All transcript variants in gene AMPH

Information The variants shown are described using the NM_001635.3 transcript reference sequence.

176 entries on 2 pages. Showing entries 1 - 100.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-69_-68insG r.(=) p.(=) g.38671019_38671020insC Copied from the Exome Variant Server AMPH_000176 76/11584 5/7662 71/3922
?/? c.-70_-59del r.(=) p.(=) g.38671010_38671021del Copied from the Exome Variant Server AMPH_000175 165/10726 7/7128 158/3598
?/? c.-22G>T r.(=) p.(=) g.38670973C>A Copied from the Exome Variant Server AMPH_000174 2/12690 2/8418 0/4272
?/? c.70-59G>A r.(=) p.(=) g.38574670C>T Copied from the Exome Variant Server AMPH_000173 16/4566 0/3182 16/1384
?/? c.95A>T r.(?) p.(Asp32Val) g.38574586T>A Copied from the Exome Variant Server AMPH_000172 1/13006 1/8600 0/4406
?/? c.138C>T r.(=) p.(=) g.38574543G>A Copied from the Exome Variant Server AMPH_000171 3/13006 2/8600 1/4406
?/? c.142C>T r.(?) p.(Arg48Trp) g.38574539G>A Copied from the Exome Variant Server AMPH_000170 25/13006 24/8600 1/4406
?/? c.150+10T>C r.(=) p.(=) g.38574521A>G Copied from the Exome Variant Server AMPH_000169 1/13006 0/8600 1/4406
?/? c.151-67G>A r.(=) p.(=) g.38543371C>T Copied from the Exome Variant Server AMPH_000168 4441/4566 3111/3182 1330/1384
?/? c.151-11G>C r.(=) p.(=) g.38543315C>G Copied from the Exome Variant Server AMPH_000167 1/13006 0/8600 1/4406
?/? c.151-10T>C r.(=) p.(=) g.38543314A>G Copied from the Exome Variant Server AMPH_000166 1/13006 1/8600 0/4406
?/? c.205+7T>G r.(=) p.(=) g.38543243A>C Copied from the Exome Variant Server AMPH_000165 1/13006 1/8600 0/4406
?/? c.206-26C>T r.(=) p.(=) g.38534153G>A Copied from the Exome Variant Server AMPH_000164 2/13006 1/8600 1/4406
?/? c.206-20T>C r.(=) p.(=) g.38534147A>G Copied from the Exome Variant Server AMPH_000163 1/13006 0/8600 1/4406
?/? c.206-19T>C r.(=) p.(=) g.38534146A>G Copied from the Exome Variant Server AMPH_000162 1/13006 1/8600 0/4406
?/? c.206-18G>A r.(=) p.(=) g.38534145C>T Copied from the Exome Variant Server AMPH_000161 1/13006 0/8600 1/4406
?/? c.206-15T>C r.(=) p.(=) g.38534142A>G Copied from the Exome Variant Server AMPH_000160 77/13006 1/8600 76/4406
?/? c.237G>A r.(=) p.(=) g.38534096C>T Copied from the Exome Variant Server AMPH_000159 2/13006 1/8600 1/4406
?/? c.275G>A r.(?) p.(Arg92Gln) g.38534058C>T Copied from the Exome Variant Server AMPH_000158 1/13006 1/8600 0/4406
?/? c.300+6A>T r.(=) p.(=) g.38534027T>A Copied from the Exome Variant Server AMPH_000157 23/13006 23/8600 0/4406
?/? c.396+40G>A r.(=) p.(=) g.38530610C>T Copied from the Exome Variant Server AMPH_000156 112/13006 1/8600 111/4406
?/? c.396+49G>A r.(=) p.(=) g.38530601C>T Copied from the Exome Variant Server AMPH_000155 4/13006 0/8600 4/4406
?/? c.396+51T>G r.(=) p.(=) g.38530599A>C Copied from the Exome Variant Server AMPH_000154 2/13006 0/8600 2/4406
?/? c.397-4A>T r.spl? p.? g.38516573T>A Copied from the Exome Variant Server AMPH_000153 1/13006 1/8600 0/4406
