Unique variants in gene PYGL

Information The variants shown are described using the NM_001163940.1 transcript reference sequence.

197 entries on 2 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.-29_-18del r.(=) p.(=) g.51411139_51411150del Copied from the Exome Variant Server PYGL_000197 64/12406 4/8168 60/4238
1 c.-19_-8del r.(=) p.(=) g.51411129_51411140del Copied from the Exome Variant Server PYGL_000196 62/12356 4/8142 58/4214
1 c.30G>A r.(=) p.(=) g.51411092C>T Copied from the Exome Variant Server PYGL_000195 8/13006 0/8600 8/4406
1 c.79G>C r.(?) p.(Glu27Gln) g.51411043C>G Copied from the Exome Variant Server PYGL_000194 1/13006 0/8600 1/4406
1 c.93T>C r.(=) p.(=) g.51411029A>G Copied from the Exome Variant Server PYGL_000193 538/13006 347/8600 191/4406
1 c.132C>T r.(=) p.(=) g.51410990G>A Copied from the Exome Variant Server PYGL_000192 4/13006 4/8600 0/4406
1 c.147C>T r.(=) p.(=) g.51410975G>A Copied from the Exome Variant Server PYGL_000191 9/13006 8/8600 1/4406
1 c.153C>T r.(=) p.(=) g.51410969G>A Copied from the Exome Variant Server PYGL_000190 987/13006 310/8600 677/4406
1 c.166C>T r.(=) p.(=) g.51410956G>A Copied from the Exome Variant Server PYGL_000189 1/13006 0/8600 1/4406
1 c.176C>T r.(?) p.(Thr59Met) g.51410946G>A Copied from the Exome Variant Server PYGL_000188 66/13006 0/8600 66/4406
1 c.243+7G>C r.(=) p.(=) g.51410872C>G Copied from the Exome Variant Server PYGL_000187 1/12980 0/8584 1/4396
1 c.243+17C>A r.(=) p.(=) g.51410862G>T Copied from the Exome Variant Server PYGL_000186 1/12954 1/8562 0/4392
1 c.243+50T>A r.(=) p.(=) g.51410829A>T Copied from the Exome Variant Server PYGL_000185 5/12602 0/8334 5/4268
1 c.244-2686G>A r.(=) p.(=) g.51404589C>T Copied from the Exome Variant Server PYGL_000184 299/13006 150/8600 149/4406
1 c.244-2616C>T r.(=) p.(=) g.51404519G>A Copied from the Exome Variant Server PYGL_000183 1/13006 1/8600 0/4406
1 c.244-2543G>A r.(=) p.(=) g.51404446C>T Copied from the Exome Variant Server PYGL_000182 1/13006 0/8600 1/4406
1 c.244-23T>C r.(=) p.(=) g.51401926A>G Copied from the Exome Variant Server PYGL_000181 2/13006 1/8600 1/4406
1 c.262G>A r.(?) p.(Glu88Lys) g.51401885C>T Copied from the Exome Variant Server PYGL_000180 4/13006 4/8600 0/4406
1 c.322+6T>A r.(=) p.(=) g.51401819A>T Copied from the Exome Variant Server PYGL_000179 43/13006 1/8600 42/4406
1 c.322+9C>T r.(=) p.(=) g.51401816G>A Copied from the Exome Variant Server PYGL_000178 1/13006 1/8600 0/4406
1 c.322+10A>T r.(=) p.(=) g.51401815T>A Copied from the Exome Variant Server PYGL_000177 1/13006 1/8600 0/4406
1 c.322+39T>C r.(=) p.(=) g.51401786A>G Copied from the Exome Variant Server PYGL_000176 1/13006 1/8600 0/4406
1 c.322+53G>A r.(=) p.(=) g.51401772C>T Copied from the Exome Variant Server PYGL_000175 2/4566 2/3182 0/1384
1 c.323-41C>T r.(=) p.(=) g.51398535G>A Copied from the Exome Variant Server PYGL_000174 1/13006 1/8600 0/4406
