Unique variants in gene BARD1

Information The variants shown are described using the NM_000465.2 transcript reference sequence.

121 entries on 2 pages. Showing entries 1 - 100.
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Reported     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
1 c.-48T>C r.(=) p.(=) g.215674341A>G Copied from the Exome Variant Server BARD1_000121 8414/10716 5590/7228 2824/3488
1 c.-30G>C r.(=) p.(=) g.215674323C>G Copied from the Exome Variant Server BARD1_000120 8731/11326 5743/7590 2988/3736
1 c.33G>T r.(?) p.(Gln11His) g.215674261C>A Copied from the Exome Variant Server BARD1_000119 19/11818 19/7876 0/3942
1 c.70C>T r.(?) p.(Pro24Ser) g.215674224G>A Copied from the Exome Variant Server BARD1_000118 3751/12374 2859/8230 892/4144
1 c.90T>A r.(=) p.(=) g.215674204A>T Copied from the Exome Variant Server BARD1_000117 10/12420 0/8262 10/4158
1 c.144G>A r.(=) p.(=) g.215674150C>T Copied from the Exome Variant Server BARD1_000116 3/12166 0/8112 3/4054
1 c.158+46A>C r.(=) p.(=) g.215674090T>G Copied from the Exome Variant Server BARD1_000115 8599/11512 5647/7720 2952/3792
1 c.159-70T>G r.(=) p.(=) g.215661911A>C Copied from the Exome Variant Server BARD1_000114 279/4564 184/3180 95/1384
1 c.159-42A>C r.(=) p.(=) g.215661883T>G Copied from the Exome Variant Server BARD1_000113 93/13004 2/8598 91/4406
1 c.215+12C>T r.(=) p.(=) g.215661773G>A Copied from the Exome Variant Server BARD1_000112 5/13006 0/8600 5/4406
1 c.215+22T>C r.(=) p.(=) g.215661763A>G Copied from the Exome Variant Server BARD1_000111 1/13006 0/8600 1/4406
1 c.215+59_215+60del r.(=) p.(=) g.215661725_215661726del Copied from the Exome Variant Server BARD1_000110 210/12516 197/8250 13/4266
1 c.215+68del r.(=) p.(=) g.215661717del Copied from the Exome Variant Server BARD1_000109 837/12516 510/8250 327/4266
1 c.250C>T r.(?) p.(Pro84Ser) g.215657135G>A Copied from the Exome Variant Server BARD1_000107 1/13006 0/8600 1/4406
1 c.253G>T r.(?) p.(Val85Leu) g.215657132C>A Copied from the Exome Variant Server BARD1_000104 1/13006 1/8600 0/4406
1 c.279A>G r.(=) p.(=) g.215657106T>C Copied from the Exome Variant Server BARD1_000103 2/13006 2/8600 0/4406
1 c.304G>A r.(?) p.(Asp102Asn) g.215657081C>T Copied from the Exome Variant Server BARD1_000101 1/13006 0/8600 1/4406
1 c.308G>A r.(?) p.(Ser103Asn) g.215657077C>T Copied from the Exome Variant Server BARD1_000098 2/13006 0/8600 2/4406
1 c.346C>T r.(?) p.(His116Tyr) g.215657039G>A Copied from the Exome Variant Server BARD1_000096 3/13006 2/8600 1/4406
1 c.348T>C r.(=) p.(=) g.215657037A>G Copied from the Exome Variant Server BARD1_000094 4/13006 0/8600 4/4406
1 c.353A>G r.(?) p.(Asn118Ser) g.215657032T>C Copied from the Exome Variant Server BARD1_000092 2/13006 2/8600 0/4406
1 c.364+17T>C r.(=) p.(=) g.215657004A>G Copied from the Exome Variant Server BARD1_000108 1/13006 1/8600 0/4406
1 c.365-8del r.(=) p.(=) g.215646241del Copied from the Exome Variant Server BARD1_000106 10/12310 5/8070 5/4240
