Unique variants in gene ABI3

Information The variants shown are described using the NM_016428.2 transcript reference sequence.

75 entries on 1 page. Showing entries 1 - 75.
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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.-35G>A r.(=) p.(=) g.47288052G>A Copied from the Exome Variant Server ABI3_000001 14/12768 0/8446 14/4322
1 c.13C>T r.(?) p.(Gln5*) g.47288099C>T Copied from the Exome Variant Server ABI3_000002 1/12816 1/8478 0/4338
1 c.46C>T r.(?) p.(Arg16Trp) g.47288132C>T Copied from the Exome Variant Server ABI3_000003 1/12866 1/8528 0/4338
1 c.66C>T r.(=) p.(=) g.47288152C>T Copied from the Exome Variant Server ABI3_000004 2/12874 2/8526 0/4348
1 c.100G>A r.(?) p.(Glu34Lys) g.47288186G>A Copied from the Exome Variant Server ABI3_000005 1/12866 1/8506 0/4360
1 c.117+39G>A r.(=) p.(=) g.47288242G>A Copied from the Exome Variant Server ABI3_000006 312/12356 4/8144 308/4212
1 c.118-45C>T r.(=) p.(=) g.47293848C>T Copied from the Exome Variant Server ABI3_000007 4339/12996 3015/8596 1324/4400
1 c.131G>A r.(?) p.(Arg44Gln) g.47293906G>A Copied from the Exome Variant Server ABI3_000008 554/13006 488/8600 66/4406
1 c.137C>T r.(?) p.(Ala46Val) g.47293912C>T Copied from the Exome Variant Server ABI3_000009 1/13006 0/8600 1/4406
1 c.209G>A r.(?) p.(Gly70Glu) g.47293984G>A Copied from the Exome Variant Server ABI3_000010 1/13002 1/8600 0/4402
1 c.225G>A r.(?) p.(Met75Ile) g.47294000G>A Copied from the Exome Variant Server ABI3_000011 3/13000 3/8596 0/4404
1 c.244G>A r.(?) p.(Ala82Thr) g.47294019G>A Copied from the Exome Variant Server ABI3_000012 1/13000 0/8598 1/4402
1 c.261A>G r.(=) p.(=) g.47294036A>G Copied from the Exome Variant Server ABI3_000013 182/12994 0/8596 182/4398
1 c.265C>T r.(?) p.(Arg89Cys) g.47294040C>T Copied from the Exome Variant Server ABI3_000014 1/12990 1/8594 0/4396
1 c.285+9C>T r.(=) p.(=) g.47294069C>T Copied from the Exome Variant Server ABI3_000015 221/12932 1/8556 220/4376
1 c.285+21G>A r.(=) p.(=) g.47294081G>A Copied from the Exome Variant Server ABI3_000016 3/12924 0/8552 3/4372
1 c.285+23A>G r.(=) p.(=) g.47294083A>G Copied from the Exome Variant Server ABI3_000017 2/12912 0/8548 2/4364
1 c.296T>C r.(?) p.(Met99Thr) g.47295111T>C Copied from the Exome Variant Server ABI3_000018 1/13006 1/8600 0/4406
1 c.315C>T r.(=) p.(=) g.47295130C>T Copied from the Exome Variant Server ABI3_000019 1/13006 1/8600 0/4406
1 c.347A>G r.(?) p.(Gln116Arg) g.47295162A>G Copied from the Exome Variant Server ABI3_000020 11/13006 10/8600 1/4406
1 c.350G>A r.(?) p.(Arg117Gln) g.47295165G>A Copied from the Exome Variant Server ABI3_000021 47/13006 1/8600 46/4406
1 c.353_354insG r.(?) p.(Pro119Alafs*169) g.47295168_47295169insG Copied from the Exome Variant Server ABI3_000022 75/12518 62/8254 13/4264
1 c.370G>A r.(?) p.(Val124Ile) g.47295185G>A Copied from the Exome Variant Server ABI3_000023 1/13006 0/8600 1/4406
