All transcript variants in gene ERCC4

Information The variants shown are described using the NM_005236.2 transcript reference sequence.

174 entries on 2 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.16C>T r.(?) p.(Pro6Ser) g.14014038C>T - ERCC4_000023 rs61760160 - - - Despoina Kalfakakou
./. - c.16C>T r.(?) p.(Pro6Ser) g.14014038C>T - ERCC4_000023 rs61760160 - - - Despoina Kalfakakou
./. - c.105C>T r.(=) p.(=) g.14014127C>T - ERCC4_000046 - - - - Despoina Kalfakakou
./. - c.122C>G r.(?) p.(Ala41Gly) g.14014144C>G - ERCC4_000007 - - - - Despoina Kalfakakou
./. - c.217A>G r.(?) p.(Ile73Val) g.14015897A>G - ERCC4_000024 - - - - Despoina Kalfakakou
./. - c.252C>T r.(=) p.(=) g.14015932C>T - ERCC4_000001 rs3136056 - - - Despoina Kalfakakou
./. - c.252C>T r.(=) p.(=) g.14015932C>T - ERCC4_000001 rs3136056 - - - Despoina Kalfakakou
./. - c.252C>T r.(=) p.(=) g.14015932C>T - ERCC4_000001 rs3136056 - - - Despoina Kalfakakou
./. - c.252C>T r.(=) p.(=) g.14015932C>T - ERCC4_000001 rs3136056 - - - Despoina Kalfakakou
./. - c.252C>T r.(=) p.(=) g.14015932C>T - ERCC4_000001 rs3136056 - - - Despoina Kalfakakou
./. - c.252C>T r.(=) p.(=) g.14015932C>T - ERCC4_000001 rs3136056 - - - Despoina Kalfakakou
./. - c.252C>T r.(=) p.(=) g.14015932C>T - ERCC4_000001 rs3136056 - - - Despoina Kalfakakou
./. - c.252C>T r.(=) p.(=) g.14015932C>T - ERCC4_000001 rs3136056 - - - Despoina Kalfakakou
./. - c.252C>T r.(=) p.(=) g.14015932C>T - ERCC4_000001 rs3136056 - - - Despoina Kalfakakou
./. - c.252C>T r.(=) p.(=) g.14015932C>T - ERCC4_000001 rs3136056 - - - Despoina Kalfakakou
./. - c.252C>T r.(=) p.(=) g.14015932C>T - ERCC4_000001 rs3136056 - - - Despoina Kalfakakou
./. - c.252C>T r.(=) p.(=) g.14015932C>T - ERCC4_000001 rs3136056 - - - Despoina Kalfakakou
./. - c.252C>T r.(=) p.(=) g.14015932C>T - ERCC4_000001 rs3136056 - - - Despoina Kalfakakou
./. - c.252C>T r.(=) p.(=) g.14015932C>T - ERCC4_000001 rs3136056 - - - Despoina Kalfakakou
./. - c.252C>T r.(=) p.(=) g.14015932C>T - ERCC4_000001 rs3136056 - - - Despoina Kalfakakou
./. - c.252C>T r.(=) p.(=) g.14015932C>T - ERCC4_000001 rs3136056 - - - Despoina Kalfakakou
./. - c.252C>T r.(=) p.(=) g.14015932C>T - ERCC4_000001 rs3136056 - - - Despoina Kalfakakou
./. - c.252C>T r.(=) p.(=) g.14015932C>T - ERCC4_000001 rs3136056 - - - Despoina Kalfakakou
./. - c.252C>T r.(=) p.(=) g.14015932C>T - ERCC4_000001 rs3136056 - - - Despoina Kalfakakou
./. - c.252C>T r.(=) p.(=) g.14015932C>T - ERCC4_000001 rs3136056 - - - Despoina Kalfakakou
./. - c.252C>T r.(=) p.(=) g.14015932C>T - ERCC4_000001 rs3136056 - - - Despoina Kalfakakou
./. - c.290G>A r.(?) p.(Arg97His) g.14015970G>A - ERCC4_000053 - - - - Despoina Kalfakakou
./. - c.389-32T>A r.(=) p.(=) g.14020386T>A - ERCC4_000008 - - - - Despoina Kalfakakou
./. - c.473G>A r.(?) p.(Arg158His) g.14020502G>A - ERCC4_000034 - - - - Despoina Kalfakakou
./. - c.532G>T r.(?) p.(Val178Leu) g.14020561G>T - ERCC4_000048 - - - - Despoina Kalfakakou
./. - c.532G>T r.(?) p.(Val178Leu) g.14020561G>T - ERCC4_000048 - - - - Despoina Kalfakakou
./. - c.532G>T r.(?) p.(Val178Leu) g.14020561G>T - ERCC4_000048 - - - - Despoina Kalfakakou
