All transcript variants in gene GABRB3

Information The variants shown are described using the NM_000814.5 transcript reference sequence.

83 entries on 1 page. Showing entries 1 - 83.
Legend  

Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-806G>T r.(=) p.(=) g.27018915C>A Copied from the Exome Variant Server GABRB3_000083 5/12118 0/8036 5/4082
?/? c.-778C>G r.(=) p.(=) g.27018887G>C Copied from the Exome Variant Server GABRB3_000082 1/12644 1/8404 0/4240
?/? c.-732C>T r.(=) p.(=) g.27018841G>A Copied from the Exome Variant Server GABRB3_000081 50/12818 45/8520 5/4298
?/? c.-719C>T r.(=) p.(=) g.27018828G>A Copied from the Exome Variant Server GABRB3_000080 1/12798 1/8508 0/4290
?/? c.-688C>T r.(=) p.(=) g.27018797G>A Copied from the Exome Variant Server GABRB3_000079 1455/12638 1303/8384 152/4254
?/? c.-670C>A r.(=) p.(=) g.27018779G>T Copied from the Exome Variant Server GABRB3_000078 1/12498 1/8288 0/4210
?/? c.-665C>T r.(=) p.(=) g.27018774G>A Copied from the Exome Variant Server GABRB3_000077 1/12418 0/8228 1/4190
?/? c.48G>C r.(=) p.(=) g.27018062C>G Copied from the Exome Variant Server GABRB3_000076 1/12452 1/8280 0/4172
?/? c.80+11G>A r.(=) p.(=) g.27018019C>T Copied from the Exome Variant Server GABRB3_000075 1/12040 1/8000 0/4040
?/? c.156A>T r.(=) p.(=) g.27017844T>A Copied from the Exome Variant Server GABRB3_000074 1/13004 1/8600 0/4404
?/? c.172+26C>T r.(=) p.(=) g.27017802G>A Copied from the Exome Variant Server GABRB3_000073 7/12990 0/8596 7/4394
?/? c.172+52_172+54del r.(=) p.(=) g.27017774_27017776del Copied from the Exome Variant Server GABRB3_000072 71/11666 41/7678 30/3988
?/? c.231A>G r.(=) p.(=) g.27017558T>C Copied from the Exome Variant Server GABRB3_000071 5/13000 0/8600 5/4400
?/? c.240+13C>T r.(=) p.(=) g.27017536G>A Copied from the Exome Variant Server GABRB3_000070 1322/12994 1182/8600 140/4394
?/? c.240+27C>T r.(=) p.(=) g.27017522G>A Copied from the Exome Variant Server GABRB3_000069 1/12970 0/8588 1/4382
?/? c.240+33G>T r.(=) p.(=) g.27017516C>A Copied from the Exome Variant Server GABRB3_000068 1/12964 1/8586 0/4378
?/? c.240+36C>T r.(=) p.(=) g.27017513G>A Copied from the Exome Variant Server GABRB3_000067 2/12954 2/8584 0/4370
?/? c.241-28A>G r.(=) p.(=) g.26866709T>C Copied from the Exome Variant Server GABRB3_000066 4/13006 0/8600 4/4406
?/? c.241-23T>G r.(=) p.(=) g.26866704A>C Copied from the Exome Variant Server GABRB3_000065 1/13006 0/8600 1/4406
?/? c.255C>T r.(=) p.(=) g.26866667G>A Copied from the Exome Variant Server GABRB3_000064 2/13006 0/8600 2/4406
?/? c.321G>A r.(=) p.(=) g.26866601C>T Copied from the Exome Variant Server GABRB3_000063 1/13006 1/8600 0/4406
?/? c.357C>T r.(=) p.(=) g.26866565G>A Copied from the Exome Variant Server GABRB3_000062 1/13006 0/8600 1/4406
?/? c.405A>G r.(=) p.(=) g.26866517T>C Copied from the Exome Variant Server GABRB3_000061 1/13006 1/8600 0/4406
?/? c.461+17A>G r.(=) p.(=) g.26866444T>C Copied from the Exome Variant Server GABRB3_000060 1/13006 0/8600 1/4406
?/? c.461+22C>T r.(=) p.(=) g.26866439G>A Copied from the Exome Variant Server GABRB3_000059 1/13006 1/8600 0/4406
?/? c.461+45T>C r.(=) p.(=) g.26866416A>G Copied from the Exome Variant Server GABRB3_000058 1/13006 0/8600 1/4406
