Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.43044924_43051621delCA2580093785BRCA1c.5275-502_*756del
c.5278-502_*756del
c.5152-502_*756del
c.5272-502_*756del
c.5200-502_*756del
c.1966-502_*756del
c.1828-502_*756del
c.4390-502_*756del
c.5155-502_*756del
c.5137-502_*756del
c.5341-502_*756del
c.1852-502_*756del
c.1966-502_*862del
n.5414-502_6484del
n.5455-502_6525del
 ClinVar
17g.43045658_43051137delCA915940399BRCA1c.5275-20_*20del
c.5278-20_*20del
c.5152-20_*20del
c.5272-20_*20del
c.5200-20_*20del
c.1966-20_*20del
c.1828-20_*20del
c.4390-20_*20del
c.5155-20_*20del
c.5344-20_*20del
c.5137-20_*20del
c.1840-20_*20del
c.5341-20_*20del
c.1665-20_1999del
c.1852-20_*20del
c.1966-20_*126del
c.208-20_*20del
c.751-20_*20del
c.-98-947_*20del
n.5414-20_5748del
n.5455-20_5789del
17g.43045678_43047703delCA2581463416BRCA1c.5404_5589del
c.5407_5592del
c.5281_5466del
c.5401_5586del
c.5329_5514del
c.2095_2280del
c.1957_2142del
c.4519_4704del
c.5284_5469del
c.5473_5658del
c.5266_5451del
c.1969_2154del
n.1290_1475del
n.771_956del
c.5470_5655del
c.1794_1979del
c.1981_2166del
c.*5190_*5375del
c.2021_*106del
c.337_522del
c.880_1065del
c.106_291del
n.5543_5728del
n.5584_5769del
17g.43045678_43051117delCA2581463401BRCA1c.5275_5589del
c.5278_5592del
c.5152_5466del
c.5272_5586del
c.5200_5514del
c.1966_2280del
c.1828_2142del
c.4390_4704del
c.5155_5469del
c.5344_5658del
c.5137_5451del
c.1840_2154del
c.5341_5655del
c.1665_1979del
c.1852_2166del
c.*5061_*5375del
c.1966_*106del
c.208_522del
c.751_1065del
c.-98-927_291del
n.5414_5728del
n.5455_5769del
17g.43046632_43048750delCA2580093930BRCA1c.5403+398_5465-803del
c.5406+398_5468-803del
c.5280+398_5342-803del
c.5400+398_5462-803del
c.5328+398_5390-803del
c.2094+398_2156-803del
c.1956+398_2018-803del
c.4518+398_4580-803del
c.5283+398_5345-803del
c.5472+398_5534-803del
c.5265+398_5327-803del
c.1968+398_2030-803del
n.1289+398_1351-803del
c.5469+398_5531-803del
c.1793+398_1855-803del
c.1980+398_2042-803del
c.*5189+398_*5251-803del
c.2021-1020_2082-803del
c.336+398_398-803del
c.879+398_941-803del
c.105+398_167-803del
n.5542+398_5604-803del
n.5583+398_5645-803del
 ClinVar
17g.43047300_43054953dupCA16043343BRCA1c.5274+2100_5464+344dup
c.5277+2100_5467+344dup
c.5151+2100_5341+344dup
c.5271+2100_5461+344dup
c.5199+2100_5389+344dup
c.1965+2100_2155+344dup
c.1827+2100_2017+344dup
c.4389+2100_4579+344dup
c.5154+2100_5344+344dup
c.5343+2100_5533+344dup
c.5136+2100_5326+344dup
c.1839+2100_2029+344dup
c.5340+2100_5530+344dup
c.1664+2100_1854+344dup
c.1851+2100_2041+344dup
c.*5060+2100_*5250+344dup
c.1965+2100_2081+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.43047629_43047683dupCA2580093933BRCA1c.5427_5464+17dup
c.5430_5467+17dup
c.5304_5341+17dup
c.5424_5461+17dup
c.5352_5389+17dup
c.2118_2155+17dup
c.1980_2017+17dup
c.4542_4579+17dup
c.5307_5344+17dup
c.5496_5533+17dup
c.5289_5326+17dup
c.1992_2029+17dup
n.1313_1350+17dup
n.794_831+17dup
c.5493_5530+17dup
c.1817_1854+17dup
c.2004_2041+17dup
c.*5213_*5250+17dup
c.2044_2081+17dup
c.360_397+17dup
c.903_940+17dup
c.129_166+17dup
n.5566_5603+17dup
n.5607_5644+17dup
 ClinVar
17g.43047631_43047646delCA2499224347BRCA1c.5464+1_5464+16del
c.5467+1_5467+16del
c.5341+1_5341+16del
c.5461+1_5461+16del
c.5389+1_5389+16del
c.2155+1_2155+16del
c.2017+1_2017+16del
c.4579+1_4579+16del
c.5344+1_5344+16del
c.5533+1_5533+16del
c.5326+1_5326+16del
c.2029+1_2029+16del
n.1350+1_1350+16del
n.831+1_831+16del
c.5530+1_5530+16del
c.1854+1_1854+16del
c.2041+1_2041+16del
c.*5250+1_*5250+16del
c.2081+1_2081+16del
c.397+1_397+16del
c.940+1_940+16del
c.166+1_166+16del
n.5603+1_5603+16del
n.5644+1_5644+16del
 ClinVar dbSNP
17g.43047641_43047778delCA2499224348BRCA1c.5404-73_5464+4del
c.5407-73_5467+4del