./. - c.600A>G r.(=) p.(=) g.14021900A>G - ERCC4_000002 - - - - Despoina Kalfakakou
./. - c.703G>A r.(?) p.(Ala235Thr) g.14022003G>A - ERCC4_000009 - - - - Despoina Kalfakakou
./. - c.703G>A r.(?) p.(Ala235Thr) g.14022003G>A - ERCC4_000009 - - - - Despoina Kalfakakou
./. - c.738G>A r.(=) p.(=) g.14022038G>A - ERCC4_000010 - - - - Despoina Kalfakakou
./. - c.738G>A r.(=) p.(=) g.14022038G>A - ERCC4_000010 - - - - Despoina Kalfakakou
./. - c.738G>A r.(=) p.(=) g.14022038G>A - ERCC4_000010 - - - - Despoina Kalfakakou
./. - c.792+50A>G r.(=) p.(=) g.14022142A>G - ERCC4_000047 - - - - Despoina Kalfakakou
./. - c.934T>G r.(?) p.(Ser312Ala) g.14024708T>G - ERCC4_000011 - - - - Despoina Kalfakakou
./. - c.973+51G>A r.(=) p.(=) g.14024798G>A - ERCC4_000028 - - - - Despoina Kalfakakou
./. - c.974-6T>C r.(=) p.(=) g.14026008T>C - ERCC4_000003 - - - - Despoina Kalfakakou
./. - c.974-6T>C r.(=) p.(=) g.14026008T>C - ERCC4_000003 - - - - Despoina Kalfakakou
./. - c.974-6T>C r.(=) p.(=) g.14026008T>C - ERCC4_000003 - - - - Despoina Kalfakakou
./. - c.974-6T>C r.(=) p.(=) g.14026008T>C - ERCC4_000003 - - - - Despoina Kalfakakou
./. - c.974-6T>C r.(=) p.(=) g.14026008T>C - ERCC4_000003 - - - - Despoina Kalfakakou
./. - c.974-6T>C r.(=) p.(=) g.14026008T>C - ERCC4_000003 - - - - Despoina Kalfakakou
./. - c.974-6T>C r.(=) p.(=) g.14026008T>C - ERCC4_000003 - - - - Despoina Kalfakakou
./. - c.974-6T>C r.(=) p.(=) g.14026008T>C - ERCC4_000003 - - - - Despoina Kalfakakou
./. - c.974-6T>C r.(=) p.(=) g.14026008T>C - ERCC4_000003 - - - - Despoina Kalfakakou
./. - c.974-6T>C r.(=) p.(=) g.14026008T>C - ERCC4_000003 - - - - Despoina Kalfakakou
./. - c.974-6T>C r.(=) p.(=) g.14026008T>C - ERCC4_000003 - - - - Despoina Kalfakakou
./. - c.974-6T>C r.(=) p.(=) g.14026008T>C - ERCC4_000003 - - - - Despoina Kalfakakou
./. - c.974-6T>C r.(=) p.(=) g.14026008T>C - ERCC4_000003 - - - - Despoina Kalfakakou
./. - c.974-6T>C r.(=) p.(=) g.14026008T>C - ERCC4_000003 - - - - Despoina Kalfakakou
./. - c.974-6T>C r.(=) p.(=) g.14026008T>C - ERCC4_000003 - - - - Despoina Kalfakakou
./. - c.974-6T>C r.(=) p.(=) g.14026008T>C - ERCC4_000003 - - - - Despoina Kalfakakou
./. - c.974-6T>C r.(=) p.(=) g.14026008T>C - ERCC4_000003 - - - - Despoina Kalfakakou
./. - c.974-6T>C r.(=) p.(=) g.14026008T>C - ERCC4_000003 - - - - Despoina Kalfakakou
./. - c.1013A>G r.(?) p.(Asn338Ser) g.14026053A>G - ERCC4_000041 - - - - Despoina Kalfakakou
./. - c.1102+45A>G r.(=) p.(=) g.14026187A>G - ERCC4_000012 - - - - Despoina Kalfakakou
./. - c.1102+45A>G r.(=) p.(=) g.14026187A>G - ERCC4_000012 - - - - Despoina Kalfakakou
./. - c.1102+45A>G r.(=) p.(=) g.14026187A>G - ERCC4_000012 - - - - Despoina Kalfakakou
./. - c.1102+45A>G r.(=) p.(=) g.14026187A>G - ERCC4_000012 - - - - Despoina Kalfakakou
./. - c.1102+45A>G r.(=) p.(=) g.14026187A>G - ERCC4_000012 - - - - Despoina Kalfakakou
./. - c.1102+45A>G r.(=) p.(=) g.14026187A>G - ERCC4_000012 - - - - Despoina Kalfakakou
./. - c.1102+45A>G r.(=) p.(=) g.14026187A>G - ERCC4_000012 - - - - Despoina Kalfakakou
./. - c.1102+45A>G r.(=) p.(=) g.14026187A>G - ERCC4_000012 - - - - Despoina Kalfakakou
