Unique variants in gene AASDH

Information The variants shown are described using the NM_181806.2 transcript reference sequence.

186 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.-42-10A>G r.(=) p.(=) g.57250517T>C Copied from the Exome Variant Server AASDH_000180 3/7272 3/4618 0/2654
1 c.-42-8A>G r.(=) p.(=) g.57250515T>C Copied from the Exome Variant Server AASDH_000178 1/13006 1/8600 0/4406
1 c.5C>T r.(?) p.(Thr2Ile) g.57250461G>A Copied from the Exome Variant Server AASDH_000186 1/13006 0/8600 1/4406
1 c.24T>A r.(?) p.(His8Gln) g.57250442A>T Copied from the Exome Variant Server AASDH_000185 15/13006 14/8600 1/4406
1 c.59T>C r.(?) p.(Val20Ala) g.57250407A>G Copied from the Exome Variant Server AASDH_000184 1/13006 0/8600 1/4406
1 c.139A>C r.(?) p.(Asn47His) g.57250327T>G Copied from the Exome Variant Server AASDH_000183 3/13006 2/8600 1/4406
1 c.181A>G r.(?) p.(Ile61Val) g.57250285T>C Copied from the Exome Variant Server AASDH_000182 237/13006 179/8600 58/4406
1 c.189C>A r.(=) p.(=) g.57250277G>T Copied from the Exome Variant Server AASDH_000181 1/13006 0/8600 1/4406
1 c.218C>A r.(?) p.(Ser73Tyr) g.57250248G>T Copied from the Exome Variant Server AASDH_000179 1/13006 0/8600 1/4406
1 c.230G>A r.(?) p.(Gly77Glu) g.57250236C>T Copied from the Exome Variant Server AASDH_000177 1/13006 0/8600 1/4406
1 c.230+23del r.(=) p.(=) g.57250213del Copied from the Exome Variant Server AASDH_000176 1/12518 1/8254 0/4264
1 c.231-49A>G r.(=) p.(=) g.57248812T>C Copied from the Exome Variant Server AASDH_000175 1/12958 1/8590 0/4368
1 c.231-27A>G r.(=) p.(=) g.57248790T>C Copied from the Exome Variant Server AASDH_000174 184/13000 4/8598 180/4402
1 c.231-6C>A r.(=) p.(=) g.57248769G>T Copied from the Exome Variant Server AASDH_000173 1/13002 1/8600 0/4402
1 c.239A>G r.(?) p.(Gln80Arg) g.57248755T>C Copied from the Exome Variant Server AASDH_000172 1/13004 1/8600 0/4404
1 c.245C>T r.(?) p.(Pro82Leu) g.57248749G>A Copied from the Exome Variant Server AASDH_000171 1/13004 1/8598 0/4406
1 c.252T>G r.(=) p.(=) g.57248742A>C Copied from the Exome Variant Server AASDH_000170 12/13006 12/8600 0/4406
1 c.265G>A r.(?) p.(Glu89Lys) g.57248729C>T Copied from the Exome Variant Server AASDH_000169 1/13006 1/8600 0/4406
1 c.267G>A r.(=) p.(=) g.57248727C>T Copied from the Exome Variant Server AASDH_000168 40/13006 3/8600 37/4406
1 c.278C>G r.(?) p.(Pro93Arg) g.57248716G>C Copied from the Exome Variant Server AASDH_000167 237/13006 179/8600 58/4406
1 c.280C>T r.(?) p.(Pro94Ser) g.57248714G>A Copied from the Exome Variant Server AASDH_000166 1/13006 1/8600 0/4406
1 c.282G>A r.(=) p.(=) g.57248712C>T Copied from the Exome Variant Server AASDH_000165 1/13006 0/8600 1/4406
1 c.335A>G r.(?) p.(Glu112Gly) g.57248659T>C Copied from the Exome Variant Server AASDH_000164 8/13006 7/8600 1/4406
1 c.342_343insA r.(?) p.(Gln115Thrfs*3) g.57248651_57248652insT Copied from the Exome Variant Server AASDH_000163 27/12520 17/8254 10/4266
