Full data view for gene BRIP1

Information The variants shown are described using the NM_032043.2 transcript reference sequence.

161 entries on 2 pages. Showing entries 1 - 100.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     

Template     

Technique     

Disease     

Reference     

Remarks     

Panel size     

Owner     
?/? c.-30-3T>C r.spl? p.? g.59938933A>G Copied from the Exome Variant Server BRIP1_000161 2/13006 2/8600 0/4406 - - - - - - -
?/? c.-22C>A r.(=) p.(=) g.59938922G>T Copied from the Exome Variant Server BRIP1_000160 1/13004 1/8600 0/4404 - - - - - - -
?/? c.36G>T r.(=) p.(=) g.59938865C>A Copied from the Exome Variant Server BRIP1_000159 4/13006 4/8600 0/4406 - - - - - - -
?/? c.93+15G>A r.(=) p.(=) g.59938793C>T Copied from the Exome Variant Server BRIP1_000158 2/13004 0/8598 2/4406 - - - - - - -
?/? c.94-31T>C r.(=) p.(=) g.59937299A>G Copied from the Exome Variant Server BRIP1_000157 3/13006 3/8600 0/4406 - - - - - - -
?/? c.94-18T>G r.(=) p.(=) g.59937286A>C Copied from the Exome Variant Server BRIP1_000156 327/13006 3/8600 324/4406 - - - - - - -
?/? c.103G>A r.(?) p.(Gly35Arg) g.59937259C>T Copied from the Exome Variant Server BRIP1_000155 1/13006 0/8600 1/4406 - - - - - - -
?/? c.139C>G r.(?) p.(Pro47Ala) g.59937223G>C Copied from the Exome Variant Server BRIP1_000154 3/13006 3/8600 0/4406 - - - - - - -
?/? c.195A>G r.(=) p.(=) g.59937167T>C Copied from the Exome Variant Server BRIP1_000153 12/13006 0/8600 12/4406 - - - - - - -
?/? c.205G>A r.(?) p.(Gly69Arg) g.59937157C>T Copied from the Exome Variant Server BRIP1_000152 1/13006 1/8600 0/4406 - - - - - - -
?/? c.206-21T>C r.(=) p.(=) g.59934613A>G Copied from the Exome Variant Server BRIP1_000151 80/12992 0/8598 80/4394 - - - - - - -
?/? c.249A>G r.(=) p.(=) g.59934549T>C Copied from the Exome Variant Server BRIP1_000150 4/13006 3/8600 1/4406 - - - - - - -
?/? c.317G>A r.(?) p.(Arg106His) g.59934481C>T Copied from the Exome Variant Server BRIP1_000149 6/13006 0/8600 6/4406 - - - - - - -
?/? c.380-45A>G r.(=) p.(=) g.59926662T>C Copied from the Exome Variant Server BRIP1_000148 3/12950 0/8580 3/4370 - - - - - - -
?/? c.380-40_380-39insT r.(=) p.(=) g.59926656_59926657insA Copied from the Exome Variant Server BRIP1_000147 1/12456 1/8234 0/4222 - - - - - - -
?/? c.380-28G>A r.(=) p.(=) g.59926645C>T Copied from the Exome Variant Server BRIP1_000146 112/12990 102/8592 10/4398 - - - - - - -
?/? c.380-17_380-16insT r.(=) p.(=) g.59926633_59926634insA Copied from the Exome Variant Server BRIP1_000145 14/12488 7/8246 7/4242 - - - - - - -
?/? c.430G>A r.(?) p.(Ala144Thr) g.59926567C>T Copied from the Exome Variant Server BRIP1_000144 3/13006 0/8600 3/4406 - - - - - - -
?/? c.485G>T r.(?) p.(Arg162Leu) g.59926512C>A Copied from the Exome Variant Server BRIP1_000143 1/13004 0/8598 1/4406 - - - - - - -
?/? c.507+9_507+10del r.(=) p.(=) g.59926480_59926481del Copied from the Exome Variant Server BRIP1_000142 71/12518 46/8254 25/4264 - - - - - - -
?/? c.507+20A>C r.(=) p.(=) g.59926470T>G Copied from the Exome Variant Server BRIP1_000141 1/13006 1/8600 0/4406 - - - - - - -
?/? c.507+37G>A r.(=) p.(=) g.59926453C>T Copied from the Exome Variant Server BRIP1_000140 1/13006 1/8600 0/4406 - - - - - - -
?/? c.508-41T>G r.(=) p.(=) g.59924622A>C Copied from the Exome Variant Server BRIP1_000139 1/13006 1/8600 0/4406 - - - - - - -
?/? c.508-31C>G r.(=) p.(=) g.59924612G>C Copied from the Exome Variant Server BRIP1_000138 1681/13006 1355/8600 326/4406 - - - - - - -
