Unique variants in gene ERCC4

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

61 entries on 1 page. Showing entries 1 - 61.
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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     
./. 2 - c.16C>T r.(?) p.(Pro6Ser) g.14014038C>T - ERCC4_000023 rs61760160 - - - Despoina Kalfakakou
./. 1 - c.105C>T r.(=) p.(=) g.14014127C>T - ERCC4_000046 - - - - Despoina Kalfakakou
./. 1 - c.122C>G r.(?) p.(Ala41Gly) g.14014144C>G - ERCC4_000007 - - - - Despoina Kalfakakou
./. 1 - c.217A>G r.(?) p.(Ile73Val) g.14015897A>G - ERCC4_000024 - - - - Despoina Kalfakakou
./. 21 - c.252C>T r.(=) p.(=) g.14015932C>T - ERCC4_000001 rs3136056 - - - Despoina Kalfakakou
./. 1 - c.290G>A r.(?) p.(Arg97His) g.14015970G>A - ERCC4_000053 - - - - Despoina Kalfakakou
./. 1 - c.389-32T>A r.(=) p.(=) g.14020386T>A - ERCC4_000008 - - - - Despoina Kalfakakou
./. 1 - c.473G>A r.(?) p.(Arg158His) g.14020502G>A - ERCC4_000034 - - - - Despoina Kalfakakou
./. 3 - c.532G>T r.(?) p.(Val178Leu) g.14020561G>T - ERCC4_000048 - - - - Despoina Kalfakakou
./. 1 - c.600A>G r.(=) p.(=) g.14021900A>G - ERCC4_000002 - - - - Despoina Kalfakakou
./. 2 - c.703G>A r.(?) p.(Ala235Thr) g.14022003G>A - ERCC4_000009 - - - - Despoina Kalfakakou
./. 3 - c.738G>A r.(=) p.(=) g.14022038G>A - ERCC4_000010 - - - - Despoina Kalfakakou
./. 1 - c.792+50A>G r.(=) p.(=) g.14022142A>G - ERCC4_000047 - - - - Despoina Kalfakakou
./. 1 - c.934T>G r.(?) p.(Ser312Ala) g.14024708T>G - ERCC4_000011 - - - - Despoina Kalfakakou
./. 1 - c.973+51G>A r.(=) p.(=) g.14024798G>A - ERCC4_000028 - - - - Despoina Kalfakakou
./. 18 - c.974-6T>C r.(=) p.(=) g.14026008T>C - ERCC4_000003 - - - - Despoina Kalfakakou
./. 1 - c.1013A>G r.(?) p.(Asn338Ser) g.14026053A>G - ERCC4_000041 - - - - Despoina Kalfakakou
./. 11 - c.1102+45A>G r.(=) p.(=) g.14026187A>G - ERCC4_000012 - - - - Despoina Kalfakakou
./. 9 - c.1135C>T r.(?) p.(Pro379Ser) g.14028081C>T - ERCC4_000013 rs1799802 - - - Despoina Kalfakakou
./. 1 - c.1179A>G r.(=) p.(=) g.14028125A>G - ERCC4_000030 - - - - Despoina Kalfakakou
./. 4 - c.1207G>C r.(?) p.(Gly403Arg) g.14028153G>C - ERCC4_000014 - - - - Despoina Kalfakakou
./. 1 - c.1213+26T>C r.(=) p.(=) g.14028185T>C - ERCC4_000032 - - - - Despoina Kalfakakou
./. 2 - c.1258C>T r.(=) p.(=) g.14029047C>T - ERCC4_000042 - - - - Despoina Kalfakakou
./. 1 - c.1283C>T r.(?) p.(Ala428Val) g.14029072C>T - ERCC4_000052 - - - - Despoina Kalfakakou
./. 6 - c.1284G>A r.(=) p.(=) g.14029073G>A - ERCC4_000015 rs3136151 - - - Despoina Kalfakakou
./. 1 - c.1292T>G r.(?) p.(Phe431Cys) g.14029081T>G - ERCC4_000005 - - - - Despoina Kalfakakou
./. 7 - c.1563C>G r.(?) p.(Ser521Arg) g.14029352C>G - ERCC4_000016 rs41552412 - - - Despoina Kalfakakou
./. 2 - c.1632C>T r.(=) p.(=) g.14029421C>T - ERCC4_000035 - - - - Despoina Kalfakakou
./. 1 - c.1648del r.(?) p.(Leu551Serfs*16) g.14029437del - ERCC4_000031 - - - - Despoina Kalfakakou
./. 1 - c.1657A>G r.(?) p.(Ile553Val) g.14029446A>G - ERCC4_000059 - - - - Despoina Kalfakakou
