Unique variants in gene GANAB

Information The variants shown are described using the NM_198334.1 transcript reference sequence.

203 entries on 3 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.-14A>G r.(=) p.(=) g.62414085T>C Copied from the Exome Variant Server GANAB_000203 2/12998 2/8596 0/4402
1 c.19G>C r.(?) p.(Val7Leu) g.62414053C>G Copied from the Exome Variant Server GANAB_000202 1/12994 1/8596 0/4398
1 c.38+17C>T r.(=) p.(=) g.62414017G>A Copied from the Exome Variant Server GANAB_000201 25/12962 23/8570 2/4392
1 c.38+22G>A r.(=) p.(=) g.62414012C>T Copied from the Exome Variant Server GANAB_000200 1/12958 0/8570 1/4388
1 c.39-26C>G r.(=) p.(=) g.62407229G>C Copied from the Exome Variant Server GANAB_000199 2/13002 1/8598 1/4404
1 c.75C>G r.(=) p.(=) g.62407167G>C Copied from the Exome Variant Server GANAB_000198 183/13002 2/8598 181/4404
1 c.135T>C r.(=) p.(=) g.62407107A>G Copied from the Exome Variant Server GANAB_000197 1/13002 1/8598 0/4404
1 c.143+4T>C r.spl? p.? g.62407095A>G Copied from the Exome Variant Server GANAB_000196 1/13002 1/8598 0/4404
1 c.143+10T>C r.(=) p.(=) g.62407089A>G Copied from the Exome Variant Server GANAB_000194 1/13002 0/8598 1/4404
1 c.143+23G>A r.(=) p.(=) g.62407076C>T Copied from the Exome Variant Server GANAB_000195 1/13002 1/8598 0/4404
1 c.143+24G>A r.(=) p.(=) g.62407075C>T Copied from the Exome Variant Server GANAB_000193 1/13002 1/8598 0/4404
1 c.144-47A>G r.(=) p.(=) g.62406986T>C Copied from the Exome Variant Server GANAB_000192 5/13002 5/8598 0/4404
1 c.180C>T r.(=) p.(=) g.62406903G>A Copied from the Exome Variant Server GANAB_000191 1/13002 0/8598 1/4404
1 c.220C>T r.(?) p.(Leu74Phe) g.62406863G>A Copied from the Exome Variant Server GANAB_000190 14/13002 0/8598 14/4404
1 c.223A>G r.(?) p.(Thr75Ala) g.62406860T>C Copied from the Exome Variant Server GANAB_000189 5/13002 0/8598 5/4404
1 c.249C>T r.(=) p.(=) g.62406834G>A Copied from the Exome Variant Server GANAB_000188 28/13002 0/8598 28/4404
1 c.252+22T>G r.(=) p.(=) g.62406809A>C Copied from the Exome Variant Server GANAB_000187 1/13002 0/8598 1/4404
1 c.252+32_252+33insG r.(=) p.(=) g.62406798_62406799insC Copied from the Exome Variant Server GANAB_000186 1/12518 1/8254 0/4264
1 c.262G>A r.(?) p.(Val88Met) g.62406573C>T Copied from the Exome Variant Server GANAB_000185 3/13002 3/8598 0/4404
1 c.304A>T r.(?) p.(Arg102Trp) g.62406531T>A Copied from the Exome Variant Server GANAB_000184 1/13002 0/8598 1/4404
1 c.329G>A r.(?) p.(Arg110Gln) g.62406506C>T Copied from the Exome Variant Server GANAB_000183 1/13002 0/8598 1/4404
1 c.332C>G r.(?) p.(Pro111Arg) g.62406503G>C Copied from the Exome Variant Server GANAB_000182 2/13002 0/8598 2/4404
1 c.367C>G r.(?) p.(Pro123Ala) g.62406468G>C Copied from the Exome Variant Server GANAB_000181 1/13002 1/8598 0/4404
1 c.380+13T>G r.(=) p.(=) g.62406442A>C Copied from the Exome Variant Server GANAB_000180 1/13002 1/8598 0/4404
