Unique variants in gene THOC5

Information The variants shown are described using the NM_003678.4 transcript reference sequence.

143 entries on 2 pages. Showing entries 1 - 100.
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Reported     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
1 c.-11-40T>C r.(=) p.(=) g.29945187A>G Copied from the Exome Variant Server THOC5_000143 8/13006 0/8600 8/4406
1 c.-11-5A>C r.spl? p.? g.29945152T>G Copied from the Exome Variant Server THOC5_000142 1/13006 0/8600 1/4406
1 c.15G>A r.(=) p.(=) g.29945122C>T Copied from the Exome Variant Server THOC5_000141 6/13006 0/8600 6/4406
1 c.49G>A r.(?) p.(Asp17Asn) g.29945088C>T Copied from the Exome Variant Server THOC5_000140 1/13006 0/8600 1/4406
1 c.79C>A r.(=) p.(=) g.29945058G>T Copied from the Exome Variant Server THOC5_000139 1/13006 0/8600 1/4406
1 c.96+20C>A r.(=) p.(=) g.29945021G>T Copied from the Exome Variant Server THOC5_000138 1/13006 1/8600 0/4406
1 c.109T>C r.(?) p.(Tyr37His) g.29940580A>G Copied from the Exome Variant Server THOC5_000137 1/13006 0/8600 1/4406
1 c.133C>G r.(?) p.(Leu45Val) g.29940556G>C Copied from the Exome Variant Server THOC5_000136 39/13006 36/8600 3/4406
1 c.136C>T r.(?) p.(Arg46Trp) g.29940553G>A Copied from the Exome Variant Server THOC5_000135 1/13006 1/8600 0/4406
1 c.186A>T r.(=) p.(=) g.29940503T>A Copied from the Exome Variant Server THOC5_000134 1/13006 1/8600 0/4406
1 c.220A>G r.(?) p.(Ser74Gly) g.29940469T>C Copied from the Exome Variant Server THOC5_000133 1/13006 1/8600 0/4406
1 c.240+23C>T r.(=) p.(=) g.29940426G>A Copied from the Exome Variant Server THOC5_000132 1/13006 0/8600 1/4406
1 c.241-12C>G r.(=) p.(=) g.29939543G>C Copied from the Exome Variant Server THOC5_000131 1/13006 0/8600 1/4406
1 c.351C>T r.(=) p.(=) g.29939421G>A Copied from the Exome Variant Server THOC5_000130 1/13006 1/8600 0/4406
1 c.354+4G>A r.spl? p.? g.29939414C>T Copied from the Exome Variant Server THOC5_000129 39/13006 36/8600 3/4406
1 c.354+15del r.(=) p.(=) g.29939403del Copied from the Exome Variant Server THOC5_000128 23/12518 18/8254 5/4264
1 c.354+27C>A r.(=) p.(=) g.29939391G>T Copied from the Exome Variant Server THOC5_000127 74/13004 1/8600 73/4404
1 c.355-42C>G r.(=) p.(=) g.29938987G>C Copied from the Exome Variant Server THOC5_000126 2/13006 2/8600 0/4406
1 c.355-31C>T r.(=) p.(=) g.29938976G>A Copied from the Exome Variant Server THOC5_000125 16/13006 16/8600 0/4406
1 c.355-25A>G r.(=) p.(=) g.29938970T>C Copied from the Exome Variant Server THOC5_000124 1/13006 0/8600 1/4406
1 c.362A>G r.(?) p.(Gln121Arg) g.29938938T>C Copied from the Exome Variant Server THOC5_000123 1/13006 1/8600 0/4406
1 c.420A>G r.(=) p.(=) g.29938880T>C Copied from the Exome Variant Server THOC5_000122 1/13006 0/8600 1/4406
1 c.452+34G>A r.(=) p.(=) g.29938814C>T Copied from the Exome Variant Server THOC5_000121 1/13006 1/8600 0/4406
