All transcript variants in gene EXOC2

Information The variants shown are described using the NM_018303.5 transcript reference sequence.

274 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.-43-19128G>A r.(=) p.(=) g.656989C>T Copied from the Exome Variant Server EXOC2_000271 1/12828 1/8478 0/4350
?/? c.-43-19114A>C r.(=) p.(=) g.656975T>G Copied from the Exome Variant Server EXOC2_000270 1/12874 0/8502 1/4372
?/? c.-43-19112A>G r.(=) p.(=) g.656973T>C Copied from the Exome Variant Server EXOC2_000269 1/12882 1/8508 0/4374
?/? c.-43-19109C>G r.(=) p.(=) g.656970G>C Copied from the Exome Variant Server EXOC2_000268 19/12898 1/8520 18/4378
?/? c.-43-19095C>T r.(=) p.(=) g.656956G>A Copied from the Exome Variant Server EXOC2_000267 1/12908 1/8526 0/4382
?/? c.-43-19072C>T r.(=) p.(=) g.656933G>A Copied from the Exome Variant Server EXOC2_000266 3/12942 0/8558 3/4384
?/? c.-43-19069C>T r.(=) p.(=) g.656930G>A Copied from the Exome Variant Server EXOC2_000265 1/12952 1/8566 0/4386
?/? c.-43-19059G>A r.(?) p.(Gly9Ser) g.656920C>T Copied from the Exome Variant Server EXOC2_000264 1/12966 1/8572 0/4394
?/? c.-43-19049G>C r.(?) p.(Cys12Ser) g.656910C>G Copied from the Exome Variant Server EXOC2_000263 1/12990 1/8586 0/4404
?/? c.-43-19037T>G r.(?) p.(Phe16Cys) g.656898A>C Copied from the Exome Variant Server EXOC2_000262 2/12998 0/8594 2/4404
?/? c.-43-19031A>T r.(?) p.(His18Leu) g.656892T>A Copied from the Exome Variant Server EXOC2_000261 1/12998 0/8596 1/4402
?/? c.-43-19023G>C r.(?) p.(Gly21Arg) g.656884C>G Copied from the Exome Variant Server EXOC2_000260 2/13000 0/8594 2/4406
?/? c.-43-19017G>A r.(?) p.(Val23Ile) g.656878C>T Copied from the Exome Variant Server EXOC2_000259 1/13000 1/8594 0/4406
?/? c.-43-18986G>A r.(?) p.(Arg33His) g.656847C>T Copied from the Exome Variant Server EXOC2_000258 1/13000 1/8594 0/4406
?/? c.-43-18981C>G r.(?) p.(Arg35Gly) g.656842G>C Copied from the Exome Variant Server EXOC2_000257 3/12996 3/8592 0/4404
?/? c.-43-18979C>T r.(=) p.(=) g.656840G>A Copied from the Exome Variant Server EXOC2_000256 1/12996 0/8592 1/4404
?/? c.-43-18966T>C r.(?) p.(Cys40Arg) g.656827A>G Copied from the Exome Variant Server EXOC2_000255 1/12986 1/8588 0/4398
?/? c.-43-18949T>C r.(=) p.(=) g.656810A>G Copied from the Exome Variant Server EXOC2_000254 583/12952 442/8570 141/4382
?/? c.-43-18943C>T r.(=) p.(=) g.656804G>A Copied from the Exome Variant Server EXOC2_000253 1/12948 1/8566 0/4382
?/? c.-43-18881T>C r.(?) p.(Met68Thr) g.656742A>G Copied from the Exome Variant Server EXOC2_000252 1/12946 1/8560 0/4386
?/? c.-43-18865A>G r.(=) p.(=) g.656726T>C Copied from the Exome Variant Server EXOC2_000251 1/12946 1/8566 0/4380
?/? c.-43-18858G>C r.(?) p.(Asp76His) g.656719C>G Copied from the Exome Variant Server EXOC2_000250 1/12958 0/8574 1/4384
?/? c.-43-18857A>G r.(?) p.(Asp76Gly) g.656718T>C Copied from the Exome Variant Server EXOC2_000249 1/12954 0/8570 1/4384
?/? c.-43-18833C>G r.(?) p.(Ala84Gly) g.656694G>C Copied from the Exome Variant Server EXOC2_000274 11/12938 0/8552 11/4386
