Unique variants in gene LCTL

Information The variants shown are described using the NM_207338.2 transcript reference sequence.

147 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.-37G>C r.(=) p.(=) g.66857740C>G Copied from the Exome Variant Server LCTL_000143 52/12996 0/8596 52/4400
1 c.-18G>T r.(=) p.(=) g.66857721C>A Copied from the Exome Variant Server LCTL_000142 1/12998 1/8596 0/4402
1 c.7C>T r.(?) p.(Pro3Ser) g.66857697G>A Copied from the Exome Variant Server LCTL_000141 1/13000 1/8598 0/4402
1 c.18C>T r.(=) p.(=) g.66857686G>A Copied from the Exome Variant Server LCTL_000140 1/13000 0/8598 1/4402
1 c.63C>T r.(=) p.(=) g.66857641G>A Copied from the Exome Variant Server LCTL_000139 1/12998 0/8598 1/4400
1 c.64G>A r.(?) p.(Ala22Thr) g.66857640C>T Copied from the Exome Variant Server LCTL_000138 1/12998 0/8598 1/4400
1 c.68G>A r.(?) p.(Arg23Gln) g.66857636C>T Copied from the Exome Variant Server LCTL_000137 2/13000 0/8598 2/4402
1 c.73G>A r.(?) p.(Gly25Arg) g.66857631C>T Copied from the Exome Variant Server LCTL_000136 1/13000 1/8598 0/4402
1 c.75G>A r.(=) p.(=) g.66857629C>T Copied from the Exome Variant Server LCTL_000135 3/13000 0/8598 3/4402
1 c.89C>A r.(?) p.(Ala30Asp) g.66857615G>T Copied from the Exome Variant Server LCTL_000134 1/13000 0/8598 1/4402
1 c.90C>A r.(=) p.(=) g.66857614G>T Copied from the Exome Variant Server LCTL_000133 85/13000 1/8598 84/4402
1 c.91T>C r.(?) p.(Ser31Pro) g.66857613A>G Copied from the Exome Variant Server LCTL_000132 34/13000 27/8598 7/4402
1 c.92C>G r.(?) p.(Ser31Cys) g.66857612G>C Copied from the Exome Variant Server LCTL_000131 7/13000 0/8598 7/4402
1 c.118+4C>T r.spl? p.? g.66857582G>A Copied from the Exome Variant Server LCTL_000130 1/13000 0/8598 1/4402
1 c.118+11G>A r.(=) p.(=) g.66857575C>T Copied from the Exome Variant Server LCTL_000129 1/13000 1/8598 0/4402
1 c.118+20C>T r.(=) p.(=) g.66857566G>A Copied from the Exome Variant Server LCTL_000128 9/13000 6/8598 3/4402
1 c.118+40G>A r.(=) p.(=) g.66857546C>T Copied from the Exome Variant Server LCTL_000127 1/13000 0/8598 1/4402
1 c.119-7C>T r.(=) p.(=) g.66857184G>A Copied from the Exome Variant Server LCTL_000126 1/13000 0/8598 1/4402
1 c.132C>T r.(=) p.(=) g.66857164G>A Copied from the Exome Variant Server LCTL_000125 3/13000 2/8598 1/4402
1 c.133G>A r.(?) p.(Val45Met) g.66857163C>T Copied from the Exome Variant Server LCTL_000124 1/13000 0/8598 1/4402
1 c.155C>T r.(?) p.(Thr52Met) g.66857141G>A Copied from the Exome Variant Server LCTL_000123 62/13000 57/8598 5/4402
1 c.162C>T r.(=) p.(=) g.66857134G>A Copied from the Exome Variant Server LCTL_000122 1/13000 1/8598 0/4402
1 c.178G>A r.(?) p.(Gly60Arg) g.66857118C>T Copied from the Exome Variant Server LCTL_000121 2/13000 1/8598 1/4402
1 c.180G>A r.(=) p.(=) g.66857116C>T Copied from the Exome Variant Server LCTL_000120 3/13000 0/8598 3/4402
