All transcript variants in gene ELAC2

Information The variants shown are described using the NM_001165962.1 transcript reference sequence.

214 entries on 3 pages. Showing entries 1 - 100.
Legend   « First ‹ Prev     1 2 3     Next › Last »

Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.120G>T r.(=) p.(=) g.12921145C>A Copied from the Exome Variant Server ELAC2_000214 1/12328 0/8204 1/4124
?/? c.155C>T r.(?) p.(Ser52Phe) g.12921110G>A Copied from the Exome Variant Server ELAC2_000213 19/12846 3/8518 16/4328
?/? c.156C>T r.(=) p.(=) g.12921109G>A Copied from the Exome Variant Server ELAC2_000212 2/12840 0/8514 2/4326
?/? c.159C>T r.(=) p.(=) g.12921106G>A Copied from the Exome Variant Server ELAC2_000211 4/12842 0/8512 4/4330
?/? c.180G>A r.(=) p.(=) g.12921085C>T Copied from the Exome Variant Server ELAC2_000210 1/12820 1/8500 0/4320
?/? c.195G>A r.(=) p.(=) g.12921070C>T Copied from the Exome Variant Server ELAC2_000209 2/12884 2/8524 0/4360
?/? c.222C>G r.(=) p.(=) g.12921043G>C Copied from the Exome Variant Server ELAC2_000208 1/12984 0/8590 1/4394
?/? c.224A>G r.(?) p.(Tyr75Cys) g.12921041T>C Copied from the Exome Variant Server ELAC2_000207 1/12986 1/8590 0/4396
?/? c.226G>A r.(?) p.(Val76Ile) g.12921039C>T Copied from the Exome Variant Server ELAC2_000206 1/12988 1/8592 0/4396
?/? c.244C>T r.(?) p.(Arg82Trp) g.12921021G>A Copied from the Exome Variant Server ELAC2_000205 1/12986 1/8590 0/4396
?/? c.245+14C>T r.(=) p.(=) g.12921006G>A Copied from the Exome Variant Server ELAC2_000204 1/12972 1/8590 0/4382
?/? c.246-41A>C r.(=) p.(=) g.12920479T>G Copied from the Exome Variant Server ELAC2_000203 1/13006 0/8600 1/4406
?/? c.246-40T>C r.(=) p.(=) g.12920478A>G Copied from the Exome Variant Server ELAC2_000202 1/13006 1/8600 0/4406
?/? c.250C>T r.(?) p.(Leu84Phe) g.12920434G>A Copied from the Exome Variant Server ELAC2_000201 1/13006 0/8600 1/4406
?/? c.296+29_296+30insG r.(=) p.(=) g.12920358_12920359insC Copied from the Exome Variant Server ELAC2_000200 1/12512 1/8250 0/4262
?/? c.297-14T>G r.(=) p.(=) g.12920263A>C Copied from the Exome Variant Server ELAC2_000199 1/13006 0/8600 1/4406
?/? c.297-11T>C r.(=) p.(=) g.12920260A>G Copied from the Exome Variant Server ELAC2_000198 3542/13006 2571/8600 971/4406
?/? c.297-4T>C r.spl? p.? g.12920253A>G Copied from the Exome Variant Server ELAC2_000197 1/13006 1/8600 0/4406
?/? c.333A>G r.(=) p.(=) g.12920213T>C Copied from the Exome Variant Server ELAC2_000196 1/13006 1/8600 0/4406
?/? c.347C>T r.(?) p.(Ser116Phe) g.12920199G>A Copied from the Exome Variant Server ELAC2_000195 3/13006 0/8600 3/4406
?/? c.349A>G r.(?) p.(Asn117Asp) g.12920197T>C Copied from the Exome Variant Server ELAC2_000194 1/13006 1/8600 0/4406
?/? c.351T>C r.(=) p.(=) g.12920195A>G Copied from the Exome Variant Server ELAC2_000193 2/13006 0/8600 2/4406
?/? c.357G>A r.(=) p.(=) g.12920189C>T Copied from the Exome Variant Server ELAC2_000192 1/13006 0/8600 1/4406
?/? c.367+32G>T r.(=) p.(=) g.12920147C>A Copied from the Exome Variant Server ELAC2_000191 2/13006 2/8600 0/4406
