WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.3744893C>A | CA394566448 | CREBBP | c.3982+1G>T (n.3982+1G>T) n.30+1G>T c.3868+1G>T (n.3868+1G>T) c.2617+1G>T (n.2617+1G>T) n.446+1G>T c.288+1G>T n.64+1G>T c.3937+1G>T (n.3937+1G>T) c.3565+1G>T (n.3565+1G>T) c.3928+1G>T (n.3928+1G>T) c.3229+1G>T (n.3229+1G>T) c.3976+1G>T (n.3976+1G>T) | |
| 16 | g.3744893C= | CA2202929895 | CREBBP | c.3982+1G= (n.3982+1G=) n.30+1G= c.3868+1G= (n.3868+1G=) c.2617+1G= (n.2617+1G=) n.446+1G= c.288+1G= n.64+1G= c.3937+1G= (n.3937+1G=) c.3565+1G= (n.3565+1G=) c.3928+1G= (n.3928+1G=) c.3229+1G= (n.3229+1G=) c.3976+1G= (n.3976+1G=) | |
| 16 | g.3744893C>G | CA394566452 | CREBBP | c.3982+1G>C (n.3982+1G>C) n.30+1G>C c.3868+1G>C (n.3868+1G>C) c.2617+1G>C (n.2617+1G>C) n.446+1G>C c.288+1G>C n.64+1G>C c.3937+1G>C (n.3937+1G>C) c.3565+1G>C (n.3565+1G>C) c.3928+1G>C (n.3928+1G>C) c.3229+1G>C (n.3229+1G>C) c.3976+1G>C (n.3976+1G>C) | |
| 16 | g.3744893C>T | CA222694 | CREBBP | c.3982+1G>A (n.3982+1G>A) n.30+1G>A c.3868+1G>A (n.3868+1G>A) c.2617+1G>A (n.2617+1G>A) n.446+1G>A c.288+1G>A n.64+1G>A c.3937+1G>A (n.3937+1G>A) c.3565+1G>A (n.3565+1G>A) c.3928+1G>A (n.3928+1G>A) c.3229+1G>A (n.3229+1G>A) c.3976+1G>A (n.3976+1G>A) | ClinVar dbSNP |
| 16 | g.3744894T>A | CA394566454 | CREBBP | c.3982A>T (p.Arg1328Trp) n.30A>T c.3868A>T (p.Arg1290Trp) c.2617A>T (p.Arg873Trp) n.446A>T c.288A>T n.64A>T c.3937A>T (p.Arg1313Trp) c.3565A>T (p.Arg1189Trp) c.3928A>T (p.Arg1310Trp) c.3229A>T (p.Arg1077Trp) c.3976A>T (p.Arg1326Trp) | |
| 16 | g.3744894T>C | CA394566456 | CREBBP | c.3982A>G (p.Arg1328Gly) n.30A>G c.3868A>G (p.Arg1290Gly) c.2617A>G (p.Arg873Gly) n.446A>G c.288A>G n.64A>G c.3937A>G (p.Arg1313Gly) c.3565A>G (p.Arg1189Gly) c.3928A>G (p.Arg1310Gly) c.3229A>G (p.Arg1077Gly) c.3976A>G (p.Arg1326Gly) | |
| 16 | g.3744894T>G | CA493281253 | CREBBP | c.3982A>C (p.Arg1328=) n.30A>C c.3868A>C (p.Arg1290=) c.2617A>C (p.Arg873=) n.446A>C c.288A>C n.64A>C c.3937A>C (p.Arg1313=) c.3565A>C (p.Arg1189=) c.3928A>C (p.Arg1310=) c.3229A>C (p.Arg1077=) c.3976A>C (p.Arg1326=) | |
| 16 | g.3744895C>A | CA394566458 | CREBBP | c.3981G>T (p.Lys1327Asn) n.29G>T c.3867G>T (p.Lys1289Asn) c.2616G>T (p.Lys872Asn) n.445G>T c.287G>T n.63G>T c.3936G>T (p.Lys1312Asn) c.3564G>T (p.Lys1188Asn) c.3927G>T (p.Lys1309Asn) c.3228G>T (p.Lys1076Asn) c.3975G>T (p.Lys1325Asn) | |
