All transcript variants in gene OCA2

Information The variants shown are described using the NM_000275.2 transcript reference sequence.

280 entries on 3 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.-21-18del r.(=) p.(=) g.28327059del Copied from the Exome Variant Server OCA2_000277 2/11210 2/7488 0/3722
?/? c.21C>T r.(=) p.(=) g.28327000G>A Copied from the Exome Variant Server OCA2_000275 1/12036 1/8060 0/3976
?/? c.29G>A r.(?) p.(Arg10Gln) g.28326992C>T Copied from the Exome Variant Server OCA2_000273 2/12146 2/8160 0/3986
?/? c.37G>A r.(?) p.(Gly13Ser) g.28326984C>T Copied from the Exome Variant Server OCA2_000271 14/12340 0/8234 14/4106
?/? c.40G>A r.(?) p.(Ala14Thr) g.28326981C>T Copied from the Exome Variant Server OCA2_000269 2/12416 2/8278 0/4138
?/? c.45G>A r.(=) p.(=) g.28326976C>T Copied from the Exome Variant Server OCA2_000280 1/12626 1/8398 0/4228
?/? c.48G>A r.(=) p.(=) g.28326973C>T Copied from the Exome Variant Server OCA2_000279 3/12826 0/8502 3/4324
?/? c.69C>T r.(=) p.(=) g.28326952G>A Copied from the Exome Variant Server OCA2_000278 4/12968 4/8578 0/4390
?/? c.79G>A r.(?) p.(Gly27Arg) g.28326942C>T Copied from the Exome Variant Server OCA2_000276 73/12984 3/8584 70/4400
?/? c.84C>T r.(=) p.(=) g.28326937G>A Copied from the Exome Variant Server OCA2_000274 7/12984 0/8584 7/4400
?/? c.100G>A r.(?) p.(Gly34Ser) g.28326921C>T Copied from the Exome Variant Server OCA2_000272 2/12998 2/8596 0/4402
?/? c.106C>T r.(?) p.(Arg36Cys) g.28326915G>A Copied from the Exome Variant Server OCA2_000270 4/13000 4/8596 0/4404
?/? c.107G>T r.(?) p.(Arg36Leu) g.28326914C>A Copied from the Exome Variant Server OCA2_000268 1/13000 1/8596 0/4404
?/? c.126C>T r.(=) p.(=) g.28326895G>A Copied from the Exome Variant Server OCA2_000267 55/13002 0/8596 55/4406
?/? c.131del r.(?) p.(Gly44Glufs*58) g.28326890del Copied from the Exome Variant Server OCA2_000266 31/12516 22/8254 9/4262
?/? c.144G>A r.(=) p.(=) g.28326877C>T Copied from the Exome Variant Server OCA2_000265 1/13006 1/8600 0/4406
?/? c.169G>A r.(?) p.(Gly57Arg) g.28326852C>T Copied from the Exome Variant Server OCA2_000264 2/13006 0/8600 2/4406
?/? c.226A>T r.(?) p.(Arg76Trp) g.28326795T>A Copied from the Exome Variant Server OCA2_000263 2/13004 2/8600 0/4404
?/? c.227+3G>A r.spl? p.? g.28326791C>T Copied from the Exome Variant Server OCA2_000262 1/13004 1/8600 0/4404
?/? c.227+5G>A r.spl? p.? g.28326789C>T Copied from the Exome Variant Server OCA2_000261 1/13004 0/8600 1/4404
?/? c.228-43A>G r.(=) p.(=) g.28277352T>C Copied from the Exome Variant Server OCA2_000260 2/13006 2/8600 0/4406
?/? c.228-31G>A r.(=) p.(=) g.28277340C>T Copied from the Exome Variant Server OCA2_000259 2/13006 1/8600 1/4406
?/? c.228-29G>A r.(=) p.(=) g.28277338C>T Copied from the Exome Variant Server OCA2_000258 9/13006 8/8600 1/4406
?/? c.286G>A r.(?) p.(Glu96Lys) g.28277251C>T Copied from the Exome Variant Server OCA2_000257 1/13006 1/8600 0/4406
