All transcript variants in gene EPB42

Information The variants shown are described using the NM_000119.2 transcript reference sequence.

147 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.-51T>C r.(=) p.(=) g.43513074A>G Copied from the Exome Variant Server EPB42_000147 708/13004 2/8598 706/4406
?/? c.-42C>T r.(=) p.(=) g.43513065G>A Copied from the Exome Variant Server EPB42_000146 1/13004 1/8598 0/4406
?/? c.-32G>A r.(=) p.(=) g.43513055C>T Copied from the Exome Variant Server EPB42_000145 1/13004 0/8598 1/4406
?/? c.-25T>G r.(=) p.(=) g.43513048A>C Copied from the Exome Variant Server EPB42_000144 1/13004 1/8598 0/4406
?/? c.-12C>T r.(=) p.(=) g.43513035G>A Copied from the Exome Variant Server EPB42_000143 1/13004 1/8598 0/4406
?/? c.-1C>A r.(=) p.(=) g.43513024G>T Copied from the Exome Variant Server EPB42_000142 1/13004 1/8598 0/4406
?/? c.20G>A r.(?) p.(Ser7Asn) g.43513004C>T Copied from the Exome Variant Server EPB42_000141 1/13004 1/8598 0/4406
?/? c.29C>T r.(?) p.(Ser10Leu) g.43512995G>A Copied from the Exome Variant Server EPB42_000140 370/13004 3/8598 367/4406
?/? c.60C>T r.(=) p.(=) g.43512964G>A Copied from the Exome Variant Server EPB42_000139 2/13004 2/8598 0/4406
?/? c.61G>A r.(?) p.(Ala21Thr) g.43512963C>T Copied from the Exome Variant Server EPB42_000138 1/13004 0/8598 1/4406
?/? c.63A>G r.(=) p.(=) g.43512961T>C Copied from the Exome Variant Server EPB42_000137 1/13004 0/8598 1/4406
?/? c.70C>T r.(?) p.(Pro24Ser) g.43512954G>A Copied from the Exome Variant Server EPB42_000136 10/13004 10/8598 0/4406
?/? c.89G>A r.(?) p.(Ser30Asn) g.43512935C>T Copied from the Exome Variant Server EPB42_000135 9/13004 9/8598 0/4406
?/? c.95T>A r.(?) p.(Met32Lys) g.43512929A>T Copied from the Exome Variant Server EPB42_000134 1/13004 0/8598 1/4406
?/? c.100+1G>A r.spl? p.? g.43512923C>T Copied from the Exome Variant Server EPB42_000133 2/13004 2/8598 0/4406
?/? c.100+6C>T r.(=) p.(=) g.43512918G>A Copied from the Exome Variant Server EPB42_000132 1/13004 1/8598 0/4406
?/? c.100+7G>A r.(=) p.(=) g.43512917C>T Copied from the Exome Variant Server EPB42_000131 1/13004 1/8598 0/4406
?/? c.100+12G>C r.(=) p.(=) g.43512912C>G Copied from the Exome Variant Server EPB42_000130 2/13004 0/8598 2/4406
?/? c.100+16_100+38del r.(=) p.(=) g.43512886_43512908del Copied from the Exome Variant Server EPB42_000129 136/12516 11/8254 125/4262
?/? c.100+18_100+40del r.(=) p.(=) g.43512884_43512906del Copied from the Exome Variant Server EPB42_000128 142/12518 6/8254 136/4264
?/? c.100+42G>T r.(=) p.(=) g.43512882C>A Copied from the Exome Variant Server EPB42_000127 1/13004 1/8598 0/4406
?/? c.100+22_100+44del r.(=) p.(=) g.43512880_43512902del Copied from the Exome Variant Server EPB42_000126 151/12518 14/8254 137/4264
?/? c.101-26C>A r.(=) p.(=) g.43508677G>T Copied from the Exome Variant Server EPB42_000125 5/13004 0/8598 5/4406
?/? c.101-25G>A r.(=) p.(=) g.43508676C>T Copied from the Exome Variant Server EPB42_000124 1/13004 1/8598 0/4406