?/? c.508-22C>A r.(=) p.(=) g.59924603G>T Copied from the Exome Variant Server BRIP1_000137 1/13006 0/8600 1/4406 - - - - - - -
?/? c.517C>T r.(?) p.(Arg173Cys) g.59924572G>A Copied from the Exome Variant Server BRIP1_000136 47/13006 42/8600 5/4406 - - - - - - -
?/? c.550G>T r.(?) p.(Asp184Tyr) g.59924539C>A Copied from the Exome Variant Server BRIP1_000135 1/13006 1/8600 0/4406 - - - - - - -
?/? c.577G>A r.(?) p.(Val193Ile) g.59924512C>T Copied from the Exome Variant Server BRIP1_000134 52/13004 48/8600 4/4404 - - - - - - -
?/? c.584T>C r.(?) p.(Leu195Pro) g.59924505A>G Copied from the Exome Variant Server BRIP1_000133 18/13004 16/8600 2/4404 - - - - - - -
?/? c.595C>T r.(=) p.(=) g.59924494G>A Copied from the Exome Variant Server BRIP1_000132 1/13004 0/8600 1/4404 - - - - - - -
?/? c.618G>A r.(=) p.(=) g.59924471C>T Copied from the Exome Variant Server BRIP1_000131 1/13004 1/8600 0/4404 - - - - - - -
?/? c.627+22C>T r.(=) p.(=) g.59924440G>A Copied from the Exome Variant Server BRIP1_000130 1/13004 1/8600 0/4404 - - - - - - -
?/? c.627+43T>C r.(=) p.(=) g.59924419A>G Copied from the Exome Variant Server BRIP1_000129 1/13004 1/8600 0/4404 - - - - - - -
?/? c.628-23A>G r.(=) p.(=) g.59886141T>C Copied from the Exome Variant Server BRIP1_000128 1/12998 1/8596 0/4402 - - - - - - -
?/? c.628-10T>A r.(=) p.(=) g.59886128A>T Copied from the Exome Variant Server BRIP1_000127 1/13004 1/8598 0/4406 - - - - - - -
?/? c.628C>T r.(?) p.(Pro210Ser) g.59886118G>A Copied from the Exome Variant Server BRIP1_000126 3/13004 0/8598 3/4406 - - - - - - -
?/? c.629C>T r.(?) p.(Pro210Leu) g.59886117G>A Copied from the Exome Variant Server BRIP1_000125 2/13004 0/8598 2/4406 - - - - - - -
?/? c.638A>G r.(?) p.(His213Arg) g.59886108T>C Copied from the Exome Variant Server BRIP1_000124 1/13006 1/8600 0/4406 - - - - - - -
?/? c.662C>G r.(?) p.(Thr221Ser) g.59886084G>C Copied from the Exome Variant Server BRIP1_000123 1/13006 0/8600 1/4406 - - - - - - -
?/? c.702G>A r.(=) p.(=) g.59886044C>T Copied from the Exome Variant Server BRIP1_000122 2/13006 1/8600 1/4406 - - - - - - -
?/? c.736A>G r.(?) p.(Ile246Val) g.59886010T>C Copied from the Exome Variant Server BRIP1_000121 1/13006 1/8600 0/4406 - - - - - - -
?/? c.790C>T r.(?) p.(Arg264Trp) g.59885956G>A Copied from the Exome Variant Server BRIP1_000120 12/13006 11/8600 1/4406 - - - - - - -
?/? c.852C>T r.(=) p.(=) g.59885894G>A Copied from the Exome Variant Server BRIP1_000119 3/13006 0/8600 3/4406 - - - - - - -
?/? c.854A>G r.(?) p.(His285Arg) g.59885892T>C Copied from the Exome Variant Server BRIP1_000118 2/13006 0/8600 2/4406 - - - - - - -
?/? c.867C>T r.(=) p.(=) g.59885879G>A Copied from the Exome Variant Server BRIP1_000117 1/13006 1/8600 0/4406 - - - - - - -
?/? c.868G>A r.(?) p.(Gly290Ser) g.59885878C>T Copied from the Exome Variant Server BRIP1_000116 1/13006 1/8600 0/4406 - - - - - - -
?/? c.869G>A r.(?) p.(Gly290Asp) g.59885877C>T Copied from the Exome Variant Server BRIP1_000115 1/13006 0/8600 1/4406 - - - - - - -
?/? c.890A>G r.(?) p.(Lys297Arg) g.59885856T>C Copied from the Exome Variant Server BRIP1_000114 17/13006 14/8600 3/4406 - - - - - - -
?/? c.919-27A>G r.(=) p.(=) g.59878862T>C Copied from the Exome Variant Server BRIP1_000113 2/12998 1/8596 1/4402 - - - - - - -