?/? c.397A>C r.(?) p.(Asn133His) g.38516569T>G Copied from the Exome Variant Server AMPH_000152 1/13006 0/8600 1/4406
?/? c.400C>T r.(?) p.(Arg134Cys) g.38516566G>A Copied from the Exome Variant Server AMPH_000151 1/13006 1/8600 0/4406
?/? c.409A>C r.(?) p.(Lys137Gln) g.38516557T>G Copied from the Exome Variant Server AMPH_000150 1/13006 1/8600 0/4406
?/? c.413G>A r.(?) p.(Arg138His) g.38516553C>T Copied from the Exome Variant Server AMPH_000149 1/13006 1/8600 0/4406
?/? c.458A>T r.(?) p.(Glu153Val) g.38516508T>A Copied from the Exome Variant Server AMPH_000148 1/13006 0/8600 1/4406
?/? c.500C>G r.(?) p.(Ser167Cys) g.38516466G>C Copied from the Exome Variant Server AMPH_000147 1/13006 1/8600 0/4406
?/? c.504+14C>A r.(=) p.(=) g.38516448G>T Copied from the Exome Variant Server AMPH_000146 328/13006 282/8600 46/4406
?/? c.504+16A>G r.(=) p.(=) g.38516446T>C Copied from the Exome Variant Server AMPH_000145 172/13006 1/8600 171/4406
?/? c.504+27C>T r.(=) p.(=) g.38516435G>A Copied from the Exome Variant Server AMPH_000144 3/13006 0/8600 3/4406
?/? c.504+34C>T r.(=) p.(=) g.38516428G>A Copied from the Exome Variant Server AMPH_000142 1/13006 0/8600 1/4406
?/? c.505-22A>G r.(=) p.(=) g.38515038T>C Copied from the Exome Variant Server AMPH_000140 1/13002 0/8600 1/4402
?/? c.505-20_505-19del r.(=) p.(=) g.38515035_38515036del Copied from the Exome Variant Server AMPH_000138 1/12514 1/8254 0/4260
?/? c.505-12T>G r.(=) p.(=) g.38515028A>C Copied from the Exome Variant Server AMPH_000137 1/13002 0/8600 1/4402
?/? c.505-8A>G r.(=) p.(=) g.38515024T>C Copied from the Exome Variant Server AMPH_000135 10/13002 0/8600 10/4402
?/? c.552C>T r.(=) p.(=) g.38514969G>A Copied from the Exome Variant Server AMPH_000132 2/13000 2/8596 0/4404
?/? c.553G>A r.(?) p.(Val185Ile) g.38514968C>T Copied from the Exome Variant Server AMPH_000130 2/13000 1/8596 1/4404
?/? c.590+15C>G r.(=) p.(=) g.38514916G>C Copied from the Exome Variant Server AMPH_000143 1/12998 1/8598 0/4400
?/? c.590+22T>C r.(=) p.(=) g.38514909A>G Copied from the Exome Variant Server AMPH_000141 5/12998 0/8596 5/4402
?/? c.591-21C>T r.(=) p.(=) g.38505869G>A Copied from the Exome Variant Server AMPH_000139 4/13006 0/8600 4/4406
?/? c.620A>T r.(?) p.(Lys207Ile) g.38505819T>A Copied from the Exome Variant Server AMPH_000136 1/13006 1/8600 0/4406
?/? c.624C>T r.(=) p.(=) g.38505815G>A Copied from the Exome Variant Server AMPH_000134 1/13006 1/8600 0/4406
?/? c.650A>G r.(?) p.(His217Arg) g.38505789T>C Copied from the Exome Variant Server AMPH_000133 2/13006 2/8600 0/4406
?/? c.666+12C>T r.(=) p.(=) g.38505761G>A Copied from the Exome Variant Server AMPH_000131 1/13006 1/8600 0/4406
?/? c.666+49G>A r.(=) p.(=) g.38505724C>T Copied from the Exome Variant Server AMPH_000129 2/13006 0/8600 2/4406
?/? c.666+61A>C r.(=) p.(=) g.38505712T>G Copied from the Exome Variant Server AMPH_000128 985/4566 476/3182 509/1384
