Unique variants in gene ERCC5

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

97 entries on 1 page. Showing entries 1 - 97.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

dbSNP ID     

Variant remarks     

Genetic origin     

Segregation     

Also Known As     

Geographic Origin (for founder variants)     

Is Greek Founder     

Owner     
?/? 1 - c.-11G>T r.(=) p.(=) g.103498606G>T - ERCC5_000097 - - Germline - - - - Despoina Kalfakakou
+?/+? 1 - c.46C>T r.(?) p.(Gln16*) g.103498662C>T - ERCC5_000034 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.55C>G r.(?) p.(Pro19Ala) g.103498671C>G - ERCC5_000080 - - Germline - - - - Despoina Kalfakakou
?/? 33 - c.56C>T r.(?) p.(Pro19Leu) g.103498672C>T - ERCC5_000012 rs34291397 - Germline - - - - Despoina Kalfakakou
?/? 2 - c.88+17G>A r.(=) p.(=) g.103498721G>A - ERCC5_000090 - - Germline - - - - Despoina Kalfakakou
?/? 8 - c.89-48G>A r.(=) p.(=) g.103504420G>A - ERCC5_000011 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.89-27A>G r.(=) p.(=) g.103504441A>G - ERCC5_000078 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.89-17A>G r.(=) p.(=) g.103504451A>G - ERCC5_000059 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.89-10A>T r.(=) p.(=) g.103504458A>T - ERCC5_000005 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.240T>G r.(=) p.(=) g.103504619T>G - ERCC5_000057 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.264+10G>A r.(=) p.(=) g.103504653G>A - ERCC5_000042 - - Germline - - - - Despoina Kalfakakou
?/? 10 - c.264+34T>G r.(=) p.(=) g.103504677T>G - ERCC5_000033 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.264+45T>C r.(=) p.(=) g.103504688T>C - ERCC5_000063 - - Germline - - - - Despoina Kalfakakou
?/? 2 - c.270G>A r.(=) p.(=) g.103506112G>A - ERCC5_000013 rs760695391 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.274A>T r.(?) p.(Arg92Trp) g.103506116A>T - ERCC5_000014 rs764029659 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.303C>G r.(?) p.(Asp101Glu) g.103506145C>G - ERCC5_000015 rs150741329 - Germline - - - - Despoina Kalfakakou
?/? 6 - c.330G>A r.(=) p.(=) g.103506172G>A - ERCC5_000016 rs772275078 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.369C>T r.(=) p.(=) g.103506211C>T - ERCC5_000081 - - Germline - - - - Despoina Kalfakakou
?/? 3 - c.381-23T>G r.(=) p.(=) g.103506615T>G - ERCC5_000037 - - Germline - - - - Despoina Kalfakakou
?/? 4 - c.468-23G>C r.(=) p.(=) g.103508379G>C - ERCC5_000050 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.516A>G r.(=) p.(=) g.103508450A>G - ERCC5_000072 rs751121250 - Germline - - - - Despoina Kalfakakou
?/? 2 - c.525A>G r.(=) p.(=) g.103508459A>G - ERCC5_000082 - - Germline - - - - Despoina Kalfakakou
?/? 5 - c.542A>G r.(?) p.(His181Arg) g.103510638A>G - ERCC5_000006 rs4150295 - Germline - - - - Despoina Kalfakakou
?/? 2 - c.584G>A r.(?) p.(Ser195Asn) g.103510680G>A - ERCC5_000095 - - Germline - - - - Despoina Kalfakakou
-/- 1 - c.641G>A r.(?) p.(Arg214His) g.103510737G>A - ERCC5_000060 rs146833751 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.672+6A>G r.(=) p.(=) g.103510774A>G - ERCC5_000017 - - Germline - - - - Despoina Kalfakakou
?/? 2 - c.832T>A r.(?) p.(Ser278Thr) g.103514016T>A - ERCC5_000038 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.869T>A r.(?) p.(Ile290Asn) g.103514053T>A - ERCC5_000055 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.880+9C>T r.(=) p.(=) g.103514073C>T - ERCC5_000070 - - Germline - - - - Despoina Kalfakakou
?/? 5 - c.881-30A>G r.(=) p.(=) g.103514350A>G - ERCC5_000018 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.881-26T>G r.(=) p.(=) g.103514354T>G - ERCC5_000054 - - Germline - - - - Despoina Kalfakakou
+?/+? 1 - c.886C>T r.(?) p.(Gln296*) g.103514385C>T - ERCC5_000056 - - Germline - - - - Despoina Kalfakakou
