All transcript variants in gene ECM1

Information The variants shown are described using the NM_004425.3 transcript reference sequence.

105 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.28G>A r.(?) p.(Val10Ile) g.150480713G>A Copied from the Exome Variant Server ECM1_000001 1/13006 0/8600 1/4406
?/? c.68G>T r.(?) p.(Gly23Val) g.150480753G>T Copied from the Exome Variant Server ECM1_000002 3/13006 3/8600 0/4406
?/? c.70+40T>C r.(=) p.(=) g.150480795T>C Copied from the Exome Variant Server ECM1_000003 1/13006 1/8600 0/4406
?/? c.71-25C>T r.(=) p.(=) g.150481982C>T Copied from the Exome Variant Server ECM1_000004 209/13006 197/8600 12/4406
?/? c.77C>T r.(?) p.(Thr26Met) g.150482013C>T Copied from the Exome Variant Server ECM1_000005 1/13006 1/8600 0/4406
?/? c.78G>A r.(=) p.(=) g.150482014G>A Copied from the Exome Variant Server ECM1_000006 2/13006 2/8600 0/4406
?/? c.121+11G>T r.(=) p.(=) g.150482068G>T Copied from the Exome Variant Server ECM1_000007 1/13006 1/8600 0/4406
?/? c.121+20G>A r.(=) p.(=) g.150482077G>A Copied from the Exome Variant Server ECM1_000008 142/13006 1/8600 141/4406
?/? c.121+22A>C r.(=) p.(=) g.150482079A>C Copied from the Exome Variant Server ECM1_000009 3/13006 3/8600 0/4406
?/? c.122-3T>G r.spl? p.? g.150482134T>G Copied from the Exome Variant Server ECM1_000010 1/13006 1/8600 0/4406
?/? c.130G>A r.(?) p.(Ala44Thr) g.150482145G>A Copied from the Exome Variant Server ECM1_000011 102/13006 95/8600 7/4406
?/? c.152del r.(?) p.(Leu51Hisfs*127) g.150482167del Copied from the Exome Variant Server ECM1_000012 2/12518 2/8254 0/4264
?/? c.157C>T r.(?) p.(Arg53*) g.150482172C>T Copied from the Exome Variant Server ECM1_000013 1/13006 0/8600 1/4406
?/? c.158G>A r.(?) p.(Arg53Gln) g.150482173G>A Copied from the Exome Variant Server ECM1_000014 5/13006 0/8600 5/4406
?/? c.161G>A r.(?) p.(Ser54Asn) g.150482176G>A Copied from the Exome Variant Server ECM1_000015 1/13006 1/8600 0/4406
?/? c.223+17A>G r.(=) p.(=) g.150482255A>G Copied from the Exome Variant Server ECM1_000016 1329/13006 1207/8600 122/4406
?/? c.223+40G>T r.(=) p.(=) g.150482278G>T Copied from the Exome Variant Server ECM1_000017 56/13006 2/8600 54/4406
?/? c.229del r.(?) p.(Pro78Leufs*100) g.150482403del Copied from the Exome Variant Server ECM1_000019 3/12520 2/8254 1/4266
?/? c.229dup r.(?) p.(Pro79Serfs*21) g.150482403dup Copied from the Exome Variant Server ECM1_000018 2/12520 1/8254 1/4266
?/? c.231C>T r.(=) p.(=) g.150482405C>T Copied from the Exome Variant Server ECM1_000020 121/13006 1/8600 120/4406
?/? c.277C>T r.(?) p.(Pro93Ser) g.150482451C>T Copied from the Exome Variant Server ECM1_000021 1/13006 1/8600 0/4406
?/? c.304+7G>A r.(=) p.(=) g.150482485G>A Copied from the Exome Variant Server ECM1_000023 1/13006 1/8600 0/4406
?/? c.304+33C>T r.(=) p.(=) g.150482511C>T Copied from the Exome Variant Server ECM1_000025 4/13006 0/8600 4/4406
?/? c.305-9A>G r.(=) p.(=) g.150482569A>G Copied from the Exome Variant Server ECM1_000026 1/13006 1/8600 0/4406
