Full data view for gene CREBBP

Information The variants shown are described using the NM_004380.2 transcript reference sequence.

433 entries on 5 pages. Showing entries 1 - 100.
Legend   « First ‹ Prev     1 2 3 4 5     Next › Last »

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.-30G>T r.(=) p.(=) g.3929947C>A Copied from the Exome Variant Server CREBBP_000433 2/12972 0/8590 2/4382 - - - - - - -
?/? c.-24G>A r.(=) p.(=) g.3929941C>T Copied from the Exome Variant Server CREBBP_000432 51/12992 0/8600 51/4392 - - - - - - -
?/? c.-15C>G r.(=) p.(=) g.3929932G>C Copied from the Exome Variant Server CREBBP_000431 1/12994 0/8600 1/4394 - - - - - - -
?/? c.-14G>A r.(=) p.(=) g.3929931C>T Copied from the Exome Variant Server CREBBP_000430 1/12994 1/8600 0/4394 - - - - - - -
?/? c.21C>T r.(=) p.(=) g.3929897G>A Copied from the Exome Variant Server CREBBP_000429 1/12994 0/8600 1/4394 - - - - - - -
?/? c.26C>T r.(?) p.(Pro9Leu) g.3929892G>A Copied from the Exome Variant Server CREBBP_000428 1/12994 0/8600 1/4394 - - - - - - -
?/? c.39A>G r.(=) p.(=) g.3929879T>C Copied from the Exome Variant Server CREBBP_000427 2/12994 1/8600 1/4394 - - - - - - -
?/? c.57G>T r.(=) p.(=) g.3929861C>A Copied from the Exome Variant Server CREBBP_000426 1/12994 1/8600 0/4394 - - - - - - -
?/? c.85+31del r.(=) p.(=) g.3929802del Copied from the Exome Variant Server CREBBP_000425 29/10654 16/7066 13/3588 - - - - - - -
?/? c.85+32G>A r.(=) p.(=) g.3929801C>T Copied from the Exome Variant Server CREBBP_000424 33/11272 0/7478 33/3794 - - - - - - -
?/? c.86-43A>T r.(=) p.(=) g.3901053T>A Copied from the Exome Variant Server CREBBP_000423 1/12724 1/8412 0/4312 - - - - - - -
?/? c.86-23T>G r.(=) p.(=) g.3901033A>C Copied from the Exome Variant Server CREBBP_000422 1/12852 0/8496 1/4356 - - - - - - -
?/? c.105C>G r.(?) p.(Asp35Glu) g.3900991G>C Copied from the Exome Variant Server CREBBP_000421 1/12986 1/8592 0/4394 - - - - - - -
?/? c.166A>T r.(?) p.(Ser56Cys) g.3900930T>A Copied from the Exome Variant Server CREBBP_000420 1/12994 1/8600 0/4394 - - - - - - -
?/? c.177T>A r.(=) p.(=) g.3900919A>T Copied from the Exome Variant Server CREBBP_000419 2/12994 0/8600 2/4394 - - - - - - -
?/? c.222A>T r.(=) p.(=) g.3900874T>A Copied from the Exome Variant Server CREBBP_000418 3/12994 0/8600 3/4394 - - - - - - -
?/? c.234C>T r.(=) p.(=) g.3900862G>A Copied from the Exome Variant Server CREBBP_000417 1/12994 1/8600 0/4394 - - - - - - -
?/? c.244A>G r.(?) p.(Ile82Val) g.3900852T>C Copied from the Exome Variant Server CREBBP_000415 1/12994 1/8600 0/4394 - - - - - - -
?/? c.278G>A r.(?) p.(Ser93Asn) g.3900818C>T Copied from the Exome Variant Server CREBBP_000416 1/12994 1/8600 0/4394 - - - - - - -
?/? c.288G>A r.(=) p.(=) g.3900808C>T Copied from the Exome Variant Server CREBBP_000414 1/12994 0/8600 1/4394 - - - - - - -
?/? c.293G>T r.(?) p.(Gly98Val) g.3900803C>A Copied from the Exome Variant Server CREBBP_000413 37/12994 0/8600 37/4394 - - - - - - -
?/? c.333C>T r.(=) p.(=) g.3900763G>A Copied from the Exome Variant Server CREBBP_000412 32/12994 0/8600 32/4394 - - - - - - -
?/? c.349G>A r.(?) p.(Ala117Thr) g.3900747C>T Copied from the Exome Variant Server CREBBP_000411 1/12994 1/8600 0/4394 - - - - - - -
?/? c.383C>G r.(?) p.(Ser128Cys) g.3900713G>C Copied from the Exome Variant Server CREBBP_000410 15/12994 15/8600 0/4394 - - - - - - -
