Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.43051066_43057138delCA2581463411BRCA1c.5191_5329del
c.5194_5332del
c.5068_5206del
c.5188_5326del
c.5116_5254del
c.1882_2020del
c.1744_1882del
c.4306_4444del
c.5071_5209del
c.5260_5398del
c.5053_5191del
c.1756_1894del
c.5257_5395del
c.1581_1719del
c.1768_1906del
c.*4977_*5115del
c.124_262del
c.667_805del
c.-98-6945_-98-873del (n.-98-6945_-98-873del)
n.5330_5468del
n.5371_5509del
17g.43052946_43059974delCA1139665560BRCA1c.5191-2834_5275-1824del
c.5194-2834_5278-1824del
c.5068-2834_5152-1824del
c.5188-2834_5272-1824del
c.5116-2834_5200-1824del
c.1882-2834_1966-1824del
c.1744-2834_1828-1824del
c.4306-2834_4390-1824del
c.5071-2834_5155-1824del
c.5260-2834_5344-1824del
c.5053-2834_5137-1824del
c.1756-2834_1840-1824del
c.5257-2834_5341-1824del
c.1581-2834_1665-1824del
c.1768-2834_1852-1824del
c.*4977-2834_*5061-1824del
c.124-2834_208-1824del
c.667-2834_751-1824del
c.-98-9779_-98-2751del (n.-98-9779_-98-2751del)
n.5330-2834_5414-1824del
n.5371-2834_5455-1824del
 ClinVar
17g.43053415_43057588delCA10602575BRCA1c.5191-452_5275-2297del
c.5194-452_5278-2297del
c.5068-452_5152-2297del
c.5188-452_5272-2297del
c.5116-452_5200-2297del
c.1882-452_1966-2297del
c.1744-452_1828-2297del
c.4306-452_4390-2297del
c.5071-452_5155-2297del
c.5260-452_5344-2297del
c.5053-452_5137-2297del
c.1756-452_1840-2297del
c.5257-452_5341-2297del
c.1581-452_1665-2297del
c.1768-452_1852-2297del
c.*4977-452_*5061-2297del
c.124-452_208-2297del
c.667-452_751-2297del
c.-98-7397_-98-3224del (n.-98-7397_-98-3224del)
n.5330-452_5414-2297del
n.5371-452_5455-2297del
 ClinVar
17g.43053428_43057600delCA913191184BRCA1c.5191-453_5275-2299del
c.5194-453_5278-2299del
c.5068-453_5152-2299del
c.5188-453_5272-2299del
c.5116-453_5200-2299del
c.1882-453_1966-2299del
c.1744-453_1828-2299del
c.4306-453_4390-2299del
c.5071-453_5155-2299del
c.5260-453_5344-2299del
c.5053-453_5137-2299del
c.1756-453_1840-2299del
c.5257-453_5341-2299del
c.1581-453_1665-2299del
c.1768-453_1852-2299del
c.*4977-453_*5061-2299del
c.124-453_208-2299del
c.667-453_751-2299del
c.-98-7398_-98-3226del (n.-98-7398_-98-3226del)
n.5330-453_5414-2299del
n.5371-453_5455-2299del
 ClinVar
17g.43053870_43057116delinsACA2580094093BRCA1c.5210_5275-2753delinsT
c.5213_5278-2753delinsT
c.5087_5152-2753delinsT
c.5207_5272-2753delinsT
c.5135_5200-2753delinsT
c.1901_1966-2753delinsT
c.1763_1828-2753delinsT
c.4325_4390-2753delinsT
c.5090_5155-2753delinsT
c.5279_5344-2753delinsT
c.5072_5137-2753delinsT
c.1775_1840-2753delinsT
c.5276_5341-2753delinsT
c.1600_1665-2753delinsT
c.1787_1852-2753delinsT
c.*4996_*5061-2753delinsT
c.143_208-2753delinsT
c.686_751-2753delinsT
c.-98-6926_-98-3680delinsT (n.-98-6926_-98-3680delinsT)
n.5349_5414-2753delinsT
n.5390_5455-2753delinsT
 ClinVar
17g.43053874_43057073delCA16043344BRCA1c.5253_5275-2757del
c.5256_5278-2757del
c.5130_5152-2757del
c.5250_5272-2757del
c.5178_5200-2757del
c.1944_1966-2757del
c.1806_1828-2757del
c.4368_4390-2757del
c.5133_5155-2757del
c.5322_5344-2757del
c.5115_5137-2757del
c.1818_1840-2757del
c.5319_5341-2757del
c.1643_1665-2757del
c.1830_1852-2757del
c.*5039_*5061-2757del
c.186_208-2757del
c.729_751-2757del
c.-98-6883_-98-3684del (n.-98-6883_-98-3684del)
n.5392_5414-2757del
n.5433_5455-2757del
 ClinVar
17g.43054269_43057091delCA10602577BRCA1c.5240_5274+2788del
c.5243_5277+2788del
c.5117_5151+2788del
c.5237_5271+2788del
c.5165_5199+2788del
c.1931_1965+2788del
c.1793_1827+2788del
c.4355_4389+2788del
c.5120_5154+2788del
c.5309_5343+2788del
c.5102_5136+2788del
c.1805_1839+2788del
c.5306_5340+2788del
c.1630_1664+2788del
c.1817_1851+2788del
c.*5026_*5060+2788del
c.173_207+2788del
c.716_750+2788del
c.-98-6896_-98-4074del (n.-98-6896_-98-4074del)
n.5379_5413+2788del
n.5420_5454+2788del
17g.43054853_43063000delCA10602578BRCA1c.5190+340_5274+2206del
c.5193+340_5277+2206del
c.5067+340_5151+2206del
c.5187+340_5271+2206del
c.5115+340_5199+2206del
c.1881+340_1965+2206del
c.1743+340_1827+2206del
c.4305+340_4389+2206del
c.5070+340_5154+2206del
c.5259+340_5343+2206del
c.5052+340_5136+2206del
c.1755+340_1839+2206del
c.5256+340_5340+2206del
c.1580+340_1664+2206del
c.1767+340_1851+2206del
c.*4976+340_*5060+2206del
c.123+340_207+2206del
c.666+340_750+2206del
c.-98-12803_-98-4656del (n.-98-12803_-98-4656del)
n.5329+340_5413+2206del
n.5370+340_5454+2206del
 ClinVar
17g.43056382_43060705delCA16043345BRCA1c.5190+2628_5274+670del
c.5193+2628_5277+670del
c.5067+2628_5151+670del
c.5187+2628_5271+670del
c.5115+2628_5199+670del
c.1881+2628_1965+670del
c.1743+2628_1827+670del
c.4305+2628_4389+670del
c.5070+2628_5154+670del
c.5259+2628_5343+670del
c.5052+2628_5136+670del
c.1755+2628_1839+670del
c.5256+2628_5340+670del
c.1580+2628_1664+670del
c.1767+2628_1851+670del
c.*4976+2628_*5060+670del
c.123+2628_207+670del
c.666+2628_750+670del
c.-98-10515_-98-6192del (n.-98-10515_-98-6192del)
n.5329+2628_5413+670del
n.5370+2628_5454+670del
 ClinVar
17g.43057033T>ACA2733912863BRCA1c.5274+19A>T (n.5274+19A>T)
c.5277+19A>T (n.5277+19A>T)
c.5151+19A>T (n.5151+19A>T)
c.5271+19A>T (n.5271+19A>T)
c.5199+19A>T (n.5199+19A>T)
c.1965+19A>T (n.1965+19A>T)
c.1827+19A>T (n.1827+19A>T)
c.4389+19A>T (n.4389+19A>T)
c.5154+19A>T (n.5154+19A>T)
c.5343+19A>T (n.5343+19A>T)
c.5136+19A>T (n.5136+19A>T)
c.1839+19A>T (n.1839+19A>T)
c.5340+19A>T (n.5340+19A>T)
c.1664+19A>T
c.1851+19A>T (n.1851+19A>T)
c.*5060+19A>T (n.*5060+19A>T)
c.207+19A>T (n.207+19A>T)
c.750+19A>T (n.750+19A>T)
c.-98-6843A>T (n.-98-6843A>T)
n.5413+19A>T
n.5454+19A>T
 dbSNP
17g.43057033T>CCA2573153985BRCA1c.5274+19A>G (n.5274+19A>G)
c.5277+19A>G (n.5277+19A>G)
c.5151+19A>G (n.5151+19A>G)
c.5271+19A>G (n.5271+19A>G)
c.5199+19A>G (n.5199+19A>G)
c.1965+19A>G (n.1965+19A>G)
c.1827+19A>G (n.1827+19A>G)
c.4389+19A>G (n.4389+19A>G)
c.5154+19A>G (n.5154+19A>G)
c.5343+19A>G (n.5343+19A>G)
c.5136+19A>G (n.5136+19A>G)
c.1839+19A>G (n.1839+19A>G)
c.5340+19A>G (n.5340+19A>G)
c.1664+19A>G
c.1851+19A>G (n.1851+19A>G)
c.*5060+19A>G (n.*5060+19A>G)
c.207+19A>G (n.207+19A>G)
c.750+19A>G (n.750+19A>G)
c.-98-6843A>G (n.-98-6843A>G)
n.5413+19A>G
n.5454+19A>G
 ClinVar dbSNP
17g.43057033T>GCA2733912873BRCA1c.5274+19A>C (n.5274+19A>C)
c.5277+19A>C (n.5277+19A>C)
c.5151+19A>C (n.5151+19A>C)
c.5271+19A>C (n.5271+19A>C)
c.5199+19A>C (n.5199+19A>C)
c.1965+19A>C (n.1965+19A>C)
c.1827+19A>C (n.1827+19A>C)
c.4389+19A>C (n.4389+19A>C)
c.5154+19A>C (n.5154+19A>C)
c.5343+19A>C (n.5343+19A>C)
c.5136+19A>C (n.5136+19A>C)
c.1839+19A>C (n.1839+19A>C)
c.5340+19A>C (n.5340+19A>C)
c.1664+19A>C
c.1851+19A>C (n.1851+19A>C)
c.*5060+19A>C (n.*5060+19A>C)
c.207+19A>C (n.207+19A>C)
c.750+19A>C (n.750+19A>C)
c.-98-6843A>C (n.-98-6843A>C)
n.5413+19A>C
n.5454+19A>C
 dbSNP
17g.43057034T>ACA2499224362BRCA1c.5274+18A>T (n.5274+18A>T)
c.5277+18A>T (n.5277+18A>T)
c.5151+18A>T (n.5151+18A>T)
c.5271+18A>T (n.5271+18A>T)
c.5199+18A>T (n.5199+18A>T)
c.1965+18A>T (n.1965+18A>T)
c.1827+18A>T (n.1827+18A>T)
c.4389+18A>T (n.4389+18A>T)
c.5154+18A>T (n.5154+18A>T)
c.5343+18A>T (n.5343+18A>T)
c.5136+18A>T (n.5136+18A>T)
c.1839+18A>T (n.1839+18A>T)
c.5340+18A>T (n.5340+18A>T)
c.1664+18A>T
c.1851+18A>T (n.1851+18A>T)
c.*5060+18A>T (n.*5060+18A>T)
c.207+18A>T (n.207+18A>T)
c.750+18A>T (n.750+18A>T)
c.-98-6844A>T (n.-98-6844A>T)
n.5413+18A>T
n.5454+18A>T
 ClinVar dbSNP
17g.43057035G>ACA658656657BRCA1c.5274+17C>T (n.5274+17C>T)
c.5277+17C>T (n.5277+17C>T)
c.5151+17C>T (n.5151+17C>T)
c.5271+17C>T (n.5271+17C>T)
c.5199+17C>T (n.5199+17C>T)
c.1965+17C>T (n.1965+17C>T)
c.1827+17C>T (n.1827+17C>T)
c.4389+17C>T (n.4389+17C>T)
c.5154+17C>T (n.5154+17C>T)
c.5343+17C>T (n.5343+17C>T)
c.5136+17C>T (n.5136+17C>T)
c.1839+17C>T (n.1839+17C>T)
c.5340+17C>T (n.5340+17C>T)
c.1664+17C>T
c.1851+17C>T (n.1851+17C>T)
c.*5060+17C>T (n.*5060+17C>T)
c.207+17C>T (n.207+17C>T)
c.750+17C>T (n.750+17C>T)
c.-98-6845C>T (n.-98-6845C>T)
n.5413+17C>T
n.5454+17C>T
 ClinVar dbSNP gnomAD v4
17g.43057035G>CCA054309BRCA1c.5274+17C>G (n.5274+17C>G)
c.5277+17C>G (n.5277+17C>G)
c.5151+17C>G (n.5151+17C>G)
c.5271+17C>G (n.5271+17C>G)
c.5199+17C>G (n.5199+17C>G)
c.1965+17C>G (n.1965+17C>G)
c.1827+17C>G (n.1827+17C>G)
c.4389+17C>G (n.4389+17C>G)
c.5154+17C>G (n.5154+17C>G)
c.5343+17C>G (n.5343+17C>G)
c.5136+17C>G (n.5136+17C>G)
c.1839+17C>G (n.1839+17C>G)
c.5340+17C>G (n.5340+17C>G)
c.1664+17C>G
c.1851+17C>G (n.1851+17C>G)
c.*5060+17C>G (n.*5060+17C>G)
c.207+17C>G (n.207+17C>G)
c.750+17C>G (n.750+17C>G)
c.-98-6845C>G (n.-98-6845C>G)
n.5413+17C>G
n.5454+17C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.43057035G=CA2260766340BRCA1c.5274+17C= (n.5274+17C=)
c.5277+17C= (n.5277+17C=)
c.5151+17C= (n.5151+17C=)
c.5271+17C= (n.5271+17C=)
c.5199+17C= (n.5199+17C=)
c.1965+17C= (n.1965+17C=)
c.1827+17C= (n.1827+17C=)
c.4389+17C= (n.4389+17C=)
c.5154+17C= (n.5154+17C=)
c.5343+17C= (n.5343+17C=)
c.5136+17C= (n.5136+17C=)
c.1839+17C= (n.1839+17C=)
c.5340+17C= (n.5340+17C=)
c.1664+17C=
c.1851+17C= (n.1851+17C=)
c.*5060+17C= (n.*5060+17C=)
c.207+17C= (n.207+17C=)
c.750+17C= (n.750+17C=)
c.-98-6845C= (n.-98-6845C=)
n.5413+17C=
n.5454+17C=
17g.43057042_43057045delCA2580612667BRCA1c.5274+14_5274+17del (n.5274+14_5274+17del)
c.5277+14_5277+17del (n.5277+14_5277+17del)
c.5151+14_5151+17del (n.5151+14_5151+17del)
c.5271+14_5271+17del (n.5271+14_5271+17del)
c.5199+14_5199+17del (n.5199+14_5199+17del)
c.1965+14_1965+17del (n.1965+14_1965+17del)
c.1827+14_1827+17del (n.1827+14_1827+17del)
c.4389+14_4389+17del (n.4389+14_4389+17del)
c.5154+14_5154+17del (n.5154+14_5154+17del)
c.5343+14_5343+17del (n.5343+14_5343+17del)
c.5136+14_5136+17del (n.5136+14_5136+17del)
c.1839+14_1839+17del (n.1839+14_1839+17del)
c.5340+14_5340+17del (n.5340+14_5340+17del)
c.1664+14_1664+17del
c.1851+14_1851+17del (n.1851+14_1851+17del)
c.*5060+14_*5060+17del (n.*5060+14_*5060+17del)
c.207+14_207+17del (n.207+14_207+17del)
c.750+14_750+17del (n.750+14_750+17del)
c.-98-6848_-98-6845del (n.-98-6848_-98-6845del)
n.5413+14_5413+17del
n.5454+14_5454+17del
 ClinVar dbSNP
17g.43057036A>GCA2733912944BRCA1c.5274+16T>C (n.5274+16T>C)
c.5277+16T>C (n.5277+16T>C)
c.5151+16T>C (n.5151+16T>C)
c.5271+16T>C (n.5271+16T>C)
c.5199+16T>C (n.5199+16T>C)
c.1965+16T>C (n.1965+16T>C)
c.1827+16T>C (n.1827+16T>C)
c.4389+16T>C (n.4389+16T>C)
c.5154+16T>C (n.5154+16T>C)
c.5343+16T>C (n.5343+16T>C)
c.5136+16T>C (n.5136+16T>C)
c.1839+16T>C (n.1839+16T>C)
c.5340+16T>C (n.5340+16T>C)
c.1664+16T>C
c.1851+16T>C (n.1851+16T>C)
c.*5060+16T>C (n.*5060+16T>C)
c.207+16T>C (n.207+16T>C)
c.750+16T>C (n.750+16T>C)
c.-98-6846T>C (n.-98-6846T>C)
n.5413+16T>C
n.5454+16T>C
 dbSNP
17g.43057036A>TCA2733913002BRCA1c.5274+16T>A (n.5274+16T>A)
c.5277+16T>A (n.5277+16T>A)
c.5151+16T>A (n.5151+16T>A)
c.5271+16T>A (n.5271+16T>A)
c.5199+16T>A (n.5199+16T>A)
c.1965+16T>A (n.1965+16T>A)
c.1827+16T>A (n.1827+16T>A)
c.4389+16T>A (n.4389+16T>A)
c.5154+16T>A (n.5154+16T>A)
c.5343+16T>A (n.5343+16T>A)
c.5136+16T>A (n.5136+16T>A)
c.1839+16T>A (n.1839+16T>A)
c.5340+16T>A (n.5340+16T>A)
c.1664+16T>A
c.1851+16T>A (n.1851+16T>A)
c.*5060+16T>A (n.*5060+16T>A)
c.207+16T>A (n.207+16T>A)
c.750+16T>A (n.750+16T>A)
c.-98-6846T>A (n.-98-6846T>A)
n.5413+16T>A
n.5454+16T>A
 dbSNP
17g.43057037G>ACA054303BRCA1c.5274+15C>T (n.5274+15C>T)
c.5277+15C>T (n.5277+15C>T)
c.5151+15C>T (n.5151+15C>T)
c.5271+15C>T (n.5271+15C>T)
c.5199+15C>T (n.5199+15C>T)
c.1965+15C>T (n.1965+15C>T)
c.1827+15C>T (n.1827+15C>T)
c.4389+15C>T (n.4389+15C>T)
c.5154+15C>T (n.5154+15C>T)
c.5343+15C>T (n.5343+15C>T)
c.5136+15C>T (n.5136+15C>T)
c.1839+15C>T (n.1839+15C>T)
c.5340+15C>T (n.5340+15C>T)
c.1664+15C>T
c.1851+15C>T (n.1851+15C>T)
c.*5060+15C>T (n.*5060+15C>T)
c.207+15C>T (n.207+15C>T)
c.750+15C>T (n.750+15C>T)
c.-98-6847C>T (n.-98-6847C>T)
n.5413+15C>T
n.5454+15C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.43057037G=CA2260766341BRCA1c.5274+15C= (n.5274+15C=)
c.5277+15C= (n.5277+15C=)
c.5151+15C= (n.5151+15C=)
c.5271+15C= (n.5271+15C=)
c.5199+15C= (n.5199+15C=)
c.1965+15C= (n.1965+15C=)
c.1827+15C= (n.1827+15C=)
c.4389+15C= (n.4389+15C=)
c.5154+15C= (n.5154+15C=)
c.5343+15C= (n.5343+15C=)
c.5136+15C= (n.5136+15C=)
c.1839+15C= (n.1839+15C=)
c.5340+15C= (n.5340+15C=)
c.1664+15C=
c.1851+15C= (n.1851+15C=)
c.*5060+15C= (n.*5060+15C=)
c.207+15C= (n.207+15C=)
c.750+15C= (n.750+15C=)
c.-98-6847C= (n.-98-6847C=)
n.5413+15C=
n.5454+15C=
17g.43057037G>TCA658798058BRCA1c.5274+15C>A (n.5274+15C>A)
c.5277+15C>A (n.5277+15C>A)
c.5151+15C>A (n.5151+15C>A)
c.5271+15C>A (n.5271+15C>A)
c.5199+15C>A (n.5199+15C>A)
c.1965+15C>A (n.1965+15C>A)
c.1827+15C>A (n.1827+15C>A)
c.4389+15C>A (n.4389+15C>A)
c.5154+15C>A (n.5154+15C>A)
c.5343+15C>A (n.5343+15C>A)
c.5136+15C>A (n.5136+15C>A)
c.1839+15C>A (n.1839+15C>A)
c.5340+15C>A (n.5340+15C>A)
c.1664+15C>A
c.1851+15C>A (n.1851+15C>A)
c.*5060+15C>A (n.*5060+15C>A)
c.207+15C>A (n.207+15C>A)
c.750+15C>A (n.750+15C>A)
c.-98-6847C>A (n.-98-6847C>A)
n.5413+15C>A
n.5454+15C>A
 ClinVar dbSNP
17g.43057038G>ACA054299BRCA1c.5274+14C>T (n.5274+14C>T)
c.5277+14C>T (n.5277+14C>T)
c.5151+14C>T (n.5151+14C>T)
c.5271+14C>T (n.5271+14C>T)
c.5199+14C>T (n.5199+14C>T)
c.1965+14C>T (n.1965+14C>T)
c.1827+14C>T (n.1827+14C>T)
c.4389+14C>T (n.4389+14C>T)
c.5154+14C>T (n.5154+14C>T)
c.5343+14C>T (n.5343+14C>T)
c.5136+14C>T (n.5136+14C>T)
c.1839+14C>T (n.1839+14C>T)
c.5340+14C>T (n.5340+14C>T)
c.1664+14C>T
c.1851+14C>T (n.1851+14C>T)
c.*5060+14C>T (n.*5060+14C>T)
c.207+14C>T (n.207+14C>T)
c.750+14C>T (n.750+14C>T)
c.-98-6848C>T (n.-98-6848C>T)
n.5413+14C>T
n.5454+14C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.43057038G>CCA2733648027BRCA1c.5274+14C>G (n.5274+14C>G)
c.5277+14C>G (n.5277+14C>G)
c.5151+14C>G (n.5151+14C>G)
c.5271+14C>G (n.5271+14C>G)
c.5199+14C>G (n.5199+14C>G)
c.1965+14C>G (n.1965+14C>G)
c.1827+14C>G (n.1827+14C>G)
c.4389+14C>G (n.4389+14C>G)
c.5154+14C>G (n.5154+14C>G)
c.5343+14C>G (n.5343+14C>G)
c.5136+14C>G (n.5136+14C>G)
c.1839+14C>G (n.1839+14C>G)
c.5340+14C>G (n.5340+14C>G)
c.1664+14C>G
c.1851+14C>G (n.1851+14C>G)
c.*5060+14C>G (n.*5060+14C>G)
c.207+14C>G (n.207+14C>G)
c.750+14C>G (n.750+14C>G)
c.-98-6848C>G (n.-98-6848C>G)
n.5413+14C>G
n.5454+14C>G
 dbSNP
17g.43057038G=CA2260766342BRCA1c.5274+14C= (n.5274+14C=)
c.5277+14C= (n.5277+14C=)
c.5151+14C= (n.5151+14C=)
c.5271+14C= (n.5271+14C=)
c.5199+14C= (n.5199+14C=)
c.1965+14C= (n.1965+14C=)
c.1827+14C= (n.1827+14C=)
c.4389+14C= (n.4389+14C=)
c.5154+14C= (n.5154+14C=)
c.5343+14C= (n.5343+14C=)
c.5136+14C= (n.5136+14C=)
c.1839+14C= (n.1839+14C=)
c.5340+14C= (n.5340+14C=)
c.1664+14C=
c.1851+14C= (n.1851+14C=)
c.*5060+14C= (n.*5060+14C=)
c.207+14C= (n.207+14C=)
c.750+14C= (n.750+14C=)
c.-98-6848C= (n.-98-6848C=)
n.5413+14C=
n.5454+14C=
17g.43057038G>TCA913187796BRCA1c.5274+14C>A (n.5274+14C>A)
c.5277+14C>A (n.5277+14C>A)
c.5151+14C>A (n.5151+14C>A)
c.5271+14C>A (n.5271+14C>A)
c.5199+14C>A (n.5199+14C>A)
c.1965+14C>A (n.1965+14C>A)
c.1827+14C>A (n.1827+14C>A)
c.4389+14C>A (n.4389+14C>A)
c.5154+14C>A (n.5154+14C>A)
c.5343+14C>A (n.5343+14C>A)
c.5136+14C>A (n.5136+14C>A)
c.1839+14C>A (n.1839+14C>A)
c.5340+14C>A (n.5340+14C>A)
c.1664+14C>A
c.1851+14C>A (n.1851+14C>A)
c.*5060+14C>A (n.*5060+14C>A)
c.207+14C>A (n.207+14C>A)
c.750+14C>A (n.750+14C>A)
c.-98-6848C>A (n.-98-6848C>A)
n.5413+14C>A
n.5454+14C>A
 ClinVar dbSNP
17g.43057039G>ACA2638061227BRCA1c.5274+13C>T (n.5274+13C>T)
c.5277+13C>T (n.5277+13C>T)
c.5151+13C>T (n.5151+13C>T)
c.5271+13C>T (n.5271+13C>T)
c.5199+13C>T (n.5199+13C>T)
c.1965+13C>T (n.1965+13C>T)
c.1827+13C>T (n.1827+13C>T)
c.4389+13C>T (n.4389+13C>T)
c.5154+13C>T (n.5154+13C>T)
c.5343+13C>T (n.5343+13C>T)
c.5136+13C>T (n.5136+13C>T)
c.1839+13C>T (n.1839+13C>T)
c.5340+13C>T (n.5340+13C>T)
c.1664+13C>T
c.1851+13C>T (n.1851+13C>T)
c.*5060+13C>T (n.*5060+13C>T)
c.207+13C>T (n.207+13C>T)
c.750+13C>T (n.750+13C>T)
c.-98-6849C>T (n.-98-6849C>T)
n.5413+13C>T
n.5454+13C>T
 dbSNP gnomAD v4
17g.43057039G>CCA2733913027BRCA1c.5274+13C>G (n.5274+13C>G)
c.5277+13C>G (n.5277+13C>G)
c.5151+13C>G (n.5151+13C>G)
c.5271+13C>G (n.5271+13C>G)
c.5199+13C>G (n.5199+13C>G)
c.1965+13C>G (n.1965+13C>G)
c.1827+13C>G (n.1827+13C>G)
c.4389+13C>G (n.4389+13C>G)
c.5154+13C>G (n.5154+13C>G)
c.5343+13C>G (n.5343+13C>G)
c.5136+13C>G (n.5136+13C>G)
c.1839+13C>G (n.1839+13C>G)
c.5340+13C>G (n.5340+13C>G)
c.1664+13C>G
c.1851+13C>G (n.1851+13C>G)
c.*5060+13C>G (n.*5060+13C>G)
c.207+13C>G (n.207+13C>G)
c.750+13C>G (n.750+13C>G)
c.-98-6849C>G (n.-98-6849C>G)
n.5413+13C>G
n.5454+13C>G
 dbSNP
17g.43057040A>GCA2733913047BRCA1c.5274+12T>C (n.5274+12T>C)
c.5277+12T>C (n.5277+12T>C)
c.5151+12T>C (n.5151+12T>C)
c.5271+12T>C (n.5271+12T>C)
c.5199+12T>C (n.5199+12T>C)
c.1965+12T>C (n.1965+12T>C)
c.1827+12T>C (n.1827+12T>C)
c.4389+12T>C (n.4389+12T>C)
c.5154+12T>C (n.5154+12T>C)
c.5343+12T>C (n.5343+12T>C)
c.5136+12T>C (n.5136+12T>C)
c.1839+12T>C (n.1839+12T>C)
c.5340+12T>C (n.5340+12T>C)
c.1664+12T>C
c.1851+12T>C (n.1851+12T>C)
c.*5060+12T>C (n.*5060+12T>C)
c.207+12T>C (n.207+12T>C)
c.750+12T>C (n.750+12T>C)
c.-98-6850T>C (n.-98-6850T>C)
n.5413+12T>C
n.5454+12T>C
 dbSNP
17g.43057040A>TCA2733913089BRCA1c.5274+12T>A (n.5274+12T>A)
c.5277+12T>A (n.5277+12T>A)
c.5151+12T>A (n.5151+12T>A)
c.5271+12T>A (n.5271+12T>A)
c.5199+12T>A (n.5199+12T>A)
c.1965+12T>A (n.1965+12T>A)
c.1827+12T>A (n.1827+12T>A)
c.4389+12T>A (n.4389+12T>A)
c.5154+12T>A (n.5154+12T>A)
c.5343+12T>A (n.5343+12T>A)
c.5136+12T>A (n.5136+12T>A)
c.1839+12T>A (n.1839+12T>A)
c.5340+12T>A (n.5340+12T>A)
c.1664+12T>A
c.1851+12T>A (n.1851+12T>A)
c.*5060+12T>A (n.*5060+12T>A)
c.207+12T>A (n.207+12T>A)
c.750+12T>A (n.750+12T>A)
c.-98-6850T>A (n.-98-6850T>A)
n.5413+12T>A
n.5454+12T>A
 dbSNP
17g.43057041G>ACA658684091BRCA1c.5274+11C>T (n.5274+11C>T)
c.5277+11C>T (n.5277+11C>T)
c.5151+11C>T (n.5151+11C>T)
c.5271+11C>T (n.5271+11C>T)
c.5199+11C>T (n.5199+11C>T)
c.1965+11C>T (n.1965+11C>T)
c.1827+11C>T (n.1827+11C>T)
c.4389+11C>T (n.4389+11C>T)
c.5154+11C>T (n.5154+11C>T)
c.5343+11C>T (n.5343+11C>T)
c.5136+11C>T (n.5136+11C>T)
c.1839+11C>T (n.1839+11C>T)
c.5340+11C>T (n.5340+11C>T)
c.1664+11C>T
c.1851+11C>T (n.1851+11C>T)
c.*5060+11C>T (n.*5060+11C>T)
c.207+11C>T (n.207+11C>T)
c.750+11C>T (n.750+11C>T)
c.-98-6851C>T (n.-98-6851C>T)
n.5413+11C>T
n.5454+11C>T
 ClinVar dbSNP gnomAD v4
17g.43057041G>CCA2733676136BRCA1c.5274+11C>G (n.5274+11C>G)
c.5277+11C>G (n.5277+11C>G)
c.5151+11C>G (n.5151+11C>G)
c.5271+11C>G (n.5271+11C>G)
c.5199+11C>G (n.5199+11C>G)
c.1965+11C>G (n.1965+11C>G)
c.1827+11C>G (n.1827+11C>G)
c.4389+11C>G (n.4389+11C>G)
c.5154+11C>G (n.5154+11C>G)
c.5343+11C>G (n.5343+11C>G)
c.5136+11C>G (n.5136+11C>G)
c.1839+11C>G (n.1839+11C>G)
c.5340+11C>G (n.5340+11C>G)
c.1664+11C>G
c.1851+11C>G (n.1851+11C>G)
c.*5060+11C>G (n.*5060+11C>G)
c.207+11C>G (n.207+11C>G)
c.750+11C>G (n.750+11C>G)
c.-98-6851C>G (n.-98-6851C>G)
n.5413+11C>G
n.5454+11C>G
 dbSNP
17g.43057041G=CA2260766343BRCA1c.5274+11C= (n.5274+11C=)
c.5277+11C= (n.5277+11C=)
c.5151+11C= (n.5151+11C=)
c.5271+11C= (n.5271+11C=)
c.5199+11C= (n.5199+11C=)
c.1965+11C= (n.1965+11C=)
c.1827+11C= (n.1827+11C=)
c.4389+11C= (n.4389+11C=)
c.5154+11C= (n.5154+11C=)
c.5343+11C= (n.5343+11C=)
c.5136+11C= (n.5136+11C=)
c.1839+11C= (n.1839+11C=)
c.5340+11C= (n.5340+11C=)
c.1664+11C=
c.1851+11C= (n.1851+11C=)
c.*5060+11C= (n.*5060+11C=)
c.207+11C= (n.207+11C=)
c.750+11C= (n.750+11C=)
c.-98-6851C= (n.-98-6851C=)
n.5413+11C=
n.5454+11C=
17g.43057041G>TCA2733676139BRCA1c.5274+11C>A (n.5274+11C>A)
c.5277+11C>A (n.5277+11C>A)
c.5151+11C>A (n.5151+11C>A)
c.5271+11C>A (n.5271+11C>A)
c.5199+11C>A (n.5199+11C>A)
c.1965+11C>A (n.1965+11C>A)
c.1827+11C>A (n.1827+11C>A)
c.4389+11C>A (n.4389+11C>A)
c.5154+11C>A (n.5154+11C>A)
c.5343+11C>A (n.5343+11C>A)
c.5136+11C>A (n.5136+11C>A)
c.1839+11C>A (n.1839+11C>A)
c.5340+11C>A (n.5340+11C>A)
c.1664+11C>A
c.1851+11C>A (n.1851+11C>A)
c.*5060+11C>A (n.*5060+11C>A)
c.207+11C>A (n.207+11C>A)
c.750+11C>A (n.750+11C>A)
c.-98-6851C>A (n.-98-6851C>A)
n.5413+11C>A
n.5454+11C>A
 dbSNP
17g.43057042G>ACA913187797BRCA1c.5274+10C>T (n.5274+10C>T)
c.5277+10C>T (n.5277+10C>T)
c.5151+10C>T (n.5151+10C>T)
c.5271+10C>T (n.5271+10C>T)
c.5199+10C>T (n.5199+10C>T)
c.1965+10C>T (n.1965+10C>T)
c.1827+10C>T (n.1827+10C>T)
c.4389+10C>T (n.4389+10C>T)
c.5154+10C>T (n.5154+10C>T)
c.5343+10C>T (n.5343+10C>T)
c.5136+10C>T (n.5136+10C>T)
c.1839+10C>T (n.1839+10C>T)
c.5340+10C>T (n.5340+10C>T)
c.1664+10C>T
c.1851+10C>T (n.1851+10C>T)
c.*5060+10C>T (n.*5060+10C>T)
c.207+10C>T (n.207+10C>T)
c.750+10C>T (n.750+10C>T)
c.-98-6852C>T (n.-98-6852C>T)
n.5413+10C>T
n.5454+10C>T
 ClinVar dbSNP
17g.43057042G>CCA916081116BRCA1c.5274+10C>G (n.5274+10C>G)
c.5277+10C>G (n.5277+10C>G)
c.5151+10C>G (n.5151+10C>G)
c.5271+10C>G (n.5271+10C>G)
c.5199+10C>G (n.5199+10C>G)
c.1965+10C>G (n.1965+10C>G)
c.1827+10C>G (n.1827+10C>G)
c.4389+10C>G (n.4389+10C>G)
c.5154+10C>G (n.5154+10C>G)
c.5343+10C>G (n.5343+10C>G)
c.5136+10C>G (n.5136+10C>G)
c.1839+10C>G (n.1839+10C>G)
c.5340+10C>G (n.5340+10C>G)
c.1664+10C>G
c.1851+10C>G (n.1851+10C>G)
c.*5060+10C>G (n.*5060+10C>G)
c.207+10C>G (n.207+10C>G)
c.750+10C>G (n.750+10C>G)
c.-98-6852C>G (n.-98-6852C>G)
n.5413+10C>G
n.5454+10C>G
 ClinVar dbSNP
17g.43057042G=CA2260766344BRCA1c.5274+10C= (n.5274+10C=)
c.5277+10C= (n.5277+10C=)
c.5151+10C= (n.5151+10C=)
c.5271+10C= (n.5271+10C=)
c.5199+10C= (n.5199+10C=)
c.1965+10C= (n.1965+10C=)
c.1827+10C= (n.1827+10C=)
c.4389+10C= (n.4389+10C=)
c.5154+10C= (n.5154+10C=)
c.5343+10C= (n.5343+10C=)
c.5136+10C= (n.5136+10C=)
c.1839+10C= (n.1839+10C=)
c.5340+10C= (n.5340+10C=)
c.1664+10C=
c.1851+10C= (n.1851+10C=)
c.*5060+10C= (n.*5060+10C=)
c.207+10C= (n.207+10C=)
c.750+10C= (n.750+10C=)
c.-98-6852C= (n.-98-6852C=)
n.5413+10C=
n.5454+10C=
17g.43057042G>TCA2733692435BRCA1c.5274+10C>A (n.5274+10C>A)
c.5277+10C>A (n.5277+10C>A)
c.5151+10C>A (n.5151+10C>A)
c.5271+10C>A (n.5271+10C>A)
c.5199+10C>A (n.5199+10C>A)
c.1965+10C>A (n.1965+10C>A)
c.1827+10C>A (n.1827+10C>A)
c.4389+10C>A (n.4389+10C>A)
c.5154+10C>A (n.5154+10C>A)
c.5343+10C>A (n.5343+10C>A)
c.5136+10C>A (n.5136+10C>A)
c.1839+10C>A (n.1839+10C>A)
c.5340+10C>A (n.5340+10C>A)
c.1664+10C>A
c.1851+10C>A (n.1851+10C>A)
c.*5060+10C>A (n.*5060+10C>A)
c.207+10C>A (n.207+10C>A)
c.750+10C>A (n.750+10C>A)
c.-98-6852C>A (n.-98-6852C>A)
n.5413+10C>A
n.5454+10C>A
 dbSNP
17g.43057043G>ACA916081118BRCA1c.5274+9C>T (n.5274+9C>T)
c.5277+9C>T (n.5277+9C>T)
c.5151+9C>T (n.5151+9C>T)
c.5271+9C>T (n.5271+9C>T)
c.5199+9C>T (n.5199+9C>T)
c.1965+9C>T (n.1965+9C>T)
c.1827+9C>T (n.1827+9C>T)
c.4389+9C>T (n.4389+9C>T)
c.5154+9C>T (n.5154+9C>T)
c.5343+9C>T (n.5343+9C>T)
c.5136+9C>T (n.5136+9C>T)
c.1839+9C>T (n.1839+9C>T)
c.5340+9C>T (n.5340+9C>T)
c.1664+9C>T
c.1851+9C>T (n.1851+9C>T)
c.*5060+9C>T (n.*5060+9C>T)
c.207+9C>T (n.207+9C>T)
c.750+9C>T (n.750+9C>T)
c.-98-6853C>T (n.-98-6853C>T)
n.5413+9C>T
n.5454+9C>T
 ClinVar dbSNP gnomAD v4
17g.43057043G>CCA658798059BRCA1c.5274+9C>G (n.5274+9C>G)
c.5277+9C>G (n.5277+9C>G)
c.5151+9C>G (n.5151+9C>G)
c.5271+9C>G (n.5271+9C>G)
c.5199+9C>G (n.5199+9C>G)
c.1965+9C>G (n.1965+9C>G)
c.1827+9C>G (n.1827+9C>G)
c.4389+9C>G (n.4389+9C>G)
c.5154+9C>G (n.5154+9C>G)
c.5343+9C>G (n.5343+9C>G)
c.5136+9C>G (n.5136+9C>G)
c.1839+9C>G (n.1839+9C>G)
c.5340+9C>G (n.5340+9C>G)
c.1664+9C>G
c.1851+9C>G (n.1851+9C>G)
c.*5060+9C>G (n.*5060+9C>G)
c.207+9C>G (n.207+9C>G)
c.750+9C>G (n.750+9C>G)
c.-98-6853C>G (n.-98-6853C>G)
n.5413+9C>G
n.5454+9C>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.43057043G=CA2260766345BRCA1c.5274+9C= (n.5274+9C=)
c.5277+9C= (n.5277+9C=)
c.5151+9C= (n.5151+9C=)
c.5271+9C= (n.5271+9C=)
c.5199+9C= (n.5199+9C=)
c.1965+9C= (n.1965+9C=)
c.1827+9C= (n.1827+9C=)
c.4389+9C= (n.4389+9C=)
c.5154+9C= (n.5154+9C=)
c.5343+9C= (n.5343+9C=)
c.5136+9C= (n.5136+9C=)
c.1839+9C= (n.1839+9C=)
c.5340+9C= (n.5340+9C=)
c.1664+9C=
c.1851+9C= (n.1851+9C=)
c.*5060+9C= (n.*5060+9C=)
c.207+9C= (n.207+9C=)
c.750+9C= (n.750+9C=)
c.-98-6853C= (n.-98-6853C=)
n.5413+9C=
n.5454+9C=
17g.43057043G>TCA916081117BRCA1c.5274+9C>A (n.5274+9C>A)
c.5277+9C>A (n.5277+9C>A)
c.5151+9C>A (n.5151+9C>A)
c.5271+9C>A (n.5271+9C>A)
c.5199+9C>A (n.5199+9C>A)
c.1965+9C>A (n.1965+9C>A)
c.1827+9C>A (n.1827+9C>A)
c.4389+9C>A (n.4389+9C>A)
c.5154+9C>A (n.5154+9C>A)
c.5343+9C>A (n.5343+9C>A)
c.5136+9C>A (n.5136+9C>A)
c.1839+9C>A (n.1839+9C>A)
c.5340+9C>A (n.5340+9C>A)
c.1664+9C>A
c.1851+9C>A (n.1851+9C>A)
c.*5060+9C>A (n.*5060+9C>A)
c.207+9C>A (n.207+9C>A)
c.750+9C>A (n.750+9C>A)
c.-98-6853C>A (n.-98-6853C>A)
n.5413+9C>A
n.5454+9C>A
 ClinVar dbSNP
17g.43057044A=CA2260766346BRCA1c.5274+8T= (n.5274+8T=)
c.5277+8T= (n.5277+8T=)
c.5151+8T= (n.5151+8T=)
c.5271+8T= (n.5271+8T=)
c.5199+8T= (n.5199+8T=)
c.1965+8T= (n.1965+8T=)
c.1827+8T= (n.1827+8T=)
c.4389+8T= (n.4389+8T=)
c.5154+8T= (n.5154+8T=)
c.5343+8T= (n.5343+8T=)
c.5136+8T= (n.5136+8T=)
c.1839+8T= (n.1839+8T=)
c.5340+8T= (n.5340+8T=)
c.1664+8T=
c.1851+8T= (n.1851+8T=)
c.*5060+8T= (n.*5060+8T=)
c.207+8T= (n.207+8T=)
c.750+8T= (n.750+8T=)
c.-98-6854T= (n.-98-6854T=)
n.5413+8T=
n.5454+8T=
17g.43057044A>CCA916081121BRCA1c.5274+8T>G (n.5274+8T>G)
c.5277+8T>G (n.5277+8T>G)
c.5151+8T>G (n.5151+8T>G)
c.5271+8T>G (n.5271+8T>G)
c.5199+8T>G (n.5199+8T>G)
c.1965+8T>G (n.1965+8T>G)
c.1827+8T>G (n.1827+8T>G)
c.4389+8T>G (n.4389+8T>G)
c.5154+8T>G (n.5154+8T>G)
c.5343+8T>G (n.5343+8T>G)
c.5136+8T>G (n.5136+8T>G)
c.1839+8T>G (n.1839+8T>G)
c.5340+8T>G (n.5340+8T>G)
c.1664+8T>G
c.1851+8T>G (n.1851+8T>G)
c.*5060+8T>G (n.*5060+8T>G)
c.207+8T>G (n.207+8T>G)
c.750+8T>G (n.750+8T>G)
c.-98-6854T>G (n.-98-6854T>G)
n.5413+8T>G
n.5454+8T>G
 ClinVar dbSNP
17g.43057044A>GCA916081120BRCA1c.5274+8T>C (n.5274+8T>C)
c.5277+8T>C (n.5277+8T>C)
c.5151+8T>C (n.5151+8T>C)
c.5271+8T>C (n.5271+8T>C)
c.5199+8T>C (n.5199+8T>C)
c.1965+8T>C (n.1965+8T>C)
c.1827+8T>C (n.1827+8T>C)
c.4389+8T>C (n.4389+8T>C)
c.5154+8T>C (n.5154+8T>C)
c.5343+8T>C (n.5343+8T>C)
c.5136+8T>C (n.5136+8T>C)
c.1839+8T>C (n.1839+8T>C)
c.5340+8T>C (n.5340+8T>C)
c.1664+8T>C
c.1851+8T>C (n.1851+8T>C)
c.*5060+8T>C (n.*5060+8T>C)
c.207+8T>C (n.207+8T>C)
c.750+8T>C (n.750+8T>C)
c.-98-6854T>C (n.-98-6854T>C)
n.5413+8T>C
n.5454+8T>C
 ClinVar dbSNP
17g.43057044A>TCA916081119BRCA1c.5274+8T>A (n.5274+8T>A)
c.5277+8T>A (n.5277+8T>A)
c.5151+8T>A (n.5151+8T>A)
c.5271+8T>A (n.5271+8T>A)
c.5199+8T>A (n.5199+8T>A)
c.1965+8T>A (n.1965+8T>A)
c.1827+8T>A (n.1827+8T>A)
c.4389+8T>A (n.4389+8T>A)
c.5154+8T>A (n.5154+8T>A)
c.5343+8T>A (n.5343+8T>A)
c.5136+8T>A (n.5136+8T>A)
c.1839+8T>A (n.1839+8T>A)
c.5340+8T>A (n.5340+8T>A)
c.1664+8T>A
c.1851+8T>A (n.1851+8T>A)
c.*5060+8T>A (n.*5060+8T>A)
c.207+8T>A (n.207+8T>A)
c.750+8T>A (n.750+8T>A)
c.-98-6854T>A (n.-98-6854T>A)
n.5413+8T>A
n.5454+8T>A
 ClinVar dbSNP
17g.43057045G>ACA915950050BRCA1c.5274+7C>T (n.5274+7C>T)
c.5277+7C>T (n.5277+7C>T)
c.5151+7C>T (n.5151+7C>T)
c.5271+7C>T (n.5271+7C>T)
c.5199+7C>T (n.5199+7C>T)
c.1965+7C>T (n.1965+7C>T)
c.1827+7C>T (n.1827+7C>T)
c.4389+7C>T (n.4389+7C>T)
c.5154+7C>T (n.5154+7C>T)
c.5343+7C>T (n.5343+7C>T)
c.5136+7C>T (n.5136+7C>T)
c.1839+7C>T (n.1839+7C>T)
c.5340+7C>T (n.5340+7C>T)
c.1664+7C>T
c.1851+7C>T (n.1851+7C>T)
c.*5060+7C>T (n.*5060+7C>T)
c.207+7C>T (n.207+7C>T)
c.750+7C>T (n.750+7C>T)
c.-98-6855C>T (n.-98-6855C>T)
n.5413+7C>T
n.5454+7C>T
 ClinVar dbSNP
17g.43057045G>CCA916081122BRCA1c.5274+7C>G (n.5274+7C>G)
c.5277+7C>G (n.5277+7C>G)
c.5151+7C>G (n.5151+7C>G)
c.5271+7C>G (n.5271+7C>G)
c.5199+7C>G (n.5199+7C>G)
c.1965+7C>G (n.1965+7C>G)
c.1827+7C>G (n.1827+7C>G)
c.4389+7C>G (n.4389+7C>G)
c.5154+7C>G (n.5154+7C>G)
c.5343+7C>G (n.5343+7C>G)
c.5136+7C>G (n.5136+7C>G)
c.1839+7C>G (n.1839+7C>G)
c.5340+7C>G (n.5340+7C>G)
c.1664+7C>G
c.1851+7C>G (n.1851+7C>G)
c.*5060+7C>G (n.*5060+7C>G)
c.207+7C>G (n.207+7C>G)
c.750+7C>G (n.750+7C>G)
c.-98-6855C>G (n.-98-6855C>G)
n.5413+7C>G
n.5454+7C>G
 ClinVar dbSNP
17g.43057045G=CA2260766348BRCA1c.5274+7C= (n.5274+7C=)
c.5277+7C= (n.5277+7C=)
c.5151+7C= (n.5151+7C=)
c.5271+7C= (n.5271+7C=)
c.5199+7C= (n.5199+7C=)
c.1965+7C= (n.1965+7C=)
c.1827+7C= (n.1827+7C=)
c.4389+7C= (n.4389+7C=)
c.5154+7C= (n.5154+7C=)
c.5343+7C= (n.5343+7C=)
c.5136+7C= (n.5136+7C=)
c.1839+7C= (n.1839+7C=)
c.5340+7C= (n.5340+7C=)
c.1664+7C=
c.1851+7C= (n.1851+7C=)
c.*5060+7C= (n.*5060+7C=)
c.207+7C= (n.207+7C=)
c.750+7C= (n.750+7C=)
c.-98-6855C= (n.-98-6855C=)
n.5413+7C=
n.5454+7C=
17g.43057045G>TCA916081123BRCA1c.5274+7C>A (n.5274+7C>A)
c.5277+7C>A (n.5277+7C>A)
c.5151+7C>A (n.5151+7C>A)
c.5271+7C>A (n.5271+7C>A)
c.5199+7C>A (n.5199+7C>A)
c.1965+7C>A (n.1965+7C>A)
c.1827+7C>A (n.1827+7C>A)
c.4389+7C>A (n.4389+7C>A)
c.5154+7C>A (n.5154+7C>A)
c.5343+7C>A (n.5343+7C>A)
c.5136+7C>A (n.5136+7C>A)
c.1839+7C>A (n.1839+7C>A)
c.5340+7C>A (n.5340+7C>A)
c.1664+7C>A
c.1851+7C>A (n.1851+7C>A)
c.*5060+7C>A (n.*5060+7C>A)
c.207+7C>A (n.207+7C>A)
c.750+7C>A (n.750+7C>A)
c.-98-6855C>A (n.-98-6855C>A)
n.5413+7C>A
n.5454+7C>A
 ClinVar dbSNP
17g.43057045_43057051delinsGCTTTACCA2260766347BRCA1c.5274+1_5274+7delinsGTAAAGC (n.5274+1_5274+7delinsGTAAAGC)
c.5277+1_5277+7delinsGTAAAGC (n.5277+1_5277+7delinsGTAAAGC)
c.5151+1_5151+7delinsGTAAAGC (n.5151+1_5151+7delinsGTAAAGC)
c.5271+1_5271+7delinsGTAAAGC (n.5271+1_5271+7delinsGTAAAGC)
c.5199+1_5199+7delinsGTAAAGC (n.5199+1_5199+7delinsGTAAAGC)
c.1965+1_1965+7delinsGTAAAGC (n.1965+1_1965+7delinsGTAAAGC)
c.1827+1_1827+7delinsGTAAAGC (n.1827+1_1827+7delinsGTAAAGC)
c.4389+1_4389+7delinsGTAAAGC (n.4389+1_4389+7delinsGTAAAGC)
c.5154+1_5154+7delinsGTAAAGC (n.5154+1_5154+7delinsGTAAAGC)
c.5343+1_5343+7delinsGTAAAGC (n.5343+1_5343+7delinsGTAAAGC)
c.5136+1_5136+7delinsGTAAAGC (n.5136+1_5136+7delinsGTAAAGC)
c.1839+1_1839+7delinsGTAAAGC (n.1839+1_1839+7delinsGTAAAGC)
c.5340+1_5340+7delinsGTAAAGC (n.5340+1_5340+7delinsGTAAAGC)
c.1664+1_1664+7delinsGTAAAGC
c.1851+1_1851+7delinsGTAAAGC (n.1851+1_1851+7delinsGTAAAGC)
c.*5060+1_*5060+7delinsGTAAAGC (n.*5060+1_*5060+7delinsGTAAAGC)
c.207+1_207+7delinsGTAAAGC (n.207+1_207+7delinsGTAAAGC)
c.750+1_750+7delinsGTAAAGC (n.750+1_750+7delinsGTAAAGC)
c.-98-6861_-98-6855delinsGTAAAGC (n.-98-6861_-98-6855delinsGTAAAGC)
n.5413+1_5413+7delinsGTAAAGC
n.5454+1_5454+7delinsGTAAAGC
17g.43057046C>ACA16608433BRCA1c.5274+6G>T (n.5274+6G>T)
c.5277+6G>T (n.5277+6G>T)
c.5151+6G>T (n.5151+6G>T)
c.5271+6G>T (n.5271+6G>T)
c.5199+6G>T (n.5199+6G>T)
c.1965+6G>T (n.1965+6G>T)
c.1827+6G>T (n.1827+6G>T)
c.4389+6G>T (n.4389+6G>T)
c.5154+6G>T (n.5154+6G>T)
c.5343+6G>T (n.5343+6G>T)
c.5136+6G>T (n.5136+6G>T)
c.1839+6G>T (n.1839+6G>T)
c.5340+6G>T (n.5340+6G>T)
c.1664+6G>T
c.1851+6G>T (n.1851+6G>T)
c.*5060+6G>T (n.*5060+6G>T)
c.207+6G>T (n.207+6G>T)
c.750+6G>T (n.750+6G>T)
c.-98-6856G>T (n.-98-6856G>T)
n.5413+6G>T
n.5454+6G>T
 ClinVar dbSNP
17g.43057046C=CA2260766349BRCA1c.5274+6G= (n.5274+6G=)
c.5277+6G= (n.5277+6G=)
c.5151+6G= (n.5151+6G=)
c.5271+6G= (n.5271+6G=)
c.5199+6G= (n.5199+6G=)
c.1965+6G= (n.1965+6G=)
c.1827+6G= (n.1827+6G=)
c.4389+6G= (n.4389+6G=)
c.5154+6G= (n.5154+6G=)
c.5343+6G= (n.5343+6G=)
c.5136+6G= (n.5136+6G=)
c.1839+6G= (n.1839+6G=)
c.5340+6G= (n.5340+6G=)
c.1664+6G=
c.1851+6G= (n.1851+6G=)
c.*5060+6G= (n.*5060+6G=)
c.207+6G= (n.207+6G=)
c.750+6G= (n.750+6G=)
c.-98-6856G= (n.-98-6856G=)
n.5413+6G=
n.5454+6G=
17g.43057046C>GCA916081124BRCA1c.5274+6G>C (n.5274+6G>C)
c.5277+6G>C (n.5277+6G>C)
c.5151+6G>C (n.5151+6G>C)
c.5271+6G>C (n.5271+6G>C)
c.5199+6G>C (n.5199+6G>C)
c.1965+6G>C (n.1965+6G>C)
c.1827+6G>C (n.1827+6G>C)
c.4389+6G>C (n.4389+6G>C)
c.5154+6G>C (n.5154+6G>C)
c.5343+6G>C (n.5343+6G>C)
c.5136+6G>C (n.5136+6G>C)
c.1839+6G>C (n.1839+6G>C)
c.5340+6G>C (n.5340+6G>C)
c.1664+6G>C
c.1851+6G>C (n.1851+6G>C)
c.*5060+6G>C (n.*5060+6G>C)
c.207+6G>C (n.207+6G>C)
c.750+6G>C (n.750+6G>C)
c.-98-6856G>C (n.-98-6856G>C)
n.5413+6G>C
n.5454+6G>C
 ClinVar dbSNP gnomAD v4
17g.43057046C>TCA626078974BRCA1c.5274+6G>A (n.5274+6G>A)
c.5277+6G>A (n.5277+6G>A)
c.5151+6G>A (n.5151+6G>A)
c.5271+6G>A (n.5271+6G>A)
c.5199+6G>A (n.5199+6G>A)
c.1965+6G>A (n.1965+6G>A)
c.1827+6G>A (n.1827+6G>A)
c.4389+6G>A (n.4389+6G>A)
c.5154+6G>A (n.5154+6G>A)
c.5343+6G>A (n.5343+6G>A)
c.5136+6G>A (n.5136+6G>A)
c.1839+6G>A (n.1839+6G>A)
c.5340+6G>A (n.5340+6G>A)
c.1664+6G>A
c.1851+6G>A (n.1851+6G>A)
c.*5060+6G>A (n.*5060+6G>A)
c.207+6G>A (n.207+6G>A)
c.750+6G>A (n.750+6G>A)
c.-98-6856G>A (n.-98-6856G>A)
n.5413+6G>A
n.5454+6G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.43057050_43057055delCA16615648BRCA1c.5274+1_5274+6del
c.5277+1_5277+6del
c.5151+1_5151+6del
c.5271+1_5271+6del
c.5199+1_5199+6del
c.1965+1_1965+6del
c.1827+1_1827+6del
c.4389+1_4389+6del
c.5154+1_5154+6del
c.5343+1_5343+6del
c.5136+1_5136+6del
c.1839+1_1839+6del
c.5340+1_5340+6del
c.1664+1_1664+6del
c.1851+1_1851+6del
c.*5060+1_*5060+6del
c.207+1_207+6del
c.750+1_750+6del
c.-98-6861_-98-6856del (n.-98-6861_-98-6856del)
n.5413+1_5413+6del
n.5454+1_5454+6del
 ClinVar dbSNP
17g.43057047T>ACA003426BRCA1c.5274+5A>T (n.5274+5A>T)
c.5277+5A>T (n.5277+5A>T)
c.5151+5A>T (n.5151+5A>T)
c.5271+5A>T (n.5271+5A>T)
c.5199+5A>T (n.5199+5A>T)
c.1965+5A>T (n.1965+5A>T)
c.1827+5A>T (n.1827+5A>T)
c.4389+5A>T (n.4389+5A>T)
c.5154+5A>T (n.5154+5A>T)
c.5343+5A>T (n.5343+5A>T)
c.5136+5A>T (n.5136+5A>T)
c.1839+5A>T (n.1839+5A>T)
c.5340+5A>T (n.5340+5A>T)
c.1664+5A>T
c.1851+5A>T (n.1851+5A>T)
c.*5060+5A>T (n.*5060+5A>T)
c.207+5A>T (n.207+5A>T)
c.750+5A>T (n.750+5A>T)
c.-98-6857A>T (n.-98-6857A>T)
n.5413+5A>T
n.5454+5A>T
 ClinVar dbSNP
17g.43057047T>CCA913187798BRCA1c.5274+5A>G (n.5274+5A>G)
c.5277+5A>G (n.5277+5A>G)
c.5151+5A>G (n.5151+5A>G)
c.5271+5A>G (n.5271+5A>G)
c.5199+5A>G (n.5199+5A>G)
c.1965+5A>G (n.1965+5A>G)
c.1827+5A>G (n.1827+5A>G)
c.4389+5A>G (n.4389+5A>G)
c.5154+5A>G (n.5154+5A>G)
c.5343+5A>G (n.5343+5A>G)
c.5136+5A>G (n.5136+5A>G)
c.1839+5A>G (n.1839+5A>G)
c.5340+5A>G (n.5340+5A>G)
c.1664+5A>G
c.1851+5A>G (n.1851+5A>G)
c.*5060+5A>G (n.*5060+5A>G)
c.207+5A>G (n.207+5A>G)
c.750+5A>G (n.750+5A>G)
c.-98-6857A>G (n.-98-6857A>G)
n.5413+5A>G
n.5454+5A>G
 ClinVar dbSNP gnomAD v4
17g.43057047T>GCA916081125BRCA1c.5274+5A>C (n.5274+5A>C)
c.5277+5A>C (n.5277+5A>C)
c.5151+5A>C (n.5151+5A>C)
c.5271+5A>C (n.5271+5A>C)
c.5199+5A>C (n.5199+5A>C)
c.1965+5A>C (n.1965+5A>C)
c.1827+5A>C (n.1827+5A>C)
c.4389+5A>C (n.4389+5A>C)
c.5154+5A>C (n.5154+5A>C)
c.5343+5A>C (n.5343+5A>C)
c.5136+5A>C (n.5136+5A>C)
c.1839+5A>C (n.1839+5A>C)
c.5340+5A>C (n.5340+5A>C)
c.1664+5A>C
c.1851+5A>C (n.1851+5A>C)
c.*5060+5A>C (n.*5060+5A>C)
c.207+5A>C (n.207+5A>C)
c.750+5A>C (n.750+5A>C)
c.-98-6857A>C (n.-98-6857A>C)
n.5413+5A>C
n.5454+5A>C
 ClinVar dbSNP
17g.43057047T=CA2260766350BRCA1c.5274+5A= (n.5274+5A=)
c.5277+5A= (n.5277+5A=)
c.5151+5A= (n.5151+5A=)
c.5271+5A= (n.5271+5A=)
c.5199+5A= (n.5199+5A=)
c.1965+5A= (n.1965+5A=)
c.1827+5A= (n.1827+5A=)
c.4389+5A= (n.4389+5A=)
c.5154+5A= (n.5154+5A=)
c.5343+5A= (n.5343+5A=)
c.5136+5A= (n.5136+5A=)
c.1839+5A= (n.1839+5A=)
c.5340+5A= (n.5340+5A=)
c.1664+5A=
c.1851+5A= (n.1851+5A=)
c.*5060+5A= (n.*5060+5A=)
c.207+5A= (n.207+5A=)
c.750+5A= (n.750+5A=)
c.-98-6857A= (n.-98-6857A=)
n.5413+5A=
n.5454+5A=
17g.43057048T>ACA003425BRCA1c.5274+4A>T (n.5274+4A>T)
c.5277+4A>T (n.5277+4A>T)
c.5151+4A>T (n.5151+4A>T)
c.5271+4A>T (n.5271+4A>T)
c.5199+4A>T (n.5199+4A>T)
c.1965+4A>T (n.1965+4A>T)
c.1827+4A>T (n.1827+4A>T)
c.4389+4A>T (n.4389+4A>T)
c.5154+4A>T (n.5154+4A>T)
c.5343+4A>T (n.5343+4A>T)
c.5136+4A>T (n.5136+4A>T)
c.1839+4A>T (n.1839+4A>T)
c.5340+4A>T (n.5340+4A>T)
c.1664+4A>T
c.1851+4A>T (n.1851+4A>T)
c.*5060+4A>T (n.*5060+4A>T)
c.207+4A>T (n.207+4A>T)
c.750+4A>T (n.750+4A>T)
c.-98-6858A>T (n.-98-6858A>T)
n.5413+4A>T
n.5454+4A>T
 ClinVar dbSNP
17g.43057048T>CCA10586113BRCA1c.5274+4A>G (n.5274+4A>G)
c.5277+4A>G (n.5277+4A>G)
c.5151+4A>G (n.5151+4A>G)
c.5271+4A>G (n.5271+4A>G)
c.5199+4A>G (n.5199+4A>G)
c.1965+4A>G (n.1965+4A>G)
c.1827+4A>G (n.1827+4A>G)
c.4389+4A>G (n.4389+4A>G)
c.5154+4A>G (n.5154+4A>G)
c.5343+4A>G (n.5343+4A>G)
c.5136+4A>G (n.5136+4A>G)
c.1839+4A>G (n.1839+4A>G)
c.5340+4A>G (n.5340+4A>G)
c.1664+4A>G
c.1851+4A>G (n.1851+4A>G)
c.*5060+4A>G (n.*5060+4A>G)
c.207+4A>G (n.207+4A>G)
c.750+4A>G (n.750+4A>G)
c.-98-6858A>G (n.-98-6858A>G)
n.5413+4A>G
n.5454+4A>G
 ClinVar dbSNP
17g.43057048T>GCA916081126BRCA1c.5274+4A>C (n.5274+4A>C)
c.5277+4A>C (n.5277+4A>C)
c.5151+4A>C (n.5151+4A>C)
c.5271+4A>C (n.5271+4A>C)
c.5199+4A>C (n.5199+4A>C)
c.1965+4A>C (n.1965+4A>C)
c.1827+4A>C (n.1827+4A>C)
c.4389+4A>C (n.4389+4A>C)
c.5154+4A>C (n.5154+4A>C)
c.5343+4A>C (n.5343+4A>C)
c.5136+4A>C (n.5136+4A>C)
c.1839+4A>C (n.1839+4A>C)
c.5340+4A>C (n.5340+4A>C)
c.1664+4A>C
c.1851+4A>C (n.1851+4A>C)
c.*5060+4A>C (n.*5060+4A>C)
c.207+4A>C (n.207+4A>C)
c.750+4A>C (n.750+4A>C)
c.-98-6858A>C (n.-98-6858A>C)
n.5413+4A>C
n.5454+4A>C
 ClinVar dbSNP
17g.43057048T=CA2260766351BRCA1c.5274+4A= (n.5274+4A=)
c.5277+4A= (n.5277+4A=)
c.5151+4A= (n.5151+4A=)
c.5271+4A= (n.5271+4A=)
c.5199+4A= (n.5199+4A=)
c.1965+4A= (n.1965+4A=)
c.1827+4A= (n.1827+4A=)
c.4389+4A= (n.4389+4A=)
c.5154+4A= (n.5154+4A=)
c.5343+4A= (n.5343+4A=)
c.5136+4A= (n.5136+4A=)
c.1839+4A= (n.1839+4A=)
c.5340+4A= (n.5340+4A=)
c.1664+4A=
c.1851+4A= (n.1851+4A=)
c.*5060+4A= (n.*5060+4A=)
c.207+4A= (n.207+4A=)
c.750+4A= (n.750+4A=)
c.-98-6858A= (n.-98-6858A=)
n.5413+4A=
n.5454+4A=
17g.43057049T>ACA916081127BRCA1c.5274+3A>T (n.5274+3A>T)
c.5277+3A>T (n.5277+3A>T)
c.5151+3A>T (n.5151+3A>T)
c.5271+3A>T (n.5271+3A>T)
c.5199+3A>T (n.5199+3A>T)
c.1965+3A>T (n.1965+3A>T)
c.1827+3A>T (n.1827+3A>T)
c.4389+3A>T (n.4389+3A>T)
c.5154+3A>T (n.5154+3A>T)
c.5343+3A>T (n.5343+3A>T)
c.5136+3A>T (n.5136+3A>T)
c.1839+3A>T (n.1839+3A>T)
c.5340+3A>T (n.5340+3A>T)
c.1664+3A>T
c.1851+3A>T (n.1851+3A>T)
c.*5060+3A>T (n.*5060+3A>T)
c.207+3A>T (n.207+3A>T)
c.750+3A>T (n.750+3A>T)
c.-98-6859A>T (n.-98-6859A>T)
n.5413+3A>T
n.5454+3A>T
 ClinVar dbSNP
17g.43057049T>CCA913187799BRCA1c.5274+3A>G (n.5274+3A>G)
c.5277+3A>G (n.5277+3A>G)
c.5151+3A>G (n.5151+3A>G)
c.5271+3A>G (n.5271+3A>G)
c.5199+3A>G (n.5199+3A>G)
c.1965+3A>G (n.1965+3A>G)
c.1827+3A>G (n.1827+3A>G)
c.4389+3A>G (n.4389+3A>G)
c.5154+3A>G (n.5154+3A>G)
c.5343+3A>G (n.5343+3A>G)
c.5136+3A>G (n.5136+3A>G)
c.1839+3A>G (n.1839+3A>G)
c.5340+3A>G (n.5340+3A>G)
c.1664+3A>G
c.1851+3A>G (n.1851+3A>G)
c.*5060+3A>G (n.*5060+3A>G)
c.207+3A>G (n.207+3A>G)
c.750+3A>G (n.750+3A>G)
c.-98-6859A>G (n.-98-6859A>G)
n.5413+3A>G
n.5454+3A>G
 ClinVar dbSNP gnomAD v4
17g.43057049T>GCA003422BRCA1c.5274+3A>C (n.5274+3A>C)
c.5277+3A>C (n.5277+3A>C)
c.5151+3A>C (n.5151+3A>C)
c.5271+3A>C (n.5271+3A>C)
c.5199+3A>C (n.5199+3A>C)
c.1965+3A>C (n.1965+3A>C)
c.1827+3A>C (n.1827+3A>C)