1 c.457A>G r.(?) p.(Ile153Val) g.47295272A>G Copied from the Exome Variant Server ABI3_000024 1/13006 1/8600 0/4406
1 c.462+3A>C r.spl? p.? g.47295280A>C Copied from the Exome Variant Server ABI3_000025 1/13006 0/8600 1/4406
1 c.462+33C>T r.(=) p.(=) g.47295310C>T Copied from the Exome Variant Server ABI3_000026 1/13006 0/8600 1/4406
1 c.462+44G>A r.(=) p.(=) g.47295321G>A Copied from the Exome Variant Server ABI3_000027 6/13006 6/8600 0/4406
1 c.492C>T r.(=) p.(=) g.47296931C>T Copied from the Exome Variant Server ABI3_000028 25/13000 0/8596 25/4404
1 c.520_528del r.(?) p.(Thr176_Ala178del) g.47296959_47296967del Copied from the Exome Variant Server ABI3_000029 115/12504 4/8246 111/4258
1 c.522T>C r.(=) p.(=) g.47296961T>C Copied from the Exome Variant Server ABI3_000030 211/12998 0/8594 211/4404
1 c.548+10C>T r.(=) p.(=) g.47296997C>T Copied from the Exome Variant Server ABI3_000031 1/12978 1/8586 0/4392
1 c.548+34C>T r.(=) p.(=) g.47297021C>T Copied from the Exome Variant Server ABI3_000032 4/12910 0/8550 4/4360
1 c.548+41C>T r.(=) p.(=) g.47297028C>T Copied from the Exome Variant Server ABI3_000033 6/12872 0/8534 6/4338
1 c.548+45C>G r.(=) p.(=) g.47297032C>G Copied from the Exome Variant Server ABI3_000035 34/12816 0/8496 34/4320
1 c.549-11del r.(=) p.(=) g.47297209del Copied from the Exome Variant Server ABI3_000037 78/11992 52/7924 26/4068
1 c.623C>T r.(?) p.(Ala208Val) g.47297294C>T Copied from the Exome Variant Server ABI3_000039 3/12854 0/8508 3/4346
1 c.626T>C N/A N/A g.47297297T>C Copied from the Exome Variant Server ABI3_000034 12754/12844 8424/8498 4330/4346
1 c.644+34G>C r.(=) p.(=) g.47297349G>C Copied from the Exome Variant Server ABI3_000036 2/11866 2/7940 0/3926
1 c.645-26C>T r.(=) p.(=) g.47297505C>T Copied from the Exome Variant Server ABI3_000038 2/13006 2/8600 0/4406
1 c.645-18G>A r.(=) p.(=) g.47297513G>A Copied from the Exome Variant Server ABI3_000040 1/13006 1/8600 0/4406
1 c.645C>T r.(=) p.(=) g.47297531C>T Copied from the Exome Variant Server ABI3_000041 1/13006 0/8600 1/4406
1 c.651C>A r.(=) p.(=) g.47297537C>A Copied from the Exome Variant Server ABI3_000042 10/13006 6/8600 4/4406
1 c.651_652insGAAGGT r.(?) p.(Glu218_Gly219dup) g.47297537_47297538insGAAGGT Copied from the Exome Variant Server ABI3_000043 2/12518 1/8254 1/4264
1 c.661G>A r.(?) p.(Gly221Ser) g.47297547G>A Copied from the Exome Variant Server ABI3_000044 7/13002 7/8596 0/4406
1 c.666G>A r.(=) p.(=) g.47297552G>A Copied from the Exome Variant Server ABI3_000045 1/13004 0/8598 1/4406
1 c.676C>T r.(?) p.(Pro226Ser) g.47297562C>T Copied from the Exome Variant Server ABI3_000046 4/13002 4/8596 0/4406
1 c.682G>A r.(?) p.(Gly228Arg) g.47297568G>A Copied from the Exome Variant Server ABI3_000047 3/13002 0/8596 3/4406
1 c.712C>T r.(?) p.(Pro238Ser) g.47297598C>T Copied from the Exome Variant Server ABI3_000048 2/13004 2/8600 0/4404
1 c.719C>T r.(?) p.(Ser240Phe) g.47297605C>T Copied from the Exome Variant Server ABI3_000049 1/13002 1/8600 0/4402