?/? c.1045G>C r.(?) p.(Ala349Pro) g.59878709C>G Copied from the Exome Variant Server BRIP1_000112 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1089C>T r.(=) p.(=) g.59878665G>A Copied from the Exome Variant Server BRIP1_000111 2/13006 0/8600 2/4406 - - - - - - -
?/? c.1140+11G>A r.(=) p.(=) g.59878603C>T Copied from the Exome Variant Server BRIP1_000110 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1140+39C>T r.(=) p.(=) g.59878575G>A Copied from the Exome Variant Server BRIP1_000109 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1141-51_1141-49del r.(=) p.(=) g.59876709_59876711del Copied from the Exome Variant Server BRIP1_000108 1/12400 1/8174 0/4226 - - - - - - -
?/? c.1141-32A>G r.(=) p.(=) g.59876692T>C Copied from the Exome Variant Server BRIP1_000107 1/12964 0/8574 1/4390 - - - - - - -
?/? c.1207C>T r.(?) p.(Arg403Trp) g.59876594G>A Copied from the Exome Variant Server BRIP1_000106 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1238T>C r.(?) p.(Val413Ala) g.59876563A>G Copied from the Exome Variant Server BRIP1_000105 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1240C>T r.(?) p.(Gln414*) g.59876561G>A Copied from the Exome Variant Server BRIP1_000104 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1255C>T r.(?) p.(Arg419Trp) g.59876546G>A Copied from the Exome Variant Server BRIP1_000103 3/13006 3/8600 0/4406 - - - - - - -
?/? c.1340+9A>G r.(=) p.(=) g.59876452T>C Copied from the Exome Variant Server BRIP1_000102 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1341-50G>T r.(=) p.(=) g.59871140C>A Copied from the Exome Variant Server BRIP1_000101 13/12990 0/8590 13/4400 - - - - - - -
?/? c.1444A>G r.(?) p.(Ile482Val) g.59870987T>C Copied from the Exome Variant Server BRIP1_000100 1/13002 1/8598 0/4404 - - - - - - -
?/? c.1473+19C>T r.(=) p.(=) g.59870939G>A Copied from the Exome Variant Server BRIP1_000099 1/12998 0/8594 1/4404 - - - - - - -
?/? c.1473+27C>G r.(=) p.(=) g.59870931G>C Copied from the Exome Variant Server BRIP1_000098 1/12994 1/8590 0/4404 - - - - - - -
?/? c.1474-30C>G r.(=) p.(=) g.59861815G>C Copied from the Exome Variant Server BRIP1_000097 1/12982 1/8588 0/4394 - - - - - - -
?/? c.1474-28C>G r.(=) p.(=) g.59861813G>C Copied from the Exome Variant Server BRIP1_000096 1/12984 1/8588 0/4396 - - - - - - -
?/? c.1485T>G r.(=) p.(=) g.59861774A>C Copied from the Exome Variant Server BRIP1_000095 1/12996 1/8590 0/4406 - - - - - - -
?/? c.1586G>A r.(?) p.(Gly529Glu) g.59861673C>T Copied from the Exome Variant Server BRIP1_000094 1/13000 0/8594 1/4406 - - - - - - -
?/? c.1619A>T r.(?) p.(Gln540Leu) g.59861640T>A Copied from the Exome Variant Server BRIP1_000093 1/13000 1/8594 0/4406 - - - - - - -
?/? c.1626C>T r.(=) p.(=) g.59861633G>A Copied from the Exome Variant Server BRIP1_000092 1/13000 1/8594 0/4406 - - - - - - -
?/? c.1628+39A>G r.(=) p.(=) g.59861592T>C Copied from the Exome Variant Server BRIP1_000091 1/13000 1/8594 0/4406 - - - - - - -
?/? c.1629-49A>G r.(=) p.(=) g.59858415T>C Copied from the Exome Variant Server BRIP1_000090 1/12998 1/8598 0/4400 - - - - - - -
?/? c.1629-11T>C r.(=) p.(=) g.59858377A>G Copied from the Exome Variant Server BRIP1_000089 2/13006 2/8600 0/4406 - - - - - - -
?/? c.1644T>C r.(=) p.(=) g.59858351A>G Copied from the Exome Variant Server BRIP1_000088 2/13006 0/8600 2/4406 - - - - - - -
