Unique variants in gene RECQL4

Information The variants shown are described using the NM_004260.3 transcript reference sequence.

223 entries on 3 pages. Showing entries 1 - 100.
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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     
./. 1 - c.14G>T - p.? g.145743155C>A - RECQL4_000143 - - - - Despoina Kalfakakou
./. 1 - c.25G>A - p.? g.145743144C>T - RECQL4_000102 - - - - Despoina Kalfakakou
./. 1 - c.37G>T - p.? g.145743132C>A - RECQL4_000133 - - - - Despoina Kalfakakou
./. 1 - c.52T>C - p.? g.145743117A>G - RECQL4_000101 - - - - Despoina Kalfakakou
./. 1 - c.55C>G - p.? g.145743114G>C - RECQL4_000182 - - - - Despoina Kalfakakou
./. 1 - c.118+43C>T - p.? g.145742943G>A - RECQL4_000201 - - - - Despoina Kalfakakou
./. 1 - c.119-42C>T - p.? g.145742934G>A - RECQL4_000194 - - - - Despoina Kalfakakou
./. 1 - c.119-17C>T - p.? g.145742909G>A - RECQL4_000189 - - - - Despoina Kalfakakou
./. 6 - c.161A>G - p.? g.145742850T>C - RECQL4_000100 rs35198096 - - - Despoina Kalfakakou
./. 1 - c.195C>G - p.? g.145742816G>C - RECQL4_000217 - - - - Despoina Kalfakakou
./. 2 - c.213+6del - p.? g.145742792del - RECQL4_000178 - - - - Despoina Kalfakakou
./. 1 - c.214-5T>G r.spl? p.? g.145742579A>C - RECQL4_000052 - - - - Despoina Kalfakakou
./. 1 - c.251G>A - p.? g.145742537C>T - RECQL4_000188 - - - - Despoina Kalfakakou
./. 1 - c.255T>G - p.? g.145742533A>C - RECQL4_000210 - - - - Despoina Kalfakakou
./. 2 - c.300C>T - p.? g.145742488G>A - RECQL4_000068 rs34496005 - - - Despoina Kalfakakou
./. 10 - c.309G>A - p.? g.145742479C>T - RECQL4_000032 rs4251688 - - - Despoina Kalfakakou
./. 2 - c.355-37C>T - p.? g.145742185G>A - RECQL4_000067 rs34116880 - - - Despoina Kalfakakou
./. 3 - c.355-24G>A - p.? g.145742172C>T - RECQL4_000128 rs35058172 - - - Despoina Kalfakakou
./. 1 - c.355-24G>C - p.? g.145742172C>G - RECQL4_000212 rs35058172 - - - Despoina Kalfakakou
./. 1 - c.355-8C>T - p.? g.145742156G>A - RECQL4_000117 - - - - Despoina Kalfakakou
./. 1 - c.391G>C - p.? g.145742112C>G - RECQL4_000125 - - - - Despoina Kalfakakou
./. 3 - c.465C>G - p.? g.145742038G>C - RECQL4_000116 - - - - Despoina Kalfakakou
./. 1 - c.514C>T - p.? g.145741989G>A - RECQL4_000099 - - - - Despoina Kalfakakou
./. 2 - c.535C>T - p.? g.145741968G>A - RECQL4_000066 - - - - Despoina Kalfakakou
./. 2 - c.539G>A - p.? g.145741964C>T - RECQL4_000187 - - - - Despoina Kalfakakou
./. 14 - c.543G>A - p.? g.145741960C>T - RECQL4_000084 rs34159914 - - - Despoina Kalfakakou
./. 1 - c.563C>T - p.? g.145741940G>A - RECQL4_000200 - - - - Despoina Kalfakakou
./. 1 - c.615C>G - p.? g.145741888G>C - RECQL4_000051 rs35639991 - - - Despoina Kalfakakou
./. 1 - c.666T>C - p.? g.145741837A>G - RECQL4_000089 - - - - Despoina Kalfakakou
./. 1 - c.705G>A - p.? g.145741798C>T - RECQL4_000124 - - - - Despoina Kalfakakou
./. 1 - c.711A>G - p.? g.145741792T>C - RECQL4_000123 - - - - Despoina Kalfakakou