c.5281-73_5341+4del
c.5401-73_5461+4del
c.5329-73_5389+4del
c.2095-73_2155+4del
c.1957-73_2017+4del
c.4519-73_4579+4del
c.5284-73_5344+4del
c.5473-73_5533+4del
c.5266-73_5326+4del
c.1969-73_2029+4del
n.1290-73_1350+4del
n.698_831+4del
c.5470-73_5530+4del
c.1794-73_1854+4del
c.1981-73_2041+4del
c.*5190-73_*5250+4del
c.2021-73_2081+4del
c.337-73_397+4del
c.880-73_940+4del
c.106-73_166+4del
n.5543-73_5603+4del
n.5584-73_5644+4del
 ClinVar dbSNP
17g.43047641A=CA2260761967BRCA1c.5464+2T= (n.5464+2T=)
c.5467+2T= (n.5467+2T=)
c.5341+2T= (n.5341+2T=)
c.5461+2T= (n.5461+2T=)
c.5389+2T= (n.5389+2T=)
c.2155+2T= (n.2155+2T=)
c.2017+2T= (n.2017+2T=)
c.4579+2T= (n.4579+2T=)
c.5344+2T= (n.5344+2T=)
c.5533+2T= (n.5533+2T=)
c.5326+2T= (n.5326+2T=)
c.2029+2T= (n.2029+2T=)
n.1350+2T=
n.831+2T=
c.5530+2T= (n.5530+2T=)
c.1854+2T=
c.2041+2T= (n.2041+2T=)
c.*5250+2T= (n.*5250+2T=)
c.2081+2T= (n.2081+2T=)
c.397+2T= (n.397+2T=)
c.940+2T= (n.940+2T=)
c.166+2T= (n.166+2T=)
n.5603+2T=
n.5644+2T=
17g.43047641A>CCA003612BRCA1c.5464+2T>G (n.5464+2T>G)
c.5467+2T>G (n.5467+2T>G)
c.5341+2T>G (n.5341+2T>G)
c.5461+2T>G (n.5461+2T>G)
c.5389+2T>G (n.5389+2T>G)
c.2155+2T>G (n.2155+2T>G)
c.2017+2T>G (n.2017+2T>G)
c.4579+2T>G (n.4579+2T>G)
c.5344+2T>G (n.5344+2T>G)
c.5533+2T>G (n.5533+2T>G)
c.5326+2T>G (n.5326+2T>G)
c.2029+2T>G (n.2029+2T>G)
n.1350+2T>G
n.831+2T>G
c.5530+2T>G (n.5530+2T>G)
c.1854+2T>G
c.2041+2T>G (n.2041+2T>G)
c.*5250+2T>G (n.*5250+2T>G)
c.2081+2T>G (n.2081+2T>G)
c.397+2T>G (n.397+2T>G)
c.940+2T>G (n.940+2T>G)
c.166+2T>G (n.166+2T>G)
n.5603+2T>G
n.5644+2T>G
 ClinVar dbSNP
17g.43047641A>GCA003611BRCA1c.5464+2T>C (n.5464+2T>C)
c.5467+2T>C (n.5467+2T>C)
c.5341+2T>C (n.5341+2T>C)
c.5461+2T>C (n.5461+2T>C)
c.5389+2T>C (n.5389+2T>C)
c.2155+2T>C (n.2155+2T>C)
c.2017+2T>C (n.2017+2T>C)
c.4579+2T>C (n.4579+2T>C)
c.5344+2T>C (n.5344+2T>C)
c.5533+2T>C (n.5533+2T>C)
c.5326+2T>C (n.5326+2T>C)
c.2029+2T>C (n.2029+2T>C)
n.1350+2T>C
n.831+2T>C
c.5530+2T>C (n.5530+2T>C)
c.1854+2T>C
c.2041+2T>C (n.2041+2T>C)
c.*5250+2T>C (n.*5250+2T>C)
c.2081+2T>C (n.2081+2T>C)
c.397+2T>C (n.397+2T>C)
c.940+2T>C (n.940+2T>C)
c.166+2T>C (n.166+2T>C)
n.5603+2T>C
n.5644+2T>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.43047641A>TCA10590413BRCA1c.5464+2T>A (n.5464+2T>A)
c.5467+2T>A (n.5467+2T>A)
c.5341+2T>A (n.5341+2T>A)
c.5461+2T>A (n.5461+2T>A)
c.5389+2T>A (n.5389+2T>A)
c.2155+2T>A (n.2155+2T>A)
c.2017+2T>A (n.2017+2T>A)
c.4579+2T>A (n.4579+2T>A)
c.5344+2T>A (n.5344+2T>A)
c.5533+2T>A (n.5533+2T>A)
c.5326+2T>A (n.5326+2T>A)
c.2029+2T>A (n.2029+2T>A)
n.1350+2T>A
n.831+2T>A
c.5530+2T>A (n.5530+2T>A)
c.1854+2T>A
c.2041+2T>A (n.2041+2T>A)
c.*5250+2T>A (n.*5250+2T>A)
c.2081+2T>A (n.2081+2T>A)
c.397+2T>A (n.397+2T>A)
c.940+2T>A (n.940+2T>A)
c.166+2T>A (n.166+2T>A)
n.5603+2T>A
n.5644+2T>A
 ClinVar dbSNP
17g.43047641_43047642delinsACCA2260761968BRCA1c.5464+1_5464+2delinsGT (n.5464+1_5464+2delinsGT)
c.5467+1_5467+2delinsGT (n.5467+1_5467+2delinsGT)
c.5341+1_5341+2delinsGT (n.5341+1_5341+2delinsGT)
c.5461+1_5461+2delinsGT (n.5461+1_5461+2delinsGT)
c.5389+1_5389+2delinsGT (n.5389+1_5389+2delinsGT)
c.2155+1_2155+2delinsGT (n.2155+1_2155+2delinsGT)
c.2017+1_2017+2delinsGT (n.2017+1_2017+2delinsGT)
c.4579+1_4579+2delinsGT (n.4579+1_4579+2delinsGT)
c.5344+1_5344+2delinsGT (n.5344+1_5344+2delinsGT)
c.5533+1_5533+2delinsGT (n.5533+1_5533+2delinsGT)
c.5326+1_5326+2delinsGT (n.5326+1_5326+2delinsGT)
c.2029+1_2029+2delinsGT (n.2029+1_2029+2delinsGT)
n.1350+1_1350+2delinsGT
n.831+1_831+2delinsGT
c.5530+1_5530+2delinsGT (n.5530+1_5530+2delinsGT)
c.1854+1_1854+2delinsGT
c.2041+1_2041+2delinsGT (n.2041+1_2041+2delinsGT)
c.*5250+1_*5250+2delinsGT (n.*5250+1_*5250+2delinsGT)
c.2081+1_2081+2delinsGT (n.2081+1_2081+2delinsGT)