| 16 | g.3744895C>G | CA394566460 | CREBBP | c.3981G>C (p.Lys1327Asn) n.29G>C c.3867G>C (p.Lys1289Asn) c.2616G>C (p.Lys872Asn) n.445G>C c.287G>C n.63G>C c.3936G>C (p.Lys1312Asn) c.3564G>C (p.Lys1188Asn) c.3927G>C (p.Lys1309Asn) c.3228G>C (p.Lys1076Asn) c.3975G>C (p.Lys1325Asn) | |
| 16 | g.3744895C>T | CA493281254 | CREBBP | c.3981G>A (p.Lys1327=) n.29G>A c.3867G>A (p.Lys1289=) c.2616G>A (p.Lys872=) n.445G>A c.287G>A n.63G>A c.3936G>A (p.Lys1312=) c.3564G>A (p.Lys1188=) c.3927G>A (p.Lys1309=) c.3228G>A (p.Lys1076=) c.3975G>A (p.Lys1325=) | |
| 16 | g.3744896T>A | CA394566461 | CREBBP | c.3980A>T (p.Lys1327Met) n.28A>T c.3866A>T (p.Lys1289Met) c.2615A>T (p.Lys872Met) n.444A>T c.286A>T n.62A>T c.3935A>T (p.Lys1312Met) c.3563A>T (p.Lys1188Met) c.3926A>T (p.Lys1309Met) c.3227A>T (p.Lys1076Met) c.3974A>T (p.Lys1325Met) | |
| 16 | g.3744896T>C | CA394566463 | CREBBP | c.3980A>G (p.Lys1327Arg) n.28A>G c.3866A>G (p.Lys1289Arg) c.2615A>G (p.Lys872Arg) n.444A>G c.286A>G n.62A>G c.3935A>G (p.Lys1312Arg) c.3563A>G (p.Lys1188Arg) c.3926A>G (p.Lys1309Arg) c.3227A>G (p.Lys1076Arg) c.3974A>G (p.Lys1325Arg) | |
| 16 | g.3744896T>G | CA394566466 | CREBBP | c.3980A>C (p.Lys1327Thr) n.28A>C c.3866A>C (p.Lys1289Thr) c.2615A>C (p.Lys872Thr) n.444A>C c.286A>C n.62A>C c.3935A>C (p.Lys1312Thr) c.3563A>C (p.Lys1188Thr) c.3926A>C (p.Lys1309Thr) c.3227A>C (p.Lys1076Thr) c.3974A>C (p.Lys1325Thr) | |
| 16 | g.3744897T>A | CA394566467 | CREBBP | c.3979A>T (p.Lys1327Ter) n.27A>T c.3865A>T (p.Lys1289Ter) c.2614A>T (p.Lys872Ter) n.443A>T c.285A>T n.61A>T c.3934A>T (p.Lys1312Ter) c.3562A>T (p.Lys1188Ter) c.3925A>T (p.Lys1309Ter) c.3226A>T (p.Lys1076Ter) c.3973A>T (p.Lys1325Ter) | COSMIC |
| 16 | g.3744897T>C | CA394566469 | CREBBP | c.3979A>G (p.Lys1327Glu) n.27A>G c.3865A>G (p.Lys1289Glu) c.2614A>G (p.Lys872Glu) n.443A>G c.285A>G n.61A>G c.3934A>G (p.Lys1312Glu) c.3562A>G (p.Lys1188Glu) c.3925A>G (p.Lys1309Glu) c.3226A>G (p.Lys1076Glu) c.3973A>G (p.Lys1325Glu) | |
| 16 | g.3744897T>G | CA394566470 | CREBBP | c.3979A>C (p.Lys1327Gln) n.27A>C c.3865A>C (p.Lys1289Gln) c.2614A>C (p.Lys872Gln) n.443A>C c.285A>C n.61A>C c.3934A>C (p.Lys1312Gln) c.3562A>C (p.Lys1188Gln) c.3925A>C (p.Lys1309Gln) c.3226A>C (p.Lys1076Gln) c.3973A>C (p.Lys1325Gln) | |
| 16 | g.3744898A>C | CA493281256 | CREBBP | c.3978T>G (p.Ala1326=) n.26T>G c.3864T>G (p.Ala1288=) c.2613T>G (p.Ala871=) n.442T>G c.284T>G n.60T>G c.3933T>G (p.Ala1311=) c.3561T>G (p.Ala1187=) c.3924T>G (p.Ala1308=) c.3225T>G (p.Ala1075=) c.3972T>G (p.Ala1324=) | |
