Full data view for gene SEL1L

Information The variants shown are described using the NM_005065.5 transcript reference sequence.

139 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.-37G>T r.(=) p.(=) g.82000125C>A Copied from the Exome Variant Server SEL1L_000138 509/12986 25/8588 484/4398 - - - - - - -
?/? c.-30C>G r.(=) p.(=) g.82000118G>C Copied from the Exome Variant Server SEL1L_000136 7/12986 0/8588 7/4398 - - - - - - -
?/? c.-19C>G r.(=) p.(=) g.82000107G>C Copied from the Exome Variant Server SEL1L_000139 2/13000 0/8596 2/4404 - - - - - - -
?/? c.21G>A r.(=) p.(=) g.82000068C>T Copied from the Exome Variant Server SEL1L_000137 1/12998 0/8594 1/4404 - - - - - - -
?/? c.43C>T r.(=) p.(=) g.82000046G>A Copied from the Exome Variant Server SEL1L_000135 7/13000 0/8596 7/4404 - - - - - - -
?/? c.60G>T r.(=) p.(=) g.82000029C>A Copied from the Exome Variant Server SEL1L_000134 9/12996 0/8592 9/4404 - - - - - - -
?/? c.70+19G>A r.(=) p.(=) g.82000000C>T Copied from the Exome Variant Server SEL1L_000133 3/12944 0/8564 3/4380 - - - - - - -
?/? c.70+44C>T r.(=) p.(=) g.81999975G>A Copied from the Exome Variant Server SEL1L_000132 5/12388 0/8210 5/4178 - - - - - - -
?/? c.71-71_71-70del r.(=) p.(=) g.81994152_81994153del Copied from the Exome Variant Server SEL1L_000131 2/12492 1/8230 1/4262 - - - - - - -
?/? c.71-2A>G r.spl? p.? g.81994084T>C Copied from the Exome Variant Server SEL1L_000130 2/13000 0/8594 2/4406 - - - - - - -
?/? c.83G>A r.(?) p.(Ser28Asn) g.81994070C>T Copied from the Exome Variant Server SEL1L_000129 48/13002 22/8596 26/4406 - - - - - - -
?/? c.108+7A>T r.(=) p.(=) g.81994038T>A Copied from the Exome Variant Server SEL1L_000128 2/13006 2/8600 0/4406 - - - - - - -
?/? c.109-26T>C r.(=) p.(=) g.81993334A>G Copied from the Exome Variant Server SEL1L_000127 10/13000 0/8596 10/4404 - - - - - - -
?/? c.109-8A>G r.(=) p.(=) g.81993316T>C Copied from the Exome Variant Server SEL1L_000126 1/13002 1/8596 0/4406 - - - - - - -
?/? c.142C>T r.(?) p.(His48Tyr) g.81993275G>A Copied from the Exome Variant Server SEL1L_000125 1/13006 1/8600 0/4406 - - - - - - -
?/? c.147T>C r.(=) p.(=) g.81993270A>G Copied from the Exome Variant Server SEL1L_000124 1/13006 0/8600 1/4406 - - - - - - -
?/? c.214A>G r.(?) p.(Ile72Val) g.81993203T>C Copied from the Exome Variant Server SEL1L_000123 1/13006 1/8600 0/4406 - - - - - - -
?/? c.215T>A r.(?) p.(Ile72Asn) g.81993202A>T Copied from the Exome Variant Server SEL1L_000122 1/13006 0/8600 1/4406 - - - - - - -
?/? c.235C>A r.(?) p.(Leu79Ile) g.81993182G>T Copied from the Exome Variant Server SEL1L_000121 1/13006 1/8600 0/4406 - - - - - - -
?/? c.248A>G r.(?) p.(Glu83Gly) g.81993169T>C Copied from the Exome Variant Server SEL1L_000120 1/13006 0/8600 1/4406 - - - - - - -
?/? c.249G>A r.(=) p.(=) g.81993168C>T Copied from the Exome Variant Server SEL1L_000119 1/13006 1/8600 0/4406 - - - - - - -
?/? c.292A>T r.(?) p.(Asn98Tyr) g.81993125T>A Copied from the Exome Variant Server SEL1L_000118 10/13006 0/8600 10/4406 - - - - - - -
?/? c.297A>G r.(=) p.(=) g.81993120T>C Copied from the Exome Variant Server SEL1L_000117 1/13006 1/8600 0/4406 - - - - - - -
?/? c.340+4G>A r.spl? p.? g.81993073C>T Copied from the Exome Variant Server SEL1L_000116 147/13006 1/8600 146/4406 - - - - - - -