?/? c.417C>T r.(=) p.(=) g.3900679G>A Copied from the Exome Variant Server CREBBP_000409 1/12994 0/8600 1/4394 - - - - - - -
?/? c.436G>A r.(?) p.(Ala146Thr) g.3900660C>T Copied from the Exome Variant Server CREBBP_000408 2/12992 2/8598 0/4394 - - - - - - -
?/? c.451C>G r.(?) p.(Leu151Val) g.3900645G>C Copied from the Exome Variant Server CREBBP_000407 1/12994 0/8600 1/4394 - - - - - - -
?/? c.458C>T r.(?) p.(Pro153Leu) g.3900638G>A Copied from the Exome Variant Server CREBBP_000406 7/12994 7/8600 0/4394 - - - - - - -
?/? c.459G>A r.(=) p.(=) g.3900637C>T Copied from the Exome Variant Server CREBBP_000405 85/12994 74/8600 11/4394 - - - - - - -
?/? c.495C>G r.(?) p.(Ser165Arg) g.3900601G>C Copied from the Exome Variant Server CREBBP_000404 1/12994 1/8600 0/4394 - - - - - - -
?/? c.497C>A r.(?) p.(Pro166His) g.3900599G>T Copied from the Exome Variant Server CREBBP_000403 1/12994 1/8600 0/4394 - - - - - - -
?/? c.501C>T r.(=) p.(=) g.3900595G>A Copied from the Exome Variant Server CREBBP_000402 1/12994 1/8600 0/4394 - - - - - - -
?/? c.504G>A r.(=) p.(=) g.3900592C>T Copied from the Exome Variant Server CREBBP_000401 1/12994 1/8600 0/4394 - - - - - - -
?/? c.518C>G r.(?) p.(Pro173Arg) g.3900578G>C Copied from the Exome Variant Server CREBBP_000400 1/12994 0/8600 1/4394 - - - - - - -
?/? c.588C>T r.(=) p.(=) g.3900508G>A Copied from the Exome Variant Server CREBBP_000399 1/12994 1/8600 0/4394 - - - - - - -
?/? c.651C>T r.(=) p.(=) g.3900445G>A Copied from the Exome Variant Server CREBBP_000398 1/12994 1/8600 0/4394 - - - - - - -
?/? c.675G>A r.(=) p.(=) g.3900421C>T Copied from the Exome Variant Server CREBBP_000397 1/12994 1/8600 0/4394 - - - - - - -
?/? c.711C>T r.(=) p.(=) g.3900385G>A Copied from the Exome Variant Server CREBBP_000396 1/12994 1/8600 0/4394 - - - - - - -
?/? c.712G>C r.(?) p.(Val238Leu) g.3900384C>G Copied from the Exome Variant Server CREBBP_000395 8/12994 7/8600 1/4394 - - - - - - -
?/? c.732G>A r.(=) p.(=) g.3900364C>T Copied from the Exome Variant Server CREBBP_000394 2/12994 0/8600 2/4394 - - - - - - -
?/? c.753T>G r.(=) p.(=) g.3900343A>C Copied from the Exome Variant Server CREBBP_000393 18/12994 0/8600 18/4394 - - - - - - -
?/? c.760G>A r.(?) p.(Ala254Thr) g.3900336C>T Copied from the Exome Variant Server CREBBP_000392 3/12994 1/8600 2/4394 - - - - - - -
?/? c.761C>T r.(?) p.(Ala254Val) g.3900335G>A Copied from the Exome Variant Server CREBBP_000391 1/12994 1/8600 0/4394 - - - - - - -
?/? c.798+24A>G r.(=) p.(=) g.3900274T>C Copied from the Exome Variant Server CREBBP_000390 9/12994 3/8600 6/4394 - - - - - - -
?/? c.798+40C>T r.(=) p.(=) g.3900258G>A Copied from the Exome Variant Server CREBBP_000389 4/12994 0/8600 4/4394 - - - - - - -
?/? c.798+43G>A r.(=) p.(=) g.3900255C>T Copied from the Exome Variant Server CREBBP_000388 1/12994 1/8600 0/4394 - - - - - - -
?/? c.799-37C>T r.(=) p.(=) g.3860817G>A Copied from the Exome Variant Server CREBBP_000387 4/12994 3/8600 1/4394 - - - - - - -
?/? c.799-36G>A r.(=) p.(=) g.3860816C>T Copied from the Exome Variant Server CREBBP_000386 19/12994 1/8600 18/4394 - - - - - - -
?/? c.799-33A>G r.(=) p.(=) g.3860813T>C Copied from the Exome Variant Server CREBBP_000385 7/12994 6/8600 1/4394 - - - - - - -
?/? c.879G>A r.(=) p.(=) g.3860700C>T Copied from the Exome Variant Server CREBBP_000384 11/12994 11/8600 0/4394 - - - - - - -
