Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.3740442_3740452del | CA2695222657 | CREBBP | c.4080_4090del (p.Val1361LeufsTer23) c.3966_3976del (p.Val1323LeufsTer23) c.2715_2725del (p.Val906LeufsTer23) c.386_396del n.162_172del n.3017_3027del c.4035_4045del (p.Val1346LeufsTer23) c.3663_3673del (p.Val1222LeufsTer23) c.4080_4090del (p.Val1361LeufsTer27) c.4026_4036del (p.Val1343LeufsTer23) c.3327_3337del (p.Val1110LeufsTer23) c.4074_4084del (p.Val1359LeufsTer23) | |
16 | g.3740450A>C | CA394565306 | CREBBP | c.4082T>G (p.Val1361Gly) c.3968T>G (p.Val1323Gly) c.2717T>G (p.Val906Gly) n.546T>G c.388T>G n.164T>G n.3019T>G c.4037T>G (p.Val1346Gly) c.3665T>G (p.Val1222Gly) c.4028T>G (p.Val1343Gly) c.3329T>G (p.Val1110Gly) c.4076T>G (p.Val1359Gly) | dbSNP |
16 | g.3740450A>G | CA394565307 | CREBBP | c.4082T>C (p.Val1361Ala) c.3968T>C (p.Val1323Ala) c.2717T>C (p.Val906Ala) n.546T>C c.388T>C n.164T>C n.3019T>C c.4037T>C (p.Val1346Ala) c.3665T>C (p.Val1222Ala) c.4028T>C (p.Val1343Ala) c.3329T>C (p.Val1110Ala) c.4076T>C (p.Val1359Ala) | dbSNP |
16 | g.3740450A>T | CA394565308 | CREBBP | c.4082T>A (p.Val1361Glu) c.3968T>A (p.Val1323Glu) c.2717T>A (p.Val906Glu) n.546T>A c.388T>A n.164T>A n.3019T>A c.4037T>A (p.Val1346Glu) c.3665T>A (p.Val1222Glu) c.4028T>A (p.Val1343Glu) c.3329T>A (p.Val1110Glu) c.4076T>A (p.Val1359Glu) | dbSNP |
16 | g.3740451C>A | CA394565310 | CREBBP | c.4081G>T (p.Val1361Leu) c.3967G>T (p.Val1323Leu) c.2716G>T (p.Val906Leu) n.545G>T c.387G>T n.163G>T n.3018G>T c.4036G>T (p.Val1346Leu) c.3664G>T (p.Val1222Leu) c.4027G>T (p.Val1343Leu) c.3328G>T (p.Val1110Leu) c.4075G>T (p.Val1359Leu) | |
16 | g.3740451C= | CA2202940832 | CREBBP | c.4081G= (p.Val1361=) c.3967G= (p.Val1323=) c.2716G= (p.Val906=) n.545G= c.387G= n.163G= n.3018G= c.4036G= (p.Val1346=) c.3664G= (p.Val1222=) c.4027G= (p.Val1343=) c.3328G= (p.Val1110=) c.4075G= (p.Val1359=) | |
16 | g.3740451C>G | CA276983206 | CREBBP | c.4081G>C (p.Val1361Leu) c.3967G>C (p.Val1323Leu) c.2716G>C (p.Val906Leu) n.545G>C c.387G>C n.163G>C n.3018G>C c.4036G>C (p.Val1346Leu) c.3664G>C (p.Val1222Leu) c.4027G>C (p.Val1343Leu) c.3328G>C (p.Val1110Leu) c.4075G>C (p.Val1359Leu) | dbSNP |
16 | g.3740451C>T | CA394565309 | CREBBP | c.4081G>A (p.Val1361Met) c.3967G>A (p.Val1323Met) c.2716G>A (p.Val906Met) n.545G>A c.387G>A n.163G>A n.3018G>A c.4036G>A (p.Val1346Met) c.3664G>A (p.Val1222Met) c.4027G>A (p.Val1343Met) c.3328G>A (p.Val1110Met) c.4075G>A (p.Val1359Met) | gnomAD v4 |
16 | g.3740452T>A | CA493280352 | CREBBP | c.4080A>T (p.Arg1360=) c.3966A>T (p.Arg1322=) c.2715A>T (p.Arg905=) n.544A>T c.386A>T n.162A>T n.3017A>T c.4035A>T (p.Arg1345=) c.3663A>T (p.Arg1221=) c.4026A>T (p.Arg1342=) c.3327A>T (p.Arg1109=) c.4074A>T (p.Arg1358=) | dbSNP |
16 | g.3740452T>C | CA493280353 | CREBBP | c.4080A>G (p.Arg1360=) c.3966A>G (p.Arg1322=) c.2715A>G (p.Arg905=) n.544A>G c.386A>G n.162A>G n.3017A>G c.4035A>G (p.Arg1345=) c.3663A>G (p.Arg1221=) c.4026A>G (p.Arg1342=) c.3327A>G (p.Arg1109=) c.4074A>G (p.Arg1358=) | dbSNP |
16 | g.3740452T>G | CA493280354 | CREBBP | c.4080A>C (p.Arg1360=) c.3966A>C (p.Arg1322=) c.2715A>C (p.Arg905=) n.544A>C c.386A>C n.162A>C n.3017A>C c.4035A>C (p.Arg1345=) c.3663A>C (p.Arg1221=) c.4026A>C (p.Arg1342=) c.3327A>C (p.Arg1109=) c.4074A>C (p.Arg1358=) | |
16 | g.3740453C>A | CA394565311 | CREBBP | c.4079G>T (p.Arg1360Leu) c.3965G>T (p.Arg1322Leu) c.2714G>T (p.Arg905Leu) n.543G>T c.385G>T n.161G>T n.3016G>T c.4034G>T (p.Arg1345Leu) c.3662G>T (p.Arg1221Leu) c.4025G>T (p.Arg1342Leu) c.3326G>T (p.Arg1109Leu) c.4073G>T (p.Arg1358Leu) | dbSNP |
16 | g.3740453C= | CA2202940835 | CREBBP | c.4079G= (p.Arg1360=) c.3965G= (p.Arg1322=) c.2714G= (p.Arg905=) n.543G= c.385G= n.161G= n.3016G= c.4034G= (p.Arg1345=) c.3662G= (p.Arg1221=) c.4025G= (p.Arg1342=) c.3326G= (p.Arg1109=) c.4073G= (p.Arg1358=) | |
16 | g.3740453C>G | CA394565312 | CREBBP | c.4079G>C (p.Arg1360Pro) c.3965G>C (p.Arg1322Pro) c.2714G>C (p.Arg905Pro) n.543G>C c.385G>C n.161G>C n.3016G>C c.4034G>C (p.Arg1345Pro) c.3662G>C (p.Arg1221Pro) c.4025G>C (p.Arg1342Pro) c.3326G>C (p.Arg1109Pro) c.4073G>C (p.Arg1358Pro) | dbSNP |
16 | g.3740453C>T | CA394565313 | CREBBP | c.4079G>A (p.Arg1360Gln) c.3965G>A (p.Arg1322Gln) c.2714G>A (p.Arg905Gln) n.543G>A c.385G>A n.161G>A n.3016G>A c.4034G>A (p.Arg1345Gln) c.3662G>A (p.Arg1221Gln) c.4025G>A (p.Arg1342Gln) c.3326G>A (p.Arg1109Gln) c.4073G>A (p.Arg1358Gln) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.3740454G>A | CA271405 | CREBBP | c.4078C>T (p.Arg1360Ter) c.3964C>T (p.Arg1322Ter) c.2713C>T (p.Arg905Ter) n.542C>T c.384C>T n.160C>T n.3015C>T c.4033C>T (p.Arg1345Ter) c.3661C>T (p.Arg1221Ter) c.4024C>T (p.Arg1342Ter) c.3325C>T (p.Arg1109Ter) c.4072C>T (p.Arg1358Ter) | ClinVar dbSNP COSMIC |
16 | g.3740454G>C | CA394565314 | CREBBP | c.4078C>G (p.Arg1360Gly) c.3964C>G (p.Arg1322Gly) c.2713C>G (p.Arg905Gly) n.542C>G c.384C>G n.160C>G n.3015C>G c.4033C>G (p.Arg1345Gly) c.3661C>G (p.Arg1221Gly) c.4024C>G (p.Arg1342Gly) c.3325C>G (p.Arg1109Gly) c.4072C>G (p.Arg1358Gly) | dbSNP |
16 | g.3740454G= | CA2202940843 | CREBBP | c.4078C= (p.Arg1360=) c.3964C= (p.Arg1322=) c.2713C= (p.Arg905=) n.542C= c.384C= n.160C= n.3015C= c.4033C= (p.Arg1345=) c.3661C= (p.Arg1221=) c.4024C= (p.Arg1342=) c.3325C= (p.Arg1109=) c.4072C= (p.Arg1358=) | |
16 | g.3740454G>T | CA493280357 | CREBBP | c.4078C>A (p.Arg1360=) c.3964C>A (p.Arg1322=) c.2713C>A (p.Arg905=) n.542C>A c.384C>A n.160C>A n.3015C>A c.4033C>A (p.Arg1345=) c.3661C>A (p.Arg1221=) c.4024C>A (p.Arg1342=) c.3325C>A (p.Arg1109=) c.4072C>A (p.Arg1358=) | dbSNP |
16 | g.3740455dup | CA915949075 | CREBBP | c.4078dup (p.Arg1360ProfsTer28) c.3964dup (p.Arg1322ProfsTer28) c.2713dup (p.Arg905ProfsTer28) n.542dup c.384dup n.160dup n.3015dup c.4033dup (p.Arg1345ProfsTer28) c.3661dup (p.Arg1221ProfsTer28) c.4078dup (p.Arg1360ProfsTer?) c.4024dup (p.Arg1342ProfsTer28) c.3325dup (p.Arg1109ProfsTer28) c.4072dup (p.Arg1358ProfsTer28) | ClinVar dbSNP |
16 | g.3740455G>A | CA493280359 | CREBBP | c.4077C>T (p.Val1359=) c.3963C>T (p.Val1321=) c.2712C>T (p.Val904=) n.541C>T c.383C>T n.159C>T n.3014C>T c.4032C>T (p.Val1344=) c.3660C>T (p.Val1220=) c.4023C>T (p.Val1341=) c.3324C>T (p.Val1108=) c.4071C>T (p.Val1357=) | dbSNP |
16 | g.3740455G>C | CA493280360 | CREBBP | c.4077C>G (p.Val1359=) c.3963C>G (p.Val1321=) c.2712C>G (p.Val904=) n.541C>G c.383C>G n.159C>G n.3014C>G c.4032C>G (p.Val1344=) c.3660C>G (p.Val1220=) c.4023C>G (p.Val1341=) c.3324C>G (p.Val1108=) c.4071C>G (p.Val1357=) | dbSNP |
16 | g.3740455G>T | CA493280361 | CREBBP | c.4077C>A (p.Val1359=) c.3963C>A (p.Val1321=) c.2712C>A (p.Val904=) n.541C>A c.383C>A n.159C>A n.3014C>A c.4032C>A (p.Val1344=) c.3660C>A (p.Val1220=) c.4023C>A (p.Val1341=) c.3324C>A (p.Val1108=) c.4071C>A (p.Val1357=) | dbSNP |
16 | g.3740456A>C | CA394565315 | CREBBP | c.4076T>G (p.Val1359Gly) c.3962T>G (p.Val1321Gly) c.2711T>G (p.Val904Gly) n.540T>G c.382T>G n.158T>G n.3013T>G c.4031T>G (p.Val1344Gly) c.3659T>G (p.Val1220Gly) c.4022T>G (p.Val1341Gly) c.3323T>G (p.Val1108Gly) c.4070T>G (p.Val1357Gly) | dbSNP |
16 | g.3740456A>G | CA394565316 | CREBBP | c.4076T>C (p.Val1359Ala) c.3962T>C (p.Val1321Ala) c.2711T>C (p.Val904Ala) n.540T>C c.382T>C n.158T>C n.3013T>C c.4031T>C (p.Val1344Ala) c.3659T>C (p.Val1220Ala) c.4022T>C (p.Val1341Ala) c.3323T>C (p.Val1108Ala) c.4070T>C (p.Val1357Ala) | |
16 | g.3740456A>T | CA394565317 | CREBBP | c.4076T>A (p.Val1359Asp) c.3962T>A (p.Val1321Asp) c.2711T>A (p.Val904Asp) n.540T>A c.382T>A n.158T>A n.3013T>A c.4031T>A (p.Val1344Asp) c.3659T>A (p.Val1220Asp) c.4022T>A (p.Val1341Asp) c.3323T>A (p.Val1108Asp) c.4070T>A (p.Val1357Asp) | dbSNP gnomAD v4 |
16 | g.3740457C>A | CA394565318 | CREBBP | c.4075G>T (p.Val1359Phe) c.3961G>T (p.Val1321Phe) c.2710G>T (p.Val904Phe) n.539G>T c.381G>T n.157G>T n.3012G>T c.4030G>T (p.Val1344Phe) c.3658G>T (p.Val1220Phe) c.4021G>T (p.Val1341Phe) c.3322G>T (p.Val1108Phe) c.4069G>T (p.Val1357Phe) | dbSNP |
16 | g.3740457C= | CA2202940846 | CREBBP | c.4075G= (p.Val1359=) c.3961G= (p.Val1321=) c.2710G= (p.Val904=) n.539G= c.381G= n.157G= n.3012G= c.4030G= (p.Val1344=) c.3658G= (p.Val1220=) c.4021G= (p.Val1341=) c.3322G= (p.Val1108=) c.4069G= (p.Val1357=) | |
16 | g.3740457C>G | CA394565319 | CREBBP | c.4075G>C (p.Val1359Leu) c.3961G>C (p.Val1321Leu) c.2710G>C (p.Val904Leu) n.539G>C c.381G>C n.157G>C n.3012G>C c.4030G>C (p.Val1344Leu) c.3658G>C (p.Val1220Leu) c.4021G>C (p.Val1341Leu) c.3322G>C (p.Val1108Leu) c.4069G>C (p.Val1357Leu) | dbSNP |
16 | g.3740457C>T | CA394565320 | CREBBP | c.4075G>A (p.Val1359Ile) c.3961G>A (p.Val1321Ile) c.2710G>A (p.Val904Ile) n.539G>A c.381G>A n.157G>A n.3012G>A c.4030G>A (p.Val1344Ile) c.3658G>A (p.Val1220Ile) c.4021G>A (p.Val1341Ile) c.3322G>A (p.Val1108Ile) c.4069G>A (p.Val1357Ile) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.3740458A= | CA2202940848 | CREBBP | c.4074T= (p.Phe1358=) c.3960T= (p.Phe1320=) c.2709T= (p.Phe903=) n.538T= c.380T= n.156T= n.3011T= c.4029T= (p.Phe1343=) c.3657T= (p.Phe1219=) c.4020T= (p.Phe1340=) c.3321T= (p.Phe1107=) c.4068T= (p.Phe1356=) | |
16 | g.3740458A>C | CA394565321 | CREBBP | c.4074T>G (p.Phe1358Leu) c.3960T>G (p.Phe1320Leu) c.2709T>G (p.Phe903Leu) n.538T>G c.380T>G n.156T>G n.3011T>G c.4029T>G (p.Phe1343Leu) c.3657T>G (p.Phe1219Leu) c.4020T>G (p.Phe1340Leu) c.3321T>G (p.Phe1107Leu) c.4068T>G (p.Phe1356Leu) | |
16 | g.3740458A>G | CA493280365 | CREBBP | c.4074T>C (p.Phe1358=) c.3960T>C (p.Phe1320=) c.2709T>C (p.Phe903=) n.538T>C c.380T>C n.156T>C n.3011T>C c.4029T>C (p.Phe1343=) c.3657T>C (p.Phe1219=) c.4020T>C (p.Phe1340=) c.3321T>C (p.Phe1107=) c.4068T>C (p.Phe1356=) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.3740458A>T | CA394565322 | CREBBP | c.4074T>A (p.Phe1358Leu) c.3960T>A (p.Phe1320Leu) c.2709T>A (p.Phe903Leu) n.538T>A c.380T>A n.156T>A n.3011T>A c.4029T>A (p.Phe1343Leu) c.3657T>A (p.Phe1219Leu) c.4020T>A (p.Phe1340Leu) c.3321T>A (p.Phe1107Leu) c.4068T>A (p.Phe1356Leu) | |
16 | g.3740462dup | CA2842119122 | CREBBP | c.4074dup (p.Val1359CysfsTer29) c.3960dup (p.Val1321CysfsTer29) c.2709dup (p.Val904CysfsTer29) n.538dup c.380dup n.156dup n.3011dup c.4029dup (p.Val1344CysfsTer29) c.3657dup (p.Val1220CysfsTer29) c.4074dup (p.Val1359CysfsTer?) c.4020dup (p.Val1341CysfsTer29) c.3321dup (p.Val1108CysfsTer29) c.4068dup (p.Val1357CysfsTer29) | |
16 | g.3740462del | CA493280367 | CREBBP | c.4074del (p.Phe1358LeufsTer18) c.3960del (p.Phe1320LeufsTer18) c.2709del (p.Phe903LeufsTer18) n.538del c.380del n.156del n.3011del c.4029del (p.Phe1343LeufsTer18) c.3657del (p.Phe1219LeufsTer18) c.4020del (p.Phe1340LeufsTer18) c.3321del (p.Phe1107LeufsTer18) c.4068del (p.Phe1356LeufsTer18) | COSMIC |
16 | g.3740459A= | CA2202940851 | CREBBP | c.4073T= (p.Phe1358=) c.3959T= (p.Phe1320=) c.2708T= (p.Phe903=) n.537T= c.379T= n.155T= n.3010T= c.4028T= (p.Phe1343=) c.3656T= (p.Phe1219=) c.4019T= (p.Phe1340=) c.3320T= (p.Phe1107=) c.4067T= (p.Phe1356=) | |
16 | g.3740459A>C | CA394565324 | CREBBP | c.4073T>G (p.Phe1358Cys) c.3959T>G (p.Phe1320Cys) c.2708T>G (p.Phe903Cys) n.537T>G c.379T>G n.155T>G n.3010T>G c.4028T>G (p.Phe1343Cys) c.3656T>G (p.Phe1219Cys) c.4019T>G (p.Phe1340Cys) c.3320T>G (p.Phe1107Cys) c.4067T>G (p.Phe1356Cys) | dbSNP |
16 | g.3740459A>G | CA7869624 | CREBBP | c.4073T>C (p.Phe1358Ser) c.3959T>C (p.Phe1320Ser) c.2708T>C (p.Phe903Ser) n.537T>C c.379T>C n.155T>C n.3010T>C c.4028T>C (p.Phe1343Ser) c.3656T>C (p.Phe1219Ser) c.4019T>C (p.Phe1340Ser) c.3320T>C (p.Phe1107Ser) c.4067T>C (p.Phe1356Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3740459A>T | CA394565323 | CREBBP | c.4073T>A (p.Phe1358Tyr) c.3959T>A (p.Phe1320Tyr) c.2708T>A (p.Phe903Tyr) n.537T>A c.379T>A n.155T>A n.3010T>A c.4028T>A (p.Phe1343Tyr) c.3656T>A (p.Phe1219Tyr) c.4019T>A (p.Phe1340Tyr) c.3320T>A (p.Phe1107Tyr) c.4067T>A (p.Phe1356Tyr) | dbSNP |
16 | g.3740460A>C | CA394565325 | CREBBP | c.4072T>G (p.Phe1358Val) c.3958T>G (p.Phe1320Val) c.2707T>G (p.Phe903Val) n.536T>G c.378T>G n.154T>G n.3009T>G c.4027T>G (p.Phe1343Val) c.3655T>G (p.Phe1219Val) c.4018T>G (p.Phe1340Val) c.3319T>G (p.Phe1107Val) c.4066T>G (p.Phe1356Val) | |
16 | g.3740460A>G | CA394565327 | CREBBP | c.4072T>C (p.Phe1358Leu) c.3958T>C (p.Phe1320Leu) c.2707T>C (p.Phe903Leu) n.536T>C c.378T>C n.154T>C n.3009T>C c.4027T>C (p.Phe1343Leu) c.3655T>C (p.Phe1219Leu) c.4018T>C (p.Phe1340Leu) c.3319T>C (p.Phe1107Leu) c.4066T>C (p.Phe1356Leu) | dbSNP |
16 | g.3740460A>T | CA394565326 | CREBBP | c.4072T>A (p.Phe1358Ile) c.3958T>A (p.Phe1320Ile) c.2707T>A (p.Phe903Ile) n.536T>A c.378T>A n.154T>A n.3009T>A c.4027T>A (p.Phe1343Ile) c.3655T>A (p.Phe1219Ile) c.4018T>A (p.Phe1340Ile) c.3319T>A (p.Phe1107Ile) c.4066T>A (p.Phe1356Ile) | |
16 | g.3740461A>C | CA493280370 | CREBBP | c.4071T>G (p.Val1357=) c.3957T>G (p.Val1319=) c.2706T>G (p.Val902=) n.535T>G c.377T>G n.153T>G n.3008T>G c.4026T>G (p.Val1342=) c.3654T>G (p.Val1218=) c.4017T>G (p.Val1339=) c.3318T>G (p.Val1106=) c.4065T>G (p.Val1355=) | dbSNP |
16 | g.3740461A>G | CA493280371 | CREBBP | c.4071T>C (p.Val1357=) c.3957T>C (p.Val1319=) c.2706T>C (p.Val902=) n.535T>C c.377T>C n.153T>C n.3008T>C c.4026T>C (p.Val1342=) c.3654T>C (p.Val1218=) c.4017T>C (p.Val1339=) c.3318T>C (p.Val1106=) c.4065T>C (p.Val1355=) | |
