All transcript variants in gene A2M

Information The variants shown are described using the NM_000014.4 transcript reference sequence.

238 entries on 3 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.-54T>C r.(=) p.(=) g.9268499A>G Copied from the Exome Variant Server A2M_000238 8/4566 0/3182 8/1384
?/? c.-28T>G r.(=) p.(=) g.9268473A>C Copied from the Exome Variant Server A2M_000237 7129/12160 4176/8274 2953/3886
?/? c.16C>A r.(?) p.(Leu6Ile) g.9268430G>T Copied from the Exome Variant Server A2M_000236 1/12182 1/8282 0/3900
?/? c.53T>G r.(?) p.(Leu18Arg) g.9268393A>C Copied from the Exome Variant Server A2M_000235 26/12136 24/8264 2/3872
?/? c.67G>A r.(?) p.(Ala23Thr) g.9268379C>T Copied from the Exome Variant Server A2M_000234 2/12094 2/8242 0/3852
?/? c.73G>C r.(?) p.(Val25Leu) g.9268373C>G Copied from the Exome Variant Server A2M_000233 1/12074 1/8240 0/3834
?/? c.86C>T r.(?) p.(Pro29Leu) g.9268360G>A Copied from the Exome Variant Server A2M_000232 1/12046 1/8238 0/3808
?/? c.86+13_86+14del r.(=) p.(=) g.9268346_9268347del Copied from the Exome Variant Server A2M_000231 11/11546 3/7898 8/3648
?/? c.86+17G>C r.(=) p.(=) g.9268343C>G Copied from the Exome Variant Server A2M_000230 1/12026 1/8242 0/3784
?/? c.86+34C>T r.(=) p.(=) g.9268326G>A Copied from the Exome Variant Server A2M_000229 1/11978 0/8214 1/3764
?/? c.86+37G>C r.(=) p.(=) g.9268323C>G Copied from the Exome Variant Server A2M_000228 1/11980 1/8216 0/3764
?/? c.87-44C>G r.(=) p.(=) g.9266183G>C Copied from the Exome Variant Server A2M_000227 7/13004 0/8600 7/4404
?/? c.87-14C>T r.(=) p.(=) g.9266153G>A Copied from the Exome Variant Server A2M_000226 1/13004 1/8600 0/4404
?/? c.114G>A r.(=) p.(=) g.9266112C>T Copied from the Exome Variant Server A2M_000225 1/13006 0/8600 1/4406
?/? c.128C>A r.(?) p.(Thr43Asn) g.9266098G>T Copied from the Exome Variant Server A2M_000224 1/13006 1/8600 0/4406
?/? c.165_166insT r.(?) p.(Glu56*) g.9266060_9266061insA Copied from the Exome Variant Server A2M_000223 1/12518 1/8254 0/4264
?/? c.252C>T r.(=) p.(=) g.9265974G>A Copied from the Exome Variant Server A2M_000222 5/13006 4/8600 1/4406
?/? c.267C>T r.(=) p.(=) g.9265959G>A Copied from the Exome Variant Server A2M_000221 1/13006 1/8600 0/4406
?/? c.268G>A r.(?) p.(Ala90Thr) g.9265958C>T Copied from the Exome Variant Server A2M_000220 2/13006 2/8600 0/4406
?/? c.270+24T>C r.(=) p.(=) g.9265932A>G Copied from the Exome Variant Server A2M_000219 1/13002 0/8600 1/4402
?/? c.271-40G>A r.(=) p.(=) g.9265172C>T Copied from the Exome Variant Server A2M_000218 1/12078 0/8236 1/3842
?/? c.271-16C>T r.(=) p.(=) g.9265148G>A Copied from the Exome Variant Server A2M_000217 1/12090 0/8236 1/3854
?/? c.304T>C r.(?) p.(Phe102Leu) g.9265099A>G Copied from the Exome Variant Server A2M_000216 24/12114 0/8250 24/3864
?/? c.360G>A r.(=) p.(=) g.9265043C>T Copied from the Exome Variant Server A2M_000215 5/12184 4/8306 1/3878