?/? c.462-58C>G r.(=) p.(=) g.26828619G>C Copied from the Exome Variant Server GABRB3_000057 1/4566 1/3182 0/1384
?/? c.462-41C>T r.(=) p.(=) g.26828602G>A Copied from the Exome Variant Server GABRB3_000056 1/13006 1/8600 0/4406
?/? c.471G>A r.(=) p.(=) g.26828552C>T Copied from the Exome Variant Server GABRB3_000055 4/13006 4/8600 0/4406
?/? c.513C>T r.(=) p.(=) g.26828510G>A Copied from the Exome Variant Server GABRB3_000054 2/13006 0/8600 2/4406
?/? c.544+3G>T r.spl? p.? g.26828476C>A Copied from the Exome Variant Server GABRB3_000053 2/13006 1/8600 1/4406
?/? c.544+10C>T r.(=) p.(=) g.26828469G>A Copied from the Exome Variant Server GABRB3_000052 1/13006 0/8600 1/4406
?/? c.544+27C>G r.(=) p.(=) g.26828452G>C Copied from the Exome Variant Server GABRB3_000050 2/13006 2/8600 0/4406
?/? c.544+32C>T r.(=) p.(=) g.26828447G>A Copied from the Exome Variant Server GABRB3_000051 14/13006 13/8600 1/4406
?/? c.545-48T>G r.(=) p.(=) g.26825651A>C Copied from the Exome Variant Server GABRB3_000049 2/13006 2/8600 0/4406
?/? c.581G>A r.(?) p.(Arg194Gln) g.26825567C>T Copied from the Exome Variant Server GABRB3_000048 1/13006 1/8600 0/4406
?/? c.589G>A r.(?) p.(Asp197Asn) g.26825559C>T Copied from the Exome Variant Server GABRB3_000047 1/13006 0/8600 1/4406
?/? c.598G>A r.(?) p.(Val200Ile) g.26825550C>T Copied from the Exome Variant Server GABRB3_000046 1/13006 1/8600 0/4406
?/? c.603C>T r.(=) p.(=) g.26825545G>A Copied from the Exome Variant Server GABRB3_000045 293/13006 18/8600 275/4406
?/? c.627G>A r.(=) p.(=) g.26825521C>T Copied from the Exome Variant Server GABRB3_000044 2/13006 2/8600 0/4406
?/? c.648C>T r.(=) p.(=) g.26825500G>A Copied from the Exome Variant Server GABRB3_000043 2/13006 1/8600 1/4406
?/? c.662G>A r.(?) p.(Arg221Lys) g.26825486C>T Copied from the Exome Variant Server GABRB3_000042 1/13006 0/8600 1/4406
?/? c.675C>T r.(=) p.(=) g.26825473G>A Copied from the Exome Variant Server GABRB3_000041 2/13006 2/8600 0/4406
?/? c.682+20A>G r.(=) p.(=) g.26825446T>C Copied from the Exome Variant Server GABRB3_000040 34/13006 32/8600 2/4406
?/? c.682+21T>C r.(=) p.(=) g.26825445A>G Copied from the Exome Variant Server GABRB3_000039 1/13006 0/8600 1/4406
?/? c.682+52G>A r.(=) p.(=) g.26825414C>T Copied from the Exome Variant Server GABRB3_000038 1/5734 0/3982 1/1752
?/? c.683-40G>C r.(=) p.(=) g.26812920C>G Copied from the Exome Variant Server GABRB3_000037 1/13006 0/8600 1/4406
?/? c.683-28G>A r.(=) p.(=) g.26812908C>T Copied from the Exome Variant Server GABRB3_000036 2/13006 2/8600 0/4406
?/? c.712C>T r.(?) p.(Arg238Trp) g.26812851G>A Copied from the Exome Variant Server GABRB3_000035 1/13006 0/8600 1/4406
?/? c.783G>A r.(=) p.(=) g.26812780C>T Copied from the Exome Variant Server GABRB3_000034 329/13006 291/8600 38/4406
?/? c.834C>T r.(=) p.(=) g.26812729G>A Copied from the Exome Variant Server GABRB3_000033 1/13006 1/8600 0/4406
?/? c.835+5G>A r.spl? p.? g.26812723C>T Copied from the Exome Variant Server GABRB3_000032 1/13006 0/8600 1/4406
?/? c.835+8C>T r.(=) p.(=) g.26812720G>A Copied from the Exome Variant Server GABRB3_000031 4/13006 0/8600 4/4406
?/? c.835+41C>T r.(=) p.(=) g.26812687G>A Copied from the Exome Variant Server GABRB3_000030 1/13006 0/8600 1/4406
?/? c.836-44A>T r.(=) p.(=) g.26806367T>A Copied from the Exome Variant Server GABRB3_000029 18/13006 17/8600 1/4406
