All transcript variants in gene ERCC5

Information The variants shown are described using the NM_000123.3 transcript reference sequence.

242 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.46C>T r.(?) p.(Gln16*) g.103498662C>T - ERCC5_000034 - - - - Despoina Kalfakakou
./. - c.55C>G r.(?) p.(Pro19Ala) g.103498671C>G - ERCC5_000080 - - - - Despoina Kalfakakou
./. - c.56C>T r.(?) p.(Pro19Leu) g.103498672C>T - ERCC5_000012 rs34291397 - - - Despoina Kalfakakou
./. - c.56C>T r.(?) p.(Pro19Leu) g.103498672C>T - ERCC5_000012 rs34291397 - - - Despoina Kalfakakou
./. - c.56C>T r.(?) p.(Pro19Leu) g.103498672C>T - ERCC5_000012 rs34291397 - - - Despoina Kalfakakou
./. - c.56C>T r.(?) p.(Pro19Leu) g.103498672C>T - ERCC5_000012 rs34291397 - - - Despoina Kalfakakou
./. - c.56C>T r.(?) p.(Pro19Leu) g.103498672C>T - ERCC5_000012 rs34291397 - - - Despoina Kalfakakou
./. - c.56C>T r.(?) p.(Pro19Leu) g.103498672C>T - ERCC5_000012 rs34291397 - - - Despoina Kalfakakou
./. - c.56C>T r.(?) p.(Pro19Leu) g.103498672C>T - ERCC5_000012 rs34291397 - - - Despoina Kalfakakou
./. - c.56C>T r.(?) p.(Pro19Leu) g.103498672C>T - ERCC5_000012 rs34291397 - - - Despoina Kalfakakou
./. - c.56C>T r.(?) p.(Pro19Leu) g.103498672C>T - ERCC5_000012 rs34291397 - - - Despoina Kalfakakou
./. - c.56C>T r.(?) p.(Pro19Leu) g.103498672C>T - ERCC5_000012 rs34291397 - - - Despoina Kalfakakou
./. - c.56C>T r.(?) p.(Pro19Leu) g.103498672C>T - ERCC5_000012 rs34291397 - - - Despoina Kalfakakou
./. - c.56C>T r.(?) p.(Pro19Leu) g.103498672C>T - ERCC5_000012 rs34291397 - - - Despoina Kalfakakou
./. - c.56C>T r.(?) p.(Pro19Leu) g.103498672C>T - ERCC5_000012 rs34291397 - - - Despoina Kalfakakou
./. - c.56C>T r.(?) p.(Pro19Leu) g.103498672C>T - ERCC5_000012 rs34291397 - - - Despoina Kalfakakou
./. - c.56C>T r.(?) p.(Pro19Leu) g.103498672C>T - ERCC5_000012 rs34291397 - - - Despoina Kalfakakou
./. - c.56C>T r.(?) p.(Pro19Leu) g.103498672C>T - ERCC5_000012 rs34291397 - - - Despoina Kalfakakou
./. - c.56C>T r.(?) p.(Pro19Leu) g.103498672C>T - ERCC5_000012 rs34291397 - - - Despoina Kalfakakou
./. - c.56C>T r.(?) p.(Pro19Leu) g.103498672C>T - ERCC5_000012 rs34291397 - - - Despoina Kalfakakou
./. - c.56C>T r.(?) p.(Pro19Leu) g.103498672C>T - ERCC5_000012 rs34291397 - - - Despoina Kalfakakou
./. - c.56C>T r.(?) p.(Pro19Leu) g.103498672C>T - ERCC5_000012 rs34291397 - - - Despoina Kalfakakou
./. - c.56C>T r.(?) p.(Pro19Leu) g.103498672C>T - ERCC5_000012 rs34291397 - - - Despoina Kalfakakou
./. - c.56C>T r.(?) p.(Pro19Leu) g.103498672C>T - ERCC5_000012 rs34291397 - - - Despoina Kalfakakou
./. - c.56C>T r.(?) p.(Pro19Leu) g.103498672C>T - ERCC5_000012 rs34291397 - - - Despoina Kalfakakou
./. - c.56C>T r.(?) p.(Pro19Leu) g.103498672C>T - ERCC5_000012 rs34291397 - - - Despoina Kalfakakou
./. - c.56C>T r.(?) p.(Pro19Leu) g.103498672C>T - ERCC5_000012 rs34291397 - - - Despoina Kalfakakou
./. - c.56C>T r.(?) p.(Pro19Leu) g.103498672C>T - ERCC5_000012 rs34291397 - - - Despoina Kalfakakou
./. - c.56C>T r.(?) p.(Pro19Leu) g.103498672C>T - ERCC5_000012 rs34291397 - - - Despoina Kalfakakou
./. - c.56C>T r.(?) p.(Pro19Leu) g.103498672C>T - ERCC5_000012 rs34291397 - - - Despoina Kalfakakou