| 16 | g.3744898A>G | CA493281258 | CREBBP | c.3978T>C (p.Ala1326=) n.26T>C c.3864T>C (p.Ala1288=) c.2613T>C (p.Ala871=) n.442T>C c.284T>C n.60T>C c.3933T>C (p.Ala1311=) c.3561T>C (p.Ala1187=) c.3924T>C (p.Ala1308=) c.3225T>C (p.Ala1075=) c.3972T>C (p.Ala1324=) | ClinVar dbSNP |
| 16 | g.3744898A>T | CA493281259 | CREBBP | c.3978T>A (p.Ala1326=) n.26T>A c.3864T>A (p.Ala1288=) c.2613T>A (p.Ala871=) n.442T>A c.284T>A n.60T>A c.3933T>A (p.Ala1311=) c.3561T>A (p.Ala1187=) c.3924T>A (p.Ala1308=) c.3225T>A (p.Ala1075=) c.3972T>A (p.Ala1324=) | |
| 16 | g.3744898_3744899delinsAG | CA2202929898 | CREBBP | c.3977_3978delinsCT (p.Ala1326=) n.25_26delinsCT c.3863_3864delinsCT (p.Ala1288=) c.2612_2613delinsCT (p.Ala871=) n.441_442delinsCT c.283_284delinsCT n.59_60delinsCT c.3932_3933delinsCT (p.Ala1311=) c.3560_3561delinsCT (p.Ala1187=) c.3923_3924delinsCT (p.Ala1308=) c.3224_3225delinsCT (p.Ala1075=) c.3971_3972delinsCT (p.Ala1324=) | |
| 16 | g.3744899del | CA891843784 | CREBBP | c.3977del (p.Ala1326ValfsTer17) n.25del c.3863del (p.Ala1288ValfsTer17) c.2612del (p.Ala871ValfsTer17) n.441del c.283del n.59del c.3932del (p.Ala1311ValfsTer17) c.3560del (p.Ala1187ValfsTer17) c.3923del (p.Ala1308ValfsTer17) c.3224del (p.Ala1075ValfsTer17) c.3971del (p.Ala1324ValfsTer17) | ClinVar dbSNP |
| 16 | g.3744899G>A | CA394566476 | CREBBP | c.3977C>T (p.Ala1326Val) n.25C>T c.3863C>T (p.Ala1288Val) c.2612C>T (p.Ala871Val) n.441C>T c.283C>T n.59C>T c.3932C>T (p.Ala1311Val) c.3560C>T (p.Ala1187Val) c.3923C>T (p.Ala1308Val) c.3224C>T (p.Ala1075Val) c.3971C>T (p.Ala1324Val) | |
| 16 | g.3744899G>C | CA394566475 | CREBBP | c.3977C>G (p.Ala1326Gly) n.25C>G c.3863C>G (p.Ala1288Gly) c.2612C>G (p.Ala871Gly) n.441C>G c.283C>G n.59C>G c.3932C>G (p.Ala1311Gly) c.3560C>G (p.Ala1187Gly) c.3923C>G (p.Ala1308Gly) c.3224C>G (p.Ala1075Gly) c.3971C>G (p.Ala1324Gly) | |
| 16 | g.3744899G>T | CA394566473 | CREBBP | c.3977C>A (p.Ala1326Asp) n.25C>A c.3863C>A (p.Ala1288Asp) c.2612C>A (p.Ala871Asp) n.441C>A c.283C>A n.59C>A c.3932C>A (p.Ala1311Asp) c.3560C>A (p.Ala1187Asp) c.3923C>A (p.Ala1308Asp) c.3224C>A (p.Ala1075Asp) c.3971C>A (p.Ala1324Asp) | |
| 16 | g.3744900C>A | CA394566478 | CREBBP | c.3976G>T (p.Ala1326Ser) n.24G>T c.3862G>T (p.Ala1288Ser) c.2611G>T (p.Ala871Ser) n.440G>T c.282G>T n.58G>T c.3931G>T (p.Ala1311Ser) c.3559G>T (p.Ala1187Ser) c.3922G>T (p.Ala1308Ser) c.3223G>T (p.Ala1075Ser) c.3970G>T (p.Ala1324Ser) | |