?/? c.-43-18825C>T r.(=) p.(=) g.656686G>A Copied from the Exome Variant Server EXOC2_000273 3/12930 0/8554 3/4376
?/? c.-43-18820C>T r.(=) p.(=) g.656681G>A Copied from the Exome Variant Server EXOC2_000245 87/12918 0/8548 87/4370
?/? c.-43-18786C>G r.(?) p.(Leu100Val) g.656647G>C Copied from the Exome Variant Server EXOC2_000243 12/12962 11/8576 1/4386
?/? c.-43-18771A>G r.(?) p.(Thr105Ala) g.656632T>C Copied from the Exome Variant Server EXOC2_000241 12/12944 0/8568 12/4376
?/? c.-43-18761G>C r.(?) p.(Arg108Pro) g.656622C>G Copied from the Exome Variant Server EXOC2_000239 7/12918 2/8550 5/4368
?/? c.-43-18724G>C r.(=) p.(=) g.656585C>G Copied from the Exome Variant Server EXOC2_000237 2/12934 0/8550 2/4384
?/? c.-43-18720C>T r.(=) p.(=) g.656581G>A Copied from the Exome Variant Server EXOC2_000272 1/12940 1/8552 0/4388
?/? c.-43-18714C>T r.(?) p.(Arg124Cys) g.656575G>A Copied from the Exome Variant Server EXOC2_000234 2/12920 2/8542 0/4378
?/? c.-43-18699G>T r.(?) p.(Val129Leu) g.656560C>A Copied from the Exome Variant Server EXOC2_000232 1/12934 0/8552 1/4382
?/? c.-43-18694C>A r.(?) p.(His130Gln) g.656555G>T Copied from the Exome Variant Server EXOC2_000248 882/12942 799/8558 83/4384
?/? c.-43-18678G>T r.(?) p.(Val136Leu) g.656539C>A Copied from the Exome Variant Server EXOC2_000247 104/12868 2/8512 102/4356
?/? c.-43-18662T>A r.(?) p.(Val141Glu) g.656523A>T Copied from the Exome Variant Server EXOC2_000246 1/12784 1/8468 0/4316
?/? c.-43-18656G>A r.(?) p.(Arg143Gln) g.656517C>T Copied from the Exome Variant Server EXOC2_000244 1/12796 1/8470 0/4326
?/? c.-43-18612C>T r.(?) p.(Arg158Cys) g.656473G>A Copied from the Exome Variant Server EXOC2_000242 5/12968 0/8572 5/4396
?/? c.-43-18555A>G r.(?) p.(Ser177Gly) g.656416T>C Copied from the Exome Variant Server EXOC2_000240 82/12998 0/8594 82/4404
?/? c.-43-18549G>A r.(?) p.(Val179Met) g.656410C>T Copied from the Exome Variant Server EXOC2_000238 2/12994 2/8592 0/4402
?/? c.-43-18509G>A r.(?) p.(Ser192Asn) g.656370C>T Copied from the Exome Variant Server EXOC2_000236 1/13006 1/8600 0/4406
?/? c.-43-18508T>C r.(=) p.(=) g.656369A>G Copied from the Exome Variant Server EXOC2_000235 6/13006 0/8600 6/4406
?/? c.-43-18491T>C r.(?) p.(Val198Ala) g.656352A>G Copied from the Exome Variant Server EXOC2_000233 1/13006 0/8600 1/4406
?/? c.-43-18489T>C r.(?) p.(Ser199Pro) g.656350A>G Copied from the Exome Variant Server EXOC2_000231 1/13006 1/8600 0/4406
?/? c.-43-18482A>G r.(?) p.(Gln201Arg) g.656343T>C Copied from the Exome Variant Server EXOC2_000230 1070/13006 668/8600 402/4406
?/? c.-43-18439G>A r.(=) p.(=) g.656300C>T Copied from the Exome Variant Server EXOC2_000229 1/13006 1/8600 0/4406
?/? c.-43-18408A>G r.(?) p.(Met226Val) g.656269T>C Copied from the Exome Variant Server EXOC2_000228 1/13006 0/8600 1/4406
?/? c.-43-18352A>C r.(?) p.(Gln244His) g.656213T>G Copied from the Exome Variant Server EXOC2_000227 2/13006 1/8600 1/4406