1 c.562C>T r.(?) p.(Pro188Ser) g.215646036G>A Copied from the Exome Variant Server BARD1_000105 1/13006 0/8600 1/4406
1 c.568G>A r.(?) p.(Asp190Asn) g.215646030C>T Copied from the Exome Variant Server BARD1_000102 1/13006 1/8600 0/4406
1 c.586A>G r.(?) p.(Lys196Glu) g.215646012T>C Copied from the Exome Variant Server BARD1_000100 1/13006 1/8600 0/4406
1 c.609A>C r.(=) p.(=) g.215645989T>G Copied from the Exome Variant Server BARD1_000099 117/13006 84/8600 33/4406
1 c.620A>G r.(?) p.(Lys207Arg) g.215645978T>C Copied from the Exome Variant Server BARD1_000097 29/13006 0/8600 29/4406
1 c.659T>C r.(?) p.(Leu220Ser) g.215645939A>G Copied from the Exome Variant Server BARD1_000095 4/13002 3/8598 1/4404
1 c.665C>T r.(?) p.(Ala222Val) g.215645933G>A Copied from the Exome Variant Server BARD1_000093 1/13004 0/8598 1/4406
1 c.668A>G r.(?) p.(Glu223Gly) g.215645930T>C Copied from the Exome Variant Server BARD1_000091 5/13004 5/8598 0/4406
1 c.716T>A r.(?) p.(Leu239Gln) g.215645882A>T Copied from the Exome Variant Server BARD1_000090 2/13004 1/8598 1/4406
1 c.737C>A r.(?) p.(Pro246Gln) g.215645861G>T Copied from the Exome Variant Server BARD1_000089 1/13004 0/8598 1/4406
1 c.764A>G r.(?) p.(Asn255Ser) g.215645834T>C Copied from the Exome Variant Server BARD1_000088 1/13002 0/8596 1/4406
1 c.842C>T r.(?) p.(Pro281Leu) g.215645756G>A Copied from the Exome Variant Server BARD1_000087 2/13002 0/8596 2/4406
1 c.907G>A r.(?) p.(Val303Ile) g.215645691C>T Copied from the Exome Variant Server BARD1_000086 1/13002 1/8596 0/4406
1 c.944C>T r.(?) p.(Pro315Leu) g.215645654G>A Copied from the Exome Variant Server BARD1_000085 1/13004 0/8598 1/4406
1 c.1028C>T r.(?) p.(Thr343Ile) g.215645570G>A Copied from the Exome Variant Server BARD1_000084 2/13006 2/8600 0/4406
1 c.1053G>C r.(=) p.(=) g.215645545C>G Copied from the Exome Variant Server BARD1_000083 2646/13006 1898/8600 748/4406
1 c.1059C>G r.(=) p.(=) g.215645539G>C Copied from the Exome Variant Server BARD1_000082 2/13006 2/8600 0/4406
1 c.1084T>G r.(?) p.(Cys362Gly) g.215645514A>C Copied from the Exome Variant Server BARD1_000081 1/12998 0/8596 1/4402
1 c.1104C>G r.(?) p.(Cys368Trp) g.215645494G>C Copied from the Exome Variant Server BARD1_000080 1/13006 0/8600 1/4406
1 c.1134G>C r.(?) p.(Arg378Ser) g.215645464C>G Copied from the Exome Variant Server BARD1_000079 6917/13006 5167/8600 1750/4406
1 c.1152C>T r.(=) p.(=) g.215645446G>A Copied from the Exome Variant Server BARD1_000078 1/13006 1/8600 0/4406
1 c.1190C>A r.(?) p.(Ser397Tyr) g.215645408G>T Copied from the Exome Variant Server BARD1_000077 1/13006 0/8600 1/4406
1 c.1203T>C r.(=) p.(=) g.215645395A>G Copied from the Exome Variant Server BARD1_000076 1/13006 1/8600 0/4406
1 c.1216C>G r.(?) p.(Arg406Gly) g.215645382G>C Copied from the Exome Variant Server BARD1_000075 1/13006 0/8600 1/4406
1 c.1305T>G r.(=) p.(=) g.215645293A>C Copied from the Exome Variant Server BARD1_000074 1/13006 0/8600 1/4406
1 c.1314+11T>G r.(=) p.(=) g.215645273A>C Copied from the Exome Variant Server BARD1_000073 2/13006 0/8600 2/4406