?/? c.667-19G>A r.(=) p.(=) g.38505168C>T Copied from the Exome Variant Server AMPH_000127 1/12998 0/8596 1/4402
?/? c.712C>T r.(?) p.(His238Tyr) g.38505104G>A Copied from the Exome Variant Server AMPH_000126 1/13002 1/8596 0/4406
?/? c.714C>T r.(=) p.(=) g.38505102G>A Copied from the Exome Variant Server AMPH_000125 13/13002 11/8596 2/4406
?/? c.729C>T r.(=) p.(=) g.38505087G>A Copied from the Exome Variant Server AMPH_000124 1/13000 1/8598 0/4402
?/? c.743C>T r.(?) p.(Ala248Val) g.38505073G>A Copied from the Exome Variant Server AMPH_000123 1/13004 1/8600 0/4404
?/? c.749+3A>T r.spl? p.? g.38505064T>A Copied from the Exome Variant Server AMPH_000122 1/13006 0/8600 1/4406
?/? c.749+27G>A r.(=) p.(=) g.38505040C>T Copied from the Exome Variant Server AMPH_000121 1/12976 0/8588 1/4388
?/? c.749+42C>T r.(=) p.(=) g.38505025G>A Copied from the Exome Variant Server AMPH_000120 7957/12874 4799/8518 3158/4356
?/? c.749+53T>G r.(=) p.(=) g.38505014A>C Copied from the Exome Variant Server AMPH_000119 1427/4566 886/3182 541/1384
?/? c.750-40C>G r.(=) p.(=) g.38502753G>C Copied from the Exome Variant Server AMPH_000118 24/13006 0/8600 24/4406
?/? c.750-21C>T r.(=) p.(=) g.38502734G>A Copied from the Exome Variant Server AMPH_000117 3/13006 3/8600 0/4406
?/? c.750-18T>C r.(=) p.(=) g.38502731A>G Copied from the Exome Variant Server AMPH_000116 18/13006 16/8600 2/4406
?/? c.750T>A r.(?) p.(Ser250Arg) g.38502713A>T Copied from the Exome Variant Server AMPH_000115 1/13006 1/8600 0/4406
?/? c.756G>A r.(=) p.(=) g.38502707C>T Copied from the Exome Variant Server AMPH_000114 1/13006 1/8600 0/4406
?/? c.780A>G r.(=) p.(=) g.38502683T>C Copied from the Exome Variant Server AMPH_000113 4/13006 4/8600 0/4406
?/? c.783A>G r.(=) p.(=) g.38502680T>C Copied from the Exome Variant Server AMPH_000112 751/13006 8/8600 743/4406
?/? c.789G>A r.(=) p.(=) g.38502674C>T Copied from the Exome Variant Server AMPH_000111 2/13006 0/8600 2/4406
?/? c.808C>G r.(?) p.(Leu270Val) g.38502655G>C Copied from the Exome Variant Server AMPH_000110 1/13006 0/8600 1/4406
?/? c.829C>T r.(?) p.(Pro277Ser) g.38502634G>A Copied from the Exome Variant Server AMPH_000109 15/13006 12/8600 3/4406
?/? c.852G>A r.(=) p.(=) g.38502611C>T Copied from the Exome Variant Server AMPH_000108 1/13006 1/8600 0/4406
?/? c.858C>T r.(=) p.(=) g.38502605G>A Copied from the Exome Variant Server AMPH_000107 1/13006 1/8600 0/4406
?/? c.859G>A r.(?) p.(Ala287Thr) g.38502604C>T Copied from the Exome Variant Server AMPH_000106 1/13006 0/8600 1/4406
?/? c.867A>G r.(=) p.(=) g.38502596T>C Copied from the Exome Variant Server AMPH_000105 1/13006 0/8600 1/4406
?/? c.869G>A r.(?) p.(Arg290Gln) g.38502594C>T Copied from the Exome Variant Server AMPH_000104 1/13006 0/8600 1/4406
?/? c.870G>A r.(=) p.(=) g.38502593C>T Copied from the Exome Variant Server AMPH_000103 2/13006 2/8600 0/4406
?/? c.875G>A r.(?) p.(Arg292Gln) g.38502588C>T Copied from the Exome Variant Server AMPH_000102 1/13006 0/8600 1/4406