1 c.351_351+4del N/A N/A g.57248639_57248643del Copied from the Exome Variant Server AASDH_000162 25/12520 24/8254 1/4266
1 c.351+34T>A r.(=) p.(=) g.57248609A>T Copied from the Exome Variant Server AASDH_000161 1/12994 1/8594 0/4400
1 c.351+50A>G r.(=) p.(=) g.57248593T>C Copied from the Exome Variant Server AASDH_000160 1/12960 0/8570 1/4390
1 c.351+52T>C r.(=) p.(=) g.57248591A>G Copied from the Exome Variant Server AASDH_000159 413/5686 378/3952 35/1734
1 c.353A>G r.(?) p.(Lys118Arg) g.57244629T>C Copied from the Exome Variant Server AASDH_000158 1/12996 0/8594 1/4402
1 c.383A>G r.(?) p.(Asn128Ser) g.57244599T>C Copied from the Exome Variant Server AASDH_000157 1/13006 1/8600 0/4406
1 c.399A>T r.(=) p.(=) g.57244583T>A Copied from the Exome Variant Server AASDH_000156 1/13006 1/8600 0/4406
1 c.402G>A r.(=) p.(=) g.57244580C>T Copied from the Exome Variant Server AASDH_000155 6/13006 6/8600 0/4406
1 c.470A>T r.(?) p.(Asp157Val) g.57244512T>A Copied from the Exome Variant Server AASDH_000154 10/13006 0/8600 10/4406
1 c.479A>G r.(?) p.(Glu160Gly) g.57244503T>C Copied from the Exome Variant Server AASDH_000153 1/13006 0/8600 1/4406
1 c.485_486del r.(?) p.(Tyr162*) g.57244496_57244497del Copied from the Exome Variant Server AASDH_000152 1/12520 0/8254 1/4266
1 c.502_508del r.(?) p.(Lys168*) g.57244474_57244480del Copied from the Exome Variant Server AASDH_000151 63/12520 50/8254 13/4266
1 c.533A>G r.(?) p.(Glu178Gly) g.57244449T>C Copied from the Exome Variant Server AASDH_000150 29/13006 0/8600 29/4406
1 c.544_546del r.(?) p.(Glu182del) g.57244436_57244438del Copied from the Exome Variant Server AASDH_000149 255/12520 15/8254 240/4266
1 c.568C>G r.(?) p.(His190Asp) g.57244414G>C Copied from the Exome Variant Server AASDH_000148 4/13006 3/8600 1/4406
1 c.590A>T r.(?) p.(His197Leu) g.57244392T>A Copied from the Exome Variant Server AASDH_000147 12/13006 12/8600 0/4406
1 c.600G>A r.(=) p.(=) g.57244382C>T Copied from the Exome Variant Server AASDH_000146 2/13006 2/8600 0/4406
1 c.608G>A r.(?) p.(Gly203Glu) g.57244374C>T Copied from the Exome Variant Server AASDH_000145 1/13006 1/8600 0/4406
1 c.620T>C r.(?) p.(Ile207Thr) g.57244362A>G Copied from the Exome Variant Server AASDH_000144 1/13006 0/8600 1/4406
1 c.635A>G r.(?) p.(His212Arg) g.57244347T>C Copied from the Exome Variant Server AASDH_000143 1/13006 0/8600 1/4406
1 c.668G>T r.(?) p.(Arg223Leu) g.57244314C>A Copied from the Exome Variant Server AASDH_000142 36/13006 35/8600 1/4406
1 c.669-41A>G r.(=) p.(=) g.57237850T>C Copied from the Exome Variant Server AASDH_000141 1/13006 1/8600 0/4406
1 c.669-33C>T r.(=) p.(=) g.57237842G>A Copied from the Exome Variant Server AASDH_000140 2/13006 2/8600 0/4406
1 c.672A>G r.(=) p.(=) g.57237806T>C Copied from the Exome Variant Server AASDH_000138 1/13006 1/8600 0/4406
1 c.680A>G r.(?) p.(Asp227Gly) g.57237798T>C Copied from the Exome Variant Server AASDH_000136 1/13006 1/8600 0/4406
