Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
---|---|---|---|---|---|---|
2-215632207-C-T | BARD1 | c.1567G>A | p.Val523Ile | Missense | 6/11 | - |
2-215646111-C-T | BARD1 | c.487G>A | p.Val163Met | Missense | 4/11 | - |
2-215645361-C-T | BARD1 | c.1237G>A | p.Ala413Thr | Missense | 4/11 | - |
2-215593563-G-A | BARD1 | c.2171C>T | p.Ala724Val | Missense | 11/11 | - |
2-215645882-A-C | BARD1 | c.716T>G | p.Leu239Arg | Missense | 4/11 | - |
2-215634005-T-TT | BARD1 | c.1349_1349dup | p.Asn450Lysfs*4 | Frameshift | 5/11 | - |
2-215657108-G-A | BARD1 | c.277C>T | p.Gln93* | Nonsense | 3/11 | - |
2-215645580-T-A | BARD1 | c.1018A>T | p.Ile340Phe | Missense | 4/11 | - |
2-215645475-T-C | BARD1 | c.1123A>G | p.Thr375Ala | Missense | 4/11 | - |
2-215617247-G-T | BARD1 | c.1601C>A | p.Thr534Lys | Missense | 7/11 | - |
2-215633997-T-G | BARD1 | c.1354A>C | p.Ser452Arg | Missense | 5/11 | - |
2-215646219-T-C | BARD1 | c.379A>G | p.Lys127Glu | Missense | 4/11 | - |
2-215645606-G-C | BARD1 | c.992C>G | p.Pro331Arg | Missense | 4/11 | - |
2-215645906-G-C | BARD1 | c.692C>G | p.Ser231Cys | Missense | 4/11 | - |
2-215595215-G-A | BARD1 | c.1921C>T | p.Arg641* | Nonsense | 10/11 | - |
2-215610529-C-A | BARD1 | c.1727G>T | p.Gly576Val | Missense | 8/11 | - |
2-215646178-C-A | BARD1 | c.420G>T | p.Lys140Asn | Missense | 4/11 | - |
2-215593455-G-A | BARD1 | c.2279C>T | p.Ser760Leu | Missense | 11/11 | - |
2-215609807-C-A | BARD1 | c.1887G>T | p.Trp629Cys | Missense | 9/11 | - |
2-215609807-C-G | BARD1 | c.1887G>C | p.Trp629Cys | Missense | 9/11 | - |
2-215632308-G-A | BARD1 | c.1466C>T | p.Thr489Ile | Missense | 6/11 | - |
2-215645991-C-T | BARD1 | c.607G>A | p.Gly203Arg | Missense | 4/11 | - |
2-215645991-C-A | BARD1 | c.607G>T | p.Gly203* | Nonsense | 4/11 | - |
2-215593709-G-A | BARD1 | c.2025C>T | p.Cys675Cys | Synonymous | 11/11 | - |
2-215645356-C-G | BARD1 | c.1242G>C | p.Met414Ile | Missense | 4/11 | - |
2-215645356-C-T | BARD1 | c.1242G>A | p.Met414Ile | Missense | 4/11 | - |
2-215593555-C-T | BARD1 | c.2179G>A | p.Asp727Asn | Missense | 11/11 | - |
2-215646141-TCTT-TCTTTCTT | BARD1 | c.457_460dup | p.Val154Glufs*8 | Frameshift | 4/11 | - |
2-215609808-C-A | BARD1 | c.1886G>T | p.Trp629Leu | Missense | 9/11 | - |
2-215645698-A-T | BARD1 | c.900T>A | p.Pro300Pro | Synonymous | 4/11 | - |
2-215645507-G-A | BARD1 | c.1091C>T | p.Ser364Leu | Missense | 4/11 | - |
2-215657140-C-A | BARD1 | c.245G>T | p.Gly82Val | Missense | 3/11 | - |
2-215645537-G-C | BARD1 | c.1061C>G | p.Ser354* | Nonsense | 4/11 | - |
2-215657170-C-T | BARD1 | c.216-1G>A | - | IntronicSNV | - | 2/10 |
2-215593504-T-C | BARD1 | c.2230A>G | p.Asn744Asp | Missense | 11/11 | - |
2-215645651-A-C | BARD1 | c.947T>G | p.Leu316* | Nonsense | 4/11 | - |
2-215646051-C-G | BARD1 | c.547G>C | p.Val183Leu | Missense | 4/11 | - |