?/? c.141C>T r.(=) p.(=) g.43508611G>A Copied from the Exome Variant Server EPB42_000123 1/13004 0/8598 1/4406
?/? c.175C>T r.(?) p.(Arg59Trp) g.43508577G>A Copied from the Exome Variant Server EPB42_000122 1/13004 0/8598 1/4406
?/? c.226C>T r.(?) p.(Arg76Cys) g.43508526G>A Copied from the Exome Variant Server EPB42_000121 1/13004 0/8598 1/4406
?/? c.227G>A r.(?) p.(Arg76His) g.43508525C>T Copied from the Exome Variant Server EPB42_000120 1/13004 1/8598 0/4406
?/? c.238C>T r.(?) p.(Arg80Cys) g.43508514G>A Copied from the Exome Variant Server EPB42_000119 1/13004 1/8598 0/4406
?/? c.239G>A r.(?) p.(Arg80His) g.43508513C>T Copied from the Exome Variant Server EPB42_000118 1/13004 0/8598 1/4406
?/? c.250C>T r.(?) p.(Pro84Ser) g.43508502G>A Copied from the Exome Variant Server EPB42_000117 1/13004 0/8598 1/4406
?/? c.255C>G r.(=) p.(=) g.43508497G>C Copied from the Exome Variant Server EPB42_000116 1/13004 0/8598 1/4406
?/? c.267G>A r.(=) p.(=) g.43508485C>T Copied from the Exome Variant Server EPB42_000115 1/13004 1/8598 0/4406
?/? c.306C>G r.(?) p.(Ile102Met) g.43507507G>C Copied from the Exome Variant Server EPB42_000114 1/13004 1/8598 0/4406
?/? c.346G>T r.(?) p.(Asp116Tyr) g.43507467C>A Copied from the Exome Variant Server EPB42_000113 39/13004 0/8598 39/4406
?/? c.350G>T r.(?) p.(Arg117Leu) g.43507463C>A Copied from the Exome Variant Server EPB42_000112 1/13004 1/8598 0/4406
?/? c.420G>A r.(=) p.(=) g.43507393C>T Copied from the Exome Variant Server EPB42_000111 515/13004 3/8598 512/4406
?/? c.466A>T r.(?) p.(Arg156Trp) g.43507347T>A Copied from the Exome Variant Server EPB42_000110 2/13004 2/8598 0/4406
?/? c.474A>G r.(=) p.(=) g.43507339T>C Copied from the Exome Variant Server EPB42_000108 1/13004 0/8598 1/4406
?/? c.508C>A r.(?) p.(Pro170Thr) g.43507305G>T Copied from the Exome Variant Server EPB42_000106 1/13004 0/8598 1/4406
?/? c.520+12C>T r.(=) p.(=) g.43507281G>A Copied from the Exome Variant Server EPB42_000104 23/13004 15/8598 8/4406
?/? c.520+49T>C r.(=) p.(=) g.43507244A>G Copied from the Exome Variant Server EPB42_000103 2/12996 0/8594 2/4402
?/? c.523G>C r.(?) p.(Asp175His) g.43503730C>G Copied from the Exome Variant Server EPB42_000109 1/13004 1/8598 0/4406
?/? c.543T>C r.(=) p.(=) g.43503710A>G Copied from the Exome Variant Server EPB42_000107 29/13004 11/8598 18/4406
?/? c.553C>T r.(?) p.(Arg185Cys) g.43503700G>A Copied from the Exome Variant Server EPB42_000105 1/13004 0/8598 1/4406
?/? c.588C>T r.(=) p.(=) g.43503665G>A Copied from the Exome Variant Server EPB42_000102 2/13004 2/8598 0/4406
?/? c.599C>T r.(?) p.(Thr200Ile) g.43503654G>A Copied from the Exome Variant Server EPB42_000101 1/13004 0/8598 1/4406
?/? c.639+23G>A r.(=) p.(=) g.43503591C>T Copied from the Exome Variant Server EPB42_000100 1/13004 1/8598 0/4406
?/? c.640-27A>C r.(=) p.(=) g.43502664T>G Copied from the Exome Variant Server EPB42_000099 7/13004 0/8598 7/4406