1 c.452+41C>A r.(=) p.(=) g.29938807G>T Copied from the Exome Variant Server THOC5_000120 310/13006 2/8600 308/4406
1 c.452+50C>T r.(=) p.(=) g.29938798G>A Copied from the Exome Variant Server THOC5_000119 3/13006 0/8600 3/4406
1 c.453-51A>G r.(=) p.(=) g.29935516T>C Copied from the Exome Variant Server THOC5_000118 1/13006 1/8600 0/4406
1 c.453-42T>A r.(=) p.(=) g.29935507A>T Copied from the Exome Variant Server THOC5_000117 3/13006 0/8600 3/4406
1 c.453-8G>A r.(=) p.(=) g.29935473C>T Copied from the Exome Variant Server THOC5_000116 1/13006 0/8600 1/4406
1 c.453-4G>A r.spl? p.? g.29935469C>T Copied from the Exome Variant Server THOC5_000115 1/13006 1/8600 0/4406
1 c.496T>C r.(?) p.(Tyr166His) g.29935422A>G Copied from the Exome Variant Server THOC5_000114 1/13006 1/8600 0/4406
1 c.509C>T r.(?) p.(Pro170Leu) g.29935409G>A Copied from the Exome Variant Server THOC5_000113 1/13006 1/8600 0/4406
1 c.600-31C>T r.(=) p.(=) g.29932758G>A Copied from the Exome Variant Server THOC5_000112 1/13006 0/8600 1/4406
1 c.600-3C>A r.spl? p.? g.29932730G>T Copied from the Exome Variant Server THOC5_000111 4/13006 0/8600 4/4406
1 c.612G>A r.(=) p.(=) g.29932715C>T Copied from the Exome Variant Server THOC5_000110 1/13006 0/8600 1/4406
1 c.714+46G>A r.(=) p.(=) g.29932567C>T Copied from the Exome Variant Server THOC5_000109 1/13006 0/8600 1/4406
1 c.715-49T>C r.(=) p.(=) g.29928001A>G Copied from the Exome Variant Server THOC5_000108 1/13006 1/8600 0/4406
1 c.715-15G>C r.(=) p.(=) g.29927967C>G Copied from the Exome Variant Server THOC5_000107 181/13006 169/8600 12/4406
1 c.715-9T>C r.(=) p.(=) g.29927961A>G Copied from the Exome Variant Server THOC5_000106 50/13006 0/8600 50/4406
1 c.764A>G r.(?) p.(His255Arg) g.29927903T>C Copied from the Exome Variant Server THOC5_000105 5/13006 0/8600 5/4406
1 c.794C>T r.(?) p.(Pro265Leu) g.29927873G>A Copied from the Exome Variant Server THOC5_000104 1/13006 1/8600 0/4406
1 c.795G>A r.(=) p.(=) g.29927872C>T Copied from the Exome Variant Server THOC5_000103 2/13006 2/8600 0/4406
1 c.830C>T r.(?) p.(Ala277Val) g.29927837G>A Copied from the Exome Variant Server THOC5_000102 1/13006 1/8600 0/4406
1 c.831G>A r.(=) p.(=) g.29927836C>T Copied from the Exome Variant Server THOC5_000101 150/13006 135/8600 15/4406
1 c.848-56A>G r.(=) p.(=) g.29925284T>C Copied from the Exome Variant Server THOC5_000100 915/4566 721/3182 194/1384
1 c.848-3_848-2insC r.spl? p.? g.29925230_29925231insG Copied from the Exome Variant Server THOC5_000099 1/12518 1/8254 0/4264
1 c.853A>C r.(?) p.(Thr285Pro) g.29925223T>G Copied from the Exome Variant Server THOC5_000098 1/13006 1/8600 0/4406
1 c.854C>A r.(?) p.(Thr285Lys) g.29925222G>T Copied from the Exome Variant Server THOC5_000097 1/13006 1/8600 0/4406
1 c.855G>A r.(=) p.(=) g.29925221C>T Copied from the Exome Variant Server THOC5_000096 73/13006 49/8600 24/4406
1 c.925+7T>C r.(=) p.(=) g.29925144A>G Copied from the Exome Variant Server THOC5_000095 3/13006 3/8600 0/4406
