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.43056993_43057004dupCA290823254BRCA1c.5274+48_5274+59dup (n.5274+48_5274+59dup)
c.5277+48_5277+59dup (n.5277+48_5277+59dup)
c.5151+48_5151+59dup (n.5151+48_5151+59dup)
c.5271+48_5271+59dup (n.5271+48_5271+59dup)
c.5199+48_5199+59dup (n.5199+48_5199+59dup)
c.1965+48_1965+59dup (n.1965+48_1965+59dup)
c.1827+48_1827+59dup (n.1827+48_1827+59dup)
c.4389+48_4389+59dup (n.4389+48_4389+59dup)
c.5154+48_5154+59dup (n.5154+48_5154+59dup)
c.5343+48_5343+59dup (n.5343+48_5343+59dup)
c.5136+48_5136+59dup (n.5136+48_5136+59dup)
c.1839+48_1839+59dup (n.1839+48_1839+59dup)
c.5340+48_5340+59dup (n.5340+48_5340+59dup)
c.1664+48_1664+59dup
c.1851+48_1851+59dup (n.1851+48_1851+59dup)
c.*5060+48_*5060+59dup (n.*5060+48_*5060+59dup)
c.207+48_207+59dup (n.207+48_207+59dup)
c.750+48_750+59dup (n.750+48_750+59dup)
c.-98-6814_-98-6803dup (n.-98-6814_-98-6803dup)
n.5413+48_5413+59dup
n.5454+48_5454+59dup
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.43057000_43057011delCA2638061206BRCA1c.5274+47_5274+58del (n.5274+47_5274+58del)
c.5277+47_5277+58del (n.5277+47_5277+58del)
c.5151+47_5151+58del (n.5151+47_5151+58del)
c.5271+47_5271+58del (n.5271+47_5271+58del)
c.5199+47_5199+58del (n.5199+47_5199+58del)
c.1965+47_1965+58del (n.1965+47_1965+58del)
c.1827+47_1827+58del (n.1827+47_1827+58del)
c.4389+47_4389+58del (n.4389+47_4389+58del)
c.5154+47_5154+58del (n.5154+47_5154+58del)
c.5343+47_5343+58del (n.5343+47_5343+58del)
c.5136+47_5136+58del (n.5136+47_5136+58del)
c.1839+47_1839+58del (n.1839+47_1839+58del)
c.5340+47_5340+58del (n.5340+47_5340+58del)
c.1664+47_1664+58del
c.1851+47_1851+58del (n.1851+47_1851+58del)
c.*5060+47_*5060+58del (n.*5060+47_*5060+58del)
c.207+47_207+58del (n.207+47_207+58del)
c.750+47_750+58del (n.750+47_750+58del)
c.-98-6815_-98-6804del (n.-98-6815_-98-6804del)
n.5413+47_5413+58del
n.5454+47_5454+58del
 gnomAD v4
17g.43056997_43057000dupCA2576282064BRCA1c.5274+52_5274+55dup (n.5274+52_5274+55dup)
c.5277+52_5277+55dup (n.5277+52_5277+55dup)
c.5151+52_5151+55dup (n.5151+52_5151+55dup)
c.5271+52_5271+55dup (n.5271+52_5271+55dup)
c.5199+52_5199+55dup (n.5199+52_5199+55dup)
c.1965+52_1965+55dup (n.1965+52_1965+55dup)
c.1827+52_1827+55dup (n.1827+52_1827+55dup)
c.4389+52_4389+55dup (n.4389+52_4389+55dup)
c.5154+52_5154+55dup (n.5154+52_5154+55dup)
c.5343+52_5343+55dup (n.5343+52_5343+55dup)
c.5136+52_5136+55dup (n.5136+52_5136+55dup)
c.1839+52_1839+55dup (n.1839+52_1839+55dup)
c.5340+52_5340+55dup (n.5340+52_5340+55dup)
c.1664+52_1664+55dup
c.1851+52_1851+55dup (n.1851+52_1851+55dup)
c.*5060+52_*5060+55dup (n.*5060+52_*5060+55dup)
c.207+52_207+55dup (n.207+52_207+55dup)
c.750+52_750+55dup (n.750+52_750+55dup)
c.-98-6810_-98-6807dup (n.-98-6810_-98-6807dup)
n.5413+52_5413+55dup
n.5454+52_5454+55dup
17g.43056999G>ACA2638061211BRCA1c.5274+53C>T (n.5274+53C>T)
c.5277+53C>T (n.5277+53C>T)
c.5151+53C>T (n.5151+53C>T)
c.5271+53C>T (n.5271+53C>T)
c.5199+53C>T (n.5199+53C>T)
c.1965+53C>T (n.1965+53C>T)
c.1827+53C>T (n.1827+53C>T)
c.4389+53C>T (n.4389+53C>T)
c.5154+53C>T (n.5154+53C>T)
c.5343+53C>T (n.5343+53C>T)
c.5136+53C>T (n.5136+53C>T)
c.1839+53C>T (n.1839+53C>T)
c.5340+53C>T (n.5340+53C>T)
c.1664+53C>T
c.1851+53C>T (n.1851+53C>T)
c.*5060+53C>T (n.*5060+53C>T)
c.207+53C>T (n.207+53C>T)
c.750+53C>T (n.750+53C>T)
c.-98-6809C>T (n.-98-6809C>T)
n.5413+53C>T
n.5454+53C>T
 dbSNP gnomAD v4
17g.43056999G>CCA2260766316BRCA1c.5274+53C>G (n.5274+53C>G)
c.5277+53C>G (n.5277+53C>G)
c.5151+53C>G (n.5151+53C>G)
c.5271+53C>G (n.5271+53C>G)
c.5199+53C>G (n.5199+53C>G)
c.1965+53C>G (n.1965+53C>G)
c.1827+53C>G (n.1827+53C>G)
c.4389+53C>G (n.4389+53C>G)
c.5154+53C>G (n.5154+53C>G)
c.5343+53C>G (n.5343+53C>G)
c.5136+53C>G (n.5136+53C>G)
c.1839+53C>G (n.1839+53C>G)
c.5340+53C>G (n.5340+53C>G)
c.1664+53C>G
c.1851+53C>G (n.1851+53C>G)
c.*5060+53C>G (n.*5060+53C>G)
c.207+53C>G (n.207+53C>G)
c.750+53C>G (n.750+53C>G)
c.-98-6809C>G (n.-98-6809C>G)
n.5413+53C>G
n.5454+53C>G
 dbSNP
17g.43056999G=CA2260766315BRCA1c.5274+53C= (n.5274+53C=)
c.5277+53C= (n.5277+53C=)
c.5151+53C= (n.5151+53C=)
c.5271+53C= (n.5271+53C=)
c.5199+53C= (n.5199+53C=)
c.1965+53C= (n.1965+53C=)
c.1827+53C= (n.1827+53C=)
c.4389+53C= (n.4389+53C=)
c.5154+53C= (n.5154+53C=)
c.5343+53C= (n.5343+53C=)
c.5136+53C= (n.5136+53C=)
c.1839+53C= (n.1839+53C=)
c.5340+53C= (n.5340+53C=)
c.1664+53C=
c.1851+53C= (n.1851+53C=)
c.*5060+53C= (n.*5060+53C=)
c.207+53C= (n.207+53C=)
c.750+53C= (n.750+53C=)
c.-98-6809C= (n.-98-6809C=)
n.5413+53C=
n.5454+53C=
17g.43056999G>TCA2638061212BRCA1c.5274+53C>A (n.5274+53C>A)
c.5277+53C>A (n.5277+53C>A)
c.5151+53C>A (n.5151+53C>A)
c.5271+53C>A (n.5271+53C>A)
c.5199+53C>A (n.5199+53C>A)
c.1965+53C>A (n.1965+53C>A)
c.1827+53C>A (n.1827+53C>A)
c.4389+53C>A (n.4389+53C>A)
c.5154+53C>A (n.5154+53C>A)
c.5343+53C>A (n.5343+53C>A)
c.5136+53C>A (n.5136+53C>A)
c.1839+53C>A (n.1839+53C>A)
c.5340+53C>A (n.5340+53C>A)
c.1664+53C>A
c.1851+53C>A (n.1851+53C>A)
c.*5060+53C>A (n.*5060+53C>A)
c.207+53C>A (n.207+53C>A)
c.750+53C>A (n.750+53C>A)
c.-98-6809C>A (n.-98-6809C>A)
n.5413+53C>A
n.5454+53C>A
 dbSNP gnomAD v4
17g.43057000A>GCA2733912567BRCA1c.5274+52T>C (n.5274+52T>C)
c.5277+52T>C (n.5277+52T>C)
c.5151+52T>C (n.5151+52T>C)
c.5271+52T>C (n.5271+52T>C)
c.5199+52T>C (n.5199+52T>C)
c.1965+52T>C (n.1965+52T>C)
c.1827+52T>C (n.1827+52T>C)
c.4389+52T>C (n.4389+52T>C)
c.5154+52T>C (n.5154+52T>C)
c.5343+52T>C (n.5343+52T>C)
c.5136+52T>C (n.5136+52T>C)
c.1839+52T>C (n.1839+52T>C)
c.5340+52T>C (n.5340+52T>C)
c.1664+52T>C
c.1851+52T>C (n.1851+52T>C)
c.*5060+52T>C (n.*5060+52T>C)
c.207+52T>C (n.207+52T>C)
c.750+52T>C (n.750+52T>C)
c.-98-6810T>C (n.-98-6810T>C)
n.5413+52T>C
n.5454+52T>C
 dbSNP
17g.43057000A>TCA2733912623BRCA1c.5274+52T>A (n.5274+52T>A)
c.5277+52T>A (n.5277+52T>A)
c.5151+52T>A (n.5151+52T>A)
c.5271+52T>A (n.5271+52T>A)
c.5199+52T>A (n.5199+52T>A)
c.1965+52T>A (n.1965+52T>A)
c.1827+52T>A (n.1827+52T>A)
c.4389+52T>A (n.4389+52T>A)
c.5154+52T>A (n.5154+52T>A)
c.5343+52T>A (n.5343+52T>A)
c.5136+52T>A (n.5136+52T>A)
c.1839+52T>A (n.1839+52T>A)
c.5340+52T>A (n.5340+52T>A)
c.1664+52T>A
c.1851+52T>A (n.1851+52T>A)
c.*5060+52T>A (n.*5060+52T>A)
c.207+52T>A (n.207+52T>A)
c.750+52T>A (n.750+52T>A)
c.-98-6810T>A (n.-98-6810T>A)
n.5413+52T>A
n.5454+52T>A
 dbSNP
17g.43057001A>TCA2733912662BRCA1c.5274+51T>A (n.5274+51T>A)
c.5277+51T>A (n.5277+51T>A)
c.5151+51T>A (n.5151+51T>A)
c.5271+51T>A (n.5271+51T>A)
c.5199+51T>A (n.5199+51T>A)
c.1965+51T>A (n.1965+51T>A)
c.1827+51T>A (n.1827+51T>A)
c.4389+51T>A (n.4389+51T>A)
c.5154+51T>A (n.5154+51T>A)
c.5343+51T>A (n.5343+51T>A)
c.5136+51T>A (n.5136+51T>A)
c.1839+51T>A (n.1839+51T>A)
c.5340+51T>A (n.5340+51T>A)
c.1664+51T>A
c.1851+51T>A (n.1851+51T>A)
c.*5060+51T>A (n.*5060+51T>A)
c.207+51T>A (n.207+51T>A)
c.750+51T>A (n.750+51T>A)
c.-98-6811T>A (n.-98-6811T>A)
n.5413+51T>A
n.5454+51T>A
 dbSNP
17g.43057002T>ACA2733676578BRCA1c.5274+50A>T (n.5274+50A>T)
c.5277+50A>T (n.5277+50A>T)
c.5151+50A>T (n.5151+50A>T)
c.5271+50A>T (n.5271+50A>T)
c.5199+50A>T (n.5199+50A>T)
c.1965+50A>T (n.1965+50A>T)
c.1827+50A>T (n.1827+50A>T)
c.4389+50A>T (n.4389+50A>T)
c.5154+50A>T (n.5154+50A>T)
c.5343+50A>T (n.5343+50A>T)
c.5136+50A>T (n.5136+50A>T)
c.1839+50A>T (n.1839+50A>T)
c.5340+50A>T (n.5340+50A>T)
c.1664+50A>T
c.1851+50A>T (n.1851+50A>T)
c.*5060+50A>T (n.*5060+50A>T)
c.207+50A>T (n.207+50A>T)
c.750+50A>T (n.750+50A>T)
c.-98-6812A>T (n.-98-6812A>T)
n.5413+50A>T
n.5454+50A>T
 dbSNP
17g.43057002T>CCA913187795BRCA1c.5274+50A>G (n.5274+50A>G)
c.5277+50A>G (n.5277+50A>G)
c.5151+50A>G (n.5151+50A>G)
c.5271+50A>G (n.5271+50A>G)
c.5199+50A>G (n.5199+50A>G)
c.1965+50A>G (n.1965+50A>G)
c.1827+50A>G (n.1827+50A>G)
c.4389+50A>G (n.4389+50A>G)
c.5154+50A>G (n.5154+50A>G)
c.5343+50A>G (n.5343+50A>G)
c.5136+50A>G (n.5136+50A>G)
c.1839+50A>G (n.1839+50A>G)
c.5340+50A>G (n.5340+50A>G)
c.1664+50A>G
c.1851+50A>G (n.1851+50A>G)
c.*5060+50A>G (n.*5060+50A>G)
c.207+50A>G (n.207+50A>G)
c.750+50A>G (n.750+50A>G)
c.-98-6812A>G (n.-98-6812A>G)
n.5413+50A>G
n.5454+50A>G
 ClinVar dbSNP
17g.43057002T>GCA2733676577BRCA1c.5274+50A>C (n.5274+50A>C)
c.5277+50A>C (n.5277+50A>C)
c.5151+50A>C (n.5151+50A>C)
c.5271+50A>C (n.5271+50A>C)
c.5199+50A>C (n.5199+50A>C)
c.1965+50A>C (n.1965+50A>C)
c.1827+50A>C (n.1827+50A>C)
c.4389+50A>C (n.4389+50A>C)
c.5154+50A>C (n.5154+50A>C)
c.5343+50A>C (n.5343+50A>C)
c.5136+50A>C (n.5136+50A>C)
c.1839+50A>C (n.1839+50A>C)
c.5340+50A>C (n.5340+50A>C)
c.1664+50A>C
c.1851+50A>C (n.1851+50A>C)
c.*5060+50A>C (n.*5060+50A>C)
c.207+50A>C (n.207+50A>C)
c.750+50A>C (n.750+50A>C)
c.-98-6812A>C (n.-98-6812A>C)
n.5413+50A>C
n.5454+50A>C
 dbSNP
17g.43057002T=CA2260766318BRCA1c.5274+50A= (n.5274+50A=)
c.5277+50A= (n.5277+50A=)
c.5151+50A= (n.5151+50A=)
c.5271+50A= (n.5271+50A=)
