All transcript variants in gene LMBRD1

Information The variants shown are described using the NM_018368.3 transcript reference sequence.

114 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     
?/? c.-46_-45insC r.(=) p.(=) g.70506818_70506819insG Copied from the Exome Variant Server LMBRD1_000114 87/12318 37/8118 50/4200
?/? c.-18T>A r.(=) p.(=) g.70506791A>T Copied from the Exome Variant Server LMBRD1_000113 42/13006 1/8600 41/4406
?/? c.18G>C r.(=) p.(=) g.70506756C>G Copied from the Exome Variant Server LMBRD1_000112 43/13006 1/8600 42/4406
?/? c.37A>G r.(?) p.(Ile13Val) g.70506737T>C Copied from the Exome Variant Server LMBRD1_000111 4/13004 0/8600 4/4404
?/? c.39C>T r.(=) p.(=) g.70506735G>A Copied from the Exome Variant Server LMBRD1_000110 2/13004 0/8600 2/4404
?/? c.46_54del r.(?) p.(Cys16_Phe18del) g.70506720_70506728del Copied from the Exome Variant Server LMBRD1_000109 7/12518 6/8254 1/4264
?/? c.69+10G>T r.(=) p.(=) g.70506695C>A Copied from the Exome Variant Server LMBRD1_000108 1/13004 1/8600 0/4404
?/? c.69+26C>T r.(=) p.(=) g.70506679G>A Copied from the Exome Variant Server LMBRD1_000107 1/13000 0/8600 1/4400
?/? c.70-23C>T r.(=) p.(=) g.70500387G>A Copied from the Exome Variant Server LMBRD1_000106 1/13006 1/8600 0/4406
?/? c.94T>C r.(?) p.(Tyr32His) g.70500340A>G Copied from the Exome Variant Server LMBRD1_000105 1/13006 1/8600 0/4406
?/? c.101G>A r.(?) p.(Arg34His) g.70500333C>T Copied from the Exome Variant Server LMBRD1_000104 4/13006 3/8600 1/4406
?/? c.183A>T r.(=) p.(=) g.70500251T>A Copied from the Exome Variant Server LMBRD1_000102 1/13006 1/8600 0/4406
?/? c.246+35T>C r.(=) p.(=) g.70500153A>G Copied from the Exome Variant Server LMBRD1_000100 6/12990 5/8592 1/4398
?/? c.247-65T>C r.(=) p.(=) g.70490511A>G Copied from the Exome Variant Server LMBRD1_000097 1489/4566 1254/3182 235/1384
?/? c.297C>T r.(=) p.(=) g.70490396G>A Copied from the Exome Variant Server LMBRD1_000103 2/13006 1/8600 1/4406
?/? c.307+13C>T r.(=) p.(=) g.70490373G>A Copied from the Exome Variant Server LMBRD1_000101 1/13006 1/8600 0/4406
?/? c.307+32G>A r.(=) p.(=) g.70490354C>T Copied from the Exome Variant Server LMBRD1_000099 1/13006 1/8600 0/4406
?/? c.307+55C>T r.(=) p.(=) g.70490331G>A Copied from the Exome Variant Server LMBRD1_000098 1/4566 0/3182 1/1384
?/? c.308-45T>C r.(=) p.(=) g.70462293A>G Copied from the Exome Variant Server LMBRD1_000096 2/12868 0/8498 2/4370
?/? c.308-44A>G r.(=) p.(=) g.70462292T>C Copied from the Exome Variant Server LMBRD1_000095 1/12872 1/8500 0/4372
?/? c.308-23C>T r.(=) p.(=) g.70462271G>A Copied from the Exome Variant Server LMBRD1_000094 11/12930 10/8544 1/4386
?/? c.348C>A r.(=) p.(=) g.70462208G>T Copied from the Exome Variant Server LMBRD1_000093 1/12972 1/8574 0/4398
?/? c.384T>C r.(=) p.(=) g.70462172A>G Copied from the Exome Variant Server LMBRD1_000092 1/12948 0/8558 1/4390
?/? c.405+8T>C r.(=) p.(=) g.70462143A>G Copied from the Exome Variant Server LMBRD1_000091 1/12908 1/8546 0/4362