1 c.925+9G>A r.(=) p.(=) g.29925142C>T Copied from the Exome Variant Server THOC5_000094 4/13006 0/8600 4/4406
1 c.925+11_925+13del r.(=) p.(=) g.29925138_29925140del Copied from the Exome Variant Server THOC5_000093 93/12518 60/8254 33/4264
1 c.925+17G>T r.(=) p.(=) g.29925134C>A Copied from the Exome Variant Server THOC5_000092 1/13006 1/8600 0/4406
1 c.925+18A>G r.(=) p.(=) g.29925133T>C Copied from the Exome Variant Server THOC5_000091 1/13006 1/8600 0/4406
1 c.925+22G>A r.(=) p.(=) g.29925129C>T Copied from the Exome Variant Server THOC5_000090 1/13006 1/8600 0/4406
1 c.925+25C>T r.(=) p.(=) g.29925126G>A Copied from the Exome Variant Server THOC5_000089 2/13006 2/8600 0/4406
1 c.926-29_926-27del r.(=) p.(=) g.29924482_29924484del Copied from the Exome Variant Server THOC5_000088 225/12518 2/8254 223/4264
1 c.930C>T r.(=) p.(=) g.29924451G>A Copied from the Exome Variant Server THOC5_000087 1/13006 1/8600 0/4406
1 c.939C>T r.(=) p.(=) g.29924442G>A Copied from the Exome Variant Server THOC5_000086 5/13006 0/8600 5/4406
1 c.948C>T r.(=) p.(=) g.29924433G>A Copied from the Exome Variant Server THOC5_000085 3/13006 3/8600 0/4406
1 c.966+18T>C r.(=) p.(=) g.29924397A>G Copied from the Exome Variant Server THOC5_000084 1/13006 1/8600 0/4406
1 c.966+28A>G r.(=) p.(=) g.29924387T>C Copied from the Exome Variant Server THOC5_000083 1/13006 0/8600 1/4406
1 c.966+49G>C r.(=) p.(=) g.29924366C>G Copied from the Exome Variant Server THOC5_000082 1/13006 1/8600 0/4406
1 c.966+72G>A r.(=) p.(=) g.29924343C>T Copied from the Exome Variant Server THOC5_000081 10/4566 6/3182 4/1384
1 c.967-51G>A r.(=) p.(=) g.29924217C>T Copied from the Exome Variant Server THOC5_000080 7/13006 0/8600 7/4406
1 c.967-46A>G r.(=) p.(=) g.29924212T>C Copied from the Exome Variant Server THOC5_000079 2556/13006 1992/8600 564/4406
1 c.967-40A>G r.(=) p.(=) g.29924206T>C Copied from the Exome Variant Server THOC5_000078 1/13006 0/8600 1/4406
1 c.967-37A>G r.(=) p.(=) g.29924203T>C Copied from the Exome Variant Server THOC5_000077 1/13006 1/8600 0/4406
1 c.967-33A>G r.(=) p.(=) g.29924199T>C Copied from the Exome Variant Server THOC5_000076 1/13006 0/8600 1/4406
1 c.967-32T>C r.(=) p.(=) g.29924198A>G Copied from the Exome Variant Server THOC5_000075 1/13006 1/8600 0/4406
1 c.1038G>C r.(=) p.(=) g.29924095C>G Copied from the Exome Variant Server THOC5_000074 1/13006 1/8600 0/4406
1 c.1053C>T r.(=) p.(=) g.29924080G>A Copied from the Exome Variant Server THOC5_000073 1/13006 1/8600 0/4406
1 c.1066+52C>G r.(=) p.(=) g.29924015G>C Copied from the Exome Variant Server THOC5_000072 14/5734 0/3982 14/1752
1 c.1067-45C>A r.(=) p.(=) g.29921980G>T Copied from the Exome Variant Server THOC5_000071 1/13006 0/8600 1/4406
1 c.1067-34G>T r.(=) p.(=) g.29921969C>A Copied from the Exome Variant Server THOC5_000070 3/13006 3/8600 0/4406
1 c.1067-12C>T r.(=) p.(=) g.29921947G>A Copied from the Exome Variant Server THOC5_000069 1/13006 1/8600 0/4406