c.5199+50A= (n.5199+50A=)
c.1965+50A= (n.1965+50A=)
c.1827+50A= (n.1827+50A=)
c.4389+50A= (n.4389+50A=)
c.5154+50A= (n.5154+50A=)
c.5343+50A= (n.5343+50A=)
c.5136+50A= (n.5136+50A=)
c.1839+50A= (n.1839+50A=)
c.5340+50A= (n.5340+50A=)
c.1664+50A=
c.1851+50A= (n.1851+50A=)
c.*5060+50A= (n.*5060+50A=)
c.207+50A= (n.207+50A=)
c.750+50A= (n.750+50A=)
c.-98-6812A= (n.-98-6812A=)
n.5413+50A=
n.5454+50A=
17g.43057002_43057004delinsTACCA2260766317BRCA1c.5274+48_5274+50delinsGTA (n.5274+48_5274+50delinsGTA)
c.5277+48_5277+50delinsGTA (n.5277+48_5277+50delinsGTA)
c.5151+48_5151+50delinsGTA (n.5151+48_5151+50delinsGTA)
c.5271+48_5271+50delinsGTA (n.5271+48_5271+50delinsGTA)
c.5199+48_5199+50delinsGTA (n.5199+48_5199+50delinsGTA)
c.1965+48_1965+50delinsGTA (n.1965+48_1965+50delinsGTA)
c.1827+48_1827+50delinsGTA (n.1827+48_1827+50delinsGTA)
c.4389+48_4389+50delinsGTA (n.4389+48_4389+50delinsGTA)
c.5154+48_5154+50delinsGTA (n.5154+48_5154+50delinsGTA)
c.5343+48_5343+50delinsGTA (n.5343+48_5343+50delinsGTA)
c.5136+48_5136+50delinsGTA (n.5136+48_5136+50delinsGTA)
c.1839+48_1839+50delinsGTA (n.1839+48_1839+50delinsGTA)
c.5340+48_5340+50delinsGTA (n.5340+48_5340+50delinsGTA)
c.1664+48_1664+50delinsGTA
c.1851+48_1851+50delinsGTA (n.1851+48_1851+50delinsGTA)
c.*5060+48_*5060+50delinsGTA (n.*5060+48_*5060+50delinsGTA)
c.207+48_207+50delinsGTA (n.207+48_207+50delinsGTA)
c.750+48_750+50delinsGTA (n.750+48_750+50delinsGTA)
c.-98-6814_-98-6812delinsGTA (n.-98-6814_-98-6812delinsGTA)
n.5413+48_5413+50delinsGTA
n.5454+48_5454+50delinsGTA
17g.43057004_43057005insGGAGTGGACTACCA2638061213BRCA1c.5274+50_5274+51insGTCCACTCCGTA (n.5274+50_5274+51insGTCCACTCCGTA)
c.5277+50_5277+51insGTCCACTCCGTA (n.5277+50_5277+51insGTCCACTCCGTA)
c.5151+50_5151+51insGTCCACTCCGTA (n.5151+50_5151+51insGTCCACTCCGTA)
c.5271+50_5271+51insGTCCACTCCGTA (n.5271+50_5271+51insGTCCACTCCGTA)
c.5199+50_5199+51insGTCCACTCCGTA (n.5199+50_5199+51insGTCCACTCCGTA)
c.1965+50_1965+51insGTCCACTCCGTA (n.1965+50_1965+51insGTCCACTCCGTA)
c.1827+50_1827+51insGTCCACTCCGTA (n.1827+50_1827+51insGTCCACTCCGTA)
c.4389+50_4389+51insGTCCACTCCGTA (n.4389+50_4389+51insGTCCACTCCGTA)
c.5154+50_5154+51insGTCCACTCCGTA (n.5154+50_5154+51insGTCCACTCCGTA)
c.5343+50_5343+51insGTCCACTCCGTA (n.5343+50_5343+51insGTCCACTCCGTA)
c.5136+50_5136+51insGTCCACTCCGTA (n.5136+50_5136+51insGTCCACTCCGTA)
c.1839+50_1839+51insGTCCACTCCGTA (n.1839+50_1839+51insGTCCACTCCGTA)
c.5340+50_5340+51insGTCCACTCCGTA (n.5340+50_5340+51insGTCCACTCCGTA)
c.1664+50_1664+51insGTCCACTCCGTA
c.1851+50_1851+51insGTCCACTCCGTA (n.1851+50_1851+51insGTCCACTCCGTA)
c.*5060+50_*5060+51insGTCCACTCCGTA (n.*5060+50_*5060+51insGTCCACTCCGTA)
c.207+50_207+51insGTCCACTCCGTA (n.207+50_207+51insGTCCACTCCGTA)
c.750+50_750+51insGTCCACTCCGTA (n.750+50_750+51insGTCCACTCCGTA)
c.-98-6812_-98-6811insGTCCACTCCGTA (n.-98-6812_-98-6811insGTCCACTCCGTA)
n.5413+50_5413+51insGTCCACTCCGTA
n.5454+50_5454+51insGTCCACTCCGTA
 gnomAD v4
17g.43057003A=CA2260766319BRCA1c.5274+49T= (n.5274+49T=)
c.5277+49T= (n.5277+49T=)
c.5151+49T= (n.5151+49T=)
c.5271+49T= (n.5271+49T=)
c.5199+49T= (n.5199+49T=)
c.1965+49T= (n.1965+49T=)
c.1827+49T= (n.1827+49T=)
c.4389+49T= (n.4389+49T=)
c.5154+49T= (n.5154+49T=)
c.5343+49T= (n.5343+49T=)
c.5136+49T= (n.5136+49T=)
c.1839+49T= (n.1839+49T=)
c.5340+49T= (n.5340+49T=)
c.1664+49T=
c.1851+49T= (n.1851+49T=)
c.*5060+49T= (n.*5060+49T=)
c.207+49T= (n.207+49T=)
c.750+49T= (n.750+49T=)
c.-98-6813T= (n.-98-6813T=)
n.5413+49T=
n.5454+49T=
17g.43057003A>CCA2733912672BRCA1c.5274+49T>G (n.5274+49T>G)
c.5277+49T>G (n.5277+49T>G)
c.5151+49T>G (n.5151+49T>G)
c.5271+49T>G (n.5271+49T>G)
c.5199+49T>G (n.5199+49T>G)
c.1965+49T>G (n.1965+49T>G)
c.1827+49T>G (n.1827+49T>G)
c.4389+49T>G (n.4389+49T>G)
c.5154+49T>G (n.5154+49T>G)
c.5343+49T>G (n.5343+49T>G)
c.5136+49T>G (n.5136+49T>G)
c.1839+49T>G (n.1839+49T>G)
c.5340+49T>G (n.5340+49T>G)
c.1664+49T>G
c.1851+49T>G (n.1851+49T>G)
c.*5060+49T>G (n.*5060+49T>G)
c.207+49T>G (n.207+49T>G)
c.750+49T>G (n.750+49T>G)
c.-98-6813T>G (n.-98-6813T>G)
n.5413+49T>G
n.5454+49T>G
 dbSNP
17g.43057003A>GCA2733912673BRCA1c.5274+49T>C (n.5274+49T>C)
c.5277+49T>C (n.5277+49T>C)
c.5151+49T>C (n.5151+49T>C)
c.5271+49T>C (n.5271+49T>C)
c.5199+49T>C (n.5199+49T>C)
c.1965+49T>C (n.1965+49T>C)
c.1827+49T>C (n.1827+49T>C)
c.4389+49T>C (n.4389+49T>C)
c.5154+49T>C (n.5154+49T>C)
c.5343+49T>C (n.5343+49T>C)
c.5136+49T>C (n.5136+49T>C)
c.1839+49T>C (n.1839+49T>C)
c.5340+49T>C (n.5340+49T>C)
c.1664+49T>C
c.1851+49T>C (n.1851+49T>C)
c.*5060+49T>C (n.*5060+49T>C)
c.207+49T>C (n.207+49T>C)
c.750+49T>C (n.750+49T>C)
c.-98-6813T>C (n.-98-6813T>C)
n.5413+49T>C
n.5454+49T>C
 dbSNP
17g.43057003A>TCA2733912674BRCA1c.5274+49T>A (n.5274+49T>A)
c.5277+49T>A (n.5277+49T>A)
c.5151+49T>A (n.5151+49T>A)
c.5271+49T>A (n.5271+49T>A)
c.5199+49T>A (n.5199+49T>A)
c.1965+49T>A (n.1965+49T>A)
c.1827+49T>A (n.1827+49T>A)
c.4389+49T>A (n.4389+49T>A)
c.5154+49T>A (n.5154+49T>A)
c.5343+49T>A (n.5343+49T>A)
c.5136+49T>A (n.5136+49T>A)
c.1839+49T>A (n.1839+49T>A)
c.5340+49T>A (n.5340+49T>A)
c.1664+49T>A
c.1851+49T>A (n.1851+49T>A)
c.*5060+49T>A (n.*5060+49T>A)
c.207+49T>A (n.207+49T>A)
c.750+49T>A (n.750+49T>A)
c.-98-6813T>A (n.-98-6813T>A)
n.5413+49T>A
n.5454+49T>A
 dbSNP
17g.43057004_43057005delCA054347BRCA1c.5274+48_5274+49del (n.5274+48_5274+49del)
c.5277+48_5277+49del (n.5277+48_5277+49del)
c.5151+48_5151+49del (n.5151+48_5151+49del)
c.5271+48_5271+49del (n.5271+48_5271+49del)
c.5199+48_5199+49del (n.5199+48_5199+49del)
c.1965+48_1965+49del (n.1965+48_1965+49del)
c.1827+48_1827+49del (n.1827+48_1827+49del)
c.4389+48_4389+49del (n.4389+48_4389+49del)
c.5154+48_5154+49del (n.5154+48_5154+49del)
c.5343+48_5343+49del (n.5343+48_5343+49del)
c.5136+48_5136+49del (n.5136+48_5136+49del)
c.1839+48_1839+49del (n.1839+48_1839+49del)
c.5340+48_5340+49del (n.5340+48_5340+49del)
c.1664+48_1664+49del
c.1851+48_1851+49del (n.1851+48_1851+49del)
c.*5060+48_*5060+49del (n.*5060+48_*5060+49del)
c.207+48_207+49del (n.207+48_207+49del)
c.750+48_750+49del (n.750+48_750+49del)
c.-98-6814_-98-6813del (n.-98-6814_-98-6813del)
n.5413+48_5413+49del
n.5454+48_5454+49del
 dbSNP ExAC
17g.43057003_43057004insACCA290823255BRCA1c.5274+48_5274+49insGT (n.5274+48_5274+49insGT)
c.5277+48_5277+49insGT (n.5277+48_5277+49insGT)
c.5151+48_5151+49insGT (n.5151+48_5151+49insGT)
c.5271+48_5271+49insGT (n.5271+48_5271+49insGT)
c.5199+48_5199+49insGT (n.5199+48_5199+49insGT)
c.1965+48_1965+49insGT (n.1965+48_1965+49insGT)
c.1827+48_1827+49insGT (n.1827+48_1827+49insGT)
c.4389+48_4389+49insGT (n.4389+48_4389+49insGT)
c.5154+48_5154+49insGT (n.5154+48_5154+49insGT)
c.5343+48_5343+49insGT (n.5343+48_5343+49insGT)
c.5136+48_5136+49insGT (n.5136+48_5136+49insGT)
c.1839+48_1839+49insGT (n.1839+48_1839+49insGT)
c.5340+48_5340+49insGT (n.5340+48_5340+49insGT)
c.1664+48_1664+49insGT
c.1851+48_1851+49insGT (n.1851+48_1851+49insGT)
c.*5060+48_*5060+49insGT (n.*5060+48_*5060+49insGT)
c.207+48_207+49insGT (n.207+48_207+49insGT)
c.750+48_750+49insGT (n.750+48_750+49insGT)
c.-98-6814_-98-6813insGT (n.-98-6814_-98-6813insGT)
n.5413+48_5413+49insGT
n.5454+48_5454+49insGT
17g.43057003_43057004insGGAGTGGAATACCA003424BRCA1c.5274+48_5274+49insGTATTCCACTCC (n.5274+48_5274+49insGTATTCCACTCC)
c.5277+48_5277+49insGTATTCCACTCC (n.5277+48_5277+49insGTATTCCACTCC)
c.5151+48_5151+49insGTATTCCACTCC (n.5151+48_5151+49insGTATTCCACTCC)
c.5271+48_5271+49insGTATTCCACTCC (n.5271+48_5271+49insGTATTCCACTCC)
c.5199+48_5199+49insGTATTCCACTCC (n.5199+48_5199+49insGTATTCCACTCC)
c.1965+48_1965+49insGTATTCCACTCC (n.1965+48_1965+49insGTATTCCACTCC)
c.1827+48_1827+49insGTATTCCACTCC (n.1827+48_1827+49insGTATTCCACTCC)
c.4389+48_4389+49insGTATTCCACTCC (n.4389+48_4389+49insGTATTCCACTCC)
c.5154+48_5154+49insGTATTCCACTCC (n.5154+48_5154+49insGTATTCCACTCC)
c.5343+48_5343+49insGTATTCCACTCC (n.5343+48_5343+49insGTATTCCACTCC)
c.5136+48_5136+49insGTATTCCACTCC (n.5136+48_5136+49insGTATTCCACTCC)
c.1839+48_1839+49insGTATTCCACTCC (n.1839+48_1839+49insGTATTCCACTCC)
c.5340+48_5340+49insGTATTCCACTCC (n.5340+48_5340+49insGTATTCCACTCC)
c.1664+48_1664+49insGTATTCCACTCC
c.1851+48_1851+49insGTATTCCACTCC (n.1851+48_1851+49insGTATTCCACTCC)
c.*5060+48_*5060+49insGTATTCCACTCC (n.*5060+48_*5060+49insGTATTCCACTCC)
c.207+48_207+49insGTATTCCACTCC (n.207+48_207+49insGTATTCCACTCC)
c.750+48_750+49insGTATTCCACTCC (n.750+48_750+49insGTATTCCACTCC)
c.-98-6814_-98-6813insGTATTCCACTCC (n.-98-6814_-98-6813insGTATTCCACTCC)
n.5413+48_5413+49insGTATTCCACTCC
n.5454+48_5454+49insGTATTCCACTCC
 ClinVar dbSNP
17g.43057004C=CA2260766320BRCA1c.5274+48G= (n.5274+48G=)
c.5277+48G= (n.5277+48G=)
c.5151+48G= (n.5151+48G=)
c.5271+48G= (n.5271+48G=)
c.5199+48G= (n.5199+48G=)
c.1965+48G= (n.1965+48G=)
c.1827+48G= (n.1827+48G=)
c.4389+48G= (n.4389+48G=)
c.5154+48G= (n.5154+48G=)