2-215645684-T-G | BARD1 | c.914A>C | p.Lys305Thr | Missense | 4/11 | - |
2-215645382-G-A | BARD1 | c.1216C>T | p.Arg406* | Nonsense | 4/11 | - |
2-215646075-C-G | BARD1 | c.523G>C | p.Ala175Pro | Missense | 4/11 | - |
2-215595234-T-A | BARD1 | c.1904-2A>T | - | IntronicSNV | - | 9/10 |
2-215610560-T-G | BARD1 | c.1696A>C | p.Arg566Arg | Synonymous | 8/11 | - |
2-215645881-C-T | BARD1 | c.717G>A | p.Leu239Leu | Synonymous | 4/11 | - |
2-215617196-G-A | BARD1 | c.1652C>T | p.Ser551Leu | Missense | 7/11 | - |
2-215645679-A-T | BARD1 | c.919T>A | p.Tyr307Asn | Missense | 4/11 | - |
2-215595156-G-C | BARD1 | c.1980C>G | p.Ser660Arg | Missense | 10/11 | - |
2-215634034-G-A | BARD1 | c.1317C>T | p.Gly439Gly | Synonymous | 5/11 | - |
2-215645381-C-T | BARD1 | c.1217G>A | p.Arg406Gln | Missense | 4/11 | - |
2-215593476-C-T | BARD1 | c.2258G>A | p.Gly753Asp | Missense | 11/11 | - |
2-215661798-G-A | BARD1 | c.202C>T | p.His68Tyr | Missense | 2/11 | - |
2-215646030-C-A | BARD1 | c.568G>T | p.Asp190Tyr | Missense | 4/11 | - |
2-215646142-C-T | BARD1 | c.456G>A | p.Lys152Lys | Synonymous | 4/11 | - |
2-215632282-G-T | BARD1 | c.1492C>A | p.Leu498Ile | Missense | 6/11 | - |
2-215609884-C-T | BARD1 | c.1811-1G>A | - | IntronicSNV | - | 8/10 |
2-215633978-T-A | BARD1 | c.1373A>T | p.Asp458Val | Missense | 5/11 | - |
2-215592306-G-A | BARD1 | c.*1094C>T | - | IntergenicSNV | 11/11 | - |
2-215617259-G-A | BARD1 | c.1589C>T | p.Pro530Leu | Missense | 7/11 | - |
2-215645796-C-T | BARD1 | c.802G>A | p.Glu268Lys | Missense | 4/11 | - |
2-215645889-G-C | BARD1 | c.709C>G | p.Gln237Glu | Missense | 4/11 | - |
2-215645993-G-C | BARD1 | c.605C>G | p.Ser202Cys | Missense | 4/11 | - |
2-215632297-G-C | BARD1 | c.1477C>G | p.Gln493Glu | Missense | 6/11 | - |
2-215632359-C-T | BARD1 | c.1415G>A | p.Gly472Glu | Missense | 6/11 | - |
2-215610558-C-T | BARD1 | c.1698G>A | p.Arg566Arg | Synonymous | 8/11 | - |
2-215674233-G-A | BARD1 | c.61C>T | p.Arg21Cys | Missense | 1/11 | - |
2-215645628-G-T | BARD1 | c.970C>A | p.His324Asn | Missense | 4/11 | - |
2-215633977-G-A | BARD1 | c.1374C>T | p.Asp458Asp | Synonymous | 5/11 | - |
2-215645426-G-C | BARD1 | c.1172C>G | p.Ser391* | Nonsense | 4/11 | - |
2-215645426-G-T | BARD1 | c.1172C>A | p.Ser391* | Nonsense | 4/11 | - |
2-215633994-C-T | BARD1 | c.1357G>A | p.Asp453Asn | Missense | 5/11 | - |
2-215645523-A-G | BARD1 | c.1075T>C | p.Leu359Leu | Synonymous | 4/11 | - |
2-215617196-G-C | BARD1 | c.1652C>G | p.Ser551* | Nonsense | 7/11 | - |
2-215593615-G-A | BARD1 | c.2119C>T | p.Pro707Ser | Missense | 11/11 | - |
2-215645633-C-T | BARD1 | c.965G>A | p.Arg322His | Missense | 4/11 | - |
2-215645521-C-T | BARD1 | c.1077G>A | p.Leu359Leu | Synonymous | 4/11 | - |
2-215645366-G-T | BARD1 | c.1232C>A | p.Pro411His | Missense | 4/11 | - |