c.4389+3A>C (n.4389+3A>C)
c.5154+3A>C (n.5154+3A>C)
c.5343+3A>C (n.5343+3A>C)
c.5136+3A>C (n.5136+3A>C)
c.1839+3A>C (n.1839+3A>C)
c.5340+3A>C (n.5340+3A>C)
c.1664+3A>C
c.1851+3A>C (n.1851+3A>C)
c.*5060+3A>C (n.*5060+3A>C)
c.207+3A>C (n.207+3A>C)
c.750+3A>C (n.750+3A>C)
c.-98-6859A>C (n.-98-6859A>C)
n.5413+3A>C
n.5454+3A>C
 ClinVar dbSNP
17g.43057049T=CA2260766352BRCA1c.5274+3A= (n.5274+3A=)
c.5277+3A= (n.5277+3A=)
c.5151+3A= (n.5151+3A=)
c.5271+3A= (n.5271+3A=)
c.5199+3A= (n.5199+3A=)
c.1965+3A= (n.1965+3A=)
c.1827+3A= (n.1827+3A=)
c.4389+3A= (n.4389+3A=)
c.5154+3A= (n.5154+3A=)
c.5343+3A= (n.5343+3A=)
c.5136+3A= (n.5136+3A=)
c.1839+3A= (n.1839+3A=)
c.5340+3A= (n.5340+3A=)
c.1664+3A=
c.1851+3A= (n.1851+3A=)
c.*5060+3A= (n.*5060+3A=)
c.207+3A= (n.207+3A=)
c.750+3A= (n.750+3A=)
c.-98-6859A= (n.-98-6859A=)
n.5413+3A=
n.5454+3A=
17g.43057049_43057254delCA2499224363BRCA1c.5191-119_5274+3del
c.5194-119_5277+3del
c.5068-119_5151+3del
c.5188-119_5271+3del
c.5116-119_5199+3del
c.1882-119_1965+3del
c.1744-119_1827+3del
c.4306-119_4389+3del
c.5071-119_5154+3del
c.5260-119_5343+3del
c.5053-119_5136+3del
c.1756-119_1839+3del
c.5257-119_5340+3del
c.1581-119_1664+3del
c.1768-119_1851+3del
c.*4977-119_*5060+3del
c.124-119_207+3del
c.667-119_750+3del
c.-98-7064_-98-6859del (n.-98-7064_-98-6859del)
n.5330-119_5413+3del
n.5371-119_5454+3del
 ClinVar dbSNP
17g.43057049_43057971delCA2499224364BRCA1c.5191-836_5274+3del
c.5194-836_5277+3del
c.5068-836_5151+3del
c.5188-836_5271+3del
c.5116-836_5199+3del
c.1882-836_1965+3del
c.1744-836_1827+3del
c.4306-836_4389+3del
c.5071-836_5154+3del
c.5260-836_5343+3del
c.5053-836_5136+3del
c.1756-836_1839+3del
c.5257-836_5340+3del
c.1581-836_1664+3del
c.1768-836_1851+3del
c.*4977-836_*5060+3del
c.124-836_207+3del
c.667-836_750+3del
c.-98-7781_-98-6859del (n.-98-7781_-98-6859del)
n.5330-836_5413+3del
n.5371-836_5454+3del
 ClinVar dbSNP
17g.43057049_43057050insTTTCCA2260766355BRCA1c.5274+2_5274+3insGAAA (n.5274+2_5274+3insGAAA)
c.5277+2_5277+3insGAAA (n.5277+2_5277+3insGAAA)
c.5151+2_5151+3insGAAA (n.5151+2_5151+3insGAAA)
c.5271+2_5271+3insGAAA (n.5271+2_5271+3insGAAA)
c.5199+2_5199+3insGAAA (n.5199+2_5199+3insGAAA)
c.1965+2_1965+3insGAAA (n.1965+2_1965+3insGAAA)
c.1827+2_1827+3insGAAA (n.1827+2_1827+3insGAAA)
c.4389+2_4389+3insGAAA (n.4389+2_4389+3insGAAA)
c.5154+2_5154+3insGAAA (n.5154+2_5154+3insGAAA)
c.5343+2_5343+3insGAAA (n.5343+2_5343+3insGAAA)
c.5136+2_5136+3insGAAA (n.5136+2_5136+3insGAAA)
c.1839+2_1839+3insGAAA (n.1839+2_1839+3insGAAA)
c.5340+2_5340+3insGAAA (n.5340+2_5340+3insGAAA)
c.1664+2_1664+3insGAAA
c.1851+2_1851+3insGAAA (n.1851+2_1851+3insGAAA)
c.*5060+2_*5060+3insGAAA (n.*5060+2_*5060+3insGAAA)
c.207+2_207+3insGAAA (n.207+2_207+3insGAAA)
c.750+2_750+3insGAAA (n.750+2_750+3insGAAA)
c.-98-6860_-98-6859insGAAA (n.-98-6860_-98-6859insGAAA)
n.5413+2_5413+3insGAAA
n.5454+2_5454+3insGAAA
 dbSNP
17g.43057050A=CA2260766353BRCA1c.5274+2T= (n.5274+2T=)
c.5277+2T= (n.5277+2T=)
c.5151+2T= (n.5151+2T=)
c.5271+2T= (n.5271+2T=)
c.5199+2T= (n.5199+2T=)
c.1965+2T= (n.1965+2T=)
c.1827+2T= (n.1827+2T=)
c.4389+2T= (n.4389+2T=)
c.5154+2T= (n.5154+2T=)
c.5343+2T= (n.5343+2T=)
c.5136+2T= (n.5136+2T=)
c.1839+2T= (n.1839+2T=)
c.5340+2T= (n.5340+2T=)
c.1664+2T=
c.1851+2T= (n.1851+2T=)
c.*5060+2T= (n.*5060+2T=)
c.207+2T= (n.207+2T=)
c.750+2T= (n.750+2T=)
c.-98-6860T= (n.-98-6860T=)
n.5413+2T=
n.5454+2T=
17g.43057050A>CCA10590994BRCA1c.5274+2T>G (n.5274+2T>G)
c.5277+2T>G (n.5277+2T>G)
c.5151+2T>G (n.5151+2T>G)
c.5271+2T>G (n.5271+2T>G)
c.5199+2T>G (n.5199+2T>G)
c.1965+2T>G (n.1965+2T>G)
c.1827+2T>G (n.1827+2T>G)
c.4389+2T>G (n.4389+2T>G)
c.5154+2T>G (n.5154+2T>G)
c.5343+2T>G (n.5343+2T>G)
c.5136+2T>G (n.5136+2T>G)
c.1839+2T>G (n.1839+2T>G)
c.5340+2T>G (n.5340+2T>G)
c.1664+2T>G
c.1851+2T>G (n.1851+2T>G)
c.*5060+2T>G (n.*5060+2T>G)
c.207+2T>G (n.207+2T>G)
c.750+2T>G (n.750+2T>G)
c.-98-6860T>G (n.-98-6860T>G)
n.5413+2T>G
n.5454+2T>G
 ClinVar dbSNP
17g.43057050A>GCA10590995BRCA1c.5274+2T>C (n.5274+2T>C)
c.5277+2T>C (n.5277+2T>C)
c.5151+2T>C (n.5151+2T>C)
c.5271+2T>C (n.5271+2T>C)
c.5199+2T>C (n.5199+2T>C)
c.1965+2T>C (n.1965+2T>C)
c.1827+2T>C (n.1827+2T>C)
c.4389+2T>C (n.4389+2T>C)
c.5154+2T>C (n.5154+2T>C)
c.5343+2T>C (n.5343+2T>C)
c.5136+2T>C (n.5136+2T>C)
c.1839+2T>C (n.1839+2T>C)
c.5340+2T>C (n.5340+2T>C)
c.1664+2T>C
c.1851+2T>C (n.1851+2T>C)
c.*5060+2T>C (n.*5060+2T>C)
c.207+2T>C (n.207+2T>C)
c.750+2T>C (n.750+2T>C)
c.-98-6860T>C (n.-98-6860T>C)
n.5413+2T>C
n.5454+2T>C
 ClinVar dbSNP
17g.43057050A>TCA10590996BRCA1c.5274+2T>A (n.5274+2T>A)
c.5277+2T>A (n.5277+2T>A)
c.5151+2T>A (n.5151+2T>A)
c.5271+2T>A (n.5271+2T>A)
c.5199+2T>A (n.5199+2T>A)
c.1965+2T>A (n.1965+2T>A)
c.1827+2T>A (n.1827+2T>A)
c.4389+2T>A (n.4389+2T>A)
c.5154+2T>A (n.5154+2T>A)
c.5343+2T>A (n.5343+2T>A)
c.5136+2T>A (n.5136+2T>A)
c.1839+2T>A (n.1839+2T>A)
c.5340+2T>A (n.5340+2T>A)
c.1664+2T>A
c.1851+2T>A (n.1851+2T>A)
c.*5060+2T>A (n.*5060+2T>A)
c.207+2T>A (n.207+2T>A)
c.750+2T>A (n.750+2T>A)
c.-98-6860T>A (n.-98-6860T>A)
n.5413+2T>A
n.5454+2T>A
 ClinVar dbSNP
17g.43057050_43057051delinsACCA2260766354BRCA1c.5274+1_5274+2delinsGT (n.5274+1_5274+2delinsGT)
c.5277+1_5277+2delinsGT (n.5277+1_5277+2delinsGT)
c.5151+1_5151+2delinsGT (n.5151+1_5151+2delinsGT)
c.5271+1_5271+2delinsGT (n.5271+1_5271+2delinsGT)
c.5199+1_5199+2delinsGT (n.5199+1_5199+2delinsGT)
c.1965+1_1965+2delinsGT (n.1965+1_1965+2delinsGT)
c.1827+1_1827+2delinsGT (n.1827+1_1827+2delinsGT)
c.4389+1_4389+2delinsGT (n.4389+1_4389+2delinsGT)
c.5154+1_5154+2delinsGT (n.5154+1_5154+2delinsGT)
c.5343+1_5343+2delinsGT (n.5343+1_5343+2delinsGT)
c.5136+1_5136+2delinsGT (n.5136+1_5136+2delinsGT)
c.1839+1_1839+2delinsGT (n.1839+1_1839+2delinsGT)
c.5340+1_5340+2delinsGT (n.5340+1_5340+2delinsGT)
c.1664+1_1664+2delinsGT
c.1851+1_1851+2delinsGT (n.1851+1_1851+2delinsGT)
c.*5060+1_*5060+2delinsGT (n.*5060+1_*5060+2delinsGT)
c.207+1_207+2delinsGT (n.207+1_207+2delinsGT)
c.750+1_750+2delinsGT (n.750+1_750+2delinsGT)
c.-98-6861_-98-6860delinsGT (n.-98-6861_-98-6860delinsGT)
n.5413+1_5413+2delinsGT
n.5454+1_5454+2delinsGT
17g.43057050_43057136delCA2499224366BRCA1c.5191-1_5274+2del
c.5194-1_5277+2del
c.5068-1_5151+2del
c.5188-1_5271+2del
c.5116-1_5199+2del
c.1882-1_1965+2del
c.1744-1_1827+2del
c.4306-1_4389+2del
c.5071-1_5154+2del
c.5260-1_5343+2del
c.5053-1_5136+2del
c.1756-1_1839+2del
c.5257-1_5340+2del
c.1581-1_1664+2del
c.1768-1_1851+2del
c.*4977-1_*5060+2del
c.124-1_207+2del
c.667-1_750+2del
c.-98-6946_-98-6860del (n.-98-6946_-98-6860del)
n.5330-1_5413+2del
n.5371-1_5454+2del
 ClinVar dbSNP
17g.43057051_43057178delCA2499224365BRCA1c.5191-42_5274+2del
c.5194-42_5277+2del
c.5068-42_5151+2del
c.5188-42_5271+2del
c.5116-42_5199+2del
c.1882-42_1965+2del
c.1744-42_1827+2del
c.4306-42_4389+2del
c.5071-42_5154+2del
c.5260-42_5343+2del
c.5053-42_5136+2del
c.1756-42_1839+2del
c.5257-42_5340+2del
c.1581-42_1664+2del
c.1768-42_1851+2del
c.*4977-42_*5060+2del
c.124-42_207+2del
c.667-42_750+2del
c.-98-6987_-98-6860del (n.-98-6987_-98-6860del)
n.5330-42_5413+2del
n.5371-42_5454+2del
 ClinVar dbSNP
17g.43057051C>ACA10590997BRCA1c.5274+1G>T (n.5274+1G>T)
c.5277+1G>T (n.5277+1G>T)
c.5151+1G>T (n.5151+1G>T)
c.5271+1G>T (n.5271+1G>T)
c.5199+1G>T (n.5199+1G>T)
c.1965+1G>T (n.1965+1G>T)
c.1827+1G>T (n.1827+1G>T)
c.4389+1G>T (n.4389+1G>T)
c.5154+1G>T (n.5154+1G>T)
c.5343+1G>T (n.5343+1G>T)
c.5136+1G>T (n.5136+1G>T)
c.1839+1G>T (n.1839+1G>T)
c.5340+1G>T (n.5340+1G>T)
c.1664+1G>T
c.1851+1G>T (n.1851+1G>T)
c.*5060+1G>T (n.*5060+1G>T)
c.207+1G>T (n.207+1G>T)
c.750+1G>T (n.750+1G>T)
c.-98-6861G>T (n.-98-6861G>T)
n.5413+1G>T
n.5454+1G>T
 ClinVar dbSNP
17g.43057051C=CA2260766356BRCA1c.5274+1G= (n.5274+1G=)
c.5277+1G= (n.5277+1G=)
c.5151+1G= (n.5151+1G=)
c.5271+1G= (n.5271+1G=)
c.5199+1G= (n.5199+1G=)
c.1965+1G= (n.1965+1G=)
c.1827+1G= (n.1827+1G=)
c.4389+1G= (n.4389+1G=)
c.5154+1G= (n.5154+1G=)
c.5343+1G= (n.5343+1G=)
c.5136+1G= (n.5136+1G=)
c.1839+1G= (n.1839+1G=)
c.5340+1G= (n.5340+1G=)
c.1664+1G=
c.1851+1G= (n.1851+1G=)
c.*5060+1G= (n.*5060+1G=)
c.207+1G= (n.207+1G=)
c.750+1G= (n.750+1G=)
c.-98-6861G= (n.-98-6861G=)
n.5413+1G=
n.5454+1G=
17g.43057051C>GCA003420BRCA1c.5274+1G>C (n.5274+1G>C)
c.5277+1G>C (n.5277+1G>C)
c.5151+1G>C (n.5151+1G>C)
c.5271+1G>C (n.5271+1G>C)
c.5199+1G>C (n.5199+1G>C)
c.1965+1G>C (n.1965+1G>C)
c.1827+1G>C (n.1827+1G>C)
c.4389+1G>C (n.4389+1G>C)
c.5154+1G>C (n.5154+1G>C)
c.5343+1G>C (n.5343+1G>C)
c.5136+1G>C (n.5136+1G>C)
c.1839+1G>C (n.1839+1G>C)
c.5340+1G>C (n.5340+1G>C)
c.1664+1G>C
c.1851+1G>C (n.1851+1G>C)
c.*5060+1G>C (n.*5060+1G>C)
c.207+1G>C (n.207+1G>C)
c.750+1G>C (n.750+1G>C)
c.-98-6861G>C (n.-98-6861G>C)
n.5413+1G>C
n.5454+1G>C
 ClinVar dbSNP
17g.43057051C>TCA003419BRCA1c.5274+1G>A (n.5274+1G>A)
c.5277+1G>A (n.5277+1G>A)
c.5151+1G>A (n.5151+1G>A)
c.5271+1G>A (n.5271+1G>A)
c.5199+1G>A (n.5199+1G>A)
c.1965+1G>A (n.1965+1G>A)
c.1827+1G>A (n.1827+1G>A)
c.4389+1G>A (n.4389+1G>A)
c.5154+1G>A (n.5154+1G>A)
c.5343+1G>A (n.5343+1G>A)
c.5136+1G>A (n.5136+1G>A)
c.1839+1G>A (n.1839+1G>A)
c.5340+1G>A (n.5340+1G>A)
c.1664+1G>A
c.1851+1G>A (n.1851+1G>A)
c.*5060+1G>A (n.*5060+1G>A)
c.207+1G>A (n.207+1G>A)
c.750+1G>A (n.750+1G>A)
c.-98-6861G>A (n.-98-6861G>A)
n.5413+1G>A
n.5454+1G>A
 ClinVar dbSNP gnomAD v4 COSMIC
17g.43057052delCA003418BRCA1c.5274+1del
c.5277+1del
c.5151+1del
c.5271+1del
c.5199+1del
c.1965+1del
c.1827+1del
c.4389+1del
c.5154+1del
c.5343+1del
c.5136+1del
c.1839+1del
c.5340+1del
c.1664+1del
c.1851+1del
c.*5060+1del
c.207+1del
c.750+1del
c.-98-6861del (n.-98-6861del)
n.5413+1del
n.5454+1del
 ClinVar dbSNP
17g.43057051_43057058delinsCCTTTCTGCA2260766357BRCA1c.5268_5274+1delinsCAGAAAGG
c.5271_5277+1delinsCAGAAAGG
c.5145_5151+1delinsCAGAAAGG
c.5265_5271+1delinsCAGAAAGG
c.5193_5199+1delinsCAGAAAGG
c.1959_1965+1delinsCAGAAAGG
c.1821_1827+1delinsCAGAAAGG
c.4383_4389+1delinsCAGAAAGG
c.5148_5154+1delinsCAGAAAGG
c.5337_5343+1delinsCAGAAAGG
c.5130_5136+1delinsCAGAAAGG
c.1833_1839+1delinsCAGAAAGG
c.5334_5340+1delinsCAGAAAGG
c.1658_1664+1delinsCAGAAAGG
c.1845_1851+1delinsCAGAAAGG
c.*5054_*5060+1delinsCAGAAAGG
c.201_207+1delinsCAGAAAGG
c.744_750+1delinsCAGAAAGG
c.-98-6868_-98-6861delinsCAGAAAGG (n.-98-6868_-98-6861delinsCAGAAAGG)
n.5407_5413+1delinsCAGAAAGG
n.5448_5454+1delinsCAGAAAGG
17g.43057052_43063333delCA913189458BRCA1c.5190+1_5274+1del
c.5193+1_5277+1del
c.5067+1_5151+1del
c.5187+1_5271+1del
c.5115+1_5199+1del
c.1881+1_1965+1del
c.1743+1_1827+1del
c.4305+1_4389+1del
c.5070+1_5154+1del
c.5259+1_5343+1del
c.5052+1_5136+1del
c.1755+1_1839+1del
c.5256+1_5340+1del
c.1580+1_1664+1del
c.1767+1_1851+1del
c.*4976+1_*5060+1del
c.123+1_207+1del
c.666+1_750+1del
c.-98-13142_-98-6861del (n.-98-13142_-98-6861del)
n.5329+1_5413+1del
n.5370+1_5454+1del
17g.43057054_43063375delCA658655493BRCA1c.5151_5274+1del
c.5154_5277+1del
c.5028_5151+1del
c.5148_5271+1del
c.5076_5199+1del
c.1842_1965+1del
c.1704_1827+1del
c.4266_4389+1del
c.5031_5154+1del
c.5220_5343+1del
c.5013_5136+1del
c.1716_1839+1del
c.5217_5340+1del
c.1541_1664+1del
c.1728_1851+1del
c.*4937_*5060+1del
c.84_207+1del
c.627_750+1del
c.-98-13182_-98-6861del (n.-98-13182_-98-6861del)
n.5290_5413+1del
n.5331_5454+1del
17g.43057052C>ACA10580489BRCA1c.5274G>T (p.Lys1758Asn)
c.5277G>T (p.Lys1759Asn)
c.5151G>T (p.Lys1717Asn)
c.5271G>T (p.Lys1757Asn)
c.5199G>T (p.Lys1733Asn)
c.1965G>T (p.Lys655Asn)
c.1827G>T (p.Lys609Asn)
c.4389G>T (p.Lys1463Asn)
c.5154G>T (p.Lys1718Asn)
c.5343G>T (p.Lys1781Asn)
c.5136G>T (p.Lys1712Asn)
c.1839G>T (p.Lys613Asn)
c.5340G>T (p.Lys1780Asn)
c.1664G>T
c.1851G>T (p.Lys617Asn)
c.*5060G>T (n.*5060G>T)
c.207G>T (p.Lys69Asn)
c.750G>T (p.Lys250Asn)
c.-98-6862G>T (n.-98-6862G>T)
n.5413G>T
n.5454G>T
 ClinVar dbSNP gnomAD v4
17g.43057052C=CA2260766360BRCA1c.5274G= (p.Lys1758=)
c.5277G= (p.Lys1759=)
c.5151G= (p.Lys1717=)
c.5271G= (p.Lys1757=)
c.5199G= (p.Lys1733=)
c.1965G= (p.Lys655=)
c.1827G= (p.Lys609=)
c.4389G= (p.Lys1463=)
c.5154G= (p.Lys1718=)
c.5343G= (p.Lys1781=)
c.5136G= (p.Lys1712=)
c.1839G= (p.Lys613=)
c.5340G= (p.Lys1780=)
c.1664G=
c.1851G= (p.Lys617=)
c.*5060G= (n.*5060G=)
c.207G= (p.Lys69=)
c.750G= (p.Lys250=)
c.-98-6862G= (n.-98-6862G=)
n.5413G=
n.5454G=
17g.43057052C>GCA10590998BRCA1c.5274G>C (p.Lys1758Asn)
c.5277G>C (p.Lys1759Asn)
c.5151G>C (p.Lys1717Asn)
c.5271G>C (p.Lys1757Asn)
c.5199G>C (p.Lys1733Asn)
c.1965G>C (p.Lys655Asn)
c.1827G>C (p.Lys609Asn)
c.4389G>C (p.Lys1463Asn)
c.5154G>C (p.Lys1718Asn)
c.5343G>C (p.Lys1781Asn)
c.5136G>C (p.Lys1712Asn)
c.1839G>C (p.Lys613Asn)
c.5340G>C (p.Lys1780Asn)
c.1664G>C
c.1851G>C (p.Lys617Asn)
c.*5060G>C (n.*5060G>C)
c.207G>C (p.Lys69Asn)
c.750G>C (p.Lys250Asn)
c.-98-6862G>C (n.-98-6862G>C)
n.5413G>C
n.5454G>C
 ClinVar dbSNP
17g.43057052C>TCA003430BRCA1c.5274G>A (p.Lys1758=)
c.5277G>A (p.Lys1759=)
c.5151G>A (p.Lys1717=)
c.5271G>A (p.Lys1757=)
c.5199G>A (p.Lys1733=)
c.1965G>A (p.Lys655=)
c.1827G>A (p.Lys609=)
c.4389G>A (p.Lys1463=)
c.5154G>A (p.Lys1718=)
c.5343G>A (p.Lys1781=)
c.5136G>A (p.Lys1712=)
c.1839G>A (p.Lys613=)
c.5340G>A (p.Lys1780=)
c.1664G>A
c.1851G>A (p.Lys617=)
c.*5060G>A (n.*5060G>A)
c.207G>A (p.Lys69=)
c.750G>A (p.Lys250=)
c.-98-6862G>A (n.-98-6862G>A)
n.5413G>A
n.5454G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.43057052_43057053delinsCTCA2260766358BRCA1c.5273_5274delinsAG (p.Lys1758=)
c.5276_5277delinsAG (p.Lys1759=)
c.5150_5151delinsAG (p.Lys1717=)
c.5270_5271delinsAG (p.Lys1757=)
c.5198_5199delinsAG (p.Lys1733=)
c.1964_1965delinsAG (p.Lys655=)
c.1826_1827delinsAG (p.Lys609=)
c.4388_4389delinsAG (p.Lys1463=)
c.5153_5154delinsAG (p.Lys1718=)
c.5342_5343delinsAG (p.Lys1781=)
c.5135_5136delinsAG (p.Lys1712=)
c.1838_1839delinsAG (p.Lys613=)
c.5339_5340delinsAG (p.Lys1780=)
c.1663_1664delinsAG
c.1850_1851delinsAG (p.Lys617=)
c.*5059_*5060delinsAG (n.*5059_*5060delinsAG)
c.206_207delinsAG (p.Lys69=)
c.749_750delinsAG (p.Lys250=)
c.-98-6863_-98-6862delinsAG (n.-98-6863_-98-6862delinsAG)
n.5412_5413delinsAG
n.5453_5454delinsAG
17g.43057052_43057058delCA913191185BRCA1c.5268_5274del (p.Asp1756GlufsTer6)
c.5271_5277del (p.Asp1757GlufsTer6)
c.5145_5151del (p.Asp1715GlufsTer6)
c.5265_5271del (p.Asp1755GlufsTer6)
c.5193_5199del (p.Asp1731GlufsTer6)
c.1959_1965del (p.Asp653GlufsTer6)
c.1821_1827del (p.Asp607GlufsTer6)
c.4383_4389del (p.Asp1461GlufsTer6)
c.5148_5154del (p.Asp1716GlufsTer6)
c.5337_5343del (p.Asp1779GlufsTer6)
c.5130_5136del (p.Asp1710GlufsTer6)
c.1833_1839del (p.Asp611GlufsTer6)
c.5334_5340del (p.Asp1778GlufsTer6)
c.1658_1664del
c.1845_1851del (p.Asp615GlufsTer6)
c.*5054_*5060del (n.*5054_*5060del)
c.201_207del (p.Asp67GlufsTer6)
c.744_750del (p.Asp248GlufsTer6)
c.-98-6868_-98-6862del (n.-98-6868_-98-6862del)
n.5407_5413del
n.5448_5454del
 ClinVar dbSNP
17g.43057052_43057059delinsCTTTCTGTCA2260766359BRCA1c.5267_5274delinsACAGAAAG (p.Asp1756=)
c.5270_5277delinsACAGAAAG (p.Asp1757=)
c.5144_5151delinsACAGAAAG (p.Asp1715=)
c.5264_5271delinsACAGAAAG (p.Asp1755=)
c.5192_5199delinsACAGAAAG (p.Asp1731=)
c.1958_1965delinsACAGAAAG (p.Asp653=)
c.1820_1827delinsACAGAAAG (p.Asp607=)
c.4382_4389delinsACAGAAAG (p.Asp1461=)
c.5147_5154delinsACAGAAAG (p.Asp1716=)
c.5336_5343delinsACAGAAAG (p.Asp1779=)
c.5129_5136delinsACAGAAAG (p.Asp1710=)
c.1832_1839delinsACAGAAAG (p.Asp611=)
c.5333_5340delinsACAGAAAG (p.Asp1778=)
c.1657_1664delinsACAGAAAG
c.1844_1851delinsACAGAAAG (p.Asp615=)
c.*5053_*5060delinsACAGAAAG (n.*5053_*5060delinsACAGAAAG)
c.200_207delinsACAGAAAG (p.Asp67=)
c.743_750delinsACAGAAAG (p.Asp248=)
c.-98-6869_-98-6862delinsACAGAAAG (n.-98-6869_-98-6862delinsACAGAAAG)
n.5406_5413delinsACAGAAAG
n.5447_5454delinsACAGAAAG
17g.43057054_43057137delCA915940681BRCA1c.5191_5274del
c.5194_5277del
c.5068_5151del
c.5188_5271del
c.5116_5199del
c.1882_1965del
c.1744_1827del
c.4306_4389del
c.5071_5154del
c.5260_5343del
c.5053_5136del
c.1756_1839del
c.5257_5340del
c.1581_1664del
c.1768_1851del
c.*4977_*5060del
c.124_207del
c.667_750del
c.-98-6945_-98-6862del (n.-98-6945_-98-6862del)
n.5330_5413del
n.5371_5454del
17g.43057053T>ACA10590999BRCA1c.5273A>T (p.Lys1758Met)
c.5276A>T (p.Lys1759Met)
c.5150A>T (p.Lys1717Met)
c.5270A>T (p.Lys1757Met)
c.5198A>T (p.Lys1733Met)
c.1964A>T (p.Lys655Met)
c.1826A>T (p.Lys609Met)
c.4388A>T (p.Lys1463Met)
c.5153A>T (p.Lys1718Met)
c.5342A>T (p.Lys1781Met)
c.5135A>T (p.Lys1712Met)
c.1838A>T (p.Lys613Met)
c.5339A>T (p.Lys1780Met)
c.1663A>T
c.1850A>T (p.Lys617Met)
c.*5059A>T (n.*5059A>T)
c.206A>T (p.Lys69Met)
c.749A>T (p.Lys250Met)
c.-98-6863A>T (n.-98-6863A>T)
n.5412A>T
n.5453A>T
 ClinVar dbSNP
17g.43057053T>CCA003417BRCA1c.5273A>G (p.Lys1758Arg)
c.5276A>G (p.Lys1759Arg)
c.5150A>G (p.Lys1717Arg)
c.5270A>G (p.Lys1757Arg)
c.5198A>G (p.Lys1733Arg)
c.1964A>G (p.Lys655Arg)
c.1826A>G (p.Lys609Arg)
c.4388A>G (p.Lys1463Arg)
c.5153A>G (p.Lys1718Arg)
c.5342A>G (p.Lys1781Arg)
c.5135A>G (p.Lys1712Arg)
c.1838A>G (p.Lys613Arg)
c.5339A>G (p.Lys1780Arg)
c.1663A>G
c.1850A>G (p.Lys617Arg)
c.*5059A>G (n.*5059A>G)
c.206A>G (p.Lys69Arg)
c.749A>G (p.Lys250Arg)
c.-98-6863A>G (n.-98-6863A>G)
n.5412A>G
n.5453A>G
 ClinVar dbSNP gnomAD v4
17g.43057053T>GCA10591000BRCA1c.5273A>C (p.Lys1758Thr)
c.5276A>C (p.Lys1759Thr)
c.5150A>C (p.Lys1717Thr)
c.5270A>C (p.Lys1757Thr)
c.5198A>C (p.Lys1733Thr)
c.1964A>C (p.Lys655Thr)
c.1826A>C (p.Lys609Thr)
c.4388A>C (p.Lys1463Thr)
c.5153A>C (p.Lys1718Thr)
c.5342A>C (p.Lys1781Thr)
c.5135A>C (p.Lys1712Thr)
c.1838A>C (p.Lys613Thr)
c.5339A>C (p.Lys1780Thr)
c.1663A>C
c.1850A>C (p.Lys617Thr)
c.*5059A>C (n.*5059A>C)
c.206A>C (p.Lys69Thr)
c.749A>C (p.Lys250Thr)
c.-98-6863A>C (n.-98-6863A>C)
n.5412A>C
n.5453A>C
 ClinVar dbSNP
17g.43057053T=CA2260766361BRCA1c.5273A= (p.Lys1758=)
c.5276A= (p.Lys1759=)
c.5150A= (p.Lys1717=)
c.5270A= (p.Lys1757=)
c.5198A= (p.Lys1733=)
c.1964A= (p.Lys655=)
c.1826A= (p.Lys609=)
c.4388A= (p.Lys1463=)
c.5153A= (p.Lys1718=)
c.5342A= (p.Lys1781=)
c.5135A= (p.Lys1712=)
c.1838A= (p.Lys613=)
c.5339A= (p.Lys1780=)
c.1663A=
c.1850A= (p.Lys617=)
c.*5059A= (n.*5059A=)
c.206A= (p.Lys69=)
c.749A= (p.Lys250=)
c.-98-6863A= (n.-98-6863A=)
n.5412A=
n.5453A=
17g.43057053_43057054delinsCACA003416BRCA1c.5272_5273delinsTG (p.Lys1758Trp)
c.5275_5276delinsTG (p.Lys1759Trp)
c.5149_5150delinsTG (p.Lys1717Trp)
c.5269_5270delinsTG (p.Lys1757Trp)
c.5197_5198delinsTG (p.Lys1733Trp)
c.1963_1964delinsTG (p.Lys655Trp)
c.1825_1826delinsTG (p.Lys609Trp)
c.4387_4388delinsTG (p.Lys1463Trp)
c.5152_5153delinsTG (p.Lys1718Trp)
c.5341_5342delinsTG (p.Lys1781Trp)
c.5134_5135delinsTG (p.Lys1712Trp)
c.1837_1838delinsTG (p.Lys613Trp)
c.5338_5339delinsTG (p.Lys1780Trp)
c.1662_1663delinsTG
c.1849_1850delinsTG (p.Lys617Trp)
c.*5058_*5059delinsTG (n.*5058_*5059delinsTG)
c.205_206delinsTG (p.Lys69Trp)
c.748_749delinsTG (p.Lys250Trp)
c.-98-6864_-98-6863delinsTG (n.-98-6864_-98-6863delinsTG)
n.5411_5412delinsTG
n.5452_5453delinsTG
 ClinVar dbSNP
17g.43057053_43057054delinsTTCA2260766362BRCA1c.5272_5273delinsAA (p.Lys1758=)
c.5275_5276delinsAA (p.Lys1759=)
c.5149_5150delinsAA (p.Lys1717=)
c.5269_5270delinsAA (p.Lys1757=)
c.5197_5198delinsAA (p.Lys1733=)
c.1963_1964delinsAA (p.Lys655=)
c.1825_1826delinsAA (p.Lys609=)
c.4387_4388delinsAA (p.Lys1463=)
c.5152_5153delinsAA (p.Lys1718=)
c.5341_5342delinsAA (p.Lys1781=)
c.5134_5135delinsAA (p.Lys1712=)
c.1837_1838delinsAA (p.Lys613=)
c.5338_5339delinsAA (p.Lys1780=)
c.1662_1663delinsAA
c.1849_1850delinsAA (p.Lys617=)
c.*5058_*5059delinsAA (n.*5058_*5059delinsAA)
c.205_206delinsAA (p.Lys69=)
c.748_749delinsAA (p.Lys250=)
c.-98-6864_-98-6863delinsAA (n.-98-6864_-98-6863delinsAA)
n.5411_5412delinsAA
n.5452_5453delinsAA
17g.43057055delCA003415BRCA1c.5273del (p.Lys1758ArgfsTer6)
c.5276del (p.Lys1759ArgfsTer6)
c.5150del (p.Lys1717ArgfsTer6)
c.5270del (p.Lys1757ArgfsTer6)
c.5198del (p.Lys1733ArgfsTer6)
c.1964del (p.Lys655ArgfsTer6)
c.1826del (p.Lys609ArgfsTer6)
c.4388del (p.Lys1463ArgfsTer6)
c.5153del (p.Lys1718ArgfsTer6)
c.5342del (p.Lys1781ArgfsTer6)
c.5135del (p.Lys1712ArgfsTer6)
c.1838del (p.Lys613ArgfsTer6)
c.5339del (p.Lys1780ArgfsTer6)
c.1663del
c.1850del (p.Lys617ArgfsTer6)
c.*5059del (n.*5059del)
c.206del (p.Lys69ArgfsTer6)
c.749del (p.Lys250ArgfsTer6)
c.-98-6863del (n.-98-6863del)
n.5412del
n.5453del
 ClinVar dbSNP
17g.43057053_43057059delCA003413BRCA1c.5267_5273del (p.Asp1756GlyfsTer6)
c.5270_5276del (p.Asp1757GlyfsTer6)
c.5144_5150del (p.Asp1715GlyfsTer6)
c.5264_5270del (p.Asp1755GlyfsTer6)
c.5192_5198del (p.Asp1731GlyfsTer6)
c.1958_1964del (p.Asp653GlyfsTer6)
c.1820_1826del (p.Asp607GlyfsTer6)
c.4382_4388del (p.Asp1461GlyfsTer6)
c.5147_5153del (p.Asp1716GlyfsTer6)
c.5336_5342del (p.Asp1779GlyfsTer6)
c.5129_5135del (p.Asp1710GlyfsTer6)
c.1832_1838del (p.Asp611GlyfsTer6)
c.5333_5339del (p.Asp1778GlyfsTer6)
c.1657_1663del
c.1844_1850del (p.Asp615GlyfsTer6)
c.*5053_*5059del (n.*5053_*5059del)
c.200_206del (p.Asp67GlyfsTer6)
c.743_749del (p.Asp248GlyfsTer6)
c.-98-6869_-98-6863del (n.-98-6869_-98-6863del)
n.5406_5412del
n.5447_5453del
 ClinVar dbSNP
17g.43057054T>ACA10591001BRCA1c.5272A>T (p.Lys1758Ter)
c.5275A>T (p.Lys1759Ter)
c.5149A>T (p.Lys1717Ter)
c.5269A>T (p.Lys1757Ter)
c.5197A>T (p.Lys1733Ter)
c.1963A>T (p.Lys655Ter)
c.1825A>T (p.Lys609Ter)
c.4387A>T (p.Lys1463Ter)
c.5152A>T (p.Lys1718Ter)
c.5341A>T (p.Lys1781Ter)
c.5134A>T (p.Lys1712Ter)
c.1837A>T (p.Lys613Ter)
c.5338A>T (p.Lys1780Ter)
c.1662A>T
c.1849A>T (p.Lys617Ter)
c.*5058A>T (n.*5058A>T)
c.205A>T (p.Lys69Ter)
c.748A>T (p.Lys250Ter)
c.-98-6864A>T (n.-98-6864A>T)
n.5411A>T
n.5452A>T
 ClinVar dbSNP gnomAD v4
17g.43057054T>CCA10591002BRCA1c.5272A>G (p.Lys1758Glu)
c.5275A>G (p.Lys1759Glu)
c.5149A>G (p.Lys1717Glu)
c.5269A>G (p.Lys1757Glu)
c.5197A>G (p.Lys1733Glu)
c.1963A>G (p.Lys655Glu)
c.1825A>G (p.Lys609Glu)
c.4387A>G (p.Lys1463Glu)
c.5152A>G (p.Lys1718Glu)
c.5341A>G (p.Lys1781Glu)
c.5134A>G (p.Lys1712Glu)
c.1837A>G (p.Lys613Glu)
c.5338A>G (p.Lys1780Glu)
c.1662A>G
c.1849A>G (p.Lys617Glu)
c.*5058A>G (n.*5058A>G)
c.205A>G (p.Lys69Glu)
c.748A>G (p.Lys250Glu)
c.-98-6864A>G (n.-98-6864A>G)
n.5411A>G
n.5452A>G
 ClinVar dbSNP
17g.43057054T>GCA10591003BRCA1c.5272A>C (p.Lys1758Gln)
c.5275A>C (p.Lys1759Gln)
c.5149A>C (p.Lys1717Gln)
c.5269A>C (p.Lys1757Gln)
c.5197A>C (p.Lys1733Gln)
c.1963A>C (p.Lys655Gln)
c.1825A>C (p.Lys609Gln)
c.4387A>C (p.Lys1463Gln)
c.5152A>C (p.Lys1718Gln)
c.5341A>C (p.Lys1781Gln)
c.5134A>C (p.Lys1712Gln)
c.1837A>C (p.Lys613Gln)
c.5338A>C (p.Lys1780Gln)
c.1662A>C
c.1849A>C (p.Lys617Gln)
c.*5058A>C (n.*5058A>C)
c.205A>C (p.Lys69Gln)
c.748A>C (p.Lys250Gln)
c.-98-6864A>C (n.-98-6864A>C)
n.5411A>C
n.5452A>C
 ClinVar dbSNP
17g.43057054T=CA2260766363BRCA1c.5272A= (p.Lys1758=)
c.5275A= (p.Lys1759=)
c.5149A= (p.Lys1717=)
c.5269A= (p.Lys1757=)
c.5197A= (p.Lys1733=)
c.1963A= (p.Lys655=)
c.1825A= (p.Lys609=)
c.4387A= (p.Lys1463=)
c.5152A= (p.Lys1718=)
c.5341A= (p.Lys1781=)
c.5134A= (p.Lys1712=)
c.1837A= (p.Lys613=)
c.5338A= (p.Lys1780=)
c.1662A=
c.1849A= (p.Lys617=)
c.*5058A= (n.*5058A=)
c.205A= (p.Lys69=)
c.748A= (p.Lys250=)
c.-98-6864A= (n.-98-6864A=)
n.5411A=
n.5452A=
17g.43057054_43057061delinsTTCTGTCCCA2260766364BRCA1c.5265_5272delinsGGACAGAA (p.Gln1755=)
c.5268_5275delinsGGACAGAA (p.Gln1756=)
c.5142_5149delinsGGACAGAA (p.Gln1714=)
c.5262_5269delinsGGACAGAA (p.Gln1754=)
c.5190_5197delinsGGACAGAA (p.Gln1730=)
c.1956_1963delinsGGACAGAA (p.Gln652=)
c.1818_1825delinsGGACAGAA (p.Gln606=)
c.4380_4387delinsGGACAGAA (p.Gln1460=)
c.5145_5152delinsGGACAGAA (p.Gln1715=)
c.5334_5341delinsGGACAGAA (p.Gln1778=)
c.5127_5134delinsGGACAGAA (p.Gln1709=)
c.1830_1837delinsGGACAGAA (p.Gln610=)
c.5331_5338delinsGGACAGAA (p.Gln1777=)
c.1655_1662delinsGGACAGAA
c.1842_1849delinsGGACAGAA (p.Gln614=)
c.*5051_*5058delinsGGACAGAA (n.*5051_*5058delinsGGACAGAA)
c.198_205delinsGGACAGAA (p.Gln66=)
c.741_748delinsGGACAGAA (p.Gln247=)
c.-98-6871_-98-6864delinsGGACAGAA (n.-98-6871_-98-6864delinsGGACAGAA)
n.5404_5411delinsGGACAGAA
n.5445_5452delinsGGACAGAA
17g.43057055T>ACA10591004BRCA1c.5271A>T (p.Arg1757Ser)
c.5274A>T (p.Arg1758Ser)
c.5148A>T (p.Arg1716Ser)
c.5268A>T (p.Arg1756Ser)
c.5196A>T (p.Arg1732Ser)
c.1962A>T (p.Arg654Ser)
c.1824A>T (p.Arg608Ser)
c.4386A>T (p.Arg1462Ser)
c.5151A>T (p.Arg1717Ser)
c.5340A>T (p.Arg1780Ser)
c.5133A>T (p.Arg1711Ser)
c.1836A>T (p.Arg612Ser)
c.5337A>T (p.Arg1779Ser)
c.1661A>T
c.1848A>T (p.Arg616Ser)
c.*5057A>T (n.*5057A>T)
c.204A>T (p.Arg68Ser)
c.747A>T (p.Arg249Ser)
c.-98-6865A>T (n.-98-6865A>T)
n.5410A>T
n.5451A>T
 ClinVar dbSNP
17g.43057055T>CCA054291BRCA1c.5271A>G (p.Arg1757=)
c.5274A>G (p.Arg1758=)
c.5148A>G (p.Arg1716=)
c.5268A>G (p.Arg1756=)
c.5196A>G (p.Arg1732=)
c.1962A>G (p.Arg654=)
c.1824A>G (p.Arg608=)
c.4386A>G (p.Arg1462=)
c.5151A>G (p.Arg1717=)
c.5340A>G (p.Arg1780=)
c.5133A>G (p.Arg1711=)
c.1836A>G (p.Arg612=)
c.5337A>G (p.Arg1779=)
c.1661A>G
c.1848A>G (p.Arg616=)
c.*5057A>G (n.*5057A>G)
c.204A>G (p.Arg68=)
c.747A>G (p.Arg249=)
c.-98-6865A>G (n.-98-6865A>G)
n.5410A>G
n.5451A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.43057055T>GCA10591005BRCA1c.5271A>C (p.Arg1757Ser)
c.5274A>C (p.Arg1758Ser)
c.5148A>C (p.Arg1716Ser)
c.5268A>C (p.Arg1756Ser)
c.5196A>C (p.Arg1732Ser)
c.1962A>C (p.Arg654Ser)
c.1824A>C (p.Arg608Ser)
c.4386A>C (p.Arg1462Ser)
c.5151A>C (p.Arg1717Ser)
c.5340A>C (p.Arg1780Ser)
c.5133A>C (p.Arg1711Ser)
c.1836A>C (p.Arg612Ser)
c.5337A>C (p.Arg1779Ser)
c.1661A>C
c.1848A>C (p.Arg616Ser)
c.*5057A>C (n.*5057A>C)
c.204A>C (p.Arg68Ser)
c.747A>C (p.Arg249Ser)
c.-98-6865A>C (n.-98-6865A>C)
n.5410A>C
n.5451A>C
 ClinVar dbSNP
17g.43057055T=CA2260766365BRCA1c.5271A= (p.Arg1757=)
c.5274A= (p.Arg1758=)
c.5148A= (p.Arg1716=)
c.5268A= (p.Arg1756=)
c.5196A= (p.Arg1732=)
c.1962A= (p.Arg654=)
c.1824A= (p.Arg608=)
c.4386A= (p.Arg1462=)
c.5151A= (p.Arg1717=)
c.5340A= (p.Arg1780=)
c.5133A= (p.Arg1711=)
c.1836A= (p.Arg612=)
c.5337A= (p.Arg1779=)
c.1661A=
c.1848A= (p.Arg616=)
c.*5057A= (n.*5057A=)
c.204A= (p.Arg68=)
c.747A= (p.Arg249=)
c.-98-6865A= (n.-98-6865A=)
n.5410A=
n.5451A=
17g.43057055_43057060delinsTCTGTCCA2260766366BRCA1c.5266_5271delinsGACAGA (p.Asp1756=)
c.5269_5274delinsGACAGA (p.Asp1757=)
c.5143_5148delinsGACAGA (p.Asp1715=)
c.5263_5268delinsGACAGA (p.Asp1755=)
c.5191_5196delinsGACAGA (p.Asp1731=)
c.1957_1962delinsGACAGA (p.Asp653=)
c.1819_1824delinsGACAGA (p.Asp607=)
c.4381_4386delinsGACAGA (p.Asp1461=)
c.5146_5151delinsGACAGA (p.Asp1716=)
c.5335_5340delinsGACAGA (p.Asp1779=)
c.5128_5133delinsGACAGA (p.Asp1710=)
c.1831_1836delinsGACAGA (p.Asp611=)
c.5332_5337delinsGACAGA (p.Asp1778=)
c.1656_1661delinsGACAGA
c.1843_1848delinsGACAGA (p.Asp615=)
c.*5052_*5057delinsGACAGA (n.*5052_*5057delinsGACAGA)
c.199_204delinsGACAGA (p.Asp67=)
c.742_747delinsGACAGA (p.Asp248=)
c.-98-6870_-98-6865delinsGACAGA (n.-98-6870_-98-6865delinsGACAGA)
n.5405_5410delinsGACAGA
n.5446_5451delinsGACAGA
17g.43057056_43057062delCA10586601BRCA1c.5265_5271del (p.Asp1756ArgfsTer6)
c.5268_5274del (p.Asp1757ArgfsTer6)
c.5142_5148del (p.Asp1715ArgfsTer6)
c.5262_5268del (p.Asp1755ArgfsTer6)
c.5190_5196del (p.Asp1731ArgfsTer6)
c.1956_1962del (p.Asp653ArgfsTer6)
c.1818_1824del (p.Asp607ArgfsTer6)
c.4380_4386del (p.Asp1461ArgfsTer6)
c.5145_5151del (p.Asp1716ArgfsTer6)
c.5334_5340del (p.Asp1779ArgfsTer6)
c.5127_5133del (p.Asp1710ArgfsTer6)
c.1830_1836del (p.Asp611ArgfsTer6)
c.5331_5337del (p.Asp1778ArgfsTer6)
c.1655_1661del
c.1842_1848del (p.Asp615ArgfsTer6)
c.*5051_*5057del (n.*5051_*5057del)
c.198_204del (p.Asp67ArgfsTer6)
c.741_747del (p.Asp248ArgfsTer6)
c.-98-6871_-98-6865del (n.-98-6871_-98-6865del)
n.5404_5410del
n.5445_5451del
 ClinVar dbSNP
17g.43057056delCA2573153989BRCA1c.5270del (p.Arg1757LysfsTer7)
c.5273del (p.Arg1758LysfsTer7)
c.5147del (p.Arg1716LysfsTer7)
c.5267del (p.Arg1756LysfsTer7)
c.5195del (p.Arg1732LysfsTer7)
c.1961del (p.Arg654LysfsTer7)
c.1823del (p.Arg608LysfsTer7)
c.4385del (p.Arg1462LysfsTer7)
c.5150del (p.Arg1717LysfsTer7)
c.5339del (p.Arg1780LysfsTer7)
c.5132del (p.Arg1711LysfsTer7)
c.1835del (p.Arg612LysfsTer7)
c.5336del (p.Arg1779LysfsTer7)
c.1660del
c.1847del (p.Arg616LysfsTer7)
c.*5056del (n.*5056del)
c.203del (p.Arg68LysfsTer7)
c.746del (p.Arg249LysfsTer7)
c.-98-6866del (n.-98-6866del)
n.5409del
n.5450del
 ClinVar dbSNP
17g.43057056C>ACA10591006BRCA1c.5270G>T (p.Arg1757Ile)
c.5273G>T (p.Arg1758Ile)
c.5147G>T (p.Arg1716Ile)
c.5267G>T (p.Arg1756Ile)
c.5195G>T (p.Arg1732Ile)
c.1961G>T (p.Arg654Ile)
c.1823G>T (p.Arg608Ile)
c.4385G>T (p.Arg1462Ile)
c.5150G>T (p.Arg1717Ile)
c.5339G>T (p.Arg1780Ile)
c.5132G>T (p.Arg1711Ile)
c.1835G>T (p.Arg612Ile)
c.5336G>T (p.Arg1779Ile)
c.1660G>T
c.1847G>T (p.Arg616Ile)
c.*5056G>T (n.*5056G>T)
c.203G>T (p.Arg68Ile)
c.746G>T (p.Arg249Ile)
c.-98-6866G>T (n.-98-6866G>T)
n.5409G>T
n.5450G>T
 ClinVar dbSNP
17g.43057056C=CA2260766367BRCA1c.5270G= (p.Arg1757=)
c.5273G= (p.Arg1758=)
c.5147G= (p.Arg1716=)
c.5267G= (p.Arg1756=)
c.5195G= (p.Arg1732=)
c.1961G= (p.Arg654=)
c.1823G= (p.Arg608=)
c.4385G= (p.Arg1462=)
c.5150G= (p.Arg1717=)
c.5339G= (p.Arg1780=)
c.5132G= (p.Arg1711=)
c.1835G= (p.Arg612=)
c.5336G= (p.Arg1779=)
c.1660G=
c.1847G= (p.Arg616=)
c.*5056G= (n.*5056G=)
c.203G= (p.Arg68=)
c.746G= (p.Arg249=)
c.-98-6866G= (n.-98-6866G=)
n.5409G=
n.5450G=
17g.43057056C>GCA10591007BRCA1c.5270G>C (p.Arg1757Thr)
c.5273G>C (p.Arg1758Thr)
c.5147G>C (p.Arg1716Thr)
c.5267G>C (p.Arg1756Thr)
c.5195G>C (p.Arg1732Thr)
c.1961G>C (p.Arg654Thr)
c.1823G>C (p.Arg608Thr)
c.4385G>C (p.Arg1462Thr)
c.5150G>C (p.Arg1717Thr)
c.5339G>C (p.Arg1780Thr)
c.5132G>C (p.Arg1711Thr)
c.1835G>C (p.Arg612Thr)
c.5336G>C (p.Arg1779Thr)
c.1660G>C
c.1847G>C (p.Arg616Thr)
c.*5056G>C (n.*5056G>C)
c.203G>C (p.Arg68Thr)
c.746G>C (p.Arg249Thr)
c.-98-6866G>C (n.-98-6866G>C)
n.5409G>C
n.5450G>C
 ClinVar dbSNP
17g.43057056C>TCA10591008BRCA1c.5270G>A (p.Arg1757Lys)
c.5273G>A (p.Arg1758Lys)
c.5147G>A (p.Arg1716Lys)
c.5267G>A (p.Arg1756Lys)
c.5195G>A (p.Arg1732Lys)
c.1961G>A (p.Arg654Lys)
c.1823G>A (p.Arg608Lys)
c.4385G>A (p.Arg1462Lys)
c.5150G>A (p.Arg1717Lys)
c.5339G>A (p.Arg1780Lys)
c.5132G>A (p.Arg1711Lys)
c.1835G>A (p.Arg612Lys)
c.5336G>A (p.Arg1779Lys)
c.1660G>A
c.1847G>A (p.Arg616Lys)
c.*5056G>A (n.*5056G>A)
c.203G>A (p.Arg68Lys)
c.746G>A (p.Arg249Lys)
c.-98-6866G>A (n.-98-6866G>A)
n.5409G>A
n.5450G>A
 ClinVar dbSNP
17g.43057059_43057063delCA003412BRCA1c.5266_5270del (p.Asp1756LysfsTer?)
c.5269_5273del (p.Asp1757LysfsTer?)
c.5143_5147del (p.Asp1715LysfsTer?)
c.5263_5267del (p.Asp1755LysfsTer?)
c.5191_5195del (p.Asp1731LysfsTer?)
c.1957_1961del (p.Asp653LysfsTer?)
c.1819_1823del (p.Asp607LysfsTer?)
c.4381_4385del (p.Asp1461LysfsTer?)
c.5146_5150del (p.Asp1716LysfsTer?)
c.5335_5339del (p.Asp1779LysfsTer?)
c.5128_5132del (p.Asp1710LysfsTer?)
c.1831_1835del (p.Asp611LysfsTer?)
c.5332_5336del (p.Asp1778LysfsTer?)
c.1656_1660del
c.1843_1847del (p.Asp615LysfsTer?)
c.*5052_*5056del (n.*5052_*5056del)
c.199_203del (p.Asp67LysfsTer?)
c.742_746del (p.Asp248LysfsTer?)
c.-98-6870_-98-6866del (n.-98-6870_-98-6866del)
n.5405_5409del
n.5446_5450del
 ClinVar dbSNP
17g.43057057T>ACA10591009BRCA1c.5269A>T (p.Arg1757Ter)
c.5272A>T (p.Arg1758Ter)
c.5146A>T (p.Arg1716Ter)
c.5266A>T (p.Arg1756Ter)
c.5194A>T (p.Arg1732Ter)
c.1960A>T (p.Arg654Ter)
c.1822A>T (p.Arg608Ter)
c.4384A>T (p.Arg1462Ter)
c.5149A>T (p.Arg1717Ter)
c.5338A>T (p.Arg1780Ter)
c.5131A>T (p.Arg1711Ter)
c.1834A>T (p.Arg612Ter)
c.5335A>T (p.Arg1779Ter)
c.1659A>T
c.1846A>T (p.Arg616Ter)
c.*5055A>T (n.*5055A>T)
c.202A>T (p.Arg68Ter)
c.745A>T (p.Arg249Ter)
c.-98-6867A>T (n.-98-6867A>T)
n.5408A>T
n.5449A>T
 ClinVar dbSNP
17g.43057057T>CCA10591010BRCA1c.5269A>G (p.Arg1757Gly)
c.5272A>G (p.Arg1758Gly)
c.5146A>G (p.Arg1716Gly)
c.5266A>G (p.Arg1756Gly)
c.5194A>G (p.Arg1732Gly)
c.1960A>G (p.Arg654Gly)
c.1822A>G (p.Arg608Gly)
c.4384A>G (p.Arg1462Gly)
c.5149A>G (p.Arg1717Gly)
c.5338A>G (p.Arg1780Gly)
c.5131A>G (p.Arg1711Gly)
c.1834A>G (p.Arg612Gly)
c.5335A>G (p.Arg1779Gly)
c.1659A>G
c.1846A>G (p.Arg616Gly)
c.*5055A>G (n.*5055A>G)
c.202A>G (p.Arg68Gly)
c.745A>G (p.Arg249Gly)
c.-98-6867A>G (n.-98-6867A>G)
n.5408A>G
n.5449A>G
 ClinVar dbSNP gnomAD v4
17g.43057057T>GCA500144484BRCA1c.5269A>C (p.Arg1757=)
c.5272A>C (p.Arg1758=)
c.5146A>C (p.Arg1716=)
c.5266A>C (p.Arg1756=)
c.5194A>C (p.Arg1732=)
c.1960A>C (p.Arg654=)
c.1822A>C (p.Arg608=)
c.4384A>C (p.Arg1462=)
c.5149A>C (p.Arg1717=)
c.5338A>C (p.Arg1780=)
c.5131A>C (p.Arg1711=)
c.1834A>C (p.Arg612=)
c.5335A>C (p.Arg1779=)
c.1659A>C
c.1846A>C (p.Arg616=)
c.*5055A>C (n.*5055A>C)
c.202A>C (p.Arg68=)
c.745A>C (p.Arg249=)
c.-98-6867A>C (n.-98-6867A>C)
n.5408A>C
n.5449A>C
 ClinVar dbSNP
17g.43057057T=CA2260766368BRCA1c.5269A= (p.Arg1757=)
c.5272A= (p.Arg1758=)
c.5146A= (p.Arg1716=)
c.5266A= (p.Arg1756=)
c.5194A= (p.Arg1732=)
c.1960A= (p.Arg654=)
c.1822A= (p.Arg608=)
c.4384A= (p.Arg1462=)
c.5149A= (p.Arg1717=)
c.5338A= (p.Arg1780=)
c.5131A= (p.Arg1711=)
c.1834A= (p.Arg612=)
c.5335A= (p.Arg1779=)
c.1659A=
c.1846A= (p.Arg616=)
c.*5055A= (n.*5055A=)
c.202A= (p.Arg68=)
c.745A= (p.Arg249=)
c.-98-6867A= (n.-98-6867A=)
n.5408A=
n.5449A=
17g.43057058_43057059delCA2573054437BRCA1c.5268_5269del (p.Asp1756GlufsTer?)
c.5271_5272del (p.Asp1757GlufsTer?)
c.5145_5146del (p.Asp1715GlufsTer?)
c.5265_5266del (p.Asp1755GlufsTer?)
c.5193_5194del (p.Asp1731GlufsTer?)
c.1959_1960del (p.Asp653GlufsTer?)
c.1821_1822del (p.Asp607GlufsTer?)
c.4383_4384del (p.Asp1461GlufsTer?)
c.5148_5149del (p.Asp1716GlufsTer?)
c.5337_5338del (p.Asp1779GlufsTer?)
c.5130_5131del (p.Asp1710GlufsTer?)
c.1833_1834del (p.Asp611GlufsTer?)
c.5334_5335del (p.Asp1778GlufsTer?)
c.1658_1659del
c.1845_1846del (p.Asp615GlufsTer?)
c.*5054_*5055del (n.*5054_*5055del)
c.201_202del (p.Asp67GlufsTer?)
c.744_745del (p.Asp248GlufsTer?)
c.-98-6868_-98-6867del (n.-98-6868_-98-6867del)
n.5407_5408del
n.5448_5449del
 ClinVar dbSNP
17g.43057058G>ACA500144489BRCA1c.5268C>T (p.Asp1756=)
c.5271C>T (p.Asp1757=)
c.5145C>T (p.Asp1715=)
c.5265C>T (p.Asp1755=)
c.5193C>T (p.Asp1731=)
c.1959C>T (p.Asp653=)
c.1821C>T (p.Asp607=)
c.4383C>T (p.Asp1461=)
c.5148C>T (p.Asp1716=)
c.5337C>T (p.Asp1779=)
c.5130C>T (p.Asp1710=)
c.1833C>T (p.Asp611=)
c.5334C>T (p.Asp1778=)
c.1658C>T
c.1845C>T (p.Asp615=)
c.*5054C>T (n.*5054C>T)
c.201C>T (p.Asp67=)
c.744C>T (p.Asp248=)
c.-98-6868C>T (n.-98-6868C>T)
n.5407C>T
n.5448C>T
 ClinVar dbSNP gnomAD v4
17g.43057058G>CCA10591011BRCA1c.5268C>G (p.Asp1756Glu)
c.5271C>G (p.Asp1757Glu)
c.5145C>G (p.Asp1715Glu)
c.5265C>G (p.Asp1755Glu)
c.5193C>G (p.Asp1731Glu)
c.1959C>G (p.Asp653Glu)
c.1821C>G (p.Asp607Glu)
c.4383C>G (p.Asp1461Glu)
c.5148C>G (p.Asp1716Glu)
c.5337C>G (p.Asp1779Glu)
c.5130C>G (p.Asp1710Glu)
c.1833C>G (p.Asp611Glu)
c.5334C>G (p.Asp1778Glu)
c.1658C>G
c.1845C>G (p.Asp615Glu)
c.*5054C>G (n.*5054C>G)
c.201C>G (p.Asp67Glu)
c.744C>G (p.Asp248Glu)
c.-98-6868C>G (n.-98-6868C>G)
n.5407C>G
n.5448C>G
 ClinVar dbSNP
17g.43057058G=CA2260766369BRCA1c.5268C= (p.Asp1756=)
c.5271C= (p.Asp1757=)
c.5145C= (p.Asp1715=)
c.5265C= (p.Asp1755=)
c.5193C= (p.Asp1731=)
c.1959C= (p.Asp653=)
c.1821C= (p.Asp607=)
c.4383C= (p.Asp1461=)
c.5148C= (p.Asp1716=)
c.5337C= (p.Asp1779=)
c.5130C= (p.Asp1710=)
c.1833C= (p.Asp611=)
c.5334C= (p.Asp1778=)
c.1658C=
c.1845C= (p.Asp615=)
c.*5054C= (n.*5054C=)
c.201C= (p.Asp67=)
c.744C= (p.Asp248=)
c.-98-6868C= (n.-98-6868C=)
n.5407C=
n.5448C=
17g.43057058G>TCA10591012BRCA1c.5268C>A (p.Asp1756Glu)
c.5271C>A (p.Asp1757Glu)
c.5145C>A (p.Asp1715Glu)
c.5265C>A (p.Asp1755Glu)
c.5193C>A (p.Asp1731Glu)
c.1959C>A (p.Asp653Glu)
c.1821C>A (p.Asp607Glu)
c.4383C>A (p.Asp1461Glu)
c.5148C>A (p.Asp1716Glu)
c.5337C>A (p.Asp1779Glu)
c.5130C>A (p.Asp1710Glu)
c.1833C>A (p.Asp611Glu)
c.5334C>A (p.Asp1778Glu)
c.1658C>A
c.1845C>A (p.Asp615Glu)
c.*5054C>A (n.*5054C>A)
c.201C>A (p.Asp67Glu)
c.744C>A (p.Asp248Glu)
c.-98-6868C>A (n.-98-6868C>A)
n.5407C>A
n.5448C>A
 ClinVar dbSNP
17g.43057058_43057061delCA2586963903BRCA1c.5265_5268del (p.Asp1756GlufsTer7)
c.5268_5271del (p.Asp1757GlufsTer7)
c.5142_5145del (p.Asp1715GlufsTer7)
c.5262_5265del (p.Asp1755GlufsTer7)
c.5190_5193del (p.Asp1731GlufsTer7)
c.1956_1959del (p.Asp653GlufsTer7)
c.1818_1821del (p.Asp607GlufsTer7)
c.4380_4383del (p.Asp1461GlufsTer7)
c.5145_5148del (p.Asp1716GlufsTer7)
c.5334_5337del (p.Asp1779GlufsTer7)
c.5127_5130del (p.Asp1710GlufsTer7)
c.1830_1833del (p.Asp611GlufsTer7)
c.5331_5334del (p.Asp1778GlufsTer7)
c.1655_1658del
c.1842_1845del (p.Asp615GlufsTer7)
c.*5051_*5054del (n.*5051_*5054del)
c.198_201del (p.Asp67GlufsTer7)
c.741_744del (p.Asp248GlufsTer7)
c.-98-6871_-98-6868del (n.-98-6871_-98-6868del)
n.5404_5407del
n.5445_5448del
17g.43057059T>ACA10591013BRCA1c.5267A>T (p.Asp1756Val)
c.5270A>T (p.Asp1757Val)
c.5144A>T (p.Asp1715Val)
c.5264A>T (p.Asp1755Val)
c.5192A>T (p.Asp1731Val)
c.1958A>T (p.Asp653Val)
c.1820A>T (p.Asp607Val)
c.4382A>T (p.Asp1461Val)
c.5147A>T (p.Asp1716Val)
c.5336A>T (p.Asp1779Val)
c.5129A>T (p.Asp1710Val)
c.1832A>T (p.Asp611Val)
c.5333A>T (p.Asp1778Val)
c.1657A>T
c.1844A>T (p.Asp615Val)
c.*5053A>T (n.*5053A>T)
c.200A>T (p.Asp67Val)
c.743A>T (p.Asp248Val)
c.-98-6869A>T (n.-98-6869A>T)
n.5406A>T
n.5447A>T
 ClinVar dbSNP
17g.43057059T>CCA10591014BRCA1c.5267A>G (p.Asp1756Gly)
c.5270A>G (p.Asp1757Gly)
c.5144A>G (p.Asp1715Gly)
c.5264A>G (p.Asp1755Gly)
c.5192A>G (p.Asp1731Gly)
c.1958A>G (p.Asp653Gly)
c.1820A>G (p.Asp607Gly)
c.4382A>G (p.Asp1461Gly)
c.5147A>G (p.Asp1716Gly)
c.5336A>G (p.Asp1779Gly)
c.5129A>G (p.Asp1710Gly)
c.1832A>G (p.Asp611Gly)
c.5333A>G (p.Asp1778Gly)
c.1657A>G
c.1844A>G (p.Asp615Gly)
c.*5053A>G (n.*5053A>G)
c.200A>G (p.Asp67Gly)
c.743A>G (p.Asp248Gly)
c.-98-6869A>G (n.-98-6869A>G)
n.5406A>G
n.5447A>G
 ClinVar dbSNP
17g.43057059T>GCA10591015BRCA1c.5267A>C (p.Asp1756Ala)
c.5270A>C (p.Asp1757Ala)
c.5144A>C (p.Asp1715Ala)
c.5264A>C (p.Asp1755Ala)
c.5192A>C (p.Asp1731Ala)
c.1958A>C (p.Asp653Ala)
c.1820A>C (p.Asp607Ala)
c.4382A>C (p.Asp1461Ala)
c.5147A>C (p.Asp1716Ala)
c.5336A>C (p.Asp1779Ala)
c.5129A>C (p.Asp1710Ala)
c.1832A>C (p.Asp611Ala)
c.5333A>C (p.Asp1778Ala)
c.1657A>C
c.1844A>C (p.Asp615Ala)
c.*5053A>C (n.*5053A>C)
c.200A>C (p.Asp67Ala)
c.743A>C (p.Asp248Ala)
c.-98-6869A>C (n.-98-6869A>C)
n.5406A>C
n.5447A>C
 ClinVar dbSNP
17g.43057059T=CA2260766370BRCA1c.5267A= (p.Asp1756=)
c.5270A= (p.Asp1757=)
c.5144A= (p.Asp1715=)
c.5264A= (p.Asp1755=)
c.5192A= (p.Asp1731=)
c.1958A= (p.Asp653=)
c.1820A= (p.Asp607=)
c.4382A= (p.Asp1461=)
c.5147A= (p.Asp1716=)
c.5336A= (p.Asp1779=)
c.5129A= (p.Asp1710=)
c.1832A= (p.Asp611=)
c.5333A= (p.Asp1778=)
c.1657A=
c.1844A= (p.Asp615=)
c.*5053A= (n.*5053A=)
c.200A= (p.Asp67=)
c.743A= (p.Asp248=)
c.-98-6869A= (n.-98-6869A=)
n.5406A=
n.5447A=
17g.43057059_43057060insGCA658824711BRCA1c.5266_5267insC (p.Asp1756AlafsTer?)