16 | g.3740461A>T | CA493280372 | CREBBP | c.4071T>A (p.Val1357=) c.3957T>A (p.Val1319=) c.2706T>A (p.Val902=) n.535T>A c.377T>A n.153T>A n.3008T>A c.4026T>A (p.Val1342=) c.3654T>A (p.Val1218=) c.4017T>A (p.Val1339=) c.3318T>A (p.Val1106=) c.4065T>A (p.Val1355=) | dbSNP |
16 | g.3740461_3740465del | CA2580091123 | CREBBP | c.4067_4071del (p.Glu1356ValfsTer30) c.3953_3957del (p.Glu1318ValfsTer30) c.2702_2706del (p.Glu901ValfsTer30) n.531_535del c.373_377del n.149_153del n.3004_3008del c.4022_4026del (p.Glu1341ValfsTer30) c.3650_3654del (p.Glu1217ValfsTer30) c.4067_4071del (p.Glu1356ValfsTer?) c.4013_4017del (p.Glu1338ValfsTer30) c.3314_3318del (p.Glu1105ValfsTer30) c.4061_4065del (p.Glu1354ValfsTer30) | ClinVar |
16 | g.3740462A>C | CA394565328 | CREBBP | c.4070T>G (p.Val1357Gly) c.3956T>G (p.Val1319Gly) c.2705T>G (p.Val902Gly) n.534T>G c.376T>G n.152T>G n.3007T>G c.4025T>G (p.Val1342Gly) c.3653T>G (p.Val1218Gly) c.4016T>G (p.Val1339Gly) c.3317T>G (p.Val1106Gly) c.4064T>G (p.Val1355Gly) | dbSNP |
16 | g.3740462A>G | CA394565329 | CREBBP | c.4070T>C (p.Val1357Ala) c.3956T>C (p.Val1319Ala) c.2705T>C (p.Val902Ala) n.534T>C c.376T>C n.152T>C n.3007T>C c.4025T>C (p.Val1342Ala) c.3653T>C (p.Val1218Ala) c.4016T>C (p.Val1339Ala) c.3317T>C (p.Val1106Ala) c.4064T>C (p.Val1355Ala) | dbSNP |
16 | g.3740462A>T | CA394565330 | CREBBP | c.4070T>A (p.Val1357Asp) c.3956T>A (p.Val1319Asp) c.2705T>A (p.Val902Asp) n.534T>A c.376T>A n.152T>A n.3007T>A c.4025T>A (p.Val1342Asp) c.3653T>A (p.Val1218Asp) c.4016T>A (p.Val1339Asp) c.3317T>A (p.Val1106Asp) c.4064T>A (p.Val1355Asp) | dbSNP |
16 | g.3740463C>A | CA394565331 | CREBBP | c.4069G>T (p.Val1357Phe) c.3955G>T (p.Val1319Phe) c.2704G>T (p.Val902Phe) n.533G>T c.375G>T n.151G>T n.3006G>T c.4024G>T (p.Val1342Phe) c.3652G>T (p.Val1218Phe) c.4015G>T (p.Val1339Phe) c.3316G>T (p.Val1106Phe) c.4063G>T (p.Val1355Phe) | dbSNP |
16 | g.3740463C= | CA2202940855 | CREBBP | c.4069G= (p.Val1357=) c.3955G= (p.Val1319=) c.2704G= (p.Val902=) n.533G= c.375G= n.151G= n.3006G= c.4024G= (p.Val1342=) c.3652G= (p.Val1218=) c.4015G= (p.Val1339=) c.3316G= (p.Val1106=) c.4063G= (p.Val1355=) | |
16 | g.3740463C>G | CA394565332 | CREBBP | c.4069G>C (p.Val1357Leu) c.3955G>C (p.Val1319Leu) c.2704G>C (p.Val902Leu) n.533G>C c.375G>C n.151G>C n.3006G>C c.4024G>C (p.Val1342Leu) c.3652G>C (p.Val1218Leu) c.4015G>C (p.Val1339Leu) c.3316G>C (p.Val1106Leu) c.4063G>C (p.Val1355Leu) | dbSNP |
16 | g.3740463C>T | CA394565333 | CREBBP | c.4069G>A (p.Val1357Ile) c.3955G>A (p.Val1319Ile) c.2704G>A (p.Val902Ile) n.533G>A c.375G>A n.151G>A n.3006G>A c.4024G>A (p.Val1342Ile) c.3652G>A (p.Val1218Ile) c.4015G>A (p.Val1339Ile) c.3316G>A (p.Val1106Ile) c.4063G>A (p.Val1355Ile) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.3740464C>A | CA394565334 | CREBBP | c.4068G>T (p.Glu1356Asp) c.3954G>T (p.Glu1318Asp) c.2703G>T (p.Glu901Asp) n.532G>T c.374G>T n.150G>T n.3005G>T c.4023G>T (p.Glu1341Asp) c.3651G>T (p.Glu1217Asp) c.4014G>T (p.Glu1338Asp) c.3315G>T (p.Glu1105Asp) c.4062G>T (p.Glu1354Asp) | dbSNP |
16 | g.3740464C= | CA2202940857 | CREBBP | c.4068G= (p.Glu1356=) c.3954G= (p.Glu1318=) c.2703G= (p.Glu901=) n.532G= c.374G= n.150G= n.3005G= c.4023G= (p.Glu1341=) c.3651G= (p.Glu1217=) c.4014G= (p.Glu1338=) c.3315G= (p.Glu1105=) c.4062G= (p.Glu1354=) | |
16 | g.3740464C>G | CA394565335 | CREBBP | c.4068G>C (p.Glu1356Asp) c.3954G>C (p.Glu1318Asp) c.2703G>C (p.Glu901Asp) n.532G>C c.374G>C n.150G>C n.3005G>C c.4023G>C (p.Glu1341Asp) c.3651G>C (p.Glu1217Asp) c.4014G>C (p.Glu1338Asp) c.3315G>C (p.Glu1105Asp) c.4062G>C (p.Glu1354Asp) | dbSNP |
16 | g.3740464C>T | CA7869625 | CREBBP | c.4068G>A (p.Glu1356=) c.3954G>A (p.Glu1318=) c.2703G>A (p.Glu901=) n.532G>A c.374G>A n.150G>A n.3005G>A c.4023G>A (p.Glu1341=) c.3651G>A (p.Glu1217=) c.4014G>A (p.Glu1338=) c.3315G>A (p.Glu1105=) c.4062G>A (p.Glu1354=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3740465T>A | CA394565336 | CREBBP | c.4067A>T (p.Glu1356Val) c.3953A>T (p.Glu1318Val) c.2702A>T (p.Glu901Val) n.531A>T c.373A>T n.149A>T n.3004A>T c.4022A>T (p.Glu1341Val) c.3650A>T (p.Glu1217Val) c.4013A>T (p.Glu1338Val) c.3314A>T (p.Glu1105Val) c.4061A>T (p.Glu1354Val) | |
16 | g.3740465T>C | CA394565337 | CREBBP | c.4067A>G (p.Glu1356Gly) c.3953A>G (p.Glu1318Gly) c.2702A>G (p.Glu901Gly) n.531A>G c.373A>G n.149A>G n.3004A>G c.4022A>G (p.Glu1341Gly) c.3650A>G (p.Glu1217Gly) c.4013A>G (p.Glu1338Gly) c.3314A>G (p.Glu1105Gly) c.4061A>G (p.Glu1354Gly) | dbSNP |
16 | g.3740465T>G | CA394565338 | CREBBP | c.4067A>C (p.Glu1356Ala) c.3953A>C (p.Glu1318Ala) c.2702A>C (p.Glu901Ala) n.531A>C c.373A>C n.149A>C n.3004A>C c.4022A>C (p.Glu1341Ala) c.3650A>C (p.Glu1217Ala) c.4013A>C (p.Glu1338Ala) c.3314A>C (p.Glu1105Ala) c.4061A>C (p.Glu1354Ala) | |
16 | g.3740466C>A | CA394565341 | CREBBP | c.4066G>T (p.Glu1356Ter) c.3952G>T (p.Glu1318Ter) c.2701G>T (p.Glu901Ter) n.530G>T c.372G>T n.148G>T n.3003G>T c.4021G>T (p.Glu1341Ter) c.3649G>T (p.Glu1217Ter) c.4012G>T (p.Glu1338Ter) c.3313G>T (p.Glu1105Ter) c.4060G>T (p.Glu1354Ter) | dbSNP |
16 | g.3740466C= | CA2202940862 | CREBBP | c.4066G= (p.Glu1356=) c.3952G= (p.Glu1318=) c.2701G= (p.Glu901=) n.530G= c.372G= n.148G= n.3003G= c.4021G= (p.Glu1341=) c.3649G= (p.Glu1217=) c.4012G= (p.Glu1338=) c.3313G= (p.Glu1105=) c.4060G= (p.Glu1354=) | |
16 | g.3740466C>G | CA394565339 | CREBBP | c.4066G>C (p.Glu1356Gln) c.3952G>C (p.Glu1318Gln) c.2701G>C (p.Glu901Gln) n.530G>C c.372G>C n.148G>C n.3003G>C c.4021G>C (p.Glu1341Gln) c.3649G>C (p.Glu1217Gln) c.4012G>C (p.Glu1338Gln) c.3313G>C (p.Glu1105Gln) c.4060G>C (p.Glu1354Gln) | dbSNP |
16 | g.3740466C>T | CA394565340 | CREBBP | c.4066G>A (p.Glu1356Lys) c.3952G>A (p.Glu1318Lys) c.2701G>A (p.Glu901Lys) n.530G>A c.372G>A n.148G>A n.3003G>A c.4021G>A (p.Glu1341Lys) c.3649G>A (p.Glu1217Lys) c.4012G>A (p.Glu1338Lys) c.3313G>A (p.Glu1105Lys) c.4060G>A (p.Glu1354Lys) | ClinVar dbSNP |
16 | g.3740467C>A | CA493280377 | CREBBP | c.4065G>T (p.Gly1355=) c.3951G>T (p.Gly1317=) c.2700G>T (p.Gly900=) n.529G>T c.371G>T n.147G>T n.3002G>T c.4020G>T (p.Gly1340=) c.3648G>T (p.Gly1216=) c.4011G>T (p.Gly1337=) c.3312G>T (p.Gly1104=) c.4059G>T (p.Gly1353=) | dbSNP |
16 | g.3740467C>G | CA493280378 | CREBBP | c.4065G>C (p.Gly1355=) c.3951G>C (p.Gly1317=) c.2700G>C (p.Gly900=) n.529G>C c.371G>C n.147G>C n.3002G>C c.4020G>C (p.Gly1340=) c.3648G>C (p.Gly1216=) c.4011G>C (p.Gly1337=) c.3312G>C (p.Gly1104=) c.4059G>C (p.Gly1353=) | dbSNP |
16 | g.3740467C>T | CA493280379 | CREBBP | c.4065G>A (p.Gly1355=) c.3951G>A (p.Gly1317=) c.2700G>A (p.Gly900=) n.529G>A c.371G>A n.147G>A n.3002G>A c.4020G>A (p.Gly1340=) c.3648G>A (p.Gly1216=) c.4011G>A (p.Gly1337=) c.3312G>A (p.Gly1104=) c.4059G>A (p.Gly1353=) | dbSNP |
16 | g.3740468C>A | CA394565342 | CREBBP | c.4064G>T (p.Gly1355Val) c.3950G>T (p.Gly1317Val) c.2699G>T (p.Gly900Val) n.528G>T c.370G>T n.146G>T n.3001G>T c.4019G>T (p.Gly1340Val) c.3647G>T (p.Gly1216Val) c.4010G>T (p.Gly1337Val) c.3311G>T (p.Gly1104Val) c.4058G>T (p.Gly1353Val) | dbSNP |
16 | g.3740468C>G | CA394565343 | CREBBP | c.4064G>C (p.Gly1355Ala) c.3950G>C (p.Gly1317Ala) c.2699G>C (p.Gly900Ala) n.528G>C c.370G>C n.146G>C n.3001G>C c.4019G>C (p.Gly1340Ala) c.3647G>C (p.Gly1216Ala) c.4010G>C (p.Gly1337Ala) c.3311G>C (p.Gly1104Ala) c.4058G>C (p.Gly1353Ala) | dbSNP |
16 | g.3740468C>T | CA394565344 | CREBBP | c.4064G>A (p.Gly1355Glu) c.3950G>A (p.Gly1317Glu) c.2699G>A (p.Gly900Glu) n.528G>A c.370G>A n.146G>A n.3001G>A c.4019G>A (p.Gly1340Glu) c.3647G>A (p.Gly1216Glu) c.4010G>A (p.Gly1337Glu) c.3311G>A (p.Gly1104Glu) c.4058G>A (p.Gly1353Glu) | dbSNP |
16 | g.3740469C>A | CA394565345 | CREBBP | c.4063G>T (p.Gly1355Trp) c.3949G>T (p.Gly1317Trp) c.2698G>T (p.Gly900Trp) n.527G>T c.369G>T n.145G>T n.3000G>T c.4018G>T (p.Gly1340Trp) c.3646G>T (p.Gly1216Trp) c.4009G>T (p.Gly1337Trp) c.3310G>T (p.Gly1104Trp) c.4057G>T (p.Gly1353Trp) | dbSNP |
16 | g.3740469C= | CA2202940864 | CREBBP | c.4063G= (p.Gly1355=) c.3949G= (p.Gly1317=) c.2698G= (p.Gly900=) n.527G= c.369G= n.145G= n.3000G= c.4018G= (p.Gly1340=) c.3646G= (p.Gly1216=) c.4009G= (p.Gly1337=) c.3310G= (p.Gly1104=) c.4057G= (p.Gly1353=) | |
16 | g.3740469C>G | CA394565346 | CREBBP | c.4063G>C (p.Gly1355Arg) c.3949G>C (p.Gly1317Arg) c.2698G>C (p.Gly900Arg) n.527G>C c.369G>C n.145G>C n.3000G>C c.4018G>C (p.Gly1340Arg) c.3646G>C (p.Gly1216Arg) c.4009G>C (p.Gly1337Arg) c.3310G>C (p.Gly1104Arg) c.4057G>C (p.Gly1353Arg) | |
16 | g.3740469C>T | CA7869626 | CREBBP | c.4063G>A (p.Gly1355Arg) c.3949G>A (p.Gly1317Arg) c.2698G>A (p.Gly900Arg) n.527G>A c.369G>A n.145G>A n.3000G>A c.4018G>A (p.Gly1340Arg) c.3646G>A (p.Gly1216Arg) c.4009G>A (p.Gly1337Arg) c.3310G>A (p.Gly1104Arg) c.4057G>A (p.Gly1353Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3740470G>A | CA7869627 | CREBBP | c.4062C>T (p.Ala1354=) c.3948C>T (p.Ala1316=) c.2697C>T (p.Ala899=) n.526C>T c.368C>T n.144C>T n.2999C>T c.4017C>T (p.Ala1339=) c.3645C>T (p.Ala1215=) c.4008C>T (p.Ala1336=) c.3309C>T (p.Ala1103=) c.4056C>T (p.Ala1352=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3740470G>C | CA493280383 | CREBBP | c.4062C>G (p.Ala1354=) c.3948C>G (p.Ala1316=) c.2697C>G (p.Ala899=) n.526C>G c.368C>G n.144C>G n.2999C>G c.4017C>G (p.Ala1339=) c.3645C>G (p.Ala1215=) c.4008C>G (p.Ala1336=) c.3309C>G (p.Ala1103=) c.4056C>G (p.Ala1352=) | ClinVar dbSNP gnomAD v4 |
16 | g.3740470G= | CA2202940866 | CREBBP | c.4062C= (p.Ala1354=) c.3948C= (p.Ala1316=) c.2697C= (p.Ala899=) n.526C= c.368C= n.144C= n.2999C= c.4017C= (p.Ala1339=) c.3645C= (p.Ala1215=) c.4008C= (p.Ala1336=) c.3309C= (p.Ala1103=) c.4056C= (p.Ala1352=) | |
16 | g.3740470G>T | CA493280384 | CREBBP | c.4062C>A (p.Ala1354=) c.3948C>A (p.Ala1316=) c.2697C>A (p.Ala899=) n.526C>A c.368C>A n.144C>A n.2999C>A c.4017C>A (p.Ala1339=) c.3645C>A (p.Ala1215=) c.4008C>A (p.Ala1336=) c.3309C>A (p.Ala1103=) c.4056C>A (p.Ala1352=) | dbSNP |
16 | g.3740471G>A | CA394565347 | CREBBP | c.4061C>T (p.Ala1354Val) c.3947C>T (p.Ala1316Val) c.2696C>T (p.Ala899Val) n.525C>T c.367C>T n.143C>T n.2998C>T c.4016C>T (p.Ala1339Val) c.3644C>T (p.Ala1215Val) c.4007C>T (p.Ala1336Val) c.3308C>T (p.Ala1103Val) c.4055C>T (p.Ala1352Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
16 | g.3740471G>C | CA394565348 | CREBBP | c.4061C>G (p.Ala1354Gly) c.3947C>G (p.Ala1316Gly) c.2696C>G (p.Ala899Gly) n.525C>G c.367C>G n.143C>G n.2998C>G c.4016C>G (p.Ala1339Gly) c.3644C>G (p.Ala1215Gly) c.4007C>G (p.Ala1336Gly) c.3308C>G (p.Ala1103Gly) c.4055C>G (p.Ala1352Gly) | dbSNP |
16 | g.3740471G= | CA2202940869 | CREBBP | c.4061C= (p.Ala1354=) c.3947C= (p.Ala1316=) c.2696C= (p.Ala899=) n.525C= c.367C= n.143C= n.2998C= c.4016C= (p.Ala1339=) c.3644C= (p.Ala1215=) c.4007C= (p.Ala1336=) c.3308C= (p.Ala1103=) c.4055C= (p.Ala1352=) | |
16 | g.3740471G>T | CA394565349 | CREBBP | c.4061C>A (p.Ala1354Asp) c.3947C>A (p.Ala1316Asp) c.2696C>A (p.Ala899Asp) n.525C>A c.367C>A n.143C>A n.2998C>A c.4016C>A (p.Ala1339Asp) c.3644C>A (p.Ala1215Asp) c.4007C>A (p.Ala1336Asp) c.3308C>A (p.Ala1103Asp) c.4055C>A (p.Ala1352Asp) | dbSNP |
16 | g.3740472C>A | CA394565352 | CREBBP | c.4060G>T (p.Ala1354Ser) c.3946G>T (p.Ala1316Ser) c.2695G>T (p.Ala899Ser) n.524G>T c.366G>T n.142G>T n.2997G>T c.4015G>T (p.Ala1339Ser) c.3643G>T (p.Ala1215Ser) c.4006G>T (p.Ala1336Ser) c.3307G>T (p.Ala1103Ser) c.4054G>T (p.Ala1352Ser) | dbSNP |
16 | g.3740472C= | CA2202940870 | CREBBP | c.4060G= (p.Ala1354=) c.3946G= (p.Ala1316=) c.2695G= (p.Ala899=) n.524G= c.366G= n.142G= n.2997G= c.4015G= (p.Ala1339=) c.3643G= (p.Ala1215=) c.4006G= (p.Ala1336=) c.3307G= (p.Ala1103=) c.4054G= (p.Ala1352=) | |
16 | g.3740472C>G | CA394565351 | CREBBP | c.4060G>C (p.Ala1354Pro) c.3946G>C (p.Ala1316Pro) c.2695G>C (p.Ala899Pro) n.524G>C c.366G>C n.142G>C n.2997G>C c.4015G>C (p.Ala1339Pro) c.3643G>C (p.Ala1215Pro) c.4006G>C (p.Ala1336Pro) c.3307G>C (p.Ala1103Pro) c.4054G>C (p.Ala1352Pro) | dbSNP |
16 | g.3740472C>T | CA394565350 | CREBBP | c.4060G>A (p.Ala1354Thr) c.3946G>A (p.Ala1316Thr) c.2695G>A (p.Ala899Thr) n.524G>A c.366G>A n.142G>A n.2997G>A c.4015G>A (p.Ala1339Thr) c.3643G>A (p.Ala1215Thr) c.4006G>A (p.Ala1336Thr) c.3307G>A (p.Ala1103Thr) c.4054G>A (p.Ala1352Thr) | dbSNP |
16 | g.3740473T>A | CA394565353 | CREBBP | c.4059A>T (p.Glu1353Asp) c.3945A>T (p.Glu1315Asp) c.2694A>T (p.Glu898Asp) n.523A>T c.365A>T n.141A>T n.2996A>T c.4014A>T (p.Glu1338Asp) c.3642A>T (p.Glu1214Asp) c.4005A>T (p.Glu1335Asp) c.3306A>T (p.Glu1102Asp) c.4053A>T (p.Glu1351Asp) | dbSNP |
16 | g.3740473T>C | CA493280385 | CREBBP | c.4059A>G (p.Glu1353=) c.3945A>G (p.Glu1315=) c.2694A>G (p.Glu898=) n.523A>G c.365A>G n.141A>G n.2996A>G c.4014A>G (p.Glu1338=) c.3642A>G (p.Glu1214=) c.4005A>G (p.Glu1335=) c.3306A>G (p.Glu1102=) c.4053A>G (p.Glu1351=) | gnomAD v4 |
16 | g.3740473T>G | CA394565354 | CREBBP | c.4059A>C (p.Glu1353Asp) c.3945A>C (p.Glu1315Asp) c.2694A>C (p.Glu898Asp) n.523A>C c.365A>C n.141A>C n.2996A>C c.4014A>C (p.Glu1338Asp) c.3642A>C (p.Glu1214Asp) c.4005A>C (p.Glu1335Asp) c.3306A>C (p.Glu1102Asp) c.4053A>C (p.Glu1351Asp) | |
16 | g.3740474T>A | CA394565355 | CREBBP | c.4058A>T (p.Glu1353Val) c.3944A>T (p.Glu1315Val) c.2693A>T (p.Glu898Val) n.522A>T c.364A>T n.140A>T n.2995A>T c.4013A>T (p.Glu1338Val) c.3641A>T (p.Glu1214Val) c.4004A>T (p.Glu1335Val) c.3305A>T (p.Glu1102Val) c.4052A>T (p.Glu1351Val) | dbSNP |