2-215609878-G-C | BARD1 | c.1816C>G | p.His606Asp | Missense | 9/11 | - |
2-215645382-G-C | BARD1 | c.1216C>G | p.Arg406Gly | Missense | 4/11 | - |
2-215674192-C-T | BARD1 | c.102G>A | p.Trp34* | Nonsense | 1/11 | - |
2-215674261-C-A | BARD1 | c.33G>T | p.Gln11His | Missense | 1/11 | - |
2-215617226-G-T | BARD1 | c.1622C>A | p.Ser541* | Nonsense | 7/11 | - |
2-215593660-T-A | BARD1 | c.2074A>T | p.Ile692Phe | Missense | 11/11 | - |
2-215595214-C-T | BARD1 | c.1922G>A | p.Arg641Gln | Missense | 10/11 | - |
2-215617226-G-A | BARD1 | c.1622C>T | p.Ser541Leu | Missense | 7/11 | - |
2-215645508-A-T | BARD1 | c.1090T>A | p.Ser364Thr | Missense | 4/11 | - |
2-215610468-T-C | BARD1 | c.1788A>G | p.Lys596Lys | Synonymous | 8/11 | - |
2-215595156-G-T | BARD1 | c.1980C>A | p.Ser660Arg | Missense | 10/11 | - |
2-215610501-G-A | BARD1 | c.1755C>T | p.Leu585Leu | Synonymous | 8/11 | - |
2-215610501-G-T | BARD1 | c.1755C>A | p.Leu585Leu | Synonymous | 8/11 | - |
2-215645566-A-C | BARD1 | c.1032T>G | p.Ser344Arg | Missense | 4/11 | - |
2-215610515-G-T | BARD1 | c.1741C>A | p.Gln581Lys | Missense | 8/11 | - |
2-215645542-C-T | BARD1 | c.1056G>A | p.Val352Val | Synonymous | 4/11 | - |
2-215657079-G-T | BARD1 | c.306C>A | p.Asp102Glu | Missense | 3/11 | - |
2-215617178-C-G | BARD1 | c.1670G>C | p.Cys557Ser | Missense | 7/11 | - |
2-215632237-A-G | BARD1 | c.1537T>C | p.Leu513Leu | Synonymous | 6/11 | - |
2-215645566-A-T | BARD1 | c.1032T>A | p.Ser344Arg | Missense | 4/11 | - |
2-215645367-G-A | BARD1 | c.1231C>T | p.Pro411Ser | Missense | 4/11 | - |
2-215645790-C-T | BARD1 | c.808G>A | p.Glu270Lys | Missense | 4/11 | - |
2-215646150-G-C | BARD1 | c.448C>G | p.Arg150Gly | Missense | 4/11 | - |
2-215646150-G-A | BARD1 | c.448C>T | p.Arg150* | Nonsense | 4/11 | - |
2-215661842-C-T | BARD1 | c.159-1G>A | - | IntronicSNV | - | 1/10 |
2-215595176-G-A | BARD1 | c.1960C>T | p.Pro654Ser | Missense | 10/11 | - |
2-215645294-G-A | BARD1 | c.1304C>T | p.Ala435Val | Missense | 4/11 | - |
2-215593481-C-T | BARD1 | c.2253G>A | p.Arg751Arg | Synonymous | 11/11 | - |
2-215610454-T-C | BARD1 | c.1802A>G | p.Asp601Gly | Missense | 8/11 | - |
2-215645379-C-T | BARD1 | c.1219G>A | p.Val407Met | Missense | 4/11 | - |
2-215593713-C-A | BARD1 | c.2021G>T | p.Gly674Val | Missense | 11/11 | - |
2-215645606-G-A | BARD1 | c.992C>T | p.Pro331Leu | Missense | 4/11 | - |
2-215645851-G-T | BARD1 | c.747C>A | p.Ile249Ile | Synonymous | 4/11 | - |
2-215593543-G-A | BARD1 | c.2191C>T | p.Arg731Cys | Missense | 11/11 | - |
2-215645851-G-A | BARD1 | c.747C>T | p.Ile249Ile | Synonymous | 4/11 | - |
2-215632335-A-G | BARD1 | c.1439T>C | p.Leu480Ser | Missense | 6/11 | - |
2-215610451-C-A | BARD1 | c.1805G>T | p.Ser602Ile | Missense | 8/11 | - |
2-215632225-C-G | BARD1 | c.1549G>C | p.Gly517Arg | Missense | 6/11 | - |
