Unique variants in gene ERCC2

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

127 entries on 2 pages. Showing entries 1 - 100.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

dbSNP ID     

Genetic origin     

Segregation     

Is Greek Founder     

Owner     
./. 1 - c.-24C>A r.(=) p.(=) g.45873822G>T - ERCC2_000090 - - - - Despoina Kalfakakou
./. 7 - c.5+45_5+46insG r.(=) p.(=) g.45873748_45873749insC - ERCC2_000003 - - - - Despoina Kalfakakou
./. 1 - c.6-11C>T r.(=) p.(=) g.45873501G>A - ERCC2_000098 - - - - Despoina Kalfakakou
./. 5 - c.6-5G>A r.spl? p.? g.45873495C>T - ERCC2_000030 - - - - Despoina Kalfakakou
./. 1 - c.57C>T r.(=) p.(=) g.45873439G>A - ERCC2_000029 - - - - Despoina Kalfakakou
./. 1 - c.86A>C r.(?) p.(Lys29Thr) g.45873410T>G - ERCC2_000028 - - - - Despoina Kalfakakou
./. 1 - c.105+32C>T r.(=) p.(=) g.45873359G>A - ERCC2_000069 - - - - Despoina Kalfakakou
./. 1 - c.183+25A>G r.(=) p.(=) g.45872303T>C - ERCC2_000109 - - - - Despoina Kalfakakou
./. 1 - c.184-34C>T r.(=) p.(=) g.45872284G>A - ERCC2_000002 - - - - Despoina Kalfakakou
./. 1 - c.184-6C>T r.(=) p.(=) g.45872256G>A - ERCC2_000105 - - - - Despoina Kalfakakou
./. 1 - c.184-5G>T r.spl? p.? g.45872255C>A - ERCC2_000036 - - - - Despoina Kalfakakou
./. 1 - c.192G>A r.(=) p.(=) g.45872242C>T - ERCC2_000100 - - - - Despoina Kalfakakou
./. 1 - c.255A>G r.(=) p.(=) g.45871993T>C - ERCC2_000111 - - - - Despoina Kalfakakou
./. 1 - c.275A>G r.(?) p.(Asn92Ser) g.45871973T>C - ERCC2_000070 - - - - Despoina Kalfakakou
./. 1 - c.303G>C r.(?) p.(Lys101Asn) g.45871945C>G - ERCC2_000078 - - - - Despoina Kalfakakou
./. 2 - c.309G>A r.(=) p.(=) g.45871939C>T - ERCC2_000043 - - - - Despoina Kalfakakou
./. 1 - c.360+18C>T r.(=) p.(=) g.45871870G>A - ERCC2_000089 rs1799784 - - - Despoina Kalfakakou
./. 2 - c.373C>T r.(?) p.(Arg125Cys) g.45868404G>A - ERCC2_000056 - - - - Despoina Kalfakakou
./. 2 - c.381G>A r.(=) p.(=) g.45868396C>T - ERCC2_000001 - - - - Despoina Kalfakakou
./. 1 - c.390del r.(?) p.(Asp131Metfs*50) g.45868387del - ERCC2_000115 - - - - Despoina Kalfakakou
./. 1 - c.402C>G r.(?) p.(Cys134Trp) g.45868375G>C - ERCC2_000077 - - - - Despoina Kalfakakou
./. 1 - c.428G>A r.(?) p.(Arg143Gln) g.45868349C>T - ERCC2_000118 - - - - Despoina Kalfakakou
./. 1 - c.442C>T r.(?) p.(His148Tyr) g.45868335G>A - ERCC2_000083 - - - - Despoina Kalfakakou
./. 1 - c.491A>G r.(?) p.(His164Arg) g.45868199T>C - ERCC2_000042 - - - - Despoina Kalfakakou
./. 1 - c.557G>A r.(?) p.(Arg186His) g.45868133C>T - ERCC2_000055 - - - - Despoina Kalfakakou
./. 1 - c.594+2_594+5del r.spl? p.? g.45868091_45868094del - ERCC2_000107 - - - - Despoina Kalfakakou
./. 1 - c.594+32G>A r.(=) p.(=) g.45868064C>T - ERCC2_000053 - - - - Despoina Kalfakakou
./. 5 - c.601C>T r.(?) p.(His201Tyr) g.45867799G>A - ERCC2_000031 rs1799792 - - - Despoina Kalfakakou
./. 1 - c.615G>C r.(=) p.(=) g.45867785C>G - ERCC2_000076 - - - - Despoina Kalfakakou
./. 1 - c.679C>T r.(?) p.(Arg227Cys) g.45867721G>A - ERCC2_000027 - - - - Despoina Kalfakakou
./. 1 - c.687C>T r.(=) p.(=) g.45867713G>A - ERCC2_000041 rs34021577 - - - Despoina Kalfakakou
./. 3 - c.718+14C>T r.(=) p.(=) g.45867668G>A - ERCC2_000013 - - - - Despoina Kalfakakou