1 c.726C>T r.(=) p.(=) g.57237752G>A Copied from the Exome Variant Server AASDH_000134 1/13006 0/8600 1/4406
1 c.756T>G r.(=) p.(=) g.57237722A>C Copied from the Exome Variant Server AASDH_000132 2/13006 2/8600 0/4406
1 c.765T>G r.(?) p.(Ser255Arg) g.57237713A>C Copied from the Exome Variant Server AASDH_000130 4/13006 4/8600 0/4406
1 c.789A>G r.(=) p.(=) g.57237689T>C Copied from the Exome Variant Server AASDH_000139 14/13006 8/8600 6/4406
1 c.790A>C r.(?) p.(Thr264Pro) g.57237688T>G Copied from the Exome Variant Server AASDH_000137 7/13006 0/8600 7/4406
1 c.795C>T r.(=) p.(=) g.57237683G>A Copied from the Exome Variant Server AASDH_000135 4948/13006 3664/8600 1284/4406
1 c.809C>T r.(?) p.(Pro270Leu) g.57237669G>A Copied from the Exome Variant Server AASDH_000133 1/13006 0/8600 1/4406
1 c.861+21A>G r.(=) p.(=) g.57237596T>C Copied from the Exome Variant Server AASDH_000131 1/13006 1/8600 0/4406
1 c.861+23G>A r.(=) p.(=) g.57237594C>T Copied from the Exome Variant Server AASDH_000129 1/13006 1/8600 0/4406
1 c.861+29T>C r.(=) p.(=) g.57237588A>G Copied from the Exome Variant Server AASDH_000128 1/13006 1/8600 0/4406
1 c.861+28_861+31del r.(=) p.(=) g.57237586_57237589del Copied from the Exome Variant Server AASDH_000127 1/12520 0/8254 1/4266
1 c.862-25T>C r.(=) p.(=) g.57221614A>G Copied from the Exome Variant Server AASDH_000126 134/13002 1/8596 133/4406
1 c.862-11T>C r.(=) p.(=) g.57221600A>G Copied from the Exome Variant Server AASDH_000125 10/13006 0/8600 10/4406
1 c.862-5T>C r.spl? p.? g.57221594A>G Copied from the Exome Variant Server AASDH_000124 1/13006 1/8600 0/4406
1 c.928A>G r.(?) p.(Thr310Ala) g.57221523T>C Copied from the Exome Variant Server AASDH_000123 1/13006 1/8600 0/4406
1 c.938G>A r.(?) p.(Arg313Gln) g.57221513C>T Copied from the Exome Variant Server AASDH_000122 1/13006 0/8600 1/4406
1 c.939A>C r.(=) p.(=) g.57221512T>G Copied from the Exome Variant Server AASDH_000121 2/13006 0/8600 2/4406
1 c.947C>A r.(?) p.(Ala316Asp) g.57221504G>T Copied from the Exome Variant Server AASDH_000120 1/13006 1/8600 0/4406
1 c.972A>G r.(=) p.(=) g.57221479T>C Copied from the Exome Variant Server AASDH_000119 1/13006 1/8600 0/4406
1 c.973T>C r.(=) p.(=) g.57221478A>G Copied from the Exome Variant Server AASDH_000118 1/13006 0/8600 1/4406
1 c.990C>T r.(=) p.(=) g.57221461G>A Copied from the Exome Variant Server AASDH_000117 1/13006 0/8600 1/4406
1 c.998G>C r.(?) p.(Gly333Ala) g.57221453C>G Copied from the Exome Variant Server AASDH_000116 3/13006 2/8600 1/4406
1 c.1075C>T r.(?) p.(Pro359Ser) g.57221376G>A Copied from the Exome Variant Server AASDH_000115 2/13006 1/8600 1/4406
1 c.1090_1094del r.(?) p.(Asn364Tyrfs*5) g.57221357_57221361del Copied from the Exome Variant Server AASDH_000114 1/12520 1/8254 0/4266
1 c.1103A>G r.(?) p.(Lys368Arg) g.57221348T>C Copied from the Exome Variant Server AASDH_000113 236/13006 178/8600 58/4406
1 c.1103+33G>T r.(=) p.(=) g.57221315C>A Copied from the Exome Variant Server AASDH_000112 8/13004 0/8600 8/4404