1 c.1314+13C>T r.(=) p.(=) g.215645271G>A Copied from the Exome Variant Server BARD1_000072 1/13006 1/8600 0/4406
1 c.1314+29C>G r.(=) p.(=) g.215645255G>C Copied from the Exome Variant Server BARD1_000071 221/13004 209/8598 12/4406
1 c.1314+37G>C r.(=) p.(=) g.215645247C>G Copied from the Exome Variant Server BARD1_000070 22/13004 0/8598 22/4406
1 c.1315-26A>G r.(=) p.(=) g.215634062T>C Copied from the Exome Variant Server BARD1_000069 1/13006 0/8600 1/4406
1 c.1315-19G>A r.(=) p.(=) g.215634055C>T Copied from the Exome Variant Server BARD1_000068 4676/13006 3070/8600 1606/4406
1 c.1317C>T r.(=) p.(=) g.215634034G>A Copied from the Exome Variant Server BARD1_000067 1/13006 0/8600 1/4406
1 c.1339C>G r.(?) p.(Leu447Val) g.215634012G>C Copied from the Exome Variant Server BARD1_000066 2/13006 2/8600 0/4406
1 c.1347A>G r.(=) p.(=) g.215634004T>C Copied from the Exome Variant Server BARD1_000065 3/13006 3/8600 0/4406
1 c.1353A>T r.(=) p.(=) g.215633998T>A Copied from the Exome Variant Server BARD1_000064 1/13006 0/8600 1/4406
1 c.1372G>C r.(?) p.(Asp458His) g.215633979C>G Copied from the Exome Variant Server BARD1_000063 1/13006 0/8600 1/4406
1 c.1383A>G r.(=) p.(=) g.215633968T>C Copied from the Exome Variant Server BARD1_000062 1/13006 0/8600 1/4406
1 c.1395+29T>C r.(=) p.(=) g.215633927A>G Copied from the Exome Variant Server BARD1_000061 2/13006 2/8600 0/4406
1 c.1395+50T>C r.(=) p.(=) g.215633906A>G Copied from the Exome Variant Server BARD1_000059 16/13002 14/8596 2/4406
1 c.1439T>C r.(?) p.(Leu480Ser) g.215632335A>G Copied from the Exome Variant Server BARD1_000057 1/13006 0/8600 1/4406
1 c.1473G>A r.(=) p.(=) g.215632301C>T Copied from the Exome Variant Server BARD1_000055 1/13006 0/8600 1/4406
1 c.1479A>G r.(=) p.(=) g.215632295T>C Copied from the Exome Variant Server BARD1_000053 1/13006 1/8600 0/4406
1 c.1515G>T r.(=) p.(=) g.215632259C>A Copied from the Exome Variant Server BARD1_000051 6/13006 0/8600 6/4406
1 c.1518T>C r.(=) p.(=) g.215632256A>G Copied from the Exome Variant Server BARD1_000049 9284/13006 6713/8600 2571/4406
1 c.1519G>A r.(?) p.(Val507Met) g.215632255C>T Copied from the Exome Variant Server BARD1_000047 3650/13006 2372/8600 1278/4406
1 c.1520_1521del r.(?) p.(Val507Glyfs*17) g.215632253_215632254del Copied from the Exome Variant Server BARD1_000045 4651/12520 3077/8254 1574/4266
1 c.1533G>A r.(=) p.(=) g.215632241C>T Copied from the Exome Variant Server BARD1_000043 1/13006 1/8600 0/4406
1 c.1554C>T r.(=) p.(=) g.215632220G>A Copied from the Exome Variant Server BARD1_000041 2/13006 0/8600 2/4406
1 c.1568+14C>T r.(=) p.(=) g.215632192G>A Copied from the Exome Variant Server BARD1_000060 4361/13006 2866/8600 1495/4406
1 c.1568+39C>G r.(=) p.(=) g.215632167G>C Copied from the Exome Variant Server BARD1_000058 2/13006 2/8600 0/4406
1 c.1568+42T>C r.(=) p.(=) g.215632164A>G Copied from the Exome Variant Server BARD1_000056 738/13006 528/8600 210/4406
1 c.1568+51A>G r.(=) p.(=) g.215632155T>C Copied from the Exome Variant Server BARD1_000054 4673/13006 3068/8600 1605/4406
