Unique variants in gene E2F1

Information The variants shown are described using the NM_005225.2 transcript reference sequence.

65 entries on 1 page. Showing entries 1 - 65.
Legend  

Reported     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
1 c.262-41C>T r.(=) p.(=) g.32268263G>A Copied from the Exome Variant Server E2F1_000065 2/13002 0/8596 2/4406
1 c.262-38A>G r.(=) p.(=) g.32268260T>C Copied from the Exome Variant Server E2F1_000064 1/13000 1/8594 0/4406
1 c.262-14C>T r.(=) p.(=) g.32268236G>A Copied from the Exome Variant Server E2F1_000063 1/13006 1/8600 0/4406
1 c.304G>A r.(?) p.(Ala102Thr) g.32268180C>T Copied from the Exome Variant Server E2F1_000062 54/13006 52/8600 2/4406
1 c.325C>T r.(?) p.(Arg109Trp) g.32268159G>A Copied from the Exome Variant Server E2F1_000061 1/13006 0/8600 1/4406
1 c.353-35G>C r.(=) p.(=) g.32267815C>G Copied from the Exome Variant Server E2F1_000060 15/12990 14/8590 1/4400
1 c.366G>A r.(=) p.(=) g.32267767C>T Copied from the Exome Variant Server E2F1_000059 1/13006 1/8600 0/4406
1 c.438G>A r.(=) p.(=) g.32267695C>T Copied from the Exome Variant Server E2F1_000058 2/13006 2/8600 0/4406
1 c.453C>T r.(=) p.(=) g.32267680G>A Copied from the Exome Variant Server E2F1_000057 1/13006 1/8600 0/4406
1 c.475G>A r.(?) p.(Val159Met) g.32267658C>T Copied from the Exome Variant Server E2F1_000056 1/13006 1/8600 0/4406
1 c.516C>T r.(=) p.(=) g.32267617G>A Copied from the Exome Variant Server E2F1_000055 1/13006 0/8600 1/4406
1 c.522T>G r.(=) p.(=) g.32267611A>C Copied from the Exome Variant Server E2F1_000054 2/13006 2/8600 0/4406
1 c.538A>G r.(?) p.(Ile180Val) g.32267595T>C Copied from the Exome Variant Server E2F1_000053 1/13006 0/8600 1/4406
1 c.572+25C>A r.(=) p.(=) g.32267536G>T Copied from the Exome Variant Server E2F1_000052 1/13006 0/8600 1/4406
1 c.573-21C>G r.(=) p.(=) g.32266180G>C Copied from the Exome Variant Server E2F1_000051 2/13006 2/8600 0/4406
1 c.573-5C>G r.spl? p.? g.32266164G>C Copied from the Exome Variant Server E2F1_000050 1/13006 0/8600 1/4406
1 c.598G>A r.(?) p.(Gly200Ser) g.32266134C>T Copied from the Exome Variant Server E2F1_000049 254/13004 224/8598 30/4406
1 c.604C>T r.(?) p.(Arg202Trp) g.32266128G>A Copied from the Exome Variant Server E2F1_000048 1/13006 0/8600 1/4406
1 c.605G>A r.(?) p.(Arg202Gln) g.32266127C>T Copied from the Exome Variant Server E2F1_000047 1/13006 1/8600 0/4406
1 c.635A>T r.(?) p.(Gln212Leu) g.32266097T>A Copied from the Exome Variant Server E2F1_000046 2/13006 1/8600 1/4406
1 c.672G>A r.(?) p.(Met224Ile) g.32266060C>T Copied from the Exome Variant Server E2F1_000045 2/13006 2/8600 0/4406
1 c.726-24C>T r.(=) p.(=) g.32265370G>A Copied from the Exome Variant Server E2F1_000044 1/13006 0/8600 1/4406
1 c.726-19G>A r.(=) p.(=) g.32265365C>T Copied from the Exome Variant Server E2F1_000043 4/13006 0/8600 4/4406
1 c.735C>T r.(=) p.(=) g.32265337G>A Copied from the Exome Variant Server E2F1_000042 3/13006 2/8600 1/4406
1 c.741G>A r.(=) p.(=) g.32265331C>T Copied from the Exome Variant Server E2F1_000041 63/13006 1/8600 62/4406
1 c.745C>G r.(?) p.(Gln249Glu) g.32265327G>C Copied from the Exome Variant Server E2F1_000040 1/13006 1/8600 0/4406
1 c.761T>C r.(?) p.(Ile254Thr) g.32265311A>G Copied from the Exome Variant Server E2F1_000039 1/13006 1/8600 0/4406
1 c.777G>A r.(=) p.(=) g.32265295C>T Copied from the Exome Variant Server E2F1_000038 3/13006 3/8600 0/4406
1 c.826G>A r.(?) p.(Val276Met) g.32265246C>T Copied from the Exome Variant Server E2F1_000037 78/13006 0/8600 78/4406
1 c.840+6A>C r.(=) p.(=) g.32265226T>G Copied from the Exome Variant Server E2F1_000036 1/13006 0/8600 1/4406
1 c.840+18C>T r.(=) p.(=) g.32265214G>A Copied from the Exome Variant Server E2F1_000035 2/13006 1/8600 1/4406
1 c.840+24C>G r.(=) p.(=) g.32265208G>C Copied from the Exome Variant Server E2F1_000034 1/13006 1/8600 0/4406
