All transcript variants in gene RECQL4

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

722 entries on 8 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     

Variant remarks     

Genetic origin     

Segregation     

Also Known As     

Geographic Origin (for founder variants)     

Is Greek Founder     

Owner     
?/? - c.14G>T - p.? g.145743155C>A - RECQL4_000143 - - Germline - - - - Despoina Kalfakakou
?/? - c.25G>A - p.? g.145743144C>T - RECQL4_000102 rs1035057882 - Germline - - - - Despoina Kalfakakou
?/? - c.37G>T - p.? g.145743132C>A - RECQL4_000133 rs747356389 - Germline - - - - Despoina Kalfakakou
?/? - c.52T>C - p.? g.145743117A>G - RECQL4_000101 rs941281893 - Germline - - - - Despoina Kalfakakou
?/? - c.55C>G - p.? g.145743114G>C - RECQL4_000182 - - Germline - - - - Despoina Kalfakakou
?/? - c.118+43C>T - p.? g.145742943G>A - RECQL4_000201 - - Germline - - - - Despoina Kalfakakou
?/? - c.119-42C>T - p.? g.145742934G>A - RECQL4_000194 - - Germline - - - - Despoina Kalfakakou
?/? - c.119-17C>T - p.? g.145742909G>A - RECQL4_000189 - - Germline - - - - Despoina Kalfakakou
-/- - c.161A>G - p.? g.145742850T>C - RECQL4_000100 rs35198096 - Germline - - - - Despoina Kalfakakou
-/- - c.161A>G - p.? g.145742850T>C - RECQL4_000100 rs35198096 - Germline - - - - Despoina Kalfakakou
-/- - c.161A>G - p.? g.145742850T>C - RECQL4_000100 rs35198096 - Germline - - - - Despoina Kalfakakou
-/- - c.161A>G - p.? g.145742850T>C - RECQL4_000100 rs35198096 - Germline - - - - Despoina Kalfakakou
-/- - c.161A>G - p.? g.145742850T>C - RECQL4_000100 rs35198096 - Germline - - - - Despoina Kalfakakou
-/- - c.161A>G - p.? g.145742850T>C - RECQL4_000100 rs35198096 - Germline - - - - Despoina Kalfakakou
-/- - c.195C>G - p.? g.145742816G>C - RECQL4_000217 rs369163654 - Germline - - - - Despoina Kalfakakou
-/- - c.213+6del - p.? g.145742792del - RECQL4_000178 rs535285068 - Germline - - - - Despoina Kalfakakou
-/- - c.213+6del - p.? g.145742792del - RECQL4_000178 rs535285068 - Germline - - - - Despoina Kalfakakou
?/? - c.214-5T>G r.spl? p.? g.145742579A>C - RECQL4_000052 - - Germline - - - - Despoina Kalfakakou
?/? - c.251G>A - p.? g.145742537C>T - RECQL4_000188 rs745596664 - Germline - - - - Despoina Kalfakakou
?/? - c.255T>G - p.? g.145742533A>C - RECQL4_000210 rs1163167976 - Germline - - - - Despoina Kalfakakou
-/- - c.300C>T - p.? g.145742488G>A - RECQL4_000068 rs34496005 - Germline - - - - Despoina Kalfakakou
-/- - c.300C>T - p.? g.145742488G>A - RECQL4_000068 rs34496005 - Germline - - - - Despoina Kalfakakou
-/- - c.309G>A - p.? g.145742479C>T - RECQL4_000032 rs4251688 - Germline - - - - Despoina Kalfakakou
-/- - c.309G>A - p.? g.145742479C>T - RECQL4_000032 rs4251688 - Germline - - - - Despoina Kalfakakou
-/- - c.309G>A - p.? g.145742479C>T - RECQL4_000032 rs4251688 - Germline - - - - Despoina Kalfakakou
-/- - c.309G>A - p.? g.145742479C>T - RECQL4_000032 rs4251688 - Germline - - - - Despoina Kalfakakou
-/- - c.309G>A - p.? g.145742479C>T - RECQL4_000032 rs4251688 - Germline - - - - Despoina Kalfakakou
-/- - c.309G>A - p.? g.145742479C>T - RECQL4_000032 rs4251688 - Germline - - - - Despoina Kalfakakou
-/- - c.309G>A - p.? g.145742479C>T - RECQL4_000032 rs4251688 - Germline - - - - Despoina Kalfakakou
-/- - c.309G>A - p.? g.145742479C>T - RECQL4_000032 rs4251688 - Germline - - - - Despoina Kalfakakou
-/- - c.309G>A - p.? g.145742479C>T - RECQL4_000032 rs4251688 - Germline - - - - Despoina Kalfakakou
-/- - c.309G>A - p.? g.145742479C>T - RECQL4_000032 rs4251688 - Germline - - - - Despoina Kalfakakou
