All transcript variants in gene MTMR8

Information The variants shown are described using the NM_017677.3 transcript reference sequence.

140 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.-83C>T r.(=) p.(=) g.63615326G>A Copied from the Exome Variant Server MTMR8_000140 6/3600 0/2391 6/1209
?/? c.24+20G>C r.(=) p.(=) g.63615200C>G Copied from the Exome Variant Server MTMR8_000139 2/10563 1/6728 1/3835
?/? c.25-43G>T r.(=) p.(=) g.63579450C>A Copied from the Exome Variant Server MTMR8_000138 28/10562 1/6727 27/3835
?/? c.25-23A>C r.(=) p.(=) g.63579430T>G Copied from the Exome Variant Server MTMR8_000137 1/10563 1/6728 0/3835
?/? c.27A>G r.(=) p.(=) g.63579405T>C Copied from the Exome Variant Server MTMR8_000136 5/10563 0/6728 5/3835
?/? c.68C>T r.(?) p.(Pro23Leu) g.63579364G>A Copied from the Exome Variant Server MTMR8_000135 2/10563 0/6728 2/3835
?/? c.102C>T r.(=) p.(=) g.63579330G>A Copied from the Exome Variant Server MTMR8_000134 1/10563 1/6728 0/3835
?/? c.134G>A r.(?) p.(Arg45Gln) g.63579298C>T Copied from the Exome Variant Server MTMR8_000133 3/10563 3/6728 0/3835
?/? c.141A>G r.(=) p.(=) g.63579291T>C Copied from the Exome Variant Server MTMR8_000131 4/10563 3/6728 1/3835
?/? c.146G>A r.(?) p.(Trp49*) g.63579286C>T Copied from the Exome Variant Server MTMR8_000129 1/10563 1/6728 0/3835
?/? c.147+48A>T r.(=) p.(=) g.63579237T>A Copied from the Exome Variant Server MTMR8_000127 2/10563 2/6728 0/3835
?/? c.148-44A>G r.(=) p.(=) g.63576262T>C Copied from the Exome Variant Server MTMR8_000125 1/10559 0/6724 1/3835
?/? c.148-26T>C r.(=) p.(=) g.63576244A>G Copied from the Exome Variant Server MTMR8_000132 25/10561 0/6726 25/3835
?/? c.185C>A r.(?) p.(Pro62His) g.63576181G>T Copied from the Exome Variant Server MTMR8_000130 22/10563 0/6728 22/3835
?/? c.191C>G r.(?) p.(Thr64Ser) g.63576175G>C Copied from the Exome Variant Server MTMR8_000128 1/10563 1/6728 0/3835
?/? c.217C>T r.(?) p.(Arg73Cys) g.63576149G>A Copied from the Exome Variant Server MTMR8_000126 1/10563 1/6728 0/3835
?/? c.232C>T r.(?) p.(Arg78Trp) g.63576134G>A Copied from the Exome Variant Server MTMR8_000124 1/10563 1/6728 0/3835
?/? c.262del r.(?) p.(Val89Cysfs*34) g.63576104del Copied from the Exome Variant Server MTMR8_000123 2/10205 1/6484 1/3721
?/? c.306G>A r.(=) p.(=) g.63576060C>T Copied from the Exome Variant Server MTMR8_000122 5/10562 0/6727 5/3835
?/? c.311-36A>C r.(=) p.(=) g.63574850T>G Copied from the Exome Variant Server MTMR8_000121 1/10562 0/6727 1/3835
?/? c.311-15A>G r.(=) p.(=) g.63574829T>C Copied from the Exome Variant Server MTMR8_000120 6/10563 0/6728 6/3835
?/? c.410G>A r.(?) p.(Gly137Glu) g.63574715C>T Copied from the Exome Variant Server MTMR8_000119 1/10563 1/6728 0/3835
?/? c.412C>T r.(?) p.(Arg138Cys) g.63574713G>A Copied from the Exome Variant Server MTMR8_000118 1/10563 0/6728 1/3835
?/? c.434A>T r.(?) p.(Asn145Ile) g.63574691T>A Copied from the Exome Variant Server MTMR8_000117 1/10563 1/6728 0/3835