1 c.201C>T r.(=) p.(=) g.66857095G>A Copied from the Exome Variant Server LCTL_000119 361/13000 1/8598 360/4402
1 c.246G>A r.(=) p.(=) g.66857050C>T Copied from the Exome Variant Server LCTL_000118 178/13000 8/8598 170/4402
1 c.282+9G>A r.(=) p.(=) g.66857005C>T Copied from the Exome Variant Server LCTL_000117 2/13000 1/8598 1/4402
1 c.282+16G>A r.(=) p.(=) g.66856998C>T Copied from the Exome Variant Server LCTL_000116 2/13000 2/8598 0/4402
1 c.282+31C>T r.(=) p.(=) g.66856983G>A Copied from the Exome Variant Server LCTL_000115 648/13000 350/8598 298/4402
1 c.282+34G>A r.(=) p.(=) g.66856980C>T Copied from the Exome Variant Server LCTL_000114 772/13000 124/8598 648/4402
1 c.282+36G>A r.(=) p.(=) g.66856978C>T Copied from the Exome Variant Server LCTL_000113 1/13000 1/8598 0/4402
1 c.282+38G>A r.(=) p.(=) g.66856976C>T Copied from the Exome Variant Server LCTL_000112 1/13000 1/8598 0/4402
1 c.283-52C>G r.(=) p.(=) g.66856388G>C Copied from the Exome Variant Server LCTL_000111 1/7266 1/4616 0/2650
1 c.283-45T>C r.(=) p.(=) g.66856381A>G Copied from the Exome Variant Server LCTL_000110 1/13000 1/8598 0/4402
1 c.283-32G>C r.(=) p.(=) g.66856368C>G Copied from the Exome Variant Server LCTL_000109 1/13000 1/8598 0/4402
1 c.283-15C>T r.(=) p.(=) g.66856351G>A Copied from the Exome Variant Server LCTL_000108 1/13000 1/8598 0/4402
1 c.295C>T r.(=) p.(=) g.66856324G>A Copied from the Exome Variant Server LCTL_000107 1/13000 0/8598 1/4402
1 c.308T>C r.(?) p.(Leu103Pro) g.66856311A>G Copied from the Exome Variant Server LCTL_000106 2/13000 2/8598 0/4402
1 c.313G>A r.(?) p.(Val105Ile) g.66856306C>T Copied from the Exome Variant Server LCTL_000105 2/13000 2/8598 0/4402
1 c.325C>T r.(?) p.(Arg109*) g.66856294G>A Copied from the Exome Variant Server LCTL_000104 1/13000 1/8598 0/4402
1 c.356C>A r.(?) p.(Pro119His) g.66856263G>T Copied from the Exome Variant Server LCTL_000103 2/13000 0/8598 2/4402
1 c.368G>A r.(?) p.(Arg123Gln) g.66856251C>T Copied from the Exome Variant Server LCTL_000102 1/13000 1/8598 0/4402
1 c.370+10G>A r.(=) p.(=) g.66856239C>T Copied from the Exome Variant Server LCTL_000101 1/13000 0/8598 1/4402
1 c.370+14G>T r.(=) p.(=) g.66856235C>A Copied from the Exome Variant Server LCTL_000100 1/13000 0/8598 1/4402
1 c.370+18C>T r.(=) p.(=) g.66856231G>A Copied from the Exome Variant Server LCTL_000099 67/13000 0/8598 67/4402
1 c.370+22del r.(=) p.(=) g.66856227del Copied from the Exome Variant Server LCTL_000098 15/12518 7/8254 8/4264
1 c.370+38C>A r.(=) p.(=) g.66856211G>T Copied from the Exome Variant Server LCTL_000097 3/13000 0/8598 3/4402
1 c.370+44C>T r.(=) p.(=) g.66856205G>A Copied from the Exome Variant Server LCTL_000096 112/13000 102/8598 10/4402
1 c.370+45G>A r.(=) p.(=) g.66856204C>T Copied from the Exome Variant Server LCTL_000095 13/13000 0/8598 13/4402
1 c.370+49A>G r.(=) p.(=) g.66856200T>C Copied from the Exome Variant Server LCTL_000094 2/13000 0/8598 2/4402
