Unique variants in gene WRN

Information The variants shown are described using the NM_000553.4 transcript reference sequence.

135 entries on 2 pages. Showing entries 1 - 100.
Legend   « First ‹ Prev     1 2     Next › Last »

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     
./. 9 - c.25A>G r.(?) p.(Thr9Ala) g.30915988A>G - WRN_000048 - - - - - - - Despoina Kalfakakou
./. 1 - c.59A>G r.(?) p.(Asn20Ser) g.30916022A>G - WRN_000054 - - - - - - - Despoina Kalfakakou
./. 3 - c.75A>G r.(=) p.(=) g.30916038A>G - WRN_000072 - - - - - - - Despoina Kalfakakou
./. 13 - c.95A>G r.(?) p.(Lys32Arg) g.30916058A>G - WRN_000019 rs34477820 - - - - - - Despoina Kalfakakou
./. 1 - c.96+40A>T r.(=) p.(=) g.30916099A>T - WRN_000088 - - - - - - - Despoina Kalfakakou
./. 1 - c.115G>A r.(?) p.(Val39Ile) g.30916687G>A - WRN_000049 - - - - - - - Despoina Kalfakakou
./. 1 - c.171C>A r.(?) p.(Tyr57*) g.30916743C>A - WRN_000126 - - - - - - - Despoina Kalfakakou
./. 1 - c.209+5G>C r.spl? p.? g.30916786G>C - WRN_000047 - - - - - - - Despoina Kalfakakou
./. 1 - c.248T>C r.(?) p.(Met83Thr) g.30921843T>C - WRN_000071 - - - - - - - Despoina Kalfakakou
./. 14 - c.355+4G>C r.spl? p.? g.30921954G>C - WRN_000020 - - - - - - - Despoina Kalfakakou
./. 1 - c.356-7G>A r.(=) p.(=) g.30922424G>A - WRN_000136 - - - - - - - Despoina Kalfakakou
./. 1 - c.437A>G r.(?) p.(Lys146Arg) g.30922512A>G - WRN_000115 - - - - - - - Despoina Kalfakakou
./. 1 - c.452T>A r.(?) p.(Phe151Tyr) g.30922527T>A - WRN_000116 - - - - - - - Despoina Kalfakakou
./. 1 - c.504+49A>G r.(=) p.(=) g.30922628A>G - WRN_000073 - - - - - - - Despoina Kalfakakou
./. 15 - c.514A>C r.(?) p.(Thr172Pro) g.30924558A>C - WRN_000040 - - - - - - - Despoina Kalfakakou
./. 1 - c.567C>T r.(=) p.(=) g.30924611C>T - WRN_000021 - - - - - - - Despoina Kalfakakou
./. 1 - c.587G>A r.(?) p.(Arg196His) g.30924631G>A - WRN_000022 - - - - - - - Despoina Kalfakakou
./. 1 - c.654+4C>T r.spl? p.? g.30924702C>T - WRN_000117 - - - - - - - Despoina Kalfakakou
./. 4 - c.655-6T>C r.(=) p.(=) g.30925768T>C - WRN_000041 - - - - - - - Despoina Kalfakakou
./. 1 - c.698C>T r.(?) p.(Thr233Ile) g.30925817C>T - WRN_000120 - - - - - - - Despoina Kalfakakou
./. 9 - c.724+24A>C r.(=) p.(=) g.30925867A>C - WRN_000023 - - - - - - - Despoina Kalfakakou
./. 1 - c.725-25T>A r.(=) p.(=) g.30933664T>A - WRN_000065 - - - - - - - Despoina Kalfakakou
./. 1 - c.725-16del r.(=) p.(=) g.30933673del - WRN_000050 - - - - - - - Despoina Kalfakakou
./. 1 - c.835C>T r.(?) p.(Arg279Trp) g.30933799C>T - WRN_000101 - - - - - - - Despoina Kalfakakou