16 | g.3740474T>C | CA394565356 | CREBBP | c.4058A>G (p.Glu1353Gly) c.3944A>G (p.Glu1315Gly) c.2693A>G (p.Glu898Gly) n.522A>G c.364A>G n.140A>G n.2995A>G c.4013A>G (p.Glu1338Gly) c.3641A>G (p.Glu1214Gly) c.4004A>G (p.Glu1335Gly) c.3305A>G (p.Glu1102Gly) c.4052A>G (p.Glu1351Gly) | dbSNP |
16 | g.3740474T>G | CA394565357 | CREBBP | c.4058A>C (p.Glu1353Ala) c.3944A>C (p.Glu1315Ala) c.2693A>C (p.Glu898Ala) n.522A>C c.364A>C n.140A>C n.2995A>C c.4013A>C (p.Glu1338Ala) c.3641A>C (p.Glu1214Ala) c.4004A>C (p.Glu1335Ala) c.3305A>C (p.Glu1102Ala) c.4052A>C (p.Glu1351Ala) | gnomAD v4 |
16 | g.3740474_3740488delinsTCAGGGTGATTCTGG | CA2202940871 | CREBBP | c.4044_4058delinsCCAGAATCACCCTGA (p.Arg1348=) c.3930_3944delinsCCAGAATCACCCTGA (p.Arg1310=) c.2679_2693delinsCCAGAATCACCCTGA (p.Arg893=) n.508_522delinsCCAGAATCACCCTGA c.350_364delinsCCAGAATCACCCTGA n.126_140delinsCCAGAATCACCCTGA n.2981_2995delinsCCAGAATCACCCTGA c.3999_4013delinsCCAGAATCACCCTGA (p.Arg1333=) c.3627_3641delinsCCAGAATCACCCTGA (p.Arg1209=) c.3990_4004delinsCCAGAATCACCCTGA (p.Arg1330=) c.3291_3305delinsCCAGAATCACCCTGA (p.Arg1097=) c.4038_4052delinsCCAGAATCACCCTGA (p.Arg1346=) | |
16 | g.3740475C>A | CA394565358 | CREBBP | c.4057G>T (p.Glu1353Ter) c.3943G>T (p.Glu1315Ter) c.2692G>T (p.Glu898Ter) n.521G>T c.363G>T n.139G>T n.2994G>T c.4012G>T (p.Glu1338Ter) c.3640G>T (p.Glu1214Ter) c.4003G>T (p.Glu1335Ter) c.3304G>T (p.Glu1102Ter) c.4051G>T (p.Glu1351Ter) | dbSNP |
16 | g.3740475C>G | CA394565359 | CREBBP | c.4057G>C (p.Glu1353Gln) c.3943G>C (p.Glu1315Gln) c.2692G>C (p.Glu898Gln) n.521G>C c.363G>C n.139G>C n.2994G>C c.4012G>C (p.Glu1338Gln) c.3640G>C (p.Glu1214Gln) c.4003G>C (p.Glu1335Gln) c.3304G>C (p.Glu1102Gln) c.4051G>C (p.Glu1351Gln) | dbSNP |
16 | g.3740475C>T | CA394565360 | CREBBP | c.4057G>A (p.Glu1353Lys) c.3943G>A (p.Glu1315Lys) c.2692G>A (p.Glu898Lys) n.521G>A c.363G>A n.139G>A n.2994G>A c.4012G>A (p.Glu1338Lys) c.3640G>A (p.Glu1214Lys) c.4003G>A (p.Glu1335Lys) c.3304G>A (p.Glu1102Lys) c.4051G>A (p.Glu1351Lys) | dbSNP |
16 | g.3740476_3740489del | CA658798531 | CREBBP | c.4044_4057del (p.Gln1349SerfsTer?) c.3930_3943del (p.Gln1311SerfsTer?) c.2679_2692del (p.Gln894SerfsTer?) n.508_521del c.350_363del n.126_139del n.2981_2994del c.3999_4012del (p.Gln1334SerfsTer?) c.3627_3640del (p.Gln1210SerfsTer?) c.3990_4003del (p.Gln1331SerfsTer?) c.3291_3304del (p.Gln1098SerfsTer?) c.4038_4051del (p.Gln1347SerfsTer?) | ClinVar dbSNP |
16 | g.3740476A>C | CA493280386 | CREBBP | c.4056T>G (p.Pro1352=) c.3942T>G (p.Pro1314=) c.2691T>G (p.Pro897=) n.520T>G c.362T>G n.138T>G n.2993T>G c.4011T>G (p.Pro1337=) c.3639T>G (p.Pro1213=) c.4002T>G (p.Pro1334=) c.3303T>G (p.Pro1101=) c.4050T>G (p.Pro1350=) | gnomAD v4 |
16 | g.3740476A>G | CA493280388 | CREBBP | c.4056T>C (p.Pro1352=) c.3942T>C (p.Pro1314=) c.2691T>C (p.Pro897=) n.520T>C c.362T>C n.138T>C n.2993T>C c.4011T>C (p.Pro1337=) c.3639T>C (p.Pro1213=) c.4002T>C (p.Pro1334=) c.3303T>C (p.Pro1101=) c.4050T>C (p.Pro1350=) | dbSNP gnomAD v4 |
16 | g.3740476A>T | CA493280387 | CREBBP | c.4056T>A (p.Pro1352=) c.3942T>A (p.Pro1314=) c.2691T>A (p.Pro897=) n.520T>A c.362T>A n.138T>A n.2993T>A c.4011T>A (p.Pro1337=) c.3639T>A (p.Pro1213=) c.4002T>A (p.Pro1334=) c.3303T>A (p.Pro1101=) c.4050T>A (p.Pro1350=) | dbSNP |
16 | g.3740477G>A | CA394565361 | CREBBP | c.4055C>T (p.Pro1352Leu) c.3941C>T (p.Pro1314Leu) c.2690C>T (p.Pro897Leu) n.519C>T c.361C>T n.137C>T n.2992C>T c.4010C>T (p.Pro1337Leu) c.3638C>T (p.Pro1213Leu) c.4001C>T (p.Pro1334Leu) c.3302C>T (p.Pro1101Leu) c.4049C>T (p.Pro1350Leu) | dbSNP |
16 | g.3740477G>C | CA394565362 | CREBBP | c.4055C>G (p.Pro1352Arg) c.3941C>G (p.Pro1314Arg) c.2690C>G (p.Pro897Arg) n.519C>G c.361C>G n.137C>G n.2992C>G c.4010C>G (p.Pro1337Arg) c.3638C>G (p.Pro1213Arg) c.4001C>G (p.Pro1334Arg) c.3302C>G (p.Pro1101Arg) c.4049C>G (p.Pro1350Arg) | dbSNP gnomAD v4 |
16 | g.3740477G>T | CA394565363 | CREBBP | c.4055C>A (p.Pro1352His) c.3941C>A (p.Pro1314His) c.2690C>A (p.Pro897His) n.519C>A c.361C>A n.137C>A n.2992C>A c.4010C>A (p.Pro1337His) c.3638C>A (p.Pro1213His) c.4001C>A (p.Pro1334His) c.3302C>A (p.Pro1101His) c.4049C>A (p.Pro1350His) | dbSNP gnomAD v4 |
16 | g.3740478G>A | CA394565364 | CREBBP | c.4054C>T (p.Pro1352Ser) c.3940C>T (p.Pro1314Ser) c.2689C>T (p.Pro897Ser) n.518C>T c.360C>T n.136C>T n.2991C>T c.4009C>T (p.Pro1337Ser) c.3637C>T (p.Pro1213Ser) c.4000C>T (p.Pro1334Ser) c.3301C>T (p.Pro1101Ser) c.4048C>T (p.Pro1350Ser) | dbSNP |
16 | g.3740478G>C | CA394565365 | CREBBP | c.4054C>G (p.Pro1352Ala) c.3940C>G (p.Pro1314Ala) c.2689C>G (p.Pro897Ala) n.518C>G c.360C>G n.136C>G n.2991C>G c.4009C>G (p.Pro1337Ala) c.3637C>G (p.Pro1213Ala) c.4000C>G (p.Pro1334Ala) c.3301C>G (p.Pro1101Ala) c.4048C>G (p.Pro1350Ala) | dbSNP |
16 | g.3740478G>T | CA394565366 | CREBBP | c.4054C>A (p.Pro1352Thr) c.3940C>A (p.Pro1314Thr) c.2689C>A (p.Pro897Thr) n.518C>A c.360C>A n.136C>A n.2991C>A c.4009C>A (p.Pro1337Thr) c.3637C>A (p.Pro1213Thr) c.4000C>A (p.Pro1334Thr) c.3301C>A (p.Pro1101Thr) c.4048C>A (p.Pro1350Thr) | dbSNP |
16 | g.3740478_3740479insCTTTGGAAGGCCAAGGCAGGCGGATCTCGAGGTCAGGAAATCAAGACCAACCTGGCTAACACG | CA2805633186 | CREBBP | c.4054_4055insGTGTTAGCCAGGTTGGTCTTGATTTCCTGACCTCGAGATCCGCCTGCCTTGGCCTTCCAAAGC (p.His1351_Pro1352insArgValSerGlnValGlyLeuAspPheLeuThrSerArgSerAlaCysLeuGlyLeuProLys) c.3940_3941insGTGTTAGCCAGGTTGGTCTTGATTTCCTGACCTCGAGATCCGCCTGCCTTGGCCTTCCAAAGC (p.His1313_Pro1314insArgValSerGlnValGlyLeuAspPheLeuThrSerArgSerAlaCysLeuGlyLeuProLys) c.2689_2690insGTGTTAGCCAGGTTGGTCTTGATTTCCTGACCTCGAGATCCGCCTGCCTTGGCCTTCCAAAGC (p.His896_Pro897insArgValSerGlnValGlyLeuAspPheLeuThrSerArgSerAlaCysLeuGlyLeuProLys) n.518_519insGTGTTAGCCAGGTTGGTCTTGATTTCCTGACCTCGAGATCCGCCTGCCTTGGCCTTCCAAAGC c.360_361insGTGTTAGCCAGGTTGGTCTTGATTTCCTGACCTCGAGATCCGCCTGCCTTGGCCTTCCAAAGC n.136_137insGTGTTAGCCAGGTTGGTCTTGATTTCCTGACCTCGAGATCCGCCTGCCTTGGCCTTCCAAAGC n.2991_2992insGTGTTAGCCAGGTTGGTCTTGATTTCCTGACCTCGAGATCCGCCTGCCTTGGCCTTCCAAAGC c.4009_4010insGTGTTAGCCAGGTTGGTCTTGATTTCCTGACCTCGAGATCCGCCTGCCTTGGCCTTCCAAAGC (p.His1336_Pro1337insArgValSerGlnValGlyLeuAspPheLeuThrSerArgSerAlaCysLeuGlyLeuProLys) c.3637_3638insGTGTTAGCCAGGTTGGTCTTGATTTCCTGACCTCGAGATCCGCCTGCCTTGGCCTTCCAAAGC (p.His1212_Pro1213insArgValSerGlnValGlyLeuAspPheLeuThrSerArgSerAlaCysLeuGlyLeuProLys) c.4000_4001insGTGTTAGCCAGGTTGGTCTTGATTTCCTGACCTCGAGATCCGCCTGCCTTGGCCTTCCAAAGC (p.His1333_Pro1334insArgValSerGlnValGlyLeuAspPheLeuThrSerArgSerAlaCysLeuGlyLeuProLys) c.3301_3302insGTGTTAGCCAGGTTGGTCTTGATTTCCTGACCTCGAGATCCGCCTGCCTTGGCCTTCCAAAGC (p.His1100_Pro1101insArgValSerGlnValGlyLeuAspPheLeuThrSerArgSerAlaCysLeuGlyLeuProLys) c.4048_4049insGTGTTAGCCAGGTTGGTCTTGATTTCCTGACCTCGAGATCCGCCTGCCTTGGCCTTCCAAAGC (p.His1349_Pro1350insArgValSerGlnValGlyLeuAspPheLeuThrSerArgSerAlaCysLeuGlyLeuProLys) | |
16 | g.3740479G>A | CA493280389 | CREBBP | c.4053C>T (p.His1351=) c.3939C>T (p.His1313=) c.2688C>T (p.His896=) n.517C>T c.359C>T n.135C>T n.2990C>T c.4008C>T (p.His1336=) c.3636C>T (p.His1212=) c.3999C>T (p.His1333=) c.3300C>T (p.His1100=) c.4047C>T (p.His1349=) | dbSNP gnomAD v4 |
16 | g.3740479G>C | CA394565367 | CREBBP | c.4053C>G (p.His1351Gln) c.3939C>G (p.His1313Gln) c.2688C>G (p.His896Gln) n.517C>G c.359C>G n.135C>G n.2990C>G c.4008C>G (p.His1336Gln) c.3636C>G (p.His1212Gln) c.3999C>G (p.His1333Gln) c.3300C>G (p.His1100Gln) c.4047C>G (p.His1349Gln) | dbSNP |
16 | g.3740479G>T | CA394565368 | CREBBP | c.4053C>A (p.His1351Gln) c.3939C>A (p.His1313Gln) c.2688C>A (p.His896Gln) n.517C>A c.359C>A n.135C>A n.2990C>A c.4008C>A (p.His1336Gln) c.3636C>A (p.His1212Gln) c.3999C>A (p.His1333Gln) c.3300C>A (p.His1100Gln) c.4047C>A (p.His1349Gln) | dbSNP |
16 | g.3740480T>A | CA394565369 | CREBBP | c.4052A>T (p.His1351Leu) c.3938A>T (p.His1313Leu) c.2687A>T (p.His896Leu) n.516A>T c.358A>T n.134A>T n.2989A>T c.4007A>T (p.His1336Leu) c.3635A>T (p.His1212Leu) c.3998A>T (p.His1333Leu) c.3299A>T (p.His1100Leu) c.4046A>T (p.His1349Leu) | dbSNP |
16 | g.3740480T>C | CA394565370 | CREBBP | c.4052A>G (p.His1351Arg) c.3938A>G (p.His1313Arg) c.2687A>G (p.His896Arg) n.516A>G c.358A>G n.134A>G n.2989A>G c.4007A>G (p.His1336Arg) c.3635A>G (p.His1212Arg) c.3998A>G (p.His1333Arg) c.3299A>G (p.His1100Arg) c.4046A>G (p.His1349Arg) | ClinVar |
16 | g.3740480T>G | CA394565371 | CREBBP | c.4052A>C (p.His1351Pro) c.3938A>C (p.His1313Pro) c.2687A>C (p.His896Pro) n.516A>C c.358A>C n.134A>C n.2989A>C c.4007A>C (p.His1336Pro) c.3635A>C (p.His1212Pro) c.3998A>C (p.His1333Pro) c.3299A>C (p.His1100Pro) c.4046A>C (p.His1349Pro) | dbSNP |
16 | g.3740480T= | CA2202940875 | CREBBP | c.4052A= (p.His1351=) c.3938A= (p.His1313=) c.2687A= (p.His896=) n.516A= c.358A= n.134A= n.2989A= c.4007A= (p.His1336=) c.3635A= (p.His1212=) c.3998A= (p.His1333=) c.3299A= (p.His1100=) c.4046A= (p.His1349=) | |
16 | g.3740481del | CA493280390 | CREBBP | c.4051del (p.His1351ThrfsTer25) c.3937del (p.His1313ThrfsTer25) c.2686del (p.His896ThrfsTer25) n.515del c.357del n.133del n.2988del c.4006del (p.His1336ThrfsTer25) c.3634del (p.His1212ThrfsTer25) c.3997del (p.His1333ThrfsTer25) c.3298del (p.His1100ThrfsTer25) c.4045del (p.His1349ThrfsTer25) | COSMIC |
16 | g.3740481G>A | CA394565372 | CREBBP | c.4051C>T (p.His1351Tyr) c.3937C>T (p.His1313Tyr) c.2686C>T (p.His896Tyr) n.515C>T c.357C>T n.133C>T n.2988C>T c.4006C>T (p.His1336Tyr) c.3634C>T (p.His1212Tyr) c.3997C>T (p.His1333Tyr) c.3298C>T (p.His1100Tyr) c.4045C>T (p.His1349Tyr) | dbSNP |
16 | g.3740481G>C | CA394565373 | CREBBP | c.4051C>G (p.His1351Asp) c.3937C>G (p.His1313Asp) c.2686C>G (p.His896Asp) n.515C>G c.357C>G n.133C>G n.2988C>G c.4006C>G (p.His1336Asp) c.3634C>G (p.His1212Asp) c.3997C>G (p.His1333Asp) c.3298C>G (p.His1100Asp) c.4045C>G (p.His1349Asp) | dbSNP |
16 | g.3740481G>T | CA394565374 | CREBBP | c.4051C>A (p.His1351Asn) c.3937C>A (p.His1313Asn) c.2686C>A (p.His896Asn) n.515C>A c.357C>A n.133C>A n.2988C>A c.4006C>A (p.His1336Asn) c.3634C>A (p.His1212Asn) c.3997C>A (p.His1333Asn) c.3298C>A (p.His1100Asn) c.4045C>A (p.His1349Asn) | |
16 | g.3740482A= | CA2202940877 | CREBBP | c.4050T= (p.Asn1350=) c.3936T= (p.Asn1312=) c.2685T= (p.Asn895=) n.514T= c.356T= n.132T= n.2987T= c.4005T= (p.Asn1335=) c.3633T= (p.Asn1211=) c.3996T= (p.Asn1332=) c.3297T= (p.Asn1099=) c.4044T= (p.Asn1348=) | |
16 | g.3740482A>C | CA394565375 | CREBBP | c.4050T>G (p.Asn1350Lys) c.3936T>G (p.Asn1312Lys) c.2685T>G (p.Asn895Lys) n.514T>G c.356T>G n.132T>G n.2987T>G c.4005T>G (p.Asn1335Lys) c.3633T>G (p.Asn1211Lys) c.3996T>G (p.Asn1332Lys) c.3297T>G (p.Asn1099Lys) c.4044T>G (p.Asn1348Lys) | dbSNP |
16 | g.3740482A>G | CA493280391 | CREBBP | c.4050T>C (p.Asn1350=) c.3936T>C (p.Asn1312=) c.2685T>C (p.Asn895=) n.514T>C c.356T>C n.132T>C n.2987T>C c.4005T>C (p.Asn1335=) c.3633T>C (p.Asn1211=) c.3996T>C (p.Asn1332=) c.3297T>C (p.Asn1099=) c.4044T>C (p.Asn1348=) | dbSNP |
16 | g.3740482A>T | CA394565376 | CREBBP | c.4050T>A (p.Asn1350Lys) c.3936T>A (p.Asn1312Lys) c.2685T>A (p.Asn895Lys) n.514T>A c.356T>A n.132T>A n.2987T>A c.4005T>A (p.Asn1335Lys) c.3633T>A (p.Asn1211Lys) c.3996T>A (p.Asn1332Lys) c.3297T>A (p.Asn1099Lys) c.4044T>A (p.Asn1348Lys) | ClinVar dbSNP |
16 | g.3740483T>A | CA394565377 | CREBBP | c.4049A>T (p.Asn1350Ile) c.3935A>T (p.Asn1312Ile) c.2684A>T (p.Asn895Ile) n.513A>T c.355A>T n.131A>T n.2986A>T c.4004A>T (p.Asn1335Ile) c.3632A>T (p.Asn1211Ile) c.3995A>T (p.Asn1332Ile) c.3296A>T (p.Asn1099Ile) c.4043A>T (p.Asn1348Ile) | dbSNP |
16 | g.3740483T>C | CA394565378 | CREBBP | c.4049A>G (p.Asn1350Ser) c.3935A>G (p.Asn1312Ser) c.2684A>G (p.Asn895Ser) n.513A>G c.355A>G n.131A>G n.2986A>G c.4004A>G (p.Asn1335Ser) c.3632A>G (p.Asn1211Ser) c.3995A>G (p.Asn1332Ser) c.3296A>G (p.Asn1099Ser) c.4043A>G (p.Asn1348Ser) | |
16 | g.3740483T>G | CA394565379 | CREBBP | c.4049A>C (p.Asn1350Thr) c.3935A>C (p.Asn1312Thr) c.2684A>C (p.Asn895Thr) n.513A>C c.355A>C n.131A>C n.2986A>C c.4004A>C (p.Asn1335Thr) c.3632A>C (p.Asn1211Thr) c.3995A>C (p.Asn1332Thr) c.3296A>C (p.Asn1099Thr) c.4043A>C (p.Asn1348Thr) | dbSNP |
16 | g.3740484T>A | CA394565382 | CREBBP | c.4048A>T (p.Asn1350Tyr) c.3934A>T (p.Asn1312Tyr) c.2683A>T (p.Asn895Tyr) n.512A>T c.354A>T n.130A>T n.2985A>T c.4003A>T (p.Asn1335Tyr) c.3631A>T (p.Asn1211Tyr) c.3994A>T (p.Asn1332Tyr) c.3295A>T (p.Asn1099Tyr) c.4042A>T (p.Asn1348Tyr) | dbSNP |
16 | g.3740484T>C | CA394565381 | CREBBP | c.4048A>G (p.Asn1350Asp) c.3934A>G (p.Asn1312Asp) c.2683A>G (p.Asn895Asp) n.512A>G c.354A>G n.130A>G n.2985A>G c.4003A>G (p.Asn1335Asp) c.3631A>G (p.Asn1211Asp) c.3994A>G (p.Asn1332Asp) c.3295A>G (p.Asn1099Asp) c.4042A>G (p.Asn1348Asp) | dbSNP |
16 | g.3740484T>G | CA394565380 | CREBBP | c.4048A>C (p.Asn1350His) c.3934A>C (p.Asn1312His) c.2683A>C (p.Asn895His) n.512A>C c.354A>C n.130A>C n.2985A>C c.4003A>C (p.Asn1335His) c.3631A>C (p.Asn1211His) c.3994A>C (p.Asn1332His) c.3295A>C (p.Asn1099His) c.4042A>C (p.Asn1348His) | dbSNP |
16 | g.3740485C>A | CA394565383 | CREBBP | c.4047G>T (p.Gln1349His) c.3933G>T (p.Gln1311His) c.2682G>T (p.Gln894His) n.511G>T c.353G>T n.129G>T n.2984G>T c.4002G>T (p.Gln1334His) c.3630G>T (p.Gln1210His) c.3993G>T (p.Gln1331His) c.3294G>T (p.Gln1098His) c.4041G>T (p.Gln1347His) | dbSNP |