?/? c.-43-18326A>G r.(?) p.(Asn253Ser) g.656187T>C Copied from the Exome Variant Server EXOC2_000226 1/13006 0/8600 1/4406
?/? c.-43-18325T>C r.(=) p.(=) g.656186A>G Copied from the Exome Variant Server EXOC2_000225 25/13006 0/8600 25/4406
?/? c.-43-18315A>G r.(?) p.(Asn257Asp) g.656176T>C Copied from the Exome Variant Server EXOC2_000224 5/13006 0/8600 5/4406
?/? c.-43-18285G>T r.(?) p.(Glu267*) g.656146C>A Copied from the Exome Variant Server EXOC2_000223 1/13006 1/8600 0/4406
?/? c.-43-18282G>T r.(?) p.(Asp268Tyr) g.656143C>A Copied from the Exome Variant Server EXOC2_000222 9902/13006 7760/8600 2142/4406
?/? c.-43-18250G>A r.(=) p.(=) g.656111C>T Copied from the Exome Variant Server EXOC2_000221 1/13006 1/8600 0/4406
?/? c.-43-18235G>C r.(=) p.(=) g.656096C>G Copied from the Exome Variant Server EXOC2_000220 1/13000 0/8596 1/4404
?/? c.-43-18229A>G r.(=) p.(=) g.656090T>C Copied from the Exome Variant Server EXOC2_000219 1/12992 1/8594 0/4398
?/? c.-43-18219del r.(=) p.(=) g.656080del Copied from the Exome Variant Server EXOC2_000218 472/12432 204/8212 268/4220
?/? c.-43-18219dup r.(=) p.(=) g.656080dup Copied from the Exome Variant Server EXOC2_000217 72/12432 48/8212 24/4220
?/? c.-43-18198A>G r.(=) p.(=) g.656059T>C Copied from the Exome Variant Server EXOC2_000216 5/12588 5/8378 0/4210
?/? c.-3A>G r.(=) p.(=) g.637821T>C Copied from the Exome Variant Server EXOC2_000215 1/13006 1/8600 0/4406
?/? c.24C>G r.(=) p.(=) g.637795G>C Copied from the Exome Variant Server EXOC2_000214 14/13006 12/8600 2/4406
?/? c.108C>T r.(=) p.(=) g.637711G>A Copied from the Exome Variant Server EXOC2_000213 1/13006 0/8600 1/4406
?/? c.112C>G r.(?) p.(Leu38Val) g.637707G>C Copied from the Exome Variant Server EXOC2_000212 2/13006 2/8600 0/4406
?/? c.118+3A>G r.spl? p.? g.637698T>C Copied from the Exome Variant Server EXOC2_000211 1/13006 1/8600 0/4406
?/? c.118+4A>T r.spl? p.? g.637697T>A Copied from the Exome Variant Server EXOC2_000210 1/13006 0/8600 1/4406
?/? c.118+22C>T r.(=) p.(=) g.637679G>A Copied from the Exome Variant Server EXOC2_000209 1/13006 0/8600 1/4406
?/? c.118+23G>A r.(=) p.(=) g.637678C>T Copied from the Exome Variant Server EXOC2_000208 3/13006 0/8600 3/4406
?/? c.118+31C>G r.(=) p.(=) g.637670G>C Copied from the Exome Variant Server EXOC2_000207 8/13006 0/8600 8/4406
?/? c.118+37G>A r.(=) p.(=) g.637664C>T Copied from the Exome Variant Server EXOC2_000206 1/13006 1/8600 0/4406
?/? c.119-15T>C r.(=) p.(=) g.633132A>G Copied from the Exome Variant Server EXOC2_000205 1/13006 1/8600 0/4406
?/? c.217G>A r.(?) p.(Asp73Asn) g.633019C>T Copied from the Exome Variant Server EXOC2_000204 2/13006 2/8600 0/4406
?/? c.237G>T r.(?) p.(Lys79Asn) g.632999C>A Copied from the Exome Variant Server EXOC2_000203 1/13006 1/8600 0/4406
?/? c.255C>A r.(=) p.(=) g.632981G>T Copied from the Exome Variant Server EXOC2_000202 1/13006 0/8600 1/4406
?/? c.266C>T r.(?) p.(Ser89Phe) g.632970G>A Copied from the Exome Variant Server EXOC2_000201 1/13006 0/8600 1/4406