1 c.323-33C>T r.(=) p.(=) g.51398527G>A Copied from the Exome Variant Server PYGL_000173 1/13006 1/8600 0/4406
1 c.323-27C>A r.(=) p.(=) g.51398521G>T Copied from the Exome Variant Server PYGL_000172 1/13006 0/8600 1/4406
1 c.372C>T r.(=) p.(=) g.51398445G>A Copied from the Exome Variant Server PYGL_000171 1/13006 0/8600 1/4406
1 c.373G>A r.(?) p.(Gly125Ser) g.51398444C>T Copied from the Exome Variant Server PYGL_000170 4/13006 0/8600 4/4406
1 c.380G>A r.(?) p.(Arg127Gln) g.51398437C>T Copied from the Exome Variant Server PYGL_000169 1/13006 1/8600 0/4406
1 c.401A>G r.(?) p.(Asn134Ser) g.51398416T>C Copied from the Exome Variant Server PYGL_000168 3/13006 3/8600 0/4406
1 c.426+9G>T r.(=) p.(=) g.51398382C>A Copied from the Exome Variant Server PYGL_000167 1/13006 0/8600 1/4406
1 c.427-23A>C r.(=) p.(=) g.51390841T>G Copied from the Exome Variant Server PYGL_000166 1/13006 1/8600 0/4406
1 c.427-22G>A r.(=) p.(=) g.51390840C>T Copied from the Exome Variant Server PYGL_000165 856/13006 318/8600 538/4406
1 c.427-11T>C r.(=) p.(=) g.51390829A>G Copied from the Exome Variant Server PYGL_000164 2/13006 1/8600 1/4406
1 c.490A>G r.(?) p.(Met164Val) g.51390755T>C Copied from the Exome Variant Server PYGL_000163 1/13006 1/8600 0/4406
1 c.501G>T r.(=) p.(=) g.51390744C>A Copied from the Exome Variant Server PYGL_000162 23/13006 19/8600 4/4406
1 c.509A>G r.(?) p.(Tyr170Cys) g.51390736T>C Copied from the Exome Variant Server PYGL_000161 31/13006 30/8600 1/4406
1 c.515A>G r.(?) p.(Lys172Arg) g.51390730T>C Copied from the Exome Variant Server PYGL_000160 1/13006 1/8600 0/4406
1 c.548T>C r.(?) p.(Ile183Thr) g.51390697A>G Copied from the Exome Variant Server PYGL_000159 1/13006 0/8600 1/4406
1 c.552C>T r.(=) p.(=) g.51390693G>A Copied from the Exome Variant Server PYGL_000157 1/13006 0/8600 1/4406
1 c.558+15C>T r.(=) p.(=) g.51390672G>A Copied from the Exome Variant Server PYGL_000156 1/13006 1/8600 0/4406
1 c.558+16G>A r.(=) p.(=) g.51390671C>T Copied from the Exome Variant Server PYGL_000154 2/13006 2/8600 0/4406
1 c.558+26C>T r.(=) p.(=) g.51390661G>A Copied from the Exome Variant Server PYGL_000158 1/13006 0/8600 1/4406
1 c.559-44A>G r.(=) p.(=) g.51387829T>C Copied from the Exome Variant Server PYGL_000155 1/13006 1/8600 0/4406
1 c.559-44_559-43insA r.(=) p.(=) g.51387828_51387829insT Copied from the Exome Variant Server PYGL_000153 1/12518 1/8254 0/4264
1 c.559-41C>T r.(=) p.(=) g.51387826G>A Copied from the Exome Variant Server PYGL_000152 1/13006 1/8600 0/4406
1 c.561G>A r.(=) p.(=) g.51387783C>T Copied from the Exome Variant Server PYGL_000151 2/13006 0/8600 2/4406
1 c.562G>A r.(?) p.(Val188Ile) g.51387782C>T Copied from the Exome Variant Server PYGL_000150 1365/13006 558/8600 807/4406
1 c.588C>T r.(=) p.(=) g.51387756G>A Copied from the Exome Variant Server PYGL_000149 1/13006 1/8600 0/4406
1 c.589G>A r.(?) p.(Val197Met) g.51387755C>T Copied from the Exome Variant Server PYGL_000148 3/13006 3/8600 0/4406