16 | g.3740485C>G | CA394565384 | CREBBP | c.4047G>C (p.Gln1349His) c.3933G>C (p.Gln1311His) c.2682G>C (p.Gln894His) n.511G>C c.353G>C n.129G>C n.2984G>C c.4002G>C (p.Gln1334His) c.3630G>C (p.Gln1210His) c.3993G>C (p.Gln1331His) c.3294G>C (p.Gln1098His) c.4041G>C (p.Gln1347His) | dbSNP gnomAD v4 |
16 | g.3740485C>T | CA493280392 | CREBBP | c.4047G>A (p.Gln1349=) c.3933G>A (p.Gln1311=) c.2682G>A (p.Gln894=) n.511G>A c.353G>A n.129G>A n.2984G>A c.4002G>A (p.Gln1334=) c.3630G>A (p.Gln1210=) c.3993G>A (p.Gln1331=) c.3294G>A (p.Gln1098=) c.4041G>A (p.Gln1347=) | dbSNP |
16 | g.3740486T>A | CA394565385 | CREBBP | c.4046A>T (p.Gln1349Leu) c.3932A>T (p.Gln1311Leu) c.2681A>T (p.Gln894Leu) n.510A>T c.352A>T n.128A>T n.2983A>T c.4001A>T (p.Gln1334Leu) c.3629A>T (p.Gln1210Leu) c.3992A>T (p.Gln1331Leu) c.3293A>T (p.Gln1098Leu) c.4040A>T (p.Gln1347Leu) | |
16 | g.3740486T>C | CA394565387 | CREBBP | c.4046A>G (p.Gln1349Arg) c.3932A>G (p.Gln1311Arg) c.2681A>G (p.Gln894Arg) n.510A>G c.352A>G n.128A>G n.2983A>G c.4001A>G (p.Gln1334Arg) c.3629A>G (p.Gln1210Arg) c.3992A>G (p.Gln1331Arg) c.3293A>G (p.Gln1098Arg) c.4040A>G (p.Gln1347Arg) | |
16 | g.3740486T>G | CA394565386 | CREBBP | c.4046A>C (p.Gln1349Pro) c.3932A>C (p.Gln1311Pro) c.2681A>C (p.Gln894Pro) n.510A>C c.352A>C n.128A>C n.2983A>C c.4001A>C (p.Gln1334Pro) c.3629A>C (p.Gln1210Pro) c.3992A>C (p.Gln1331Pro) c.3293A>C (p.Gln1098Pro) c.4040A>C (p.Gln1347Pro) | |
16 | g.3740487G>A | CA271403 | CREBBP | c.4045C>T (p.Gln1349Ter) c.3931C>T (p.Gln1311Ter) c.2680C>T (p.Gln894Ter) n.509C>T c.351C>T n.127C>T n.2982C>T c.4000C>T (p.Gln1334Ter) c.3628C>T (p.Gln1210Ter) c.3991C>T (p.Gln1331Ter) c.3292C>T (p.Gln1098Ter) c.4039C>T (p.Gln1347Ter) | ClinVar dbSNP |
16 | g.3740487G>C | CA394565388 | CREBBP | c.4045C>G (p.Gln1349Glu) c.3931C>G (p.Gln1311Glu) c.2680C>G (p.Gln894Glu) n.509C>G c.351C>G n.127C>G n.2982C>G c.4000C>G (p.Gln1334Glu) c.3628C>G (p.Gln1210Glu) c.3991C>G (p.Gln1331Glu) c.3292C>G (p.Gln1098Glu) c.4039C>G (p.Gln1347Glu) | dbSNP |
16 | g.3740487G= | CA2202940883 | CREBBP | c.4045C= (p.Gln1349=) c.3931C= (p.Gln1311=) c.2680C= (p.Gln894=) n.509C= c.351C= n.127C= n.2982C= c.4000C= (p.Gln1334=) c.3628C= (p.Gln1210=) c.3991C= (p.Gln1331=) c.3292C= (p.Gln1098=) c.4039C= (p.Gln1347=) | |
16 | g.3740487G>T | CA394565389 | CREBBP | c.4045C>A (p.Gln1349Lys) c.3931C>A (p.Gln1311Lys) c.2680C>A (p.Gln894Lys) n.509C>A c.351C>A n.127C>A n.2982C>A c.4000C>A (p.Gln1334Lys) c.3628C>A (p.Gln1210Lys) c.3991C>A (p.Gln1331Lys) c.3292C>A (p.Gln1098Lys) c.4039C>A (p.Gln1347Lys) | dbSNP |
16 | g.3740488G>A | CA493280393 | CREBBP | c.4044C>T (p.Arg1348=) c.3930C>T (p.Arg1310=) c.2679C>T (p.Arg893=) n.508C>T c.350C>T n.126C>T n.2981C>T c.3999C>T (p.Arg1333=) c.3627C>T (p.Arg1209=) c.3990C>T (p.Arg1330=) c.3291C>T (p.Arg1097=) c.4038C>T (p.Arg1346=) | gnomAD v4 |
16 | g.3740488G>C | CA493280394 | CREBBP | c.4044C>G (p.Arg1348=) c.3930C>G (p.Arg1310=) c.2679C>G (p.Arg893=) n.508C>G c.350C>G n.126C>G n.2981C>G c.3999C>G (p.Arg1333=) c.3627C>G (p.Arg1209=) c.3990C>G (p.Arg1330=) c.3291C>G (p.Arg1097=) c.4038C>G (p.Arg1346=) | gnomAD v4 |
16 | g.3740488G>T | CA493280395 | CREBBP | c.4044C>A (p.Arg1348=) c.3930C>A (p.Arg1310=) c.2679C>A (p.Arg893=) n.508C>A c.350C>A n.126C>A n.2981C>A c.3999C>A (p.Arg1333=) c.3627C>A (p.Arg1209=) c.3990C>A (p.Arg1330=) c.3291C>A (p.Arg1097=) c.4038C>A (p.Arg1346=) | dbSNP |
16 | g.3740489C>A | CA394565390 | CREBBP | c.4043G>T (p.Arg1348Leu) c.3929G>T (p.Arg1310Leu) c.2678G>T (p.Arg893Leu) n.507G>T c.349G>T n.125G>T n.2980G>T c.3998G>T (p.Arg1333Leu) c.3626G>T (p.Arg1209Leu) c.3989G>T (p.Arg1330Leu) c.3290G>T (p.Arg1097Leu) c.4037G>T (p.Arg1346Leu) | dbSNP gnomAD v4 |
16 | g.3740489C= | CA2202940885 | CREBBP | c.4043G= (p.Arg1348=) c.3929G= (p.Arg1310=) c.2678G= (p.Arg893=) n.507G= c.349G= n.125G= n.2980G= c.3998G= (p.Arg1333=) c.3626G= (p.Arg1209=) c.3989G= (p.Arg1330=) c.3290G= (p.Arg1097=) c.4037G= (p.Arg1346=) | |
16 | g.3740489C>G | CA394565391 | CREBBP | c.4043G>C (p.Arg1348Pro) c.3929G>C (p.Arg1310Pro) c.2678G>C (p.Arg893Pro) n.507G>C c.349G>C n.125G>C n.2980G>C c.3998G>C (p.Arg1333Pro) c.3626G>C (p.Arg1209Pro) c.3989G>C (p.Arg1330Pro) c.3290G>C (p.Arg1097Pro) c.4037G>C (p.Arg1346Pro) | dbSNP |
16 | g.3740489C>T | CA394565392 | CREBBP | c.4043G>A (p.Arg1348His) c.3929G>A (p.Arg1310His) c.2678G>A (p.Arg893His) n.507G>A c.349G>A n.125G>A n.2980G>A c.3998G>A (p.Arg1333His) c.3626G>A (p.Arg1209His) c.3989G>A (p.Arg1330His) c.3290G>A (p.Arg1097His) c.4037G>A (p.Arg1346His) | ClinVar dbSNP gnomAD v2 |
16 | g.3740490G>A | CA394565393 | CREBBP | c.4042C>T (p.Arg1348Cys) c.3928C>T (p.Arg1310Cys) c.2677C>T (p.Arg893Cys) n.506C>T c.348C>T n.124C>T n.2979C>T c.3997C>T (p.Arg1333Cys) c.3625C>T (p.Arg1209Cys) c.3988C>T (p.Arg1330Cys) c.3289C>T (p.Arg1097Cys) c.4036C>T (p.Arg1346Cys) | dbSNP |
16 | g.3740490G>C | CA394565394 | CREBBP | c.4042C>G (p.Arg1348Gly) c.3928C>G (p.Arg1310Gly) c.2677C>G (p.Arg893Gly) n.506C>G c.348C>G n.124C>G n.2979C>G c.3997C>G (p.Arg1333Gly) c.3625C>G (p.Arg1209Gly) c.3988C>G (p.Arg1330Gly) c.3289C>G (p.Arg1097Gly) c.4036C>G (p.Arg1346Gly) | dbSNP |
16 | g.3740490G= | CA2202940887 | CREBBP | c.4042C= (p.Arg1348=) c.3928C= (p.Arg1310=) c.2677C= (p.Arg893=) n.506C= c.348C= n.124C= n.2979C= c.3997C= (p.Arg1333=) c.3625C= (p.Arg1209=) c.3988C= (p.Arg1330=) c.3289C= (p.Arg1097=) c.4036C= (p.Arg1346=) | |
16 | g.3740490G>T | CA394565395 | CREBBP | c.4042C>A (p.Arg1348Ser) c.3928C>A (p.Arg1310Ser) c.2677C>A (p.Arg893Ser) n.506C>A c.348C>A n.124C>A n.2979C>A c.3997C>A (p.Arg1333Ser) c.3625C>A (p.Arg1209Ser) c.3988C>A (p.Arg1330Ser) c.3289C>A (p.Arg1097Ser) c.4036C>A (p.Arg1346Ser) | dbSNP |
16 | g.3740491C>A | CA493280396 | CREBBP | c.4041G>T (p.Arg1347=) c.3927G>T (p.Arg1309=) c.2676G>T (p.Arg892=) n.505G>T c.347G>T n.123G>T n.2978G>T c.3996G>T (p.Arg1332=) c.3624G>T (p.Arg1208=) c.3987G>T (p.Arg1329=) c.3288G>T (p.Arg1096=) c.4035G>T (p.Arg1345=) | dbSNP |
16 | g.3740491C= | CA2202940889 | CREBBP | c.4041G= (p.Arg1347=) c.3927G= (p.Arg1309=) c.2676G= (p.Arg892=) n.505G= c.347G= n.123G= n.2978G= c.3996G= (p.Arg1332=) c.3624G= (p.Arg1208=) c.3987G= (p.Arg1329=) c.3288G= (p.Arg1096=) c.4035G= (p.Arg1345=) | |
16 | g.3740491C>G | CA493280397 | CREBBP | c.4041G>C (p.Arg1347=) c.3927G>C (p.Arg1309=) c.2676G>C (p.Arg892=) n.505G>C c.347G>C n.123G>C n.2978G>C c.3996G>C (p.Arg1332=) c.3624G>C (p.Arg1208=) c.3987G>C (p.Arg1329=) c.3288G>C (p.Arg1096=) c.4035G>C (p.Arg1345=) | dbSNP |
16 | g.3740491C>T | CA493280398 | CREBBP | c.4041G>A (p.Arg1347=) c.3927G>A (p.Arg1309=) c.2676G>A (p.Arg892=) n.505G>A c.347G>A n.123G>A n.2978G>A c.3996G>A (p.Arg1332=) c.3624G>A (p.Arg1208=) c.3987G>A (p.Arg1329=) c.3288G>A (p.Arg1096=) c.4035G>A (p.Arg1345=) | dbSNP |
16 | g.3740492C>A | CA394565396 | CREBBP | c.4040G>T (p.Arg1347Leu) c.3926G>T (p.Arg1309Leu) c.2675G>T (p.Arg892Leu) n.504G>T c.346G>T n.122G>T n.2977G>T c.3995G>T (p.Arg1332Leu) c.3623G>T (p.Arg1208Leu) c.3986G>T (p.Arg1329Leu) c.3287G>T (p.Arg1096Leu) c.4034G>T (p.Arg1345Leu) | dbSNP |
16 | g.3740492C= | CA2202940893 | CREBBP | c.4040G= (p.Arg1347=) c.3926G= (p.Arg1309=) c.2675G= (p.Arg892=) n.504G= c.346G= n.122G= n.2977G= c.3995G= (p.Arg1332=) c.3623G= (p.Arg1208=) c.3986G= (p.Arg1329=) c.3287G= (p.Arg1096=) c.4034G= (p.Arg1345=) | |
16 | g.3740492C>G | CA394565397 | CREBBP | c.4040G>C (p.Arg1347Pro) c.3926G>C (p.Arg1309Pro) c.2675G>C (p.Arg892Pro) n.504G>C c.346G>C n.122G>C n.2977G>C c.3995G>C (p.Arg1332Pro) c.3623G>C (p.Arg1208Pro) c.3986G>C (p.Arg1329Pro) c.3287G>C (p.Arg1096Pro) c.4034G>C (p.Arg1345Pro) | ClinVar dbSNP |
16 | g.3740492C>T | CA394565398 | CREBBP | c.4040G>A (p.Arg1347Gln) c.3926G>A (p.Arg1309Gln) c.2675G>A (p.Arg892Gln) n.504G>A c.346G>A n.122G>A n.2977G>A c.3995G>A (p.Arg1332Gln) c.3623G>A (p.Arg1208Gln) c.3986G>A (p.Arg1329Gln) c.3287G>A (p.Arg1096Gln) c.4034G>A (p.Arg1345Gln) | dbSNP gnomAD v4 |
16 | g.3740493G>A | CA276983219 | CREBBP | c.4039C>T (p.Arg1347Trp) c.3925C>T (p.Arg1309Trp) c.2674C>T (p.Arg892Trp) n.503C>T c.345C>T n.121C>T n.2976C>T c.3994C>T (p.Arg1332Trp) c.3622C>T (p.Arg1208Trp) c.3985C>T (p.Arg1329Trp) c.3286C>T (p.Arg1096Trp) c.4033C>T (p.Arg1345Trp) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
16 | g.3740493G>C | CA394565399 | CREBBP | c.4039C>G (p.Arg1347Gly) c.3925C>G (p.Arg1309Gly) c.2674C>G (p.Arg892Gly) n.503C>G c.345C>G n.121C>G n.2976C>G c.3994C>G (p.Arg1332Gly) c.3622C>G (p.Arg1208Gly) c.3985C>G (p.Arg1329Gly) c.3286C>G (p.Arg1096Gly) c.4033C>G (p.Arg1345Gly) | dbSNP |
16 | g.3740493G= | CA2202940897 | CREBBP | c.4039C= (p.Arg1347=) c.3925C= (p.Arg1309=) c.2674C= (p.Arg892=) n.503C= c.345C= n.121C= n.2976C= c.3994C= (p.Arg1332=) c.3622C= (p.Arg1208=) c.3985C= (p.Arg1329=) c.3286C= (p.Arg1096=) c.4033C= (p.Arg1345=) | |
16 | g.3740493G>T | CA493280399 | CREBBP | c.4039C>A (p.Arg1347=) c.3925C>A (p.Arg1309=) c.2674C>A (p.Arg892=) n.503C>A c.345C>A n.121C>A n.2976C>A c.3994C>A (p.Arg1332=) c.3622C>A (p.Arg1208=) c.3985C>A (p.Arg1329=) c.3286C>A (p.Arg1096=) c.4033C>A (p.Arg1345=) | gnomAD v4 |
16 | g.3740494C>A | CA394565400 | CREBBP | c.4038G>T (p.Leu1346Phe) c.3924G>T (p.Leu1308Phe) c.2673G>T (p.Leu891Phe) n.502G>T c.344G>T n.120G>T n.2975G>T c.3993G>T (p.Leu1331Phe) c.3621G>T (p.Leu1207Phe) c.3984G>T (p.Leu1328Phe) c.3285G>T (p.Leu1095Phe) c.4032G>T (p.Leu1344Phe) | |
16 | g.3740494C>G | CA394565401 | CREBBP | c.4038G>C (p.Leu1346Phe) c.3924G>C (p.Leu1308Phe) c.2673G>C (p.Leu891Phe) n.502G>C c.344G>C n.120G>C n.2975G>C c.3993G>C (p.Leu1331Phe) c.3621G>C (p.Leu1207Phe) c.3984G>C (p.Leu1328Phe) c.3285G>C (p.Leu1095Phe) c.4032G>C (p.Leu1344Phe) | |
16 | g.3740494C>T | CA493280400 | CREBBP | c.4038G>A (p.Leu1346=) c.3924G>A (p.Leu1308=) c.2673G>A (p.Leu891=) n.502G>A c.344G>A n.120G>A n.2975G>A c.3993G>A (p.Leu1331=) c.3621G>A (p.Leu1207=) c.3984G>A (p.Leu1328=) c.3285G>A (p.Leu1095=) c.4032G>A (p.Leu1344=) | gnomAD v4 |
16 | g.3740495A>C | CA394565402 | CREBBP | c.4037T>G (p.Leu1346Trp) c.3923T>G (p.Leu1308Trp) c.2672T>G (p.Leu891Trp) n.501T>G c.343T>G n.119T>G n.2974T>G c.3992T>G (p.Leu1331Trp) c.3620T>G (p.Leu1207Trp) c.3983T>G (p.Leu1328Trp) c.3284T>G (p.Leu1095Trp) c.4031T>G (p.Leu1344Trp) | dbSNP |
16 | g.3740495A>G | CA394565403 | CREBBP | c.4037T>C (p.Leu1346Ser) c.3923T>C (p.Leu1308Ser) c.2672T>C (p.Leu891Ser) n.501T>C c.343T>C n.119T>C n.2974T>C c.3992T>C (p.Leu1331Ser) c.3620T>C (p.Leu1207Ser) c.3983T>C (p.Leu1328Ser) c.3284T>C (p.Leu1095Ser) c.4031T>C (p.Leu1344Ser) | |
16 | g.3740495A>T | CA394565404 | CREBBP | c.4037T>A (p.Leu1346Ter) c.3923T>A (p.Leu1308Ter) c.2672T>A (p.Leu891Ter) n.501T>A c.343T>A n.119T>A n.2974T>A c.3992T>A (p.Leu1331Ter) c.3620T>A (p.Leu1207Ter) c.3983T>A (p.Leu1328Ter) c.3284T>A (p.Leu1095Ter) c.4031T>A (p.Leu1344Ter) | dbSNP |
16 | g.3740496A= | CA2202940900 | CREBBP | c.4036T= (p.Leu1346=) c.3922T= (p.Leu1308=) c.2671T= (p.Leu891=) n.500T= c.342T= n.118T= n.2973T= c.3991T= (p.Leu1331=) c.3619T= (p.Leu1207=) c.3982T= (p.Leu1328=) c.3283T= (p.Leu1095=) c.4030T= (p.Leu1344=) | |
16 | g.3740496A>C | CA394565405 | CREBBP | c.4036T>G (p.Leu1346Val) c.3922T>G (p.Leu1308Val) c.2671T>G (p.Leu891Val) n.500T>G c.342T>G n.118T>G n.2973T>G c.3991T>G (p.Leu1331Val) c.3619T>G (p.Leu1207Val) c.3982T>G (p.Leu1328Val) c.3283T>G (p.Leu1095Val) c.4030T>G (p.Leu1344Val) | |
16 | g.3740496A>G | CA7869628 | CREBBP | c.4036T>C (p.Leu1346=) c.3922T>C (p.Leu1308=) c.2671T>C (p.Leu891=) n.500T>C c.342T>C n.118T>C n.2973T>C c.3991T>C (p.Leu1331=) c.3619T>C (p.Leu1207=) c.3982T>C (p.Leu1328=) c.3283T>C (p.Leu1095=) c.4030T>C (p.Leu1344=) | dbSNP ExAC gnomAD v2 |
16 | g.3740496A>T | CA394565406 | CREBBP | c.4036T>A (p.Leu1346Met) c.3922T>A (p.Leu1308Met) c.2671T>A (p.Leu891Met) n.500T>A c.342T>A n.118T>A n.2973T>A c.3991T>A (p.Leu1331Met) c.3619T>A (p.Leu1207Met) c.3982T>A (p.Leu1328Met) c.3283T>A (p.Leu1095Met) c.4030T>A (p.Leu1344Met) | dbSNP |
16 | g.3740497A>C | CA394565407 | CREBBP | c.4035T>G (p.Phe1345Leu) c.3921T>G (p.Phe1307Leu) c.2670T>G (p.Phe890Leu) n.499T>G c.341T>G n.117T>G n.2972T>G c.3990T>G (p.Phe1330Leu) c.3618T>G (p.Phe1206Leu) c.3981T>G (p.Phe1327Leu) c.3282T>G (p.Phe1094Leu) c.4029T>G (p.Phe1343Leu) | |
16 | g.3740497A>G | CA493280401 | CREBBP | c.4035T>C (p.Phe1345=) c.3921T>C (p.Phe1307=) c.2670T>C (p.Phe890=) n.499T>C c.341T>C n.117T>C n.2972T>C c.3990T>C (p.Phe1330=) c.3618T>C (p.Phe1206=) c.3981T>C (p.Phe1327=) c.3282T>C (p.Phe1094=) c.4029T>C (p.Phe1343=) | dbSNP gnomAD v4 |
16 | g.3740497A>T | CA394565408 | CREBBP | c.4035T>A (p.Phe1345Leu) c.3921T>A (p.Phe1307Leu) c.2670T>A (p.Phe890Leu) n.499T>A c.341T>A n.117T>A n.2972T>A c.3990T>A (p.Phe1330Leu) c.3618T>A (p.Phe1206Leu) c.3981T>A (p.Phe1327Leu) c.3282T>A (p.Phe1094Leu) c.4029T>A (p.Phe1343Leu) | dbSNP |
16 | g.3740498A>C | CA394565409 | CREBBP | c.4034T>G (p.Phe1345Cys) c.3920T>G (p.Phe1307Cys) c.2669T>G (p.Phe890Cys) n.498T>G c.340T>G n.116T>G n.2971T>G c.3989T>G (p.Phe1330Cys) c.3617T>G (p.Phe1206Cys) c.3980T>G (p.Phe1327Cys) c.3281T>G (p.Phe1094Cys) c.4028T>G (p.Phe1343Cys) | dbSNP COSMIC |
16 | g.3740498A>G | CA394565410 | CREBBP | c.4034T>C (p.Phe1345Ser) c.3920T>C (p.Phe1307Ser) c.2669T>C (p.Phe890Ser) n.498T>C c.340T>C n.116T>C n.2971T>C c.3989T>C (p.Phe1330Ser) c.3617T>C (p.Phe1206Ser) c.3980T>C (p.Phe1327Ser) c.3281T>C (p.Phe1094Ser) c.4028T>C (p.Phe1343Ser) | |