?/? c.326+30A>G r.(=) p.(=) g.28277181T>C Copied from the Exome Variant Server OCA2_000256 2/13006 1/8600 1/4406
?/? c.327-19C>T r.(=) p.(=) g.28273224G>A Copied from the Exome Variant Server OCA2_000255 1/13006 0/8600 1/4406
?/? c.365C>T r.(?) p.(Thr122Ile) g.28273167G>A Copied from the Exome Variant Server OCA2_000254 30/13006 0/8600 30/4406
?/? c.368C>A r.(?) p.(Ala123Asp) g.28273164G>T Copied from the Exome Variant Server OCA2_000253 1/13006 1/8600 0/4406
?/? c.371A>C r.(?) p.(Glu124Ala) g.28273161T>G Copied from the Exome Variant Server OCA2_000252 4/13006 0/8600 4/4406
?/? c.407G>A r.(?) p.(Arg136Gln) g.28273125C>T Copied from the Exome Variant Server OCA2_000251 1/13006 1/8600 0/4406
?/? c.428A>T r.(?) p.(Glu143Val) g.28273104T>A Copied from the Exome Variant Server OCA2_000250 1/13006 0/8600 1/4406
?/? c.440_441insT r.(?) p.(Ser148Valfs*73) g.28273091_28273092insA Copied from the Exome Variant Server OCA2_000249 2/12518 0/8254 2/4264
?/? c.484C>T r.(?) p.(Pro162Ser) g.28273048G>A Copied from the Exome Variant Server OCA2_000248 2/13006 0/8600 2/4406
?/? c.494G>A r.(?) p.(Arg165Gln) g.28273038C>T Copied from the Exome Variant Server OCA2_000247 1/13006 1/8600 0/4406
?/? c.500G>A r.(?) p.(Arg167His) g.28273032C>T Copied from the Exome Variant Server OCA2_000246 1/13006 1/8600 0/4406
?/? c.515+27G>C r.(=) p.(=) g.28272990C>G Copied from the Exome Variant Server OCA2_000245 1/13006 1/8600 0/4406
?/? c.515+51C>T r.(=) p.(=) g.28272966G>A Copied from the Exome Variant Server OCA2_000244 1/13004 0/8598 1/4406
?/? c.516-51G>A r.(=) p.(=) g.28270099C>T Copied from the Exome Variant Server OCA2_000243 1/13006 1/8600 0/4406
?/? c.516-4G>A r.spl? p.? g.28270052C>T Copied from the Exome Variant Server OCA2_000242 1/13006 0/8600 1/4406
?/? c.518G>A r.(?) p.(Arg173His) g.28270046C>T Copied from the Exome Variant Server OCA2_000241 1/13006 1/8600 0/4406
?/? c.542T>C r.(?) p.(Met181Thr) g.28270022A>G Copied from the Exome Variant Server OCA2_000240 1/13006 0/8600 1/4406
?/? c.548T>C r.(?) p.(Leu183Pro) g.28270016A>G Copied from the Exome Variant Server OCA2_000239 1/13006 1/8600 0/4406
?/? c.573+30G>A r.(=) p.(=) g.28269961C>T Copied from the Exome Variant Server OCA2_000238 1/13006 1/8600 0/4406
?/? c.573+39G>C r.(=) p.(=) g.28269952C>G Copied from the Exome Variant Server OCA2_000237 1/13006 0/8600 1/4406
?/? c.574-66A>G r.(=) p.(=) g.28267785T>C Copied from the Exome Variant Server OCA2_000236 6/4566 0/3182 6/1384
?/? c.574-53C>G r.(=) p.(=) g.28267772G>C Copied from the Exome Variant Server OCA2_000235 34/4566 30/3182 4/1384
?/? c.574-39T>C r.(=) p.(=) g.28267758A>G Copied from the Exome Variant Server OCA2_000234 433/13006 76/8600 357/4406
?/? c.574-32C>A r.(=) p.(=) g.28267751G>T Copied from the Exome Variant Server OCA2_000233 1/13006 1/8600 0/4406
?/? c.574-19A>G r.(=) p.(=) g.28267738T>C Copied from the Exome Variant Server OCA2_000232 88/13006 83/8600 5/4406
