All transcript variants in gene NOTCH3

Information The variants shown are described using the NM_000435.2 transcript reference sequence.

341 entries on 4 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.96_98del r.(?) p.(Leu33del) g.15311619_15311621del Copied from the Exome Variant Server NOTCH3_000341 35/6464 29/4462 6/2002
?/? c.119-4A>G r.spl? p.? g.15308393T>C Copied from the Exome Variant Server NOTCH3_000340 1/12912 1/8534 0/4378
?/? c.120C>G r.(=) p.(=) g.15308388G>C Copied from the Exome Variant Server NOTCH3_000339 3/12960 3/8570 0/4390
?/? c.124C>G r.(?) p.(Pro42Ala) g.15308384G>C Copied from the Exome Variant Server NOTCH3_000338 1/12974 1/8578 0/4396
?/? c.133G>C r.(?) p.(Asp45His) g.15308375C>G Copied from the Exome Variant Server NOTCH3_000337 3/12990 3/8592 0/4398
?/? c.135C>T r.(=) p.(=) g.15308373G>A Copied from the Exome Variant Server NOTCH3_000336 1/12992 1/8592 0/4400
?/? c.154G>A r.(?) p.(Gly52Arg) g.15308354C>T Copied from the Exome Variant Server NOTCH3_000335 3/13004 3/8600 0/4404
?/? c.180C>T r.(=) p.(=) g.15308328G>A Copied from the Exome Variant Server NOTCH3_000334 1/12988 1/8588 0/4400
?/? c.181C>T r.(?) p.(Arg61Trp) g.15308327G>A Copied from the Exome Variant Server NOTCH3_000333 5/12988 4/8588 1/4400
?/? c.191C>A r.(?) p.(Ala64Asp) g.15308317G>T Copied from the Exome Variant Server NOTCH3_000332 8/12956 0/8566 8/4390
?/? c.197+23C>A r.(=) p.(=) g.15308288G>T Copied from the Exome Variant Server NOTCH3_000331 43/12822 36/8476 7/4346
?/? c.197+24C>G r.(=) p.(=) g.15308287G>C Copied from the Exome Variant Server NOTCH3_000330 86/12812 46/8476 40/4336
?/? c.197+45G>A r.(=) p.(=) g.15308266C>T Copied from the Exome Variant Server NOTCH3_000329 3/12352 3/8184 0/4168
?/? c.197+53del r.(=) p.(=) g.15308258del Copied from the Exome Variant Server NOTCH3_000328 86/11016 62/7342 24/3674
?/? c.203C>T r.(?) p.(Pro68Leu) g.15303325G>A Copied from the Exome Variant Server NOTCH3_000327 7/12922 7/8564 0/4358
?/? c.224G>A r.(?) p.(Arg75Gln) g.15303304C>T Copied from the Exome Variant Server NOTCH3_000326 2/12970 0/8580 2/4390
?/? c.276C>T r.(=) p.(=) g.15303252G>A Copied from the Exome Variant Server NOTCH3_000325 1/12996 0/8594 1/4402
?/? c.298G>A r.(?) p.(Gly100Ser) g.15303230C>T Copied from the Exome Variant Server NOTCH3_000324 1/12976 1/8580 0/4396
?/? c.303C>T r.(=) p.(=) g.15303225G>A Copied from the Exome Variant Server NOTCH3_000323 2381/12982 1262/8584 1119/4398
?/? c.338G>A r.(?) p.(Arg113Gln) g.15303190C>T Copied from the Exome Variant Server NOTCH3_000322 6/12996 6/8592 0/4404
?/? c.340+14A>G r.(=) p.(=) g.15303174T>C Copied from the Exome Variant Server NOTCH3_000321 5/13004 5/8598 0/4406
?/? c.390C>T r.(=) p.(=) g.15303060G>A Copied from the Exome Variant Server NOTCH3_000320 2/12972 2/8582 0/4390
?/? c.398G>A r.(?) p.(Arg133His) g.15303052C>T Copied from the Exome Variant Server NOTCH3_000319 1/12980 0/8590 1/4390
?/? c.451C>G r.(?) p.(Gln151Glu) g.15302999G>C Copied from the Exome Variant Server NOTCH3_000318 1/12982 1/8586 0/4396