./. 1 - c.816-2A>G r.spl? p.? g.45867379T>C - ERCC2_000054 - - - - Despoina Kalfakakou
./. 1 - c.839G>A r.(?) p.(Arg280His) g.45867354C>T - ERCC2_000128 - - - - Despoina Kalfakakou
./. 1 - c.946C>G r.(?) p.(Gln316Glu) g.45867247G>C - ERCC2_000026 - - - - Despoina Kalfakakou
./. 1 - c.949+9C>T r.(=) p.(=) g.45867235G>A - ERCC2_000057 - - - - Despoina Kalfakakou
./. 1 - c.949+21_949+22insT r.(=) p.(=) g.45867222_45867223insA - ERCC2_000117 rs58206829 - - - Despoina Kalfakakou
./. 1 - c.974C>T r.(?) p.(Thr325Met) g.45867145G>A - ERCC2_000068 - - - - Despoina Kalfakakou
./. 1 - c.1033C>T r.(?) p.(Arg345Cys) g.45867086G>A - ERCC2_000075 - - - - Despoina Kalfakakou
./. 4 - c.1106G>A r.(?) p.(Arg369His) g.45867013C>T - ERCC2_000025 - - - - Despoina Kalfakakou
./. 1 - c.1118+21C>T r.(=) p.(=) g.45866980G>A - ERCC2_000047 - - - - Despoina Kalfakakou
./. 1 - c.1118+29G>A r.(=) p.(=) g.45866972C>T - ERCC2_000101 - - - - Despoina Kalfakakou
./. 1 - c.1118+44C>T r.(=) p.(=) g.45866957G>A - ERCC2_000082 - - - - Despoina Kalfakakou
./. 1 - c.1119-5G>A r.spl? p.? g.45864905C>T - ERCC2_000091 - - - - Despoina Kalfakakou
./. 1 - c.1146G>C r.(=) p.(=) g.45864873C>G - ERCC2_000012 - - - - Despoina Kalfakakou
./. 1 - c.1160A>C r.(?) p.(Glu387Ala) g.45864859T>G - ERCC2_000103 - - - - Despoina Kalfakakou
./. 1 - c.1188G>A r.(=) p.(=) g.45864831C>T - ERCC2_000040 - - - - Despoina Kalfakakou
./. 1 - c.1214C>T r.(?) p.(Thr405Ile) g.45864805G>A - ERCC2_000106 - - - - Despoina Kalfakakou
./. 1 - c.1230C>T r.(=) p.(=) g.45864789G>A - ERCC2_000024 - - - - Despoina Kalfakakou
./. 3 - c.1237+20T>A r.(=) p.(=) g.45864762A>T - ERCC2_000011 - - - - Despoina Kalfakakou
./. 1 - c.1238-44G>T r.(=) p.(=) g.45861001C>A - ERCC2_000066 - - - - Despoina Kalfakakou
./. 1 - c.1267G>A r.(?) p.(Asp423Asn) g.45860928C>T - ERCC2_000074 - - - - Despoina Kalfakakou
./. 1 - c.1307+14C>T r.(=) p.(=) g.45860874G>A - ERCC2_000119 - - - - Despoina Kalfakakou
./. 1 - c.1307+42G>A r.(=) p.(=) g.45860846C>T - ERCC2_000065 - - - - Despoina Kalfakakou
./. 2 - c.1308-30_1308-29insC r.(=) p.(=) g.45860830_45860831insG - ERCC2_000010 - - - - Despoina Kalfakakou
./. 1 - c.1308-22C>T r.(=) p.(=) g.45860823G>A - ERCC2_000088 - - - - Despoina Kalfakakou
./. 3 - c.1308-10C>T r.(=) p.(=) g.45860811G>A - ERCC2_000097 - - - - Despoina Kalfakakou
./. 1 - c.1317C>T r.(=) p.(=) g.45860792G>A - ERCC2_000023 - - - - Despoina Kalfakakou
./. 1 - c.1339G>A r.(?) p.(Val447Ile) g.45860770C>T - ERCC2_000033 - - - - Despoina Kalfakakou
./. 1 - c.1377G>A r.(=) p.(=) g.45860732C>T - ERCC2_000046 - - - - Despoina Kalfakakou
./. 2 - c.1377+8C>T r.(=) p.(=) g.45860724G>A - ERCC2_000022 - - - - Despoina Kalfakakou
./. 1 - c.1377+16C>T r.(=) p.(=) g.45860716G>A - ERCC2_000096 - - - - Despoina Kalfakakou
./. 2 - c.1377+27A>G r.(=) p.(=) g.45860705T>C - ERCC2_000032 - - - - Despoina Kalfakakou
./. 1 - c.1378-37C>G r.(=) p.(=) g.45860666G>C - ERCC2_000009 - - - - Despoina Kalfakakou
./. 3 - c.1378-8C>T r.(=) p.(=) g.45860637G>A - ERCC2_000008 - - - - Despoina Kalfakakou
./. 1 - c.1389G>A r.(=) p.(=) g.45860618C>T - ERCC2_000064 - - - - Despoina Kalfakakou