?/? c.836-41T>G r.(=) p.(=) g.26806364A>C Copied from the Exome Variant Server GABRB3_000028 1/13006 1/8600 0/4406
?/? c.836-20C>T r.(=) p.(=) g.26806343G>A Copied from the Exome Variant Server GABRB3_000027 3/13006 3/8600 0/4406
?/? c.836-19del r.(=) p.(=) g.26806342del Copied from the Exome Variant Server GABRB3_000026 1/12512 1/8252 0/4260
?/? c.894C>T r.(=) p.(=) g.26806265G>A Copied from the Exome Variant Server GABRB3_000025 2/13006 0/8600 2/4406
?/? c.936C>T r.(=) p.(=) g.26806223G>A Copied from the Exome Variant Server GABRB3_000024 1/13006 1/8600 0/4406
?/? c.1005C>T r.(=) p.(=) g.26806154G>A Copied from the Exome Variant Server GABRB3_000023 138/13006 16/8600 122/4406
?/? c.1058G>A r.(?) p.(Arg353His) g.26806101C>T Copied from the Exome Variant Server GABRB3_000022 1/13006 1/8600 0/4406
?/? c.1059T>C r.(=) p.(=) g.26806100A>G Copied from the Exome Variant Server GABRB3_000021 1/13006 0/8600 1/4406
?/? c.1068C>T r.(=) p.(=) g.26806091G>A Copied from the Exome Variant Server GABRB3_000020 1/13006 0/8600 1/4406
?/? c.1080+15A>G r.(=) p.(=) g.26806064T>C Copied from the Exome Variant Server GABRB3_000019 4456/13006 2364/8600 2092/4406
?/? c.1081-48A>C r.(=) p.(=) g.26793329T>G Copied from the Exome Variant Server GABRB3_000018 2/13006 0/8600 2/4406
?/? c.1081-35G>C r.(=) p.(=) g.26793316C>G Copied from the Exome Variant Server GABRB3_000017 4/13006 0/8600 4/4406
?/? c.1081-31_1081-28del r.(=) p.(=) g.26793309_26793312del Copied from the Exome Variant Server GABRB3_000016 65/12518 1/8254 64/4264
?/? c.1081-11C>T r.(=) p.(=) g.26793292G>A Copied from the Exome Variant Server GABRB3_000015 1/13006 0/8600 1/4406
?/? c.1081-10G>A r.(=) p.(=) g.26793291C>T Copied from the Exome Variant Server GABRB3_000014 2/13006 1/8600 1/4406
?/? c.1113G>A r.(=) p.(=) g.26793249C>T Copied from the Exome Variant Server GABRB3_000013 3/13006 3/8600 0/4406
?/? c.1149C>T r.(=) p.(=) g.26793213G>A Copied from the Exome Variant Server GABRB3_000012 1/13006 1/8600 0/4406
?/? c.1158C>T r.(=) p.(=) g.26793204G>A Copied from the Exome Variant Server GABRB3_000011 4/13006 0/8600 4/4406
?/? c.1159G>A r.(?) p.(Asp387Asn) g.26793203C>T Copied from the Exome Variant Server GABRB3_000010 1/13006 0/8600 1/4406
?/? c.1177A>G r.(?) p.(Ile393Val) g.26793185T>C Copied from the Exome Variant Server GABRB3_000009 1/13006 0/8600 1/4406
?/? c.1241G>A r.(?) p.(Arg414Gln) g.26793121C>T Copied from the Exome Variant Server GABRB3_000008 1/13006 1/8600 0/4406
?/? c.1265C>T r.(?) p.(Pro422Leu) g.26793097G>A Copied from the Exome Variant Server GABRB3_000007 1/13006 0/8600 1/4406
?/? c.1266G>A r.(=) p.(=) g.26793096C>T Copied from the Exome Variant Server GABRB3_000006 1/13006 0/8600 1/4406
?/? c.1293G>A r.(=) p.(=) g.26793069C>T Copied from the Exome Variant Server GABRB3_000005 6/13006 6/8600 0/4406
?/? c.1296T>G r.(=) p.(=) g.26793066A>C Copied from the Exome Variant Server GABRB3_000004 1/13006 1/8600 0/4406
?/? c.1332T>C r.(=) p.(=) g.26793030A>G Copied from the Exome Variant Server GABRB3_000003 1/13006 1/8600 0/4406
?/? c.1338T>C r.(=) p.(=) g.26793024A>G Copied from the Exome Variant Server GABRB3_000002 1/13006 1/8600 0/4406
?/? c.1342A>G r.(?) p.(Ile448Val) g.26793020T>C Copied from the Exome Variant Server GABRB3_000001 1/13006 1/8600 0/4406
Legend