?/? c.467G>A r.(?) p.(Arg156Gln) g.15302983C>T Copied from the Exome Variant Server NOTCH3_000317 1/12992 0/8588 1/4404
?/? c.487C>T r.(?) p.(Arg163Trp) g.15302963G>A Copied from the Exome Variant Server NOTCH3_000316 1/12994 0/8590 1/4404
?/? c.509A>G r.(?) p.(His170Arg) g.15302941T>C Copied from the Exome Variant Server NOTCH3_000315 14/13004 13/8598 1/4406
?/? c.536G>T r.(?) p.(Gly179Val) g.15302914C>A Copied from the Exome Variant Server NOTCH3_000314 8/13006 0/8600 8/4406
?/? c.591C>T r.(=) p.(=) g.15302859G>A Copied from the Exome Variant Server NOTCH3_000313 1/13006 1/8600 0/4406
?/? c.592G>A r.(?) p.(Ala198Thr) g.15302858C>T Copied from the Exome Variant Server NOTCH3_000312 1/13006 1/8600 0/4406
?/? c.593C>T r.(?) p.(Ala198Val) g.15302857G>A Copied from the Exome Variant Server NOTCH3_000311 2/13006 2/8600 0/4406
?/? c.606A>G r.(=) p.(=) g.15302844T>C Copied from the Exome Variant Server NOTCH3_000310 11566/13006 7547/8600 4019/4406
?/? c.624C>T r.(=) p.(=) g.15302826G>A Copied from the Exome Variant Server NOTCH3_000309 1/13006 1/8600 0/4406
?/? c.648C>T r.(=) p.(=) g.15302802G>A Copied from the Exome Variant Server NOTCH3_000308 1/13004 1/8600 0/4404
?/? c.660C>T r.(=) p.(=) g.15302790G>A Copied from the Exome Variant Server NOTCH3_000307 13/13006 13/8600 0/4406
?/? c.679+3G>T r.spl? p.? g.15302768C>A Copied from the Exome Variant Server NOTCH3_000306 1/13006 0/8600 1/4406
?/? c.679+33_679+34insG r.(=) p.(=) g.15302737_15302738insC Copied from the Exome Variant Server NOTCH3_000305 2/12518 1/8254 1/4264
?/? c.679+38C>T r.(=) p.(=) g.15302733G>A Copied from the Exome Variant Server NOTCH3_000304 1/13006 1/8600 0/4406
?/? c.679+39G>A r.(=) p.(=) g.15302732C>T Copied from the Exome Variant Server NOTCH3_000303 5/13006 5/8600 0/4406
?/? c.680-31C>G r.(=) p.(=) g.15302709G>C Copied from the Exome Variant Server NOTCH3_000302 1/13006 1/8600 0/4406
?/? c.680-30G>A r.(=) p.(=) g.15302708C>T Copied from the Exome Variant Server NOTCH3_000301 3/13006 1/8600 2/4406
?/? c.714C>T r.(=) p.(=) g.15302644G>A Copied from the Exome Variant Server NOTCH3_000300 1/13006 1/8600 0/4406
?/? c.740A>G r.(?) p.(Asn247Ser) g.15302618T>C Copied from the Exome Variant Server NOTCH3_000299 2/13006 1/8600 1/4406
?/? c.743G>T r.(?) p.(Gly248Val) g.15302615C>A Copied from the Exome Variant Server NOTCH3_000298 2/13006 1/8600 1/4406
?/? c.771C>A r.(=) p.(=) g.15302587G>T Copied from the Exome Variant Server NOTCH3_000297 1/13006 1/8600 0/4406
?/? c.802+25G>A r.(=) p.(=) g.15302531C>T Copied from the Exome Variant Server NOTCH3_000296 6/13006 0/8600 6/4406
?/? c.802+37C>A r.(=) p.(=) g.15302519G>T Copied from the Exome Variant Server NOTCH3_000295 1/13006 1/8600 0/4406
?/? c.803-40A>T r.(=) p.(=) g.15302508T>A Copied from the Exome Variant Server NOTCH3_000294 1/13006 1/8600 0/4406
?/? c.803-34C>T r.(=) p.(=) g.15302502G>A Copied from the Exome Variant Server NOTCH3_000293 1/13006 1/8600 0/4406
