Full data view for gene NOTCH2

Information The variants shown are described using the NM_024408.3 transcript reference sequence.

321 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     

Template     

Technique     

Disease     

Reference     

Remarks     

Panel size     

Owner     
?/? c.-29_-27del r.(=) p.(=) g.120612047_120612049del Copied from the Exome Variant Server NOTCH2_000318 92/9136 48/6364 44/2772 - - - - - - -
?/? c.-23_-22insGGCGGAGGA r.(=) p.(=) g.120612042_120612043insTCCTCCGCC Copied from the Exome Variant Server NOTCH2_000319 611/9136 525/6364 86/2772 - - - - - - -
?/? c.-23_-22insGGCGGCGGA r.(=) p.(=) g.120612042_120612043insTCCGCCGCC Copied from the Exome Variant Server NOTCH2_000316 171/9136 141/6364 30/2772 - - - - - - -
?/? c.-23_-22insGGCGGCGGCGGA r.(=) p.(=) g.120612042_120612043insTCCGCCGCCGCC Copied from the Exome Variant Server NOTCH2_000314 2513/9136 1814/6364 699/2772 - - - - - - -
?/? c.-29_-21del r.(=) p.(=) g.120612041_120612049del Copied from the Exome Variant Server NOTCH2_000312 334/9136 202/6364 132/2772 - - - - - - -
?/? c.-26_-18del r.(=) p.(=) g.120612038_120612046del Copied from the Exome Variant Server NOTCH2_000310 424/9806 273/6726 151/3080 - - - - - - -
?/? c.194G>A r.(?) p.(Arg65Gln) g.120548173C>T Copied from the Exome Variant Server NOTCH2_000308 2/12960 1/8556 1/4404 - - - - - - -
?/? c.215G>A r.(?) p.(Arg72His) g.120548152C>T Copied from the Exome Variant Server NOTCH2_000306 2/12960 1/8556 1/4404 - - - - - - -
?/? c.266C>T r.(?) p.(Thr89Met) g.120548101G>A Copied from the Exome Variant Server NOTCH2_000304 2/13002 0/8596 2/4406 - - - - - - -
?/? c.272G>T r.(?) p.(Arg91Leu) g.120548095C>A Copied from the Exome Variant Server NOTCH2_000302 104/13006 92/8600 12/4406 - - - - - - -
?/? c.278C>T r.(?) p.(Ala93Val) g.120548089G>A Copied from the Exome Variant Server NOTCH2_000300 1/13006 1/8600 0/4406 - - - - - - -
?/? c.338G>C r.(?) p.(Arg113Pro) g.120548029C>G Copied from the Exome Variant Server NOTCH2_000317 3/13006 0/8600 3/4406 - - - - - - -
?/? c.354C>T r.(=) p.(=) g.120548013G>A Copied from the Exome Variant Server NOTCH2_000315 3/13006 0/8600 3/4406 - - - - - - -
?/? c.377G>A r.(?) p.(Arg126Gln) g.120547990C>T Copied from the Exome Variant Server NOTCH2_000313 4/13006 3/8600 1/4406 - - - - - - -
?/? c.415+43G>T r.(=) p.(=) g.120547909C>A Copied from the Exome Variant Server NOTCH2_000311 47/13006 43/8600 4/4406 - - - - - - -
?/? c.423G>A r.(=) p.(=) g.120539948C>T Copied from the Exome Variant Server NOTCH2_000309 11/12998 2/8596 9/4402 - - - - - - -
?/? c.429A>G r.(=) p.(=) g.120539942T>C Copied from the Exome Variant Server NOTCH2_000307 1/12998 1/8596 0/4402 - - - - - - -
?/? c.434C>T r.(?) p.(Thr145Met) g.120539937G>A Copied from the Exome Variant Server NOTCH2_000305 3/12998 2/8596 1/4402 - - - - - - -
?/? c.456C>T r.(=) p.(=) g.120539915G>A Copied from the Exome Variant Server NOTCH2_000303 46/13000 1/8598 45/4402 - - - - - - -
?/? c.483T>C r.(=) p.(=) g.120539888A>G Copied from the Exome Variant Server NOTCH2_000301 1/12998 0/8594 1/4404 - - - - - - -
?/? c.492C>A r.(?) p.(Asn164Lys) g.120539879G>T Copied from the Exome Variant Server NOTCH2_000299 3/12998 0/8594 3/4404 - - - - - - -
?/? c.524C>T r.(?) p.(Thr175Ile) g.120539847G>A Copied from the Exome Variant Server NOTCH2_000298 1/13006 1/8600 0/4406 - - - - - - -
?/? c.545A>T r.(?) p.(Asp182Val) g.120539826T>A Copied from the Exome Variant Server NOTCH2_000297 3/13004 0/8600 3/4404 - - - - - - -