./. 3 - c.716C>T - p.? g.145741787G>A - RECQL4_000031 - - - - Despoina Kalfakakou
./. 2 - c.816C>G - p.? g.145741687G>C - RECQL4_000030 - - - - Despoina Kalfakakou
./. 2 - c.817G>A - p.? g.145741686C>T - RECQL4_000155 rs34103564 - - - Despoina Kalfakakou
./. 2 - c.862G>A - p.? g.145741641C>T - RECQL4_000029 - - - - Despoina Kalfakakou
./. 1 - c.970C>T - p.? g.145741533G>A - RECQL4_000090 - - - - Despoina Kalfakakou
./. 1 - c.1071C>T - p.? g.145741432G>A - RECQL4_000163 - - - - Despoina Kalfakakou
./. 1 - c.1085A>G - p.? g.145741418T>C - RECQL4_000223 - - - - Despoina Kalfakakou
./. 1 - c.1086C>G - p.? g.145741417G>C - RECQL4_000115 - - - - Despoina Kalfakakou
./. 1 - c.1090G>A - p.? g.145741413C>T - RECQL4_000216 - - - - Despoina Kalfakakou
./. 1 - c.1131+42C>T - p.? g.145741330G>A - RECQL4_000118 - - - - Despoina Kalfakakou
./. 1 - c.1131+44del - p.? g.145741328del - RECQL4_000199 - - - - Despoina Kalfakakou
./. 1 - c.1132-27T>C - p.? g.145741301A>G - RECQL4_000028 - - - - Despoina Kalfakakou
./. 5 - c.1170T>C - p.? g.145741236A>G - RECQL4_000050 - - - - Despoina Kalfakakou
./. 1 - c.1176T>G - p.? g.145741230A>C - RECQL4_000197 - - - - Despoina Kalfakakou
./. 1 - c.1207T>C - p.? g.145741199A>G - RECQL4_000027 - - - - Despoina Kalfakakou
./. 7 - c.1237G>A - p.? g.145741169C>T - RECQL4_000026 - - - - Despoina Kalfakakou
./. 7 - c.1238C>G - p.? g.145741168G>C - RECQL4_000025 - - - - Despoina Kalfakakou
./. 1 - c.1253G>C - p.? g.145741153C>G - RECQL4_000024 - - - - Despoina Kalfakakou
./. 1 - c.1256C>T - p.? g.145741150G>A - RECQL4_000174 - - - - Despoina Kalfakakou
./. 2 - c.1258+25G>T - p.? g.145741123C>A - RECQL4_000098 - - - - Despoina Kalfakakou
./. 1 - c.1259-40G>A - p.? g.145740881C>T - RECQL4_000088 - - - - Despoina Kalfakakou
./. 1 - c.1259-19C>T - p.? g.145740860G>A - RECQL4_000132 - - - - Despoina Kalfakakou
./. 1 - c.1259-4C>T r.spl? p.? g.145740845G>A - RECQL4_000154 - - - - Despoina Kalfakakou
./. 1 - c.1271A>G - p.? g.145740829T>C - RECQL4_000181 - - - - Despoina Kalfakakou
./. 1 - c.1343_1347del - p.? g.145740753_145740757del - RECQL4_000153 - - - - Despoina Kalfakakou
./. 4 - c.1347C>T - p.? g.145740753G>A - RECQL4_000142 - - - - Despoina Kalfakakou
./. 6 - c.1390+3G>A r.spl? p.? g.145740707C>T - RECQL4_000023 - - - - Despoina Kalfakakou
./. 2 - c.1390+8G>A - p.? g.145740702C>T - RECQL4_000049 - - - - Despoina Kalfakakou
./. 1 - c.1390+16C>T - p.? g.145740694G>A - RECQL4_000065 - - - - Despoina Kalfakakou
./. 2 - c.1390+37G>A - p.? g.145740673C>T - RECQL4_000064 - - - - Despoina Kalfakakou
./. 2 - c.1391-41G>A - p.? g.145740667C>T - RECQL4_000114 - - - - Despoina Kalfakakou
./. 19 - c.1395G>A - p.? g.145740622C>T - RECQL4_000022 rs34948955 - - - Despoina Kalfakakou
./. 2 - c.1398G>A - p.? g.145740619C>T - RECQL4_000127 - - - - Despoina Kalfakakou
./. 2 - c.1404G>A - p.? g.145740613C>T - RECQL4_000072 - - - - Despoina Kalfakakou
./. 1 - c.1410C>G - p.? g.145740607G>C - RECQL4_000173 - - - - Despoina Kalfakakou