?/? c.381T>A r.(?) p.(Ser127Arg) g.9265022A>T Copied from the Exome Variant Server A2M_000214 1/12190 1/8324 0/3866
?/? c.387C>G r.(=) p.(=) g.9265016G>C Copied from the Exome Variant Server A2M_000213 73/12202 66/8334 7/3868
?/? c.403A>T r.(?) p.(Lys135*) g.9265000T>A Copied from the Exome Variant Server A2M_000212 1/12190 0/8318 1/3872
?/? c.411C>A r.(=) p.(=) g.9264992G>T Copied from the Exome Variant Server A2M_000211 1/12184 1/8312 0/3872
?/? c.430+27A>C r.(=) p.(=) g.9264946T>G Copied from the Exome Variant Server A2M_000210 4043/12064 2737/8258 1306/3806
?/? c.431-60C>G r.(=) p.(=) g.9264867G>C Copied from the Exome Variant Server A2M_000209 3/4566 0/3182 3/1384
?/? c.431-28G>A r.(=) p.(=) g.9264835C>T Copied from the Exome Variant Server A2M_000208 2/11812 0/8158 2/3654
?/? c.431-25C>T r.(=) p.(=) g.9264832G>A Copied from the Exome Variant Server A2M_000207 2/11814 2/8156 0/3658
?/? c.431-23C>T r.(=) p.(=) g.9264830G>A Copied from the Exome Variant Server A2M_000206 1/11808 1/8150 0/3658
?/? c.431-14T>C r.(=) p.(=) g.9264821A>G Copied from the Exome Variant Server A2M_000205 1/11792 1/8146 0/3646
?/? c.440G>A r.(?) p.(Arg147His) g.9264798C>T Copied from the Exome Variant Server A2M_000204 3/11808 0/8148 3/3660
?/? c.450C>T r.(=) p.(=) g.9264788G>A Copied from the Exome Variant Server A2M_000203 1/11800 1/8150 0/3650
?/? c.477T>G r.(?) p.(Asn159Lys) g.9264761A>C Copied from the Exome Variant Server A2M_000202 1/11782 1/8140 0/3642
?/? c.479A>T r.(?) p.(Glu160Val) g.9264759T>A Copied from the Exome Variant Server A2M_000201 4/11780 0/8140 4/3640
?/? c.483+45G>T r.(=) p.(=) g.9264710C>A Copied from the Exome Variant Server A2M_000200 20/11822 0/8162 20/3660
?/? c.483+206_483+207insCA r.(=) p.(=) g.9264548_9264549insTG Copied from the Exome Variant Server A2M_000199 1/10528 1/7154 0/3374
?/? c.484-44T>C r.(=) p.(=) g.9262974A>G Copied from the Exome Variant Server A2M_000198 1/10068 1/7016 0/3052
?/? c.505-43G>A r.(=) p.(=) g.9262674C>T Copied from the Exome Variant Server A2M_000197 1/11932 0/8232 1/3700
?/? c.505-36G>T r.(=) p.(=) g.9262667C>A Copied from the Exome Variant Server A2M_000196 1/11940 0/8230 1/3710
?/? c.505-9C>T r.(=) p.(=) g.9262640G>A Copied from the Exome Variant Server A2M_000195 3/12020 3/8276 0/3744
?/? c.521G>A r.(?) p.(Arg174His) g.9262615C>T Copied from the Exome Variant Server A2M_000194 1/12410 1/8438 0/3972
?/? c.544C>A r.(?) p.(Gln182Lys) g.9262592G>T Copied from the Exome Variant Server A2M_000193 1/12612 1/8500 0/4112
?/? c.660C>T r.(=) p.(=) g.9262476G>A Copied from the Exome Variant Server A2M_000192 2/12986 0/8596 2/4390
?/? c.674-24A>G r.(=) p.(=) g.9262025T>C Copied from the Exome Variant Server A2M_000191 2/11892 0/8192 2/3700
?/? c.674-19del r.(=) p.(=) g.9262020del Copied from the Exome Variant Server A2M_000190 1/11448 1/7860 0/3588
?/? c.674-14T>C r.(=) p.(=) g.9262015A>G Copied from the Exome Variant Server A2M_000189 6/11914 0/8212 6/3702