?/? c.1652C>T r.(?) p.(Ala551Val) g.59858343G>A Copied from the Exome Variant Server BRIP1_000087 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1655T>C r.(?) p.(Ile552Thr) g.59858340A>G Copied from the Exome Variant Server BRIP1_000086 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1684A>G r.(?) p.(Ile562Val) g.59858311T>C Copied from the Exome Variant Server BRIP1_000085 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1695A>C r.(=) p.(=) g.59858300T>G Copied from the Exome Variant Server BRIP1_000084 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1706G>C r.(?) p.(Gly569Ala) g.59858289C>G Copied from the Exome Variant Server BRIP1_000083 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1710G>A r.(=) p.(=) g.59858285C>T Copied from the Exome Variant Server BRIP1_000082 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1721C>T r.(?) p.(Pro574Leu) g.59858274G>A Copied from the Exome Variant Server BRIP1_000081 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1735C>T r.(?) p.(Arg579Cys) g.59858260G>A Copied from the Exome Variant Server BRIP1_000080 3/13006 0/8600 3/4406 - - - - - - -
?/? c.1794+17A>G r.(=) p.(=) g.59858184T>C Copied from the Exome Variant Server BRIP1_000079 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1794+43T>C r.(=) p.(=) g.59858158A>G Copied from the Exome Variant Server BRIP1_000078 3/13006 3/8600 0/4406 - - - - - - -
?/? c.1795-47G>C r.(=) p.(=) g.59857809C>G Copied from the Exome Variant Server BRIP1_000077 10218/13002 6444/8598 3774/4404 - - - - - - -
?/? c.1800T>G r.(?) p.(Phe600Leu) g.59857757A>C Copied from the Exome Variant Server BRIP1_000076 1/13004 0/8598 1/4406 - - - - - - -
?/? c.1872G>A r.(=) p.(=) g.59857685C>T Copied from the Exome Variant Server BRIP1_000075 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1888_1889insA r.(?) p.(Thr630Asnfs*9) g.59857668_59857669insT Copied from the Exome Variant Server BRIP1_000074 1/12518 1/8254 0/4264 - - - - - - -
?/? c.1890A>G r.(=) p.(=) g.59857667T>C Copied from the Exome Variant Server BRIP1_000073 3/13006 0/8600 3/4406 - - - - - - -
?/? c.1935+11G>A r.(=) p.(=) g.59857611C>T Copied from the Exome Variant Server BRIP1_000072 7/13004 0/8598 7/4406 - - - - - - -
?/? c.1935+11_1935+13del r.(=) p.(=) g.59857609_59857611del Copied from the Exome Variant Server BRIP1_000071 30/12516 16/8252 14/4264 - - - - - - -
?/? c.1935+21del r.(=) p.(=) g.59857601del Copied from the Exome Variant Server BRIP1_000070 411/12514 258/8252 153/4262 - - - - - - -
?/? c.1935+21dup r.(=) p.(=) g.59857601dup Copied from the Exome Variant Server BRIP1_000069 697/12514 470/8252 227/4262 - - - - - - -
?/? c.1935+21_1935+22del r.(=) p.(=) g.59857600_59857601del Copied from the Exome Variant Server BRIP1_000068 274/12514 207/8252 67/4262 - - - - - - -
?/? c.1935+49A>G r.(=) p.(=) g.59857573T>C Copied from the Exome Variant Server BRIP1_000067 2/12974 0/8584 2/4390 - - - - - - -
?/? c.1936-44C>A r.(=) p.(=) g.59853967G>T Copied from the Exome Variant Server BRIP1_000066 63/13006 1/8600 62/4406 - - - - - - -
?/? c.1989C>A r.(=) p.(=) g.59853870G>T Copied from the Exome Variant Server BRIP1_000065 1/13006 1/8600 0/4406 - - - - - - -
?/? c.2039_2040insTT r.(?) p.(Leu680Phefs*9) g.59853819_59853820insAA Copied from the Exome Variant Server BRIP1_000064 1/12518 1/8254 0/4264 - - - - - - -
?/? c.2061G>C r.(=) p.(=) g.59853798C>G Copied from the Exome Variant Server BRIP1_000063 27/13006 0/8600 27/4406 - - - - - - -
?/? c.2087C>T r.(?) p.(Pro696Leu) g.59853772G>A Copied from the Exome Variant Server BRIP1_000062 1/13006 1/8600 0/4406 - - - - - - -
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