?/? c.825G>A r.(=) p.(=) g.15302446C>T Copied from the Exome Variant Server NOTCH3_000292 1/13004 1/8600 0/4404
?/? c.831G>A r.(=) p.(=) g.15302440C>T Copied from the Exome Variant Server NOTCH3_000291 2/13004 2/8600 0/4404
?/? c.850G>A r.(?) p.(Ala284Thr) g.15302421C>T Copied from the Exome Variant Server NOTCH3_000290 5/13004 4/8600 1/4404
?/? c.881C>T r.(?) p.(Thr294Met) g.15302390G>A Copied from the Exome Variant Server NOTCH3_000289 2/13004 0/8600 2/4404
?/? c.884T>G r.(?) p.(Leu295Arg) g.15302387A>C Copied from the Exome Variant Server NOTCH3_000288 8/13004 6/8600 2/4404
?/? c.945C>T r.(=) p.(=) g.15302326G>A Copied from the Exome Variant Server NOTCH3_000287 4/13004 4/8598 0/4406
?/? c.964G>A r.(?) p.(Val322Met) g.15302307C>T Copied from the Exome Variant Server NOTCH3_000286 4/13006 3/8600 1/4406
?/? c.1024A>G r.(?) p.(Met342Val) g.15302247T>C Copied from the Exome Variant Server NOTCH3_000285 1/13006 1/8600 0/4406
?/? c.1037-10C>A r.(=) p.(=) g.15300249G>T Copied from the Exome Variant Server NOTCH3_000284 1/13006 1/8600 0/4406
?/? c.1140T>C r.(=) p.(=) g.15300136A>G Copied from the Exome Variant Server NOTCH3_000283 410/13006 327/8600 83/4406
?/? c.1175T>A r.(?) p.(Val392Glu) g.15300101A>T Copied from the Exome Variant Server NOTCH3_000282 1/13006 1/8600 0/4406
?/? c.1189A>G r.(?) p.(Ile397Val) g.15300087T>C Copied from the Exome Variant Server NOTCH3_000281 1/13006 0/8600 1/4406
?/? c.1191C>T r.(=) p.(=) g.15300085G>A Copied from the Exome Variant Server NOTCH3_000280 1/13006 1/8600 0/4406
?/? c.1192+15A>G r.(=) p.(=) g.15300069T>C Copied from the Exome Variant Server NOTCH3_000279 11563/13006 7541/8600 4022/4406
?/? c.1192+25A>T r.(=) p.(=) g.15300059T>A Copied from the Exome Variant Server NOTCH3_000278 1/13006 1/8600 0/4406
?/? c.1192+33G>A r.(=) p.(=) g.15300051C>T Copied from the Exome Variant Server NOTCH3_000277 1/13006 0/8600 1/4406
?/? c.1193-26C>A r.(=) p.(=) g.15300011G>T Copied from the Exome Variant Server NOTCH3_000276 1/13006 1/8600 0/4406
?/? c.1194C>T r.(=) p.(=) g.15299984G>A Copied from the Exome Variant Server NOTCH3_000275 3/13006 0/8600 3/4406
?/? c.1320C>T r.(=) p.(=) g.15299858G>A Copied from the Exome Variant Server NOTCH3_000274 1/13006 1/8600 0/4406
?/? c.1375G>A r.(?) p.(Ala459Thr) g.15299803C>T Copied from the Exome Variant Server NOTCH3_000273 1/13004 0/8598 1/4406
?/? c.1378+19C>T r.(=) p.(=) g.15299781G>A Copied from the Exome Variant Server NOTCH3_000272 2/12976 2/8580 0/4396
?/? c.1378+43C>T r.(=) p.(=) g.15299757G>A Copied from the Exome Variant Server NOTCH3_000271 1/12828 0/8496 1/4332
?/? c.1379-30C>T r.(=) p.(=) g.15299189G>A Copied from the Exome Variant Server NOTCH3_000270 1/13000 1/8598 0/4402
?/? c.1466A>G r.(?) p.(Asn489Ser) g.15299072T>C Copied from the Exome Variant Server NOTCH3_000269 1/13002 0/8596 1/4406
?/? c.1469G>C r.(?) p.(Gly490Ala) g.15299069C>G Copied from the Exome Variant Server NOTCH3_000268 1/13002 1/8596 0/4406
?/? c.1487C>T r.(?) p.(Pro496Leu) g.15299051G>A Copied from the Exome Variant Server NOTCH3_000267 202/13002 185/8596 17/4406