?/? 7 - c.926C>T r.(?) p.(Pro309Leu) g.103514425C>T - ERCC5_000019 - - Germline - - - - Despoina Kalfakakou
-/- 2 - c.945C>T r.(=) p.(=) g.103514444C>T - ERCC5_000020 rs34061299 - Germline - - - - Despoina Kalfakakou
?/? 2 - c.1105G>T r.(?) p.(Ala369Ser) g.103514604G>T - ERCC5_000048 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.1109G>A r.(?) p.(Arg370His) g.103514608G>A - ERCC5_000051 rs370885325 - Germline - - - - Despoina Kalfakakou
-/- 1 - c.1110T>A r.(=) p.(=) g.103514609T>A - ERCC5_000061 rs150791877 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.1123C>G r.(?) p.(Pro375Ala) g.103514622C>G - ERCC5_000096 - - Germline - - - - Despoina Kalfakakou
?/? 15 - c.1131T>A r.(=) p.(=) g.103514630T>A - ERCC5_000007 rs764744058 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.1195G>A r.(?) p.(Glu399Lys) g.103514694G>A - ERCC5_000021 rs4150315 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.1237G>A r.(?) p.(Gly413Arg) g.103514736G>A - ERCC5_000087 - - Germline - - - - Despoina Kalfakakou
-?/-? 1 - c.1259G>A r.(?) p.(Arg420His) g.103514758G>A - ERCC5_000008 rs143667470 - Germline - - - - Despoina Kalfakakou
-?/-? 4 - c.1287T>C r.(=) p.(=) g.103514786T>C - ERCC5_000022 rs146853061 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.1371C>A r.(?) p.(His457Gln) g.103514870C>A - ERCC5_000009 rs149867583 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.1460C>T r.(?) p.(Pro487Leu) g.103514959C>T - ERCC5_000023 rs560626350 - Germline - - - - Despoina Kalfakakou
?/? 2 - c.1498C>G r.(?) p.(Arg500Gly) g.103514997C>G - ERCC5_000024 - - Germline - - - - Despoina Kalfakakou
?/? 4 - c.1499G>A r.(?) p.(Arg500Gln) g.103514998G>A - ERCC5_000025 rs142081128 - Germline - - - - Despoina Kalfakakou
-?/-? 1 - c.1536C>T r.(=) p.(=) g.103515035C>T - ERCC5_000068 rs145853933 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.1618G>A r.(?) p.(Ala540Thr) g.103515117G>A - ERCC5_000010 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.1666T>G r.(?) p.(Phe556Val) g.103515165T>G - ERCC5_000067 rs372128804 - Germline - - - - Despoina Kalfakakou
-?/-? 4 - c.1768G>A r.(?) p.(Val590Ile) g.103515267G>A - ERCC5_000035 rs4150318 - Germline - - - - Despoina Kalfakakou
?/? 4 - c.1789G>C r.(?) p.(Val597Leu) g.103515288G>C - ERCC5_000001 rs4150319 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.1861C>G r.(?) p.(Gln621Glu) g.103515360C>G - ERCC5_000043 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.1934C>T r.(?) p.(Ser645Leu) g.103515433C>T - ERCC5_000091 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.1959T>A r.(?) p.(Ser653Arg) g.103518021T>A - ERCC5_000079 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.1983T>C r.(=) p.(=) g.103518045T>C - ERCC5_000088 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.2049G>A r.(=) p.(=) g.103518111G>A - ERCC5_000026 - - Germline - - - - Despoina Kalfakakou
?/? 4 - c.2131G>T r.(?) p.(Asp711Tyr) g.103518193G>T - ERCC5_000045 rs760008264 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.2199+14A>G r.(=) p.(=) g.103518275A>G - ERCC5_000089 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.2199+23C>T r.(=) p.(=) g.103518284C>T - ERCC5_000094 - - Germline - - - - Despoina Kalfakakou
./. 1 - c.2200-40A>G r.(=) p.(=) g.103518572A>G - ERCC5_000098 - - - - - - - Despoina Kalfakakou
?/? 1 - c.2200-36T>C r.(=) p.(=) g.103518576T>C - ERCC5_000028 - - Germline - - - - Despoina Kalfakakou
?/? 3 - c.2200-17_2200-16insA r.(=) p.(=) g.103518595_103518596insA - ERCC5_000046 - - Germline - - - - Despoina Kalfakakou
?/? 25 - c.2320-33C>T r.(=) p.(=) g.103518949C>T - ERCC5_000029 - - Germline - - - - Despoina Kalfakakou