c.5343+48G= (n.5343+48G=)
c.5136+48G= (n.5136+48G=)
c.1839+48G= (n.1839+48G=)
c.5340+48G= (n.5340+48G=)
c.1664+48G=
c.1851+48G= (n.1851+48G=)
c.*5060+48G= (n.*5060+48G=)
c.207+48G= (n.207+48G=)
c.750+48G= (n.750+48G=)
c.-98-6814G= (n.-98-6814G=)
n.5413+48G=
n.5454+48G=
17g.43057004C>GCA2733647020BRCA1c.5274+48G>C (n.5274+48G>C)
c.5277+48G>C (n.5277+48G>C)
c.5151+48G>C (n.5151+48G>C)
c.5271+48G>C (n.5271+48G>C)
c.5199+48G>C (n.5199+48G>C)
c.1965+48G>C (n.1965+48G>C)
c.1827+48G>C (n.1827+48G>C)
c.4389+48G>C (n.4389+48G>C)
c.5154+48G>C (n.5154+48G>C)
c.5343+48G>C (n.5343+48G>C)
c.5136+48G>C (n.5136+48G>C)
c.1839+48G>C (n.1839+48G>C)
c.5340+48G>C (n.5340+48G>C)
c.1664+48G>C
c.1851+48G>C (n.1851+48G>C)
c.*5060+48G>C (n.*5060+48G>C)
c.207+48G>C (n.207+48G>C)
c.750+48G>C (n.750+48G>C)
c.-98-6814G>C (n.-98-6814G>C)
n.5413+48G>C
n.5454+48G>C
 dbSNP
17g.43057004C>TCA054354BRCA1c.5274+48G>A (n.5274+48G>A)
c.5277+48G>A (n.5277+48G>A)
c.5151+48G>A (n.5151+48G>A)
c.5271+48G>A (n.5271+48G>A)
c.5199+48G>A (n.5199+48G>A)
c.1965+48G>A (n.1965+48G>A)
c.1827+48G>A (n.1827+48G>A)
c.4389+48G>A (n.4389+48G>A)
c.5154+48G>A (n.5154+48G>A)
c.5343+48G>A (n.5343+48G>A)
c.5136+48G>A (n.5136+48G>A)
c.1839+48G>A (n.1839+48G>A)
c.5340+48G>A (n.5340+48G>A)
c.1664+48G>A
c.1851+48G>A (n.1851+48G>A)
c.*5060+48G>A (n.*5060+48G>A)
c.207+48G>A (n.207+48G>A)
c.750+48G>A (n.750+48G>A)
c.-98-6814G>A (n.-98-6814G>A)
n.5413+48G>A
n.5454+48G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.43057005A=CA2260766321BRCA1c.5274+47T= (n.5274+47T=)
c.5277+47T= (n.5277+47T=)
c.5151+47T= (n.5151+47T=)
c.5271+47T= (n.5271+47T=)
c.5199+47T= (n.5199+47T=)
c.1965+47T= (n.1965+47T=)
c.1827+47T= (n.1827+47T=)
c.4389+47T= (n.4389+47T=)
c.5154+47T= (n.5154+47T=)
c.5343+47T= (n.5343+47T=)
c.5136+47T= (n.5136+47T=)
c.1839+47T= (n.1839+47T=)
c.5340+47T= (n.5340+47T=)
c.1664+47T=
c.1851+47T= (n.1851+47T=)
c.*5060+47T= (n.*5060+47T=)
c.207+47T= (n.207+47T=)
c.750+47T= (n.750+47T=)
c.-98-6815T= (n.-98-6815T=)
n.5413+47T=
n.5454+47T=
17g.43057005A>GCA290823258BRCA1c.5274+47T>C (n.5274+47T>C)
c.5277+47T>C (n.5277+47T>C)
c.5151+47T>C (n.5151+47T>C)
c.5271+47T>C (n.5271+47T>C)
c.5199+47T>C (n.5199+47T>C)
c.1965+47T>C (n.1965+47T>C)
c.1827+47T>C (n.1827+47T>C)
c.4389+47T>C (n.4389+47T>C)
c.5154+47T>C (n.5154+47T>C)
c.5343+47T>C (n.5343+47T>C)
c.5136+47T>C (n.5136+47T>C)
c.1839+47T>C (n.1839+47T>C)
c.5340+47T>C (n.5340+47T>C)
c.1664+47T>C
c.1851+47T>C (n.1851+47T>C)
c.*5060+47T>C (n.*5060+47T>C)
c.207+47T>C (n.207+47T>C)
c.750+47T>C (n.750+47T>C)
c.-98-6815T>C (n.-98-6815T>C)
n.5413+47T>C
n.5454+47T>C
 dbSNP
17g.43057005A>TCA2733654518BRCA1c.5274+47T>A (n.5274+47T>A)
c.5277+47T>A (n.5277+47T>A)
c.5151+47T>A (n.5151+47T>A)
c.5271+47T>A (n.5271+47T>A)
c.5199+47T>A (n.5199+47T>A)
c.1965+47T>A (n.1965+47T>A)
c.1827+47T>A (n.1827+47T>A)
c.4389+47T>A (n.4389+47T>A)
c.5154+47T>A (n.5154+47T>A)
c.5343+47T>A (n.5343+47T>A)
c.5136+47T>A (n.5136+47T>A)
c.1839+47T>A (n.1839+47T>A)
c.5340+47T>A (n.5340+47T>A)
c.1664+47T>A
c.1851+47T>A (n.1851+47T>A)
c.*5060+47T>A (n.*5060+47T>A)
c.207+47T>A (n.207+47T>A)
c.750+47T>A (n.750+47T>A)
c.-98-6815T>A (n.-98-6815T>A)
n.5413+47T>A
n.5454+47T>A
 dbSNP
17g.43057006G>ACA290823275BRCA1c.5274+46C>T (n.5274+46C>T)
c.5277+46C>T (n.5277+46C>T)
c.5151+46C>T (n.5151+46C>T)
c.5271+46C>T (n.5271+46C>T)
c.5199+46C>T (n.5199+46C>T)
c.1965+46C>T (n.1965+46C>T)
c.1827+46C>T (n.1827+46C>T)
c.4389+46C>T (n.4389+46C>T)
c.5154+46C>T (n.5154+46C>T)
c.5343+46C>T (n.5343+46C>T)
c.5136+46C>T (n.5136+46C>T)
c.1839+46C>T (n.1839+46C>T)
c.5340+46C>T (n.5340+46C>T)
c.1664+46C>T
c.1851+46C>T (n.1851+46C>T)
c.*5060+46C>T (n.*5060+46C>T)
c.207+46C>T (n.207+46C>T)
c.750+46C>T (n.750+46C>T)
c.-98-6816C>T (n.-98-6816C>T)
n.5413+46C>T
n.5454+46C>T
 dbSNP gnomAD v4
17g.43057006G>CCA2733650336BRCA1c.5274+46C>G (n.5274+46C>G)
c.5277+46C>G (n.5277+46C>G)
c.5151+46C>G (n.5151+46C>G)
c.5271+46C>G (n.5271+46C>G)
c.5199+46C>G (n.5199+46C>G)
c.1965+46C>G (n.1965+46C>G)
c.1827+46C>G (n.1827+46C>G)
c.4389+46C>G (n.4389+46C>G)
c.5154+46C>G (n.5154+46C>G)
c.5343+46C>G (n.5343+46C>G)
c.5136+46C>G (n.5136+46C>G)
c.1839+46C>G (n.1839+46C>G)
c.5340+46C>G (n.5340+46C>G)
c.1664+46C>G
c.1851+46C>G (n.1851+46C>G)
c.*5060+46C>G (n.*5060+46C>G)
c.207+46C>G (n.207+46C>G)
c.750+46C>G (n.750+46C>G)
c.-98-6816C>G (n.-98-6816C>G)
n.5413+46C>G
n.5454+46C>G
 dbSNP
17g.43057006G=CA2260766322BRCA1c.5274+46C= (n.5274+46C=)
c.5277+46C= (n.5277+46C=)
c.5151+46C= (n.5151+46C=)
c.5271+46C= (n.5271+46C=)
c.5199+46C= (n.5199+46C=)
c.1965+46C= (n.1965+46C=)
c.1827+46C= (n.1827+46C=)
c.4389+46C= (n.4389+46C=)
c.5154+46C= (n.5154+46C=)
c.5343+46C= (n.5343+46C=)
c.5136+46C= (n.5136+46C=)
c.1839+46C= (n.1839+46C=)
c.5340+46C= (n.5340+46C=)
c.1664+46C=
c.1851+46C= (n.1851+46C=)
c.*5060+46C= (n.*5060+46C=)
c.207+46C= (n.207+46C=)
c.750+46C= (n.750+46C=)
c.-98-6816C= (n.-98-6816C=)
n.5413+46C=
n.5454+46C=
17g.43057006G>TCA2638061214BRCA1c.5274+46C>A (n.5274+46C>A)
c.5277+46C>A (n.5277+46C>A)
c.5151+46C>A (n.5151+46C>A)
c.5271+46C>A (n.5271+46C>A)
c.5199+46C>A (n.5199+46C>A)
c.1965+46C>A (n.1965+46C>A)
c.1827+46C>A (n.1827+46C>A)
c.4389+46C>A (n.4389+46C>A)
c.5154+46C>A (n.5154+46C>A)
c.5343+46C>A (n.5343+46C>A)
c.5136+46C>A (n.5136+46C>A)
c.1839+46C>A (n.1839+46C>A)
c.5340+46C>A (n.5340+46C>A)
c.1664+46C>A
c.1851+46C>A (n.1851+46C>A)
c.*5060+46C>A (n.*5060+46C>A)
c.207+46C>A (n.207+46C>A)
c.750+46C>A (n.750+46C>A)
c.-98-6816C>A (n.-98-6816C>A)
n.5413+46C>A
n.5454+46C>A
 dbSNP gnomAD v4
17g.43057007A>GCA2733912696BRCA1c.5274+45T>C (n.5274+45T>C)
c.5277+45T>C (n.5277+45T>C)
c.5151+45T>C (n.5151+45T>C)
c.5271+45T>C (n.5271+45T>C)
c.5199+45T>C (n.5199+45T>C)
c.1965+45T>C (n.1965+45T>C)
c.1827+45T>C (n.1827+45T>C)
c.4389+45T>C (n.4389+45T>C)
c.5154+45T>C (n.5154+45T>C)
c.5343+45T>C (n.5343+45T>C)
c.5136+45T>C (n.5136+45T>C)
c.1839+45T>C (n.1839+45T>C)
c.5340+45T>C (n.5340+45T>C)
c.1664+45T>C
c.1851+45T>C (n.1851+45T>C)
c.*5060+45T>C (n.*5060+45T>C)
c.207+45T>C (n.207+45T>C)
c.750+45T>C (n.750+45T>C)
c.-98-6817T>C (n.-98-6817T>C)
n.5413+45T>C
n.5454+45T>C
 dbSNP
17g.43057007A>TCA2733912697BRCA1c.5274+45T>A (n.5274+45T>A)
c.5277+45T>A (n.5277+45T>A)
c.5151+45T>A (n.5151+45T>A)
c.5271+45T>A (n.5271+45T>A)
c.5199+45T>A (n.5199+45T>A)
c.1965+45T>A (n.1965+45T>A)
c.1827+45T>A (n.1827+45T>A)
c.4389+45T>A (n.4389+45T>A)
c.5154+45T>A (n.5154+45T>A)
c.5343+45T>A (n.5343+45T>A)
c.5136+45T>A (n.5136+45T>A)
c.1839+45T>A (n.1839+45T>A)
c.5340+45T>A (n.5340+45T>A)
c.1664+45T>A
c.1851+45T>A (n.1851+45T>A)
c.*5060+45T>A (n.*5060+45T>A)
c.207+45T>A (n.207+45T>A)
c.750+45T>A (n.750+45T>A)
c.-98-6817T>A (n.-98-6817T>A)
n.5413+45T>A
n.5454+45T>A
 dbSNP
17g.43057008G>ACA2260766324BRCA1c.5274+44C>T (n.5274+44C>T)
c.5277+44C>T (n.5277+44C>T)
c.5151+44C>T (n.5151+44C>T)
c.5271+44C>T (n.5271+44C>T)
c.5199+44C>T (n.5199+44C>T)
c.1965+44C>T (n.1965+44C>T)
c.1827+44C>T (n.1827+44C>T)
c.4389+44C>T (n.4389+44C>T)
c.5154+44C>T (n.5154+44C>T)
c.5343+44C>T (n.5343+44C>T)
c.5136+44C>T (n.5136+44C>T)
c.1839+44C>T (n.1839+44C>T)
c.5340+44C>T (n.5340+44C>T)
c.1664+44C>T
c.1851+44C>T (n.1851+44C>T)
c.*5060+44C>T (n.*5060+44C>T)
c.207+44C>T (n.207+44C>T)
c.750+44C>T (n.750+44C>T)
c.-98-6818C>T (n.-98-6818C>T)
n.5413+44C>T
n.5454+44C>T
 dbSNP gnomAD v4
17g.43057008G>CCA2638061216BRCA1c.5274+44C>G (n.5274+44C>G)
c.5277+44C>G (n.5277+44C>G)
c.5151+44C>G (n.5151+44C>G)
c.5271+44C>G (n.5271+44C>G)
c.5199+44C>G (n.5199+44C>G)
c.1965+44C>G (n.1965+44C>G)
c.1827+44C>G (n.1827+44C>G)
c.4389+44C>G (n.4389+44C>G)
c.5154+44C>G (n.5154+44C>G)
c.5343+44C>G (n.5343+44C>G)
c.5136+44C>G (n.5136+44C>G)
c.1839+44C>G (n.1839+44C>G)
c.5340+44C>G (n.5340+44C>G)
c.1664+44C>G
c.1851+44C>G (n.1851+44C>G)
c.*5060+44C>G (n.*5060+44C>G)
c.207+44C>G (n.207+44C>G)
c.750+44C>G (n.750+44C>G)
c.-98-6818C>G (n.-98-6818C>G)
n.5413+44C>G
n.5454+44C>G
 dbSNP gnomAD v4
17g.43057008G=CA2260766323BRCA1c.5274+44C= (n.5274+44C=)
c.5277+44C= (n.5277+44C=)
c.5151+44C= (n.5151+44C=)
c.5271+44C= (n.5271+44C=)
c.5199+44C= (n.5199+44C=)
c.1965+44C= (n.1965+44C=)
c.1827+44C= (n.1827+44C=)
c.4389+44C= (n.4389+44C=)
c.5154+44C= (n.5154+44C=)
c.5343+44C= (n.5343+44C=)
c.5136+44C= (n.5136+44C=)
c.1839+44C= (n.1839+44C=)
c.5340+44C= (n.5340+44C=)
c.1664+44C=
c.1851+44C= (n.1851+44C=)
c.*5060+44C= (n.*5060+44C=)
c.207+44C= (n.207+44C=)
c.750+44C= (n.750+44C=)
c.-98-6818C= (n.-98-6818C=)
n.5413+44C=
n.5454+44C=
17g.43057008G>TCA2638061215BRCA1c.5274+44C>A (n.5274+44C>A)
c.5277+44C>A (n.5277+44C>A)
c.5151+44C>A (n.5151+44C>A)
c.5271+44C>A (n.5271+44C>A)
c.5199+44C>A (n.5199+44C>A)
c.1965+44C>A (n.1965+44C>A)
c.1827+44C>A (n.1827+44C>A)
c.4389+44C>A (n.4389+44C>A)
c.5154+44C>A (n.5154+44C>A)
c.5343+44C>A (n.5343+44C>A)
c.5136+44C>A (n.5136+44C>A)
c.1839+44C>A (n.1839+44C>A)
c.5340+44C>A (n.5340+44C>A)