?/? c.1490C>T r.(?) p.(Ser497Leu) g.15299048G>A Copied from the Exome Variant Server NOTCH3_000266 98/13002 52/8596 46/4406
?/? c.1492+16G>C r.(=) p.(=) g.15299030C>G Copied from the Exome Variant Server NOTCH3_000265 1/12996 1/8594 0/4402
?/? c.1545C>G r.(=) p.(=) g.15298753G>C Copied from the Exome Variant Server NOTCH3_000264 1/10864 1/7092 0/3772
?/? c.1607-26G>A r.(=) p.(=) g.15298175C>T Copied from the Exome Variant Server NOTCH3_000263 1/13006 1/8600 0/4406
?/? c.1607-5C>A r.spl? p.? g.15298154G>T Copied from the Exome Variant Server NOTCH3_000262 14/13006 0/8600 14/4406
?/? c.1620G>T r.(=) p.(=) g.15298136C>A Copied from the Exome Variant Server NOTCH3_000261 2/13006 2/8600 0/4406
?/? c.1677C>T r.(=) p.(=) g.15298079G>A Copied from the Exome Variant Server NOTCH3_000260 2/13006 0/8600 2/4406
?/? c.1690G>A r.(?) p.(Ala564Thr) g.15298066C>T Copied from the Exome Variant Server NOTCH3_000259 3/13006 3/8600 0/4406
?/? c.1724C>T r.(?) p.(Thr575Met) g.15298032G>A Copied from the Exome Variant Server NOTCH3_000258 1/13006 0/8600 1/4406
?/? c.1725G>A r.(=) p.(=) g.15298031C>T Copied from the Exome Variant Server NOTCH3_000257 109/13006 101/8600 8/4406
?/? c.1729A>G r.(?) p.(Thr577Ala) g.15298027T>C Copied from the Exome Variant Server NOTCH3_000256 1/13006 1/8600 0/4406
?/? c.1749G>A r.(=) p.(=) g.15298007C>T Copied from the Exome Variant Server NOTCH3_000255 2/13006 1/8600 1/4406
?/? c.1760G>A r.(?) p.(Arg587His) g.15297996C>T Copied from the Exome Variant Server NOTCH3_000254 2/13004 1/8598 1/4406
?/? c.1782C>T r.(=) p.(=) g.15297974G>A Copied from the Exome Variant Server NOTCH3_000253 166/13006 4/8600 162/4406
?/? c.1840+8C>T r.(=) p.(=) g.15297908G>A Copied from the Exome Variant Server NOTCH3_000252 1/13004 1/8598 0/4406
?/? c.1840+33C>G r.(=) p.(=) g.15297883G>C Copied from the Exome Variant Server NOTCH3_000251 3/13004 3/8598 0/4406
?/? c.1841-22A>G r.(=) p.(=) g.15297821T>C Copied from the Exome Variant Server NOTCH3_000250 2/13006 0/8600 2/4406
?/? c.1854A>G r.(=) p.(=) g.15297786T>C Copied from the Exome Variant Server NOTCH3_000249 1/13006 1/8600 0/4406
?/? c.1917C>A r.(?) p.(Asn639Lys) g.15297723G>T Copied from the Exome Variant Server NOTCH3_000248 1/13006 0/8600 1/4406
?/? c.1919G>A r.(?) p.(Arg640His) g.15297721C>T Copied from the Exome Variant Server NOTCH3_000247 3/13006 0/8600 3/4406
?/? c.1920C>T r.(=) p.(=) g.15297720G>A Copied from the Exome Variant Server NOTCH3_000246 1/13006 1/8600 0/4406
?/? c.1931T>A r.(?) p.(Val644Asp) g.15297709A>T Copied from the Exome Variant Server NOTCH3_000245 9/13006 8/8600 1/4406
?/? c.1944C>T r.(=) p.(=) g.15297696G>A Copied from the Exome Variant Server NOTCH3_000244 1/13006 1/8600 0/4406
?/? c.1951+27G>T r.(=) p.(=) g.15297662C>A Copied from the Exome Variant Server NOTCH3_000243 1/13006 0/8600 1/4406
?/? c.1951+38C>G r.(=) p.(=) g.15297651G>C Copied from the Exome Variant Server NOTCH3_000242 79/13006 0/8600 79/4406
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