-/- - c.309G>A - p.? g.145742479C>T - RECQL4_000032 rs4251688 - Germline - - - - Despoina Kalfakakou
?/? - c.355-37C>T - p.? g.145742185G>A - RECQL4_000067 rs34116880 - Germline - - - - Despoina Kalfakakou
?/? - c.355-37C>T - p.? g.145742185G>A - RECQL4_000067 rs34116880 - Germline - - - - Despoina Kalfakakou
?/? - c.355-24G>A - p.? g.145742172C>T - RECQL4_000128 rs35058172 - Germline - - - - Despoina Kalfakakou
?/? - c.355-24G>A - p.? g.145742172C>T - RECQL4_000128 rs35058172 - Germline - - - - Despoina Kalfakakou
?/? - c.355-24G>A - p.? g.145742172C>T - RECQL4_000128 rs35058172 - Germline - - - - Despoina Kalfakakou
?/? - c.355-24G>A - p.? g.145742172C>T - RECQL4_000128 rs35058172 - Germline - - - - Despoina Kalfakakou
?/? - c.355-24G>C - p.? g.145742172C>G - RECQL4_000212 rs35058172 - Germline - - - - Despoina Kalfakakou
-/- - c.355-8C>T - p.? g.145742156G>A - RECQL4_000117 rs368782236 - Germline - - - - Despoina Kalfakakou
?/? - c.358G>A - p.? g.145742145C>T - RECQL4_000225 rs571635676 - Germline - - - - Despoina Kalfakakou
?/? - c.391G>C - p.? g.145742112C>G - RECQL4_000125 rs561427528 - Germline - - - - Despoina Kalfakakou
-/- - c.465C>G - p.? g.145742038G>C - RECQL4_000116 rs116137512 - Germline - - - - Despoina Kalfakakou
-/- - c.465C>G - p.? g.145742038G>C - RECQL4_000116 rs116137512 - Germline - - - - Despoina Kalfakakou
-/- - c.465C>G - p.? g.145742038G>C - RECQL4_000116 rs116137512 - Germline - - - - Despoina Kalfakakou
-?/-? - c.486C>A - p.? g.145742017G>T - RECQL4_000231 rs955555365 - Germline - - - - Despoina Kalfakakou
-?/-? - c.514C>T - p.? g.145741989G>A - RECQL4_000099 rs188859497 - Germline - - - - Despoina Kalfakakou
?/? - c.535C>T - p.? g.145741968G>A - RECQL4_000066 rs1308038651 - Germline - - - - Despoina Kalfakakou
?/? - c.535C>T - p.? g.145741968G>A - RECQL4_000066 rs1308038651 - Germline - - - - Despoina Kalfakakou
?/? - c.539G>A - p.? g.145741964C>T - RECQL4_000187 rs1060501378 - Germline - - - - Despoina Kalfakakou
?/? - c.539G>A - p.? g.145741964C>T - RECQL4_000187 rs1060501378 - Germline - - - - Despoina Kalfakakou
-/- - c.543G>A - p.? g.145741960C>T - RECQL4_000084 rs34159914 - Germline - - - - Despoina Kalfakakou
-/- - c.543G>A - p.? g.145741960C>T - RECQL4_000084 rs34159914 - Germline - - - - Despoina Kalfakakou
-/- - c.543G>A - p.? g.145741960C>T - RECQL4_000084 rs34159914 - Germline - - - - Despoina Kalfakakou
-/- - c.543G>A - p.? g.145741960C>T - RECQL4_000084 rs34159914 - Germline - - - - Despoina Kalfakakou
-/- - c.543G>A - p.? g.145741960C>T - RECQL4_000084 rs34159914 - Germline - - - - Despoina Kalfakakou
-/- - c.543G>A - p.? g.145741960C>T - RECQL4_000084 rs34159914 - Germline - - - - Despoina Kalfakakou
-/- - c.543G>A - p.? g.145741960C>T - RECQL4_000084 rs34159914 - Germline - - - - Despoina Kalfakakou
-/- - c.543G>A - p.? g.145741960C>T - RECQL4_000084 rs34159914 - Germline - - - - Despoina Kalfakakou
-/- - c.543G>A - p.? g.145741960C>T - RECQL4_000084 rs34159914 - Germline - - - - Despoina Kalfakakou
-/- - c.543G>A - p.? g.145741960C>T - RECQL4_000084 rs34159914 - Germline - - - - Despoina Kalfakakou
-/- - c.543G>A - p.? g.145741960C>T - RECQL4_000084 rs34159914 - Germline - - - - Despoina Kalfakakou
-/- - c.543G>A - p.? g.145741960C>T - RECQL4_000084 rs34159914 - Germline - - - - Despoina Kalfakakou
-/- - c.543G>A - p.? g.145741960C>T - RECQL4_000084 rs34159914 - Germline - - - - Despoina Kalfakakou
-/- - c.543G>A - p.? g.145741960C>T - RECQL4_000084 rs34159914 - Germline - - - - Despoina Kalfakakou
