All transcript variants in gene TSC1

Information The variants shown are described using the NM_000368.4 transcript reference sequence.

168 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>A r.(=) p.(=) g.135804294C>T Copied from the Exome Variant Server TSC1_000168 1/13006 1/8600 0/4406
?/? c.-20C>T r.(=) p.(=) g.135804279G>A Copied from the Exome Variant Server TSC1_000167 1/13006 1/8600 0/4406
?/? c.-16G>A r.(=) p.(=) g.135804275C>T Copied from the Exome Variant Server TSC1_000166 2/13006 2/8600 0/4406
?/? c.-7C>T r.(=) p.(=) g.135804266G>A Copied from the Exome Variant Server TSC1_000165 8/13006 7/8600 1/4406
?/? c.21C>G r.(=) p.(=) g.135804239G>C Copied from the Exome Variant Server TSC1_000164 6/13006 0/8600 6/4406
?/? c.65G>A r.(?) p.(Arg22Gln) g.135804195C>T Copied from the Exome Variant Server TSC1_000163 1/13006 0/8600 1/4406
?/? c.72C>T r.(=) p.(=) g.135804188G>A Copied from the Exome Variant Server TSC1_000162 1/13006 0/8600 1/4406
?/? c.106+4A>G r.spl? p.? g.135804150T>C Copied from the Exome Variant Server TSC1_000161 1/13006 1/8600 0/4406
?/? c.106+15A>G r.(=) p.(=) g.135804139T>C Copied from the Exome Variant Server TSC1_000160 1/13006 1/8600 0/4406
?/? c.106+47A>C r.(=) p.(=) g.135804107T>G Copied from the Exome Variant Server TSC1_000159 3/13006 3/8600 0/4406
?/? c.121C>T r.(?) p.(Leu41Phe) g.135802677G>A Copied from the Exome Variant Server TSC1_000158 1/13006 1/8600 0/4406
?/? c.135G>A r.(=) p.(=) g.135802663C>T Copied from the Exome Variant Server TSC1_000157 1/13006 1/8600 0/4406
?/? c.201A>G r.(=) p.(=) g.135802597T>C Copied from the Exome Variant Server TSC1_000156 2/13006 2/8600 0/4406
?/? c.210+18A>G r.(=) p.(=) g.135802570T>C Copied from the Exome Variant Server TSC1_000155 3/13006 3/8600 0/4406
?/? c.210+32T>C r.(=) p.(=) g.135802556A>G Copied from the Exome Variant Server TSC1_000154 1/13006 1/8600 0/4406
?/? c.210+33G>A r.(=) p.(=) g.135802555C>T Copied from the Exome Variant Server TSC1_000153 97/13006 88/8600 9/4406
?/? c.210+39C>T r.(=) p.(=) g.135802549G>A Copied from the Exome Variant Server TSC1_000152 1/13006 0/8600 1/4406
?/? c.211-11_211-10insT r.(=) p.(=) g.135801136_135801137insA Copied from the Exome Variant Server TSC1_000151 1/12518 1/8254 0/4264
?/? c.236A>G r.(?) p.(Tyr79Cys) g.135801101T>C Copied from the Exome Variant Server TSC1_000150 1/13006 1/8600 0/4406
?/? c.249C>T r.(=) p.(=) g.135801088G>A Copied from the Exome Variant Server TSC1_000149 1/13006 0/8600 1/4406
?/? c.250G>A r.(?) p.(Ala84Thr) g.135801087C>T Copied from the Exome Variant Server TSC1_000148 3/13006 3/8600 0/4406
?/? c.270C>T r.(=) p.(=) g.135801067G>A Copied from the Exome Variant Server TSC1_000147 1/13006 1/8600 0/4406
?/? c.273G>A r.(=) p.(=) g.135801064C>T Copied from the Exome Variant Server TSC1_000146 20/13006 0/8600 20/4406
?/? c.287T>C r.(?) p.(Val96Ala) g.135801050A>G Copied from the Exome Variant Server TSC1_000145 1/13006 0/8600 1/4406