1 c.371-42C>T r.(=) p.(=) g.66856005G>A Copied from the Exome Variant Server LCTL_000093 1/13000 0/8598 1/4402
1 c.371-41G>A r.(=) p.(=) g.66856004C>T Copied from the Exome Variant Server LCTL_000092 3/13000 0/8598 3/4402
1 c.372C>T r.(=) p.(=) g.66855962G>A Copied from the Exome Variant Server LCTL_000091 1/13000 1/8598 0/4402
1 c.374A>T r.(?) p.(Glu125Val) g.66855960T>A Copied from the Exome Variant Server LCTL_000090 1/13000 0/8598 1/4402
1 c.386A>C r.(?) p.(Lys129Thr) g.66855948T>G Copied from the Exome Variant Server LCTL_000089 23/13000 0/8598 23/4402
1 c.389A>C r.(?) p.(Lys130Thr) g.66855945T>G Copied from the Exome Variant Server LCTL_000088 1/13000 0/8598 1/4402
1 c.390G>A r.(=) p.(=) g.66855944C>T Copied from the Exome Variant Server LCTL_000087 2/13000 1/8598 1/4402
1 c.409G>A r.(?) p.(Asp137Asn) g.66855925C>T Copied from the Exome Variant Server LCTL_000086 1/13000 1/8598 0/4402
1 c.451G>A r.(?) p.(Val151Met) g.66855883C>T Copied from the Exome Variant Server LCTL_000085 4/13000 3/8598 1/4402
1 c.465C>G r.(?) p.(His155Gln) g.66855869G>C Copied from the Exome Variant Server LCTL_000084 1/13000 1/8598 0/4402
1 c.478C>A r.(?) p.(Gln160Lys) g.66855856G>T Copied from the Exome Variant Server LCTL_000083 3/13000 3/8598 0/4402
1 c.480G>T r.(?) p.(Gln160His) g.66855854C>A Copied from the Exome Variant Server LCTL_000082 2/13000 0/8598 2/4402
1 c.480+22C>T r.(=) p.(=) g.66855832G>A Copied from the Exome Variant Server LCTL_000081 1/13000 1/8598 0/4402
1 c.480+35G>A r.(=) p.(=) g.66855819C>T Copied from the Exome Variant Server LCTL_000080 5/13000 5/8598 0/4402
1 c.480+37C>T r.(=) p.(=) g.66855817G>A Copied from the Exome Variant Server LCTL_000079 1/13000 1/8598 0/4402
1 c.481-46C>T r.(=) p.(=) g.66853699G>A Copied from the Exome Variant Server LCTL_000078 7/13000 0/8598 7/4402
1 c.481-39C>T r.(=) p.(=) g.66853692G>A Copied from the Exome Variant Server LCTL_000077 9/13000 0/8598 9/4402
1 c.481-30C>T r.(=) p.(=) g.66853683G>A Copied from the Exome Variant Server LCTL_000076 56/13000 0/8598 56/4402
1 c.492C>A r.(=) p.(=) g.66853642G>T Copied from the Exome Variant Server LCTL_000075 1/13000 1/8598 0/4402
1 c.498C>T r.(=) p.(=) g.66853636G>A Copied from the Exome Variant Server LCTL_000074 1/13000 0/8598 1/4402
1 c.499G>A r.(?) p.(Gly167Ser) g.66853635C>T Copied from the Exome Variant Server LCTL_000072 3/13000 3/8598 0/4402
1 c.513T>C r.(=) p.(=) g.66853621A>G Copied from the Exome Variant Server LCTL_000070 1/13000 1/8598 0/4402
1 c.543C>T r.(=) p.(=) g.66853591G>A Copied from the Exome Variant Server LCTL_000068 20/13000 14/8598 6/4402
1 c.594G>A r.(=) p.(=) g.66853540C>T Copied from the Exome Variant Server LCTL_000066 4/13000 4/8598 0/4402
1 c.607C>T r.(?) p.(Arg203Trp) g.66853527G>A Copied from the Exome Variant Server LCTL_000064 2/13000 2/8598 0/4402
1 c.609+27A>C r.(=) p.(=) g.66853498T>G Copied from the Exome Variant Server LCTL_000062 1/13000 1/8598 0/4402
1 c.610-27C>G r.(=) p.(=) g.66853466G>C Copied from the Exome Variant Server LCTL_000060 1/13000 1/8598 0/4402
1 c.610-26T>C r.(=) p.(=) g.66853465A>G Copied from the Exome Variant Server LCTL_000058 1/13000 1/8598 0/4402
1 c.610-3T>C r.spl? p.? g.66853442A>G Copied from the Exome Variant Server LCTL_000056 1/13000 1/8598 0/4402
1 c.614T>C r.(?) p.(Met205Thr) g.66853435A>G Copied from the Exome Variant Server LCTL_000054 1/13000 0/8598 1/4402
1 c.635C>T r.(?) p.(Thr212Met) g.66853414G>A Copied from the Exome Variant Server LCTL_000052 81/13000 6/8598 75/4402
1 c.650C>T r.(?) p.(Pro217Leu) g.66853399G>A Copied from the Exome Variant Server LCTL_000050 1/13000 0/8598 1/4402
1 c.651G>A r.(=) p.(=) g.66853398C>T Copied from the Exome Variant Server LCTL_000047 2/13000 2/8598 0/4402
1 c.664C>T r.(?) p.(Arg222Cys) g.66853385G>A Copied from the Exome Variant Server LCTL_000044 1/13000 1/8598 0/4402
1 c.667G>C r.(?) p.(Gly223Arg) g.66853382C>G Copied from the Exome Variant Server LCTL_000041 4/13000 0/8598 4/4402
1 c.702T>C r.(=) p.(=) g.66853347A>G Copied from the Exome Variant Server LCTL_000073 1/13000 1/8598 0/4402
1 c.705+5G>A r.spl? p.? g.66853339C>T Copied from the Exome Variant Server LCTL_000071 623/13000 351/8598 272/4402
1 c.705+11T>A r.(=) p.(=) g.66853333A>T Copied from the Exome Variant Server LCTL_000069 1/13000 1/8598 0/4402
1 c.705+15_705+17del r.(=) p.(=) g.66853327_66853329del Copied from the Exome Variant Server LCTL_000067 3/12518 0/8254 3/4264
1 c.705+39T>G r.(=) p.(=) g.66853305A>C Copied from the Exome Variant Server LCTL_000065 1/13000 0/8598 1/4402
1 c.706-52G>C r.(=) p.(=) g.66850426C>G Copied from the Exome Variant Server LCTL_000063 12/7266 0/4616 12/2650
1 c.706-41A>G r.(=) p.(=) g.66850415T>C Copied from the Exome Variant Server LCTL_000061 1/13000 0/8598 1/4402
1 c.706-25C>T r.(=) p.(=) g.66850399G>A Copied from the Exome Variant Server LCTL_000059 4/13000 0/8598 4/4402
1 c.706-7C>T r.(=) p.(=) g.66850381G>A Copied from the Exome Variant Server LCTL_000057 1/13000 1/8598 0/4402
1 c.711C>T r.(=) p.(=) g.66850369G>A Copied from the Exome Variant Server LCTL_000055 1/13000 0/8598 1/4402
1 c.718G>A r.(?) p.(Ala240Thr) g.66850362C>T Copied from the Exome Variant Server LCTL_000053 238/13000 116/8598 122/4402
1 c.740C>T r.(?) p.(Thr247Met) g.66850340G>A Copied from the Exome Variant Server LCTL_000051 3/13000 2/8598 1/4402
1 c.745C>T r.(?) p.(Arg249Cys) g.66850335G>A Copied from the Exome Variant Server LCTL_000049 1/13000 1/8598 0/4402
1 c.760+21T>A r.(=) p.(=) g.66850299A>T Copied from the Exome Variant Server LCTL_000046 1/13000 1/8598 0/4402
1 c.760+38A>G r.(=) p.(=) g.66850282T>C Copied from the Exome Variant Server LCTL_000042 1/13000 0/8598 1/4402
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