c.397+1_397+2delinsGT (n.397+1_397+2delinsGT)
c.940+1_940+2delinsGT (n.940+1_940+2delinsGT)
c.166+1_166+2delinsGT (n.166+1_166+2delinsGT)
n.5603+1_5603+2delinsGT
n.5644+1_5644+2delinsGT
17g.43047642C>ACA10590414BRCA1c.5464+1G>T (n.5464+1G>T)
c.5467+1G>T (n.5467+1G>T)
c.5341+1G>T (n.5341+1G>T)
c.5461+1G>T (n.5461+1G>T)
c.5389+1G>T (n.5389+1G>T)
c.2155+1G>T (n.2155+1G>T)
c.2017+1G>T (n.2017+1G>T)
c.4579+1G>T (n.4579+1G>T)
c.5344+1G>T (n.5344+1G>T)
c.5533+1G>T (n.5533+1G>T)
c.5326+1G>T (n.5326+1G>T)
c.2029+1G>T (n.2029+1G>T)
n.1350+1G>T
n.831+1G>T
c.5530+1G>T (n.5530+1G>T)
c.1854+1G>T
c.2041+1G>T (n.2041+1G>T)
c.*5250+1G>T (n.*5250+1G>T)
c.2081+1G>T (n.2081+1G>T)
c.397+1G>T (n.397+1G>T)
c.940+1G>T (n.940+1G>T)
c.166+1G>T (n.166+1G>T)
n.5603+1G>T
n.5644+1G>T
 ClinVar dbSNP
17g.43047642C=CA2260761969BRCA1c.5464+1G= (n.5464+1G=)
c.5467+1G= (n.5467+1G=)
c.5341+1G= (n.5341+1G=)
c.5461+1G= (n.5461+1G=)
c.5389+1G= (n.5389+1G=)
c.2155+1G= (n.2155+1G=)
c.2017+1G= (n.2017+1G=)
c.4579+1G= (n.4579+1G=)
c.5344+1G= (n.5344+1G=)
c.5533+1G= (n.5533+1G=)
c.5326+1G= (n.5326+1G=)
c.2029+1G= (n.2029+1G=)
n.1350+1G=
n.831+1G=
c.5530+1G= (n.5530+1G=)
c.1854+1G=
c.2041+1G= (n.2041+1G=)
c.*5250+1G= (n.*5250+1G=)
c.2081+1G= (n.2081+1G=)
c.397+1G= (n.397+1G=)
c.940+1G= (n.940+1G=)
c.166+1G= (n.166+1G=)
n.5603+1G=
n.5644+1G=
17g.43047642C>GCA10590415BRCA1c.5464+1G>C (n.5464+1G>C)
c.5467+1G>C (n.5467+1G>C)
c.5341+1G>C (n.5341+1G>C)
c.5461+1G>C (n.5461+1G>C)
c.5389+1G>C (n.5389+1G>C)
c.2155+1G>C (n.2155+1G>C)
c.2017+1G>C (n.2017+1G>C)
c.4579+1G>C (n.4579+1G>C)
c.5344+1G>C (n.5344+1G>C)
c.5533+1G>C (n.5533+1G>C)
c.5326+1G>C (n.5326+1G>C)
c.2029+1G>C (n.2029+1G>C)
n.1350+1G>C
n.831+1G>C
c.5530+1G>C (n.5530+1G>C)
c.1854+1G>C
c.2041+1G>C (n.2041+1G>C)
c.*5250+1G>C (n.*5250+1G>C)
c.2081+1G>C (n.2081+1G>C)
c.397+1G>C (n.397+1G>C)
c.940+1G>C (n.940+1G>C)
c.166+1G>C (n.166+1G>C)
n.5603+1G>C
n.5644+1G>C
 ClinVar dbSNP
17g.43047642C>TCA003610BRCA1c.5464+1G>A (n.5464+1G>A)
c.5467+1G>A (n.5467+1G>A)
c.5341+1G>A (n.5341+1G>A)
c.5461+1G>A (n.5461+1G>A)
c.5389+1G>A (n.5389+1G>A)
c.2155+1G>A (n.2155+1G>A)
c.2017+1G>A (n.2017+1G>A)
c.4579+1G>A (n.4579+1G>A)
c.5344+1G>A (n.5344+1G>A)
c.5533+1G>A (n.5533+1G>A)
c.5326+1G>A (n.5326+1G>A)
c.2029+1G>A (n.2029+1G>A)
n.1350+1G>A
n.831+1G>A
c.5530+1G>A (n.5530+1G>A)
c.1854+1G>A
c.2041+1G>A (n.2041+1G>A)
c.*5250+1G>A (n.*5250+1G>A)
c.2081+1G>A (n.2081+1G>A)
c.397+1G>A (n.397+1G>A)
c.940+1G>A (n.940+1G>A)
c.166+1G>A (n.166+1G>A)
n.5603+1G>A
n.5644+1G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.43047643delCA10602570BRCA1c.5464+1del
c.5467+1del
c.5341+1del
c.5461+1del
c.5389+1del
c.2155+1del
c.2017+1del
c.4579+1del
c.5344+1del
c.5533+1del
c.5326+1del
c.2029+1del
n.1350+1del
n.831+1del
c.5530+1del
c.1854+1del
c.2041+1del
c.*5250+1del
c.2081+1del
c.397+1del
c.940+1del
c.166+1del
n.5603+1del
n.5644+1del
 ClinVar dbSNP
17g.43047643C>ACA10590416BRCA1c.5464G>T (p.Ala1822Ser)
c.5467G>T (p.Ala1823Ser)
c.5341G>T (p.Ala1781Ser)
c.5461G>T (p.Ala1821Ser)
c.5389G>T (p.Ala1797Ser)
c.2155G>T (p.Ala719Ser)
c.2017G>T (p.Ala673Ser)
c.4579G>T (p.Ala1527Ser)
c.5344G>T (p.Ala1782Ser)
c.5533G>T (p.Ala1845Ser)
c.5326G>T (p.Ala1776Ser)
c.2029G>T (p.Ala677Ser)
n.1350G>T
n.831G>T
c.5530G>T (p.Ala1844Ser)
c.1854G>T
c.2041G>T (p.Ala681Ser)
c.*5250G>T (n.*5250G>T)
c.2081G>T (p.Cys694Phe)
c.397G>T (p.Ala133Ser)
c.940G>T (p.Ala314Ser)
c.166G>T (p.Ala56Ser)
n.5603G>T
n.5644G>T
 ClinVar dbSNP COSMIC COSMIC
17g.43047643C=CA2260761970BRCA1c.5464G= (p.Ala1822=)
c.5467G= (p.Ala1823=)
c.5341G= (p.Ala1781=)
c.5461G= (p.Ala1821=)
c.5389G= (p.Ala1797=)
c.2155G= (p.Ala719=)
c.2017G= (p.Ala673=)
c.4579G= (p.Ala1527=)
c.5344G= (p.Ala1782=)
c.5533G= (p.Ala1845=)
c.5326G= (p.Ala1776=)
c.2029G= (p.Ala677=)