c.5269_5270insC (p.Asp1757AlafsTer?)
c.5143_5144insC (p.Asp1715AlafsTer?)
c.5263_5264insC (p.Asp1755AlafsTer?)
c.5191_5192insC (p.Asp1731AlafsTer?)
c.1957_1958insC (p.Asp653AlafsTer?)
c.1819_1820insC (p.Asp607AlafsTer?)
c.4381_4382insC (p.Asp1461AlafsTer?)
c.5146_5147insC (p.Asp1716AlafsTer?)
c.5335_5336insC (p.Asp1779AlafsTer?)
c.5128_5129insC (p.Asp1710AlafsTer?)
c.1831_1832insC (p.Asp611AlafsTer?)
c.5332_5333insC (p.Asp1778AlafsTer?)
c.1656_1657insC
c.1843_1844insC (p.Asp615AlafsTer?)
c.*5052_*5053insC (n.*5052_*5053insC)
c.199_200insC (p.Asp67AlafsTer?)
c.742_743insC (p.Asp248AlafsTer?)
c.-98-6870_-98-6869insC (n.-98-6870_-98-6869insC)
n.5405_5406insC
n.5446_5447insC
 ClinVar dbSNP
17g.43057060C>ACA10591016BRCA1c.5266G>T (p.Asp1756Tyr)
c.5269G>T (p.Asp1757Tyr)
c.5143G>T (p.Asp1715Tyr)
c.5263G>T (p.Asp1755Tyr)
c.5191G>T (p.Asp1731Tyr)
c.1957G>T (p.Asp653Tyr)
c.1819G>T (p.Asp607Tyr)
c.4381G>T (p.Asp1461Tyr)
c.5146G>T (p.Asp1716Tyr)
c.5335G>T (p.Asp1779Tyr)
c.5128G>T (p.Asp1710Tyr)
c.1831G>T (p.Asp611Tyr)
c.5332G>T (p.Asp1778Tyr)
c.1656G>T
c.1843G>T (p.Asp615Tyr)
c.*5052G>T (n.*5052G>T)
c.199G>T (p.Asp67Tyr)
c.742G>T (p.Asp248Tyr)
c.-98-6870G>T (n.-98-6870G>T)
n.5405G>T
n.5446G>T
 ClinVar dbSNP
17g.43057060C=CA2260766371BRCA1c.5266G= (p.Asp1756=)
c.5269G= (p.Asp1757=)
c.5143G= (p.Asp1715=)
c.5263G= (p.Asp1755=)
c.5191G= (p.Asp1731=)
c.1957G= (p.Asp653=)
c.1819G= (p.Asp607=)
c.4381G= (p.Asp1461=)
c.5146G= (p.Asp1716=)
c.5335G= (p.Asp1779=)
c.5128G= (p.Asp1710=)
c.1831G= (p.Asp611=)
c.5332G= (p.Asp1778=)
c.1656G=
c.1843G= (p.Asp615=)
c.*5052G= (n.*5052G=)
c.199G= (p.Asp67=)
c.742G= (p.Asp248=)
c.-98-6870G= (n.-98-6870G=)
n.5405G=
n.5446G=
17g.43057060C>GCA337215BRCA1c.5266G>C (p.Asp1756His)
c.5269G>C (p.Asp1757His)
c.5143G>C (p.Asp1715His)
c.5263G>C (p.Asp1755His)
c.5191G>C (p.Asp1731His)
c.1957G>C (p.Asp653His)
c.1819G>C (p.Asp607His)
c.4381G>C (p.Asp1461His)
c.5146G>C (p.Asp1716His)
c.5335G>C (p.Asp1779His)
c.5128G>C (p.Asp1710His)
c.1831G>C (p.Asp611His)
c.5332G>C (p.Asp1778His)
c.1656G>C
c.1843G>C (p.Asp615His)
c.*5052G>C (n.*5052G>C)
c.199G>C (p.Asp67His)
c.742G>C (p.Asp248His)
c.-98-6870G>C (n.-98-6870G>C)
n.5405G>C
n.5446G>C
 ClinVar dbSNP gnomAD v4
17g.43057060C>TCA10591017BRCA1c.5266G>A (p.Asp1756Asn)
c.5269G>A (p.Asp1757Asn)
c.5143G>A (p.Asp1715Asn)
c.5263G>A (p.Asp1755Asn)
c.5191G>A (p.Asp1731Asn)
c.1957G>A (p.Asp653Asn)
c.1819G>A (p.Asp607Asn)
c.4381G>A (p.Asp1461Asn)
c.5146G>A (p.Asp1716Asn)
c.5335G>A (p.Asp1779Asn)
c.5128G>A (p.Asp1710Asn)
c.1831G>A (p.Asp611Asn)
c.5332G>A (p.Asp1778Asn)
c.1656G>A
c.1843G>A (p.Asp615Asn)
c.*5052G>A (n.*5052G>A)
c.199G>A (p.Asp67Asn)
c.742G>A (p.Asp248Asn)
c.-98-6870G>A (n.-98-6870G>A)
n.5405G>A
n.5446G>A
 ClinVar dbSNP
17g.43057060_43057061insGCA003411BRCA1c.5265_5266insC (p.Asp1756ArgfsTer?)
c.5268_5269insC (p.Asp1757ArgfsTer?)
c.5142_5143insC (p.Asp1715ArgfsTer?)
c.5262_5263insC (p.Asp1755ArgfsTer?)
c.5190_5191insC (p.Asp1731ArgfsTer?)
c.1956_1957insC (p.Asp653ArgfsTer?)
c.1818_1819insC (p.Asp607ArgfsTer?)
c.4380_4381insC (p.Asp1461ArgfsTer?)
c.5145_5146insC (p.Asp1716ArgfsTer?)
c.5334_5335insC (p.Asp1779ArgfsTer?)
c.5127_5128insC (p.Asp1710ArgfsTer?)
c.1830_1831insC (p.Asp611ArgfsTer?)
c.5331_5332insC (p.Asp1778ArgfsTer?)
c.1655_1656insC
c.1842_1843insC (p.Asp615ArgfsTer?)
c.*5051_*5052insC (n.*5051_*5052insC)
c.198_199insC (p.Asp67ArgfsTer?)
c.741_742insC (p.Asp248ArgfsTer?)
c.-98-6871_-98-6870insC (n.-98-6871_-98-6870insC)
n.5404_5405insC
n.5445_5446insC
 ClinVar dbSNP
17g.43057061C>ACA10591018BRCA1c.5265G>T (p.Gln1755His)
c.5268G>T (p.Gln1756His)
c.5142G>T (p.Gln1714His)
c.5262G>T (p.Gln1754His)
c.5190G>T (p.Gln1730His)
c.1956G>T (p.Gln652His)
c.1818G>T (p.Gln606His)
c.4380G>T (p.Gln1460His)
c.5145G>T (p.Gln1715His)
c.5334G>T (p.Gln1778His)
c.5127G>T (p.Gln1709His)
c.1830G>T (p.Gln610His)
c.5331G>T (p.Gln1777His)
c.1655G>T
c.1842G>T (p.Gln614His)
c.*5051G>T (n.*5051G>T)
c.198G>T (p.Gln66His)
c.741G>T (p.Gln247His)
c.-98-6871G>T (n.-98-6871G>T)
n.5404G>T
n.5445G>T
 ClinVar dbSNP
17g.43057061C=CA2260766372BRCA1c.5265G= (p.Gln1755=)
c.5268G= (p.Gln1756=)
c.5142G= (p.Gln1714=)
c.5262G= (p.Gln1754=)
c.5190G= (p.Gln1730=)
c.1956G= (p.Gln652=)
c.1818G= (p.Gln606=)
c.4380G= (p.Gln1460=)
c.5145G= (p.Gln1715=)
c.5334G= (p.Gln1778=)
c.5127G= (p.Gln1709=)
c.1830G= (p.Gln610=)
c.5331G= (p.Gln1777=)
c.1655G=
c.1842G= (p.Gln614=)
c.*5051G= (n.*5051G=)
c.198G= (p.Gln66=)
c.741G= (p.Gln247=)
c.-98-6871G= (n.-98-6871G=)
n.5404G=
n.5445G=
17g.43057061C>GCA10591019BRCA1c.5265G>C (p.Gln1755His)
c.5268G>C (p.Gln1756His)
c.5142G>C (p.Gln1714His)
c.5262G>C (p.Gln1754His)
c.5190G>C (p.Gln1730His)
c.1956G>C (p.Gln652His)
c.1818G>C (p.Gln606His)
c.4380G>C (p.Gln1460His)
c.5145G>C (p.Gln1715His)
c.5334G>C (p.Gln1778His)
c.5127G>C (p.Gln1709His)
c.1830G>C (p.Gln610His)
c.5331G>C (p.Gln1777His)
c.1655G>C
c.1842G>C (p.Gln614His)
c.*5051G>C (n.*5051G>C)
c.198G>C (p.Gln66His)
c.741G>C (p.Gln247His)
c.-98-6871G>C (n.-98-6871G>C)
n.5404G>C
n.5445G>C
 ClinVar dbSNP
17g.43057061C>TCA054286BRCA1c.5265G>A (p.Gln1755=)
c.5268G>A (p.Gln1756=)
c.5142G>A (p.Gln1714=)
c.5262G>A (p.Gln1754=)
c.5190G>A (p.Gln1730=)
c.1956G>A (p.Gln652=)
c.1818G>A (p.Gln606=)
c.4380G>A (p.Gln1460=)
c.5145G>A (p.Gln1715=)
c.5334G>A (p.Gln1778=)
c.5127G>A (p.Gln1709=)
c.1830G>A (p.Gln610=)
c.5331G>A (p.Gln1777=)
c.1655G>A
c.1842G>A (p.Gln614=)
c.*5051G>A (n.*5051G>A)
c.198G>A (p.Gln66=)
c.741G>A (p.Gln247=)
c.-98-6871G>A (n.-98-6871G>A)
n.5404G>A
n.5445G>A
 ClinVar dbSNP ExAC gnomAD v2
17g.43057061_43057062insGCA10589603BRCA1c.5264_5265insC (p.Gln1755HisfsTer?)
c.5267_5268insC (p.Gln1756HisfsTer?)
c.5141_5142insC (p.Gln1714HisfsTer?)
c.5261_5262insC (p.Gln1754HisfsTer?)
c.5189_5190insC (p.Gln1730HisfsTer?)
c.1955_1956insC (p.Gln652HisfsTer?)
c.1817_1818insC (p.Gln606HisfsTer?)
c.4379_4380insC (p.Gln1460HisfsTer?)
c.5144_5145insC (p.Gln1715HisfsTer?)
c.5333_5334insC (p.Gln1778HisfsTer?)
c.5126_5127insC (p.Gln1709HisfsTer?)
c.1829_1830insC (p.Gln610HisfsTer?)
c.5330_5331insC (p.Gln1777HisfsTer?)
c.1654_1655insC
c.1841_1842insC (p.Gln614HisfsTer?)
c.*5050_*5051insC (n.*5050_*5051insC)
c.197_198insC (p.Gln66HisfsTer?)
c.740_741insC (p.Gln247HisfsTer?)
c.-98-6872_-98-6871insC (n.-98-6872_-98-6871insC)
n.5403_5404insC
n.5444_5445insC
 ClinVar dbSNP
17g.43057062T>ACA10591020BRCA1c.5264A>T (p.Gln1755Leu)
c.5267A>T (p.Gln1756Leu)
c.5141A>T (p.Gln1714Leu)
c.5261A>T (p.Gln1754Leu)
c.5189A>T (p.Gln1730Leu)
c.1955A>T (p.Gln652Leu)
c.1817A>T (p.Gln606Leu)
c.4379A>T (p.Gln1460Leu)
c.5144A>T (p.Gln1715Leu)
c.5333A>T (p.Gln1778Leu)
c.5126A>T (p.Gln1709Leu)
c.1829A>T (p.Gln610Leu)
c.5330A>T (p.Gln1777Leu)
c.1654A>T
c.1841A>T (p.Gln614Leu)
c.*5050A>T (n.*5050A>T)
c.197A>T (p.Gln66Leu)
c.740A>T (p.Gln247Leu)
c.-98-6872A>T (n.-98-6872A>T)
n.5403A>T
n.5444A>T
 ClinVar dbSNP
17g.43057062T>CCA10591021BRCA1c.5264A>G (p.Gln1755Arg)
c.5267A>G (p.Gln1756Arg)
c.5141A>G (p.Gln1714Arg)
c.5261A>G (p.Gln1754Arg)
c.5189A>G (p.Gln1730Arg)
c.1955A>G (p.Gln652Arg)
c.1817A>G (p.Gln606Arg)
c.4379A>G (p.Gln1460Arg)
c.5144A>G (p.Gln1715Arg)
c.5333A>G (p.Gln1778Arg)
c.5126A>G (p.Gln1709Arg)
c.1829A>G (p.Gln610Arg)
c.5330A>G (p.Gln1777Arg)
c.1654A>G
c.1841A>G (p.Gln614Arg)
c.*5050A>G (n.*5050A>G)
c.197A>G (p.Gln66Arg)
c.740A>G (p.Gln247Arg)
c.-98-6872A>G (n.-98-6872A>G)
n.5403A>G
n.5444A>G
 ClinVar dbSNP
17g.43057062T>GCA10591022BRCA1c.5264A>C (p.Gln1755Pro)
c.5267A>C (p.Gln1756Pro)
c.5141A>C (p.Gln1714Pro)
c.5261A>C (p.Gln1754Pro)
c.5189A>C (p.Gln1730Pro)
c.1955A>C (p.Gln652Pro)
c.1817A>C (p.Gln606Pro)
c.4379A>C (p.Gln1460Pro)
c.5144A>C (p.Gln1715Pro)
c.5333A>C (p.Gln1778Pro)
c.5126A>C (p.Gln1709Pro)
c.1829A>C (p.Gln610Pro)
c.5330A>C (p.Gln1777Pro)
c.1654A>C
c.1841A>C (p.Gln614Pro)
c.*5050A>C (n.*5050A>C)
c.197A>C (p.Gln66Pro)
c.740A>C (p.Gln247Pro)
c.-98-6872A>C (n.-98-6872A>C)
n.5403A>C
n.5444A>C
 ClinVar dbSNP
17g.43057062T=CA2260766373BRCA1c.5264A= (p.Gln1755=)
c.5267A= (p.Gln1756=)
c.5141A= (p.Gln1714=)
c.5261A= (p.Gln1754=)
c.5189A= (p.Gln1730=)
c.1955A= (p.Gln652=)
c.1817A= (p.Gln606=)
c.4379A= (p.Gln1460=)
c.5144A= (p.Gln1715=)
c.5333A= (p.Gln1778=)
c.5126A= (p.Gln1709=)
c.1829A= (p.Gln610=)
c.5330A= (p.Gln1777=)
c.1654A=
c.1841A= (p.Gln614=)
c.*5050A= (n.*5050A=)
c.197A= (p.Gln66=)
c.740A= (p.Gln247=)
c.-98-6872A= (n.-98-6872A=)
n.5403A=
n.5444A=
17g.43057062_43057063dupCA1139665561BRCA1c.5263_5264dup (p.Gln1755HisfsTer10)
c.5266_5267dup (p.Gln1756HisfsTer10)
c.5140_5141dup (p.Gln1714HisfsTer10)
c.5260_5261dup (p.Gln1754HisfsTer10)
c.5188_5189dup (p.Gln1730HisfsTer10)
c.1954_1955dup (p.Gln652HisfsTer10)
c.1816_1817dup (p.Gln606HisfsTer10)
c.4378_4379dup (p.Gln1460HisfsTer10)
c.5143_5144dup (p.Gln1715HisfsTer10)
c.5332_5333dup (p.Gln1778HisfsTer10)
c.5125_5126dup (p.Gln1709HisfsTer10)
c.1828_1829dup (p.Gln610HisfsTer10)
c.5329_5330dup (p.Gln1777HisfsTer10)
c.1653_1654dup
c.1840_1841dup (p.Gln614HisfsTer10)
c.*5049_*5050dup (n.*5049_*5050dup)
c.196_197dup (p.Gln66HisfsTer10)
c.739_740dup (p.Gln247HisfsTer10)
c.-98-6873_-98-6872dup (n.-98-6873_-98-6872dup)
n.5402_5403dup
n.5443_5444dup
 ClinVar dbSNP
17g.43057063G>ACA003410BRCA1c.5263C>T (p.Gln1755Ter)
c.5266C>T (p.Gln1756Ter)
c.5140C>T (p.Gln1714Ter)
c.5260C>T (p.Gln1754Ter)
c.5188C>T (p.Gln1730Ter)
c.1954C>T (p.Gln652Ter)
c.1816C>T (p.Gln606Ter)
c.4378C>T (p.Gln1460Ter)
c.5143C>T (p.Gln1715Ter)
c.5332C>T (p.Gln1778Ter)
c.5125C>T (p.Gln1709Ter)
c.1828C>T (p.Gln610Ter)
c.5329C>T (p.Gln1777Ter)
c.1653C>T
c.1840C>T (p.Gln614Ter)
c.*5049C>T (n.*5049C>T)
c.196C>T (p.Gln66Ter)
c.739C>T (p.Gln247Ter)
c.-98-6873C>T (n.-98-6873C>T)
n.5402C>T
n.5443C>T
 ClinVar dbSNP
17g.43057063G>CCA10591023BRCA1c.5263C>G (p.Gln1755Glu)
c.5266C>G (p.Gln1756Glu)
c.5140C>G (p.Gln1714Glu)
c.5260C>G (p.Gln1754Glu)
c.5188C>G (p.Gln1730Glu)
c.1954C>G (p.Gln652Glu)
c.1816C>G (p.Gln606Glu)
c.4378C>G (p.Gln1460Glu)
c.5143C>G (p.Gln1715Glu)
c.5332C>G (p.Gln1778Glu)
c.5125C>G (p.Gln1709Glu)
c.1828C>G (p.Gln610Glu)
c.5329C>G (p.Gln1777Glu)
c.1653C>G
c.1840C>G (p.Gln614Glu)
c.*5049C>G (n.*5049C>G)
c.196C>G (p.Gln66Glu)
c.739C>G (p.Gln247Glu)
c.-98-6873C>G (n.-98-6873C>G)
n.5402C>G
n.5443C>G
 ClinVar dbSNP gnomAD v4
17g.43057063G=CA2260766374BRCA1c.5263C= (p.Gln1755=)
c.5266C= (p.Gln1756=)
c.5140C= (p.Gln1714=)
c.5260C= (p.Gln1754=)
c.5188C= (p.Gln1730=)
c.1954C= (p.Gln652=)
c.1816C= (p.Gln606=)
c.4378C= (p.Gln1460=)
c.5143C= (p.Gln1715=)
c.5332C= (p.Gln1778=)
c.5125C= (p.Gln1709=)
c.1828C= (p.Gln610=)
c.5329C= (p.Gln1777=)
c.1653C=
c.1840C= (p.Gln614=)
c.*5049C= (n.*5049C=)
c.196C= (p.Gln66=)
c.739C= (p.Gln247=)
c.-98-6873C= (n.-98-6873C=)
n.5402C=
n.5443C=
17g.43057063G>TCA10591024BRCA1c.5263C>A (p.Gln1755Lys)
c.5266C>A (p.Gln1756Lys)
c.5140C>A (p.Gln1714Lys)
c.5260C>A (p.Gln1754Lys)
c.5188C>A (p.Gln1730Lys)
c.1954C>A (p.Gln652Lys)
c.1816C>A (p.Gln606Lys)
c.4378C>A (p.Gln1460Lys)
c.5143C>A (p.Gln1715Lys)
c.5332C>A (p.Gln1778Lys)
c.5125C>A (p.Gln1709Lys)
c.1828C>A (p.Gln610Lys)
c.5329C>A (p.Gln1777Lys)
c.1653C>A
c.1840C>A (p.Gln614Lys)
c.*5049C>A (n.*5049C>A)
c.196C>A (p.Gln66Lys)
c.739C>A (p.Gln247Lys)
c.-98-6873C>A (n.-98-6873C>A)
n.5402C>A
n.5443C>A
 ClinVar dbSNP
17g.43057065dupCA003404BRCA1c.5263dup (p.Gln1755ProfsTer?)
c.5266dup (p.Gln1756ProfsTer?)
c.5140dup (p.Gln1714ProfsTer?)
c.5260dup (p.Gln1754ProfsTer?)
c.5188dup (p.Gln1730ProfsTer?)
c.1954dup (p.Gln652ProfsTer?)
c.1816dup (p.Gln606ProfsTer?)
c.4378dup (p.Gln1460ProfsTer?)
c.5143dup (p.Gln1715ProfsTer?)
c.5332dup (p.Gln1778ProfsTer?)
c.5125dup (p.Gln1709ProfsTer?)
c.1828dup (p.Gln610ProfsTer?)
c.5329dup (p.Gln1777ProfsTer?)
c.1653dup
c.1840dup (p.Gln614ProfsTer?)
c.*5049dup (n.*5049dup)
c.196dup (p.Gln66ProfsTer?)
c.739dup (p.Gln247ProfsTer?)
c.-98-6873dup (n.-98-6873dup)
n.5402dup
n.5443dup
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17g.43057065delCA658761202BRCA1c.5263del (p.Gln1755ArgfsTer9)
c.5266del (p.Gln1756ArgfsTer9)
c.5140del (p.Gln1714ArgfsTer9)
c.5260del (p.Gln1754ArgfsTer9)
c.5188del (p.Gln1730ArgfsTer9)
c.1954del (p.Gln652ArgfsTer9)
c.1816del (p.Gln606ArgfsTer9)
c.4378del (p.Gln1460ArgfsTer9)
c.5143del (p.Gln1715ArgfsTer9)
c.5332del (p.Gln1778ArgfsTer9)
c.5125del (p.Gln1709ArgfsTer9)
c.1828del (p.Gln610ArgfsTer9)
c.5329del (p.Gln1777ArgfsTer9)
c.1653del
c.1840del (p.Gln614ArgfsTer9)
c.*5049del (n.*5049del)
c.196del (p.Gln66ArgfsTer9)
c.739del (p.Gln247ArgfsTer9)
c.-98-6873del (n.-98-6873del)
n.5402del
n.5443del
17g.43057064G>ACA500144530BRCA1c.5262C>T (p.Ser1754=)
c.5265C>T (p.Ser1755=)
c.5139C>T (p.Ser1713=)
c.5259C>T (p.Ser1753=)
c.5187C>T (p.Ser1729=)
c.1953C>T (p.Ser651=)
c.1815C>T (p.Ser605=)
c.4377C>T (p.Ser1459=)
c.5142C>T (p.Ser1714=)
c.5331C>T (p.Ser1777=)
c.5124C>T (p.Ser1708=)
c.1827C>T (p.Ser609=)
c.5328C>T (p.Ser1776=)
c.1652C>T
c.1839C>T (p.Ser613=)
c.*5048C>T (n.*5048C>T)
c.195C>T (p.Ser65=)
c.738C>T (p.Ser246=)
c.-98-6874C>T (n.-98-6874C>T)
n.5401C>T
n.5442C>T
 ClinVar dbSNP
17g.43057064G>CCA500144526BRCA1c.5262C>G (p.Ser1754=)
c.5265C>G (p.Ser1755=)
c.5139C>G (p.Ser1713=)
c.5259C>G (p.Ser1753=)
c.5187C>G (p.Ser1729=)
c.1953C>G (p.Ser651=)
c.1815C>G (p.Ser605=)
c.4377C>G (p.Ser1459=)
c.5142C>G (p.Ser1714=)
c.5331C>G (p.Ser1777=)
c.5124C>G (p.Ser1708=)
c.1827C>G (p.Ser609=)
c.5328C>G (p.Ser1776=)
c.1652C>G
c.1839C>G (p.Ser613=)
c.*5048C>G (n.*5048C>G)
c.195C>G (p.Ser65=)
c.738C>G (p.Ser246=)
c.-98-6874C>G (n.-98-6874C>G)
n.5401C>G
n.5442C>G
 ClinVar dbSNP
17g.43057064G=CA2260766375BRCA1c.5262C= (p.Ser1754=)
c.5265C= (p.Ser1755=)
c.5139C= (p.Ser1713=)
c.5259C= (p.Ser1753=)
c.5187C= (p.Ser1729=)
c.1953C= (p.Ser651=)
c.1815C= (p.Ser605=)
c.4377C= (p.Ser1459=)
c.5142C= (p.Ser1714=)
c.5331C= (p.Ser1777=)
c.5124C= (p.Ser1708=)
c.1827C= (p.Ser609=)
c.5328C= (p.Ser1776=)
c.1652C=
c.1839C= (p.Ser613=)
c.*5048C= (n.*5048C=)
c.195C= (p.Ser65=)
c.738C= (p.Ser246=)
c.-98-6874C= (n.-98-6874C=)
n.5401C=
n.5442C=
17g.43057064G>TCA500144528BRCA1c.5262C>A (p.Ser1754=)
c.5265C>A (p.Ser1755=)
c.5139C>A (p.Ser1713=)
c.5259C>A (p.Ser1753=)
c.5187C>A (p.Ser1729=)
c.1953C>A (p.Ser651=)
c.1815C>A (p.Ser605=)
c.4377C>A (p.Ser1459=)
c.5142C>A (p.Ser1714=)
c.5331C>A (p.Ser1777=)
c.5124C>A (p.Ser1708=)
c.1827C>A (p.Ser609=)
c.5328C>A (p.Ser1776=)
c.1652C>A
c.1839C>A (p.Ser613=)
c.*5048C>A (n.*5048C>A)
c.195C>A (p.Ser65=)
c.738C>A (p.Ser246=)
c.-98-6874C>A (n.-98-6874C>A)
n.5401C>A
n.5442C>A
 ClinVar dbSNP
17g.43057065G>ACA10591025BRCA1c.5261C>T (p.Ser1754Phe)
c.5264C>T (p.Ser1755Phe)
c.5138C>T (p.Ser1713Phe)
c.5258C>T (p.Ser1753Phe)
c.5186C>T (p.Ser1729Phe)
c.1952C>T (p.Ser651Phe)
c.1814C>T (p.Ser605Phe)
c.4376C>T (p.Ser1459Phe)
c.5141C>T (p.Ser1714Phe)
c.5330C>T (p.Ser1777Phe)
c.5123C>T (p.Ser1708Phe)
c.1826C>T (p.Ser609Phe)
c.5327C>T (p.Ser1776Phe)
c.1651C>T
c.1838C>T (p.Ser613Phe)
c.*5047C>T (n.*5047C>T)
c.194C>T (p.Ser65Phe)
c.737C>T (p.Ser246Phe)
c.-98-6875C>T (n.-98-6875C>T)
n.5400C>T
n.5441C>T
 ClinVar dbSNP
17g.43057065G>CCA10591026BRCA1c.5261C>G (p.Ser1754Cys)
c.5264C>G (p.Ser1755Cys)
c.5138C>G (p.Ser1713Cys)
c.5258C>G (p.Ser1753Cys)
c.5186C>G (p.Ser1729Cys)
c.1952C>G (p.Ser651Cys)
c.1814C>G (p.Ser605Cys)
c.4376C>G (p.Ser1459Cys)
c.5141C>G (p.Ser1714Cys)
c.5330C>G (p.Ser1777Cys)
c.5123C>G (p.Ser1708Cys)
c.1826C>G (p.Ser609Cys)
c.5327C>G (p.Ser1776Cys)
c.1651C>G
c.1838C>G (p.Ser613Cys)
c.*5047C>G (n.*5047C>G)
c.194C>G (p.Ser65Cys)
c.737C>G (p.Ser246Cys)
c.-98-6875C>G (n.-98-6875C>G)
n.5400C>G
n.5441C>G
 ClinVar dbSNP
17g.43057065G=CA2260766376BRCA1c.5261C= (p.Ser1754=)
c.5264C= (p.Ser1755=)
c.5138C= (p.Ser1713=)
c.5258C= (p.Ser1753=)
c.5186C= (p.Ser1729=)
c.1952C= (p.Ser651=)
c.1814C= (p.Ser605=)
c.4376C= (p.Ser1459=)
c.5141C= (p.Ser1714=)
c.5330C= (p.Ser1777=)
c.5123C= (p.Ser1708=)
c.1826C= (p.Ser609=)
c.5327C= (p.Ser1776=)
c.1651C=
c.1838C= (p.Ser613=)
c.*5047C= (n.*5047C=)
c.194C= (p.Ser65=)
c.737C= (p.Ser246=)
c.-98-6875C= (n.-98-6875C=)
n.5400C=
n.5441C=
17g.43057065G>TCA10591027BRCA1c.5261C>A (p.Ser1754Tyr)
c.5264C>A (p.Ser1755Tyr)
c.5138C>A (p.Ser1713Tyr)
c.5258C>A (p.Ser1753Tyr)
c.5186C>A (p.Ser1729Tyr)
c.1952C>A (p.Ser651Tyr)
c.1814C>A (p.Ser605Tyr)
c.4376C>A (p.Ser1459Tyr)
c.5141C>A (p.Ser1714Tyr)
c.5330C>A (p.Ser1777Tyr)
c.5123C>A (p.Ser1708Tyr)
c.1826C>A (p.Ser609Tyr)
c.5327C>A (p.Ser1776Tyr)
c.1651C>A
c.1838C>A (p.Ser613Tyr)
c.*5047C>A (n.*5047C>A)
c.194C>A (p.Ser65Tyr)
c.737C>A (p.Ser246Tyr)
c.-98-6875C>A (n.-98-6875C>A)
n.5400C>A
n.5441C>A
 ClinVar dbSNP COSMIC COSMIC
17g.43057065_43057066dupCA2499224367BRCA1c.5260_5261dup (p.Gln1755ProfsTer10)
c.5263_5264dup (p.Gln1756ProfsTer10)
c.5137_5138dup (p.Gln1714ProfsTer10)
c.5257_5258dup (p.Gln1754ProfsTer10)
c.5185_5186dup (p.Gln1730ProfsTer10)
c.1951_1952dup (p.Gln652ProfsTer10)
c.1813_1814dup (p.Gln606ProfsTer10)
c.4375_4376dup (p.Gln1460ProfsTer10)
c.5140_5141dup (p.Gln1715ProfsTer10)
c.5329_5330dup (p.Gln1778ProfsTer10)
c.5122_5123dup (p.Gln1709ProfsTer10)
c.1825_1826dup (p.Gln610ProfsTer10)
c.5326_5327dup (p.Gln1777ProfsTer10)
c.1650_1651dup
c.1837_1838dup (p.Gln614ProfsTer10)
c.*5046_*5047dup (n.*5046_*5047dup)
c.193_194dup (p.Gln66ProfsTer10)
c.736_737dup (p.Gln247ProfsTer10)
c.-98-6876_-98-6875dup (n.-98-6876_-98-6875dup)
n.5399_5400dup
n.5440_5441dup
17g.43057066A=CA2260766377BRCA1c.5260T= (p.Ser1754=)
c.5263T= (p.Ser1755=)
c.5137T= (p.Ser1713=)
c.5257T= (p.Ser1753=)
c.5185T= (p.Ser1729=)
c.1951T= (p.Ser651=)
c.1813T= (p.Ser605=)
c.4375T= (p.Ser1459=)
c.5140T= (p.Ser1714=)
c.5329T= (p.Ser1777=)
c.5122T= (p.Ser1708=)
c.1825T= (p.Ser609=)
c.5326T= (p.Ser1776=)
c.1650T=
c.1837T= (p.Ser613=)
c.*5046T= (n.*5046T=)
c.193T= (p.Ser65=)
c.736T= (p.Ser246=)
c.-98-6876T= (n.-98-6876T=)
n.5399T=
n.5440T=
17g.43057066A>CCA10591028BRCA1c.5260T>G (p.Ser1754Ala)
c.5263T>G (p.Ser1755Ala)
c.5137T>G (p.Ser1713Ala)
c.5257T>G (p.Ser1753Ala)
c.5185T>G (p.Ser1729Ala)
c.1951T>G (p.Ser651Ala)
c.1813T>G (p.Ser605Ala)
c.4375T>G (p.Ser1459Ala)
c.5140T>G (p.Ser1714Ala)
c.5329T>G (p.Ser1777Ala)
c.5122T>G (p.Ser1708Ala)
c.1825T>G (p.Ser609Ala)
c.5326T>G (p.Ser1776Ala)
c.1650T>G
c.1837T>G (p.Ser613Ala)
c.*5046T>G (n.*5046T>G)
c.193T>G (p.Ser65Ala)
c.736T>G (p.Ser246Ala)
c.-98-6876T>G (n.-98-6876T>G)
n.5399T>G
n.5440T>G
 ClinVar dbSNP
17g.43057066A>GCA10591029BRCA1c.5260T>C (p.Ser1754Pro)
c.5263T>C (p.Ser1755Pro)
c.5137T>C (p.Ser1713Pro)
c.5257T>C (p.Ser1753Pro)
c.5185T>C (p.Ser1729Pro)
c.1951T>C (p.Ser651Pro)
c.1813T>C (p.Ser605Pro)
c.4375T>C (p.Ser1459Pro)
c.5140T>C (p.Ser1714Pro)
c.5329T>C (p.Ser1777Pro)
c.5122T>C (p.Ser1708Pro)
c.1825T>C (p.Ser609Pro)
c.5326T>C (p.Ser1776Pro)
c.1650T>C
c.1837T>C (p.Ser613Pro)
c.*5046T>C (n.*5046T>C)
c.193T>C (p.Ser65Pro)
c.736T>C (p.Ser246Pro)
c.-98-6876T>C (n.-98-6876T>C)
n.5399T>C
n.5440T>C
 ClinVar dbSNP
17g.43057066A>TCA10591030BRCA1c.5260T>A (p.Ser1754Thr)
c.5263T>A (p.Ser1755Thr)
c.5137T>A (p.Ser1713Thr)
c.5257T>A (p.Ser1753Thr)
c.5185T>A (p.Ser1729Thr)
c.1951T>A (p.Ser651Thr)
c.1813T>A (p.Ser605Thr)
c.4375T>A (p.Ser1459Thr)
c.5140T>A (p.Ser1714Thr)
c.5329T>A (p.Ser1777Thr)
c.5122T>A (p.Ser1708Thr)
c.1825T>A (p.Ser609Thr)
c.5326T>A (p.Ser1776Thr)
c.1650T>A
c.1837T>A (p.Ser613Thr)
c.*5046T>A (n.*5046T>A)
c.193T>A (p.Ser65Thr)
c.736T>A (p.Ser246Thr)
c.-98-6876T>A (n.-98-6876T>A)
n.5399T>A
n.5440T>A
 ClinVar dbSNP
17g.43057066_43057067insCCA500144543BRCA1c.5259_5260insG (p.Ser1754ValfsTer?)
c.5262_5263insG (p.Ser1755ValfsTer?)
c.5136_5137insG (p.Ser1713ValfsTer?)
c.5256_5257insG (p.Ser1753ValfsTer?)
c.5184_5185insG (p.Ser1729ValfsTer?)
c.1950_1951insG (p.Ser651ValfsTer?)
c.1812_1813insG (p.Ser605ValfsTer?)
c.4374_4375insG (p.Ser1459ValfsTer?)
c.5139_5140insG (p.Ser1714ValfsTer?)
c.5328_5329insG (p.Ser1777ValfsTer?)
c.5121_5122insG (p.Ser1708ValfsTer?)
c.1824_1825insG (p.Ser609ValfsTer?)
c.5325_5326insG (p.Ser1776ValfsTer?)
c.1649_1650insG
c.1836_1837insG (p.Ser613ValfsTer?)
c.*5045_*5046insG (n.*5045_*5046insG)
c.192_193insG (p.Ser65ValfsTer?)
c.735_736insG (p.Ser246ValfsTer?)
c.-98-6877_-98-6876insG (n.-98-6877_-98-6876insG)
n.5398_5399insG
n.5439_5440insG
17g.43057067T>ACA10591031BRCA1c.5259A>T (p.Glu1753Asp)
c.5262A>T (p.Glu1754Asp)
c.5136A>T (p.Glu1712Asp)
c.5256A>T (p.Glu1752Asp)
c.5184A>T (p.Glu1728Asp)
c.1950A>T (p.Glu650Asp)
c.1812A>T (p.Glu604Asp)
c.4374A>T (p.Glu1458Asp)
c.5139A>T (p.Glu1713Asp)
c.5328A>T (p.Glu1776Asp)
c.5121A>T (p.Glu1707Asp)
c.1824A>T (p.Glu608Asp)
c.5325A>T (p.Glu1775Asp)
c.1649A>T
c.1836A>T (p.Glu612Asp)
c.*5045A>T (n.*5045A>T)
c.192A>T (p.Glu64Asp)
c.735A>T (p.Glu245Asp)
c.-98-6877A>T (n.-98-6877A>T)
n.5398A>T
n.5439A>T
 ClinVar dbSNP
17g.43057067T>CCA500144546BRCA1c.5259A>G (p.Glu1753=)
c.5262A>G (p.Glu1754=)
c.5136A>G (p.Glu1712=)
c.5256A>G (p.Glu1752=)
c.5184A>G (p.Glu1728=)
c.1950A>G (p.Glu650=)
c.1812A>G (p.Glu604=)
c.4374A>G (p.Glu1458=)
c.5139A>G (p.Glu1713=)
c.5328A>G (p.Glu1776=)
c.5121A>G (p.Glu1707=)
c.1824A>G (p.Glu608=)
c.5325A>G (p.Glu1775=)
c.1649A>G
c.1836A>G (p.Glu612=)
c.*5045A>G (n.*5045A>G)
c.192A>G (p.Glu64=)
c.735A>G (p.Glu245=)
c.-98-6877A>G (n.-98-6877A>G)
n.5398A>G
n.5439A>G
 ClinVar dbSNP
17g.43057067T>GCA10591032BRCA1c.5259A>C (p.Glu1753Asp)
c.5262A>C (p.Glu1754Asp)
c.5136A>C (p.Glu1712Asp)
c.5256A>C (p.Glu1752Asp)
c.5184A>C (p.Glu1728Asp)
c.1950A>C (p.Glu650Asp)
c.1812A>C (p.Glu604Asp)
c.4374A>C (p.Glu1458Asp)
c.5139A>C (p.Glu1713Asp)
c.5328A>C (p.Glu1776Asp)
c.5121A>C (p.Glu1707Asp)
c.1824A>C (p.Glu608Asp)
c.5325A>C (p.Glu1775Asp)
c.1649A>C
c.1836A>C (p.Glu612Asp)
c.*5045A>C (n.*5045A>C)
c.192A>C (p.Glu64Asp)
c.735A>C (p.Glu245Asp)
c.-98-6877A>C (n.-98-6877A>C)
n.5398A>C
n.5439A>C
 ClinVar dbSNP
17g.43057067T=CA2260766378BRCA1c.5259A= (p.Glu1753=)
c.5262A= (p.Glu1754=)
c.5136A= (p.Glu1712=)
c.5256A= (p.Glu1752=)
c.5184A= (p.Glu1728=)
c.1950A= (p.Glu650=)
c.1812A= (p.Glu604=)
c.4374A= (p.Glu1458=)
c.5139A= (p.Glu1713=)
c.5328A= (p.Glu1776=)
c.5121A= (p.Glu1707=)
c.1824A= (p.Glu608=)
c.5325A= (p.Glu1775=)
c.1649A=
c.1836A= (p.Glu612=)
c.*5045A= (n.*5045A=)
c.192A= (p.Glu64=)
c.735A= (p.Glu245=)
c.-98-6877A= (n.-98-6877A=)
n.5398A=
n.5439A=
17g.43057068T>ACA10591033BRCA1c.5258A>T (p.Glu1753Val)
c.5261A>T (p.Glu1754Val)
c.5135A>T (p.Glu1712Val)
c.5255A>T (p.Glu1752Val)
c.5183A>T (p.Glu1728Val)
c.1949A>T (p.Glu650Val)
c.1811A>T (p.Glu604Val)
c.4373A>T (p.Glu1458Val)
c.5138A>T (p.Glu1713Val)
c.5327A>T (p.Glu1776Val)
c.5120A>T (p.Glu1707Val)
c.1823A>T (p.Glu608Val)
c.5324A>T (p.Glu1775Val)
c.1648A>T
c.1835A>T (p.Glu612Val)
c.*5044A>T (n.*5044A>T)
c.191A>T (p.Glu64Val)
c.734A>T (p.Glu245Val)
c.-98-6878A>T (n.-98-6878A>T)
n.5397A>T
n.5438A>T
 ClinVar dbSNP
17g.43057068T>CCA10591034BRCA1c.5258A>G (p.Glu1753Gly)
c.5261A>G (p.Glu1754Gly)
c.5135A>G (p.Glu1712Gly)
c.5255A>G (p.Glu1752Gly)
c.5183A>G (p.Glu1728Gly)
c.1949A>G (p.Glu650Gly)
c.1811A>G (p.Glu604Gly)
c.4373A>G (p.Glu1458Gly)
c.5138A>G (p.Glu1713Gly)
c.5327A>G (p.Glu1776Gly)
c.5120A>G (p.Glu1707Gly)
c.1823A>G (p.Glu608Gly)
c.5324A>G (p.Glu1775Gly)
c.1648A>G
c.1835A>G (p.Glu612Gly)
c.*5044A>G (n.*5044A>G)
c.191A>G (p.Glu64Gly)
c.734A>G (p.Glu245Gly)
c.-98-6878A>G (n.-98-6878A>G)
n.5397A>G
n.5438A>G
 ClinVar dbSNP
17g.43057068T>GCA10591035BRCA1c.5258A>C (p.Glu1753Ala)
c.5261A>C (p.Glu1754Ala)
c.5135A>C (p.Glu1712Ala)
c.5255A>C (p.Glu1752Ala)
c.5183A>C (p.Glu1728Ala)
c.1949A>C (p.Glu650Ala)
c.1811A>C (p.Glu604Ala)
c.4373A>C (p.Glu1458Ala)
c.5138A>C (p.Glu1713Ala)
c.5327A>C (p.Glu1776Ala)
c.5120A>C (p.Glu1707Ala)
c.1823A>C (p.Glu608Ala)
c.5324A>C (p.Glu1775Ala)
c.1648A>C
c.1835A>C (p.Glu612Ala)
c.*5044A>C (n.*5044A>C)
c.191A>C (p.Glu64Ala)
c.734A>C (p.Glu245Ala)
c.-98-6878A>C (n.-98-6878A>C)
n.5397A>C
n.5438A>C
 ClinVar dbSNP
17g.43057068T=CA2260766379BRCA1c.5258A= (p.Glu1753=)
c.5261A= (p.Glu1754=)
c.5135A= (p.Glu1712=)
c.5255A= (p.Glu1752=)
c.5183A= (p.Glu1728=)
c.1949A= (p.Glu650=)
c.1811A= (p.Glu604=)
c.4373A= (p.Glu1458=)
c.5138A= (p.Glu1713=)
c.5327A= (p.Glu1776=)
c.5120A= (p.Glu1707=)
c.1823A= (p.Glu608=)
c.5324A= (p.Glu1775=)
c.1648A=
c.1835A= (p.Glu612=)
c.*5044A= (n.*5044A=)
c.191A= (p.Glu64=)
c.734A= (p.Glu245=)
c.-98-6878A= (n.-98-6878A=)
n.5397A=
n.5438A=
17g.43057071_43057072delCA2580612669BRCA1c.5257_5258del (p.Glu1753IlefsTer?)
c.5260_5261del (p.Glu1754IlefsTer?)
c.5134_5135del (p.Glu1712IlefsTer?)
c.5254_5255del (p.Glu1752IlefsTer?)
c.5182_5183del (p.Glu1728IlefsTer?)
c.1948_1949del (p.Glu650IlefsTer?)
c.1810_1811del (p.Glu604IlefsTer?)
c.4372_4373del (p.Glu1458IlefsTer?)
c.5137_5138del (p.Glu1713IlefsTer?)
c.5326_5327del (p.Glu1776IlefsTer?)
c.5119_5120del (p.Glu1707IlefsTer?)
c.1822_1823del (p.Glu608IlefsTer?)
c.5323_5324del (p.Glu1775IlefsTer?)
c.1647_1648del
c.1834_1835del (p.Glu612IlefsTer?)
c.*5043_*5044del (n.*5043_*5044del)
c.190_191del (p.Glu64IlefsTer?)
c.733_734del (p.Glu245IlefsTer?)
c.-98-6879_-98-6878del (n.-98-6879_-98-6878del)
n.5396_5397del
n.5437_5438del
 ClinVar
17g.43057069C>ACA003403BRCA1c.5257G>T (p.Glu1753Ter)
c.5260G>T (p.Glu1754Ter)
c.5134G>T (p.Glu1712Ter)
c.5254G>T (p.Glu1752Ter)
c.5182G>T (p.Glu1728Ter)
c.1948G>T (p.Glu650Ter)
c.1810G>T (p.Glu604Ter)
c.4372G>T (p.Glu1458Ter)
c.5137G>T (p.Glu1713Ter)
c.5326G>T (p.Glu1776Ter)
c.5119G>T (p.Glu1707Ter)
c.1822G>T (p.Glu608Ter)
c.5323G>T (p.Glu1775Ter)
c.1647G>T
c.1834G>T (p.Glu612Ter)
c.*5043G>T (n.*5043G>T)
c.190G>T (p.Glu64Ter)
c.733G>T (p.Glu245Ter)
c.-98-6879G>T (n.-98-6879G>T)
n.5396G>T
n.5437G>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.43057069C=CA2260766380BRCA1c.5257G= (p.Glu1753=)
c.5260G= (p.Glu1754=)
c.5134G= (p.Glu1712=)
c.5254G= (p.Glu1752=)
c.5182G= (p.Glu1728=)
c.1948G= (p.Glu650=)
c.1810G= (p.Glu604=)
c.4372G= (p.Glu1458=)
c.5137G= (p.Glu1713=)
c.5326G= (p.Glu1776=)
c.5119G= (p.Glu1707=)
c.1822G= (p.Glu608=)
c.5323G= (p.Glu1775=)
c.1647G=
c.1834G= (p.Glu612=)
c.*5043G= (n.*5043G=)
c.190G= (p.Glu64=)
c.733G= (p.Glu245=)
c.-98-6879G= (n.-98-6879G=)
n.5396G=
n.5437G=
17g.43057069C>GCA054279BRCA1c.5257G>C (p.Glu1753Gln)
c.5260G>C (p.Glu1754Gln)
c.5134G>C (p.Glu1712Gln)
c.5254G>C (p.Glu1752Gln)
c.5182G>C (p.Glu1728Gln)
c.1948G>C (p.Glu650Gln)
c.1810G>C (p.Glu604Gln)
c.4372G>C (p.Glu1458Gln)
c.5137G>C (p.Glu1713Gln)
c.5326G>C (p.Glu1776Gln)
c.5119G>C (p.Glu1707Gln)
c.1822G>C (p.Glu608Gln)
c.5323G>C (p.Glu1775Gln)
c.1647G>C
c.1834G>C (p.Glu612Gln)
c.*5043G>C (n.*5043G>C)
c.190G>C (p.Glu64Gln)
c.733G>C (p.Glu245Gln)
c.-98-6879G>C (n.-98-6879G>C)
n.5396G>C
n.5437G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.43057069C>TCA003402BRCA1c.5257G>A (p.Glu1753Lys)
c.5260G>A (p.Glu1754Lys)
c.5134G>A (p.Glu1712Lys)
c.5254G>A (p.Glu1752Lys)
c.5182G>A (p.Glu1728Lys)
c.1948G>A (p.Glu650Lys)
c.1810G>A (p.Glu604Lys)
c.4372G>A (p.Glu1458Lys)
c.5137G>A (p.Glu1713Lys)
c.5326G>A (p.Glu1776Lys)
c.5119G>A (p.Glu1707Lys)
c.1822G>A (p.Glu608Lys)
c.5323G>A (p.Glu1775Lys)
c.1647G>A
c.1834G>A (p.Glu612Lys)
c.*5043G>A (n.*5043G>A)
c.190G>A (p.Glu64Lys)
c.733G>A (p.Glu245Lys)
c.-98-6879G>A (n.-98-6879G>A)
n.5396G>A
n.5437G>A
 ClinVar dbSNP
17g.43057069_43057070delinsCTCA2260766381BRCA1c.5256_5257delinsAG (p.Arg1752=)
c.5259_5260delinsAG (p.Arg1753=)
c.5133_5134delinsAG (p.Arg1711=)
c.5253_5254delinsAG (p.Arg1751=)
c.5181_5182delinsAG (p.Arg1727=)
c.1947_1948delinsAG (p.Arg649=)
c.1809_1810delinsAG (p.Arg603=)
c.4371_4372delinsAG (p.Arg1457=)
c.5136_5137delinsAG (p.Arg1712=)
c.5325_5326delinsAG (p.Arg1775=)
c.5118_5119delinsAG (p.Arg1706=)
c.1821_1822delinsAG (p.Arg607=)
c.5322_5323delinsAG (p.Arg1774=)
c.1646_1647delinsAG
c.1833_1834delinsAG (p.Arg611=)
c.*5042_*5043delinsAG (n.*5042_*5043delinsAG)
c.189_190delinsAG (p.Arg63=)
c.732_733delinsAG (p.Arg244=)
c.-98-6880_-98-6879delinsAG (n.-98-6880_-98-6879delinsAG)
n.5395_5396delinsAG
n.5436_5437delinsAG
17g.43057070delCA003400BRCA1c.5256del (p.Glu1753AsnfsTer11)
c.5259del (p.Glu1754AsnfsTer11)
c.5133del (p.Glu1712AsnfsTer11)
c.5253del (p.Glu1752AsnfsTer11)
c.5181del (p.Glu1728AsnfsTer11)
c.1947del (p.Glu650AsnfsTer11)
c.1809del (p.Glu604AsnfsTer11)
c.4371del (p.Glu1458AsnfsTer11)
c.5136del (p.Glu1713AsnfsTer11)
c.5325del (p.Glu1776AsnfsTer11)
c.5118del (p.Glu1707AsnfsTer11)
c.1821del (p.Glu608AsnfsTer11)
c.5322del (p.Glu1775AsnfsTer11)
c.1646del
c.1833del (p.Glu612AsnfsTer11)
c.*5042del (n.*5042del)
c.189del (p.Glu64AsnfsTer11)
c.732del (p.Glu245AsnfsTer11)
c.-98-6880del (n.-98-6880del)
n.5395del
n.5436del
 ClinVar dbSNP
17g.43057070T>ACA10591036BRCA1c.5256A>T (p.Arg1752Ser)
c.5259A>T (p.Arg1753Ser)
c.5133A>T (p.Arg1711Ser)
c.5253A>T (p.Arg1751Ser)
c.5181A>T (p.Arg1727Ser)
c.1947A>T (p.Arg649Ser)
c.1809A>T (p.Arg603Ser)
c.4371A>T (p.Arg1457Ser)
c.5136A>T (p.Arg1712Ser)
c.5325A>T (p.Arg1775Ser)
c.5118A>T (p.Arg1706Ser)
c.1821A>T (p.Arg607Ser)
c.5322A>T (p.Arg1774Ser)
c.1646A>T
c.1833A>T (p.Arg611Ser)
c.*5042A>T (n.*5042A>T)
c.189A>T (p.Arg63Ser)
c.732A>T (p.Arg244Ser)
c.-98-6880A>T (n.-98-6880A>T)
n.5395A>T
n.5436A>T
 ClinVar dbSNP
17g.43057070T>CCA003399BRCA1c.5256A>G (p.Arg1752=)
c.5259A>G (p.Arg1753=)
c.5133A>G (p.Arg1711=)
c.5253A>G (p.Arg1751=)
c.5181A>G (p.Arg1727=)
c.1947A>G (p.Arg649=)
c.1809A>G (p.Arg603=)
c.4371A>G (p.Arg1457=)
c.5136A>G (p.Arg1712=)
c.5325A>G (p.Arg1775=)
c.5118A>G (p.Arg1706=)
c.1821A>G (p.Arg607=)
c.5322A>G (p.Arg1774=)
c.1646A>G
c.1833A>G (p.Arg611=)
c.*5042A>G (n.*5042A>G)
c.189A>G (p.Arg63=)
c.732A>G (p.Arg244=)
c.-98-6880A>G (n.-98-6880A>G)
n.5395A>G
n.5436A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.43057070T>GCA10591037BRCA1c.5256A>C (p.Arg1752Ser)
c.5259A>C (p.Arg1753Ser)
c.5133A>C (p.Arg1711Ser)
c.5253A>C (p.Arg1751Ser)
c.5181A>C (p.Arg1727Ser)
c.1947A>C (p.Arg649Ser)
c.1809A>C (p.Arg603Ser)
c.4371A>C (p.Arg1457Ser)
c.5136A>C (p.Arg1712Ser)
c.5325A>C (p.Arg1775Ser)
c.5118A>C (p.Arg1706Ser)
c.1821A>C (p.Arg607Ser)
c.5322A>C (p.Arg1774Ser)
c.1646A>C
c.1833A>C (p.Arg611Ser)
c.*5042A>C (n.*5042A>C)
c.189A>C (p.Arg63Ser)
c.732A>C (p.Arg244Ser)
c.-98-6880A>C (n.-98-6880A>C)
n.5395A>C
n.5436A>C
 ClinVar dbSNP
17g.43057070T=CA2260766382BRCA1c.5256A= (p.Arg1752=)
c.5259A= (p.Arg1753=)
c.5133A= (p.Arg1711=)
c.5253A= (p.Arg1751=)
c.5181A= (p.Arg1727=)
c.1947A= (p.Arg649=)
c.1809A= (p.Arg603=)
c.4371A= (p.Arg1457=)
c.5136A= (p.Arg1712=)
c.5325A= (p.Arg1775=)
c.5118A= (p.Arg1706=)
c.1821A= (p.Arg607=)
c.5322A= (p.Arg1774=)
c.1646A=
c.1833A= (p.Arg611=)
c.*5042A= (n.*5042A=)
c.189A= (p.Arg63=)
c.732A= (p.Arg244=)
c.-98-6880A= (n.-98-6880A=)
n.5395A=
n.5436A=
17g.43057071C>ACA10591038BRCA1c.5255G>T (p.Arg1752Ile)
c.5258G>T (p.Arg1753Ile)
c.5132G>T (p.Arg1711Ile)
c.5252G>T (p.Arg1751Ile)
c.5180G>T (p.Arg1727Ile)
c.1946G>T (p.Arg649Ile)
c.1808G>T (p.Arg603Ile)
c.4370G>T (p.Arg1457Ile)
c.5135G>T (p.Arg1712Ile)
c.5324G>T (p.Arg1775Ile)
c.5117G>T (p.Arg1706Ile)
c.1820G>T (p.Arg607Ile)
c.5321G>T (p.Arg1774Ile)
c.1645G>T
c.1832G>T (p.Arg611Ile)
c.*5041G>T (n.*5041G>T)
c.188G>T (p.Arg63Ile)
c.731G>T (p.Arg244Ile)
c.-98-6881G>T (n.-98-6881G>T)
n.5394G>T
n.5435G>T
 ClinVar dbSNP
17g.43057071C=CA2260766383BRCA1c.5255G= (p.Arg1752=)
c.5258G= (p.Arg1753=)
c.5132G= (p.Arg1711=)
c.5252G= (p.Arg1751=)
c.5180G= (p.Arg1727=)
c.1946G= (p.Arg649=)
c.1808G= (p.Arg603=)
c.4370G= (p.Arg1457=)
c.5135G= (p.Arg1712=)
c.5324G= (p.Arg1775=)
c.5117G= (p.Arg1706=)
c.1820G= (p.Arg607=)
c.5321G= (p.Arg1774=)
c.1645G=
c.1832G= (p.Arg611=)
c.*5041G= (n.*5041G=)
c.188G= (p.Arg63=)
c.731G= (p.Arg244=)
c.-98-6881G= (n.-98-6881G=)
n.5394G=
n.5435G=
17g.43057071C>GCA003398BRCA1c.5255G>C (p.Arg1752Thr)
c.5258G>C (p.Arg1753Thr)
c.5132G>C (p.Arg1711Thr)
c.5252G>C (p.Arg1751Thr)
c.5180G>C (p.Arg1727Thr)
c.1946G>C (p.Arg649Thr)
c.1808G>C (p.Arg603Thr)
c.4370G>C (p.Arg1457Thr)
c.5135G>C (p.Arg1712Thr)
c.5324G>C (p.Arg1775Thr)
c.5117G>C (p.Arg1706Thr)
c.1820G>C (p.Arg607Thr)
c.5321G>C (p.Arg1774Thr)
c.1645G>C
c.1832G>C (p.Arg611Thr)
c.*5041G>C (n.*5041G>C)
c.188G>C (p.Arg63Thr)
c.731G>C (p.Arg244Thr)
c.-98-6881G>C (n.-98-6881G>C)
n.5394G>C
n.5435G>C
 ClinVar dbSNP
17g.43057071C>TCA003397BRCA1c.5255G>A (p.Arg1752Lys)
c.5258G>A (p.Arg1753Lys)
c.5132G>A (p.Arg1711Lys)
c.5252G>A (p.Arg1751Lys)
c.5180G>A (p.Arg1727Lys)
c.1946G>A (p.Arg649Lys)
c.1808G>A (p.Arg603Lys)
c.4370G>A (p.Arg1457Lys)
c.5135G>A (p.Arg1712Lys)
c.5324G>A (p.Arg1775Lys)
c.5117G>A (p.Arg1706Lys)
c.1820G>A (p.Arg607Lys)
c.5321G>A (p.Arg1774Lys)
c.1645G>A
c.1832G>A (p.Arg611Lys)
c.*5041G>A (n.*5041G>A)
c.188G>A (p.Arg63Lys)
c.731G>A (p.Arg244Lys)
c.-98-6881G>A (n.-98-6881G>A)
n.5394G>A
n.5435G>A
 ClinVar dbSNP COSMIC COSMIC
17g.43057072T>ACA10591039BRCA1c.5254A>T (p.Arg1752Ter)
c.5257A>T (p.Arg1753Ter)
c.5131A>T (p.Arg1711Ter)
c.5251A>T (p.Arg1751Ter)
c.5179A>T (p.Arg1727Ter)
c.1945A>T (p.Arg649Ter)
c.1807A>T (p.Arg603Ter)
c.4369A>T (p.Arg1457Ter)
c.5134A>T (p.Arg1712Ter)
c.5323A>T (p.Arg1775Ter)
c.5116A>T (p.Arg1706Ter)
c.1819A>T (p.Arg607Ter)
c.5320A>T (p.Arg1774Ter)
c.1644A>T
c.1831A>T (p.Arg611Ter)
c.*5040A>T (n.*5040A>T)
c.187A>T (p.Arg63Ter)
c.730A>T (p.Arg244Ter)
c.-98-6882A>T (n.-98-6882A>T)
n.5393A>T
n.5434A>T
 ClinVar dbSNP
17g.43057072T>CCA10591040BRCA1c.5254A>G (p.Arg1752Gly)
c.5257A>G (p.Arg1753Gly)
c.5131A>G (p.Arg1711Gly)
c.5251A>G (p.Arg1751Gly)
c.5179A>G (p.Arg1727Gly)
c.1945A>G (p.Arg649Gly)
c.1807A>G (p.Arg603Gly)
c.4369A>G (p.Arg1457Gly)
c.5134A>G (p.Arg1712Gly)
c.5323A>G (p.Arg1775Gly)
c.5116A>G (p.Arg1706Gly)
c.1819A>G (p.Arg607Gly)
c.5320A>G (p.Arg1774Gly)
c.1644A>G
c.1831A>G (p.Arg611Gly)
c.*5040A>G (n.*5040A>G)
c.187A>G (p.Arg63Gly)
c.730A>G (p.Arg244Gly)
c.-98-6882A>G (n.-98-6882A>G)
n.5393A>G
n.5434A>G
 ClinVar dbSNP
17g.43057072T>GCA500144577BRCA1c.5254A>C (p.Arg1752=)
c.5257A>C (p.Arg1753=)
c.5131A>C (p.Arg1711=)
c.5251A>C (p.Arg1751=)
c.5179A>C (p.Arg1727=)
c.1945A>C (p.Arg649=)
c.1807A>C (p.Arg603=)
c.4369A>C (p.Arg1457=)
c.5134A>C (p.Arg1712=)
c.5323A>C (p.Arg1775=)
c.5116A>C (p.Arg1706=)
c.1819A>C (p.Arg607=)
c.5320A>C (p.Arg1774=)
c.1644A>C
c.1831A>C (p.Arg611=)
c.*5040A>C (n.*5040A>C)
c.187A>C (p.Arg63=)
c.730A>C (p.Arg244=)
c.-98-6882A>C (n.-98-6882A>C)
n.5393A>C
n.5434A>C
 ClinVar dbSNP gnomAD v4
17g.43057072T=CA2260766384BRCA1c.5254A= (p.Arg1752=)
c.5257A= (p.Arg1753=)
c.5131A= (p.Arg1711=)
c.5251A= (p.Arg1751=)
c.5179A= (p.Arg1727=)
c.1945A= (p.Arg649=)
c.1807A= (p.Arg603=)
c.4369A= (p.Arg1457=)
c.5134A= (p.Arg1712=)
c.5323A= (p.Arg1775=)
c.5116A= (p.Arg1706=)
c.1819A= (p.Arg607=)
c.5320A= (p.Arg1774=)
c.1644A=
c.1831A= (p.Arg611=)
c.*5040A= (n.*5040A=)
c.187A= (p.Arg63=)
c.730A= (p.Arg244=)
c.-98-6882A= (n.-98-6882A=)
n.5393A=
n.5434A=
17g.43057073dupCA327987BRCA1c.5254dup (p.Arg1752LysfsTer?)
c.5257dup (p.Arg1753LysfsTer?)
c.5131dup (p.Arg1711LysfsTer?)
c.5251dup (p.Arg1751LysfsTer?)
c.5179dup (p.Arg1727LysfsTer?)
c.1945dup (p.Arg649LysfsTer?)
c.1807dup (p.Arg603LysfsTer?)
c.4369dup (p.Arg1457LysfsTer?)
c.5134dup (p.Arg1712LysfsTer?)
c.5323dup (p.Arg1775LysfsTer?)
c.5116dup (p.Arg1706LysfsTer?)
c.1819dup (p.Arg607LysfsTer?)
c.5320dup (p.Arg1774LysfsTer?)
c.1644dup
c.1831dup (p.Arg611LysfsTer?)
c.*5040dup (n.*5040dup)
c.187dup (p.Arg63LysfsTer?)
c.730dup (p.Arg244LysfsTer?)