1 c.1104-16T>G r.(=) p.(=) g.57220993A>C Copied from the Exome Variant Server AASDH_000111 240/13006 3/8600 237/4406
1 c.1104A>T r.(?) p.(Lys368Asn) g.57220977T>A Copied from the Exome Variant Server AASDH_000110 1/13006 1/8600 0/4406
1 c.1174T>C r.(?) p.(Phe392Leu) g.57220907A>G Copied from the Exome Variant Server AASDH_000109 1/13006 1/8600 0/4406
1 c.1210+35_1210+36insT r.(=) p.(=) g.57220835_57220836insA Copied from the Exome Variant Server AASDH_000108 15/12514 7/8254 8/4260
1 c.1241A>G r.(?) p.(Asp414Gly) g.57220347T>C Copied from the Exome Variant Server AASDH_000107 6/13006 6/8600 0/4406
1 c.1244A>T r.(?) p.(Glu415Val) g.57220344T>A Copied from the Exome Variant Server AASDH_000106 2/13006 2/8600 0/4406
1 c.1335_1338del r.(?) p.(Ser445Argfs*37) g.57220250_57220253del Copied from the Exome Variant Server AASDH_000105 15/12520 12/8254 3/4266
1 c.1366A>G r.(?) p.(Ile456Val) g.57220222T>C Copied from the Exome Variant Server AASDH_000104 7/13004 5/8600 2/4404
1 c.1383+16T>C r.(=) p.(=) g.57220189A>G Copied from the Exome Variant Server AASDH_000103 1/13004 0/8600 1/4404
1 c.1383+17A>G r.(=) p.(=) g.57220188T>C Copied from the Exome Variant Server AASDH_000102 1/13004 1/8600 0/4404
1 c.1405G>A r.(?) p.(Val469Met) g.57219741C>T Copied from the Exome Variant Server AASDH_000101 1/13006 0/8600 1/4406
1 c.1409A>T r.(?) p.(Glu470Val) g.57219737T>A Copied from the Exome Variant Server AASDH_000100 1/13006 1/8600 0/4406
1 c.1530C>T r.(=) p.(=) g.57219616G>A Copied from the Exome Variant Server AASDH_000099 10/13006 0/8600 10/4406
1 c.1533G>A r.(=) p.(=) g.57219613C>T Copied from the Exome Variant Server AASDH_000098 2046/13006 1096/8600 950/4406
1 c.1551C>T r.(=) p.(=) g.57219595G>A Copied from the Exome Variant Server AASDH_000097 240/13006 3/8600 237/4406
1 c.1554C>T r.(=) p.(=) g.57219592G>A Copied from the Exome Variant Server AASDH_000096 8174/13006 5320/8600 2854/4406
1 c.1572C>T r.(=) p.(=) g.57219574G>A Copied from the Exome Variant Server AASDH_000095 1/13006 0/8600 1/4406
1 c.1575C>T r.(=) p.(=) g.57219571G>A Copied from the Exome Variant Server AASDH_000094 3/13006 3/8600 0/4406
1 c.1576+22A>C r.(=) p.(=) g.57219548T>G Copied from the Exome Variant Server AASDH_000093 1/13004 0/8600 1/4404
1 c.1576+41T>C r.(=) p.(=) g.57219529A>G Copied from the Exome Variant Server AASDH_000092 1/13006 0/8600 1/4406
1 c.1576+47T>C r.(=) p.(=) g.57219523A>G Copied from the Exome Variant Server AASDH_000091 5868/13006 4218/8600 1650/4406
1 c.1693-44T>C r.(=) p.(=) g.57216268A>G Copied from the Exome Variant Server AASDH_000089 7/11024 0/7486 7/3538
1 c.1777A>G r.(?) p.(Ile593Val) g.57216140T>C Copied from the Exome Variant Server AASDH_000087 1/12976 1/8596 0/4380
1 c.1798G>A r.(?) p.(Glu600Lys) g.57216119C>T Copied from the Exome Variant Server AASDH_000085 1/13004 0/8600 1/4404
1 c.1855A>G r.(?) p.(Ile619Val) g.57216062T>C Copied from the Exome Variant Server AASDH_000083 1/13006 1/8600 0/4406
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