1 c.594C>T r.(=) p.(=) g.51387750G>A Copied from the Exome Variant Server PYGL_000147 1/13006 0/8600 1/4406
1 c.622A>G r.(?) p.(Met208Val) g.51387722T>C Copied from the Exome Variant Server PYGL_000146 1/13006 1/8600 0/4406
1 c.661C>T r.(?) p.(Leu221Phe) g.51387683G>A Copied from the Exome Variant Server PYGL_000145 1/13006 1/8600 0/4406
1 c.670+14A>G r.(=) p.(=) g.51387660T>C Copied from the Exome Variant Server PYGL_000144 1/13006 1/8600 0/4406
1 c.670+16G>T r.(=) p.(=) g.51387658C>A Copied from the Exome Variant Server PYGL_000143 237/13006 199/8600 38/4406
1 c.670+33C>T r.(=) p.(=) g.51387641G>A Copied from the Exome Variant Server PYGL_000142 3/13006 3/8600 0/4406
1 c.671-40G>T r.(=) p.(=) g.51387381C>A Copied from the Exome Variant Server PYGL_000141 8/13006 0/8600 8/4406
1 c.671-30C>G r.(=) p.(=) g.51387371G>C Copied from the Exome Variant Server PYGL_000140 2/13006 2/8600 0/4406
1 c.699G>A r.(=) p.(=) g.51387313C>T Copied from the Exome Variant Server PYGL_000139 1/13006 1/8600 0/4406
1 c.718G>A r.(?) p.(Glu240Lys) g.51387294C>T Copied from the Exome Variant Server PYGL_000138 1/13006 1/8600 0/4406
1 c.731G>A r.(?) p.(Arg244Gln) g.51387281C>T Copied from the Exome Variant Server PYGL_000137 1/13006 1/8600 0/4406
1 c.753+23T>G r.(=) p.(=) g.51387236A>C Copied from the Exome Variant Server PYGL_000136 1/13006 1/8600 0/4406
1 c.753+37G>A r.(=) p.(=) g.51387222C>T Copied from the Exome Variant Server PYGL_000135 43/13006 38/8600 5/4406
1 c.754-8G>A r.(=) p.(=) g.51383831C>T Copied from the Exome Variant Server PYGL_000134 2/13006 2/8600 0/4406
1 c.826C>T r.(?) p.(Arg276Cys) g.51383751G>A Copied from the Exome Variant Server PYGL_000133 99/13006 0/8600 99/4406
1 c.830G>T r.(?) p.(Arg277Leu) g.51383747C>A Copied from the Exome Variant Server PYGL_000132 1/13006 1/8600 0/4406
1 c.857C>T r.(?) p.(Thr286Ile) g.51383720G>A Copied from the Exome Variant Server PYGL_000131 1/13006 1/8600 0/4406
1 c.860G>A r.(?) p.(Arg287His) g.51383717C>T Copied from the Exome Variant Server PYGL_000130 138/13006 1/8600 137/4406
1 c.897+44_897+47del r.(=) p.(=) g.51383633_51383636del Copied from the Exome Variant Server PYGL_000129 7/12518 6/8254 1/4264
1 c.898-24A>C r.(=) p.(=) g.51383476T>G Copied from the Exome Variant Server PYGL_000128 1/13006 0/8600 1/4406
1 c.918C>T r.(=) p.(=) g.51383432G>A Copied from the Exome Variant Server PYGL_000127 1797/13006 1503/8600 294/4406
1 c.933C>T r.(=) p.(=) g.51383417G>A Copied from the Exome Variant Server PYGL_000126 1/13006 0/8600 1/4406
1 c.990+37C>G r.(=) p.(=) g.51383323G>C Copied from the Exome Variant Server PYGL_000125 1/13006 1/8600 0/4406
1 c.991-45G>A r.(=) p.(=) g.51382734C>T Copied from the Exome Variant Server PYGL_000124 1/13006 1/8600 0/4406
1 c.991-42C>A r.(=) p.(=) g.51382731G>T Copied from the Exome Variant Server PYGL_000123 1/13006 0/8600 1/4406
