Full data view for gene ERCC3

Information The variants shown are described using the NM_000122.1 transcript reference sequence.

156 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.-43_-36del r.(=) p.(=) g.128051693_128051700del Copied from the Exome Variant Server ERCC3_000154 4/12302 1/8140 3/4162 - - - - - - -
?/? c.-36G>C r.(=) p.(=) g.128051693C>G Copied from the Exome Variant Server ERCC3_000152 1/12916 1/8554 0/4362 - - - - - - -
?/? c.-34G>A r.(=) p.(=) g.128051691C>T Copied from the Exome Variant Server ERCC3_000150 1/12940 1/8566 0/4374 - - - - - - -
?/? c.-19C>T r.(=) p.(=) g.128051676G>A Copied from the Exome Variant Server ERCC3_000156 14/12978 14/8582 0/4396 - - - - - - -
?/? c.-16_-15insCT r.(=) p.(=) g.128051672_128051673insAG Copied from the Exome Variant Server ERCC3_000155 3/12478 3/8232 0/4246 - - - - - - -
?/? c.6C>G r.(=) p.(=) g.128051652G>C Copied from the Exome Variant Server ERCC3_000153 1/12984 1/8590 0/4394 - - - - - - -
?/? c.28+40T>C r.(=) p.(=) g.128051590A>G Copied from the Exome Variant Server ERCC3_000151 24/12866 0/8518 24/4348 - - - - - - -
?/? c.28+56C>T r.(=) p.(=) g.128051574G>A Copied from the Exome Variant Server ERCC3_000149 43/4518 0/3148 43/1370 - - - - - - -
?/? c.79G>A r.(?) p.(Glu27Lys) g.128051244C>T Copied from the Exome Variant Server ERCC3_000148 1/13006 1/8600 0/4406 - - - - - - -
?/? c.126G>A r.(=) p.(=) g.128051197C>T Copied from the Exome Variant Server ERCC3_000147 1/13006 1/8600 0/4406 - - - - - - -
?/? c.144G>C r.(?) p.(Glu48Asp) g.128051179C>G Copied from the Exome Variant Server ERCC3_000146 4/13006 3/8600 1/4406 - - - - - - -
?/? c.186G>A r.(=) p.(=) g.128051137C>T Copied from the Exome Variant Server ERCC3_000145 1/13006 0/8600 1/4406 - - - - - - -
?/? c.211C>T r.(?) p.(His71Tyr) g.128051112G>A Copied from the Exome Variant Server ERCC3_000144 1/13006 1/8600 0/4406 - - - - - - -
?/? c.216C>T r.(=) p.(=) g.128051107G>A Copied from the Exome Variant Server ERCC3_000143 1/13006 1/8600 0/4406 - - - - - - -
?/? c.234+9G>T r.(=) p.(=) g.128051080C>A Copied from the Exome Variant Server ERCC3_000142 1/13006 1/8600 0/4406 - - - - - - -
?/? c.234+39G>A r.(=) p.(=) g.128051050C>T Copied from the Exome Variant Server ERCC3_000141 2/13006 2/8600 0/4406 - - - - - - -
?/? c.234+40C>T r.(=) p.(=) g.128051049G>A Copied from the Exome Variant Server ERCC3_000140 28/13006 0/8600 28/4406 - - - - - - -
?/? c.279C>T r.(=) p.(=) g.128050378G>A Copied from the Exome Variant Server ERCC3_000139 1/13006 1/8600 0/4406 - - - - - - -
?/? c.314A>G r.(?) p.(Glu105Gly) g.128050343T>C Copied from the Exome Variant Server ERCC3_000138 6/13006 5/8600 1/4406 - - - - - - -
?/? c.325C>T r.(?) p.(Arg109*) g.128050332G>A Copied from the Exome Variant Server ERCC3_000137 6/13006 6/8600 0/4406 - - - - - - -
?/? c.359C>T r.(?) p.(Ala120Val) g.128050298G>A Copied from the Exome Variant Server ERCC3_000136 1/13006 1/8600 0/4406 - - - - - - -
?/? c.385G>A r.(?) p.(Val129Ile) g.128050272C>T Copied from the Exome Variant Server ERCC3_000135 2/13006 2/8600 0/4406 - - - - - - -
?/? c.437C>T r.(?) p.(Thr146Ile) g.128050220G>A Copied from the Exome Variant Server ERCC3_000134 1/13006 0/8600 1/4406 - - - - - - -
?/? c.461A>G r.(?) p.(Gln154Arg) g.128050196T>C Copied from the Exome Variant Server ERCC3_000133 1/13006 1/8600 0/4406 - - - - - - -
?/? c.471+30C>T r.(=) p.(=) g.128050156G>A Copied from the Exome Variant Server ERCC3_000132 40/13006 0/8600 40/4406 - - - - - - -