-/- - c.543G>A - p.? g.145741960C>T - RECQL4_000084 rs34159914 - Germline - - - - Despoina Kalfakakou
?/? - c.563C>T - p.? g.145741940G>A - RECQL4_000200 - - Germline - - - - Despoina Kalfakakou
-/- - c.615C>G - p.? g.145741888G>C - RECQL4_000051 rs35639991 - Germline - - - - Despoina Kalfakakou
?/? - c.666T>C - p.? g.145741837A>G - RECQL4_000089 rs752965461 - Germline - - - - Despoina Kalfakakou
-?/-? - c.705G>A - p.? g.145741798C>T - RECQL4_000124 rs1177971610 - Germline - - - - Despoina Kalfakakou
?/? - c.711A>G - p.? g.145741792T>C - RECQL4_000123 - - Germline - - - - Despoina Kalfakakou
-/- - c.716C>T - p.? g.145741787G>A - RECQL4_000031 rs146709578 - Germline - - - - Despoina Kalfakakou
-/- - c.716C>T - p.? g.145741787G>A - RECQL4_000031 rs146709578 - Germline - - - - Despoina Kalfakakou
-/- - c.716C>T - p.? g.145741787G>A - RECQL4_000031 rs146709578 - Germline - - - - Despoina Kalfakakou
-/- - c.716C>T - p.? g.145741787G>A - RECQL4_000031 rs146709578 - Germline - - - - Despoina Kalfakakou
?/? - c.816C>G - p.? g.145741687G>C - RECQL4_000030 rs761367573 - Germline - - - - Despoina Kalfakakou
?/? - c.816C>G - p.? g.145741687G>C - RECQL4_000030 rs761367573 - Germline - - - - Despoina Kalfakakou
-?/-? - c.817G>A - p.? g.145741686C>T - RECQL4_000155 rs34103564 - Germline - - - - Despoina Kalfakakou
-?/-? - c.817G>A - p.? g.145741686C>T - RECQL4_000155 rs34103564 - Germline - - - - Despoina Kalfakakou
?/? - c.862G>A - p.? g.145741641C>T - RECQL4_000029 rs199706417 - Germline - - - - Despoina Kalfakakou
?/? - c.862G>A - p.? g.145741641C>T - RECQL4_000029 rs199706417 - Germline - - - - Despoina Kalfakakou
?/? - c.970C>T - p.? g.145741533G>A - RECQL4_000090 rs781105713 - Germline - - - - Despoina Kalfakakou
-?/-? - c.1071C>T - p.? g.145741432G>A - RECQL4_000163 rs747857375 - Germline - - - - Despoina Kalfakakou
?/? - c.1072A>G - p.? g.145741431T>C - RECQL4_000230 rs371503929 - Germline - - - - Despoina Kalfakakou
?/? - c.1085A>G - p.? g.145741418T>C - RECQL4_000223 rs1016687510 - Germline - - - - Despoina Kalfakakou
?/? - c.1086C>G - p.? g.145741417G>C - RECQL4_000115 - - Germline - - - - Despoina Kalfakakou
-/- - c.1090G>A - p.? g.145741413C>T - RECQL4_000216 rs144637135 - Germline - - - - Despoina Kalfakakou
?/? - c.1131+42C>T - p.? g.145741330G>A - RECQL4_000118 - - Germline - - - - Despoina Kalfakakou
?/? - c.1131+44del - p.? g.145741328del - RECQL4_000199 - - Germline - - - - Despoina Kalfakakou
?/? - c.1132-27T>C - p.? g.145741301A>G - RECQL4_000028 - - Germline - - - - Despoina Kalfakakou
-?/-? - c.1170T>C - p.? g.145741236A>G - RECQL4_000050 rs768991485 - Germline - - - - Despoina Kalfakakou
-?/-? - c.1170T>C - p.? g.145741236A>G - RECQL4_000050 rs768991485 - Germline - - - - Despoina Kalfakakou
-?/-? - c.1170T>C - p.? g.145741236A>G - RECQL4_000050 rs768991485 - Germline - - - - Despoina Kalfakakou
-?/-? - c.1170T>C - p.? g.145741236A>G - RECQL4_000050 rs768991485 - Germline - - - - Despoina Kalfakakou
-?/-? - c.1170T>C - p.? g.145741236A>G - RECQL4_000050 rs768991485 - Germline - - - - Despoina Kalfakakou
-?/-? - c.1176T>G - p.? g.145741230A>C - RECQL4_000197 rs1054027953 - Germline - - - - Despoina Kalfakakou
?/? - c.1187C>T - p.? g.145741219G>A - RECQL4_000226 rs752564961 - Germline - - - - Despoina Kalfakakou
?/? - c.1207T>C - p.? g.145741199A>G - RECQL4_000027 rs754788578 - Germline - - - - Despoina Kalfakakou
-?/-? - c.1237G>A - p.? g.145741169C>T - RECQL4_000026 rs531310005 - Germline - - - - Despoina Kalfakakou
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