All transcript variants in gene RECQL

Information The variants shown are described using the NM_002907.3 transcript reference sequence.

134 entries on 2 pages. Showing entries 1 - 100.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-35G>T r.(=) p.(=) g.21652539C>A Copied from the Exome Variant Server RECQL_000134 24/12972 1/8566 23/4406
?/? c.15A>G r.(=) p.(=) g.21652490T>C Copied from the Exome Variant Server RECQL_000133 1/12998 1/8592 0/4406
?/? c.16+57T>C r.(=) p.(=) g.21652432A>G Copied from the Exome Variant Server RECQL_000132 13/4550 0/3166 13/1384
?/? c.17-17C>T r.(=) p.(=) g.21644667G>A Copied from the Exome Variant Server RECQL_000131 4768/13004 3939/8598 829/4406
?/? c.17-16G>C r.(=) p.(=) g.21644666C>G Copied from the Exome Variant Server RECQL_000130 623/13004 380/8598 243/4406
?/? c.31C>T r.(=) p.(=) g.21644636G>A Copied from the Exome Variant Server RECQL_000129 1/13006 1/8600 0/4406
?/? c.34G>C r.(?) p.(Asp12His) g.21644633C>G Copied from the Exome Variant Server RECQL_000128 1/13006 1/8600 0/4406
?/? c.78A>G r.(=) p.(=) g.21644589T>C Copied from the Exome Variant Server RECQL_000127 53/13006 0/8600 53/4406
?/? c.84T>G r.(=) p.(=) g.21644583A>C Copied from the Exome Variant Server RECQL_000126 2/13006 0/8600 2/4406
?/? c.86C>T r.(?) p.(Thr29Met) g.21644581G>A Copied from the Exome Variant Server RECQL_000125 3/13006 3/8600 0/4406
?/? c.96A>G r.(=) p.(=) g.21644571T>C Copied from the Exome Variant Server RECQL_000124 1/13006 0/8600 1/4406
?/? c.118A>G r.(?) p.(Lys40Glu) g.21644549T>C Copied from the Exome Variant Server RECQL_000123 1/13006 0/8600 1/4406
?/? c.120_121insA r.(?) p.(Val41Serfs*14) g.21644546_21644547insT Copied from the Exome Variant Server RECQL_000122 20/12518 10/8254 10/4264
?/? c.149T>C r.(?) p.(Leu50Ser) g.21644518A>G Copied from the Exome Variant Server RECQL_000121 1/13006 1/8600 0/4406
?/? c.156T>G r.(?) p.(Asp52Glu) g.21644511A>C Copied from the Exome Variant Server RECQL_000120 1/13006 1/8600 0/4406
?/? c.194C>T r.(?) p.(Pro65Leu) g.21644473G>A Copied from the Exome Variant Server RECQL_000119 1/13002 1/8600 0/4402
?/? c.214+50del r.(=) p.(=) g.21644403del Copied from the Exome Variant Server RECQL_000118 7/11908 4/7962 3/3946
?/? c.215-51C>T r.(=) p.(=) g.21643363G>A Copied from the Exome Variant Server RECQL_000117 1/12970 1/8582 0/4388
?/? c.215-33A>G r.(=) p.(=) g.21643345T>C Copied from the Exome Variant Server RECQL_000116 2/12998 0/8596 2/4402
?/? c.222A>G r.(=) p.(=) g.21643305T>C Copied from the Exome Variant Server RECQL_000115 1/13006 0/8600 1/4406
?/? c.229G>A r.(?) p.(Gly77Ser) g.21643298C>T Copied from the Exome Variant Server RECQL_000114 1/13006 1/8600 0/4406
?/? c.267G>A r.(=) p.(=) g.21643260C>T Copied from the Exome Variant Server RECQL_000113 1/13006 1/8600 0/4406
?/? c.303C>T r.(=) p.(=) g.21643224G>A Copied from the Exome Variant Server RECQL_000112 1/13006 1/8600 0/4406
?/? c.304G>A r.(?) p.(Val102Ile) g.21643223C>T Copied from the Exome Variant Server RECQL_000111 621/13006 4/8600 617/4406