./. - c.56C>T r.(?) p.(Pro19Leu) g.103498672C>T - ERCC5_000012 rs34291397 - - - Despoina Kalfakakou
./. - c.56C>T r.(?) p.(Pro19Leu) g.103498672C>T - ERCC5_000012 rs34291397 - - - Despoina Kalfakakou
./. - c.89-48G>A r.(=) p.(=) g.103504420G>A - ERCC5_000011 - - - - Despoina Kalfakakou
./. - c.89-48G>A r.(=) p.(=) g.103504420G>A - ERCC5_000011 - - - - Despoina Kalfakakou
./. - c.89-48G>A r.(=) p.(=) g.103504420G>A - ERCC5_000011 - - - - Despoina Kalfakakou
./. - c.89-48G>A r.(=) p.(=) g.103504420G>A - ERCC5_000011 - - - - Despoina Kalfakakou
./. - c.89-48G>A r.(=) p.(=) g.103504420G>A - ERCC5_000011 - - - - Despoina Kalfakakou
./. - c.89-48G>A r.(=) p.(=) g.103504420G>A - ERCC5_000011 - - - - Despoina Kalfakakou
./. - c.89-48G>A r.(=) p.(=) g.103504420G>A - ERCC5_000011 - - - - Despoina Kalfakakou
./. - c.89-27A>G r.(=) p.(=) g.103504441A>G - ERCC5_000078 - - - - Despoina Kalfakakou
./. - c.89-17A>G r.(=) p.(=) g.103504451A>G - ERCC5_000059 - - - - Despoina Kalfakakou
./. - c.89-10A>T r.(=) p.(=) g.103504458A>T - ERCC5_000005 - - - - Despoina Kalfakakou
./. - c.240T>G r.(=) p.(=) g.103504619T>G - ERCC5_000057 - - - - Despoina Kalfakakou
./. - c.264+10G>A r.(=) p.(=) g.103504653G>A - ERCC5_000042 - - - - Despoina Kalfakakou
./. - c.264+34T>G r.(=) p.(=) g.103504677T>G - ERCC5_000033 - - - - Despoina Kalfakakou
./. - c.264+34T>G r.(=) p.(=) g.103504677T>G - ERCC5_000033 - - - - Despoina Kalfakakou
./. - c.264+34T>G r.(=) p.(=) g.103504677T>G - ERCC5_000033 - - - - Despoina Kalfakakou
./. - c.264+34T>G r.(=) p.(=) g.103504677T>G - ERCC5_000033 - - - - Despoina Kalfakakou
./. - c.264+34T>G r.(=) p.(=) g.103504677T>G - ERCC5_000033 - - - - Despoina Kalfakakou
./. - c.264+34T>G r.(=) p.(=) g.103504677T>G - ERCC5_000033 - - - - Despoina Kalfakakou
./. - c.264+34T>G r.(=) p.(=) g.103504677T>G - ERCC5_000033 - - - - Despoina Kalfakakou
./. - c.264+34T>G r.(=) p.(=) g.103504677T>G - ERCC5_000033 - - - - Despoina Kalfakakou
./. - c.264+34T>G r.(=) p.(=) g.103504677T>G - ERCC5_000033 - - - - Despoina Kalfakakou
./. - c.264+34T>G r.(=) p.(=) g.103504677T>G - ERCC5_000033 - - - - Despoina Kalfakakou
./. - c.264+45T>C r.(=) p.(=) g.103504688T>C - ERCC5_000063 - - - - Despoina Kalfakakou
./. - c.270G>A r.(=) p.(=) g.103506112G>A - ERCC5_000013 - - - - Despoina Kalfakakou
./. - c.270G>A r.(=) p.(=) g.103506112G>A - ERCC5_000013 - - - - Despoina Kalfakakou
./. - c.274A>T r.(?) p.(Arg92Trp) g.103506116A>T - ERCC5_000014 - - - - Despoina Kalfakakou
./. - c.303C>G r.(?) p.(Asp101Glu) g.103506145C>G - ERCC5_000015 - - - - Despoina Kalfakakou
./. - c.330G>A r.(=) p.(=) g.103506172G>A - ERCC5_000016 - - - - Despoina Kalfakakou
./. - c.330G>A r.(=) p.(=) g.103506172G>A - ERCC5_000016 - - - - Despoina Kalfakakou
./. - c.330G>A r.(=) p.(=) g.103506172G>A - ERCC5_000016 - - - - Despoina Kalfakakou
./. - c.330G>A r.(=) p.(=) g.103506172G>A - ERCC5_000016 - - - - Despoina Kalfakakou
./. - c.330G>A r.(=) p.(=) g.103506172G>A - ERCC5_000016 - - - - Despoina Kalfakakou
./. - c.330G>A r.(=) p.(=) g.103506172G>A - ERCC5_000016 - - - - Despoina Kalfakakou
./. - c.369C>T r.(=) p.(=) g.103506211C>T - ERCC5_000081 - - - - Despoina Kalfakakou
