Unique variants in gene AASS

Information The variants shown are described using the NM_005763.3 transcript reference sequence.

175 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.-15-22G>A r.(=) p.(=) g.121773817C>T Copied from the Exome Variant Server AASS_000175 1/13006 1/8600 0/4406
1 c.-15-16T>C r.(=) p.(=) g.121773811A>G Copied from the Exome Variant Server AASS_000174 4/13006 0/8600 4/4406
1 c.-2A>G r.(=) p.(=) g.121773782T>C Copied from the Exome Variant Server AASS_000173 59/13006 1/8600 58/4406
1 c.30C>T r.(=) p.(=) g.121773751G>A Copied from the Exome Variant Server AASS_000172 1/13006 0/8600 1/4406
1 c.36_37insTG r.(?) p.(Gly13Trpfs*22) g.121773744_121773745insCA Copied from the Exome Variant Server AASS_000171 1/12518 0/8254 1/4264
1 c.37G>C r.(?) p.(Gly13Arg) g.121773744C>G Copied from the Exome Variant Server AASS_000170 11/13006 9/8600 2/4406
1 c.81C>T r.(=) p.(=) g.121773700G>A Copied from the Exome Variant Server AASS_000169 2/13006 2/8600 0/4406
1 c.123G>A r.(=) p.(=) g.121773658C>T Copied from the Exome Variant Server AASS_000168 2/13006 2/8600 0/4406
1 c.168G>A r.(=) p.(=) g.121773613C>T Copied from the Exome Variant Server AASS_000166 3/13006 3/8600 0/4406
1 c.190C>T r.(?) p.(Arg64Trp) g.121773591G>A Copied from the Exome Variant Server AASS_000167 1/13006 1/8600 0/4406
1 c.191G>A r.(?) p.(Arg64Gln) g.121773590C>T Copied from the Exome Variant Server AASS_000165 1/13006 1/8600 0/4406
1 c.210+12C>T r.(=) p.(=) g.121773559G>A Copied from the Exome Variant Server AASS_000164 1/13006 0/8600 1/4406
1 c.210+30A>G r.(=) p.(=) g.121773541T>C Copied from the Exome Variant Server AASS_000163 1/13006 1/8600 0/4406
1 c.211-40_211-38del r.(=) p.(=) g.121769629_121769631del Copied from the Exome Variant Server AASS_000162 1/12492 1/8242 0/4250
1 c.272G>A r.(?) p.(Gly91Glu) g.121769530C>T Copied from the Exome Variant Server AASS_000161 1/13004 0/8600 1/4404
1 c.283C>A r.(?) p.(Pro95Thr) g.121769519G>T Copied from the Exome Variant Server AASS_000160 1/13004 1/8600 0/4404
1 c.318T>C r.(=) p.(=) g.121769484A>G Copied from the Exome Variant Server AASS_000159 3/13004 0/8600 3/4404
1 c.323T>C r.(?) p.(Phe108Ser) g.121769479A>G Copied from the Exome Variant Server AASS_000158 2/13004 2/8600 0/4404
1 c.351G>A r.(=) p.(=) g.121769451C>T Copied from the Exome Variant Server AASS_000157 1/13006 1/8600 0/4406
1 c.387+33G>A r.(=) p.(=) g.121769382C>T Copied from the Exome Variant Server AASS_000156 63/12182 2/8256 61/3926
1 c.388-33G>A r.(=) p.(=) g.121766546C>T Copied from the Exome Variant Server AASS_000155 1/13006 1/8600 0/4406
1 c.407A>G r.(?) p.(Tyr136Cys) g.121766494T>C Copied from the Exome Variant Server AASS_000154 1/13006 0/8600 1/4406
1 c.426T>C r.(=) p.(=) g.121766475A>G Copied from the Exome Variant Server AASS_000153 2/13006 0/8600 2/4406
1 c.436C>T r.(?) p.(Arg146Trp) g.121766465G>A Copied from the Exome Variant Server AASS_000152 1/13006 1/8600 0/4406