c.1664+44C>A
c.1851+44C>A (n.1851+44C>A)
c.*5060+44C>A (n.*5060+44C>A)
c.207+44C>A (n.207+44C>A)
c.750+44C>A (n.750+44C>A)
c.-98-6818C>A (n.-98-6818C>A)
n.5413+44C>A
n.5454+44C>A
 gnomAD v4
17g.43057009T>ACA2638061217BRCA1c.5274+43A>T (n.5274+43A>T)
c.5277+43A>T (n.5277+43A>T)
c.5151+43A>T (n.5151+43A>T)
c.5271+43A>T (n.5271+43A>T)
c.5199+43A>T (n.5199+43A>T)
c.1965+43A>T (n.1965+43A>T)
c.1827+43A>T (n.1827+43A>T)
c.4389+43A>T (n.4389+43A>T)
c.5154+43A>T (n.5154+43A>T)
c.5343+43A>T (n.5343+43A>T)
c.5136+43A>T (n.5136+43A>T)
c.1839+43A>T (n.1839+43A>T)
c.5340+43A>T (n.5340+43A>T)
c.1664+43A>T
c.1851+43A>T (n.1851+43A>T)
c.*5060+43A>T (n.*5060+43A>T)
c.207+43A>T (n.207+43A>T)
c.750+43A>T (n.750+43A>T)
c.-98-6819A>T (n.-98-6819A>T)
n.5413+43A>T
n.5454+43A>T
 gnomAD v4
17g.43057009T>CCA626078959BRCA1c.5274+43A>G (n.5274+43A>G)
c.5277+43A>G (n.5277+43A>G)
c.5151+43A>G (n.5151+43A>G)
c.5271+43A>G (n.5271+43A>G)
c.5199+43A>G (n.5199+43A>G)
c.1965+43A>G (n.1965+43A>G)
c.1827+43A>G (n.1827+43A>G)
c.4389+43A>G (n.4389+43A>G)
c.5154+43A>G (n.5154+43A>G)
c.5343+43A>G (n.5343+43A>G)
c.5136+43A>G (n.5136+43A>G)
c.1839+43A>G (n.1839+43A>G)
c.5340+43A>G (n.5340+43A>G)
c.1664+43A>G
c.1851+43A>G (n.1851+43A>G)
c.*5060+43A>G (n.*5060+43A>G)
c.207+43A>G (n.207+43A>G)
c.750+43A>G (n.750+43A>G)
c.-98-6819A>G (n.-98-6819A>G)
n.5413+43A>G
n.5454+43A>G
 dbSNP gnomAD v2 gnomAD v4
17g.43057009T>GCA054343BRCA1c.5274+43A>C (n.5274+43A>C)
c.5277+43A>C (n.5277+43A>C)
c.5151+43A>C (n.5151+43A>C)
c.5271+43A>C (n.5271+43A>C)
c.5199+43A>C (n.5199+43A>C)
c.1965+43A>C (n.1965+43A>C)
c.1827+43A>C (n.1827+43A>C)
c.4389+43A>C (n.4389+43A>C)
c.5154+43A>C (n.5154+43A>C)
c.5343+43A>C (n.5343+43A>C)
c.5136+43A>C (n.5136+43A>C)
c.1839+43A>C (n.1839+43A>C)
c.5340+43A>C (n.5340+43A>C)
c.1664+43A>C
c.1851+43A>C (n.1851+43A>C)
c.*5060+43A>C (n.*5060+43A>C)
c.207+43A>C (n.207+43A>C)
c.750+43A>C (n.750+43A>C)
c.-98-6819A>C (n.-98-6819A>C)
n.5413+43A>C
n.5454+43A>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.43057009T=CA2260766325BRCA1c.5274+43A= (n.5274+43A=)
c.5277+43A= (n.5277+43A=)
c.5151+43A= (n.5151+43A=)
c.5271+43A= (n.5271+43A=)
c.5199+43A= (n.5199+43A=)
c.1965+43A= (n.1965+43A=)
c.1827+43A= (n.1827+43A=)
c.4389+43A= (n.4389+43A=)
c.5154+43A= (n.5154+43A=)
c.5343+43A= (n.5343+43A=)
c.5136+43A= (n.5136+43A=)
c.1839+43A= (n.1839+43A=)
c.5340+43A= (n.5340+43A=)
c.1664+43A=
c.1851+43A= (n.1851+43A=)
c.*5060+43A= (n.*5060+43A=)
c.207+43A= (n.207+43A=)
c.750+43A= (n.750+43A=)
c.-98-6819A= (n.-98-6819A=)
n.5413+43A=
n.5454+43A=
17g.43057010G>ACA2733644501BRCA1c.5274+42C>T (n.5274+42C>T)
c.5277+42C>T (n.5277+42C>T)
c.5151+42C>T (n.5151+42C>T)
c.5271+42C>T (n.5271+42C>T)
c.5199+42C>T (n.5199+42C>T)
c.1965+42C>T (n.1965+42C>T)
c.1827+42C>T (n.1827+42C>T)
c.4389+42C>T (n.4389+42C>T)
c.5154+42C>T (n.5154+42C>T)
c.5343+42C>T (n.5343+42C>T)
c.5136+42C>T (n.5136+42C>T)
c.1839+42C>T (n.1839+42C>T)
c.5340+42C>T (n.5340+42C>T)
c.1664+42C>T
c.1851+42C>T (n.1851+42C>T)
c.*5060+42C>T (n.*5060+42C>T)
c.207+42C>T (n.207+42C>T)
c.750+42C>T (n.750+42C>T)
c.-98-6820C>T (n.-98-6820C>T)
n.5413+42C>T
n.5454+42C>T
 dbSNP
17g.43057010G>CCA2638061218BRCA1c.5274+42C>G (n.5274+42C>G)
c.5277+42C>G (n.5277+42C>G)
c.5151+42C>G (n.5151+42C>G)
c.5271+42C>G (n.5271+42C>G)
c.5199+42C>G (n.5199+42C>G)
c.1965+42C>G (n.1965+42C>G)
c.1827+42C>G (n.1827+42C>G)
c.4389+42C>G (n.4389+42C>G)
c.5154+42C>G (n.5154+42C>G)
c.5343+42C>G (n.5343+42C>G)
c.5136+42C>G (n.5136+42C>G)
c.1839+42C>G (n.1839+42C>G)
c.5340+42C>G (n.5340+42C>G)
c.1664+42C>G
c.1851+42C>G (n.1851+42C>G)
c.*5060+42C>G (n.*5060+42C>G)
c.207+42C>G (n.207+42C>G)
c.750+42C>G (n.750+42C>G)
c.-98-6820C>G (n.-98-6820C>G)
n.5413+42C>G
n.5454+42C>G
 dbSNP gnomAD v4
17g.43057010G=CA2260766326BRCA1c.5274+42C= (n.5274+42C=)
c.5277+42C= (n.5277+42C=)
c.5151+42C= (n.5151+42C=)
c.5271+42C= (n.5271+42C=)
c.5199+42C= (n.5199+42C=)
c.1965+42C= (n.1965+42C=)
c.1827+42C= (n.1827+42C=)
c.4389+42C= (n.4389+42C=)
c.5154+42C= (n.5154+42C=)
c.5343+42C= (n.5343+42C=)
c.5136+42C= (n.5136+42C=)
c.1839+42C= (n.1839+42C=)
c.5340+42C= (n.5340+42C=)
c.1664+42C=
c.1851+42C= (n.1851+42C=)
c.*5060+42C= (n.*5060+42C=)
c.207+42C= (n.207+42C=)
c.750+42C= (n.750+42C=)
c.-98-6820C= (n.-98-6820C=)
n.5413+42C=
n.5454+42C=
17g.43057010G>TCA054340BRCA1c.5274+42C>A (n.5274+42C>A)
c.5277+42C>A (n.5277+42C>A)
c.5151+42C>A (n.5151+42C>A)
c.5271+42C>A (n.5271+42C>A)
c.5199+42C>A (n.5199+42C>A)
c.1965+42C>A (n.1965+42C>A)
c.1827+42C>A (n.1827+42C>A)
c.4389+42C>A (n.4389+42C>A)
c.5154+42C>A (n.5154+42C>A)
c.5343+42C>A (n.5343+42C>A)
c.5136+42C>A (n.5136+42C>A)
c.1839+42C>A (n.1839+42C>A)
c.5340+42C>A (n.5340+42C>A)
c.1664+42C>A
c.1851+42C>A (n.1851+42C>A)
c.*5060+42C>A (n.*5060+42C>A)
c.207+42C>A (n.207+42C>A)
c.750+42C>A (n.750+42C>A)
c.-98-6820C>A (n.-98-6820C>A)
n.5413+42C>A
n.5454+42C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.43057011G>ACA2733912698BRCA1c.5274+41C>T (n.5274+41C>T)
c.5277+41C>T (n.5277+41C>T)
c.5151+41C>T (n.5151+41C>T)
c.5271+41C>T (n.5271+41C>T)
c.5199+41C>T (n.5199+41C>T)
c.1965+41C>T (n.1965+41C>T)
c.1827+41C>T (n.1827+41C>T)
c.4389+41C>T (n.4389+41C>T)
c.5154+41C>T (n.5154+41C>T)
c.5343+41C>T (n.5343+41C>T)
c.5136+41C>T (n.5136+41C>T)
c.1839+41C>T (n.1839+41C>T)
c.5340+41C>T (n.5340+41C>T)
c.1664+41C>T
c.1851+41C>T (n.1851+41C>T)
c.*5060+41C>T (n.*5060+41C>T)
c.207+41C>T (n.207+41C>T)
c.750+41C>T (n.750+41C>T)
c.-98-6821C>T (n.-98-6821C>T)
n.5413+41C>T
n.5454+41C>T
 dbSNP
17g.43057011G>CCA2733912709BRCA1c.5274+41C>G (n.5274+41C>G)
c.5277+41C>G (n.5277+41C>G)
c.5151+41C>G (n.5151+41C>G)
c.5271+41C>G (n.5271+41C>G)
c.5199+41C>G (n.5199+41C>G)
c.1965+41C>G (n.1965+41C>G)
c.1827+41C>G (n.1827+41C>G)
c.4389+41C>G (n.4389+41C>G)
c.5154+41C>G (n.5154+41C>G)
c.5343+41C>G (n.5343+41C>G)
c.5136+41C>G (n.5136+41C>G)
c.1839+41C>G (n.1839+41C>G)
c.5340+41C>G (n.5340+41C>G)
c.1664+41C>G
c.1851+41C>G (n.1851+41C>G)
c.*5060+41C>G (n.*5060+41C>G)
c.207+41C>G (n.207+41C>G)
c.750+41C>G (n.750+41C>G)
c.-98-6821C>G (n.-98-6821C>G)
n.5413+41C>G
n.5454+41C>G
 dbSNP
17g.43057011G>TCA2638061220BRCA1c.5274+41C>A (n.5274+41C>A)
c.5277+41C>A (n.5277+41C>A)
c.5151+41C>A (n.5151+41C>A)
c.5271+41C>A (n.5271+41C>A)
c.5199+41C>A (n.5199+41C>A)
c.1965+41C>A (n.1965+41C>A)
c.1827+41C>A (n.1827+41C>A)
c.4389+41C>A (n.4389+41C>A)
c.5154+41C>A (n.5154+41C>A)
c.5343+41C>A (n.5343+41C>A)
c.5136+41C>A (n.5136+41C>A)
c.1839+41C>A (n.1839+41C>A)
c.5340+41C>A (n.5340+41C>A)
c.1664+41C>A
c.1851+41C>A (n.1851+41C>A)
c.*5060+41C>A (n.*5060+41C>A)
c.207+41C>A (n.207+41C>A)
c.750+41C>A (n.750+41C>A)
c.-98-6821C>A (n.-98-6821C>A)
n.5413+41C>A
n.5454+41C>A
 gnomAD v4
17g.43057013G>ACA054337BRCA1c.5274+39C>T (n.5274+39C>T)
c.5277+39C>T (n.5277+39C>T)
c.5151+39C>T (n.5151+39C>T)
c.5271+39C>T (n.5271+39C>T)
c.5199+39C>T (n.5199+39C>T)
c.1965+39C>T (n.1965+39C>T)
c.1827+39C>T (n.1827+39C>T)
c.4389+39C>T (n.4389+39C>T)
c.5154+39C>T (n.5154+39C>T)
c.5343+39C>T (n.5343+39C>T)
c.5136+39C>T (n.5136+39C>T)
c.1839+39C>T (n.1839+39C>T)
c.5340+39C>T (n.5340+39C>T)
c.1664+39C>T
c.1851+39C>T (n.1851+39C>T)
c.*5060+39C>T (n.*5060+39C>T)
c.207+39C>T (n.207+39C>T)
c.750+39C>T (n.750+39C>T)
c.-98-6823C>T (n.-98-6823C>T)
n.5413+39C>T
n.5454+39C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.43057013G>CCA2733647021BRCA1c.5274+39C>G (n.5274+39C>G)
c.5277+39C>G (n.5277+39C>G)
c.5151+39C>G (n.5151+39C>G)
c.5271+39C>G (n.5271+39C>G)
c.5199+39C>G (n.5199+39C>G)
c.1965+39C>G (n.1965+39C>G)
c.1827+39C>G (n.1827+39C>G)
c.4389+39C>G (n.4389+39C>G)
c.5154+39C>G (n.5154+39C>G)
c.5343+39C>G (n.5343+39C>G)
c.5136+39C>G (n.5136+39C>G)
c.1839+39C>G (n.1839+39C>G)
c.5340+39C>G (n.5340+39C>G)
c.1664+39C>G
c.1851+39C>G (n.1851+39C>G)
c.*5060+39C>G (n.*5060+39C>G)
c.207+39C>G (n.207+39C>G)
c.750+39C>G (n.750+39C>G)
c.-98-6823C>G (n.-98-6823C>G)
n.5413+39C>G
n.5454+39C>G
 dbSNP
17g.43057013G=CA2260766327BRCA1c.5274+39C= (n.5274+39C=)
c.5277+39C= (n.5277+39C=)
c.5151+39C= (n.5151+39C=)
c.5271+39C= (n.5271+39C=)
c.5199+39C= (n.5199+39C=)
c.1965+39C= (n.1965+39C=)
c.1827+39C= (n.1827+39C=)
c.4389+39C= (n.4389+39C=)
c.5154+39C= (n.5154+39C=)
c.5343+39C= (n.5343+39C=)
c.5136+39C= (n.5136+39C=)
c.1839+39C= (n.1839+39C=)
c.5340+39C= (n.5340+39C=)
c.1664+39C=
c.1851+39C= (n.1851+39C=)
c.*5060+39C= (n.*5060+39C=)
c.207+39C= (n.207+39C=)
c.750+39C= (n.750+39C=)
c.-98-6823C= (n.-98-6823C=)
n.5413+39C=
n.5454+39C=
17g.43057014G>TCA2576282065BRCA1c.5274+38C>A (n.5274+38C>A)
c.5277+38C>A (n.5277+38C>A)
c.5151+38C>A (n.5151+38C>A)
c.5271+38C>A (n.5271+38C>A)
c.5199+38C>A (n.5199+38C>A)
c.1965+38C>A (n.1965+38C>A)
c.1827+38C>A (n.1827+38C>A)
c.4389+38C>A (n.4389+38C>A)
c.5154+38C>A (n.5154+38C>A)
c.5343+38C>A (n.5343+38C>A)
c.5136+38C>A (n.5136+38C>A)
c.1839+38C>A (n.1839+38C>A)
c.5340+38C>A (n.5340+38C>A)