?/? c.640-16G>A r.(=) p.(=) g.43502653C>T Copied from the Exome Variant Server EPB42_000098 1/13004 0/8598 1/4406
?/? c.650A>G r.(?) p.(Asp217Gly) g.43502627T>C Copied from the Exome Variant Server EPB42_000097 2/13004 0/8598 2/4406
?/? c.670C>T r.(?) p.(Arg224Cys) g.43502607G>A Copied from the Exome Variant Server EPB42_000096 2/13004 2/8598 0/4406
?/? c.671G>A r.(?) p.(Arg224His) g.43502606C>T Copied from the Exome Variant Server EPB42_000095 12/13004 0/8598 12/4406
?/? c.714G>A r.(=) p.(=) g.43502563C>T Copied from the Exome Variant Server EPB42_000094 1/13004 0/8598 1/4406
?/? c.744+6C>T r.(=) p.(=) g.43502527G>A Copied from the Exome Variant Server EPB42_000093 3/13004 0/8598 3/4406
?/? c.744+7G>A r.(=) p.(=) g.43502526C>T Copied from the Exome Variant Server EPB42_000092 255/13004 232/8598 23/4406
?/? c.744+39G>A r.(=) p.(=) g.43502494C>T Copied from the Exome Variant Server EPB42_000091 1/13004 1/8598 0/4406
?/? c.779C>T r.(?) p.(Thr260Ile) g.43501615G>A Copied from the Exome Variant Server EPB42_000090 1/13004 0/8598 1/4406
?/? c.816G>C r.(=) p.(=) g.43501578C>G Copied from the Exome Variant Server EPB42_000089 1/13004 0/8598 1/4406
?/? c.831C>A r.(=) p.(=) g.43501563G>T Copied from the Exome Variant Server EPB42_000088 19/13000 0/8594 19/4406
?/? c.834C>T r.(=) p.(=) g.43501560G>A Copied from the Exome Variant Server EPB42_000087 1/13002 0/8596 1/4406
?/? c.835G>A r.(?) p.(Val279Met) g.43501559C>T Copied from the Exome Variant Server EPB42_000086 1/13002 1/8596 0/4406
?/? c.866G>A r.(?) p.(Arg289Gln) g.43501528C>T Copied from the Exome Variant Server EPB42_000085 1/13004 0/8598 1/4406
?/? c.923-16G>A r.(=) p.(=) g.43500989C>T Copied from the Exome Variant Server EPB42_000084 1/12998 0/8596 1/4402
?/? c.923-4A>G r.spl? p.? g.43500977T>C Copied from the Exome Variant Server EPB42_000083 705/13004 2/8598 703/4406
?/? c.950G>A r.(?) p.(Arg317His) g.43500946C>T Copied from the Exome Variant Server EPB42_000082 1/13004 1/8598 0/4406
?/? c.984C>T r.(=) p.(=) g.43500912G>A Copied from the Exome Variant Server EPB42_000081 41/13004 36/8598 5/4406
?/? c.1036G>A r.(?) p.(Gly346Arg) g.43500860C>T Copied from the Exome Variant Server EPB42_000080 1/13004 0/8598 1/4406
?/? c.1043G>T r.(?) p.(Gly348Val) g.43500853C>A Copied from the Exome Variant Server EPB42_000079 6/13004 0/8598 6/4406
?/? c.1052G>A r.(?) p.(Gly351Asp) g.43500844C>T Copied from the Exome Variant Server EPB42_000078 1/13004 1/8598 0/4406
?/? c.1062G>T r.(?) p.(Trp354Cys) g.43500531C>A Copied from the Exome Variant Server EPB42_000077 1/13004 1/8598 0/4406
?/? c.1083G>A r.(=) p.(=) g.43500510C>T Copied from the Exome Variant Server EPB42_000076 1/13004 0/8598 1/4406
?/? c.1097G>A r.(?) p.(Arg366Gln) g.43500496C>T Copied from the Exome Variant Server EPB42_000075 1/13004 1/8598 0/4406
?/? c.1115G>A r.(?) p.(Gly372Asp) g.43500478C>T Copied from the Exome Variant Server EPB42_000074 16/13004 15/8598 1/4406
?/? c.1122T>C r.(=) p.(=) g.43500471A>G Copied from the Exome Variant Server EPB42_000073 7/13004 7/8598 0/4406