?/? c.405+46_405+48del r.(=) p.(=) g.70462103_70462105del Copied from the Exome Variant Server LMBRD1_000090 25/12348 23/8150 2/4198
?/? c.406-41G>A r.(=) p.(=) g.70459341C>T Copied from the Exome Variant Server LMBRD1_000089 2/12998 0/8596 2/4402
?/? c.406-6A>C r.(=) p.(=) g.70459306T>G Copied from the Exome Variant Server LMBRD1_000088 2/13004 0/8598 2/4406
?/? c.418G>A r.(?) p.(Ala140Thr) g.70459288C>T Copied from the Exome Variant Server LMBRD1_000087 1/13000 0/8594 1/4406
?/? c.430A>G r.(?) p.(Thr144Ala) g.70459276T>C Copied from the Exome Variant Server LMBRD1_000086 4/13002 3/8596 1/4406
?/? c.473+23del r.(=) p.(=) g.70459210del Copied from the Exome Variant Server LMBRD1_000085 452/12506 287/8244 165/4262
?/? c.473+23dup r.(=) p.(=) g.70459210dup Copied from the Exome Variant Server LMBRD1_000084 81/12506 54/8244 27/4262
?/? c.473+62del r.(=) p.(=) g.70459171del Copied from the Exome Variant Server LMBRD1_000083 273/12356 119/8170 154/4186
?/? c.473+62dup r.(=) p.(=) g.70459171dup Copied from the Exome Variant Server LMBRD1_000082 690/12356 212/8170 478/4186
?/? c.473+62_473+63del r.(=) p.(=) g.70459170_70459171del Copied from the Exome Variant Server LMBRD1_000081 121/12362 11/8174 110/4188
?/? c.473+63del r.(=) p.(=) g.70459170del Copied from the Exome Variant Server LMBRD1_000080 1359/12362 76/8174 1283/4188
?/? c.473+63_473+64del r.(=) p.(=) g.70459169_70459170del Copied from the Exome Variant Server LMBRD1_000079 1118/12342 64/8166 1054/4176
?/? c.476C>T r.(?) p.(Ala159Val) g.70451767G>A Copied from the Exome Variant Server LMBRD1_000078 1/13002 1/8596 0/4406
?/? c.501T>C r.(=) p.(=) g.70451742A>G Copied from the Exome Variant Server LMBRD1_000077 1/13004 1/8598 0/4406
?/? c.509A>C r.(?) p.(Asn170Thr) g.70451734T>G Copied from the Exome Variant Server LMBRD1_000076 3/13004 0/8598 3/4406
?/? c.522G>C r.(?) p.(Trp174Cys) g.70451721C>G Copied from the Exome Variant Server LMBRD1_000075 1/13006 0/8600 1/4406
?/? c.540A>G r.(=) p.(=) g.70451703T>C Copied from the Exome Variant Server LMBRD1_000074 5/13006 0/8600 5/4406
?/? c.562+1G>C r.spl? p.? g.70451680C>G Copied from the Exome Variant Server LMBRD1_000073 1/12998 1/8594 0/4404
?/? c.562+18T>A r.(=) p.(=) g.70451663A>T Copied from the Exome Variant Server LMBRD1_000072 13/12986 0/8582 13/4404
?/? c.562+18_562+19insT r.(=) p.(=) g.70451662_70451663insA Copied from the Exome Variant Server LMBRD1_000071 12/12498 7/8236 5/4262
?/? c.562+31_562+33del r.(=) p.(=) g.70451648_70451650del Copied from the Exome Variant Server LMBRD1_000070 40/12480 20/8218 20/4262
?/? c.563-47T>C r.(=) p.(=) g.70447954A>G Copied from the Exome Variant Server LMBRD1_000069 2/12962 0/8576 2/4386
?/? c.563-45G>T r.(=) p.(=) g.70447952C>A Copied from the Exome Variant Server LMBRD1_000068 1/12968 0/8580 1/4388
?/? c.563-41A>G r.(=) p.(=) g.70447948T>C Copied from the Exome Variant Server LMBRD1_000067 26/12970 24/8582 2/4388
?/? c.563-28A>G r.(=) p.(=) g.70447935T>C Copied from the Exome Variant Server LMBRD1_000066 71/12992 65/8590 6/4402