| 16 | g.3744900C>G | CA394566482 | CREBBP | c.3976G>C (p.Ala1326Pro) n.24G>C c.3862G>C (p.Ala1288Pro) c.2611G>C (p.Ala871Pro) n.440G>C c.282G>C n.58G>C c.3931G>C (p.Ala1311Pro) c.3559G>C (p.Ala1187Pro) c.3922G>C (p.Ala1308Pro) c.3223G>C (p.Ala1075Pro) c.3970G>C (p.Ala1324Pro) | |
| 16 | g.3744900C>T | CA394566480 | CREBBP | c.3976G>A (p.Ala1326Thr) n.24G>A c.3862G>A (p.Ala1288Thr) c.2611G>A (p.Ala871Thr) n.440G>A c.282G>A n.58G>A c.3931G>A (p.Ala1311Thr) c.3559G>A (p.Ala1187Thr) c.3922G>A (p.Ala1308Thr) c.3223G>A (p.Ala1075Thr) c.3970G>A (p.Ala1324Thr) | |
| 16 | g.3744901A= | CA2202929900 | CREBBP | c.3975T= (p.Ser1325=) n.23T= c.3861T= (p.Ser1287=) c.2610T= (p.Ser870=) n.439T= c.281T= n.57T= c.3930T= (p.Ser1310=) c.3558T= (p.Ser1186=) c.3921T= (p.Ser1307=) c.3222T= (p.Ser1074=) c.3969T= (p.Ser1323=) | |
| 16 | g.3744901A>C | CA394566484 | CREBBP | c.3975T>G (p.Ser1325Arg) n.23T>G c.3861T>G (p.Ser1287Arg) c.2610T>G (p.Ser870Arg) n.439T>G c.281T>G n.57T>G c.3930T>G (p.Ser1310Arg) c.3558T>G (p.Ser1186Arg) c.3921T>G (p.Ser1307Arg) c.3222T>G (p.Ser1074Arg) c.3969T>G (p.Ser1323Arg) | |
| 16 | g.3744901A>G | CA276987209 | CREBBP | c.3975T>C (p.Ser1325=) n.23T>C c.3861T>C (p.Ser1287=) c.2610T>C (p.Ser870=) n.439T>C c.281T>C n.57T>C c.3930T>C (p.Ser1310=) c.3558T>C (p.Ser1186=) c.3921T>C (p.Ser1307=) c.3222T>C (p.Ser1074=) c.3969T>C (p.Ser1323=) | dbSNP gnomAD v4 |
| 16 | g.3744901A>T | CA394566485 | CREBBP | c.3975T>A (p.Ser1325Arg) n.23T>A c.3861T>A (p.Ser1287Arg) c.2610T>A (p.Ser870Arg) n.439T>A c.281T>A n.57T>A c.3930T>A (p.Ser1310Arg) c.3558T>A (p.Ser1186Arg) c.3921T>A (p.Ser1307Arg) c.3222T>A (p.Ser1074Arg) c.3969T>A (p.Ser1323Arg) | |
| 16 | g.3744902C>A | CA394566489 | CREBBP | c.3974G>T (p.Ser1325Ile) n.22G>T c.3860G>T (p.Ser1287Ile) c.2609G>T (p.Ser870Ile) n.438G>T c.280G>T n.56G>T c.3929G>T (p.Ser1310Ile) c.3557G>T (p.Ser1186Ile) c.3920G>T (p.Ser1307Ile) c.3221G>T (p.Ser1074Ile) c.3968G>T (p.Ser1323Ile) | ClinVar dbSNP |
| 16 | g.3744902C= | CA2202929902 | CREBBP | c.3974G= (p.Ser1325=) n.22G= c.3860G= (p.Ser1287=) c.2609G= (p.Ser870=) n.438G= c.280G= n.56G= c.3929G= (p.Ser1310=) c.3557G= (p.Ser1186=) c.3920G= (p.Ser1307=) c.3221G= (p.Ser1074=) c.3968G= (p.Ser1323=) | |