?/? c.590C>A r.(?) p.(Thr197Asn) g.120539781G>T Copied from the Exome Variant Server NOTCH2_000296 1/13002 1/8598 0/4404 - - - - - - -
?/? c.646C>G r.(?) p.(Gln216Glu) g.120539725G>C Copied from the Exome Variant Server NOTCH2_000295 1/13006 0/8600 1/4406 - - - - - - -
?/? c.651C>T r.(=) p.(=) g.120539720G>A Copied from the Exome Variant Server NOTCH2_000294 1/13006 1/8600 0/4406 - - - - - - -
?/? c.663G>A r.(=) p.(=) g.120539708C>T Copied from the Exome Variant Server NOTCH2_000293 1/13006 0/8600 1/4406 - - - - - - -
?/? c.680C>A r.(?) p.(Pro227His) g.120539691G>T Copied from the Exome Variant Server NOTCH2_000292 1/13006 0/8600 1/4406 - - - - - - -
?/? c.695A>G r.(?) p.(Asn232Ser) g.120539676T>C Copied from the Exome Variant Server NOTCH2_000291 2/13004 2/8598 0/4406 - - - - - - -
?/? c.704C>T r.(?) p.(Thr235Ile) g.120539667G>A Copied from the Exome Variant Server NOTCH2_000290 1/13004 0/8598 1/4406 - - - - - - -
?/? c.710G>A r.(?) p.(Arg237Gln) g.120539661C>T Copied from the Exome Variant Server NOTCH2_000289 1/13004 1/8600 0/4404 - - - - - - -
?/? c.716C>T r.(?) p.(Thr239Ile) g.120539655G>A Copied from the Exome Variant Server NOTCH2_000288 1/13004 0/8600 1/4404 - - - - - - -
?/? c.717T>C r.(=) p.(=) g.120539654A>G Copied from the Exome Variant Server NOTCH2_000287 1/13004 0/8600 1/4404 - - - - - - -
?/? c.751+23A>G r.(=) p.(=) g.120539597T>C Copied from the Exome Variant Server NOTCH2_000286 6/11666 0/7752 6/3914 - - - - - - -
?/? c.751+50G>A r.(=) p.(=) g.120539570C>T Copied from the Exome Variant Server NOTCH2_000285 4/12876 4/8516 0/4360 - - - - - - -
?/? c.751+215G>A r.(=) p.(=) g.120539405C>T Copied from the Exome Variant Server NOTCH2_000284 1/5730 1/3978 0/1752 - - - - - - -
?/? c.751+314G>C r.(=) p.(=) g.120539306C>G Copied from the Exome Variant Server NOTCH2_000283 1/5734 0/3982 1/1752 - - - - - - -
?/? c.751+319C>T r.(=) p.(=) g.120539301G>A Copied from the Exome Variant Server NOTCH2_000282 188/5734 24/3982 164/1752 - - - - - - -
?/? c.752-45T>G r.(=) p.(=) g.120529750A>C Copied from the Exome Variant Server NOTCH2_000281 2275/13006 882/8600 1393/4406 - - - - - - -
?/? c.853C>T r.(?) p.(Arg285Cys) g.120529604G>A Copied from the Exome Variant Server NOTCH2_000280 1/13006 1/8600 0/4406 - - - - - - -
?/? c.859C>G r.(?) p.(Pro287Ala) g.120529598G>C Copied from the Exome Variant Server NOTCH2_000279 1/13006 1/8600 0/4406 - - - - - - -
?/? c.881T>A r.(?) p.(Phe294Tyr) g.120512361A>T Copied from the Exome Variant Server NOTCH2_000278 1/13006 0/8600 1/4406 - - - - - - -
?/? c.939C>T r.(=) p.(=) g.120512303G>A Copied from the Exome Variant Server NOTCH2_000277 349/13006 3/8600 346/4406 - - - - - - -
?/? c.946G>T r.(?) p.(Ala316Ser) g.120512296C>A Copied from the Exome Variant Server NOTCH2_000276 4/13006 0/8600 4/4406 - - - - - - -
?/? c.956A>G r.(?) p.(Asn319Ser) g.120512286T>C Copied from the Exome Variant Server NOTCH2_000275 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1108+14G>A r.(=) p.(=) g.120512120C>T Copied from the Exome Variant Server NOTCH2_000274 13/13006 11/8600 2/4406 - - - - - - -
?/? c.1108+17C>T r.(=) p.(=) g.120512117G>A Copied from the Exome Variant Server NOTCH2_000273 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1108+30A>G r.(=) p.(=) g.120512104T>C Copied from the Exome Variant Server NOTCH2_000272 12662/13006 8594/8600 4068/4406 - - - - - - -
?/? c.1109-39C>A r.(=) p.(=) g.120510894G>T Copied from the Exome Variant Server NOTCH2_000271 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1109-35T>A r.(=) p.(=) g.120510890A>T Copied from the Exome Variant Server NOTCH2_000270 4/13006 4/8600 0/4406 - - - - - - -