1 c.991-38C>T r.(=) p.(=) g.51382727G>A Copied from the Exome Variant Server PYGL_000122 1/13006 0/8600 1/4406
1 c.991-30G>A r.(=) p.(=) g.51382719C>T Copied from the Exome Variant Server PYGL_000121 4/13006 0/8600 4/4406
1 c.991-6C>A r.(=) p.(=) g.51382695G>T Copied from the Exome Variant Server PYGL_000120 81/13006 76/8600 5/4406
1 c.991-5C>G r.spl? p.? g.51382694G>C Copied from the Exome Variant Server PYGL_000119 2/13006 0/8600 2/4406
1 c.1017C>T r.(=) p.(=) g.51382663G>A Copied from the Exome Variant Server PYGL_000118 1/13006 0/8600 1/4406
1 c.1018G>A r.(?) p.(Ala340Thr) g.51382662C>T Copied from the Exome Variant Server PYGL_000117 2/13006 0/8600 2/4406
1 c.1024A>G r.(?) p.(Thr342Ala) g.51382656T>C Copied from the Exome Variant Server PYGL_000116 1/13006 1/8600 0/4406
1 c.1043C>T r.(?) p.(Pro348Leu) g.51382637G>A Copied from the Exome Variant Server PYGL_000115 63/13006 60/8600 3/4406
1 c.1065C>T r.(=) p.(=) g.51382615G>A Copied from the Exome Variant Server PYGL_000114 1/13006 1/8600 0/4406
1 c.1066G>A r.(?) p.(Val356Met) g.51382614C>T Copied from the Exome Variant Server PYGL_000113 2/13006 1/8600 1/4406
1 c.1094G>A r.(?) p.(Arg365Gln) g.51382586C>T Copied from the Exome Variant Server PYGL_000112 1/13006 1/8600 0/4406
1 c.1137+24T>C r.(=) p.(=) g.51382519A>G Copied from the Exome Variant Server PYGL_000111 1/13006 0/8600 1/4406
1 c.1137+29del r.(=) p.(=) g.51382514del Copied from the Exome Variant Server PYGL_000109 3/12518 2/8254 1/4264
1 c.1137+30C>T r.(=) p.(=) g.51382513G>A Copied from the Exome Variant Server PYGL_000107 2/13006 2/8600 0/4406
1 c.1137+34A>T r.(=) p.(=) g.51382509T>A Copied from the Exome Variant Server PYGL_000105 2/13006 0/8600 2/4406
1 c.1137+33_1137+38del r.(=) p.(=) g.51382505_51382510del Copied from the Exome Variant Server PYGL_000103 3/12518 3/8254 0/4264
1 c.1137+41G>T r.(=) p.(=) g.51382502C>A Copied from the Exome Variant Server PYGL_000101 1/13006 0/8600 1/4406
1 c.1137+47A>C r.(=) p.(=) g.51382496T>G Copied from the Exome Variant Server PYGL_000110 5/13006 0/8600 5/4406
1 c.1138-51T>C r.(=) p.(=) g.51382268A>G Copied from the Exome Variant Server PYGL_000108 24/13006 8/8600 16/4406
1 c.1138-32G>A r.(=) p.(=) g.51382249C>T Copied from the Exome Variant Server PYGL_000106 1/13006 0/8600 1/4406
1 c.1150T>C r.(=) p.(=) g.51382205A>G Copied from the Exome Variant Server PYGL_000104 4/13006 0/8600 4/4406
1 c.1162G>C r.(?) p.(Asp388His) g.51382193C>G Copied from the Exome Variant Server PYGL_000102 1/13006 0/8600 1/4406
1 c.1172G>A r.(?) p.(Arg391His) g.51382183C>T Copied from the Exome Variant Server PYGL_000100 8/13006 7/8600 1/4406
1 c.1176G>T r.(=) p.(=) g.51382179C>A Copied from the Exome Variant Server PYGL_000099 1/13006 1/8600 0/4406
1 c.1243G>A r.(?) p.(Gly415Ser) g.51382112C>T Copied from the Exome Variant Server PYGL_000098 3/13006 0/8600 3/4406
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