Full data view for gene ERCC8

Information The variants shown are described using the NM_000082.3 transcript reference sequence.

112 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     

Template     

Technique     

Disease     

Reference     

Remarks     

Panel size     

Owner     
?/? c.-59C>A r.(=) p.(=) g.60240894G>T Copied from the Exome Variant Server ERCC8_000109 1/4566 1/3182 0/1384 - - - - - - -
?/? c.-40A>T r.(=) p.(=) g.60240875T>A Copied from the Exome Variant Server ERCC8_000107 1/13006 0/8600 1/4406 - - - - - - -
?/? c.-39T>C r.(=) p.(=) g.60240874A>G Copied from the Exome Variant Server ERCC8_000105 1/13006 1/8600 0/4406 - - - - - - -
?/? c.-23T>G r.(=) p.(=) g.60240858A>C Copied from the Exome Variant Server ERCC8_000103 337/13006 307/8600 30/4406 - - - - - - -
?/? c.40G>A r.(?) p.(Asp14Asn) g.60240796C>T Copied from the Exome Variant Server ERCC8_000101 1/13006 0/8600 1/4406 - - - - - - -
?/? c.66G>A r.(=) p.(=) g.60240770C>T Copied from the Exome Variant Server ERCC8_000099 10/13006 8/8600 2/4406 - - - - - - -
?/? c.77+16C>T r.(=) p.(=) g.60240743G>A Copied from the Exome Variant Server ERCC8_000097 1/13006 1/8600 0/4406 - - - - - - -
?/? c.77+4297C>T r.(=) p.(=) g.60236462G>A Copied from the Exome Variant Server ERCC8_000095 49/4566 21/3182 28/1384 - - - - - - -
?/? c.77+4326A>G r.(=) p.(=) g.60236433T>C Copied from the Exome Variant Server ERCC8_000093 33/4566 1/3182 32/1384 - - - - - - -
?/? c.77+5451dup r.(=) p.(=) g.60235308dup Copied from the Exome Variant Server ERCC8_000092 103/5642 76/3832 27/1810 - - - - - - -
?/? c.77+5451_77+5453del r.(=) p.(=) g.60235306_60235308del Copied from the Exome Variant Server ERCC8_000089 1198/5642 1001/3832 197/1810 - - - - - - -
?/? c.77+5565A>C r.(=) p.(=) g.60235194T>G Copied from the Exome Variant Server ERCC8_000112 4/4566 4/3182 0/1384 - - - - - - -
?/? c.77+6631A>G r.(=) p.(=) g.60234128T>C Copied from the Exome Variant Server ERCC8_000110 9/4564 8/3180 1/1384 - - - - - - -
?/? c.77+6668C>T r.(=) p.(=) g.60234091G>A Copied from the Exome Variant Server ERCC8_000108 3/4564 0/3180 3/1384 - - - - - - -
?/? c.78-16C>G r.(=) p.(=) g.60224802G>C Copied from the Exome Variant Server ERCC8_000106 1/12990 0/8592 1/4398 - - - - - - -
?/? c.107G>C r.(?) p.(Arg36Thr) g.60224757C>G Copied from the Exome Variant Server ERCC8_000104 1/13002 1/8596 0/4406 - - - - - - -
?/? c.126C>G r.(?) p.(His42Gln) g.60224738G>C Copied from the Exome Variant Server ERCC8_000102 1/13000 1/8594 0/4406 - - - - - - -
?/? c.129C>T r.(=) p.(=) g.60224735G>A Copied from the Exome Variant Server ERCC8_000100 1/13000 1/8594 0/4406 - - - - - - -
?/? c.130G>A r.(?) p.(Gly44Ser) g.60224734C>T Copied from the Exome Variant Server ERCC8_000098 1/13000 1/8594 0/4406 - - - - - - -
?/? c.149A>G r.(?) p.(Asp50Gly) g.60224715T>C Copied from the Exome Variant Server ERCC8_000096 1/13000 0/8594 1/4406 - - - - - - -
?/? c.152T>C r.(?) p.(Ile51Thr) g.60224712A>G Copied from the Exome Variant Server ERCC8_000094 1/13000 1/8594 0/4406 - - - - - - -
?/? c.170G>A r.(?) p.(Arg57Lys) g.60224694C>T Copied from the Exome Variant Server ERCC8_000091 1/13000 1/8594 0/4406 - - - - - - -
?/? c.173+9A>G r.(=) p.(=) g.60224682T>C Copied from the Exome Variant Server ERCC8_000090 2/12998 2/8592 0/4406 - - - - - - -
?/? c.173+11T>C r.(=) p.(=) g.60224680A>G Copied from the Exome Variant Server ERCC8_000088 1/12998 0/8592 1/4406 - - - - - - -