?/? c.471+52A>G r.(=) p.(=) g.128050134T>C Copied from the Exome Variant Server ERCC3_000131 4223/5734 2849/3982 1374/1752 - - - - - - -
?/? c.472-10G>A r.(=) p.(=) g.128047859C>T Copied from the Exome Variant Server ERCC3_000130 1/13006 1/8600 0/4406 - - - - - - -
?/? c.488A>G r.(?) p.(Tyr163Cys) g.128047833T>C Copied from the Exome Variant Server ERCC3_000129 1/13006 0/8600 1/4406 - - - - - - -
?/? c.521+43T>C r.(=) p.(=) g.128047757A>G Copied from the Exome Variant Server ERCC3_000128 29/13006 0/8600 29/4406 - - - - - - -
?/? c.521+48C>T r.(=) p.(=) g.128047752G>A Copied from the Exome Variant Server ERCC3_000127 26/13006 0/8600 26/4406 - - - - - - -
?/? c.522-21T>G r.(=) p.(=) g.128047421A>C Copied from the Exome Variant Server ERCC3_000126 1/13006 1/8600 0/4406 - - - - - - -
?/? c.529G>A r.(?) p.(Val177Ile) g.128047393C>T Copied from the Exome Variant Server ERCC3_000125 3/13006 2/8600 1/4406 - - - - - - -
?/? c.546T>C r.(=) p.(=) g.128047376A>G Copied from the Exome Variant Server ERCC3_000124 1/13006 1/8600 0/4406 - - - - - - -
?/? c.550G>A r.(?) p.(Val184Ile) g.128047372C>T Copied from the Exome Variant Server ERCC3_000123 1/13006 0/8600 1/4406 - - - - - - -
?/? c.577G>A r.(?) p.(Val193Met) g.128047345C>T Copied from the Exome Variant Server ERCC3_000122 1/13006 0/8600 1/4406 - - - - - - -
?/? c.583C>G r.(?) p.(Arg195Gly) g.128047339G>C Copied from the Exome Variant Server ERCC3_000121 1/13006 1/8600 0/4406 - - - - - - -
?/? c.615G>A r.(=) p.(=) g.128047307C>T Copied from the Exome Variant Server ERCC3_000120 52/13006 0/8600 52/4406 - - - - - - -
?/? c.618C>T r.(=) p.(=) g.128047304G>A Copied from the Exome Variant Server ERCC3_000119 10/13006 8/8600 2/4406 - - - - - - -
?/? c.620C>G r.(?) p.(Thr207Ser) g.128047302G>C Copied from the Exome Variant Server ERCC3_000118 1/13006 1/8600 0/4406 - - - - - - -
?/? c.655G>A r.(?) p.(Ala219Thr) g.128047267C>T Copied from the Exome Variant Server ERCC3_000117 1/13006 1/8600 0/4406 - - - - - - -
?/? c.657+16G>C r.(=) p.(=) g.128047249C>G Copied from the Exome Variant Server ERCC3_000116 3/13006 0/8600 3/4406 - - - - - - -
?/? c.657+24T>G r.(=) p.(=) g.128047241A>C Copied from the Exome Variant Server ERCC3_000115 1/13006 1/8600 0/4406 - - - - - - -
?/? c.657+30G>A r.(=) p.(=) g.128047235C>T Copied from the Exome Variant Server ERCC3_000114 1/13006 1/8600 0/4406 - - - - - - -
?/? c.657+36A>T r.(=) p.(=) g.128047229T>A Copied from the Exome Variant Server ERCC3_000113 1/13006 1/8600 0/4406 - - - - - - -
?/? c.658-30G>A r.(=) p.(=) g.128047107C>T Copied from the Exome Variant Server ERCC3_000112 1/13006 1/8600 0/4406 - - - - - - -
?/? c.658-25C>T r.(=) p.(=) g.128047102G>A Copied from the Exome Variant Server ERCC3_000111 2/13006 0/8600 2/4406 - - - - - - -
?/? c.658-24G>C r.(=) p.(=) g.128047101C>G Copied from the Exome Variant Server ERCC3_000109 21/13006 11/8600 10/4406 - - - - - - -
?/? c.658-7C>G r.(=) p.(=) g.128047084G>C Copied from the Exome Variant Server ERCC3_000107 1/13006 1/8600 0/4406 - - - - - - -
?/? c.659T>G r.(?) p.(Ile220Ser) g.128047076A>C Copied from the Exome Variant Server ERCC3_000105 1/13006 1/8600 0/4406 - - - - - - -
?/? c.714A>G r.(=) p.(=) g.128047021T>C Copied from the Exome Variant Server ERCC3_000103 1/13006 0/8600 1/4406 - - - - - - -
?/? c.741C>T r.(=) p.(=) g.128046994G>A Copied from the Exome Variant Server ERCC3_000101 1/13006 0/8600 1/4406 - - - - - - -