c.-98-6882dup (n.-98-6882dup)
n.5393dup
n.5434dup
 ClinVar dbSNP
17g.43057073T>ACA500144582BRCA1c.5253A>T (p.Ala1751=)
c.5256A>T (p.Ala1752=)
c.5130A>T (p.Ala1710=)
c.5250A>T (p.Ala1750=)
c.5178A>T (p.Ala1726=)
c.1944A>T (p.Ala648=)
c.1806A>T (p.Ala602=)
c.4368A>T (p.Ala1456=)
c.5133A>T (p.Ala1711=)
c.5322A>T (p.Ala1774=)
c.5115A>T (p.Ala1705=)
c.1818A>T (p.Ala606=)
c.5319A>T (p.Ala1773=)
c.1643A>T
c.1830A>T (p.Ala610=)
c.*5039A>T (n.*5039A>T)
c.186A>T (p.Ala62=)
c.729A>T (p.Ala243=)
c.-98-6883A>T (n.-98-6883A>T)
n.5392A>T
n.5433A>T
 ClinVar dbSNP
17g.43057073T>CCA500144584BRCA1c.5253A>G (p.Ala1751=)
c.5256A>G (p.Ala1752=)
c.5130A>G (p.Ala1710=)
c.5250A>G (p.Ala1750=)
c.5178A>G (p.Ala1726=)
c.1944A>G (p.Ala648=)
c.1806A>G (p.Ala602=)
c.4368A>G (p.Ala1456=)
c.5133A>G (p.Ala1711=)
c.5322A>G (p.Ala1774=)
c.5115A>G (p.Ala1705=)
c.1818A>G (p.Ala606=)
c.5319A>G (p.Ala1773=)
c.1643A>G
c.1830A>G (p.Ala610=)
c.*5039A>G (n.*5039A>G)
c.186A>G (p.Ala62=)
c.729A>G (p.Ala243=)
c.-98-6883A>G (n.-98-6883A>G)
n.5392A>G
n.5433A>G
 ClinVar dbSNP
17g.43057073T>GCA003396BRCA1c.5253A>C (p.Ala1751=)
c.5256A>C (p.Ala1752=)
c.5130A>C (p.Ala1710=)
c.5250A>C (p.Ala1750=)
c.5178A>C (p.Ala1726=)
c.1944A>C (p.Ala648=)
c.1806A>C (p.Ala602=)
c.4368A>C (p.Ala1456=)
c.5133A>C (p.Ala1711=)
c.5322A>C (p.Ala1774=)
c.5115A>C (p.Ala1705=)
c.1818A>C (p.Ala606=)
c.5319A>C (p.Ala1773=)
c.1643A>C
c.1830A>C (p.Ala610=)
c.*5039A>C (n.*5039A>C)
c.186A>C (p.Ala62=)
c.729A>C (p.Ala243=)
c.-98-6883A>C (n.-98-6883A>C)
n.5392A>C
n.5433A>C
 ClinVar dbSNP
17g.43057073T=CA2260766386BRCA1c.5253A= (p.Ala1751=)
c.5256A= (p.Ala1752=)
c.5130A= (p.Ala1710=)
c.5250A= (p.Ala1750=)
c.5178A= (p.Ala1726=)
c.1944A= (p.Ala648=)
c.1806A= (p.Ala602=)
c.4368A= (p.Ala1456=)
c.5133A= (p.Ala1711=)
c.5322A= (p.Ala1774=)
c.5115A= (p.Ala1705=)
c.1818A= (p.Ala606=)
c.5319A= (p.Ala1773=)
c.1643A=
c.1830A= (p.Ala610=)
c.*5039A= (n.*5039A=)
c.186A= (p.Ala62=)
c.729A= (p.Ala243=)
c.-98-6883A= (n.-98-6883A=)
n.5392A=
n.5433A=
17g.43057073_43057074delinsTGCA2260766385BRCA1c.5252_5253delinsCA (p.Ala1751=)
c.5255_5256delinsCA (p.Ala1752=)
c.5129_5130delinsCA (p.Ala1710=)
c.5249_5250delinsCA (p.Ala1750=)
c.5177_5178delinsCA (p.Ala1726=)
c.1943_1944delinsCA (p.Ala648=)
c.1805_1806delinsCA (p.Ala602=)
c.4367_4368delinsCA (p.Ala1456=)
c.5132_5133delinsCA (p.Ala1711=)
c.5321_5322delinsCA (p.Ala1774=)
c.5114_5115delinsCA (p.Ala1705=)
c.1817_1818delinsCA (p.Ala606=)
c.5318_5319delinsCA (p.Ala1773=)
c.1642_1643delinsCA
c.1829_1830delinsCA (p.Ala610=)
c.*5038_*5039delinsCA (n.*5038_*5039delinsCA)
c.185_186delinsCA (p.Ala62=)
c.728_729delinsCA (p.Ala243=)
c.-98-6884_-98-6883delinsCA (n.-98-6884_-98-6883delinsCA)
n.5391_5392delinsCA
n.5432_5433delinsCA
17g.43057074delCA919844321BRCA1c.5252del (p.Ala1751GlufsTer13)
c.5255del (p.Ala1752GlufsTer13)
c.5129del (p.Ala1710GlufsTer13)
c.5249del (p.Ala1750GlufsTer13)
c.5177del (p.Ala1726GlufsTer13)
c.1943del (p.Ala648GlufsTer13)
c.1805del (p.Ala602GlufsTer13)
c.4367del (p.Ala1456GlufsTer13)
c.5132del (p.Ala1711GlufsTer13)
c.5321del (p.Ala1774GlufsTer13)
c.5114del (p.Ala1705GlufsTer13)
c.1817del (p.Ala606GlufsTer13)
c.5318del (p.Ala1773GlufsTer13)
c.1642del
c.1829del (p.Ala610GlufsTer13)
c.*5038del (n.*5038del)
c.185del (p.Ala62GlufsTer13)
c.728del (p.Ala243GlufsTer13)
c.-98-6884del (n.-98-6884del)
n.5391del
n.5432del
 dbSNP
17g.43057074G>ACA003395BRCA1c.5252C>T (p.Ala1751Val)
c.5255C>T (p.Ala1752Val)
c.5129C>T (p.Ala1710Val)
c.5249C>T (p.Ala1750Val)
c.5177C>T (p.Ala1726Val)
c.1943C>T (p.Ala648Val)
c.1805C>T (p.Ala602Val)
c.4367C>T (p.Ala1456Val)
c.5132C>T (p.Ala1711Val)
c.5321C>T (p.Ala1774Val)
c.5114C>T (p.Ala1705Val)
c.1817C>T (p.Ala606Val)
c.5318C>T (p.Ala1773Val)
c.1642C>T
c.1829C>T (p.Ala610Val)
c.*5038C>T (n.*5038C>T)
c.185C>T (p.Ala62Val)
c.728C>T (p.Ala243Val)
c.-98-6884C>T (n.-98-6884C>T)
n.5391C>T
n.5432C>T
 ClinVar dbSNP
17g.43057074G>CCA10591041BRCA1c.5252C>G (p.Ala1751Gly)
c.5255C>G (p.Ala1752Gly)
c.5129C>G (p.Ala1710Gly)
c.5249C>G (p.Ala1750Gly)
c.5177C>G (p.Ala1726Gly)
c.1943C>G (p.Ala648Gly)
c.1805C>G (p.Ala602Gly)
c.4367C>G (p.Ala1456Gly)
c.5132C>G (p.Ala1711Gly)
c.5321C>G (p.Ala1774Gly)
c.5114C>G (p.Ala1705Gly)
c.1817C>G (p.Ala606Gly)
c.5318C>G (p.Ala1773Gly)
c.1642C>G
c.1829C>G (p.Ala610Gly)
c.*5038C>G (n.*5038C>G)
c.185C>G (p.Ala62Gly)
c.728C>G (p.Ala243Gly)
c.-98-6884C>G (n.-98-6884C>G)
n.5391C>G
n.5432C>G
 ClinVar dbSNP gnomAD v4
17g.43057074G=CA2260766387BRCA1c.5252C= (p.Ala1751=)
c.5255C= (p.Ala1752=)
c.5129C= (p.Ala1710=)
c.5249C= (p.Ala1750=)
c.5177C= (p.Ala1726=)
c.1943C= (p.Ala648=)
c.1805C= (p.Ala602=)
c.4367C= (p.Ala1456=)
c.5132C= (p.Ala1711=)
c.5321C= (p.Ala1774=)
c.5114C= (p.Ala1705=)
c.1817C= (p.Ala606=)
c.5318C= (p.Ala1773=)
c.1642C=
c.1829C= (p.Ala610=)
c.*5038C= (n.*5038C=)
c.185C= (p.Ala62=)
c.728C= (p.Ala243=)
c.-98-6884C= (n.-98-6884C=)
n.5391C=
n.5432C=
17g.43057074G>TCA10591042BRCA1c.5252C>A (p.Ala1751Glu)
c.5255C>A (p.Ala1752Glu)
c.5129C>A (p.Ala1710Glu)
c.5249C>A (p.Ala1750Glu)
c.5177C>A (p.Ala1726Glu)
c.1943C>A (p.Ala648Glu)
c.1805C>A (p.Ala602Glu)
c.4367C>A (p.Ala1456Glu)
c.5132C>A (p.Ala1711Glu)
c.5321C>A (p.Ala1774Glu)
c.5114C>A (p.Ala1705Glu)
c.1817C>A (p.Ala606Glu)
c.5318C>A (p.Ala1773Glu)
c.1642C>A
c.1829C>A (p.Ala610Glu)
c.*5038C>A (n.*5038C>A)
c.185C>A (p.Ala62Glu)
c.728C>A (p.Ala243Glu)
c.-98-6884C>A (n.-98-6884C>A)
n.5391C>A
n.5432C>A
 ClinVar dbSNP
17g.43057074dupCA2499224368BRCA1c.5252dup (p.Arg1752LysfsTer?)
c.5255dup (p.Arg1753LysfsTer?)
c.5129dup (p.Arg1711LysfsTer?)
c.5249dup (p.Arg1751LysfsTer?)
c.5177dup (p.Arg1727LysfsTer?)
c.1943dup (p.Arg649LysfsTer?)
c.1805dup (p.Arg603LysfsTer?)
c.4367dup (p.Arg1457LysfsTer?)
c.5132dup (p.Arg1712LysfsTer?)
c.5321dup (p.Arg1775LysfsTer?)
c.5114dup (p.Arg1706LysfsTer?)
c.1817dup (p.Arg607LysfsTer?)
c.5318dup (p.Arg1774LysfsTer?)
c.1642dup
c.1829dup (p.Arg611LysfsTer?)
c.*5038dup (n.*5038dup)
c.185dup (p.Arg63LysfsTer?)
c.728dup (p.Arg244LysfsTer?)
c.-98-6884dup (n.-98-6884dup)
n.5391dup
n.5432dup
17g.43057075C>ACA10591043BRCA1c.5251G>T (p.Ala1751Ser)
c.5254G>T (p.Ala1752Ser)
c.5128G>T (p.Ala1710Ser)
c.5248G>T (p.Ala1750Ser)
c.5176G>T (p.Ala1726Ser)
c.1942G>T (p.Ala648Ser)
c.1804G>T (p.Ala602Ser)
c.4366G>T (p.Ala1456Ser)
c.5131G>T (p.Ala1711Ser)
c.5320G>T (p.Ala1774Ser)
c.5113G>T (p.Ala1705Ser)
c.1816G>T (p.Ala606Ser)
c.5317G>T (p.Ala1773Ser)
c.1641G>T
c.1828G>T (p.Ala610Ser)
c.*5037G>T (n.*5037G>T)
c.184G>T (p.Ala62Ser)
c.727G>T (p.Ala243Ser)
c.-98-6885G>T (n.-98-6885G>T)
n.5390G>T
n.5431G>T
 ClinVar dbSNP
17g.43057075C=CA2260766388BRCA1c.5251G= (p.Ala1751=)
c.5254G= (p.Ala1752=)
c.5128G= (p.Ala1710=)
c.5248G= (p.Ala1750=)
c.5176G= (p.Ala1726=)
c.1942G= (p.Ala648=)
c.1804G= (p.Ala602=)
c.4366G= (p.Ala1456=)
c.5131G= (p.Ala1711=)
c.5320G= (p.Ala1774=)
c.5113G= (p.Ala1705=)
c.1816G= (p.Ala606=)
c.5317G= (p.Ala1773=)
c.1641G=
c.1828G= (p.Ala610=)
c.*5037G= (n.*5037G=)
c.184G= (p.Ala62=)
c.727G= (p.Ala243=)
c.-98-6885G= (n.-98-6885G=)
n.5390G=
n.5431G=
17g.43057075C>GCA003394BRCA1c.5251G>C (p.Ala1751Pro)
c.5254G>C (p.Ala1752Pro)
c.5128G>C (p.Ala1710Pro)
c.5248G>C (p.Ala1750Pro)
c.5176G>C (p.Ala1726Pro)
c.1942G>C (p.Ala648Pro)
c.1804G>C (p.Ala602Pro)
c.4366G>C (p.Ala1456Pro)
c.5131G>C (p.Ala1711Pro)
c.5320G>C (p.Ala1774Pro)
c.5113G>C (p.Ala1705Pro)
c.1816G>C (p.Ala606Pro)
c.5317G>C (p.Ala1773Pro)
c.1641G>C
c.1828G>C (p.Ala610Pro)
c.*5037G>C (n.*5037G>C)
c.184G>C (p.Ala62Pro)
c.727G>C (p.Ala243Pro)
c.-98-6885G>C (n.-98-6885G>C)
n.5390G>C
n.5431G>C
 ClinVar dbSNP
17g.43057075C>TCA003393BRCA1c.5251G>A (p.Ala1751Thr)
c.5254G>A (p.Ala1752Thr)
c.5128G>A (p.Ala1710Thr)
c.5248G>A (p.Ala1750Thr)
c.5176G>A (p.Ala1726Thr)
c.1942G>A (p.Ala648Thr)
c.1804G>A (p.Ala602Thr)
c.4366G>A (p.Ala1456Thr)
c.5131G>A (p.Ala1711Thr)
c.5320G>A (p.Ala1774Thr)
c.5113G>A (p.Ala1705Thr)
c.1816G>A (p.Ala606Thr)
c.5317G>A (p.Ala1773Thr)
c.1641G>A
c.1828G>A (p.Ala610Thr)
c.*5037G>A (n.*5037G>A)
c.184G>A (p.Ala62Thr)
c.727G>A (p.Ala243Thr)
c.-98-6885G>A (n.-98-6885G>A)
n.5390G>A
n.5431G>A
 ClinVar dbSNP
17g.43057076T>ACA500144599BRCA1c.5250A>T (p.Arg1750=)
c.5253A>T (p.Arg1751=)
c.5127A>T (p.Arg1709=)
c.5247A>T (p.Arg1749=)
c.5175A>T (p.Arg1725=)
c.1941A>T (p.Arg647=)
c.1803A>T (p.Arg601=)
c.4365A>T (p.Arg1455=)
c.5130A>T (p.Arg1710=)
c.5319A>T (p.Arg1773=)
c.5112A>T (p.Arg1704=)
c.1815A>T (p.Arg605=)
c.5316A>T (p.Arg1772=)
c.1640A>T
c.1827A>T (p.Arg609=)
c.*5036A>T (n.*5036A>T)
c.183A>T (p.Arg61=)
c.726A>T (p.Arg242=)
c.-98-6886A>T (n.-98-6886A>T)
n.5389A>T
n.5430A>T
 ClinVar dbSNP
17g.43057076T>CCA500144601BRCA1c.5250A>G (p.Arg1750=)
c.5253A>G (p.Arg1751=)
c.5127A>G (p.Arg1709=)
c.5247A>G (p.Arg1749=)
c.5175A>G (p.Arg1725=)
c.1941A>G (p.Arg647=)
c.1803A>G (p.Arg601=)
c.4365A>G (p.Arg1455=)
c.5130A>G (p.Arg1710=)
c.5319A>G (p.Arg1773=)
c.5112A>G (p.Arg1704=)
c.1815A>G (p.Arg605=)
c.5316A>G (p.Arg1772=)
c.1640A>G
c.1827A>G (p.Arg609=)
c.*5036A>G (n.*5036A>G)
c.183A>G (p.Arg61=)
c.726A>G (p.Arg242=)
c.-98-6886A>G (n.-98-6886A>G)
n.5389A>G
n.5430A>G
 ClinVar dbSNP
17g.43057076T>GCA500144603BRCA1c.5250A>C (p.Arg1750=)
c.5253A>C (p.Arg1751=)
c.5127A>C (p.Arg1709=)
c.5247A>C (p.Arg1749=)
c.5175A>C (p.Arg1725=)
c.1941A>C (p.Arg647=)
c.1803A>C (p.Arg601=)
c.4365A>C (p.Arg1455=)
c.5130A>C (p.Arg1710=)
c.5319A>C (p.Arg1773=)
c.5112A>C (p.Arg1704=)
c.1815A>C (p.Arg605=)
c.5316A>C (p.Arg1772=)
c.1640A>C
c.1827A>C (p.Arg609=)
c.*5036A>C (n.*5036A>C)
c.183A>C (p.Arg61=)
c.726A>C (p.Arg242=)
c.-98-6886A>C (n.-98-6886A>C)
n.5389A>C
n.5430A>C
 ClinVar dbSNP
17g.43057076T=CA2260766389BRCA1c.5250A= (p.Arg1750=)
c.5253A= (p.Arg1751=)
c.5127A= (p.Arg1709=)
c.5247A= (p.Arg1749=)
c.5175A= (p.Arg1725=)
c.1941A= (p.Arg647=)
c.1803A= (p.Arg601=)
c.4365A= (p.Arg1455=)
c.5130A= (p.Arg1710=)
c.5319A= (p.Arg1773=)
c.5112A= (p.Arg1704=)
c.1815A= (p.Arg605=)
c.5316A= (p.Arg1772=)
c.1640A=
c.1827A= (p.Arg609=)
c.*5036A= (n.*5036A=)
c.183A= (p.Arg61=)
c.726A= (p.Arg242=)
c.-98-6886A= (n.-98-6886A=)
n.5389A=
n.5430A=
17g.43057077C>ACA10591044BRCA1c.5249G>T (p.Arg1750Leu)
c.5252G>T (p.Arg1751Leu)
c.5126G>T (p.Arg1709Leu)
c.5246G>T (p.Arg1749Leu)
c.5174G>T (p.Arg1725Leu)
c.1940G>T (p.Arg647Leu)
c.1802G>T (p.Arg601Leu)
c.4364G>T (p.Arg1455Leu)
c.5129G>T (p.Arg1710Leu)
c.5318G>T (p.Arg1773Leu)
c.5111G>T (p.Arg1704Leu)
c.1814G>T (p.Arg605Leu)
c.5315G>T (p.Arg1772Leu)
c.1639G>T
c.1826G>T (p.Arg609Leu)
c.*5035G>T (n.*5035G>T)
c.182G>T (p.Arg61Leu)
c.725G>T (p.Arg242Leu)
c.-98-6887G>T (n.-98-6887G>T)
n.5388G>T
n.5429G>T
 ClinVar dbSNP
17g.43057077C=CA2260766390BRCA1c.5249G= (p.Arg1750=)
c.5252G= (p.Arg1751=)
c.5126G= (p.Arg1709=)
c.5246G= (p.Arg1749=)
c.5174G= (p.Arg1725=)
c.1940G= (p.Arg647=)
c.1802G= (p.Arg601=)
c.4364G= (p.Arg1455=)
c.5129G= (p.Arg1710=)
c.5318G= (p.Arg1773=)
c.5111G= (p.Arg1704=)
c.1814G= (p.Arg605=)
c.5315G= (p.Arg1772=)
c.1639G=
c.1826G= (p.Arg609=)
c.*5035G= (n.*5035G=)
c.182G= (p.Arg61=)
c.725G= (p.Arg242=)
c.-98-6887G= (n.-98-6887G=)
n.5388G=
n.5429G=
17g.43057077C>GCA003392BRCA1c.5249G>C (p.Arg1750Pro)
c.5252G>C (p.Arg1751Pro)
c.5126G>C (p.Arg1709Pro)
c.5246G>C (p.Arg1749Pro)
c.5174G>C (p.Arg1725Pro)
c.1940G>C (p.Arg647Pro)
c.1802G>C (p.Arg601Pro)
c.4364G>C (p.Arg1455Pro)
c.5129G>C (p.Arg1710Pro)
c.5318G>C (p.Arg1773Pro)
c.5111G>C (p.Arg1704Pro)
c.1814G>C (p.Arg605Pro)
c.5315G>C (p.Arg1772Pro)
c.1639G>C
c.1826G>C (p.Arg609Pro)
c.*5035G>C (n.*5035G>C)
c.182G>C (p.Arg61Pro)
c.725G>C (p.Arg242Pro)
c.-98-6887G>C (n.-98-6887G>C)
n.5388G>C
n.5429G>C
 ClinVar dbSNP
17g.43057077C>TCA003390BRCA1c.5249G>A (p.Arg1750Gln)
c.5252G>A (p.Arg1751Gln)
c.5126G>A (p.Arg1709Gln)
c.5246G>A (p.Arg1749Gln)
c.5174G>A (p.Arg1725Gln)
c.1940G>A (p.Arg647Gln)
c.1802G>A (p.Arg601Gln)
c.4364G>A (p.Arg1455Gln)
c.5129G>A (p.Arg1710Gln)
c.5318G>A (p.Arg1773Gln)
c.5111G>A (p.Arg1704Gln)
c.1814G>A (p.Arg605Gln)
c.5315G>A (p.Arg1772Gln)
c.1639G>A
c.1826G>A (p.Arg609Gln)
c.*5035G>A (n.*5035G>A)
c.182G>A (p.Arg61Gln)
c.725G>A (p.Arg242Gln)
c.-98-6887G>A (n.-98-6887G>A)
n.5388G>A
n.5429G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.43057077_43057093delinsCGCTTTGGACCTTGGTGCA2260766391BRCA1c.5233_5249delinsCACCAAGGTCCAAAGCG (p.His1745=)
c.5236_5252delinsCACCAAGGTCCAAAGCG (p.His1746=)
c.5110_5126delinsCACCAAGGTCCAAAGCG (p.His1704=)
c.5230_5246delinsCACCAAGGTCCAAAGCG (p.His1744=)
c.5158_5174delinsCACCAAGGTCCAAAGCG (p.His1720=)
c.1924_1940delinsCACCAAGGTCCAAAGCG (p.His642=)
c.1786_1802delinsCACCAAGGTCCAAAGCG (p.His596=)
c.4348_4364delinsCACCAAGGTCCAAAGCG (p.His1450=)
c.5113_5129delinsCACCAAGGTCCAAAGCG (p.His1705=)
c.5302_5318delinsCACCAAGGTCCAAAGCG (p.His1768=)
c.5095_5111delinsCACCAAGGTCCAAAGCG (p.His1699=)
c.1798_1814delinsCACCAAGGTCCAAAGCG (p.His600=)
c.5299_5315delinsCACCAAGGTCCAAAGCG (p.His1767=)
c.1623_1639delinsCACCAAGGTCCAAAGCG
c.1810_1826delinsCACCAAGGTCCAAAGCG (p.His604=)
c.*5019_*5035delinsCACCAAGGTCCAAAGCG (n.*5019_*5035delinsCACCAAGGTCCAAAGCG)
c.166_182delinsCACCAAGGTCCAAAGCG (p.His56=)
c.709_725delinsCACCAAGGTCCAAAGCG (p.His237=)
c.-98-6903_-98-6887delinsCACCAAGGTCCAAAGCG (n.-98-6903_-98-6887delinsCACCAAGGTCCAAAGCG)
n.5372_5388delinsCACCAAGGTCCAAAGCG
n.5413_5429delinsCACCAAGGTCCAAAGCG
17g.43057078G>ACA003389BRCA1c.5248C>T (p.Arg1750Ter)
c.5251C>T (p.Arg1751Ter)
c.5125C>T (p.Arg1709Ter)
c.5245C>T (p.Arg1749Ter)
c.5173C>T (p.Arg1725Ter)
c.1939C>T (p.Arg647Ter)
c.1801C>T (p.Arg601Ter)
c.4363C>T (p.Arg1455Ter)
c.5128C>T (p.Arg1710Ter)
c.5317C>T (p.Arg1773Ter)
c.5110C>T (p.Arg1704Ter)
c.1813C>T (p.Arg605Ter)
c.5314C>T (p.Arg1772Ter)
c.1638C>T
c.1825C>T (p.Arg609Ter)
c.*5034C>T (n.*5034C>T)
c.181C>T (p.Arg61Ter)
c.724C>T (p.Arg242Ter)
c.-98-6888C>T (n.-98-6888C>T)
n.5387C>T
n.5428C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
17g.43057078G>CCA10591045BRCA1c.5248C>G (p.Arg1750Gly)
c.5251C>G (p.Arg1751Gly)
c.5125C>G (p.Arg1709Gly)
c.5245C>G (p.Arg1749Gly)
c.5173C>G (p.Arg1725Gly)
c.1939C>G (p.Arg647Gly)
c.1801C>G (p.Arg601Gly)
c.4363C>G (p.Arg1455Gly)
c.5128C>G (p.Arg1710Gly)
c.5317C>G (p.Arg1773Gly)
c.5110C>G (p.Arg1704Gly)
c.1813C>G (p.Arg605Gly)
c.5314C>G (p.Arg1772Gly)
c.1638C>G
c.1825C>G (p.Arg609Gly)
c.*5034C>G (n.*5034C>G)
c.181C>G (p.Arg61Gly)
c.724C>G (p.Arg242Gly)
c.-98-6888C>G (n.-98-6888C>G)
n.5387C>G
n.5428C>G
 ClinVar dbSNP
17g.43057078G=CA2260766393BRCA1c.5248C= (p.Arg1750=)
c.5251C= (p.Arg1751=)
c.5125C= (p.Arg1709=)
c.5245C= (p.Arg1749=)
c.5173C= (p.Arg1725=)
c.1939C= (p.Arg647=)
c.1801C= (p.Arg601=)
c.4363C= (p.Arg1455=)
c.5128C= (p.Arg1710=)
c.5317C= (p.Arg1773=)
c.5110C= (p.Arg1704=)
c.1813C= (p.Arg605=)
c.5314C= (p.Arg1772=)
c.1638C=
c.1825C= (p.Arg609=)
c.*5034C= (n.*5034C=)
c.181C= (p.Arg61=)
c.724C= (p.Arg242=)
c.-98-6888C= (n.-98-6888C=)
n.5387C=
n.5428C=
17g.43057078G>TCA290823416BRCA1c.5248C>A (p.Arg1750=)
c.5251C>A (p.Arg1751=)
c.5125C>A (p.Arg1709=)
c.5245C>A (p.Arg1749=)
c.5173C>A (p.Arg1725=)
c.1939C>A (p.Arg647=)
c.1801C>A (p.Arg601=)
c.4363C>A (p.Arg1455=)
c.5128C>A (p.Arg1710=)
c.5317C>A (p.Arg1773=)
c.5110C>A (p.Arg1704=)
c.1813C>A (p.Arg605=)
c.5314C>A (p.Arg1772=)
c.1638C>A
c.1825C>A (p.Arg609=)
c.*5034C>A (n.*5034C>A)
c.181C>A (p.Arg61=)
c.724C>A (p.Arg242=)
c.-98-6888C>A (n.-98-6888C>A)
n.5387C>A
n.5428C>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.43057078_43057079delinsGCCA2260766392BRCA1c.5247_5248delinsGC (p.Lys1749=)
c.5250_5251delinsGC (p.Lys1750=)
c.5124_5125delinsGC (p.Lys1708=)
c.5244_5245delinsGC (p.Lys1748=)
c.5172_5173delinsGC (p.Lys1724=)
c.1938_1939delinsGC (p.Lys646=)
c.1800_1801delinsGC (p.Lys600=)
c.4362_4363delinsGC (p.Lys1454=)
c.5127_5128delinsGC (p.Lys1709=)
c.5316_5317delinsGC (p.Lys1772=)
c.5109_5110delinsGC (p.Lys1703=)
c.1812_1813delinsGC (p.Lys604=)
c.5313_5314delinsGC (p.Lys1771=)
c.1637_1638delinsGC
c.1824_1825delinsGC (p.Lys608=)
c.*5033_*5034delinsGC (n.*5033_*5034delinsGC)
c.180_181delinsGC (p.Lys60=)
c.723_724delinsGC (p.Lys241=)
c.-98-6889_-98-6888delinsGC (n.-98-6889_-98-6888delinsGC)
n.5386_5387delinsGC
n.5427_5428delinsGC
17g.43057079_43057094delCA1139665562BRCA1c.5233_5248del (p.His1745GlufsTer14)
c.5236_5251del (p.His1746GlufsTer14)
c.5110_5125del (p.His1704GlufsTer14)
c.5230_5245del (p.His1744GlufsTer14)
c.5158_5173del (p.His1720GlufsTer14)
c.1924_1939del (p.His642GlufsTer14)
c.1786_1801del (p.His596GlufsTer14)
c.4348_4363del (p.His1450GlufsTer14)
c.5113_5128del (p.His1705GlufsTer14)
c.5302_5317del (p.His1768GlufsTer14)
c.5095_5110del (p.His1699GlufsTer14)
c.1798_1813del (p.His600GlufsTer14)
c.5299_5314del (p.His1767GlufsTer14)
c.1623_1638del
c.1810_1825del (p.His604GlufsTer14)
c.*5019_*5034del (n.*5019_*5034del)
c.166_181del (p.His56GlufsTer14)
c.709_724del (p.His237GlufsTer14)
c.-98-6903_-98-6888del (n.-98-6903_-98-6888del)
n.5372_5387del
n.5413_5428del
 ClinVar dbSNP
17g.43057079delCA658656659BRCA1c.5247del (p.Lys1749AsnfsTer15)
c.5250del (p.Lys1750AsnfsTer15)
c.5124del (p.Lys1708AsnfsTer15)
c.5244del (p.Lys1748AsnfsTer15)
c.5172del (p.Lys1724AsnfsTer15)
c.1938del (p.Lys646AsnfsTer15)
c.1800del (p.Lys600AsnfsTer15)
c.4362del (p.Lys1454AsnfsTer15)
c.5127del (p.Lys1709AsnfsTer15)
c.5316del (p.Lys1772AsnfsTer15)
c.5109del (p.Lys1703AsnfsTer15)
c.1812del (p.Lys604AsnfsTer15)
c.5313del (p.Lys1771AsnfsTer15)
c.1637del
c.1824del (p.Lys608AsnfsTer15)
c.*5033del (n.*5033del)
c.180del (p.Lys60AsnfsTer15)
c.723del (p.Lys241AsnfsTer15)
c.-98-6889del (n.-98-6889del)
n.5386del
n.5427del
 ClinVar dbSNP
17g.43057079C>ACA10591046BRCA1c.5247G>T (p.Lys1749Asn)
c.5250G>T (p.Lys1750Asn)
c.5124G>T (p.Lys1708Asn)
c.5244G>T (p.Lys1748Asn)
c.5172G>T (p.Lys1724Asn)
c.1938G>T (p.Lys646Asn)
c.1800G>T (p.Lys600Asn)
c.4362G>T (p.Lys1454Asn)
c.5127G>T (p.Lys1709Asn)
c.5316G>T (p.Lys1772Asn)
c.5109G>T (p.Lys1703Asn)
c.1812G>T (p.Lys604Asn)
c.5313G>T (p.Lys1771Asn)
c.1637G>T
c.1824G>T (p.Lys608Asn)
c.*5033G>T (n.*5033G>T)
c.180G>T (p.Lys60Asn)
c.723G>T (p.Lys241Asn)
c.-98-6889G>T (n.-98-6889G>T)
n.5386G>T
n.5427G>T
 ClinVar dbSNP
17g.43057079C=CA2260766395BRCA1c.5247G= (p.Lys1749=)
c.5250G= (p.Lys1750=)
c.5124G= (p.Lys1708=)
c.5244G= (p.Lys1748=)
c.5172G= (p.Lys1724=)
c.1938G= (p.Lys646=)
c.1800G= (p.Lys600=)
c.4362G= (p.Lys1454=)
c.5127G= (p.Lys1709=)
c.5316G= (p.Lys1772=)
c.5109G= (p.Lys1703=)
c.1812G= (p.Lys604=)
c.5313G= (p.Lys1771=)
c.1637G=
c.1824G= (p.Lys608=)
c.*5033G= (n.*5033G=)
c.180G= (p.Lys60=)
c.723G= (p.Lys241=)
c.-98-6889G= (n.-98-6889G=)
n.5386G=
n.5427G=
17g.43057079C>GCA10591047BRCA1c.5247G>C (p.Lys1749Asn)
c.5250G>C (p.Lys1750Asn)
c.5124G>C (p.Lys1708Asn)
c.5244G>C (p.Lys1748Asn)
c.5172G>C (p.Lys1724Asn)
c.1938G>C (p.Lys646Asn)
c.1800G>C (p.Lys600Asn)
c.4362G>C (p.Lys1454Asn)
c.5127G>C (p.Lys1709Asn)
c.5316G>C (p.Lys1772Asn)
c.5109G>C (p.Lys1703Asn)
c.1812G>C (p.Lys604Asn)
c.5313G>C (p.Lys1771Asn)
c.1637G>C
c.1824G>C (p.Lys608Asn)
c.*5033G>C (n.*5033G>C)
c.180G>C (p.Lys60Asn)
c.723G>C (p.Lys241Asn)
c.-98-6889G>C (n.-98-6889G>C)
n.5386G>C
n.5427G>C
 ClinVar dbSNP
17g.43057079C>TCA500144617BRCA1c.5247G>A (p.Lys1749=)
c.5250G>A (p.Lys1750=)
c.5124G>A (p.Lys1708=)
c.5244G>A (p.Lys1748=)
c.5172G>A (p.Lys1724=)
c.1938G>A (p.Lys646=)
c.1800G>A (p.Lys600=)
c.4362G>A (p.Lys1454=)
c.5127G>A (p.Lys1709=)
c.5316G>A (p.Lys1772=)
c.5109G>A (p.Lys1703=)
c.1812G>A (p.Lys604=)
c.5313G>A (p.Lys1771=)
c.1637G>A
c.1824G>A (p.Lys608=)
c.*5033G>A (n.*5033G>A)
c.180G>A (p.Lys60=)
c.723G>A (p.Lys241=)
c.-98-6889G>A (n.-98-6889G>A)
n.5386G>A
n.5427G>A
 ClinVar dbSNP
17g.43057079_43057080delinsCTCA2260766394BRCA1c.5246_5247delinsAG (p.Lys1749=)
c.5249_5250delinsAG (p.Lys1750=)
c.5123_5124delinsAG (p.Lys1708=)
c.5243_5244delinsAG (p.Lys1748=)
c.5171_5172delinsAG (p.Lys1724=)
c.1937_1938delinsAG (p.Lys646=)
c.1799_1800delinsAG (p.Lys600=)
c.4361_4362delinsAG (p.Lys1454=)
c.5126_5127delinsAG (p.Lys1709=)
c.5315_5316delinsAG (p.Lys1772=)
c.5108_5109delinsAG (p.Lys1703=)
c.1811_1812delinsAG (p.Lys604=)
c.5312_5313delinsAG (p.Lys1771=)
c.1636_1637delinsAG
c.1823_1824delinsAG (p.Lys608=)
c.*5032_*5033delinsAG (n.*5032_*5033delinsAG)
c.179_180delinsAG (p.Lys60=)
c.722_723delinsAG (p.Lys241=)
c.-98-6890_-98-6889delinsAG (n.-98-6890_-98-6889delinsAG)
n.5385_5386delinsAG
n.5426_5427delinsAG
17g.43057080T>ACA10591048BRCA1c.5246A>T (p.Lys1749Met)
c.5249A>T (p.Lys1750Met)
c.5123A>T (p.Lys1708Met)
c.5243A>T (p.Lys1748Met)
c.5171A>T (p.Lys1724Met)
c.1937A>T (p.Lys646Met)
c.1799A>T (p.Lys600Met)
c.4361A>T (p.Lys1454Met)
c.5126A>T (p.Lys1709Met)
c.5315A>T (p.Lys1772Met)
c.5108A>T (p.Lys1703Met)
c.1811A>T (p.Lys604Met)
c.5312A>T (p.Lys1771Met)
c.1636A>T
c.1823A>T (p.Lys608Met)
c.*5032A>T (n.*5032A>T)
c.179A>T (p.Lys60Met)
c.722A>T (p.Lys241Met)
c.-98-6890A>T (n.-98-6890A>T)
n.5385A>T
n.5426A>T
 ClinVar dbSNP
17g.43057080T>CCA10591049BRCA1c.5246A>G (p.Lys1749Arg)
c.5249A>G (p.Lys1750Arg)
c.5123A>G (p.Lys1708Arg)
c.5243A>G (p.Lys1748Arg)
c.5171A>G (p.Lys1724Arg)
c.1937A>G (p.Lys646Arg)
c.1799A>G (p.Lys600Arg)
c.4361A>G (p.Lys1454Arg)
c.5126A>G (p.Lys1709Arg)
c.5315A>G (p.Lys1772Arg)
c.5108A>G (p.Lys1703Arg)
c.1811A>G (p.Lys604Arg)
c.5312A>G (p.Lys1771Arg)
c.1636A>G
c.1823A>G (p.Lys608Arg)
c.*5032A>G (n.*5032A>G)
c.179A>G (p.Lys60Arg)
c.722A>G (p.Lys241Arg)
c.-98-6890A>G (n.-98-6890A>G)
n.5385A>G
n.5426A>G
 ClinVar dbSNP gnomAD v4
17g.43057080T>GCA10591050BRCA1c.5246A>C (p.Lys1749Thr)
c.5249A>C (p.Lys1750Thr)
c.5123A>C (p.Lys1708Thr)
c.5243A>C (p.Lys1748Thr)
c.5171A>C (p.Lys1724Thr)
c.1937A>C (p.Lys646Thr)
c.1799A>C (p.Lys600Thr)
c.4361A>C (p.Lys1454Thr)
c.5126A>C (p.Lys1709Thr)
c.5315A>C (p.Lys1772Thr)
c.5108A>C (p.Lys1703Thr)
c.1811A>C (p.Lys604Thr)
c.5312A>C (p.Lys1771Thr)
c.1636A>C
c.1823A>C (p.Lys608Thr)
c.*5032A>C (n.*5032A>C)
c.179A>C (p.Lys60Thr)
c.722A>C (p.Lys241Thr)
c.-98-6890A>C (n.-98-6890A>C)
n.5385A>C
n.5426A>C
 ClinVar dbSNP
17g.43057080T=CA2260766397BRCA1c.5246A= (p.Lys1749=)
c.5249A= (p.Lys1750=)
c.5123A= (p.Lys1708=)
c.5243A= (p.Lys1748=)
c.5171A= (p.Lys1724=)
c.1937A= (p.Lys646=)
c.1799A= (p.Lys600=)
c.4361A= (p.Lys1454=)
c.5126A= (p.Lys1709=)
c.5315A= (p.Lys1772=)
c.5108A= (p.Lys1703=)
c.1811A= (p.Lys604=)
c.5312A= (p.Lys1771=)
c.1636A=
c.1823A= (p.Lys608=)
c.*5032A= (n.*5032A=)
c.179A= (p.Lys60=)
c.722A= (p.Lys241=)
c.-98-6890A= (n.-98-6890A=)
n.5385A=
n.5426A=
17g.43057082dupCA645373152BRCA1c.5246dup (p.Arg1750AlafsTer?)
c.5249dup (p.Arg1751AlafsTer?)
c.5123dup (p.Arg1709AlafsTer?)
c.5243dup (p.Arg1749AlafsTer?)
c.5171dup (p.Arg1725AlafsTer?)
c.1937dup (p.Arg647AlafsTer?)
c.1799dup (p.Arg601AlafsTer?)
c.4361dup (p.Arg1455AlafsTer?)
c.5126dup (p.Arg1710AlafsTer?)
c.5315dup (p.Arg1773AlafsTer?)
c.5108dup (p.Arg1704AlafsTer?)
c.1811dup (p.Arg605AlafsTer?)
c.5312dup (p.Arg1772AlafsTer?)
c.1636dup
c.1823dup (p.Arg609AlafsTer?)
c.*5032dup (n.*5032dup)
c.179dup (p.Arg61AlafsTer?)
c.722dup (p.Arg242AlafsTer?)
c.-98-6890dup (n.-98-6890dup)
n.5385dup
n.5426dup
 ClinVar dbSNP
17g.43057082delCA10584547BRCA1c.5246del (p.Lys1749SerfsTer15)
c.5249del (p.Lys1750SerfsTer15)
c.5123del (p.Lys1708SerfsTer15)
c.5243del (p.Lys1748SerfsTer15)
c.5171del (p.Lys1724SerfsTer15)
c.1937del (p.Lys646SerfsTer15)
c.1799del (p.Lys600SerfsTer15)
c.4361del (p.Lys1454SerfsTer15)
c.5126del (p.Lys1709SerfsTer15)
c.5315del (p.Lys1772SerfsTer15)
c.5108del (p.Lys1703SerfsTer15)
c.1811del (p.Lys604SerfsTer15)
c.5312del (p.Lys1771SerfsTer15)
c.1636del
c.1823del (p.Lys608SerfsTer15)
c.*5032del (n.*5032del)
c.179del (p.Lys60SerfsTer15)
c.722del (p.Lys241SerfsTer15)
c.-98-6890del (n.-98-6890del)
n.5385del
n.5426del
 ClinVar dbSNP
17g.43057080_43057120delinsTTTGGACCTTGGTGGTTTCTTCCATTGACCACATCTCCTCTCA2260766396BRCA1c.5206_5246delinsAGAGGAGATGTGGTCAATGGAAGAAACCACCAAGGTCCAAA (p.Arg1736=)
c.5209_5249delinsAGAGGAGATGTGGTCAATGGAAGAAACCACCAAGGTCCAAA (p.Arg1737=)
c.5083_5123delinsAGAGGAGATGTGGTCAATGGAAGAAACCACCAAGGTCCAAA (p.Arg1695=)
c.5203_5243delinsAGAGGAGATGTGGTCAATGGAAGAAACCACCAAGGTCCAAA (p.Arg1735=)
c.5131_5171delinsAGAGGAGATGTGGTCAATGGAAGAAACCACCAAGGTCCAAA (p.Arg1711=)
c.1897_1937delinsAGAGGAGATGTGGTCAATGGAAGAAACCACCAAGGTCCAAA (p.Arg633=)
c.1759_1799delinsAGAGGAGATGTGGTCAATGGAAGAAACCACCAAGGTCCAAA (p.Arg587=)
c.4321_4361delinsAGAGGAGATGTGGTCAATGGAAGAAACCACCAAGGTCCAAA (p.Arg1441=)
c.5086_5126delinsAGAGGAGATGTGGTCAATGGAAGAAACCACCAAGGTCCAAA (p.Arg1696=)
c.5275_5315delinsAGAGGAGATGTGGTCAATGGAAGAAACCACCAAGGTCCAAA (p.Arg1759=)
c.5068_5108delinsAGAGGAGATGTGGTCAATGGAAGAAACCACCAAGGTCCAAA (p.Arg1690=)
c.1771_1811delinsAGAGGAGATGTGGTCAATGGAAGAAACCACCAAGGTCCAAA (p.Arg591=)
c.5272_5312delinsAGAGGAGATGTGGTCAATGGAAGAAACCACCAAGGTCCAAA (p.Arg1758=)
c.1596_1636delinsAGAGGAGATGTGGTCAATGGAAGAAACCACCAAGGTCCAAA
c.1783_1823delinsAGAGGAGATGTGGTCAATGGAAGAAACCACCAAGGTCCAAA (p.Arg595=)
c.*4992_*5032delinsAGAGGAGATGTGGTCAATGGAAGAAACCACCAAGGTCCAAA (n.*4992_*5032delinsAGAGGAGATGTGGTCAATGGAAGAAACCACCAAGGTCCAAA)
c.139_179delinsAGAGGAGATGTGGTCAATGGAAGAAACCACCAAGGTCCAAA (p.Arg47=)
c.682_722delinsAGAGGAGATGTGGTCAATGGAAGAAACCACCAAGGTCCAAA (p.Arg228=)
c.-98-6930_-98-6890delinsAGAGGAGATGTGGTCAATGGAAGAAACCACCAAGGTCCAAA (n.-98-6930_-98-6890delinsAGAGGAGATGTGGTCAATGGAAGAAACCACCAAGGTCCAAA)
n.5345_5385delinsAGAGGAGATGTGGTCAATGGAAGAAACCACCAAGGTCCAAA
n.5386_5426delinsAGAGGAGATGTGGTCAATGGAAGAAACCACCAAGGTCCAAA
17g.43057080_43057081insGACA658824712BRCA1c.5245_5246insTC (p.Lys1749IlefsTer16)
c.5248_5249insTC (p.Lys1750IlefsTer16)
c.5122_5123insTC (p.Lys1708IlefsTer16)
c.5242_5243insTC (p.Lys1748IlefsTer16)
c.5170_5171insTC (p.Lys1724IlefsTer16)
c.1936_1937insTC (p.Lys646IlefsTer16)
c.1798_1799insTC (p.Lys600IlefsTer16)
c.4360_4361insTC (p.Lys1454IlefsTer16)
c.5125_5126insTC (p.Lys1709IlefsTer16)
c.5314_5315insTC (p.Lys1772IlefsTer16)
c.5107_5108insTC (p.Lys1703IlefsTer16)
c.1810_1811insTC (p.Lys604IlefsTer16)
c.5311_5312insTC (p.Lys1771IlefsTer16)
c.1635_1636insTC
c.1822_1823insTC (p.Lys608IlefsTer16)
c.*5031_*5032insTC (n.*5031_*5032insTC)
c.178_179insTC (p.Lys60IlefsTer16)
c.721_722insTC (p.Lys241IlefsTer16)
c.-98-6891_-98-6890insTC (n.-98-6891_-98-6890insTC)
n.5384_5385insTC
n.5425_5426insTC
 ClinVar dbSNP
17g.43057081T>ACA10591051BRCA1c.5245A>T (p.Lys1749Ter)
c.5248A>T (p.Lys1750Ter)
c.5122A>T (p.Lys1708Ter)
c.5242A>T (p.Lys1748Ter)
c.5170A>T (p.Lys1724Ter)
c.1936A>T (p.Lys646Ter)
c.1798A>T (p.Lys600Ter)
c.4360A>T (p.Lys1454Ter)
c.5125A>T (p.Lys1709Ter)
c.5314A>T (p.Lys1772Ter)
c.5107A>T (p.Lys1703Ter)
c.1810A>T (p.Lys604Ter)
c.5311A>T (p.Lys1771Ter)
c.1635A>T
c.1822A>T (p.Lys608Ter)
c.*5031A>T (n.*5031A>T)
c.178A>T (p.Lys60Ter)
c.721A>T (p.Lys241Ter)
c.-98-6891A>T (n.-98-6891A>T)
n.5384A>T
n.5425A>T
 ClinVar dbSNP
17g.43057081T>CCA10591052BRCA1c.5245A>G (p.Lys1749Glu)
c.5248A>G (p.Lys1750Glu)
c.5122A>G (p.Lys1708Glu)
c.5242A>G (p.Lys1748Glu)
c.5170A>G (p.Lys1724Glu)
c.1936A>G (p.Lys646Glu)
c.1798A>G (p.Lys600Glu)
c.4360A>G (p.Lys1454Glu)
c.5125A>G (p.Lys1709Glu)
c.5314A>G (p.Lys1772Glu)
c.5107A>G (p.Lys1703Glu)
c.1810A>G (p.Lys604Glu)
c.5311A>G (p.Lys1771Glu)
c.1635A>G
c.1822A>G (p.Lys608Glu)
c.*5031A>G (n.*5031A>G)
c.178A>G (p.Lys60Glu)
c.721A>G (p.Lys241Glu)
c.-98-6891A>G (n.-98-6891A>G)
n.5384A>G
n.5425A>G
 ClinVar dbSNP
17g.43057081T>GCA10591053BRCA1c.5245A>C (p.Lys1749Gln)
c.5248A>C (p.Lys1750Gln)
c.5122A>C (p.Lys1708Gln)
c.5242A>C (p.Lys1748Gln)
c.5170A>C (p.Lys1724Gln)
c.1936A>C (p.Lys646Gln)
c.1798A>C (p.Lys600Gln)
c.4360A>C (p.Lys1454Gln)
c.5125A>C (p.Lys1709Gln)
c.5314A>C (p.Lys1772Gln)
c.5107A>C (p.Lys1703Gln)
c.1810A>C (p.Lys604Gln)
c.5311A>C (p.Lys1771Gln)
c.1635A>C
c.1822A>C (p.Lys608Gln)
c.*5031A>C (n.*5031A>C)
c.178A>C (p.Lys60Gln)
c.721A>C (p.Lys241Gln)
c.-98-6891A>C (n.-98-6891A>C)
n.5384A>C
n.5425A>C
 ClinVar dbSNP
17g.43057081T=CA2260766398BRCA1c.5245A= (p.Lys1749=)
c.5248A= (p.Lys1750=)
c.5122A= (p.Lys1708=)
c.5242A= (p.Lys1748=)
c.5170A= (p.Lys1724=)
c.1936A= (p.Lys646=)
c.1798A= (p.Lys600=)
c.4360A= (p.Lys1454=)
c.5125A= (p.Lys1709=)
c.5314A= (p.Lys1772=)
c.5107A= (p.Lys1703=)
c.1810A= (p.Lys604=)
c.5311A= (p.Lys1771=)
c.1635A=
c.1822A= (p.Lys608=)
c.*5031A= (n.*5031A=)
c.178A= (p.Lys60=)
c.721A= (p.Lys241=)
c.-98-6891A= (n.-98-6891A=)
n.5384A=
n.5425A=
17g.43057081_43057083delCA2740089958BRCA1c.5243_5245del (p.Pro1748_Lys1749delinsGln)
c.5246_5248del (p.Pro1749_Lys1750delinsGln)
c.5120_5122del (p.Pro1707_Lys1708delinsGln)
c.5240_5242del (p.Pro1747_Lys1748delinsGln)
c.5168_5170del (p.Pro1723_Lys1724delinsGln)
c.1934_1936del (p.Pro645_Lys646delinsGln)
c.1796_1798del (p.Pro599_Lys600delinsGln)
c.4358_4360del (p.Pro1453_Lys1454delinsGln)
c.5123_5125del (p.Pro1708_Lys1709delinsGln)
c.5312_5314del (p.Pro1771_Lys1772delinsGln)
c.5105_5107del (p.Pro1702_Lys1703delinsGln)
c.1808_1810del (p.Pro603_Lys604delinsGln)
c.5309_5311del (p.Pro1770_Lys1771delinsGln)
c.1633_1635del
c.1820_1822del (p.Pro607_Lys608delinsGln)
c.*5029_*5031del (n.*5029_*5031del)
c.176_178del (p.Pro59_Lys60delinsGln)
c.719_721del (p.Pro240_Lys241delinsGln)
c.-98-6893_-98-6891del (n.-98-6893_-98-6891del)
n.5382_5384del
n.5423_5425del
17g.43057081_43057120delinsGACA003359BRCA1c.5206_5245delinsTC (p.Arg1736SerfsTer?)
c.5209_5248delinsTC (p.Arg1737SerfsTer?)
c.5083_5122delinsTC (p.Arg1695SerfsTer?)
c.5203_5242delinsTC (p.Arg1735SerfsTer?)
c.5131_5170delinsTC (p.Arg1711SerfsTer?)
c.1897_1936delinsTC (p.Arg633SerfsTer?)
c.1759_1798delinsTC (p.Arg587SerfsTer?)
c.4321_4360delinsTC (p.Arg1441SerfsTer?)
c.5086_5125delinsTC (p.Arg1696SerfsTer?)
c.5275_5314delinsTC (p.Arg1759SerfsTer?)
c.5068_5107delinsTC (p.Arg1690SerfsTer?)
c.1771_1810delinsTC (p.Arg591SerfsTer?)
c.5272_5311delinsTC (p.Arg1758SerfsTer?)
c.1596_1635delinsTC
c.1783_1822delinsTC (p.Arg595SerfsTer?)
c.*4992_*5031delinsTC (n.*4992_*5031delinsTC)
c.139_178delinsTC (p.Arg47SerfsTer?)
c.682_721delinsTC (p.Arg228SerfsTer?)
c.-98-6930_-98-6891delinsTC (n.-98-6930_-98-6891delinsTC)
n.5345_5384delinsTC
n.5386_5425delinsTC
 ClinVar dbSNP
17g.43057081_43057121delinsTTGGACCTTGGTGGTTTCTTCCATTGACCACATCTCCTCTGCA2260766399BRCA1c.5205_5245delinsCAGAGGAGATGTGGTCAATGGAAGAAACCACCAAGGTCCAA (p.Val1735=)
c.5208_5248delinsCAGAGGAGATGTGGTCAATGGAAGAAACCACCAAGGTCCAA (p.Val1736=)
c.5082_5122delinsCAGAGGAGATGTGGTCAATGGAAGAAACCACCAAGGTCCAA (p.Val1694=)
c.5202_5242delinsCAGAGGAGATGTGGTCAATGGAAGAAACCACCAAGGTCCAA (p.Val1734=)
c.5130_5170delinsCAGAGGAGATGTGGTCAATGGAAGAAACCACCAAGGTCCAA (p.Val1710=)
c.1896_1936delinsCAGAGGAGATGTGGTCAATGGAAGAAACCACCAAGGTCCAA (p.Val632=)
c.1758_1798delinsCAGAGGAGATGTGGTCAATGGAAGAAACCACCAAGGTCCAA (p.Val586=)
c.4320_4360delinsCAGAGGAGATGTGGTCAATGGAAGAAACCACCAAGGTCCAA (p.Val1440=)
c.5085_5125delinsCAGAGGAGATGTGGTCAATGGAAGAAACCACCAAGGTCCAA (p.Val1695=)
c.5274_5314delinsCAGAGGAGATGTGGTCAATGGAAGAAACCACCAAGGTCCAA (p.Val1758=)
c.5067_5107delinsCAGAGGAGATGTGGTCAATGGAAGAAACCACCAAGGTCCAA (p.Val1689=)
c.1770_1810delinsCAGAGGAGATGTGGTCAATGGAAGAAACCACCAAGGTCCAA (p.Val590=)
c.5271_5311delinsCAGAGGAGATGTGGTCAATGGAAGAAACCACCAAGGTCCAA (p.Val1757=)
c.1595_1635delinsCAGAGGAGATGTGGTCAATGGAAGAAACCACCAAGGTCCAA
c.1782_1822delinsCAGAGGAGATGTGGTCAATGGAAGAAACCACCAAGGTCCAA (p.Val594=)
c.*4991_*5031delinsCAGAGGAGATGTGGTCAATGGAAGAAACCACCAAGGTCCAA (n.*4991_*5031delinsCAGAGGAGATGTGGTCAATGGAAGAAACCACCAAGGTCCAA)
c.138_178delinsCAGAGGAGATGTGGTCAATGGAAGAAACCACCAAGGTCCAA (p.Val46=)
c.681_721delinsCAGAGGAGATGTGGTCAATGGAAGAAACCACCAAGGTCCAA (p.Val227=)
c.-98-6931_-98-6891delinsCAGAGGAGATGTGGTCAATGGAAGAAACCACCAAGGTCCAA (n.-98-6931_-98-6891delinsCAGAGGAGATGTGGTCAATGGAAGAAACCACCAAGGTCCAA)
n.5344_5384delinsCAGAGGAGATGTGGTCAATGGAAGAAACCACCAAGGTCCAA
n.5385_5425delinsCAGAGGAGATGTGGTCAATGGAAGAAACCACCAAGGTCCAA
17g.43057081_43057082insACA658761203BRCA1c.5244_5245insT (p.Lys1749Ter)
c.5247_5248insT (p.Lys1750Ter)
c.5121_5122insT (p.Lys1708Ter)
c.5241_5242insT (p.Lys1748Ter)
c.5169_5170insT (p.Lys1724Ter)
c.1935_1936insT (p.Lys646Ter)
c.1797_1798insT (p.Lys600Ter)
c.4359_4360insT (p.Lys1454Ter)
c.5124_5125insT (p.Lys1709Ter)
c.5313_5314insT (p.Lys1772Ter)
c.5106_5107insT (p.Lys1703Ter)
c.1809_1810insT (p.Lys604Ter)
c.5310_5311insT (p.Lys1771Ter)
c.1634_1635insT
c.1821_1822insT (p.Lys608Ter)
c.*5030_*5031insT (n.*5030_*5031insT)
c.177_178insT (p.Lys60Ter)
c.720_721insT (p.Lys241Ter)
c.-98-6892_-98-6891insT (n.-98-6892_-98-6891insT)
n.5383_5384insT
n.5424_5425insT
17g.43057081_43057082insGACA658824713BRCA1c.5244_5245insTC (p.Lys1749SerfsTer16)
c.5247_5248insTC (p.Lys1750SerfsTer16)
c.5121_5122insTC (p.Lys1708SerfsTer16)
c.5241_5242insTC (p.Lys1748SerfsTer16)
c.5169_5170insTC (p.Lys1724SerfsTer16)
c.1935_1936insTC (p.Lys646SerfsTer16)
c.1797_1798insTC (p.Lys600SerfsTer16)
c.4359_4360insTC (p.Lys1454SerfsTer16)
c.5124_5125insTC (p.Lys1709SerfsTer16)
c.5313_5314insTC (p.Lys1772SerfsTer16)
c.5106_5107insTC (p.Lys1703SerfsTer16)
c.1809_1810insTC (p.Lys604SerfsTer16)
c.5310_5311insTC (p.Lys1771SerfsTer16)
c.1634_1635insTC
c.1821_1822insTC (p.Lys608SerfsTer16)
c.*5030_*5031insTC (n.*5030_*5031insTC)
c.177_178insTC (p.Lys60SerfsTer16)
c.720_721insTC (p.Lys241SerfsTer16)
c.-98-6892_-98-6891insTC (n.-98-6892_-98-6891insTC)
n.5383_5384insTC
n.5424_5425insTC
 ClinVar dbSNP
17g.43057082T>ACA500144631BRCA1c.5244A>T (p.Pro1748=)
c.5247A>T (p.Pro1749=)
c.5121A>T (p.Pro1707=)
c.5241A>T (p.Pro1747=)
c.5169A>T (p.Pro1723=)
c.1935A>T (p.Pro645=)
c.1797A>T (p.Pro599=)
c.4359A>T (p.Pro1453=)
c.5124A>T (p.Pro1708=)
c.5313A>T (p.Pro1771=)
c.5106A>T (p.Pro1702=)
c.1809A>T (p.Pro603=)
c.5310A>T (p.Pro1770=)
c.1634A>T
c.1821A>T (p.Pro607=)
c.*5030A>T (n.*5030A>T)
c.177A>T (p.Pro59=)
c.720A>T (p.Pro240=)
c.-98-6892A>T (n.-98-6892A>T)
n.5383A>T
n.5424A>T
 ClinVar dbSNP
17g.43057082T>CCA500144637BRCA1c.5244A>G (p.Pro1748=)
c.5247A>G (p.Pro1749=)
c.5121A>G (p.Pro1707=)
c.5241A>G (p.Pro1747=)
c.5169A>G (p.Pro1723=)
c.1935A>G (p.Pro645=)
c.1797A>G (p.Pro599=)
c.4359A>G (p.Pro1453=)
c.5124A>G (p.Pro1708=)
c.5313A>G (p.Pro1771=)
c.5106A>G (p.Pro1702=)
c.1809A>G (p.Pro603=)
c.5310A>G (p.Pro1770=)
c.1634A>G
c.1821A>G (p.Pro607=)
c.*5030A>G (n.*5030A>G)
c.177A>G (p.Pro59=)
c.720A>G (p.Pro240=)
c.-98-6892A>G (n.-98-6892A>G)
n.5383A>G
n.5424A>G
 ClinVar dbSNP
17g.43057082T>GCA500144633BRCA1c.5244A>C (p.Pro1748=)
c.5247A>C (p.Pro1749=)
c.5121A>C (p.Pro1707=)
c.5241A>C (p.Pro1747=)
c.5169A>C (p.Pro1723=)
c.1935A>C (p.Pro645=)
c.1797A>C (p.Pro599=)
c.4359A>C (p.Pro1453=)
c.5124A>C (p.Pro1708=)
c.5313A>C (p.Pro1771=)
c.5106A>C (p.Pro1702=)
c.1809A>C (p.Pro603=)
c.5310A>C (p.Pro1770=)
c.1634A>C
c.1821A>C (p.Pro607=)
c.*5030A>C (n.*5030A>C)
c.177A>C (p.Pro59=)
c.720A>C (p.Pro240=)
c.-98-6892A>C (n.-98-6892A>C)
n.5383A>C
n.5424A>C
 ClinVar dbSNP
17g.43057082T=CA2260766400BRCA1c.5244A= (p.Pro1748=)
c.5247A= (p.Pro1749=)
c.5121A= (p.Pro1707=)
c.5241A= (p.Pro1747=)
c.5169A= (p.Pro1723=)
c.1935A= (p.Pro645=)
c.1797A= (p.Pro599=)
c.4359A= (p.Pro1453=)
c.5124A= (p.Pro1708=)
c.5313A= (p.Pro1771=)
c.5106A= (p.Pro1702=)
c.1809A= (p.Pro603=)
c.5310A= (p.Pro1770=)
c.1634A=
c.1821A= (p.Pro607=)
c.*5030A= (n.*5030A=)
c.177A= (p.Pro59=)
c.720A= (p.Pro240=)
c.-98-6892A= (n.-98-6892A=)
n.5383A=
n.5424A=
17g.43057082_43057121delinsGACA10589604BRCA1c.5205_5244delinsTC (p.Arg1736GlnfsTer?)
c.5208_5247delinsTC (p.Arg1737GlnfsTer?)
c.5082_5121delinsTC (p.Arg1695GlnfsTer?)
c.5202_5241delinsTC (p.Arg1735GlnfsTer?)
c.5130_5169delinsTC (p.Arg1711GlnfsTer?)
c.1896_1935delinsTC (p.Arg633GlnfsTer?)
c.1758_1797delinsTC (p.Arg587GlnfsTer?)
c.4320_4359delinsTC (p.Arg1441GlnfsTer?)
c.5085_5124delinsTC (p.Arg1696GlnfsTer?)
c.5274_5313delinsTC (p.Arg1759GlnfsTer?)
c.5067_5106delinsTC (p.Arg1690GlnfsTer?)
c.1770_1809delinsTC (p.Arg591GlnfsTer?)
c.5271_5310delinsTC (p.Arg1758GlnfsTer?)
c.1595_1634delinsTC
c.1782_1821delinsTC (p.Arg595GlnfsTer?)
c.*4991_*5030delinsTC (n.*4991_*5030delinsTC)
c.138_177delinsTC (p.Arg47GlnfsTer?)
c.681_720delinsTC (p.Arg228GlnfsTer?)