c.1664+38C>A
c.1851+38C>A (n.1851+38C>A)
c.*5060+38C>A (n.*5060+38C>A)
c.207+38C>A (n.207+38C>A)
c.750+38C>A (n.750+38C>A)
c.-98-6824C>A (n.-98-6824C>A)
n.5413+38C>A
n.5454+38C>A
 gnomAD v4
17g.43057015G>ACA2260766328BRCA1c.5274+37C>T (n.5274+37C>T)
c.5277+37C>T (n.5277+37C>T)
c.5151+37C>T (n.5151+37C>T)
c.5271+37C>T (n.5271+37C>T)
c.5199+37C>T (n.5199+37C>T)
c.1965+37C>T (n.1965+37C>T)
c.1827+37C>T (n.1827+37C>T)
c.4389+37C>T (n.4389+37C>T)
c.5154+37C>T (n.5154+37C>T)
c.5343+37C>T (n.5343+37C>T)
c.5136+37C>T (n.5136+37C>T)
c.1839+37C>T (n.1839+37C>T)
c.5340+37C>T (n.5340+37C>T)
c.1664+37C>T
c.1851+37C>T (n.1851+37C>T)
c.*5060+37C>T (n.*5060+37C>T)
c.207+37C>T (n.207+37C>T)
c.750+37C>T (n.750+37C>T)
c.-98-6825C>T (n.-98-6825C>T)
n.5413+37C>T
n.5454+37C>T
 dbSNP gnomAD v4
17g.43057015G>CCA2733676579BRCA1c.5274+37C>G (n.5274+37C>G)
c.5277+37C>G (n.5277+37C>G)
c.5151+37C>G (n.5151+37C>G)
c.5271+37C>G (n.5271+37C>G)
c.5199+37C>G (n.5199+37C>G)
c.1965+37C>G (n.1965+37C>G)
c.1827+37C>G (n.1827+37C>G)
c.4389+37C>G (n.4389+37C>G)
c.5154+37C>G (n.5154+37C>G)
c.5343+37C>G (n.5343+37C>G)
c.5136+37C>G (n.5136+37C>G)
c.1839+37C>G (n.1839+37C>G)
c.5340+37C>G (n.5340+37C>G)
c.1664+37C>G
c.1851+37C>G (n.1851+37C>G)
c.*5060+37C>G (n.*5060+37C>G)
c.207+37C>G (n.207+37C>G)
c.750+37C>G (n.750+37C>G)
c.-98-6825C>G (n.-98-6825C>G)
n.5413+37C>G
n.5454+37C>G
 dbSNP
17g.43057015G=CA2260766329BRCA1c.5274+37C= (n.5274+37C=)
c.5277+37C= (n.5277+37C=)
c.5151+37C= (n.5151+37C=)
c.5271+37C= (n.5271+37C=)
c.5199+37C= (n.5199+37C=)
c.1965+37C= (n.1965+37C=)
c.1827+37C= (n.1827+37C=)
c.4389+37C= (n.4389+37C=)
c.5154+37C= (n.5154+37C=)
c.5343+37C= (n.5343+37C=)
c.5136+37C= (n.5136+37C=)
c.1839+37C= (n.1839+37C=)
c.5340+37C= (n.5340+37C=)
c.1664+37C=
c.1851+37C= (n.1851+37C=)
c.*5060+37C= (n.*5060+37C=)
c.207+37C= (n.207+37C=)
c.750+37C= (n.750+37C=)
c.-98-6825C= (n.-98-6825C=)
n.5413+37C=
n.5454+37C=
17g.43057015G>TCA2733676580BRCA1c.5274+37C>A (n.5274+37C>A)
c.5277+37C>A (n.5277+37C>A)
c.5151+37C>A (n.5151+37C>A)
c.5271+37C>A (n.5271+37C>A)
c.5199+37C>A (n.5199+37C>A)
c.1965+37C>A (n.1965+37C>A)
c.1827+37C>A (n.1827+37C>A)
c.4389+37C>A (n.4389+37C>A)
c.5154+37C>A (n.5154+37C>A)
c.5343+37C>A (n.5343+37C>A)
c.5136+37C>A (n.5136+37C>A)
c.1839+37C>A (n.1839+37C>A)
c.5340+37C>A (n.5340+37C>A)
c.1664+37C>A
c.1851+37C>A (n.1851+37C>A)
c.*5060+37C>A (n.*5060+37C>A)
c.207+37C>A (n.207+37C>A)
c.750+37C>A (n.750+37C>A)
c.-98-6825C>A (n.-98-6825C>A)
n.5413+37C>A
n.5454+37C>A
 dbSNP
17g.43057016G>ACA2733912714BRCA1c.5274+36C>T (n.5274+36C>T)
c.5277+36C>T (n.5277+36C>T)
c.5151+36C>T (n.5151+36C>T)
c.5271+36C>T (n.5271+36C>T)
c.5199+36C>T (n.5199+36C>T)
c.1965+36C>T (n.1965+36C>T)
c.1827+36C>T (n.1827+36C>T)
c.4389+36C>T (n.4389+36C>T)
c.5154+36C>T (n.5154+36C>T)
c.5343+36C>T (n.5343+36C>T)
c.5136+36C>T (n.5136+36C>T)
c.1839+36C>T (n.1839+36C>T)
c.5340+36C>T (n.5340+36C>T)
c.1664+36C>T
c.1851+36C>T (n.1851+36C>T)
c.*5060+36C>T (n.*5060+36C>T)
c.207+36C>T (n.207+36C>T)
c.750+36C>T (n.750+36C>T)
c.-98-6826C>T (n.-98-6826C>T)
n.5413+36C>T
n.5454+36C>T
 dbSNP
17g.43057016G>CCA2733912775BRCA1c.5274+36C>G (n.5274+36C>G)
c.5277+36C>G (n.5277+36C>G)
c.5151+36C>G (n.5151+36C>G)
c.5271+36C>G (n.5271+36C>G)
c.5199+36C>G (n.5199+36C>G)
c.1965+36C>G (n.1965+36C>G)
c.1827+36C>G (n.1827+36C>G)
c.4389+36C>G (n.4389+36C>G)
c.5154+36C>G (n.5154+36C>G)
c.5343+36C>G (n.5343+36C>G)
c.5136+36C>G (n.5136+36C>G)
c.1839+36C>G (n.1839+36C>G)
c.5340+36C>G (n.5340+36C>G)
c.1664+36C>G
c.1851+36C>G (n.1851+36C>G)
c.*5060+36C>G (n.*5060+36C>G)
c.207+36C>G (n.207+36C>G)
c.750+36C>G (n.750+36C>G)
c.-98-6826C>G (n.-98-6826C>G)
n.5413+36C>G
n.5454+36C>G
 dbSNP
17g.43057016G>TCA2733912797BRCA1c.5274+36C>A (n.5274+36C>A)
c.5277+36C>A (n.5277+36C>A)
c.5151+36C>A (n.5151+36C>A)
c.5271+36C>A (n.5271+36C>A)
c.5199+36C>A (n.5199+36C>A)
c.1965+36C>A (n.1965+36C>A)
c.1827+36C>A (n.1827+36C>A)
c.4389+36C>A (n.4389+36C>A)
c.5154+36C>A (n.5154+36C>A)
c.5343+36C>A (n.5343+36C>A)
c.5136+36C>A (n.5136+36C>A)
c.1839+36C>A (n.1839+36C>A)
c.5340+36C>A (n.5340+36C>A)
c.1664+36C>A
c.1851+36C>A (n.1851+36C>A)
c.*5060+36C>A (n.*5060+36C>A)
c.207+36C>A (n.207+36C>A)
c.750+36C>A (n.750+36C>A)
c.-98-6826C>A (n.-98-6826C>A)
n.5413+36C>A
n.5454+36C>A
 dbSNP
17g.43057017delCA656358854BRCA1c.5274+35del (n.5274+35del)
c.5277+35del (n.5277+35del)
c.5151+35del (n.5151+35del)
c.5271+35del (n.5271+35del)
c.5199+35del (n.5199+35del)
c.1965+35del (n.1965+35del)
c.1827+35del (n.1827+35del)
c.4389+35del (n.4389+35del)
c.5154+35del (n.5154+35del)
c.5343+35del (n.5343+35del)
c.5136+35del (n.5136+35del)
c.1839+35del (n.1839+35del)
c.5340+35del (n.5340+35del)
c.1664+35del
c.1851+35del (n.1851+35del)
c.*5060+35del (n.*5060+35del)
c.207+35del (n.207+35del)
c.750+35del (n.750+35del)
c.-98-6827del (n.-98-6827del)
n.5413+35del
n.5454+35del
 COSMIC COSMIC
17g.43057017T>ACA2733647023BRCA1c.5274+35A>T (n.5274+35A>T)
c.5277+35A>T (n.5277+35A>T)
c.5151+35A>T (n.5151+35A>T)
c.5271+35A>T (n.5271+35A>T)
c.5199+35A>T (n.5199+35A>T)
c.1965+35A>T (n.1965+35A>T)
c.1827+35A>T (n.1827+35A>T)
c.4389+35A>T (n.4389+35A>T)
c.5154+35A>T (n.5154+35A>T)
c.5343+35A>T (n.5343+35A>T)
c.5136+35A>T (n.5136+35A>T)
c.1839+35A>T (n.1839+35A>T)
c.5340+35A>T (n.5340+35A>T)
c.1664+35A>T
c.1851+35A>T (n.1851+35A>T)
c.*5060+35A>T (n.*5060+35A>T)
c.207+35A>T (n.207+35A>T)
c.750+35A>T (n.750+35A>T)
c.-98-6827A>T (n.-98-6827A>T)
n.5413+35A>T
n.5454+35A>T
 dbSNP
17g.43057017T>CCA2733647022BRCA1c.5274+35A>G (n.5274+35A>G)
c.5277+35A>G (n.5277+35A>G)
c.5151+35A>G (n.5151+35A>G)
c.5271+35A>G (n.5271+35A>G)
c.5199+35A>G (n.5199+35A>G)
c.1965+35A>G (n.1965+35A>G)
c.1827+35A>G (n.1827+35A>G)
c.4389+35A>G (n.4389+35A>G)
c.5154+35A>G (n.5154+35A>G)
c.5343+35A>G (n.5343+35A>G)
c.5136+35A>G (n.5136+35A>G)
c.1839+35A>G (n.1839+35A>G)
c.5340+35A>G (n.5340+35A>G)
c.1664+35A>G
c.1851+35A>G (n.1851+35A>G)
c.*5060+35A>G (n.*5060+35A>G)
c.207+35A>G (n.207+35A>G)
c.750+35A>G (n.750+35A>G)
c.-98-6827A>G (n.-98-6827A>G)
n.5413+35A>G
n.5454+35A>G
 dbSNP
17g.43057017T>GCA054333BRCA1c.5274+35A>C (n.5274+35A>C)
c.5277+35A>C (n.5277+35A>C)
c.5151+35A>C (n.5151+35A>C)
c.5271+35A>C (n.5271+35A>C)
c.5199+35A>C (n.5199+35A>C)
c.1965+35A>C (n.1965+35A>C)
c.1827+35A>C (n.1827+35A>C)
c.4389+35A>C (n.4389+35A>C)
c.5154+35A>C (n.5154+35A>C)
c.5343+35A>C (n.5343+35A>C)
c.5136+35A>C (n.5136+35A>C)
c.1839+35A>C (n.1839+35A>C)
c.5340+35A>C (n.5340+35A>C)
c.1664+35A>C
c.1851+35A>C (n.1851+35A>C)
c.*5060+35A>C (n.*5060+35A>C)
c.207+35A>C (n.207+35A>C)
c.750+35A>C (n.750+35A>C)
c.-98-6827A>C (n.-98-6827A>C)
n.5413+35A>C
n.5454+35A>C
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.43057017T=CA2260766330BRCA1c.5274+35A= (n.5274+35A=)
c.5277+35A= (n.5277+35A=)
c.5151+35A= (n.5151+35A=)
c.5271+35A= (n.5271+35A=)
c.5199+35A= (n.5199+35A=)
c.1965+35A= (n.1965+35A=)
c.1827+35A= (n.1827+35A=)
c.4389+35A= (n.4389+35A=)
c.5154+35A= (n.5154+35A=)
c.5343+35A= (n.5343+35A=)
c.5136+35A= (n.5136+35A=)
c.1839+35A= (n.1839+35A=)
c.5340+35A= (n.5340+35A=)
c.1664+35A=
c.1851+35A= (n.1851+35A=)
c.*5060+35A= (n.*5060+35A=)
c.207+35A= (n.207+35A=)
c.750+35A= (n.750+35A=)
c.-98-6827A= (n.-98-6827A=)
n.5413+35A=
n.5454+35A=
17g.43057018G>ACA2260766332BRCA1c.5274+34C>T (n.5274+34C>T)
c.5277+34C>T (n.5277+34C>T)
c.5151+34C>T (n.5151+34C>T)
c.5271+34C>T (n.5271+34C>T)
c.5199+34C>T (n.5199+34C>T)
c.1965+34C>T (n.1965+34C>T)
c.1827+34C>T (n.1827+34C>T)
c.4389+34C>T (n.4389+34C>T)
c.5154+34C>T (n.5154+34C>T)
c.5343+34C>T (n.5343+34C>T)
c.5136+34C>T (n.5136+34C>T)
c.1839+34C>T (n.1839+34C>T)
c.5340+34C>T (n.5340+34C>T)
c.1664+34C>T
c.1851+34C>T (n.1851+34C>T)
c.*5060+34C>T (n.*5060+34C>T)
c.207+34C>T (n.207+34C>T)
c.750+34C>T (n.750+34C>T)
c.-98-6828C>T (n.-98-6828C>T)
n.5413+34C>T
n.5454+34C>T
 dbSNP
17g.43057018G>CCA2733692433BRCA1c.5274+34C>G (n.5274+34C>G)
c.5277+34C>G (n.5277+34C>G)
c.5151+34C>G (n.5151+34C>G)
c.5271+34C>G (n.5271+34C>G)
c.5199+34C>G (n.5199+34C>G)
c.1965+34C>G (n.1965+34C>G)
c.1827+34C>G (n.1827+34C>G)
c.4389+34C>G (n.4389+34C>G)
c.5154+34C>G (n.5154+34C>G)
c.5343+34C>G (n.5343+34C>G)
c.5136+34C>G (n.5136+34C>G)
c.1839+34C>G (n.1839+34C>G)
c.5340+34C>G (n.5340+34C>G)
c.1664+34C>G
c.1851+34C>G (n.1851+34C>G)
c.*5060+34C>G (n.*5060+34C>G)
c.207+34C>G (n.207+34C>G)
c.750+34C>G (n.750+34C>G)
c.-98-6828C>G (n.-98-6828C>G)
n.5413+34C>G
n.5454+34C>G
 dbSNP
17g.43057018G=CA2260766331BRCA1c.5274+34C= (n.5274+34C=)
c.5277+34C= (n.5277+34C=)
c.5151+34C= (n.5151+34C=)
c.5271+34C= (n.5271+34C=)
c.5199+34C= (n.5199+34C=)
c.1965+34C= (n.1965+34C=)
c.1827+34C= (n.1827+34C=)
c.4389+34C= (n.4389+34C=)
c.5154+34C= (n.5154+34C=)
c.5343+34C= (n.5343+34C=)
c.5136+34C= (n.5136+34C=)
c.1839+34C= (n.1839+34C=)
c.5340+34C= (n.5340+34C=)
c.1664+34C=
c.1851+34C= (n.1851+34C=)
c.*5060+34C= (n.*5060+34C=)