n.1350G=
n.831G=
c.5530G= (p.Ala1844=)
c.1854G=
c.2041G= (p.Ala681=)
c.*5250G= (n.*5250G=)
c.2081G= (p.Cys694=)
c.397G= (p.Ala133=)
c.940G= (p.Ala314=)
c.166G= (p.Ala56=)
n.5603G=
n.5644G=
17g.43047643C>GCA10590418BRCA1c.5464G>C (p.Ala1822Pro)
c.5467G>C (p.Ala1823Pro)
c.5341G>C (p.Ala1781Pro)
c.5461G>C (p.Ala1821Pro)
c.5389G>C (p.Ala1797Pro)
c.2155G>C (p.Ala719Pro)
c.2017G>C (p.Ala673Pro)
c.4579G>C (p.Ala1527Pro)
c.5344G>C (p.Ala1782Pro)
c.5533G>C (p.Ala1845Pro)
c.5326G>C (p.Ala1776Pro)
c.2029G>C (p.Ala677Pro)
n.1350G>C
n.831G>C
c.5530G>C (p.Ala1844Pro)
c.1854G>C
c.2041G>C (p.Ala681Pro)
c.*5250G>C (n.*5250G>C)
c.2081G>C (p.Cys694Ser)
c.397G>C (p.Ala133Pro)
c.940G>C (p.Ala314Pro)
c.166G>C (p.Ala56Pro)
n.5603G>C
n.5644G>C
 ClinVar dbSNP
17g.43047643C>TCA003618BRCA1c.5464G>A (p.Ala1822Thr)
c.5467G>A (p.Ala1823Thr)
c.5341G>A (p.Ala1781Thr)
c.5461G>A (p.Ala1821Thr)
c.5389G>A (p.Ala1797Thr)
c.2155G>A (p.Ala719Thr)
c.2017G>A (p.Ala673Thr)
c.4579G>A (p.Ala1527Thr)
c.5344G>A (p.Ala1782Thr)
c.5533G>A (p.Ala1845Thr)
c.5326G>A (p.Ala1776Thr)
c.2029G>A (p.Ala677Thr)
n.1350G>A
n.831G>A
c.5530G>A (p.Ala1844Thr)
c.1854G>A
c.2041G>A (p.Ala681Thr)
c.*5250G>A (n.*5250G>A)
c.2081G>A (p.Cys694Tyr)
c.397G>A (p.Ala133Thr)
c.940G>A (p.Ala314Thr)
c.166G>A (p.Ala56Thr)
n.5603G>A
n.5644G>A
 ClinVar dbSNP
17g.43047644A=CA2260761971BRCA1c.5463T= (p.His1821=)
c.5466T= (p.His1822=)
c.5340T= (p.His1780=)
c.5460T= (p.His1820=)
c.5388T= (p.His1796=)
c.2154T= (p.His718=)
c.2016T= (p.His672=)
c.4578T= (p.His1526=)
c.5343T= (p.His1781=)
c.5532T= (p.His1844=)
c.5325T= (p.His1775=)
c.2028T= (p.His676=)
n.1349T=
n.830T=
c.5529T= (p.His1843=)
c.1853T=
c.2040T= (p.His680=)
c.*5249T= (n.*5249T=)
c.2080T= (p.Cys694=)
c.396T= (p.His132=)
c.939T= (p.His313=)
c.165T= (p.His55=)
n.5602T=
n.5643T=
17g.43047644A>CCA10590420BRCA1c.5463T>G (p.His1821Gln)
c.5466T>G (p.His1822Gln)
c.5340T>G (p.His1780Gln)
c.5460T>G (p.His1820Gln)
c.5388T>G (p.His1796Gln)
c.2154T>G (p.His718Gln)
c.2016T>G (p.His672Gln)
c.4578T>G (p.His1526Gln)
c.5343T>G (p.His1781Gln)
c.5532T>G (p.His1844Gln)
c.5325T>G (p.His1775Gln)
c.2028T>G (p.His676Gln)
n.1349T>G
n.830T>G
c.5529T>G (p.His1843Gln)
c.1853T>G
c.2040T>G (p.His680Gln)
c.*5249T>G (n.*5249T>G)
c.2080T>G (p.Cys694Gly)
c.396T>G (p.His132Gln)
c.939T>G (p.His313Gln)
c.165T>G (p.His55Gln)
n.5602T>G
n.5643T>G
 ClinVar dbSNP
17g.43047644A>GCA10590422BRCA1c.5463T>C (p.His1821=)
c.5466T>C (p.His1822=)
c.5340T>C (p.His1780=)
c.5460T>C (p.His1820=)
c.5388T>C (p.His1796=)
c.2154T>C (p.His718=)
c.2016T>C (p.His672=)
c.4578T>C (p.His1526=)
c.5343T>C (p.His1781=)
c.5532T>C (p.His1844=)
c.5325T>C (p.His1775=)
c.2028T>C (p.His676=)
n.1349T>C
n.830T>C
c.5529T>C (p.His1843=)
c.1853T>C
c.2040T>C (p.His680=)
c.*5249T>C (n.*5249T>C)
c.2080T>C (p.Cys694Arg)
c.396T>C (p.His132=)
c.939T>C (p.His313=)
c.165T>C (p.His55=)
n.5602T>C
n.5643T>C
 ClinVar dbSNP gnomAD v4
17g.43047644A>TCA10590423BRCA1c.5463T>A (p.His1821Gln)
c.5466T>A (p.His1822Gln)
c.5340T>A (p.His1780Gln)
c.5460T>A (p.His1820Gln)
c.5388T>A (p.His1796Gln)
c.2154T>A (p.His718Gln)
c.2016T>A (p.His672Gln)
c.4578T>A (p.His1526Gln)
c.5343T>A (p.His1781Gln)
c.5532T>A (p.His1844Gln)
c.5325T>A (p.His1775Gln)
c.2028T>A (p.His676Gln)
n.1349T>A
n.830T>A
c.5529T>A (p.His1843Gln)
c.1853T>A
c.2040T>A (p.His680Gln)
c.*5249T>A (n.*5249T>A)
c.2080T>A (p.Cys694Ser)
c.396T>A (p.His132Gln)
c.939T>A (p.His313Gln)
c.165T>A (p.His55Gln)
n.5602T>A
n.5643T>A
 ClinVar dbSNP
17g.43047644dupCA658824709BRCA1c.5463dup (p.Ala1822CysfsTer7)
c.5466dup (p.Ala1823CysfsTer7)
c.5340dup (p.Ala1781CysfsTer7)
c.5460dup (p.Ala1821CysfsTer7)
c.5388dup (p.Ala1797CysfsTer7)
c.2154dup (p.Ala719CysfsTer7)
c.2016dup (p.Ala673CysfsTer7)
c.4578dup (p.Ala1527CysfsTer7)