?/? c.574-18C>T r.(=) p.(=) g.28267737G>A Copied from the Exome Variant Server OCA2_000231 79/13006 1/8600 78/4406
?/? c.587T>G r.(?) p.(Leu196Arg) g.28267706A>C Copied from the Exome Variant Server OCA2_000230 1/13006 0/8600 1/4406
?/? c.588A>C r.(=) p.(=) g.28267705T>G Copied from the Exome Variant Server OCA2_000229 1/13006 1/8600 0/4406
?/? c.593C>T r.(?) p.(Pro198Leu) g.28267700G>A Copied from the Exome Variant Server OCA2_000228 4/13006 0/8600 4/4406
?/? c.597T>C r.(=) p.(=) g.28267696A>G Copied from the Exome Variant Server OCA2_000227 1/13006 1/8600 0/4406
?/? c.600A>T r.(?) p.(Gln200His) g.28267693T>A Copied from the Exome Variant Server OCA2_000226 2/13006 2/8600 0/4406
?/? c.632C>T r.(?) p.(Pro211Leu) g.28267661G>A Copied from the Exome Variant Server OCA2_000225 1/13006 1/8600 0/4406
?/? c.646+27C>T r.(=) p.(=) g.28267620G>A Copied from the Exome Variant Server OCA2_000224 1/13006 1/8600 0/4406
?/? c.646+51C>T r.(=) p.(=) g.28267596G>A Copied from the Exome Variant Server OCA2_000223 5/13006 0/8600 5/4406
?/? c.647-48A>G r.(=) p.(=) g.28263751T>C Copied from the Exome Variant Server OCA2_000222 1/12980 1/8590 0/4390
?/? c.647-4C>T r.spl? p.? g.28263707G>A Copied from the Exome Variant Server OCA2_000221 14/13006 0/8600 14/4406
?/? c.677C>T r.(?) p.(Thr226Met) g.28263673G>A Copied from the Exome Variant Server OCA2_000220 1/13004 1/8600 0/4404
?/? c.678G>A r.(=) p.(=) g.28263672C>T Copied from the Exome Variant Server OCA2_000219 15/13006 0/8600 15/4406
?/? c.688G>T r.(?) p.(Val230Leu) g.28263662C>A Copied from the Exome Variant Server OCA2_000218 5/13006 0/8600 5/4406
?/? c.696G>C r.(=) p.(=) g.28263654C>G Copied from the Exome Variant Server OCA2_000217 1/12996 1/8594 0/4402
?/? c.711G>A r.(=) p.(=) g.28263639C>T Copied from the Exome Variant Server OCA2_000216 12/13006 0/8600 12/4406
?/? c.722C>T r.(?) p.(Pro241Leu) g.28263628G>A Copied from the Exome Variant Server OCA2_000215 2/13006 0/8600 2/4406
?/? c.727C>T r.(?) p.(Arg243Cys) g.28263623G>A Copied from the Exome Variant Server OCA2_000214 4/13006 4/8600 0/4406
?/? c.750C>T r.(=) p.(=) g.28263600G>A Copied from the Exome Variant Server OCA2_000213 1/13006 1/8600 0/4406
?/? c.751G>A r.(?) p.(Val251Met) g.28263599C>T Copied from the Exome Variant Server OCA2_000212 8/13006 6/8600 2/4406
?/? c.796C>T r.(?) p.(Arg266Trp) g.28263554G>A Copied from the Exome Variant Server OCA2_000211 128/13004 20/8600 108/4404
?/? c.807+23A>T r.(=) p.(=) g.28263520T>A Copied from the Exome Variant Server OCA2_000210 148/13006 19/8600 129/4406
?/? c.807+30T>G r.(=) p.(=) g.28263513A>C Copied from the Exome Variant Server OCA2_000209 1/13006 1/8600 0/4406
?/? c.808-41G>A r.(=) p.(=) g.28261373C>T Copied from the Exome Variant Server OCA2_000208 1/13006 1/8600 0/4406
?/? c.819_820del r.(?) p.(Asn273Lysfs*20) g.28261320_28261321del Copied from the Exome Variant Server OCA2_000207 7/12518 0/8254 7/4264
?/? c.822_823insTC r.(?) p.(Thr275Serfs*5) g.28261317_28261318insGA Copied from the Exome Variant Server OCA2_000206 7/12518 0/8254 7/4264