./. - c.1102+45A>G r.(=) p.(=) g.14026187A>G - ERCC4_000012 - - - - Despoina Kalfakakou
./. - c.1102+45A>G r.(=) p.(=) g.14026187A>G - ERCC4_000012 - - - - Despoina Kalfakakou
./. - c.1102+45A>G r.(=) p.(=) g.14026187A>G - ERCC4_000012 - - - - Despoina Kalfakakou
./. - c.1135C>T r.(?) p.(Pro379Ser) g.14028081C>T - ERCC4_000013 rs1799802 - - - Despoina Kalfakakou
./. - c.1135C>T r.(?) p.(Pro379Ser) g.14028081C>T - ERCC4_000013 rs1799802 - - - Despoina Kalfakakou
./. - c.1135C>T r.(?) p.(Pro379Ser) g.14028081C>T - ERCC4_000013 rs1799802 - - - Despoina Kalfakakou
./. - c.1135C>T r.(?) p.(Pro379Ser) g.14028081C>T - ERCC4_000013 rs1799802 - - - Despoina Kalfakakou
./. - c.1135C>T r.(?) p.(Pro379Ser) g.14028081C>T - ERCC4_000013 rs1799802 - - - Despoina Kalfakakou
./. - c.1135C>T r.(?) p.(Pro379Ser) g.14028081C>T - ERCC4_000013 rs1799802 - - - Despoina Kalfakakou
./. - c.1135C>T r.(?) p.(Pro379Ser) g.14028081C>T - ERCC4_000013 rs1799802 - - - Despoina Kalfakakou
./. - c.1135C>T r.(?) p.(Pro379Ser) g.14028081C>T - ERCC4_000013 rs1799802 - - - Despoina Kalfakakou
./. - c.1135C>T r.(?) p.(Pro379Ser) g.14028081C>T - ERCC4_000013 rs1799802 - - - Despoina Kalfakakou
./. - c.1179A>G r.(=) p.(=) g.14028125A>G - ERCC4_000030 - - - - Despoina Kalfakakou
./. - c.1207G>C r.(?) p.(Gly403Arg) g.14028153G>C - ERCC4_000014 - - - - Despoina Kalfakakou
./. - c.1207G>C r.(?) p.(Gly403Arg) g.14028153G>C - ERCC4_000014 - - - - Despoina Kalfakakou
./. - c.1207G>C r.(?) p.(Gly403Arg) g.14028153G>C - ERCC4_000014 - - - - Despoina Kalfakakou
./. - c.1207G>C r.(?) p.(Gly403Arg) g.14028153G>C - ERCC4_000014 - - - - Despoina Kalfakakou
./. - c.1213+26T>C r.(=) p.(=) g.14028185T>C - ERCC4_000032 - - - - Despoina Kalfakakou
./. - c.1258C>T r.(=) p.(=) g.14029047C>T - ERCC4_000042 - - - - Despoina Kalfakakou
./. - c.1258C>T r.(=) p.(=) g.14029047C>T - ERCC4_000042 - - - - Despoina Kalfakakou
./. - c.1283C>T r.(?) p.(Ala428Val) g.14029072C>T - ERCC4_000052 - - - - Despoina Kalfakakou
./. - c.1284G>A r.(=) p.(=) g.14029073G>A - ERCC4_000015 rs3136151 - - - Despoina Kalfakakou
./. - c.1284G>A r.(=) p.(=) g.14029073G>A - ERCC4_000015 rs3136151 - - - Despoina Kalfakakou
./. - c.1284G>A r.(=) p.(=) g.14029073G>A - ERCC4_000015 rs3136151 - - - Despoina Kalfakakou
./. - c.1284G>A r.(=) p.(=) g.14029073G>A - ERCC4_000015 rs3136151 - - - Despoina Kalfakakou
./. - c.1284G>A r.(=) p.(=) g.14029073G>A - ERCC4_000015 rs3136151 - - - Despoina Kalfakakou
./. - c.1284G>A r.(=) p.(=) g.14029073G>A - ERCC4_000015 rs3136151 - - - Despoina Kalfakakou
./. - c.1292T>G r.(?) p.(Phe431Cys) g.14029081T>G - ERCC4_000005 - - - - Despoina Kalfakakou
./. - c.1563C>G r.(?) p.(Ser521Arg) g.14029352C>G - ERCC4_000016 rs41552412 - - - Despoina Kalfakakou
./. - c.1563C>G r.(?) p.(Ser521Arg) g.14029352C>G - ERCC4_000016 rs41552412 - - - Despoina Kalfakakou
./. - c.1563C>G r.(?) p.(Ser521Arg) g.14029352C>G - ERCC4_000016 rs41552412 - - - Despoina Kalfakakou
./. - c.1563C>G r.(?) p.(Ser521Arg) g.14029352C>G - ERCC4_000016 rs41552412 - - - Despoina Kalfakakou
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