All transcript variants in gene TMTC1

Information The variants shown are described using the NM_001193451.1 transcript reference sequence.

157 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.303-22del r.(=) p.(=) g.29921030del Copied from the Exome Variant Server TMTC1_000157 159/12508 142/8250 17/4258
?/? c.303-14_303-10del r.(=) p.(=) g.29921018_29921022del Copied from the Exome Variant Server TMTC1_000156 19/12508 16/8250 3/4258
?/? c.323G>A r.(?) p.(Gly108Asp) g.29920988C>T Copied from the Exome Variant Server TMTC1_000155 1/13006 1/8600 0/4406
?/? c.350T>G r.(?) p.(Val117Gly) g.29920961A>C Copied from the Exome Variant Server TMTC1_000154 6/13006 0/8600 6/4406
?/? c.366C>T r.(=) p.(=) g.29920945G>A Copied from the Exome Variant Server TMTC1_000153 288/13006 6/8600 282/4406
?/? c.393C>T r.(=) p.(=) g.29920918G>A Copied from the Exome Variant Server TMTC1_000152 1/13006 1/8600 0/4406
?/? c.419A>G r.(?) p.(Asn140Ser) g.29920892T>C Copied from the Exome Variant Server TMTC1_000151 1/13006 1/8600 0/4406
?/? c.441G>C r.(=) p.(=) g.29920870C>G Copied from the Exome Variant Server TMTC1_000150 62/13006 56/8600 6/4406
?/? c.450T>C r.(=) p.(=) g.29920861A>G Copied from the Exome Variant Server TMTC1_000149 1/13006 0/8600 1/4406
?/? c.457G>C r.(?) p.(Val153Leu) g.29920854C>G Copied from the Exome Variant Server TMTC1_000148 1/13006 1/8600 0/4406
?/? c.480+31G>A r.(=) p.(=) g.29920800C>T Copied from the Exome Variant Server TMTC1_000147 1/13006 0/8600 1/4406
?/? c.480+40_480+41insATGT r.(=) p.(=) g.29920790_29920791insACAT Copied from the Exome Variant Server TMTC1_000146 4649/12518 3367/8254 1282/4264
?/? c.481-51T>C r.(=) p.(=) g.29911761A>G Copied from the Exome Variant Server TMTC1_000145 2/13006 2/8600 0/4406
?/? c.493G>A r.(?) p.(Val165Ile) g.29911698C>T Copied from the Exome Variant Server TMTC1_000144 1/13006 0/8600 1/4406
?/? c.507C>T r.(=) p.(=) g.29911684G>A Copied from the Exome Variant Server TMTC1_000143 9/13006 9/8600 0/4406
?/? c.508G>A r.(?) p.(Val170Met) g.29911683C>T Copied from the Exome Variant Server TMTC1_000142 3/13006 0/8600 3/4406
?/? c.545C>T r.(?) p.(Ser182Leu) g.29911646G>A Copied from the Exome Variant Server TMTC1_000140 1/13006 1/8600 0/4406
?/? c.546G>A r.(=) p.(=) g.29911645C>T Copied from the Exome Variant Server TMTC1_000138 3/13006 0/8600 3/4406
?/? c.554+29G>A r.(=) p.(=) g.29911608C>T Copied from the Exome Variant Server TMTC1_000136 1/13006 1/8600 0/4406
?/? c.554+35G>A r.(=) p.(=) g.29911602C>T Copied from the Exome Variant Server TMTC1_000134 1/13006 1/8600 0/4406
?/? c.554+38A>G r.(=) p.(=) g.29911599T>C Copied from the Exome Variant Server TMTC1_000132 196/13006 1/8600 195/4406
?/? c.554+46G>A r.(=) p.(=) g.29911591C>T Copied from the Exome Variant Server TMTC1_000130 2/13006 1/8600 1/4406
?/? c.555-11T>G r.(=) p.(=) g.29908829A>C Copied from the Exome Variant Server TMTC1_000141 1/13006 1/8600 0/4406
?/? c.560T>G r.(?) p.(Leu187Arg) g.29908813A>C Copied from the Exome Variant Server TMTC1_000139 1/13006 1/8600 0/4406
