Unique variants in gene ERCC3

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

72 entries on 1 page. Showing entries 1 - 72.
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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.-51G>A r.(=) p.(=) g.128051708C>T - ERCC3_000037 - - - - Despoina Kalfakakou
./. 1 - c.-46G>T r.(=) p.(=) g.128051703C>A - ERCC3_000022 - - - - Despoina Kalfakakou
./. 5 - c.-19C>T r.(=) p.(=) g.128051676G>A - ERCC3_000008 - - - - Despoina Kalfakakou
./. 1 - c.28+38C>T r.(=) p.(=) g.128051592G>A - ERCC3_000066 - - - - Despoina Kalfakakou
./. 2 - c.29-51G>T r.(=) p.(=) g.128051345C>A - ERCC3_000013 - - - - Despoina Kalfakakou
./. 2 - c.79G>A r.(?) p.(Glu27Lys) g.128051244C>T - ERCC3_000041 - - - - Despoina Kalfakakou
./. 1 - c.231G>T r.(?) p.(Trp77Cys) g.128051092C>A - ERCC3_000023 - - - - Despoina Kalfakakou
./. 3 - c.234+9G>T r.(=) p.(=) g.128051080C>A - ERCC3_000043 - - - - Despoina Kalfakakou
./. 1 - c.234+37G>A r.(=) p.(=) g.128051052C>T - ERCC3_000012 - - - - Despoina Kalfakakou
./. 1 - c.235-18C>T r.(=) p.(=) g.128050440G>A - ERCC3_000020 - - - - Despoina Kalfakakou
./. 3 - c.325C>T r.(?) p.(Arg109*) g.128050332G>A - ERCC3_000007 rs34295337 - - - Despoina Kalfakakou
./. 1 - c.326G>T r.(?) p.(Arg109Leu) g.128050331C>A - ERCC3_000069 - - - - Despoina Kalfakakou
./. 1 - c.417C>T r.(=) p.(=) g.128050240G>A - ERCC3_000039 - - - - Despoina Kalfakakou
./. 4 - c.472-10G>A r.(=) p.(=) g.128047859C>T - ERCC3_000038 - - - - Despoina Kalfakakou
./. 1 - c.576_583del r.(?) p.(Val193Argfs*8) g.128047339_128047346del - ERCC3_000027 - - - - Despoina Kalfakakou
./. 1 - c.577G>A r.(?) p.(Val193Met) g.128047345C>T - ERCC3_000031 - - - - Despoina Kalfakakou
./. 10 - c.618C>T r.(=) p.(=) g.128047304G>A - ERCC3_000006 - - - - Despoina Kalfakakou
./. 18 - c.658-24G>C r.(=) p.(=) g.128047101C>G - ERCC3_000005 rs4150413 - - - Despoina Kalfakakou
./. 2 - c.658-15C>G r.(=) p.(=) g.128047092G>C - ERCC3_000001 - - - - Despoina Kalfakakou
./. 1 - c.658-15C>T r.(=) p.(=) g.128047092G>A - ERCC3_000060 - - - - Despoina Kalfakakou
./. 5 - c.658-7C>G r.(=) p.(=) g.128047084G>C - ERCC3_000040 - - - - Despoina Kalfakakou
./. 1 - c.796_797del r.(?) p.(Gln266Aspfs*5) g.128046938_128046939del - ERCC3_000063 - - - - Despoina Kalfakakou
./. 5 - c.822+14C>T r.(=) p.(=) g.128046899G>A - ERCC3_000024 - - - - Despoina Kalfakakou
./. 8 - c.823-49T>C r.(=) p.(=) g.128046489A>G - ERCC3_000019 rs72845952 - - - Despoina Kalfakakou
./. 1 - c.835G>A r.(?) p.(Glu279Lys) g.128046428C>T - ERCC3_000072 - - - - Despoina Kalfakakou
./. 2 - c.847C>T r.(?) p.(Arg283Cys) g.128046416G>A - ERCC3_000033 - - - - Despoina Kalfakakou
./. 2 - c.864G>A r.(=) p.(=) g.128046399C>T - ERCC3_000018 - - - - Despoina Kalfakakou
./. 1 - c.864G>C r.(?) p.(Glu288Asp) g.128046399C>G - ERCC3_000025 - - - - Despoina Kalfakakou
./. 1 - c.901T>G r.(?) p.(Ser301Ala) g.128046362A>C - ERCC3_000067 - - - - Despoina Kalfakakou
./. 1 - c.950G>A r.(?) p.(Arg317Lys) g.128046313C>T - ERCC3_000032 - - - - Despoina Kalfakakou
./. 5 - c.1028-23G>A r.(=) p.(=) g.128044616C>T - ERCC3_000004 - - - - Despoina Kalfakakou
./. 1 - c.1078C>T r.(?) p.(Arg360Cys) g.128044543G>A - ERCC3_000050 - - - - Despoina Kalfakakou
./. 1 - c.1104T>A r.(=) p.(=) g.128044517A>T - ERCC3_000058 - - - - Despoina Kalfakakou
./. 1 - c.1110T>C r.(=) p.(=) g.128044511A>G - ERCC3_000017 - - - - Despoina Kalfakakou
./. 1 - c.1120T>A r.(?) p.(Trp374Arg) g.128044501A>T - ERCC3_000052 - - - - Despoina Kalfakakou
