| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.3740440G>A | CA493280333 | CREBBP | c.4092C>T (p.Ser1364=) c.3978C>T (p.Ser1326=) c.2727C>T (p.Ser909=) c.398C>T n.174C>T n.3029C>T c.4047C>T (p.Ser1349=) c.3675C>T (p.Ser1225=) c.4038C>T (p.Ser1346=) c.3339C>T (p.Ser1113=) c.4086C>T (p.Ser1362=) | dbSNP |
| 16 | g.3740440G>C | CA394565286 | CREBBP | c.4092C>G (p.Ser1364Arg) c.3978C>G (p.Ser1326Arg) c.2727C>G (p.Ser909Arg) c.398C>G n.174C>G n.3029C>G c.4047C>G (p.Ser1349Arg) c.3675C>G (p.Ser1225Arg) c.4038C>G (p.Ser1346Arg) c.3339C>G (p.Ser1113Arg) c.4086C>G (p.Ser1362Arg) | dbSNP gnomAD v4 |
| 16 | g.3740440G>T | CA394565287 | CREBBP | c.4092C>A (p.Ser1364Arg) c.3978C>A (p.Ser1326Arg) c.2727C>A (p.Ser909Arg) c.398C>A n.174C>A n.3029C>A c.4047C>A (p.Ser1349Arg) c.3675C>A (p.Ser1225Arg) c.4038C>A (p.Ser1346Arg) c.3339C>A (p.Ser1113Arg) c.4086C>A (p.Ser1362Arg) | |
| 16 | g.3740441C>A | CA394565288 | CREBBP | c.4091G>T (p.Ser1364Ile) c.3977G>T (p.Ser1326Ile) c.2726G>T (p.Ser909Ile) c.397G>T n.173G>T n.3028G>T c.4046G>T (p.Ser1349Ile) c.3674G>T (p.Ser1225Ile) c.4037G>T (p.Ser1346Ile) c.3338G>T (p.Ser1113Ile) c.4085G>T (p.Ser1362Ile) | dbSNP |
| 16 | g.3740441C>G | CA394565289 | CREBBP | c.4091G>C (p.Ser1364Thr) c.3977G>C (p.Ser1326Thr) c.2726G>C (p.Ser909Thr) c.397G>C n.173G>C n.3028G>C c.4046G>C (p.Ser1349Thr) c.3674G>C (p.Ser1225Thr) c.4037G>C (p.Ser1346Thr) c.3338G>C (p.Ser1113Thr) c.4085G>C (p.Ser1362Thr) | dbSNP |
| 16 | g.3740441C>T | CA394565290 | CREBBP | c.4091G>A (p.Ser1364Asn) c.3977G>A (p.Ser1326Asn) c.2726G>A (p.Ser909Asn) c.397G>A n.173G>A n.3028G>A c.4046G>A (p.Ser1349Asn) c.3674G>A (p.Ser1225Asn) c.4037G>A (p.Ser1346Asn) c.3338G>A (p.Ser1113Asn) c.4085G>A (p.Ser1362Asn) | dbSNP |
| 16 | g.3740442T>A | CA394565291 | CREBBP | c.4090A>T (p.Ser1364Cys) c.3976A>T (p.Ser1326Cys) c.2725A>T (p.Ser909Cys) c.396A>T n.172A>T n.3027A>T c.4045A>T (p.Ser1349Cys) c.3673A>T (p.Ser1225Cys) c.4036A>T (p.Ser1346Cys) c.3337A>T (p.Ser1113Cys) c.4084A>T (p.Ser1362Cys) | |
| 16 | g.3740442T>C | CA394565292 | CREBBP | c.4090A>G (p.Ser1364Gly) c.3976A>G (p.Ser1326Gly) c.2725A>G (p.Ser909Gly) c.396A>G n.172A>G n.3027A>G c.4045A>G (p.Ser1349Gly) c.3673A>G (p.Ser1225Gly) c.4036A>G (p.Ser1346Gly) c.3337A>G (p.Ser1113Gly) c.4084A>G (p.Ser1362Gly) | ClinVar gnomAD v4 |