./. 1 - c.1664A>G r.(?) p.(His555Arg) g.14029453A>G - ERCC4_000036 - - - - Despoina Kalfakakou
./. 3 - c.1727G>C r.(?) p.(Arg576Thr) g.14029516G>C - ERCC4_000021 rs1800068 - - - Despoina Kalfakakou
./. 1 - c.1780T>G r.(?) p.(Tyr594Asp) g.14029569T>G - ERCC4_000050 - - - - Despoina Kalfakakou
./. 1 - c.1788G>C r.(=) p.(=) g.14029577G>C - ERCC4_000033 - - - - Despoina Kalfakakou
./. 1 - c.1799G>A r.(?) p.(Gly600Glu) g.14029588G>A - ERCC4_000057 - - - - Despoina Kalfakakou
./. 4 - c.1853G>A r.(?) p.(Arg618His) g.14031664G>A - ERCC4_000039 - - - - Despoina Kalfakakou
./. 1 - c.1860C>G r.(=) p.(=) g.14031671C>G - ERCC4_000043 - - - - Despoina Kalfakakou
./. 1 - c.1865C>T r.(?) p.(Ala622Val) g.14031676C>T - ERCC4_000055 - - - - Despoina Kalfakakou
./. 1 - c.1870C>T r.(?) p.(Arg624Trp) g.14031681C>T - ERCC4_000056 - - - - Despoina Kalfakakou
./. 1 - c.1905-25G>T r.(=) p.(=) g.14038555G>T - ERCC4_000038 - - - - Despoina Kalfakakou
./. 1 - c.1917C>A r.(?) p.(Ser639Arg) g.14038592C>A - ERCC4_000058 - - - - Despoina Kalfakakou
./. 3 - c.1983A>G r.(=) p.(=) g.14038658A>G - ERCC4_000029 - - - - Despoina Kalfakakou
./. 12 - c.2117T>C r.(?) p.(Ile706Thr) g.14041570T>C - ERCC4_000004 rs1800069 - - - Despoina Kalfakakou
./. 3 - c.2124C>T r.(=) p.(=) g.14041577C>T - ERCC4_000017 - - - - Despoina Kalfakakou
./. 1 - c.2178C>T r.(=) p.(=) g.14041631C>T - ERCC4_000027 - - - - Despoina Kalfakakou
./. 1 - c.2248C>T r.(?) p.(Arg750Cys) g.14041701C>T - ERCC4_000054 - - - - Despoina Kalfakakou
./. 1 - c.2249G>A r.(?) p.(Arg750His) g.14041702G>A - ERCC4_000040 - - - - Despoina Kalfakakou
./. 1 - c.2305C>G r.(?) p.(Leu769Val) g.14041758C>G - ERCC4_000044 - - - - Despoina Kalfakakou
./. 1 - c.2395C>T r.(?) p.(Arg799Trp) g.14041848C>T - ERCC4_000045 - - - - Despoina Kalfakakou
./. 1 - c.2417C>T r.(?) p.(Pro806Leu) g.14041870C>T - ERCC4_000006 - - - - Despoina Kalfakakou
./. 1 - c.2426C>T r.(?) p.(Thr809Met) g.14041879C>T - ERCC4_000018 - - - - Despoina Kalfakakou
./. 2 - c.2477C>T r.(?) p.(Ala826Val) g.14041930C>T - ERCC4_000037 - - - - Despoina Kalfakakou
./. 1 - c.2517C>T r.(=) p.(=) g.14041970C>T - ERCC4_000061 - - - - Despoina Kalfakakou
./. 1 - c.2590C>A r.(?) p.(Arg864Ser) g.14042043C>A - ERCC4_000026 - - - - Despoina Kalfakakou
./. 1 - c.2641C>G r.(?) p.(Gln881Glu) g.14042094C>G - ERCC4_000051 - - - - Despoina Kalfakakou
./. 8 - c.2647G>A r.(?) p.(Glu883Lys) g.14042100G>A - ERCC4_000019 - - - - Despoina Kalfakakou
./. 1 - c.2651T>C r.(?) p.(Leu884Pro) g.14042104T>C - ERCC4_000060 - - - - Despoina Kalfakakou
./. 1 - c.2677A>G r.(?) p.(Asn893Asp) g.14042130A>G - ERCC4_000049 - - - - Despoina Kalfakakou
./. 1 - c.2716G>T r.(?) p.(Ala906Ser) g.14042169G>T - ERCC4_000022 - - - - Despoina Kalfakakou
./. 3 - c.2724C>T r.(=) p.(=) g.14042177C>T - ERCC4_000025 rs3136225 - - - Despoina Kalfakakou
./. 7 - c.2725G>A r.(?) p.(Val909Ile) g.14042178G>A - ERCC4_000020 - - - - Despoina Kalfakakou
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