?/? c.692T>A r.(?) p.(Val231Glu) g.9261983A>T Copied from the Exome Variant Server A2M_000188 1/11946 1/8230 0/3716
?/? c.726G>T r.(?) p.(Leu242Phe) g.9261949C>A Copied from the Exome Variant Server A2M_000187 1/11966 1/8240 0/3726
?/? c.744A>G r.(=) p.(=) g.9261931T>C Copied from the Exome Variant Server A2M_000186 1/11956 0/8228 1/3728
?/? c.758+57T>A r.(=) p.(=) g.9261860A>T Copied from the Exome Variant Server A2M_000185 103/4566 3/3182 100/1384
?/? c.759-40A>G r.(=) p.(=) g.9260280T>C Copied from the Exome Variant Server A2M_000184 7149/12218 4215/8342 2934/3876
?/? c.759-13G>A r.(=) p.(=) g.9260253C>T Copied from the Exome Variant Server A2M_000183 1/12306 1/8380 0/3926
?/? c.759-12T>C r.(=) p.(=) g.9260252A>G Copied from the Exome Variant Server A2M_000182 8/12312 0/8382 8/3930
?/? c.775C>T r.(?) p.(Pro259Ser) g.9260224G>A Copied from the Exome Variant Server A2M_000181 1/12304 0/8382 1/3922
?/? c.782C>T r.(?) p.(Pro261Leu) g.9260217G>A Copied from the Exome Variant Server A2M_000180 3/12300 0/8384 3/3916
?/? c.822C>T r.(=) p.(=) g.9260177G>A Copied from the Exome Variant Server A2M_000179 11/12236 8/8340 3/3896
?/? c.828C>T r.(=) p.(=) g.9260171G>A Copied from the Exome Variant Server A2M_000178 1/12194 1/8328 0/3866
?/? c.829G>A r.(?) p.(Asp277Asn) g.9260170C>T Copied from the Exome Variant Server A2M_000177 56/12162 2/8316 54/3846
?/? c.871A>G r.(?) p.(Ser291Gly) g.9260128T>C Copied from the Exome Variant Server A2M_000176 1/11950 0/8232 1/3718
?/? c.878A>G r.(?) p.(Gln293Arg) g.9260121T>C Copied from the Exome Variant Server A2M_000175 1/11936 1/8236 0/3700
?/? c.879+20T>A r.(=) p.(=) g.9260100A>T Copied from the Exome Variant Server A2M_000174 1/11912 0/8222 1/3690
?/? c.880-28T>G r.(=) p.(=) g.9259229A>C Copied from the Exome Variant Server A2M_000173 1/11582 1/8000 0/3582
?/? c.889C>T r.(?) p.(His297Tyr) g.9259192G>A Copied from the Exome Variant Server A2M_000172 1/11798 1/8146 0/3652
?/? c.958C>T r.(?) p.(Leu320Phe) g.9259123G>A Copied from the Exome Variant Server A2M_000171 1/11918 0/8188 1/3730
?/? c.994+11T>A r.(=) p.(=) g.9259076A>T Copied from the Exome Variant Server A2M_000170 139/11904 2/8176 137/3728
?/? c.995-23C>G r.(=) p.(=) g.9258964G>C Copied from the Exome Variant Server A2M_000169 1/11774 1/8132 0/3642
?/? c.995-13_995-12insT r.(=) p.(=) g.9258953_9258954insA Copied from the Exome Variant Server A2M_000168 1/11328 0/7798 1/3530
?/? c.1057G>C r.(?) p.(Val353Leu) g.9258879C>G Copied from the Exome Variant Server A2M_000167 1/11922 1/8188 0/3734
?/? c.1073A>G r.(?) p.(His358Arg) g.9258863T>C Copied from the Exome Variant Server A2M_000166 5/11954 4/8200 1/3754
?/? c.1078C>T r.(?) p.(Arg360*) g.9258858G>A Copied from the Exome Variant Server A2M_000165 1/11944 0/8198 1/3746
?/? c.1079G>A r.(?) p.(Arg360Gln) g.9258857C>T Copied from the Exome Variant Server A2M_000164 17/11946 8/8202 9/3744