16 | g.3740498A>T | CA394565411 | CREBBP | c.4034T>A (p.Phe1345Tyr) c.3920T>A (p.Phe1307Tyr) c.2669T>A (p.Phe890Tyr) n.498T>A c.340T>A n.116T>A n.2971T>A c.3989T>A (p.Phe1330Tyr) c.3617T>A (p.Phe1206Tyr) c.3980T>A (p.Phe1327Tyr) c.3281T>A (p.Phe1094Tyr) c.4028T>A (p.Phe1343Tyr) | dbSNP |
16 | g.3740499A>C | CA394565412 | CREBBP | c.4033T>G (p.Phe1345Val) c.3919T>G (p.Phe1307Val) c.2668T>G (p.Phe890Val) n.497T>G c.339T>G n.115T>G n.2970T>G c.3988T>G (p.Phe1330Val) c.3616T>G (p.Phe1206Val) c.3979T>G (p.Phe1327Val) c.3280T>G (p.Phe1094Val) c.4027T>G (p.Phe1343Val) | dbSNP |
16 | g.3740499A>G | CA394565414 | CREBBP | c.4033T>C (p.Phe1345Leu) c.3919T>C (p.Phe1307Leu) c.2668T>C (p.Phe890Leu) n.497T>C c.339T>C n.115T>C n.2970T>C c.3988T>C (p.Phe1330Leu) c.3616T>C (p.Phe1206Leu) c.3979T>C (p.Phe1327Leu) c.3280T>C (p.Phe1094Leu) c.4027T>C (p.Phe1343Leu) | dbSNP |
16 | g.3740499A>T | CA394565413 | CREBBP | c.4033T>A (p.Phe1345Ile) c.3919T>A (p.Phe1307Ile) c.2668T>A (p.Phe890Ile) n.497T>A c.339T>A n.115T>A n.2970T>A c.3988T>A (p.Phe1330Ile) c.3616T>A (p.Phe1206Ile) c.3979T>A (p.Phe1327Ile) c.3280T>A (p.Phe1094Ile) c.4027T>A (p.Phe1343Ile) | dbSNP |
16 | g.3740500T>A | CA394565415 | CREBBP | c.4032A>T (p.Lys1344Asn) c.3918A>T (p.Lys1306Asn) c.2667A>T (p.Lys889Asn) n.496A>T c.338A>T n.114A>T n.2969A>T c.3987A>T (p.Lys1329Asn) c.3615A>T (p.Lys1205Asn) c.3978A>T (p.Lys1326Asn) c.3279A>T (p.Lys1093Asn) c.4026A>T (p.Lys1342Asn) | dbSNP |
16 | g.3740500T>C | CA493280402 | CREBBP | c.4032A>G (p.Lys1344=) c.3918A>G (p.Lys1306=) c.2667A>G (p.Lys889=) n.496A>G c.338A>G n.114A>G n.2969A>G c.3987A>G (p.Lys1329=) c.3615A>G (p.Lys1205=) c.3978A>G (p.Lys1326=) c.3279A>G (p.Lys1093=) c.4026A>G (p.Lys1342=) | |
16 | g.3740500T>G | CA394565416 | CREBBP | c.4032A>C (p.Lys1344Asn) c.3918A>C (p.Lys1306Asn) c.2667A>C (p.Lys889Asn) n.496A>C c.338A>C n.114A>C n.2969A>C c.3987A>C (p.Lys1329Asn) c.3615A>C (p.Lys1205Asn) c.3978A>C (p.Lys1326Asn) c.3279A>C (p.Lys1093Asn) c.4026A>C (p.Lys1342Asn) | dbSNP |
16 | g.3740501T>A | CA394565417 | CREBBP | c.4031A>T (p.Lys1344Ile) c.3917A>T (p.Lys1306Ile) c.2666A>T (p.Lys889Ile) n.495A>T c.337A>T n.113A>T n.2968A>T c.3986A>T (p.Lys1329Ile) c.3614A>T (p.Lys1205Ile) c.3977A>T (p.Lys1326Ile) c.3278A>T (p.Lys1093Ile) c.4025A>T (p.Lys1342Ile) | |
16 | g.3740501T>C | CA394565418 | CREBBP | c.4031A>G (p.Lys1344Arg) c.3917A>G (p.Lys1306Arg) c.2666A>G (p.Lys889Arg) n.495A>G c.337A>G n.113A>G n.2968A>G c.3986A>G (p.Lys1329Arg) c.3614A>G (p.Lys1205Arg) c.3977A>G (p.Lys1326Arg) c.3278A>G (p.Lys1093Arg) c.4025A>G (p.Lys1342Arg) | |
16 | g.3740501T>G | CA394565419 | CREBBP | c.4031A>C (p.Lys1344Thr) c.3917A>C (p.Lys1306Thr) c.2666A>C (p.Lys889Thr) n.495A>C c.337A>C n.113A>C n.2968A>C c.3986A>C (p.Lys1329Thr) c.3614A>C (p.Lys1205Thr) c.3977A>C (p.Lys1326Thr) c.3278A>C (p.Lys1093Thr) c.4025A>C (p.Lys1342Thr) | |
16 | g.3740502T>A | CA394565420 | CREBBP | c.4030A>T (p.Lys1344Ter) c.3916A>T (p.Lys1306Ter) c.2665A>T (p.Lys889Ter) n.494A>T c.336A>T n.112A>T n.2967A>T c.3985A>T (p.Lys1329Ter) c.3613A>T (p.Lys1205Ter) c.3976A>T (p.Lys1326Ter) c.3277A>T (p.Lys1093Ter) c.4024A>T (p.Lys1342Ter) | dbSNP |
16 | g.3740502T>C | CA394565421 | CREBBP | c.4030A>G (p.Lys1344Glu) c.3916A>G (p.Lys1306Glu) c.2665A>G (p.Lys889Glu) n.494A>G c.336A>G n.112A>G n.2967A>G c.3985A>G (p.Lys1329Glu) c.3613A>G (p.Lys1205Glu) c.3976A>G (p.Lys1326Glu) c.3277A>G (p.Lys1093Glu) c.4024A>G (p.Lys1342Glu) | |
16 | g.3740502T>G | CA394565422 | CREBBP | c.4030A>C (p.Lys1344Gln) c.3916A>C (p.Lys1306Gln) c.2665A>C (p.Lys889Gln) n.494A>C c.336A>C n.112A>C n.2967A>C c.3985A>C (p.Lys1329Gln) c.3613A>C (p.Lys1205Gln) c.3976A>C (p.Lys1326Gln) c.3277A>C (p.Lys1093Gln) c.4024A>C (p.Lys1342Gln) | dbSNP |
16 | g.3740503G>A | CA493280407 | CREBBP | c.4029C>T (p.Asn1343=) c.3915C>T (p.Asn1305=) c.2664C>T (p.Asn888=) n.493C>T c.335C>T n.111C>T n.2966C>T c.3984C>T (p.Asn1328=) c.3612C>T (p.Asn1204=) c.3975C>T (p.Asn1325=) c.3276C>T (p.Asn1092=) c.4023C>T (p.Asn1341=) | dbSNP gnomAD v4 |
16 | g.3740503G>C | CA394565423 | CREBBP | c.4029C>G (p.Asn1343Lys) c.3915C>G (p.Asn1305Lys) c.2664C>G (p.Asn888Lys) n.493C>G c.335C>G n.111C>G n.2966C>G c.3984C>G (p.Asn1328Lys) c.3612C>G (p.Asn1204Lys) c.3975C>G (p.Asn1325Lys) c.3276C>G (p.Asn1092Lys) c.4023C>G (p.Asn1341Lys) | dbSNP |
16 | g.3740503G>T | CA394565424 | CREBBP | c.4029C>A (p.Asn1343Lys) c.3915C>A (p.Asn1305Lys) c.2664C>A (p.Asn888Lys) n.493C>A c.335C>A n.111C>A n.2966C>A c.3984C>A (p.Asn1328Lys) c.3612C>A (p.Asn1204Lys) c.3975C>A (p.Asn1325Lys) c.3276C>A (p.Asn1092Lys) c.4023C>A (p.Asn1341Lys) | dbSNP |
16 | g.3740504T>A | CA394565425 | CREBBP | c.4028A>T (p.Asn1343Ile) c.3914A>T (p.Asn1305Ile) c.2663A>T (p.Asn888Ile) n.492A>T c.334A>T n.110A>T n.2965A>T c.3983A>T (p.Asn1328Ile) c.3611A>T (p.Asn1204Ile) c.3974A>T (p.Asn1325Ile) c.3275A>T (p.Asn1092Ile) c.4022A>T (p.Asn1341Ile) | dbSNP |
16 | g.3740504T>C | CA394565426 | CREBBP | c.4028A>G (p.Asn1343Ser) c.3914A>G (p.Asn1305Ser) c.2663A>G (p.Asn888Ser) n.492A>G c.334A>G n.110A>G n.2965A>G c.3983A>G (p.Asn1328Ser) c.3611A>G (p.Asn1204Ser) c.3974A>G (p.Asn1325Ser) c.3275A>G (p.Asn1092Ser) c.4022A>G (p.Asn1341Ser) | dbSNP gnomAD v4 |
16 | g.3740504T>G | CA394565427 | CREBBP | c.4028A>C (p.Asn1343Thr) c.3914A>C (p.Asn1305Thr) c.2663A>C (p.Asn888Thr) n.492A>C c.334A>C n.110A>C n.2965A>C c.3983A>C (p.Asn1328Thr) c.3611A>C (p.Asn1204Thr) c.3974A>C (p.Asn1325Thr) c.3275A>C (p.Asn1092Thr) c.4022A>C (p.Asn1341Thr) | dbSNP |
16 | g.3740505T>A | CA394565428 | CREBBP | c.4027A>T (p.Asn1343Tyr) c.3913A>T (p.Asn1305Tyr) c.2662A>T (p.Asn888Tyr) n.491A>T c.333A>T n.109A>T n.2964A>T c.3982A>T (p.Asn1328Tyr) c.3610A>T (p.Asn1204Tyr) c.3973A>T (p.Asn1325Tyr) c.3274A>T (p.Asn1092Tyr) c.4021A>T (p.Asn1341Tyr) | dbSNP |
16 | g.3740505T>C | CA394565430 | CREBBP | c.4027A>G (p.Asn1343Asp) c.3913A>G (p.Asn1305Asp) c.2662A>G (p.Asn888Asp) n.491A>G c.333A>G n.109A>G n.2964A>G c.3982A>G (p.Asn1328Asp) c.3610A>G (p.Asn1204Asp) c.3973A>G (p.Asn1325Asp) c.3274A>G (p.Asn1092Asp) c.4021A>G (p.Asn1341Asp) | dbSNP |
16 | g.3740505T>G | CA394565429 | CREBBP | c.4027A>C (p.Asn1343His) c.3913A>C (p.Asn1305His) c.2662A>C (p.Asn888His) n.491A>C c.333A>C n.109A>C n.2964A>C c.3982A>C (p.Asn1328His) c.3610A>C (p.Asn1204His) c.3973A>C (p.Asn1325His) c.3274A>C (p.Asn1092His) c.4021A>C (p.Asn1341His) | |
16 | g.3740506C>A | CA493280416 | CREBBP | c.4026G>T (p.Val1342=) c.3912G>T (p.Val1304=) c.2661G>T (p.Val887=) n.490G>T c.332G>T n.108G>T n.2963G>T c.3981G>T (p.Val1327=) c.3609G>T (p.Val1203=) c.3972G>T (p.Val1324=) c.3273G>T (p.Val1091=) c.4020G>T (p.Val1340=) | dbSNP |
16 | g.3740506C>G | CA493280419 | CREBBP | c.4026G>C (p.Val1342=) c.3912G>C (p.Val1304=) c.2661G>C (p.Val887=) n.490G>C c.332G>C n.108G>C n.2963G>C c.3981G>C (p.Val1327=) c.3609G>C (p.Val1203=) c.3972G>C (p.Val1324=) c.3273G>C (p.Val1091=) c.4020G>C (p.Val1340=) | dbSNP |
16 | g.3740506C>T | CA493280417 | CREBBP | c.4026G>A (p.Val1342=) c.3912G>A (p.Val1304=) c.2661G>A (p.Val887=) n.490G>A c.332G>A n.108G>A n.2963G>A c.3981G>A (p.Val1327=) c.3609G>A (p.Val1203=) c.3972G>A (p.Val1324=) c.3273G>A (p.Val1091=) c.4020G>A (p.Val1340=) | dbSNP |
16 | g.3740507A>C | CA394565431 | CREBBP | c.4025T>G (p.Val1342Gly) c.3911T>G (p.Val1304Gly) c.2660T>G (p.Val887Gly) n.489T>G c.331T>G n.107T>G n.2962T>G c.3980T>G (p.Val1327Gly) c.3608T>G (p.Val1203Gly) c.3971T>G (p.Val1324Gly) c.3272T>G (p.Val1091Gly) c.4019T>G (p.Val1340Gly) | dbSNP |
16 | g.3740507A>G | CA394565432 | CREBBP | c.4025T>C (p.Val1342Ala) c.3911T>C (p.Val1304Ala) c.2660T>C (p.Val887Ala) n.489T>C c.331T>C n.107T>C n.2962T>C c.3980T>C (p.Val1327Ala) c.3608T>C (p.Val1203Ala) c.3971T>C (p.Val1324Ala) c.3272T>C (p.Val1091Ala) c.4019T>C (p.Val1340Ala) | dbSNP |
16 | g.3740507A>T | CA394565433 | CREBBP | c.4025T>A (p.Val1342Glu) c.3911T>A (p.Val1304Glu) c.2660T>A (p.Val887Glu) n.489T>A c.331T>A n.107T>A n.2962T>A c.3980T>A (p.Val1327Glu) c.3608T>A (p.Val1203Glu) c.3971T>A (p.Val1324Glu) c.3272T>A (p.Val1091Glu) c.4019T>A (p.Val1340Glu) | dbSNP |
16 | g.3740508C>A | CA394565434 | CREBBP | c.4024G>T (p.Val1342Leu) c.3910G>T (p.Val1304Leu) c.2659G>T (p.Val887Leu) n.488G>T c.330G>T n.106G>T n.2961G>T c.3979G>T (p.Val1327Leu) c.3607G>T (p.Val1203Leu) c.3970G>T (p.Val1324Leu) c.3271G>T (p.Val1091Leu) c.4018G>T (p.Val1340Leu) | |
16 | g.3740508C>G | CA394565435 | CREBBP | c.4024G>C (p.Val1342Leu) c.3910G>C (p.Val1304Leu) c.2659G>C (p.Val887Leu) n.488G>C c.330G>C n.106G>C n.2961G>C c.3979G>C (p.Val1327Leu) c.3607G>C (p.Val1203Leu) c.3970G>C (p.Val1324Leu) c.3271G>C (p.Val1091Leu) c.4018G>C (p.Val1340Leu) | dbSNP |
16 | g.3740508C>T | CA394565436 | CREBBP | c.4024G>A (p.Val1342Met) c.3910G>A (p.Val1304Met) c.2659G>A (p.Val887Met) n.488G>A c.330G>A n.106G>A n.2961G>A c.3979G>A (p.Val1327Met) c.3607G>A (p.Val1203Met) c.3970G>A (p.Val1324Met) c.3271G>A (p.Val1091Met) c.4018G>A (p.Val1340Met) | dbSNP |
16 | g.3740509T>A | CA493280428 | CREBBP | c.4023A>T (p.Arg1341=) c.3909A>T (p.Arg1303=) c.2658A>T (p.Arg886=) n.487A>T c.329A>T n.105A>T n.2960A>T c.3978A>T (p.Arg1326=) c.3606A>T (p.Arg1202=) c.3969A>T (p.Arg1323=) c.3270A>T (p.Arg1090=) c.4017A>T (p.Arg1339=) | dbSNP |
16 | g.3740509T>C | CA493280429 | CREBBP | c.4023A>G (p.Arg1341=) c.3909A>G (p.Arg1303=) c.2658A>G (p.Arg886=) n.487A>G c.329A>G n.105A>G n.2960A>G c.3978A>G (p.Arg1326=) c.3606A>G (p.Arg1202=) c.3969A>G (p.Arg1323=) c.3270A>G (p.Arg1090=) c.4017A>G (p.Arg1339=) | dbSNP |
16 | g.3740509T>G | CA493280431 | CREBBP | c.4023A>C (p.Arg1341=) c.3909A>C (p.Arg1303=) c.2658A>C (p.Arg886=) n.487A>C c.329A>C n.105A>C n.2960A>C c.3978A>C (p.Arg1326=) c.3606A>C (p.Arg1202=) c.3969A>C (p.Arg1323=) c.3270A>C (p.Arg1090=) c.4017A>C (p.Arg1339=) | |
16 | g.3740510C>A | CA394565437 | CREBBP | c.4022G>T (p.Arg1341Leu) c.3908G>T (p.Arg1303Leu) c.2657G>T (p.Arg886Leu) n.486G>T c.328G>T n.104G>T n.2959G>T c.3977G>T (p.Arg1326Leu) c.3605G>T (p.Arg1202Leu) c.3968G>T (p.Arg1323Leu) c.3269G>T (p.Arg1090Leu) c.4016G>T (p.Arg1339Leu) | |
16 | g.3740510C= | CA2202940904 | CREBBP | c.4022G= (p.Arg1341=) c.3908G= (p.Arg1303=) c.2657G= (p.Arg886=) n.486G= c.328G= n.104G= n.2959G= c.3977G= (p.Arg1326=) c.3605G= (p.Arg1202=) c.3968G= (p.Arg1323=) c.3269G= (p.Arg1090=) c.4016G= (p.Arg1339=) | |
16 | g.3740510C>G | CA271401 | CREBBP | c.4022G>C (p.Arg1341Pro) c.3908G>C (p.Arg1303Pro) c.2657G>C (p.Arg886Pro) n.486G>C c.328G>C n.104G>C n.2959G>C c.3977G>C (p.Arg1326Pro) c.3605G>C (p.Arg1202Pro) c.3968G>C (p.Arg1323Pro) c.3269G>C (p.Arg1090Pro) c.4016G>C (p.Arg1339Pro) | ClinVar dbSNP |
16 | g.3740510C>T | CA394565438 | CREBBP | c.4022G>A (p.Arg1341Gln) c.3908G>A (p.Arg1303Gln) c.2657G>A (p.Arg886Gln) n.486G>A c.328G>A n.104G>A n.2959G>A c.3977G>A (p.Arg1326Gln) c.3605G>A (p.Arg1202Gln) c.3968G>A (p.Arg1323Gln) c.3269G>A (p.Arg1090Gln) c.4016G>A (p.Arg1339Gln) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
16 | g.3740511G>A | CA394565439 | CREBBP | c.4021C>T (p.Arg1341Ter) c.3907C>T (p.Arg1303Ter) c.2656C>T (p.Arg886Ter) n.485C>T c.327C>T n.103C>T n.2958C>T c.3976C>T (p.Arg1326Ter) c.3604C>T (p.Arg1202Ter) c.3967C>T (p.Arg1323Ter) c.3268C>T (p.Arg1090Ter) c.4015C>T (p.Arg1339Ter) | ClinVar dbSNP COSMIC |
16 | g.3740511G>C | CA394565440 | CREBBP | c.4021C>G (p.Arg1341Gly) c.3907C>G (p.Arg1303Gly) c.2656C>G (p.Arg886Gly) n.485C>G c.327C>G n.103C>G n.2958C>G c.3976C>G (p.Arg1326Gly) c.3604C>G (p.Arg1202Gly) c.3967C>G (p.Arg1323Gly) c.3268C>G (p.Arg1090Gly) c.4015C>G (p.Arg1339Gly) | dbSNP |
16 | g.3740511G= | CA2202940907 | CREBBP | c.4021C= (p.Arg1341=) c.3907C= (p.Arg1303=) c.2656C= (p.Arg886=) n.485C= c.327C= n.103C= n.2958C= c.3976C= (p.Arg1326=) c.3604C= (p.Arg1202=) c.3967C= (p.Arg1323=) c.3268C= (p.Arg1090=) c.4015C= (p.Arg1339=) | |
16 | g.3740511G>T | CA493280437 | CREBBP | c.4021C>A (p.Arg1341=) c.3907C>A (p.Arg1303=) c.2656C>A (p.Arg886=) n.485C>A c.327C>A n.103C>A n.2958C>A c.3976C>A (p.Arg1326=) c.3604C>A (p.Arg1202=) c.3967C>A (p.Arg1323=) c.3268C>A (p.Arg1090=) c.4015C>A (p.Arg1339=) | dbSNP gnomAD v2 |
16 | g.3740512G>A | CA493280441 | CREBBP | c.4020C>T (p.Asp1340=) c.3906C>T (p.Asp1302=) c.2655C>T (p.Asp885=) n.484C>T c.326C>T n.102C>T n.2957C>T c.3975C>T (p.Asp1325=) c.3603C>T (p.Asp1201=) c.3966C>T (p.Asp1322=) c.3267C>T (p.Asp1089=) c.4014C>T (p.Asp1338=) | ClinVar dbSNP gnomAD v4 |
16 | g.3740512G>C | CA394565441 | CREBBP | c.4020C>G (p.Asp1340Glu) c.3906C>G (p.Asp1302Glu) c.2655C>G (p.Asp885Glu) n.484C>G c.326C>G n.102C>G n.2957C>G c.3975C>G (p.Asp1325Glu) c.3603C>G (p.Asp1201Glu) c.3966C>G (p.Asp1322Glu) c.3267C>G (p.Asp1089Glu) c.4014C>G (p.Asp1338Glu) | dbSNP |
16 | g.3740512G= | CA2202940912 | CREBBP | c.4020C= (p.Asp1340=) c.3906C= (p.Asp1302=) c.2655C= (p.Asp885=) n.484C= c.326C= n.102C= n.2957C= c.3975C= (p.Asp1325=) c.3603C= (p.Asp1201=) c.3966C= (p.Asp1322=) c.3267C= (p.Asp1089=) c.4014C= (p.Asp1338=) | |
16 | g.3740512G>T | CA394565442 | CREBBP | c.4020C>A (p.Asp1340Glu) c.3906C>A (p.Asp1302Glu) c.2655C>A (p.Asp885Glu) n.484C>A c.326C>A n.102C>A n.2957C>A c.3975C>A (p.Asp1325Glu) c.3603C>A (p.Asp1201Glu) c.3966C>A (p.Asp1322Glu) c.3267C>A (p.Asp1089Glu) c.4014C>A (p.Asp1338Glu) | dbSNP |