c.207+34C= (n.207+34C=)
c.750+34C= (n.750+34C=)
c.-98-6828C= (n.-98-6828C=)
n.5413+34C=
n.5454+34C=
17g.43057018G>TCA2638061221BRCA1c.5274+34C>A (n.5274+34C>A)
c.5277+34C>A (n.5277+34C>A)
c.5151+34C>A (n.5151+34C>A)
c.5271+34C>A (n.5271+34C>A)
c.5199+34C>A (n.5199+34C>A)
c.1965+34C>A (n.1965+34C>A)
c.1827+34C>A (n.1827+34C>A)
c.4389+34C>A (n.4389+34C>A)
c.5154+34C>A (n.5154+34C>A)
c.5343+34C>A (n.5343+34C>A)
c.5136+34C>A (n.5136+34C>A)
c.1839+34C>A (n.1839+34C>A)
c.5340+34C>A (n.5340+34C>A)
c.1664+34C>A
c.1851+34C>A (n.1851+34C>A)
c.*5060+34C>A (n.*5060+34C>A)
c.207+34C>A (n.207+34C>A)
c.750+34C>A (n.750+34C>A)
c.-98-6828C>A (n.-98-6828C>A)
n.5413+34C>A
n.5454+34C>A
 gnomAD v4
17g.43057019A>GCA2733912798BRCA1c.5274+33T>C (n.5274+33T>C)
c.5277+33T>C (n.5277+33T>C)
c.5151+33T>C (n.5151+33T>C)
c.5271+33T>C (n.5271+33T>C)
c.5199+33T>C (n.5199+33T>C)
c.1965+33T>C (n.1965+33T>C)
c.1827+33T>C (n.1827+33T>C)
c.4389+33T>C (n.4389+33T>C)
c.5154+33T>C (n.5154+33T>C)
c.5343+33T>C (n.5343+33T>C)
c.5136+33T>C (n.5136+33T>C)
c.1839+33T>C (n.1839+33T>C)
c.5340+33T>C (n.5340+33T>C)
c.1664+33T>C
c.1851+33T>C (n.1851+33T>C)
c.*5060+33T>C (n.*5060+33T>C)
c.207+33T>C (n.207+33T>C)
c.750+33T>C (n.750+33T>C)
c.-98-6829T>C (n.-98-6829T>C)
n.5413+33T>C
n.5454+33T>C
 dbSNP
17g.43057019A>TCA2733912799BRCA1c.5274+33T>A (n.5274+33T>A)
c.5277+33T>A (n.5277+33T>A)
c.5151+33T>A (n.5151+33T>A)
c.5271+33T>A (n.5271+33T>A)
c.5199+33T>A (n.5199+33T>A)
c.1965+33T>A (n.1965+33T>A)
c.1827+33T>A (n.1827+33T>A)
c.4389+33T>A (n.4389+33T>A)
c.5154+33T>A (n.5154+33T>A)
c.5343+33T>A (n.5343+33T>A)
c.5136+33T>A (n.5136+33T>A)
c.1839+33T>A (n.1839+33T>A)
c.5340+33T>A (n.5340+33T>A)
c.1664+33T>A
c.1851+33T>A (n.1851+33T>A)
c.*5060+33T>A (n.*5060+33T>A)
c.207+33T>A (n.207+33T>A)
c.750+33T>A (n.750+33T>A)
c.-98-6829T>A (n.-98-6829T>A)
n.5413+33T>A
n.5454+33T>A
 dbSNP
17g.43057020G>ACA656358855BRCA1c.5274+32C>T (n.5274+32C>T)
c.5277+32C>T (n.5277+32C>T)
c.5151+32C>T (n.5151+32C>T)
c.5271+32C>T (n.5271+32C>T)
c.5199+32C>T (n.5199+32C>T)
c.1965+32C>T (n.1965+32C>T)
c.1827+32C>T (n.1827+32C>T)
c.4389+32C>T (n.4389+32C>T)
c.5154+32C>T (n.5154+32C>T)
c.5343+32C>T (n.5343+32C>T)
c.5136+32C>T (n.5136+32C>T)
c.1839+32C>T (n.1839+32C>T)
c.5340+32C>T (n.5340+32C>T)
c.1664+32C>T
c.1851+32C>T (n.1851+32C>T)
c.*5060+32C>T (n.*5060+32C>T)
c.207+32C>T (n.207+32C>T)
c.750+32C>T (n.750+32C>T)
c.-98-6830C>T (n.-98-6830C>T)
n.5413+32C>T
n.5454+32C>T
 dbSNP COSMIC
17g.43057020G>CCA054325BRCA1c.5274+32C>G (n.5274+32C>G)
c.5277+32C>G (n.5277+32C>G)
c.5151+32C>G (n.5151+32C>G)
c.5271+32C>G (n.5271+32C>G)
c.5199+32C>G (n.5199+32C>G)
c.1965+32C>G (n.1965+32C>G)
c.1827+32C>G (n.1827+32C>G)
c.4389+32C>G (n.4389+32C>G)
c.5154+32C>G (n.5154+32C>G)
c.5343+32C>G (n.5343+32C>G)
c.5136+32C>G (n.5136+32C>G)
c.1839+32C>G (n.1839+32C>G)
c.5340+32C>G (n.5340+32C>G)
c.1664+32C>G
c.1851+32C>G (n.1851+32C>G)
c.*5060+32C>G (n.*5060+32C>G)
c.207+32C>G (n.207+32C>G)
c.750+32C>G (n.750+32C>G)
c.-98-6830C>G (n.-98-6830C>G)
n.5413+32C>G
n.5454+32C>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.43057020G=CA2260766333BRCA1c.5274+32C= (n.5274+32C=)
c.5277+32C= (n.5277+32C=)
c.5151+32C= (n.5151+32C=)
c.5271+32C= (n.5271+32C=)
c.5199+32C= (n.5199+32C=)
c.1965+32C= (n.1965+32C=)
c.1827+32C= (n.1827+32C=)
c.4389+32C= (n.4389+32C=)
c.5154+32C= (n.5154+32C=)
c.5343+32C= (n.5343+32C=)
c.5136+32C= (n.5136+32C=)
c.1839+32C= (n.1839+32C=)
c.5340+32C= (n.5340+32C=)
c.1664+32C=
c.1851+32C= (n.1851+32C=)
c.*5060+32C= (n.*5060+32C=)
c.207+32C= (n.207+32C=)
c.750+32C= (n.750+32C=)
c.-98-6830C= (n.-98-6830C=)
n.5413+32C=
n.5454+32C=
17g.43057020G>TCA2638061223BRCA1c.5274+32C>A (n.5274+32C>A)
c.5277+32C>A (n.5277+32C>A)
c.5151+32C>A (n.5151+32C>A)
c.5271+32C>A (n.5271+32C>A)
c.5199+32C>A (n.5199+32C>A)
c.1965+32C>A (n.1965+32C>A)
c.1827+32C>A (n.1827+32C>A)
c.4389+32C>A (n.4389+32C>A)
c.5154+32C>A (n.5154+32C>A)
c.5343+32C>A (n.5343+32C>A)
c.5136+32C>A (n.5136+32C>A)
c.1839+32C>A (n.1839+32C>A)
c.5340+32C>A (n.5340+32C>A)
c.1664+32C>A
c.1851+32C>A (n.1851+32C>A)
c.*5060+32C>A (n.*5060+32C>A)
c.207+32C>A (n.207+32C>A)
c.750+32C>A (n.750+32C>A)
c.-98-6830C>A (n.-98-6830C>A)
n.5413+32C>A
n.5454+32C>A
 gnomAD v4
17g.43057021A>TCA2733912832BRCA1c.5274+31T>A (n.5274+31T>A)
c.5277+31T>A (n.5277+31T>A)
c.5151+31T>A (n.5151+31T>A)
c.5271+31T>A (n.5271+31T>A)
c.5199+31T>A (n.5199+31T>A)
c.1965+31T>A (n.1965+31T>A)
c.1827+31T>A (n.1827+31T>A)
c.4389+31T>A (n.4389+31T>A)
c.5154+31T>A (n.5154+31T>A)
c.5343+31T>A (n.5343+31T>A)
c.5136+31T>A (n.5136+31T>A)
c.1839+31T>A (n.1839+31T>A)
c.5340+31T>A (n.5340+31T>A)
c.1664+31T>A
c.1851+31T>A (n.1851+31T>A)
c.*5060+31T>A (n.*5060+31T>A)
c.207+31T>A (n.207+31T>A)
c.750+31T>A (n.750+31T>A)
c.-98-6831T>A (n.-98-6831T>A)
n.5413+31T>A
n.5454+31T>A
 dbSNP
17g.43057022T>ACA2733912835BRCA1c.5274+30A>T (n.5274+30A>T)
c.5277+30A>T (n.5277+30A>T)
c.5151+30A>T (n.5151+30A>T)
c.5271+30A>T (n.5271+30A>T)
c.5199+30A>T (n.5199+30A>T)
c.1965+30A>T (n.1965+30A>T)
c.1827+30A>T (n.1827+30A>T)
c.4389+30A>T (n.4389+30A>T)
c.5154+30A>T (n.5154+30A>T)
c.5343+30A>T (n.5343+30A>T)
c.5136+30A>T (n.5136+30A>T)
c.1839+30A>T (n.1839+30A>T)
c.5340+30A>T (n.5340+30A>T)
c.1664+30A>T
c.1851+30A>T (n.1851+30A>T)
c.*5060+30A>T (n.*5060+30A>T)
c.207+30A>T (n.207+30A>T)
c.750+30A>T (n.750+30A>T)
c.-98-6832A>T (n.-98-6832A>T)
n.5413+30A>T
n.5454+30A>T
 dbSNP
17g.43057022T>GCA2733912837BRCA1c.5274+30A>C (n.5274+30A>C)
c.5277+30A>C (n.5277+30A>C)
c.5151+30A>C (n.5151+30A>C)
c.5271+30A>C (n.5271+30A>C)
c.5199+30A>C (n.5199+30A>C)
c.1965+30A>C (n.1965+30A>C)
c.1827+30A>C (n.1827+30A>C)
c.4389+30A>C (n.4389+30A>C)
c.5154+30A>C (n.5154+30A>C)
c.5343+30A>C (n.5343+30A>C)
c.5136+30A>C (n.5136+30A>C)
c.1839+30A>C (n.1839+30A>C)
c.5340+30A>C (n.5340+30A>C)
c.1664+30A>C
c.1851+30A>C (n.1851+30A>C)
c.*5060+30A>C (n.*5060+30A>C)
c.207+30A>C (n.207+30A>C)
c.750+30A>C (n.750+30A>C)
c.-98-6832A>C (n.-98-6832A>C)
n.5413+30A>C
n.5454+30A>C
 dbSNP
17g.43057026delCA2638061224BRCA1c.5274+30del (n.5274+30del)
c.5277+30del (n.5277+30del)
c.5151+30del (n.5151+30del)
c.5271+30del (n.5271+30del)
c.5199+30del (n.5199+30del)
c.1965+30del (n.1965+30del)
c.1827+30del (n.1827+30del)
c.4389+30del (n.4389+30del)
c.5154+30del (n.5154+30del)
c.5343+30del (n.5343+30del)
c.5136+30del (n.5136+30del)
c.1839+30del (n.1839+30del)
c.5340+30del (n.5340+30del)
c.1664+30del
c.1851+30del (n.1851+30del)
c.*5060+30del (n.*5060+30del)
c.207+30del (n.207+30del)
c.750+30del (n.750+30del)
c.-98-6832del (n.-98-6832del)
n.5413+30del
n.5454+30del
 gnomAD v4
17g.43057023T>CCA772169964BRCA1c.5274+29A>G (n.5274+29A>G)
c.5277+29A>G (n.5277+29A>G)
c.5151+29A>G (n.5151+29A>G)
c.5271+29A>G (n.5271+29A>G)
c.5199+29A>G (n.5199+29A>G)
c.1965+29A>G (n.1965+29A>G)
c.1827+29A>G (n.1827+29A>G)
c.4389+29A>G (n.4389+29A>G)
c.5154+29A>G (n.5154+29A>G)
c.5343+29A>G (n.5343+29A>G)
c.5136+29A>G (n.5136+29A>G)
c.1839+29A>G (n.1839+29A>G)
c.5340+29A>G (n.5340+29A>G)
c.1664+29A>G
c.1851+29A>G (n.1851+29A>G)
c.*5060+29A>G (n.*5060+29A>G)
c.207+29A>G (n.207+29A>G)
c.750+29A>G (n.750+29A>G)
c.-98-6833A>G (n.-98-6833A>G)
n.5413+29A>G
n.5454+29A>G
 dbSNP
17g.43057023T=CA2260766334BRCA1c.5274+29A= (n.5274+29A=)
c.5277+29A= (n.5277+29A=)
c.5151+29A= (n.5151+29A=)
c.5271+29A= (n.5271+29A=)
c.5199+29A= (n.5199+29A=)
c.1965+29A= (n.1965+29A=)
c.1827+29A= (n.1827+29A=)
c.4389+29A= (n.4389+29A=)
c.5154+29A= (n.5154+29A=)
c.5343+29A= (n.5343+29A=)
c.5136+29A= (n.5136+29A=)
c.1839+29A= (n.1839+29A=)
c.5340+29A= (n.5340+29A=)
c.1664+29A=
c.1851+29A= (n.1851+29A=)
c.*5060+29A= (n.*5060+29A=)
c.207+29A= (n.207+29A=)
c.750+29A= (n.750+29A=)
c.-98-6833A= (n.-98-6833A=)
n.5413+29A=
n.5454+29A=
17g.43057025T>ACA2733912839BRCA1c.5274+27A>T (n.5274+27A>T)
c.5277+27A>T (n.5277+27A>T)
c.5151+27A>T (n.5151+27A>T)
c.5271+27A>T (n.5271+27A>T)
c.5199+27A>T (n.5199+27A>T)
c.1965+27A>T (n.1965+27A>T)
c.1827+27A>T (n.1827+27A>T)
c.4389+27A>T (n.4389+27A>T)
c.5154+27A>T (n.5154+27A>T)
c.5343+27A>T (n.5343+27A>T)
c.5136+27A>T (n.5136+27A>T)
c.1839+27A>T (n.1839+27A>T)
c.5340+27A>T (n.5340+27A>T)
c.1664+27A>T
c.1851+27A>T (n.1851+27A>T)
c.*5060+27A>T (n.*5060+27A>T)
c.207+27A>T (n.207+27A>T)
c.750+27A>T (n.750+27A>T)
c.-98-6835A>T (n.-98-6835A>T)
n.5413+27A>T
n.5454+27A>T
 dbSNP
17g.43057025T>CCA2576282067BRCA1c.5274+27A>G (n.5274+27A>G)
c.5277+27A>G (n.5277+27A>G)
c.5151+27A>G (n.5151+27A>G)
c.5271+27A>G (n.5271+27A>G)
c.5199+27A>G (n.5199+27A>G)
c.1965+27A>G (n.1965+27A>G)
c.1827+27A>G (n.1827+27A>G)
c.4389+27A>G (n.4389+27A>G)
c.5154+27A>G (n.5154+27A>G)
c.5343+27A>G (n.5343+27A>G)
c.5136+27A>G (n.5136+27A>G)
c.1839+27A>G (n.1839+27A>G)
c.5340+27A>G (n.5340+27A>G)
c.1664+27A>G
c.1851+27A>G (n.1851+27A>G)
c.*5060+27A>G (n.*5060+27A>G)
c.207+27A>G (n.207+27A>G)
c.750+27A>G (n.750+27A>G)
c.-98-6835A>G (n.-98-6835A>G)