?/? c.789_791del r.(?) p.(Glu264del) g.128046944_128046946del Copied from the Exome Variant Server ERCC3_000099 59/12520 43/8254 16/4266 - - - - - - -
?/? c.822+14C>T r.(=) p.(=) g.128046899G>A Copied from the Exome Variant Server ERCC3_000097 17/13006 17/8600 0/4406 - - - - - - -
?/? c.823-49T>C r.(=) p.(=) g.128046489A>G Copied from the Exome Variant Server ERCC3_000110 94/13006 86/8600 8/4406 - - - - - - -
?/? c.823-21C>T r.(=) p.(=) g.128046461G>A Copied from the Exome Variant Server ERCC3_000108 2/13006 2/8600 0/4406 - - - - - - -
?/? c.847C>T r.(?) p.(Arg283Cys) g.128046416G>A Copied from the Exome Variant Server ERCC3_000106 18/13006 14/8600 4/4406 - - - - - - -
?/? c.877G>A r.(?) p.(Ala293Thr) g.128046386C>T Copied from the Exome Variant Server ERCC3_000104 1/13006 1/8600 0/4406 - - - - - - -
?/? c.890T>C r.(?) p.(Phe297Ser) g.128046373A>G Copied from the Exome Variant Server ERCC3_000102 1/13006 1/8600 0/4406 - - - - - - -
?/? c.893G>A r.(?) p.(Arg298Gln) g.128046370C>T Copied from the Exome Variant Server ERCC3_000100 1/13006 1/8600 0/4406 - - - - - - -
?/? c.927C>T r.(=) p.(=) g.128046336G>A Copied from the Exome Variant Server ERCC3_000098 2/13006 2/8600 0/4406 - - - - - - -
?/? c.930A>G r.(=) p.(=) g.128046333T>C Copied from the Exome Variant Server ERCC3_000096 1/13006 1/8600 0/4406 - - - - - - -
?/? c.973C>T r.(?) p.(Arg325*) g.128046290G>A Copied from the Exome Variant Server ERCC3_000095 1/13006 1/8600 0/4406 - - - - - - -
?/? c.993G>A r.(=) p.(=) g.128046270C>T Copied from the Exome Variant Server ERCC3_000094 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1004C>T r.(?) p.(Ser335Leu) g.128046259G>A Copied from the Exome Variant Server ERCC3_000093 4/13006 0/8600 4/4406 - - - - - - -
?/? c.1005G>A r.(=) p.(=) g.128046258C>T Copied from the Exome Variant Server ERCC3_000092 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1008G>A r.(=) p.(=) g.128046255C>T Copied from the Exome Variant Server ERCC3_000091 26/13006 0/8600 26/4406 - - - - - - -
?/? c.1027G>A r.(?) p.(Gly343Ser) g.128046236C>T Copied from the Exome Variant Server ERCC3_000090 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1027+3A>G r.spl? p.? g.128046233T>C Copied from the Exome Variant Server ERCC3_000089 173/13006 0/8600 173/4406 - - - - - - -
?/? c.1027+27G>A r.(=) p.(=) g.128046209C>T Copied from the Exome Variant Server ERCC3_000088 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1028-11G>A r.(=) p.(=) g.128044604C>T Copied from the Exome Variant Server ERCC3_000087 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1049G>T r.(?) p.(Gly350Val) g.128044572C>A Copied from the Exome Variant Server ERCC3_000086 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1053G>C r.(=) p.(=) g.128044568C>G Copied from the Exome Variant Server ERCC3_000085 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1076A>G r.(?) p.(Lys359Arg) g.128044545T>C Copied from the Exome Variant Server ERCC3_000084 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1096A>G r.(?) p.(Asn366Asp) g.128044525T>C Copied from the Exome Variant Server ERCC3_000083 2/13006 1/8600 1/4406 - - - - - - -
?/? c.1111G>C r.(?) p.(Val371Leu) g.128044510C>G Copied from the Exome Variant Server ERCC3_000082 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1116G>A r.(=) p.(=) g.128044505C>T Copied from the Exome Variant Server ERCC3_000081 5/13006 0/8600 5/4406 - - - - - - -
