All transcript variants in gene ERCC3

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

203 entries on 3 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

dbSNP ID     

Genetic origin     

Segregation     

Is Greek Founder     

Owner     
./. - c.-51G>A r.(=) p.(=) g.128051708C>T - ERCC3_000037 - - - - Despoina Kalfakakou
./. - c.-46G>T r.(=) p.(=) g.128051703C>A - ERCC3_000022 - - - - Despoina Kalfakakou
./. - c.-19C>T r.(=) p.(=) g.128051676G>A - ERCC3_000008 - - - - Despoina Kalfakakou
./. - c.-19C>T r.(=) p.(=) g.128051676G>A - ERCC3_000008 - - - - Despoina Kalfakakou
./. - c.-19C>T r.(=) p.(=) g.128051676G>A - ERCC3_000008 - - - - Despoina Kalfakakou
./. - c.-19C>T r.(=) p.(=) g.128051676G>A - ERCC3_000008 - - - - Despoina Kalfakakou
./. - c.-19C>T r.(=) p.(=) g.128051676G>A - ERCC3_000008 - - - - Despoina Kalfakakou
./. - c.28+38C>T r.(=) p.(=) g.128051592G>A - ERCC3_000066 - - - - Despoina Kalfakakou
./. - c.29-51G>T r.(=) p.(=) g.128051345C>A - ERCC3_000013 - - - - Despoina Kalfakakou
./. - c.29-51G>T r.(=) p.(=) g.128051345C>A - ERCC3_000013 - - - - Despoina Kalfakakou
./. - c.79G>A r.(?) p.(Glu27Lys) g.128051244C>T - ERCC3_000041 - - - - Despoina Kalfakakou
./. - c.79G>A r.(?) p.(Glu27Lys) g.128051244C>T - ERCC3_000041 - - - - Despoina Kalfakakou
./. - c.231G>T r.(?) p.(Trp77Cys) g.128051092C>A - ERCC3_000023 - - - - Despoina Kalfakakou
./. - c.234+9G>T r.(=) p.(=) g.128051080C>A - ERCC3_000043 - - - - Despoina Kalfakakou
./. - c.234+9G>T r.(=) p.(=) g.128051080C>A - ERCC3_000043 - - - - Despoina Kalfakakou
./. - c.234+9G>T r.(=) p.(=) g.128051080C>A - ERCC3_000043 - - - - Despoina Kalfakakou
./. - c.234+37G>A r.(=) p.(=) g.128051052C>T - ERCC3_000012 - - - - Despoina Kalfakakou
./. - c.235-18C>T r.(=) p.(=) g.128050440G>A - ERCC3_000020 - - - - Despoina Kalfakakou
./. - c.325C>T r.(?) p.(Arg109*) g.128050332G>A - ERCC3_000007 rs34295337 - - - Despoina Kalfakakou
./. - c.325C>T r.(?) p.(Arg109*) g.128050332G>A - ERCC3_000007 rs34295337 - - - Despoina Kalfakakou
./. - c.325C>T r.(?) p.(Arg109*) g.128050332G>A - ERCC3_000007 rs34295337 - - - Despoina Kalfakakou
./. - c.326G>T r.(?) p.(Arg109Leu) g.128050331C>A - ERCC3_000069 - - - - Despoina Kalfakakou
./. - c.417C>T r.(=) p.(=) g.128050240G>A - ERCC3_000039 - - - - Despoina Kalfakakou
./. - c.472-10G>A r.(=) p.(=) g.128047859C>T - ERCC3_000038 - - - - Despoina Kalfakakou
./. - c.472-10G>A r.(=) p.(=) g.128047859C>T - ERCC3_000038 - - - - Despoina Kalfakakou
./. - c.472-10G>A r.(=) p.(=) g.128047859C>T - ERCC3_000038 - - - - Despoina Kalfakakou
./. - c.472-10G>A r.(=) p.(=) g.128047859C>T - ERCC3_000038 - - - - Despoina Kalfakakou
./. - c.576_583del r.(?) p.(Val193Argfs*8) g.128047339_128047346del - ERCC3_000027 - - - - Despoina Kalfakakou
./. - c.577G>A r.(?) p.(Val193Met) g.128047345C>T - ERCC3_000031 - - - - Despoina Kalfakakou
./. - c.618C>T r.(=) p.(=) g.128047304G>A - ERCC3_000006 - - - - Despoina Kalfakakou
./. - c.618C>T r.(=) p.(=) g.128047304G>A - ERCC3_000006 - - - - Despoina Kalfakakou
./. - c.618C>T r.(=) p.(=) g.128047304G>A - ERCC3_000006 - - - - Despoina Kalfakakou