n.5413+27A>G
n.5454+27A>G
 dbSNP
17g.43057025T>GCA2733912838BRCA1c.5274+27A>C (n.5274+27A>C)
c.5277+27A>C (n.5277+27A>C)
c.5151+27A>C (n.5151+27A>C)
c.5271+27A>C (n.5271+27A>C)
c.5199+27A>C (n.5199+27A>C)
c.1965+27A>C (n.1965+27A>C)
c.1827+27A>C (n.1827+27A>C)
c.4389+27A>C (n.4389+27A>C)
c.5154+27A>C (n.5154+27A>C)
c.5343+27A>C (n.5343+27A>C)
c.5136+27A>C (n.5136+27A>C)
c.1839+27A>C (n.1839+27A>C)
c.5340+27A>C (n.5340+27A>C)
c.1664+27A>C
c.1851+27A>C (n.1851+27A>C)
c.*5060+27A>C (n.*5060+27A>C)
c.207+27A>C (n.207+27A>C)
c.750+27A>C (n.750+27A>C)
c.-98-6835A>C (n.-98-6835A>C)
n.5413+27A>C
n.5454+27A>C
 dbSNP
17g.43057026T>ACA2733647024BRCA1c.5274+26A>T (n.5274+26A>T)
c.5277+26A>T (n.5277+26A>T)
c.5151+26A>T (n.5151+26A>T)
c.5271+26A>T (n.5271+26A>T)
c.5199+26A>T (n.5199+26A>T)
c.1965+26A>T (n.1965+26A>T)
c.1827+26A>T (n.1827+26A>T)
c.4389+26A>T (n.4389+26A>T)
c.5154+26A>T (n.5154+26A>T)
c.5343+26A>T (n.5343+26A>T)
c.5136+26A>T (n.5136+26A>T)
c.1839+26A>T (n.1839+26A>T)
c.5340+26A>T (n.5340+26A>T)
c.1664+26A>T
c.1851+26A>T (n.1851+26A>T)
c.*5060+26A>T (n.*5060+26A>T)
c.207+26A>T (n.207+26A>T)
c.750+26A>T (n.750+26A>T)
c.-98-6836A>T (n.-98-6836A>T)
n.5413+26A>T
n.5454+26A>T
 dbSNP
17g.43057026T>CCA054319BRCA1c.5274+26A>G (n.5274+26A>G)
c.5277+26A>G (n.5277+26A>G)
c.5151+26A>G (n.5151+26A>G)
c.5271+26A>G (n.5271+26A>G)
c.5199+26A>G (n.5199+26A>G)
c.1965+26A>G (n.1965+26A>G)
c.1827+26A>G (n.1827+26A>G)
c.4389+26A>G (n.4389+26A>G)
c.5154+26A>G (n.5154+26A>G)
c.5343+26A>G (n.5343+26A>G)
c.5136+26A>G (n.5136+26A>G)
c.1839+26A>G (n.1839+26A>G)
c.5340+26A>G (n.5340+26A>G)
c.1664+26A>G
c.1851+26A>G (n.1851+26A>G)
c.*5060+26A>G (n.*5060+26A>G)
c.207+26A>G (n.207+26A>G)
c.750+26A>G (n.750+26A>G)
c.-98-6836A>G (n.-98-6836A>G)
n.5413+26A>G
n.5454+26A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.43057026T=CA2260766335BRCA1c.5274+26A= (n.5274+26A=)
c.5277+26A= (n.5277+26A=)
c.5151+26A= (n.5151+26A=)
c.5271+26A= (n.5271+26A=)
c.5199+26A= (n.5199+26A=)
c.1965+26A= (n.1965+26A=)
c.1827+26A= (n.1827+26A=)
c.4389+26A= (n.4389+26A=)
c.5154+26A= (n.5154+26A=)
c.5343+26A= (n.5343+26A=)
c.5136+26A= (n.5136+26A=)
c.1839+26A= (n.1839+26A=)
c.5340+26A= (n.5340+26A=)
c.1664+26A=
c.1851+26A= (n.1851+26A=)
c.*5060+26A= (n.*5060+26A=)
c.207+26A= (n.207+26A=)
c.750+26A= (n.750+26A=)
c.-98-6836A= (n.-98-6836A=)
n.5413+26A=
n.5454+26A=
17g.43057027delCA2638061225BRCA1c.5274+25del (n.5274+25del)
c.5277+25del (n.5277+25del)
c.5151+25del (n.5151+25del)
c.5271+25del (n.5271+25del)
c.5199+25del (n.5199+25del)
c.1965+25del (n.1965+25del)
c.1827+25del (n.1827+25del)
c.4389+25del (n.4389+25del)
c.5154+25del (n.5154+25del)
c.5343+25del (n.5343+25del)
c.5136+25del (n.5136+25del)
c.1839+25del (n.1839+25del)
c.5340+25del (n.5340+25del)
c.1664+25del
c.1851+25del (n.1851+25del)
c.*5060+25del (n.*5060+25del)
c.207+25del (n.207+25del)
c.750+25del (n.750+25del)
c.-98-6837del (n.-98-6837del)
n.5413+25del
n.5454+25del
 gnomAD v4
17g.43057027G>ACA290823287BRCA1c.5274+25C>T (n.5274+25C>T)
c.5277+25C>T (n.5277+25C>T)
c.5151+25C>T (n.5151+25C>T)
c.5271+25C>T (n.5271+25C>T)
c.5199+25C>T (n.5199+25C>T)
c.1965+25C>T (n.1965+25C>T)
c.1827+25C>T (n.1827+25C>T)
c.4389+25C>T (n.4389+25C>T)
c.5154+25C>T (n.5154+25C>T)
c.5343+25C>T (n.5343+25C>T)
c.5136+25C>T (n.5136+25C>T)
c.1839+25C>T (n.1839+25C>T)
c.5340+25C>T (n.5340+25C>T)
c.1664+25C>T
c.1851+25C>T (n.1851+25C>T)
c.*5060+25C>T (n.*5060+25C>T)
c.207+25C>T (n.207+25C>T)
c.750+25C>T (n.750+25C>T)
c.-98-6837C>T (n.-98-6837C>T)
n.5413+25C>T
n.5454+25C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.43057027G>CCA2733654520BRCA1c.5274+25C>G (n.5274+25C>G)
c.5277+25C>G (n.5277+25C>G)
c.5151+25C>G (n.5151+25C>G)
c.5271+25C>G (n.5271+25C>G)
c.5199+25C>G (n.5199+25C>G)
c.1965+25C>G (n.1965+25C>G)
c.1827+25C>G (n.1827+25C>G)
c.4389+25C>G (n.4389+25C>G)
c.5154+25C>G (n.5154+25C>G)
c.5343+25C>G (n.5343+25C>G)
c.5136+25C>G (n.5136+25C>G)
c.1839+25C>G (n.1839+25C>G)
c.5340+25C>G (n.5340+25C>G)
c.1664+25C>G
c.1851+25C>G (n.1851+25C>G)
c.*5060+25C>G (n.*5060+25C>G)
c.207+25C>G (n.207+25C>G)
c.750+25C>G (n.750+25C>G)
c.-98-6837C>G (n.-98-6837C>G)
n.5413+25C>G
n.5454+25C>G
 dbSNP
17g.43057027G=CA2260766336BRCA1c.5274+25C= (n.5274+25C=)
c.5277+25C= (n.5277+25C=)
c.5151+25C= (n.5151+25C=)
c.5271+25C= (n.5271+25C=)
c.5199+25C= (n.5199+25C=)
c.1965+25C= (n.1965+25C=)
c.1827+25C= (n.1827+25C=)
c.4389+25C= (n.4389+25C=)
c.5154+25C= (n.5154+25C=)
c.5343+25C= (n.5343+25C=)
c.5136+25C= (n.5136+25C=)
c.1839+25C= (n.1839+25C=)
c.5340+25C= (n.5340+25C=)
c.1664+25C=
c.1851+25C= (n.1851+25C=)
c.*5060+25C= (n.*5060+25C=)
c.207+25C= (n.207+25C=)
c.750+25C= (n.750+25C=)
c.-98-6837C= (n.-98-6837C=)
n.5413+25C=
n.5454+25C=
17g.43057027G>TCA2733654519BRCA1c.5274+25C>A (n.5274+25C>A)
c.5277+25C>A (n.5277+25C>A)
c.5151+25C>A (n.5151+25C>A)
c.5271+25C>A (n.5271+25C>A)
c.5199+25C>A (n.5199+25C>A)
c.1965+25C>A (n.1965+25C>A)
c.1827+25C>A (n.1827+25C>A)
c.4389+25C>A (n.4389+25C>A)
c.5154+25C>A (n.5154+25C>A)
c.5343+25C>A (n.5343+25C>A)
c.5136+25C>A (n.5136+25C>A)
c.1839+25C>A (n.1839+25C>A)
c.5340+25C>A (n.5340+25C>A)
c.1664+25C>A
c.1851+25C>A (n.1851+25C>A)
c.*5060+25C>A (n.*5060+25C>A)
c.207+25C>A (n.207+25C>A)
c.750+25C>A (n.750+25C>A)
c.-98-6837C>A (n.-98-6837C>A)
n.5413+25C>A
n.5454+25C>A
 dbSNP
17g.43057028T>ACA2733643961BRCA1c.5274+24A>T (n.5274+24A>T)
c.5277+24A>T (n.5277+24A>T)
c.5151+24A>T (n.5151+24A>T)
c.5271+24A>T (n.5271+24A>T)
c.5199+24A>T (n.5199+24A>T)
c.1965+24A>T (n.1965+24A>T)
c.1827+24A>T (n.1827+24A>T)
c.4389+24A>T (n.4389+24A>T)
c.5154+24A>T (n.5154+24A>T)
c.5343+24A>T (n.5343+24A>T)
c.5136+24A>T (n.5136+24A>T)
c.1839+24A>T (n.1839+24A>T)
c.5340+24A>T (n.5340+24A>T)
c.1664+24A>T
c.1851+24A>T (n.1851+24A>T)
c.*5060+24A>T (n.*5060+24A>T)
c.207+24A>T (n.207+24A>T)
c.750+24A>T (n.750+24A>T)
c.-98-6838A>T (n.-98-6838A>T)
n.5413+24A>T
n.5454+24A>T
 dbSNP
17g.43057028T>CCA290823290BRCA1c.5274+24A>G (n.5274+24A>G)
c.5277+24A>G (n.5277+24A>G)
c.5151+24A>G (n.5151+24A>G)
c.5271+24A>G (n.5271+24A>G)
c.5199+24A>G (n.5199+24A>G)
c.1965+24A>G (n.1965+24A>G)
c.1827+24A>G (n.1827+24A>G)
c.4389+24A>G (n.4389+24A>G)
c.5154+24A>G (n.5154+24A>G)
c.5343+24A>G (n.5343+24A>G)
c.5136+24A>G (n.5136+24A>G)
c.1839+24A>G (n.1839+24A>G)
c.5340+24A>G (n.5340+24A>G)
c.1664+24A>G
c.1851+24A>G (n.1851+24A>G)
c.*5060+24A>G (n.*5060+24A>G)
c.207+24A>G (n.207+24A>G)
c.750+24A>G (n.750+24A>G)
c.-98-6838A>G (n.-98-6838A>G)
n.5413+24A>G
n.5454+24A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.43057028T>GCA2733643960BRCA1c.5274+24A>C (n.5274+24A>C)
c.5277+24A>C (n.5277+24A>C)
c.5151+24A>C (n.5151+24A>C)
c.5271+24A>C (n.5271+24A>C)
c.5199+24A>C (n.5199+24A>C)
c.1965+24A>C (n.1965+24A>C)
c.1827+24A>C (n.1827+24A>C)
c.4389+24A>C (n.4389+24A>C)
c.5154+24A>C (n.5154+24A>C)
c.5343+24A>C (n.5343+24A>C)
c.5136+24A>C (n.5136+24A>C)
c.1839+24A>C (n.1839+24A>C)
c.5340+24A>C (n.5340+24A>C)
c.1664+24A>C
c.1851+24A>C (n.1851+24A>C)
c.*5060+24A>C (n.*5060+24A>C)
c.207+24A>C (n.207+24A>C)
c.750+24A>C (n.750+24A>C)
c.-98-6838A>C (n.-98-6838A>C)
n.5413+24A>C
n.5454+24A>C
 dbSNP
17g.43057028T=CA2260766337BRCA1c.5274+24A= (n.5274+24A=)
c.5277+24A= (n.5277+24A=)
c.5151+24A= (n.5151+24A=)
c.5271+24A= (n.5271+24A=)
c.5199+24A= (n.5199+24A=)
c.1965+24A= (n.1965+24A=)
c.1827+24A= (n.1827+24A=)
c.4389+24A= (n.4389+24A=)
c.5154+24A= (n.5154+24A=)
c.5343+24A= (n.5343+24A=)
c.5136+24A= (n.5136+24A=)
c.1839+24A= (n.1839+24A=)
c.5340+24A= (n.5340+24A=)
c.1664+24A=
c.1851+24A= (n.1851+24A=)
c.*5060+24A= (n.*5060+24A=)
c.207+24A= (n.207+24A=)
c.750+24A= (n.750+24A=)
c.-98-6838A= (n.-98-6838A=)
n.5413+24A=
n.5454+24A=
17g.43057028_43057029insAAGACTTATTACA2553185329BRCA1c.5274+23_5274+24insTAATAAGTCTT (n.5274+23_5274+24insTAATAAGTCTT)
c.5277+23_5277+24insTAATAAGTCTT (n.5277+23_5277+24insTAATAAGTCTT)
c.5151+23_5151+24insTAATAAGTCTT (n.5151+23_5151+24insTAATAAGTCTT)
c.5271+23_5271+24insTAATAAGTCTT (n.5271+23_5271+24insTAATAAGTCTT)
c.5199+23_5199+24insTAATAAGTCTT (n.5199+23_5199+24insTAATAAGTCTT)
c.1965+23_1965+24insTAATAAGTCTT (n.1965+23_1965+24insTAATAAGTCTT)
c.1827+23_1827+24insTAATAAGTCTT (n.1827+23_1827+24insTAATAAGTCTT)
c.4389+23_4389+24insTAATAAGTCTT (n.4389+23_4389+24insTAATAAGTCTT)
c.5154+23_5154+24insTAATAAGTCTT (n.5154+23_5154+24insTAATAAGTCTT)
c.5343+23_5343+24insTAATAAGTCTT (n.5343+23_5343+24insTAATAAGTCTT)
c.5136+23_5136+24insTAATAAGTCTT (n.5136+23_5136+24insTAATAAGTCTT)
c.1839+23_1839+24insTAATAAGTCTT (n.1839+23_1839+24insTAATAAGTCTT)
c.5340+23_5340+24insTAATAAGTCTT (n.5340+23_5340+24insTAATAAGTCTT)
c.1664+23_1664+24insTAATAAGTCTT
c.1851+23_1851+24insTAATAAGTCTT (n.1851+23_1851+24insTAATAAGTCTT)
c.*5060+23_*5060+24insTAATAAGTCTT (n.*5060+23_*5060+24insTAATAAGTCTT)
c.207+23_207+24insTAATAAGTCTT (n.207+23_207+24insTAATAAGTCTT)