2-215610465-A-G | BARD1 | c.1791T>C | p.Tyr597Tyr | Synonymous | 8/11 | - |
2-215609853-A-G | BARD1 | c.1841T>C | p.Val614Ala | Missense | 9/11 | - |
2-215632231-A-C | BARD1 | c.1543T>G | p.Ser515Ala | Missense | 6/11 | - |
2-215646146-C-T | BARD1 | c.452G>A | p.Ser151Asn | Missense | 4/11 | - |
2-215674215-C-T | BARD1 | c.79G>A | p.Glu27Lys | Missense | 1/11 | - |
2-215645393-G-C | BARD1 | c.1205C>G | p.Ser402* | Nonsense | 4/11 | - |
2-215632363-G-A | BARD1 | c.1411C>T | p.His471Tyr | Missense | 6/11 | - |
2-215610566-G-A | BARD1 | c.1690C>T | p.Gln564* | Nonsense | 8/11 | - |
2-215593734-T-C | BARD1 | c.2002-2A>G | - | IntronicSNV | - | 10/10 |
2-215593734-T-A | BARD1 | c.2002-2A>T | - | IntronicSNV | - | 10/10 |
2-215593734-T-G | BARD1 | c.2002-2A>C | - | IntronicSNV | - | 10/10 |
2-215674224-GC-ACGCGGAACGAGGCTCGTTCCCGGA | BARD1 | c.69_70delinsTCCGGGAACGAGCCTCGTTCCGCGT | p.Ala25Glyfs*41 | Frameshift | 1/11 | - |
2-215593413-G-A | BARD1 | c.2321C>T | p.Pro774Leu | Missense | 11/11 | - |
2-215674178-G-C | BARD1 | c.116C>G | p.Ala39Gly | Missense | 1/11 | - |
2-215657109-T-C | BARD1 | c.276A>G | p.Ile92Met | Missense | 3/11 | - |
2-215646079-T-G | BARD1 | c.519A>C | p.Ala173Ala | Synonymous | 4/11 | - |
2-215646079-T-C | BARD1 | c.519A>G | p.Ala173Ala | Synonymous | 4/11 | - |
2-215632229-G-A | BARD1 | c.1545C>T | p.Ser515Ser | Synonymous | 6/11 | - |
2-215632225-C-T | BARD1 | c.1549G>A | p.Gly517Arg | Missense | 6/11 | - |
2-215609851-G-C | BARD1 | c.1843C>G | p.Gln615Glu | Missense | 9/11 | - |
2-215645433-T-G | BARD1 | c.1165A>C | p.Ser389Arg | Missense | 4/11 | - |
2-215617174-T-G | BARD1 | c.1674A>C | p.Ser558Ser | Synonymous | 7/11 | - |
2-215617174-T-A | BARD1 | c.1674A>T | p.Ser558Ser | Synonymous | 7/11 | - |
2-215617174-T-C | BARD1 | c.1674A>G | p.Ser558Ser | Synonymous | 7/11 | - |
2-215645860-T-C | BARD1 | c.738A>G | p.Pro246Pro | Synonymous | 4/11 | - |
2-215595167-G-A | BARD1 | c.1969C>T | p.Pro657Ser | Missense | 10/11 | - |
2-215609821-G-T | BARD1 | c.1873C>A | p.Leu625Ile | Missense | 9/11 | - |
2-215672546-G-T | BARD1 | c.158+1590C>A | - | IntronicSNV | - | 1/10 |
2-215646047-G-A | BARD1 | c.551C>T | p.Ser184Phe | Missense | 4/11 | - |
2-215610501-G-C | BARD1 | c.1755C>G | p.Leu585Leu | Synonymous | 8/11 | - |
2-215672546-G-A | BARD1 | c.158+1590C>T | - | IntronicSNV | - | 1/10 |
2-215645844-G-A | BARD1 | c.754C>T | p.Pro252Ser | Missense | 4/11 | - |
2-215595141-T-G | BARD1 | c.1995A>C | p.Glu665Asp | Missense | 10/11 | - |
2-215595141-T-C | BARD1 | c.1995A>G | p.Glu665Glu | Synonymous | 10/11 | - |
2-215595141-T-A | BARD1 | c.1995A>T | p.Glu665Asp | Missense | 10/11 | - |
2-215617170-C-T | BARD1 | c.1677+1G>A | - | IntronicSNV | - | 7/10 |
2-215657120-G-A | BARD1 | c.265C>T | p.Pro89Ser | Missense | 3/11 | - |