1 c.380+15A>G r.(=) p.(=) g.62406440T>C Copied from the Exome Variant Server GANAB_000179 125/13002 0/8598 125/4404
1 c.380+26T>C r.(=) p.(=) g.62406429A>G Copied from the Exome Variant Server GANAB_000178 1/13002 0/8598 1/4404
1 c.381-51C>G r.(=) p.(=) g.62402523G>C Copied from the Exome Variant Server GANAB_000177 2/13002 2/8598 0/4404
1 c.381-32C>T r.(=) p.(=) g.62402504G>A Copied from the Exome Variant Server GANAB_000176 1/13002 0/8598 1/4404
1 c.381-19C>T r.(=) p.(=) g.62402491G>A Copied from the Exome Variant Server GANAB_000175 1/13002 1/8598 0/4404
1 c.381-10T>C r.(=) p.(=) g.62402482A>G Copied from the Exome Variant Server GANAB_000174 1/13002 1/8598 0/4404
1 c.386C>T r.(?) p.(Ser129Phe) g.62402467G>A Copied from the Exome Variant Server GANAB_000173 1/13002 1/8598 0/4404
1 c.390C>T r.(=) p.(=) g.62402463G>A Copied from the Exome Variant Server GANAB_000172 1/13002 1/8598 0/4404
1 c.411T>C r.(=) p.(=) g.62402442A>G Copied from the Exome Variant Server GANAB_000171 3/13002 0/8598 3/4404
1 c.428C>T r.(?) p.(Ala143Val) g.62402425G>A Copied from the Exome Variant Server GANAB_000170 1/13002 0/8598 1/4404
1 c.460C>T r.(?) p.(Arg154Trp) g.62402393G>A Copied from the Exome Variant Server GANAB_000169 2/13002 1/8598 1/4404
1 c.461G>A r.(?) p.(Arg154Gln) g.62402392C>T Copied from the Exome Variant Server GANAB_000168 3/13002 0/8598 3/4404
1 c.477C>T r.(=) p.(=) g.62402376G>A Copied from the Exome Variant Server GANAB_000167 2/13002 0/8598 2/4404
1 c.512A>G r.(?) p.(Asn171Ser) g.62402341T>C Copied from the Exome Variant Server GANAB_000166 1/13002 1/8598 0/4404
1 c.514G>A r.(?) p.(Ala172Thr) g.62402339C>T Copied from the Exome Variant Server GANAB_000165 2/13002 2/8598 0/4404
1 c.518G>A r.(?) p.(Arg173Gln) g.62402335C>T Copied from the Exome Variant Server GANAB_000164 1/13002 1/8598 0/4404
1 c.560+428C>T r.(=) p.(=) g.62401865G>A Copied from the Exome Variant Server GANAB_000163 1/11932 0/8202 1/3730
1 c.560+456A>G r.(=) p.(=) g.62401837T>C Copied from the Exome Variant Server GANAB_000162 1/11988 1/8234 0/3754
1 c.560+463A>G r.(=) p.(=) g.62401830T>C Copied from the Exome Variant Server GANAB_000161 4/12032 0/8238 4/3794
1 c.560+521T>C r.(=) p.(=) g.62401772A>G Copied from the Exome Variant Server GANAB_000160 1/12144 0/8264 1/3880
1 c.560+528C>T r.(=) p.(=) g.62401765G>A Copied from the Exome Variant Server GANAB_000159 2/12138 0/8258 2/3880
1 c.560+550C>T r.(=) p.(=) g.62401743G>A Copied from the Exome Variant Server GANAB_000158 51/12152 45/8258 6/3894
1 c.560+577T>C r.(=) p.(=) g.62401716A>G Copied from the Exome Variant Server GANAB_000157 4350/4566 3174/3182 1176/1384
1 c.561-29T>G r.(=) p.(=) g.62401015A>C Copied from the Exome Variant Server GANAB_000156 1/13002 1/8598 0/4404
1 c.561-7C>A r.(=) p.(=) g.62400993G>T Copied from the Exome Variant Server GANAB_000155 1/13002 1/8598 0/4404