./. - c.618C>T r.(=) p.(=) g.128047304G>A - ERCC3_000006 - - - - Despoina Kalfakakou
./. - c.618C>T r.(=) p.(=) g.128047304G>A - ERCC3_000006 - - - - Despoina Kalfakakou
./. - c.618C>T r.(=) p.(=) g.128047304G>A - ERCC3_000006 - - - - Despoina Kalfakakou
./. - c.618C>T r.(=) p.(=) g.128047304G>A - ERCC3_000006 - - - - Despoina Kalfakakou
./. - c.618C>T r.(=) p.(=) g.128047304G>A - ERCC3_000006 - - - - Despoina Kalfakakou
./. - c.618C>T r.(=) p.(=) g.128047304G>A - ERCC3_000006 - - - - Despoina Kalfakakou
./. - c.618C>T r.(=) p.(=) g.128047304G>A - ERCC3_000006 - - - - Despoina Kalfakakou
./. - c.658-24G>C r.(=) p.(=) g.128047101C>G - ERCC3_000005 rs4150413 - - - Despoina Kalfakakou
./. - c.658-24G>C r.(=) p.(=) g.128047101C>G - ERCC3_000005 rs4150413 - - - Despoina Kalfakakou
./. - c.658-24G>C r.(=) p.(=) g.128047101C>G - ERCC3_000005 rs4150413 - - - Despoina Kalfakakou
./. - c.658-24G>C r.(=) p.(=) g.128047101C>G - ERCC3_000005 rs4150413 - - - Despoina Kalfakakou
./. - c.658-24G>C r.(=) p.(=) g.128047101C>G - ERCC3_000005 rs4150413 - - - Despoina Kalfakakou
./. - c.658-24G>C r.(=) p.(=) g.128047101C>G - ERCC3_000005 rs4150413 - - - Despoina Kalfakakou
./. - c.658-24G>C r.(=) p.(=) g.128047101C>G - ERCC3_000005 rs4150413 - - - Despoina Kalfakakou
./. - c.658-24G>C r.(=) p.(=) g.128047101C>G - ERCC3_000005 rs4150413 - - - Despoina Kalfakakou
./. - c.658-24G>C - - g.128047101C>G - ERCC3_000005 rs4150413 - - - Despoina Kalfakakou
./. - c.658-24G>C r.(=) p.(=) g.128047101C>G - ERCC3_000005 rs4150413 - - - Despoina Kalfakakou
./. - c.658-24G>C r.(=) p.(=) g.128047101C>G - ERCC3_000005 rs4150413 - - - Despoina Kalfakakou
./. - c.658-24G>C r.(=) p.(=) g.128047101C>G - ERCC3_000005 rs4150413 - - - Despoina Kalfakakou
./. - c.658-24G>C r.(=) p.(=) g.128047101C>G - ERCC3_000005 rs4150413 - - - Despoina Kalfakakou
./. - c.658-24G>C r.(=) p.(=) g.128047101C>G - ERCC3_000005 rs4150413 - - - Despoina Kalfakakou
./. - c.658-24G>C r.(=) p.(=) g.128047101C>G - ERCC3_000005 rs4150413 - - - Despoina Kalfakakou
./. - c.658-24G>C r.(=) p.(=) g.128047101C>G - ERCC3_000005 rs4150413 - - - Despoina Kalfakakou
./. - c.658-24G>C r.(=) p.(=) g.128047101C>G - ERCC3_000005 rs4150413 - - - Despoina Kalfakakou
./. - c.658-24G>C r.(=) p.(=) g.128047101C>G - ERCC3_000005 rs4150413 - - - Despoina Kalfakakou
./. - c.658-15C>G r.(=) p.(=) g.128047092G>C - ERCC3_000001 - - - - Despoina Kalfakakou
./. - c.658-15C>G r.(=) p.(=) g.128047092G>C - ERCC3_000001 - - - - Despoina Kalfakakou
./. - c.658-15C>T r.(=) p.(=) g.128047092G>A - ERCC3_000060 - - - - Despoina Kalfakakou
./. - c.658-7C>G r.(=) p.(=) g.128047084G>C - ERCC3_000040 - - - - Despoina Kalfakakou
./. - c.658-7C>G r.(=) p.(=) g.128047084G>C - ERCC3_000040 - - - - Despoina Kalfakakou
./. - c.658-7C>G r.(=) p.(=) g.128047084G>C - ERCC3_000040 - - - - Despoina Kalfakakou
./. - c.658-7C>G r.(=) p.(=) g.128047084G>C - ERCC3_000040 - - - - Despoina Kalfakakou
./. - c.658-7C>G r.(=) p.(=) g.128047084G>C - ERCC3_000040 - - - - Despoina Kalfakakou
./. - c.796_797del r.(?) p.(Gln266Aspfs*5) g.128046938_128046939del - ERCC3_000063 - - - - Despoina Kalfakakou