1 c.450T>G r.(?) p.(Phe150Leu) g.121766451A>C Copied from the Exome Variant Server AASS_000151 1/13006 0/8600 1/4406
1 c.472+7A>G r.(=) p.(=) g.121766422T>C Copied from the Exome Variant Server AASS_000150 3/13006 0/8600 3/4406
1 c.472+27C>T r.(=) p.(=) g.121766402G>A Copied from the Exome Variant Server AASS_000149 1/13006 0/8600 1/4406
1 c.473-57G>A r.(=) p.(=) g.121758741C>T Copied from the Exome Variant Server AASS_000148 17/4566 0/3182 17/1384
1 c.473-31T>C r.(=) p.(=) g.121758715A>G Copied from the Exome Variant Server AASS_000147 1/13006 0/8600 1/4406
1 c.489A>G r.(=) p.(=) g.121758668T>C Copied from the Exome Variant Server AASS_000146 1/13006 1/8600 0/4406
1 c.523C>T r.(?) p.(His175Tyr) g.121758634G>A Copied from the Exome Variant Server AASS_000145 1/13006 1/8600 0/4406
1 c.540+38del r.(=) p.(=) g.121758579del Copied from the Exome Variant Server AASS_000144 1/12518 0/8254 1/4264
1 c.541-46_541-45insA r.(=) p.(=) g.121758552_121758553insT Copied from the Exome Variant Server AASS_000143 3/12518 1/8254 2/4264
1 c.541-38C>T r.(=) p.(=) g.121758545G>A Copied from the Exome Variant Server AASS_000142 1/13006 0/8600 1/4406
1 c.541-27A>C r.(=) p.(=) g.121758534T>G Copied from the Exome Variant Server AASS_000141 1/13006 0/8600 1/4406
1 c.541-26del r.(=) p.(=) g.121758533del Copied from the Exome Variant Server AASS_000140 1/12518 0/8254 1/4264
1 c.541-25T>C r.(=) p.(=) g.121758532A>G Copied from the Exome Variant Server AASS_000139 1/13006 1/8600 0/4406
1 c.541-17T>C r.(=) p.(=) g.121758524A>G Copied from the Exome Variant Server AASS_000138 1/13006 0/8600 1/4406
1 c.595C>T r.(?) p.(Arg199Cys) g.121758453G>A Copied from the Exome Variant Server AASS_000137 1/13006 0/8600 1/4406
1 c.602C>T r.(?) p.(Ala201Val) g.121758446G>A Copied from the Exome Variant Server AASS_000136 2/13006 1/8600 1/4406
1 c.613A>T r.(?) p.(Ile205Leu) g.121758435T>A Copied from the Exome Variant Server AASS_000135 16/13006 15/8600 1/4406
1 c.687+22T>C r.(=) p.(=) g.121758339A>G Copied from the Exome Variant Server AASS_000134 1/13006 1/8600 0/4406
1 c.687+34T>C r.(=) p.(=) g.121758327A>G Copied from the Exome Variant Server AASS_000133 1/13006 0/8600 1/4406
1 c.688-15A>G r.(=) p.(=) g.121757026T>C Copied from the Exome Variant Server AASS_000132 1438/13004 599/8598 839/4406
1 c.711G>A r.(=) p.(=) g.121756988C>T Copied from the Exome Variant Server AASS_000131 1/13006 0/8600 1/4406
1 c.737A>G r.(?) p.(His246Arg) g.121756962T>C Copied from the Exome Variant Server AASS_000130 1/13006 0/8600 1/4406
1 c.741A>T r.(?) p.(Glu247Asp) g.121756958T>A Copied from the Exome Variant Server AASS_000129 1/13006 0/8600 1/4406
1 c.766+16T>C r.(=) p.(=) g.121756917A>G Copied from the Exome Variant Server AASS_000128 1/13006 1/8600 0/4406
1 c.766+18A>C r.(=) p.(=) g.121756915T>G Copied from the Exome Variant Server AASS_000127 1/13006 0/8600 1/4406
1 c.766+21_766+24del r.(=) p.(=) g.121756909_121756912del Copied from the Exome Variant Server AASS_000126 37/12516 27/8254 10/4262