1 c.598_599insC r.(?) p.(Gln200Profs*3) g.62400948_62400949insG Copied from the Exome Variant Server GANAB_000153 89/12518 55/8254 34/4264
1 c.598_599insCC r.(?) p.(Gln200Profs*68) g.62400948_62400949insGG Copied from the Exome Variant Server GANAB_000154 128/12518 84/8254 44/4264
1 c.630+21G>C r.(=) p.(=) g.62400896C>G Copied from the Exome Variant Server GANAB_000152 1/13002 1/8598 0/4404
1 c.630+44G>T r.(=) p.(=) g.62400873C>A Copied from the Exome Variant Server GANAB_000151 1/13002 0/8598 1/4404
1 c.630+47G>A r.(=) p.(=) g.62400870C>T Copied from the Exome Variant Server GANAB_000150 82/13002 0/8598 82/4404
1 c.631-18C>T r.(=) p.(=) g.62400761G>A Copied from the Exome Variant Server GANAB_000148 1/13002 0/8598 1/4404
1 c.691A>C r.(?) p.(Lys231Gln) g.62400683T>G Copied from the Exome Variant Server GANAB_000146 4/13002 0/8598 4/4404
1 c.714G>A r.(=) p.(=) g.62400660C>T Copied from the Exome Variant Server GANAB_000144 183/13002 2/8598 181/4404
1 c.718+17C>T r.(=) p.(=) g.62400639G>A Copied from the Exome Variant Server GANAB_000142 1/13002 1/8598 0/4404
1 c.719-29G>A r.(=) p.(=) g.62400602C>T Copied from the Exome Variant Server GANAB_000140 2/13002 1/8598 1/4404
1 c.744C>T r.(=) p.(=) g.62400548G>A Copied from the Exome Variant Server GANAB_000149 1/13002 0/8598 1/4404
1 c.813T>G r.(=) p.(=) g.62400479A>C Copied from the Exome Variant Server GANAB_000147 2/13002 0/8598 2/4404
1 c.815+3G>A r.spl? p.? g.62400474C>T Copied from the Exome Variant Server GANAB_000145 1/13002 1/8598 0/4404
1 c.815+37G>A r.(=) p.(=) g.62400440C>T Copied from the Exome Variant Server GANAB_000143 1/13002 0/8598 1/4404
1 c.816-21A>G r.(=) p.(=) g.62400238T>C Copied from the Exome Variant Server GANAB_000141 20/13002 2/8598 18/4404
1 c.852G>A r.(=) p.(=) g.62400181C>T Copied from the Exome Variant Server GANAB_000139 3/13002 0/8598 3/4404
1 c.885G>A r.(=) p.(=) g.62400148C>T Copied from the Exome Variant Server GANAB_000138 1/13002 0/8598 1/4404
1 c.910G>A r.(?) p.(Ala304Thr) g.62400123C>T Copied from the Exome Variant Server GANAB_000137 2/13002 2/8598 0/4404
1 c.917A>G r.(?) p.(Asn306Ser) g.62400116T>C Copied from the Exome Variant Server GANAB_000136 37/13002 34/8598 3/4404
1 c.920C>G r.(?) p.(Pro307Arg) g.62400113G>C Copied from the Exome Variant Server GANAB_000135 2/13002 2/8598 0/4404
1 c.925C>T r.(?) p.(Arg309Cys) g.62400108G>A Copied from the Exome Variant Server GANAB_000134 123/13002 57/8598 66/4404
1 c.926G>A r.(?) p.(Arg309His) g.62400107C>T Copied from the Exome Variant Server GANAB_000133 3/13002 3/8598 0/4404
1 c.973A>G r.(?) p.(Ile325Val) g.62400060T>C Copied from the Exome Variant Server GANAB_000132 1/13002 0/8598 1/4404
1 c.984C>T r.(=) p.(=) g.62400049G>A Copied from the Exome Variant Server GANAB_000131 1/13002 1/8598 0/4404
1 c.996+3G>A r.spl? p.? g.62400034C>T Copied from the Exome Variant Server GANAB_000130 1/13002 1/8598 0/4404
1 c.996+21A>G r.(=) p.(=) g.62400016T>C Copied from the Exome Variant Server GANAB_000129 4083/13002 3219/8598 864/4404