?/? c.1119G>A r.(=) p.(=) g.128044502C>T Copied from the Exome Variant Server ERCC3_000080 209/13006 2/8600 207/4406 - - - - - - -
?/? c.1120_1121insAGCAGT r.(?) p.(Trp374*) g.128044500_128044501insACTGCT Copied from the Exome Variant Server ERCC3_000079 1/12518 1/8252 0/4266 - - - - - - -
?/? c.1155C>T r.(=) p.(=) g.128044466G>A Copied from the Exome Variant Server ERCC3_000078 2/13006 2/8600 0/4406 - - - - - - -
?/? c.1156G>A r.(?) p.(Asp386Asn) g.128044465C>T Copied from the Exome Variant Server ERCC3_000077 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1159A>T r.(?) p.(Ser387Cys) g.128044462T>A Copied from the Exome Variant Server ERCC3_000076 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1163A>G r.(?) p.(Gln388Arg) g.128044458T>C Copied from the Exome Variant Server ERCC3_000075 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1212C>T r.(=) p.(=) g.128044409G>A Copied from the Exome Variant Server ERCC3_000074 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1213G>A r.(?) p.(Val405Ile) g.128044408C>T Copied from the Exome Variant Server ERCC3_000073 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1245C>T r.(=) p.(=) g.128044376G>A Copied from the Exome Variant Server ERCC3_000072 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1335C>T r.(=) p.(=) g.128044286G>A Copied from the Exome Variant Server ERCC3_000071 66/13006 2/8600 64/4406 - - - - - - -
?/? c.1342+8G>T r.(=) p.(=) g.128044271C>A Copied from the Exome Variant Server ERCC3_000070 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1342+19A>G r.(=) p.(=) g.128044260T>C Copied from the Exome Variant Server ERCC3_000069 5/13006 4/8600 1/4406 - - - - - - -
?/? c.1342+20_1342+21insAG r.(=) p.(=) g.128044258_128044259insCT Copied from the Exome Variant Server ERCC3_000068 1/12518 1/8252 0/4266 - - - - - - -
?/? c.1348A>G r.(?) p.(Met450Val) g.128038202T>C Copied from the Exome Variant Server ERCC3_000067 3/13006 2/8600 1/4406 - - - - - - -
?/? c.1354C>T r.(?) p.(Arg452*) g.128038196G>A Copied from the Exome Variant Server ERCC3_000066 4/13006 0/8600 4/4406 - - - - - - -
?/? c.1403C>T r.(?) p.(Ala468Val) g.128038147G>A Copied from the Exome Variant Server ERCC3_000064 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1410C>T r.(=) p.(=) g.128038140G>A Copied from the Exome Variant Server ERCC3_000062 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1411G>A r.(?) p.(Val471Ile) g.128038139C>T Copied from the Exome Variant Server ERCC3_000060 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1421_1422insA r.(?) p.(Asp474Glufs*2) g.128038128_128038129insT Copied from the Exome Variant Server ERCC3_000058 5/12520 5/8254 0/4266 - - - - - - -
?/? c.1451T>C r.(?) p.(Ile484Thr) g.128038099A>G Copied from the Exome Variant Server ERCC3_000056 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1468G>A r.(?) p.(Glu490Lys) g.128038082C>T Copied from the Exome Variant Server ERCC3_000054 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1485G>A r.(=) p.(=) g.128038065C>T Copied from the Exome Variant Server ERCC3_000052 186/13006 0/8600 186/4406 - - - - - - -
?/? c.1493A>G r.(?) p.(Asn498Ser) g.128038057T>C Copied from the Exome Variant Server ERCC3_000050 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1523del r.(?) p.(Ala508Valfs*29) g.128038027del Copied from the Exome Variant Server ERCC3_000048 1/12520 1/8254 0/4266 - - - - - - -
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