All transcript variants in gene KIF23

Information The variants shown are described using the NM_004856.5 transcript reference sequence.

161 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.-51C>T r.(=) p.(=) g.69706754C>T Copied from the Exome Variant Server KIF23_000001 1/12866 0/8526 1/4340
?/? c.-47A>C r.(=) p.(=) g.69706758A>C Copied from the Exome Variant Server KIF23_000002 101/12884 0/8536 101/4348
?/? c.-40C>T r.(=) p.(=) g.69706765C>T Copied from the Exome Variant Server KIF23_000003 1/12874 1/8530 0/4344
?/? c.-29C>T r.(=) p.(=) g.69706776C>T Copied from the Exome Variant Server KIF23_000004 37/12854 34/8526 3/4328
?/? c.-2C>T r.(=) p.(=) g.69706803C>T Copied from the Exome Variant Server KIF23_000005 7/12926 7/8560 0/4366
?/? c.12-48G>A r.(=) p.(=) g.69708285G>A Copied from the Exome Variant Server KIF23_000006 1/12920 1/8560 0/4360
?/? c.12-37del r.(=) p.(=) g.69708296del Copied from the Exome Variant Server KIF23_000007 104/12478 69/8236 35/4242
?/? c.29G>A r.(?) p.(Arg10Gln) g.69708350G>A Copied from the Exome Variant Server KIF23_000008 1/12994 0/8596 1/4398
?/? c.57A>G r.(=) p.(=) g.69708378A>G Copied from the Exome Variant Server KIF23_000009 1/12994 0/8596 1/4398
?/? c.76G>A r.(?) p.(Val26Ile) g.69708397G>A Copied from the Exome Variant Server KIF23_000010 2/12994 2/8596 0/4398
?/? c.81+6G>A r.(=) p.(=) g.69708408G>A Copied from the Exome Variant Server KIF23_000011 45/12994 0/8596 45/4398
?/? c.81+45T>C r.(=) p.(=) g.69708447T>C Copied from the Exome Variant Server KIF23_000012 3/12992 1/8596 2/4396
?/? c.82-37C>T r.(=) p.(=) g.69709685C>T Copied from the Exome Variant Server KIF23_000013 65/12994 3/8596 62/4398
?/? c.82-36G>A r.(=) p.(=) g.69709686G>A Copied from the Exome Variant Server KIF23_000014 11438/12994 8417/8596 3021/4398
?/? c.82-13C>T r.(=) p.(=) g.69709709C>T Copied from the Exome Variant Server KIF23_000015 2/12994 2/8596 0/4398
?/? c.84A>G r.(=) p.(=) g.69709724A>G Copied from the Exome Variant Server KIF23_000016 2/12994 0/8596 2/4398
?/? c.91A>C r.(=) p.(=) g.69709731A>C Copied from the Exome Variant Server KIF23_000017 1/12994 0/8596 1/4398
?/? c.100C>A r.(?) p.(Pro34Thr) g.69709740C>A Copied from the Exome Variant Server KIF23_000018 10/12994 10/8596 0/4398
?/? c.108C>A r.(=) p.(=) g.69709748C>A Copied from the Exome Variant Server KIF23_000019 1034/12994 163/8596 871/4398
?/? c.143A>G r.(?) p.(Asn48Ser) g.69709783A>G Copied from the Exome Variant Server KIF23_000020 2/12994 2/8596 0/4398
?/? c.149C>A r.(?) p.(Thr50Lys) g.69709789C>A Copied from the Exome Variant Server KIF23_000021 3/12994 0/8596 3/4398
?/? c.152C>T r.(?) p.(Thr51Ile) g.69709792C>T Copied from the Exome Variant Server KIF23_000022 680/12994 603/8596 77/4398
?/? c.211-20_211-19insT r.(=) p.(=) g.69713966_69713967insT Copied from the Exome Variant Server KIF23_000023 1/12518 0/8254 1/4264
?/? c.213T>C r.(=) p.(=) g.69713988T>C Copied from the Exome Variant Server KIF23_000024 10/12994 10/8596 0/4398