1 c.1072A>G r.(?) p.(Ser358Gly) g.29921930T>C Copied from the Exome Variant Server THOC5_000068 2/13006 0/8600 2/4406
1 c.1154T>C r.(?) p.(Leu385Pro) g.29921848A>G Copied from the Exome Variant Server THOC5_000067 1/13006 1/8600 0/4406
1 c.1155G>A r.(=) p.(=) g.29921847C>T Copied from the Exome Variant Server THOC5_000066 1/13006 0/8600 1/4406
1 c.1161C>T r.(=) p.(=) g.29921841G>A Copied from the Exome Variant Server THOC5_000065 1/13006 0/8600 1/4406
1 c.1175+21G>A r.(=) p.(=) g.29921806C>T Copied from the Exome Variant Server THOC5_000064 1/13006 1/8600 0/4406
1 c.1175+28C>T r.(=) p.(=) g.29921799G>A Copied from the Exome Variant Server THOC5_000063 1/13006 1/8600 0/4406
1 c.1176-34G>A r.(=) p.(=) g.29917122C>T Copied from the Exome Variant Server THOC5_000062 1/13006 1/8600 0/4406
1 c.1176-23G>T r.(=) p.(=) g.29917111C>A Copied from the Exome Variant Server THOC5_000061 2/13006 2/8600 0/4406
1 c.1176-20_1176-17del r.(=) p.(=) g.29917105_29917108del Copied from the Exome Variant Server THOC5_000060 1/12518 1/8254 0/4264
1 c.1277+4A>G r.spl? p.? g.29916983T>C Copied from the Exome Variant Server THOC5_000059 1/13006 1/8600 0/4406
1 c.1277+24C>T r.(=) p.(=) g.29916963G>A Copied from the Exome Variant Server THOC5_000058 75/13006 44/8600 31/4406
1 c.1277+26G>A r.(=) p.(=) g.29916961C>T Copied from the Exome Variant Server THOC5_000057 1/13006 1/8600 0/4406
1 c.1278-47A>C r.(=) p.(=) g.29916140T>G Copied from the Exome Variant Server THOC5_000056 4/13006 0/8600 4/4406
1 c.1306G>A r.(?) p.(Glu436Lys) g.29916065C>T Copied from the Exome Variant Server THOC5_000055 1/13006 1/8600 0/4406
1 c.1324T>A r.(?) p.(Leu442Met) g.29916047A>T Copied from the Exome Variant Server THOC5_000054 4/13006 4/8600 0/4406
1 c.1370C>T r.(?) p.(Pro457Leu) g.29916001G>A Copied from the Exome Variant Server THOC5_000053 1/13006 1/8600 0/4406
1 c.1374+11T>C r.(=) p.(=) g.29915986A>G Copied from the Exome Variant Server THOC5_000052 1/13006 0/8600 1/4406
1 c.1374+35G>A r.(=) p.(=) g.29915962C>T Copied from the Exome Variant Server THOC5_000051 1/13006 1/8600 0/4406
1 c.1375-42G>T r.(=) p.(=) g.29915151C>A Copied from the Exome Variant Server THOC5_000050 7/13006 0/8600 7/4406
1 c.1375-35G>A r.(=) p.(=) g.29915144C>T Copied from the Exome Variant Server THOC5_000049 3348/13006 2352/8600 996/4406
1 c.1375-28C>T r.(=) p.(=) g.29915137G>A Copied from the Exome Variant Server THOC5_000048 1/13006 0/8600 1/4406
1 c.1375-21G>A r.(=) p.(=) g.29915130C>T Copied from the Exome Variant Server THOC5_000047 1/13006 0/8600 1/4406
1 c.1379C>G r.(?) p.(Thr460Arg) g.29915105G>C Copied from the Exome Variant Server THOC5_000046 1/13006 1/8600 0/4406
1 c.1442C>T r.(?) p.(Thr481Ile) g.29915042G>A Copied from the Exome Variant Server THOC5_000045 1/13006 1/8600 0/4406
1 c.1467C>T r.(=) p.(=) g.29915017G>A Copied from the Exome Variant Server THOC5_000044 1/13006 1/8600 0/4406
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