?/? c.368-47C>T r.(=) p.(=) g.12919196G>A Copied from the Exome Variant Server ELAC2_000190 1/13006 0/8600 1/4406
?/? c.368-26G>A r.(=) p.(=) g.12919175C>T Copied from the Exome Variant Server ELAC2_000189 1/13006 0/8600 1/4406
?/? c.368-4T>A r.spl? p.? g.12919153A>T Copied from the Exome Variant Server ELAC2_000188 57/13006 55/8600 2/4406
?/? c.369A>G r.(=) p.(=) g.12919148T>C Copied from the Exome Variant Server ELAC2_000187 2/13006 2/8600 0/4406
?/? c.387G>A r.(=) p.(=) g.12919130C>T Copied from the Exome Variant Server ELAC2_000186 1/13006 1/8600 0/4406
?/? c.394G>A r.(?) p.(Gly132Arg) g.12919123C>T Copied from the Exome Variant Server ELAC2_000185 1/13006 1/8600 0/4406
?/? c.395G>C r.(?) p.(Gly132Ala) g.12919122C>G Copied from the Exome Variant Server ELAC2_000184 2/13006 2/8600 0/4406
?/? c.433-53C>G r.(=) p.(=) g.12917866G>C Copied from the Exome Variant Server ELAC2_000183 4/4564 0/3180 4/1384
?/? c.433-43C>T r.(=) p.(=) g.12917856G>A Copied from the Exome Variant Server ELAC2_000182 1180/13006 1080/8600 100/4406
?/? c.433-32C>T r.(=) p.(=) g.12917845G>A Copied from the Exome Variant Server ELAC2_000181 1/13006 0/8600 1/4406
?/? c.433-22T>G r.(=) p.(=) g.12917835A>C Copied from the Exome Variant Server ELAC2_000180 1/13006 0/8600 1/4406
?/? c.433-5A>G r.spl? p.? g.12917818T>C Copied from the Exome Variant Server ELAC2_000179 2/13006 2/8600 0/4406
?/? c.467G>T r.(?) p.(Gly156Val) g.12917779C>A Copied from the Exome Variant Server ELAC2_000178 1/13006 1/8600 0/4406
?/? c.490+21C>T r.(=) p.(=) g.12917735G>A Copied from the Exome Variant Server ELAC2_000177 1/13006 1/8600 0/4406
?/? c.490+32A>G r.(=) p.(=) g.12917724T>C Copied from the Exome Variant Server ELAC2_000176 1/13006 0/8600 1/4406
?/? c.490+44T>C r.(=) p.(=) g.12917712A>G Copied from the Exome Variant Server ELAC2_000175 1/13006 1/8600 0/4406
?/? c.490+50C>T r.(=) p.(=) g.12917706G>A Copied from the Exome Variant Server ELAC2_000174 16/13006 15/8600 1/4406
?/? c.491-47C>T r.(=) p.(=) g.12916639G>A Copied from the Exome Variant Server ELAC2_000173 4/13006 2/8600 2/4406
?/? c.491-47del r.(=) p.(=) g.12916639del Copied from the Exome Variant Server ELAC2_000172 1/12518 0/8254 1/4264
?/? c.491-46_491-45insACTACCCACACA r.(=) p.(=) g.12916637_12916638insTGTGTGGGTAGT Copied from the Exome Variant Server ELAC2_000171 109/12518 98/8254 11/4264
?/? c.491-45T>A r.(=) p.(=) g.12916637A>T Copied from the Exome Variant Server ELAC2_000170 1/13006 0/8600 1/4406
?/? c.491-37_491-36insCCCACACATCTTCACTA r.(=) p.(=) g.12916628_12916629insTAGTGAAGATGTGTGGG Copied from the Exome Variant Server ELAC2_000169 112/12518 101/8254 11/4264
?/? c.491-31A>G r.(=) p.(=) g.12916623T>C Copied from the Exome Variant Server ELAC2_000168 1/13006 1/8600 0/4406
?/? c.491-14T>C r.(=) p.(=) g.12916606A>G Copied from the Exome Variant Server ELAC2_000167 1181/13006 1081/8600 100/4406
?/? c.512C>T r.(?) p.(Pro171Leu) g.12916571G>A Copied from the Exome Variant Server ELAC2_000166 1/13006 1/8600 0/4406
