All transcript variants in gene GTDC1

Information The variants shown are described using the NM_024659.4 transcript reference sequence.

98 entries on 1 page. Showing entries 1 - 98.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-23-21C>T r.(=) p.(=) g.144966392G>A Copied from the Exome Variant Server GTDC1_000098 1/12984 1/8594 0/4390
?/? c.-22A>T r.(=) p.(=) g.144966370T>A Copied from the Exome Variant Server GTDC1_000097 1/13006 1/8600 0/4406
?/? c.6T>C r.(=) p.(=) g.144966343A>G Copied from the Exome Variant Server GTDC1_000096 4/13006 0/8600 4/4406
?/? c.29A>G r.(?) p.(Tyr10Cys) g.144966320T>C Copied from the Exome Variant Server GTDC1_000095 2/13006 1/8600 1/4406
?/? c.53T>A r.(?) p.(Val18Glu) g.144966296A>T Copied from the Exome Variant Server GTDC1_000094 1/13006 1/8600 0/4406
?/? c.81C>T r.(=) p.(=) g.144966268G>A Copied from the Exome Variant Server GTDC1_000093 1/13006 0/8600 1/4406
?/? c.87C>T r.(=) p.(=) g.144966262G>A Copied from the Exome Variant Server GTDC1_000092 4/13006 1/8600 3/4406
?/? c.88G>A r.(?) p.(Val30Ile) g.144966261C>T Copied from the Exome Variant Server GTDC1_000091 1/13006 1/8600 0/4406
?/? c.100C>G r.(?) p.(Pro34Ala) g.144966249G>C Copied from the Exome Variant Server GTDC1_000090 1/13006 1/8600 0/4406
?/? c.127C>T r.(?) p.(Arg43Trp) g.144966222G>A Copied from the Exome Variant Server GTDC1_000089 4/13006 3/8600 1/4406
?/? c.128G>A r.(?) p.(Arg43Gln) g.144966221C>T Copied from the Exome Variant Server GTDC1_000088 3/13006 3/8600 0/4406
?/? c.141A>G r.(=) p.(=) g.144966208T>C Copied from the Exome Variant Server GTDC1_000087 570/13006 2/8600 568/4406
?/? c.179+29C>T r.(=) p.(=) g.144966141G>A Copied from the Exome Variant Server GTDC1_000086 1/13006 1/8600 0/4406
?/? c.179+30G>A r.(=) p.(=) g.144966140C>T Copied from the Exome Variant Server GTDC1_000085 1/13006 1/8600 0/4406
?/? c.180-3T>C r.spl? p.? g.144903309A>G Copied from the Exome Variant Server GTDC1_000084 1/13006 1/8600 0/4406
?/? c.200T>C r.(?) p.(Val67Ala) g.144903286A>G Copied from the Exome Variant Server GTDC1_000083 1/13006 0/8600 1/4406
?/? c.213C>T r.(=) p.(=) g.144903273G>A Copied from the Exome Variant Server GTDC1_000082 3/13006 3/8600 0/4406
?/? c.237C>G r.(?) p.(Asp79Glu) g.144903249G>C Copied from the Exome Variant Server GTDC1_000081 1/13006 1/8600 0/4406
?/? c.240T>C r.(=) p.(=) g.144903246A>G Copied from the Exome Variant Server GTDC1_000080 2/13006 0/8600 2/4406
?/? c.295A>C r.(?) p.(Lys99Gln) g.144903191T>G Copied from the Exome Variant Server GTDC1_000079 1/13002 1/8598 0/4404
?/? c.304C>T r.(?) p.(Gln102*) g.144903182G>A Copied from the Exome Variant Server GTDC1_000078 2/13004 2/8600 0/4404
?/? c.347+5G>A r.spl? p.? g.144903134C>T Copied from the Exome Variant Server GTDC1_000077 1/13000 1/8596 0/4404
?/? c.379G>T r.(?) p.(Val127Phe) g.144899591C>A Copied from the Exome Variant Server GTDC1_000076 50/13004 0/8598 50/4406