?/? c.174-28A>G r.(=) p.(=) g.60218010T>C Copied from the Exome Variant Server ERCC8_000087 5/12988 1/8584 4/4404 - - - - - - -
?/? c.175A>T r.(?) p.(Met59Leu) g.60217981T>A Copied from the Exome Variant Server ERCC8_000086 6/13004 0/8598 6/4406 - - - - - - -
?/? c.234A>T r.(?) p.(Arg78Ser) g.60217922T>A Copied from the Exome Variant Server ERCC8_000085 1/13004 1/8598 0/4406 - - - - - - -
?/? c.250T>C r.(?) p.(Cys84Arg) g.60217906A>G Copied from the Exome Variant Server ERCC8_000084 2/13004 2/8598 0/4406 - - - - - - -
?/? c.271G>C r.(?) p.(Gly91Arg) g.60217885C>G Copied from the Exome Variant Server ERCC8_000083 1/13004 0/8598 1/4406 - - - - - - -
?/? c.275+45A>T r.(=) p.(=) g.60217836T>A Copied from the Exome Variant Server ERCC8_000082 1/12986 1/8584 0/4402 - - - - - - -
?/? c.276-39A>G r.(=) p.(=) g.60214254T>C Copied from the Exome Variant Server ERCC8_000081 3/13004 3/8598 0/4406 - - - - - - -
?/? c.300C>G r.(?) p.(Tyr100*) g.60214191G>C Copied from the Exome Variant Server ERCC8_000079 2/13004 1/8598 1/4406 - - - - - - -
?/? c.302G>A r.(?) p.(Ser101Asn) g.60214189C>T Copied from the Exome Variant Server ERCC8_000111 1/13004 0/8598 1/4406 - - - - - - -
?/? c.329A>G r.(?) p.(His110Arg) g.60214162T>C Copied from the Exome Variant Server ERCC8_000077 1/13004 1/8598 0/4406 - - - - - - -
?/? c.363T>C r.(=) p.(=) g.60214128A>G Copied from the Exome Variant Server ERCC8_000075 208/13004 194/8598 14/4406 - - - - - - -
?/? c.379T>C r.(?) p.(Trp127Arg) g.60214112A>G Copied from the Exome Variant Server ERCC8_000073 1/13004 1/8598 0/4406 - - - - - - -
?/? c.390T>C r.(=) p.(=) g.60214101A>G Copied from the Exome Variant Server ERCC8_000071 1/13004 1/8598 0/4406 - - - - - - -
?/? c.400-42A>G r.(=) p.(=) g.60200742T>C Copied from the Exome Variant Server ERCC8_000080 205/12992 193/8588 12/4404 - - - - - - -
?/? c.400-21_400-20insTT r.(=) p.(=) g.60200720_60200721insAA Copied from the Exome Variant Server ERCC8_000078 2/12512 1/8246 1/4266 - - - - - - -
?/? c.409G>T r.(?) p.(Val137Leu) g.60200691C>A Copied from the Exome Variant Server ERCC8_000076 3/13002 3/8596 0/4406 - - - - - - -
?/? c.419T>C r.(?) p.(Phe140Ser) g.60200681A>G Copied from the Exome Variant Server ERCC8_000074 2/13002 2/8596 0/4406 - - - - - - -
?/? c.427A>G r.(?) p.(Thr143Ala) g.60200673T>C Copied from the Exome Variant Server ERCC8_000072 1/13002 1/8596 0/4406 - - - - - - -
?/? c.430G>A r.(?) p.(Val144Ile) g.60200670C>T Copied from the Exome Variant Server ERCC8_000070 1/13002 1/8596 0/4406 - - - - - - -
?/? c.435T>C r.(=) p.(=) g.60200665A>G Copied from the Exome Variant Server ERCC8_000069 2655/13002 2258/8596 397/4406 - - - - - - -
?/? c.481G>A r.(?) p.(Val161Ile) g.60200619C>T Copied from the Exome Variant Server ERCC8_000068 1/13002 1/8596 0/4406 - - - - - - -
?/? c.481+8A>G r.(=) p.(=) g.60200611T>C Copied from the Exome Variant Server ERCC8_000067 1/13002 1/8596 0/4406 - - - - - - -
?/? c.481+34C>A r.(=) p.(=) g.60200585G>T Copied from the Exome Variant Server ERCC8_000066 3/13006 3/8600 0/4406 - - - - - - -
?/? c.482-30A>G r.(=) p.(=) g.60199573T>C Copied from the Exome Variant Server ERCC8_000065 1/13002 0/8598 1/4404 - - - - - - -
?/? c.482-17C>T r.(=) p.(=) g.60199560G>A Copied from the Exome Variant Server ERCC8_000064 3/13004 2/8600 1/4404 - - - - - - -