1 c.840+25_840+29del r.(=) p.(=) g.32265203_32265207del Copied from the Exome Variant Server E2F1_000033 2/12518 1/8254 1/4264
1 c.840+41_840+45del r.(=) p.(=) g.32265187_32265191del Copied from the Exome Variant Server E2F1_000032 29/12518 16/8254 13/4264
1 c.840+41_841-46del r.spl? p.? g.32265182_32265191del Copied from the Exome Variant Server E2F1_000031 20/12518 13/8254 7/4264
1 c.841-44G>A r.(=) p.(=) g.32265180C>T Copied from the Exome Variant Server E2F1_000030 1/13006 1/8600 0/4406
1 c.841-7C>A r.(=) p.(=) g.32265143G>T Copied from the Exome Variant Server E2F1_000029 1/13006 1/8600 0/4406
1 c.932C>A r.(?) p.(Thr311Asn) g.32265045G>T Copied from the Exome Variant Server E2F1_000028 6/13006 0/8600 6/4406
1 c.968G>A r.(?) p.(Arg323Lys) g.32265009C>T Copied from the Exome Variant Server E2F1_000027 10/13006 0/8600 10/4406
1 c.1003C>G r.(?) p.(Pro335Ala) g.32264974G>C Copied from the Exome Variant Server E2F1_000026 4/13006 0/8600 4/4406
1 c.1017C>T r.(=) p.(=) g.32264960G>A Copied from the Exome Variant Server E2F1_000025 68/13006 0/8600 68/4406
1 c.1029C>T r.(=) p.(=) g.32264948G>A Copied from the Exome Variant Server E2F1_000024 1/13006 1/8600 0/4406
1 c.1036C>T r.(?) p.(Pro346Ser) g.32264941G>A Copied from the Exome Variant Server E2F1_000023 10/13006 10/8600 0/4406
1 c.1066+4G>A r.spl? p.? g.32264907C>T Copied from the Exome Variant Server E2F1_000022 4/13006 0/8600 4/4406
1 c.1066+10_1066+11insATG r.(=) p.(=) g.32264900_32264901insCAT Copied from the Exome Variant Server E2F1_000021 6/12516 6/8252 0/4264
1 c.1066+48G>A r.(=) p.(=) g.32264863C>T Copied from the Exome Variant Server E2F1_000020 72/12988 0/8586 72/4402
1 c.1066+49G>A r.(=) p.(=) g.32264862C>T Copied from the Exome Variant Server E2F1_000019 2/12988 0/8586 2/4402
1 c.1067-49T>G r.(=) p.(=) g.32264834A>C Copied from the Exome Variant Server E2F1_000018 2/12888 2/8512 0/4376
1 c.1067-41G>C r.(=) p.(=) g.32264826C>G Copied from the Exome Variant Server E2F1_000017 1/12840 0/8490 1/4350
1 c.1071G>A r.(=) p.(=) g.32264781C>T Copied from the Exome Variant Server E2F1_000016 1/12814 0/8498 1/4316
1 c.1105G>A r.(?) p.(Val369Met) g.32264747C>T Copied from the Exome Variant Server E2F1_000015 1/12832 1/8502 0/4330
1 c.1111G>A r.(?) p.(Glu371Lys) g.32264741C>T Copied from the Exome Variant Server E2F1_000014 1/12832 0/8508 1/4324
1 c.1132G>A r.(?) p.(Val378Met) g.32264720C>T Copied from the Exome Variant Server E2F1_000013 2/12880 0/8540 2/4340
1 c.1137G>A r.(=) p.(=) g.32264715C>T Copied from the Exome Variant Server E2F1_000012 21/12902 0/8544 21/4358
1 c.1176C>T r.(=) p.(=) g.32264676G>A Copied from the Exome Variant Server E2F1_000011 10/12982 10/8586 0/4396
1 c.1177G>A r.(?) p.(Gly393Ser) g.32264675C>T Copied from the Exome Variant Server E2F1_000010 290/12984 265/8588 25/4396
1 c.1216C>T r.(?) p.(His406Tyr) g.32264636G>A Copied from the Exome Variant Server E2F1_000009 1/13002 0/8598 1/4404
1 c.1221G>A r.(=) p.(=) g.32264631C>T Copied from the Exome Variant Server E2F1_000008 1/13002 0/8598 1/4404
1 c.1245C>T r.(=) p.(=) g.32264607G>A Copied from the Exome Variant Server E2F1_000007 5/13004 2/8598 3/4406
1 c.1272C>T r.(=) p.(=) g.32264580G>A Copied from the Exome Variant Server E2F1_000006 1/13006 0/8600 1/4406
1 c.1298C>T r.(?) p.(Thr433Ile) g.32264554G>A Copied from the Exome Variant Server E2F1_000005 1/13000 1/8600 0/4400
1 c.1301C>T r.(?) p.(Pro434Leu) g.32264551G>A Copied from the Exome Variant Server E2F1_000004 1/13004 1/8600 0/4404
1 c.*5G>T r.(=) p.(=) g.32264533C>A Copied from the Exome Variant Server E2F1_000003 427/12990 384/8584 43/4406
1 c.*9G>A r.(=) p.(=) g.32264529C>T Copied from the Exome Variant Server E2F1_000002 3/12974 0/8572 3/4402
1 c.*13G>A r.(=) p.(=) g.32264525C>T Copied from the Exome Variant Server E2F1_000001 2/12972 0/8570 2/4402
Legend