?/? c.1102C>G r.(?) p.(Gln368Glu) g.9258834G>C Copied from the Exome Variant Server A2M_000163 6/11974 0/8214 6/3760
?/? c.1104+11T>C r.(=) p.(=) g.9258821A>G Copied from the Exome Variant Server A2M_000162 3468/11986 3047/8226 421/3760
?/? c.1105-34C>T r.(=) p.(=) g.9257030G>A Copied from the Exome Variant Server A2M_000161 7/11794 7/8144 0/3650
?/? c.1108C>T r.(?) p.(Arg370Cys) g.9256993G>A Copied from the Exome Variant Server A2M_000160 1/11890 1/8186 0/3704
?/? c.1129G>A r.(?) p.(Val377Ile) g.9256972C>T Copied from the Exome Variant Server A2M_000159 3/11982 3/8220 0/3762
?/? c.1155C>T r.(=) p.(=) g.9256946G>A Copied from the Exome Variant Server A2M_000158 20/12052 0/8250 20/3802
?/? c.1156A>T r.(?) p.(Ile386Phe) g.9256945T>A Copied from the Exome Variant Server A2M_000157 1/12052 0/8246 1/3806
?/? c.1202A>C r.(?) p.(Glu401Ala) g.9256899T>G Copied from the Exome Variant Server A2M_000156 1/12156 1/8276 0/3880
?/? c.1205A>G r.(?) p.(His402Arg) g.9256896T>C Copied from the Exome Variant Server A2M_000155 1/12160 0/8274 1/3886
?/? c.1224T>C r.(=) p.(=) g.9256877A>G Copied from the Exome Variant Server A2M_000154 1/12166 1/8286 0/3880
?/? c.1263T>C r.(=) p.(=) g.9256838A>G Copied from the Exome Variant Server A2M_000153 1/12072 1/8252 0/3820
?/? c.1283G>A r.(?) p.(Arg428His) g.9254254C>T Copied from the Exome Variant Server A2M_000152 25/12010 3/8246 22/3764
?/? c.1292G>A r.(?) p.(Cys431Tyr) g.9254245C>T Copied from the Exome Variant Server A2M_000151 1/12036 1/8256 0/3780
?/? c.1296C>T r.(=) p.(=) g.9254241G>A Copied from the Exome Variant Server A2M_000150 563/12042 528/8256 35/3786
?/? c.1311G>A r.(=) p.(=) g.9254226C>T Copied from the Exome Variant Server A2M_000149 250/12134 1/8280 249/3854
?/? c.1328A>G r.(?) p.(Glu443Gly) g.9254209T>C Copied from the Exome Variant Server A2M_000148 1/12254 1/8326 0/3928
?/? c.1329G>A r.(=) p.(=) g.9254208C>T Copied from the Exome Variant Server A2M_000147 6/12260 3/8326 3/3934
?/? c.1333C>T r.(?) p.(His445Tyr) g.9254204G>A Copied from the Exome Variant Server A2M_000146 2/12278 0/8334 2/3944
?/? c.1376T>C r.(?) p.(Val459Ala) g.9254161A>G Copied from the Exome Variant Server A2M_000145 1/12356 0/8372 1/3984
?/? c.1384G>A r.(?) p.(Glu462Lys) g.9254153C>T Copied from the Exome Variant Server A2M_000144 20/12358 0/8366 20/3992
?/? c.1410T>C r.(=) p.(=) g.9254127A>G Copied from the Exome Variant Server A2M_000142 2/12264 0/8312 2/3952
?/? c.1494+19G>A r.(=) p.(=) g.9254024C>T Copied from the Exome Variant Server A2M_000143 1/12012 1/8224 0/3788
?/? c.1494+24G>A r.(=) p.(=) g.9254019C>T Copied from the Exome Variant Server A2M_000141 27/11992 17/8218 10/3774
?/? c.1494+48_1494+49del r.(=) p.(=) g.9253994_9253995del Copied from the Exome Variant Server A2M_000140 2/11480 0/7858 2/3622
?/? c.1495-34C>T r.(=) p.(=) g.9253837G>A Copied from the Exome Variant Server A2M_000139 12/11724 0/8070 12/3654
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