?/? c.589C>G r.(?) p.(Pro197Ala) g.29908784G>C Copied from the Exome Variant Server TMTC1_000137 1/13006 0/8600 1/4406
?/? c.597G>A r.(=) p.(=) g.29908776C>T Copied from the Exome Variant Server TMTC1_000135 6/13006 5/8600 1/4406
?/? c.645G>A r.(=) p.(=) g.29908728C>T Copied from the Exome Variant Server TMTC1_000133 1/13006 0/8600 1/4406
?/? c.652G>A r.(?) p.(Val218Met) g.29908721C>T Copied from the Exome Variant Server TMTC1_000131 1/13006 0/8600 1/4406
?/? c.671C>T r.(?) p.(Thr224Met) g.29908702G>A Copied from the Exome Variant Server TMTC1_000129 1/13006 1/8600 0/4406
?/? c.731C>T r.(?) p.(Ser244Leu) g.29908642G>A Copied from the Exome Variant Server TMTC1_000128 1/13006 1/8600 0/4406
?/? c.731+26C>A r.(=) p.(=) g.29908616G>T Copied from the Exome Variant Server TMTC1_000127 1/13006 0/8600 1/4406
?/? c.731+44C>A r.(=) p.(=) g.29908598G>T Copied from the Exome Variant Server TMTC1_000126 3/13006 0/8600 3/4406
?/? c.746T>G r.(?) p.(Leu249Arg) g.29904791A>C Copied from the Exome Variant Server TMTC1_000125 96/12980 89/8582 7/4398
?/? c.754C>A r.(?) p.(Arg252Ser) g.29904783G>T Copied from the Exome Variant Server TMTC1_000124 1/12986 1/8590 0/4396
?/? c.758G>A r.(?) p.(Ser253Asn) g.29904779C>T Copied from the Exome Variant Server TMTC1_000123 1/12994 0/8594 1/4400
?/? c.771C>T r.(=) p.(=) g.29904766G>A Copied from the Exome Variant Server TMTC1_000122 3/13000 3/8598 0/4402
?/? c.772G>A r.(?) p.(Gly258Arg) g.29904765C>T Copied from the Exome Variant Server TMTC1_000121 1/13000 1/8598 0/4402
?/? c.811C>T r.(?) p.(Arg271Trp) g.29904726G>A Copied from the Exome Variant Server TMTC1_000120 3/13006 1/8600 2/4406
?/? c.833G>A r.(?) p.(Arg278Gln) g.29904704C>T Copied from the Exome Variant Server TMTC1_000119 7/13006 5/8600 2/4406
?/? c.867C>G r.(?) p.(His289Gln) g.29904670G>C Copied from the Exome Variant Server TMTC1_000118 2/13006 0/8600 2/4406
?/? c.891G>A r.(=) p.(=) g.29904646C>T Copied from the Exome Variant Server TMTC1_000117 1/13006 1/8600 0/4406
?/? c.895A>C r.(?) p.(Ser299Arg) g.29904642T>G Copied from the Exome Variant Server TMTC1_000116 1/13006 0/8600 1/4406
?/? c.916C>A r.(=) p.(=) g.29904621G>T Copied from the Exome Variant Server TMTC1_000115 12/13006 0/8600 12/4406
?/? c.928T>C r.(?) p.(Ser310Pro) g.29904609A>G Copied from the Exome Variant Server TMTC1_000114 2/13006 2/8600 0/4406
?/? c.938+23C>G r.(=) p.(=) g.29904576G>C Copied from the Exome Variant Server TMTC1_000113 1/13006 0/8600 1/4406
?/? c.938+38A>G r.(=) p.(=) g.29904561T>C Copied from the Exome Variant Server TMTC1_000112 3/13006 1/8600 2/4406
?/? c.938+41T>A r.(=) p.(=) g.29904558A>T Copied from the Exome Variant Server TMTC1_000111 3/13006 1/8600 2/4406
?/? c.949T>C r.(?) p.(Tyr317His) g.29786259A>G Copied from the Exome Variant Server TMTC1_000110 1/13006 1/8600 0/4406
?/? c.953C>T r.(?) p.(Ser318Phe) g.29786255G>A Copied from the Exome Variant Server TMTC1_000109 1/13006 1/8600 0/4406
?/? c.984G>T r.(=) p.(=) g.29786224C>A Copied from the Exome Variant Server TMTC1_000108 1/13006 0/8600 1/4406