1 c.766+37A>G r.(=) p.(=) g.121756896T>C Copied from the Exome Variant Server AASS_000125 2/13000 2/8596 0/4404
1 c.766+40A>G r.(=) p.(=) g.121756893T>C Copied from the Exome Variant Server AASS_000124 57/12998 0/8594 57/4404
1 c.766+44T>C r.(=) p.(=) g.121756889A>G Copied from the Exome Variant Server AASS_000123 5/13000 3/8596 2/4404
1 c.766+47G>A r.(=) p.(=) g.121756886C>T Copied from the Exome Variant Server AASS_000122 1/12998 1/8596 0/4402
1 c.830C>A r.(?) p.(Ala277Asp) g.121756751G>T Copied from the Exome Variant Server AASS_000120 2/13006 2/8600 0/4406
1 c.834G>A r.(=) p.(=) g.121756747C>T Copied from the Exome Variant Server AASS_000118 1/13006 1/8600 0/4406
1 c.894+17C>T r.(=) p.(=) g.121756670G>A Copied from the Exome Variant Server AASS_000116 67/13006 63/8600 4/4406
1 c.894+34T>A r.(=) p.(=) g.121756653A>T Copied from the Exome Variant Server AASS_000114 1/13006 1/8600 0/4406
1 c.894+51T>C r.(=) p.(=) g.121756636A>G Copied from the Exome Variant Server AASS_000112 1/13006 1/8600 0/4406
1 c.895-29T>G r.(=) p.(=) g.121755305A>C Copied from the Exome Variant Server AASS_000121 1/13006 1/8600 0/4406
1 c.895-6T>C r.(=) p.(=) g.121755282A>G Copied from the Exome Variant Server AASS_000119 1/13006 1/8600 0/4406
1 c.908C>T r.(?) p.(Thr303Ile) g.121755263G>A Copied from the Exome Variant Server AASS_000117 1/13006 0/8600 1/4406
1 c.945C>T r.(=) p.(=) g.121755226G>A Copied from the Exome Variant Server AASS_000115 4/13006 4/8600 0/4406
1 c.992C>T r.(?) p.(Pro331Leu) g.121755179G>A Copied from the Exome Variant Server AASS_000113 2/13006 1/8600 1/4406
1 c.1012G>A r.(?) p.(Gly338Ser) g.121755159C>T Copied from the Exome Variant Server AASS_000111 1/13006 0/8600 1/4406
1 c.1031C>T r.(?) p.(Ala344Val) g.121755140G>A Copied from the Exome Variant Server AASS_000110 1/13006 1/8600 0/4406
1 c.1035A>G r.(=) p.(=) g.121755136T>C Copied from the Exome Variant Server AASS_000109 1/13006 1/8600 0/4406
1 c.1044-25A>G r.(=) p.(=) g.121753799T>C Copied from the Exome Variant Server AASS_000108 2/13006 0/8600 2/4406
1 c.1044-8A>G r.(=) p.(=) g.121753782T>C Copied from the Exome Variant Server AASS_000107 1/13006 0/8600 1/4406
1 c.1107T>C r.(=) p.(=) g.121753711A>G Copied from the Exome Variant Server AASS_000106 29/13006 27/8600 2/4406
1 c.1167-30C>T r.(=) p.(=) g.121753313G>A Copied from the Exome Variant Server AASS_000105 1/13006 1/8600 0/4406
1 c.1179G>A r.(=) p.(=) g.121753271C>T Copied from the Exome Variant Server AASS_000104 2/13006 0/8600 2/4406
1 c.1212G>A r.(=) p.(=) g.121753238C>T Copied from the Exome Variant Server AASS_000103 3/13006 3/8600 0/4406
1 c.1278+30T>A r.(=) p.(=) g.121753142A>T Copied from the Exome Variant Server AASS_000102 1/13006 0/8600 1/4406
1 c.1278+44T>C r.(=) p.(=) g.121753128A>G Copied from the Exome Variant Server AASS_000101 1/13004 1/8598 0/4406
1 c.1279-14C>A r.(=) p.(=) g.121741748G>T Copied from the Exome Variant Server AASS_000100 1/13004 0/8598 1/4406