?/? c.305-8T>C r.(=) p.(=) g.150482570T>C Copied from the Exome Variant Server ECM1_000027 1/13006 0/8600 1/4406
?/? c.305-1G>A r.spl? p.? g.150482577G>A Copied from the Exome Variant Server ECM1_000029 1/13006 0/8600 1/4406
?/? c.366C>T r.(=) p.(=) g.150482639C>T Copied from the Exome Variant Server ECM1_000031 206/13006 3/8600 203/4406
?/? c.385+15C>T r.(=) p.(=) g.150482673C>T Copied from the Exome Variant Server ECM1_000033 1/13006 0/8600 1/4406
?/? c.385+30_385+31insTTTA r.(=) p.(=) g.150482688_150482689insTTTA Copied from the Exome Variant Server ECM1_000035 2/12520 0/8254 2/4266
?/? c.386-26G>A r.(=) p.(=) g.150483326G>A Copied from the Exome Variant Server ECM1_000037 1/12766 0/8444 1/4322
?/? c.386-5T>G r.spl? p.? g.150483347T>G Copied from the Exome Variant Server ECM1_000022 4/12876 4/8514 0/4362
?/? c.389C>T r.(?) p.(Thr130Met) g.150483355C>T Copied from the Exome Variant Server ECM1_000024 3823/12920 3405/8548 418/4372
?/? c.464G>A r.(?) p.(Arg155Gln) g.150483430G>A Copied from the Exome Variant Server ECM1_000105 1/13006 0/8600 1/4406
?/? c.490C>G r.(?) p.(Leu164Val) g.150483456C>G Copied from the Exome Variant Server ECM1_000028 1/13006 0/8600 1/4406
?/? c.500_501insC r.(?) p.(Gly170Trpfs*15) g.150483466_150483467insC Copied from the Exome Variant Server ECM1_000030 1/12518 0/8252 1/4266
?/? c.505C>G r.(?) p.(Pro169Ala) g.150483471C>G Copied from the Exome Variant Server ECM1_000032 3/13006 2/8600 1/4406
?/? c.512G>A r.(?) p.(Arg171Gln) g.150483478G>A Copied from the Exome Variant Server ECM1_000034 1/13006 1/8600 0/4406
?/? c.526A>C r.(?) p.(Asn176His) g.150483492A>C Copied from the Exome Variant Server ECM1_000036 2/13006 2/8600 0/4406
?/? c.553C>T r.(?) p.(Arg185Cys) g.150483519C>T Copied from the Exome Variant Server ECM1_000038 3/13006 0/8600 3/4406
?/? c.554G>A r.(?) p.(Arg185His) g.150483520G>A Copied from the Exome Variant Server ECM1_000039 1/13006 1/8600 0/4406
?/? c.603C>A r.(=) p.(=) g.150483569C>A Copied from the Exome Variant Server ECM1_000040 1/13006 0/8600 1/4406
?/? c.614G>A r.(?) p.(Arg205His) g.150483580G>A Copied from the Exome Variant Server ECM1_000041 2/13006 2/8600 0/4406
?/? c.654C>T r.(=) p.(=) g.150483620C>T Copied from the Exome Variant Server ECM1_000043 1/13006 1/8600 0/4406
?/? c.658_659insGCTGCC r.(?) p.(Cys221_His222insArgCys) g.150483624_150483625insGCTGCC Copied from the Exome Variant Server ECM1_000045 2/12518 0/8252 2/4266
?/? c.685C>T r.(?) p.(Arg229Cys) g.150483651C>T Copied from the Exome Variant Server ECM1_000047 1/13006 1/8600 0/4406
?/? c.708+22C>T r.(=) p.(=) g.150483696C>T Copied from the Exome Variant Server ECM1_000049 3/13006 0/8600 3/4406
?/? c.708+32C>T r.(=) p.(=) g.150483706C>T Copied from the Exome Variant Server ECM1_000051 5/13006 0/8600 5/4406
?/? c.709-50G>A r.(=) p.(=) g.150483883G>A Copied from the Exome Variant Server ECM1_000053 1/13006 1/8600 0/4406
?/? c.714G>A r.(=) p.(=) g.150483938G>A Copied from the Exome Variant Server ECM1_000055 1/13006 0/8600 1/4406
?/? c.728G>A r.(?) p.(Arg243Gln) g.150483952G>A Copied from the Exome Variant Server ECM1_000057 1/13006 1/8600 0/4406