?/? c.1149T>C r.(=) p.(=) g.43500444A>G Copied from the Exome Variant Server EPB42_000072 1/13004 0/8598 1/4406
?/? c.1165+29C>T r.(=) p.(=) g.43500399G>A Copied from the Exome Variant Server EPB42_000071 1/13004 0/8598 1/4406
?/? c.1165+30G>A r.(=) p.(=) g.43500398C>T Copied from the Exome Variant Server EPB42_000070 1/13004 0/8598 1/4406
?/? c.1166-37C>T r.(=) p.(=) g.43499676G>A Copied from the Exome Variant Server EPB42_000069 1/13000 1/8594 0/4406
?/? c.1166-34A>G r.(=) p.(=) g.43499673T>C Copied from the Exome Variant Server EPB42_000068 3/13002 3/8596 0/4406
?/? c.1166-29C>G r.(=) p.(=) g.43499668G>C Copied from the Exome Variant Server EPB42_000067 1/13004 0/8598 1/4406
?/? c.1196G>A r.(?) p.(Arg399Lys) g.43499609C>T Copied from the Exome Variant Server EPB42_000066 1/13004 1/8598 0/4406
?/? c.1231G>T r.(?) p.(Ala411Ser) g.43499574C>A Copied from the Exome Variant Server EPB42_000065 1/13004 1/8598 0/4406
?/? c.1255A>C r.(?) p.(Ile419Leu) g.43499550T>G Copied from the Exome Variant Server EPB42_000064 3/13004 3/8598 0/4406
?/? c.1291G>A r.(?) p.(Asp431Asn) g.43499514C>T Copied from the Exome Variant Server EPB42_000063 1/13004 1/8598 0/4406
?/? c.1308G>A r.(=) p.(=) g.43499497C>T Copied from the Exome Variant Server EPB42_000062 1/13004 0/8598 1/4406
?/? c.1369C>T r.(?) p.(Arg457Cys) g.43499436G>A Copied from the Exome Variant Server EPB42_000061 38/13004 33/8598 5/4406
?/? c.1370G>A r.(?) p.(Arg457His) g.43499435C>T Copied from the Exome Variant Server EPB42_000060 4/13004 4/8598 0/4406
?/? c.1374C>T r.(=) p.(=) g.43499431G>A Copied from the Exome Variant Server EPB42_000059 2/13004 0/8598 2/4406
?/? c.1378G>A r.(?) p.(Asp460Asn) g.43499427C>T Copied from the Exome Variant Server EPB42_000056 1/13004 1/8598 0/4406
?/? c.1408+3A>G r.spl? p.? g.43499394T>C Copied from the Exome Variant Server EPB42_000054 1/13004 1/8598 0/4406
?/? c.1408+4C>T r.spl? p.? g.43499393G>A Copied from the Exome Variant Server EPB42_000052 210/13004 195/8598 15/4406
?/? c.1408+5G>A r.spl? p.? g.43499392C>T Copied from the Exome Variant Server EPB42_000058 1/13004 1/8598 0/4406
?/? c.1408+32G>A r.(=) p.(=) g.43499365C>T Copied from the Exome Variant Server EPB42_000057 1/13004 1/8598 0/4406
?/? c.1409-49A>G r.(=) p.(=) g.43498876T>C Copied from the Exome Variant Server EPB42_000055 980/13004 2/8598 978/4406
?/? c.1409-13T>G r.(=) p.(=) g.43498840A>C Copied from the Exome Variant Server EPB42_000053 1/13004 1/8598 0/4406
?/? c.1476C>T r.(=) p.(=) g.43498760G>A Copied from the Exome Variant Server EPB42_000051 1/13004 1/8598 0/4406
?/? c.1477G>A r.(?) p.(Gly493Ser) g.43498759C>T Copied from the Exome Variant Server EPB42_000050 7/13004 7/8598 0/4406
?/? c.1531G>T r.(?) p.(Ala511Ser) g.43498705C>A Copied from the Exome Variant Server EPB42_000049 1/13004 0/8598 1/4406
?/? c.1577C>T r.(?) p.(Thr526Met) g.43498659G>A Copied from the Exome Variant Server EPB42_000048 4/13004 4/8598 0/4406
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