./. - c.381-23T>G r.(=) p.(=) g.103506615T>G - ERCC5_000037 - - - - Despoina Kalfakakou
./. - c.381-23T>G r.(=) p.(=) g.103506615T>G - ERCC5_000037 - - - - Despoina Kalfakakou
./. - c.381-23T>G r.(=) p.(=) g.103506615T>G - ERCC5_000037 - - - - Despoina Kalfakakou
./. - c.468-23G>C r.(=) p.(=) g.103508379G>C - ERCC5_000050 - - - - Despoina Kalfakakou
./. - c.468-23G>C r.(=) p.(=) g.103508379G>C - ERCC5_000050 - - - - Despoina Kalfakakou
./. - c.468-23G>C r.(=) p.(=) g.103508379G>C - ERCC5_000050 - - - - Despoina Kalfakakou
./. - c.468-23G>C r.(=) p.(=) g.103508379G>C - ERCC5_000050 - - - - Despoina Kalfakakou
./. - c.516A>G r.(=) p.(=) g.103508450A>G - ERCC5_000072 - - - - Despoina Kalfakakou
./. - c.525A>G r.(=) p.(=) g.103508459A>G - ERCC5_000082 - - - - Despoina Kalfakakou
./. - c.525A>G r.(=) p.(=) g.103508459A>G - ERCC5_000082 - - - - Despoina Kalfakakou
./. - c.542A>G r.(?) p.(His181Arg) g.103510638A>G - ERCC5_000006 rs4150295 - - - Despoina Kalfakakou
./. - c.542A>G r.(?) p.(His181Arg) g.103510638A>G - ERCC5_000006 rs4150295 - - - Despoina Kalfakakou
./. - c.542A>G r.(?) p.(His181Arg) g.103510638A>G - ERCC5_000006 rs4150295 - - - Despoina Kalfakakou
./. - c.542A>G r.(?) p.(His181Arg) g.103510638A>G - ERCC5_000006 rs4150295 - - - Despoina Kalfakakou
./. - c.542A>G r.(?) p.(His181Arg) g.103510638A>G - ERCC5_000006 rs4150295 - - - Despoina Kalfakakou
./. - c.641G>A r.(?) p.(Arg214His) g.103510737G>A - ERCC5_000060 - - - - Despoina Kalfakakou
./. - c.672+6A>G r.(=) p.(=) g.103510774A>G - ERCC5_000017 - - - - Despoina Kalfakakou
./. - c.832T>A r.(?) p.(Ser278Thr) g.103514016T>A - ERCC5_000038 - - - - Despoina Kalfakakou
./. - c.832T>A r.(?) p.(Ser278Thr) g.103514016T>A - ERCC5_000038 - - - - Despoina Kalfakakou
./. - c.869T>A r.(?) p.(Ile290Asn) g.103514053T>A - ERCC5_000055 - - - - Despoina Kalfakakou
./. - c.880+9C>T r.(=) p.(=) g.103514073C>T - ERCC5_000070 - - - - Despoina Kalfakakou
./. - c.881-30A>G r.(=) p.(=) g.103514350A>G - ERCC5_000018 - - - - Despoina Kalfakakou
./. - c.881-30A>G r.(=) p.(=) g.103514350A>G - ERCC5_000018 - - - - Despoina Kalfakakou
./. - c.881-30A>G r.(=) p.(=) g.103514350A>G - ERCC5_000018 - - - - Despoina Kalfakakou
./. - c.881-30A>G r.(=) p.(=) g.103514350A>G - ERCC5_000018 - - - - Despoina Kalfakakou
./. - c.881-30A>G r.(=) p.(=) g.103514350A>G - ERCC5_000018 - - - - Despoina Kalfakakou
./. - c.881-26T>G r.(=) p.(=) g.103514354T>G - ERCC5_000054 - - - - Despoina Kalfakakou
./. - c.886C>T r.(?) p.(Gln296*) g.103514385C>T - ERCC5_000056 - - - - Despoina Kalfakakou
./. - c.926C>T r.(?) p.(Pro309Leu) g.103514425C>T - ERCC5_000019 - - - - Despoina Kalfakakou
./. - c.926C>T r.(?) p.(Pro309Leu) g.103514425C>T - ERCC5_000019 - - - - Despoina Kalfakakou
./. - c.926C>T r.(?) p.(Pro309Leu) g.103514425C>T - ERCC5_000019 - - - - Despoina Kalfakakou
./. - c.926C>T r.(?) p.(Pro309Leu) g.103514425C>T - ERCC5_000019 - - - - Despoina Kalfakakou
./. - c.926C>T r.(?) p.(Pro309Leu) g.103514425C>T - ERCC5_000019 - - - - Despoina Kalfakakou
./. - c.926C>T r.(?) p.(Pro309Leu) g.103514425C>T - ERCC5_000019 - - - - Despoina Kalfakakou
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