?/? c.824C>T r.(?) p.(Thr275Met) g.28261316G>A Copied from the Exome Variant Server OCA2_000205 2/13006 2/8600 0/4406
?/? c.849C>T r.(=) p.(=) g.28261291G>A Copied from the Exome Variant Server OCA2_000204 2/13006 1/8600 1/4406
?/? c.890+46C>T r.(=) p.(=) g.28261204G>A Copied from the Exome Variant Server OCA2_000203 1/13006 0/8600 1/4406
?/? c.890+51G>A r.(=) p.(=) g.28261199C>T Copied from the Exome Variant Server OCA2_000202 1/13006 0/8600 1/4406
?/? c.897G>A r.(=) p.(=) g.28260069C>T Copied from the Exome Variant Server OCA2_000201 2/13006 2/8600 0/4406
?/? c.913C>T r.(?) p.(Arg305Trp) g.28260053G>A Copied from the Exome Variant Server OCA2_000200 1016/13006 426/8600 590/4406
?/? c.963G>A r.(=) p.(=) g.28260003C>T Copied from the Exome Variant Server OCA2_000199 5/13006 0/8600 5/4406
?/? c.970C>T r.(?) p.(Arg324Cys) g.28259996G>A Copied from the Exome Variant Server OCA2_000198 6/13006 0/8600 6/4406
?/? c.972C>T r.(=) p.(=) g.28259994G>A Copied from the Exome Variant Server OCA2_000197 2/13006 2/8600 0/4406
?/? c.994A>C r.(?) p.(Thr332Pro) g.28259972T>G Copied from the Exome Variant Server OCA2_000196 2/13006 0/8600 2/4406
?/? c.999C>T r.(=) p.(=) g.28259967G>A Copied from the Exome Variant Server OCA2_000195 1/13006 0/8600 1/4406
?/? c.1002G>A r.(=) p.(=) g.28259964C>T Copied from the Exome Variant Server OCA2_000194 1/13006 0/8600 1/4406
?/? c.1007C>T r.(?) p.(Ala336Val) g.28259959G>A Copied from the Exome Variant Server OCA2_000193 105/13006 0/8600 105/4406
?/? c.1014C>T r.(=) p.(=) g.28259952G>A Copied from the Exome Variant Server OCA2_000192 1/13006 1/8600 0/4406
?/? c.1015G>T r.(?) p.(Ala339Ser) g.28259951C>A Copied from the Exome Variant Server OCA2_000191 8/13006 0/8600 8/4406
?/? c.1020C>T r.(=) p.(=) g.28259946G>A Copied from the Exome Variant Server OCA2_000190 14/13006 0/8600 14/4406
?/? c.1021G>A r.(?) p.(Val341Ile) g.28259945C>T Copied from the Exome Variant Server OCA2_000189 1/13006 0/8600 1/4406
?/? c.1025A>G r.(?) p.(Tyr342Cys) g.28259941T>C Copied from the Exome Variant Server OCA2_000188 2/13006 1/8600 1/4406
?/? c.1026C>T r.(=) p.(=) g.28259940G>A Copied from the Exome Variant Server OCA2_000187 103/13006 0/8600 103/4406
?/? c.1044+5C>T r.spl? p.? g.28259917G>A Copied from the Exome Variant Server OCA2_000186 1/13006 0/8600 1/4406
?/? c.1045-39G>A r.(=) p.(=) g.28235832C>T Copied from the Exome Variant Server OCA2_000185 64/13006 53/8600 11/4406
?/? c.1045-28C>T r.(=) p.(=) g.28235821G>A Copied from the Exome Variant Server OCA2_000184 1/13006 1/8600 0/4406
?/? c.1045-26C>T r.(=) p.(=) g.28235819G>A Copied from the Exome Variant Server OCA2_000183 2/13006 1/8600 1/4406
?/? c.1065G>A r.(=) p.(=) g.28235773C>T Copied from the Exome Variant Server OCA2_000182 7789/13006 6792/8600 997/4406
?/? c.1080C>T r.(=) p.(=) g.28235758G>A Copied from the Exome Variant Server OCA2_000181 1/13006 1/8600 0/4406
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