?/? c.1021G>A r.(?) p.(Gly341Ser) g.29786187C>T Copied from the Exome Variant Server TMTC1_000107 2/13006 2/8600 0/4406
?/? c.1058G>A r.(?) p.(Arg353Gln) g.29786150C>T Copied from the Exome Variant Server TMTC1_000106 1/13006 0/8600 1/4406
?/? c.1082C>T r.(?) p.(Ala361Val) g.29786126G>A Copied from the Exome Variant Server TMTC1_000105 46/13006 43/8600 3/4406
?/? c.1110C>A r.(?) p.(His370Gln) g.29786098G>T Copied from the Exome Variant Server TMTC1_000104 1/13006 0/8600 1/4406
?/? c.1128+51A>G r.(=) p.(=) g.29786029T>C Copied from the Exome Variant Server TMTC1_000103 17/13006 2/8600 15/4406
?/? c.1129-29A>C r.(=) p.(=) g.29757261T>G Copied from the Exome Variant Server TMTC1_000102 82/13006 0/8600 82/4406
?/? c.1129-12T>C r.(=) p.(=) g.29757244A>G Copied from the Exome Variant Server TMTC1_000101 1/13006 0/8600 1/4406
?/? c.1146G>A r.(=) p.(=) g.29757215C>T Copied from the Exome Variant Server TMTC1_000100 10/13006 0/8600 10/4406
?/? c.1174T>C r.(?) p.(Phe392Leu) g.29757187A>G Copied from the Exome Variant Server TMTC1_000099 1/13006 0/8600 1/4406
?/? c.1179G>A r.(=) p.(=) g.29757182C>T Copied from the Exome Variant Server TMTC1_000098 1/13006 0/8600 1/4406
?/? c.1186C>G r.(?) p.(Pro396Ala) g.29757175G>C Copied from the Exome Variant Server TMTC1_000097 1/13006 1/8600 0/4406
?/? c.1226C>T r.(?) p.(Ala409Val) g.29757135G>A Copied from the Exome Variant Server TMTC1_000096 2/13006 2/8600 0/4406
?/? c.1227G>A r.(=) p.(=) g.29757134C>T Copied from the Exome Variant Server TMTC1_000095 230/13006 49/8600 181/4406
?/? c.1250+14G>C r.(=) p.(=) g.29757097C>G Copied from the Exome Variant Server TMTC1_000094 3/13006 3/8600 0/4406
?/? c.1250+33C>T r.(=) p.(=) g.29757078G>A Copied from the Exome Variant Server TMTC1_000093 1/13006 1/8600 0/4406
?/? c.1250+51C>T r.(=) p.(=) g.29757060G>A Copied from the Exome Variant Server TMTC1_000092 2/13006 2/8600 0/4406
?/? c.1251-51G>T r.(=) p.(=) g.29736558C>A Copied from the Exome Variant Server TMTC1_000091 1/13006 1/8600 0/4406
?/? c.1251-46T>C r.(=) p.(=) g.29736553A>G Copied from the Exome Variant Server TMTC1_000090 4043/13006 2043/8600 2000/4406
?/? c.1251-36C>T r.(=) p.(=) g.29736543G>A Copied from the Exome Variant Server TMTC1_000089 1/13006 0/8600 1/4406
?/? c.1251-23G>A r.(=) p.(=) g.29736530C>T Copied from the Exome Variant Server TMTC1_000088 155/13006 142/8600 13/4406
?/? c.1251-16C>A r.(=) p.(=) g.29736523G>T Copied from the Exome Variant Server TMTC1_000087 3412/13006 2051/8600 1361/4406
?/? c.1255G>A r.(?) p.(Gly419Ser) g.29736503C>T Copied from the Exome Variant Server TMTC1_000086 1/13006 1/8600 0/4406
?/? c.1278T>C r.(=) p.(=) g.29736480A>G Copied from the Exome Variant Server TMTC1_000085 4068/13006 2060/8600 2008/4406
?/? c.1311A>T r.(=) p.(=) g.29736447T>A Copied from the Exome Variant Server TMTC1_000084 1/13006 0/8600 1/4406
?/? c.1353G>C r.(=) p.(=) g.29736405C>G Copied from the Exome Variant Server TMTC1_000083 4/13006 4/8600 0/4406