16 | g.3740513T>A | CA394565443 | CREBBP | c.4019A>T (p.Asp1340Val) c.3905A>T (p.Asp1302Val) c.2654A>T (p.Asp885Val) n.483A>T c.325A>T n.101A>T n.2956A>T c.3974A>T (p.Asp1325Val) c.3602A>T (p.Asp1201Val) c.3965A>T (p.Asp1322Val) c.3266A>T (p.Asp1089Val) c.4013A>T (p.Asp1338Val) | dbSNP |
16 | g.3740513T>C | CA394565445 | CREBBP | c.4019A>G (p.Asp1340Gly) c.3905A>G (p.Asp1302Gly) c.2654A>G (p.Asp885Gly) n.483A>G c.325A>G n.101A>G n.2956A>G c.3974A>G (p.Asp1325Gly) c.3602A>G (p.Asp1201Gly) c.3965A>G (p.Asp1322Gly) c.3266A>G (p.Asp1089Gly) c.4013A>G (p.Asp1338Gly) | dbSNP |
16 | g.3740513T>G | CA394565444 | CREBBP | c.4019A>C (p.Asp1340Ala) c.3905A>C (p.Asp1302Ala) c.2654A>C (p.Asp885Ala) n.483A>C c.325A>C n.101A>C n.2956A>C c.3974A>C (p.Asp1325Ala) c.3602A>C (p.Asp1201Ala) c.3965A>C (p.Asp1322Ala) c.3266A>C (p.Asp1089Ala) c.4013A>C (p.Asp1338Ala) | |
16 | g.3740514C>A | CA394565446 | CREBBP | c.4018G>T (p.Asp1340Tyr) c.3904G>T (p.Asp1302Tyr) c.2653G>T (p.Asp885Tyr) n.482G>T c.324G>T n.100G>T n.2955G>T c.3973G>T (p.Asp1325Tyr) c.3601G>T (p.Asp1201Tyr) c.3964G>T (p.Asp1322Tyr) c.3265G>T (p.Asp1089Tyr) c.4012G>T (p.Asp1338Tyr) | |
16 | g.3740514C>G | CA394565447 | CREBBP | c.4018G>C (p.Asp1340His) c.3904G>C (p.Asp1302His) c.2653G>C (p.Asp885His) n.482G>C c.324G>C n.100G>C n.2955G>C c.3973G>C (p.Asp1325His) c.3601G>C (p.Asp1201His) c.3964G>C (p.Asp1322His) c.3265G>C (p.Asp1089His) c.4012G>C (p.Asp1338His) | |
16 | g.3740514C>T | CA394565448 | CREBBP | c.4018G>A (p.Asp1340Asn) c.3904G>A (p.Asp1302Asn) c.2653G>A (p.Asp885Asn) n.482G>A c.324G>A n.100G>A n.2955G>A c.3973G>A (p.Asp1325Asn) c.3601G>A (p.Asp1201Asn) c.3964G>A (p.Asp1322Asn) c.3265G>A (p.Asp1089Asn) c.4012G>A (p.Asp1338Asn) | |
16 | g.3740515T>A | CA394565449 | CREBBP | c.4017A>T (p.Glu1339Asp) c.3903A>T (p.Glu1301Asp) c.2652A>T (p.Glu884Asp) n.481A>T c.323A>T n.99A>T n.2954A>T c.3972A>T (p.Glu1324Asp) c.3600A>T (p.Glu1200Asp) c.3963A>T (p.Glu1321Asp) c.3264A>T (p.Glu1088Asp) c.4011A>T (p.Glu1337Asp) | dbSNP |
16 | g.3740515T>C | CA7869629 | CREBBP | c.4017A>G (p.Glu1339=) c.3903A>G (p.Glu1301=) c.2652A>G (p.Glu884=) n.481A>G c.323A>G n.99A>G n.2954A>G c.3972A>G (p.Glu1324=) c.3600A>G (p.Glu1200=) c.3963A>G (p.Glu1321=) c.3264A>G (p.Glu1088=) c.4011A>G (p.Glu1337=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3740515T>G | CA394565450 | CREBBP | c.4017A>C (p.Glu1339Asp) c.3903A>C (p.Glu1301Asp) c.2652A>C (p.Glu884Asp) n.481A>C c.323A>C n.99A>C n.2954A>C c.3972A>C (p.Glu1324Asp) c.3600A>C (p.Glu1200Asp) c.3963A>C (p.Glu1321Asp) c.3264A>C (p.Glu1088Asp) c.4011A>C (p.Glu1337Asp) | |
16 | g.3740515T= | CA2202940915 | CREBBP | c.4017A= (p.Glu1339=) c.3903A= (p.Glu1301=) c.2652A= (p.Glu884=) n.481A= c.323A= n.99A= n.2954A= c.3972A= (p.Glu1324=) c.3600A= (p.Glu1200=) c.3963A= (p.Glu1321=) c.3264A= (p.Glu1088=) c.4011A= (p.Glu1337=) | |
16 | g.3740516T>A | CA394565451 | CREBBP | c.4016A>T (p.Glu1339Val) c.3902A>T (p.Glu1301Val) c.2651A>T (p.Glu884Val) n.480A>T c.322A>T n.98A>T n.2953A>T c.3971A>T (p.Glu1324Val) c.3599A>T (p.Glu1200Val) c.3962A>T (p.Glu1321Val) c.3263A>T (p.Glu1088Val) c.4010A>T (p.Glu1337Val) | |
16 | g.3740516T>C | CA394565452 | CREBBP | c.4016A>G (p.Glu1339Gly) c.3902A>G (p.Glu1301Gly) c.2651A>G (p.Glu884Gly) n.480A>G c.322A>G n.98A>G n.2953A>G c.3971A>G (p.Glu1324Gly) c.3599A>G (p.Glu1200Gly) c.3962A>G (p.Glu1321Gly) c.3263A>G (p.Glu1088Gly) c.4010A>G (p.Glu1337Gly) | |
16 | g.3740516T>G | CA394565453 | CREBBP | c.4016A>C (p.Glu1339Ala) c.3902A>C (p.Glu1301Ala) c.2651A>C (p.Glu884Ala) n.480A>C c.322A>C n.98A>C n.2953A>C c.3971A>C (p.Glu1324Ala) c.3599A>C (p.Glu1200Ala) c.3962A>C (p.Glu1321Ala) c.3263A>C (p.Glu1088Ala) c.4010A>C (p.Glu1337Ala) | |
16 | g.3740516_3740517insGA | CA2805633190 | CREBBP | c.4015_4016insTC (p.Glu1339ValfsTer5) c.3901_3902insTC (p.Glu1301ValfsTer5) c.2650_2651insTC (p.Glu884ValfsTer5) n.479_480insTC c.321_322insTC n.97_98insTC n.2952_2953insTC c.3970_3971insTC (p.Glu1324ValfsTer5) c.3598_3599insTC (p.Glu1200ValfsTer5) c.3961_3962insTC (p.Glu1321ValfsTer5) c.3262_3263insTC (p.Glu1088ValfsTer5) c.4009_4010insTC (p.Glu1337ValfsTer5) | |
16 | g.3740517C>A | CA394565454 | CREBBP | c.4015G>T (p.Glu1339Ter) c.3901G>T (p.Glu1301Ter) c.2650G>T (p.Glu884Ter) n.479G>T c.321G>T n.97G>T n.2952G>T c.3970G>T (p.Glu1324Ter) c.3598G>T (p.Glu1200Ter) c.3961G>T (p.Glu1321Ter) c.3262G>T (p.Glu1088Ter) c.4009G>T (p.Glu1337Ter) | dbSNP |
16 | g.3740517C>G | CA394565455 | CREBBP | c.4015G>C (p.Glu1339Gln) c.3901G>C (p.Glu1301Gln) c.2650G>C (p.Glu884Gln) n.479G>C c.321G>C n.97G>C n.2952G>C c.3970G>C (p.Glu1324Gln) c.3598G>C (p.Glu1200Gln) c.3961G>C (p.Glu1321Gln) c.3262G>C (p.Glu1088Gln) c.4009G>C (p.Glu1337Gln) | dbSNP |
16 | g.3740517C>T | CA394565456 | CREBBP | c.4015G>A (p.Glu1339Lys) c.3901G>A (p.Glu1301Lys) c.2650G>A (p.Glu884Lys) n.479G>A c.321G>A n.97G>A n.2952G>A c.3970G>A (p.Glu1324Lys) c.3598G>A (p.Glu1200Lys) c.3961G>A (p.Glu1321Lys) c.3262G>A (p.Glu1088Lys) c.4009G>A (p.Glu1337Lys) | dbSNP |
16 | g.3740518C>A | CA394565458 | CREBBP | c.4014G>T (p.Leu1338Phe) c.3900G>T (p.Leu1300Phe) c.2649G>T (p.Leu883Phe) n.478G>T c.320G>T n.96G>T n.2951G>T c.3969G>T (p.Leu1323Phe) c.3597G>T (p.Leu1199Phe) c.3960G>T (p.Leu1320Phe) c.3261G>T (p.Leu1087Phe) c.4008G>T (p.Leu1336Phe) | dbSNP |
16 | g.3740518C= | CA2202940917 | CREBBP | c.4014G= (p.Leu1338=) c.3900G= (p.Leu1300=) c.2649G= (p.Leu883=) n.478G= c.320G= n.96G= n.2951G= c.3969G= (p.Leu1323=) c.3597G= (p.Leu1199=) c.3960G= (p.Leu1320=) c.3261G= (p.Leu1087=) c.4008G= (p.Leu1336=) | |
16 | g.3740518C>G | CA394565457 | CREBBP | c.4014G>C (p.Leu1338Phe) c.3900G>C (p.Leu1300Phe) c.2649G>C (p.Leu883Phe) n.478G>C c.320G>C n.96G>C n.2951G>C c.3969G>C (p.Leu1323Phe) c.3597G>C (p.Leu1199Phe) c.3960G>C (p.Leu1320Phe) c.3261G>C (p.Leu1087Phe) c.4008G>C (p.Leu1336Phe) | dbSNP |
16 | g.3740518C>T | CA493280459 | CREBBP | c.4014G>A (p.Leu1338=) c.3900G>A (p.Leu1300=) c.2649G>A (p.Leu883=) n.478G>A c.320G>A n.96G>A n.2951G>A c.3969G>A (p.Leu1323=) c.3597G>A (p.Leu1199=) c.3960G>A (p.Leu1320=) c.3261G>A (p.Leu1087=) c.4008G>A (p.Leu1336=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3740519A>C | CA394565459 | CREBBP | c.4013T>G (p.Leu1338Trp) c.3899T>G (p.Leu1300Trp) c.2648T>G (p.Leu883Trp) n.477T>G c.319T>G n.95T>G n.2950T>G c.3968T>G (p.Leu1323Trp) c.3596T>G (p.Leu1199Trp) c.3959T>G (p.Leu1320Trp) c.3260T>G (p.Leu1087Trp) c.4007T>G (p.Leu1336Trp) | ClinVar dbSNP |
16 | g.3740519A>G | CA394565460 | CREBBP | c.4013T>C (p.Leu1338Ser) c.3899T>C (p.Leu1300Ser) c.2648T>C (p.Leu883Ser) n.477T>C c.319T>C n.95T>C n.2950T>C c.3968T>C (p.Leu1323Ser) c.3596T>C (p.Leu1199Ser) c.3959T>C (p.Leu1320Ser) c.3260T>C (p.Leu1087Ser) c.4007T>C (p.Leu1336Ser) | COSMIC |
16 | g.3740519A>T | CA394565461 | CREBBP | c.4013T>A (p.Leu1338Ter) c.3899T>A (p.Leu1300Ter) c.2648T>A (p.Leu883Ter) n.477T>A c.319T>A n.95T>A n.2950T>A c.3968T>A (p.Leu1323Ter) c.3596T>A (p.Leu1199Ter) c.3959T>A (p.Leu1320Ter) c.3260T>A (p.Leu1087Ter) c.4007T>A (p.Leu1336Ter) | dbSNP |
16 | g.3740520A= | CA2202940919 | CREBBP | c.4012T= (p.Leu1338=) c.3898T= (p.Leu1300=) c.2647T= (p.Leu883=) n.476T= c.318T= n.94T= n.2949T= c.3967T= (p.Leu1323=) c.3595T= (p.Leu1199=) c.3958T= (p.Leu1320=) c.3259T= (p.Leu1087=) c.4006T= (p.Leu1336=) | |
16 | g.3740520A>C | CA394565462 | CREBBP | c.4012T>G (p.Leu1338Val) c.3898T>G (p.Leu1300Val) c.2647T>G (p.Leu883Val) n.476T>G c.318T>G n.94T>G n.2949T>G c.3967T>G (p.Leu1323Val) c.3595T>G (p.Leu1199Val) c.3958T>G (p.Leu1320Val) c.3259T>G (p.Leu1087Val) c.4006T>G (p.Leu1336Val) | |
16 | g.3740520A>G | CA493280465 | CREBBP | c.4012T>C (p.Leu1338=) c.3898T>C (p.Leu1300=) c.2647T>C (p.Leu883=) n.476T>C c.318T>C n.94T>C n.2949T>C c.3967T>C (p.Leu1323=) c.3595T>C (p.Leu1199=) c.3958T>C (p.Leu1320=) c.3259T>C (p.Leu1087=) c.4006T>C (p.Leu1336=) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.3740520A>T | CA394565463 | CREBBP | c.4012T>A (p.Leu1338Met) c.3898T>A (p.Leu1300Met) c.2647T>A (p.Leu883Met) n.476T>A c.318T>A n.94T>A n.2949T>A c.3967T>A (p.Leu1323Met) c.3595T>A (p.Leu1199Met) c.3958T>A (p.Leu1320Met) c.3259T>A (p.Leu1087Met) c.4006T>A (p.Leu1336Met) | dbSNP |
16 | g.3740521G>A | CA276983232 | CREBBP | c.4011C>T (p.His1337=) c.3897C>T (p.His1299=) c.2646C>T (p.His882=) n.475C>T c.317C>T n.93C>T n.2948C>T c.3966C>T (p.His1322=) c.3594C>T (p.His1198=) c.3957C>T (p.His1319=) c.3258C>T (p.His1086=) c.4005C>T (p.His1335=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3740521G>C | CA394565464 | CREBBP | c.4011C>G (p.His1337Gln) c.3897C>G (p.His1299Gln) c.2646C>G (p.His882Gln) n.475C>G c.317C>G n.93C>G n.2948C>G c.3966C>G (p.His1322Gln) c.3594C>G (p.His1198Gln) c.3957C>G (p.His1319Gln) c.3258C>G (p.His1086Gln) c.4005C>G (p.His1335Gln) | ClinVar dbSNP |
16 | g.3740521G= | CA2202940921 | CREBBP | c.4011C= (p.His1337=) c.3897C= (p.His1299=) c.2646C= (p.His882=) n.475C= c.317C= n.93C= n.2948C= c.3966C= (p.His1322=) c.3594C= (p.His1198=) c.3957C= (p.His1319=) c.3258C= (p.His1086=) c.4005C= (p.His1335=) | |
16 | g.3740521G>T | CA394565465 | CREBBP | c.4011C>A (p.His1337Gln) c.3897C>A (p.His1299Gln) c.2646C>A (p.His882Gln) n.475C>A c.317C>A n.93C>A n.2948C>A c.3966C>A (p.His1322Gln) c.3594C>A (p.His1198Gln) c.3957C>A (p.His1319Gln) c.3258C>A (p.His1086Gln) c.4005C>A (p.His1335Gln) | |
16 | g.3740522T>A | CA394565466 | CREBBP | c.4010A>T (p.His1337Leu) c.3896A>T (p.His1299Leu) c.2645A>T (p.His882Leu) n.474A>T c.316A>T n.92A>T n.2947A>T c.3965A>T (p.His1322Leu) c.3593A>T (p.His1198Leu) c.3956A>T (p.His1319Leu) c.3257A>T (p.His1086Leu) c.4004A>T (p.His1335Leu) | dbSNP |
16 | g.3740522T>C | CA394565467 | CREBBP | c.4010A>G (p.His1337Arg) c.3896A>G (p.His1299Arg) c.2645A>G (p.His882Arg) n.474A>G c.316A>G n.92A>G n.2947A>G c.3965A>G (p.His1322Arg) c.3593A>G (p.His1198Arg) c.3956A>G (p.His1319Arg) c.3257A>G (p.His1086Arg) c.4004A>G (p.His1335Arg) | dbSNP gnomAD v4 |
16 | g.3740522T>G | CA394565468 | CREBBP | c.4010A>C (p.His1337Pro) c.3896A>C (p.His1299Pro) c.2645A>C (p.His882Pro) n.474A>C c.316A>C n.92A>C n.2947A>C c.3965A>C (p.His1322Pro) c.3593A>C (p.His1198Pro) c.3956A>C (p.His1319Pro) c.3257A>C (p.His1086Pro) c.4004A>C (p.His1335Pro) | dbSNP |
16 | g.3740523G>A | CA394565469 | CREBBP | c.4009C>T (p.His1337Tyr) c.3895C>T (p.His1299Tyr) c.2644C>T (p.His882Tyr) n.473C>T c.315C>T n.91C>T n.2946C>T c.3964C>T (p.His1322Tyr) c.3592C>T (p.His1198Tyr) c.3955C>T (p.His1319Tyr) c.3256C>T (p.His1086Tyr) c.4003C>T (p.His1335Tyr) | dbSNP |
16 | g.3740523G>C | CA394565470 | CREBBP | c.4009C>G (p.His1337Asp) c.3895C>G (p.His1299Asp) c.2644C>G (p.His882Asp) n.473C>G c.315C>G n.91C>G n.2946C>G c.3964C>G (p.His1322Asp) c.3592C>G (p.His1198Asp) c.3955C>G (p.His1319Asp) c.3256C>G (p.His1086Asp) c.4003C>G (p.His1335Asp) | dbSNP |
16 | g.3740523G>T | CA394565471 | CREBBP | c.4009C>A (p.His1337Asn) c.3895C>A (p.His1299Asn) c.2644C>A (p.His882Asn) n.473C>A c.315C>A n.91C>A n.2946C>A c.3964C>A (p.His1322Asn) c.3592C>A (p.His1198Asn) c.3955C>A (p.His1319Asn) c.3256C>A (p.His1086Asn) c.4003C>A (p.His1335Asn) | |
16 | g.3740524G>A | CA493280477 | CREBBP | c.4008C>T (p.Asn1336=) c.3894C>T (p.Asn1298=) c.2643C>T (p.Asn881=) n.472C>T c.314C>T n.90C>T n.2945C>T c.3963C>T (p.Asn1321=) c.3591C>T (p.Asn1197=) c.3954C>T (p.Asn1318=) c.3255C>T (p.Asn1085=) c.4002C>T (p.Asn1334=) | |
16 | g.3740524G>C | CA394565472 | CREBBP | c.4008C>G (p.Asn1336Lys) c.3894C>G (p.Asn1298Lys) c.2643C>G (p.Asn881Lys) n.472C>G c.314C>G n.90C>G n.2945C>G c.3963C>G (p.Asn1321Lys) c.3591C>G (p.Asn1197Lys) c.3954C>G (p.Asn1318Lys) c.3255C>G (p.Asn1085Lys) c.4002C>G (p.Asn1334Lys) | COSMIC |
16 | g.3740524G>T | CA394565473 | CREBBP | c.4008C>A (p.Asn1336Lys) c.3894C>A (p.Asn1298Lys) c.2643C>A (p.Asn881Lys) n.472C>A c.314C>A n.90C>A n.2945C>A c.3963C>A (p.Asn1321Lys) c.3591C>A (p.Asn1197Lys) c.3954C>A (p.Asn1318Lys) c.3255C>A (p.Asn1085Lys) c.4002C>A (p.Asn1334Lys) | |
16 | g.3740525T>A | CA394565474 | CREBBP | c.4007A>T (p.Asn1336Ile) c.3893A>T (p.Asn1298Ile) c.2642A>T (p.Asn881Ile) n.471A>T c.313A>T n.89A>T n.2944A>T c.3962A>T (p.Asn1321Ile) c.3590A>T (p.Asn1197Ile) c.3953A>T (p.Asn1318Ile) c.3254A>T (p.Asn1085Ile) c.4001A>T (p.Asn1334Ile) | dbSNP |
16 | g.3740525T>C | CA394565475 | CREBBP | c.4007A>G (p.Asn1336Ser) c.3893A>G (p.Asn1298Ser) c.2642A>G (p.Asn881Ser) n.471A>G c.313A>G n.89A>G n.2944A>G c.3962A>G (p.Asn1321Ser) c.3590A>G (p.Asn1197Ser) c.3953A>G (p.Asn1318Ser) c.3254A>G (p.Asn1085Ser) c.4001A>G (p.Asn1334Ser) | dbSNP |
16 | g.3740525T>G | CA394565476 | CREBBP | c.4007A>C (p.Asn1336Thr) c.3893A>C (p.Asn1298Thr) c.2642A>C (p.Asn881Thr) n.471A>C c.313A>C n.89A>C n.2944A>C c.3962A>C (p.Asn1321Thr) c.3590A>C (p.Asn1197Thr) c.3953A>C (p.Asn1318Thr) c.3254A>C (p.Asn1085Thr) c.4001A>C (p.Asn1334Thr) | |
16 | g.3740526T>A | CA394565477 | CREBBP | c.4006A>T (p.Asn1336Tyr) c.3892A>T (p.Asn1298Tyr) c.2641A>T (p.Asn881Tyr) n.470A>T c.312A>T n.88A>T n.2943A>T c.3961A>T (p.Asn1321Tyr) c.3589A>T (p.Asn1197Tyr) c.3952A>T (p.Asn1318Tyr) c.3253A>T (p.Asn1085Tyr) c.4000A>T (p.Asn1334Tyr) | dbSNP gnomAD v4 |
16 | g.3740526T>C | CA394565478 | CREBBP | c.4006A>G (p.Asn1336Asp) c.3892A>G (p.Asn1298Asp) c.2641A>G (p.Asn881Asp) n.470A>G c.312A>G n.88A>G n.2943A>G c.3961A>G (p.Asn1321Asp) c.3589A>G (p.Asn1197Asp) c.3952A>G (p.Asn1318Asp) c.3253A>G (p.Asn1085Asp) c.4000A>G (p.Asn1334Asp) | dbSNP |