?/? c.289A>G r.(?) p.(Ile97Val) g.135801048T>C Copied from the Exome Variant Server TSC1_000144 1/13006 0/8600 1/4406
?/? c.346T>G r.(?) p.(Leu116Val) g.135800991A>C Copied from the Exome Variant Server TSC1_000143 2/13006 2/8600 0/4406
?/? c.364-49T>C r.(=) p.(=) g.135798928A>G Copied from the Exome Variant Server TSC1_000142 1/13006 1/8600 0/4406
?/? c.378C>T r.(=) p.(=) g.135798865G>A Copied from the Exome Variant Server TSC1_000141 2/13006 0/8600 2/4406
?/? c.396C>T r.(=) p.(=) g.135798847G>A Copied from the Exome Variant Server TSC1_000140 1/13006 1/8600 0/4406
?/? c.402G>A r.(=) p.(=) g.135798841C>T Copied from the Exome Variant Server TSC1_000138 1/13006 0/8600 1/4406
?/? c.513C>T r.(=) p.(=) g.135797356G>A Copied from the Exome Variant Server TSC1_000136 1/13006 1/8600 0/4406
?/? c.542A>T r.(?) p.(His181Leu) g.135797327T>A Copied from the Exome Variant Server TSC1_000134 1/13006 0/8600 1/4406
?/? c.615T>C r.(=) p.(=) g.135797254A>G Copied from the Exome Variant Server TSC1_000132 3/13006 3/8600 0/4406
?/? c.663+29A>G r.(=) p.(=) g.135797177T>C Copied from the Exome Variant Server TSC1_000130 2/13006 2/8600 0/4406
?/? c.663+34G>A r.(=) p.(=) g.135797172C>T Copied from the Exome Variant Server TSC1_000139 1/13006 1/8600 0/4406
?/? c.663+38del r.(=) p.(=) g.135797168del Copied from the Exome Variant Server TSC1_000137 52/12518 0/8254 52/4264
?/? c.664-32C>T r.(=) p.(=) g.135796855G>A Copied from the Exome Variant Server TSC1_000135 1/13006 1/8600 0/4406
?/? c.664-22T>C r.(=) p.(=) g.135796845A>G Copied from the Exome Variant Server TSC1_000133 1/13006 1/8600 0/4406
?/? c.737+54G>A r.(=) p.(=) g.135796696C>T Copied from the Exome Variant Server TSC1_000131 1/4566 1/3182 0/1384
?/? c.782A>G r.(?) p.(Lys261Arg) g.135787800T>C Copied from the Exome Variant Server TSC1_000129 1/13006 1/8600 0/4406
?/? c.810A>G r.(=) p.(=) g.135787772T>C Copied from the Exome Variant Server TSC1_000128 3/13006 1/8600 2/4406
?/? c.819T>G r.(?) p.(Asp273Glu) g.135787763A>C Copied from the Exome Variant Server TSC1_000127 1/13006 1/8600 0/4406
?/? c.850C>T r.(?) p.(Arg284Cys) g.135787732G>A Copied from the Exome Variant Server TSC1_000126 1/13006 1/8600 0/4406
?/? c.851G>A r.(?) p.(Arg284His) g.135787731C>T Copied from the Exome Variant Server TSC1_000125 3/13006 3/8600 0/4406
?/? c.853T>G r.(?) p.(Phe285Val) g.135787729A>C Copied from the Exome Variant Server TSC1_000124 1/13006 1/8600 0/4406
?/? c.857C>G r.(?) p.(Pro286Arg) g.135787725G>C Copied from the Exome Variant Server TSC1_000123 1/13006 0/8600 1/4406
?/? c.876C>T r.(=) p.(=) g.135787706G>A Copied from the Exome Variant Server TSC1_000122 20/13006 0/8600 20/4406
?/? c.899C>T r.(?) p.(Thr300Ile) g.135787683G>A Copied from the Exome Variant Server TSC1_000121 1/13006 1/8600 0/4406
?/? c.912T>C r.(=) p.(=) g.135787670A>G Copied from the Exome Variant Server TSC1_000120 1/13006 0/8600 1/4406
?/? c.913+24T>C r.(=) p.(=) g.135787645A>G Copied from the Exome Variant Server TSC1_000119 1/13006 1/8600 0/4406