?/? 2 - c.2320-27C>T r.(=) p.(=) g.103518955C>T - ERCC5_000052 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.2329C>T r.(?) p.(Arg777Cys) g.103518991C>T - ERCC5_000092 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.2337C>A r.(?) p.(Phe779Leu) g.103518999C>A - ERCC5_000071 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.2364G>A r.(?) p.(Met788Ile) g.103519026G>A - ERCC5_000077 rs376917307 - Germline - - - - Despoina Kalfakakou
?/? 5 - c.2534-39A>G r.(=) p.(=) g.103520424A>G - ERCC5_000002 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.2534-38A>C r.(=) p.(=) g.103520425A>C - ERCC5_000049 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.2542C>T r.(?) p.(Arg848Trp) g.103520471C>T - ERCC5_000069 rs587778290 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.2567A>G r.(?) p.(Tyr856Cys) g.103520496A>G - ERCC5_000075 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.2614G>A r.(?) p.(Val872Ile) g.103520543G>A - ERCC5_000073 - - Germline - - - - Despoina Kalfakakou
+?/+? 2 - c.2678+1G>A r.spl? p.? g.103520608G>A - ERCC5_000083 rs886044319 - Germline - - - - Despoina Kalfakakou
-/- 5 - c.2778C>G r.(=) p.(=) g.103524647C>G - ERCC5_000053 rs9518857 - Germline - - - - Despoina Kalfakakou
-?/-? 4 - c.2818G>A r.(?) p.(Val940Met) g.103524687G>A - ERCC5_000003 rs146344855 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.2857C>G r.(?) p.(Pro953Ala) g.103524726C>G - ERCC5_000036 - - Germline - - - - Despoina Kalfakakou
?/? 2 - c.2911A>G r.(?) p.(Thr971Ala) g.103525640A>G - ERCC5_000064 rs147955525 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.2953G>A r.(?) p.(Asp985Asn) g.103525682G>A - ERCC5_000066 rs748797643 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.2964+32G>T r.(=) p.(=) g.103525725G>T - ERCC5_000058 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.2964+42T>C r.(=) p.(=) g.103525735T>C - ERCC5_000076 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.3025C>T r.(?) p.(Arg1009Cys) g.103527717C>T - ERCC5_000084 - - Germline - - - - Despoina Kalfakakou
?/? 2 - c.3065T>C r.(?) p.(Met1022Thr) g.103527757T>C - ERCC5_000047 rs1429571096 - Germline - - - - Despoina Kalfakakou
?/? 3 - c.3106G>A r.(?) p.(Ala1036Thr) g.103527798G>A - ERCC5_000062 rs144208043 - Germline - - - - Despoina Kalfakakou
-/- 4 - c.3177C>T r.(=) p.(=) g.103527869C>T - ERCC5_000030 rs148856875 - Germline - - - - Despoina Kalfakakou
-?/-? 2 - c.3239G>A r.(?) p.(Gly1080Glu) g.103527931G>A - ERCC5_000085 rs4150388 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.3262T>C r.(=) p.(=) g.103527954T>C - ERCC5_000039 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.3268G>A r.(?) p.(Glu1090Lys) g.103527960G>A - ERCC5_000074 rs762312048 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.3335A>G r.(?) p.(Asn1112Ser) g.103528027A>G - ERCC5_000004 - - Germline - - - - Despoina Kalfakakou
?/? 2 - c.3336T>C r.(=) p.(=) g.103528028T>C - ERCC5_000031 rs113688496 - Germline - - - - Despoina Kalfakakou
-/- 2 - c.3356C>T r.(?) p.(Ala1119Val) g.103528048C>T - ERCC5_000032 rs2227871 - Germline - - - - Despoina Kalfakakou
?/? 2 - c.3396A>G r.(=) p.(=) g.103528088A>G - ERCC5_000044 rs1225882613 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.3412G>A r.(?) p.(Val1138Met) g.103528104G>A - ERCC5_000093 rs140930348 - Germline - - - - Despoina Kalfakakou
?/? 2 - c.3421G>A r.(?) p.(Gly1141Arg) g.103528113G>A - ERCC5_000041 - - Germline - - - - Despoina Kalfakakou
-?/-? 1 - c.3486C>T r.(=) p.(=) g.103528178C>T - ERCC5_000065 rs761650522 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.3546A>G r.(=) p.(=) g.103528238A>G - ERCC5_000040 rs966703850 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.*22_*25del r.(=) p.(=) g.103528275_103528278del - ERCC5_000086 rs4150389 - Germline - - - - Despoina Kalfakakou
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