?/? c.389T>C r.(?) p.(Met130Thr) g.144899581A>G Copied from the Exome Variant Server GTDC1_000075 2/13004 1/8598 1/4406
?/? c.407C>T r.(?) p.(Ser136Phe) g.144899563G>A Copied from the Exome Variant Server GTDC1_000074 6/13004 0/8598 6/4406
?/? c.411G>T r.(?) p.(Met137Ile) g.144899559C>A Copied from the Exome Variant Server GTDC1_000073 7415/13004 4206/8598 3209/4406
?/? c.412G>C r.(?) p.(Gly138Arg) g.144899558C>G Copied from the Exome Variant Server GTDC1_000072 1/13004 1/8598 0/4406
?/? c.415A>G r.(?) p.(Lys139Glu) g.144899555T>C Copied from the Exome Variant Server GTDC1_000071 1/13004 0/8598 1/4406
?/? c.436G>A r.(?) p.(Asp146Asn) g.144899534C>T Copied from the Exome Variant Server GTDC1_000070 1/13004 1/8598 0/4406
?/? c.446C>G r.(?) p.(Pro149Arg) g.144899524G>C Copied from the Exome Variant Server GTDC1_000069 1/13004 1/8598 0/4406
?/? c.461G>A r.(?) p.(Ser154Asn) g.144899509C>T Copied from the Exome Variant Server GTDC1_000068 2/13006 2/8600 0/4406
?/? c.483A>G r.(=) p.(=) g.144899487T>C Copied from the Exome Variant Server GTDC1_000067 1/13006 0/8600 1/4406
?/? c.488T>C r.(?) p.(Ile163Thr) g.144899482A>G Copied from the Exome Variant Server GTDC1_000066 249/13006 4/8600 245/4406
?/? c.513T>A r.(?) p.(Asp171Glu) g.144899457A>T Copied from the Exome Variant Server GTDC1_000065 10/13006 0/8600 10/4406
?/? c.521+35C>T r.(=) p.(=) g.144899414G>A Copied from the Exome Variant Server GTDC1_000064 1/13006 1/8600 0/4406
?/? c.522-53del r.(=) p.(=) g.144765155del Copied from the Exome Variant Server GTDC1_000063 53/12434 2/8186 51/4248
?/? c.522-8del r.(=) p.(=) g.144765110del Copied from the Exome Variant Server GTDC1_000062 4/12518 4/8252 0/4266
?/? c.526A>G r.(?) p.(Met176Val) g.144765098T>C Copied from the Exome Variant Server GTDC1_000061 1/13006 1/8600 0/4406
?/? c.548A>G r.(?) p.(His183Arg) g.144765076T>C Copied from the Exome Variant Server GTDC1_000060 11/13006 0/8600 11/4406
?/? c.564C>T r.(=) p.(=) g.144765060G>A Copied from the Exome Variant Server GTDC1_000058 7/13006 7/8600 0/4406
?/? c.565G>A r.(?) p.(Gly189Ser) g.144765059C>T Copied from the Exome Variant Server GTDC1_000056 1/13006 1/8600 0/4406
?/? c.569T>G r.(?) p.(Leu190Arg) g.144765055A>C Copied from the Exome Variant Server GTDC1_000054 52/13006 4/8600 48/4406
?/? c.587C>G r.(?) p.(Ala196Gly) g.144765037G>C Copied from the Exome Variant Server GTDC1_000052 1/13006 1/8600 0/4406
?/? c.588G>A r.(=) p.(=) g.144765036C>T Copied from the Exome Variant Server GTDC1_000051 1/13006 1/8600 0/4406
?/? c.598A>G r.(?) p.(Met200Val) g.144765026T>C Copied from the Exome Variant Server GTDC1_000049 119/13006 109/8600 10/4406
?/? c.651T>C r.(=) p.(=) g.144764973A>G Copied from the Exome Variant Server GTDC1_000047 1/13006 1/8600 0/4406
?/? c.662A>T r.(?) p.(Glu221Val) g.144764962T>A Copied from the Exome Variant Server GTDC1_000045 1/13006 1/8600 0/4406
?/? c.666T>C r.(=) p.(=) g.144764958A>G Copied from the Exome Variant Server GTDC1_000043 4/13006 3/8600 1/4406