| 16 | g.3744902C>G | CA394566490 | CREBBP | c.3974G>C (p.Ser1325Thr) n.22G>C c.3860G>C (p.Ser1287Thr) c.2609G>C (p.Ser870Thr) n.438G>C c.280G>C n.56G>C c.3929G>C (p.Ser1310Thr) c.3557G>C (p.Ser1186Thr) c.3920G>C (p.Ser1307Thr) c.3221G>C (p.Ser1074Thr) c.3968G>C (p.Ser1323Thr) | |
| 16 | g.3744902C>T | CA7869653 | CREBBP | c.3974G>A (p.Ser1325Asn) n.22G>A c.3860G>A (p.Ser1287Asn) c.2609G>A (p.Ser870Asn) n.438G>A c.280G>A n.56G>A c.3929G>A (p.Ser1310Asn) c.3557G>A (p.Ser1186Asn) c.3920G>A (p.Ser1307Asn) c.3221G>A (p.Ser1074Asn) c.3968G>A (p.Ser1323Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.3744903T>A | CA394566494 | CREBBP | c.3973A>T (p.Ser1325Cys) n.21A>T c.3859A>T (p.Ser1287Cys) c.2608A>T (p.Ser870Cys) n.437A>T c.279A>T n.55A>T c.3928A>T (p.Ser1310Cys) c.3556A>T (p.Ser1186Cys) c.3919A>T (p.Ser1307Cys) c.3220A>T (p.Ser1074Cys) c.3967A>T (p.Ser1323Cys) | |
| 16 | g.3744903T>C | CA394566495 | CREBBP | c.3973A>G (p.Ser1325Gly) n.21A>G c.3859A>G (p.Ser1287Gly) c.2608A>G (p.Ser870Gly) n.437A>G c.279A>G n.55A>G c.3928A>G (p.Ser1310Gly) c.3556A>G (p.Ser1186Gly) c.3919A>G (p.Ser1307Gly) c.3220A>G (p.Ser1074Gly) c.3967A>G (p.Ser1323Gly) | |
| 16 | g.3744903T>G | CA276987224 | CREBBP | c.3973A>C (p.Ser1325Arg) n.21A>C c.3859A>C (p.Ser1287Arg) c.2608A>C (p.Ser870Arg) n.437A>C c.279A>C n.55A>C c.3928A>C (p.Ser1310Arg) c.3556A>C (p.Ser1186Arg) c.3919A>C (p.Ser1307Arg) c.3220A>C (p.Ser1074Arg) c.3967A>C (p.Ser1323Arg) | ClinVar dbSNP gnomAD v4 |
| 16 | g.3744903T= | CA2202929903 | CREBBP | c.3973A= (p.Ser1325=) n.21A= c.3859A= (p.Ser1287=) c.2608A= (p.Ser870=) n.437A= c.279A= n.55A= c.3928A= (p.Ser1310=) c.3556A= (p.Ser1186=) c.3919A= (p.Ser1307=) c.3220A= (p.Ser1074=) c.3967A= (p.Ser1323=) | |
| 16 | g.3744904G>A | CA493281266 | CREBBP | c.3972C>T (p.Phe1324=) n.20C>T c.3858C>T (p.Phe1286=) c.2607C>T (p.Phe869=) n.436C>T c.278C>T n.54C>T c.3927C>T (p.Phe1309=) c.3555C>T (p.Phe1185=) c.3918C>T (p.Phe1306=) c.3219C>T (p.Phe1073=) c.3966C>T (p.Phe1322=) | |
| 16 | g.3744904G>C | CA394566498 | CREBBP | c.3972C>G (p.Phe1324Leu) n.20C>G c.3858C>G (p.Phe1286Leu) c.2607C>G (p.Phe869Leu) n.436C>G c.278C>G n.54C>G c.3927C>G (p.Phe1309Leu) c.3555C>G (p.Phe1185Leu) c.3918C>G (p.Phe1306Leu) c.3219C>G (p.Phe1073Leu) c.3966C>G (p.Phe1322Leu) | gnomAD v4 |
| 16 | g.3744904G>T | CA394566500 | CREBBP | c.3972C>A (p.Phe1324Leu) n.20C>A c.3858C>A (p.Phe1286Leu) c.2607C>A (p.Phe869Leu) n.436C>A c.278C>A n.54C>A c.3927C>A (p.Phe1309Leu) c.3555C>A (p.Phe1185Leu) c.3918C>A (p.Phe1306Leu) c.3219C>A (p.Phe1073Leu) c.3966C>A (p.Phe1322Leu) | |