./. - c.822+14C>T r.(=) p.(=) g.128046899G>A - ERCC3_000024 - - - - Despoina Kalfakakou
./. - c.822+14C>T r.(=) p.(=) g.128046899G>A - ERCC3_000024 - - - - Despoina Kalfakakou
./. - c.822+14C>T r.(=) p.(=) g.128046899G>A - ERCC3_000024 - - - - Despoina Kalfakakou
./. - c.822+14C>T r.(=) p.(=) g.128046899G>A - ERCC3_000024 - - - - Despoina Kalfakakou
./. - c.822+14C>T r.(=) p.(=) g.128046899G>A - ERCC3_000024 - - - - Despoina Kalfakakou
./. - c.823-49T>C r.(=) p.(=) g.128046489A>G - ERCC3_000019 rs72845952 - - - Despoina Kalfakakou
./. - c.823-49T>C r.(=) p.(=) g.128046489A>G - ERCC3_000019 rs72845952 - - - Despoina Kalfakakou
./. - c.823-49T>C r.(=) p.(=) g.128046489A>G - ERCC3_000019 rs72845952 - - - Despoina Kalfakakou
./. - c.823-49T>C r.(=) p.(=) g.128046489A>G - ERCC3_000019 rs72845952 - - - Despoina Kalfakakou
./. - c.823-49T>C r.(=) p.(=) g.128046489A>G - ERCC3_000019 rs72845952 - - - Despoina Kalfakakou
./. - c.823-49T>C r.(=) p.(=) g.128046489A>G - ERCC3_000019 rs72845952 - - - Despoina Kalfakakou
./. - c.823-49T>C r.(=) p.(=) g.128046489A>G - ERCC3_000019 rs72845952 - - - Despoina Kalfakakou
./. - c.823-49T>C r.(=) p.(=) g.128046489A>G - ERCC3_000019 rs72845952 - - - Despoina Kalfakakou
./. - c.835G>A r.(?) p.(Glu279Lys) g.128046428C>T - ERCC3_000072 - - - - Despoina Kalfakakou
./. - c.847C>T r.(?) p.(Arg283Cys) g.128046416G>A - ERCC3_000033 - - - - Despoina Kalfakakou
./. - c.847C>T r.(?) p.(Arg283Cys) g.128046416G>A - ERCC3_000033 - - - - Despoina Kalfakakou
./. - c.864G>A r.(=) p.(=) g.128046399C>T - ERCC3_000018 - - - - Despoina Kalfakakou
./. - c.864G>A r.(=) p.(=) g.128046399C>T - ERCC3_000018 - - - - Despoina Kalfakakou
./. - c.864G>C r.(?) p.(Glu288Asp) g.128046399C>G - ERCC3_000025 - - - - Despoina Kalfakakou
./. - c.901T>G r.(?) p.(Ser301Ala) g.128046362A>C - ERCC3_000067 - - - - Despoina Kalfakakou
./. - c.950G>A r.(?) p.(Arg317Lys) g.128046313C>T - ERCC3_000032 - - - - Despoina Kalfakakou
./. - c.1028-23G>A r.(=) p.(=) g.128044616C>T - ERCC3_000004 - - - - Despoina Kalfakakou
./. - c.1028-23G>A r.(=) p.(=) g.128044616C>T - ERCC3_000004 - - - - Despoina Kalfakakou
./. - c.1028-23G>A r.(=) p.(=) g.128044616C>T - ERCC3_000004 - - - - Despoina Kalfakakou
./. - c.1028-23G>A r.(=) p.(=) g.128044616C>T - ERCC3_000004 - - - - Despoina Kalfakakou
./. - c.1028-23G>A r.(=) p.(=) g.128044616C>T - ERCC3_000004 - - - - Despoina Kalfakakou
./. - c.1078C>T r.(?) p.(Arg360Cys) g.128044543G>A - ERCC3_000050 - - - - Despoina Kalfakakou
./. - c.1104T>A r.(=) p.(=) g.128044517A>T - ERCC3_000058 - - - - Despoina Kalfakakou
./. - c.1110T>C r.(=) p.(=) g.128044511A>G - ERCC3_000017 - - - - Despoina Kalfakakou
./. - c.1120T>A r.(?) p.(Trp374Arg) g.128044501A>T - ERCC3_000052 - - - - Despoina Kalfakakou
./. - c.1155C>T r.(=) p.(=) g.128044466G>A - ERCC3_000044 - - - - Despoina Kalfakakou
./. - c.1155C>T r.(=) p.(=) g.128044466G>A - ERCC3_000044 - - - - Despoina Kalfakakou
./. - c.1155C>T r.(=) p.(=) g.128044466G>A - ERCC3_000044 - - - - Despoina Kalfakakou
./. - c.1155C>T r.(=) p.(=) g.128044466G>A - ERCC3_000044 - - - - Despoina Kalfakakou
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