./. 3 - c.840-22_840-19del r.(=) p.(=) g.30938361_30938364del - WRN_000102 - - - - - - - Despoina Kalfakakou
./. 1 - c.840-15T>A r.(=) p.(=) g.30938368T>A - WRN_000064 - - - - - - - Despoina Kalfakakou
./. 1 - c.876A>G r.(=) p.(=) g.30938419A>G - WRN_000066 - - - - - - - Despoina Kalfakakou
./. 56 - c.970A>G r.(?) p.(Thr324Ala) g.30938513A>G - WRN_000018 rs1800390 - - - - - - Despoina Kalfakakou
./. 1 - c.994C>A r.(?) p.(Gln332Lys) g.30938537C>A - WRN_000085 - - - - - - - Despoina Kalfakakou
./. 2 - c.1124A>C r.(?) p.(Glu375Ala) g.30938667A>C - WRN_000024 - - - - - - - Despoina Kalfakakou
./. 1 - c.1149G>T r.(?) p.(Leu383Phe) g.30938692G>T - WRN_000138 rs4987238 - - - - - - Despoina Kalfakakou
./. 2 - c.1163del r.(?) p.(Arg389Glufs*4) g.30938706del - WRN_000060 - - - - - - - Despoina Kalfakakou
./. 1 - c.1269+16G>A r.(=) p.(=) g.30938828G>A - WRN_000131 - - - - - - - Despoina Kalfakakou
./. 1 - c.1270-11T>G r.(=) p.(=) g.30941204T>G - WRN_000111 - - - - - - - Despoina Kalfakakou
./. 1 - c.1272T>G r.(?) p.(His424Gln) g.30941217T>G - WRN_000086 - - - - - - - Despoina Kalfakakou
./. 1 - c.1280C>T r.(?) p.(Pro427Leu) g.30941225C>T - WRN_000112 - - - - - - - Despoina Kalfakakou
./. 2 - c.1307A>G r.(?) p.(Tyr436Cys) g.30941252A>G - WRN_000025 - - - - - - - Despoina Kalfakakou
./. 1 - c.1350+19A>C r.(=) p.(=) g.30941314A>C - WRN_000087 - - - - - - - Despoina Kalfakakou
./. 2 - c.1351-33T>C r.(=) p.(=) g.30942649T>C - WRN_000026 - - - - - - - Despoina Kalfakakou
./. 1 - c.1351-14A>G r.(=) p.(=) g.30942668A>G - WRN_000107 - - - - - - - Despoina Kalfakakou
./. 1 - c.1430A>G r.(?) p.(Lys477Arg) g.30942761A>G - WRN_000002 - - - - - - - Despoina Kalfakakou
./. 1 - c.1431+26A>G r.(=) p.(=) g.30942788A>G - WRN_000003 - - - - - - - Despoina Kalfakakou
./. 2 - c.1431+37T>C r.(=) p.(=) g.30942799T>C - WRN_000027 - - - - - - - Despoina Kalfakakou
./. 1 - c.1431+49A>G r.(=) p.(=) g.30942811A>G - WRN_000132 - - - - - - - Despoina Kalfakakou
./. 1 - c.1432-47C>T r.(=) p.(=) g.30945245C>T - WRN_000081 - - - - - - - Despoina Kalfakakou
./. 1 - c.1517_1522del r.(?) p.(Glu509_Glu510del) g.30945377_30945382del - WRN_000094 - - - - - - - Despoina Kalfakakou
./. 1 - c.1524A>G r.(=) p.(=) g.30945384A>G - WRN_000130 - - - - - - - Despoina Kalfakakou
./. 1 - c.1577-51A>G r.(=) p.(=) g.30946355A>G - WRN_000055 - - - - - - - Despoina Kalfakakou
./. 14 - c.1582T>A r.(?) p.(Leu528Met) g.30946411T>A - WRN_000004 - - - - - - - Despoina Kalfakakou