?/? c.742G>A r.(?) p.(Glu248Lys) g.150483966G>A Copied from the Exome Variant Server ECM1_000059 2/13006 2/8600 0/4406
?/? c.777C>T r.(=) p.(=) g.150484001C>T Copied from the Exome Variant Server ECM1_000061 3/13006 3/8600 0/4406
?/? c.780G>A r.(=) p.(=) g.150484004G>A Copied from the Exome Variant Server ECM1_000063 1746/13006 765/8600 981/4406
?/? c.782G>A r.(?) p.(Arg261Gln) g.150484006G>A Copied from the Exome Variant Server ECM1_000065 1/13006 0/8600 1/4406
?/? c.792G>A r.(=) p.(=) g.150484016G>A Copied from the Exome Variant Server ECM1_000067 210/13006 3/8600 207/4406
?/? c.796C>T r.(?) p.(Arg266Trp) g.150484020C>T Copied from the Exome Variant Server ECM1_000042 1/13006 0/8600 1/4406
?/? c.845G>A r.(?) p.(Arg282Gln) g.150484069G>A Copied from the Exome Variant Server ECM1_000044 4/13006 1/8600 3/4406
?/? c.874T>C r.(?) p.(Ser292Pro) g.150484098T>C Copied from the Exome Variant Server ECM1_000046 1/13006 1/8600 0/4406
?/? c.878C>T r.(?) p.(Ser293Leu) g.150484102C>T Copied from the Exome Variant Server ECM1_000048 1/13006 0/8600 1/4406
?/? c.956G>A r.(?) p.(Arg319His) g.150484180G>A Copied from the Exome Variant Server ECM1_000050 2/13006 1/8600 1/4406
?/? c.967C>T r.(?) p.(Arg323Cys) g.150484191C>T Copied from the Exome Variant Server ECM1_000052 1/13006 1/8600 0/4406
?/? c.977C>T r.(?) p.(Pro326Leu) g.150484201C>T Copied from the Exome Variant Server ECM1_000054 1/13006 1/8600 0/4406
?/? c.1033T>A r.(?) p.(Phe345Ile) g.150484257T>A Copied from the Exome Variant Server ECM1_000056 7/13006 6/8600 1/4406
?/? c.1049G>A r.(?) p.(Arg350His) g.150484273G>A Copied from the Exome Variant Server ECM1_000058 3/13006 3/8600 0/4406
?/? c.1075T>C r.(?) p.(Trp359Arg) g.150484299T>C Copied from the Exome Variant Server ECM1_000060 1/13006 0/8600 1/4406
?/? c.1083C>T r.(=) p.(=) g.150484307C>T Copied from the Exome Variant Server ECM1_000062 3/13006 0/8600 3/4406
?/? c.1083+1G>A r.spl? p.? g.150484308G>A Copied from the Exome Variant Server ECM1_000064 1/13006 0/8600 1/4406
?/? c.1083+10C>T r.(=) p.(=) g.150484317C>T Copied from the Exome Variant Server ECM1_000066 45/13006 39/8600 6/4406
?/? c.1083+11G>A r.(=) p.(=) g.150484318G>A Copied from the Exome Variant Server ECM1_000068 1/13006 0/8600 1/4406
?/? c.1084-36T>A r.(=) p.(=) g.150484792T>A Copied from the Exome Variant Server ECM1_000069 10/13006 1/8600 9/4406
?/? c.1084-31A>G r.(=) p.(=) g.150484797A>G Copied from the Exome Variant Server ECM1_000070 1/13006 0/8600 1/4406
?/? c.1084-21T>G r.(=) p.(=) g.150484807T>G Copied from the Exome Variant Server ECM1_000071 2/13006 1/8600 1/4406
?/? c.1100A>T r.(?) p.(Asp367Val) g.150484844A>T Copied from the Exome Variant Server ECM1_000072 105/13006 94/8600 11/4406
?/? c.1143C>T r.(=) p.(=) g.150484887C>T Copied from the Exome Variant Server ECM1_000073 1/13006 1/8600 0/4406
?/? c.1144T>A r.(?) p.(Leu382Met) g.150484888T>A Copied from the Exome Variant Server ECM1_000074 1/13006 1/8600 0/4406