c.750+23_750+24insTAATAAGTCTT (n.750+23_750+24insTAATAAGTCTT)
c.-98-6839_-98-6838insTAATAAGTCTT (n.-98-6839_-98-6838insTAATAAGTCTT)
n.5413+23_5413+24insTAATAAGTCTT
n.5454+23_5454+24insTAATAAGTCTT
17g.43057029C>ACA2733912843BRCA1c.5274+23G>T (n.5274+23G>T)
c.5277+23G>T (n.5277+23G>T)
c.5151+23G>T (n.5151+23G>T)
c.5271+23G>T (n.5271+23G>T)
c.5199+23G>T (n.5199+23G>T)
c.1965+23G>T (n.1965+23G>T)
c.1827+23G>T (n.1827+23G>T)
c.4389+23G>T (n.4389+23G>T)
c.5154+23G>T (n.5154+23G>T)
c.5343+23G>T (n.5343+23G>T)
c.5136+23G>T (n.5136+23G>T)
c.1839+23G>T (n.1839+23G>T)
c.5340+23G>T (n.5340+23G>T)
c.1664+23G>T
c.1851+23G>T (n.1851+23G>T)
c.*5060+23G>T (n.*5060+23G>T)
c.207+23G>T (n.207+23G>T)
c.750+23G>T (n.750+23G>T)
c.-98-6839G>T (n.-98-6839G>T)
n.5413+23G>T
n.5454+23G>T
 dbSNP
17g.43057029C>GCA2733912845BRCA1c.5274+23G>C (n.5274+23G>C)
c.5277+23G>C (n.5277+23G>C)
c.5151+23G>C (n.5151+23G>C)
c.5271+23G>C (n.5271+23G>C)
c.5199+23G>C (n.5199+23G>C)
c.1965+23G>C (n.1965+23G>C)
c.1827+23G>C (n.1827+23G>C)
c.4389+23G>C (n.4389+23G>C)
c.5154+23G>C (n.5154+23G>C)
c.5343+23G>C (n.5343+23G>C)
c.5136+23G>C (n.5136+23G>C)
c.1839+23G>C (n.1839+23G>C)
c.5340+23G>C (n.5340+23G>C)
c.1664+23G>C
c.1851+23G>C (n.1851+23G>C)
c.*5060+23G>C (n.*5060+23G>C)
c.207+23G>C (n.207+23G>C)
c.750+23G>C (n.750+23G>C)
c.-98-6839G>C (n.-98-6839G>C)
n.5413+23G>C
n.5454+23G>C
 dbSNP
17g.43057029C>TCA2733912844BRCA1c.5274+23G>A (n.5274+23G>A)
c.5277+23G>A (n.5277+23G>A)
c.5151+23G>A (n.5151+23G>A)
c.5271+23G>A (n.5271+23G>A)
c.5199+23G>A (n.5199+23G>A)
c.1965+23G>A (n.1965+23G>A)
c.1827+23G>A (n.1827+23G>A)
c.4389+23G>A (n.4389+23G>A)
c.5154+23G>A (n.5154+23G>A)
c.5343+23G>A (n.5343+23G>A)
c.5136+23G>A (n.5136+23G>A)
c.1839+23G>A (n.1839+23G>A)
c.5340+23G>A (n.5340+23G>A)
c.1664+23G>A
c.1851+23G>A (n.1851+23G>A)
c.*5060+23G>A (n.*5060+23G>A)
c.207+23G>A (n.207+23G>A)
c.750+23G>A (n.750+23G>A)
c.-98-6839G>A (n.-98-6839G>A)
n.5413+23G>A
n.5454+23G>A
 dbSNP
17g.43057030A>GCA2733912851BRCA1c.5274+22T>C (n.5274+22T>C)
c.5277+22T>C (n.5277+22T>C)
c.5151+22T>C (n.5151+22T>C)
c.5271+22T>C (n.5271+22T>C)
c.5199+22T>C (n.5199+22T>C)
c.1965+22T>C (n.1965+22T>C)
c.1827+22T>C (n.1827+22T>C)
c.4389+22T>C (n.4389+22T>C)
c.5154+22T>C (n.5154+22T>C)
c.5343+22T>C (n.5343+22T>C)
c.5136+22T>C (n.5136+22T>C)
c.1839+22T>C (n.1839+22T>C)
c.5340+22T>C (n.5340+22T>C)
c.1664+22T>C
c.1851+22T>C (n.1851+22T>C)
c.*5060+22T>C (n.*5060+22T>C)
c.207+22T>C (n.207+22T>C)
c.750+22T>C (n.750+22T>C)
c.-98-6840T>C (n.-98-6840T>C)
n.5413+22T>C
n.5454+22T>C
 dbSNP
17g.43057030A>TCA2733912853BRCA1c.5274+22T>A (n.5274+22T>A)
c.5277+22T>A (n.5277+22T>A)
c.5151+22T>A (n.5151+22T>A)
c.5271+22T>A (n.5271+22T>A)
c.5199+22T>A (n.5199+22T>A)
c.1965+22T>A (n.1965+22T>A)
c.1827+22T>A (n.1827+22T>A)
c.4389+22T>A (n.4389+22T>A)
c.5154+22T>A (n.5154+22T>A)
c.5343+22T>A (n.5343+22T>A)
c.5136+22T>A (n.5136+22T>A)
c.1839+22T>A (n.1839+22T>A)
c.5340+22T>A (n.5340+22T>A)
c.1664+22T>A
c.1851+22T>A (n.1851+22T>A)
c.*5060+22T>A (n.*5060+22T>A)
c.207+22T>A (n.207+22T>A)
c.750+22T>A (n.750+22T>A)
c.-98-6840T>A (n.-98-6840T>A)
n.5413+22T>A
n.5454+22T>A
 dbSNP
17g.43057030_43057031insCCA2695226108BRCA1c.5274+21_5274+22insG (n.5274+21_5274+22insG)
c.5277+21_5277+22insG (n.5277+21_5277+22insG)
c.5151+21_5151+22insG (n.5151+21_5151+22insG)
c.5271+21_5271+22insG (n.5271+21_5271+22insG)
c.5199+21_5199+22insG (n.5199+21_5199+22insG)
c.1965+21_1965+22insG (n.1965+21_1965+22insG)
c.1827+21_1827+22insG (n.1827+21_1827+22insG)
c.4389+21_4389+22insG (n.4389+21_4389+22insG)
c.5154+21_5154+22insG (n.5154+21_5154+22insG)
c.5343+21_5343+22insG (n.5343+21_5343+22insG)
c.5136+21_5136+22insG (n.5136+21_5136+22insG)
c.1839+21_1839+22insG (n.1839+21_1839+22insG)
c.5340+21_5340+22insG (n.5340+21_5340+22insG)
c.1664+21_1664+22insG
c.1851+21_1851+22insG (n.1851+21_1851+22insG)
c.*5060+21_*5060+22insG (n.*5060+21_*5060+22insG)
c.207+21_207+22insG (n.207+21_207+22insG)
c.750+21_750+22insG (n.750+21_750+22insG)
c.-98-6841_-98-6840insG (n.-98-6841_-98-6840insG)
n.5413+21_5413+22insG
n.5454+21_5454+22insG
17g.43057031A=CA2260766338BRCA1c.5274+21T= (n.5274+21T=)
c.5277+21T= (n.5277+21T=)
c.5151+21T= (n.5151+21T=)
c.5271+21T= (n.5271+21T=)
c.5199+21T= (n.5199+21T=)
c.1965+21T= (n.1965+21T=)
c.1827+21T= (n.1827+21T=)
c.4389+21T= (n.4389+21T=)
c.5154+21T= (n.5154+21T=)
c.5343+21T= (n.5343+21T=)
c.5136+21T= (n.5136+21T=)
c.1839+21T= (n.1839+21T=)
c.5340+21T= (n.5340+21T=)
c.1664+21T=
c.1851+21T= (n.1851+21T=)
c.*5060+21T= (n.*5060+21T=)
c.207+21T= (n.207+21T=)
c.750+21T= (n.750+21T=)
c.-98-6841T= (n.-98-6841T=)
n.5413+21T=
n.5454+21T=
17g.43057031A>CCA003421BRCA1c.5274+21T>G (n.5274+21T>G)
c.5277+21T>G (n.5277+21T>G)
c.5151+21T>G (n.5151+21T>G)
c.5271+21T>G (n.5271+21T>G)
c.5199+21T>G (n.5199+21T>G)
c.1965+21T>G (n.1965+21T>G)
c.1827+21T>G (n.1827+21T>G)
c.4389+21T>G (n.4389+21T>G)
c.5154+21T>G (n.5154+21T>G)
c.5343+21T>G (n.5343+21T>G)
c.5136+21T>G (n.5136+21T>G)
c.1839+21T>G (n.1839+21T>G)
c.5340+21T>G (n.5340+21T>G)
c.1664+21T>G
c.1851+21T>G (n.1851+21T>G)
c.*5060+21T>G (n.*5060+21T>G)
c.207+21T>G (n.207+21T>G)
c.750+21T>G (n.750+21T>G)
c.-98-6841T>G (n.-98-6841T>G)
n.5413+21T>G
n.5454+21T>G
 ClinVar dbSNP
17g.43057031A>GCA983871698BRCA1c.5274+21T>C (n.5274+21T>C)
c.5277+21T>C (n.5277+21T>C)
c.5151+21T>C (n.5151+21T>C)
c.5271+21T>C (n.5271+21T>C)
c.5199+21T>C (n.5199+21T>C)
c.1965+21T>C (n.1965+21T>C)
c.1827+21T>C (n.1827+21T>C)
c.4389+21T>C (n.4389+21T>C)
c.5154+21T>C (n.5154+21T>C)
c.5343+21T>C (n.5343+21T>C)
c.5136+21T>C (n.5136+21T>C)
c.1839+21T>C (n.1839+21T>C)
c.5340+21T>C (n.5340+21T>C)
c.1664+21T>C
c.1851+21T>C (n.1851+21T>C)
c.*5060+21T>C (n.*5060+21T>C)
c.207+21T>C (n.207+21T>C)
c.750+21T>C (n.750+21T>C)
c.-98-6841T>C (n.-98-6841T>C)
n.5413+21T>C
n.5454+21T>C
 dbSNP gnomAD v3 gnomAD v4
17g.43057031A>TCA2733643962BRCA1c.5274+21T>A (n.5274+21T>A)
c.5277+21T>A (n.5277+21T>A)
c.5151+21T>A (n.5151+21T>A)
c.5271+21T>A (n.5271+21T>A)
c.5199+21T>A (n.5199+21T>A)
c.1965+21T>A (n.1965+21T>A)
c.1827+21T>A (n.1827+21T>A)
c.4389+21T>A (n.4389+21T>A)
c.5154+21T>A (n.5154+21T>A)
c.5343+21T>A (n.5343+21T>A)
c.5136+21T>A (n.5136+21T>A)
c.1839+21T>A (n.1839+21T>A)
c.5340+21T>A (n.5340+21T>A)
c.1664+21T>A
c.1851+21T>A (n.1851+21T>A)
c.*5060+21T>A (n.*5060+21T>A)
c.207+21T>A (n.207+21T>A)
c.750+21T>A (n.750+21T>A)
c.-98-6841T>A (n.-98-6841T>A)
n.5413+21T>A
n.5454+21T>A
 dbSNP
17g.43057032C>ACA2733647360BRCA1c.5274+20G>T (n.5274+20G>T)
c.5277+20G>T (n.5277+20G>T)
c.5151+20G>T (n.5151+20G>T)
c.5271+20G>T (n.5271+20G>T)
c.5199+20G>T (n.5199+20G>T)
c.1965+20G>T (n.1965+20G>T)
c.1827+20G>T (n.1827+20G>T)
c.4389+20G>T (n.4389+20G>T)
c.5154+20G>T (n.5154+20G>T)
c.5343+20G>T (n.5343+20G>T)
c.5136+20G>T (n.5136+20G>T)
c.1839+20G>T (n.1839+20G>T)
c.5340+20G>T (n.5340+20G>T)
c.1664+20G>T
c.1851+20G>T (n.1851+20G>T)
c.*5060+20G>T (n.*5060+20G>T)
c.207+20G>T (n.207+20G>T)
c.750+20G>T (n.750+20G>T)
c.-98-6842G>T (n.-98-6842G>T)
n.5413+20G>T
n.5454+20G>T
 dbSNP
17g.43057032C=CA2260766339BRCA1c.5274+20G= (n.5274+20G=)
c.5277+20G= (n.5277+20G=)
c.5151+20G= (n.5151+20G=)
c.5271+20G= (n.5271+20G=)
c.5199+20G= (n.5199+20G=)
c.1965+20G= (n.1965+20G=)
c.1827+20G= (n.1827+20G=)
c.4389+20G= (n.4389+20G=)
c.5154+20G= (n.5154+20G=)
c.5343+20G= (n.5343+20G=)
c.5136+20G= (n.5136+20G=)
c.1839+20G= (n.1839+20G=)
c.5340+20G= (n.5340+20G=)
c.1664+20G=
c.1851+20G= (n.1851+20G=)
c.*5060+20G= (n.*5060+20G=)
c.207+20G= (n.207+20G=)
c.750+20G= (n.750+20G=)
c.-98-6842G= (n.-98-6842G=)
n.5413+20G=
n.5454+20G=
17g.43057032C>GCA2499224361BRCA1c.5274+20G>C (n.5274+20G>C)
c.5277+20G>C (n.5277+20G>C)
c.5151+20G>C (n.5151+20G>C)
c.5271+20G>C (n.5271+20G>C)
c.5199+20G>C (n.5199+20G>C)
c.1965+20G>C (n.1965+20G>C)
c.1827+20G>C (n.1827+20G>C)
c.4389+20G>C (n.4389+20G>C)
c.5154+20G>C (n.5154+20G>C)
c.5343+20G>C (n.5343+20G>C)
c.5136+20G>C (n.5136+20G>C)
c.1839+20G>C (n.1839+20G>C)
c.5340+20G>C (n.5340+20G>C)
c.1664+20G>C
c.1851+20G>C (n.1851+20G>C)
c.*5060+20G>C (n.*5060+20G>C)
c.207+20G>C (n.207+20G>C)
c.750+20G>C (n.750+20G>C)
c.-98-6842G>C (n.-98-6842G>C)
n.5413+20G>C
n.5454+20G>C
 ClinVar dbSNP
17g.43057032C>TCA054313BRCA1c.5274+20G>A (n.5274+20G>A)
c.5277+20G>A (n.5277+20G>A)
c.5151+20G>A (n.5151+20G>A)
c.5271+20G>A (n.5271+20G>A)
c.5199+20G>A (n.5199+20G>A)
c.1965+20G>A (n.1965+20G>A)
c.1827+20G>A (n.1827+20G>A)
c.4389+20G>A (n.4389+20G>A)
c.5154+20G>A (n.5154+20G>A)
c.5343+20G>A (n.5343+20G>A)
c.5136+20G>A (n.5136+20G>A)
c.1839+20G>A (n.1839+20G>A)
c.5340+20G>A (n.5340+20G>A)
c.1664+20G>A
c.1851+20G>A (n.1851+20G>A)
c.*5060+20G>A (n.*5060+20G>A)
c.207+20G>A (n.207+20G>A)
c.750+20G>A (n.750+20G>A)
c.-98-6842G>A (n.-98-6842G>A)
n.5413+20G>A
n.5454+20G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
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

Number of alleles fetched