?/? c.218A>G r.(?) p.(Tyr73Cys) g.69713993A>G Copied from the Exome Variant Server KIF23_000025 2/12994 0/8596 2/4398
?/? c.221C>T r.(?) p.(Ser74Leu) g.69713996C>T Copied from the Exome Variant Server KIF23_000026 1/12994 1/8596 0/4398
?/? c.230A>G r.(?) p.(Gln77Arg) g.69714005A>G Copied from the Exome Variant Server KIF23_000027 81/12994 1/8596 80/4398
?/? c.274G>C r.(?) p.(Val92Leu) g.69714049G>C Copied from the Exome Variant Server KIF23_000028 26/12994 0/8596 26/4398
?/? c.293A>G r.(?) p.(Asn98Ser) g.69714068A>G Copied from the Exome Variant Server KIF23_000029 46/12994 36/8596 10/4398
?/? c.297C>T r.(=) p.(=) g.69714072C>T Copied from the Exome Variant Server KIF23_000030 1/12994 0/8596 1/4398
?/? c.313A>T r.(?) p.(Asn105Tyr) g.69714088A>T Copied from the Exome Variant Server KIF23_000031 2/12994 1/8596 1/4398
?/? c.316+18G>C r.(=) p.(=) g.69714109G>C Copied from the Exome Variant Server KIF23_000032 1/12994 0/8596 1/4398
?/? c.317-4G>A r.spl? p.? g.69714327G>A Copied from the Exome Variant Server KIF23_000033 3/12994 3/8596 0/4398
?/? c.333T>C r.(=) p.(=) g.69714347T>C Copied from the Exome Variant Server KIF23_000034 168/12994 6/8596 162/4398
?/? c.401G>A r.(?) p.(Arg134His) g.69714415G>A Copied from the Exome Variant Server KIF23_000035 1/12994 1/8596 0/4398
?/? c.453+27C>G r.(=) p.(=) g.69714494C>G Copied from the Exome Variant Server KIF23_000036 3/12994 0/8596 3/4398
?/? c.454-36C>T r.(=) p.(=) g.69714629C>T Copied from the Exome Variant Server KIF23_000037 1/12976 1/8590 0/4386
?/? c.454-26del r.(=) p.(=) g.69714639del Copied from the Exome Variant Server KIF23_000039 3071/12512 2049/8252 1022/4260
?/? c.454-26dup r.(=) p.(=) g.69714639dup Copied from the Exome Variant Server KIF23_000038 920/12512 568/8252 352/4260
?/? c.454-26_454-25insTT r.(=) p.(=) g.69714639_69714640insTT Copied from the Exome Variant Server KIF23_000040 36/12512 17/8252 19/4260
?/? c.497A>C r.(?) p.(Glu166Ala) g.69714708A>C Copied from the Exome Variant Server KIF23_000041 3/12994 3/8596 0/4398
?/? c.551_553del r.(?) p.(Ser187del) g.69714762_69714764del Copied from the Exome Variant Server KIF23_000042 1/12510 1/8248 0/4262
?/? c.560G>A r.(?) p.(Ser187Asn) g.69714771G>A Copied from the Exome Variant Server KIF23_000043 1/12994 1/8596 0/4398
?/? c.563+6del r.(=) p.(=) g.69714780del Copied from the Exome Variant Server KIF23_000044 1/12510 1/8248 0/4262
?/? c.563+12T>C r.(=) p.(=) g.69714786T>C Copied from the Exome Variant Server KIF23_000045 1/12994 0/8596 1/4398
?/? c.563+52C>A r.(=) p.(=) g.69714826C>A Copied from the Exome Variant Server KIF23_000046 12/7260 11/4614 1/2646
?/? c.564-28G>A r.(=) p.(=) g.69715470G>A Copied from the Exome Variant Server KIF23_000047 1/12994 0/8596 1/4398
?/? c.570A>C r.(?) p.(Gln190His) g.69715504A>C Copied from the Exome Variant Server KIF23_000048 1/12994 1/8596 0/4398
?/? c.636A>G r.(=) p.(=) g.69715570A>G Copied from the Exome Variant Server KIF23_000049 2/12994 2/8596 0/4398
?/? c.641G>T r.(?) p.(Ser214Ile) g.69715575G>T Copied from the Exome Variant Server KIF23_000050 1/12994 1/8596 0/4398