?/? c.1109-26T>G r.(=) p.(=) g.120510881A>C Copied from the Exome Variant Server NOTCH2_000269 32/13006 0/8600 32/4406 - - - - - - -
?/? c.1109-24G>A r.(=) p.(=) g.120510879C>T Copied from the Exome Variant Server NOTCH2_000268 4/13006 4/8600 0/4406 - - - - - - -
?/? c.1138A>G r.(?) p.(Ile380Val) g.120510826T>C Copied from the Exome Variant Server NOTCH2_000266 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1228G>T r.(?) p.(Ala410Ser) g.120510736C>A Copied from the Exome Variant Server NOTCH2_000320 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1248G>A r.(=) p.(=) g.120510716C>T Copied from the Exome Variant Server NOTCH2_000262 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1274A>G r.(?) p.(Asn425Ser) g.120510235T>C Copied from the Exome Variant Server NOTCH2_000260 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1287T>C r.(=) p.(=) g.120510222A>G Copied from the Exome Variant Server NOTCH2_000258 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1315G>A r.(?) p.(Ala439Thr) g.120510194C>T Copied from the Exome Variant Server NOTCH2_000256 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1396C>A r.(?) p.(Gln466Lys) g.120510113G>T Copied from the Exome Variant Server NOTCH2_000254 3/13006 3/8600 0/4406 - - - - - - -
?/? c.1453+6T>C r.(=) p.(=) g.120510050A>G Copied from the Exome Variant Server NOTCH2_000252 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1453+21G>T r.(=) p.(=) g.120510035C>A Copied from the Exome Variant Server NOTCH2_000250 3/13006 0/8600 3/4406 - - - - - - -
?/? c.1453+24G>C r.(=) p.(=) g.120510032C>G Copied from the Exome Variant Server NOTCH2_000267 12/13006 0/8600 12/4406 - - - - - - -
?/? c.1453+44G>A r.(=) p.(=) g.120510012C>T Copied from the Exome Variant Server NOTCH2_000265 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1454-48T>C r.(=) p.(=) g.120509160A>G Copied from the Exome Variant Server NOTCH2_000264 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1541A>G r.(?) p.(Asn514Ser) g.120509025T>C Copied from the Exome Variant Server NOTCH2_000263 9/13006 0/8600 9/4406 - - - - - - -
?/? c.1554C>T r.(=) p.(=) g.120509012G>A Copied from the Exome Variant Server NOTCH2_000261 2/13006 0/8600 2/4406 - - - - - - -
?/? c.1557G>A r.(=) p.(=) g.120509009C>T Copied from the Exome Variant Server NOTCH2_000259 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1567+8C>T r.(=) p.(=) g.120508991G>A Copied from the Exome Variant Server NOTCH2_000257 13/13006 11/8600 2/4406 - - - - - - -
?/? c.1567+12C>T r.(=) p.(=) g.120508987G>A Copied from the Exome Variant Server NOTCH2_000255 35/13006 5/8600 30/4406 - - - - - - -
?/? c.1568-46A>G r.(=) p.(=) g.120508235T>C Copied from the Exome Variant Server NOTCH2_000253 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1568-17C>T r.(=) p.(=) g.120508206G>A Copied from the Exome Variant Server NOTCH2_000251 22/13006 22/8600 0/4406 - - - - - - -
?/? c.1620G>A r.(=) p.(=) g.120508137C>T Copied from the Exome Variant Server NOTCH2_000249 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1635A>G r.(=) p.(=) g.120508122T>C Copied from the Exome Variant Server NOTCH2_000248 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1653G>A r.(=) p.(=) g.120508104C>T Copied from the Exome Variant Server NOTCH2_000247 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1681+38C>T r.(=) p.(=) g.120508038G>A Copied from the Exome Variant Server NOTCH2_000246 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1692T>C r.(=) p.(=) g.120506420A>G Copied from the Exome Variant Server NOTCH2_000245 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1698G>T r.(?) p.(Leu566Phe) g.120506414C>A Copied from the Exome Variant Server NOTCH2_000244 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1803C>T r.(=) p.(=) g.120506309G>A Copied from the Exome Variant Server NOTCH2_000243 2/13006 0/8600 2/4406 - - - - - - -