?/? c.447A>G r.(=) p.(=) g.63574678T>C Copied from the Exome Variant Server MTMR8_000116 2/10563 2/6728 0/3835
?/? c.452C>T r.(?) p.(Ala151Val) g.63574673G>A Copied from the Exome Variant Server MTMR8_000115 3/10563 0/6728 3/3835
?/? c.461A>G r.(?) p.(Asn154Ser) g.63574664T>C Copied from the Exome Variant Server MTMR8_000114 1/10563 1/6728 0/3835
?/? c.468+1G>A r.spl? p.? g.63574656C>T Copied from the Exome Variant Server MTMR8_000112 2/10563 2/6728 0/3835
?/? c.468+9G>T r.(=) p.(=) g.63574648C>A Copied from the Exome Variant Server MTMR8_000110 1/10563 0/6728 1/3835
?/? c.468+46T>C r.(=) p.(=) g.63574611A>G Copied from the Exome Variant Server MTMR8_000108 1/10563 0/6728 1/3835
?/? c.469-30_469-29insA r.(=) p.(=) g.63569979_63569980insT Copied from the Exome Variant Server MTMR8_000106 77/9433 4/6038 73/3395
?/? c.469-29T>A r.(=) p.(=) g.63569979A>T Copied from the Exome Variant Server MTMR8_000104 799/9958 16/6362 783/3596
?/? c.469-29_469-28del r.(=) p.(=) g.63569978_63569979del Copied from the Exome Variant Server MTMR8_000101 1189/9592 55/6120 1134/3472
?/? c.469-29_469-28insA r.(=) p.(=) g.63569978_63569979insT Copied from the Exome Variant Server MTMR8_000102 614/9586 27/6117 587/3469
?/? c.469-19T>A r.(=) p.(=) g.63569969A>T Copied from the Exome Variant Server MTMR8_000099 9/10556 1/6723 8/3833
?/? c.524C>T r.(?) p.(Thr175Met) g.63569895G>A Copied from the Exome Variant Server MTMR8_000096 2/10563 2/6728 0/3835
?/? c.530T>C r.(?) p.(Val177Ala) g.63569889A>G Copied from the Exome Variant Server MTMR8_000094 9/10563 9/6728 0/3835
?/? c.559C>T r.(?) p.(Arg187Cys) g.63569860G>A Copied from the Exome Variant Server MTMR8_000113 1/10563 0/6728 1/3835
?/? c.597+13G>T r.(=) p.(=) g.63569809C>A Copied from the Exome Variant Server MTMR8_000111 1/10563 0/6728 1/3835
?/? c.597+14A>T r.(=) p.(=) g.63569808T>A Copied from the Exome Variant Server MTMR8_000109 16/10563 15/6728 1/3835
?/? c.597+50C>A r.(=) p.(=) g.63569772G>T Copied from the Exome Variant Server MTMR8_000107 1/10563 1/6728 0/3835
?/? c.598-49T>A r.(=) p.(=) g.63568723A>T Copied from the Exome Variant Server MTMR8_000105 6/10563 6/6728 0/3835
?/? c.598-46_598-45insT r.(=) p.(=) g.63568719_63568720insA Copied from the Exome Variant Server MTMR8_000103 1/10205 1/6484 0/3721
?/? c.598-40G>A r.(=) p.(=) g.63568714C>T Copied from the Exome Variant Server MTMR8_000100 28/10563 0/6728 28/3835
?/? c.598-14C>G r.(=) p.(=) g.63568688G>C Copied from the Exome Variant Server MTMR8_000098 2/10563 2/6728 0/3835
?/? c.611G>A r.(?) p.(Arg204His) g.63568661C>T Copied from the Exome Variant Server MTMR8_000097 1/10563 0/6728 1/3835
?/? c.624T>C r.(=) p.(=) g.63568648A>G Copied from the Exome Variant Server MTMR8_000095 1/10563 0/6728 1/3835
?/? c.667T>C r.(=) p.(=) g.63568605A>G Copied from the Exome Variant Server MTMR8_000093 1/10563 0/6728 1/3835
?/? c.681C>T r.(=) p.(=) g.63568591G>A Copied from the Exome Variant Server MTMR8_000092 1/10563 1/6728 0/3835