?/? c.1388A>G r.(?) p.(Glu463Gly) g.29736370T>C Copied from the Exome Variant Server TMTC1_000082 2/13006 0/8600 2/4406
?/? c.1418+9A>G r.(=) p.(=) g.29736331T>C Copied from the Exome Variant Server TMTC1_000081 150/13006 1/8600 149/4406
?/? c.1418+21A>G r.(=) p.(=) g.29736319T>C Copied from the Exome Variant Server TMTC1_000080 2/13006 2/8600 0/4406
?/? c.1418+32C>A r.(=) p.(=) g.29736308G>T Copied from the Exome Variant Server TMTC1_000079 1/13004 1/8598 0/4406
?/? c.1419-51A>T r.(=) p.(=) g.29725202T>A Copied from the Exome Variant Server TMTC1_000078 1/12980 0/8590 1/4390
?/? c.1419-36del r.(=) p.(=) g.29725187del Copied from the Exome Variant Server TMTC1_000077 4/12508 3/8252 1/4256
?/? c.1419-21T>C r.(=) p.(=) g.29725172A>G Copied from the Exome Variant Server TMTC1_000076 43/13006 6/8600 37/4406
?/? c.1474T>A r.(?) p.(Phe492Ile) g.29725096A>T Copied from the Exome Variant Server TMTC1_000075 9/13006 0/8600 9/4406
?/? c.1487A>G r.(?) p.(Gln496Arg) g.29725083T>C Copied from the Exome Variant Server TMTC1_000074 2/13006 0/8600 2/4406
?/? c.1519_1520insA r.(?) p.(Arg507Lysfs*42) g.29725050_29725051insT Copied from the Exome Variant Server TMTC1_000073 1/12518 0/8254 1/4264
?/? c.1532+8C>A r.(=) p.(=) g.29725030G>T Copied from the Exome Variant Server TMTC1_000072 1/13006 1/8600 0/4406
?/? c.1532+12A>G r.(=) p.(=) g.29725026T>C Copied from the Exome Variant Server TMTC1_000071 2/13006 2/8600 0/4406
?/? c.1532+41_1532+46del r.(=) p.(=) g.29724992_29724997del Copied from the Exome Variant Server TMTC1_000070 1/12518 1/8254 0/4264
?/? c.1533-17T>G r.(=) p.(=) g.29709950A>C Copied from the Exome Variant Server TMTC1_000069 1/13006 1/8600 0/4406
?/? c.1533-9A>G r.(=) p.(=) g.29709942T>C Copied from the Exome Variant Server TMTC1_000068 1/13006 0/8600 1/4406
?/? c.1543C>T r.(?) p.(Arg515Cys) g.29709923G>A Copied from the Exome Variant Server TMTC1_000067 1/13006 0/8600 1/4406
?/? c.1544G>A r.(?) p.(Arg515His) g.29709922C>T Copied from the Exome Variant Server TMTC1_000066 15/13006 9/8600 6/4406
?/? c.1557G>T r.(=) p.(=) g.29709909C>A Copied from the Exome Variant Server TMTC1_000065 1/13006 0/8600 1/4406
?/? c.1569T>C r.(=) p.(=) g.29709897A>G Copied from the Exome Variant Server TMTC1_000064 8/13006 0/8600 8/4406
?/? c.1589C>T r.(?) p.(Thr530Ile) g.29709877G>A Copied from the Exome Variant Server TMTC1_000063 1/13006 0/8600 1/4406
?/? c.1616G>A r.(?) p.(Arg539Lys) g.29709850C>T Copied from the Exome Variant Server TMTC1_000062 1/13006 1/8600 0/4406
?/? c.1651C>T r.(?) p.(Leu551Phe) g.29709815G>A Copied from the Exome Variant Server TMTC1_000061 1/13006 1/8600 0/4406
?/? c.1676+12G>A r.(=) p.(=) g.29709778C>T Copied from the Exome Variant Server TMTC1_000060 1/13006 1/8600 0/4406
?/? c.1676+19A>G r.(=) p.(=) g.29709771T>C Copied from the Exome Variant Server TMTC1_000059 3/13006 0/8600 3/4406
?/? c.1676+37C>T r.(=) p.(=) g.29709753G>A Copied from the Exome Variant Server TMTC1_000058 2/13006 2/8600 0/4406
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