?/? c.559+49A>G r.(=) p.(=) g.12916475T>C Copied from the Exome Variant Server ELAC2_000165 1/13006 0/8600 1/4406
?/? c.559+61G>A r.(=) p.(=) g.12916463C>T Copied from the Exome Variant Server ELAC2_000164 13/4566 0/3182 13/1384
?/? c.560-1159C>G r.(=) p.(=) g.12915147G>C Copied from the Exome Variant Server ELAC2_000163 7/13006 0/8600 7/4406
?/? c.560-1155T>C r.(=) p.(=) g.12915143A>G Copied from the Exome Variant Server ELAC2_000162 1/13006 1/8600 0/4406
?/? c.560-1113A>G r.(=) p.(=) g.12915101T>C Copied from the Exome Variant Server ELAC2_000161 30/13006 0/8600 30/4406
?/? c.560-1071A>G r.(=) p.(=) g.12915059T>C Copied from the Exome Variant Server ELAC2_000160 2/13006 0/8600 2/4406
?/? c.560-1039G>A r.(=) p.(=) g.12915027C>T Copied from the Exome Variant Server ELAC2_000159 3/13006 3/8600 0/4406
?/? c.560-1021C>T r.(=) p.(=) g.12915009G>A Copied from the Exome Variant Server ELAC2_000158 3586/13006 2552/8600 1034/4406
?/? c.560-953C>T r.(=) p.(=) g.12914941G>A Copied from the Exome Variant Server ELAC2_000157 20/13006 19/8600 1/4406
?/? c.560-36A>G r.(=) p.(=) g.12914024T>C Copied from the Exome Variant Server ELAC2_000156 1236/13006 1123/8600 113/4406
?/? c.580G>A r.(?) p.(Val194Ile) g.12913968C>T Copied from the Exome Variant Server ELAC2_000155 3/13006 3/8600 0/4406
?/? c.595C>T r.(=) p.(=) g.12913953G>A Copied from the Exome Variant Server ELAC2_000154 1/13006 0/8600 1/4406
?/? c.604G>C r.(?) p.(Ala202Pro) g.12913944C>G Copied from the Exome Variant Server ELAC2_000153 1/13006 1/8600 0/4406
?/? c.618+29A>G r.(=) p.(=) g.12913901T>C Copied from the Exome Variant Server ELAC2_000152 2/13006 0/8600 2/4406
?/? c.618+50G>A r.(=) p.(=) g.12913880C>T Copied from the Exome Variant Server ELAC2_000151 1/13006 1/8600 0/4406
?/? c.619-25C>T r.(=) p.(=) g.12909321G>A Copied from the Exome Variant Server ELAC2_000150 1/13006 1/8600 0/4406
?/? c.619-18A>G r.(=) p.(=) g.12909314T>C Copied from the Exome Variant Server ELAC2_000149 6/13006 1/8600 5/4406
?/? c.677+39T>G r.(=) p.(=) g.12909199A>C Copied from the Exome Variant Server ELAC2_000148 14/13006 13/8600 1/4406
?/? c.678-21G>C r.(=) p.(=) g.12909163C>G Copied from the Exome Variant Server ELAC2_000147 4/13006 0/8600 4/4406
?/? c.678-20G>T r.(=) p.(=) g.12909162C>A Copied from the Exome Variant Server ELAC2_000146 493/13006 331/8600 162/4406
?/? c.678-13C>G r.(=) p.(=) g.12909155G>C Copied from the Exome Variant Server ELAC2_000145 1/13006 1/8600 0/4406
?/? c.714C>T r.(=) p.(=) g.12909106G>A Copied from the Exome Variant Server ELAC2_000144 1/13006 0/8600 1/4406
?/? c.720C>T r.(=) p.(=) g.12909100G>A Copied from the Exome Variant Server ELAC2_000143 1/13006 0/8600 1/4406
?/? c.721G>A r.(?) p.(Gly241Arg) g.12909099C>T Copied from the Exome Variant Server ELAC2_000142 1/13006 1/8600 0/4406
?/? c.750+23_750+24insGAT r.(=) p.(=) g.12909046_12909047insATC Copied from the Exome Variant Server ELAC2_000141 3257/12518 2447/8254 810/4264