| 16 | g.3740442T>G | CA394565293 | CREBBP | c.4090A>C (p.Ser1364Arg) c.3976A>C (p.Ser1326Arg) c.2725A>C (p.Ser909Arg) c.396A>C n.172A>C n.3027A>C c.4045A>C (p.Ser1349Arg) c.3673A>C (p.Ser1225Arg) c.4036A>C (p.Ser1346Arg) c.3337A>C (p.Ser1113Arg) c.4084A>C (p.Ser1362Arg) | gnomAD v4 |
| 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.3740443G>A | CA493280337 | CREBBP | c.4089C>T (p.Ala1363=) c.3975C>T (p.Ala1325=) c.2724C>T (p.Ala908=) n.553C>T c.395C>T n.171C>T n.3026C>T c.4044C>T (p.Ala1348=) c.3672C>T (p.Ala1224=) c.4035C>T (p.Ala1345=) c.3336C>T (p.Ala1112=) c.4083C>T (p.Ala1361=) | dbSNP |
| 16 | g.3740443G>C | CA493280335 | CREBBP | c.4089C>G (p.Ala1363=) c.3975C>G (p.Ala1325=) c.2724C>G (p.Ala908=) n.553C>G c.395C>G n.171C>G n.3026C>G c.4044C>G (p.Ala1348=) c.3672C>G (p.Ala1224=) c.4035C>G (p.Ala1345=) c.3336C>G (p.Ala1112=) c.4083C>G (p.Ala1361=) | dbSNP |
| 16 | g.3740443G= | CA2202940826 | CREBBP | c.4089C= (p.Ala1363=) c.3975C= (p.Ala1325=) c.2724C= (p.Ala908=) n.553C= c.395C= n.171C= n.3026C= c.4044C= (p.Ala1348=) c.3672C= (p.Ala1224=) c.4035C= (p.Ala1345=) c.3336C= (p.Ala1112=) c.4083C= (p.Ala1361=) | |
| 16 | g.3740443G>T | CA493280336 | CREBBP | c.4089C>A (p.Ala1363=) c.3975C>A (p.Ala1325=) c.2724C>A (p.Ala908=) n.553C>A c.395C>A n.171C>A n.3026C>A c.4044C>A (p.Ala1348=) c.3672C>A (p.Ala1224=) c.4035C>A (p.Ala1345=) c.3336C>A (p.Ala1112=) c.4083C>A (p.Ala1361=) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.3740444G>A | CA394565296 | CREBBP | c.4088C>T (p.Ala1363Val) c.3974C>T (p.Ala1325Val) c.2723C>T (p.Ala908Val) n.552C>T c.394C>T n.170C>T n.3025C>T c.4043C>T (p.Ala1348Val) c.3671C>T (p.Ala1224Val) c.4034C>T (p.Ala1345Val) c.3335C>T (p.Ala1112Val) c.4082C>T (p.Ala1361Val) | |
| 16 | g.3740444G>C | CA394565295 | CREBBP | c.4088C>G (p.Ala1363Gly) c.3974C>G (p.Ala1325Gly) c.2723C>G (p.Ala908Gly) n.552C>G c.394C>G n.170C>G n.3025C>G c.4043C>G (p.Ala1348Gly) c.3671C>G (p.Ala1224Gly) c.4034C>G (p.Ala1345Gly) c.3335C>G (p.Ala1112Gly) c.4082C>G (p.Ala1361Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.3740444G= | CA2202940828 | CREBBP | c.4088C= (p.Ala1363=) c.3974C= (p.Ala1325=) c.2723C= (p.Ala908=) n.552C= c.394C= n.170C= n.3025C= c.4043C= (p.Ala1348=) c.3671C= (p.Ala1224=) c.4034C= (p.Ala1345=) c.3335C= (p.Ala1112=) c.4082C= (p.Ala1361=) | |
| 16 | g.3740444G>T | CA394565294 | CREBBP | c.4088C>A (p.Ala1363Asp) c.3974C>A (p.Ala1325Asp) c.2723C>A (p.Ala908Asp) n.552C>A c.394C>A n.170C>A n.3025C>A c.4043C>A (p.Ala1348Asp) c.3671C>A (p.Ala1224Asp) c.4034C>A (p.Ala1345Asp) c.3335C>A (p.Ala1112Asp) c.4082C>A (p.Ala1361Asp) | |