1 c.731C>A r.(?) p.(Pro244His) g.47297617C>A Copied from the Exome Variant Server ABI3_000050 1/13002 0/8600 1/4402
1 c.750C>A r.(=) p.(=) g.47297636C>A Copied from the Exome Variant Server ABI3_000051 1/12994 1/8598 0/4396
1 c.771C>G r.(=) p.(=) g.47297657C>G Copied from the Exome Variant Server ABI3_000052 4/12988 4/8592 0/4396
1 c.802+7A>T r.(=) p.(=) g.47297695A>T Copied from the Exome Variant Server ABI3_000053 1/12960 0/8572 1/4388
1 c.803-48A>G r.(=) p.(=) g.47299405A>G Copied from the Exome Variant Server ABI3_000054 1/13006 0/8600 1/4406
1 c.803-21C>G r.(=) p.(=) g.47299432C>G Copied from the Exome Variant Server ABI3_000055 1/13006 1/8600 0/4406
1 c.804C>T r.(=) p.(=) g.47299454C>T Copied from the Exome Variant Server ABI3_000056 13/13006 0/8600 13/4406
1 c.828C>T r.(=) p.(=) g.47299478C>T Copied from the Exome Variant Server ABI3_000057 1/13006 1/8600 0/4406
1 c.838C>T r.(?) p.(Pro280Ser) g.47299488C>T Copied from the Exome Variant Server ABI3_000058 1/13006 1/8600 0/4406
1 c.844C>A r.(?) p.(Pro282Thr) g.47299494C>A Copied from the Exome Variant Server ABI3_000059 1/13006 0/8600 1/4406
1 c.851A>T r.(?) p.(Asp284Val) g.47299501A>T Copied from the Exome Variant Server ABI3_000060 4/13006 0/8600 4/4406
1 c.919G>T r.(?) p.(Ala307Ser) g.47299569G>T Copied from the Exome Variant Server ABI3_000061 2/13006 0/8600 2/4406
1 c.928T>G r.(?) p.(Leu310Val) g.47299578T>G Copied from the Exome Variant Server ABI3_000062 1/13006 0/8600 1/4406
1 c.930G>C r.(?) p.(Leu310Phe) g.47299580G>C Copied from the Exome Variant Server ABI3_000063 1/13006 0/8600 1/4406
1 c.937+29C>T r.(=) p.(=) g.47299616C>T Copied from the Exome Variant Server ABI3_000064 24/13006 0/8600 24/4406
1 c.937+30G>A r.(=) p.(=) g.47299617G>A Copied from the Exome Variant Server ABI3_000065 1/13006 1/8600 0/4406
1 c.938-44G>C r.(=) p.(=) g.47299870G>C Copied from the Exome Variant Server ABI3_000066 1/13006 1/8600 0/4406
1 c.938-38G>A r.(=) p.(=) g.47299876G>A Copied from the Exome Variant Server ABI3_000067 1/13006 1/8600 0/4406
1 c.943A>G r.(?) p.(Thr315Ala) g.47299919A>G Copied from the Exome Variant Server ABI3_000068 33/13006 30/8600 3/4406
1 c.954A>G r.(=) p.(=) g.47299930A>G Copied from the Exome Variant Server ABI3_000069 2/13006 2/8600 0/4406
1 c.1016G>A r.(?) p.(Arg339His) g.47299992G>A Copied from the Exome Variant Server ABI3_000070 2/13006 2/8600 0/4406
1 c.1026C>T r.(=) p.(=) g.47300002C>T Copied from the Exome Variant Server ABI3_000071 2/13006 2/8600 0/4406
1 c.1044C>T r.(=) p.(=) g.47300020C>T Copied from the Exome Variant Server ABI3_000072 1/13006 1/8600 0/4406
1 c.*4C>G r.(=) p.(=) g.47300081C>G Copied from the Exome Variant Server ABI3_000073 267/12952 243/8566 24/4386
1 c.*25G>T r.(=) p.(=) g.47300102G>T Copied from the Exome Variant Server ABI3_000074 1/12766 1/8426 0/4340
1 c.*35C>T r.(=) p.(=) g.47300112C>T Copied from the Exome Variant Server ABI3_000075 1/12600 0/8330 1/4270
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