./. 1 - c.1604A>T r.(?) p.(Glu535Val) g.30946433A>T - WRN_000067 - - - - - - - Despoina Kalfakakou
./. 1 - c.1652+1G>A r.spl? p.? g.30946482G>A - WRN_000061 - - - - - - - Despoina Kalfakakou
./. 1 - c.1652+16T>G r.(=) p.(=) g.30946497T>G - WRN_000075 - - - - - - - Despoina Kalfakakou
./. 3 - c.1652+21T>A r.(=) p.(=) g.30946502T>A - WRN_000028 - - - - - - - Despoina Kalfakakou
./. 2 - c.1652+38T>C r.(=) p.(=) g.30946519T>C - WRN_000124 - - - - - - - Despoina Kalfakakou
./. 1 - c.1717A>G r.(?) p.(Thr573Ala) g.30948045A>G - WRN_000097 - - - - - - - Despoina Kalfakakou
./. 1 - c.1719T>G r.(=) p.(=) g.30948047T>G - WRN_000029 - - - - - - - Despoina Kalfakakou
./. 16 - c.1720+46_1720+47del r.(=) p.(=) g.30948094_30948095del - WRN_000005 - - - - - - - Despoina Kalfakakou
./. 2 - c.1721G>A r.(?) p.(Gly574Glu) g.30948350G>A - WRN_000069 - - - - - - - Despoina Kalfakakou
./. 1 - c.1744C>T r.(?) p.(Gln582*) g.30948373C>T - WRN_000095 - - - - - - - Despoina Kalfakakou
./. 1 - c.1829+32C>T r.(=) p.(=) g.30948490C>T - WRN_000113 - - - - - - - Despoina Kalfakakou
./. 1 - c.1829+33C>T r.(=) p.(=) g.30948491C>T - WRN_000056 - - - - - - - Despoina Kalfakakou
./. 1 - c.1829+46C>A r.(=) p.(=) g.30948504C>A - WRN_000114 rs78273467 - - - - - - Despoina Kalfakakou
./. 1 - c.1898+51A>G r.(=) p.(=) g.30949465A>G - WRN_000077 - - - - - - - Despoina Kalfakakou
./. 3 - c.1901G>A r.(?) p.(Gly634Asp) g.30954286G>A - WRN_000006 - - - - - - - Despoina Kalfakakou
./. 13 - c.1909C>T r.(?) p.(Arg637Trp) g.30954294C>T - WRN_000030 - - - - - - - Despoina Kalfakakou
./. 11 - c.1981+11A>G r.(=) p.(=) g.30954377A>G - WRN_000042 - - - - - - - Despoina Kalfakakou
./. 6 - c.1981+47T>C r.(=) p.(=) g.30954413T>C - WRN_000043 - - - - - - - Despoina Kalfakakou
./. 1 - c.1989G>A r.(=) p.(=) g.30958372G>A - WRN_000093 - - - - - - - Despoina Kalfakakou
./. 1 - c.2007G>A r.(=) p.(=) g.30958390G>A - WRN_000078 - - - - - - - Despoina Kalfakakou
./. 2 - c.2023G>C r.(?) p.(Glu675Gln) g.30958406G>C - WRN_000044 - - - - - - - Despoina Kalfakakou
./. 1 - c.2089-22A>G r.(=) p.(=) g.30969109A>G - WRN_000096 - - - - - - - Despoina Kalfakakou
./. 1 - c.2099T>C r.(?) p.(Val700Ala) g.30969141T>C - WRN_000089 - - - - - - - Despoina Kalfakakou
./. 4 - c.2108C>G r.(?) p.(Thr703Ser) g.30969150C>G - WRN_000062 - - - - - - - Despoina Kalfakakou
./. 1 - c.2111C>G r.(?) p.(Ala704Gly) g.30969153C>G - WRN_000007 - - - - - - - Despoina Kalfakakou
./. 1 - c.2114C>T r.(?) p.(Thr705Ile) g.30969156C>T - WRN_000008 - - - - - - - Despoina Kalfakakou