?/? c.895A>G r.(?) p.(Ser299Gly) g.3860684T>C Copied from the Exome Variant Server CREBBP_000383 10/12994 0/8600 10/4394 - - - - - - -
?/? c.905G>A r.(?) p.(Ser302Asn) g.3860674C>T Copied from the Exome Variant Server CREBBP_000382 3/12994 3/8600 0/4394 - - - - - - -
?/? c.922C>G r.(?) p.(Pro308Ala) g.3860657G>C Copied from the Exome Variant Server CREBBP_000381 1/12994 0/8600 1/4394 - - - - - - -
?/? c.939T>C r.(=) p.(=) g.3860640A>G Copied from the Exome Variant Server CREBBP_000380 1206/12994 108/8600 1098/4394 - - - - - - -
?/? c.962A>G r.(?) p.(Asn321Ser) g.3860617T>C Copied from the Exome Variant Server CREBBP_000379 1/12994 1/8600 0/4394 - - - - - - -
?/? c.975+3A>G r.spl? p.? g.3860601T>C Copied from the Exome Variant Server CREBBP_000378 1/12994 1/8600 0/4394 - - - - - - -
?/? c.975+9C>A r.(=) p.(=) g.3860595G>T Copied from the Exome Variant Server CREBBP_000377 1/12994 1/8600 0/4394 - - - - - - -
?/? c.975+36C>T r.(=) p.(=) g.3860568G>A Copied from the Exome Variant Server CREBBP_000376 2/12994 0/8600 2/4394 - - - - - - -
?/? c.975+37G>A r.(=) p.(=) g.3860567C>T Copied from the Exome Variant Server CREBBP_000375 1/12994 1/8600 0/4394 - - - - - - -
?/? c.975+50G>A r.(=) p.(=) g.3860554C>T Copied from the Exome Variant Server CREBBP_000374 11/12994 11/8600 0/4394 - - - - - - -
?/? c.976-28G>T r.(=) p.(=) g.3843655C>A Copied from the Exome Variant Server CREBBP_000373 1/12994 0/8600 1/4394 - - - - - - -
?/? c.1113G>A r.(=) p.(=) g.3843490C>T Copied from the Exome Variant Server CREBBP_000372 1/12994 1/8600 0/4394 - - - - - - -
?/? c.1143G>A r.(=) p.(=) g.3843460C>T Copied from the Exome Variant Server CREBBP_000371 2/12994 0/8600 2/4394 - - - - - - -
?/? c.1149G>A r.(=) p.(=) g.3843454C>T Copied from the Exome Variant Server CREBBP_000370 26/12994 26/8600 0/4394 - - - - - - -
?/? c.1216+20C>A r.(=) p.(=) g.3843367G>T Copied from the Exome Variant Server CREBBP_000369 9/12994 9/8600 0/4394 - - - - - - -
?/? c.1216+22C>T r.(=) p.(=) g.3843365G>A Copied from the Exome Variant Server CREBBP_000368 1/12994 1/8600 0/4394 - - - - - - -
?/? c.1217-4A>G r.spl? p.? g.3842099T>C Copied from the Exome Variant Server CREBBP_000367 1/12994 1/8600 0/4394 - - - - - - -
?/? c.1274A>G r.(?) p.(His425Arg) g.3842038T>C Copied from the Exome Variant Server CREBBP_000366 1/12994 1/8600 0/4394 - - - - - - -
?/? c.1326A>T r.(?) p.(Gln442His) g.3841986T>A Copied from the Exome Variant Server CREBBP_000365 1/12994 0/8600 1/4394 - - - - - - -
?/? c.1330+49T>A r.(=) p.(=) g.3841933A>T Copied from the Exome Variant Server CREBBP_000364 17/12994 0/8600 17/4394 - - - - - - -
?/? c.1331-32G>T r.(=) p.(=) g.3832959C>A Copied from the Exome Variant Server CREBBP_000363 1255/12994 117/8600 1138/4394 - - - - - - -
?/? c.1331-23T>C r.(=) p.(=) g.3832950A>G Copied from the Exome Variant Server CREBBP_000362 1/12994 0/8600 1/4394 - - - - - - -
?/? c.1331-12_1331-9del r.(=) p.(=) g.3832936_3832939del Copied from the Exome Variant Server CREBBP_000361 1/12518 1/8254 0/4264 - - - - - - -
?/? c.1331-8C>T r.(=) p.(=) g.3832935G>A Copied from the Exome Variant Server CREBBP_000360 1/12994 1/8600 0/4394 - - - - - - -
?/? c.1331-2_1331-1insTA r.spl? p.? g.3832928_3832929insTA Copied from the Exome Variant Server CREBBP_000359 1/12518 0/8254 1/4264 - - - - - - -