?/? c.563-19A>G r.(=) p.(=) g.70447926T>C Copied from the Exome Variant Server LMBRD1_000065 1/12994 0/8594 1/4400
?/? c.636+14G>T r.(=) p.(=) g.70447820C>A Copied from the Exome Variant Server LMBRD1_000064 1/12994 1/8594 0/4400
?/? c.637-30T>C r.(=) p.(=) g.70429003A>G Copied from the Exome Variant Server LMBRD1_000062 20/13002 0/8598 20/4404
?/? c.679A>G r.(?) p.(Thr227Ala) g.70428931T>C Copied from the Exome Variant Server LMBRD1_000060 1/13006 1/8600 0/4406
?/? c.688G>A r.(?) p.(Ala230Thr) g.70428922C>T Copied from the Exome Variant Server LMBRD1_000058 2/13006 0/8600 2/4406
?/? c.694T>A r.(?) p.(Tyr232Asn) g.70428916A>T Copied from the Exome Variant Server LMBRD1_000056 1/13006 1/8600 0/4406
?/? c.721A>G r.(?) p.(Ile241Val) g.70428889T>C Copied from the Exome Variant Server LMBRD1_000055 3/13006 1/8600 2/4406
?/? c.749C>T r.(?) p.(Thr250Met) g.70428861G>A Copied from the Exome Variant Server LMBRD1_000053 1/13006 0/8600 1/4406
?/? c.762+1G>A r.spl? p.? g.70428847C>T Copied from the Exome Variant Server LMBRD1_000051 1/13006 1/8600 0/4406
?/? c.762+6T>G r.(=) p.(=) g.70428842A>C Copied from the Exome Variant Server LMBRD1_000048 1/13006 0/8600 1/4406
?/? c.763-50T>C r.(=) p.(=) g.70423739A>G Copied from the Exome Variant Server LMBRD1_000046 4476/12994 3432/8590 1044/4404
?/? c.800G>A r.(?) p.(Arg267His) g.70423652C>T Copied from the Exome Variant Server LMBRD1_000045 1/13006 1/8600 0/4406
?/? c.801C>T r.(=) p.(=) g.70423651G>A Copied from the Exome Variant Server LMBRD1_000043 159/13006 1/8600 158/4406
?/? c.802G>T r.(?) p.(Ala268Ser) g.70423650C>A Copied from the Exome Variant Server LMBRD1_000041 1/13006 1/8600 0/4406
?/? c.829C>G r.(?) p.(Arg277Gly) g.70423623G>C Copied from the Exome Variant Server LMBRD1_000039 1/13006 1/8600 0/4406
?/? c.869A>G r.(?) p.(Glu290Gly) g.70423583T>C Copied from the Exome Variant Server LMBRD1_000063 1/13006 0/8600 1/4406
?/? c.904C>T r.(?) p.(Arg302Cys) g.70423548G>A Copied from the Exome Variant Server LMBRD1_000061 2/13006 0/8600 2/4406
?/? c.905G>A r.(?) p.(Arg302His) g.70423547C>T Copied from the Exome Variant Server LMBRD1_000059 2/13006 2/8600 0/4406
?/? c.915+19A>G r.(=) p.(=) g.70423518T>C Copied from the Exome Variant Server LMBRD1_000057 1/13006 0/8600 1/4406
?/? c.915+42A>G r.(=) p.(=) g.70423495T>C Copied from the Exome Variant Server LMBRD1_000054 4/13004 0/8598 4/4406
?/? c.915+52G>C r.(=) p.(=) g.70423485C>G Copied from the Exome Variant Server LMBRD1_000052 1/5734 0/3982 1/1752
?/? c.916-42A>G r.(=) p.(=) g.70411887T>C Copied from the Exome Variant Server LMBRD1_000050 8/12786 0/8466 8/4320
?/? c.916-30A>G r.(=) p.(=) g.70411875T>C Copied from the Exome Variant Server LMBRD1_000049 1/12836 0/8496 1/4340
?/? c.916-15T>A r.(=) p.(=) g.70411860A>T Copied from the Exome Variant Server LMBRD1_000047 1/12940 1/8554 0/4386
?/? c.916-6T>G r.(=) p.(=) g.70411851A>C Copied from the Exome Variant Server LMBRD1_000044 1/12952 1/8560 0/4392
?/? c.964T>C r.(?) p.(Ser322Pro) g.70411797A>G Copied from the Exome Variant Server LMBRD1_000042 2/12978 1/8574 1/4404