?/? c.340+13T>G r.(=) p.(=) g.81993064A>C Copied from the Exome Variant Server SEL1L_000115 1/13006 0/8600 1/4406 - - - - - - -
?/? c.340+22C>G r.(=) p.(=) g.81993055G>C Copied from the Exome Variant Server SEL1L_000114 1/13006 1/8600 0/4406 - - - - - - -
?/? c.340+47T>G r.(=) p.(=) g.81993030A>C Copied from the Exome Variant Server SEL1L_000113 5/13004 4/8600 1/4404 - - - - - - -
?/? c.341-36G>C r.(=) p.(=) g.81972621C>G Copied from the Exome Variant Server SEL1L_000112 1/13006 0/8600 1/4406 - - - - - - -
?/? c.341-23A>G r.(=) p.(=) g.81972608T>C Copied from the Exome Variant Server SEL1L_000111 3/13006 3/8600 0/4406 - - - - - - -
?/? c.404A>G r.(?) p.(Asp135Gly) g.81972522T>C Copied from the Exome Variant Server SEL1L_000110 1/13006 1/8600 0/4406 - - - - - - -
?/? c.485A>G r.(?) p.(Asp162Gly) g.81972441T>C Copied from the Exome Variant Server SEL1L_000109 140/13006 124/8600 16/4406 - - - - - - -
?/? c.508+11C>T r.(=) p.(=) g.81972407G>A Copied from the Exome Variant Server SEL1L_000108 1/13006 1/8600 0/4406 - - - - - - -
?/? c.508+14A>G r.(=) p.(=) g.81972404T>C Copied from the Exome Variant Server SEL1L_000107 61/13006 0/8600 61/4406 - - - - - - -
?/? c.508+27T>A r.(=) p.(=) g.81972391A>T Copied from the Exome Variant Server SEL1L_000106 1/13006 1/8600 0/4406 - - - - - - -
?/? c.509-48T>C r.(=) p.(=) g.81970698A>G Copied from the Exome Variant Server SEL1L_000105 30/12998 0/8594 30/4404 - - - - - - -
?/? c.509-42G>T r.(=) p.(=) g.81970692C>A Copied from the Exome Variant Server SEL1L_000104 2/13000 0/8596 2/4404 - - - - - - -
?/? c.509-24A>G r.(=) p.(=) g.81970674T>C Copied from the Exome Variant Server SEL1L_000103 2/13000 2/8596 0/4404 - - - - - - -
?/? c.509-13G>A r.(=) p.(=) g.81970663C>T Copied from the Exome Variant Server SEL1L_000102 62/13000 1/8596 61/4404 - - - - - - -
?/? c.523G>A r.(?) p.(Ala175Thr) g.81970636C>T Copied from the Exome Variant Server SEL1L_000101 2/13006 1/8600 1/4406 - - - - - - -
?/? c.542A>G r.(?) p.(Gln181Arg) g.81970617T>C Copied from the Exome Variant Server SEL1L_000100 1/13006 1/8600 0/4406 - - - - - - -
?/? c.556A>G r.(?) p.(Met186Val) g.81970603T>C Copied from the Exome Variant Server SEL1L_000099 3/13006 3/8600 0/4406 - - - - - - -
?/? c.572T>C r.(?) p.(Met191Thr) g.81970587A>G Copied from the Exome Variant Server SEL1L_000098 114/13006 0/8600 114/4406 - - - - - - -
?/? c.611G>A r.(?) p.(Arg204Lys) g.81970548C>T Copied from the Exome Variant Server SEL1L_000097 1/13002 0/8598 1/4404 - - - - - - -
?/? c.614+7A>C r.(=) p.(=) g.81970538T>G Copied from the Exome Variant Server SEL1L_000096 7/13002 7/8598 0/4404 - - - - - - -
?/? c.614+33A>G r.(=) p.(=) g.81970512T>C Copied from the Exome Variant Server SEL1L_000095 871/13002 7/8598 864/4404 - - - - - - -
?/? c.615-52A>T r.(=) p.(=) g.81969279T>A Copied from the Exome Variant Server SEL1L_000094 30/7272 27/4618 3/2654 - - - - - - -
?/? c.622C>T r.(?) p.(Arg208Trp) g.81969220G>A Copied from the Exome Variant Server SEL1L_000093 1/13006 1/8600 0/4406 - - - - - - -
?/? c.623G>A r.(?) p.(Arg208Gln) g.81969219C>T Copied from the Exome Variant Server SEL1L_000092 6/13006 0/8600 6/4406 - - - - - - -
?/? c.630C>G r.(=) p.(=) g.81969212G>C Copied from the Exome Variant Server SEL1L_000091 3/13006 0/8600 3/4406 - - - - - - -
?/? c.667G>C r.(?) p.(Glu223Gln) g.81969175C>G Copied from the Exome Variant Server SEL1L_000090 1/13006 1/8600 0/4406 - - - - - - -