?/? c.913+35A>G r.(=) p.(=) g.135787634T>C Copied from the Exome Variant Server TSC1_000118 2/13006 2/8600 0/4406
?/? c.915G>C r.(=) p.(=) g.135786954C>G Copied from the Exome Variant Server TSC1_000117 9/13006 0/8600 9/4406
?/? c.941C>T r.(?) p.(Thr314Met) g.135786928G>A Copied from the Exome Variant Server TSC1_000116 1/13006 1/8600 0/4406
?/? c.942G>A r.(=) p.(=) g.135786927C>T Copied from the Exome Variant Server TSC1_000115 1/13006 0/8600 1/4406
?/? c.947G>A r.(?) p.(Arg316Gln) g.135786922C>T Copied from the Exome Variant Server TSC1_000114 1/13006 1/8600 0/4406
?/? c.965T>C r.(?) p.(Met322Thr) g.135786904A>G Copied from the Exome Variant Server TSC1_000113 2152/13006 1185/8600 967/4406
?/? c.1001C>T r.(?) p.(Ser334Leu) g.135786868G>A Copied from the Exome Variant Server TSC1_000112 4/13006 4/8600 0/4406
?/? c.1006C>T r.(?) p.(Arg336Trp) g.135786863G>A Copied from the Exome Variant Server TSC1_000111 3/13006 0/8600 3/4406
?/? c.1029+27C>G r.(=) p.(=) g.135786813G>C Copied from the Exome Variant Server TSC1_000110 1/13006 0/8600 1/4406
?/? c.1030-43A>C r.(=) p.(=) g.135786543T>G Copied from the Exome Variant Server TSC1_000109 1/13006 0/8600 1/4406
?/? c.1050T>C r.(=) p.(=) g.135786480A>G Copied from the Exome Variant Server TSC1_000108 1/13006 1/8600 0/4406
?/? c.1079C>A r.(?) p.(Thr360Asn) g.135786451G>T Copied from the Exome Variant Server TSC1_000107 6/13006 6/8600 0/4406
?/? c.1110A>T r.(=) p.(=) g.135786420T>A Copied from the Exome Variant Server TSC1_000106 2/13006 1/8600 1/4406
?/? c.1142-48C>T r.(=) p.(=) g.135786127G>A Copied from the Exome Variant Server TSC1_000105 1/13006 0/8600 1/4406
?/? c.1142-33A>G r.(=) p.(=) g.135786112T>C Copied from the Exome Variant Server TSC1_000104 2145/13006 1183/8600 962/4406
?/? c.1142-22_1142-21del r.(=) p.(=) g.135786100_135786101del Copied from the Exome Variant Server TSC1_000103 65/12514 3/8252 62/4262
?/? c.1144G>A r.(?) p.(Gly382Ser) g.135786077C>T Copied from the Exome Variant Server TSC1_000102 1/13006 0/8600 1/4406
?/? c.1163T>C r.(?) p.(Leu388Pro) g.135786058A>G Copied from the Exome Variant Server TSC1_000101 1/13006 0/8600 1/4406
?/? c.1178C>T r.(?) p.(Thr393Ile) g.135786043G>A Copied from the Exome Variant Server TSC1_000100 1/13006 1/8600 0/4406
?/? c.1191A>G r.(=) p.(=) g.135786030T>C Copied from the Exome Variant Server TSC1_000099 1/13006 0/8600 1/4406
?/? c.1208C>T r.(?) p.(Ser403Leu) g.135786013G>A Copied from the Exome Variant Server TSC1_000098 8/13006 6/8600 2/4406
?/? c.1209G>A r.(=) p.(=) g.135786012C>T Copied from the Exome Variant Server TSC1_000097 2/13006 1/8600 1/4406
?/? c.1218C>T r.(=) p.(=) g.135786003G>A Copied from the Exome Variant Server TSC1_000096 1/13006 0/8600 1/4406
?/? c.1257C>G r.(=) p.(=) g.135785964G>C Copied from the Exome Variant Server TSC1_000095 1/13006 1/8600 0/4406
?/? c.1263+28C>T r.(=) p.(=) g.135785930G>A Copied from the Exome Variant Server TSC1_000094 1/13006 1/8600 0/4406