c.5343dup (p.Ala1782CysfsTer7)
c.5532dup (p.Ala1845CysfsTer7)
c.5325dup (p.Ala1776CysfsTer7)
c.2028dup (p.Ala677CysfsTer7)
n.1349dup
n.830dup
c.5529dup (p.Ala1844CysfsTer7)
c.1853dup
c.2040dup (p.Ala681CysfsTer7)
c.*5249dup (n.*5249dup)
c.2080dup (p.Cys694LeufsTer12)
c.396dup (p.Ala133CysfsTer7)
c.939dup (p.Ala314CysfsTer7)
c.165dup (p.Ala56CysfsTer7)
n.5602dup
n.5643dup
 ClinVar dbSNP
17g.43047645delCA2697559965BRCA1c.5462del (p.His1821LeufsTer12)
c.5465del (p.His1822LeufsTer12)
c.5339del (p.His1780LeufsTer12)
c.5459del (p.His1820LeufsTer12)
c.5387del (p.His1796LeufsTer12)
c.2153del (p.His718LeufsTer12)
c.2015del (p.His672LeufsTer12)
c.4577del (p.His1526LeufsTer12)
c.5342del (p.His1781LeufsTer12)
c.5531del (p.His1844LeufsTer12)
c.5324del (p.His1775LeufsTer12)
c.2027del (p.His676LeufsTer12)
n.1348del
n.829del
c.5528del (p.His1843LeufsTer12)
c.1852del
c.2039del (p.His680LeufsTer12)
c.*5248del (n.*5248del)
c.2079del (p.Cys694AlafsTer?)
c.395del (p.His132LeufsTer12)
c.938del (p.His313LeufsTer12)
c.164del (p.His55LeufsTer12)
n.5601del
n.5642del
 ClinVar
17g.43047645T>ACA10590425BRCA1c.5462A>T (p.His1821Leu)
c.5465A>T (p.His1822Leu)
c.5339A>T (p.His1780Leu)
c.5459A>T (p.His1820Leu)
c.5387A>T (p.His1796Leu)
c.2153A>T (p.His718Leu)
c.2015A>T (p.His672Leu)
c.4577A>T (p.His1526Leu)
c.5342A>T (p.His1781Leu)
c.5531A>T (p.His1844Leu)
c.5324A>T (p.His1775Leu)
c.2027A>T (p.His676Leu)
n.1348A>T
n.829A>T
c.5528A>T (p.His1843Leu)
c.1852A>T
c.2039A>T (p.His680Leu)
c.*5248A>T (n.*5248A>T)
c.2079A>T (p.Pro693=)
c.395A>T (p.His132Leu)
c.938A>T (p.His313Leu)
c.164A>T (p.His55Leu)
n.5601A>T
n.5642A>T
 ClinVar dbSNP
17g.43047645T>CCA10590426BRCA1c.5462A>G (p.His1821Arg)
c.5465A>G (p.His1822Arg)
c.5339A>G (p.His1780Arg)
c.5459A>G (p.His1820Arg)
c.5387A>G (p.His1796Arg)
c.2153A>G (p.His718Arg)
c.2015A>G (p.His672Arg)
c.4577A>G (p.His1526Arg)
c.5342A>G (p.His1781Arg)
c.5531A>G (p.His1844Arg)
c.5324A>G (p.His1775Arg)
c.2027A>G (p.His676Arg)
n.1348A>G
n.829A>G
c.5528A>G (p.His1843Arg)
c.1852A>G
c.2039A>G (p.His680Arg)
c.*5248A>G (n.*5248A>G)
c.2079A>G (p.Pro693=)
c.395A>G (p.His132Arg)
c.938A>G (p.His313Arg)
c.164A>G (p.His55Arg)
n.5601A>G
n.5642A>G
 ClinVar dbSNP gnomAD v4
17g.43047645T>GCA10590427BRCA1c.5462A>C (p.His1821Pro)
c.5465A>C (p.His1822Pro)
c.5339A>C (p.His1780Pro)
c.5459A>C (p.His1820Pro)
c.5387A>C (p.His1796Pro)
c.2153A>C (p.His718Pro)
c.2015A>C (p.His672Pro)
c.4577A>C (p.His1526Pro)
c.5342A>C (p.His1781Pro)
c.5531A>C (p.His1844Pro)
c.5324A>C (p.His1775Pro)
c.2027A>C (p.His676Pro)
n.1348A>C
n.829A>C
c.5528A>C (p.His1843Pro)
c.1852A>C
c.2039A>C (p.His680Pro)
c.*5248A>C (n.*5248A>C)
c.2079A>C (p.Pro693=)
c.395A>C (p.His132Pro)
c.938A>C (p.His313Pro)
c.164A>C (p.His55Pro)
n.5601A>C
n.5642A>C
 ClinVar dbSNP
17g.43047645T=CA2260761972BRCA1c.5462A= (p.His1821=)
c.5465A= (p.His1822=)
c.5339A= (p.His1780=)
c.5459A= (p.His1820=)
c.5387A= (p.His1796=)
c.2153A= (p.His718=)
c.2015A= (p.His672=)
c.4577A= (p.His1526=)
c.5342A= (p.His1781=)
c.5531A= (p.His1844=)
c.5324A= (p.His1775=)
c.2027A= (p.His676=)
n.1348A=
n.829A=
c.5528A= (p.His1843=)
c.1852A=
c.2039A= (p.His680=)
c.*5248A= (n.*5248A=)
c.2079A= (p.Pro693=)
c.395A= (p.His132=)
c.938A= (p.His313=)
c.164A= (p.His55=)
n.5601A=
n.5642A=
17g.43047645_43047646insACA003609BRCA1c.5461_5462insT (p.His1821LeufsTer8)
c.5464_5465insT (p.His1822LeufsTer8)
c.5338_5339insT (p.His1780LeufsTer8)
c.5458_5459insT (p.His1820LeufsTer8)
c.5386_5387insT (p.His1796LeufsTer8)
c.2152_2153insT (p.His718LeufsTer8)
c.2014_2015insT (p.His672LeufsTer8)
c.4576_4577insT (p.His1526LeufsTer8)
c.5341_5342insT (p.His1781LeufsTer8)
c.5530_5531insT (p.His1844LeufsTer8)
c.5323_5324insT (p.His1775LeufsTer8)
c.2026_2027insT (p.His676LeufsTer8)
n.1347_1348insT