1 c.1290C>T r.(=) p.(=) g.121741723G>A Copied from the Exome Variant Server AASS_000099 2/13004 2/8598 0/4406
1 c.1293G>A r.(=) p.(=) g.121741720C>T Copied from the Exome Variant Server AASS_000098 111/13004 2/8598 109/4406
1 c.1315A>G r.(?) p.(Asn439Asp) g.121741698T>C Copied from the Exome Variant Server AASS_000097 1/13004 1/8600 0/4404
1 c.1338+6T>C r.(=) p.(=) g.121741669A>G Copied from the Exome Variant Server AASS_000096 1/13000 0/8594 1/4406
1 c.1338+13C>A r.(=) p.(=) g.121741662G>T Copied from the Exome Variant Server AASS_000095 56/13000 0/8594 56/4406
1 c.1338+25_1338+26insT r.(=) p.(=) g.121741649_121741650insA Copied from the Exome Variant Server AASS_000094 2/12504 1/8240 1/4264
1 c.1339-39G>A r.(=) p.(=) g.121741531C>T Copied from the Exome Variant Server AASS_000093 1/13002 1/8596 0/4406
1 c.1339-22G>A r.(=) p.(=) g.121741514C>T Copied from the Exome Variant Server AASS_000092 1/13002 0/8596 1/4406
1 c.1406+14A>C r.(=) p.(=) g.121741411T>G Copied from the Exome Variant Server AASS_000091 3/13002 0/8596 3/4406
1 c.1407-31_1407-30insCTT r.(=) p.(=) g.121738950_121738951insAAG Copied from the Exome Variant Server AASS_000090 876/11052 501/7520 375/3532
1 c.1407-9del r.(=) p.(=) g.121738929del Copied from the Exome Variant Server AASS_000089 826/8720 603/6040 223/2680
1 c.1407-9dup r.(=) p.(=) g.121738929dup Copied from the Exome Variant Server AASS_000088 664/8720 451/6040 213/2680
1 c.1407-9_1407-8del r.(=) p.(=) g.121738928_121738929del Copied from the Exome Variant Server AASS_000087 298/8720 220/6040 78/2680
1 c.1407-9_1407-8dup r.(=) p.(=) g.121738928_121738929dup Copied from the Exome Variant Server AASS_000086 1478/8720 950/6040 528/2680
1 c.1407-9_1407-7del r.(=) p.(=) g.121738927_121738929del Copied from the Exome Variant Server AASS_000085 162/8720 117/6040 45/2680
1 c.1434C>T r.(=) p.(=) g.121738893G>A Copied from the Exome Variant Server AASS_000084 1/13004 0/8598 1/4406
1 c.1437C>T r.(=) p.(=) g.121738890G>A Copied from the Exome Variant Server AASS_000083 2/13004 0/8598 2/4406
1 c.1454T>C r.(?) p.(Val485Ala) g.121738873A>G Copied from the Exome Variant Server AASS_000082 1/13004 1/8598 0/4406
1 c.1455T>A r.(=) p.(=) g.121738872A>T Copied from the Exome Variant Server AASS_000081 1/13004 1/8598 0/4406
1 c.1460G>A r.(?) p.(Gly487Glu) g.121738867C>T Copied from the Exome Variant Server AASS_000080 1/13004 1/8598 0/4406
1 c.1473A>G r.(?) p.(Ile491Met) g.121738854T>C Copied from the Exome Variant Server AASS_000079 4/13004 4/8598 0/4406
1 c.1479G>A r.(=) p.(=) g.121738848C>T Copied from the Exome Variant Server AASS_000078 1/13004 0/8598 1/4406
1 c.1497A>G r.(=) p.(=) g.121738830T>C Copied from the Exome Variant Server AASS_000077 1/13002 1/8596 0/4406
1 c.1528+15A>G r.(=) p.(=) g.121738784T>C Copied from the Exome Variant Server AASS_000076 2/12984 2/8586 0/4398
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