c.-98-6931_-98-6892delinsTC (n.-98-6931_-98-6892delinsTC)
n.5344_5383delinsTC
n.5385_5424delinsTC
 ClinVar dbSNP
17g.43057083G>ACA10591054BRCA1c.5243C>T (p.Pro1748Leu)
c.5246C>T (p.Pro1749Leu)
c.5120C>T (p.Pro1707Leu)
c.5240C>T (p.Pro1747Leu)
c.5168C>T (p.Pro1723Leu)
c.1934C>T (p.Pro645Leu)
c.1796C>T (p.Pro599Leu)
c.4358C>T (p.Pro1453Leu)
c.5123C>T (p.Pro1708Leu)
c.5312C>T (p.Pro1771Leu)
c.5105C>T (p.Pro1702Leu)
c.1808C>T (p.Pro603Leu)
c.5309C>T (p.Pro1770Leu)
c.1633C>T
c.1820C>T (p.Pro607Leu)
c.*5029C>T (n.*5029C>T)
c.176C>T (p.Pro59Leu)
c.719C>T (p.Pro240Leu)
c.-98-6893C>T (n.-98-6893C>T)
n.5382C>T
n.5423C>T
 ClinVar dbSNP
17g.43057083G>CCA003387BRCA1c.5243C>G (p.Pro1748Arg)
c.5246C>G (p.Pro1749Arg)
c.5120C>G (p.Pro1707Arg)
c.5240C>G (p.Pro1747Arg)
c.5168C>G (p.Pro1723Arg)
c.1934C>G (p.Pro645Arg)
c.1796C>G (p.Pro599Arg)
c.4358C>G (p.Pro1453Arg)
c.5123C>G (p.Pro1708Arg)
c.5312C>G (p.Pro1771Arg)
c.5105C>G (p.Pro1702Arg)
c.1808C>G (p.Pro603Arg)
c.5309C>G (p.Pro1770Arg)
c.1633C>G
c.1820C>G (p.Pro607Arg)
c.*5029C>G (n.*5029C>G)
c.176C>G (p.Pro59Arg)
c.719C>G (p.Pro240Arg)
c.-98-6893C>G (n.-98-6893C>G)
n.5382C>G
n.5423C>G
 ClinVar dbSNP
17g.43057083G=CA2260766401BRCA1c.5243C= (p.Pro1748=)
c.5246C= (p.Pro1749=)
c.5120C= (p.Pro1707=)
c.5240C= (p.Pro1747=)
c.5168C= (p.Pro1723=)
c.1934C= (p.Pro645=)
c.1796C= (p.Pro599=)
c.4358C= (p.Pro1453=)
c.5123C= (p.Pro1708=)
c.5312C= (p.Pro1771=)
c.5105C= (p.Pro1702=)
c.1808C= (p.Pro603=)
c.5309C= (p.Pro1770=)
c.1633C=
c.1820C= (p.Pro607=)
c.*5029C= (n.*5029C=)
c.176C= (p.Pro59=)
c.719C= (p.Pro240=)
c.-98-6893C= (n.-98-6893C=)
n.5382C=
n.5423C=
17g.43057083G>TCA10591055BRCA1c.5243C>A (p.Pro1748Gln)
c.5246C>A (p.Pro1749Gln)
c.5120C>A (p.Pro1707Gln)
c.5240C>A (p.Pro1747Gln)
c.5168C>A (p.Pro1723Gln)
c.1934C>A (p.Pro645Gln)
c.1796C>A (p.Pro599Gln)
c.4358C>A (p.Pro1453Gln)
c.5123C>A (p.Pro1708Gln)
c.5312C>A (p.Pro1771Gln)
c.5105C>A (p.Pro1702Gln)
c.1808C>A (p.Pro603Gln)
c.5309C>A (p.Pro1770Gln)
c.1633C>A
c.1820C>A (p.Pro607Gln)
c.*5029C>A (n.*5029C>A)
c.176C>A (p.Pro59Gln)
c.719C>A (p.Pro240Gln)
c.-98-6893C>A (n.-98-6893C>A)
n.5382C>A
n.5423C>A
 ClinVar dbSNP
17g.43057083_43057084delinsAACA645577432BRCA1c.5242_5243delinsTT (p.Pro1748Leu)
c.5245_5246delinsTT (p.Pro1749Leu)
c.5119_5120delinsTT (p.Pro1707Leu)
c.5239_5240delinsTT (p.Pro1747Leu)
c.5167_5168delinsTT (p.Pro1723Leu)
c.1933_1934delinsTT (p.Pro645Leu)
c.1795_1796delinsTT (p.Pro599Leu)
c.4357_4358delinsTT (p.Pro1453Leu)
c.5122_5123delinsTT (p.Pro1708Leu)
c.5311_5312delinsTT (p.Pro1771Leu)
c.5104_5105delinsTT (p.Pro1702Leu)
c.1807_1808delinsTT (p.Pro603Leu)
c.5308_5309delinsTT (p.Pro1770Leu)
c.1632_1633delinsTT
c.1819_1820delinsTT (p.Pro607Leu)
c.*5028_*5029delinsTT (n.*5028_*5029delinsTT)
c.175_176delinsTT (p.Pro59Leu)
c.718_719delinsTT (p.Pro240Leu)
c.-98-6894_-98-6893delinsTT (n.-98-6894_-98-6893delinsTT)
n.5381_5382delinsTT
n.5422_5423delinsTT
 COSMIC COSMIC
17g.43057084delCA2733913162BRCA1c.5243del (p.Pro1748GlnfsTer16)
c.5246del (p.Pro1749GlnfsTer16)
c.5120del (p.Pro1707GlnfsTer16)
c.5240del (p.Pro1747GlnfsTer16)
c.5168del (p.Pro1723GlnfsTer16)
c.1934del (p.Pro645GlnfsTer16)
c.1796del (p.Pro599GlnfsTer16)
c.4358del (p.Pro1453GlnfsTer16)
c.5123del (p.Pro1708GlnfsTer16)
c.5312del (p.Pro1771GlnfsTer16)
c.5105del (p.Pro1702GlnfsTer16)
c.1808del (p.Pro603GlnfsTer16)
c.5309del (p.Pro1770GlnfsTer16)
c.1633del
c.1820del (p.Pro607GlnfsTer16)
c.*5029del (n.*5029del)
c.176del (p.Pro59GlnfsTer16)
c.719del (p.Pro240GlnfsTer16)
c.-98-6893del (n.-98-6893del)
n.5382del
n.5423del
 dbSNP
17g.43057084G>ACA10591056BRCA1c.5242C>T (p.Pro1748Ser)
c.5245C>T (p.Pro1749Ser)
c.5119C>T (p.Pro1707Ser)
c.5239C>T (p.Pro1747Ser)
c.5167C>T (p.Pro1723Ser)
c.1933C>T (p.Pro645Ser)
c.1795C>T (p.Pro599Ser)
c.4357C>T (p.Pro1453Ser)
c.5122C>T (p.Pro1708Ser)
c.5311C>T (p.Pro1771Ser)
c.5104C>T (p.Pro1702Ser)
c.1807C>T (p.Pro603Ser)
c.5308C>T (p.Pro1770Ser)
c.1632C>T
c.1819C>T (p.Pro607Ser)
c.*5028C>T (n.*5028C>T)
c.175C>T (p.Pro59Ser)
c.718C>T (p.Pro240Ser)
c.-98-6894C>T (n.-98-6894C>T)
n.5381C>T
n.5422C>T
 ClinVar dbSNP COSMIC COSMIC
17g.43057084G>CCA003386BRCA1c.5242C>G (p.Pro1748Ala)
c.5245C>G (p.Pro1749Ala)
c.5119C>G (p.Pro1707Ala)
c.5239C>G (p.Pro1747Ala)
c.5167C>G (p.Pro1723Ala)
c.1933C>G (p.Pro645Ala)
c.1795C>G (p.Pro599Ala)
c.4357C>G (p.Pro1453Ala)
c.5122C>G (p.Pro1708Ala)
c.5311C>G (p.Pro1771Ala)
c.5104C>G (p.Pro1702Ala)
c.1807C>G (p.Pro603Ala)
c.5308C>G (p.Pro1770Ala)
c.1632C>G
c.1819C>G (p.Pro607Ala)
c.*5028C>G (n.*5028C>G)
c.175C>G (p.Pro59Ala)
c.718C>G (p.Pro240Ala)
c.-98-6894C>G (n.-98-6894C>G)
n.5381C>G
n.5422C>G
 ClinVar dbSNP ExAC gnomAD v2
17g.43057084G=CA2260766402BRCA1c.5242C= (p.Pro1748=)
c.5245C= (p.Pro1749=)
c.5119C= (p.Pro1707=)
c.5239C= (p.Pro1747=)
c.5167C= (p.Pro1723=)
c.1933C= (p.Pro645=)
c.1795C= (p.Pro599=)
c.4357C= (p.Pro1453=)
c.5122C= (p.Pro1708=)
c.5311C= (p.Pro1771=)
c.5104C= (p.Pro1702=)
c.1807C= (p.Pro603=)
c.5308C= (p.Pro1770=)
c.1632C=
c.1819C= (p.Pro607=)
c.*5028C= (n.*5028C=)
c.175C= (p.Pro59=)
c.718C= (p.Pro240=)
c.-98-6894C= (n.-98-6894C=)
n.5381C=
n.5422C=
17g.43057084G>TCA10580490BRCA1c.5242C>A (p.Pro1748Thr)
c.5245C>A (p.Pro1749Thr)
c.5119C>A (p.Pro1707Thr)
c.5239C>A (p.Pro1747Thr)
c.5167C>A (p.Pro1723Thr)
c.1933C>A (p.Pro645Thr)
c.1795C>A (p.Pro599Thr)
c.4357C>A (p.Pro1453Thr)
c.5122C>A (p.Pro1708Thr)
c.5311C>A (p.Pro1771Thr)
c.5104C>A (p.Pro1702Thr)
c.1807C>A (p.Pro603Thr)
c.5308C>A (p.Pro1770Thr)
c.1632C>A
c.1819C>A (p.Pro607Thr)
c.*5028C>A (n.*5028C>A)
c.175C>A (p.Pro59Thr)
c.718C>A (p.Pro240Thr)
c.-98-6894C>A (n.-98-6894C>A)
n.5381C>A
n.5422C>A
 ClinVar dbSNP
17g.43057085A=CA2260766404BRCA1c.5241T= (p.Gly1747=)
c.5244T= (p.Gly1748=)
c.5118T= (p.Gly1706=)
c.5238T= (p.Gly1746=)
c.5166T= (p.Gly1722=)
c.1932T= (p.Gly644=)
c.1794T= (p.Gly598=)
c.4356T= (p.Gly1452=)
c.5121T= (p.Gly1707=)
c.5310T= (p.Gly1770=)
c.5103T= (p.Gly1701=)
c.1806T= (p.Gly602=)
c.5307T= (p.Gly1769=)
c.1631T=
c.1818T= (p.Gly606=)
c.*5027T= (n.*5027T=)
c.174T= (p.Gly58=)
c.717T= (p.Gly239=)
c.-98-6895T= (n.-98-6895T=)
n.5380T=
n.5421T=
17g.43057085A>CCA500144649BRCA1c.5241T>G (p.Gly1747=)
c.5244T>G (p.Gly1748=)
c.5118T>G (p.Gly1706=)
c.5238T>G (p.Gly1746=)
c.5166T>G (p.Gly1722=)
c.1932T>G (p.Gly644=)
c.1794T>G (p.Gly598=)
c.4356T>G (p.Gly1452=)
c.5121T>G (p.Gly1707=)
c.5310T>G (p.Gly1770=)
c.5103T>G (p.Gly1701=)
c.1806T>G (p.Gly602=)
c.5307T>G (p.Gly1769=)
c.1631T>G
c.1818T>G (p.Gly606=)
c.*5027T>G (n.*5027T>G)
c.174T>G (p.Gly58=)
c.717T>G (p.Gly239=)
c.-98-6895T>G (n.-98-6895T>G)
n.5380T>G
n.5421T>G
 ClinVar dbSNP
17g.43057085A>GCA500144651BRCA1c.5241T>C (p.Gly1747=)
c.5244T>C (p.Gly1748=)
c.5118T>C (p.Gly1706=)
c.5238T>C (p.Gly1746=)
c.5166T>C (p.Gly1722=)
c.1932T>C (p.Gly644=)
c.1794T>C (p.Gly598=)
c.4356T>C (p.Gly1452=)
c.5121T>C (p.Gly1707=)
c.5310T>C (p.Gly1770=)
c.5103T>C (p.Gly1701=)
c.1806T>C (p.Gly602=)
c.5307T>C (p.Gly1769=)
c.1631T>C
c.1818T>C (p.Gly606=)
c.*5027T>C (n.*5027T>C)
c.174T>C (p.Gly58=)
c.717T>C (p.Gly239=)
c.-98-6895T>C (n.-98-6895T>C)
n.5380T>C
n.5421T>C
 ClinVar dbSNP
17g.43057085A>TCA500144653BRCA1c.5241T>A (p.Gly1747=)
c.5244T>A (p.Gly1748=)
c.5118T>A (p.Gly1706=)
c.5238T>A (p.Gly1746=)
c.5166T>A (p.Gly1722=)
c.1932T>A (p.Gly644=)
c.1794T>A (p.Gly598=)
c.4356T>A (p.Gly1452=)
c.5121T>A (p.Gly1707=)
c.5310T>A (p.Gly1770=)
c.5103T>A (p.Gly1701=)
c.1806T>A (p.Gly602=)
c.5307T>A (p.Gly1769=)
c.1631T>A
c.1818T>A (p.Gly606=)
c.*5027T>A (n.*5027T>A)
c.174T>A (p.Gly58=)
c.717T>A (p.Gly239=)
c.-98-6895T>A (n.-98-6895T>A)
n.5380T>A
n.5421T>A
 ClinVar dbSNP
17g.43057085dupCA2697559966BRCA1c.5241dup (p.Pro1748SerfsTer?)
c.5244dup (p.Pro1749SerfsTer?)
c.5118dup (p.Pro1707SerfsTer?)
c.5238dup (p.Pro1747SerfsTer?)
c.5166dup (p.Pro1723SerfsTer?)
c.1932dup (p.Pro645SerfsTer?)
c.1794dup (p.Pro599SerfsTer?)
c.4356dup (p.Pro1453SerfsTer?)
c.5121dup (p.Pro1708SerfsTer?)
c.5310dup (p.Pro1771SerfsTer?)
c.5103dup (p.Pro1702SerfsTer?)
c.1806dup (p.Pro603SerfsTer?)
c.5307dup (p.Pro1770SerfsTer?)
c.1631dup
c.1818dup (p.Pro607SerfsTer?)
c.*5027dup (n.*5027dup)
c.174dup (p.Pro59SerfsTer?)
c.717dup (p.Pro240SerfsTer?)
c.-98-6895dup (n.-98-6895dup)
n.5380dup
n.5421dup
 ClinVar
17g.43057085_43057086delinsACCA2260766403BRCA1c.5240_5241delinsGT (p.Gly1747=)
c.5243_5244delinsGT (p.Gly1748=)
c.5117_5118delinsGT (p.Gly1706=)
c.5237_5238delinsGT (p.Gly1746=)
c.5165_5166delinsGT (p.Gly1722=)
c.1931_1932delinsGT (p.Gly644=)
c.1793_1794delinsGT (p.Gly598=)
c.4355_4356delinsGT (p.Gly1452=)
c.5120_5121delinsGT (p.Gly1707=)
c.5309_5310delinsGT (p.Gly1770=)
c.5102_5103delinsGT (p.Gly1701=)
c.1805_1806delinsGT (p.Gly602=)
c.5306_5307delinsGT (p.Gly1769=)
c.1630_1631delinsGT
c.1817_1818delinsGT (p.Gly606=)
c.*5026_*5027delinsGT (n.*5026_*5027delinsGT)
c.173_174delinsGT (p.Gly58=)
c.716_717delinsGT (p.Gly239=)
c.-98-6896_-98-6895delinsGT (n.-98-6896_-98-6895delinsGT)
n.5379_5380delinsGT
n.5420_5421delinsGT
17g.43057086C>ACA10591057BRCA1c.5240G>T (p.Gly1747Val)
c.5243G>T (p.Gly1748Val)
c.5117G>T (p.Gly1706Val)
c.5237G>T (p.Gly1746Val)
c.5165G>T (p.Gly1722Val)
c.1931G>T (p.Gly644Val)
c.1793G>T (p.Gly598Val)
c.4355G>T (p.Gly1452Val)
c.5120G>T (p.Gly1707Val)
c.5309G>T (p.Gly1770Val)
c.5102G>T (p.Gly1701Val)
c.1805G>T (p.Gly602Val)
c.5306G>T (p.Gly1769Val)
c.1630G>T
c.1817G>T (p.Gly606Val)
c.*5026G>T (n.*5026G>T)
c.173G>T (p.Gly58Val)
c.716G>T (p.Gly239Val)
c.-98-6896G>T (n.-98-6896G>T)
n.5379G>T
n.5420G>T
 ClinVar dbSNP
17g.43057086C=CA2260766405BRCA1c.5240G= (p.Gly1747=)
c.5243G= (p.Gly1748=)
c.5117G= (p.Gly1706=)
c.5237G= (p.Gly1746=)
c.5165G= (p.Gly1722=)
c.1931G= (p.Gly644=)
c.1793G= (p.Gly598=)
c.4355G= (p.Gly1452=)
c.5120G= (p.Gly1707=)
c.5309G= (p.Gly1770=)
c.5102G= (p.Gly1701=)
c.1805G= (p.Gly602=)
c.5306G= (p.Gly1769=)
c.1630G=
c.1817G= (p.Gly606=)
c.*5026G= (n.*5026G=)
c.173G= (p.Gly58=)
c.716G= (p.Gly239=)
c.-98-6896G= (n.-98-6896G=)
n.5379G=
n.5420G=
17g.43057086C>GCA10591058BRCA1c.5240G>C (p.Gly1747Ala)
c.5243G>C (p.Gly1748Ala)
c.5117G>C (p.Gly1706Ala)
c.5237G>C (p.Gly1746Ala)
c.5165G>C (p.Gly1722Ala)
c.1931G>C (p.Gly644Ala)
c.1793G>C (p.Gly598Ala)
c.4355G>C (p.Gly1452Ala)
c.5120G>C (p.Gly1707Ala)
c.5309G>C (p.Gly1770Ala)
c.5102G>C (p.Gly1701Ala)
c.1805G>C (p.Gly602Ala)
c.5306G>C (p.Gly1769Ala)
c.1630G>C
c.1817G>C (p.Gly606Ala)
c.*5026G>C (n.*5026G>C)
c.173G>C (p.Gly58Ala)
c.716G>C (p.Gly239Ala)
c.-98-6896G>C (n.-98-6896G>C)
n.5379G>C
n.5420G>C
 ClinVar dbSNP
17g.43057086C>TCA003385BRCA1c.5240G>A (p.Gly1747Asp)
c.5243G>A (p.Gly1748Asp)
c.5117G>A (p.Gly1706Asp)
c.5237G>A (p.Gly1746Asp)
c.5165G>A (p.Gly1722Asp)
c.1931G>A (p.Gly644Asp)
c.1793G>A (p.Gly598Asp)
c.4355G>A (p.Gly1452Asp)
c.5120G>A (p.Gly1707Asp)
c.5309G>A (p.Gly1770Asp)
c.5102G>A (p.Gly1701Asp)
c.1805G>A (p.Gly602Asp)
c.5306G>A (p.Gly1769Asp)
c.1630G>A
c.1817G>A (p.Gly606Asp)
c.*5026G>A (n.*5026G>A)
c.173G>A (p.Gly58Asp)
c.716G>A (p.Gly239Asp)
c.-98-6896G>A (n.-98-6896G>A)
n.5379G>A
n.5420G>A
 ClinVar dbSNP
17g.43057087delCA003384BRCA1c.5240del (p.Gly1747ValfsTer17)
c.5243del (p.Gly1748ValfsTer17)
c.5117del (p.Gly1706ValfsTer17)
c.5237del (p.Gly1746ValfsTer17)
c.5165del (p.Gly1722ValfsTer17)
c.1931del (p.Gly644ValfsTer17)
c.1793del (p.Gly598ValfsTer17)
c.4355del (p.Gly1452ValfsTer17)
c.5120del (p.Gly1707ValfsTer17)
c.5309del (p.Gly1770ValfsTer17)
c.5102del (p.Gly1701ValfsTer17)
c.1805del (p.Gly602ValfsTer17)
c.5306del (p.Gly1769ValfsTer17)
c.1630del
c.1817del (p.Gly606ValfsTer17)
c.*5026del (n.*5026del)
c.173del (p.Gly58ValfsTer17)
c.716del (p.Gly239ValfsTer17)
c.-98-6896del (n.-98-6896del)
n.5379del
n.5420del
 ClinVar dbSNP
17g.43057086_43057089dupCA2499224369BRCA1c.5237_5240dup (p.Pro1748ArgfsTer?)
c.5240_5243dup (p.Pro1749ArgfsTer?)
c.5114_5117dup (p.Pro1707ArgfsTer?)
c.5234_5237dup (p.Pro1747ArgfsTer?)
c.5162_5165dup (p.Pro1723ArgfsTer?)
c.1928_1931dup (p.Pro645ArgfsTer?)
c.1790_1793dup (p.Pro599ArgfsTer?)
c.4352_4355dup (p.Pro1453ArgfsTer?)
c.5117_5120dup (p.Pro1708ArgfsTer?)
c.5306_5309dup (p.Pro1771ArgfsTer?)
c.5099_5102dup (p.Pro1702ArgfsTer?)
c.1802_1805dup (p.Pro603ArgfsTer?)
c.5303_5306dup (p.Pro1770ArgfsTer?)
c.1627_1630dup
c.1814_1817dup (p.Pro607ArgfsTer?)
c.*5023_*5026dup (n.*5023_*5026dup)
c.170_173dup (p.Pro59ArgfsTer?)
c.713_716dup (p.Pro240ArgfsTer?)
c.-98-6899_-98-6896dup (n.-98-6899_-98-6896dup)
n.5376_5379dup
n.5417_5420dup
17g.43057086_43057120delCA2740089957BRCA1c.5206_5240del (p.Arg1736SerfsTer?)
c.5209_5243del (p.Arg1737SerfsTer?)
c.5083_5117del (p.Arg1695SerfsTer?)
c.5203_5237del (p.Arg1735SerfsTer?)
c.5131_5165del (p.Arg1711SerfsTer?)
c.1897_1931del (p.Arg633SerfsTer?)
c.1759_1793del (p.Arg587SerfsTer?)
c.4321_4355del (p.Arg1441SerfsTer?)
c.5086_5120del (p.Arg1696SerfsTer?)
c.5275_5309del (p.Arg1759SerfsTer?)
c.5068_5102del (p.Arg1690SerfsTer?)
c.1771_1805del (p.Arg591SerfsTer?)
c.5272_5306del (p.Arg1758SerfsTer?)
c.1596_1630del
c.1783_1817del (p.Arg595SerfsTer?)
c.*4992_*5026del (n.*4992_*5026del)
c.139_173del (p.Arg47SerfsTer?)
c.682_716del (p.Arg228SerfsTer?)
c.-98-6930_-98-6896del (n.-98-6930_-98-6896del)
n.5345_5379del
n.5386_5420del
17g.43057087C>ACA003383BRCA1c.5239G>T (p.Gly1747Cys)
c.5242G>T (p.Gly1748Cys)
c.5116G>T (p.Gly1706Cys)
c.5236G>T (p.Gly1746Cys)
c.5164G>T (p.Gly1722Cys)
c.1930G>T (p.Gly644Cys)
c.1792G>T (p.Gly598Cys)
c.4354G>T (p.Gly1452Cys)
c.5119G>T (p.Gly1707Cys)
c.5308G>T (p.Gly1770Cys)
c.5101G>T (p.Gly1701Cys)
c.1804G>T (p.Gly602Cys)
c.5305G>T (p.Gly1769Cys)
c.1629G>T
c.1816G>T (p.Gly606Cys)
c.*5025G>T (n.*5025G>T)
c.172G>T (p.Gly58Cys)
c.715G>T (p.Gly239Cys)
c.-98-6897G>T (n.-98-6897G>T)
n.5378G>T
n.5419G>T
 ClinVar dbSNP gnomAD v4
17g.43057087C=CA2260766407BRCA1c.5239G= (p.Gly1747=)
c.5242G= (p.Gly1748=)
c.5116G= (p.Gly1706=)
c.5236G= (p.Gly1746=)
c.5164G= (p.Gly1722=)
c.1930G= (p.Gly644=)
c.1792G= (p.Gly598=)
c.4354G= (p.Gly1452=)
c.5119G= (p.Gly1707=)
c.5308G= (p.Gly1770=)
c.5101G= (p.Gly1701=)
c.1804G= (p.Gly602=)
c.5305G= (p.Gly1769=)
c.1629G=
c.1816G= (p.Gly606=)
c.*5025G= (n.*5025G=)
c.172G= (p.Gly58=)
c.715G= (p.Gly239=)
c.-98-6897G= (n.-98-6897G=)
n.5378G=
n.5419G=
17g.43057087C>GCA10583548BRCA1c.5239G>C (p.Gly1747Arg)
c.5242G>C (p.Gly1748Arg)
c.5116G>C (p.Gly1706Arg)
c.5236G>C (p.Gly1746Arg)
c.5164G>C (p.Gly1722Arg)
c.1930G>C (p.Gly644Arg)
c.1792G>C (p.Gly598Arg)
c.4354G>C (p.Gly1452Arg)
c.5119G>C (p.Gly1707Arg)
c.5308G>C (p.Gly1770Arg)
c.5101G>C (p.Gly1701Arg)
c.1804G>C (p.Gly602Arg)
c.5305G>C (p.Gly1769Arg)
c.1629G>C
c.1816G>C (p.Gly606Arg)
c.*5025G>C (n.*5025G>C)
c.172G>C (p.Gly58Arg)
c.715G>C (p.Gly239Arg)
c.-98-6897G>C (n.-98-6897G>C)
n.5378G>C
n.5419G>C
 ClinVar dbSNP
17g.43057087C>TCA003382BRCA1c.5239G>A (p.Gly1747Ser)
c.5242G>A (p.Gly1748Ser)
c.5116G>A (p.Gly1706Ser)
c.5236G>A (p.Gly1746Ser)
c.5164G>A (p.Gly1722Ser)
c.1930G>A (p.Gly644Ser)
c.1792G>A (p.Gly598Ser)
c.4354G>A (p.Gly1452Ser)
c.5119G>A (p.Gly1707Ser)
c.5308G>A (p.Gly1770Ser)
c.5101G>A (p.Gly1701Ser)
c.1804G>A (p.Gly602Ser)
c.5305G>A (p.Gly1769Ser)
c.1629G>A
c.1816G>A (p.Gly606Ser)
c.*5025G>A (n.*5025G>A)
c.172G>A (p.Gly58Ser)
c.715G>A (p.Gly239Ser)
c.-98-6897G>A (n.-98-6897G>A)
n.5378G>A
n.5419G>A
 ClinVar dbSNP
17g.43057087_43057088delinsCTCA2260766406BRCA1c.5238_5239delinsAG (p.Gln1746=)
c.5241_5242delinsAG (p.Gln1747=)
c.5115_5116delinsAG (p.Gln1705=)
c.5235_5236delinsAG (p.Gln1745=)
c.5163_5164delinsAG (p.Gln1721=)
c.1929_1930delinsAG (p.Gln643=)
c.1791_1792delinsAG (p.Gln597=)
c.4353_4354delinsAG (p.Gln1451=)
c.5118_5119delinsAG (p.Gln1706=)
c.5307_5308delinsAG (p.Gln1769=)
c.5100_5101delinsAG (p.Gln1700=)
c.1803_1804delinsAG (p.Gln601=)
c.5304_5305delinsAG (p.Gln1768=)
c.1628_1629delinsAG
c.1815_1816delinsAG (p.Gln605=)
c.*5024_*5025delinsAG (n.*5024_*5025delinsAG)
c.171_172delinsAG (p.Gln57=)
c.714_715delinsAG (p.Gln238=)
c.-98-6898_-98-6897delinsAG (n.-98-6898_-98-6897delinsAG)
n.5377_5378delinsAG
n.5418_5419delinsAG
17g.43057088T>ACA10591059BRCA1c.5238A>T (p.Gln1746His)
c.5241A>T (p.Gln1747His)
c.5115A>T (p.Gln1705His)
c.5235A>T (p.Gln1745His)
c.5163A>T (p.Gln1721His)
c.1929A>T (p.Gln643His)
c.1791A>T (p.Gln597His)
c.4353A>T (p.Gln1451His)
c.5118A>T (p.Gln1706His)
c.5307A>T (p.Gln1769His)
c.5100A>T (p.Gln1700His)
c.1803A>T (p.Gln601His)
c.5304A>T (p.Gln1768His)
c.1628A>T
c.1815A>T (p.Gln605His)
c.*5024A>T (n.*5024A>T)
c.171A>T (p.Gln57His)
c.714A>T (p.Gln238His)
c.-98-6898A>T (n.-98-6898A>T)
n.5377A>T
n.5418A>T
 ClinVar dbSNP
17g.43057088T>CCA500144671BRCA1c.5238A>G (p.Gln1746=)
c.5241A>G (p.Gln1747=)
c.5115A>G (p.Gln1705=)
c.5235A>G (p.Gln1745=)
c.5163A>G (p.Gln1721=)
c.1929A>G (p.Gln643=)
c.1791A>G (p.Gln597=)
c.4353A>G (p.Gln1451=)
c.5118A>G (p.Gln1706=)
c.5307A>G (p.Gln1769=)
c.5100A>G (p.Gln1700=)
c.1803A>G (p.Gln601=)
c.5304A>G (p.Gln1768=)
c.1628A>G
c.1815A>G (p.Gln605=)
c.*5024A>G (n.*5024A>G)
c.171A>G (p.Gln57=)
c.714A>G (p.Gln238=)
c.-98-6898A>G (n.-98-6898A>G)
n.5377A>G
n.5418A>G
 ClinVar dbSNP
17g.43057088T>GCA003380BRCA1c.5238A>C (p.Gln1746His)
c.5241A>C (p.Gln1747His)
c.5115A>C (p.Gln1705His)
c.5235A>C (p.Gln1745His)
c.5163A>C (p.Gln1721His)
c.1929A>C (p.Gln643His)
c.1791A>C (p.Gln597His)
c.4353A>C (p.Gln1451His)
c.5118A>C (p.Gln1706His)
c.5307A>C (p.Gln1769His)
c.5100A>C (p.Gln1700His)
c.1803A>C (p.Gln601His)
c.5304A>C (p.Gln1768His)
c.1628A>C
c.1815A>C (p.Gln605His)
c.*5024A>C (n.*5024A>C)
c.171A>C (p.Gln57His)
c.714A>C (p.Gln238His)
c.-98-6898A>C (n.-98-6898A>C)
n.5377A>C
n.5418A>C
 ClinVar dbSNP
17g.43057088T=CA2260766408BRCA1c.5238A= (p.Gln1746=)
c.5241A= (p.Gln1747=)
c.5115A= (p.Gln1705=)
c.5235A= (p.Gln1745=)
c.5163A= (p.Gln1721=)
c.1929A= (p.Gln643=)
c.1791A= (p.Gln597=)
c.4353A= (p.Gln1451=)
c.5118A= (p.Gln1706=)
c.5307A= (p.Gln1769=)
c.5100A= (p.Gln1700=)
c.1803A= (p.Gln601=)
c.5304A= (p.Gln1768=)
c.1628A=
c.1815A= (p.Gln605=)
c.*5024A= (n.*5024A=)
c.171A= (p.Gln57=)
c.714A= (p.Gln238=)
c.-98-6898A= (n.-98-6898A=)
n.5377A=
n.5418A=
17g.43057089delCA003381BRCA1c.5238del (p.Gly1747ValfsTer17)
c.5241del (p.Gly1748ValfsTer17)
c.5115del (p.Gly1706ValfsTer17)
c.5235del (p.Gly1746ValfsTer17)
c.5163del (p.Gly1722ValfsTer17)
c.1929del (p.Gly644ValfsTer17)
c.1791del (p.Gly598ValfsTer17)
c.4353del (p.Gly1452ValfsTer17)
c.5118del (p.Gly1707ValfsTer17)
c.5307del (p.Gly1770ValfsTer17)
c.5100del (p.Gly1701ValfsTer17)
c.1803del (p.Gly602ValfsTer17)
c.5304del (p.Gly1769ValfsTer17)
c.1628del
c.1815del (p.Gly606ValfsTer17)
c.*5024del (n.*5024del)
c.171del (p.Gly58ValfsTer17)
c.714del (p.Gly239ValfsTer17)
c.-98-6898del (n.-98-6898del)
n.5377del
n.5418del
 ClinVar dbSNP
17g.43057088_43057091delinsTTGGCA2260766409BRCA1c.5235_5238delinsCCAA (p.His1745=)
c.5238_5241delinsCCAA (p.His1746=)
c.5112_5115delinsCCAA (p.His1704=)
c.5232_5235delinsCCAA (p.His1744=)
c.5160_5163delinsCCAA (p.His1720=)
c.1926_1929delinsCCAA (p.His642=)
c.1788_1791delinsCCAA (p.His596=)
c.4350_4353delinsCCAA (p.His1450=)
c.5115_5118delinsCCAA (p.His1705=)
c.5304_5307delinsCCAA (p.His1768=)
c.5097_5100delinsCCAA (p.His1699=)
c.1800_1803delinsCCAA (p.His600=)
c.5301_5304delinsCCAA (p.His1767=)
c.1625_1628delinsCCAA
c.1812_1815delinsCCAA (p.His604=)
c.*5021_*5024delinsCCAA (n.*5021_*5024delinsCCAA)
c.168_171delinsCCAA (p.His56=)
c.711_714delinsCCAA (p.His237=)
c.-98-6901_-98-6898delinsCCAA (n.-98-6901_-98-6898delinsCCAA)
n.5374_5377delinsCCAA
n.5415_5418delinsCCAA
17g.43057089T>ACA10591060BRCA1c.5237A>T (p.Gln1746Leu)
c.5240A>T (p.Gln1747Leu)
c.5114A>T (p.Gln1705Leu)
c.5234A>T (p.Gln1745Leu)
c.5162A>T (p.Gln1721Leu)
c.1928A>T (p.Gln643Leu)
c.1790A>T (p.Gln597Leu)
c.4352A>T (p.Gln1451Leu)
c.5117A>T (p.Gln1706Leu)
c.5306A>T (p.Gln1769Leu)
c.5099A>T (p.Gln1700Leu)
c.1802A>T (p.Gln601Leu)
c.5303A>T (p.Gln1768Leu)
c.1627A>T
c.1814A>T (p.Gln605Leu)
c.*5023A>T (n.*5023A>T)
c.170A>T (p.Gln57Leu)
c.713A>T (p.Gln238Leu)
c.-98-6899A>T (n.-98-6899A>T)
n.5376A>T
n.5417A>T
 ClinVar dbSNP
17g.43057089T>CCA10591061BRCA1c.5237A>G (p.Gln1746Arg)
c.5240A>G (p.Gln1747Arg)
c.5114A>G (p.Gln1705Arg)
c.5234A>G (p.Gln1745Arg)
c.5162A>G (p.Gln1721Arg)
c.1928A>G (p.Gln643Arg)
c.1790A>G (p.Gln597Arg)
c.4352A>G (p.Gln1451Arg)
c.5117A>G (p.Gln1706Arg)
c.5306A>G (p.Gln1769Arg)
c.5099A>G (p.Gln1700Arg)
c.1802A>G (p.Gln601Arg)
c.5303A>G (p.Gln1768Arg)
c.1627A>G
c.1814A>G (p.Gln605Arg)
c.*5023A>G (n.*5023A>G)
c.170A>G (p.Gln57Arg)
c.713A>G (p.Gln238Arg)
c.-98-6899A>G (n.-98-6899A>G)
n.5376A>G
n.5417A>G
 ClinVar dbSNP
17g.43057089T>GCA10591062BRCA1c.5237A>C (p.Gln1746Pro)
c.5240A>C (p.Gln1747Pro)
c.5114A>C (p.Gln1705Pro)
c.5234A>C (p.Gln1745Pro)
c.5162A>C (p.Gln1721Pro)
c.1928A>C (p.Gln643Pro)
c.1790A>C (p.Gln597Pro)
c.4352A>C (p.Gln1451Pro)
c.5117A>C (p.Gln1706Pro)
c.5306A>C (p.Gln1769Pro)
c.5099A>C (p.Gln1700Pro)
c.1802A>C (p.Gln601Pro)
c.5303A>C (p.Gln1768Pro)
c.1627A>C
c.1814A>C (p.Gln605Pro)
c.*5023A>C (n.*5023A>C)
c.170A>C (p.Gln57Pro)
c.713A>C (p.Gln238Pro)
c.-98-6899A>C (n.-98-6899A>C)
n.5376A>C
n.5417A>C
 ClinVar dbSNP
17g.43057089T=CA2260766411BRCA1c.5237A= (p.Gln1746=)
c.5240A= (p.Gln1747=)
c.5114A= (p.Gln1705=)
c.5234A= (p.Gln1745=)
c.5162A= (p.Gln1721=)
c.1928A= (p.Gln643=)
c.1790A= (p.Gln597=)
c.4352A= (p.Gln1451=)
c.5117A= (p.Gln1706=)
c.5306A= (p.Gln1769=)
c.5099A= (p.Gln1700=)
c.1802A= (p.Gln601=)
c.5303A= (p.Gln1768=)
c.1627A=
c.1814A= (p.Gln605=)
c.*5023A= (n.*5023A=)
c.170A= (p.Gln57=)
c.713A= (p.Gln238=)
c.-98-6899A= (n.-98-6899A=)
n.5376A=
n.5417A=
17g.43057089_43057090delinsTGCA2260766410BRCA1c.5236_5237delinsCA (p.Gln1746=)
c.5239_5240delinsCA (p.Gln1747=)
c.5113_5114delinsCA (p.Gln1705=)
c.5233_5234delinsCA (p.Gln1745=)
c.5161_5162delinsCA (p.Gln1721=)
c.1927_1928delinsCA (p.Gln643=)
c.1789_1790delinsCA (p.Gln597=)
c.4351_4352delinsCA (p.Gln1451=)
c.5116_5117delinsCA (p.Gln1706=)
c.5305_5306delinsCA (p.Gln1769=)
c.5098_5099delinsCA (p.Gln1700=)
c.1801_1802delinsCA (p.Gln601=)
c.5302_5303delinsCA (p.Gln1768=)
c.1626_1627delinsCA
c.1813_1814delinsCA (p.Gln605=)
c.*5022_*5023delinsCA (n.*5022_*5023delinsCA)
c.169_170delinsCA (p.Gln57=)
c.712_713delinsCA (p.Gln238=)
c.-98-6900_-98-6899delinsCA (n.-98-6900_-98-6899delinsCA)
n.5375_5376delinsCA
n.5416_5417delinsCA
17g.43057093_43057095delCA915950054BRCA1c.5235_5237del (p.His1745del)
c.5238_5240del (p.His1746del)
c.5112_5114del (p.His1704del)
c.5232_5234del (p.His1744del)
c.5160_5162del (p.His1720del)
c.1926_1928del (p.His642del)
c.1788_1790del (p.His596del)
c.4350_4352del (p.His1450del)
c.5115_5117del (p.His1705del)
c.5304_5306del (p.His1768del)
c.5097_5099del (p.His1699del)
c.1800_1802del (p.His600del)
c.5301_5303del (p.His1767del)
c.1625_1627del
c.1812_1814del (p.His604del)
c.*5021_*5023del (n.*5021_*5023del)
c.168_170del (p.His56del)
c.711_713del (p.His237del)
c.-98-6901_-98-6899del (n.-98-6901_-98-6899del)
n.5374_5376del
n.5415_5417del
 ClinVar dbSNP
17g.43057090G>ACA003379BRCA1c.5236C>T (p.Gln1746Ter)
c.5239C>T (p.Gln1747Ter)
c.5113C>T (p.Gln1705Ter)
c.5233C>T (p.Gln1745Ter)
c.5161C>T (p.Gln1721Ter)
c.1927C>T (p.Gln643Ter)
c.1789C>T (p.Gln597Ter)
c.4351C>T (p.Gln1451Ter)
c.5116C>T (p.Gln1706Ter)
c.5305C>T (p.Gln1769Ter)
c.5098C>T (p.Gln1700Ter)
c.1801C>T (p.Gln601Ter)
c.5302C>T (p.Gln1768Ter)
c.1626C>T
c.1813C>T (p.Gln605Ter)
c.*5022C>T (n.*5022C>T)
c.169C>T (p.Gln57Ter)
c.712C>T (p.Gln238Ter)
c.-98-6900C>T (n.-98-6900C>T)
n.5375C>T
n.5416C>T
 ClinVar dbSNP gnomAD v4
17g.43057090G>CCA10591063BRCA1c.5236C>G (p.Gln1746Glu)
c.5239C>G (p.Gln1747Glu)
c.5113C>G (p.Gln1705Glu)
c.5233C>G (p.Gln1745Glu)
c.5161C>G (p.Gln1721Glu)
c.1927C>G (p.Gln643Glu)
c.1789C>G (p.Gln597Glu)
c.4351C>G (p.Gln1451Glu)
c.5116C>G (p.Gln1706Glu)
c.5305C>G (p.Gln1769Glu)
c.5098C>G (p.Gln1700Glu)
c.1801C>G (p.Gln601Glu)
c.5302C>G (p.Gln1768Glu)
c.1626C>G
c.1813C>G (p.Gln605Glu)
c.*5022C>G (n.*5022C>G)
c.169C>G (p.Gln57Glu)
c.712C>G (p.Gln238Glu)
c.-98-6900C>G (n.-98-6900C>G)
n.5375C>G
n.5416C>G
 ClinVar dbSNP
17g.43057090G=CA2260766412BRCA1c.5236C= (p.Gln1746=)
c.5239C= (p.Gln1747=)
c.5113C= (p.Gln1705=)
c.5233C= (p.Gln1745=)
c.5161C= (p.Gln1721=)
c.1927C= (p.Gln643=)
c.1789C= (p.Gln597=)
c.4351C= (p.Gln1451=)
c.5116C= (p.Gln1706=)
c.5305C= (p.Gln1769=)
c.5098C= (p.Gln1700=)
c.1801C= (p.Gln601=)
c.5302C= (p.Gln1768=)
c.1626C=
c.1813C= (p.Gln605=)
c.*5022C= (n.*5022C=)
c.169C= (p.Gln57=)
c.712C= (p.Gln238=)
c.-98-6900C= (n.-98-6900C=)
n.5375C=
n.5416C=
17g.43057090G>TCA10591064BRCA1c.5236C>A (p.Gln1746Lys)
c.5239C>A (p.Gln1747Lys)
c.5113C>A (p.Gln1705Lys)
c.5233C>A (p.Gln1745Lys)
c.5161C>A (p.Gln1721Lys)
c.1927C>A (p.Gln643Lys)
c.1789C>A (p.Gln597Lys)
c.4351C>A (p.Gln1451Lys)
c.5116C>A (p.Gln1706Lys)
c.5305C>A (p.Gln1769Lys)
c.5098C>A (p.Gln1700Lys)
c.1801C>A (p.Gln601Lys)
c.5302C>A (p.Gln1768Lys)
c.1626C>A
c.1813C>A (p.Gln605Lys)
c.*5022C>A (n.*5022C>A)
c.169C>A (p.Gln57Lys)
c.712C>A (p.Gln238Lys)
c.-98-6900C>A (n.-98-6900C>A)
n.5375C>A
n.5416C>A
 ClinVar dbSNP
17g.43057091dupCA10589606BRCA1c.5236dup (p.Gln1746ProfsTer?)
c.5239dup (p.Gln1747ProfsTer?)
c.5113dup (p.Gln1705ProfsTer?)
c.5233dup (p.Gln1745ProfsTer?)
c.5161dup (p.Gln1721ProfsTer?)
c.1927dup (p.Gln643ProfsTer?)
c.1789dup (p.Gln597ProfsTer?)
c.4351dup (p.Gln1451ProfsTer?)
c.5116dup (p.Gln1706ProfsTer?)
c.5305dup (p.Gln1769ProfsTer?)
c.5098dup (p.Gln1700ProfsTer?)
c.1801dup (p.Gln601ProfsTer?)
c.5302dup (p.Gln1768ProfsTer?)
c.1626dup
c.1813dup (p.Gln605ProfsTer?)
c.*5022dup (n.*5022dup)
c.169dup (p.Gln57ProfsTer?)
c.712dup (p.Gln238ProfsTer?)
c.-98-6900dup (n.-98-6900dup)
n.5375dup
n.5416dup
 ClinVar dbSNP
17g.43057091delCA10589605BRCA1c.5236del (p.Gln1746LysfsTer18)
c.5239del (p.Gln1747LysfsTer18)
c.5113del (p.Gln1705LysfsTer18)
c.5233del (p.Gln1745LysfsTer18)
c.5161del (p.Gln1721LysfsTer18)
c.1927del (p.Gln643LysfsTer18)
c.1789del (p.Gln597LysfsTer18)
c.4351del (p.Gln1451LysfsTer18)
c.5116del (p.Gln1706LysfsTer18)
c.5305del (p.Gln1769LysfsTer18)
c.5098del (p.Gln1700LysfsTer18)
c.1801del (p.Gln601LysfsTer18)
c.5302del (p.Gln1768LysfsTer18)
c.1626del
c.1813del (p.Gln605LysfsTer18)
c.*5022del (n.*5022del)
c.169del (p.Gln57LysfsTer18)
c.712del (p.Gln238LysfsTer18)
c.-98-6900del (n.-98-6900del)
n.5375del
n.5416del
 ClinVar dbSNP
17g.43057090_43057097delinsGGTGGTTTCA2260766413BRCA1c.5229_5236delinsAAACCACC (p.Arg1743=)
c.5232_5239delinsAAACCACC (p.Arg1744=)
c.5106_5113delinsAAACCACC (p.Arg1702=)
c.5226_5233delinsAAACCACC (p.Arg1742=)
c.5154_5161delinsAAACCACC (p.Arg1718=)
c.1920_1927delinsAAACCACC (p.Arg640=)
c.1782_1789delinsAAACCACC (p.Arg594=)
c.4344_4351delinsAAACCACC (p.Arg1448=)
c.5109_5116delinsAAACCACC (p.Arg1703=)
c.5298_5305delinsAAACCACC (p.Arg1766=)
c.5091_5098delinsAAACCACC (p.Arg1697=)
c.1794_1801delinsAAACCACC (p.Arg598=)
c.5295_5302delinsAAACCACC (p.Arg1765=)
c.1619_1626delinsAAACCACC
c.1806_1813delinsAAACCACC (p.Arg602=)
c.*5015_*5022delinsAAACCACC (n.*5015_*5022delinsAAACCACC)
c.162_169delinsAAACCACC (p.Arg54=)
c.705_712delinsAAACCACC (p.Arg235=)
c.-98-6907_-98-6900delinsAAACCACC (n.-98-6907_-98-6900delinsAAACCACC)
n.5368_5375delinsAAACCACC
n.5409_5416delinsAAACCACC
17g.43057091G>ACA500144684BRCA1c.5235C>T (p.His1745=)
c.5238C>T (p.His1746=)
c.5112C>T (p.His1704=)
c.5232C>T (p.His1744=)
c.5160C>T (p.His1720=)
c.1926C>T (p.His642=)
c.1788C>T (p.His596=)
c.4350C>T (p.His1450=)
c.5115C>T (p.His1705=)
c.5304C>T (p.His1768=)
c.5097C>T (p.His1699=)
c.1800C>T (p.His600=)
c.5301C>T (p.His1767=)
c.1625C>T
c.1812C>T (p.His604=)
c.*5021C>T (n.*5021C>T)
c.168C>T (p.His56=)
c.711C>T (p.His237=)
c.-98-6901C>T (n.-98-6901C>T)
n.5374C>T
n.5415C>T
 ClinVar dbSNP
17g.43057091G>CCA003378BRCA1c.5235C>G (p.His1745Gln)
c.5238C>G (p.His1746Gln)
c.5112C>G (p.His1704Gln)
c.5232C>G (p.His1744Gln)
c.5160C>G (p.His1720Gln)
c.1926C>G (p.His642Gln)
c.1788C>G (p.His596Gln)
c.4350C>G (p.His1450Gln)
c.5115C>G (p.His1705Gln)
c.5304C>G (p.His1768Gln)
c.5097C>G (p.His1699Gln)
c.1800C>G (p.His600Gln)
c.5301C>G (p.His1767Gln)
c.1625C>G
c.1812C>G (p.His604Gln)
c.*5021C>G (n.*5021C>G)
c.168C>G (p.His56Gln)
c.711C>G (p.His237Gln)
c.-98-6901C>G (n.-98-6901C>G)
n.5374C>G
n.5415C>G
 ClinVar dbSNP
17g.43057091G=CA2260766416BRCA1c.5235C= (p.His1745=)
c.5238C= (p.His1746=)
c.5112C= (p.His1704=)
c.5232C= (p.His1744=)
c.5160C= (p.His1720=)
c.1926C= (p.His642=)
c.1788C= (p.His596=)
c.4350C= (p.His1450=)
c.5115C= (p.His1705=)
c.5304C= (p.His1768=)
c.5097C= (p.His1699=)
c.1800C= (p.His600=)
c.5301C= (p.His1767=)
c.1625C=
c.1812C= (p.His604=)
c.*5021C= (n.*5021C=)
c.168C= (p.His56=)
c.711C= (p.His237=)
c.-98-6901C= (n.-98-6901C=)
n.5374C=
n.5415C=
17g.43057091G>TCA10591065BRCA1c.5235C>A (p.His1745Gln)
c.5238C>A (p.His1746Gln)
c.5112C>A (p.His1704Gln)
c.5232C>A (p.His1744Gln)
c.5160C>A (p.His1720Gln)
c.1926C>A (p.His642Gln)
c.1788C>A (p.His596Gln)
c.4350C>A (p.His1450Gln)
c.5115C>A (p.His1705Gln)
c.5304C>A (p.His1768Gln)
c.5097C>A (p.His1699Gln)
c.1800C>A (p.His600Gln)
c.5301C>A (p.His1767Gln)
c.1625C>A
c.1812C>A (p.His604Gln)
c.*5021C>A (n.*5021C>A)
c.168C>A (p.His56Gln)
c.711C>A (p.His237Gln)
c.-98-6901C>A (n.-98-6901C>A)
n.5374C>A
n.5415C>A
 ClinVar dbSNP
17g.43057091_43057092delinsGTCA2260766414BRCA1c.5234_5235delinsAC (p.His1745=)
c.5237_5238delinsAC (p.His1746=)
c.5111_5112delinsAC (p.His1704=)
c.5231_5232delinsAC (p.His1744=)
c.5159_5160delinsAC (p.His1720=)
c.1925_1926delinsAC (p.His642=)
c.1787_1788delinsAC (p.His596=)
c.4349_4350delinsAC (p.His1450=)
c.5114_5115delinsAC (p.His1705=)
c.5303_5304delinsAC (p.His1768=)
c.5096_5097delinsAC (p.His1699=)
c.1799_1800delinsAC (p.His600=)
c.5300_5301delinsAC (p.His1767=)
c.1624_1625delinsAC
c.1811_1812delinsAC (p.His604=)
c.*5020_*5021delinsAC (n.*5020_*5021delinsAC)
c.167_168delinsAC (p.His56=)
c.710_711delinsAC (p.His237=)
c.-98-6902_-98-6901delinsAC (n.-98-6902_-98-6901delinsAC)
n.5373_5374delinsAC
n.5414_5415delinsAC
17g.43057091_43057097delinsCTCGCTTTGGACCA658656663BRCA1c.5229_5235delinsGTCCAAAGCGAG (p.Asn1744SerfsTer22)
c.5232_5238delinsGTCCAAAGCGAG (p.Asn1745SerfsTer22)
c.5106_5112delinsGTCCAAAGCGAG (p.Asn1703SerfsTer22)
c.5226_5232delinsGTCCAAAGCGAG (p.Asn1743SerfsTer22)
c.5154_5160delinsGTCCAAAGCGAG (p.Asn1719SerfsTer22)
c.1920_1926delinsGTCCAAAGCGAG (p.Asn641SerfsTer22)
c.1782_1788delinsGTCCAAAGCGAG (p.Asn595SerfsTer22)
c.4344_4350delinsGTCCAAAGCGAG (p.Asn1449SerfsTer22)
c.5109_5115delinsGTCCAAAGCGAG (p.Asn1704SerfsTer22)
c.5298_5304delinsGTCCAAAGCGAG (p.Asn1767SerfsTer22)
c.5091_5097delinsGTCCAAAGCGAG (p.Asn1698SerfsTer22)
c.1794_1800delinsGTCCAAAGCGAG (p.Asn599SerfsTer22)
c.5295_5301delinsGTCCAAAGCGAG (p.Asn1766SerfsTer22)
c.1619_1625delinsGTCCAAAGCGAG
c.1806_1812delinsGTCCAAAGCGAG (p.Asn603SerfsTer22)
c.*5015_*5021delinsGTCCAAAGCGAG (n.*5015_*5021delinsGTCCAAAGCGAG)
c.162_168delinsGTCCAAAGCGAG (p.Asn55SerfsTer22)
c.705_711delinsGTCCAAAGCGAG (p.Asn236SerfsTer22)
c.-98-6907_-98-6901delinsGTCCAAAGCGAG (n.-98-6907_-98-6901delinsGTCCAAAGCGAG)
n.5368_5374delinsGTCCAAAGCGAG
n.5409_5415delinsGTCCAAAGCGAG
 ClinVar dbSNP
17g.43057091_43057097delinsTCTGCTTTGGACCA2499224370BRCA1c.5229_5235delinsGTCCAAAGCAGA (p.Asn1744SerfsTer22)
c.5232_5238delinsGTCCAAAGCAGA (p.Asn1745SerfsTer22)
c.5106_5112delinsGTCCAAAGCAGA (p.Asn1703SerfsTer22)
c.5226_5232delinsGTCCAAAGCAGA (p.Asn1743SerfsTer22)
c.5154_5160delinsGTCCAAAGCAGA (p.Asn1719SerfsTer22)
c.1920_1926delinsGTCCAAAGCAGA (p.Asn641SerfsTer22)
c.1782_1788delinsGTCCAAAGCAGA (p.Asn595SerfsTer22)
c.4344_4350delinsGTCCAAAGCAGA (p.Asn1449SerfsTer22)
c.5109_5115delinsGTCCAAAGCAGA (p.Asn1704SerfsTer22)
c.5298_5304delinsGTCCAAAGCAGA (p.Asn1767SerfsTer22)
c.5091_5097delinsGTCCAAAGCAGA (p.Asn1698SerfsTer22)
c.1794_1800delinsGTCCAAAGCAGA (p.Asn599SerfsTer22)
c.5295_5301delinsGTCCAAAGCAGA (p.Asn1766SerfsTer22)
c.1619_1625delinsGTCCAAAGCAGA
c.1806_1812delinsGTCCAAAGCAGA (p.Asn603SerfsTer22)
c.*5015_*5021delinsGTCCAAAGCAGA (n.*5015_*5021delinsGTCCAAAGCAGA)
c.162_168delinsGTCCAAAGCAGA (p.Asn55SerfsTer22)
c.705_711delinsGTCCAAAGCAGA (p.Asn236SerfsTer22)
c.-98-6907_-98-6901delinsGTCCAAAGCAGA (n.-98-6907_-98-6901delinsGTCCAAAGCAGA)
n.5368_5374delinsGTCCAAAGCAGA
n.5409_5415delinsGTCCAAAGCAGA
17g.43057091_43057099delinsGTGGTTTCTCA2260766415BRCA1c.5227_5235delinsAGAAACCAC (p.Arg1743=)
c.5230_5238delinsAGAAACCAC (p.Arg1744=)
c.5104_5112delinsAGAAACCAC (p.Arg1702=)
c.5224_5232delinsAGAAACCAC (p.Arg1742=)
c.5152_5160delinsAGAAACCAC (p.Arg1718=)
c.1918_1926delinsAGAAACCAC (p.Arg640=)
c.1780_1788delinsAGAAACCAC (p.Arg594=)
c.4342_4350delinsAGAAACCAC (p.Arg1448=)
c.5107_5115delinsAGAAACCAC (p.Arg1703=)
c.5296_5304delinsAGAAACCAC (p.Arg1766=)
c.5089_5097delinsAGAAACCAC (p.Arg1697=)
c.1792_1800delinsAGAAACCAC (p.Arg598=)
c.5293_5301delinsAGAAACCAC (p.Arg1765=)
c.1617_1625delinsAGAAACCAC
c.1804_1812delinsAGAAACCAC (p.Arg602=)
c.*5013_*5021delinsAGAAACCAC (n.*5013_*5021delinsAGAAACCAC)
c.160_168delinsAGAAACCAC (p.Arg54=)
c.703_711delinsAGAAACCAC (p.Arg235=)
c.-98-6909_-98-6901delinsAGAAACCAC (n.-98-6909_-98-6901delinsAGAAACCAC)
n.5366_5374delinsAGAAACCAC
n.5407_5415delinsAGAAACCAC
17g.43057092delCA658824714BRCA1c.5234del (p.His1745ProfsTer19)
c.5237del (p.His1746ProfsTer19)
c.5111del (p.His1704ProfsTer19)
c.5231del (p.His1744ProfsTer19)
c.5159del (p.His1720ProfsTer19)
c.1925del (p.His642ProfsTer19)
c.1787del (p.His596ProfsTer19)
c.4349del (p.His1450ProfsTer19)
c.5114del (p.His1705ProfsTer19)
c.5303del (p.His1768ProfsTer19)
c.5096del (p.His1699ProfsTer19)
c.1799del (p.His600ProfsTer19)
c.5300del (p.His1767ProfsTer19)
c.1624del
c.1811del (p.His604ProfsTer19)
c.*5020del (n.*5020del)
c.167del (p.His56ProfsTer19)
c.710del (p.His237ProfsTer19)
c.-98-6902del (n.-98-6902del)
n.5373del
n.5414del
 ClinVar dbSNP
17g.43057092T>ACA10591066BRCA1c.5234A>T (p.His1745Leu)
c.5237A>T (p.His1746Leu)
c.5111A>T (p.His1704Leu)
c.5231A>T (p.His1744Leu)
c.5159A>T (p.His1720Leu)
c.1925A>T (p.His642Leu)
c.1787A>T (p.His596Leu)
c.4349A>T (p.His1450Leu)
c.5114A>T (p.His1705Leu)
c.5303A>T (p.His1768Leu)
c.5096A>T (p.His1699Leu)
c.1799A>T (p.His600Leu)
c.5300A>T (p.His1767Leu)
c.1624A>T
c.1811A>T (p.His604Leu)
c.*5020A>T (n.*5020A>T)
c.167A>T (p.His56Leu)
c.710A>T (p.His237Leu)
c.-98-6902A>T (n.-98-6902A>T)
n.5373A>T
n.5414A>T
 ClinVar dbSNP
17g.43057092T>CCA10591067BRCA1c.5234A>G (p.His1745Arg)
c.5237A>G (p.His1746Arg)
c.5111A>G (p.His1704Arg)
c.5231A>G (p.His1744Arg)
c.5159A>G (p.His1720Arg)
c.1925A>G (p.His642Arg)
c.1787A>G (p.His596Arg)
c.4349A>G (p.His1450Arg)
c.5114A>G (p.His1705Arg)
c.5303A>G (p.His1768Arg)
c.5096A>G (p.His1699Arg)
c.1799A>G (p.His600Arg)
c.5300A>G (p.His1767Arg)
c.1624A>G
c.1811A>G (p.His604Arg)
c.*5020A>G (n.*5020A>G)
c.167A>G (p.His56Arg)
c.710A>G (p.His237Arg)
c.-98-6902A>G (n.-98-6902A>G)
n.5373A>G
n.5414A>G
 ClinVar dbSNP
17g.43057092T>GCA10580491BRCA1c.5234A>C (p.His1745Pro)
c.5237A>C (p.His1746Pro)
c.5111A>C (p.His1704Pro)
c.5231A>C (p.His1744Pro)
c.5159A>C (p.His1720Pro)
c.1925A>C (p.His642Pro)
c.1787A>C (p.His596Pro)
c.4349A>C (p.His1450Pro)
c.5114A>C (p.His1705Pro)
c.5303A>C (p.His1768Pro)
c.5096A>C (p.His1699Pro)
c.1799A>C (p.His600Pro)
c.5300A>C (p.His1767Pro)
c.1624A>C
c.1811A>C (p.His604Pro)
c.*5020A>C (n.*5020A>C)
c.167A>C (p.His56Pro)
c.710A>C (p.His237Pro)
c.-98-6902A>C (n.-98-6902A>C)
n.5373A>C
n.5414A>C
 ClinVar dbSNP
17g.43057092T=CA2260766418BRCA1c.5234A= (p.His1745=)
c.5237A= (p.His1746=)
c.5111A= (p.His1704=)
c.5231A= (p.His1744=)
c.5159A= (p.His1720=)
c.1925A= (p.His642=)
c.1787A= (p.His596=)
c.4349A= (p.His1450=)
c.5114A= (p.His1705=)
c.5303A= (p.His1768=)
c.5096A= (p.His1699=)
c.1799A= (p.His600=)
c.5300A= (p.His1767=)
c.1624A=
c.1811A= (p.His604=)
c.*5020A= (n.*5020A=)
c.167A= (p.His56=)
c.710A= (p.His237=)
c.-98-6902A= (n.-98-6902A=)
n.5373A=
n.5414A=
17g.43057092_43057093delinsTGCA2260766417BRCA1c.5233_5234delinsCA (p.His1745=)
c.5236_5237delinsCA (p.His1746=)
c.5110_5111delinsCA (p.His1704=)
c.5230_5231delinsCA (p.His1744=)
c.5158_5159delinsCA (p.His1720=)
c.1924_1925delinsCA (p.His642=)
c.1786_1787delinsCA (p.His596=)
c.4348_4349delinsCA (p.His1450=)
c.5113_5114delinsCA (p.His1705=)
c.5302_5303delinsCA (p.His1768=)
c.5095_5096delinsCA (p.His1699=)
c.1798_1799delinsCA (p.His600=)
c.5299_5300delinsCA (p.His1767=)
c.1623_1624delinsCA
c.1810_1811delinsCA (p.His604=)
c.*5019_*5020delinsCA (n.*5019_*5020delinsCA)
c.166_167delinsCA (p.His56=)
c.709_710delinsCA (p.His237=)
c.-98-6903_-98-6902delinsCA (n.-98-6903_-98-6902delinsCA)
n.5372_5373delinsCA
n.5413_5414delinsCA
17g.43057093_43057100delCA10589607BRCA1c.5227_5234del (p.Arg1743ProfsTer?)
c.5230_5237del (p.Arg1744ProfsTer?)
c.5104_5111del (p.Arg1702ProfsTer?)
c.5224_5231del (p.Arg1742ProfsTer?)
c.5152_5159del (p.Arg1718ProfsTer?)
c.1918_1925del (p.Arg640ProfsTer?)
c.1780_1787del (p.Arg594ProfsTer?)
c.4342_4349del (p.Arg1448ProfsTer?)
c.5107_5114del (p.Arg1703ProfsTer?)
c.5296_5303del (p.Arg1766ProfsTer?)
c.5089_5096del (p.Arg1697ProfsTer?)
c.1792_1799del (p.Arg598ProfsTer?)
c.5293_5300del (p.Arg1765ProfsTer?)
c.1617_1624del
c.1804_1811del (p.Arg602ProfsTer?)
c.*5013_*5020del (n.*5013_*5020del)
c.160_167del (p.Arg54ProfsTer?)
c.703_710del (p.Arg235ProfsTer?)