n.828_829insT
c.5527_5528insT (p.His1843LeufsTer8)
c.1851_1852insT
c.2038_2039insT (p.His680LeufsTer8)
c.*5247_*5248insT (n.*5247_*5248insT)
c.2078_2079insT (p.Cys694MetfsTer12)
c.394_395insT (p.His132LeufsTer8)
c.937_938insT (p.His313LeufsTer8)
c.163_164insT (p.His55LeufsTer8)
n.5600_5601insT
n.5641_5642insT
 ClinVar dbSNP
17g.43047646G>ACA10590428BRCA1c.5461C>T (p.His1821Tyr)
c.5464C>T (p.His1822Tyr)
c.5338C>T (p.His1780Tyr)
c.5458C>T (p.His1820Tyr)
c.5386C>T (p.His1796Tyr)
c.2152C>T (p.His718Tyr)
c.2014C>T (p.His672Tyr)
c.4576C>T (p.His1526Tyr)
c.5341C>T (p.His1781Tyr)
c.5530C>T (p.His1844Tyr)
c.5323C>T (p.His1775Tyr)
c.2026C>T (p.His676Tyr)
n.1347C>T
n.828C>T
c.5527C>T (p.His1843Tyr)
c.1851C>T
c.2038C>T (p.His680Tyr)
c.*5247C>T (n.*5247C>T)
c.2078C>T (p.Pro693Leu)
c.394C>T (p.His132Tyr)
c.937C>T (p.His313Tyr)
c.163C>T (p.His55Tyr)
n.5600C>T
n.5641C>T
 ClinVar dbSNP COSMIC COSMIC
17g.43047646G>CCA10590430BRCA1c.5461C>G (p.His1821Asp)
c.5464C>G (p.His1822Asp)
c.5338C>G (p.His1780Asp)
c.5458C>G (p.His1820Asp)
c.5386C>G (p.His1796Asp)
c.2152C>G (p.His718Asp)
c.2014C>G (p.His672Asp)
c.4576C>G (p.His1526Asp)
c.5341C>G (p.His1781Asp)
c.5530C>G (p.His1844Asp)
c.5323C>G (p.His1775Asp)
c.2026C>G (p.His676Asp)
n.1347C>G
n.828C>G
c.5527C>G (p.His1843Asp)
c.1851C>G
c.2038C>G (p.His680Asp)
c.*5247C>G (n.*5247C>G)
c.2078C>G (p.Pro693Arg)
c.394C>G (p.His132Asp)
c.937C>G (p.His313Asp)
c.163C>G (p.His55Asp)
n.5600C>G
n.5641C>G
 ClinVar dbSNP
17g.43047646G=CA2260761973BRCA1c.5461C= (p.His1821=)
c.5464C= (p.His1822=)
c.5338C= (p.His1780=)
c.5458C= (p.His1820=)
c.5386C= (p.His1796=)
c.2152C= (p.His718=)
c.2014C= (p.His672=)
c.4576C= (p.His1526=)
c.5341C= (p.His1781=)
c.5530C= (p.His1844=)
c.5323C= (p.His1775=)
c.2026C= (p.His676=)
n.1347C=
n.828C=
c.5527C= (p.His1843=)
c.1851C=
c.2038C= (p.His680=)
c.*5247C= (n.*5247C=)
c.2078C= (p.Pro693=)
c.394C= (p.His132=)
c.937C= (p.His313=)
c.163C= (p.His55=)
n.5600C=
n.5641C=
17g.43047646G>TCA10590432BRCA1c.5461C>A (p.His1821Asn)
c.5464C>A (p.His1822Asn)
c.5338C>A (p.His1780Asn)
c.5458C>A (p.His1820Asn)
c.5386C>A (p.His1796Asn)
c.2152C>A (p.His718Asn)
c.2014C>A (p.His672Asn)
c.4576C>A (p.His1526Asn)
c.5341C>A (p.His1781Asn)
c.5530C>A (p.His1844Asn)
c.5323C>A (p.His1775Asn)
c.2026C>A (p.His676Asn)
n.1347C>A
n.828C>A
c.5527C>A (p.His1843Asn)
c.1851C>A
c.2038C>A (p.His680Asn)
c.*5247C>A (n.*5247C>A)
c.2078C>A (p.Pro693Gln)
c.394C>A (p.His132Asn)
c.937C>A (p.His313Asn)
c.163C>A (p.His55Asn)
n.5600C>A
n.5641C>A
 ClinVar dbSNP gnomAD v4
17g.43047647dupCA919844163BRCA1c.5461dup (p.His1821ProfsTer8)
c.5464dup (p.His1822ProfsTer8)
c.5338dup (p.His1780ProfsTer8)
c.5458dup (p.His1820ProfsTer8)
c.5386dup (p.His1796ProfsTer8)
c.2152dup (p.His718ProfsTer8)
c.2014dup (p.His672ProfsTer8)
c.4576dup (p.His1526ProfsTer8)
c.5341dup (p.His1781ProfsTer8)
c.5530dup (p.His1844ProfsTer8)
c.5323dup (p.His1775ProfsTer8)
c.2026dup (p.His676ProfsTer8)
n.1347dup
n.828dup
c.5527dup (p.His1843ProfsTer8)
c.1851dup
c.2038dup (p.His680ProfsTer8)
c.*5247dup (n.*5247dup)
c.2078dup (p.Cys694MetfsTer12)
c.394dup (p.His132ProfsTer8)
c.937dup (p.His313ProfsTer8)
c.163dup (p.His55ProfsTer8)
n.5600dup
n.5641dup
 dbSNP
17g.43047647delCA2733676563BRCA1c.5461del (p.His1821MetfsTer12)
c.5464del (p.His1822MetfsTer12)
c.5338del (p.His1780MetfsTer12)
c.5458del (p.His1820MetfsTer12)
c.5386del (p.His1796MetfsTer12)
c.2152del (p.His718MetfsTer12)
c.2014del (p.His672MetfsTer12)
c.4576del (p.His1526MetfsTer12)
c.5341del (p.His1781MetfsTer12)
c.5530del (p.His1844MetfsTer12)
c.5323del (p.His1775MetfsTer12)
c.2026del (p.His676MetfsTer12)
n.1347del
n.828del
c.5527del (p.His1843MetfsTer12)
c.1851del
c.2038del (p.His680MetfsTer12)
c.*5247del (n.*5247del)
c.2078del (p.Pro693HisfsTer?)