?/? c.674T>C r.(?) p.(Val225Ala) g.81969168A>G Copied from the Exome Variant Server SEL1L_000089 14/13006 14/8600 0/4406 - - - - - - -
?/? c.684T>C r.(=) p.(=) g.81969158A>G Copied from the Exome Variant Server SEL1L_000087 477/13006 0/8600 477/4406 - - - - - - -
?/? c.725C>T r.(?) p.(Ala242Val) g.81969117G>A Copied from the Exome Variant Server SEL1L_000088 1/13006 1/8600 0/4406 - - - - - - -
?/? c.778-49G>A r.(=) p.(=) g.81966055C>T Copied from the Exome Variant Server SEL1L_000086 10/12994 0/8596 10/4398 - - - - - - -
?/? c.778-11A>G r.(=) p.(=) g.81966017T>C Copied from the Exome Variant Server SEL1L_000085 1/12996 1/8592 0/4404 - - - - - - -
?/? c.780T>C r.(=) p.(=) g.81966004A>G Copied from the Exome Variant Server SEL1L_000084 1/12998 1/8594 0/4404 - - - - - - -
?/? c.831+9A>G r.(=) p.(=) g.81965944T>C Copied from the Exome Variant Server SEL1L_000083 4/13004 4/8598 0/4406 - - - - - - -
?/? c.831+19T>C r.(=) p.(=) g.81965934A>G Copied from the Exome Variant Server SEL1L_000082 1/13004 1/8598 0/4406 - - - - - - -
?/? c.831+25A>G r.(=) p.(=) g.81965928T>C Copied from the Exome Variant Server SEL1L_000081 1/13004 1/8598 0/4406 - - - - - - -
?/? c.831+32A>G r.(=) p.(=) g.81965921T>C Copied from the Exome Variant Server SEL1L_000080 1/13006 0/8600 1/4406 - - - - - - -
?/? c.831+37G>A r.(=) p.(=) g.81965916C>T Copied from the Exome Variant Server SEL1L_000079 2/13004 2/8600 0/4404 - - - - - - -
?/? c.832-40C>T r.(=) p.(=) g.81965902G>A Copied from the Exome Variant Server SEL1L_000078 1/13006 0/8600 1/4406 - - - - - - -
?/? c.832-33A>G r.(=) p.(=) g.81965895T>C Copied from the Exome Variant Server SEL1L_000077 1/13006 0/8600 1/4406 - - - - - - -
?/? c.832-31G>T r.(=) p.(=) g.81965893C>A Copied from the Exome Variant Server SEL1L_000076 2/13006 2/8600 0/4406 - - - - - - -
?/? c.832-9C>T r.(=) p.(=) g.81965871G>A Copied from the Exome Variant Server SEL1L_000075 1/13006 1/8600 0/4406 - - - - - - -
?/? c.873A>G r.(=) p.(=) g.81965821T>C Copied from the Exome Variant Server SEL1L_000074 2/13006 1/8600 1/4406 - - - - - - -
?/? c.891+13T>C r.(=) p.(=) g.81965790A>G Copied from the Exome Variant Server SEL1L_000073 1/13004 1/8598 0/4406 - - - - - - -
?/? c.892-27G>T r.(=) p.(=) g.81964865C>A Copied from the Exome Variant Server SEL1L_000072 1/13006 1/8600 0/4406 - - - - - - -
?/? c.892-12G>A r.(=) p.(=) g.81964850C>T Copied from the Exome Variant Server SEL1L_000071 15/13006 14/8600 1/4406 - - - - - - -
?/? c.913A>G r.(?) p.(Ile305Val) g.81964817T>C Copied from the Exome Variant Server SEL1L_000070 1/13006 1/8600 0/4406 - - - - - - -
?/? c.916G>A r.(?) p.(Gly306Ser) g.81964814C>T Copied from the Exome Variant Server SEL1L_000069 4/13006 4/8600 0/4406 - - - - - - -
?/? c.919G>A r.(?) p.(Val307Ile) g.81964811C>T Copied from the Exome Variant Server SEL1L_000068 1/13006 1/8600 0/4406 - - - - - - -
?/? c.929G>A r.(?) p.(Ser310Asn) g.81964801C>T Copied from the Exome Variant Server SEL1L_000067 1/13006 1/8600 0/4406 - - - - - - -
?/? c.971A>G r.(?) p.(His324Arg) g.81964759T>C Copied from the Exome Variant Server SEL1L_000066 1/13006 0/8600 1/4406 - - - - - - -
?/? c.973+2T>C r.spl? p.? g.81964755A>G Copied from the Exome Variant Server SEL1L_000065 1/13006 1/8600 0/4406 - - - - - - -
?/? c.973+39_973+40del r.(=) p.(=) g.81964717_81964718del Copied from the Exome Variant Server SEL1L_000064 10/12518 0/8254 10/4264 - - - - - - -