| 16 | g.3740445C>A | CA394565297 | CREBBP | c.4087G>T (p.Ala1363Ser) c.3973G>T (p.Ala1325Ser) c.2722G>T (p.Ala908Ser) n.551G>T c.393G>T n.169G>T n.3024G>T c.4042G>T (p.Ala1348Ser) c.3670G>T (p.Ala1224Ser) c.4033G>T (p.Ala1345Ser) c.3334G>T (p.Ala1112Ser) c.4081G>T (p.Ala1361Ser) | gnomAD v4 |
| 16 | g.3740445C>G | CA394565298 | CREBBP | c.4087G>C (p.Ala1363Pro) c.3973G>C (p.Ala1325Pro) c.2722G>C (p.Ala908Pro) n.551G>C c.393G>C n.169G>C n.3024G>C c.4042G>C (p.Ala1348Pro) c.3670G>C (p.Ala1224Pro) c.4033G>C (p.Ala1345Pro) c.3334G>C (p.Ala1112Pro) c.4081G>C (p.Ala1361Pro) | dbSNP |
| 16 | g.3740445C>T | CA394565299 | CREBBP | c.4087G>A (p.Ala1363Thr) c.3973G>A (p.Ala1325Thr) c.2722G>A (p.Ala908Thr) n.551G>A c.393G>A n.169G>A n.3024G>A c.4042G>A (p.Ala1348Thr) c.3670G>A (p.Ala1224Thr) c.4033G>A (p.Ala1345Thr) c.3334G>A (p.Ala1112Thr) c.4081G>A (p.Ala1361Thr) | dbSNP gnomAD v4 |
| 16 | g.3740446C>A | CA493280341 | CREBBP | c.4086G>T (p.Val1362=) c.3972G>T (p.Val1324=) c.2721G>T (p.Val907=) n.550G>T c.392G>T n.168G>T n.3023G>T c.4041G>T (p.Val1347=) c.3669G>T (p.Val1223=) c.4032G>T (p.Val1344=) c.3333G>T (p.Val1111=) c.4080G>T (p.Val1360=) | dbSNP |
| 16 | g.3740446C>G | CA493280342 | CREBBP | c.4086G>C (p.Val1362=) c.3972G>C (p.Val1324=) c.2721G>C (p.Val907=) n.550G>C c.392G>C n.168G>C n.3023G>C c.4041G>C (p.Val1347=) c.3669G>C (p.Val1223=) c.4032G>C (p.Val1344=) c.3333G>C (p.Val1111=) c.4080G>C (p.Val1360=) | dbSNP |
| 16 | g.3740446C>T | CA493280344 | CREBBP | c.4086G>A (p.Val1362=) c.3972G>A (p.Val1324=) c.2721G>A (p.Val907=) n.550G>A c.392G>A n.168G>A n.3023G>A c.4041G>A (p.Val1347=) c.3669G>A (p.Val1223=) c.4032G>A (p.Val1344=) c.3333G>A (p.Val1111=) c.4080G>A (p.Val1360=) | dbSNP gnomAD v4 |
| 16 | g.3740447A>C | CA394565300 | CREBBP | c.4085T>G (p.Val1362Gly) c.3971T>G (p.Val1324Gly) c.2720T>G (p.Val907Gly) n.549T>G c.391T>G n.167T>G n.3022T>G c.4040T>G (p.Val1347Gly) c.3668T>G (p.Val1223Gly) c.4031T>G (p.Val1344Gly) c.3332T>G (p.Val1111Gly) c.4079T>G (p.Val1360Gly) | |
| 16 | g.3740447A>G | CA394565301 | CREBBP | c.4085T>C (p.Val1362Ala) c.3971T>C (p.Val1324Ala) c.2720T>C (p.Val907Ala) n.549T>C c.391T>C n.167T>C n.3022T>C c.4040T>C (p.Val1347Ala) c.3668T>C (p.Val1223Ala) c.4031T>C (p.Val1344Ala) c.3332T>C (p.Val1111Ala) c.4079T>C (p.Val1360Ala) | |