?/? c.309A>G r.(=) p.(=) g.21643218T>C Copied from the Exome Variant Server RECQL_000110 2/13006 2/8600 0/4406
?/? c.345A>G r.(=) p.(=) g.21643182T>C Copied from the Exome Variant Server RECQL_000109 2/13006 0/8600 2/4406
?/? c.367T>C r.(?) p.(Tyr123His) g.21643160A>G Copied from the Exome Variant Server RECQL_000108 1/13006 1/8600 0/4406
?/? c.376C>T r.(?) p.(Pro126Ser) g.21643151G>A Copied from the Exome Variant Server RECQL_000107 1/13006 0/8600 1/4406
?/? c.386G>A r.(?) p.(Cys129Tyr) g.21643141C>T Copied from the Exome Variant Server RECQL_000106 1/13006 1/8600 0/4406
?/? c.394+6T>C r.(=) p.(=) g.21643127A>G Copied from the Exome Variant Server RECQL_000105 4/13006 0/8600 4/4406
?/? c.394+15A>C r.(=) p.(=) g.21643118T>G Copied from the Exome Variant Server RECQL_000104 1/13004 1/8598 0/4406
?/? c.394+29del r.(=) p.(=) g.21643104del Copied from the Exome Variant Server RECQL_000103 10/12516 8/8252 2/4264
?/? c.395-36A>T r.(=) p.(=) g.21639555T>A Copied from the Exome Variant Server RECQL_000102 1/12992 0/8588 1/4404
?/? c.401C>T r.(?) p.(Thr134Ile) g.21639513G>A Copied from the Exome Variant Server RECQL_000101 6/12998 6/8592 0/4406
?/? c.406G>A r.(?) p.(Val136Ile) g.21639508C>T Copied from the Exome Variant Server RECQL_000100 11/12998 0/8592 11/4406
?/? c.417A>G r.(=) p.(=) g.21639497T>C Copied from the Exome Variant Server RECQL_000099 3/12998 0/8594 3/4404
?/? c.453A>G r.(=) p.(=) g.21639461T>C Copied from the Exome Variant Server RECQL_000098 1/13000 0/8594 1/4406
?/? c.501+15C>A r.(=) p.(=) g.21639398G>T Copied from the Exome Variant Server RECQL_000097 2/12998 0/8594 2/4404
?/? c.502-49C>T r.(=) p.(=) g.21636557G>A Copied from the Exome Variant Server RECQL_000096 2/12984 2/8580 0/4404
?/? c.502-18A>G r.(=) p.(=) g.21636526T>C Copied from the Exome Variant Server RECQL_000095 2/13000 0/8596 2/4404
?/? c.502-14T>G r.(=) p.(=) g.21636522A>C Copied from the Exome Variant Server RECQL_000094 5/13000 4/8596 1/4404
?/? c.518T>A r.(?) p.(Val173Asp) g.21636492A>T Copied from the Exome Variant Server RECQL_000093 3/13006 3/8600 0/4406
?/? c.533T>A r.(?) p.(Val178Glu) g.21636477A>T Copied from the Exome Variant Server RECQL_000092 3/13006 0/8600 3/4406
?/? c.605C>T r.(?) p.(Ser202Leu) g.21636405G>A Copied from the Exome Variant Server RECQL_000091 1/13006 1/8600 0/4406
?/? c.642T>G r.(=) p.(=) g.21636368A>C Copied from the Exome Variant Server RECQL_000090 1/13006 0/8600 1/4406
?/? c.643C>T r.(?) p.(Arg215*) g.21636367G>A Copied from the Exome Variant Server RECQL_000089 1/13006 1/8600 0/4406
?/? c.672T>C r.(=) p.(=) g.21636338A>G Copied from the Exome Variant Server RECQL_000088 1/13006 1/8600 0/4406
?/? c.697C>A r.(?) p.(Pro233Thr) g.21636313G>T Copied from the Exome Variant Server RECQL_000087 1/13006 1/8600 0/4406
?/? c.701-51_701-46del r.(=) p.(=) g.21630949_21630954del Copied from the Exome Variant Server RECQL_000086 5/12512 0/8254 5/4258
?/? c.701-38A>G r.(=) p.(=) g.21630941T>C Copied from the Exome Variant Server RECQL_000085 1/13004 0/8600 1/4404