?/? c.1369A>G r.(?) p.(Ile457Val) g.3832889T>C Copied from the Exome Variant Server CREBBP_000358 1/12994 1/8600 0/4394 - - - - - - -
?/? c.1399G>A r.(?) p.(Ala467Thr) g.3832859C>T Copied from the Exome Variant Server CREBBP_000357 4/12994 3/8600 1/4394 - - - - - - -
?/? c.1514C>T r.(?) p.(Pro505Leu) g.3832744G>A Copied from the Exome Variant Server CREBBP_000356 1/12994 1/8600 0/4394 - - - - - - -
?/? c.1521G>A r.(=) p.(=) g.3832737C>T Copied from the Exome Variant Server CREBBP_000355 1/12994 0/8600 1/4394 - - - - - - -
?/? c.1565A>T r.(?) p.(Asn522Ile) g.3832693T>A Copied from the Exome Variant Server CREBBP_000354 1/12994 1/8600 0/4394 - - - - - - -
?/? c.1573+38C>T r.(=) p.(=) g.3832647G>A Copied from the Exome Variant Server CREBBP_000353 2/12994 0/8600 2/4394 - - - - - - -
?/? c.1574-12C>T r.(=) p.(=) g.3831319G>A Copied from the Exome Variant Server CREBBP_000352 9/12994 0/8600 9/4394 - - - - - - -
?/? c.1633T>C r.(=) p.(=) g.3831248A>G Copied from the Exome Variant Server CREBBP_000351 1/12994 1/8600 0/4394 - - - - - - -
?/? c.1651C>A r.(?) p.(Leu551Ile) g.3831230G>T Copied from the Exome Variant Server CREBBP_000350 113/12994 104/8600 9/4394 - - - - - - -
?/? c.1676+18A>T r.(=) p.(=) g.3831187T>A Copied from the Exome Variant Server CREBBP_000349 1121/12994 118/8600 1003/4394 - - - - - - -
?/? c.1676+27A>G r.(=) p.(=) g.3831178T>C Copied from the Exome Variant Server CREBBP_000348 9/12994 9/8600 0/4394 - - - - - - -
?/? c.1677C>G r.(?) p.(Asn559Lys) g.3830879G>C Copied from the Exome Variant Server CREBBP_000347 1/12994 1/8600 0/4394 - - - - - - -
?/? c.1713T>C r.(=) p.(=) g.3830843A>G Copied from the Exome Variant Server CREBBP_000346 1/12994 1/8600 0/4394 - - - - - - -
?/? c.1723A>G r.(?) p.(Ser575Gly) g.3830833T>C Copied from the Exome Variant Server CREBBP_000345 2/12994 0/8600 2/4394 - - - - - - -
?/? c.1732C>T r.(?) p.(Pro578Ser) g.3830824G>A Copied from the Exome Variant Server CREBBP_000344 4/12994 4/8600 0/4394 - - - - - - -
?/? c.1735A>G r.(?) p.(Thr579Ala) g.3830821T>C Copied from the Exome Variant Server CREBBP_000343 1/12994 0/8600 1/4394 - - - - - - -
?/? c.1743T>G r.(=) p.(=) g.3830813A>C Copied from the Exome Variant Server CREBBP_000342 1/12994 1/8600 0/4394 - - - - - - -
?/? c.1750T>C r.(?) p.(Ser584Pro) g.3830806A>G Copied from the Exome Variant Server CREBBP_000341 2/12994 1/8600 1/4394 - - - - - - -
?/? c.1758C>T r.(=) p.(=) g.3830798G>A Copied from the Exome Variant Server CREBBP_000340 1/12994 0/8600 1/4394 - - - - - - -
?/? c.1779C>T r.(=) p.(=) g.3830777G>A Copied from the Exome Variant Server CREBBP_000339 2/12994 1/8600 1/4394 - - - - - - -
?/? c.1824-44_1824-43insA r.(=) p.(=) g.3828861_3828862insT Copied from the Exome Variant Server CREBBP_000338 14/12518 11/8254 3/4264 - - - - - - -
?/? c.1824-31_1824-30insAA r.(=) p.(=) g.3828848_3828849insTT Copied from the Exome Variant Server CREBBP_000337 2/12518 1/8254 1/4264 - - - - - - -
?/? c.1824-30del r.(=) p.(=) g.3828848del Copied from the Exome Variant Server CREBBP_000336 149/12518 53/8254 96/4264 - - - - - - -
?/? c.1824-30dup r.(=) p.(=) g.3828848dup Copied from the Exome Variant Server CREBBP_000335 39/12518 4/8254 35/4264 - - - - - - -
?/? c.1824-19_1824-16del r.(=) p.(=) g.3828834_3828837del Copied from the Exome Variant Server CREBBP_000334 1/12518 1/8254 0/4264 - - - - - - -
Legend   « First ‹ Prev     1 2 3 4 5     Next › Last »