?/? c.660C>T r.(=) p.(=) g.69715594C>T Copied from the Exome Variant Server KIF23_000051 63/12992 0/8596 63/4396
?/? c.690A>G r.(?) p.(Ile230Met) g.69715624A>G Copied from the Exome Variant Server KIF23_000052 3/12980 3/8592 0/4388
?/? c.699A>G r.(=) p.(=) g.69715633A>G Copied from the Exome Variant Server KIF23_000053 30/12984 30/8594 0/4390
?/? c.734+13G>C r.(=) p.(=) g.69715681G>C Copied from the Exome Variant Server KIF23_000054 2/12972 0/8588 2/4384
?/? c.735-21T>A r.(=) p.(=) g.69718388T>A Copied from the Exome Variant Server KIF23_000055 1/12994 1/8596 0/4398
?/? c.756T>C r.(=) p.(=) g.69718430T>C Copied from the Exome Variant Server KIF23_000056 2/12994 2/8596 0/4398
?/? c.773A>G r.(?) p.(His258Arg) g.69718447A>G Copied from the Exome Variant Server KIF23_000057 1/12994 0/8596 1/4398
?/? c.847+24A>G r.(=) p.(=) g.69718545A>G Copied from the Exome Variant Server KIF23_000058 99/12994 4/8596 95/4398
?/? c.847+26A>G r.(=) p.(=) g.69718547A>G Copied from the Exome Variant Server KIF23_000059 1/12994 1/8596 0/4398
?/? c.848-39T>A r.(=) p.(=) g.69718636T>A Copied from the Exome Variant Server KIF23_000060 1/12994 0/8596 1/4398
?/? c.848-14C>T r.(=) p.(=) g.69718661C>T Copied from the Exome Variant Server KIF23_000061 1/12994 1/8596 0/4398
?/? c.886C>T r.(?) p.(Arg296Cys) g.69718713C>T Copied from the Exome Variant Server KIF23_000062 3/12994 0/8596 3/4398
?/? c.933G>A r.(=) p.(=) g.69718760G>A Copied from the Exome Variant Server KIF23_000063 1/12994 1/8596 0/4398
?/? c.958A>G r.(?) p.(Asn320Asp) g.69718785A>G Copied from the Exome Variant Server KIF23_000064 1/12994 1/8596 0/4398
?/? c.959A>G r.(?) p.(Asn320Ser) g.69718786A>G Copied from the Exome Variant Server KIF23_000065 1/12994 0/8596 1/4398
?/? c.969+30G>A r.(=) p.(=) g.69718826G>A Copied from the Exome Variant Server KIF23_000066 1/12994 1/8596 0/4398
?/? c.970-17C>T r.(=) p.(=) g.69721433C>T Copied from the Exome Variant Server KIF23_000067 3/12994 3/8596 0/4398
?/? c.988A>G r.(?) p.(Ile330Val) g.69721468A>G Copied from the Exome Variant Server KIF23_000068 1/12994 1/8596 0/4398
?/? c.1072+34A>C r.(=) p.(=) g.69721586A>C Copied from the Exome Variant Server KIF23_000069 114/12994 2/8596 112/4398
?/? c.1073-49C>A r.(=) p.(=) g.69727773C>A Copied from the Exome Variant Server KIF23_000070 111/12994 1/8596 110/4398
?/? c.1073-15_1073-14insT r.(=) p.(=) g.69727807_69727808insT Copied from the Exome Variant Server KIF23_000071 345/12518 3/8254 342/4264
?/? c.1073-15_1073-14insTT r.(=) p.(=) g.69727807_69727808insTT Copied from the Exome Variant Server KIF23_000072 2/12518 0/8254 2/4264
?/? c.1073-3C>T r.spl? p.? g.69727819C>T Copied from the Exome Variant Server KIF23_000073 1/12994 0/8596 1/4398
?/? c.1074T>C r.(=) p.(=) g.69727823T>C Copied from the Exome Variant Server KIF23_000074 1/12994 0/8596 1/4398
?/? c.1097C>T r.(?) p.(Thr366Met) g.69727846C>T Copied from the Exome Variant Server KIF23_000075 1/12994 1/8596 0/4398