?/? c.980+11T>C r.(=) p.(=) g.70411770A>G Copied from the Exome Variant Server LMBRD1_000040 259/12978 2/8574 257/4404
?/? c.980+45A>G r.(=) p.(=) g.70411736T>C Copied from the Exome Variant Server LMBRD1_000038 1/12958 1/8558 0/4400
?/? c.980+46T>C r.(=) p.(=) g.70411735A>G Copied from the Exome Variant Server LMBRD1_000037 1/12958 1/8558 0/4400
?/? c.981-3del r.spl? p.? g.70411440del Copied from the Exome Variant Server LMBRD1_000035 24/12384 14/8168 10/4216
?/? c.981-3dup r.spl? p.? g.70411440dup Copied from the Exome Variant Server LMBRD1_000033 38/12384 28/8168 10/4216
?/? c.1056del r.(?) p.(Asn353Ilefs*18) g.70411362del Copied from the Exome Variant Server LMBRD1_000031 9/12484 9/8230 0/4254
?/? c.1057A>G r.(?) p.(Asn353Asp) g.70411361T>C Copied from the Exome Variant Server LMBRD1_000029 1/12972 1/8576 0/4396
?/? c.1084-4del r.spl? p.? g.70410765del Copied from the Exome Variant Server LMBRD1_000027 114/10976 80/7422 34/3554
?/? c.1084-4dup r.spl? p.? g.70410765dup Copied from the Exome Variant Server LMBRD1_000026 147/10976 99/7422 48/3554
?/? c.1130T>C r.(?) p.(Phe377Ser) g.70410715A>G Copied from the Exome Variant Server LMBRD1_000023 6/12578 0/8374 6/4204
?/? c.1168A>G r.(?) p.(Ile390Val) g.70410677T>C Copied from the Exome Variant Server LMBRD1_000021 1/12752 0/8456 1/4296
?/? c.1188+29_1188+30insT r.(=) p.(=) g.70410627_70410628insA Copied from the Exome Variant Server LMBRD1_000019 8/11938 7/7916 1/4022
?/? c.1189-46A>C r.(=) p.(=) g.70409130T>G Copied from the Exome Variant Server LMBRD1_000017 11/12996 11/8590 0/4406
?/? c.1189-34T>C r.(=) p.(=) g.70409118A>G Copied from the Exome Variant Server LMBRD1_000015 4/13004 3/8598 1/4406
?/? c.1189-17C>T r.(=) p.(=) g.70409101G>A Copied from the Exome Variant Server LMBRD1_000036 1/13006 1/8600 0/4406
?/? c.1189-4C>G r.spl? p.? g.70409088G>C Copied from the Exome Variant Server LMBRD1_000034 1/13006 1/8600 0/4406
?/? c.1199T>C r.(?) p.(Ile400Thr) g.70409074A>G Copied from the Exome Variant Server LMBRD1_000032 8/13006 0/8600 8/4406
?/? c.1251_1252insT r.(?) p.(Leu418Serfs*8) g.70409021_70409022insA Copied from the Exome Variant Server LMBRD1_000030 1/12518 0/8254 1/4264
?/? c.1297C>T r.(?) p.(Pro433Ser) g.70408976G>A Copied from the Exome Variant Server LMBRD1_000028 1/13006 1/8600 0/4406
?/? c.1333A>G r.(?) p.(Ile445Val) g.70408940T>C Copied from the Exome Variant Server LMBRD1_000025 1/13004 1/8598 0/4406
?/? c.1338+2T>C r.spl? p.? g.70408933A>G Copied from the Exome Variant Server LMBRD1_000024 5/13004 0/8598 5/4406
?/? c.1338+47G>A r.(=) p.(=) g.70408888C>T Copied from the Exome Variant Server LMBRD1_000022 1/12882 0/8522 1/4360
?/? c.1343A>C r.(?) p.(Asn448Thr) g.70407529T>G Copied from the Exome Variant Server LMBRD1_000020 2/13004 2/8598 0/4406
?/? c.1407T>A r.(?) p.(Asp469Glu) g.70407465A>T Copied from the Exome Variant Server LMBRD1_000018 4118/13006 3437/8600 681/4406
?/? c.1418-33T>C r.(=) p.(=) g.70386466A>G Copied from the Exome Variant Server LMBRD1_000016 10/13004 0/8600 10/4404
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