?/? c.1263+34A>T r.(=) p.(=) g.135785924T>A Copied from the Exome Variant Server TSC1_000093 1/13006 0/8600 1/4406
?/? c.1264-40A>G r.(=) p.(=) g.135782797T>C Copied from the Exome Variant Server TSC1_000092 2/13006 2/8600 0/4406
?/? c.1264-6T>C r.(=) p.(=) g.135782763A>G Copied from the Exome Variant Server TSC1_000091 1/13006 0/8600 1/4406
?/? c.1333+5A>G r.spl? p.? g.135782683T>C Copied from the Exome Variant Server TSC1_000090 3/13006 2/8600 1/4406
?/? c.1333+14G>A r.(=) p.(=) g.135782674C>T Copied from the Exome Variant Server TSC1_000088 5/13006 0/8600 5/4406
?/? c.1333+25C>T r.(=) p.(=) g.135782663G>A Copied from the Exome Variant Server TSC1_000086 1/13006 1/8600 0/4406
?/? c.1334-21G>A r.(=) p.(=) g.135782243C>T Copied from the Exome Variant Server TSC1_000084 1/13006 1/8600 0/4406
?/? c.1334-16C>T r.(=) p.(=) g.135782238G>A Copied from the Exome Variant Server TSC1_000081 2/13006 0/8600 2/4406
?/? c.1335A>G r.(=) p.(=) g.135782221T>C Copied from the Exome Variant Server TSC1_000080 2223/13006 1258/8600 965/4406
?/? c.1342C>T r.(?) p.(Pro448Ser) g.135782214G>A Copied from the Exome Variant Server TSC1_000089 50/13006 0/8600 50/4406
?/? c.1355G>C r.(?) p.(Gly452Ala) g.135782201C>G Copied from the Exome Variant Server TSC1_000087 1/13006 0/8600 1/4406
?/? c.1438+6G>A r.(=) p.(=) g.135782112C>T Copied from the Exome Variant Server TSC1_000085 1/13006 1/8600 0/4406
?/? c.1438+35C>G r.(=) p.(=) g.135782083G>C Copied from the Exome Variant Server TSC1_000083 1/13006 0/8600 1/4406
?/? c.1439-37C>T r.(=) p.(=) g.135781563G>A Copied from the Exome Variant Server TSC1_000082 1959/12552 1099/8328 860/4224
?/? c.1439-21del r.(=) p.(=) g.135781547del Copied from the Exome Variant Server TSC1_000079 5/12230 4/8078 1/4152
?/? c.1460C>G r.(?) p.(Ser487Cys) g.135781505G>C Copied from the Exome Variant Server TSC1_000078 2/12994 2/8590 0/4404
?/? c.1526G>A r.(?) p.(Arg509Gln) g.135781439C>T Copied from the Exome Variant Server TSC1_000077 11/13006 0/8600 11/4406
?/? c.1550G>A r.(?) p.(Arg517Gln) g.135781415C>T Copied from the Exome Variant Server TSC1_000076 1/13006 0/8600 1/4406
?/? c.1584C>T r.(=) p.(=) g.135781381G>A Copied from the Exome Variant Server TSC1_000075 1/13006 1/8600 0/4406
?/? c.1589G>C r.(?) p.(Ser530Thr) g.135781376C>G Copied from the Exome Variant Server TSC1_000074 2/13006 2/8600 0/4406
?/? c.1591G>A r.(?) p.(Val531Met) g.135781374C>T Copied from the Exome Variant Server TSC1_000073 1/13006 1/8600 0/4406
?/? c.1635T>C r.(=) p.(=) g.135781330A>G Copied from the Exome Variant Server TSC1_000072 1/13006 0/8600 1/4406
?/? c.1677C>T r.(=) p.(=) g.135781288G>A Copied from the Exome Variant Server TSC1_000071 2/13006 0/8600 2/4406
?/? c.1685C>G r.(?) p.(Ala562Gly) g.135781280G>C Copied from the Exome Variant Server TSC1_000070 1/13006 1/8600 0/4406
?/? c.1701G>A r.(=) p.(=) g.135781264C>T Copied from the Exome Variant Server TSC1_000069 24/13006 0/8600 24/4406
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