16 | g.3740526T>G | CA394565479 | CREBBP | c.4006A>C (p.Asn1336His) c.3892A>C (p.Asn1298His) c.2641A>C (p.Asn881His) n.470A>C c.312A>C n.88A>C n.2943A>C c.3961A>C (p.Asn1321His) c.3589A>C (p.Asn1197His) c.3952A>C (p.Asn1318His) c.3253A>C (p.Asn1085His) c.4000A>C (p.Asn1334His) | |
16 | g.3740527T>A | CA493280487 | CREBBP | c.4005A>T (p.Gly1335=) c.3891A>T (p.Gly1297=) c.2640A>T (p.Gly880=) n.469A>T c.311A>T n.87A>T n.2942A>T c.3960A>T (p.Gly1320=) c.3588A>T (p.Gly1196=) c.3951A>T (p.Gly1317=) c.3252A>T (p.Gly1084=) c.3999A>T (p.Gly1333=) | dbSNP |
16 | g.3740527T>C | CA493280489 | CREBBP | c.4005A>G (p.Gly1335=) c.3891A>G (p.Gly1297=) c.2640A>G (p.Gly880=) n.469A>G c.311A>G n.87A>G n.2942A>G c.3960A>G (p.Gly1320=) c.3588A>G (p.Gly1196=) c.3951A>G (p.Gly1317=) c.3252A>G (p.Gly1084=) c.3999A>G (p.Gly1333=) | |
16 | g.3740527T>G | CA493280491 | CREBBP | c.4005A>C (p.Gly1335=) c.3891A>C (p.Gly1297=) c.2640A>C (p.Gly880=) n.469A>C c.311A>C n.87A>C n.2942A>C c.3960A>C (p.Gly1320=) c.3588A>C (p.Gly1196=) c.3951A>C (p.Gly1317=) c.3252A>C (p.Gly1084=) c.3999A>C (p.Gly1333=) | |
16 | g.3740528C>A | CA394565480 | CREBBP | c.4004G>T (p.Gly1335Val) c.3890G>T (p.Gly1297Val) c.2639G>T (p.Gly880Val) n.468G>T c.310G>T n.86G>T n.2941G>T c.3959G>T (p.Gly1320Val) c.3587G>T (p.Gly1196Val) c.3950G>T (p.Gly1317Val) c.3251G>T (p.Gly1084Val) c.3998G>T (p.Gly1333Val) | dbSNP |
16 | g.3740528C>G | CA394565481 | CREBBP | c.4004G>C (p.Gly1335Ala) c.3890G>C (p.Gly1297Ala) c.2639G>C (p.Gly880Ala) n.468G>C c.310G>C n.86G>C n.2941G>C c.3959G>C (p.Gly1320Ala) c.3587G>C (p.Gly1196Ala) c.3950G>C (p.Gly1317Ala) c.3251G>C (p.Gly1084Ala) c.3998G>C (p.Gly1333Ala) | dbSNP |
16 | g.3740528C>T | CA394565482 | CREBBP | c.4004G>A (p.Gly1335Glu) c.3890G>A (p.Gly1297Glu) c.2639G>A (p.Gly880Glu) n.468G>A c.310G>A n.86G>A n.2941G>A c.3959G>A (p.Gly1320Glu) c.3587G>A (p.Gly1196Glu) c.3950G>A (p.Gly1317Glu) c.3251G>A (p.Gly1084Glu) c.3998G>A (p.Gly1333Glu) | dbSNP gnomAD v4 |
16 | g.3740529C>A | CA394565483 | CREBBP | c.4003G>T (p.Gly1335Ter) c.3889G>T (p.Gly1297Ter) c.2638G>T (p.Gly880Ter) n.467G>T c.309G>T n.85G>T n.2940G>T c.3958G>T (p.Gly1320Ter) c.3586G>T (p.Gly1196Ter) c.3949G>T (p.Gly1317Ter) c.3250G>T (p.Gly1084Ter) c.3997G>T (p.Gly1333Ter) | dbSNP |
16 | g.3740529C>G | CA394565484 | CREBBP | c.4003G>C (p.Gly1335Arg) c.3889G>C (p.Gly1297Arg) c.2638G>C (p.Gly880Arg) n.467G>C c.309G>C n.85G>C n.2940G>C c.3958G>C (p.Gly1320Arg) c.3586G>C (p.Gly1196Arg) c.3949G>C (p.Gly1317Arg) c.3250G>C (p.Gly1084Arg) c.3997G>C (p.Gly1333Arg) | dbSNP |
16 | g.3740529C>T | CA394565485 | CREBBP | c.4003G>A (p.Gly1335Arg) c.3889G>A (p.Gly1297Arg) c.2638G>A (p.Gly880Arg) n.467G>A c.309G>A n.85G>A n.2940G>A c.3958G>A (p.Gly1320Arg) c.3586G>A (p.Gly1196Arg) c.3949G>A (p.Gly1317Arg) c.3250G>A (p.Gly1084Arg) c.3997G>A (p.Gly1333Arg) | dbSNP |
16 | g.3740530C>A | CA493280499 | CREBBP | c.4002G>T (p.Leu1334=) c.3888G>T (p.Leu1296=) c.2637G>T (p.Leu879=) n.466G>T c.308G>T n.84G>T n.2939G>T c.3957G>T (p.Leu1319=) c.3585G>T (p.Leu1195=) c.3948G>T (p.Leu1316=) c.3249G>T (p.Leu1083=) c.3996G>T (p.Leu1332=) | |
16 | g.3740530C>G | CA493280501 | CREBBP | c.4002G>C (p.Leu1334=) c.3888G>C (p.Leu1296=) c.2637G>C (p.Leu879=) n.466G>C c.308G>C n.84G>C n.2939G>C c.3957G>C (p.Leu1319=) c.3585G>C (p.Leu1195=) c.3948G>C (p.Leu1316=) c.3249G>C (p.Leu1083=) c.3996G>C (p.Leu1332=) | dbSNP |
16 | g.3740530C>T | CA493280503 | CREBBP | c.4002G>A (p.Leu1334=) c.3888G>A (p.Leu1296=) c.2637G>A (p.Leu879=) n.466G>A c.308G>A n.84G>A n.2939G>A c.3957G>A (p.Leu1319=) c.3585G>A (p.Leu1195=) c.3948G>A (p.Leu1316=) c.3249G>A (p.Leu1083=) c.3996G>A (p.Leu1332=) | dbSNP gnomAD v4 |
16 | g.3740531A>C | CA394565487 | CREBBP | c.4001T>G (p.Leu1334Arg) c.3887T>G (p.Leu1296Arg) c.2636T>G (p.Leu879Arg) n.465T>G c.307T>G n.83T>G n.2938T>G c.3956T>G (p.Leu1319Arg) c.3584T>G (p.Leu1195Arg) c.3947T>G (p.Leu1316Arg) c.3248T>G (p.Leu1083Arg) c.3995T>G (p.Leu1332Arg) | |
16 | g.3740531A>G | CA394565488 | CREBBP | c.4001T>C (p.Leu1334Pro) c.3887T>C (p.Leu1296Pro) c.2636T>C (p.Leu879Pro) n.465T>C c.307T>C n.83T>C n.2938T>C c.3956T>C (p.Leu1319Pro) c.3584T>C (p.Leu1195Pro) c.3947T>C (p.Leu1316Pro) c.3248T>C (p.Leu1083Pro) c.3995T>C (p.Leu1332Pro) | dbSNP |
16 | g.3740531A>T | CA394565486 | CREBBP | c.4001T>A (p.Leu1334Gln) c.3887T>A (p.Leu1296Gln) c.2636T>A (p.Leu879Gln) n.465T>A c.307T>A n.83T>A n.2938T>A c.3956T>A (p.Leu1319Gln) c.3584T>A (p.Leu1195Gln) c.3947T>A (p.Leu1316Gln) c.3248T>A (p.Leu1083Gln) c.3995T>A (p.Leu1332Gln) | dbSNP |
16 | g.3740532G>A | CA493280508 | CREBBP | c.4000C>T (p.Leu1334=) c.3886C>T (p.Leu1296=) c.2635C>T (p.Leu879=) n.464C>T c.306C>T n.82C>T n.2937C>T c.3955C>T (p.Leu1319=) c.3583C>T (p.Leu1195=) c.3946C>T (p.Leu1316=) c.3247C>T (p.Leu1083=) c.3994C>T (p.Leu1332=) | |
16 | g.3740532G>C | CA394565489 | CREBBP | c.4000C>G (p.Leu1334Val) c.3886C>G (p.Leu1296Val) c.2635C>G (p.Leu879Val) n.464C>G c.306C>G n.82C>G n.2937C>G c.3955C>G (p.Leu1319Val) c.3583C>G (p.Leu1195Val) c.3946C>G (p.Leu1316Val) c.3247C>G (p.Leu1083Val) c.3994C>G (p.Leu1332Val) | dbSNP |
16 | g.3740532G>T | CA394565490 | CREBBP | c.4000C>A (p.Leu1334Met) c.3886C>A (p.Leu1296Met) c.2635C>A (p.Leu879Met) n.464C>A c.306C>A n.82C>A n.2937C>A c.3955C>A (p.Leu1319Met) c.3583C>A (p.Leu1195Met) c.3946C>A (p.Leu1316Met) c.3247C>A (p.Leu1083Met) c.3994C>A (p.Leu1332Met) | |
16 | g.3740533T>A | CA394565491 | CREBBP | c.3999A>T (p.Arg1333Ser) c.3885A>T (p.Arg1295Ser) c.2634A>T (p.Arg878Ser) n.463A>T c.305A>T n.81A>T n.2936A>T c.3954A>T (p.Arg1318Ser) c.3582A>T (p.Arg1194Ser) c.3945A>T (p.Arg1315Ser) c.3246A>T (p.Arg1082Ser) c.3993A>T (p.Arg1331Ser) | dbSNP |
16 | g.3740533T>C | CA493280512 | CREBBP | c.3999A>G (p.Arg1333=) c.3885A>G (p.Arg1295=) c.2634A>G (p.Arg878=) n.463A>G c.305A>G n.81A>G n.2936A>G c.3954A>G (p.Arg1318=) c.3582A>G (p.Arg1194=) c.3945A>G (p.Arg1315=) c.3246A>G (p.Arg1082=) c.3993A>G (p.Arg1331=) | |
16 | g.3740533T>G | CA394565492 | CREBBP | c.3999A>C (p.Arg1333Ser) c.3885A>C (p.Arg1295Ser) c.2634A>C (p.Arg878Ser) n.463A>C c.305A>C n.81A>C n.2936A>C c.3954A>C (p.Arg1318Ser) c.3582A>C (p.Arg1194Ser) c.3945A>C (p.Arg1315Ser) c.3246A>C (p.Arg1082Ser) c.3993A>C (p.Arg1331Ser) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.3740533T= | CA2202940923 | CREBBP | c.3999A= (p.Arg1333=) c.3885A= (p.Arg1295=) c.2634A= (p.Arg878=) n.463A= c.305A= n.81A= n.2936A= c.3954A= (p.Arg1318=) c.3582A= (p.Arg1194=) c.3945A= (p.Arg1315=) c.3246A= (p.Arg1082=) c.3993A= (p.Arg1331=) | |
16 | g.3740533_3740534insAG | CA7869630 | CREBBP | c.3998_3999insCT (p.Arg1333SerfsTer11) c.3884_3885insCT (p.Arg1295SerfsTer11) c.2633_2634insCT (p.Arg878SerfsTer11) n.462_463insCT c.304_305insCT n.80_81insCT n.2935_2936insCT c.3953_3954insCT (p.Arg1318SerfsTer11) c.3581_3582insCT (p.Arg1194SerfsTer11) c.3944_3945insCT (p.Arg1315SerfsTer11) c.3245_3246insCT (p.Arg1082SerfsTer11) c.3992_3993insCT (p.Arg1331SerfsTer11) | dbSNP ExAC gnomAD v2 |
16 | g.3740534C>A | CA394565495 | CREBBP | c.3998G>T (p.Arg1333Ile) c.3884G>T (p.Arg1295Ile) c.2633G>T (p.Arg878Ile) n.462G>T c.304G>T n.80G>T n.2935G>T c.3953G>T (p.Arg1318Ile) c.3581G>T (p.Arg1194Ile) c.3944G>T (p.Arg1315Ile) c.3245G>T (p.Arg1082Ile) c.3992G>T (p.Arg1331Ile) | dbSNP |
16 | g.3740534C>G | CA394565493 | CREBBP | c.3998G>C (p.Arg1333Thr) c.3884G>C (p.Arg1295Thr) c.2633G>C (p.Arg878Thr) n.462G>C c.304G>C n.80G>C n.2935G>C c.3953G>C (p.Arg1318Thr) c.3581G>C (p.Arg1194Thr) c.3944G>C (p.Arg1315Thr) c.3245G>C (p.Arg1082Thr) c.3992G>C (p.Arg1331Thr) | dbSNP |
16 | g.3740534C>T | CA394565494 | CREBBP | c.3998G>A (p.Arg1333Lys) c.3884G>A (p.Arg1295Lys) c.2633G>A (p.Arg878Lys) n.462G>A c.304G>A n.80G>A n.2935G>A c.3953G>A (p.Arg1318Lys) c.3581G>A (p.Arg1194Lys) c.3944G>A (p.Arg1315Lys) c.3245G>A (p.Arg1082Lys) c.3992G>A (p.Arg1331Lys) | dbSNP |
16 | g.3740534_3740535insGGGTCCCACACAGACTCGCCACACAAAACACGCTCACTGCAGTCATCTCAACAG | CA7869631 | CREBBP | c.3997_3998insCTGTTGAGATGACTGCAGTGAGCGTGTTTTGTGTGGCGAGTCTGTGTGGGACCC (p.Thr1332_Arg1333insThrValGluMetThrAlaValSerValPheCysValAlaSerLeuCysGlyThr) c.3883_3884insCTGTTGAGATGACTGCAGTGAGCGTGTTTTGTGTGGCGAGTCTGTGTGGGACCC (p.Thr1294_Arg1295insThrValGluMetThrAlaValSerValPheCysValAlaSerLeuCysGlyThr) c.2632_2633insCTGTTGAGATGACTGCAGTGAGCGTGTTTTGTGTGGCGAGTCTGTGTGGGACCC (p.Thr877_Arg878insThrValGluMetThrAlaValSerValPheCysValAlaSerLeuCysGlyThr) n.461_462insCTGTTGAGATGACTGCAGTGAGCGTGTTTTGTGTGGCGAGTCTGTGTGGGACCC c.303_304insCTGTTGAGATGACTGCAGTGAGCGTGTTTTGTGTGGCGAGTCTGTGTGGGACCC n.79_80insCTGTTGAGATGACTGCAGTGAGCGTGTTTTGTGTGGCGAGTCTGTGTGGGACCC n.2934_2935insCTGTTGAGATGACTGCAGTGAGCGTGTTTTGTGTGGCGAGTCTGTGTGGGACCC c.3952_3953insCTGTTGAGATGACTGCAGTGAGCGTGTTTTGTGTGGCGAGTCTGTGTGGGACCC (p.Thr1317_Arg1318insThrValGluMetThrAlaValSerValPheCysValAlaSerLeuCysGlyThr) c.3580_3581insCTGTTGAGATGACTGCAGTGAGCGTGTTTTGTGTGGCGAGTCTGTGTGGGACCC (p.Thr1193_Arg1194insThrValGluMetThrAlaValSerValPheCysValAlaSerLeuCysGlyThr) c.3943_3944insCTGTTGAGATGACTGCAGTGAGCGTGTTTTGTGTGGCGAGTCTGTGTGGGACCC (p.Thr1314_Arg1315insThrValGluMetThrAlaValSerValPheCysValAlaSerLeuCysGlyThr) c.3244_3245insCTGTTGAGATGACTGCAGTGAGCGTGTTTTGTGTGGCGAGTCTGTGTGGGACCC (p.Thr1081_Arg1082insThrValGluMetThrAlaValSerValPheCysValAlaSerLeuCysGlyThr) c.3991_3992insCTGTTGAGATGACTGCAGTGAGCGTGTTTTGTGTGGCGAGTCTGTGTGGGACCC (p.Thr1330_Arg1331insThrValGluMetThrAlaValSerValPheCysValAlaSerLeuCysGlyThr) | ExAC |
16 | g.3740534_3740535insGGGTCCCACACAGACTCGCCACACAAAACACGCTCACTGCAGTCATCTCAACAGTTCA | CA620464205 | CREBBP | c.3997_3998insTGAACTGTTGAGATGACTGCAGTGAGCGTGTTTTGTGTGGCGAGTCTGTGTGGGACCC (p.Arg1333MetfsTer4) c.3883_3884insTGAACTGTTGAGATGACTGCAGTGAGCGTGTTTTGTGTGGCGAGTCTGTGTGGGACCC (p.Arg1295MetfsTer4) c.2632_2633insTGAACTGTTGAGATGACTGCAGTGAGCGTGTTTTGTGTGGCGAGTCTGTGTGGGACCC (p.Arg878MetfsTer4) n.461_462insTGAACTGTTGAGATGACTGCAGTGAGCGTGTTTTGTGTGGCGAGTCTGTGTGGGACCC c.303_304insTGAACTGTTGAGATGACTGCAGTGAGCGTGTTTTGTGTGGCGAGTCTGTGTGGGACCC n.79_80insTGAACTGTTGAGATGACTGCAGTGAGCGTGTTTTGTGTGGCGAGTCTGTGTGGGACCC n.2934_2935insTGAACTGTTGAGATGACTGCAGTGAGCGTGTTTTGTGTGGCGAGTCTGTGTGGGACCC c.3952_3953insTGAACTGTTGAGATGACTGCAGTGAGCGTGTTTTGTGTGGCGAGTCTGTGTGGGACCC (p.Arg1318MetfsTer4) c.3580_3581insTGAACTGTTGAGATGACTGCAGTGAGCGTGTTTTGTGTGGCGAGTCTGTGTGGGACCC (p.Arg1194MetfsTer4) c.3943_3944insTGAACTGTTGAGATGACTGCAGTGAGCGTGTTTTGTGTGGCGAGTCTGTGTGGGACCC (p.Arg1315MetfsTer4) c.3244_3245insTGAACTGTTGAGATGACTGCAGTGAGCGTGTTTTGTGTGGCGAGTCTGTGTGGGACCC (p.Arg1082MetfsTer4) c.3991_3992insTGAACTGTTGAGATGACTGCAGTGAGCGTGTTTTGTGTGGCGAGTCTGTGTGGGACCC (p.Arg1331MetfsTer4) | gnomAD v2 |
16 | g.3740535T>A | CA394565496 | CREBBP | c.3997A>T (p.Arg1333Ter) c.3883A>T (p.Arg1295Ter) c.2632A>T (p.Arg878Ter) n.461A>T c.303A>T n.79A>T n.2934A>T c.3952A>T (p.Arg1318Ter) c.3580A>T (p.Arg1194Ter) c.3943A>T (p.Arg1315Ter) c.3244A>T (p.Arg1082Ter) c.3991A>T (p.Arg1331Ter) | dbSNP |
16 | g.3740535T>C | CA394565497 | CREBBP | c.3997A>G (p.Arg1333Gly) c.3883A>G (p.Arg1295Gly) c.2632A>G (p.Arg878Gly) n.461A>G c.303A>G n.79A>G n.2934A>G c.3952A>G (p.Arg1318Gly) c.3580A>G (p.Arg1194Gly) c.3943A>G (p.Arg1315Gly) c.3244A>G (p.Arg1082Gly) c.3991A>G (p.Arg1331Gly) | |
16 | g.3740535T>G | CA493280520 | CREBBP | c.3997A>C (p.Arg1333=) c.3883A>C (p.Arg1295=) c.2632A>C (p.Arg878=) n.461A>C c.303A>C n.79A>C n.2934A>C c.3952A>C (p.Arg1318=) c.3580A>C (p.Arg1194=) c.3943A>C (p.Arg1315=) c.3244A>C (p.Arg1082=) c.3991A>C (p.Arg1331=) | |
16 | g.3740536T>A | CA493280522 | CREBBP | c.3996A>T (p.Thr1332=) c.3882A>T (p.Thr1294=) c.2631A>T (p.Thr877=) n.460A>T c.302A>T n.78A>T n.2933A>T c.3951A>T (p.Thr1317=) c.3579A>T (p.Thr1193=) c.3942A>T (p.Thr1314=) c.3243A>T (p.Thr1081=) c.3990A>T (p.Thr1330=) | dbSNP |
16 | g.3740536T>C | CA493280524 | CREBBP | c.3996A>G (p.Thr1332=) c.3882A>G (p.Thr1294=) c.2631A>G (p.Thr877=) n.460A>G c.302A>G n.78A>G n.2933A>G c.3951A>G (p.Thr1317=) c.3579A>G (p.Thr1193=) c.3942A>G (p.Thr1314=) c.3243A>G (p.Thr1081=) c.3990A>G (p.Thr1330=) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.3740536T>G | CA493280526 | CREBBP | c.3996A>C (p.Thr1332=) c.3882A>C (p.Thr1294=) c.2631A>C (p.Thr877=) n.460A>C c.302A>C n.78A>C n.2933A>C c.3951A>C (p.Thr1317=) c.3579A>C (p.Thr1193=) c.3942A>C (p.Thr1314=) c.3243A>C (p.Thr1081=) c.3990A>C (p.Thr1330=) | |
16 | g.3740536T= | CA2202940926 | CREBBP | c.3996A= (p.Thr1332=) c.3882A= (p.Thr1294=) c.2631A= (p.Thr877=) n.460A= c.302A= n.78A= n.2933A= c.3951A= (p.Thr1317=) c.3579A= (p.Thr1193=) c.3942A= (p.Thr1314=) c.3243A= (p.Thr1081=) c.3990A= (p.Thr1330=) | |
16 | g.3740537G>A | CA394565498 | CREBBP | c.3995C>T (p.Thr1332Ile) c.3881C>T (p.Thr1294Ile) c.2630C>T (p.Thr877Ile) n.459C>T c.301C>T n.77C>T n.2932C>T c.3950C>T (p.Thr1317Ile) c.3578C>T (p.Thr1193Ile) c.3941C>T (p.Thr1314Ile) c.3242C>T (p.Thr1081Ile) c.3989C>T (p.Thr1330Ile) | dbSNP |
16 | g.3740537G>C | CA394565499 | CREBBP | c.3995C>G (p.Thr1332Arg) c.3881C>G (p.Thr1294Arg) c.2630C>G (p.Thr877Arg) n.459C>G c.301C>G n.77C>G n.2932C>G c.3950C>G (p.Thr1317Arg) c.3578C>G (p.Thr1193Arg) c.3941C>G (p.Thr1314Arg) c.3242C>G (p.Thr1081Arg) c.3989C>G (p.Thr1330Arg) | dbSNP |