2-215657119-G-T | BARD1 | c.266C>A | p.Pro89Gln | Missense | 3/11 | - |
2-215617234-A-G | BARD1 | c.1614T>C | p.Ser538Ser | Synonymous | 7/11 | - |
2-215633985-C-T | BARD1 | c.1366G>A | p.Val456Ile | Missense | 5/11 | - |
2-215617170-C-G | BARD1 | c.1677+1G>C | - | IntronicSNV | - | 7/10 |
2-215593481-C-A | BARD1 | c.2253G>T | p.Arg751Arg | Synonymous | 11/11 | - |
2-215645982-G-T | BARD1 | c.616C>A | p.Gln206Lys | Missense | 4/11 | - |
2-215674232-C-A | BARD1 | c.62G>T | p.Arg21Leu | Missense | 1/11 | - |
2-215632229-G-T | BARD1 | c.1545C>A | p.Ser515Ser | Synonymous | 6/11 | - |
2-215593510-A-C | BARD1 | c.2224T>G | p.Leu742Val | Missense | 11/11 | - |
2-215632229-G-C | BARD1 | c.1545C>G | p.Ser515Ser | Synonymous | 6/11 | - |
2-215657079-G-C | BARD1 | c.306C>G | p.Asp102Glu | Missense | 3/11 | - |
2-215634038-T-C | BARD1 | c.1315-2A>G | - | IntronicSNV | - | 4/10 |
2-215595140-G-A | BARD1 | c.1996C>T | p.Gln666* | Nonsense | 10/11 | - |
2-215645999-G-A | BARD1 | c.599C>T | p.Ala200Val | Missense | 4/11 | - |
2-215645925-C-T | BARD1 | c.673G>A | p.Glu225Lys | Missense | 4/11 | - |
2-215646079-T-A | BARD1 | c.519A>T | p.Ala173Ala | Synonymous | 4/11 | - |
2-215595137-G-A | BARD1 | c.1999C>T | p.Leu667Leu | Synonymous | 10/11 | - |
2-215609790-C-A | BARD1 | c.1903+1G>T | - | IntronicSNV | - | 9/10 |
2-215609790-C-T | BARD1 | c.1903+1G>A | - | IntronicSNV | - | 9/10 |
2-215645609-C-A | BARD1 | c.989G>T | p.Ser330Ile | Missense | 4/11 | - |
2-215645386-G-C | BARD1 | c.1212C>G | p.Tyr404* | Nonsense | 4/11 | - |
2-215593466-C-T | BARD1 | c.2268G>A | p.Trp756* | Nonsense | 11/11 | - |
2-215674291-C-T | BARD1 | c.3G>A | p.Met1Ile | Missense | 1/11 | - |
2-215593631-C-A | BARD1 | c.2103G>T | p.Gln701His | Missense | 11/11 | - |
2-215593631-C-G | BARD1 | c.2103G>C | p.Gln701His | Missense | 11/11 | - |
2-215645757-G-A | BARD1 | c.841C>T | p.Pro281Ser | Missense | 4/11 | - |
2-215657118-C-T | BARD1 | c.267G>A | p.Pro89Pro | Synonymous | 3/11 | - |
2-215633995-A-T | BARD1 | c.1356T>A | p.Ser452Arg | Missense | 5/11 | - |
2-215617209-C-A | BARD1 | c.1639G>T | p.Glu547* | Nonsense | 7/11 | - |
2-215633995-A-C | BARD1 | c.1356T>G | p.Ser452Arg | Missense | 5/11 | - |
2-215661842-C-A | BARD1 | c.159-1G>T | - | IntronicSNV | - | 1/10 |
2-215657120-G-C | BARD1 | c.265C>G | p.Pro89Ala | Missense | 3/11 | - |
2-215646102-G-A | BARD1 | c.496C>T | p.Gln166* | Nonsense | 4/11 | - |
2-215645698-A-C | BARD1 | c.900T>G | p.Pro300Pro | Synonymous | 4/11 | - |
2-215646077-C-A | BARD1 | c.521G>T | p.Ser174Ile | Missense | 4/11 | - |
2-215645698-A-G | BARD1 | c.900T>C | p.Pro300Pro | Synonymous | 4/11 | - |
2-215617260-G-A | BARD1 | c.1588C>T | p.Pro530Ser | Missense | 7/11 | - |
2-215595158-T-G | BARD1 | c.1978A>C | p.Ser660Arg | Missense | 10/11 | - |
2-215632235-T-C | BARD1 | c.1539A>G | p.Leu513Leu | Synonymous | 6/11 | - |