?/? c.504A>G r.(=) p.(=) g.60199521T>C Copied from the Exome Variant Server ERCC8_000063 86/13006 1/8600 85/4406 - - - - - - -
?/? c.509T>C r.(?) p.(Leu170Pro) g.60199516A>G Copied from the Exome Variant Server ERCC8_000062 1/13006 0/8600 1/4406 - - - - - - -
?/? c.546A>G r.(=) p.(=) g.60199479T>C Copied from the Exome Variant Server ERCC8_000061 1/13006 1/8600 0/4406 - - - - - - -
?/? c.550+22C>T r.(=) p.(=) g.60199453G>A Copied from the Exome Variant Server ERCC8_000060 3/13002 2/8598 1/4404 - - - - - - -
?/? c.550+23G>C r.(=) p.(=) g.60199452C>G Copied from the Exome Variant Server ERCC8_000059 1/13002 1/8598 0/4404 - - - - - - -
?/? c.550+42C>T r.(=) p.(=) g.60199433G>A Copied from the Exome Variant Server ERCC8_000058 2/13002 2/8598 0/4404 - - - - - - -
?/? c.550+61G>A r.(=) p.(=) g.60199414C>T Copied from the Exome Variant Server ERCC8_000057 2/7270 0/4616 2/2654 - - - - - - -
?/? c.550+70A>T r.(=) p.(=) g.60199405T>A Copied from the Exome Variant Server ERCC8_000056 3/7268 3/4616 0/2652 - - - - - - -
?/? c.550+73G>A r.(=) p.(=) g.60199402C>T Copied from the Exome Variant Server ERCC8_000055 13/7268 13/4616 0/2652 - - - - - - -
?/? c.550+82G>T r.(=) p.(=) g.60199393C>A Copied from the Exome Variant Server ERCC8_000054 13/7258 12/4612 1/2646 - - - - - - -
?/? c.550+112G>A r.(=) p.(=) g.60199363C>T Copied from the Exome Variant Server ERCC8_000053 4470/7166 2803/4592 1667/2574 - - - - - - -
?/? c.551-41del r.(=) p.(=) g.60198376del Copied from the Exome Variant Server ERCC8_000052 1/12514 1/8248 0/4266 - - - - - - -
?/? c.617+27A>C r.(=) p.(=) g.60198242T>G Copied from the Exome Variant Server ERCC8_000051 1/13002 0/8596 1/4406 - - - - - - -
?/? c.617+43_617+45del r.(=) p.(=) g.60198224_60198226del Copied from the Exome Variant Server ERCC8_000050 6/12498 6/8234 0/4264 - - - - - - -
?/? c.618-18A>T r.(=) p.(=) g.60195572T>A Copied from the Exome Variant Server ERCC8_000049 1/13006 1/8600 0/4406 - - - - - - -
?/? c.655G>C r.(?) p.(Ala219Pro) g.60195517C>G Copied from the Exome Variant Server ERCC8_000048 19/13004 19/8598 0/4406 - - - - - - -
?/? c.659C>T r.(?) p.(Ser220Leu) g.60195513G>A Copied from the Exome Variant Server ERCC8_000047 1/13006 0/8600 1/4406 - - - - - - -
?/? c.679del r.(?) p.(Asp227Ilefs*43) g.60195493del Copied from the Exome Variant Server ERCC8_000046 1/12520 0/8254 1/4266 - - - - - - -
?/? c.683A>C r.(?) p.(Gln228Pro) g.60195489T>G Copied from the Exome Variant Server ERCC8_000045 3/13006 0/8600 3/4406 - - - - - - -
?/? c.719-31C>T r.(=) p.(=) g.60194258G>A Copied from the Exome Variant Server ERCC8_000044 5/12998 5/8596 0/4402 - - - - - - -
?/? c.719-3C>T r.spl? p.? g.60194230G>A Copied from the Exome Variant Server ERCC8_000043 2/13006 2/8600 0/4406 - - - - - - -
?/? c.740A>C r.(?) p.(Lys247Thr) g.60194206T>G Copied from the Exome Variant Server ERCC8_000042 1/13004 1/8600 0/4404 - - - - - - -
?/? c.759T>C r.(=) p.(=) g.60194187A>G Copied from the Exome Variant Server ERCC8_000041 1/13004 0/8600 1/4404 - - - - - - -
?/? c.781C>G r.(?) p.(Leu261Val) g.60194165G>C Copied from the Exome Variant Server ERCC8_000040 1/13006 0/8600 1/4406 - - - - - - -
?/? c.797A>G r.(?) p.(Asp266Gly) g.60194149T>C Copied from the Exome Variant Server ERCC8_000039 1/13004 1/8600 0/4404 - - - - - - -
?/? c.802C>T r.(?) p.(Arg268*) g.60194144G>A Copied from the Exome Variant Server ERCC8_000038 1/13006 0/8600 1/4406 - - - - - - -