| 16 | g.3740447A>T | CA394565302 | CREBBP | c.4085T>A (p.Val1362Glu) c.3971T>A (p.Val1324Glu) c.2720T>A (p.Val907Glu) n.549T>A c.391T>A n.167T>A n.3022T>A c.4040T>A (p.Val1347Glu) c.3668T>A (p.Val1223Glu) c.4031T>A (p.Val1344Glu) c.3332T>A (p.Val1111Glu) c.4079T>A (p.Val1360Glu) | dbSNP |
| 16 | g.3740448C>A | CA394565303 | CREBBP | c.4084G>T (p.Val1362Leu) c.3970G>T (p.Val1324Leu) c.2719G>T (p.Val907Leu) n.548G>T c.390G>T n.166G>T n.3021G>T c.4039G>T (p.Val1347Leu) c.3667G>T (p.Val1223Leu) c.4030G>T (p.Val1344Leu) c.3331G>T (p.Val1111Leu) c.4078G>T (p.Val1360Leu) | gnomAD v4 |
| 16 | g.3740448C= | CA2202940830 | CREBBP | c.4084G= (p.Val1362=) c.3970G= (p.Val1324=) c.2719G= (p.Val907=) n.548G= c.390G= n.166G= n.3021G= c.4039G= (p.Val1347=) c.3667G= (p.Val1223=) c.4030G= (p.Val1344=) c.3331G= (p.Val1111=) c.4078G= (p.Val1360=) | |
| 16 | g.3740448C>G | CA394565304 | CREBBP | c.4084G>C (p.Val1362Leu) c.3970G>C (p.Val1324Leu) c.2719G>C (p.Val907Leu) n.548G>C c.390G>C n.166G>C n.3021G>C c.4039G>C (p.Val1347Leu) c.3667G>C (p.Val1223Leu) c.4030G>C (p.Val1344Leu) c.3331G>C (p.Val1111Leu) c.4078G>C (p.Val1360Leu) | dbSNP |
| 16 | g.3740448C>T | CA394565305 | CREBBP | c.4084G>A (p.Val1362Met) c.3970G>A (p.Val1324Met) c.2719G>A (p.Val907Met) n.548G>A c.390G>A n.166G>A n.3021G>A c.4039G>A (p.Val1347Met) c.3667G>A (p.Val1223Met) c.4030G>A (p.Val1344Met) c.3331G>A (p.Val1111Met) c.4078G>A (p.Val1360Met) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.3740449C>A | CA493280348 | CREBBP | c.4083G>T (p.Val1361=) c.3969G>T (p.Val1323=) c.2718G>T (p.Val906=) n.547G>T c.389G>T n.165G>T n.3020G>T c.4038G>T (p.Val1346=) c.3666G>T (p.Val1222=) c.4029G>T (p.Val1343=) c.3330G>T (p.Val1110=) c.4077G>T (p.Val1359=) | |
| 16 | g.3740449C>G | CA493280349 | CREBBP | c.4083G>C (p.Val1361=) c.3969G>C (p.Val1323=) c.2718G>C (p.Val906=) n.547G>C c.389G>C n.165G>C n.3020G>C c.4038G>C (p.Val1346=) c.3666G>C (p.Val1222=) c.4029G>C (p.Val1343=) c.3330G>C (p.Val1110=) c.4077G>C (p.Val1359=) | gnomAD v4 |
| 16 | g.3740449C>T | CA493280350 | CREBBP | c.4083G>A (p.Val1361=) c.3969G>A (p.Val1323=) c.2718G>A (p.Val906=) n.547G>A c.389G>A n.165G>A n.3020G>A c.4038G>A (p.Val1346=) c.3666G>A (p.Val1222=) c.4029G>A (p.Val1343=) c.3330G>A (p.Val1110=) c.4077G>A (p.Val1359=) | dbSNP |
| 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 |