Full data view for gene UCKL1

Information The variants shown are described using the NM_017859.3 transcript reference sequence.

162 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     

Template     

Technique     

Disease     

Reference     

Remarks     

Panel size     

Owner     
?/? c.-37C>A r.(=) p.(=) g.62587762G>T Copied from the Exome Variant Server UCKL1_000162 76/10242 70/6830 6/3412 - - - - - - -
?/? c.9G>T r.(=) p.(=) g.62587717C>A Copied from the Exome Variant Server UCKL1_000161 1/12866 1/8528 0/4338 - - - - - - -
?/? c.16G>C r.(?) p.(Ala6Pro) g.62587710C>G Copied from the Exome Variant Server UCKL1_000160 1/12898 1/8546 0/4352 - - - - - - -
?/? c.20G>A r.(?) p.(Arg7His) g.62587706C>T Copied from the Exome Variant Server UCKL1_000159 3/12910 1/8544 2/4366 - - - - - - -
?/? c.35C>T r.(?) p.(Pro12Leu) g.62587691G>A Copied from the Exome Variant Server UCKL1_000158 1/12948 1/8570 0/4378 - - - - - - -
?/? c.45G>A r.(=) p.(=) g.62587681C>T Copied from the Exome Variant Server UCKL1_000157 1/12958 1/8574 0/4384 - - - - - - -
?/? c.76C>T r.(?) p.(Arg26Trp) g.62587650G>A Copied from the Exome Variant Server UCKL1_000156 4/12954 0/8568 4/4386 - - - - - - -
?/? c.82G>A r.(?) p.(Ala28Thr) g.62587644C>T Copied from the Exome Variant Server UCKL1_000155 1/12952 0/8562 1/4390 - - - - - - -
?/? c.99C>T r.(=) p.(=) g.62587627G>A Copied from the Exome Variant Server UCKL1_000154 1/12932 0/8558 1/4374 - - - - - - -
?/? c.101C>T r.(?) p.(Ala34Val) g.62587625G>A Copied from the Exome Variant Server UCKL1_000153 3/12926 2/8556 1/4370 - - - - - - -
?/? c.114-38C>T r.(=) p.(=) g.62578034G>A Copied from the Exome Variant Server UCKL1_000152 1/12958 1/8576 0/4382 - - - - - - -
?/? c.114-21C>T r.(=) p.(=) g.62578017G>A Copied from the Exome Variant Server UCKL1_000151 17/12970 15/8584 2/4386 - - - - - - -
?/? c.114-14A>T r.(=) p.(=) g.62578010T>A Copied from the Exome Variant Server UCKL1_000150 1/12974 1/8584 0/4390 - - - - - - -
?/? c.114-9T>C r.(=) p.(=) g.62578005A>G Copied from the Exome Variant Server UCKL1_000149 165/12978 2/8584 163/4394 - - - - - - -
?/? c.152T>C r.(?) p.(Val51Ala) g.62577958A>G Copied from the Exome Variant Server UCKL1_000148 1/12990 1/8592 0/4398 - - - - - - -
?/? c.155G>C r.(?) p.(Gly52Ala) g.62577955C>G Copied from the Exome Variant Server UCKL1_000147 2/12988 2/8592 0/4396 - - - - - - -
?/? c.163C>T r.(?) p.(Arg55Cys) g.62577947G>A Copied from the Exome Variant Server UCKL1_000146 2/12992 2/8592 0/4400 - - - - - - -
?/? c.169C>T r.(?) p.(Pro57Ser) g.62577941G>A Copied from the Exome Variant Server UCKL1_000145 1/12992 1/8592 0/4400 - - - - - - -
?/? c.173G>A r.(?) p.(Arg58Gln) g.62577937C>T Copied from the Exome Variant Server UCKL1_000144 2/12992 0/8592 2/4400 - - - - - - -
?/? c.178C>T r.(?) p.(Arg60Trp) g.62577932G>A Copied from the Exome Variant Server UCKL1_000143 1/12988 1/8590 0/4398 - - - - - - -
?/? c.183C>T r.(=) p.(=) g.62577927G>A Copied from the Exome Variant Server UCKL1_000142 1/12992 1/8592 0/4400 - - - - - - -
?/? c.190C>T r.(?) p.(Gln64*) g.62577920G>A Copied from the Exome Variant Server UCKL1_000141 1/12996 1/8594 0/4402 - - - - - - -
?/? c.209C>T r.(?) p.(Pro70Leu) g.62577901G>A Copied from the Exome Variant Server UCKL1_000140 1/12992 0/8592 1/4400 - - - - - - -
?/? c.218G>A r.(?) p.(Arg73His) g.62577892C>T Copied from the Exome Variant Server UCKL1_000139 1/12998 1/8594 0/4404 - - - - - - -
?/? c.230G>A r.(?) p.(Arg77His) g.62577880C>T Copied from the Exome Variant Server UCKL1_000138 1/12996 0/8592 1/4404 - - - - - - -
?/? c.243C>T r.(=) p.(=) g.62577867G>A Copied from the Exome Variant Server UCKL1_000137 1/12996 1/8592 0/4404 - - - - - - -
?/? c.246C>T r.(=) p.(=) g.62577864G>A Copied from the Exome Variant Server UCKL1_000136 7/12990 6/8586 1/4404 - - - - - - -
?/? c.253C>T r.(?) p.(Pro85Ser) g.62577857G>A Copied from the Exome Variant Server UCKL1_000135 1/12992 1/8588 0/4404 - - - - - - -
?/? c.276C>T r.(=) p.(=) g.62577834G>A Copied from the Exome Variant Server UCKL1_000134 1/12980 0/8588 1/4392 - - - - - - -
?/? c.278C>T r.(?) p.(Thr93Met) g.62577832G>A Copied from the Exome Variant Server UCKL1_000133 1/12980 0/8588 1/4392 - - - - - - -
?/? c.297C>T r.(=) p.(=) g.62577813G>A Copied from the Exome Variant Server UCKL1_000132 5/12972 2/8588 3/4384 - - - - - - -
?/? c.304+11C>T r.(=) p.(=) g.62577795G>A Copied from the Exome Variant Server UCKL1_000131 1/12934 0/8574 1/4360 - - - - - - -
?/? c.304+12G>A r.(=) p.(=) g.62577794C>T Copied from the Exome Variant Server UCKL1_000130 1/12932 0/8570 1/4362 - - - - - - -
?/? c.304+13G>T r.(=) p.(=) g.62577793C>A Copied from the Exome Variant Server UCKL1_000129 222/12926 205/8566 17/4360 - - - - - - -
?/? c.304+14G>T r.(=) p.(=) g.62577792C>A Copied from the Exome Variant Server UCKL1_000128 1/12922 0/8566 1/4356 - - - - - - -
?/? c.304+18_304+19insG r.(=) p.(=) g.62577787_62577788insC Copied from the Exome Variant Server UCKL1_000127 54/12350 16/8178 38/4172 - - - - - - -
?/? c.304+32C>T r.(=) p.(=) g.62577774G>A Copied from the Exome Variant Server UCKL1_000126 4/12812 1/8500 3/4312 - - - - - - -
?/? c.304+37G>A r.(=) p.(=) g.62577769C>T Copied from the Exome Variant Server UCKL1_000125 3/12792 2/8500 1/4292 - - - - - - -
?/? c.304+46C>T r.(=) p.(=) g.62577760G>A Copied from the Exome Variant Server UCKL1_000124 2/12718 2/8466 0/4252 - - - - - - -
?/? c.305-47C>T r.(=) p.(=) g.62577667G>A Copied from the Exome Variant Server UCKL1_000123 1/12666 0/8394 1/4272 - - - - - - -
?/? c.305-46G>A r.(=) p.(=) g.62577666C>T Copied from the Exome Variant Server UCKL1_000122 1/12680 0/8398 1/4282 - - - - - - -
?/? c.305-38G>A r.(=) p.(=) g.62577658C>T Copied from the Exome Variant Server UCKL1_000121 1/12804 1/8478 0/4326 - - - - - - -
?/? c.312A>G r.(=) p.(=) g.62577613T>C Copied from the Exome Variant Server UCKL1_000120 1180/12924 11/8556 1169/4368 - - - - - - -
?/? c.318C>T r.(=) p.(=) g.62577607G>A Copied from the Exome Variant Server UCKL1_000119 2/12932 2/8562 0/4370 - - - - - - -
?/? c.324C>T r.(=) p.(=) g.62577601G>A Copied from the Exome Variant Server UCKL1_000118 2/12948 2/8568 0/4380 - - - - - - -
?/? c.358G>A r.(?) p.(Glu120Lys) g.62577567C>T Copied from the Exome Variant Server UCKL1_000117 1/12962 1/8574 0/4388 - - - - - - -
?/? c.372G>A r.(=) p.(=) g.62577553C>T Copied from the Exome Variant Server UCKL1_000116 5/12970 5/8578 0/4392 - - - - - - -
?/? c.393C>T r.(=) p.(=) g.62577532G>A Copied from the Exome Variant Server UCKL1_000115 1/12970 1/8578 0/4392 - - - - - - -
?/? c.400T>C r.(?) p.(Ser134Pro) g.62577525A>G Copied from the Exome Variant Server UCKL1_000114 1/12972 1/8582 0/4390 - - - - - - -
?/? c.411+11G>A r.(=) p.(=) g.62577503C>T Copied from the Exome Variant Server UCKL1_000113 1/12958 1/8576 0/4382 - - - - - - -
?/? c.411+12C>T r.(=) p.(=) g.62577502G>A Copied from the Exome Variant Server UCKL1_000112 72/12958 65/8576 7/4382 - - - - - - -
?/? c.411+23C>T r.(=) p.(=) g.62577491G>A Copied from the Exome Variant Server UCKL1_000111 1/12958 1/8576 0/4382 - - - - - - -
?/? c.411+24G>A r.(=) p.(=) g.62577490C>T Copied from the Exome Variant Server UCKL1_000110 1/12960 0/8576 1/4384 - - - - - - -
?/? c.411+27G>A r.(=) p.(=) g.62577487C>T Copied from the Exome Variant Server UCKL1_000109 2/12960 0/8574 2/4386 - - - - - - -
?/? c.412-42G>A r.(=) p.(=) g.62577370C>T Copied from the Exome Variant Server UCKL1_000108 2/12998 2/8594 0/4404 - - - - - - -
?/? c.412-29C>T r.(=) p.(=) g.62577357G>A Copied from the Exome Variant Server UCKL1_000107 3/13004 2/8598 1/4406 - - - - - - -
?/? c.433G>A r.(?) p.(Glu145Lys) g.62577307C>T Copied from the Exome Variant Server UCKL1_000106 1/13006 0/8600 1/4406 - - - - - - -
?/? c.442G>A r.(?) p.(Ala148Thr) g.62577298C>T Copied from the Exome Variant Server UCKL1_000105 4/13006 3/8600 1/4406 - - - - - - -
?/? c.470C>T r.(?) p.(Pro157Leu) g.62577270G>A Copied from the Exome Variant Server UCKL1_000104 1/13006 0/8600 1/4406 - - - - - - -
?/? c.475G>A r.(?) p.(Ala159Thr) g.62577265C>T Copied from the Exome Variant Server UCKL1_000103 1/13006 0/8600 1/4406 - - - - - - -
?/? c.531T>C r.(=) p.(=) g.62577209A>G Copied from the Exome Variant Server UCKL1_000102 8/13006 8/8600 0/4406 - - - - - - -
?/? c.552C>T r.(=) p.(=) g.62577188G>A Copied from the Exome Variant Server UCKL1_000101 1/13006 1/8600 0/4406 - - - - - - -
?/? c.555C>T r.(=) p.(=) g.62577185G>A Copied from the Exome Variant Server UCKL1_000100 5/13006 0/8600 5/4406 - - - - - - -
?/? c.561G>A r.(=) p.(=) g.62577179C>T Copied from the Exome Variant Server UCKL1_000099 34/13006 0/8600 34/4406 - - - - - - -
?/? c.569G>A r.(?) p.(Arg190Gln) g.62577171C>T Copied from the Exome Variant Server UCKL1_000098 1/13006 1/8600 0/4406 - - - - - - -
?/? c.582+26C>T r.(=) p.(=) g.62577132G>A Copied from the Exome Variant Server UCKL1_000097 1/13006 0/8600 1/4406 - - - - - - -
?/? c.582+28T>C r.(=) p.(=) g.62577130A>G Copied from the Exome Variant Server UCKL1_000096 1/13006 1/8600 0/4406 - - - - - - -
?/? c.583-37A>G r.(=) p.(=) g.62577112T>C Copied from the Exome Variant Server UCKL1_000095 1/13006 0/8600 1/4406 - - - - - - -
?/? c.583-33G>A r.(=) p.(=) g.62577108C>T Copied from the Exome Variant Server UCKL1_000094 1/13006 0/8600 1/4406 - - - - - - -
?/? c.583-25C>T r.(=) p.(=) g.62577100G>A Copied from the Exome Variant Server UCKL1_000093 21/13006 15/8600 6/4406 - - - - - - -
?/? c.583-13G>A r.(=) p.(=) g.62577088C>T Copied from the Exome Variant Server UCKL1_000092 94/13004 6/8600 88/4404 - - - - - - -
?/? c.583-7T>C r.(=) p.(=) g.62577082A>G Copied from the Exome Variant Server UCKL1_000091 3/13004 3/8600 0/4404 - - - - - - -
?/? c.654G>A r.(=) p.(=) g.62577004C>T Copied from the Exome Variant Server UCKL1_000090 1/13000 1/8594 0/4406 - - - - - - -
?/? c.654+11G>A r.(=) p.(=) g.62576993C>T Copied from the Exome Variant Server UCKL1_000089 1/12998 1/8592 0/4406 - - - - - - -
?/? c.654+13C>T r.(=) p.(=) g.62576991G>A Copied from the Exome Variant Server UCKL1_000088 4403/12998 2305/8592 2098/4406 - - - - - - -
?/? c.654+14G>A r.(=) p.(=) g.62576990C>T Copied from the Exome Variant Server UCKL1_000087 1/12996 0/8590 1/4406 - - - - - - -
?/? c.654+18A>T r.(=) p.(=) g.62576986T>A Copied from the Exome Variant Server UCKL1_000086 2/12996 1/8590 1/4406 - - - - - - -
?/? c.654+29G>A r.(=) p.(=) g.62576975C>T Copied from the Exome Variant Server UCKL1_000085 9/13002 9/8596 0/4406 - - - - - - -
?/? c.654+38T>C r.(=) p.(=) g.62576966A>G Copied from the Exome Variant Server UCKL1_000084 16/12996 0/8590 16/4406 - - - - - - -
?/? c.654+42C>T r.(=) p.(=) g.62576962G>A Copied from the Exome Variant Server UCKL1_000083 13/12998 13/8592 0/4406 - - - - - - -
?/? c.654+50G>A r.(=) p.(=) g.62576954C>T Copied from the Exome Variant Server UCKL1_000082 3/13000 3/8596 0/4404 - - - - - - -
?/? c.655-35C>T r.(=) p.(=) g.62576122G>A Copied from the Exome Variant Server UCKL1_000081 1/12974 0/8582 1/4392 - - - - - - -
?/? c.655-6C>T r.(=) p.(=) g.62576093G>A Copied from the Exome Variant Server UCKL1_000080 1/12982 1/8590 0/4392 - - - - - - -
?/? c.655-5A>G r.spl? p.? g.62576092T>C Copied from the Exome Variant Server UCKL1_000079 99/12982 0/8590 99/4392 - - - - - - -
?/? c.675T>C r.(=) p.(=) g.62576067A>G Copied from the Exome Variant Server UCKL1_000078 17/12990 0/8598 17/4392 - - - - - - -
?/? c.693C>T r.(=) p.(=) g.62576049G>A Copied from the Exome Variant Server UCKL1_000077 3/12990 0/8594 3/4396 - - - - - - -
?/? c.748G>A r.(?) p.(Glu250Lys) g.62575994C>T Copied from the Exome Variant Server UCKL1_000076 1/12994 0/8596 1/4398 - - - - - - -
?/? c.762G>A r.(=) p.(=) g.62575980C>T Copied from the Exome Variant Server UCKL1_000075 1/12992 1/8594 0/4398 - - - - - - -
?/? c.802A>C r.(?) p.(Ile268Leu) g.62575940T>G Copied from the Exome Variant Server UCKL1_000074 1/12976 1/8590 0/4386 - - - - - - -
?/? c.820C>T r.(=) p.(=) g.62575922G>A Copied from the Exome Variant Server UCKL1_000073 6/12972 0/8590 6/4382 - - - - - - -
?/? c.831C>T r.(=) p.(=) g.62575911G>A Copied from the Exome Variant Server UCKL1_000072 1/12972 1/8588 0/4384 - - - - - - -
?/? c.844+3G>C r.spl? p.? g.62575895C>G Copied from the Exome Variant Server UCKL1_000071 4/12966 0/8586 4/4380 - - - - - - -
?/? c.845-42A>G r.(=) p.(=) g.62575853T>C Copied from the Exome Variant Server UCKL1_000070 6/12882 6/8538 0/4344 - - - - - - -
?/? c.845-29C>T r.(=) p.(=) g.62575840G>A Copied from the Exome Variant Server UCKL1_000069 4/12778 3/8472 1/4306 - - - - - - -
?/? c.845-19C>T r.(=) p.(=) g.62575830G>A Copied from the Exome Variant Server UCKL1_000068 1/12716 1/8430 0/4286 - - - - - - -
?/? c.845-15_845-3del r.spl? p.? g.62575814_62575826del Copied from the Exome Variant Server UCKL1_000067 8/12092 7/8002 1/4090 - - - - - - -
?/? c.857C>T r.(?) p.(Thr286Met) g.62575799G>A Copied from the Exome Variant Server UCKL1_000066 1/12836 1/8520 0/4316 - - - - - - -
?/? c.858G>A r.(=) p.(=) g.62575798C>T Copied from the Exome Variant Server UCKL1_000065 1/12838 0/8518 1/4320 - - - - - - -
?/? c.886G>A r.(?) p.(Val296Met) g.62575770C>T Copied from the Exome Variant Server UCKL1_000064 1/12844 1/8530 0/4314 - - - - - - -
?/? c.906+17G>A r.(=) p.(=) g.62575733C>T Copied from the Exome Variant Server UCKL1_000063 16/12726 1/8452 15/4274 - - - - - - -
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