?/? c.1153C>T r.(?) p.(Arg385Cys) g.150484897C>T Copied from the Exome Variant Server ECM1_000075 3/13006 2/8600 1/4406
?/? c.1154G>A r.(?) p.(Arg385His) g.150484898G>A Copied from the Exome Variant Server ECM1_000076 1/13006 0/8600 1/4406
?/? c.1175G>A r.(?) p.(Arg392Gln) g.150484919G>A Copied from the Exome Variant Server ECM1_000077 1/13006 1/8600 0/4406
?/? c.1225A>G r.(?) p.(Ile409Val) g.150484969A>G Copied from the Exome Variant Server ECM1_000078 1/13006 1/8600 0/4406
?/? c.1242C>T r.(=) p.(=) g.150484986C>T Copied from the Exome Variant Server ECM1_000079 4/13006 4/8600 0/4406
?/? c.1243G>A r.(?) p.(Gly415Ser) g.150484987G>A Copied from the Exome Variant Server ECM1_000080 4451/13006 3534/8600 917/4406
?/? c.1247G>A r.(?) p.(Arg416Gln) g.150484991G>A Copied from the Exome Variant Server ECM1_000081 1/13006 1/8600 0/4406
?/? c.1274T>A r.(?) p.(Leu425His) g.150485018T>A Copied from the Exome Variant Server ECM1_000082 1/13006 0/8600 1/4406
?/? c.1304+5_1304+6insTC r.spl? p.? g.150485053_150485054insTC Copied from the Exome Variant Server ECM1_000083 477/12520 12/8254 465/4266
?/? c.1304+21C>T r.(=) p.(=) g.150485069C>T Copied from the Exome Variant Server ECM1_000084 1/13006 0/8600 1/4406
?/? c.1305-51G>A r.(=) p.(=) g.150485150G>A Copied from the Exome Variant Server ECM1_000085 2/13006 2/8600 0/4406
?/? c.1305-26del r.(=) p.(=) g.150485175del Copied from the Exome Variant Server ECM1_000086 37/12514 31/8248 6/4266
?/? c.1305-25C>T r.(=) p.(=) g.150485176C>T Copied from the Exome Variant Server ECM1_000087 210/13006 3/8600 207/4406
?/? c.1305-14T>C r.(=) p.(=) g.150485187T>C Copied from the Exome Variant Server ECM1_000088 227/13006 8/8600 219/4406
?/? c.1392+43G>A r.(=) p.(=) g.150485331G>A Copied from the Exome Variant Server ECM1_000089 25/13006 23/8600 2/4406
?/? c.1393-45C>T r.(=) p.(=) g.150485668C>T Copied from the Exome Variant Server ECM1_000090 1/13006 1/8600 0/4406
?/? c.1393-26_1393-25del r.(=) p.(=) g.150485687_150485688del Copied from the Exome Variant Server ECM1_000091 4/12520 0/8254 4/4266
?/? c.1410T>A r.(?) p.(Asn470Lys) g.150485730T>A Copied from the Exome Variant Server ECM1_000092 1/13006 0/8600 1/4406
?/? c.1427G>A r.(?) p.(Arg476Gln) g.150485747G>A Copied from the Exome Variant Server ECM1_000093 1/13006 1/8600 0/4406
?/? c.1429C>T r.(?) p.(Arg477Cys) g.150485749C>T Copied from the Exome Variant Server ECM1_000094 8/13006 0/8600 8/4406
?/? c.1441C>T r.(?) p.(Arg481*) g.150485761C>T Copied from the Exome Variant Server ECM1_000095 1/13006 0/8600 1/4406
?/? c.1446_1450del r.(?) p.(Ala484Leufs*9) g.150485766_150485770del Copied from the Exome Variant Server ECM1_000096 47/12520 35/8254 12/4266
?/? c.1460G>C r.(?) p.(Cys487Ser) g.150485780G>C Copied from the Exome Variant Server ECM1_000097 1/13006 1/8600 0/4406
?/? c.1512G>A r.(=) p.(=) g.150485832G>A Copied from the Exome Variant Server ECM1_000098 1/13006 1/8600 0/4406
?/? c.1530G>T r.(=) p.(=) g.150485850G>T Copied from the Exome Variant Server ECM1_000099 1/13006 1/8600 0/4406
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