?/? c.1804G>A r.(?) p.(Ala602Thr) g.120506308C>T Copied from the Exome Variant Server NOTCH2_000242 6/13006 5/8600 1/4406 - - - - - - -
?/? c.1911G>A r.(=) p.(=) g.120506201C>T Copied from the Exome Variant Server NOTCH2_000241 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1915+12C>T r.(=) p.(=) g.120506185G>A Copied from the Exome Variant Server NOTCH2_000240 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1915+27A>T r.(=) p.(=) g.120506170T>A Copied from the Exome Variant Server NOTCH2_000239 2/13006 0/8600 2/4406 - - - - - - -
?/? c.1915+44T>C r.(=) p.(=) g.120506153A>G Copied from the Exome Variant Server NOTCH2_000238 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1916-31T>C r.(=) p.(=) g.120502156A>G Copied from the Exome Variant Server NOTCH2_000237 3/13006 1/8600 2/4406 - - - - - - -
?/? c.1916-20C>T r.(=) p.(=) g.120502145G>A Copied from the Exome Variant Server NOTCH2_000236 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1916-19G>A r.(=) p.(=) g.120502144C>T Copied from the Exome Variant Server NOTCH2_000235 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1923T>C r.(=) p.(=) g.120502118A>G Copied from the Exome Variant Server NOTCH2_000234 1/13006 0/8600 1/4406 - - - - - - -
?/? c.2016A>G r.(=) p.(=) g.120502025T>C Copied from the Exome Variant Server NOTCH2_000233 1/13006 0/8600 1/4406 - - - - - - -
?/? c.2027-41_2027-38del r.(=) p.(=) g.120497893_120497896del Copied from the Exome Variant Server NOTCH2_000232 1/12520 1/8254 0/4266 - - - - - - -
?/? c.2027-30T>A r.(=) p.(=) g.120497885A>T Copied from the Exome Variant Server NOTCH2_000231 1/13006 1/8600 0/4406 - - - - - - -
?/? c.2063C>T r.(?) p.(Ser688Phe) g.120497819G>A Copied from the Exome Variant Server NOTCH2_000230 2/13006 2/8600 0/4406 - - - - - - -
?/? c.2086A>G r.(?) p.(Thr696Ala) g.120497796T>C Copied from the Exome Variant Server NOTCH2_000229 1/13006 1/8600 0/4406 - - - - - - -
?/? c.2092A>G r.(?) p.(Ile698Val) g.120497790T>C Copied from the Exome Variant Server NOTCH2_000228 1/13006 0/8600 1/4406 - - - - - - -
?/? c.2127C>T r.(=) p.(=) g.120497755G>A Copied from the Exome Variant Server NOTCH2_000227 1/13006 0/8600 1/4406 - - - - - - -
?/? c.2219+12C>T r.(=) p.(=) g.120497651G>A Copied from the Exome Variant Server NOTCH2_000226 1/13006 1/8600 0/4406 - - - - - - -
?/? c.2219+31A>G r.(=) p.(=) g.120497632T>C Copied from the Exome Variant Server NOTCH2_000225 3/13006 3/8600 0/4406 - - - - - - -
?/? c.2220-41C>A r.(=) p.(=) g.120496352G>T Copied from the Exome Variant Server NOTCH2_000224 6/13006 1/8600 5/4406 - - - - - - -
?/? c.2220-32C>T r.(=) p.(=) g.120496343G>A Copied from the Exome Variant Server NOTCH2_000223 2/13006 2/8600 0/4406 - - - - - - -
?/? c.2220-11T>C r.(=) p.(=) g.120496322A>G Copied from the Exome Variant Server NOTCH2_000222 2/13006 0/8600 2/4406 - - - - - - -
?/? c.2295A>G r.(=) p.(=) g.120496236T>C Copied from the Exome Variant Server NOTCH2_000221 1/13006 1/8600 0/4406 - - - - - - -
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