?/? c.1134A>G r.(=) p.(=) g.69727883A>G Copied from the Exome Variant Server KIF23_000076 5/12994 0/8596 5/4398
?/? c.1142G>C r.(?) p.(Gly381Ala) g.69727891G>C Copied from the Exome Variant Server KIF23_000077 1/12994 1/8596 0/4398
?/? c.1152+4A>G r.spl? p.? g.69727905A>G Copied from the Exome Variant Server KIF23_000078 1/12994 1/8596 0/4398
?/? c.1153-44G>A r.(=) p.(=) g.69727947G>A Copied from the Exome Variant Server KIF23_000079 1/12994 1/8596 0/4398
?/? c.1153-42_1153-41insT r.(=) p.(=) g.69727949_69727950insT Copied from the Exome Variant Server KIF23_000080 2/12518 1/8254 1/4264
?/? c.1153-32C>T r.(=) p.(=) g.69727959C>T Copied from the Exome Variant Server KIF23_000081 119/12994 3/8596 116/4398
?/? c.1153-23T>A r.(=) p.(=) g.69727968T>A Copied from the Exome Variant Server KIF23_000082 1/12994 0/8596 1/4398
?/? c.1153-22T>A r.(=) p.(=) g.69727969T>A Copied from the Exome Variant Server KIF23_000083 2/12994 0/8596 2/4398
?/? c.1272+10A>G r.(=) p.(=) g.69728120A>G Copied from the Exome Variant Server KIF23_000084 3/12994 0/8596 3/4398
?/? c.1281G>C r.(?) p.(Met427Ile) g.69728485G>C Copied from the Exome Variant Server KIF23_000085 1/12994 1/8596 0/4398
?/? c.1289C>T r.(?) p.(Ala430Val) g.69728493C>T Copied from the Exome Variant Server KIF23_000086 1/12994 1/8596 0/4398
?/? c.1316C>G r.(?) p.(Ala439Gly) g.69728520C>G Copied from the Exome Variant Server KIF23_000087 1/12994 1/8596 0/4398
?/? c.1326A>C r.(=) p.(=) g.69728530A>C Copied from the Exome Variant Server KIF23_000088 630/12994 301/8596 329/4398
?/? c.1341T>C r.(=) p.(=) g.69728545T>C Copied from the Exome Variant Server KIF23_000089 1/12994 0/8596 1/4398
?/? c.1350G>A r.(=) p.(=) g.69728554G>A Copied from the Exome Variant Server KIF23_000090 1/12994 0/8596 1/4398
?/? c.1379G>A r.(?) p.(Arg460Gln) g.69728583G>A Copied from the Exome Variant Server KIF23_000091 1/12994 1/8596 0/4398
?/? c.1396+43C>T r.(=) p.(=) g.69728643C>T Copied from the Exome Variant Server KIF23_000092 1/12994 0/8596 1/4398
?/? c.1397-40T>G r.(=) p.(=) g.69728863T>G Copied from the Exome Variant Server KIF23_000093 8/12994 0/8596 8/4398
?/? c.1397-36A>G r.(=) p.(=) g.69728867A>G Copied from the Exome Variant Server KIF23_000094 1/12994 0/8596 1/4398
?/? c.1443A>G r.(=) p.(=) g.69728949A>G Copied from the Exome Variant Server KIF23_000095 11029/12994 8328/8596 2701/4398
?/? c.1450G>A r.(?) p.(Glu484Lys) g.69728956G>A Copied from the Exome Variant Server KIF23_000096 1/12994 0/8596 1/4398
?/? c.1470T>C r.(=) p.(=) g.69728976T>C Copied from the Exome Variant Server KIF23_000097 5/12994 5/8596 0/4398
?/? c.1543T>C r.(?) p.(Phe515Leu) g.69729049T>C Copied from the Exome Variant Server KIF23_000098 138/12994 126/8596 12/4398
?/? c.1555+38A>G r.(=) p.(=) g.69729099A>G Copied from the Exome Variant Server KIF23_000100 1/12438 0/8360 1/4078
?/? c.1555+38del r.(=) p.(=) g.69729099del Copied from the Exome Variant Server KIF23_000099 138/11884 97/7976 41/3908
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