?/? c.751-17C>T r.(=) p.(=) g.12908435G>A Copied from the Exome Variant Server ELAC2_000140 2/13006 0/8600 2/4406
?/? c.751-12T>C r.(=) p.(=) g.12908430A>G Copied from the Exome Variant Server ELAC2_000139 1/13006 1/8600 0/4406
?/? c.757G>A r.(?) p.(Ala253Thr) g.12908412C>T Copied from the Exome Variant Server ELAC2_000138 1/13006 1/8600 0/4406
?/? c.852C>T r.(=) p.(=) g.12908317G>A Copied from the Exome Variant Server ELAC2_000137 1/13006 1/8600 0/4406
?/? c.864-50G>C r.(=) p.(=) g.12906941C>G Copied from the Exome Variant Server ELAC2_000136 1/13006 0/8600 1/4406
?/? c.864-33C>T r.(=) p.(=) g.12906924G>A Copied from the Exome Variant Server ELAC2_000135 1/13006 1/8600 0/4406
?/? c.864-28C>T r.(=) p.(=) g.12906919G>A Copied from the Exome Variant Server ELAC2_000134 8/13006 0/8600 8/4406
?/? c.864-3C>T r.spl? p.? g.12906894G>A Copied from the Exome Variant Server ELAC2_000133 1/13006 1/8600 0/4406
?/? c.868C>G r.(?) p.(Gln290Glu) g.12906887G>C Copied from the Exome Variant Server ELAC2_000132 1/13006 0/8600 1/4406
?/? c.871G>A r.(?) p.(Gly291Arg) g.12906884C>T Copied from the Exome Variant Server ELAC2_000131 1/13006 1/8600 0/4406
?/? c.922G>A r.(?) p.(Val308Met) g.12906833C>T Copied from the Exome Variant Server ELAC2_000130 1/13006 1/8600 0/4406
?/? c.959+30G>A r.(=) p.(=) g.12906766C>T Copied from the Exome Variant Server ELAC2_000129 1/13006 0/8600 1/4406
?/? c.959+43G>T r.(=) p.(=) g.12906753C>A Copied from the Exome Variant Server ELAC2_000128 1/13006 1/8600 0/4406
?/? c.960-24A>G r.(=) p.(=) g.12905920T>C Copied from the Exome Variant Server ELAC2_000127 1/13000 1/8596 0/4404
?/? c.960-20C>T r.(=) p.(=) g.12905916G>A Copied from the Exome Variant Server ELAC2_000126 1/13000 0/8596 1/4404
?/? c.960-8C>A r.(=) p.(=) g.12905904G>T Copied from the Exome Variant Server ELAC2_000125 1/13002 0/8596 1/4406
?/? c.978G>C r.(?) p.(Gln326His) g.12905878C>G Copied from the Exome Variant Server ELAC2_000124 1/13006 1/8600 0/4406
?/? c.1066A>G r.(?) p.(Ile356Val) g.12905790T>C Copied from the Exome Variant Server ELAC2_000123 3/13006 0/8600 3/4406
?/? c.1091G>A r.(?) p.(Arg364His) g.12905765C>T Copied from the Exome Variant Server ELAC2_000122 1/13006 1/8600 0/4406
?/? c.1098+15C>T r.(=) p.(=) g.12905743G>A Copied from the Exome Variant Server ELAC2_000121 3508/13006 2554/8600 954/4406
?/? c.1098+16G>A r.(=) p.(=) g.12905742C>T Copied from the Exome Variant Server ELAC2_000120 6/13006 6/8600 0/4406
?/? c.1098+27G>A r.(=) p.(=) g.12905731C>T Copied from the Exome Variant Server ELAC2_000119 76/13006 1/8600 75/4406
?/? c.1098+34C>T r.(=) p.(=) g.12905724G>A Copied from the Exome Variant Server ELAC2_000118 1/13006 0/8600 1/4406
?/? c.1098+39G>A r.(=) p.(=) g.12905719C>T Copied from the Exome Variant Server ELAC2_000117 3/13006 3/8600 0/4406
?/? c.1099-28C>T r.(=) p.(=) g.12905704G>A Copied from the Exome Variant Server ELAC2_000116 2/13006 0/8600 2/4406
?/? c.1107C>T r.(=) p.(=) g.12905668G>A Copied from the Exome Variant Server ELAC2_000115 1/13006 1/8600 0/4406
Legend   « First ‹ Prev     1 2 3     Next › Last »