2-215645356-C-A | BARD1 | c.1242G>T | p.Met414Ile | Missense | 4/11 | - |
2-215595135-C-A | BARD1 | c.2001G>T | p.Leu667Leu | Synonymous | 10/11 | - |
2-215595135-C-G | BARD1 | c.2001G>C | p.Leu667Leu | Synonymous | 10/11 | - |
2-215595135-C-T | BARD1 | c.2001G>A | p.Leu667Leu | Synonymous | 10/11 | - |
2-215595166-G-A | BARD1 | c.1970C>T | p.Pro657Leu | Missense | 10/11 | - |
2-215657051-G-T | BARD1 | c.334C>A | p.Arg112Arg | Synonymous | 3/11 | - |
2-215632284-G-A | BARD1 | c.1490C>T | p.Pro497Leu | Missense | 6/11 | - |
2-215657051-G-A | BARD1 | c.334C>T | p.Arg112* | Nonsense | 3/11 | - |
2-215646072-G-A | BARD1 | c.526C>T | p.Gln176* | Nonsense | 4/11 | - |
2-215674239-C-T | BARD1 | c.55G>A | p.Glu19Lys | Missense | 1/11 | - |
2-215674239-C-A | BARD1 | c.55G>T | p.Glu19* | Nonsense | 1/11 | - |
2-215674239-C-G | BARD1 | c.55G>C | p.Glu19Gln | Missense | 1/11 | - |
2-215645568-T-G | BARD1 | c.1030A>C | p.Ser344Arg | Missense | 4/11 | - |
2-215609808-C-T | BARD1 | c.1886G>A | p.Trp629* | Nonsense | 9/11 | - |
2-215593652-G-A | BARD1 | c.2082C>T | p.Leu694Leu | Synonymous | 11/11 | - |
2-215633976-G-A | BARD1 | c.1375C>T | p.His459Tyr | Missense | 5/11 | - |
2-215645705-A-G | BARD1 | c.893T>C | p.Val298Ala | Missense | 4/11 | - |
2-215645333-A-C | BARD1 | c.1265T>G | p.Val422Gly | Missense | 4/11 | - |
2-215595187-T-G | BARD1 | c.1949A>C | p.Lys650Thr | Missense | 10/11 | - |
2-215610445-C-T | BARD1 | c.1810+1G>A | - | IntronicSNV | - | 8/10 |
2-215593447-A-C | BARD1 | c.2287T>G | p.Phe763Val | Missense | 11/11 | - |
2-215645934-C-A | BARD1 | c.664G>T | p.Ala222Ser | Missense | 4/11 | - |
2-215646114-A-C | BARD1 | c.484T>G | p.Ser162Ala | Missense | 4/11 | - |
2-215593564-C-T | BARD1 | c.2170G>A | p.Ala724Thr | Missense | 11/11 | - |
2-215645865-G-A | BARD1 | c.733C>T | p.Gln245* | Nonsense | 4/11 | - |
2-215672546-G-C | BARD1 | c.158+1590C>G | - | IntronicSNV | - | 1/10 |
2-215645431-A-C | BARD1 | c.1167T>G | p.Ser389Arg | Missense | 4/11 | - |
2-215657087-G-A | BARD1 | c.298C>T | p.Gln100* | Nonsense | 3/11 | - |
2-215645431-A-T | BARD1 | c.1167T>A | p.Ser389Arg | Missense | 4/11 | - |
2-215634012-G-A | BARD1 | c.1339C>T | p.Leu447Phe | Missense | 5/11 | - |
2-215632375-C-T | BARD1 | c.1399G>A | p.Glu467Lys | Missense | 6/11 | - |
2-215617172-A-G | BARD1 | c.1676T>C | p.Val559Ala | Missense | 7/11 | - |
2-215657073-C-G | BARD1 | c.312G>C | p.Met104Ile | Missense | 3/11 | - |
2-215645393-G-T | BARD1 | c.1205C>A | p.Ser402* | Nonsense | 4/11 | - |
17-41245571-T-C | BRCA1 | c.1977A>G | p.Pro659Pro | Synonymous | 10/23 | - |
2-215610503-G-A | BARD1 | c.1753C>T | p.Leu585Phe | Missense | 8/11 | - |
2-215632306-T-G | BARD1 | c.1468A>C | p.Thr490Pro | Missense | 6/11 | - |
2-215646044-G-A | BARD1 | c.554C>T | p.Pro185Leu | Missense | 4/11 | - |