1 c.1585C>T r.(?) p.(Arg529Trp) g.215617263G>A Copied from the Exome Variant Server BARD1_000052 1/13006 0/8600 1/4406
1 c.1613G>A r.(?) p.(Ser538Asn) g.215617235C>T Copied from the Exome Variant Server BARD1_000050 1/13006 1/8600 0/4406
1 c.1670G>C r.(?) p.(Cys557Ser) g.215617178C>G Copied from the Exome Variant Server BARD1_000048 217/13006 205/8600 12/4406
1 c.1677+43A>G r.(=) p.(=) g.215617128T>C Copied from the Exome Variant Server BARD1_000046 3/12994 0/8598 3/4396
1 c.1678-43C>T r.(=) p.(=) g.215610621G>A Copied from the Exome Variant Server BARD1_000044 1/13006 0/8600 1/4406
1 c.1678-38A>C r.(=) p.(=) g.215610616T>G Copied from the Exome Variant Server BARD1_000042 1/13006 1/8600 0/4406
1 c.1678-20A>G r.(=) p.(=) g.215610598T>C Copied from the Exome Variant Server BARD1_000040 3/13006 1/8600 2/4406
1 c.1678-18C>G r.(=) p.(=) g.215610596G>C Copied from the Exome Variant Server BARD1_000039 1/13006 1/8600 0/4406
1 c.1694G>A r.(?) p.(Arg565His) g.215610562C>T Copied from the Exome Variant Server BARD1_000038 3/13006 2/8600 1/4406
1 c.1734T>A r.(=) p.(=) g.215610522A>T Copied from the Exome Variant Server BARD1_000037 1/13006 0/8600 1/4406
1 c.1738G>A r.(?) p.(Glu580Lys) g.215610518C>T Copied from the Exome Variant Server BARD1_000036 62/13006 1/8600 61/4406
1 c.1757G>C r.(?) p.(Ser586Thr) g.215610499C>G Copied from the Exome Variant Server BARD1_000035 1/13006 0/8600 1/4406
1 c.1793C>A r.(?) p.(Thr598Asn) g.215610463G>T Copied from the Exome Variant Server BARD1_000034 1/13006 1/8600 0/4406
1 c.1810+38A>T r.(=) p.(=) g.215610408T>A Copied from the Exome Variant Server BARD1_000033 5/13006 0/8600 5/4406
1 c.1810+39T>G r.(=) p.(=) g.215610407A>C Copied from the Exome Variant Server BARD1_000032 1/13006 0/8600 1/4406
1 c.1810+45A>C r.(=) p.(=) g.215610401T>G Copied from the Exome Variant Server BARD1_000031 1/13006 1/8600 0/4406
1 c.1811-24C>G r.(=) p.(=) g.215609907G>C Copied from the Exome Variant Server BARD1_000030 1/13006 1/8600 0/4406
1 c.1835A>T r.(?) p.(Asp612Val) g.215609859T>A Copied from the Exome Variant Server BARD1_000029 1/13006 1/8600 0/4406
1 c.1838C>A r.(?) p.(Ala613Glu) g.215609856G>T Copied from the Exome Variant Server BARD1_000028 2/13006 0/8600 2/4406
1 c.1866T>C r.(=) p.(=) g.215609828A>G Copied from the Exome Variant Server BARD1_000027 1/13006 1/8600 0/4406
1 c.1882T>C r.(?) p.(Cys628Arg) g.215609812A>G Copied from the Exome Variant Server BARD1_000026 1/13006 0/8600 1/4406
1 c.1904-51T>G r.(=) p.(=) g.215595283A>C Copied from the Exome Variant Server BARD1_000025 3/13000 3/8598 0/4402
1 c.1904-45G>A r.(=) p.(=) g.215595277C>T Copied from the Exome Variant Server BARD1_000024 1/12998 1/8596 0/4402
1 c.1904-36A>T r.(=) p.(=) g.215595268T>A Copied from the Exome Variant Server BARD1_000023 1/13004 0/8600 1/4404
1 c.1904-32T>A r.(=) p.(=) g.215595264A>T Copied from the Exome Variant Server BARD1_000022 1/13004 0/8600 1/4404
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