?/? c.679G>A r.(?) p.(Gly227Ser) g.144764945C>T Copied from the Exome Variant Server GTDC1_000059 3/13006 0/8600 3/4406
?/? c.697C>A r.(?) p.(Gln233Lys) g.144764927G>T Copied from the Exome Variant Server GTDC1_000057 5/13006 0/8600 5/4406
?/? c.713A>G r.(?) p.(Asn238Ser) g.144764911T>C Copied from the Exome Variant Server GTDC1_000055 1/13006 1/8600 0/4406
?/? c.746C>T r.(?) p.(Ser249Phe) g.144764878G>A Copied from the Exome Variant Server GTDC1_000053 1/13006 0/8600 1/4406
?/? c.749C>G r.(?) p.(Thr250Ser) g.144764875G>C Copied from the Exome Variant Server GTDC1_000050 4/13006 0/8600 4/4406
?/? c.766A>G r.(?) p.(Ser256Gly) g.144764858T>C Copied from the Exome Variant Server GTDC1_000048 2/13006 2/8600 0/4406
?/? c.779G>A r.(?) p.(Gly260Asp) g.144764845C>T Copied from the Exome Variant Server GTDC1_000046 1/13006 1/8600 0/4406
?/? c.824G>A r.(?) p.(Gly275Asp) g.144764800C>T Copied from the Exome Variant Server GTDC1_000044 7/13006 7/8600 0/4406
?/? c.868C>T r.(?) p.(His290Tyr) g.144764756G>A Copied from the Exome Variant Server GTDC1_000042 2/13006 2/8600 0/4406
?/? c.875+1G>A r.spl? p.? g.144764748C>T Copied from the Exome Variant Server GTDC1_000041 1/13006 0/8600 1/4406
?/? c.876-17890T>C r.(=) p.(=) g.144728300A>G Copied from the Exome Variant Server GTDC1_000040 1/13006 1/8600 0/4406
?/? c.876-17847C>T r.(=) p.(=) g.144728257G>A Copied from the Exome Variant Server GTDC1_000039 1/13006 1/8600 0/4406
?/? c.876-17782A>G r.(=) p.(=) g.144728192T>C Copied from the Exome Variant Server GTDC1_000038 1/13006 0/8600 1/4406
?/? c.876-17777T>A r.(=) p.(=) g.144728187A>T Copied from the Exome Variant Server GTDC1_000037 24/13006 23/8600 1/4406
?/? c.876-17768C>T r.(=) p.(=) g.144728178G>A Copied from the Exome Variant Server GTDC1_000036 1/13006 0/8600 1/4406
?/? c.876-17762C>T r.(=) p.(=) g.144728172G>A Copied from the Exome Variant Server GTDC1_000035 1/13006 1/8600 0/4406
?/? c.876-4504T>C r.(=) p.(=) g.144714914A>G Copied from the Exome Variant Server GTDC1_000034 1/13004 1/8598 0/4406
?/? c.876-4495T>C r.(=) p.(=) g.144714905A>G Copied from the Exome Variant Server GTDC1_000033 2/13006 0/8600 2/4406
?/? c.876-4493T>A r.(=) p.(=) g.144714903A>T Copied from the Exome Variant Server GTDC1_000032 6/13006 6/8600 0/4406
?/? c.876-4421A>G r.(=) p.(=) g.144714831T>C Copied from the Exome Variant Server GTDC1_000031 1/13006 0/8600 1/4406
?/? c.876-4411A>G r.(=) p.(=) g.144714821T>C Copied from the Exome Variant Server GTDC1_000029 1/13006 1/8600 0/4406
?/? c.876-4404A>G r.(=) p.(=) g.144714814T>C Copied from the Exome Variant Server GTDC1_000027 1/13006 0/8600 1/4406
?/? c.876-4401G>C r.(=) p.(=) g.144714811C>G Copied from the Exome Variant Server GTDC1_000025 1/13006 1/8600 0/4406
?/? c.876-4353A>G r.(=) p.(=) g.144714763T>C Copied from the Exome Variant Server GTDC1_000023 2/13006 0/8600 2/4406
?/? c.876-51A>G r.(=) p.(=) g.144710461T>C Copied from the Exome Variant Server GTDC1_000021 1/12944 1/8576 0/4368