?/? c.880C>T r.(?) p.(Pro294Ser) g.38502583G>A Copied from the Exome Variant Server AMPH_000101 1/13006 0/8600 1/4406
?/? c.888+39G>A r.(=) p.(=) g.38502536C>T Copied from the Exome Variant Server AMPH_000100 1/13006 0/8600 1/4406
?/? c.888+43A>G r.(=) p.(=) g.38502532T>C Copied from the Exome Variant Server AMPH_000099 1/13006 1/8600 0/4406
?/? c.912A>C r.(=) p.(=) g.38500988T>G Copied from the Exome Variant Server AMPH_000098 1/13006 0/8600 1/4406
?/? c.915T>C r.(=) p.(=) g.38500985A>G Copied from the Exome Variant Server AMPH_000097 2/13006 1/8600 1/4406
?/? c.932C>T r.(?) p.(Pro311Leu) g.38500968G>A Copied from the Exome Variant Server AMPH_000096 2/13006 0/8600 2/4406
?/? c.942A>G r.(=) p.(=) g.38500958T>C Copied from the Exome Variant Server AMPH_000095 1/13006 0/8600 1/4406
?/? c.943C>G r.(?) p.(Leu315Val) g.38500957G>C Copied from the Exome Variant Server AMPH_000094 1/13006 1/8600 0/4406
?/? c.973G>A r.(?) p.(Glu325Lys) g.38500927C>T Copied from the Exome Variant Server AMPH_000093 3/13006 1/8600 2/4406
?/? c.1001T>C r.(?) p.(Val334Ala) g.38500899A>G Copied from the Exome Variant Server AMPH_000092 5/13006 0/8600 5/4406
?/? c.1017+8_1017+17del r.(=) p.(=) g.38500866_38500875del Copied from the Exome Variant Server AMPH_000090 167/12518 5/8254 162/4264
?/? c.1017+16_1017+17insGT r.(=) p.(=) g.38500866_38500867insAC Copied from the Exome Variant Server AMPH_000088 111/12518 0/8254 111/4264
?/? c.1018-46T>C r.(=) p.(=) g.38476034A>G Copied from the Exome Variant Server AMPH_000086 6/13006 5/8600 1/4406
?/? c.1018-14G>T r.(=) p.(=) g.38476002C>A Copied from the Exome Variant Server AMPH_000084 1/13006 0/8600 1/4406
?/? c.1018-10G>A r.(=) p.(=) g.38475998C>T Copied from the Exome Variant Server AMPH_000082 2/13006 0/8600 2/4406
?/? c.1093C>A r.(?) p.(Pro365Thr) g.38475913G>T Copied from the Exome Variant Server AMPH_000091 3/13006 0/8600 3/4406
?/? c.1121C>T r.(?) p.(Ser374Leu) g.38475885G>A Copied from the Exome Variant Server AMPH_000089 1/13006 1/8600 0/4406
?/? c.1125C>A r.(=) p.(=) g.38475881G>T Copied from the Exome Variant Server AMPH_000087 1/13006 0/8600 1/4406
?/? c.1128G>C r.(?) p.(Met376Ile) g.38475878C>G Copied from the Exome Variant Server AMPH_000085 369/13006 5/8600 364/4406
?/? c.1134+10G>T r.(=) p.(=) g.38475862C>A Copied from the Exome Variant Server AMPH_000083 1/13006 1/8600 0/4406
?/? c.1134+40A>G r.(=) p.(=) g.38475832T>C Copied from the Exome Variant Server AMPH_000081 748/13006 288/8600 460/4406
?/? c.1135-67T>C r.(=) p.(=) g.38471879A>G Copied from the Exome Variant Server AMPH_000080 29/4564 0/3180 29/1384
?/? c.1135-4T>G r.spl? p.? g.38471816A>C Copied from the Exome Variant Server AMPH_000079 1/13006 0/8600 1/4406
?/? c.1155G>A r.(?) p.(Trp385*) g.38471792C>T Copied from the Exome Variant Server AMPH_000078 1/13006 0/8600 1/4406
?/? c.1158+5G>A r.spl? p.? g.38471784C>T Copied from the Exome Variant Server AMPH_000077 1/13006 1/8600 0/4406
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