c.-98-6909_-98-6902del (n.-98-6909_-98-6902del)
n.5366_5373del
n.5407_5414del
 ClinVar dbSNP
17g.43057093G>ACA10591068BRCA1c.5233C>T (p.His1745Tyr)
c.5236C>T (p.His1746Tyr)
c.5110C>T (p.His1704Tyr)
c.5230C>T (p.His1744Tyr)
c.5158C>T (p.His1720Tyr)
c.1924C>T (p.His642Tyr)
c.1786C>T (p.His596Tyr)
c.4348C>T (p.His1450Tyr)
c.5113C>T (p.His1705Tyr)
c.5302C>T (p.His1768Tyr)
c.5095C>T (p.His1699Tyr)
c.1798C>T (p.His600Tyr)
c.5299C>T (p.His1767Tyr)
c.1623C>T
c.1810C>T (p.His604Tyr)
c.*5019C>T (n.*5019C>T)
c.166C>T (p.His56Tyr)
c.709C>T (p.His237Tyr)
c.-98-6903C>T (n.-98-6903C>T)
n.5372C>T
n.5413C>T
 ClinVar dbSNP
17g.43057093G>CCA10591069BRCA1c.5233C>G (p.His1745Asp)
c.5236C>G (p.His1746Asp)
c.5110C>G (p.His1704Asp)
c.5230C>G (p.His1744Asp)
c.5158C>G (p.His1720Asp)
c.1924C>G (p.His642Asp)
c.1786C>G (p.His596Asp)
c.4348C>G (p.His1450Asp)
c.5113C>G (p.His1705Asp)
c.5302C>G (p.His1768Asp)
c.5095C>G (p.His1699Asp)
c.1798C>G (p.His600Asp)
c.5299C>G (p.His1767Asp)
c.1623C>G
c.1810C>G (p.His604Asp)
c.*5019C>G (n.*5019C>G)
c.166C>G (p.His56Asp)
c.709C>G (p.His237Asp)
c.-98-6903C>G (n.-98-6903C>G)
n.5372C>G
n.5413C>G
 ClinVar dbSNP
17g.43057093G=CA2260766419BRCA1c.5233C= (p.His1745=)
c.5236C= (p.His1746=)
c.5110C= (p.His1704=)
c.5230C= (p.His1744=)
c.5158C= (p.His1720=)
c.1924C= (p.His642=)
c.1786C= (p.His596=)
c.4348C= (p.His1450=)
c.5113C= (p.His1705=)
c.5302C= (p.His1768=)
c.5095C= (p.His1699=)
c.1798C= (p.His600=)
c.5299C= (p.His1767=)
c.1623C=
c.1810C= (p.His604=)
c.*5019C= (n.*5019C=)
c.166C= (p.His56=)
c.709C= (p.His237=)
c.-98-6903C= (n.-98-6903C=)
n.5372C=
n.5413C=
17g.43057093G>TCA003376BRCA1c.5233C>A (p.His1745Asn)
c.5236C>A (p.His1746Asn)
c.5110C>A (p.His1704Asn)
c.5230C>A (p.His1744Asn)
c.5158C>A (p.His1720Asn)
c.1924C>A (p.His642Asn)
c.1786C>A (p.His596Asn)
c.4348C>A (p.His1450Asn)
c.5113C>A (p.His1705Asn)
c.5302C>A (p.His1768Asn)
c.5095C>A (p.His1699Asn)
c.1798C>A (p.His600Asn)
c.5299C>A (p.His1767Asn)
c.1623C>A
c.1810C>A (p.His604Asn)
c.*5019C>A (n.*5019C>A)
c.166C>A (p.His56Asn)
c.709C>A (p.His237Asn)
c.-98-6903C>A (n.-98-6903C>A)
n.5372C>A
n.5413C>A
 ClinVar dbSNP gnomAD v4
17g.43057094delCA10580492BRCA1c.5233del (p.His1745ThrfsTer19)
c.5236del (p.His1746ThrfsTer19)
c.5110del (p.His1704ThrfsTer19)
c.5230del (p.His1744ThrfsTer19)
c.5158del (p.His1720ThrfsTer19)
c.1924del (p.His642ThrfsTer19)
c.1786del (p.His596ThrfsTer19)
c.4348del (p.His1450ThrfsTer19)
c.5113del (p.His1705ThrfsTer19)
c.5302del (p.His1768ThrfsTer19)
c.5095del (p.His1699ThrfsTer19)
c.1798del (p.His600ThrfsTer19)
c.5299del (p.His1767ThrfsTer19)
c.1623del
c.1810del (p.His604ThrfsTer19)
c.*5019del (n.*5019del)
c.166del (p.His56ThrfsTer19)
c.709del (p.His237ThrfsTer19)
c.-98-6903del (n.-98-6903del)
n.5372del
n.5413del
 ClinVar dbSNP
17g.43057093_43057145dupCA658684094BRCA1c.5191-10_5233dup
c.5194-10_5236dup
c.5068-10_5110dup
c.5188-10_5230dup
c.5116-10_5158dup
c.1882-10_1924dup
c.1744-10_1786dup
c.4306-10_4348dup
c.5071-10_5113dup
c.5260-10_5302dup
c.5053-10_5095dup
c.1756-10_1798dup
c.5257-10_5299dup
c.1581-10_1623dup
c.1768-10_1810dup
c.*4977-10_*5019dup
c.124-10_166dup
c.667-10_709dup
c.-98-6955_-98-6903dup (n.-98-6955_-98-6903dup)
n.5330-10_5372dup
n.5371-10_5413dup
 ClinVar dbSNP
17g.43057094G>ACA500144702BRCA1c.5232C>T (p.Asn1744=)
c.5235C>T (p.Asn1745=)
c.5109C>T (p.Asn1703=)
c.5229C>T (p.Asn1743=)
c.5157C>T (p.Asn1719=)
c.1923C>T (p.Asn641=)
c.1785C>T (p.Asn595=)
c.4347C>T (p.Asn1449=)
c.5112C>T (p.Asn1704=)
c.5301C>T (p.Asn1767=)
c.5094C>T (p.Asn1698=)
c.1797C>T (p.Asn599=)
c.5298C>T (p.Asn1766=)
c.1622C>T
c.1809C>T (p.Asn603=)
c.*5018C>T (n.*5018C>T)
c.165C>T (p.Asn55=)
c.708C>T (p.Asn236=)
c.-98-6904C>T (n.-98-6904C>T)
n.5371C>T
n.5412C>T
 ClinVar dbSNP
17g.43057094G>CCA10591070BRCA1c.5232C>G (p.Asn1744Lys)
c.5235C>G (p.Asn1745Lys)
c.5109C>G (p.Asn1703Lys)
c.5229C>G (p.Asn1743Lys)
c.5157C>G (p.Asn1719Lys)
c.1923C>G (p.Asn641Lys)
c.1785C>G (p.Asn595Lys)
c.4347C>G (p.Asn1449Lys)
c.5112C>G (p.Asn1704Lys)
c.5301C>G (p.Asn1767Lys)
c.5094C>G (p.Asn1698Lys)
c.1797C>G (p.Asn599Lys)
c.5298C>G (p.Asn1766Lys)
c.1622C>G
c.1809C>G (p.Asn603Lys)
c.*5018C>G (n.*5018C>G)
c.165C>G (p.Asn55Lys)
c.708C>G (p.Asn236Lys)
c.-98-6904C>G (n.-98-6904C>G)
n.5371C>G
n.5412C>G
 ClinVar dbSNP
17g.43057094G=CA2260766420BRCA1c.5232C= (p.Asn1744=)
c.5235C= (p.Asn1745=)
c.5109C= (p.Asn1703=)
c.5229C= (p.Asn1743=)
c.5157C= (p.Asn1719=)
c.1923C= (p.Asn641=)
c.1785C= (p.Asn595=)
c.4347C= (p.Asn1449=)
c.5112C= (p.Asn1704=)
c.5301C= (p.Asn1767=)
c.5094C= (p.Asn1698=)
c.1797C= (p.Asn599=)
c.5298C= (p.Asn1766=)
c.1622C=
c.1809C= (p.Asn603=)
c.*5018C= (n.*5018C=)
c.165C= (p.Asn55=)
c.708C= (p.Asn236=)
c.-98-6904C= (n.-98-6904C=)
n.5371C=
n.5412C=
17g.43057094G>TCA10591071BRCA1c.5232C>A (p.Asn1744Lys)
c.5235C>A (p.Asn1745Lys)
c.5109C>A (p.Asn1703Lys)
c.5229C>A (p.Asn1743Lys)
c.5157C>A (p.Asn1719Lys)
c.1923C>A (p.Asn641Lys)
c.1785C>A (p.Asn595Lys)
c.4347C>A (p.Asn1449Lys)
c.5112C>A (p.Asn1704Lys)
c.5301C>A (p.Asn1767Lys)
c.5094C>A (p.Asn1698Lys)
c.1797C>A (p.Asn599Lys)
c.5298C>A (p.Asn1766Lys)
c.1622C>A
c.1809C>A (p.Asn603Lys)
c.*5018C>A (n.*5018C>A)
c.165C>A (p.Asn55Lys)
c.708C>A (p.Asn236Lys)
c.-98-6904C>A (n.-98-6904C>A)
n.5371C>A
n.5412C>A
 ClinVar dbSNP
17g.43057095T>ACA10591072BRCA1c.5231A>T (p.Asn1744Ile)
c.5234A>T (p.Asn1745Ile)
c.5108A>T (p.Asn1703Ile)
c.5228A>T (p.Asn1743Ile)
c.5156A>T (p.Asn1719Ile)
c.1922A>T (p.Asn641Ile)
c.1784A>T (p.Asn595Ile)
c.4346A>T (p.Asn1449Ile)
c.5111A>T (p.Asn1704Ile)
c.5300A>T (p.Asn1767Ile)
c.5093A>T (p.Asn1698Ile)
c.1796A>T (p.Asn599Ile)
c.5297A>T (p.Asn1766Ile)
c.1621A>T
c.1808A>T (p.Asn603Ile)
c.*5017A>T (n.*5017A>T)
c.164A>T (p.Asn55Ile)
c.707A>T (p.Asn236Ile)
c.-98-6905A>T (n.-98-6905A>T)
n.5370A>T
n.5411A>T
 ClinVar dbSNP
17g.43057095T>CCA10591073BRCA1c.5231A>G (p.Asn1744Ser)
c.5234A>G (p.Asn1745Ser)
c.5108A>G (p.Asn1703Ser)
c.5228A>G (p.Asn1743Ser)
c.5156A>G (p.Asn1719Ser)
c.1922A>G (p.Asn641Ser)
c.1784A>G (p.Asn595Ser)
c.4346A>G (p.Asn1449Ser)
c.5111A>G (p.Asn1704Ser)
c.5300A>G (p.Asn1767Ser)
c.5093A>G (p.Asn1698Ser)
c.1796A>G (p.Asn599Ser)
c.5297A>G (p.Asn1766Ser)
c.1621A>G
c.1808A>G (p.Asn603Ser)
c.*5017A>G (n.*5017A>G)
c.164A>G (p.Asn55Ser)
c.707A>G (p.Asn236Ser)
c.-98-6905A>G (n.-98-6905A>G)
n.5370A>G
n.5411A>G
 ClinVar dbSNP
17g.43057095T>GCA10591074BRCA1c.5231A>C (p.Asn1744Thr)
c.5234A>C (p.Asn1745Thr)
c.5108A>C (p.Asn1703Thr)
c.5228A>C (p.Asn1743Thr)
c.5156A>C (p.Asn1719Thr)
c.1922A>C (p.Asn641Thr)
c.1784A>C (p.Asn595Thr)
c.4346A>C (p.Asn1449Thr)
c.5111A>C (p.Asn1704Thr)
c.5300A>C (p.Asn1767Thr)
c.5093A>C (p.Asn1698Thr)
c.1796A>C (p.Asn599Thr)
c.5297A>C (p.Asn1766Thr)
c.1621A>C
c.1808A>C (p.Asn603Thr)
c.*5017A>C (n.*5017A>C)
c.164A>C (p.Asn55Thr)
c.707A>C (p.Asn236Thr)
c.-98-6905A>C (n.-98-6905A>C)
n.5370A>C
n.5411A>C
 ClinVar dbSNP
17g.43057095T=CA2260766421BRCA1c.5231A= (p.Asn1744=)
c.5234A= (p.Asn1745=)
c.5108A= (p.Asn1703=)
c.5228A= (p.Asn1743=)
c.5156A= (p.Asn1719=)
c.1922A= (p.Asn641=)
c.1784A= (p.Asn595=)
c.4346A= (p.Asn1449=)
c.5111A= (p.Asn1704=)
c.5300A= (p.Asn1767=)
c.5093A= (p.Asn1698=)
c.1796A= (p.Asn599=)
c.5297A= (p.Asn1766=)
c.1621A=
c.1808A= (p.Asn603=)
c.*5017A= (n.*5017A=)
c.164A= (p.Asn55=)
c.707A= (p.Asn236=)
c.-98-6905A= (n.-98-6905A=)
n.5370A=
n.5411A=
17g.43057097dupCA10586602BRCA1c.5231dup (p.Asn1744LysfsTer?)
c.5234dup (p.Asn1745LysfsTer?)
c.5108dup (p.Asn1703LysfsTer?)
c.5228dup (p.Asn1743LysfsTer?)
c.5156dup (p.Asn1719LysfsTer?)
c.1922dup (p.Asn641LysfsTer?)
c.1784dup (p.Asn595LysfsTer?)
c.4346dup (p.Asn1449LysfsTer?)
c.5111dup (p.Asn1704LysfsTer?)
c.5300dup (p.Asn1767LysfsTer?)
c.5093dup (p.Asn1698LysfsTer?)
c.1796dup (p.Asn599LysfsTer?)
c.5297dup (p.Asn1766LysfsTer?)
c.1621dup
c.1808dup (p.Asn603LysfsTer?)
c.*5017dup (n.*5017dup)
c.164dup (p.Asn55LysfsTer?)
c.707dup (p.Asn236LysfsTer?)
c.-98-6905dup (n.-98-6905dup)
n.5370dup
n.5411dup
 ClinVar dbSNP
17g.43057097delCA2586963913BRCA1c.5231del (p.Asn1744ThrfsTer20)
c.5234del (p.Asn1745ThrfsTer20)
c.5108del (p.Asn1703ThrfsTer20)
c.5228del (p.Asn1743ThrfsTer20)
c.5156del (p.Asn1719ThrfsTer20)
c.1922del (p.Asn641ThrfsTer20)
c.1784del (p.Asn595ThrfsTer20)
c.4346del (p.Asn1449ThrfsTer20)
c.5111del (p.Asn1704ThrfsTer20)
c.5300del (p.Asn1767ThrfsTer20)
c.5093del (p.Asn1698ThrfsTer20)
c.1796del (p.Asn599ThrfsTer20)
c.5297del (p.Asn1766ThrfsTer20)
c.1621del
c.1808del (p.Asn603ThrfsTer20)
c.*5017del (n.*5017del)
c.164del (p.Asn55ThrfsTer20)
c.707del (p.Asn236ThrfsTer20)
c.-98-6905del (n.-98-6905del)
n.5370del
n.5411del
17g.43057096T>ACA10591075BRCA1c.5230A>T (p.Asn1744Tyr)
c.5233A>T (p.Asn1745Tyr)
c.5107A>T (p.Asn1703Tyr)
c.5227A>T (p.Asn1743Tyr)
c.5155A>T (p.Asn1719Tyr)
c.1921A>T (p.Asn641Tyr)
c.1783A>T (p.Asn595Tyr)
c.4345A>T (p.Asn1449Tyr)
c.5110A>T (p.Asn1704Tyr)
c.5299A>T (p.Asn1767Tyr)
c.5092A>T (p.Asn1698Tyr)
c.1795A>T (p.Asn599Tyr)
c.5296A>T (p.Asn1766Tyr)
c.1620A>T
c.1807A>T (p.Asn603Tyr)
c.*5016A>T (n.*5016A>T)
c.163A>T (p.Asn55Tyr)
c.706A>T (p.Asn236Tyr)
c.-98-6906A>T (n.-98-6906A>T)
n.5369A>T
n.5410A>T
 ClinVar dbSNP
17g.43057096T>CCA10591076BRCA1c.5230A>G (p.Asn1744Asp)
c.5233A>G (p.Asn1745Asp)
c.5107A>G (p.Asn1703Asp)
c.5227A>G (p.Asn1743Asp)
c.5155A>G (p.Asn1719Asp)
c.1921A>G (p.Asn641Asp)
c.1783A>G (p.Asn595Asp)
c.4345A>G (p.Asn1449Asp)
c.5110A>G (p.Asn1704Asp)
c.5299A>G (p.Asn1767Asp)
c.5092A>G (p.Asn1698Asp)
c.1795A>G (p.Asn599Asp)
c.5296A>G (p.Asn1766Asp)
c.1620A>G
c.1807A>G (p.Asn603Asp)
c.*5016A>G (n.*5016A>G)
c.163A>G (p.Asn55Asp)
c.706A>G (p.Asn236Asp)
c.-98-6906A>G (n.-98-6906A>G)
n.5369A>G
n.5410A>G
 ClinVar dbSNP
17g.43057096T>GCA10591077BRCA1c.5230A>C (p.Asn1744His)
c.5233A>C (p.Asn1745His)
c.5107A>C (p.Asn1703His)
c.5227A>C (p.Asn1743His)
c.5155A>C (p.Asn1719His)
c.1921A>C (p.Asn641His)
c.1783A>C (p.Asn595His)
c.4345A>C (p.Asn1449His)
c.5110A>C (p.Asn1704His)
c.5299A>C (p.Asn1767His)
c.5092A>C (p.Asn1698His)
c.1795A>C (p.Asn599His)
c.5296A>C (p.Asn1766His)
c.1620A>C
c.1807A>C (p.Asn603His)
c.*5016A>C (n.*5016A>C)
c.163A>C (p.Asn55His)
c.706A>C (p.Asn236His)
c.-98-6906A>C (n.-98-6906A>C)
n.5369A>C
n.5410A>C
 ClinVar dbSNP
17g.43057096T=CA2260766422BRCA1c.5230A= (p.Asn1744=)
c.5233A= (p.Asn1745=)
c.5107A= (p.Asn1703=)
c.5227A= (p.Asn1743=)
c.5155A= (p.Asn1719=)
c.1921A= (p.Asn641=)
c.1783A= (p.Asn595=)
c.4345A= (p.Asn1449=)
c.5110A= (p.Asn1704=)
c.5299A= (p.Asn1767=)
c.5092A= (p.Asn1698=)
c.1795A= (p.Asn599=)
c.5296A= (p.Asn1766=)
c.1620A=
c.1807A= (p.Asn603=)
c.*5016A= (n.*5016A=)
c.163A= (p.Asn55=)
c.706A= (p.Asn236=)
c.-98-6906A= (n.-98-6906A=)
n.5369A=
n.5410A=
17g.43057097T>ACA10591078BRCA1c.5229A>T (p.Arg1743Ser)
c.5232A>T (p.Arg1744Ser)
c.5106A>T (p.Arg1702Ser)
c.5226A>T (p.Arg1742Ser)
c.5154A>T (p.Arg1718Ser)
c.1920A>T (p.Arg640Ser)
c.1782A>T (p.Arg594Ser)
c.4344A>T (p.Arg1448Ser)
c.5109A>T (p.Arg1703Ser)
c.5298A>T (p.Arg1766Ser)
c.5091A>T (p.Arg1697Ser)
c.1794A>T (p.Arg598Ser)
c.5295A>T (p.Arg1765Ser)
c.1619A>T
c.1806A>T (p.Arg602Ser)
c.*5015A>T (n.*5015A>T)
c.162A>T (p.Arg54Ser)
c.705A>T (p.Arg235Ser)
c.-98-6907A>T (n.-98-6907A>T)
n.5368A>T
n.5409A>T
 ClinVar dbSNP
17g.43057097T>CCA500144716BRCA1c.5229A>G (p.Arg1743=)
c.5232A>G (p.Arg1744=)
c.5106A>G (p.Arg1702=)
c.5226A>G (p.Arg1742=)
c.5154A>G (p.Arg1718=)
c.1920A>G (p.Arg640=)
c.1782A>G (p.Arg594=)
c.4344A>G (p.Arg1448=)
c.5109A>G (p.Arg1703=)
c.5298A>G (p.Arg1766=)
c.5091A>G (p.Arg1697=)
c.1794A>G (p.Arg598=)
c.5295A>G (p.Arg1765=)
c.1619A>G
c.1806A>G (p.Arg602=)
c.*5015A>G (n.*5015A>G)
c.162A>G (p.Arg54=)
c.705A>G (p.Arg235=)
c.-98-6907A>G (n.-98-6907A>G)
n.5368A>G
n.5409A>G
 ClinVar dbSNP
17g.43057097T>GCA10591079BRCA1c.5229A>C (p.Arg1743Ser)
c.5232A>C (p.Arg1744Ser)
c.5106A>C (p.Arg1702Ser)
c.5226A>C (p.Arg1742Ser)
c.5154A>C (p.Arg1718Ser)
c.1920A>C (p.Arg640Ser)
c.1782A>C (p.Arg594Ser)
c.4344A>C (p.Arg1448Ser)
c.5109A>C (p.Arg1703Ser)
c.5298A>C (p.Arg1766Ser)
c.5091A>C (p.Arg1697Ser)
c.1794A>C (p.Arg598Ser)
c.5295A>C (p.Arg1765Ser)
c.1619A>C
c.1806A>C (p.Arg602Ser)
c.*5015A>C (n.*5015A>C)
c.162A>C (p.Arg54Ser)
c.705A>C (p.Arg235Ser)
c.-98-6907A>C (n.-98-6907A>C)
n.5368A>C
n.5409A>C
 ClinVar dbSNP
17g.43057097T=CA2260766424BRCA1c.5229A= (p.Arg1743=)
c.5232A= (p.Arg1744=)
c.5106A= (p.Arg1702=)
c.5226A= (p.Arg1742=)
c.5154A= (p.Arg1718=)
c.1920A= (p.Arg640=)
c.1782A= (p.Arg594=)
c.4344A= (p.Arg1448=)
c.5109A= (p.Arg1703=)
c.5298A= (p.Arg1766=)
c.5091A= (p.Arg1697=)
c.1794A= (p.Arg598=)
c.5295A= (p.Arg1765=)
c.1619A=
c.1806A= (p.Arg602=)
c.*5015A= (n.*5015A=)
c.162A= (p.Arg54=)
c.705A= (p.Arg235=)
c.-98-6907A= (n.-98-6907A=)
n.5368A=
n.5409A=
17g.43057097_43057098delinsTCCA2260766423BRCA1c.5228_5229delinsGA (p.Arg1743=)
c.5231_5232delinsGA (p.Arg1744=)
c.5105_5106delinsGA (p.Arg1702=)
c.5225_5226delinsGA (p.Arg1742=)
c.5153_5154delinsGA (p.Arg1718=)
c.1919_1920delinsGA (p.Arg640=)
c.1781_1782delinsGA (p.Arg594=)
c.4343_4344delinsGA (p.Arg1448=)
c.5108_5109delinsGA (p.Arg1703=)
c.5297_5298delinsGA (p.Arg1766=)
c.5090_5091delinsGA (p.Arg1697=)
c.1793_1794delinsGA (p.Arg598=)
c.5294_5295delinsGA (p.Arg1765=)
c.1618_1619delinsGA
c.1805_1806delinsGA (p.Arg602=)
c.*5014_*5015delinsGA (n.*5014_*5015delinsGA)
c.161_162delinsGA (p.Arg54=)
c.704_705delinsGA (p.Arg235=)
c.-98-6908_-98-6907delinsGA (n.-98-6908_-98-6907delinsGA)
n.5367_5368delinsGA
n.5408_5409delinsGA
17g.43057098delCA003375BRCA1c.5228del (p.Arg1743LysfsTer21)
c.5231del (p.Arg1744LysfsTer21)
c.5105del (p.Arg1702LysfsTer21)
c.5225del (p.Arg1742LysfsTer21)
c.5153del (p.Arg1718LysfsTer21)
c.1919del (p.Arg640LysfsTer21)
c.1781del (p.Arg594LysfsTer21)
c.4343del (p.Arg1448LysfsTer21)
c.5108del (p.Arg1703LysfsTer21)
c.5297del (p.Arg1766LysfsTer21)
c.5090del (p.Arg1697LysfsTer21)
c.1793del (p.Arg598LysfsTer21)
c.5294del (p.Arg1765LysfsTer21)
c.1618del
c.1805del (p.Arg602LysfsTer21)
c.*5014del (n.*5014del)
c.161del (p.Arg54LysfsTer21)
c.704del (p.Arg235LysfsTer21)
c.-98-6908del (n.-98-6908del)
n.5367del
n.5408del
 ClinVar dbSNP
17g.43057098C>ACA10591080BRCA1c.5228G>T (p.Arg1743Ile)
c.5231G>T (p.Arg1744Ile)
c.5105G>T (p.Arg1702Ile)
c.5225G>T (p.Arg1742Ile)
c.5153G>T (p.Arg1718Ile)
c.1919G>T (p.Arg640Ile)
c.1781G>T (p.Arg594Ile)
c.4343G>T (p.Arg1448Ile)
c.5108G>T (p.Arg1703Ile)
c.5297G>T (p.Arg1766Ile)
c.5090G>T (p.Arg1697Ile)
c.1793G>T (p.Arg598Ile)
c.5294G>T (p.Arg1765Ile)
c.1618G>T
c.1805G>T (p.Arg602Ile)
c.*5014G>T (n.*5014G>T)
c.161G>T (p.Arg54Ile)
c.704G>T (p.Arg235Ile)
c.-98-6908G>T (n.-98-6908G>T)
n.5367G>T
n.5408G>T
 ClinVar dbSNP
17g.43057098C=CA2260766427BRCA1c.5228G= (p.Arg1743=)
c.5231G= (p.Arg1744=)
c.5105G= (p.Arg1702=)
c.5225G= (p.Arg1742=)
c.5153G= (p.Arg1718=)
c.1919G= (p.Arg640=)
c.1781G= (p.Arg594=)
c.4343G= (p.Arg1448=)
c.5108G= (p.Arg1703=)
c.5297G= (p.Arg1766=)
c.5090G= (p.Arg1697=)
c.1793G= (p.Arg598=)
c.5294G= (p.Arg1765=)
c.1618G=
c.1805G= (p.Arg602=)
c.*5014G= (n.*5014G=)
c.161G= (p.Arg54=)
c.704G= (p.Arg235=)
c.-98-6908G= (n.-98-6908G=)
n.5367G=
n.5408G=
17g.43057098C>GCA10591081BRCA1c.5228G>C (p.Arg1743Thr)
c.5231G>C (p.Arg1744Thr)
c.5105G>C (p.Arg1702Thr)
c.5225G>C (p.Arg1742Thr)
c.5153G>C (p.Arg1718Thr)
c.1919G>C (p.Arg640Thr)
c.1781G>C (p.Arg594Thr)
c.4343G>C (p.Arg1448Thr)
c.5108G>C (p.Arg1703Thr)
c.5297G>C (p.Arg1766Thr)
c.5090G>C (p.Arg1697Thr)
c.1793G>C (p.Arg598Thr)
c.5294G>C (p.Arg1765Thr)
c.1618G>C
c.1805G>C (p.Arg602Thr)
c.*5014G>C (n.*5014G>C)
c.161G>C (p.Arg54Thr)
c.704G>C (p.Arg235Thr)
c.-98-6908G>C (n.-98-6908G>C)
n.5367G>C
n.5408G>C
 ClinVar dbSNP
17g.43057098C>TCA10591082BRCA1c.5228G>A (p.Arg1743Lys)
c.5231G>A (p.Arg1744Lys)
c.5105G>A (p.Arg1702Lys)
c.5225G>A (p.Arg1742Lys)
c.5153G>A (p.Arg1718Lys)
c.1919G>A (p.Arg640Lys)
c.1781G>A (p.Arg594Lys)
c.4343G>A (p.Arg1448Lys)
c.5108G>A (p.Arg1703Lys)
c.5297G>A (p.Arg1766Lys)
c.5090G>A (p.Arg1697Lys)
c.1793G>A (p.Arg598Lys)
c.5294G>A (p.Arg1765Lys)
c.1618G>A
c.1805G>A (p.Arg602Lys)
c.*5014G>A (n.*5014G>A)
c.161G>A (p.Arg54Lys)
c.704G>A (p.Arg235Lys)
c.-98-6908G>A (n.-98-6908G>A)
n.5367G>A
n.5408G>A
 ClinVar dbSNP COSMIC COSMIC
17g.43057098_43057099delinsCTCA2260766426BRCA1c.5227_5228delinsAG (p.Arg1743=)
c.5230_5231delinsAG (p.Arg1744=)
c.5104_5105delinsAG (p.Arg1702=)
c.5224_5225delinsAG (p.Arg1742=)
c.5152_5153delinsAG (p.Arg1718=)
c.1918_1919delinsAG (p.Arg640=)
c.1780_1781delinsAG (p.Arg594=)
c.4342_4343delinsAG (p.Arg1448=)
c.5107_5108delinsAG (p.Arg1703=)
c.5296_5297delinsAG (p.Arg1766=)
c.5089_5090delinsAG (p.Arg1697=)
c.1792_1793delinsAG (p.Arg598=)
c.5293_5294delinsAG (p.Arg1765=)
c.1617_1618delinsAG
c.1804_1805delinsAG (p.Arg602=)
c.*5013_*5014delinsAG (n.*5013_*5014delinsAG)
c.160_161delinsAG (p.Arg54=)
c.703_704delinsAG (p.Arg235=)
c.-98-6909_-98-6908delinsAG (n.-98-6909_-98-6908delinsAG)
n.5366_5367delinsAG
n.5407_5408delinsAG
17g.43057098_43057100delinsCTTCA2260766425BRCA1c.5226_5228delinsAAG (p.Gly1742=)
c.5229_5231delinsAAG (p.Gly1743=)
c.5103_5105delinsAAG (p.Gly1701=)
c.5223_5225delinsAAG (p.Gly1741=)
c.5151_5153delinsAAG (p.Gly1717=)
c.1917_1919delinsAAG (p.Gly639=)
c.1779_1781delinsAAG (p.Gly593=)
c.4341_4343delinsAAG (p.Gly1447=)
c.5106_5108delinsAAG (p.Gly1702=)
c.5295_5297delinsAAG (p.Gly1765=)
c.5088_5090delinsAAG (p.Gly1696=)
c.1791_1793delinsAAG (p.Gly597=)
c.5292_5294delinsAAG (p.Gly1764=)
c.1616_1618delinsAAG
c.1803_1805delinsAAG (p.Gly601=)
c.*5012_*5014delinsAAG (n.*5012_*5014delinsAAG)
c.159_161delinsAAG (p.Gly53=)
c.702_704delinsAAG (p.Gly234=)
c.-98-6910_-98-6908delinsAAG (n.-98-6910_-98-6908delinsAAG)
n.5365_5367delinsAAG
n.5406_5408delinsAAG
17g.43057099T>ACA10591083BRCA1c.5227A>T (p.Arg1743Ter)
c.5230A>T (p.Arg1744Ter)
c.5104A>T (p.Arg1702Ter)
c.5224A>T (p.Arg1742Ter)
c.5152A>T (p.Arg1718Ter)
c.1918A>T (p.Arg640Ter)
c.1780A>T (p.Arg594Ter)
c.4342A>T (p.Arg1448Ter)
c.5107A>T (p.Arg1703Ter)
c.5296A>T (p.Arg1766Ter)
c.5089A>T (p.Arg1697Ter)
c.1792A>T (p.Arg598Ter)
c.5293A>T (p.Arg1765Ter)
c.1617A>T
c.1804A>T (p.Arg602Ter)
c.*5013A>T (n.*5013A>T)
c.160A>T (p.Arg54Ter)
c.703A>T (p.Arg235Ter)
c.-98-6909A>T (n.-98-6909A>T)
n.5366A>T
n.5407A>T
 ClinVar dbSNP
17g.43057099T>CCA10591084BRCA1c.5227A>G (p.Arg1743Gly)
c.5230A>G (p.Arg1744Gly)
c.5104A>G (p.Arg1702Gly)
c.5224A>G (p.Arg1742Gly)
c.5152A>G (p.Arg1718Gly)
c.1918A>G (p.Arg640Gly)
c.1780A>G (p.Arg594Gly)
c.4342A>G (p.Arg1448Gly)
c.5107A>G (p.Arg1703Gly)
c.5296A>G (p.Arg1766Gly)
c.5089A>G (p.Arg1697Gly)
c.1792A>G (p.Arg598Gly)
c.5293A>G (p.Arg1765Gly)
c.1617A>G
c.1804A>G (p.Arg602Gly)
c.*5013A>G (n.*5013A>G)
c.160A>G (p.Arg54Gly)
c.703A>G (p.Arg235Gly)
c.-98-6909A>G (n.-98-6909A>G)
n.5366A>G
n.5407A>G
 ClinVar dbSNP
17g.43057099T>GCA500144728BRCA1c.5227A>C (p.Arg1743=)
c.5230A>C (p.Arg1744=)
c.5104A>C (p.Arg1702=)
c.5224A>C (p.Arg1742=)
c.5152A>C (p.Arg1718=)
c.1918A>C (p.Arg640=)
c.1780A>C (p.Arg594=)
c.4342A>C (p.Arg1448=)
c.5107A>C (p.Arg1703=)
c.5296A>C (p.Arg1766=)
c.5089A>C (p.Arg1697=)
c.1792A>C (p.Arg598=)
c.5293A>C (p.Arg1765=)
c.1617A>C
c.1804A>C (p.Arg602=)
c.*5013A>C (n.*5013A>C)
c.160A>C (p.Arg54=)
c.703A>C (p.Arg235=)
c.-98-6909A>C (n.-98-6909A>C)
n.5366A>C
n.5407A>C
 ClinVar dbSNP
17g.43057099T=CA2260766428BRCA1c.5227A= (p.Arg1743=)
c.5230A= (p.Arg1744=)
c.5104A= (p.Arg1702=)
c.5224A= (p.Arg1742=)
c.5152A= (p.Arg1718=)
c.1918A= (p.Arg640=)
c.1780A= (p.Arg594=)
c.4342A= (p.Arg1448=)
c.5107A= (p.Arg1703=)
c.5296A= (p.Arg1766=)
c.5089A= (p.Arg1697=)
c.1792A= (p.Arg598=)
c.5293A= (p.Arg1765=)
c.1617A=
c.1804A= (p.Arg602=)
c.*5013A= (n.*5013A=)
c.160A= (p.Arg54=)
c.703A= (p.Arg235=)
c.-98-6909A= (n.-98-6909A=)
n.5366A=
n.5407A=
17g.43057099_43057100delCA003372BRCA1c.5226_5227del (p.Arg1743LysfsTer?)
c.5229_5230del (p.Arg1744LysfsTer?)
c.5103_5104del (p.Arg1702LysfsTer?)
c.5223_5224del (p.Arg1742LysfsTer?)
c.5151_5152del (p.Arg1718LysfsTer?)
c.1917_1918del (p.Arg640LysfsTer?)
c.1779_1780del (p.Arg594LysfsTer?)
c.4341_4342del (p.Arg1448LysfsTer?)
c.5106_5107del (p.Arg1703LysfsTer?)
c.5295_5296del (p.Arg1766LysfsTer?)
c.5088_5089del (p.Arg1697LysfsTer?)
c.1791_1792del (p.Arg598LysfsTer?)
c.5292_5293del (p.Arg1765LysfsTer?)
c.1616_1617del
c.1803_1804del (p.Arg602LysfsTer?)
c.*5012_*5013del (n.*5012_*5013del)
c.159_160del (p.Arg54LysfsTer?)
c.702_703del (p.Arg235LysfsTer?)
c.-98-6910_-98-6909del (n.-98-6910_-98-6909del)
n.5365_5366del
n.5406_5407del
 ClinVar dbSNP gnomAD v4
17g.43057100delCA003374BRCA1c.5227del (p.Arg1743GlufsTer21)
c.5230del (p.Arg1744GlufsTer21)
c.5104del (p.Arg1702GlufsTer21)
c.5224del (p.Arg1742GlufsTer21)
c.5152del (p.Arg1718GlufsTer21)
c.1918del (p.Arg640GlufsTer21)
c.1780del (p.Arg594GlufsTer21)
c.4342del (p.Arg1448GlufsTer21)
c.5107del (p.Arg1703GlufsTer21)
c.5296del (p.Arg1766GlufsTer21)
c.5089del (p.Arg1697GlufsTer21)
c.1792del (p.Arg598GlufsTer21)
c.5293del (p.Arg1765GlufsTer21)
c.1617del
c.1804del (p.Arg602GlufsTer21)
c.*5013del (n.*5013del)
c.160del (p.Arg54GlufsTer21)
c.703del (p.Arg235GlufsTer21)
c.-98-6909del (n.-98-6909del)
n.5366del
n.5407del
 ClinVar dbSNP
17g.43057100T>ACA500144734BRCA1c.5226A>T (p.Gly1742=)
c.5229A>T (p.Gly1743=)
c.5103A>T (p.Gly1701=)
c.5223A>T (p.Gly1741=)
c.5151A>T (p.Gly1717=)
c.1917A>T (p.Gly639=)
c.1779A>T (p.Gly593=)
c.4341A>T (p.Gly1447=)
c.5106A>T (p.Gly1702=)
c.5295A>T (p.Gly1765=)
c.5088A>T (p.Gly1696=)
c.1791A>T (p.Gly597=)
c.5292A>T (p.Gly1764=)
c.1616A>T
c.1803A>T (p.Gly601=)
c.*5012A>T (n.*5012A>T)
c.159A>T (p.Gly53=)
c.702A>T (p.Gly234=)
c.-98-6910A>T (n.-98-6910A>T)
n.5365A>T
n.5406A>T
 ClinVar dbSNP
17g.43057100T>CCA500144736BRCA1c.5226A>G (p.Gly1742=)
c.5229A>G (p.Gly1743=)
c.5103A>G (p.Gly1701=)
c.5223A>G (p.Gly1741=)
c.5151A>G (p.Gly1717=)
c.1917A>G (p.Gly639=)
c.1779A>G (p.Gly593=)
c.4341A>G (p.Gly1447=)
c.5106A>G (p.Gly1702=)
c.5295A>G (p.Gly1765=)
c.5088A>G (p.Gly1696=)
c.1791A>G (p.Gly597=)
c.5292A>G (p.Gly1764=)
c.1616A>G
c.1803A>G (p.Gly601=)
c.*5012A>G (n.*5012A>G)
c.159A>G (p.Gly53=)
c.702A>G (p.Gly234=)
c.-98-6910A>G (n.-98-6910A>G)
n.5365A>G
n.5406A>G
 ClinVar dbSNP
17g.43057100T>GCA500144738BRCA1c.5226A>C (p.Gly1742=)
c.5229A>C (p.Gly1743=)
c.5103A>C (p.Gly1701=)
c.5223A>C (p.Gly1741=)
c.5151A>C (p.Gly1717=)
c.1917A>C (p.Gly639=)
c.1779A>C (p.Gly593=)
c.4341A>C (p.Gly1447=)
c.5106A>C (p.Gly1702=)
c.5295A>C (p.Gly1765=)
c.5088A>C (p.Gly1696=)
c.1791A>C (p.Gly597=)
c.5292A>C (p.Gly1764=)
c.1616A>C
c.1803A>C (p.Gly601=)
c.*5012A>C (n.*5012A>C)
c.159A>C (p.Gly53=)
c.702A>C (p.Gly234=)
c.-98-6910A>C (n.-98-6910A>C)
n.5365A>C
n.5406A>C
 ClinVar dbSNP
17g.43057100T=CA2260766430BRCA1c.5226A= (p.Gly1742=)
c.5229A= (p.Gly1743=)
c.5103A= (p.Gly1701=)
c.5223A= (p.Gly1741=)
c.5151A= (p.Gly1717=)
c.1917A= (p.Gly639=)
c.1779A= (p.Gly593=)
c.4341A= (p.Gly1447=)
c.5106A= (p.Gly1702=)
c.5295A= (p.Gly1765=)
c.5088A= (p.Gly1696=)
c.1791A= (p.Gly597=)
c.5292A= (p.Gly1764=)
c.1616A=
c.1803A= (p.Gly601=)
c.*5012A= (n.*5012A=)
c.159A= (p.Gly53=)
c.702A= (p.Gly234=)
c.-98-6910A= (n.-98-6910A=)
n.5365A=
n.5406A=
17g.43057100_43057101delinsTCCA2260766429BRCA1c.5225_5226delinsGA (p.Gly1742=)
c.5228_5229delinsGA (p.Gly1743=)
c.5102_5103delinsGA (p.Gly1701=)
c.5222_5223delinsGA (p.Gly1741=)
c.5150_5151delinsGA (p.Gly1717=)
c.1916_1917delinsGA (p.Gly639=)
c.1778_1779delinsGA (p.Gly593=)
c.4340_4341delinsGA (p.Gly1447=)
c.5105_5106delinsGA (p.Gly1702=)
c.5294_5295delinsGA (p.Gly1765=)
c.5087_5088delinsGA (p.Gly1696=)
c.1790_1791delinsGA (p.Gly597=)
c.5291_5292delinsGA (p.Gly1764=)
c.1615_1616delinsGA
c.1802_1803delinsGA (p.Gly601=)
c.*5011_*5012delinsGA (n.*5011_*5012delinsGA)
c.158_159delinsGA (p.Gly53=)
c.701_702delinsGA (p.Gly234=)
c.-98-6911_-98-6910delinsGA (n.-98-6911_-98-6910delinsGA)
n.5364_5365delinsGA
n.5405_5406delinsGA
17g.43057101C>ACA10591085BRCA1c.5225G>T (p.Gly1742Val)
c.5228G>T (p.Gly1743Val)
c.5102G>T (p.Gly1701Val)
c.5222G>T (p.Gly1741Val)
c.5150G>T (p.Gly1717Val)
c.1916G>T (p.Gly639Val)
c.1778G>T (p.Gly593Val)
c.4340G>T (p.Gly1447Val)
c.5105G>T (p.Gly1702Val)
c.5294G>T (p.Gly1765Val)
c.5087G>T (p.Gly1696Val)
c.1790G>T (p.Gly597Val)
c.5291G>T (p.Gly1764Val)
c.1615G>T
c.1802G>T (p.Gly601Val)
c.*5011G>T (n.*5011G>T)
c.158G>T (p.Gly53Val)
c.701G>T (p.Gly234Val)
c.-98-6911G>T (n.-98-6911G>T)
n.5364G>T
n.5405G>T
 ClinVar dbSNP
17g.43057101C=CA2260766431BRCA1c.5225G= (p.Gly1742=)
c.5228G= (p.Gly1743=)
c.5102G= (p.Gly1701=)
c.5222G= (p.Gly1741=)
c.5150G= (p.Gly1717=)
c.1916G= (p.Gly639=)
c.1778G= (p.Gly593=)
c.4340G= (p.Gly1447=)
c.5105G= (p.Gly1702=)
c.5294G= (p.Gly1765=)
c.5087G= (p.Gly1696=)
c.1790G= (p.Gly597=)
c.5291G= (p.Gly1764=)
c.1615G=
c.1802G= (p.Gly601=)
c.*5011G= (n.*5011G=)
c.158G= (p.Gly53=)
c.701G= (p.Gly234=)
c.-98-6911G= (n.-98-6911G=)
n.5364G=
n.5405G=
17g.43057101C>GCA10591086BRCA1c.5225G>C (p.Gly1742Ala)
c.5228G>C (p.Gly1743Ala)
c.5102G>C (p.Gly1701Ala)
c.5222G>C (p.Gly1741Ala)
c.5150G>C (p.Gly1717Ala)
c.1916G>C (p.Gly639Ala)
c.1778G>C (p.Gly593Ala)
c.4340G>C (p.Gly1447Ala)
c.5105G>C (p.Gly1702Ala)
c.5294G>C (p.Gly1765Ala)
c.5087G>C (p.Gly1696Ala)
c.1790G>C (p.Gly597Ala)
c.5291G>C (p.Gly1764Ala)
c.1615G>C
c.1802G>C (p.Gly601Ala)
c.*5011G>C (n.*5011G>C)
c.158G>C (p.Gly53Ala)
c.701G>C (p.Gly234Ala)
c.-98-6911G>C (n.-98-6911G>C)
n.5364G>C
n.5405G>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.43057101C>TCA10591087BRCA1c.5225G>A (p.Gly1742Glu)
c.5228G>A (p.Gly1743Glu)
c.5102G>A (p.Gly1701Glu)
c.5222G>A (p.Gly1741Glu)
c.5150G>A (p.Gly1717Glu)
c.1916G>A (p.Gly639Glu)
c.1778G>A (p.Gly593Glu)
c.4340G>A (p.Gly1447Glu)
c.5105G>A (p.Gly1702Glu)
c.5294G>A (p.Gly1765Glu)
c.5087G>A (p.Gly1696Glu)
c.1790G>A (p.Gly597Glu)
c.5291G>A (p.Gly1764Glu)
c.1615G>A
c.1802G>A (p.Gly601Glu)
c.*5011G>A (n.*5011G>A)
c.158G>A (p.Gly53Glu)
c.701G>A (p.Gly234Glu)
c.-98-6911G>A (n.-98-6911G>A)
n.5364G>A
n.5405G>A
 ClinVar dbSNP
17g.43057102delCA919844325BRCA1c.5225del (p.Gly1742GlufsTer22)
c.5228del (p.Gly1743GlufsTer22)
c.5102del (p.Gly1701GlufsTer22)
c.5222del (p.Gly1741GlufsTer22)
c.5150del (p.Gly1717GlufsTer22)
c.1916del (p.Gly639GlufsTer22)
c.1778del (p.Gly593GlufsTer22)
c.4340del (p.Gly1447GlufsTer22)
c.5105del (p.Gly1702GlufsTer22)
c.5294del (p.Gly1765GlufsTer22)
c.5087del (p.Gly1696GlufsTer22)
c.1790del (p.Gly597GlufsTer22)
c.5291del (p.Gly1764GlufsTer22)
c.1615del
c.1802del (p.Gly601GlufsTer22)
c.*5011del (n.*5011del)
c.158del (p.Gly53GlufsTer22)
c.701del (p.Gly234GlufsTer22)
c.-98-6911del (n.-98-6911del)
n.5364del
n.5405del
 ClinVar dbSNP
17g.43057102C>ACA10591088BRCA1c.5224G>T (p.Gly1742Ter)
c.5227G>T (p.Gly1743Ter)
c.5101G>T (p.Gly1701Ter)
c.5221G>T (p.Gly1741Ter)
c.5149G>T (p.Gly1717Ter)
c.1915G>T (p.Gly639Ter)
c.1777G>T (p.Gly593Ter)
c.4339G>T (p.Gly1447Ter)
c.5104G>T (p.Gly1702Ter)
c.5293G>T (p.Gly1765Ter)
c.5086G>T (p.Gly1696Ter)
c.1789G>T (p.Gly597Ter)
c.5290G>T (p.Gly1764Ter)
c.1614G>T
c.1801G>T (p.Gly601Ter)
c.*5010G>T (n.*5010G>T)
c.157G>T (p.Gly53Ter)
c.700G>T (p.Gly234Ter)
c.-98-6912G>T (n.-98-6912G>T)
n.5363G>T
n.5404G>T
 ClinVar dbSNP
17g.43057102C=CA2260766432BRCA1c.5224G= (p.Gly1742=)
c.5227G= (p.Gly1743=)
c.5101G= (p.Gly1701=)
c.5221G= (p.Gly1741=)
c.5149G= (p.Gly1717=)
c.1915G= (p.Gly639=)
c.1777G= (p.Gly593=)
c.4339G= (p.Gly1447=)
c.5104G= (p.Gly1702=)
c.5293G= (p.Gly1765=)
c.5086G= (p.Gly1696=)
c.1789G= (p.Gly597=)
c.5290G= (p.Gly1764=)
c.1614G=
c.1801G= (p.Gly601=)
c.*5010G= (n.*5010G=)
c.157G= (p.Gly53=)
c.700G= (p.Gly234=)
c.-98-6912G= (n.-98-6912G=)
n.5363G=
n.5404G=
17g.43057102C>GCA10591089BRCA1c.5224G>C (p.Gly1742Arg)
c.5227G>C (p.Gly1743Arg)
c.5101G>C (p.Gly1701Arg)
c.5221G>C (p.Gly1741Arg)
c.5149G>C (p.Gly1717Arg)
c.1915G>C (p.Gly639Arg)
c.1777G>C (p.Gly593Arg)
c.4339G>C (p.Gly1447Arg)
c.5104G>C (p.Gly1702Arg)
c.5293G>C (p.Gly1765Arg)
c.5086G>C (p.Gly1696Arg)
c.1789G>C (p.Gly597Arg)
c.5290G>C (p.Gly1764Arg)
c.1614G>C
c.1801G>C (p.Gly601Arg)
c.*5010G>C (n.*5010G>C)
c.157G>C (p.Gly53Arg)
c.700G>C (p.Gly234Arg)
c.-98-6912G>C (n.-98-6912G>C)
n.5363G>C
n.5404G>C
 ClinVar dbSNP
17g.43057102C>TCA10591090BRCA1c.5224G>A (p.Gly1742Arg)
c.5227G>A (p.Gly1743Arg)
c.5101G>A (p.Gly1701Arg)
c.5221G>A (p.Gly1741Arg)
c.5149G>A (p.Gly1717Arg)
c.1915G>A (p.Gly639Arg)
c.1777G>A (p.Gly593Arg)
c.4339G>A (p.Gly1447Arg)
c.5104G>A (p.Gly1702Arg)
c.5293G>A (p.Gly1765Arg)
c.5086G>A (p.Gly1696Arg)
c.1789G>A (p.Gly597Arg)
c.5290G>A (p.Gly1764Arg)
c.1614G>A
c.1801G>A (p.Gly601Arg)
c.*5010G>A (n.*5010G>A)
c.157G>A (p.Gly53Arg)
c.700G>A (p.Gly234Arg)
c.-98-6912G>A (n.-98-6912G>A)
n.5363G>A
n.5404G>A
 ClinVar dbSNP
17g.43057103A=CA2260766433BRCA1c.5223T= (p.Asn1741=)
c.5226T= (p.Asn1742=)
c.5100T= (p.Asn1700=)
c.5220T= (p.Asn1740=)
c.5148T= (p.Asn1716=)
c.1914T= (p.Asn638=)
c.1776T= (p.Asn592=)
c.4338T= (p.Asn1446=)
c.5103T= (p.Asn1701=)
c.5292T= (p.Asn1764=)
c.5085T= (p.Asn1695=)
c.1788T= (p.Asn596=)
c.5289T= (p.Asn1763=)
c.1613T=
c.1800T= (p.Asn600=)
c.*5009T= (n.*5009T=)
c.156T= (p.Asn52=)
c.699T= (p.Asn233=)
c.-98-6913T= (n.-98-6913T=)
n.5362T=
n.5403T=
17g.43057103A>CCA10591091BRCA1c.5223T>G (p.Asn1741Lys)
c.5226T>G (p.Asn1742Lys)
c.5100T>G (p.Asn1700Lys)
c.5220T>G (p.Asn1740Lys)
c.5148T>G (p.Asn1716Lys)
c.1914T>G (p.Asn638Lys)
c.1776T>G (p.Asn592Lys)
c.4338T>G (p.Asn1446Lys)
c.5103T>G (p.Asn1701Lys)
c.5292T>G (p.Asn1764Lys)
c.5085T>G (p.Asn1695Lys)
c.1788T>G (p.Asn596Lys)
c.5289T>G (p.Asn1763Lys)
c.1613T>G
c.1800T>G (p.Asn600Lys)
c.*5009T>G (n.*5009T>G)
c.156T>G (p.Asn52Lys)
c.699T>G (p.Asn233Lys)
c.-98-6913T>G (n.-98-6913T>G)
n.5362T>G
n.5403T>G
 ClinVar dbSNP
17g.43057103A>GCA500144750BRCA1c.5223T>C (p.Asn1741=)
c.5226T>C (p.Asn1742=)
c.5100T>C (p.Asn1700=)
c.5220T>C (p.Asn1740=)
c.5148T>C (p.Asn1716=)
c.1914T>C (p.Asn638=)
c.1776T>C (p.Asn592=)
c.4338T>C (p.Asn1446=)
c.5103T>C (p.Asn1701=)
c.5292T>C (p.Asn1764=)
c.5085T>C (p.Asn1695=)
c.1788T>C (p.Asn596=)
c.5289T>C (p.Asn1763=)
c.1613T>C
c.1800T>C (p.Asn600=)
c.*5009T>C (n.*5009T>C)
c.156T>C (p.Asn52=)
c.699T>C (p.Asn233=)
c.-98-6913T>C (n.-98-6913T>C)
n.5362T>C
n.5403T>C
 ClinVar dbSNP
17g.43057103A>TCA10591092BRCA1c.5223T>A (p.Asn1741Lys)
c.5226T>A (p.Asn1742Lys)
c.5100T>A (p.Asn1700Lys)
c.5220T>A (p.Asn1740Lys)
c.5148T>A (p.Asn1716Lys)
c.1914T>A (p.Asn638Lys)
c.1776T>A (p.Asn592Lys)
c.4338T>A (p.Asn1446Lys)
c.5103T>A (p.Asn1701Lys)
c.5292T>A (p.Asn1764Lys)
c.5085T>A (p.Asn1695Lys)
c.1788T>A (p.Asn596Lys)
c.5289T>A (p.Asn1763Lys)
c.1613T>A
c.1800T>A (p.Asn600Lys)
c.*5009T>A (n.*5009T>A)
c.156T>A (p.Asn52Lys)
c.699T>A (p.Asn233Lys)
c.-98-6913T>A (n.-98-6913T>A)
n.5362T>A
n.5403T>A
 ClinVar dbSNP
17g.43057104T>ACA10591093BRCA1c.5222A>T (p.Asn1741Ile)
c.5225A>T (p.Asn1742Ile)
c.5099A>T (p.Asn1700Ile)
c.5219A>T (p.Asn1740Ile)
c.5147A>T (p.Asn1716Ile)
c.1913A>T (p.Asn638Ile)
c.1775A>T (p.Asn592Ile)
c.4337A>T (p.Asn1446Ile)
c.5102A>T (p.Asn1701Ile)
c.5291A>T (p.Asn1764Ile)
c.5084A>T (p.Asn1695Ile)
c.1787A>T (p.Asn596Ile)
c.5288A>T (p.Asn1763Ile)
c.1612A>T
c.1799A>T (p.Asn600Ile)
c.*5008A>T (n.*5008A>T)
c.155A>T (p.Asn52Ile)
c.698A>T (p.Asn233Ile)
c.-98-6914A>T (n.-98-6914A>T)
n.5361A>T
n.5402A>T
 ClinVar dbSNP
17g.43057104T>CCA348708BRCA1c.5222A>G (p.Asn1741Ser)
c.5225A>G (p.Asn1742Ser)
c.5099A>G (p.Asn1700Ser)
c.5219A>G (p.Asn1740Ser)
c.5147A>G (p.Asn1716Ser)
c.1913A>G (p.Asn638Ser)
c.1775A>G (p.Asn592Ser)
c.4337A>G (p.Asn1446Ser)
c.5102A>G (p.Asn1701Ser)
c.5291A>G (p.Asn1764Ser)
c.5084A>G (p.Asn1695Ser)
c.1787A>G (p.Asn596Ser)
c.5288A>G (p.Asn1763Ser)
c.1612A>G
c.1799A>G (p.Asn600Ser)
c.*5008A>G (n.*5008A>G)
c.155A>G (p.Asn52Ser)
c.698A>G (p.Asn233Ser)
c.-98-6914A>G (n.-98-6914A>G)
n.5361A>G
n.5402A>G
 ClinVar dbSNP gnomAD v4
17g.43057104T>GCA10591094BRCA1c.5222A>C (p.Asn1741Thr)
c.5225A>C (p.Asn1742Thr)
c.5099A>C (p.Asn1700Thr)
c.5219A>C (p.Asn1740Thr)
c.5147A>C (p.Asn1716Thr)
c.1913A>C (p.Asn638Thr)
c.1775A>C (p.Asn592Thr)
c.4337A>C (p.Asn1446Thr)
c.5102A>C (p.Asn1701Thr)
c.5291A>C (p.Asn1764Thr)
c.5084A>C (p.Asn1695Thr)
c.1787A>C (p.Asn596Thr)
c.5288A>C (p.Asn1763Thr)
c.1612A>C
c.1799A>C (p.Asn600Thr)
c.*5008A>C (n.*5008A>C)
c.155A>C (p.Asn52Thr)
c.698A>C (p.Asn233Thr)
c.-98-6914A>C (n.-98-6914A>C)
n.5361A>C
n.5402A>C
 ClinVar dbSNP
17g.43057104T=CA2260766434BRCA1c.5222A= (p.Asn1741=)
c.5225A= (p.Asn1742=)
c.5099A= (p.Asn1700=)
c.5219A= (p.Asn1740=)
c.5147A= (p.Asn1716=)
c.1913A= (p.Asn638=)
c.1775A= (p.Asn592=)
c.4337A= (p.Asn1446=)
c.5102A= (p.Asn1701=)
c.5291A= (p.Asn1764=)
c.5084A= (p.Asn1695=)
c.1787A= (p.Asn596=)
c.5288A= (p.Asn1763=)
c.1612A=
c.1799A= (p.Asn600=)
c.*5008A= (n.*5008A=)
c.155A= (p.Asn52=)
c.698A= (p.Asn233=)
c.-98-6914A= (n.-98-6914A=)
n.5361A=
n.5402A=
17g.43057105delCA2580612678BRCA1c.5222del (p.Asn1741MetfsTer23)
c.5225del (p.Asn1742MetfsTer23)
c.5099del (p.Asn1700MetfsTer23)
c.5219del (p.Asn1740MetfsTer23)
c.5147del (p.Asn1716MetfsTer23)
c.1913del (p.Asn638MetfsTer23)
c.1775del (p.Asn592MetfsTer23)
c.4337del (p.Asn1446MetfsTer23)
c.5102del (p.Asn1701MetfsTer23)
c.5291del (p.Asn1764MetfsTer23)
c.5084del (p.Asn1695MetfsTer23)
c.1787del (p.Asn596MetfsTer23)
c.5288del (p.Asn1763MetfsTer23)
c.1612del
c.1799del (p.Asn600MetfsTer23)
c.*5008del (n.*5008del)
c.155del (p.Asn52MetfsTer23)
c.698del (p.Asn233MetfsTer23)
c.-98-6914del (n.-98-6914del)
n.5361del
n.5402del
 ClinVar
17g.43057104_43057108delinsTTGACCA2260766435BRCA1c.5218_5222delinsGTCAA (p.Val1740=)
c.5221_5225delinsGTCAA (p.Val1741=)
c.5095_5099delinsGTCAA (p.Val1699=)
c.5215_5219delinsGTCAA (p.Val1739=)
c.5143_5147delinsGTCAA (p.Val1715=)
c.1909_1913delinsGTCAA (p.Val637=)
c.1771_1775delinsGTCAA (p.Val591=)
c.4333_4337delinsGTCAA (p.Val1445=)
c.5098_5102delinsGTCAA (p.Val1700=)
c.5287_5291delinsGTCAA (p.Val1763=)
c.5080_5084delinsGTCAA (p.Val1694=)
c.1783_1787delinsGTCAA (p.Val595=)
c.5284_5288delinsGTCAA (p.Val1762=)
c.1608_1612delinsGTCAA
c.1795_1799delinsGTCAA (p.Val599=)
c.*5004_*5008delinsGTCAA (n.*5004_*5008delinsGTCAA)
c.151_155delinsGTCAA (p.Val51=)
c.694_698delinsGTCAA (p.Val232=)
c.-98-6918_-98-6914delinsGTCAA (n.-98-6918_-98-6914delinsGTCAA)
n.5357_5361delinsGTCAA
n.5398_5402delinsGTCAA
17g.43057104_43057110delinsTTGACCACA2260766436BRCA1c.5216_5222delinsTGGTCAA (p.Val1739=)
c.5219_5225delinsTGGTCAA (p.Val1740=)
c.5093_5099delinsTGGTCAA (p.Val1698=)
c.5213_5219delinsTGGTCAA (p.Val1738=)
c.5141_5147delinsTGGTCAA (p.Val1714=)
c.1907_1913delinsTGGTCAA (p.Val636=)
c.1769_1775delinsTGGTCAA (p.Val590=)
c.4331_4337delinsTGGTCAA (p.Val1444=)
c.5096_5102delinsTGGTCAA (p.Val1699=)
c.5285_5291delinsTGGTCAA (p.Val1762=)
c.5078_5084delinsTGGTCAA (p.Val1693=)
c.1781_1787delinsTGGTCAA (p.Val594=)
c.5282_5288delinsTGGTCAA (p.Val1761=)
c.1606_1612delinsTGGTCAA
c.1793_1799delinsTGGTCAA (p.Val598=)
c.*5002_*5008delinsTGGTCAA (n.*5002_*5008delinsTGGTCAA)
c.149_155delinsTGGTCAA (p.Val50=)
c.692_698delinsTGGTCAA (p.Val231=)
c.-98-6920_-98-6914delinsTGGTCAA (n.-98-6920_-98-6914delinsTGGTCAA)
n.5355_5361delinsTGGTCAA
n.5396_5402delinsTGGTCAA
17g.43057105T>ACA10591095BRCA1c.5221A>T (p.Asn1741Tyr)
c.5224A>T (p.Asn1742Tyr)
c.5098A>T (p.Asn1700Tyr)
c.5218A>T (p.Asn1740Tyr)
c.5146A>T (p.Asn1716Tyr)
c.1912A>T (p.Asn638Tyr)
c.1774A>T (p.Asn592Tyr)
c.4336A>T (p.Asn1446Tyr)
c.5101A>T (p.Asn1701Tyr)
c.5290A>T (p.Asn1764Tyr)
c.5083A>T (p.Asn1695Tyr)
c.1786A>T (p.Asn596Tyr)
c.5287A>T (p.Asn1763Tyr)
c.1611A>T
c.1798A>T (p.Asn600Tyr)
c.*5007A>T (n.*5007A>T)
c.154A>T (p.Asn52Tyr)
c.697A>T (p.Asn233Tyr)
c.-98-6915A>T (n.-98-6915A>T)
n.5360A>T
n.5401A>T
 ClinVar dbSNP
17g.43057105T>CCA10591096BRCA1c.5221A>G (p.Asn1741Asp)
c.5224A>G (p.Asn1742Asp)
c.5098A>G (p.Asn1700Asp)
c.5218A>G (p.Asn1740Asp)
c.5146A>G (p.Asn1716Asp)
c.1912A>G (p.Asn638Asp)
c.1774A>G (p.Asn592Asp)
c.4336A>G (p.Asn1446Asp)
c.5101A>G (p.Asn1701Asp)
c.5290A>G (p.Asn1764Asp)
c.5083A>G (p.Asn1695Asp)
c.1786A>G (p.Asn596Asp)
c.5287A>G (p.Asn1763Asp)
c.1611A>G
c.1798A>G (p.Asn600Asp)
c.*5007A>G (n.*5007A>G)
c.154A>G (p.Asn52Asp)
c.697A>G (p.Asn233Asp)
c.-98-6915A>G (n.-98-6915A>G)
n.5360A>G
n.5401A>G
 ClinVar dbSNP gnomAD v4
17g.43057105T>GCA10591097BRCA1c.5221A>C (p.Asn1741His)
c.5224A>C (p.Asn1742His)
c.5098A>C (p.Asn1700His)
c.5218A>C (p.Asn1740His)
c.5146A>C (p.Asn1716His)
c.1912A>C (p.Asn638His)
c.1774A>C (p.Asn592His)
c.4336A>C (p.Asn1446His)
c.5101A>C (p.Asn1701His)
c.5290A>C (p.Asn1764His)
c.5083A>C (p.Asn1695His)
c.1786A>C (p.Asn596His)
c.5287A>C (p.Asn1763His)
c.1611A>C
c.1798A>C (p.Asn600His)
c.*5007A>C (n.*5007A>C)
c.154A>C (p.Asn52His)
c.697A>C (p.Asn233His)
c.-98-6915A>C (n.-98-6915A>C)
n.5360A>C
n.5401A>C
 ClinVar dbSNP
17g.43057105T=CA2260766438BRCA1c.5221A= (p.Asn1741=)
c.5224A= (p.Asn1742=)
c.5098A= (p.Asn1700=)
c.5218A= (p.Asn1740=)
c.5146A= (p.Asn1716=)
c.1912A= (p.Asn638=)
c.1774A= (p.Asn592=)
c.4336A= (p.Asn1446=)
c.5101A= (p.Asn1701=)
c.5290A= (p.Asn1764=)
c.5083A= (p.Asn1695=)
c.1786A= (p.Asn596=)
c.5287A= (p.Asn1763=)
c.1611A=
c.1798A= (p.Asn600=)
c.*5007A= (n.*5007A=)
c.154A= (p.Asn52=)
c.697A= (p.Asn233=)
c.-98-6915A= (n.-98-6915A=)
n.5360A=
n.5401A=
17g.43057105_43057106delinsTGCA2260766437BRCA1c.5220_5221delinsCA (p.Val1740=)
c.5223_5224delinsCA (p.Val1741=)
c.5097_5098delinsCA (p.Val1699=)
c.5217_5218delinsCA (p.Val1739=)
c.5145_5146delinsCA (p.Val1715=)
c.1911_1912delinsCA (p.Val637=)
c.1773_1774delinsCA (p.Val591=)
c.4335_4336delinsCA (p.Val1445=)
c.5100_5101delinsCA (p.Val1700=)
c.5289_5290delinsCA (p.Val1763=)
c.5082_5083delinsCA (p.Val1694=)
c.1785_1786delinsCA (p.Val595=)
c.5286_5287delinsCA (p.Val1762=)
c.1610_1611delinsCA
c.1797_1798delinsCA (p.Val599=)
c.*5006_*5007delinsCA (n.*5006_*5007delinsCA)
c.153_154delinsCA (p.Val51=)
c.696_697delinsCA (p.Val232=)
c.-98-6916_-98-6915delinsCA (n.-98-6916_-98-6915delinsCA)
n.5359_5360delinsCA
n.5400_5401delinsCA
17g.43057105_43057108delCA10589608BRCA1c.5218_5221del (p.Val1740MetfsTer23)
c.5221_5224del (p.Val1741MetfsTer23)
c.5095_5098del (p.Val1699MetfsTer23)
c.5215_5218del (p.Val1739MetfsTer23)
c.5143_5146del (p.Val1715MetfsTer23)
c.1909_1912del (p.Val637MetfsTer23)
c.1771_1774del (p.Val591MetfsTer23)
c.4333_4336del (p.Val1445MetfsTer23)
c.5098_5101del (p.Val1700MetfsTer23)
c.5287_5290del (p.Val1763MetfsTer23)
c.5080_5083del (p.Val1694MetfsTer23)
c.1783_1786del (p.Val595MetfsTer23)
c.5284_5287del (p.Val1762MetfsTer23)
c.1608_1611del
c.1795_1798del (p.Val599MetfsTer23)
c.*5004_*5007del (n.*5004_*5007del)
c.151_154del (p.Val51MetfsTer23)
c.694_697del (p.Val232MetfsTer23)
c.-98-6918_-98-6915del (n.-98-6918_-98-6915del)
n.5357_5360del
n.5398_5401del
 ClinVar dbSNP
17g.43057105_43057110delCA658656664BRCA1c.5216_5221del (p.Val1739_Asn1741delinsAsp)
c.5219_5224del (p.Val1740_Asn1742delinsAsp)
c.5093_5098del (p.Val1698_Asn1700delinsAsp)
c.5213_5218del (p.Val1738_Asn1740delinsAsp)
c.5141_5146del (p.Val1714_Asn1716delinsAsp)
c.1907_1912del (p.Val636_Asn638delinsAsp)
c.1769_1774del (p.Val590_Asn592delinsAsp)
c.4331_4336del (p.Val1444_Asn1446delinsAsp)
c.5096_5101del (p.Val1699_Asn1701delinsAsp)
c.5285_5290del (p.Val1762_Asn1764delinsAsp)
c.5078_5083del (p.Val1693_Asn1695delinsAsp)
c.1781_1786del (p.Val594_Asn596delinsAsp)
c.5282_5287del (p.Val1761_Asn1763delinsAsp)
c.1606_1611del
c.1793_1798del (p.Val598_Asn600delinsAsp)
c.*5002_*5007del (n.*5002_*5007del)
c.149_154del (p.Val50_Asn52delinsAsp)
c.692_697del (p.Val231_Asn233delinsAsp)
c.-98-6920_-98-6915del (n.-98-6920_-98-6915del)
n.5355_5360del
n.5396_5401del
 ClinVar dbSNP
17g.43057106delCA915950056BRCA1c.5220del (p.Asn1741MetfsTer23)
c.5223del (p.Asn1742MetfsTer23)
c.5097del (p.Asn1700MetfsTer23)
c.5217del (p.Asn1740MetfsTer23)
c.5145del (p.Asn1716MetfsTer23)
c.1911del (p.Asn638MetfsTer23)
c.1773del (p.Asn592MetfsTer23)
c.4335del (p.Asn1446MetfsTer23)
c.5100del (p.Asn1701MetfsTer23)
c.5289del (p.Asn1764MetfsTer23)