?/? c.839C>A r.(?) p.(Thr280Lys) g.60194107G>T Copied from the Exome Variant Server ERCC8_000037 35/13000 30/8596 5/4404 - - - - - - -
?/? c.843+7G>A r.(=) p.(=) g.60194096C>T Copied from the Exome Variant Server ERCC8_000036 7/12998 0/8596 7/4402 - - - - - - -
?/? c.843+24T>G r.(=) p.(=) g.60194079A>C Copied from the Exome Variant Server ERCC8_000033 4/12996 0/8594 4/4402 - - - - - - -
?/? c.844-31G>C r.(=) p.(=) g.60186944C>G Copied from the Exome Variant Server ERCC8_000032 1/12996 1/8596 0/4400 - - - - - - -
?/? c.844-21C>A r.(=) p.(=) g.60186934G>T Copied from the Exome Variant Server ERCC8_000030 1/13000 1/8598 0/4402 - - - - - - -
?/? c.867T>C r.(=) p.(=) g.60186890A>G Copied from the Exome Variant Server ERCC8_000028 1/13006 0/8600 1/4406 - - - - - - -
?/? c.899C>T r.(?) p.(Ser300Phe) g.60186858G>A Copied from the Exome Variant Server ERCC8_000026 1/13006 1/8600 0/4406 - - - - - - -
?/? c.911G>A r.(?) p.(Ser304Asn) g.60186846C>T Copied from the Exome Variant Server ERCC8_000024 2/13006 2/8600 0/4406 - - - - - - -
?/? c.938G>A r.(?) p.(Gly313Asp) g.60186819C>T Copied from the Exome Variant Server ERCC8_000022 1/13006 1/8600 0/4406 - - - - - - -
?/? c.940A>C r.(?) p.(Ser314Arg) g.60186817T>G Copied from the Exome Variant Server ERCC8_000020 1/13004 1/8598 0/4406 - - - - - - -
?/? c.959C>G r.(?) p.(Thr320Arg) g.60186798G>C Copied from the Exome Variant Server ERCC8_000018 1/13004 0/8598 1/4406 - - - - - - -
?/? c.1012G>A r.(?) p.(Asp338Asn) g.60186745C>T Copied from the Exome Variant Server ERCC8_000016 12/13006 11/8600 1/4406 - - - - - - -
?/? c.1022T>C r.(?) p.(Val341Ala) g.60186735A>G Copied from the Exome Variant Server ERCC8_000035 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1023A>G r.(=) p.(=) g.60186734T>C Copied from the Exome Variant Server ERCC8_000034 4/13006 4/8600 0/4406 - - - - - - -
?/? c.1041+45_1041+46insTTGC r.(=) p.(=) g.60186670_60186671insGCAA Copied from the Exome Variant Server ERCC8_000031 2/12512 2/8250 0/4262 - - - - - - -
?/? c.1042-30A>G r.(=) p.(=) g.60183377T>C Copied from the Exome Variant Server ERCC8_000029 3/13006 3/8600 0/4406 - - - - - - -
?/? c.1042-2A>G r.spl? p.? g.60183349T>C Copied from the Exome Variant Server ERCC8_000027 2/13006 2/8600 0/4406 - - - - - - -
?/? c.1048T>C r.(?) p.(Tyr350His) g.60183341A>G Copied from the Exome Variant Server ERCC8_000025 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1068C>A r.(?) p.(Cys356*) g.60183321G>T Copied from the Exome Variant Server ERCC8_000023 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1070A>G r.(?) p.(Asn357Ser) g.60183319T>C Copied from the Exome Variant Server ERCC8_000021 2/13006 2/8600 0/4406 - - - - - - -
?/? c.1080T>C r.(=) p.(=) g.60183309A>G Copied from the Exome Variant Server ERCC8_000019 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1095_1096insA r.(?) p.(Tyr366Ilefs*2) g.60183293_60183294insT Copied from the Exome Variant Server ERCC8_000017 1/12520 1/8254 0/4266 - - - - - - -
?/? c.1122+25A>G r.(=) p.(=) g.60183242T>C Copied from the Exome Variant Server ERCC8_000015 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1122+52A>G r.(=) p.(=) g.60183215T>C Copied from the Exome Variant Server ERCC8_000014 1/10300 0/7164 1/3136 - - - - - - -
?/? c.1123-48A>G r.(=) p.(=) g.60170558T>C Copied from the Exome Variant Server ERCC8_000013 1686/12906 783/8552 903/4354 - - - - - - -
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