?/? c.732+6T>C r.(=) p.(=) g.63568534A>G Copied from the Exome Variant Server MTMR8_000091 1/10563 1/6728 0/3835
?/? c.732+39C>T r.(=) p.(=) g.63568501G>A Copied from the Exome Variant Server MTMR8_000090 2/10563 2/6728 0/3835
?/? c.733-52C>G r.(=) p.(=) g.63565109G>C Copied from the Exome Variant Server MTMR8_000089 17/6038 17/3621 0/2417
?/? c.733-34C>A r.(=) p.(=) g.63565091G>T Copied from the Exome Variant Server MTMR8_000088 2/10563 2/6728 0/3835
?/? c.745G>A r.(?) p.(Ala249Thr) g.63565045C>T Copied from the Exome Variant Server MTMR8_000087 1/10563 0/6728 1/3835
?/? c.768G>A r.(=) p.(=) g.63565022C>T Copied from the Exome Variant Server MTMR8_000086 1/10563 0/6728 1/3835
?/? c.791C>G r.(?) p.(Ala264Gly) g.63564999G>C Copied from the Exome Variant Server MTMR8_000085 1/10563 1/6728 0/3835
?/? c.792C>T r.(=) p.(=) g.63564998G>A Copied from the Exome Variant Server MTMR8_000084 1/10563 0/6728 1/3835
?/? c.795C>A r.(?) p.(Asn265Lys) g.63564995G>T Copied from the Exome Variant Server MTMR8_000082 1/10563 1/6728 0/3835
?/? c.839G>A r.(?) p.(Arg280Gln) g.63564951C>T Copied from the Exome Variant Server MTMR8_000080 1/10563 1/6728 0/3835
?/? c.856C>T r.(?) p.(Leu286Phe) g.63564934G>A Copied from the Exome Variant Server MTMR8_000078 1/10563 1/6728 0/3835
?/? c.865+1G>A r.spl? p.? g.63564924C>T Copied from the Exome Variant Server MTMR8_000076 1/10563 1/6728 0/3835
?/? c.865+20G>T r.(=) p.(=) g.63564905C>A Copied from the Exome Variant Server MTMR8_000074 1/10563 0/6728 1/3835
?/? c.865+44C>T r.(=) p.(=) g.63564881G>A Copied from the Exome Variant Server MTMR8_000083 1/10563 0/6728 1/3835
?/? c.866-43A>C r.(=) p.(=) g.63563643T>G Copied from the Exome Variant Server MTMR8_000081 8/10531 8/6708 0/3823
?/? c.876G>T r.(?) p.(Leu292Phe) g.63563590C>A Copied from the Exome Variant Server MTMR8_000079 1/10562 1/6727 0/3835
?/? c.907G>A r.(?) p.(Gly303Ser) g.63563559C>T Copied from the Exome Variant Server MTMR8_000077 1/10563 1/6728 0/3835
?/? c.975+1G>T r.spl? p.? g.63563490C>A Copied from the Exome Variant Server MTMR8_000075 1/10559 1/6726 0/3833
?/? c.975+9C>G r.(=) p.(=) g.63563482G>C Copied from the Exome Variant Server MTMR8_000073 1/10557 1/6724 0/3833
?/? c.975+26G>T r.(=) p.(=) g.63563465C>A Copied from the Exome Variant Server MTMR8_000072 1/10548 1/6718 0/3830
?/? c.975+43G>A r.(=) p.(=) g.63563448C>T Copied from the Exome Variant Server MTMR8_000071 5/10524 0/6698 5/3826
?/? c.976-38G>T r.(=) p.(=) g.63557311C>A Copied from the Exome Variant Server MTMR8_000070 6/10563 6/6728 0/3835
?/? c.1006G>A r.(?) p.(Val336Ile) g.63557243C>T Copied from the Exome Variant Server MTMR8_000069 1/10562 1/6727 0/3835
?/? c.1015T>A r.(?) p.(Ser339Thr) g.63557234A>T Copied from the Exome Variant Server MTMR8_000068 1/10562 1/6727 0/3835
?/? c.1031G>A r.(?) p.(Arg344His) g.63557218C>T Copied from the Exome Variant Server MTMR8_000067 1/10562 1/6727 0/3835
?/? c.1066C>G r.(?) p.(Leu356Val) g.63557183G>C Copied from the Exome Variant Server MTMR8_000066 1/10563 1/6728 0/3835