?/? c.701-29A>G r.(=) p.(=) g.21630932T>C Copied from the Exome Variant Server RECQL_000084 2/13006 2/8600 0/4406
?/? c.718A>G r.(?) p.(Ile240Val) g.21630886T>C Copied from the Exome Variant Server RECQL_000083 1/13006 0/8600 1/4406
?/? c.741C>T r.(=) p.(=) g.21630863G>A Copied from the Exome Variant Server RECQL_000082 2/13006 2/8600 0/4406
?/? c.809G>A r.(?) p.(Cys270Tyr) g.21630795C>T Copied from the Exome Variant Server RECQL_000081 8/13006 0/8600 8/4406
?/? c.867+4T>C r.spl? p.? g.21630733A>G Copied from the Exome Variant Server RECQL_000080 1/13002 1/8598 0/4404
?/? c.867+44C>T r.(=) p.(=) g.21630693G>A Copied from the Exome Variant Server RECQL_000079 1/12992 1/8596 0/4396
?/? c.868-61A>G r.(=) p.(=) g.21629987T>C Copied from the Exome Variant Server RECQL_000078 4443/4562 3174/3178 1269/1384
?/? c.871C>T r.(?) p.(Arg291Trp) g.21629923G>A Copied from the Exome Variant Server RECQL_000077 1/13002 0/8596 1/4406
?/? c.889A>G r.(?) p.(Thr297Ala) g.21629905T>C Copied from the Exome Variant Server RECQL_000076 1/13000 1/8596 0/4404
?/? c.898T>A r.(?) p.(Phe300Ile) g.21629896A>T Copied from the Exome Variant Server RECQL_000075 4/13002 4/8598 0/4404
?/? c.921C>T r.(=) p.(=) g.21629873G>A Copied from the Exome Variant Server RECQL_000074 1/13002 1/8598 0/4404
?/? c.949+14_949+17del r.(=) p.(=) g.21629828_21629831del Copied from the Exome Variant Server RECQL_000073 25/12516 15/8254 10/4262
?/? c.950-41T>C r.(=) p.(=) g.21628799A>G Copied from the Exome Variant Server RECQL_000072 1/12996 0/8594 1/4402
?/? c.950-33A>G r.(=) p.(=) g.21628791T>C Copied from the Exome Variant Server RECQL_000071 6294/13000 4131/8594 2163/4406
?/? c.950-8T>C r.(=) p.(=) g.21628766A>G Copied from the Exome Variant Server RECQL_000070 1/12996 1/8594 0/4402
?/? c.962G>A r.(?) p.(Cys321Tyr) g.21628746C>T Copied from the Exome Variant Server RECQL_000069 3/13000 3/8596 0/4404
?/? c.962_965del r.(?) p.(Cys321Phefs*46) g.21628743_21628746del Copied from the Exome Variant Server RECQL_000068 1/12512 0/8250 1/4262
?/? c.1005G>C r.(?) p.(Gln335His) g.21628703C>G Copied from the Exome Variant Server RECQL_000067 1/13004 0/8600 1/4404
?/? c.1020T>C r.(=) p.(=) g.21628688A>G Copied from the Exome Variant Server RECQL_000066 6/13004 0/8600 6/4404
?/? c.1040A>G r.(?) p.(Asn347Ser) g.21628668T>C Copied from the Exome Variant Server RECQL_000065 2/13004 2/8598 0/4406
?/? c.1058A>G r.(?) p.(Lys353Arg) g.21628650T>C Copied from the Exome Variant Server RECQL_000064 1/13006 1/8600 0/4406
?/? c.1069C>T r.(?) p.(His357Tyr) g.21628639G>A Copied from the Exome Variant Server RECQL_000063 1/13006 1/8600 0/4406
?/? c.1071T>C r.(=) p.(=) g.21628637A>G Copied from the Exome Variant Server RECQL_000062 3/13006 0/8600 3/4406
?/? c.1088A>G r.(?) p.(Asn363Ser) g.21628620T>C Copied from the Exome Variant Server RECQL_000061 3/13006 1/8600 2/4406
?/? c.1098+1G>A r.spl? p.? g.21628609C>T Copied from the Exome Variant Server RECQL_000060 1/13006 1/8600 0/4406