./. 5 - c.1403C>T r.(?) p.(Pro468Leu) g.45860604G>A - ERCC2_000045 - - - - Despoina Kalfakakou
./. 1 - c.1479+31G>A r.(=) p.(=) g.45860497C>T - ERCC2_000124 - - - - Despoina Kalfakakou
./. 1 - c.1480-22C>T r.(=) p.(=) g.45859008G>A - ERCC2_000080 - - - - Despoina Kalfakakou
./. 2 - c.1480-17C>T r.(=) p.(=) g.45859003G>A - ERCC2_000081 - - - - Despoina Kalfakakou
./. 1 - c.1532G>A r.(?) p.(Arg511Gln) g.45858934C>T - ERCC2_000062 - - - - Despoina Kalfakakou
./. 1 - c.1544-52_1544-51del r.(=) p.(=) g.45858160_45858161del - ERCC2_000007 - - - - Despoina Kalfakakou
./. 2 - c.1544-10C>T r.(=) p.(=) g.45858119G>A - ERCC2_000099 - - - - Despoina Kalfakakou
./. 2 - c.1576G>A r.(?) p.(Glu526Lys) g.45858077C>T - ERCC2_000006 - - - - Despoina Kalfakakou
./. 1 - c.1584C>A r.(=) p.(=) g.45858069G>T - ERCC2_000072 - - - - Despoina Kalfakakou
./. 1 - c.1585G>A r.(?) p.(Ala529Thr) g.45858068C>T - ERCC2_000021 - - - - Despoina Kalfakakou
./. 1 - c.1665+4C>T r.spl? p.? g.45857984G>A - ERCC2_000005 - - - - Despoina Kalfakakou
./. 4 - c.1665+31C>T r.(=) p.(=) g.45857957G>A - ERCC2_000044 - - - - Despoina Kalfakakou
./. 1 - c.1665+38C>G r.(=) p.(=) g.45857950G>C - ERCC2_000085 - - - - Despoina Kalfakakou
./. 2 - c.1666-39G>A r.(=) p.(=) g.45856631C>T - ERCC2_000020 - - - - Despoina Kalfakakou
./. 1 - c.1666-31C>G r.(=) p.(=) g.45856623G>C - ERCC2_000067 - - - - Despoina Kalfakakou
./. 1 - c.1707del r.(?) p.(Ile569Metfs*140) g.45856551del - ERCC2_000121 - - - - Despoina Kalfakakou
./. 1 - c.1737C>T r.(=) p.(=) g.45856521G>A - ERCC2_000084 rs3916876 - - - Despoina Kalfakakou
./. 1 - c.1758+14G>C r.(=) p.(=) g.45856486C>G - ERCC2_000113 - - - - Despoina Kalfakakou
./. 1 - c.1758+21T>G r.(=) p.(=) g.45856479A>C - ERCC2_000063 - - - - Despoina Kalfakakou
./. 1 - c.1758+32C>A r.(=) p.(=) g.45856468G>T - ERCC2_000019 rs238417 - - - Despoina Kalfakakou
./. 1 - c.1759-16G>C r.(=) p.(=) g.45856429C>G - ERCC2_000061 - - - - Despoina Kalfakakou
./. 1 - c.1775G>A r.(?) p.(Arg592His) g.45856397C>T - ERCC2_000116 - - - - Despoina Kalfakakou
./. 1 - c.1815C>T r.(=) p.(=) g.45856357G>A - ERCC2_000108 - - - - Despoina Kalfakakou
./. 1 - c.1824C>A r.(=) p.(=) g.45856348G>T - ERCC2_000114 - - - - Despoina Kalfakakou
./. 5 - c.1831+26C>T r.(=) p.(=) g.45856315G>A - ERCC2_000058 rs3916878 - - - Despoina Kalfakakou
./. 3 - c.1866C>T r.(=) p.(=) g.45856040G>A - ERCC2_000087 rs16979773 - - - Despoina Kalfakakou
./. 2 - c.1887G>C r.(?) p.(Gln629His) g.45856019C>G - ERCC2_000018 - - - - Despoina Kalfakakou
./. 4 - c.1902+24del r.(=) p.(=) g.45855980del - ERCC2_000004 - - - - Despoina Kalfakakou
./. 1 - c.1902+37T>G r.(=) p.(=) g.45855967A>C - ERCC2_000120 - - - - Despoina Kalfakakou
./. 1 - c.1904C>T r.(?) p.(Ala635Val) g.45855906G>A - ERCC2_000112 rs34517175 - - - Despoina Kalfakakou
./. 1 - c.1945A>G r.(?) p.(Asn649Asp) g.45855865T>C - ERCC2_000095 - - - - Despoina Kalfakakou
./. 1 - c.1972C>T r.(?) p.(Arg658Cys) g.45855838G>A - ERCC2_000102 - - - - Despoina Kalfakakou
./. 1 - c.1977C>T r.(=) p.(=) g.45855833G>A - ERCC2_000060 - - - - Despoina Kalfakakou
./. 4 - c.2009del r.(?) p.(Gly670Alafs*39) g.45855801del - ERCC2_000059 - - - - Despoina Kalfakakou
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