c.394del (p.His132MetfsTer12)
c.937del (p.His313MetfsTer12)
c.163del (p.His55MetfsTer12)
n.5600del
n.5641del
 dbSNP
17g.43047646_43047647insACA16043341BRCA1c.5460_5461insT (p.His1821SerfsTer8)
c.5463_5464insT (p.His1822SerfsTer8)
c.5337_5338insT (p.His1780SerfsTer8)
c.5457_5458insT (p.His1820SerfsTer8)
c.5385_5386insT (p.His1796SerfsTer8)
c.2151_2152insT (p.His718SerfsTer8)
c.2013_2014insT (p.His672SerfsTer8)
c.4575_4576insT (p.His1526SerfsTer8)
c.5340_5341insT (p.His1781SerfsTer8)
c.5529_5530insT (p.His1844SerfsTer8)
c.5322_5323insT (p.His1775SerfsTer8)
c.2025_2026insT (p.His676SerfsTer8)
n.1346_1347insT
n.827_828insT
c.5526_5527insT (p.His1843SerfsTer8)
c.1850_1851insT
c.2037_2038insT (p.His680SerfsTer8)
c.*5246_*5247insT (n.*5246_*5247insT)
c.2077_2078insT (p.Pro693LeufsTer13)
c.393_394insT (p.His132SerfsTer8)
c.936_937insT (p.His313SerfsTer8)
c.162_163insT (p.His55SerfsTer8)
n.5599_5600insT
n.5640_5641insT
 ClinVar dbSNP
17g.43047647G>ACA10590434BRCA1c.5460C>T (p.Phe1820=)
c.5463C>T (p.Phe1821=)
c.5337C>T (p.Phe1779=)
c.5457C>T (p.Phe1819=)
c.5385C>T (p.Phe1795=)
c.2151C>T (p.Phe717=)
c.2013C>T (p.Phe671=)
c.4575C>T (p.Phe1525=)
c.5340C>T (p.Phe1780=)
c.5529C>T (p.Phe1843=)
c.5322C>T (p.Phe1774=)
c.2025C>T (p.Phe675=)
n.1346C>T
n.827C>T
c.5526C>T (p.Phe1842=)
c.1850C>T
c.2037C>T (p.Phe679=)
c.*5246C>T (n.*5246C>T)
c.2077C>T (p.Pro693Ser)
c.393C>T (p.Phe131=)
c.936C>T (p.Phe312=)
c.162C>T (p.Phe54=)
n.5599C>T
n.5640C>T
 ClinVar dbSNP
17g.43047647G>CCA10590435BRCA1c.5460C>G (p.Phe1820Leu)
c.5463C>G (p.Phe1821Leu)
c.5337C>G (p.Phe1779Leu)
c.5457C>G (p.Phe1819Leu)
c.5385C>G (p.Phe1795Leu)
c.2151C>G (p.Phe717Leu)
c.2013C>G (p.Phe671Leu)
c.4575C>G (p.Phe1525Leu)
c.5340C>G (p.Phe1780Leu)
c.5529C>G (p.Phe1843Leu)
c.5322C>G (p.Phe1774Leu)
c.2025C>G (p.Phe675Leu)
n.1346C>G
n.827C>G
c.5526C>G (p.Phe1842Leu)
c.1850C>G
c.2037C>G (p.Phe679Leu)
c.*5246C>G (n.*5246C>G)
c.2077C>G (p.Pro693Ala)
c.393C>G (p.Phe131Leu)
c.936C>G (p.Phe312Leu)
c.162C>G (p.Phe54Leu)
n.5599C>G
n.5640C>G
 ClinVar dbSNP
17g.43047647G=CA2260761974BRCA1c.5460C= (p.Phe1820=)
c.5463C= (p.Phe1821=)
c.5337C= (p.Phe1779=)
c.5457C= (p.Phe1819=)
c.5385C= (p.Phe1795=)
c.2151C= (p.Phe717=)
c.2013C= (p.Phe671=)
c.4575C= (p.Phe1525=)
c.5340C= (p.Phe1780=)
c.5529C= (p.Phe1843=)
c.5322C= (p.Phe1774=)
c.2025C= (p.Phe675=)
n.1346C=
n.827C=
c.5526C= (p.Phe1842=)
c.1850C=
c.2037C= (p.Phe679=)
c.*5246C= (n.*5246C=)
c.2077C= (p.Pro693=)
c.393C= (p.Phe131=)
c.936C= (p.Phe312=)
c.162C= (p.Phe54=)
n.5599C=
n.5640C=
17g.43047647G>TCA10590437BRCA1c.5460C>A (p.Phe1820Leu)
c.5463C>A (p.Phe1821Leu)
c.5337C>A (p.Phe1779Leu)
c.5457C>A (p.Phe1819Leu)
c.5385C>A (p.Phe1795Leu)
c.2151C>A (p.Phe717Leu)
c.2013C>A (p.Phe671Leu)
c.4575C>A (p.Phe1525Leu)
c.5340C>A (p.Phe1780Leu)
c.5529C>A (p.Phe1843Leu)
c.5322C>A (p.Phe1774Leu)
c.2025C>A (p.Phe675Leu)
n.1346C>A
n.827C>A