./. 1 - c.2119A>G r.(?) p.(Ser707Gly) g.30969161A>G - WRN_000135 - - - - - - - Despoina Kalfakakou
./. 3 - c.2128A>G r.(?) p.(Ile710Val) g.30969170A>G - WRN_000009 - - - - - - - Despoina Kalfakakou
./. 1 - c.2131C>T r.(?) p.(Arg711Trp) g.30969173C>T - WRN_000079 rs34560788 - - - - - - Despoina Kalfakakou
./. 7 - c.2146C>T r.(?) p.(Arg716Cys) g.30969188C>T - WRN_000045 - - - - - - - Despoina Kalfakakou
./. 1 - c.2205G>A r.(=) p.(=) g.30969247G>A - WRN_000134 - - - - - - - Despoina Kalfakakou
./. 1 - c.2215G>A r.(?) p.(Val739Ile) g.30969257G>A - WRN_000125 - - - - - - - Despoina Kalfakakou
./. 1 - c.2448+38A>C r.(=) p.(=) g.30974082A>C - WRN_000098 - - - - - - - Despoina Kalfakakou
./. 1 - c.2449-32G>T r.(=) p.(=) g.30977727G>T - WRN_000099 - - - - - - - Despoina Kalfakakou
./. 1 - c.2521G>A r.(?) p.(Ala841Thr) g.30977831G>A - WRN_000104 - - - - - - - Despoina Kalfakakou
./. 1 - c.2630+11T>A r.(=) p.(=) g.30977951T>A - WRN_000046 - - - - - - - Despoina Kalfakakou
./. 1 - c.2631-32T>G r.(=) p.(=) g.30982006T>G - WRN_000106 - - - - - - - Despoina Kalfakakou
./. 1 - c.2631-15G>A r.(=) p.(=) g.30982023G>A - WRN_000118 - - - - - - - Despoina Kalfakakou
./. 2 - c.2635_2637del r.(?) p.(Leu880del) g.30982042_30982044del - WRN_000031 - - - - - - - Despoina Kalfakakou
./. 1 - c.2732+6_2732+17del r.(=) p.(=) g.30982145_30982156del - WRN_000090 - - - - - - - Despoina Kalfakakou
./. 4 - c.2732+28G>A r.(=) p.(=) g.30982167G>A - WRN_000032 - - - - - - - Despoina Kalfakakou
./. 1 - c.2732+29T>C r.(=) p.(=) g.30982168T>C - WRN_000123 - - - - - - - Despoina Kalfakakou
./. 1 - c.2733-45T>C r.(=) p.(=) g.30982379T>C - WRN_000010 - - - - - - - Despoina Kalfakakou
./. 1 - c.2735T>G r.(?) p.(Ile912Ser) g.30982426T>G - WRN_000057 rs11574323 - - - - - - Despoina Kalfakakou
./. 1 - c.2825+45_2825+48del r.(=) p.(=) g.30982561_30982564del - WRN_000121 - - - - - - - Despoina Kalfakakou
./. 2 - c.2968-49A>G r.(=) p.(=) g.30998897A>G - WRN_000080 rs3087427 - - - - - - Despoina Kalfakakou
./. 1 - c.2983G>A r.(?) p.(Ala995Thr) g.30998961G>A - WRN_000137 - - - - - - - Despoina Kalfakakou
./. 1 - c.2986G>A r.(?) p.(Asp996Asn) g.30998964G>A - WRN_000058 - - - - - - - Despoina Kalfakakou
./. 4 - c.3091G>C r.(?) p.(Val1031Leu) g.30999069G>C - WRN_000012 - - - - - - - Despoina Kalfakakou
./. 8 - c.3101A>T r.(?) p.(Tyr1034Phe) g.30999079A>T - WRN_000051 - - - - - - - Despoina Kalfakakou
./. 1 - c.3123C>T r.(=) p.(=) g.30999101C>T - WRN_000059 - - - - - - - Despoina Kalfakakou
Legend   « First ‹ Prev     1 2     Next › Last »