?/? c.1099-17A>G r.(=) p.(=) g.21628536T>C Copied from the Exome Variant Server RECQL_000059 14/13004 0/8598 14/4406
?/? c.1129G>A r.(?) p.(Gly377Arg) g.21628489C>T Copied from the Exome Variant Server RECQL_000058 1/13006 1/8600 0/4406
?/? c.1138A>T r.(?) p.(Lys380*) g.21628480T>A Copied from the Exome Variant Server RECQL_000057 2/13006 2/8600 0/4406
?/? c.1171A>G r.(?) p.(Met391Val) g.21628447T>C Copied from the Exome Variant Server RECQL_000055 1/13004 0/8598 1/4406
?/? c.1215A>C r.(=) p.(=) g.21628403T>G Copied from the Exome Variant Server RECQL_000053 11/13004 0/8598 11/4406
?/? c.1216+3A>G r.spl? p.? g.21628399T>C Copied from the Exome Variant Server RECQL_000056 1/13004 0/8598 1/4406
?/? c.1217-24A>G r.(=) p.(=) g.21627937T>C Copied from the Exome Variant Server RECQL_000054 2/13004 0/8598 2/4406
?/? c.1217-18A>G r.(=) p.(=) g.21627931T>C Copied from the Exome Variant Server RECQL_000052 10/13004 0/8598 10/4406
?/? c.1217-3C>T r.spl? p.? g.21627916G>A Copied from the Exome Variant Server RECQL_000051 1/13004 1/8598 0/4406
?/? c.1241G>A r.(?) p.(Cys414Tyr) g.21627889C>T Copied from the Exome Variant Server RECQL_000050 2/13004 2/8598 0/4406
?/? c.1268T>C r.(?) p.(Ile423Thr) g.21627862A>G Copied from the Exome Variant Server RECQL_000049 1/13006 0/8600 1/4406
?/? c.1270T>G r.(?) p.(Phe424Val) g.21627860A>C Copied from the Exome Variant Server RECQL_000048 2/13006 0/8600 2/4406
?/? c.1285A>G r.(?) p.(Met429Val) g.21627845T>C Copied from the Exome Variant Server RECQL_000047 1/13006 0/8600 1/4406
?/? c.1323T>G r.(?) p.(Tyr441*) g.21627807A>C Copied from the Exome Variant Server RECQL_000046 1/13004 1/8600 0/4404
?/? c.1332A>T r.(=) p.(=) g.21627798T>A Copied from the Exome Variant Server RECQL_000045 1/13002 0/8598 1/4404
?/? c.1355+1G>A r.spl? p.? g.21627774C>T Copied from the Exome Variant Server RECQL_000044 1/13006 1/8600 0/4406
?/? c.1355+30T>C r.(=) p.(=) g.21627745A>G Copied from the Exome Variant Server RECQL_000043 4392/13002 3776/8596 616/4406
?/? c.1355+51G>A r.(=) p.(=) g.21627724C>T Copied from the Exome Variant Server RECQL_000042 1/13002 1/8596 0/4406
?/? c.1356-7T>C r.(=) p.(=) g.21626583A>G Copied from the Exome Variant Server RECQL_000041 1/13004 1/8598 0/4406
?/? c.1360C>T r.(?) p.(Arg454Cys) g.21626572G>A Copied from the Exome Variant Server RECQL_000040 1/13004 1/8598 0/4406
?/? c.1363_1365del r.(?) p.(Arg455del) g.21626567_21626569del Copied from the Exome Variant Server RECQL_000039 1/12516 1/8252 0/4264
?/? c.1425C>T r.(=) p.(=) g.21626507G>A Copied from the Exome Variant Server RECQL_000038 1/13002 0/8598 1/4404
?/? c.1447+12_1447+14del r.(=) p.(=) g.21626471_21626473del Copied from the Exome Variant Server RECQL_000037 39/12516 22/8252 17/4264
?/? c.1447+43A>G r.(=) p.(=) g.21626442T>C Copied from the Exome Variant Server RECQL_000036 1/13004 0/8598 1/4406
?/? c.1460A>C r.(?) p.(Lys487Thr) g.21624569T>G Copied from the Exome Variant Server RECQL_000035 218/13004 7/8598 211/4406
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