1 c.997-16G>A r.(=) p.(=) g.62398671C>T Copied from the Exome Variant Server GANAB_000128 1/13002 1/8598 0/4404
1 c.999C>G r.(=) p.(=) g.62398653G>C Copied from the Exome Variant Server GANAB_000127 1/13002 1/8598 0/4404
1 c.1026G>T r.(=) p.(=) g.62398626C>A Copied from the Exome Variant Server GANAB_000126 109/13002 104/8598 5/4404
1 c.1044C>G r.(=) p.(=) g.62398608G>C Copied from the Exome Variant Server GANAB_000125 1/13002 0/8598 1/4404
1 c.1062C>T r.(=) p.(=) g.62398590G>A Copied from the Exome Variant Server GANAB_000124 1/13002 1/8598 0/4404
1 c.1074G>A r.(=) p.(=) g.62398578C>T Copied from the Exome Variant Server GANAB_000123 1/13002 1/8598 0/4404
1 c.1135T>C r.(?) p.(Tyr379His) g.62398517A>G Copied from the Exome Variant Server GANAB_000122 1/13002 0/8598 1/4404
1 c.1150+43C>T r.(=) p.(=) g.62398459G>A Copied from the Exome Variant Server GANAB_000121 3/13002 2/8598 1/4404
1 c.1151-48T>A r.(=) p.(=) g.62398356A>T Copied from the Exome Variant Server GANAB_000120 1/13002 1/8598 0/4404
1 c.1185C>T r.(=) p.(=) g.62398274G>A Copied from the Exome Variant Server GANAB_000119 44/13002 41/8598 3/4404
1 c.1210C>T r.(?) p.(Arg404Trp) g.62398249G>A Copied from the Exome Variant Server GANAB_000118 2/13002 2/8598 0/4404
1 c.1215C>T r.(=) p.(=) g.62398244G>A Copied from the Exome Variant Server GANAB_000117 1/13002 1/8598 0/4404
1 c.1259A>G r.(?) p.(Asn420Ser) g.62398200T>C Copied from the Exome Variant Server GANAB_000116 9/13002 6/8598 3/4404
1 c.1299T>G r.(=) p.(=) g.62398160A>C Copied from the Exome Variant Server GANAB_000115 7/13002 6/8598 1/4404
1 c.1320C>T r.(=) p.(=) g.62398139G>A Copied from the Exome Variant Server GANAB_000114 56/13002 1/8598 55/4404
1 c.1335C>G r.(=) p.(=) g.62398124G>C Copied from the Exome Variant Server GANAB_000113 1/13002 1/8598 0/4404
1 c.1348C>T r.(?) p.(Arg450Cys) g.62398111G>A Copied from the Exome Variant Server GANAB_000112 1/13002 1/8598 0/4404
1 c.1364G>A r.(?) p.(Arg455His) g.62398095C>T Copied from the Exome Variant Server GANAB_000111 1/13002 0/8598 1/4404
1 c.1387-38C>T r.(=) p.(=) g.62398015G>A Copied from the Exome Variant Server GANAB_000110 2/13002 2/8598 0/4404
1 c.1398C>T r.(=) p.(=) g.62397966G>A Copied from the Exome Variant Server GANAB_000109 1/13002 1/8598 0/4404
1 c.1399G>A r.(?) p.(Val467Ile) g.62397965C>T Copied from the Exome Variant Server GANAB_000108 11/13002 10/8598 1/4404
1 c.1412T>C r.(?) p.(Ile471Thr) g.62397952A>G Copied from the Exome Variant Server GANAB_000107 1/13002 1/8598 0/4404
1 c.1419G>A r.(=) p.(=) g.62397945C>T Copied from the Exome Variant Server GANAB_000106 1/13002 0/8598 1/4404
1 c.1426G>A r.(?) p.(Gly476Ser) g.62397938C>T Copied from the Exome Variant Server GANAB_000105 1/13002 1/8598 0/4404
1 c.1428C>A r.(=) p.(=) g.62397936G>T Copied from the Exome Variant Server GANAB_000104 1/13002 0/8598 1/4404
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