c.5082del (p.Asn1695MetfsTer23)
c.1785del (p.Asn596MetfsTer23)
c.5286del (p.Asn1763MetfsTer23)
c.1610del
c.1797del (p.Asn600MetfsTer23)
c.*5006del (n.*5006del)
c.153del (p.Asn52MetfsTer23)
c.696del (p.Asn233MetfsTer23)
c.-98-6916del (n.-98-6916del)
n.5359del
n.5400del
 ClinVar dbSNP
17g.43057106G>ACA500144761BRCA1c.5220C>T (p.Val1740=)
c.5223C>T (p.Val1741=)
c.5097C>T (p.Val1699=)
c.5217C>T (p.Val1739=)
c.5145C>T (p.Val1715=)
c.1911C>T (p.Val637=)
c.1773C>T (p.Val591=)
c.4335C>T (p.Val1445=)
c.5100C>T (p.Val1700=)
c.5289C>T (p.Val1763=)
c.5082C>T (p.Val1694=)
c.1785C>T (p.Val595=)
c.5286C>T (p.Val1762=)
c.1610C>T
c.1797C>T (p.Val599=)
c.*5006C>T (n.*5006C>T)
c.153C>T (p.Val51=)
c.696C>T (p.Val232=)
c.-98-6916C>T (n.-98-6916C>T)
n.5359C>T
n.5400C>T
 ClinVar dbSNP
17g.43057106G>CCA500144763BRCA1c.5220C>G (p.Val1740=)
c.5223C>G (p.Val1741=)
c.5097C>G (p.Val1699=)
c.5217C>G (p.Val1739=)
c.5145C>G (p.Val1715=)
c.1911C>G (p.Val637=)
c.1773C>G (p.Val591=)
c.4335C>G (p.Val1445=)
c.5100C>G (p.Val1700=)
c.5289C>G (p.Val1763=)
c.5082C>G (p.Val1694=)
c.1785C>G (p.Val595=)
c.5286C>G (p.Val1762=)
c.1610C>G
c.1797C>G (p.Val599=)
c.*5006C>G (n.*5006C>G)
c.153C>G (p.Val51=)
c.696C>G (p.Val232=)
c.-98-6916C>G (n.-98-6916C>G)
n.5359C>G
n.5400C>G
 ClinVar dbSNP
17g.43057106G=CA2260766439BRCA1c.5220C= (p.Val1740=)
c.5223C= (p.Val1741=)
c.5097C= (p.Val1699=)
c.5217C= (p.Val1739=)
c.5145C= (p.Val1715=)
c.1911C= (p.Val637=)
c.1773C= (p.Val591=)
c.4335C= (p.Val1445=)
c.5100C= (p.Val1700=)
c.5289C= (p.Val1763=)
c.5082C= (p.Val1694=)
c.1785C= (p.Val595=)
c.5286C= (p.Val1762=)
c.1610C=
c.1797C= (p.Val599=)
c.*5006C= (n.*5006C=)
c.153C= (p.Val51=)
c.696C= (p.Val232=)
c.-98-6916C= (n.-98-6916C=)
n.5359C=
n.5400C=
17g.43057106G>TCA500144765BRCA1c.5220C>A (p.Val1740=)
c.5223C>A (p.Val1741=)
c.5097C>A (p.Val1699=)
c.5217C>A (p.Val1739=)
c.5145C>A (p.Val1715=)
c.1911C>A (p.Val637=)
c.1773C>A (p.Val591=)
c.4335C>A (p.Val1445=)
c.5100C>A (p.Val1700=)
c.5289C>A (p.Val1763=)
c.5082C>A (p.Val1694=)
c.1785C>A (p.Val595=)
c.5286C>A (p.Val1762=)
c.1610C>A
c.1797C>A (p.Val599=)
c.*5006C>A (n.*5006C>A)
c.153C>A (p.Val51=)
c.696C>A (p.Val232=)
c.-98-6916C>A (n.-98-6916C>A)
n.5359C>A
n.5400C>A
 ClinVar dbSNP
17g.43057107A=CA2260766440BRCA1c.5219T= (p.Val1740=)
c.5222T= (p.Val1741=)
c.5096T= (p.Val1699=)
c.5216T= (p.Val1739=)
c.5144T= (p.Val1715=)
c.1910T= (p.Val637=)
c.1772T= (p.Val591=)
c.4334T= (p.Val1445=)
c.5099T= (p.Val1700=)
c.5288T= (p.Val1763=)
c.5081T= (p.Val1694=)
c.1784T= (p.Val595=)
c.5285T= (p.Val1762=)
c.1609T=
c.1796T= (p.Val599=)
c.*5005T= (n.*5005T=)
c.152T= (p.Val51=)
c.695T= (p.Val232=)
c.-98-6917T= (n.-98-6917T=)
n.5358T=
n.5399T=
17g.43057107A>CCA003371BRCA1c.5219T>G (p.Val1740Gly)
c.5222T>G (p.Val1741Gly)
c.5096T>G (p.Val1699Gly)
c.5216T>G (p.Val1739Gly)
c.5144T>G (p.Val1715Gly)
c.1910T>G (p.Val637Gly)
c.1772T>G (p.Val591Gly)
c.4334T>G (p.Val1445Gly)
c.5099T>G (p.Val1700Gly)
c.5288T>G (p.Val1763Gly)
c.5081T>G (p.Val1694Gly)
c.1784T>G (p.Val595Gly)
c.5285T>G (p.Val1762Gly)
c.1609T>G
c.1796T>G (p.Val599Gly)
c.*5005T>G (n.*5005T>G)
c.152T>G (p.Val51Gly)
c.695T>G (p.Val232Gly)
c.-98-6917T>G (n.-98-6917T>G)
n.5358T>G
n.5399T>G
 ClinVar dbSNP
17g.43057107A>GCA10591098BRCA1c.5219T>C (p.Val1740Ala)
c.5222T>C (p.Val1741Ala)
c.5096T>C (p.Val1699Ala)
c.5216T>C (p.Val1739Ala)
c.5144T>C (p.Val1715Ala)
c.1910T>C (p.Val637Ala)
c.1772T>C (p.Val591Ala)
c.4334T>C (p.Val1445Ala)
c.5099T>C (p.Val1700Ala)
c.5288T>C (p.Val1763Ala)
c.5081T>C (p.Val1694Ala)
c.1784T>C (p.Val595Ala)
c.5285T>C (p.Val1762Ala)
c.1609T>C
c.1796T>C (p.Val599Ala)
c.*5005T>C (n.*5005T>C)
c.152T>C (p.Val51Ala)
c.695T>C (p.Val232Ala)
c.-98-6917T>C (n.-98-6917T>C)
n.5358T>C
n.5399T>C
 ClinVar dbSNP
17g.43057107A>TCA10591099BRCA1c.5219T>A (p.Val1740Asp)
c.5222T>A (p.Val1741Asp)
c.5096T>A (p.Val1699Asp)
c.5216T>A (p.Val1739Asp)
c.5144T>A (p.Val1715Asp)
c.1910T>A (p.Val637Asp)
c.1772T>A (p.Val591Asp)
c.4334T>A (p.Val1445Asp)
c.5099T>A (p.Val1700Asp)
c.5288T>A (p.Val1763Asp)
c.5081T>A (p.Val1694Asp)
c.1784T>A (p.Val595Asp)
c.5285T>A (p.Val1762Asp)
c.1609T>A
c.1796T>A (p.Val599Asp)
c.*5005T>A (n.*5005T>A)
c.152T>A (p.Val51Asp)
c.695T>A (p.Val232Asp)
c.-98-6917T>A (n.-98-6917T>A)
n.5358T>A
n.5399T>A
 ClinVar dbSNP
17g.43057108C>ACA10591100BRCA1c.5218G>T (p.Val1740Phe)
c.5221G>T (p.Val1741Phe)
c.5095G>T (p.Val1699Phe)
c.5215G>T (p.Val1739Phe)
c.5143G>T (p.Val1715Phe)
c.1909G>T (p.Val637Phe)
c.1771G>T (p.Val591Phe)
c.4333G>T (p.Val1445Phe)
c.5098G>T (p.Val1700Phe)
c.5287G>T (p.Val1763Phe)
c.5080G>T (p.Val1694Phe)
c.1783G>T (p.Val595Phe)
c.5284G>T (p.Val1762Phe)
c.1608G>T
c.1795G>T (p.Val599Phe)
c.*5004G>T (n.*5004G>T)
c.151G>T (p.Val51Phe)
c.694G>T (p.Val232Phe)
c.-98-6918G>T (n.-98-6918G>T)
n.5357G>T
n.5398G>T
 dbSNP
17g.43057108C=CA2260766441BRCA1c.5218G= (p.Val1740=)
c.5221G= (p.Val1741=)
c.5095G= (p.Val1699=)
c.5215G= (p.Val1739=)
c.5143G= (p.Val1715=)
c.1909G= (p.Val637=)
c.1771G= (p.Val591=)
c.4333G= (p.Val1445=)
c.5098G= (p.Val1700=)
c.5287G= (p.Val1763=)
c.5080G= (p.Val1694=)
c.1783G= (p.Val595=)
c.5284G= (p.Val1762=)
c.1608G=
c.1795G= (p.Val599=)
c.*5004G= (n.*5004G=)
c.151G= (p.Val51=)
c.694G= (p.Val232=)
c.-98-6918G= (n.-98-6918G=)
n.5357G=
n.5398G=
17g.43057108C>GCA10591101BRCA1c.5218G>C (p.Val1740Leu)
c.5221G>C (p.Val1741Leu)
c.5095G>C (p.Val1699Leu)
c.5215G>C (p.Val1739Leu)
c.5143G>C (p.Val1715Leu)
c.1909G>C (p.Val637Leu)
c.1771G>C (p.Val591Leu)
c.4333G>C (p.Val1445Leu)
c.5098G>C (p.Val1700Leu)
c.5287G>C (p.Val1763Leu)
c.5080G>C (p.Val1694Leu)
c.1783G>C (p.Val595Leu)
c.5284G>C (p.Val1762Leu)
c.1608G>C
c.1795G>C (p.Val599Leu)
c.*5004G>C (n.*5004G>C)
c.151G>C (p.Val51Leu)
c.694G>C (p.Val232Leu)
c.-98-6918G>C (n.-98-6918G>C)
n.5357G>C
n.5398G>C
 ClinVar dbSNP
17g.43057108C>TCA10580493BRCA1c.5218G>A (p.Val1740Ile)
c.5221G>A (p.Val1741Ile)
c.5095G>A (p.Val1699Ile)
c.5215G>A (p.Val1739Ile)
c.5143G>A (p.Val1715Ile)
c.1909G>A (p.Val637Ile)
c.1771G>A (p.Val591Ile)
c.4333G>A (p.Val1445Ile)
c.5098G>A (p.Val1700Ile)
c.5287G>A (p.Val1763Ile)
c.5080G>A (p.Val1694Ile)
c.1783G>A (p.Val595Ile)
c.5284G>A (p.Val1762Ile)
c.1608G>A
c.1795G>A (p.Val599Ile)
c.*5004G>A (n.*5004G>A)
c.151G>A (p.Val51Ile)
c.694G>A (p.Val232Ile)
c.-98-6918G>A (n.-98-6918G>A)
n.5357G>A
n.5398G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.43057109C>ACA500144777BRCA1c.5217G>T (p.Val1739=)
c.5220G>T (p.Val1740=)
c.5094G>T (p.Val1698=)
c.5214G>T (p.Val1738=)
c.5142G>T (p.Val1714=)
c.1908G>T (p.Val636=)
c.1770G>T (p.Val590=)
c.4332G>T (p.Val1444=)
c.5097G>T (p.Val1699=)
c.5286G>T (p.Val1762=)
c.5079G>T (p.Val1693=)
c.1782G>T (p.Val594=)
c.5283G>T (p.Val1761=)
c.1607G>T
c.1794G>T (p.Val598=)
c.*5003G>T (n.*5003G>T)
c.150G>T (p.Val50=)
c.693G>T (p.Val231=)
c.-98-6919G>T (n.-98-6919G>T)
n.5356G>T
n.5397G>T
 ClinVar dbSNP
17g.43057109C>GCA500144779BRCA1c.5217G>C (p.Val1739=)
c.5220G>C (p.Val1740=)
c.5094G>C (p.Val1698=)
c.5214G>C (p.Val1738=)
c.5142G>C (p.Val1714=)
c.1908G>C (p.Val636=)
c.1770G>C (p.Val590=)
c.4332G>C (p.Val1444=)
c.5097G>C (p.Val1699=)
c.5286G>C (p.Val1762=)
c.5079G>C (p.Val1693=)
c.1782G>C (p.Val594=)
c.5283G>C (p.Val1761=)
c.1607G>C
c.1794G>C (p.Val598=)
c.*5003G>C (n.*5003G>C)
c.150G>C (p.Val50=)
c.693G>C (p.Val231=)
c.-98-6919G>C (n.-98-6919G>C)
n.5356G>C
n.5397G>C
17g.43057109C>TCA500144781BRCA1c.5217G>A (p.Val1739=)
c.5220G>A (p.Val1740=)
c.5094G>A (p.Val1698=)
c.5214G>A (p.Val1738=)
c.5142G>A (p.Val1714=)
c.1908G>A (p.Val636=)
c.1770G>A (p.Val590=)
c.4332G>A (p.Val1444=)
c.5097G>A (p.Val1699=)
c.5286G>A (p.Val1762=)
c.5079G>A (p.Val1693=)
c.1782G>A (p.Val594=)
c.5283G>A (p.Val1761=)
c.1607G>A
c.1794G>A (p.Val598=)
c.*5003G>A (n.*5003G>A)
c.150G>A (p.Val50=)
c.693G>A (p.Val231=)
c.-98-6919G>A (n.-98-6919G>A)
n.5356G>A
n.5397G>A
 ClinVar dbSNP
17g.43057110A=CA2260766442BRCA1c.5216T= (p.Val1739=)
c.5219T= (p.Val1740=)
c.5093T= (p.Val1698=)
c.5213T= (p.Val1738=)
c.5141T= (p.Val1714=)
c.1907T= (p.Val636=)
c.1769T= (p.Val590=)
c.4331T= (p.Val1444=)
c.5096T= (p.Val1699=)
c.5285T= (p.Val1762=)
c.5078T= (p.Val1693=)
c.1781T= (p.Val594=)
c.5282T= (p.Val1761=)
c.1606T=
c.1793T= (p.Val598=)
c.*5002T= (n.*5002T=)
c.149T= (p.Val50=)
c.692T= (p.Val231=)
c.-98-6920T= (n.-98-6920T=)
n.5355T=
n.5396T=
17g.43057110A>CCA10591102BRCA1c.5216T>G (p.Val1739Gly)
c.5219T>G (p.Val1740Gly)
c.5093T>G (p.Val1698Gly)
c.5213T>G (p.Val1738Gly)
c.5141T>G (p.Val1714Gly)
c.1907T>G (p.Val636Gly)
c.1769T>G (p.Val590Gly)
c.4331T>G (p.Val1444Gly)
c.5096T>G (p.Val1699Gly)
c.5285T>G (p.Val1762Gly)
c.5078T>G (p.Val1693Gly)
c.1781T>G (p.Val594Gly)
c.5282T>G (p.Val1761Gly)
c.1606T>G
c.1793T>G (p.Val598Gly)
c.*5002T>G (n.*5002T>G)
c.149T>G (p.Val50Gly)
c.692T>G (p.Val231Gly)
c.-98-6920T>G (n.-98-6920T>G)
n.5355T>G
n.5396T>G
 ClinVar dbSNP
17g.43057110A>GCA10591103BRCA1c.5216T>C (p.Val1739Ala)
c.5219T>C (p.Val1740Ala)
c.5093T>C (p.Val1698Ala)
c.5213T>C (p.Val1738Ala)
c.5141T>C (p.Val1714Ala)
c.1907T>C (p.Val636Ala)
c.1769T>C (p.Val590Ala)
c.4331T>C (p.Val1444Ala)
c.5096T>C (p.Val1699Ala)
c.5285T>C (p.Val1762Ala)
c.5078T>C (p.Val1693Ala)
c.1781T>C (p.Val594Ala)
c.5282T>C (p.Val1761Ala)
c.1606T>C
c.1793T>C (p.Val598Ala)
c.*5002T>C (n.*5002T>C)
c.149T>C (p.Val50Ala)
c.692T>C (p.Val231Ala)
c.-98-6920T>C (n.-98-6920T>C)
n.5355T>C
n.5396T>C
 ClinVar dbSNP
17g.43057110A>TCA10591104BRCA1c.5216T>A (p.Val1739Glu)
c.5219T>A (p.Val1740Glu)
c.5093T>A (p.Val1698Glu)
c.5213T>A (p.Val1738Glu)
c.5141T>A (p.Val1714Glu)
c.1907T>A (p.Val636Glu)
c.1769T>A (p.Val590Glu)
c.4331T>A (p.Val1444Glu)
c.5096T>A (p.Val1699Glu)
c.5285T>A (p.Val1762Glu)
c.5078T>A (p.Val1693Glu)
c.1781T>A (p.Val594Glu)
c.5282T>A (p.Val1761Glu)
c.1606T>A
c.1793T>A (p.Val598Glu)
c.*5002T>A (n.*5002T>A)
c.149T>A (p.Val50Glu)
c.692T>A (p.Val231Glu)
c.-98-6920T>A (n.-98-6920T>A)
n.5355T>A
n.5396T>A
 dbSNP
17g.43057111C>ACA10591105BRCA1c.5215G>T (p.Val1739Leu)
c.5218G>T (p.Val1740Leu)
c.5092G>T (p.Val1698Leu)
c.5212G>T (p.Val1738Leu)
c.5140G>T (p.Val1714Leu)
c.1906G>T (p.Val636Leu)
c.1768G>T (p.Val590Leu)
c.4330G>T (p.Val1444Leu)
c.5095G>T (p.Val1699Leu)
c.5284G>T (p.Val1762Leu)
c.5077G>T (p.Val1693Leu)
c.1780G>T (p.Val594Leu)
c.5281G>T (p.Val1761Leu)
c.1605G>T
c.1792G>T (p.Val598Leu)
c.*5001G>T (n.*5001G>T)
c.148G>T (p.Val50Leu)
c.691G>T (p.Val231Leu)
c.-98-6921G>T (n.-98-6921G>T)
n.5354G>T
n.5395G>T
 dbSNP
17g.43057111C=CA2260766443BRCA1c.5215G= (p.Val1739=)
c.5218G= (p.Val1740=)
c.5092G= (p.Val1698=)
c.5212G= (p.Val1738=)
c.5140G= (p.Val1714=)
c.1906G= (p.Val636=)
c.1768G= (p.Val590=)
c.4330G= (p.Val1444=)
c.5095G= (p.Val1699=)
c.5284G= (p.Val1762=)
c.5077G= (p.Val1693=)
c.1780G= (p.Val594=)
c.5281G= (p.Val1761=)
c.1605G=
c.1792G= (p.Val598=)
c.*5001G= (n.*5001G=)
c.148G= (p.Val50=)
c.691G= (p.Val231=)
c.-98-6921G= (n.-98-6921G=)
n.5354G=
n.5395G=
17g.43057111C>GCA10591106BRCA1c.5215G>C (p.Val1739Leu)
c.5218G>C (p.Val1740Leu)
c.5092G>C (p.Val1698Leu)
c.5212G>C (p.Val1738Leu)
c.5140G>C (p.Val1714Leu)
c.1906G>C (p.Val636Leu)
c.1768G>C (p.Val590Leu)
c.4330G>C (p.Val1444Leu)
c.5095G>C (p.Val1699Leu)
c.5284G>C (p.Val1762Leu)
c.5077G>C (p.Val1693Leu)
c.1780G>C (p.Val594Leu)
c.5281G>C (p.Val1761Leu)
c.1605G>C
c.1792G>C (p.Val598Leu)
c.*5001G>C (n.*5001G>C)
c.148G>C (p.Val50Leu)
c.691G>C (p.Val231Leu)
c.-98-6921G>C (n.-98-6921G>C)
n.5354G>C
n.5395G>C
 ClinVar dbSNP
17g.43057111C>TCA10591107BRCA1c.5215G>A (p.Val1739Met)
c.5218G>A (p.Val1740Met)
c.5092G>A (p.Val1698Met)
c.5212G>A (p.Val1738Met)
c.5140G>A (p.Val1714Met)
c.1906G>A (p.Val636Met)
c.1768G>A (p.Val590Met)
c.4330G>A (p.Val1444Met)
c.5095G>A (p.Val1699Met)
c.5284G>A (p.Val1762Met)
c.5077G>A (p.Val1693Met)
c.1780G>A (p.Val594Met)
c.5281G>A (p.Val1761Met)
c.1605G>A
c.1792G>A (p.Val598Met)
c.*5001G>A (n.*5001G>A)
c.148G>A (p.Val50Met)
c.691G>A (p.Val231Met)
c.-98-6921G>A (n.-98-6921G>A)
n.5354G>A
n.5395G>A
 dbSNP
17g.43057112A=CA2260766446BRCA1c.5214T= (p.Asp1738=)
c.5217T= (p.Asp1739=)
c.5091T= (p.Asp1697=)
c.5211T= (p.Asp1737=)
c.5139T= (p.Asp1713=)
c.1905T= (p.Asp635=)
c.1767T= (p.Asp589=)
c.4329T= (p.Asp1443=)
c.5094T= (p.Asp1698=)
c.5283T= (p.Asp1761=)
c.5076T= (p.Asp1692=)
c.1779T= (p.Asp593=)
c.5280T= (p.Asp1760=)
c.1604T=
c.1791T= (p.Asp597=)
c.*5000T= (n.*5000T=)
c.147T= (p.Asp49=)
c.690T= (p.Asp230=)
c.-98-6922T= (n.-98-6922T=)
n.5353T=
n.5394T=
17g.43057112A>CCA003370BRCA1c.5214T>G (p.Asp1738Glu)
c.5217T>G (p.Asp1739Glu)
c.5091T>G (p.Asp1697Glu)
c.5211T>G (p.Asp1737Glu)
c.5139T>G (p.Asp1713Glu)
c.1905T>G (p.Asp635Glu)
c.1767T>G (p.Asp589Glu)
c.4329T>G (p.Asp1443Glu)
c.5094T>G (p.Asp1698Glu)
c.5283T>G (p.Asp1761Glu)
c.5076T>G (p.Asp1692Glu)
c.1779T>G (p.Asp593Glu)
c.5280T>G (p.Asp1760Glu)
c.1604T>G
c.1791T>G (p.Asp597Glu)
c.*5000T>G (n.*5000T>G)
c.147T>G (p.Asp49Glu)
c.690T>G (p.Asp230Glu)
c.-98-6922T>G (n.-98-6922T>G)
n.5353T>G
n.5394T>G
 ClinVar dbSNP
17g.43057112A>GCA500144793BRCA1c.5214T>C (p.Asp1738=)
c.5217T>C (p.Asp1739=)
c.5091T>C (p.Asp1697=)
c.5211T>C (p.Asp1737=)
c.5139T>C (p.Asp1713=)
c.1905T>C (p.Asp635=)
c.1767T>C (p.Asp589=)
c.4329T>C (p.Asp1443=)
c.5094T>C (p.Asp1698=)
c.5283T>C (p.Asp1761=)
c.5076T>C (p.Asp1692=)
c.1779T>C (p.Asp593=)
c.5280T>C (p.Asp1760=)
c.1604T>C
c.1791T>C (p.Asp597=)
c.*5000T>C (n.*5000T>C)
c.147T>C (p.Asp49=)
c.690T>C (p.Asp230=)
c.-98-6922T>C (n.-98-6922T>C)
n.5353T>C
n.5394T>C
 ClinVar dbSNP
17g.43057112A>TCA10591108BRCA1c.5214T>A (p.Asp1738Glu)
c.5217T>A (p.Asp1739Glu)
c.5091T>A (p.Asp1697Glu)
c.5211T>A (p.Asp1737Glu)
c.5139T>A (p.Asp1713Glu)
c.1905T>A (p.Asp635Glu)
c.1767T>A (p.Asp589Glu)
c.4329T>A (p.Asp1443Glu)
c.5094T>A (p.Asp1698Glu)
c.5283T>A (p.Asp1761Glu)
c.5076T>A (p.Asp1692Glu)
c.1779T>A (p.Asp593Glu)
c.5280T>A (p.Asp1760Glu)
c.1604T>A
c.1791T>A (p.Asp597Glu)
c.*5000T>A (n.*5000T>A)
c.147T>A (p.Asp49Glu)
c.690T>A (p.Asp230Glu)
c.-98-6922T>A (n.-98-6922T>A)
n.5353T>A
n.5394T>A
 ClinVar dbSNP
17g.43057112_43057113delinsATCA2260766444BRCA1c.5213_5214delinsAT (p.Asp1738=)
c.5216_5217delinsAT (p.Asp1739=)
c.5090_5091delinsAT (p.Asp1697=)
c.5210_5211delinsAT (p.Asp1737=)
c.5138_5139delinsAT (p.Asp1713=)
c.1904_1905delinsAT (p.Asp635=)
c.1766_1767delinsAT (p.Asp589=)
c.4328_4329delinsAT (p.Asp1443=)
c.5093_5094delinsAT (p.Asp1698=)
c.5282_5283delinsAT (p.Asp1761=)
c.5075_5076delinsAT (p.Asp1692=)
c.1778_1779delinsAT (p.Asp593=)
c.5279_5280delinsAT (p.Asp1760=)
c.1603_1604delinsAT
c.1790_1791delinsAT (p.Asp597=)
c.*4999_*5000delinsAT (n.*4999_*5000delinsAT)
c.146_147delinsAT (p.Asp49=)
c.689_690delinsAT (p.Asp230=)
c.-98-6923_-98-6922delinsAT (n.-98-6923_-98-6922delinsAT)
n.5352_5353delinsAT
n.5393_5394delinsAT
17g.43057112_43057114delinsATCCA2260766445BRCA1c.5212_5214delinsGAT (p.Asp1738=)
c.5215_5217delinsGAT (p.Asp1739=)
c.5089_5091delinsGAT (p.Asp1697=)
c.5209_5211delinsGAT (p.Asp1737=)
c.5137_5139delinsGAT (p.Asp1713=)
c.1903_1905delinsGAT (p.Asp635=)
c.1765_1767delinsGAT (p.Asp589=)
c.4327_4329delinsGAT (p.Asp1443=)
c.5092_5094delinsGAT (p.Asp1698=)
c.5281_5283delinsGAT (p.Asp1761=)
c.5074_5076delinsGAT (p.Asp1692=)
c.1777_1779delinsGAT (p.Asp593=)
c.5278_5280delinsGAT (p.Asp1760=)
c.1602_1604delinsGAT
c.1789_1791delinsGAT (p.Asp597=)
c.*4998_*5000delinsGAT (n.*4998_*5000delinsGAT)
c.145_147delinsGAT (p.Asp49=)
c.688_690delinsGAT (p.Asp230=)
c.-98-6924_-98-6922delinsGAT (n.-98-6924_-98-6922delinsGAT)
n.5351_5353delinsGAT
n.5392_5394delinsGAT
17g.43057113delCA916081182BRCA1c.5213del (p.Asp1738ValfsTer26)
c.5216del (p.Asp1739ValfsTer26)
c.5090del (p.Asp1697ValfsTer26)
c.5210del (p.Asp1737ValfsTer26)
c.5138del (p.Asp1713ValfsTer26)
c.1904del (p.Asp635ValfsTer26)
c.1766del (p.Asp589ValfsTer26)
c.4328del (p.Asp1443ValfsTer26)
c.5093del (p.Asp1698ValfsTer26)
c.5282del (p.Asp1761ValfsTer26)
c.5075del (p.Asp1692ValfsTer26)
c.1778del (p.Asp593ValfsTer26)
c.5279del (p.Asp1760ValfsTer26)
c.1603del
c.1790del (p.Asp597ValfsTer26)
c.*4999del (n.*4999del)
c.146del (p.Asp49ValfsTer26)
c.689del (p.Asp230ValfsTer26)
c.-98-6923del (n.-98-6923del)
n.5352del
n.5393del
 ClinVar dbSNP
17g.43057113T>ACA003368BRCA1c.5213A>T (p.Asp1738Val)
c.5216A>T (p.Asp1739Val)
c.5090A>T (p.Asp1697Val)
c.5210A>T (p.Asp1737Val)
c.5138A>T (p.Asp1713Val)
c.1904A>T (p.Asp635Val)
c.1766A>T (p.Asp589Val)
c.4328A>T (p.Asp1443Val)
c.5093A>T (p.Asp1698Val)
c.5282A>T (p.Asp1761Val)
c.5075A>T (p.Asp1692Val)
c.1778A>T (p.Asp593Val)
c.5279A>T (p.Asp1760Val)
c.1603A>T
c.1790A>T (p.Asp597Val)
c.*4999A>T (n.*4999A>T)
c.146A>T (p.Asp49Val)
c.689A>T (p.Asp230Val)
c.-98-6923A>T (n.-98-6923A>T)
n.5352A>T
n.5393A>T
 ClinVar dbSNP COSMIC COSMIC
17g.43057113T>CCA003367BRCA1c.5213A>G (p.Asp1738Gly)
c.5216A>G (p.Asp1739Gly)
c.5090A>G (p.Asp1697Gly)
c.5210A>G (p.Asp1737Gly)
c.5138A>G (p.Asp1713Gly)
c.1904A>G (p.Asp635Gly)
c.1766A>G (p.Asp589Gly)
c.4328A>G (p.Asp1443Gly)
c.5093A>G (p.Asp1698Gly)
c.5282A>G (p.Asp1761Gly)
c.5075A>G (p.Asp1692Gly)
c.1778A>G (p.Asp593Gly)
c.5279A>G (p.Asp1760Gly)
c.1603A>G
c.1790A>G (p.Asp597Gly)
c.*4999A>G (n.*4999A>G)
c.146A>G (p.Asp49Gly)
c.689A>G (p.Asp230Gly)
c.-98-6923A>G (n.-98-6923A>G)
n.5352A>G
n.5393A>G
 ClinVar dbSNP gnomAD v4
17g.43057113T>GCA10591109BRCA1c.5213A>C (p.Asp1738Ala)
c.5216A>C (p.Asp1739Ala)
c.5090A>C (p.Asp1697Ala)
c.5210A>C (p.Asp1737Ala)
c.5138A>C (p.Asp1713Ala)
c.1904A>C (p.Asp635Ala)
c.1766A>C (p.Asp589Ala)
c.4328A>C (p.Asp1443Ala)
c.5093A>C (p.Asp1698Ala)
c.5282A>C (p.Asp1761Ala)
c.5075A>C (p.Asp1692Ala)
c.1778A>C (p.Asp593Ala)
c.5279A>C (p.Asp1760Ala)
c.1603A>C
c.1790A>C (p.Asp597Ala)
c.*4999A>C (n.*4999A>C)
c.146A>C (p.Asp49Ala)
c.689A>C (p.Asp230Ala)
c.-98-6923A>C (n.-98-6923A>C)
n.5352A>C
n.5393A>C
 ClinVar dbSNP
17g.43057113T=CA2260766447BRCA1c.5213A= (p.Asp1738=)
c.5216A= (p.Asp1739=)
c.5090A= (p.Asp1697=)
c.5210A= (p.Asp1737=)
c.5138A= (p.Asp1713=)
c.1904A= (p.Asp635=)
c.1766A= (p.Asp589=)
c.4328A= (p.Asp1443=)
c.5093A= (p.Asp1698=)
c.5282A= (p.Asp1761=)
c.5075A= (p.Asp1692=)
c.1778A= (p.Asp593=)
c.5279A= (p.Asp1760=)
c.1603A=
c.1790A= (p.Asp597=)
c.*4999A= (n.*4999A=)
c.146A= (p.Asp49=)
c.689A= (p.Asp230=)
c.-98-6923A= (n.-98-6923A=)
n.5352A=
n.5393A=
17g.43057113_43057116delinsTCTCCA2260766448BRCA1c.5210_5213delinsGAGA (p.Gly1737=)
c.5213_5216delinsGAGA (p.Gly1738=)
c.5087_5090delinsGAGA (p.Gly1696=)
c.5207_5210delinsGAGA (p.Gly1736=)
c.5135_5138delinsGAGA (p.Gly1712=)
c.1901_1904delinsGAGA (p.Gly634=)
c.1763_1766delinsGAGA (p.Gly588=)
c.4325_4328delinsGAGA (p.Gly1442=)
c.5090_5093delinsGAGA (p.Gly1697=)
c.5279_5282delinsGAGA (p.Gly1760=)
c.5072_5075delinsGAGA (p.Gly1691=)
c.1775_1778delinsGAGA (p.Gly592=)
c.5276_5279delinsGAGA (p.Gly1759=)
c.1600_1603delinsGAGA
c.1787_1790delinsGAGA (p.Gly596=)
c.*4996_*4999delinsGAGA (n.*4996_*4999delinsGAGA)
c.143_146delinsGAGA (p.Gly48=)
c.686_689delinsGAGA (p.Gly229=)
c.-98-6926_-98-6923delinsGAGA (n.-98-6926_-98-6923delinsGAGA)
n.5349_5352delinsGAGA
n.5390_5393delinsGAGA
17g.43057115_43057116delCA16620421BRCA1c.5212_5213del (p.Asp1738CysfsTer?)
c.5215_5216del (p.Asp1739CysfsTer?)
c.5089_5090del (p.Asp1697CysfsTer?)
c.5209_5210del (p.Asp1737CysfsTer?)
c.5137_5138del (p.Asp1713CysfsTer?)
c.1903_1904del (p.Asp635CysfsTer?)
c.1765_1766del (p.Asp589CysfsTer?)
c.4327_4328del (p.Asp1443CysfsTer?)
c.5092_5093del (p.Asp1698CysfsTer?)
c.5281_5282del (p.Asp1761CysfsTer?)
c.5074_5075del (p.Asp1692CysfsTer?)
c.1777_1778del (p.Asp593CysfsTer?)
c.5278_5279del (p.Asp1760CysfsTer?)
c.1602_1603del
c.1789_1790del (p.Asp597CysfsTer?)
c.*4998_*4999del (n.*4998_*4999del)
c.145_146del (p.Asp49CysfsTer?)
c.688_689del (p.Asp230CysfsTer?)
c.-98-6924_-98-6923del (n.-98-6924_-98-6923del)
n.5351_5352del
n.5392_5393del
 ClinVar dbSNP
17g.43057114C>ACA003366BRCA1c.5212G>T (p.Asp1738Tyr)
c.5215G>T (p.Asp1739Tyr)
c.5089G>T (p.Asp1697Tyr)
c.5209G>T (p.Asp1737Tyr)
c.5137G>T (p.Asp1713Tyr)
c.1903G>T (p.Asp635Tyr)
c.1765G>T (p.Asp589Tyr)
c.4327G>T (p.Asp1443Tyr)
c.5092G>T (p.Asp1698Tyr)
c.5281G>T (p.Asp1761Tyr)
c.5074G>T (p.Asp1692Tyr)
c.1777G>T (p.Asp593Tyr)
c.5278G>T (p.Asp1760Tyr)
c.1602G>T
c.1789G>T (p.Asp597Tyr)
c.*4998G>T (n.*4998G>T)
c.145G>T (p.Asp49Tyr)
c.688G>T (p.Asp230Tyr)
c.-98-6924G>T (n.-98-6924G>T)
n.5351G>T
n.5392G>T
 ClinVar dbSNP
17g.43057114C=CA2260766449BRCA1c.5212G= (p.Asp1738=)
c.5215G= (p.Asp1739=)
c.5089G= (p.Asp1697=)
c.5209G= (p.Asp1737=)
c.5137G= (p.Asp1713=)
c.1903G= (p.Asp635=)
c.1765G= (p.Asp589=)
c.4327G= (p.Asp1443=)
c.5092G= (p.Asp1698=)
c.5281G= (p.Asp1761=)
c.5074G= (p.Asp1692=)
c.1777G= (p.Asp593=)
c.5278G= (p.Asp1760=)
c.1602G=
c.1789G= (p.Asp597=)
c.*4998G= (n.*4998G=)
c.145G= (p.Asp49=)
c.688G= (p.Asp230=)
c.-98-6924G= (n.-98-6924G=)
n.5351G=
n.5392G=
17g.43057114C>GCA10591110BRCA1c.5212G>C (p.Asp1738His)
c.5215G>C (p.Asp1739His)
c.5089G>C (p.Asp1697His)
c.5209G>C (p.Asp1737His)
c.5137G>C (p.Asp1713His)
c.1903G>C (p.Asp635His)
c.1765G>C (p.Asp589His)
c.4327G>C (p.Asp1443His)
c.5092G>C (p.Asp1698His)
c.5281G>C (p.Asp1761His)
c.5074G>C (p.Asp1692His)
c.1777G>C (p.Asp593His)
c.5278G>C (p.Asp1760His)
c.1602G>C
c.1789G>C (p.Asp597His)
c.*4998G>C (n.*4998G>C)
c.145G>C (p.Asp49His)
c.688G>C (p.Asp230His)
c.-98-6924G>C (n.-98-6924G>C)
n.5351G>C
n.5392G>C
 ClinVar dbSNP
17g.43057114C>TCA10591111BRCA1c.5212G>A (p.Asp1738Asn)
c.5215G>A (p.Asp1739Asn)
c.5089G>A (p.Asp1697Asn)
c.5209G>A (p.Asp1737Asn)
c.5137G>A (p.Asp1713Asn)
c.1903G>A (p.Asp635Asn)
c.1765G>A (p.Asp589Asn)
c.4327G>A (p.Asp1443Asn)
c.5092G>A (p.Asp1698Asn)
c.5281G>A (p.Asp1761Asn)
c.5074G>A (p.Asp1692Asn)
c.1777G>A (p.Asp593Asn)
c.5278G>A (p.Asp1760Asn)
c.1602G>A
c.1789G>A (p.Asp597Asn)
c.*4998G>A (n.*4998G>A)
c.145G>A (p.Asp49Asn)
c.688G>A (p.Asp230Asn)
c.-98-6924G>A (n.-98-6924G>A)
n.5351G>A
n.5392G>A
 ClinVar dbSNP gnomAD v4
17g.43057117_43057119delCA003364BRCA1c.5210_5212del (p.Gly1737del)
c.5213_5215del (p.Gly1738del)
c.5087_5089del (p.Gly1696del)
c.5207_5209del (p.Gly1736del)
c.5135_5137del (p.Gly1712del)
c.1901_1903del (p.Gly634del)
c.1763_1765del (p.Gly588del)
c.4325_4327del (p.Gly1442del)
c.5090_5092del (p.Gly1697del)
c.5279_5281del (p.Gly1760del)
c.5072_5074del (p.Gly1691del)
c.1775_1777del (p.Gly592del)
c.5276_5278del (p.Gly1759del)
c.1600_1602del
c.1787_1789del (p.Gly596del)
c.*4996_*4998del (n.*4996_*4998del)
c.143_145del (p.Gly48del)
c.686_688del (p.Gly229del)
c.-98-6926_-98-6924del (n.-98-6926_-98-6924del)
n.5349_5351del
n.5390_5392del
 ClinVar dbSNP
17g.43057115delCA2695226114BRCA1c.5211del (p.Asp1738MetfsTer26)
c.5214del (p.Asp1739MetfsTer26)
c.5088del (p.Asp1697MetfsTer26)
c.5208del (p.Asp1737MetfsTer26)
c.5136del (p.Asp1713MetfsTer26)
c.1902del (p.Asp635MetfsTer26)
c.1764del (p.Asp589MetfsTer26)
c.4326del (p.Asp1443MetfsTer26)
c.5091del (p.Asp1698MetfsTer26)
c.5280del (p.Asp1761MetfsTer26)
c.5073del (p.Asp1692MetfsTer26)
c.1776del (p.Asp593MetfsTer26)
c.5277del (p.Asp1760MetfsTer26)
c.1601del
c.1788del (p.Asp597MetfsTer26)
c.*4997del (n.*4997del)
c.144del (p.Asp49MetfsTer26)
c.687del (p.Asp230MetfsTer26)
c.-98-6925del (n.-98-6925del)
n.5350del
n.5391del
17g.43057115T>ACA500144807BRCA1c.5211A>T (p.Gly1737=)
c.5214A>T (p.Gly1738=)
c.5088A>T (p.Gly1696=)
c.5208A>T (p.Gly1736=)
c.5136A>T (p.Gly1712=)
c.1902A>T (p.Gly634=)
c.1764A>T (p.Gly588=)
c.4326A>T (p.Gly1442=)
c.5091A>T (p.Gly1697=)
c.5280A>T (p.Gly1760=)
c.5073A>T (p.Gly1691=)
c.1776A>T (p.Gly592=)
c.5277A>T (p.Gly1759=)
c.1601A>T
c.1788A>T (p.Gly596=)
c.*4997A>T (n.*4997A>T)
c.144A>T (p.Gly48=)
c.687A>T (p.Gly229=)
c.-98-6925A>T (n.-98-6925A>T)
n.5350A>T
n.5391A>T
 ClinVar dbSNP
17g.43057115T>CCA500144809BRCA1c.5211A>G (p.Gly1737=)
c.5214A>G (p.Gly1738=)
c.5088A>G (p.Gly1696=)
c.5208A>G (p.Gly1736=)
c.5136A>G (p.Gly1712=)
c.1902A>G (p.Gly634=)
c.1764A>G (p.Gly588=)
c.4326A>G (p.Gly1442=)
c.5091A>G (p.Gly1697=)
c.5280A>G (p.Gly1760=)
c.5073A>G (p.Gly1691=)
c.1776A>G (p.Gly592=)
c.5277A>G (p.Gly1759=)
c.1601A>G
c.1788A>G (p.Gly596=)
c.*4997A>G (n.*4997A>G)
c.144A>G (p.Gly48=)
c.687A>G (p.Gly229=)
c.-98-6925A>G (n.-98-6925A>G)
n.5350A>G
n.5391A>G
 ClinVar dbSNP
17g.43057115T>GCA500144811BRCA1c.5211A>C (p.Gly1737=)
c.5214A>C (p.Gly1738=)
c.5088A>C (p.Gly1696=)
c.5208A>C (p.Gly1736=)
c.5136A>C (p.Gly1712=)
c.1902A>C (p.Gly634=)
c.1764A>C (p.Gly588=)
c.4326A>C (p.Gly1442=)
c.5091A>C (p.Gly1697=)
c.5280A>C (p.Gly1760=)
c.5073A>C (p.Gly1691=)
c.1776A>C (p.Gly592=)
c.5277A>C (p.Gly1759=)
c.1601A>C
c.1788A>C (p.Gly596=)
c.*4997A>C (n.*4997A>C)
c.144A>C (p.Gly48=)
c.687A>C (p.Gly229=)
c.-98-6925A>C (n.-98-6925A>C)
n.5350A>C
n.5391A>C
 ClinVar dbSNP
17g.43057115T=CA2260766451BRCA1c.5211A= (p.Gly1737=)
c.5214A= (p.Gly1738=)
c.5088A= (p.Gly1696=)
c.5208A= (p.Gly1736=)
c.5136A= (p.Gly1712=)
c.1902A= (p.Gly634=)
c.1764A= (p.Gly588=)
c.4326A= (p.Gly1442=)
c.5091A= (p.Gly1697=)
c.5280A= (p.Gly1760=)
c.5073A= (p.Gly1691=)
c.1776A= (p.Gly592=)
c.5277A= (p.Gly1759=)
c.1601A=
c.1788A= (p.Gly596=)
c.*4997A= (n.*4997A=)
c.144A= (p.Gly48=)
c.687A= (p.Gly229=)
c.-98-6925A= (n.-98-6925A=)
n.5350A=
n.5391A=
17g.43057115_43057116delinsTCCA2260766450BRCA1c.5210_5211delinsGA (p.Gly1737=)
c.5213_5214delinsGA (p.Gly1738=)
c.5087_5088delinsGA (p.Gly1696=)
c.5207_5208delinsGA (p.Gly1736=)
c.5135_5136delinsGA (p.Gly1712=)
c.1901_1902delinsGA (p.Gly634=)
c.1763_1764delinsGA (p.Gly588=)
c.4325_4326delinsGA (p.Gly1442=)
c.5090_5091delinsGA (p.Gly1697=)
c.5279_5280delinsGA (p.Gly1760=)
c.5072_5073delinsGA (p.Gly1691=)
c.1775_1776delinsGA (p.Gly592=)
c.5276_5277delinsGA (p.Gly1759=)
c.1600_1601delinsGA
c.1787_1788delinsGA (p.Gly596=)
c.*4996_*4997delinsGA (n.*4996_*4997delinsGA)
c.143_144delinsGA (p.Gly48=)
c.686_687delinsGA (p.Gly229=)
c.-98-6926_-98-6925delinsGA (n.-98-6926_-98-6925delinsGA)
n.5349_5350delinsGA
n.5390_5391delinsGA
17g.43057116C>ACA10591112BRCA1c.5210G>T (p.Gly1737Val)
c.5213G>T (p.Gly1738Val)
c.5087G>T (p.Gly1696Val)
c.5207G>T (p.Gly1736Val)
c.5135G>T (p.Gly1712Val)
c.1901G>T (p.Gly634Val)
c.1763G>T (p.Gly588Val)
c.4325G>T (p.Gly1442Val)
c.5090G>T (p.Gly1697Val)
c.5279G>T (p.Gly1760Val)
c.5072G>T (p.Gly1691Val)
c.1775G>T (p.Gly592Val)
c.5276G>T (p.Gly1759Val)
c.1600G>T
c.1787G>T (p.Gly596Val)
c.*4996G>T (n.*4996G>T)
c.143G>T (p.Gly48Val)
c.686G>T (p.Gly229Val)
c.-98-6926G>T (n.-98-6926G>T)
n.5349G>T
n.5390G>T
 ClinVar dbSNP
17g.43057116C=CA2260766452BRCA1c.5210G= (p.Gly1737=)
c.5213G= (p.Gly1738=)
c.5087G= (p.Gly1696=)
c.5207G= (p.Gly1736=)
c.5135G= (p.Gly1712=)
c.1901G= (p.Gly634=)
c.1763G= (p.Gly588=)
c.4325G= (p.Gly1442=)
c.5090G= (p.Gly1697=)
c.5279G= (p.Gly1760=)
c.5072G= (p.Gly1691=)
c.1775G= (p.Gly592=)
c.5276G= (p.Gly1759=)
c.1600G=
c.1787G= (p.Gly596=)
c.*4996G= (n.*4996G=)
c.143G= (p.Gly48=)
c.686G= (p.Gly229=)
c.-98-6926G= (n.-98-6926G=)
n.5349G=
n.5390G=
17g.43057116C>GCA10591113BRCA1c.5210G>C (p.Gly1737Ala)
c.5213G>C (p.Gly1738Ala)
c.5087G>C (p.Gly1696Ala)
c.5207G>C (p.Gly1736Ala)
c.5135G>C (p.Gly1712Ala)
c.1901G>C (p.Gly634Ala)
c.1763G>C (p.Gly588Ala)
c.4325G>C (p.Gly1442Ala)
c.5090G>C (p.Gly1697Ala)
c.5279G>C (p.Gly1760Ala)
c.5072G>C (p.Gly1691Ala)
c.1775G>C (p.Gly592Ala)
c.5276G>C (p.Gly1759Ala)
c.1600G>C
c.1787G>C (p.Gly596Ala)
c.*4996G>C (n.*4996G>C)
c.143G>C (p.Gly48Ala)
c.686G>C (p.Gly229Ala)
c.-98-6926G>C (n.-98-6926G>C)
n.5349G>C
n.5390G>C
 ClinVar dbSNP
17g.43057116C>TCA003365BRCA1c.5210G>A (p.Gly1737Glu)
c.5213G>A (p.Gly1738Glu)
c.5087G>A (p.Gly1696Glu)
c.5207G>A (p.Gly1736Glu)
c.5135G>A (p.Gly1712Glu)
c.1901G>A (p.Gly634Glu)
c.1763G>A (p.Gly588Glu)
c.4325G>A (p.Gly1442Glu)
c.5090G>A (p.Gly1697Glu)
c.5279G>A (p.Gly1760Glu)
c.5072G>A (p.Gly1691Glu)
c.1775G>A (p.Gly592Glu)
c.5276G>A (p.Gly1759Glu)
c.1600G>A
c.1787G>A (p.Gly596Glu)
c.*4996G>A (n.*4996G>A)
c.143G>A (p.Gly48Glu)
c.686G>A (p.Gly229Glu)
c.-98-6926G>A (n.-98-6926G>A)
n.5349G>A
n.5390G>A
 ClinVar dbSNP
17g.43057117delCA10589609BRCA1c.5210del (p.Gly1737GlufsTer27)
c.5213del (p.Gly1738GlufsTer27)
c.5087del (p.Gly1696GlufsTer27)
c.5207del (p.Gly1736GlufsTer27)
c.5135del (p.Gly1712GlufsTer27)
c.1901del (p.Gly634GlufsTer27)
c.1763del (p.Gly588GlufsTer27)
c.4325del (p.Gly1442GlufsTer27)
c.5090del (p.Gly1697GlufsTer27)
c.5279del (p.Gly1760GlufsTer27)
c.5072del (p.Gly1691GlufsTer27)
c.1775del (p.Gly592GlufsTer27)
c.5276del (p.Gly1759GlufsTer27)
c.1600del
c.1787del (p.Gly596GlufsTer27)
c.*4996del (n.*4996del)
c.143del (p.Gly48GlufsTer27)
c.686del (p.Gly229GlufsTer27)
c.-98-6926del (n.-98-6926del)
n.5349del
n.5390del
 ClinVar dbSNP
17g.43057116_43057118delinsCCTCA2260766453BRCA1c.5208_5210delinsAGG (p.Arg1736=)
c.5211_5213delinsAGG (p.Arg1737=)
c.5085_5087delinsAGG (p.Arg1695=)
c.5205_5207delinsAGG (p.Arg1735=)
c.5133_5135delinsAGG (p.Arg1711=)
c.1899_1901delinsAGG (p.Arg633=)
c.1761_1763delinsAGG (p.Arg587=)
c.4323_4325delinsAGG (p.Arg1441=)
c.5088_5090delinsAGG (p.Arg1696=)
c.5277_5279delinsAGG (p.Arg1759=)
c.5070_5072delinsAGG (p.Arg1690=)
c.1773_1775delinsAGG (p.Arg591=)
c.5274_5276delinsAGG (p.Arg1758=)
c.1598_1600delinsAGG
c.1785_1787delinsAGG (p.Arg595=)
c.*4994_*4996delinsAGG (n.*4994_*4996delinsAGG)
c.141_143delinsAGG (p.Arg47=)
c.684_686delinsAGG (p.Arg228=)
c.-98-6928_-98-6926delinsAGG (n.-98-6928_-98-6926delinsAGG)
n.5347_5349delinsAGG
n.5388_5390delinsAGG
17g.43057117C>ACA10589610BRCA1c.5209G>T (p.Gly1737Ter)
c.5212G>T (p.Gly1738Ter)
c.5086G>T (p.Gly1696Ter)
c.5206G>T (p.Gly1736Ter)
c.5134G>T (p.Gly1712Ter)
c.1900G>T (p.Gly634Ter)
c.1762G>T (p.Gly588Ter)
c.4324G>T (p.Gly1442Ter)
c.5089G>T (p.Gly1697Ter)
c.5278G>T (p.Gly1760Ter)
c.5071G>T (p.Gly1691Ter)
c.1774G>T (p.Gly592Ter)
c.5275G>T (p.Gly1759Ter)
c.1599G>T
c.1786G>T (p.Gly596Ter)
c.*4995G>T (n.*4995G>T)
c.142G>T (p.Gly48Ter)
c.685G>T (p.Gly229Ter)
c.-98-6927G>T (n.-98-6927G>T)
n.5348G>T
n.5389G>T
 ClinVar dbSNP
17g.43057117C=CA2260766454BRCA1c.5209G= (p.Gly1737=)
c.5212G= (p.Gly1738=)
c.5086G= (p.Gly1696=)
c.5206G= (p.Gly1736=)
c.5134G= (p.Gly1712=)
c.1900G= (p.Gly634=)
c.1762G= (p.Gly588=)
c.4324G= (p.Gly1442=)
c.5089G= (p.Gly1697=)
c.5278G= (p.Gly1760=)
c.5071G= (p.Gly1691=)
c.1774G= (p.Gly592=)
c.5275G= (p.Gly1759=)
c.1599G=
c.1786G= (p.Gly596=)
c.*4995G= (n.*4995G=)
c.142G= (p.Gly48=)
c.685G= (p.Gly229=)
c.-98-6927G= (n.-98-6927G=)
n.5348G=
n.5389G=
17g.43057117C>GCA10591114BRCA1c.5209G>C (p.Gly1737Arg)
c.5212G>C (p.Gly1738Arg)
c.5086G>C (p.Gly1696Arg)
c.5206G>C (p.Gly1736Arg)
c.5134G>C (p.Gly1712Arg)
c.1900G>C (p.Gly634Arg)
c.1762G>C (p.Gly588Arg)
c.4324G>C (p.Gly1442Arg)
c.5089G>C (p.Gly1697Arg)
c.5278G>C (p.Gly1760Arg)
c.5071G>C (p.Gly1691Arg)
c.1774G>C (p.Gly592Arg)
c.5275G>C (p.Gly1759Arg)
c.1599G>C
c.1786G>C (p.Gly596Arg)
c.*4995G>C (n.*4995G>C)
c.142G>C (p.Gly48Arg)
c.685G>C (p.Gly229Arg)
c.-98-6927G>C (n.-98-6927G>C)
n.5348G>C
n.5389G>C
 ClinVar dbSNP
17g.43057117C>TCA003363BRCA1c.5209G>A (p.Gly1737Arg)
c.5212G>A (p.Gly1738Arg)
c.5086G>A (p.Gly1696Arg)
c.5206G>A (p.Gly1736Arg)
c.5134G>A (p.Gly1712Arg)
c.1900G>A (p.Gly634Arg)
c.1762G>A (p.Gly588Arg)
c.4324G>A (p.Gly1442Arg)
c.5089G>A (p.Gly1697Arg)
c.5278G>A (p.Gly1760Arg)
c.5071G>A (p.Gly1691Arg)
c.1774G>A (p.Gly592Arg)
c.5275G>A (p.Gly1759Arg)
c.1599G>A
c.1786G>A (p.Gly596Arg)
c.*4995G>A (n.*4995G>A)
c.142G>A (p.Gly48Arg)
c.685G>A (p.Gly229Arg)
c.-98-6927G>A (n.-98-6927G>A)
n.5348G>A
n.5389G>A
 ClinVar dbSNP
17g.43057119_43057120delCA658798061BRCA1c.5208_5209del (p.Gly1737ArgfsTer?)
c.5211_5212del (p.Gly1738ArgfsTer?)
c.5085_5086del (p.Gly1696ArgfsTer?)
c.5205_5206del (p.Gly1736ArgfsTer?)
c.5133_5134del (p.Gly1712ArgfsTer?)
c.1899_1900del (p.Gly634ArgfsTer?)
c.1761_1762del (p.Gly588ArgfsTer?)
c.4323_4324del (p.Gly1442ArgfsTer?)
c.5088_5089del (p.Gly1697ArgfsTer?)
c.5277_5278del (p.Gly1760ArgfsTer?)
c.5070_5071del (p.Gly1691ArgfsTer?)
c.1773_1774del (p.Gly592ArgfsTer?)
c.5274_5275del (p.Gly1759ArgfsTer?)
c.1598_1599del
c.1785_1786del (p.Gly596ArgfsTer?)
c.*4994_*4995del (n.*4994_*4995del)
c.141_142del (p.Gly48ArgfsTer?)
c.684_685del (p.Gly229ArgfsTer?)
c.-98-6928_-98-6927del (n.-98-6928_-98-6927del)
n.5347_5348del
n.5388_5389del
 ClinVar dbSNP
17g.43057118T>ACA10591115BRCA1c.5208A>T (p.Arg1736Ser)
c.5211A>T (p.Arg1737Ser)
c.5085A>T (p.Arg1695Ser)
c.5205A>T (p.Arg1735Ser)
c.5133A>T (p.Arg1711Ser)
c.1899A>T (p.Arg633Ser)
c.1761A>T (p.Arg587Ser)
c.4323A>T (p.Arg1441Ser)
c.5088A>T (p.Arg1696Ser)
c.5277A>T (p.Arg1759Ser)
c.5070A>T (p.Arg1690Ser)
c.1773A>T (p.Arg591Ser)
c.5274A>T (p.Arg1758Ser)
c.1598A>T
c.1785A>T (p.Arg595Ser)
c.*4994A>T (n.*4994A>T)
c.141A>T (p.Arg47Ser)
c.684A>T (p.Arg228Ser)
c.-98-6928A>T (n.-98-6928A>T)
n.5347A>T
n.5388A>T
 ClinVar dbSNP
17g.43057118T>CCA500144828BRCA1c.5208A>G (p.Arg1736=)
c.5211A>G (p.Arg1737=)
c.5085A>G (p.Arg1695=)
c.5205A>G (p.Arg1735=)
c.5133A>G (p.Arg1711=)
c.1899A>G (p.Arg633=)
c.1761A>G (p.Arg587=)
c.4323A>G (p.Arg1441=)
c.5088A>G (p.Arg1696=)
c.5277A>G (p.Arg1759=)
c.5070A>G (p.Arg1690=)
c.1773A>G (p.Arg591=)
c.5274A>G (p.Arg1758=)
c.1598A>G
c.1785A>G (p.Arg595=)
c.*4994A>G (n.*4994A>G)
c.141A>G (p.Arg47=)
c.684A>G (p.Arg228=)
c.-98-6928A>G (n.-98-6928A>G)
n.5347A>G
n.5388A>G
 ClinVar dbSNP gnomAD v4
17g.43057118T>GCA10591116BRCA1c.5208A>C (p.Arg1736Ser)
c.5211A>C (p.Arg1737Ser)
c.5085A>C (p.Arg1695Ser)
c.5205A>C (p.Arg1735Ser)
c.5133A>C (p.Arg1711Ser)
c.1899A>C (p.Arg633Ser)
c.1761A>C (p.Arg587Ser)
c.4323A>C (p.Arg1441Ser)
c.5088A>C (p.Arg1696Ser)
c.5277A>C (p.Arg1759Ser)
c.5070A>C (p.Arg1690Ser)
c.1773A>C (p.Arg591Ser)
c.5274A>C (p.Arg1758Ser)
c.1598A>C
c.1785A>C (p.Arg595Ser)
c.*4994A>C (n.*4994A>C)
c.141A>C (p.Arg47Ser)
c.684A>C (p.Arg228Ser)
c.-98-6928A>C (n.-98-6928A>C)
n.5347A>C
n.5388A>C
 ClinVar dbSNP
17g.43057118T=CA2260766455BRCA1c.5208A= (p.Arg1736=)
c.5211A= (p.Arg1737=)
c.5085A= (p.Arg1695=)
c.5205A= (p.Arg1735=)
c.5133A= (p.Arg1711=)
c.1899A= (p.Arg633=)
c.1761A= (p.Arg587=)
c.4323A= (p.Arg1441=)
c.5088A= (p.Arg1696=)
c.5277A= (p.Arg1759=)
c.5070A= (p.Arg1690=)
c.1773A= (p.Arg591=)
c.5274A= (p.Arg1758=)
c.1598A=
c.1785A= (p.Arg595=)
c.*4994A= (n.*4994A=)
c.141A= (p.Arg47=)
c.684A= (p.Arg228=)
c.-98-6928A= (n.-98-6928A=)
n.5347A=
n.5388A=
17g.43057118_43057119insGCA658824715BRCA1c.5207_5208insC (p.Arg1736SerfsTer?)
c.5210_5211insC (p.Arg1737SerfsTer?)
c.5084_5085insC (p.Arg1695SerfsTer?)
c.5204_5205insC (p.Arg1735SerfsTer?)
c.5132_5133insC (p.Arg1711SerfsTer?)
c.1898_1899insC (p.Arg633SerfsTer?)
c.1760_1761insC (p.Arg587SerfsTer?)
c.4322_4323insC (p.Arg1441SerfsTer?)
c.5087_5088insC (p.Arg1696SerfsTer?)
c.5276_5277insC (p.Arg1759SerfsTer?)
c.5069_5070insC (p.Arg1690SerfsTer?)
c.1772_1773insC (p.Arg591SerfsTer?)
c.5273_5274insC (p.Arg1758SerfsTer?)
c.1597_1598insC
c.1784_1785insC (p.Arg595SerfsTer?)
c.*4993_*4994insC (n.*4993_*4994insC)
c.140_141insC (p.Arg47SerfsTer?)
c.683_684insC (p.Arg228SerfsTer?)
c.-98-6929_-98-6928insC (n.-98-6929_-98-6928insC)
n.5346_5347insC
n.5387_5388insC
 ClinVar dbSNP
17g.43057119C>ACA10591117BRCA1c.5207G>T (p.Arg1736Ile)
c.5210G>T (p.Arg1737Ile)
c.5084G>T (p.Arg1695Ile)
c.5204G>T (p.Arg1735Ile)
c.5132G>T (p.Arg1711Ile)
c.1898G>T (p.Arg633Ile)
c.1760G>T (p.Arg587Ile)
c.4322G>T (p.Arg1441Ile)
c.5087G>T (p.Arg1696Ile)
c.5276G>T (p.Arg1759Ile)
c.5069G>T (p.Arg1690Ile)
c.1772G>T (p.Arg591Ile)
c.5273G>T (p.Arg1758Ile)
c.1597G>T
c.1784G>T (p.Arg595Ile)
c.*4993G>T (n.*4993G>T)
c.140G>T (p.Arg47Ile)
c.683G>T (p.Arg228Ile)
c.-98-6929G>T (n.-98-6929G>T)
n.5346G>T
n.5387G>T
 ClinVar dbSNP
17g.43057119C=CA2260766456BRCA1c.5207G= (p.Arg1736=)
c.5210G= (p.Arg1737=)
c.5084G= (p.Arg1695=)
c.5204G= (p.Arg1735=)
c.5132G= (p.Arg1711=)
c.1898G= (p.Arg633=)
c.1760G= (p.Arg587=)
c.4322G= (p.Arg1441=)
c.5087G= (p.Arg1696=)
c.5276G= (p.Arg1759=)
c.5069G= (p.Arg1690=)
c.1772G= (p.Arg591=)
c.5273G= (p.Arg1758=)
c.1597G=
c.1784G= (p.Arg595=)
c.*4993G= (n.*4993G=)
c.140G= (p.Arg47=)
c.683G= (p.Arg228=)
c.-98-6929G= (n.-98-6929G=)
n.5346G=
n.5387G=
17g.43057119C>GCA10591118BRCA1c.5207G>C (p.Arg1736Thr)
c.5210G>C (p.Arg1737Thr)
c.5084G>C (p.Arg1695Thr)
c.5204G>C (p.Arg1735Thr)
c.5132G>C (p.Arg1711Thr)
c.1898G>C (p.Arg633Thr)
c.1760G>C (p.Arg587Thr)
c.4322G>C (p.Arg1441Thr)
c.5087G>C (p.Arg1696Thr)
c.5276G>C (p.Arg1759Thr)
c.5069G>C (p.Arg1690Thr)
c.1772G>C (p.Arg591Thr)
c.5273G>C (p.Arg1758Thr)
c.1597G>C
c.1784G>C (p.Arg595Thr)
c.*4993G>C (n.*4993G>C)
c.140G>C (p.Arg47Thr)
c.683G>C (p.Arg228Thr)
c.-98-6929G>C (n.-98-6929G>C)
n.5346G>C
n.5387G>C
 ClinVar dbSNP
17g.43057119C>TCA10591119BRCA1c.5207G>A (p.Arg1736Lys)
c.5210G>A (p.Arg1737Lys)
c.5084G>A (p.Arg1695Lys)
c.5204G>A (p.Arg1735Lys)
c.5132G>A (p.Arg1711Lys)
c.1898G>A (p.Arg633Lys)
c.1760G>A (p.Arg587Lys)
c.4322G>A (p.Arg1441Lys)
c.5087G>A (p.Arg1696Lys)
c.5276G>A (p.Arg1759Lys)
c.5069G>A (p.Arg1690Lys)
c.1772G>A (p.Arg591Lys)
c.5273G>A (p.Arg1758Lys)
c.1597G>A
c.1784G>A (p.Arg595Lys)
c.*4993G>A (n.*4993G>A)
c.140G>A (p.Arg47Lys)
c.683G>A (p.Arg228Lys)
c.-98-6929G>A (n.-98-6929G>A)
n.5346G>A
n.5387G>A
 ClinVar dbSNP
17g.43057119_43057120insGCA645373153BRCA1c.5206_5207insC (p.Arg1736ThrfsTer?)
c.5209_5210insC (p.Arg1737ThrfsTer?)
c.5083_5084insC (p.Arg1695ThrfsTer?)
c.5203_5204insC (p.Arg1735ThrfsTer?)
c.5131_5132insC (p.Arg1711ThrfsTer?)
c.1897_1898insC (p.Arg633ThrfsTer?)
c.1759_1760insC (p.Arg587ThrfsTer?)
c.4321_4322insC (p.Arg1441ThrfsTer?)
c.5086_5087insC (p.Arg1696ThrfsTer?)
c.5275_5276insC (p.Arg1759ThrfsTer?)
c.5068_5069insC (p.Arg1690ThrfsTer?)
c.1771_1772insC (p.Arg591ThrfsTer?)
c.5272_5273insC (p.Arg1758ThrfsTer?)
c.1596_1597insC
c.1783_1784insC (p.Arg595ThrfsTer?)
c.*4992_*4993insC (n.*4992_*4993insC)
c.139_140insC (p.Arg47ThrfsTer?)
c.682_683insC (p.Arg228ThrfsTer?)
c.-98-6930_-98-6929insC (n.-98-6930_-98-6929insC)
n.5345_5346insC
n.5386_5387insC
 ClinVar dbSNP
17g.43057120T>ACA003361BRCA1c.5206A>T (p.Arg1736Ter)
c.5209A>T (p.Arg1737Ter)
c.5083A>T (p.Arg1695Ter)
c.5203A>T (p.Arg1735Ter)
c.5131A>T (p.Arg1711Ter)
c.1897A>T (p.Arg633Ter)
c.1759A>T (p.Arg587Ter)
c.4321A>T (p.Arg1441Ter)
c.5086A>T (p.Arg1696Ter)
c.5275A>T (p.Arg1759Ter)
c.5068A>T (p.Arg1690Ter)
c.1771A>T (p.Arg591Ter)
c.5272A>T (p.Arg1758Ter)
c.1596A>T
c.1783A>T (p.Arg595Ter)
c.*4992A>T (n.*4992A>T)
c.139A>T (p.Arg47Ter)
c.682A>T (p.Arg228Ter)
c.-98-6930A>T (n.-98-6930A>T)
n.5345A>T
n.5386A>T
 ClinVar dbSNP
17g.43057120T>CCA10591120BRCA1c.5206A>G (p.Arg1736Gly)
c.5209A>G (p.Arg1737Gly)
c.5083A>G (p.Arg1695Gly)
c.5203A>G (p.Arg1735Gly)
c.5131A>G (p.Arg1711Gly)
c.1897A>G (p.Arg633Gly)
c.1759A>G (p.Arg587Gly)
c.4321A>G (p.Arg1441Gly)
c.5086A>G (p.Arg1696Gly)
c.5275A>G (p.Arg1759Gly)
c.5068A>G (p.Arg1690Gly)
c.1771A>G (p.Arg591Gly)
c.5272A>G (p.Arg1758Gly)
c.1596A>G
c.1783A>G (p.Arg595Gly)
c.*4992A>G (n.*4992A>G)
c.139A>G (p.Arg47Gly)
c.682A>G (p.Arg228Gly)
c.-98-6930A>G (n.-98-6930A>G)
n.5345A>G
n.5386A>G
 ClinVar dbSNP
17g.43057120T>GCA500144837BRCA1c.5206A>C (p.Arg1736=)
c.5209A>C (p.Arg1737=)
c.5083A>C (p.Arg1695=)
c.5203A>C (p.Arg1735=)
c.5131A>C (p.Arg1711=)
c.1897A>C (p.Arg633=)
c.1759A>C (p.Arg587=)
c.4321A>C (p.Arg1441=)
c.5086A>C (p.Arg1696=)
c.5275A>C (p.Arg1759=)
c.5068A>C (p.Arg1690=)
c.1771A>C (p.Arg591=)
c.5272A>C (p.Arg1758=)
c.1596A>C
c.1783A>C (p.Arg595=)
c.*4992A>C (n.*4992A>C)
c.139A>C (p.Arg47=)
c.682A>C (p.Arg228=)
c.-98-6930A>C (n.-98-6930A>C)
n.5345A>C
n.5386A>C
 ClinVar dbSNP
17g.43057120T=CA2260766457BRCA1c.5206A= (p.Arg1736=)
c.5209A= (p.Arg1737=)
c.5083A= (p.Arg1695=)
c.5203A= (p.Arg1735=)
c.5131A= (p.Arg1711=)
c.1897A= (p.Arg633=)
c.1759A= (p.Arg587=)
c.4321A= (p.Arg1441=)
c.5086A= (p.Arg1696=)
c.5275A= (p.Arg1759=)
c.5068A= (p.Arg1690=)
c.1771A= (p.Arg591=)
c.5272A= (p.Arg1758=)
c.1596A=
c.1783A= (p.Arg595=)
c.*4992A= (n.*4992A=)
c.139A= (p.Arg47=)
c.682A= (p.Arg228=)
c.-98-6930A= (n.-98-6930A=)
n.5345A=
n.5386A=
17g.43057120dupCA10589611BRCA1c.5206dup (p.Arg1736LysfsTer?)