?/? c.973+40del r.(=) p.(=) g.81964717del Copied from the Exome Variant Server SEL1L_000063 7/12518 1/8254 6/4264 - - - - - - -
?/? c.974-25T>C r.(=) p.(=) g.81964415A>G Copied from the Exome Variant Server SEL1L_000062 2/13006 0/8600 2/4406 - - - - - - -
?/? c.974-20G>A r.(=) p.(=) g.81964410C>T Copied from the Exome Variant Server SEL1L_000061 938/13006 30/8600 908/4406 - - - - - - -
?/? c.974-20_974-18del r.(=) p.(=) g.81964408_81964410del Copied from the Exome Variant Server SEL1L_000060 200/12518 4/8254 196/4264 - - - - - - -
?/? c.1038G>A r.(=) p.(=) g.81964326C>T Copied from the Exome Variant Server SEL1L_000059 19/13006 0/8600 19/4406 - - - - - - -
?/? c.1078T>G r.(?) p.(Leu360Val) g.81964286A>C Copied from the Exome Variant Server SEL1L_000058 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1128+11G>A r.(=) p.(=) g.81964225C>T Copied from the Exome Variant Server SEL1L_000057 2/13006 0/8600 2/4406 - - - - - - -
?/? c.1128+22C>G r.(=) p.(=) g.81964214G>C Copied from the Exome Variant Server SEL1L_000056 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1129-41A>G r.(=) p.(=) g.81961522T>C Copied from the Exome Variant Server SEL1L_000055 2/13006 0/8600 2/4406 - - - - - - -
?/? c.1129-23G>C r.(=) p.(=) g.81961504C>G Copied from the Exome Variant Server SEL1L_000054 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1185+22C>T r.(=) p.(=) g.81961403G>A Copied from the Exome Variant Server SEL1L_000053 26/13006 24/8600 2/4406 - - - - - - -
?/? c.1185+59A>G r.(=) p.(=) g.81961366T>C Copied from the Exome Variant Server SEL1L_000052 4/4566 4/3182 0/1384 - - - - - - -
?/? c.1185+72T>C r.(=) p.(=) g.81961353A>G Copied from the Exome Variant Server SEL1L_000051 1/4566 1/3182 0/1384 - - - - - - -
?/? c.1186-16A>C r.(=) p.(=) g.81958908T>G Copied from the Exome Variant Server SEL1L_000050 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1186_1189del r.(?) p.(Arg396Hisfs*7) g.81958889_81958892del Copied from the Exome Variant Server SEL1L_000049 1/12518 1/8254 0/4264 - - - - - - -
?/? c.1254+16T>C r.(=) p.(=) g.81958808A>G Copied from the Exome Variant Server SEL1L_000048 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1254+49A>G r.(=) p.(=) g.81958775T>C Copied from the Exome Variant Server SEL1L_000047 2/13006 0/8600 2/4406 - - - - - - -
?/? c.1255-50A>C r.(=) p.(=) g.81956859T>G Copied from the Exome Variant Server SEL1L_000046 62/13006 0/8600 62/4406 - - - - - - -
?/? c.1255-14G>C r.(=) p.(=) g.81956823C>G Copied from the Exome Variant Server SEL1L_000045 3/13006 3/8600 0/4406 - - - - - - -
?/? c.1255-10T>C r.(=) p.(=) g.81956819A>G Copied from the Exome Variant Server SEL1L_000044 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1263G>A r.(=) p.(=) g.81956801C>T Copied from the Exome Variant Server SEL1L_000043 83/13006 21/8600 62/4406 - - - - - - -
?/? c.1296G>A r.(=) p.(=) g.81956768C>T Copied from the Exome Variant Server SEL1L_000042 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1395+28T>G r.(=) p.(=) g.81955568A>C Copied from the Exome Variant Server SEL1L_000041 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1395+34A>G r.(=) p.(=) g.81955562T>C Copied from the Exome Variant Server SEL1L_000040 1/13006 1/8600 0/4406 - - - - - - -
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