./. 5 - c.1155C>T r.(=) p.(=) g.128044466G>A - ERCC3_000044 - - - - Despoina Kalfakakou
./. 1 - c.1203C>T r.(=) p.(=) g.128044418G>A - ERCC3_000059 - - - - Despoina Kalfakakou
./. 1 - c.1213G>A r.(?) p.(Val405Ile) g.128044408C>T - ERCC3_000055 - - - - Despoina Kalfakakou
./. 2 - c.1270G>A r.(?) p.(Glu424Lys) g.128044351C>T - ERCC3_000047 - - - - Despoina Kalfakakou
./. 2 - c.1342+26C>T r.(=) p.(=) g.128044253G>A - ERCC3_000003 - - - - Despoina Kalfakakou
./. 7 - c.1527+24G>A r.(=) p.(=) g.128037999C>T - ERCC3_000016 rs4150457 - - - Despoina Kalfakakou
./. 1 - c.1528-24C>A r.(=) p.(=) g.128036975G>T - ERCC3_000068 rs4150462 - - - Despoina Kalfakakou
./. 1 - c.1653T>C r.(=) p.(=) g.128036826A>G - ERCC3_000062 - - - - Despoina Kalfakakou
./. 1 - c.1730A>G r.(?) p.(Lys577Arg) g.128036749T>C - ERCC3_000070 - - - - Despoina Kalfakakou
./. 1 - c.1730+16T>G r.(=) p.(=) g.128036733A>C - ERCC3_000057 - - - - Despoina Kalfakakou
./. 2 - c.1731-32C>T r.(=) p.(=) g.128030569G>A - ERCC3_000002 - - - - Despoina Kalfakakou
./. 1 - c.1743C>T r.(=) p.(=) g.128030525G>A - ERCC3_000045 - - - - Despoina Kalfakakou
./. 1 - c.1752G>A r.(=) p.(=) g.128030516C>T - ERCC3_000061 - - - - Despoina Kalfakakou
./. 2 - c.1762_1763insG r.(?) p.(Glu588Glyfs*16) g.128030505_128030506insC - ERCC3_000042 - - - - Despoina Kalfakakou
./. 1 - c.1827+36A>G r.(=) p.(=) g.128030405T>C - ERCC3_000026 - - - - Despoina Kalfakakou
./. 1 - c.1828-37del r.(=) p.(=) g.128029066del - ERCC3_000030 - - - - Despoina Kalfakakou
./. 1 - c.1828-37dup r.(=) p.(=) g.128029066dup - ERCC3_000029 - - - - Despoina Kalfakakou
./. 4 - c.1828-28A>G r.(=) p.(=) g.128029057T>C - ERCC3_000011 - - - - Despoina Kalfakakou
./. 1 - c.1828-14A>G r.(=) p.(=) g.128029043T>C - ERCC3_000035 - - - - Despoina Kalfakakou
./. 1 - c.1926G>A r.(=) p.(=) g.128028931C>T - ERCC3_000051 - - - - Despoina Kalfakakou
./. 2 - c.1933C>T r.(?) p.(Arg645*) g.128028924G>A - ERCC3_000036 - - - - Despoina Kalfakakou
./. 1 - c.1945+10C>A r.(=) p.(=) g.128028902G>T - ERCC3_000028 - - - - Despoina Kalfakakou
./. 2 - c.1945+10C>G r.(=) p.(=) g.128028902G>C - ERCC3_000054 - - - - Despoina Kalfakakou
./. 7 - c.1946-22C>T r.(=) p.(=) g.128018944G>A - ERCC3_000010 - - - - Despoina Kalfakakou
./. 1 - c.1946-21G>A r.(=) p.(=) g.128018943C>T - ERCC3_000053 rs3817088 - - - Despoina Kalfakakou
./. 1 - c.1960G>A r.(?) p.(Glu654Lys) g.128018908C>T - ERCC3_000046 - - - - Despoina Kalfakakou
./. 27 - c.2080G>A r.(?) p.(Ala694Thr) g.128017009C>T - ERCC3_000009 - - - - Despoina Kalfakakou
./. 17 - c.2111C>T r.(?) p.(Ser704Leu) g.128016978G>A - ERCC3_000015 rs4150521 - - - Despoina Kalfakakou
./. 1 - c.2172C>T r.(=) p.(=) g.128016917G>A - ERCC3_000056 - - - - Despoina Kalfakakou
./. 1 - c.2207G>T r.(?) p.(Arg736Ile) g.128016882C>A - ERCC3_000014 - - - - Despoina Kalfakakou
./. 1 - c.2217+39C>G r.(=) p.(=) g.128016833G>C - ERCC3_000064 - - - - Despoina Kalfakakou
./. 1 - c.2218-50G>A r.(=) p.(=) g.128015353C>T - ERCC3_000048 - - - - Despoina Kalfakakou
./. 1 - c.2324C>T r.(?) p.(Pro775Leu) g.128015197G>A - ERCC3_000049 - - - - Despoina Kalfakakou
./. 1 - c.2331C>T r.(=) p.(=) g.128015190G>A - ERCC3_000021 - - - - Despoina Kalfakakou
./. 1 - c.2333A>G r.(?) p.(Lys778Arg) g.128015188T>C - ERCC3_000071 - - - - Despoina Kalfakakou
./. 1 - c.*12G>A r.(=) p.(=) g.128015160C>T - ERCC3_000065 - - - - Despoina Kalfakakou
./. 4 - c.*32C>T r.(=) p.(=) g.128015140G>A - ERCC3_000034 - - - - Despoina Kalfakakou
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