c.5209dup (p.Arg1737LysfsTer?)
c.5083dup (p.Arg1695LysfsTer?)
c.5203dup (p.Arg1735LysfsTer?)
c.5131dup (p.Arg1711LysfsTer?)
c.1897dup (p.Arg633LysfsTer?)
c.1759dup (p.Arg587LysfsTer?)
c.4321dup (p.Arg1441LysfsTer?)
c.5086dup (p.Arg1696LysfsTer?)
c.5275dup (p.Arg1759LysfsTer?)
c.5068dup (p.Arg1690LysfsTer?)
c.1771dup (p.Arg591LysfsTer?)
c.5272dup (p.Arg1758LysfsTer?)
c.1596dup
c.1783dup (p.Arg595LysfsTer?)
c.*4992dup (n.*4992dup)
c.139dup (p.Arg47LysfsTer?)
c.682dup (p.Arg228LysfsTer?)
c.-98-6930dup (n.-98-6930dup)
n.5345dup
n.5386dup
 ClinVar dbSNP
17g.43057121G>ACA500144845BRCA1c.5205C>T (p.Val1735=)
c.5208C>T (p.Val1736=)
c.5082C>T (p.Val1694=)
c.5202C>T (p.Val1734=)
c.5130C>T (p.Val1710=)
c.1896C>T (p.Val632=)
c.1758C>T (p.Val586=)
c.4320C>T (p.Val1440=)
c.5085C>T (p.Val1695=)
c.5274C>T (p.Val1758=)
c.5067C>T (p.Val1689=)
c.1770C>T (p.Val590=)
c.5271C>T (p.Val1757=)
c.1595C>T
c.1782C>T (p.Val594=)
c.*4991C>T (n.*4991C>T)
c.138C>T (p.Val46=)
c.681C>T (p.Val227=)
c.-98-6931C>T (n.-98-6931C>T)
n.5344C>T
n.5385C>T
 ClinVar dbSNP
17g.43057121G>CCA500144840BRCA1c.5205C>G (p.Val1735=)
c.5208C>G (p.Val1736=)
c.5082C>G (p.Val1694=)
c.5202C>G (p.Val1734=)
c.5130C>G (p.Val1710=)
c.1896C>G (p.Val632=)
c.1758C>G (p.Val586=)
c.4320C>G (p.Val1440=)
c.5085C>G (p.Val1695=)
c.5274C>G (p.Val1758=)
c.5067C>G (p.Val1689=)
c.1770C>G (p.Val590=)
c.5271C>G (p.Val1757=)
c.1595C>G
c.1782C>G (p.Val594=)
c.*4991C>G (n.*4991C>G)
c.138C>G (p.Val46=)
c.681C>G (p.Val227=)
c.-98-6931C>G (n.-98-6931C>G)
n.5344C>G
n.5385C>G
 ClinVar dbSNP
17g.43057121G=CA2260766459BRCA1c.5205C= (p.Val1735=)
c.5208C= (p.Val1736=)
c.5082C= (p.Val1694=)
c.5202C= (p.Val1734=)
c.5130C= (p.Val1710=)
c.1896C= (p.Val632=)
c.1758C= (p.Val586=)
c.4320C= (p.Val1440=)
c.5085C= (p.Val1695=)
c.5274C= (p.Val1758=)
c.5067C= (p.Val1689=)
c.1770C= (p.Val590=)
c.5271C= (p.Val1757=)
c.1595C=
c.1782C= (p.Val594=)
c.*4991C= (n.*4991C=)
c.138C= (p.Val46=)
c.681C= (p.Val227=)
c.-98-6931C= (n.-98-6931C=)
n.5344C=
n.5385C=
17g.43057121G>TCA500144843BRCA1c.5205C>A (p.Val1735=)
c.5208C>A (p.Val1736=)
c.5082C>A (p.Val1694=)
c.5202C>A (p.Val1734=)
c.5130C>A (p.Val1710=)
c.1896C>A (p.Val632=)
c.1758C>A (p.Val586=)
c.4320C>A (p.Val1440=)
c.5085C>A (p.Val1695=)
c.5274C>A (p.Val1758=)
c.5067C>A (p.Val1689=)
c.1770C>A (p.Val590=)
c.5271C>A (p.Val1757=)
c.1595C>A
c.1782C>A (p.Val594=)
c.*4991C>A (n.*4991C>A)
c.138C>A (p.Val46=)
c.681C>A (p.Val227=)
c.-98-6931C>A (n.-98-6931C>A)
n.5344C>A
n.5385C>A
 ClinVar dbSNP
17g.43057121_43057122delinsGACA2260766458BRCA1c.5204_5205delinsTC (p.Val1735=)
c.5207_5208delinsTC (p.Val1736=)
c.5081_5082delinsTC (p.Val1694=)
c.5201_5202delinsTC (p.Val1734=)
c.5129_5130delinsTC (p.Val1710=)
c.1895_1896delinsTC (p.Val632=)
c.1757_1758delinsTC (p.Val586=)
c.4319_4320delinsTC (p.Val1440=)
c.5084_5085delinsTC (p.Val1695=)
c.5273_5274delinsTC (p.Val1758=)
c.5066_5067delinsTC (p.Val1689=)
c.1769_1770delinsTC (p.Val590=)
c.5270_5271delinsTC (p.Val1757=)
c.1594_1595delinsTC
c.1781_1782delinsTC (p.Val594=)
c.*4990_*4991delinsTC (n.*4990_*4991delinsTC)
c.137_138delinsTC (p.Val46=)
c.680_681delinsTC (p.Val227=)
c.-98-6932_-98-6931delinsTC (n.-98-6932_-98-6931delinsTC)
n.5343_5344delinsTC
n.5384_5385delinsTC
17g.43057122delCA003356BRCA1c.5204del (p.Val1735AlafsTer29)
c.5207del (p.Val1736AlafsTer29)
c.5081del (p.Val1694AlafsTer29)
c.5201del (p.Val1734AlafsTer29)
c.5129del (p.Val1710AlafsTer29)
c.1895del (p.Val632AlafsTer29)
c.1757del (p.Val586AlafsTer29)
c.4319del (p.Val1440AlafsTer29)
c.5084del (p.Val1695AlafsTer29)
c.5273del (p.Val1758AlafsTer29)
c.5066del (p.Val1689AlafsTer29)
c.1769del (p.Val590AlafsTer29)
c.5270del (p.Val1757AlafsTer29)
c.1594del
c.1781del (p.Val594AlafsTer29)
c.*4990del (n.*4990del)
c.137del (p.Val46AlafsTer29)
c.680del (p.Val227AlafsTer29)
c.-98-6932del (n.-98-6932del)
n.5343del
n.5384del
 ClinVar dbSNP
17g.43057122A=CA2260766460BRCA1c.5204T= (p.Val1735=)
c.5207T= (p.Val1736=)
c.5081T= (p.Val1694=)
c.5201T= (p.Val1734=)
c.5129T= (p.Val1710=)
c.1895T= (p.Val632=)
c.1757T= (p.Val586=)
c.4319T= (p.Val1440=)
c.5084T= (p.Val1695=)
c.5273T= (p.Val1758=)
c.5066T= (p.Val1689=)
c.1769T= (p.Val590=)
c.5270T= (p.Val1757=)
c.1594T=
c.1781T= (p.Val594=)
c.*4990T= (n.*4990T=)
c.137T= (p.Val46=)
c.680T= (p.Val227=)
c.-98-6932T= (n.-98-6932T=)
n.5343T=
n.5384T=
17g.43057122A>CCA003358BRCA1c.5204T>G (p.Val1735Gly)
c.5207T>G (p.Val1736Gly)
c.5081T>G (p.Val1694Gly)
c.5201T>G (p.Val1734Gly)
c.5129T>G (p.Val1710Gly)
c.1895T>G (p.Val632Gly)
c.1757T>G (p.Val586Gly)
c.4319T>G (p.Val1440Gly)
c.5084T>G (p.Val1695Gly)
c.5273T>G (p.Val1758Gly)
c.5066T>G (p.Val1689Gly)
c.1769T>G (p.Val590Gly)
c.5270T>G (p.Val1757Gly)
c.1594T>G
c.1781T>G (p.Val594Gly)
c.*4990T>G (n.*4990T>G)
c.137T>G (p.Val46Gly)
c.680T>G (p.Val227Gly)
c.-98-6932T>G (n.-98-6932T>G)
n.5343T>G
n.5384T>G
 ClinVar dbSNP
17g.43057122A>GCA003357BRCA1c.5204T>C (p.Val1735Ala)
c.5207T>C (p.Val1736Ala)
c.5081T>C (p.Val1694Ala)
c.5201T>C (p.Val1734Ala)
c.5129T>C (p.Val1710Ala)
c.1895T>C (p.Val632Ala)
c.1757T>C (p.Val586Ala)
c.4319T>C (p.Val1440Ala)
c.5084T>C (p.Val1695Ala)
c.5273T>C (p.Val1758Ala)
c.5066T>C (p.Val1689Ala)
c.1769T>C (p.Val590Ala)
c.5270T>C (p.Val1757Ala)
c.1594T>C
c.1781T>C (p.Val594Ala)
c.*4990T>C (n.*4990T>C)
c.137T>C (p.Val46Ala)
c.680T>C (p.Val227Ala)
c.-98-6932T>C (n.-98-6932T>C)
n.5343T>C
n.5384T>C
 ClinVar dbSNP gnomAD v4
17g.43057122A>TCA10591121BRCA1c.5204T>A (p.Val1735Asp)
c.5207T>A (p.Val1736Asp)
c.5081T>A (p.Val1694Asp)
c.5201T>A (p.Val1734Asp)
c.5129T>A (p.Val1710Asp)
c.1895T>A (p.Val632Asp)
c.1757T>A (p.Val586Asp)
c.4319T>A (p.Val1440Asp)
c.5084T>A (p.Val1695Asp)
c.5273T>A (p.Val1758Asp)
c.5066T>A (p.Val1689Asp)
c.1769T>A (p.Val590Asp)
c.5270T>A (p.Val1757Asp)
c.1594T>A
c.1781T>A (p.Val594Asp)
c.*4990T>A (n.*4990T>A)
c.137T>A (p.Val46Asp)
c.680T>A (p.Val227Asp)
c.-98-6932T>A (n.-98-6932T>A)
n.5343T>A
n.5384T>A
 ClinVar dbSNP
17g.43057123C>ACA10591122BRCA1c.5203G>T (p.Val1735Phe)
c.5206G>T (p.Val1736Phe)
c.5080G>T (p.Val1694Phe)
c.5200G>T (p.Val1734Phe)
c.5128G>T (p.Val1710Phe)
c.1894G>T (p.Val632Phe)
c.1756G>T (p.Val586Phe)
c.4318G>T (p.Val1440Phe)
c.5083G>T (p.Val1695Phe)
c.5272G>T (p.Val1758Phe)
c.5065G>T (p.Val1689Phe)
c.1768G>T (p.Val590Phe)
c.5269G>T (p.Val1757Phe)
c.1593G>T
c.1780G>T (p.Val594Phe)
c.*4989G>T (n.*4989G>T)
c.136G>T (p.Val46Phe)
c.679G>T (p.Val227Phe)
c.-98-6933G>T (n.-98-6933G>T)
n.5342G>T
n.5383G>T
 ClinVar dbSNP gnomAD v4
17g.43057123C=CA2260766461BRCA1c.5203G= (p.Val1735=)
c.5206G= (p.Val1736=)
c.5080G= (p.Val1694=)
c.5200G= (p.Val1734=)
c.5128G= (p.Val1710=)
c.1894G= (p.Val632=)
c.1756G= (p.Val586=)
c.4318G= (p.Val1440=)
c.5083G= (p.Val1695=)
c.5272G= (p.Val1758=)
c.5065G= (p.Val1689=)
c.1768G= (p.Val590=)
c.5269G= (p.Val1757=)
c.1593G=
c.1780G= (p.Val594=)
c.*4989G= (n.*4989G=)
c.136G= (p.Val46=)
c.679G= (p.Val227=)
c.-98-6933G= (n.-98-6933G=)
n.5342G=
n.5383G=
17g.43057123C>GCA10591123BRCA1c.5203G>C (p.Val1735Leu)
c.5206G>C (p.Val1736Leu)
c.5080G>C (p.Val1694Leu)
c.5200G>C (p.Val1734Leu)
c.5128G>C (p.Val1710Leu)
c.1894G>C (p.Val632Leu)
c.1756G>C (p.Val586Leu)
c.4318G>C (p.Val1440Leu)
c.5083G>C (p.Val1695Leu)
c.5272G>C (p.Val1758Leu)
c.5065G>C (p.Val1689Leu)
c.1768G>C (p.Val590Leu)
c.5269G>C (p.Val1757Leu)
c.1593G>C
c.1780G>C (p.Val594Leu)
c.*4989G>C (n.*4989G>C)
c.136G>C (p.Val46Leu)
c.679G>C (p.Val227Leu)
c.-98-6933G>C (n.-98-6933G>C)
n.5342G>C
n.5383G>C
 ClinVar dbSNP
17g.43057123C>TCA10591124BRCA1c.5203G>A (p.Val1735Ile)
c.5206G>A (p.Val1736Ile)
c.5080G>A (p.Val1694Ile)
c.5200G>A (p.Val1734Ile)
c.5128G>A (p.Val1710Ile)
c.1894G>A (p.Val632Ile)
c.1756G>A (p.Val586Ile)
c.4318G>A (p.Val1440Ile)
c.5083G>A (p.Val1695Ile)
c.5272G>A (p.Val1758Ile)
c.5065G>A (p.Val1689Ile)
c.1768G>A (p.Val590Ile)
c.5269G>A (p.Val1757Ile)
c.1593G>A
c.1780G>A (p.Val594Ile)
c.*4989G>A (n.*4989G>A)
c.136G>A (p.Val46Ile)
c.679G>A (p.Val227Ile)
c.-98-6933G>A (n.-98-6933G>A)
n.5342G>A
n.5383G>A
 ClinVar dbSNP
17g.43057123_43057124delinsCTCA2260766462BRCA1c.5202_5203delinsAG (p.Glu1734=)
c.5205_5206delinsAG (p.Glu1735=)
c.5079_5080delinsAG (p.Glu1693=)
c.5199_5200delinsAG (p.Glu1733=)
c.5127_5128delinsAG (p.Glu1709=)
c.1893_1894delinsAG (p.Glu631=)
c.1755_1756delinsAG (p.Glu585=)
c.4317_4318delinsAG (p.Glu1439=)
c.5082_5083delinsAG (p.Glu1694=)
c.5271_5272delinsAG (p.Glu1757=)
c.5064_5065delinsAG (p.Glu1688=)
c.1767_1768delinsAG (p.Glu589=)
c.5268_5269delinsAG (p.Glu1756=)
c.1592_1593delinsAG
c.1779_1780delinsAG (p.Glu593=)
c.*4988_*4989delinsAG (n.*4988_*4989delinsAG)
c.135_136delinsAG (p.Glu45=)
c.678_679delinsAG (p.Glu226=)
c.-98-6934_-98-6933delinsAG (n.-98-6934_-98-6933delinsAG)
n.5341_5342delinsAG
n.5382_5383delinsAG
17g.43057124T>ACA003354BRCA1c.5202A>T (p.Glu1734Asp)
c.5205A>T (p.Glu1735Asp)
c.5079A>T (p.Glu1693Asp)
c.5199A>T (p.Glu1733Asp)
c.5127A>T (p.Glu1709Asp)
c.1893A>T (p.Glu631Asp)
c.1755A>T (p.Glu585Asp)
c.4317A>T (p.Glu1439Asp)
c.5082A>T (p.Glu1694Asp)
c.5271A>T (p.Glu1757Asp)
c.5064A>T (p.Glu1688Asp)
c.1767A>T (p.Glu589Asp)
c.5268A>T (p.Glu1756Asp)
c.1592A>T
c.1779A>T (p.Glu593Asp)
c.*4988A>T (n.*4988A>T)
c.135A>T (p.Glu45Asp)
c.678A>T (p.Glu226Asp)
c.-98-6934A>T (n.-98-6934A>T)
n.5341A>T
n.5382A>T
 ClinVar dbSNP
17g.43057124T>CCA500144860BRCA1c.5202A>G (p.Glu1734=)
c.5205A>G (p.Glu1735=)
c.5079A>G (p.Glu1693=)
c.5199A>G (p.Glu1733=)
c.5127A>G (p.Glu1709=)
c.1893A>G (p.Glu631=)
c.1755A>G (p.Glu585=)
c.4317A>G (p.Glu1439=)
c.5082A>G (p.Glu1694=)
c.5271A>G (p.Glu1757=)
c.5064A>G (p.Glu1688=)
c.1767A>G (p.Glu589=)
c.5268A>G (p.Glu1756=)
c.1592A>G
c.1779A>G (p.Glu593=)
c.*4988A>G (n.*4988A>G)
c.135A>G (p.Glu45=)
c.678A>G (p.Glu226=)
c.-98-6934A>G (n.-98-6934A>G)
n.5341A>G
n.5382A>G
 ClinVar dbSNP
17g.43057124T>GCA10591125BRCA1c.5202A>C (p.Glu1734Asp)
c.5205A>C (p.Glu1735Asp)
c.5079A>C (p.Glu1693Asp)
c.5199A>C (p.Glu1733Asp)
c.5127A>C (p.Glu1709Asp)
c.1893A>C (p.Glu631Asp)
c.1755A>C (p.Glu585Asp)
c.4317A>C (p.Glu1439Asp)
c.5082A>C (p.Glu1694Asp)
c.5271A>C (p.Glu1757Asp)
c.5064A>C (p.Glu1688Asp)
c.1767A>C (p.Glu589Asp)
c.5268A>C (p.Glu1756Asp)
c.1592A>C
c.1779A>C (p.Glu593Asp)
c.*4988A>C (n.*4988A>C)
c.135A>C (p.Glu45Asp)
c.678A>C (p.Glu226Asp)
c.-98-6934A>C (n.-98-6934A>C)
n.5341A>C
n.5382A>C
 ClinVar dbSNP
17g.43057124T=CA2260766463BRCA1c.5202A= (p.Glu1734=)
c.5205A= (p.Glu1735=)
c.5079A= (p.Glu1693=)
c.5199A= (p.Glu1733=)
c.5127A= (p.Glu1709=)
c.1893A= (p.Glu631=)
c.1755A= (p.Glu585=)
c.4317A= (p.Glu1439=)
c.5082A= (p.Glu1694=)
c.5271A= (p.Glu1757=)
c.5064A= (p.Glu1688=)
c.1767A= (p.Glu589=)
c.5268A= (p.Glu1756=)
c.1592A=
c.1779A= (p.Glu593=)
c.*4988A= (n.*4988A=)
c.135A= (p.Glu45=)
c.678A= (p.Glu226=)
c.-98-6934A= (n.-98-6934A=)
n.5341A=
n.5382A=
17g.43057125delCA003355BRCA1c.5202del (p.Val1735SerfsTer29)
c.5205del (p.Val1736SerfsTer29)
c.5079del (p.Val1694SerfsTer29)
c.5199del (p.Val1734SerfsTer29)
c.5127del (p.Val1710SerfsTer29)
c.1893del (p.Val632SerfsTer29)
c.1755del (p.Val586SerfsTer29)
c.4317del (p.Val1440SerfsTer29)
c.5082del (p.Val1695SerfsTer29)
c.5271del (p.Val1758SerfsTer29)
c.5064del (p.Val1689SerfsTer29)
c.1767del (p.Val590SerfsTer29)
c.5268del (p.Val1757SerfsTer29)
c.1592del
c.1779del (p.Val594SerfsTer29)
c.*4988del (n.*4988del)
c.135del (p.Val46SerfsTer29)
c.678del (p.Val227SerfsTer29)
c.-98-6934del (n.-98-6934del)
n.5341del
n.5382del
 ClinVar dbSNP
17g.43057125T>ACA10591126BRCA1c.5201A>T (p.Glu1734Val)
c.5204A>T (p.Glu1735Val)
c.5078A>T (p.Glu1693Val)
c.5198A>T (p.Glu1733Val)
c.5126A>T (p.Glu1709Val)
c.1892A>T (p.Glu631Val)
c.1754A>T (p.Glu585Val)
c.4316A>T (p.Glu1439Val)
c.5081A>T (p.Glu1694Val)
c.5270A>T (p.Glu1757Val)
c.5063A>T (p.Glu1688Val)
c.1766A>T (p.Glu589Val)
c.5267A>T (p.Glu1756Val)
c.1591A>T
c.1778A>T (p.Glu593Val)
c.*4987A>T (n.*4987A>T)
c.134A>T (p.Glu45Val)
c.677A>T (p.Glu226Val)
c.-98-6935A>T (n.-98-6935A>T)
n.5340A>T
n.5381A>T
 ClinVar dbSNP gnomAD v4
17g.43057125T>CCA10591127BRCA1c.5201A>G (p.Glu1734Gly)
c.5204A>G (p.Glu1735Gly)
c.5078A>G (p.Glu1693Gly)
c.5198A>G (p.Glu1733Gly)
c.5126A>G (p.Glu1709Gly)
c.1892A>G (p.Glu631Gly)
c.1754A>G (p.Glu585Gly)
c.4316A>G (p.Glu1439Gly)
c.5081A>G (p.Glu1694Gly)
c.5270A>G (p.Glu1757Gly)
c.5063A>G (p.Glu1688Gly)
c.1766A>G (p.Glu589Gly)
c.5267A>G (p.Glu1756Gly)
c.1591A>G
c.1778A>G (p.Glu593Gly)
c.*4987A>G (n.*4987A>G)
c.134A>G (p.Glu45Gly)
c.677A>G (p.Glu226Gly)
c.-98-6935A>G (n.-98-6935A>G)
n.5340A>G
n.5381A>G
 ClinVar dbSNP
17g.43057125T>GCA10591128BRCA1c.5201A>C (p.Glu1734Ala)
c.5204A>C (p.Glu1735Ala)
c.5078A>C (p.Glu1693Ala)
c.5198A>C (p.Glu1733Ala)
c.5126A>C (p.Glu1709Ala)
c.1892A>C (p.Glu631Ala)
c.1754A>C (p.Glu585Ala)
c.4316A>C (p.Glu1439Ala)
c.5081A>C (p.Glu1694Ala)
c.5270A>C (p.Glu1757Ala)
c.5063A>C (p.Glu1688Ala)
c.1766A>C (p.Glu589Ala)
c.5267A>C (p.Glu1756Ala)
c.1591A>C
c.1778A>C (p.Glu593Ala)
c.*4987A>C (n.*4987A>C)
c.134A>C (p.Glu45Ala)
c.677A>C (p.Glu226Ala)
c.-98-6935A>C (n.-98-6935A>C)
n.5340A>C
n.5381A>C
 ClinVar dbSNP
17g.43057125T=CA2260766464BRCA1c.5201A= (p.Glu1734=)
c.5204A= (p.Glu1735=)
c.5078A= (p.Glu1693=)
c.5198A= (p.Glu1733=)
c.5126A= (p.Glu1709=)
c.1892A= (p.Glu631=)
c.1754A= (p.Glu585=)
c.4316A= (p.Glu1439=)
c.5081A= (p.Glu1694=)
c.5270A= (p.Glu1757=)
c.5063A= (p.Glu1688=)
c.1766A= (p.Glu589=)
c.5267A= (p.Glu1756=)
c.1591A=
c.1778A= (p.Glu593=)
c.*4987A= (n.*4987A=)
c.134A= (p.Glu45=)
c.677A= (p.Glu226=)
c.-98-6935A= (n.-98-6935A=)
n.5340A=
n.5381A=
17g.43057126delCA2697559967BRCA1c.5200del (p.Glu1734LysfsTer30)
c.5203del (p.Glu1735LysfsTer30)
c.5077del (p.Glu1693LysfsTer30)
c.5197del (p.Glu1733LysfsTer30)
c.5125del (p.Glu1709LysfsTer30)
c.1891del (p.Glu631LysfsTer30)
c.1753del (p.Glu585LysfsTer30)
c.4315del (p.Glu1439LysfsTer30)
c.5080del (p.Glu1694LysfsTer30)
c.5269del (p.Glu1757LysfsTer30)
c.5062del (p.Glu1688LysfsTer30)
c.1765del (p.Glu589LysfsTer30)
c.5266del (p.Glu1756LysfsTer30)
c.1590del
c.1777del (p.Glu593LysfsTer30)
c.*4986del (n.*4986del)
c.133del (p.Glu45LysfsTer30)
c.676del (p.Glu226LysfsTer30)
c.-98-6936del (n.-98-6936del)
n.5339del
n.5380del
 ClinVar
17g.43057126C>ACA10591129BRCA1c.5200G>T (p.Glu1734Ter)
c.5203G>T (p.Glu1735Ter)
c.5077G>T (p.Glu1693Ter)
c.5197G>T (p.Glu1733Ter)
c.5125G>T (p.Glu1709Ter)
c.1891G>T (p.Glu631Ter)
c.1753G>T (p.Glu585Ter)
c.4315G>T (p.Glu1439Ter)
c.5080G>T (p.Glu1694Ter)
c.5269G>T (p.Glu1757Ter)
c.5062G>T (p.Glu1688Ter)
c.1765G>T (p.Glu589Ter)
c.5266G>T (p.Glu1756Ter)
c.1590G>T
c.1777G>T (p.Glu593Ter)
c.*4986G>T (n.*4986G>T)
c.133G>T (p.Glu45Ter)
c.676G>T (p.Glu226Ter)
c.-98-6936G>T (n.-98-6936G>T)
n.5339G>T
n.5380G>T
 ClinVar dbSNP
17g.43057126C=CA2260766465BRCA1c.5200G= (p.Glu1734=)
c.5203G= (p.Glu1735=)
c.5077G= (p.Glu1693=)
c.5197G= (p.Glu1733=)
c.5125G= (p.Glu1709=)
c.1891G= (p.Glu631=)
c.1753G= (p.Glu585=)
c.4315G= (p.Glu1439=)
c.5080G= (p.Glu1694=)
c.5269G= (p.Glu1757=)
c.5062G= (p.Glu1688=)
c.1765G= (p.Glu589=)
c.5266G= (p.Glu1756=)
c.1590G=
c.1777G= (p.Glu593=)
c.*4986G= (n.*4986G=)
c.133G= (p.Glu45=)
c.676G= (p.Glu226=)
c.-98-6936G= (n.-98-6936G=)
n.5339G=
n.5380G=
17g.43057126C>GCA10591130BRCA1c.5200G>C (p.Glu1734Gln)
c.5203G>C (p.Glu1735Gln)
c.5077G>C (p.Glu1693Gln)
c.5197G>C (p.Glu1733Gln)
c.5125G>C (p.Glu1709Gln)
c.1891G>C (p.Glu631Gln)
c.1753G>C (p.Glu585Gln)
c.4315G>C (p.Glu1439Gln)
c.5080G>C (p.Glu1694Gln)
c.5269G>C (p.Glu1757Gln)
c.5062G>C (p.Glu1688Gln)
c.1765G>C (p.Glu589Gln)
c.5266G>C (p.Glu1756Gln)
c.1590G>C
c.1777G>C (p.Glu593Gln)
c.*4986G>C (n.*4986G>C)
c.133G>C (p.Glu45Gln)
c.676G>C (p.Glu226Gln)
c.-98-6936G>C (n.-98-6936G>C)
n.5339G>C
n.5380G>C
 ClinVar dbSNP
17g.43057126C>TCA003353BRCA1c.5200G>A (p.Glu1734Lys)
c.5203G>A (p.Glu1735Lys)
c.5077G>A (p.Glu1693Lys)
c.5197G>A (p.Glu1733Lys)
c.5125G>A (p.Glu1709Lys)
c.1891G>A (p.Glu631Lys)
c.1753G>A (p.Glu585Lys)
c.4315G>A (p.Glu1439Lys)
c.5080G>A (p.Glu1694Lys)
c.5269G>A (p.Glu1757Lys)
c.5062G>A (p.Glu1688Lys)
c.1765G>A (p.Glu589Lys)
c.5266G>A (p.Glu1756Lys)
c.1590G>A
c.1777G>A (p.Glu593Lys)
c.*4986G>A (n.*4986G>A)
c.133G>A (p.Glu45Lys)
c.676G>A (p.Glu226Lys)
c.-98-6936G>A (n.-98-6936G>A)
n.5339G>A
n.5380G>A
 ClinVar dbSNP
17g.43057126_43057127delinsCACA2260766466BRCA1c.5199_5200delinsTG (p.Phe1733=)
c.5202_5203delinsTG (p.Phe1734=)
c.5076_5077delinsTG (p.Phe1692=)
c.5196_5197delinsTG (p.Phe1732=)
c.5124_5125delinsTG (p.Phe1708=)
c.1890_1891delinsTG (p.Phe630=)
c.1752_1753delinsTG (p.Phe584=)
c.4314_4315delinsTG (p.Phe1438=)
c.5079_5080delinsTG (p.Phe1693=)
c.5268_5269delinsTG (p.Phe1756=)
c.5061_5062delinsTG (p.Phe1687=)
c.1764_1765delinsTG (p.Phe588=)
c.5265_5266delinsTG (p.Phe1755=)
c.1589_1590delinsTG
c.1776_1777delinsTG (p.Phe592=)
c.*4985_*4986delinsTG (n.*4985_*4986delinsTG)
c.132_133delinsTG (p.Phe44=)
c.675_676delinsTG (p.Phe225=)
c.-98-6937_-98-6936delinsTG (n.-98-6937_-98-6936delinsTG)
n.5338_5339delinsTG
n.5379_5380delinsTG
17g.43057127A=CA2260766467BRCA1c.5199T= (p.Phe1733=)
c.5202T= (p.Phe1734=)
c.5076T= (p.Phe1692=)
c.5196T= (p.Phe1732=)
c.5124T= (p.Phe1708=)
c.1890T= (p.Phe630=)
c.1752T= (p.Phe584=)
c.4314T= (p.Phe1438=)
c.5079T= (p.Phe1693=)
c.5268T= (p.Phe1756=)
c.5061T= (p.Phe1687=)
c.1764T= (p.Phe588=)
c.5265T= (p.Phe1755=)
c.1589T=
c.1776T= (p.Phe592=)
c.*4985T= (n.*4985T=)
c.132T= (p.Phe44=)
c.675T= (p.Phe225=)
c.-98-6937T= (n.-98-6937T=)
n.5338T=
n.5379T=
17g.43057127A>CCA10576081BRCA1c.5199T>G (p.Phe1733Leu)
c.5202T>G (p.Phe1734Leu)
c.5076T>G (p.Phe1692Leu)
c.5196T>G (p.Phe1732Leu)
c.5124T>G (p.Phe1708Leu)
c.1890T>G (p.Phe630Leu)
c.1752T>G (p.Phe584Leu)
c.4314T>G (p.Phe1438Leu)
c.5079T>G (p.Phe1693Leu)
c.5268T>G (p.Phe1756Leu)
c.5061T>G (p.Phe1687Leu)
c.1764T>G (p.Phe588Leu)
c.5265T>G (p.Phe1755Leu)
c.1589T>G
c.1776T>G (p.Phe592Leu)
c.*4985T>G (n.*4985T>G)
c.132T>G (p.Phe44Leu)
c.675T>G (p.Phe225Leu)
c.-98-6937T>G (n.-98-6937T>G)
n.5338T>G
n.5379T>G
 ClinVar dbSNP
17g.43057127A>GCA500144877BRCA1c.5199T>C (p.Phe1733=)
c.5202T>C (p.Phe1734=)
c.5076T>C (p.Phe1692=)
c.5196T>C (p.Phe1732=)
c.5124T>C (p.Phe1708=)
c.1890T>C (p.Phe630=)
c.1752T>C (p.Phe584=)
c.4314T>C (p.Phe1438=)
c.5079T>C (p.Phe1693=)
c.5268T>C (p.Phe1756=)
c.5061T>C (p.Phe1687=)
c.1764T>C (p.Phe588=)
c.5265T>C (p.Phe1755=)
c.1589T>C
c.1776T>C (p.Phe592=)
c.*4985T>C (n.*4985T>C)
c.132T>C (p.Phe44=)
c.675T>C (p.Phe225=)
c.-98-6937T>C (n.-98-6937T>C)
n.5338T>C
n.5379T>C
 ClinVar dbSNP
17g.43057127A>TCA10591131BRCA1c.5199T>A (p.Phe1733Leu)
c.5202T>A (p.Phe1734Leu)
c.5076T>A (p.Phe1692Leu)
c.5196T>A (p.Phe1732Leu)
c.5124T>A (p.Phe1708Leu)
c.1890T>A (p.Phe630Leu)
c.1752T>A (p.Phe584Leu)
c.4314T>A (p.Phe1438Leu)
c.5079T>A (p.Phe1693Leu)
c.5268T>A (p.Phe1756Leu)
c.5061T>A (p.Phe1687Leu)
c.1764T>A (p.Phe588Leu)
c.5265T>A (p.Phe1755Leu)
c.1589T>A
c.1776T>A (p.Phe592Leu)
c.*4985T>A (n.*4985T>A)
c.132T>A (p.Phe44Leu)
c.675T>A (p.Phe225Leu)
c.-98-6937T>A (n.-98-6937T>A)
n.5338T>A
n.5379T>A
 ClinVar dbSNP
17g.43057130dupCA1139768316BRCA1c.5199dup (p.Glu1734Ter)
c.5202dup (p.Glu1735Ter)
c.5076dup (p.Glu1693Ter)
c.5196dup (p.Glu1733Ter)
c.5124dup (p.Glu1709Ter)
c.1890dup (p.Glu631Ter)
c.1752dup (p.Glu585Ter)
c.4314dup (p.Glu1439Ter)
c.5079dup (p.Glu1694Ter)
c.5268dup (p.Glu1757Ter)
c.5061dup (p.Glu1688Ter)
c.1764dup (p.Glu589Ter)
c.5265dup (p.Glu1756Ter)
c.1589dup
c.1776dup (p.Glu593Ter)
c.*4985dup (n.*4985dup)
c.132dup (p.Glu45Ter)
c.675dup (p.Glu226Ter)
c.-98-6937dup (n.-98-6937dup)
n.5338dup
n.5379dup
 ClinVar dbSNP
17g.43057130delCA10580494BRCA1c.5199del (p.Phe1733LeufsTer?)
c.5202del (p.Phe1734LeufsTer?)
c.5076del (p.Phe1692LeufsTer?)
c.5196del (p.Phe1732LeufsTer?)
c.5124del (p.Phe1708LeufsTer?)
c.1890del (p.Phe630LeufsTer?)
c.1752del (p.Phe584LeufsTer?)
c.4314del (p.Phe1438LeufsTer?)
c.5079del (p.Phe1693LeufsTer?)
c.5268del (p.Phe1756LeufsTer?)
c.5061del (p.Phe1687LeufsTer?)
c.1764del (p.Phe588LeufsTer?)
c.5265del (p.Phe1755LeufsTer?)
c.1589del
c.1776del (p.Phe592LeufsTer?)
c.*4985del (n.*4985del)
c.132del (p.Phe44LeufsTer?)
c.675del (p.Phe225LeufsTer?)
c.-98-6937del (n.-98-6937del)
n.5338del
n.5379del
 ClinVar dbSNP
17g.43057127_43057128insGCA658824716BRCA1c.5198_5199insC (p.Glu1734Ter)
c.5201_5202insC (p.Glu1735Ter)
c.5075_5076insC (p.Glu1693Ter)
c.5195_5196insC (p.Glu1733Ter)
c.5123_5124insC (p.Glu1709Ter)
c.1889_1890insC (p.Glu631Ter)
c.1751_1752insC (p.Glu585Ter)
c.4313_4314insC (p.Glu1439Ter)
c.5078_5079insC (p.Glu1694Ter)
c.5267_5268insC (p.Glu1757Ter)
c.5060_5061insC (p.Glu1688Ter)
c.1763_1764insC (p.Glu589Ter)
c.5264_5265insC (p.Glu1756Ter)
c.1588_1589insC
c.1775_1776insC (p.Glu593Ter)
c.*4984_*4985insC (n.*4984_*4985insC)
c.131_132insC (p.Glu45Ter)
c.674_675insC (p.Glu226Ter)
c.-98-6938_-98-6937insC (n.-98-6938_-98-6937insC)
n.5337_5338insC
n.5378_5379insC
 ClinVar dbSNP
17g.43057128A=CA2260766468BRCA1c.5198T= (p.Phe1733=)
c.5201T= (p.Phe1734=)
c.5075T= (p.Phe1692=)
c.5195T= (p.Phe1732=)
c.5123T= (p.Phe1708=)
c.1889T= (p.Phe630=)
c.1751T= (p.Phe584=)
c.4313T= (p.Phe1438=)
c.5078T= (p.Phe1693=)
c.5267T= (p.Phe1756=)
c.5060T= (p.Phe1687=)
c.1763T= (p.Phe588=)
c.5264T= (p.Phe1755=)
c.1588T=
c.1775T= (p.Phe592=)
c.*4984T= (n.*4984T=)
c.131T= (p.Phe44=)
c.674T= (p.Phe225=)
c.-98-6938T= (n.-98-6938T=)
n.5337T=
n.5378T=
17g.43057128A>CCA10591132BRCA1c.5198T>G (p.Phe1733Cys)
c.5201T>G (p.Phe1734Cys)
c.5075T>G (p.Phe1692Cys)
c.5195T>G (p.Phe1732Cys)
c.5123T>G (p.Phe1708Cys)
c.1889T>G (p.Phe630Cys)
c.1751T>G (p.Phe584Cys)
c.4313T>G (p.Phe1438Cys)
c.5078T>G (p.Phe1693Cys)
c.5267T>G (p.Phe1756Cys)
c.5060T>G (p.Phe1687Cys)
c.1763T>G (p.Phe588Cys)
c.5264T>G (p.Phe1755Cys)
c.1588T>G
c.1775T>G (p.Phe592Cys)
c.*4984T>G (n.*4984T>G)
c.131T>G (p.Phe44Cys)
c.674T>G (p.Phe225Cys)
c.-98-6938T>G (n.-98-6938T>G)
n.5337T>G
n.5378T>G
 ClinVar dbSNP
17g.43057128A>GCA003352BRCA1c.5198T>C (p.Phe1733Ser)
c.5201T>C (p.Phe1734Ser)
c.5075T>C (p.Phe1692Ser)
c.5195T>C (p.Phe1732Ser)
c.5123T>C (p.Phe1708Ser)
c.1889T>C (p.Phe630Ser)
c.1751T>C (p.Phe584Ser)
c.4313T>C (p.Phe1438Ser)
c.5078T>C (p.Phe1693Ser)
c.5267T>C (p.Phe1756Ser)
c.5060T>C (p.Phe1687Ser)
c.1763T>C (p.Phe588Ser)
c.5264T>C (p.Phe1755Ser)
c.1588T>C
c.1775T>C (p.Phe592Ser)
c.*4984T>C (n.*4984T>C)
c.131T>C (p.Phe44Ser)
c.674T>C (p.Phe225Ser)
c.-98-6938T>C (n.-98-6938T>C)
n.5337T>C
n.5378T>C
 ClinVar dbSNP
17g.43057128A>TCA10591133BRCA1c.5198T>A (p.Phe1733Tyr)
c.5201T>A (p.Phe1734Tyr)
c.5075T>A (p.Phe1692Tyr)
c.5195T>A (p.Phe1732Tyr)
c.5123T>A (p.Phe1708Tyr)
c.1889T>A (p.Phe630Tyr)
c.1751T>A (p.Phe584Tyr)
c.4313T>A (p.Phe1438Tyr)
c.5078T>A (p.Phe1693Tyr)
c.5267T>A (p.Phe1756Tyr)
c.5060T>A (p.Phe1687Tyr)
c.1763T>A (p.Phe588Tyr)
c.5264T>A (p.Phe1755Tyr)
c.1588T>A
c.1775T>A (p.Phe592Tyr)
c.*4984T>A (n.*4984T>A)
c.131T>A (p.Phe44Tyr)
c.674T>A (p.Phe225Tyr)
c.-98-6938T>A (n.-98-6938T>A)
n.5337T>A
n.5378T>A
 ClinVar dbSNP
17g.43057128_43057129insGCA645373154BRCA1c.5197_5198insC (p.Phe1733SerfsTer2)
c.5200_5201insC (p.Phe1734SerfsTer2)
c.5074_5075insC (p.Phe1692SerfsTer2)
c.5194_5195insC (p.Phe1732SerfsTer2)
c.5122_5123insC (p.Phe1708SerfsTer2)
c.1888_1889insC (p.Phe630SerfsTer2)
c.1750_1751insC (p.Phe584SerfsTer2)
c.4312_4313insC (p.Phe1438SerfsTer2)
c.5077_5078insC (p.Phe1693SerfsTer2)
c.5266_5267insC (p.Phe1756SerfsTer2)
c.5059_5060insC (p.Phe1687SerfsTer2)
c.1762_1763insC (p.Phe588SerfsTer2)
c.5263_5264insC (p.Phe1755SerfsTer2)
c.1587_1588insC
c.1774_1775insC (p.Phe592SerfsTer2)
c.*4983_*4984insC (n.*4983_*4984insC)
c.130_131insC (p.Phe44SerfsTer2)
c.673_674insC (p.Phe225SerfsTer2)
c.-98-6939_-98-6938insC (n.-98-6939_-98-6938insC)
n.5336_5337insC
n.5377_5378insC
 ClinVar dbSNP
17g.43057129A=CA2260766469BRCA1c.5197T= (p.Phe1733=)
c.5200T= (p.Phe1734=)
c.5074T= (p.Phe1692=)
c.5194T= (p.Phe1732=)
c.5122T= (p.Phe1708=)
c.1888T= (p.Phe630=)
c.1750T= (p.Phe584=)
c.4312T= (p.Phe1438=)
c.5077T= (p.Phe1693=)
c.5266T= (p.Phe1756=)
c.5059T= (p.Phe1687=)
c.1762T= (p.Phe588=)
c.5263T= (p.Phe1755=)
c.1587T=
c.1774T= (p.Phe592=)
c.*4983T= (n.*4983T=)
c.130T= (p.Phe44=)
c.673T= (p.Phe225=)
c.-98-6939T= (n.-98-6939T=)
n.5336T=
n.5377T=
17g.43057129A>CCA10591134BRCA1c.5197T>G (p.Phe1733Val)
c.5200T>G (p.Phe1734Val)
c.5074T>G (p.Phe1692Val)
c.5194T>G (p.Phe1732Val)
c.5122T>G (p.Phe1708Val)
c.1888T>G (p.Phe630Val)
c.1750T>G (p.Phe584Val)
c.4312T>G (p.Phe1438Val)
c.5077T>G (p.Phe1693Val)
c.5266T>G (p.Phe1756Val)
c.5059T>G (p.Phe1687Val)
c.1762T>G (p.Phe588Val)
c.5263T>G (p.Phe1755Val)
c.1587T>G
c.1774T>G (p.Phe592Val)
c.*4983T>G (n.*4983T>G)
c.130T>G (p.Phe44Val)
c.673T>G (p.Phe225Val)
c.-98-6939T>G (n.-98-6939T>G)
n.5336T>G
n.5377T>G
 ClinVar dbSNP
17g.43057129A>GCA003350BRCA1c.5197T>C (p.Phe1733Leu)
c.5200T>C (p.Phe1734Leu)
c.5074T>C (p.Phe1692Leu)
c.5194T>C (p.Phe1732Leu)
c.5122T>C (p.Phe1708Leu)
c.1888T>C (p.Phe630Leu)
c.1750T>C (p.Phe584Leu)
c.4312T>C (p.Phe1438Leu)
c.5077T>C (p.Phe1693Leu)
c.5266T>C (p.Phe1756Leu)
c.5059T>C (p.Phe1687Leu)
c.1762T>C (p.Phe588Leu)
c.5263T>C (p.Phe1755Leu)
c.1587T>C
c.1774T>C (p.Phe592Leu)
c.*4983T>C (n.*4983T>C)
c.130T>C (p.Phe44Leu)
c.673T>C (p.Phe225Leu)
c.-98-6939T>C (n.-98-6939T>C)
n.5336T>C
n.5377T>C
 ClinVar dbSNP
17g.43057129A>TCA10580495BRCA1c.5197T>A (p.Phe1733Ile)
c.5200T>A (p.Phe1734Ile)
c.5074T>A (p.Phe1692Ile)
c.5194T>A (p.Phe1732Ile)
c.5122T>A (p.Phe1708Ile)
c.1888T>A (p.Phe630Ile)
c.1750T>A (p.Phe584Ile)
c.4312T>A (p.Phe1438Ile)
c.5077T>A (p.Phe1693Ile)
c.5266T>A (p.Phe1756Ile)
c.5059T>A (p.Phe1687Ile)
c.1762T>A (p.Phe588Ile)
c.5263T>A (p.Phe1755Ile)
c.1587T>A
c.1774T>A (p.Phe592Ile)
c.*4983T>A (n.*4983T>A)
c.130T>A (p.Phe44Ile)
c.673T>A (p.Phe225Ile)
c.-98-6939T>A (n.-98-6939T>A)
n.5336T>A
n.5377T>A
 ClinVar dbSNP
17g.43057129_43057132delinsAATCCA2260766470BRCA1c.5194_5197delinsGATT (p.Asp1732=)
c.5197_5200delinsGATT (p.Asp1733=)
c.5071_5074delinsGATT (p.Asp1691=)
c.5191_5194delinsGATT (p.Asp1731=)
c.5119_5122delinsGATT (p.Asp1707=)
c.1885_1888delinsGATT (p.Asp629=)
c.1747_1750delinsGATT (p.Asp583=)
c.4309_4312delinsGATT (p.Asp1437=)
c.5074_5077delinsGATT (p.Asp1692=)
c.5263_5266delinsGATT (p.Asp1755=)
c.5056_5059delinsGATT (p.Asp1686=)
c.1759_1762delinsGATT (p.Asp587=)
c.5260_5263delinsGATT (p.Asp1754=)
c.1584_1587delinsGATT
c.1771_1774delinsGATT (p.Asp591=)
c.*4980_*4983delinsGATT (n.*4980_*4983delinsGATT)
c.127_130delinsGATT (p.Asp43=)
c.670_673delinsGATT (p.Asp224=)
c.-98-6942_-98-6939delinsGATT (n.-98-6942_-98-6939delinsGATT)
n.5333_5336delinsGATT
n.5374_5377delinsGATT
17g.43057130A=CA2260766471BRCA1c.5196T= (p.Asp1732=)
c.5199T= (p.Asp1733=)
c.5073T= (p.Asp1691=)
c.5193T= (p.Asp1731=)
c.5121T= (p.Asp1707=)
c.1887T= (p.Asp629=)
c.1749T= (p.Asp583=)
c.4311T= (p.Asp1437=)
c.5076T= (p.Asp1692=)
c.5265T= (p.Asp1755=)
c.5058T= (p.Asp1686=)
c.1761T= (p.Asp587=)
c.5262T= (p.Asp1754=)
c.1586T=
c.1773T= (p.Asp591=)
c.*4982T= (n.*4982T=)
c.129T= (p.Asp43=)
c.672T= (p.Asp224=)
c.-98-6940T= (n.-98-6940T=)
n.5335T=
n.5376T=
17g.43057130A>CCA10591135BRCA1c.5196T>G (p.Asp1732Glu)
c.5199T>G (p.Asp1733Glu)
c.5073T>G (p.Asp1691Glu)
c.5193T>G (p.Asp1731Glu)
c.5121T>G (p.Asp1707Glu)
c.1887T>G (p.Asp629Glu)
c.1749T>G (p.Asp583Glu)
c.4311T>G (p.Asp1437Glu)
c.5076T>G (p.Asp1692Glu)
c.5265T>G (p.Asp1755Glu)
c.5058T>G (p.Asp1686Glu)
c.1761T>G (p.Asp587Glu)
c.5262T>G (p.Asp1754Glu)
c.1586T>G
c.1773T>G (p.Asp591Glu)
c.*4982T>G (n.*4982T>G)
c.129T>G (p.Asp43Glu)
c.672T>G (p.Asp224Glu)
c.-98-6940T>G (n.-98-6940T>G)
n.5335T>G
n.5376T>G
 ClinVar dbSNP
17g.43057130A>GCA500144895BRCA1c.5196T>C (p.Asp1732=)
c.5199T>C (p.Asp1733=)
c.5073T>C (p.Asp1691=)
c.5193T>C (p.Asp1731=)
c.5121T>C (p.Asp1707=)
c.1887T>C (p.Asp629=)
c.1749T>C (p.Asp583=)
c.4311T>C (p.Asp1437=)
c.5076T>C (p.Asp1692=)
c.5265T>C (p.Asp1755=)
c.5058T>C (p.Asp1686=)
c.1761T>C (p.Asp587=)
c.5262T>C (p.Asp1754=)
c.1586T>C
c.1773T>C (p.Asp591=)
c.*4982T>C (n.*4982T>C)
c.129T>C (p.Asp43=)
c.672T>C (p.Asp224=)
c.-98-6940T>C (n.-98-6940T>C)
n.5335T>C
n.5376T>C
 ClinVar dbSNP
17g.43057130A>TCA10591136BRCA1c.5196T>A (p.Asp1732Glu)
c.5199T>A (p.Asp1733Glu)
c.5073T>A (p.Asp1691Glu)
c.5193T>A (p.Asp1731Glu)
c.5121T>A (p.Asp1707Glu)
c.1887T>A (p.Asp629Glu)
c.1749T>A (p.Asp583Glu)
c.4311T>A (p.Asp1437Glu)
c.5076T>A (p.Asp1692Glu)
c.5265T>A (p.Asp1755Glu)
c.5058T>A (p.Asp1686Glu)
c.1761T>A (p.Asp587Glu)
c.5262T>A (p.Asp1754Glu)
c.1586T>A
c.1773T>A (p.Asp591Glu)
c.*4982T>A (n.*4982T>A)
c.129T>A (p.Asp43Glu)
c.672T>A (p.Asp224Glu)
c.-98-6940T>A (n.-98-6940T>A)
n.5335T>A
n.5376T>A
 ClinVar dbSNP
17g.43057132_43057134delCA915950059BRCA1c.5194_5196del (p.Asp1732del)
c.5197_5199del (p.Asp1733del)
c.5071_5073del (p.Asp1691del)
c.5191_5193del (p.Asp1731del)
c.5119_5121del (p.Asp1707del)
c.1885_1887del (p.Asp629del)
c.1747_1749del (p.Asp583del)
c.4309_4311del (p.Asp1437del)
c.5074_5076del (p.Asp1692del)
c.5263_5265del (p.Asp1755del)
c.5056_5058del (p.Asp1686del)
c.1759_1761del (p.Asp587del)
c.5260_5262del (p.Asp1754del)
c.1584_1586del
c.1771_1773del (p.Asp591del)
c.*4980_*4982del (n.*4980_*4982del)
c.127_129del (p.Asp43del)
c.670_672del (p.Asp224del)
c.-98-6942_-98-6940del (n.-98-6942_-98-6940del)
n.5333_5335del
n.5374_5376del
 ClinVar dbSNP
17g.43057131T>ACA054223BRCA1c.5195A>T (p.Asp1732Val)
c.5198A>T (p.Asp1733Val)
c.5072A>T (p.Asp1691Val)
c.5192A>T (p.Asp1731Val)
c.5120A>T (p.Asp1707Val)
c.1886A>T (p.Asp629Val)
c.1748A>T (p.Asp583Val)
c.4310A>T (p.Asp1437Val)
c.5075A>T (p.Asp1692Val)
c.5264A>T (p.Asp1755Val)
c.5057A>T (p.Asp1686Val)
c.1760A>T (p.Asp587Val)
c.5261A>T (p.Asp1754Val)
c.1585A>T
c.1772A>T (p.Asp591Val)
c.*4981A>T (n.*4981A>T)
c.128A>T (p.Asp43Val)
c.671A>T (p.Asp224Val)
c.-98-6941A>T (n.-98-6941A>T)
n.5334A>T
n.5375A>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.43057131T>CCA003349BRCA1c.5195A>G (p.Asp1732Gly)
c.5198A>G (p.Asp1733Gly)
c.5072A>G (p.Asp1691Gly)
c.5192A>G (p.Asp1731Gly)
c.5120A>G (p.Asp1707Gly)
c.1886A>G (p.Asp629Gly)
c.1748A>G (p.Asp583Gly)
c.4310A>G (p.Asp1437Gly)
c.5075A>G (p.Asp1692Gly)
c.5264A>G (p.Asp1755Gly)
c.5057A>G (p.Asp1686Gly)
c.1760A>G (p.Asp587Gly)
c.5261A>G (p.Asp1754Gly)
c.1585A>G
c.1772A>G (p.Asp591Gly)
c.*4981A>G (n.*4981A>G)
c.128A>G (p.Asp43Gly)
c.671A>G (p.Asp224Gly)
c.-98-6941A>G (n.-98-6941A>G)
n.5334A>G
n.5375A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.43057131T>GCA10591137BRCA1c.5195A>C (p.Asp1732Ala)
c.5198A>C (p.Asp1733Ala)
c.5072A>C (p.Asp1691Ala)
c.5192A>C (p.Asp1731Ala)
c.5120A>C (p.Asp1707Ala)
c.1886A>C (p.Asp629Ala)
c.1748A>C (p.Asp583Ala)
c.4310A>C (p.Asp1437Ala)
c.5075A>C (p.Asp1692Ala)
c.5264A>C (p.Asp1755Ala)
c.5057A>C (p.Asp1686Ala)
c.1760A>C (p.Asp587Ala)
c.5261A>C (p.Asp1754Ala)
c.1585A>C
c.1772A>C (p.Asp591Ala)
c.*4981A>C (n.*4981A>C)
c.128A>C (p.Asp43Ala)
c.671A>C (p.Asp224Ala)
c.-98-6941A>C (n.-98-6941A>C)
n.5334A>C
n.5375A>C
 ClinVar dbSNP
17g.43057131T=CA2260766473BRCA1c.5195A= (p.Asp1732=)
c.5198A= (p.Asp1733=)
c.5072A= (p.Asp1691=)
c.5192A= (p.Asp1731=)
c.5120A= (p.Asp1707=)
c.1886A= (p.Asp629=)
c.1748A= (p.Asp583=)
c.4310A= (p.Asp1437=)
c.5075A= (p.Asp1692=)
c.5264A= (p.Asp1755=)
c.5057A= (p.Asp1686=)
c.1760A= (p.Asp587=)
c.5261A= (p.Asp1754=)
c.1585A=
c.1772A= (p.Asp591=)
c.*4981A= (n.*4981A=)
c.128A= (p.Asp43=)
c.671A= (p.Asp224=)
c.-98-6941A= (n.-98-6941A=)
n.5334A=
n.5375A=
17g.43057131_43057136delinsTCATGCCA2260766472BRCA1c.5191-1_5195delinsGCATGA
c.5194-1_5198delinsGCATGA
c.5068-1_5072delinsGCATGA
c.5188-1_5192delinsGCATGA
c.5116-1_5120delinsGCATGA
c.1882-1_1886delinsGCATGA
c.1744-1_1748delinsGCATGA
c.4306-1_4310delinsGCATGA
c.5071-1_5075delinsGCATGA
c.5260-1_5264delinsGCATGA
c.5053-1_5057delinsGCATGA
c.1756-1_1760delinsGCATGA
c.5257-1_5261delinsGCATGA
c.1581-1_1585delinsGCATGA
c.1768-1_1772delinsGCATGA
c.*4977-1_*4981delinsGCATGA
c.124-1_128delinsGCATGA
c.667-1_671delinsGCATGA
c.-98-6946_-98-6941delinsGCATGA (n.-98-6946_-98-6941delinsGCATGA)
n.5330-1_5334delinsGCATGA
n.5371-1_5375delinsGCATGA
17g.43057132C>ACA10591138BRCA1c.5194G>T (p.Asp1732Tyr)
c.5197G>T (p.Asp1733Tyr)
c.5071G>T (p.Asp1691Tyr)
c.5191G>T (p.Asp1731Tyr)
c.5119G>T (p.Asp1707Tyr)
c.1885G>T (p.Asp629Tyr)
c.1747G>T (p.Asp583Tyr)
c.4309G>T (p.Asp1437Tyr)
c.5074G>T (p.Asp1692Tyr)
c.5263G>T (p.Asp1755Tyr)
c.5056G>T (p.Asp1686Tyr)
c.1759G>T (p.Asp587Tyr)
c.5260G>T (p.Asp1754Tyr)
c.1584G>T
c.1771G>T (p.Asp591Tyr)
c.*4980G>T (n.*4980G>T)
c.127G>T (p.Asp43Tyr)
c.670G>T (p.Asp224Tyr)
c.-98-6942G>T (n.-98-6942G>T)
n.5333G>T
n.5374G>T
 ClinVar dbSNP
17g.43057132C=CA2260766474BRCA1c.5194G= (p.Asp1732=)
c.5197G= (p.Asp1733=)
c.5071G= (p.Asp1691=)
c.5191G= (p.Asp1731=)
c.5119G= (p.Asp1707=)
c.1885G= (p.Asp629=)
c.1747G= (p.Asp583=)
c.4309G= (p.Asp1437=)
c.5074G= (p.Asp1692=)
c.5263G= (p.Asp1755=)
c.5056G= (p.Asp1686=)
c.1759G= (p.Asp587=)
c.5260G= (p.Asp1754=)
c.1584G=
c.1771G= (p.Asp591=)
c.*4980G= (n.*4980G=)
c.127G= (p.Asp43=)
c.670G= (p.Asp224=)
c.-98-6942G= (n.-98-6942G=)
n.5333G=
n.5374G=
17g.43057132C>GCA10591139BRCA1c.5194G>C (p.Asp1732His)
c.5197G>C (p.Asp1733His)
c.5071G>C (p.Asp1691His)
c.5191G>C (p.Asp1731His)
c.5119G>C (p.Asp1707His)
c.1885G>C (p.Asp629His)
c.1747G>C (p.Asp583His)
c.4309G>C (p.Asp1437His)
c.5074G>C (p.Asp1692His)
c.5263G>C (p.Asp1755His)
c.5056G>C (p.Asp1686His)
c.1759G>C (p.Asp587His)
c.5260G>C (p.Asp1754His)
c.1584G>C
c.1771G>C (p.Asp591His)
c.*4980G>C (n.*4980G>C)
c.127G>C (p.Asp43His)
c.670G>C (p.Asp224His)
c.-98-6942G>C (n.-98-6942G>C)
n.5333G>C
n.5374G>C
 ClinVar dbSNP
17g.43057132C>TCA003348BRCA1c.5194G>A (p.Asp1732Asn)
c.5197G>A (p.Asp1733Asn)
c.5071G>A (p.Asp1691Asn)
c.5191G>A (p.Asp1731Asn)
c.5119G>A (p.Asp1707Asn)
c.1885G>A (p.Asp629Asn)
c.1747G>A (p.Asp583Asn)
c.4309G>A (p.Asp1437Asn)
c.5074G>A (p.Asp1692Asn)
c.5263G>A (p.Asp1755Asn)
c.5056G>A (p.Asp1686Asn)
c.1759G>A (p.Asp587Asn)
c.5260G>A (p.Asp1754Asn)
c.1584G>A
c.1771G>A (p.Asp591Asn)
c.*4980G>A (n.*4980G>A)
c.127G>A (p.Asp43Asn)
c.670G>A (p.Asp224Asn)
c.-98-6942G>A (n.-98-6942G>A)
n.5333G>A
n.5374G>A
 ClinVar dbSNP COSMIC COSMIC
17g.43057132_43057136delinsAATACA658656666BRCA1c.5191-1_5194delinsTATT
c.5194-1_5197delinsTATT
c.5068-1_5071delinsTATT
c.5188-1_5191delinsTATT
c.5116-1_5119delinsTATT
c.1882-1_1885delinsTATT
c.1744-1_1747delinsTATT
c.4306-1_4309delinsTATT
c.5071-1_5074delinsTATT
c.5260-1_5263delinsTATT
c.5053-1_5056delinsTATT
c.1756-1_1759delinsTATT
c.5257-1_5260delinsTATT
c.1581-1_1584delinsTATT
c.1768-1_1771delinsTATT
c.*4977-1_*4980delinsTATT
c.124-1_127delinsTATT
c.667-1_670delinsTATT
c.-98-6946_-98-6942delinsTATT (n.-98-6946_-98-6942delinsTATT)
n.5330-1_5333delinsTATT
n.5371-1_5374delinsTATT
 ClinVar dbSNP
17g.43057133_43063930delCA916079884BRCA1c.5094_5194del
c.5097_5197del
c.4971_5071del
c.5091_5191del
c.5019_5119del
c.1785_1885del
c.1647_1747del
c.4209_4309del
c.4974_5074del
c.5163_5263del
c.4956_5056del
c.1659_1759del
c.5160_5260del
c.1484_1584del
c.1671_1771del
c.*4880_*4980del
c.27_127del
c.570_670del
c.-98-13739_-98-6942del (n.-98-13739_-98-6942del)
n.5233_5333del
n.5274_5374del
17g.43057133A=CA2260766475BRCA1c.5193T= (p.His1731=)
c.5196T= (p.His1732=)
c.5070T= (p.His1690=)
c.5190T= (p.His1730=)
c.5118T= (p.His1706=)
c.1884T= (p.His628=)
c.1746T= (p.His582=)
c.4308T= (p.His1436=)
c.5073T= (p.His1691=)
c.5262T= (p.His1754=)
c.5055T= (p.His1685=)
c.1758T= (p.His586=)
c.5259T= (p.His1753=)
c.1583T=
c.1770T= (p.His590=)
c.*4979T= (n.*4979T=)
c.126T= (p.His42=)
c.669T= (p.His223=)
c.-98-6943T= (n.-98-6943T=)
n.5332T=
n.5373T=
17g.43057133A>CCA10591140BRCA1c.5193T>G (p.His1731Gln)
c.5196T>G (p.His1732Gln)
c.5070T>G (p.His1690Gln)
c.5190T>G (p.His1730Gln)
c.5118T>G (p.His1706Gln)
c.1884T>G (p.His628Gln)
c.1746T>G (p.His582Gln)
c.4308T>G (p.His1436Gln)
c.5073T>G (p.His1691Gln)
c.5262T>G (p.His1754Gln)
c.5055T>G (p.His1685Gln)
c.1758T>G (p.His586Gln)
c.5259T>G (p.His1753Gln)
c.1583T>G
c.1770T>G (p.His590Gln)
c.*4979T>G (n.*4979T>G)
c.126T>G (p.His42Gln)
c.669T>G (p.His223Gln)
c.-98-6943T>G (n.-98-6943T>G)
n.5332T>G
n.5373T>G
 ClinVar dbSNP
17g.43057133A>GCA500144912BRCA1c.5193T>C (p.His1731=)
c.5196T>C (p.His1732=)
c.5070T>C (p.His1690=)
c.5190T>C (p.His1730=)
c.5118T>C (p.His1706=)
c.1884T>C (p.His628=)
c.1746T>C (p.His582=)
c.4308T>C (p.His1436=)
c.5073T>C (p.His1691=)
c.5262T>C (p.His1754=)
c.5055T>C (p.His1685=)
c.1758T>C (p.His586=)
c.5259T>C (p.His1753=)
c.1583T>C
c.1770T>C (p.His590=)
c.*4979T>C (n.*4979T>C)
c.126T>C (p.His42=)
c.669T>C (p.His223=)
c.-98-6943T>C (n.-98-6943T>C)
n.5332T>C
n.5373T>C
 ClinVar dbSNP
17g.43057133A>TCA10591141BRCA1c.5193T>A (p.His1731Gln)
c.5196T>A (p.His1732Gln)
c.5070T>A (p.His1690Gln)
c.5190T>A (p.His1730Gln)
c.5118T>A (p.His1706Gln)
c.1884T>A (p.His628Gln)
c.1746T>A (p.His582Gln)
c.4308T>A (p.His1436Gln)
c.5073T>A (p.His1691Gln)
c.5262T>A (p.His1754Gln)
c.5055T>A (p.His1685Gln)
c.1758T>A (p.His586Gln)
c.5259T>A (p.His1753Gln)
c.1583T>A
c.1770T>A (p.His590Gln)
c.*4979T>A (n.*4979T>A)
c.126T>A (p.His42Gln)
c.669T>A (p.His223Gln)
c.-98-6943T>A (n.-98-6943T>A)
n.5332T>A
n.5373T>A
 ClinVar dbSNP
17g.43057133_43063931delCA923726270BRCA1c.5092_5193del
c.5095_5196del
c.4969_5070del
c.5089_5190del
c.5017_5118del
c.1783_1884del
c.1645_1746del
c.4207_4308del
c.4972_5073del
c.5161_5262del
c.4954_5055del
c.1657_1758del
c.5158_5259del
c.1482_1583del
c.1669_1770del
c.*4878_*4979del
c.25_126del
c.568_669del
c.-98-13741_-98-6943del (n.-98-13741_-98-6943del)
n.5231_5332del
n.5272_5373del

Number of alleles fetched