./. 2 - c.1472G>A - p.? g.145740545C>T - RECQL4_000192 - - - - Despoina Kalfakakou
./. 1 - c.1484-9C>T - p.? g.145740465G>A - RECQL4_000222 - - - - Despoina Kalfakakou
./. 1 - c.1484-3C>T r.spl? p.? g.145740459G>A - RECQL4_000113 - - - - Despoina Kalfakakou
./. 4 - c.1548G>A - p.? g.145740392C>T - RECQL4_000087 - - - - Despoina Kalfakakou
./. 1 - c.1580C>T - p.? g.145740360G>A - RECQL4_000198 - - - - Despoina Kalfakakou
./. 1 - c.1593_1594insT - p.? g.145740346_145740347insA - RECQL4_000191 - - - - Despoina Kalfakakou
./. 2 - c.1610T>C - p.? g.145740330A>G - RECQL4_000180 - - - - Despoina Kalfakakou
./. 9 - c.1620+23A>G - p.? g.145740297T>C - RECQL4_000097 - - - - Despoina Kalfakakou
./. 1 - c.1620+45G>C - p.? g.145740275C>G - RECQL4_000211 - - - - Despoina Kalfakakou
./. 2 - c.1621-30G>A - p.? g.145739939C>T - RECQL4_000016 - - - - Despoina Kalfakakou
./. 3 - c.1621-21C>T - p.? g.145739930G>A - RECQL4_000121 - - - - Despoina Kalfakakou
./. 1 - c.1621-9C>T - p.? g.145739918G>A - RECQL4_000195 - - - - Despoina Kalfakakou
./. 22 - c.1621-8A>G - p.? g.145739917T>C - RECQL4_000015 - - - - Despoina Kalfakakou
./. 3 - c.1625C>T - p.? g.145739905G>A - RECQL4_000193 - - - - Despoina Kalfakakou
./. 1 - c.1626T>C - p.? g.145739904A>G - RECQL4_000162 - - - - Despoina Kalfakakou
./. 1 - c.1684C>T - p.? g.145739846G>A - RECQL4_000048 rs61759892 - - - Despoina Kalfakakou
./. 2 - c.1697T>C - p.? g.145739833A>G - RECQL4_000126 - - - - Despoina Kalfakakou
./. 6 - c.1704+9C>T - p.? g.145739817G>A - RECQL4_000108 rs35876881 - - - Despoina Kalfakakou
./. 1 - c.1705-6C>T - p.? g.145739752G>A - RECQL4_000086 - - - - Despoina Kalfakakou
./. 1 - c.1741C>T - p.? g.145739710G>A - RECQL4_000176 - - - - Despoina Kalfakakou
./. 1 - c.1761G>A - p.? g.145739690C>T - RECQL4_000131 - - - - Despoina Kalfakakou
./. 1 - c.1842C>T - p.? g.145739609G>A - RECQL4_000047 - - - - Despoina Kalfakakou
./. 1 - c.1852C>T - p.? g.145739599G>A - RECQL4_000204 - - - - Despoina Kalfakakou
./. 1 - c.1853G>A - p.? g.145739598C>T - RECQL4_000177 - - - - Despoina Kalfakakou
./. 3 - c.1857C>T - p.? g.145739594G>A - RECQL4_000046 - - - - Despoina Kalfakakou
./. 4 - c.1868G>A - p.? g.145739583C>T - RECQL4_000045 - - - - Despoina Kalfakakou
./. 1 - c.1869C>T - p.? g.145739582G>A - RECQL4_000185 - - - - Despoina Kalfakakou
./. 1 - c.1878G>A - p.? g.145739573C>T - RECQL4_000184 - - - - Despoina Kalfakakou
./. 1 - c.1878+20G>A - p.? g.145739553C>T - RECQL4_000221 - - - - Despoina Kalfakakou
./. 2 - c.1879-14C>T - p.? g.145739505G>A - RECQL4_000014 - - - - Despoina Kalfakakou
./. 1 - c.1879-1G>A r.spl? p.? g.145739492C>T - RECQL4_000042 - - - - Despoina Kalfakakou
./. 2 - c.1885C>T - p.? g.145739485G>A - RECQL4_000107 - - - - Despoina Kalfakakou
./. 2 - c.1921A>G - p.? g.145739449T>C - RECQL4_000013 - - - - Despoina Kalfakakou
./. 7 - c.1940G>T - p.? g.145739430C>A - RECQL4_000094 - - - - Despoina Kalfakakou
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