16 | g.3740537G>T | CA394565500 | CREBBP | c.3995C>A (p.Thr1332Lys) c.3881C>A (p.Thr1294Lys) c.2630C>A (p.Thr877Lys) n.459C>A c.301C>A n.77C>A n.2932C>A c.3950C>A (p.Thr1317Lys) c.3578C>A (p.Thr1193Lys) c.3941C>A (p.Thr1314Lys) c.3242C>A (p.Thr1081Lys) c.3989C>A (p.Thr1330Lys) | dbSNP |
16 | g.3740538T>A | CA394565503 | CREBBP | c.3994A>T (p.Thr1332Ser) c.3880A>T (p.Thr1294Ser) c.2629A>T (p.Thr877Ser) n.458A>T c.300A>T n.76A>T n.2931A>T c.3949A>T (p.Thr1317Ser) c.3577A>T (p.Thr1193Ser) c.3940A>T (p.Thr1314Ser) c.3241A>T (p.Thr1081Ser) c.3988A>T (p.Thr1330Ser) | |
16 | g.3740538T>C | CA394565502 | CREBBP | c.3994A>G (p.Thr1332Ala) c.3880A>G (p.Thr1294Ala) c.2629A>G (p.Thr877Ala) n.458A>G c.300A>G n.76A>G n.2931A>G c.3949A>G (p.Thr1317Ala) c.3577A>G (p.Thr1193Ala) c.3940A>G (p.Thr1314Ala) c.3241A>G (p.Thr1081Ala) c.3988A>G (p.Thr1330Ala) | |
16 | g.3740538T>G | CA394565501 | CREBBP | c.3994A>C (p.Thr1332Pro) c.3880A>C (p.Thr1294Pro) c.2629A>C (p.Thr877Pro) n.458A>C c.300A>C n.76A>C n.2931A>C c.3949A>C (p.Thr1317Pro) c.3577A>C (p.Thr1193Pro) c.3940A>C (p.Thr1314Pro) c.3241A>C (p.Thr1081Pro) c.3988A>C (p.Thr1330Pro) | |
16 | g.3740538_3740539delinsTG | CA2202940928 | CREBBP | c.3993_3994delinsCA (p.Thr1331=) c.3879_3880delinsCA (p.Thr1293=) c.2628_2629delinsCA (p.Thr876=) n.457_458delinsCA c.299_300delinsCA n.75_76delinsCA n.2930_2931delinsCA c.3948_3949delinsCA (p.Thr1316=) c.3576_3577delinsCA (p.Thr1192=) c.3939_3940delinsCA (p.Thr1313=) c.3240_3241delinsCA (p.Thr1080=) c.3987_3988delinsCA (p.Thr1329=) | |
16 | g.3740539G>A | CA493280533 | CREBBP | c.3993C>T (p.Thr1331=) c.3879C>T (p.Thr1293=) c.2628C>T (p.Thr876=) n.457C>T c.299C>T n.75C>T n.2930C>T c.3948C>T (p.Thr1316=) c.3576C>T (p.Thr1192=) c.3939C>T (p.Thr1313=) c.3240C>T (p.Thr1080=) c.3987C>T (p.Thr1329=) | dbSNP gnomAD v4 |
16 | g.3740539G>C | CA493280535 | CREBBP | c.3993C>G (p.Thr1331=) c.3879C>G (p.Thr1293=) c.2628C>G (p.Thr876=) n.457C>G c.299C>G n.75C>G n.2930C>G c.3948C>G (p.Thr1316=) c.3576C>G (p.Thr1192=) c.3939C>G (p.Thr1313=) c.3240C>G (p.Thr1080=) c.3987C>G (p.Thr1329=) | dbSNP gnomAD v4 |
16 | g.3740539G>T | CA493280537 | CREBBP | c.3993C>A (p.Thr1331=) c.3879C>A (p.Thr1293=) c.2628C>A (p.Thr876=) n.457C>A c.299C>A n.75C>A n.2930C>A c.3948C>A (p.Thr1316=) c.3576C>A (p.Thr1192=) c.3939C>A (p.Thr1313=) c.3240C>A (p.Thr1080=) c.3987C>A (p.Thr1329=) | dbSNP |
16 | g.3740540del | CA275120 | CREBBP | c.3993del (p.Thr1332GlnfsTer11) c.3879del (p.Thr1294GlnfsTer11) c.2628del (p.Thr877GlnfsTer11) n.457del c.299del n.75del n.2930del c.3948del (p.Thr1317GlnfsTer11) c.3576del (p.Thr1193GlnfsTer11) c.3939del (p.Thr1314GlnfsTer11) c.3240del (p.Thr1081GlnfsTer11) c.3987del (p.Thr1330GlnfsTer11) | ClinVar dbSNP |
16 | g.3740540G>A | CA394565505 | CREBBP | c.3992C>T (p.Thr1331Ile) c.3878C>T (p.Thr1293Ile) c.2627C>T (p.Thr876Ile) n.456C>T c.298C>T n.74C>T n.2929C>T c.3947C>T (p.Thr1316Ile) c.3575C>T (p.Thr1192Ile) c.3938C>T (p.Thr1313Ile) c.3239C>T (p.Thr1080Ile) c.3986C>T (p.Thr1329Ile) | dbSNP |
16 | g.3740540G>C | CA394565504 | CREBBP | c.3992C>G (p.Thr1331Ser) c.3878C>G (p.Thr1293Ser) c.2627C>G (p.Thr876Ser) n.456C>G c.298C>G n.74C>G n.2929C>G c.3947C>G (p.Thr1316Ser) c.3575C>G (p.Thr1192Ser) c.3938C>G (p.Thr1313Ser) c.3239C>G (p.Thr1080Ser) c.3986C>G (p.Thr1329Ser) | dbSNP |
16 | g.3740540G>T | CA394565506 | CREBBP | c.3992C>A (p.Thr1331Asn) c.3878C>A (p.Thr1293Asn) c.2627C>A (p.Thr876Asn) n.456C>A c.298C>A n.74C>A n.2929C>A c.3947C>A (p.Thr1316Asn) c.3575C>A (p.Thr1192Asn) c.3938C>A (p.Thr1313Asn) c.3239C>A (p.Thr1080Asn) c.3986C>A (p.Thr1329Asn) | dbSNP |
16 | g.3740541T>A | CA394565507 | CREBBP | c.3991A>T (p.Thr1331Ser) c.3877A>T (p.Thr1293Ser) c.2626A>T (p.Thr876Ser) n.455A>T c.297A>T n.73A>T n.2928A>T c.3946A>T (p.Thr1316Ser) c.3574A>T (p.Thr1192Ser) c.3937A>T (p.Thr1313Ser) c.3238A>T (p.Thr1080Ser) c.3985A>T (p.Thr1329Ser) | dbSNP |
16 | g.3740541T>C | CA7869632 | CREBBP | c.3991A>G (p.Thr1331Ala) c.3877A>G (p.Thr1293Ala) c.2626A>G (p.Thr876Ala) n.455A>G c.297A>G n.73A>G n.2928A>G c.3946A>G (p.Thr1316Ala) c.3574A>G (p.Thr1192Ala) c.3937A>G (p.Thr1313Ala) c.3238A>G (p.Thr1080Ala) c.3985A>G (p.Thr1329Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.3740541T>G | CA394565508 | CREBBP | c.3991A>C (p.Thr1331Pro) c.3877A>C (p.Thr1293Pro) c.2626A>C (p.Thr876Pro) n.455A>C c.297A>C n.73A>C n.2928A>C c.3946A>C (p.Thr1316Pro) c.3574A>C (p.Thr1192Pro) c.3937A>C (p.Thr1313Pro) c.3238A>C (p.Thr1080Pro) c.3985A>C (p.Thr1329Pro) | dbSNP |
16 | g.3740541T= | CA2202940939 | CREBBP | c.3991A= (p.Thr1331=) c.3877A= (p.Thr1293=) c.2626A= (p.Thr876=) n.455A= c.297A= n.73A= n.2928A= c.3946A= (p.Thr1316=) c.3574A= (p.Thr1192=) c.3937A= (p.Thr1313=) c.3238A= (p.Thr1080=) c.3985A= (p.Thr1329=) | |
16 | g.3740542C>A | CA394565509 | CREBBP | c.3990G>T (p.Gln1330His) c.3876G>T (p.Gln1292His) c.2625G>T (p.Gln875His) n.454G>T c.296G>T n.72G>T n.2927G>T c.3945G>T (p.Gln1315His) c.3573G>T (p.Gln1191His) c.3936G>T (p.Gln1312His) c.3237G>T (p.Gln1079His) c.3984G>T (p.Gln1328His) | dbSNP |
16 | g.3740542C>G | CA394565510 | CREBBP | c.3990G>C (p.Gln1330His) c.3876G>C (p.Gln1292His) c.2625G>C (p.Gln875His) n.454G>C c.296G>C n.72G>C n.2927G>C c.3945G>C (p.Gln1315His) c.3573G>C (p.Gln1191His) c.3936G>C (p.Gln1312His) c.3237G>C (p.Gln1079His) c.3984G>C (p.Gln1328His) | dbSNP |
16 | g.3740542C>T | CA493280546 | CREBBP | c.3990G>A (p.Gln1330=) c.3876G>A (p.Gln1292=) c.2625G>A (p.Gln875=) n.454G>A c.296G>A n.72G>A n.2927G>A c.3945G>A (p.Gln1315=) c.3573G>A (p.Gln1191=) c.3936G>A (p.Gln1312=) c.3237G>A (p.Gln1079=) c.3984G>A (p.Gln1328=) | dbSNP |
16 | g.3740543T>A | CA394565511 | CREBBP | c.3989A>T (p.Gln1330Leu) c.3875A>T (p.Gln1292Leu) c.2624A>T (p.Gln875Leu) n.453A>T c.295A>T n.71A>T n.2926A>T c.3944A>T (p.Gln1315Leu) c.3572A>T (p.Gln1191Leu) c.3935A>T (p.Gln1312Leu) c.3236A>T (p.Gln1079Leu) c.3983A>T (p.Gln1328Leu) | dbSNP |
16 | g.3740543T>C | CA271399 | CREBBP | c.3989A>G (p.Gln1330Arg) c.3875A>G (p.Gln1292Arg) c.2624A>G (p.Gln875Arg) n.453A>G c.295A>G n.71A>G n.2926A>G c.3944A>G (p.Gln1315Arg) c.3572A>G (p.Gln1191Arg) c.3935A>G (p.Gln1312Arg) c.3236A>G (p.Gln1079Arg) c.3983A>G (p.Gln1328Arg) | ClinVar dbSNP |
16 | g.3740543T>G | CA394565512 | CREBBP | c.3989A>C (p.Gln1330Pro) c.3875A>C (p.Gln1292Pro) c.2624A>C (p.Gln875Pro) n.453A>C c.295A>C n.71A>C n.2926A>C c.3944A>C (p.Gln1315Pro) c.3572A>C (p.Gln1191Pro) c.3935A>C (p.Gln1312Pro) c.3236A>C (p.Gln1079Pro) c.3983A>C (p.Gln1328Pro) | |
16 | g.3740543T= | CA2202940943 | CREBBP | c.3989A= (p.Gln1330=) c.3875A= (p.Gln1292=) c.2624A= (p.Gln875=) n.453A= c.295A= n.71A= n.2926A= c.3944A= (p.Gln1315=) c.3572A= (p.Gln1191=) c.3935A= (p.Gln1312=) c.3236A= (p.Gln1079=) c.3983A= (p.Gln1328=) | |
16 | g.3740544G>A | CA394565513 | CREBBP | c.3988C>T (p.Gln1330Ter) c.3874C>T (p.Gln1292Ter) c.2623C>T (p.Gln875Ter) n.452C>T c.294C>T n.70C>T n.2925C>T c.3943C>T (p.Gln1315Ter) c.3571C>T (p.Gln1191Ter) c.3934C>T (p.Gln1312Ter) c.3235C>T (p.Gln1079Ter) c.3982C>T (p.Gln1328Ter) | dbSNP COSMIC |
16 | g.3740544G>C | CA394565514 | CREBBP | c.3988C>G (p.Gln1330Glu) c.3874C>G (p.Gln1292Glu) c.2623C>G (p.Gln875Glu) n.452C>G c.294C>G n.70C>G n.2925C>G c.3943C>G (p.Gln1315Glu) c.3571C>G (p.Gln1191Glu) c.3934C>G (p.Gln1312Glu) c.3235C>G (p.Gln1079Glu) c.3982C>G (p.Gln1328Glu) | dbSNP COSMIC |
16 | g.3740544G>T | CA394565515 | CREBBP | c.3988C>A (p.Gln1330Lys) c.3874C>A (p.Gln1292Lys) c.2623C>A (p.Gln875Lys) n.452C>A c.294C>A n.70C>A n.2925C>A c.3943C>A (p.Gln1315Lys) c.3571C>A (p.Gln1191Lys) c.3934C>A (p.Gln1312Lys) c.3235C>A (p.Gln1079Lys) c.3982C>A (p.Gln1328Lys) | |
16 | g.3740545C>A | CA493280557 | CREBBP | c.3987G>T (p.Leu1329=) c.3873G>T (p.Leu1291=) c.2622G>T (p.Leu874=) n.451G>T c.293G>T n.69G>T n.2924G>T c.3942G>T (p.Leu1314=) c.3570G>T (p.Leu1190=) c.3933G>T (p.Leu1311=) c.3234G>T (p.Leu1078=) c.3981G>T (p.Leu1327=) | dbSNP |
16 | g.3740545C= | CA2202940947 | CREBBP | c.3987G= (p.Leu1329=) c.3873G= (p.Leu1291=) c.2622G= (p.Leu874=) n.451G= c.293G= n.69G= n.2924G= c.3942G= (p.Leu1314=) c.3570G= (p.Leu1190=) c.3933G= (p.Leu1311=) c.3234G= (p.Leu1078=) c.3981G= (p.Leu1327=) | |
16 | g.3740545C>G | CA493280559 | CREBBP | c.3987G>C (p.Leu1329=) c.3873G>C (p.Leu1291=) c.2622G>C (p.Leu874=) n.451G>C c.293G>C n.69G>C n.2924G>C c.3942G>C (p.Leu1314=) c.3570G>C (p.Leu1190=) c.3933G>C (p.Leu1311=) c.3234G>C (p.Leu1078=) c.3981G>C (p.Leu1327=) | dbSNP |
16 | g.3740545C>T | CA7869633 | CREBBP | c.3987G>A (p.Leu1329=) c.3873G>A (p.Leu1291=) c.2622G>A (p.Leu874=) n.451G>A c.293G>A n.69G>A n.2924G>A c.3942G>A (p.Leu1314=) c.3570G>A (p.Leu1190=) c.3933G>A (p.Leu1311=) c.3234G>A (p.Leu1078=) c.3981G>A (p.Leu1327=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.3740546A>C | CA394565516 | CREBBP | c.3986T>G (p.Leu1329Arg) c.3872T>G (p.Leu1291Arg) c.2621T>G (p.Leu874Arg) n.450T>G c.292T>G n.68T>G n.2923T>G c.3941T>G (p.Leu1314Arg) c.3569T>G (p.Leu1190Arg) c.3932T>G (p.Leu1311Arg) c.3233T>G (p.Leu1078Arg) c.3980T>G (p.Leu1327Arg) | dbSNP |
16 | g.3740546A>G | CA394565517 | CREBBP | c.3986T>C (p.Leu1329Pro) c.3872T>C (p.Leu1291Pro) c.2621T>C (p.Leu874Pro) n.450T>C c.292T>C n.68T>C n.2923T>C c.3941T>C (p.Leu1314Pro) c.3569T>C (p.Leu1190Pro) c.3932T>C (p.Leu1311Pro) c.3233T>C (p.Leu1078Pro) c.3980T>C (p.Leu1327Pro) | dbSNP COSMIC |
16 | g.3740546A>T | CA394565518 | CREBBP | c.3986T>A (p.Leu1329Gln) c.3872T>A (p.Leu1291Gln) c.2621T>A (p.Leu874Gln) n.450T>A c.292T>A n.68T>A n.2923T>A c.3941T>A (p.Leu1314Gln) c.3569T>A (p.Leu1190Gln) c.3932T>A (p.Leu1311Gln) c.3233T>A (p.Leu1078Gln) c.3980T>A (p.Leu1327Gln) | dbSNP |
16 | g.3740547G>A | CA7869634 | CREBBP | c.3985C>T (p.Leu1329=) c.3871C>T (p.Leu1291=) c.2620C>T (p.Leu874=) n.449C>T c.291C>T n.67C>T n.2922C>T c.3940C>T (p.Leu1314=) c.3568C>T (p.Leu1190=) c.3931C>T (p.Leu1311=) c.3232C>T (p.Leu1078=) c.3979C>T (p.Leu1327=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3740547G>C | CA394565519 | CREBBP | c.3985C>G (p.Leu1329Val) c.3871C>G (p.Leu1291Val) c.2620C>G (p.Leu874Val) n.449C>G c.291C>G n.67C>G n.2922C>G c.3940C>G (p.Leu1314Val) c.3568C>G (p.Leu1190Val) c.3931C>G (p.Leu1311Val) c.3232C>G (p.Leu1078Val) c.3979C>G (p.Leu1327Val) | |
16 | g.3740547G= | CA2202940949 | CREBBP | c.3985C= (p.Leu1329=) c.3871C= (p.Leu1291=) c.2620C= (p.Leu874=) n.449C= c.291C= n.67C= n.2922C= c.3940C= (p.Leu1314=) c.3568C= (p.Leu1190=) c.3931C= (p.Leu1311=) c.3232C= (p.Leu1078=) c.3979C= (p.Leu1327=) | |
16 | g.3740547G>T | CA394565520 | CREBBP | c.3985C>A (p.Leu1329Met) c.3871C>A (p.Leu1291Met) c.2620C>A (p.Leu874Met) n.449C>A c.291C>A n.67C>A n.2922C>A c.3940C>A (p.Leu1314Met) c.3568C>A (p.Leu1190Met) c.3931C>A (p.Leu1311Met) c.3232C>A (p.Leu1078Met) c.3979C>A (p.Leu1327Met) | |
16 | g.3740548C>A | CA394565521 | CREBBP | c.3984G>T (p.Arg1328Ser) c.3870G>T (p.Arg1290Ser) c.2619G>T (p.Arg873Ser) n.448G>T c.290G>T n.66G>T n.2921G>T c.3939G>T (p.Arg1313Ser) c.3567G>T (p.Arg1189Ser) c.3930G>T (p.Arg1310Ser) c.3231G>T (p.Arg1077Ser) c.3978G>T (p.Arg1326Ser) | dbSNP |
16 | g.3740548C>G | CA394565522 | CREBBP | c.3984G>C (p.Arg1328Ser) c.3870G>C (p.Arg1290Ser) c.2619G>C (p.Arg873Ser) n.448G>C c.290G>C n.66G>C n.2921G>C c.3939G>C (p.Arg1313Ser) c.3567G>C (p.Arg1189Ser) c.3930G>C (p.Arg1310Ser) c.3231G>C (p.Arg1077Ser) c.3978G>C (p.Arg1326Ser) | dbSNP |
16 | g.3740548C>T | CA493280571 | CREBBP | c.3984G>A (p.Arg1328=) c.3870G>A (p.Arg1290=) c.2619G>A (p.Arg873=) n.448G>A c.290G>A n.66G>A n.2921G>A c.3939G>A (p.Arg1313=) c.3567G>A (p.Arg1189=) c.3930G>A (p.Arg1310=) c.3231G>A (p.Arg1077=) c.3978G>A (p.Arg1326=) | dbSNP |
16 | g.3740549C>A | CA394565523 | CREBBP | c.3983G>T (p.Arg1328Met) c.3869G>T (p.Arg1290Met) c.2618G>T (p.Arg873Met) n.447G>T c.289G>T n.65G>T n.2920G>T c.3938G>T (p.Arg1313Met) c.3566G>T (p.Arg1189Met) c.3929G>T (p.Arg1310Met) c.3230G>T (p.Arg1077Met) c.3977G>T (p.Arg1326Met) | dbSNP |
16 | g.3740549C>G | CA394565524 | CREBBP | c.3983G>C (p.Arg1328Thr) c.3869G>C (p.Arg1290Thr) c.2618G>C (p.Arg873Thr) n.447G>C c.289G>C n.65G>C n.2920G>C c.3938G>C (p.Arg1313Thr) c.3566G>C (p.Arg1189Thr) c.3929G>C (p.Arg1310Thr) c.3230G>C (p.Arg1077Thr) c.3977G>C (p.Arg1326Thr) | dbSNP |
16 | g.3740549C>T | CA394565525 | CREBBP | c.3983G>A (p.Arg1328Lys) c.3869G>A (p.Arg1290Lys) c.2618G>A (p.Arg873Lys) n.447G>A c.289G>A n.65G>A n.2920G>A c.3938G>A (p.Arg1313Lys) c.3566G>A (p.Arg1189Lys) c.3929G>A (p.Arg1310Lys) c.3230G>A (p.Arg1077Lys) c.3977G>A (p.Arg1326Lys) | dbSNP |
16 | g.3740550C>A | CA394565526 | CREBBP | c.3983-1G>T (n.3983-1G>T) c.3869-1G>T (n.3869-1G>T) c.2618-1G>T (n.2618-1G>T) n.447-1G>T c.289-1G>T n.65-1G>T n.2919G>T c.3938-1G>T (n.3938-1G>T) c.3566-1G>T (n.3566-1G>T) c.3929-1G>T (n.3929-1G>T) c.3230-1G>T (n.3230-1G>T) c.3977-1G>T (n.3977-1G>T) | dbSNP |
16 | g.3740550C>G | CA394565527 | CREBBP | c.3983-1G>C (n.3983-1G>C) c.3869-1G>C (n.3869-1G>C) c.2618-1G>C (n.2618-1G>C) n.447-1G>C c.289-1G>C n.65-1G>C n.2919G>C c.3938-1G>C (n.3938-1G>C) c.3566-1G>C (n.3566-1G>C) c.3929-1G>C (n.3929-1G>C) c.3230-1G>C (n.3230-1G>C) c.3977-1G>C (n.3977-1G>C) | ClinVar dbSNP |
16 | g.3740550C>T | CA394565528 | CREBBP | c.3983-1G>A (n.3983-1G>A) c.3869-1G>A (n.3869-1G>A) c.2618-1G>A (n.2618-1G>A) n.447-1G>A c.289-1G>A n.65-1G>A n.2919G>A c.3938-1G>A (n.3938-1G>A) c.3566-1G>A (n.3566-1G>A) c.3929-1G>A (n.3929-1G>A) c.3230-1G>A (n.3230-1G>A) c.3977-1G>A (n.3977-1G>A) | dbSNP |