?/? c.276A>T r.(=) p.(=) g.632960T>A Copied from the Exome Variant Server EXOC2_000200 1/13006 0/8600 1/4406
?/? c.295+36G>A r.(=) p.(=) g.632905C>T Copied from the Exome Variant Server EXOC2_000199 1/13006 0/8600 1/4406
?/? c.295+43T>C r.(=) p.(=) g.632898A>G Copied from the Exome Variant Server EXOC2_000198 2/13006 2/8600 0/4406
?/? c.296-40_296-39insA r.(=) p.(=) g.630000_630001insT Copied from the Exome Variant Server EXOC2_000197 2/12518 0/8254 2/4264
?/? c.296-38G>C r.(=) p.(=) g.629999C>G Copied from the Exome Variant Server EXOC2_000195 1/13006 0/8600 1/4406
?/? c.296-33A>T r.(=) p.(=) g.629994T>A Copied from the Exome Variant Server EXOC2_000193 255/13006 2/8600 253/4406
?/? c.296-32T>G r.(=) p.(=) g.629993A>C Copied from the Exome Variant Server EXOC2_000191 1/13006 0/8600 1/4406
?/? c.296-14C>T r.(=) p.(=) g.629975G>A Copied from the Exome Variant Server EXOC2_000189 2/13006 2/8600 0/4406
?/? c.375G>A r.(=) p.(=) g.629882C>T Copied from the Exome Variant Server EXOC2_000187 93/13006 1/8600 92/4406
?/? c.422+24C>T r.(=) p.(=) g.629811G>A Copied from the Exome Variant Server EXOC2_000196 43/13006 36/8600 7/4406
?/? c.422+37C>A r.(=) p.(=) g.629798G>T Copied from the Exome Variant Server EXOC2_000194 1/13006 1/8600 0/4406
?/? c.423-42T>C r.(=) p.(=) g.619585A>G Copied from the Exome Variant Server EXOC2_000192 358/12978 283/8582 75/4396
?/? c.423-28A>T r.(=) p.(=) g.619571T>A Copied from the Exome Variant Server EXOC2_000190 3/13006 3/8600 0/4406
?/? c.434C>T r.(?) p.(Ser145Leu) g.619532G>A Copied from the Exome Variant Server EXOC2_000188 1/13006 1/8600 0/4406
?/? c.459C>T r.(=) p.(=) g.619507G>A Copied from the Exome Variant Server EXOC2_000186 24/13006 22/8600 2/4406
?/? c.471T>C r.(=) p.(=) g.619495A>G Copied from the Exome Variant Server EXOC2_000185 2/13006 2/8600 0/4406
?/? c.509A>G r.(?) p.(Tyr170Cys) g.619457T>C Copied from the Exome Variant Server EXOC2_000184 1/13006 1/8600 0/4406
?/? c.515T>C r.(?) p.(Ile172Thr) g.619451A>G Copied from the Exome Variant Server EXOC2_000183 1/13006 1/8600 0/4406
?/? c.536+11A>G r.(=) p.(=) g.619419T>C Copied from the Exome Variant Server EXOC2_000182 2/13006 0/8600 2/4406
?/? c.537-31G>A r.(=) p.(=) g.617866C>T Copied from the Exome Variant Server EXOC2_000181 73/13006 0/8600 73/4406
?/? c.551A>C r.(?) p.(Lys184Thr) g.617821T>G Copied from the Exome Variant Server EXOC2_000180 1/13006 1/8600 0/4406
?/? c.572A>G r.(?) p.(Lys191Arg) g.617800T>C Copied from the Exome Variant Server EXOC2_000179 1/13006 0/8600 1/4406
?/? c.639C>T r.(=) p.(=) g.617733G>A Copied from the Exome Variant Server EXOC2_000178 2/13006 2/8600 0/4406
?/? c.661+43G>A r.(=) p.(=) g.617668C>T Copied from the Exome Variant Server EXOC2_000177 524/13006 292/8600 232/4406
?/? c.661+50C>T r.(=) p.(=) g.617661G>A Copied from the Exome Variant Server EXOC2_000176 17/13006 2/8600 15/4406
?/? c.662-5_662-4insT r.spl? p.? g.610182_610183insA Copied from the Exome Variant Server EXOC2_000175 3/12514 2/8254 1/4260
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