c.5526C>A (p.Phe1842Leu)
c.1850C>A
c.2037C>A (p.Phe679Leu)
c.*5246C>A (n.*5246C>A)
c.2077C>A (p.Pro693Thr)
c.393C>A (p.Phe131Leu)
c.936C>A (p.Phe312Leu)
c.162C>A (p.Phe54Leu)
n.5599C>A
n.5640C>A
 ClinVar dbSNP
17g.43047648A=CA2260761975BRCA1c.5459T= (p.Phe1820=)
c.5462T= (p.Phe1821=)
c.5336T= (p.Phe1779=)
c.5456T= (p.Phe1819=)
c.5384T= (p.Phe1795=)
c.2150T= (p.Phe717=)
c.2012T= (p.Phe671=)
c.4574T= (p.Phe1525=)
c.5339T= (p.Phe1780=)
c.5528T= (p.Phe1843=)
c.5321T= (p.Phe1774=)
c.2024T= (p.Phe675=)
n.1345T=
n.826T=
c.5525T= (p.Phe1842=)
c.1849T=
c.2036T= (p.Phe679=)
c.*5245T= (n.*5245T=)
c.2076T= (p.Leu692=)
c.392T= (p.Phe131=)
c.935T= (p.Phe312=)
c.161T= (p.Phe54=)
n.5598T=
n.5639T=
17g.43047648A>CCA10590439BRCA1c.5459T>G (p.Phe1820Cys)
c.5462T>G (p.Phe1821Cys)
c.5336T>G (p.Phe1779Cys)
c.5456T>G (p.Phe1819Cys)
c.5384T>G (p.Phe1795Cys)
c.2150T>G (p.Phe717Cys)
c.2012T>G (p.Phe671Cys)
c.4574T>G (p.Phe1525Cys)
c.5339T>G (p.Phe1780Cys)
c.5528T>G (p.Phe1843Cys)
c.5321T>G (p.Phe1774Cys)
c.2024T>G (p.Phe675Cys)
n.1345T>G
n.826T>G
c.5525T>G (p.Phe1842Cys)
c.1849T>G
c.2036T>G (p.Phe679Cys)
c.*5245T>G (n.*5245T>G)
c.2076T>G (p.Leu692=)
c.392T>G (p.Phe131Cys)
c.935T>G (p.Phe312Cys)
c.161T>G (p.Phe54Cys)
n.5598T>G
n.5639T>G
 ClinVar dbSNP
17g.43047648A>GCA10590440BRCA1c.5459T>C (p.Phe1820Ser)
c.5462T>C (p.Phe1821Ser)
c.5336T>C (p.Phe1779Ser)
c.5456T>C (p.Phe1819Ser)
c.5384T>C (p.Phe1795Ser)
c.2150T>C (p.Phe717Ser)
c.2012T>C (p.Phe671Ser)
c.4574T>C (p.Phe1525Ser)
c.5339T>C (p.Phe1780Ser)
c.5528T>C (p.Phe1843Ser)
c.5321T>C (p.Phe1774Ser)
c.2024T>C (p.Phe675Ser)
n.1345T>C
n.826T>C
c.5525T>C (p.Phe1842Ser)
c.1849T>C
c.2036T>C (p.Phe679Ser)
c.*5245T>C (n.*5245T>C)
c.2076T>C (p.Leu692=)
c.392T>C (p.Phe131Ser)
c.935T>C (p.Phe312Ser)
c.161T>C (p.Phe54Ser)
n.5598T>C
n.5639T>C
 ClinVar dbSNP
17g.43047648A>TCA10590441BRCA1c.5459T>A (p.Phe1820Tyr)
c.5462T>A (p.Phe1821Tyr)
c.5336T>A (p.Phe1779Tyr)
c.5456T>A (p.Phe1819Tyr)
c.5384T>A (p.Phe1795Tyr)
c.2150T>A (p.Phe717Tyr)
c.2012T>A (p.Phe671Tyr)
c.4574T>A (p.Phe1525Tyr)
c.5339T>A (p.Phe1780Tyr)
c.5528T>A (p.Phe1843Tyr)
c.5321T>A (p.Phe1774Tyr)
c.2024T>A (p.Phe675Tyr)
n.1345T>A
n.826T>A
c.5525T>A (p.Phe1842Tyr)
c.1849T>A
c.2036T>A (p.Phe679Tyr)
c.*5245T>A (n.*5245T>A)
c.2076T>A (p.Leu692=)
c.392T>A (p.Phe131Tyr)
c.935T>A (p.Phe312Tyr)
c.161T>A (p.Phe54Tyr)
n.5598T>A
n.5639T>A
 ClinVar dbSNP
17g.43047649A=CA2260761976BRCA1c.5458T= (p.Phe1820=)
c.5461T= (p.Phe1821=)
c.5335T= (p.Phe1779=)
c.5455T= (p.Phe1819=)
c.5383T= (p.Phe1795=)
c.2149T= (p.Phe717=)
c.2011T= (p.Phe671=)
c.4573T= (p.Phe1525=)
c.5338T= (p.Phe1780=)
c.5527T= (p.Phe1843=)
c.5320T= (p.Phe1774=)
c.2023T= (p.Phe675=)
n.1344T=
n.825T=
c.5524T= (p.Phe1842=)
c.1848T=
c.2035T= (p.Phe679=)
c.*5244T= (n.*5244T=)
c.2075T= (p.Leu692=)
c.391T= (p.Phe131=)
c.934T= (p.Phe312=)
c.160T= (p.Phe54=)
n.5597T=
n.5638T=

Number of alleles fetched