?/? c.886G>A r.(?) p.(Val296Met) g.144710400C>T Copied from the Exome Variant Server GTDC1_000030 2/13002 2/8596 0/4406
?/? c.907C>T r.(?) p.(Leu303Phe) g.144710379G>A Copied from the Exome Variant Server GTDC1_000028 1/13002 1/8598 0/4404
?/? c.916A>G r.(?) p.(Lys306Glu) g.144710370T>C Copied from the Exome Variant Server GTDC1_000026 3/13002 3/8598 0/4404
?/? c.934G>A r.(?) p.(Glu312Lys) g.144710352C>T Copied from the Exome Variant Server GTDC1_000024 7/12998 7/8596 0/4402
?/? c.944C>G r.(?) p.(Pro315Arg) g.144710342G>C Copied from the Exome Variant Server GTDC1_000022 4/12996 4/8594 0/4402
?/? c.946+17A>G r.(=) p.(=) g.144710323T>C Copied from the Exome Variant Server GTDC1_000020 612/12994 6/8594 606/4400
?/? c.946+42A>G r.(=) p.(=) g.144710298T>C Copied from the Exome Variant Server GTDC1_000019 1/12976 1/8580 0/4396
?/? c.946+45T>C r.(=) p.(=) g.144710295A>G Copied from the Exome Variant Server GTDC1_000018 1594/12974 878/8580 716/4394
?/? c.947-18T>C r.(=) p.(=) g.144709658A>G Copied from the Exome Variant Server GTDC1_000017 3/12994 1/8590 2/4404
?/? c.947-13G>C r.(=) p.(=) g.144709653C>G Copied from the Exome Variant Server GTDC1_000016 1/12996 1/8592 0/4404
?/? c.957G>A r.(=) p.(=) g.144709630C>T Copied from the Exome Variant Server GTDC1_000015 1/12998 1/8594 0/4404
?/? c.972A>G r.(=) p.(=) g.144709615T>C Copied from the Exome Variant Server GTDC1_000014 2/12998 0/8594 2/4404
?/? c.1027C>T r.(?) p.(His343Tyr) g.144709560G>A Copied from the Exome Variant Server GTDC1_000013 1/13002 0/8598 1/4404
?/? c.1038+4G>C r.spl? p.? g.144709545C>G Copied from the Exome Variant Server GTDC1_000012 1/12994 1/8590 0/4404
?/? c.1039-13C>A r.(=) p.(=) g.144704715G>T Copied from the Exome Variant Server GTDC1_000011 1/13006 0/8600 1/4406
?/? c.1039-8C>T r.(=) p.(=) g.144704710G>A Copied from the Exome Variant Server GTDC1_000010 1/13006 0/8600 1/4406
?/? c.1039-7G>A r.(=) p.(=) g.144704709C>T Copied from the Exome Variant Server GTDC1_000009 1/13006 1/8600 0/4406
?/? c.1044A>G r.(=) p.(=) g.144704697T>C Copied from the Exome Variant Server GTDC1_000008 1/13006 1/8600 0/4406
?/? c.1052C>T r.(?) p.(Pro351Leu) g.144704689G>A Copied from the Exome Variant Server GTDC1_000007 7/13006 2/8600 5/4406
?/? c.1053G>T r.(=) p.(=) g.144704688C>A Copied from the Exome Variant Server GTDC1_000006 92/13006 1/8600 91/4406
?/? c.1060del r.(?) p.(Trp354Glyfs*25) g.144704681del Copied from the Exome Variant Server GTDC1_000005 1/12520 1/8254 0/4266
?/? c.1069C>G r.(?) p.(Leu357Val) g.144704672G>C Copied from the Exome Variant Server GTDC1_000004 1/13006 0/8600 1/4406
?/? c.1086G>T r.(?) p.(Arg362Ser) g.144704655C>A Copied from the Exome Variant Server GTDC1_000003 3/13006 0/8600 3/4406
?/? c.1101A>G r.(=) p.(=) g.144704640T>C Copied from the Exome Variant Server GTDC1_000002 1/13006 1/8600 0/4406
?/? c.*26C>T r.(=) p.(=) g.144704593G>A Copied from the Exome Variant Server GTDC1_000001 1/13006 0/8600 1/4406
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