?/? c.1101+44A>G r.(=) p.(=) g.63557104T>C Copied from the Exome Variant Server MTMR8_000065 644/10563 595/6728 49/3835
?/? c.1101+48C>T r.(=) p.(=) g.63557100G>A Copied from the Exome Variant Server MTMR8_000064 1/10563 0/6728 1/3835
?/? c.1102-28C>G r.(=) p.(=) g.63556036G>C Copied from the Exome Variant Server MTMR8_000063 60/10563 0/6728 60/3835
?/? c.1102-4G>T r.spl? p.? g.63556012C>A Copied from the Exome Variant Server MTMR8_000062 1/10562 1/6727 0/3835
?/? c.1151+10T>C r.(=) p.(=) g.63555949A>G Copied from the Exome Variant Server MTMR8_000061 2/10563 0/6728 2/3835
?/? c.1151+48G>A r.(=) p.(=) g.63555911C>T Copied from the Exome Variant Server MTMR8_000060 1/10559 1/6726 0/3833
?/? c.1152-29C>A r.(=) p.(=) g.63551666G>T Copied from the Exome Variant Server MTMR8_000059 1/10555 1/6722 0/3833
?/? c.1152-2A>T r.spl? p.? g.63551639T>A Copied from the Exome Variant Server MTMR8_000058 1/10557 1/6725 0/3832
?/? c.1162C>G r.(?) p.(Leu388Val) g.63551627G>C Copied from the Exome Variant Server MTMR8_000057 1/10558 1/6725 0/3833
?/? c.1165G>A r.(?) p.(Asp389Asn) g.63551624C>T Copied from the Exome Variant Server MTMR8_000056 1/10558 0/6725 1/3833
?/? c.1181A>G r.(?) p.(Glu394Gly) g.63551608T>C Copied from the Exome Variant Server MTMR8_000055 1/10562 1/6727 0/3835
?/? c.1183G>C r.(?) p.(Val395Leu) g.63551606C>G Copied from the Exome Variant Server MTMR8_000054 1/10562 1/6727 0/3835
?/? c.1209A>G r.(=) p.(=) g.63551580T>C Copied from the Exome Variant Server MTMR8_000053 1/10563 0/6728 1/3835
?/? c.1240C>T r.(?) p.(Pro414Ser) g.63551549G>A Copied from the Exome Variant Server MTMR8_000052 5/10563 0/6728 5/3835
?/? c.1248C>A r.(=) p.(=) g.63551541G>T Copied from the Exome Variant Server MTMR8_000051 1/10561 1/6726 0/3835
?/? c.1259A>T r.(?) p.(Asn420Ile) g.63551530T>A Copied from the Exome Variant Server MTMR8_000050 1/10563 1/6728 0/3835
?/? c.1302C>T r.(=) p.(=) g.63551487G>A Copied from the Exome Variant Server MTMR8_000049 1/10563 0/6728 1/3835
?/? c.1323del r.(?) p.(Asn442Thrfs*9) g.63551466del Copied from the Exome Variant Server MTMR8_000048 1/10205 0/6484 1/3721
?/? c.1340G>A r.(?) p.(Arg447Gln) g.63551449C>T Copied from the Exome Variant Server MTMR8_000047 4/10563 0/6728 4/3835
?/? c.1341G>A r.(=) p.(=) g.63551448C>T Copied from the Exome Variant Server MTMR8_000046 1/10563 1/6728 0/3835
?/? c.1353-13_1353-12insT r.(=) p.(=) g.63548792_63548793insA Copied from the Exome Variant Server MTMR8_000045 3/10202 2/6481 1/3721
?/? c.1358A>G r.(?) p.(Tyr453Cys) g.63548775T>C Copied from the Exome Variant Server MTMR8_000044 1/10563 1/6728 0/3835
?/? c.1425T>C r.(=) p.(=) g.63548708A>G Copied from the Exome Variant Server MTMR8_000043 32/10563 1/6728 31/3835
?/? c.1457C>T r.(?) p.(Pro486Leu) g.63548676G>A Copied from the Exome Variant Server MTMR8_000042 1/10563 0/6728 1/3835
?/? c.1481+28C>T r.(=) p.(=) g.63548624G>A Copied from the Exome Variant Server MTMR8_000041 1/10563 0/6728 1/3835
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