| 16 | g.3744905A= | CA2202929905 | CREBBP | c.3971T= (p.Phe1324=) n.19T= c.3857T= (p.Phe1286=) c.2606T= (p.Phe869=) n.435T= c.277T= n.53T= c.3926T= (p.Phe1309=) c.3554T= (p.Phe1185=) c.3917T= (p.Phe1306=) c.3218T= (p.Phe1073=) c.3965T= (p.Phe1322=) | |
| 16 | g.3744905A>C | CA394566503 | CREBBP | c.3971T>G (p.Phe1324Cys) n.19T>G c.3857T>G (p.Phe1286Cys) c.2606T>G (p.Phe869Cys) n.435T>G c.277T>G n.53T>G c.3926T>G (p.Phe1309Cys) c.3554T>G (p.Phe1185Cys) c.3917T>G (p.Phe1306Cys) c.3218T>G (p.Phe1073Cys) c.3965T>G (p.Phe1322Cys) | |
| 16 | g.3744905A>G | CA394566505 | CREBBP | c.3971T>C (p.Phe1324Ser) n.19T>C c.3857T>C (p.Phe1286Ser) c.2606T>C (p.Phe869Ser) n.435T>C c.277T>C n.53T>C c.3926T>C (p.Phe1309Ser) c.3554T>C (p.Phe1185Ser) c.3917T>C (p.Phe1306Ser) c.3218T>C (p.Phe1073Ser) c.3965T>C (p.Phe1322Ser) | |
| 16 | g.3744905A>T | CA394566507 | CREBBP | c.3971T>A (p.Phe1324Tyr) n.19T>A c.3857T>A (p.Phe1286Tyr) c.2606T>A (p.Phe869Tyr) n.435T>A c.277T>A n.53T>A c.3926T>A (p.Phe1309Tyr) c.3554T>A (p.Phe1185Tyr) c.3917T>A (p.Phe1306Tyr) c.3218T>A (p.Phe1073Tyr) c.3965T>A (p.Phe1322Tyr) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.3744906A= | CA2202929907 | CREBBP | c.3970T= (p.Phe1324=) n.18T= c.3856T= (p.Phe1286=) c.2605T= (p.Phe869=) n.434T= c.276T= n.52T= c.3925T= (p.Phe1309=) c.3553T= (p.Phe1185=) c.3916T= (p.Phe1306=) c.3217T= (p.Phe1073=) c.3964T= (p.Phe1322=) | |
| 16 | g.3744906A>C | CA394566510 | CREBBP | c.3970T>G (p.Phe1324Val) n.18T>G c.3856T>G (p.Phe1286Val) c.2605T>G (p.Phe869Val) n.434T>G c.276T>G n.52T>G c.3925T>G (p.Phe1309Val) c.3553T>G (p.Phe1185Val) c.3916T>G (p.Phe1306Val) c.3217T>G (p.Phe1073Val) c.3964T>G (p.Phe1322Val) | |
| 16 | g.3744906A>G | CA394566509 | CREBBP | c.3970T>C (p.Phe1324Leu) n.18T>C c.3856T>C (p.Phe1286Leu) c.2605T>C (p.Phe869Leu) n.434T>C c.276T>C n.52T>C c.3925T>C (p.Phe1309Leu) c.3553T>C (p.Phe1185Leu) c.3916T>C (p.Phe1306Leu) c.3217T>C (p.Phe1073Leu) c.3964T>C (p.Phe1322Leu) | |
| 16 | g.3744906A>T | CA7869654 | CREBBP | c.3970T>A (p.Phe1324Ile) n.18T>A c.3856T>A (p.Phe1286Ile) c.2605T>A (p.Phe869Ile) n.434T>A c.276T>A n.52T>A c.3925T>A (p.Phe1309Ile) c.3553T>A (p.Phe1185Ile) c.3916T>A (p.Phe1306Ile) c.3217T>A (p.Phe1073Ile) c.3964T>A (p.Phe1322Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |