Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.3793348T>C | CA2535631434 | CREBBP | c.1216+38A>G (n.1216+38A>G) c.1162+38A>G (n.1162+38A>G) c.463+38A>G (n.463+38A>G) | gnomAD v4 |
16 | g.3793348T>G | CA2631429378 | CREBBP | c.1216+38A>C (n.1216+38A>C) c.1162+38A>C (n.1162+38A>C) c.463+38A>C (n.463+38A>C) | gnomAD v4 |
16 | g.3793350A>T | CA2731711693 | CREBBP | c.1216+36T>A (n.1216+36T>A) c.1162+36T>A (n.1162+36T>A) c.463+36T>A (n.463+36T>A) | dbSNP |
16 | g.3793351C= | CA2202954880 | CREBBP | c.1216+35G= (n.1216+35G=) c.1162+35G= (n.1162+35G=) c.463+35G= (n.463+35G=) | |
16 | g.3793351C>G | CA720722838 | CREBBP | c.1216+35G>C (n.1216+35G>C) c.1162+35G>C (n.1162+35G>C) c.463+35G>C (n.463+35G>C) | dbSNP |
16 | g.3793351C>T | CA620714635 | CREBBP | c.1216+35G>A (n.1216+35G>A) c.1162+35G>A (n.1162+35G>A) c.463+35G>A (n.463+35G>A) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.3793352C= | CA2202954883 | CREBBP | c.1216+34G= (n.1216+34G=) c.1162+34G= (n.1162+34G=) c.463+34G= (n.463+34G=) | |
16 | g.3793352C>T | CA276986446 | CREBBP | c.1216+34G>A (n.1216+34G>A) c.1162+34G>A (n.1162+34G>A) c.463+34G>A (n.463+34G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3793353T>C | CA7870496 | CREBBP | c.1216+33A>G (n.1216+33A>G) c.1162+33A>G (n.1162+33A>G) c.463+33A>G (n.463+33A>G) | dbSNP ExAC gnomAD v2 |
16 | g.3793353T= | CA2202954884 | CREBBP | c.1216+33A= (n.1216+33A=) c.1162+33A= (n.1162+33A=) c.463+33A= (n.463+33A=) | |
16 | g.3793355T>A | CA2631429379 | CREBBP | c.1216+31A>T (n.1216+31A>T) c.1162+31A>T (n.1162+31A>T) c.463+31A>T (n.463+31A>T) | gnomAD v4 |
16 | g.3793356_3793357delinsAC | CA2202954885 | CREBBP | c.1216+29_1216+30delinsGT (n.1216+29_1216+30delinsGT) c.1162+29_1162+30delinsGT (n.1162+29_1162+30delinsGT) c.463+29_463+30delinsGT (n.463+29_463+30delinsGT) | |
16 | g.3793357C>T | CA2631429380 | CREBBP | c.1216+29G>A (n.1216+29G>A) c.1162+29G>A (n.1162+29G>A) c.463+29G>A (n.463+29G>A) | gnomAD v4 |
16 | g.3793358del | CA620714637 | CREBBP | c.1216+29del (n.1216+29del) c.1162+29del (n.1162+29del) c.463+29del (n.463+29del) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.3793358C>A | CA7870497 | CREBBP | c.1216+28G>T (n.1216+28G>T) c.1162+28G>T (n.1162+28G>T) c.463+28G>T (n.463+28G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.3793358C= | CA2202954888 | CREBBP | c.1216+28G= (n.1216+28G=) c.1162+28G= (n.1162+28G=) c.463+28G= (n.463+28G=) | |
16 | g.3793358C>T | CA973916133 | CREBBP | c.1216+28G>A (n.1216+28G>A) c.1162+28G>A (n.1162+28G>A) c.463+28G>A (n.463+28G>A) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.3793359A= | CA2202954894 | CREBBP | c.1216+27T= (n.1216+27T=) c.1162+27T= (n.1162+27T=) c.463+27T= (n.463+27T=) | |
16 | g.3793359A>G | CA720722845 | CREBBP | c.1216+27T>C (n.1216+27T>C) c.1162+27T>C (n.1162+27T>C) c.463+27T>C (n.463+27T>C) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.3793360C>G | CA2631429381 | CREBBP | c.1216+26G>C (n.1216+26G>C) c.1162+26G>C (n.1162+26G>C) c.463+26G>C (n.463+26G>C) | gnomAD v4 |
16 | g.3793361T>C | CA7870498 | CREBBP | c.1216+25A>G (n.1216+25A>G) c.1162+25A>G (n.1162+25A>G) c.463+25A>G (n.463+25A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.3793361T>G | CA2631429382 | CREBBP | c.1216+25A>C (n.1216+25A>C) c.1162+25A>C (n.1162+25A>C) c.463+25A>C (n.463+25A>C) | gnomAD v4 |
16 | g.3793361T= | CA2202954898 | CREBBP | c.1216+25A= (n.1216+25A=) c.1162+25A= (n.1162+25A=) c.463+25A= (n.463+25A=) | |
16 | g.3793362A= | CA2202954900 | CREBBP | c.1216+24T= (n.1216+24T=) c.1162+24T= (n.1162+24T=) c.463+24T= (n.463+24T=) | |
16 | g.3793362A>G | CA2202954901 | CREBBP | c.1216+24T>C (n.1216+24T>C) c.1162+24T>C (n.1162+24T>C) c.463+24T>C (n.463+24T>C) | dbSNP |
16 | g.3793363G>C | CA2631429383 | CREBBP | c.1216+23C>G (n.1216+23C>G) c.1162+23C>G (n.1162+23C>G) c.463+23C>G (n.463+23C>G) | dbSNP gnomAD v4 |
16 | g.3793364del | CA2631429384 | CREBBP | c.1216+23del (n.1216+23del) c.1162+23del (n.1162+23del) c.463+23del (n.463+23del) | gnomAD v4 |
16 | g.3793364G>A | CA276986458 | CREBBP | c.1216+22C>T (n.1216+22C>T) c.1162+22C>T (n.1162+22C>T) c.463+22C>T (n.463+22C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3793364G>C | CA7870499 | CREBBP | c.1216+22C>G (n.1216+22C>G) c.1162+22C>G (n.1162+22C>G) c.463+22C>G (n.463+22C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3793364G= | CA2202954902 | CREBBP | c.1216+22C= (n.1216+22C=) c.1162+22C= (n.1162+22C=) c.463+22C= (n.463+22C=) | |
16 | g.3793366G>A | CA2805636013 | CREBBP | c.1216+20C>T (n.1216+20C>T) c.1162+20C>T (n.1162+20C>T) c.463+20C>T (n.463+20C>T) | |
16 | g.3793366G= | CA2202954906 | CREBBP | c.1216+20C= (n.1216+20C=) c.1162+20C= (n.1162+20C=) c.463+20C= (n.463+20C=) | |
16 | g.3793366G>T | CA7870500 | CREBBP | c.1216+20C>A (n.1216+20C>A) c.1162+20C>A (n.1162+20C>A) c.463+20C>A (n.463+20C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3793368T>G | CA7870501 | CREBBP | c.1216+18A>C (n.1216+18A>C) c.1162+18A>C (n.1162+18A>C) c.463+18A>C (n.463+18A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.3793368T= | CA2202954911 | CREBBP | c.1216+18A= (n.1216+18A=) c.1162+18A= (n.1162+18A=) c.463+18A= (n.463+18A=) | |
16 | g.3793369C>A | CA2631429385 | CREBBP | c.1216+17G>T (n.1216+17G>T) c.1162+17G>T (n.1162+17G>T) c.463+17G>T (n.463+17G>T) | gnomAD v4 |
16 | g.3793369C>T | CA2631429386 | CREBBP | c.1216+17G>A (n.1216+17G>A) c.1162+17G>A (n.1162+17G>A) c.463+17G>A (n.463+17G>A) | gnomAD v4 |
16 | g.3793370C= | CA2202954913 | CREBBP | c.1216+16G= (n.1216+16G=) c.1162+16G= (n.1162+16G=) c.463+16G= (n.463+16G=) | |
16 | g.3793371A>C | CA2631429387 | CREBBP | c.1216+15T>G (n.1216+15T>G) c.1162+15T>G (n.1162+15T>G) c.463+15T>G (n.463+15T>G) | dbSNP gnomAD v4 |
16 | g.3793375dup | CA2202954914 | CREBBP | c.1216+15dup (n.1216+15dup) c.1162+15dup (n.1162+15dup) c.463+15dup (n.463+15dup) | dbSNP |
16 | g.3793375del | CA656223817 | CREBBP | c.1216+15del (n.1216+15del) c.1162+15del (n.1162+15del) c.463+15del (n.463+15del) | dbSNP gnomAD v4 COSMIC |
16 | g.3793373A>C | CA2631429388 | CREBBP | c.1216+13T>G (n.1216+13T>G) c.1162+13T>G (n.1162+13T>G) c.463+13T>G (n.463+13T>G) | gnomAD v4 |
16 | g.3793375A= | CA2202954916 | CREBBP | c.1216+11T= (n.1216+11T=) c.1162+11T= (n.1162+11T=) c.463+11T= (n.463+11T=) | |
16 | g.3793375A>T | CA620714641 | CREBBP | c.1216+11T>A (n.1216+11T>A) c.1162+11T>A (n.1162+11T>A) c.463+11T>A (n.463+11T>A) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.3793376C>T | CA2631429389 | CREBBP | c.1216+10G>A (n.1216+10G>A) c.1162+10G>A (n.1162+10G>A) c.463+10G>A (n.463+10G>A) | dbSNP gnomAD v4 |
16 | g.3793377A>G | CA2631429390 | CREBBP | c.1216+9T>C (n.1216+9T>C) c.1162+9T>C (n.1162+9T>C) c.463+9T>C (n.463+9T>C) | gnomAD v4 |
16 | g.3793378G>C | CA2731711921 | CREBBP | c.1216+8C>G (n.1216+8C>G) c.1162+8C>G (n.1162+8C>G) c.463+8C>G (n.463+8C>G) | dbSNP |
16 | g.3793378G>T | CA2631429391 | CREBBP | c.1216+8C>A (n.1216+8C>A) c.1162+8C>A (n.1162+8C>A) c.463+8C>A (n.463+8C>A) | gnomAD v4 |
16 | g.3793379C>T | CA2731711924 | CREBBP | c.1216+7G>A (n.1216+7G>A) c.1162+7G>A (n.1162+7G>A) c.463+7G>A (n.463+7G>A) | dbSNP |
16 | g.3793381C>A | CA2731711956 | CREBBP | c.1216+5G>T (n.1216+5G>T) c.1162+5G>T (n.1162+5G>T) c.463+5G>T (n.463+5G>T) | dbSNP |
16 | g.3793381C>T | CA645596806 | CREBBP | c.1216+5G>A (n.1216+5G>A) c.1162+5G>A (n.1162+5G>A) c.463+5G>A (n.463+5G>A) | COSMIC |
16 | g.3793382T>C | CA2580091135 | CREBBP | c.1216+4A>G (n.1216+4A>G) c.1162+4A>G (n.1162+4A>G) c.463+4A>G (n.463+4A>G) | ClinVar |
16 | g.3793383T>C | CA620714642 | CREBBP | c.1216+3A>G (n.1216+3A>G) c.1162+3A>G (n.1162+3A>G) c.463+3A>G (n.463+3A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3793383T= | CA2202954918 | CREBBP | c.1216+3A= (n.1216+3A=) c.1162+3A= (n.1162+3A=) c.463+3A= (n.463+3A=) | |
16 | g.3793384A= | CA2202954924 | CREBBP | c.1216+2T= (n.1216+2T=) c.1162+2T= (n.1162+2T=) c.463+2T= (n.463+2T=) | |
16 | g.3793384A>C | CA394562024 | CREBBP | c.1216+2T>G (n.1216+2T>G) c.1162+2T>G (n.1162+2T>G) c.463+2T>G (n.463+2T>G) | |
16 | g.3793384A>G | CA394562026 | CREBBP | c.1216+2T>C (n.1216+2T>C) c.1162+2T>C (n.1162+2T>C) c.463+2T>C (n.463+2T>C) | |
16 | g.3793384A>T | CA394562029 | CREBBP | c.1216+2T>A (n.1216+2T>A) c.1162+2T>A (n.1162+2T>A) c.463+2T>A (n.463+2T>A) | ClinVar dbSNP |
16 | g.3793385C>A | CA394562037 | CREBBP | c.1216+1G>T (n.1216+1G>T) c.1162+1G>T (n.1162+1G>T) c.463+1G>T (n.463+1G>T) | |
16 | g.3793385C>G | CA394562040 | CREBBP | c.1216+1G>C (n.1216+1G>C) c.1162+1G>C (n.1162+1G>C) c.463+1G>C (n.463+1G>C) | |
16 | g.3793385C>T | CA394562044 | CREBBP | c.1216+1G>A (n.1216+1G>A) c.1162+1G>A (n.1162+1G>A) c.463+1G>A (n.463+1G>A) | |
16 | g.3793386C>A | CA394562048 | CREBBP | c.1216G>T (p.Val406Phe) c.1216G>T (p.Ala406Ser) c.1162G>T (p.Val388Phe) c.463G>T (p.Val155Phe) | |
16 | g.3793386C>G | CA394562053 | CREBBP | c.1216G>C (p.Val406Leu) c.1216G>C (p.Ala406Pro) c.1162G>C (p.Val388Leu) c.463G>C (p.Val155Leu) | COSMIC |
16 | g.3793386C>T | CA394562057 | CREBBP | c.1216G>A (p.Val406Ile) c.1216G>A (p.Ala406Thr) c.1162G>A (p.Val388Ile) c.463G>A (p.Val155Ile) | |
16 | g.3793387T>A | CA394562063 | CREBBP | c.1215A>T (p.Gln405His) c.1161A>T (p.Gln387His) c.462A>T (p.Gln154His) | |
16 | g.3793387T>C | CA493394805 | CREBBP | c.1215A>G (p.Gln405=) c.1161A>G (p.Gln387=) c.462A>G (p.Gln154=) | |
16 | g.3793387T>G | CA394562066 | CREBBP | c.1215A>C (p.Gln405His) c.1161A>C (p.Gln387His) c.462A>C (p.Gln154His) | |
16 | g.3793388T>A | CA394562070 | CREBBP | c.1214A>T (p.Gln405Leu) c.1160A>T (p.Gln387Leu) c.461A>T (p.Gln154Leu) | |
16 | g.3793388T>C | CA394562073 | CREBBP | c.1214A>G (p.Gln405Arg) c.1160A>G (p.Gln387Arg) c.461A>G (p.Gln154Arg) | |
16 | g.3793388T>G | CA394562074 | CREBBP | c.1214A>C (p.Gln405Pro) c.1160A>C (p.Gln387Pro) c.461A>C (p.Gln154Pro) | |
16 | g.3793389G>A | CA394562080 | CREBBP | c.1213C>T (p.Gln405Ter) c.1159C>T (p.Gln387Ter) c.460C>T (p.Gln154Ter) | |
16 | g.3793389G>C | CA394562085 | CREBBP | c.1213C>G (p.Gln405Glu) c.1159C>G (p.Gln387Glu) c.460C>G (p.Gln154Glu) | ClinVar dbSNP |
16 | g.3793389G= | CA2202954928 | CREBBP | c.1213C= (p.Gln405=) c.1159C= (p.Gln387=) c.460C= (p.Gln154=) | |
16 | g.3793389G>T | CA394562088 | CREBBP | c.1213C>A (p.Gln405Lys) c.1159C>A (p.Gln387Lys) c.460C>A (p.Gln154Lys) | gnomAD v4 |
16 | g.3793390G>A | CA493394812 | CREBBP | c.1212C>T (p.Cys404=) c.1158C>T (p.Cys386=) c.459C>T (p.Cys153=) | dbSNP gnomAD v4 |
16 | g.3793390G>C | CA394562096 | CREBBP | c.1212C>G (p.Cys404Trp) c.1158C>G (p.Cys386Trp) c.459C>G (p.Cys153Trp) | |
16 | g.3793390G= | CA2202954934 | CREBBP | c.1212C= (p.Cys404=) c.1158C= (p.Cys386=) c.459C= (p.Cys153=) | |
16 | g.3793390G>T | CA394562092 | CREBBP | c.1212C>A (p.Cys404Ter) c.1158C>A (p.Cys386Ter) c.459C>A (p.Cys153Ter) | |
16 | g.3793391C>A | CA394562101 | CREBBP | c.1211G>T (p.Cys404Phe) c.1157G>T (p.Cys386Phe) c.458G>T (p.Cys153Phe) | dbSNP |
16 | g.3793391C= | CA2202954938 | CREBBP | c.1211G= (p.Cys404=) c.1157G= (p.Cys386=) c.458G= (p.Cys153=) | |
16 | g.3793391C>G | CA171785 | CREBBP | c.1211G>C (p.Cys404Ser) c.1157G>C (p.Cys386Ser) c.458G>C (p.Cys153Ser) | ClinVar dbSNP |
16 | g.3793391C>T | CA394562108 | CREBBP | c.1211G>A (p.Cys404Tyr) c.1157G>A (p.Cys386Tyr) c.458G>A (p.Cys153Tyr) | |
16 | g.3793392A>C | CA394562112 | CREBBP | c.1210T>G (p.Cys404Gly) c.1156T>G (p.Cys386Gly) c.457T>G (p.Cys153Gly) | |
16 | g.3793392A>G | CA394562114 | CREBBP | c.1210T>C (p.Cys404Arg) c.1156T>C (p.Cys386Arg) c.457T>C (p.Cys153Arg) | |
16 | g.3793392A>T | CA394562116 | CREBBP | c.1210T>A (p.Cys404Ser) c.1156T>A (p.Cys386Ser) c.457T>A (p.Cys153Ser) | |
16 | g.3793393G>A | CA493394815 | CREBBP | c.1209C>T (p.Ala403=) c.1155C>T (p.Ala385=) c.456C>T (p.Ala152=) | |
16 | g.3793393G>C | CA493394821 | CREBBP | c.1209C>G (p.Ala403=) c.1155C>G (p.Ala385=) c.456C>G (p.Ala152=) | |
16 | g.3793393G>T | CA493394822 | CREBBP | c.1209C>A (p.Ala403=) c.1155C>A (p.Ala385=) c.456C>A (p.Ala152=) | |
16 | g.3793394G>A | CA394562123 | CREBBP | c.1208C>T (p.Ala403Val) c.1154C>T (p.Ala385Val) c.455C>T (p.Ala152Val) | dbSNP |
16 | g.3793394G>C | CA394562130 | CREBBP | c.1208C>G (p.Ala403Gly) c.1154C>G (p.Ala385Gly) c.455C>G (p.Ala152Gly) | |
16 | g.3793394G>T | CA394562127 | CREBBP | c.1208C>A (p.Ala403Asp) c.1154C>A (p.Ala385Asp) c.455C>A (p.Ala152Asp) | |
16 | g.3793395C>A | CA394562137 | CREBBP | c.1207G>T (p.Ala403Ser) c.1153G>T (p.Ala385Ser) c.454G>T (p.Ala152Ser) | |
16 | g.3793395C= | CA2202954941 | CREBBP | c.1207G= (p.Ala403=) c.1153G= (p.Ala385=) c.454G= (p.Ala152=) | |
16 | g.3793395C>G | CA394562142 | CREBBP | c.1207G>C (p.Ala403Pro) c.1153G>C (p.Ala385Pro) c.454G>C (p.Ala152Pro) | |
16 | g.3793395C>T | CA394562145 | CREBBP | c.1207G>A (p.Ala403Thr) c.1153G>A (p.Ala385Thr) c.454G>A (p.Ala152Thr) | dbSNP |
16 | g.3793396T>A | CA394562150 | CREBBP | c.1206A>T (p.Lys402Asn) c.1152A>T (p.Lys384Asn) c.453A>T (p.Lys151Asn) | |
16 | g.3793396T>C | CA493394830 | CREBBP | c.1206A>G (p.Lys402=) c.1152A>G (p.Lys384=) c.453A>G (p.Lys151=) | |
16 | g.3793396T>G | CA394562152 | CREBBP | c.1206A>C (p.Lys402Asn) c.1152A>C (p.Lys384Asn) c.453A>C (p.Lys151Asn) | |
16 | g.3793397T>A | CA394562157 | CREBBP | c.1205A>T (p.Lys402Ile) c.1151A>T (p.Lys384Ile) c.452A>T (p.Lys151Ile) | |
16 | g.3793397T>C | CA394562161 | CREBBP | c.1205A>G (p.Lys402Arg) c.1151A>G (p.Lys384Arg) c.452A>G (p.Lys151Arg) | |
16 | g.3793397T>G | CA394562165 | CREBBP | c.1205A>C (p.Lys402Thr) c.1151A>C (p.Lys384Thr) c.452A>C (p.Lys151Thr) | |
16 | g.3793398T>A | CA394562170 | CREBBP | c.1204A>T (p.Lys402Ter) c.1150A>T (p.Lys384Ter) c.451A>T (p.Lys151Ter) | |
16 | g.3793398T>C | CA394562173 | CREBBP | c.1204A>G (p.Lys402Glu) c.1150A>G (p.Lys384Glu) c.451A>G (p.Lys151Glu) | |
16 | g.3793398T>G | CA394562177 | CREBBP | c.1204A>C (p.Lys402Gln) c.1150A>C (p.Lys384Gln) c.451A>C (p.Lys151Gln) | |
16 | g.3793399C>A | CA493394834 | CREBBP | c.1203G>T (p.Gly401=) c.1149G>T (p.Gly383=) c.450G>T (p.Gly150=) | |
16 | g.3793399C>G | CA493394836 | CREBBP | c.1203G>C (p.Gly401=) c.1149G>C (p.Gly383=) c.450G>C (p.Gly150=) | |
16 | g.3793399C>T | CA493394837 | CREBBP | c.1203G>A (p.Gly401=) c.1149G>A (p.Gly383=) c.450G>A (p.Gly150=) | |
16 | g.3793400C>A | CA394562189 | CREBBP | c.1202G>T (p.Gly401Val) c.1148G>T (p.Gly383Val) c.449G>T (p.Gly150Val) | |
16 | g.3793400C>G | CA394562183 | CREBBP | c.1202G>C (p.Gly401Ala) c.1148G>C (p.Gly383Ala) c.449G>C (p.Gly150Ala) | |
16 | g.3793400C>T | CA394562187 | CREBBP | c.1202G>A (p.Gly401Glu) c.1148G>A (p.Gly383Glu) c.449G>A (p.Gly150Glu) | ClinVar dbSNP |
16 | g.3793401C>A | CA394562193 | CREBBP | c.1201G>T (p.Gly401Trp) c.1147G>T (p.Gly383Trp) c.448G>T (p.Gly150Trp) | gnomAD v4 COSMIC |
16 | g.3793401C>G | CA394562196 | CREBBP | c.1201G>C (p.Gly401Arg) c.1147G>C (p.Gly383Arg) c.448G>C (p.Gly150Arg) | |
16 | g.3793401C>T | CA394562202 | CREBBP | c.1201G>A (p.Gly401Arg) c.1147G>A (p.Gly383Arg) c.448G>A (p.Gly150Arg) | |
16 | g.3793402A>C | CA493394839 | CREBBP | c.1200T>G (p.Ala400=) c.1146T>G (p.Ala382=) c.447T>G (p.Ala149=) | |
16 | g.3793402A>G | CA493394840 | CREBBP | c.1200T>C (p.Ala400=) c.1146T>C (p.Ala382=) c.447T>C (p.Ala149=) | |
16 | g.3793402A>T | CA493394841 | CREBBP | c.1200T>A (p.Ala400=) c.1146T>A (p.Ala382=) c.447T>A (p.Ala149=) | |
16 | g.3793403G>A | CA394562207 | CREBBP | c.1199C>T (p.Ala400Val) c.1145C>T (p.Ala382Val) c.446C>T (p.Ala149Val) | |
16 | g.3793403G>C | CA394562212 | CREBBP | c.1199C>G (p.Ala400Gly) c.1145C>G (p.Ala382Gly) c.446C>G (p.Ala149Gly) | dbSNP gnomAD v4 |
16 | g.3793403G>T | CA394562221 | CREBBP | c.1199C>A (p.Ala400Asp) c.1145C>A (p.Ala382Asp) c.446C>A (p.Ala149Asp) | |
16 | g.3793404C>A | CA394562230 | CREBBP | c.1198G>T (p.Ala400Ser) c.1144G>T (p.Ala382Ser) c.445G>T (p.Ala149Ser) | gnomAD v4 |
16 | g.3793404C>G | CA394562226 | CREBBP | c.1198G>C (p.Ala400Pro) c.1144G>C (p.Ala382Pro) c.445G>C (p.Ala149Pro) | |
16 | g.3793404C>T | CA394562228 | CREBBP | c.1198G>A (p.Ala400Thr) c.1144G>A (p.Ala382Thr) c.445G>A (p.Ala149Thr) | dbSNP |
16 | g.3793405C>A | CA394562233 | CREBBP | c.1197G>T (p.Gln399His) c.1143G>T (p.Gln381His) c.444G>T (p.Gln148His) | |
16 | g.3793405C>G | CA394562236 | CREBBP | c.1197G>C (p.Gln399His) c.1143G>C (p.Gln381His) c.444G>C (p.Gln148His) | |
16 | g.3793405C>T | CA493394660 | CREBBP | c.1197G>A (p.Gln399=) c.1143G>A (p.Gln381=) c.444G>A (p.Gln148=) | gnomAD v4 |
16 | g.3793406T>A | CA394562240 | CREBBP | c.1196A>T (p.Gln399Leu) c.1142A>T (p.Gln381Leu) c.443A>T (p.Gln148Leu) | |
16 | g.3793406T>C | CA394562244 | CREBBP | c.1196A>G (p.Gln399Arg) c.1142A>G (p.Gln381Arg) c.443A>G (p.Gln148Arg) | gnomAD v4 |
16 | g.3793406T>G | CA394562248 | CREBBP | c.1196A>C (p.Gln399Pro) c.1142A>C (p.Gln381Pro) c.443A>C (p.Gln148Pro) | |
16 | g.3793407G>A | CA394562263 | CREBBP | c.1195C>T (p.Gln399Ter) c.1141C>T (p.Gln381Ter) c.442C>T (p.Gln148Ter) | |
16 | g.3793407G>C | CA394562256 | CREBBP | c.1195C>G (p.Gln399Glu) c.1141C>G (p.Gln381Glu) c.442C>G (p.Gln148Glu) | |
16 | g.3793407G>T | CA394562261 | CREBBP | c.1195C>A (p.Gln399Lys) c.1141C>A (p.Gln381Lys) c.442C>A (p.Gln148Lys) | gnomAD v4 |
16 | g.3793408A>C | CA394562267 | CREBBP | c.1194T>G (p.Cys398Trp) c.1140T>G (p.Cys380Trp) c.441T>G (p.Cys147Trp) | |
16 | g.3793408A>G | CA493394661 | CREBBP | c.1194T>C (p.Cys398=) c.1140T>C (p.Cys380=) c.441T>C (p.Cys147=) | |
16 | g.3793408A>T | CA394562268 | CREBBP | c.1194T>A (p.Cys398Ter) c.1140T>A (p.Cys380Ter) c.441T>A (p.Cys147Ter) | |
16 | g.3793409C>A | CA394562270 | CREBBP | c.1193G>T (p.Cys398Phe) c.1139G>T (p.Cys380Phe) c.440G>T (p.Cys147Phe) | |
16 | g.3793409C>G | CA394562273 | CREBBP | c.1193G>C (p.Cys398Ser) c.1139G>C (p.Cys380Ser) c.440G>C (p.Cys147Ser) | |
16 | g.3793409C>T | CA394562275 | CREBBP | c.1193G>A (p.Cys398Tyr) c.1139G>A (p.Cys380Tyr) c.440G>A (p.Cys147Tyr) | |
16 | g.3793410A>C | CA394562282 | CREBBP | c.1192T>G (p.Cys398Gly) c.1138T>G (p.Cys380Gly) c.439T>G (p.Cys147Gly) | |
16 | g.3793410A>G | CA394562285 | CREBBP | c.1192T>C (p.Cys398Arg) c.1138T>C (p.Cys380Arg) c.439T>C (p.Cys147Arg) | |
16 | g.3793410A>T | CA394562288 | CREBBP | c.1192T>A (p.Cys398Ser) c.1138T>A (p.Cys380Ser) c.439T>A (p.Cys147Ser) | |
16 | g.3793411A>C | CA394562299 | CREBBP | c.1191T>G (p.His397Gln) c.1137T>G (p.His379Gln) c.438T>G (p.His146Gln) | |
16 | g.3793411A>G | CA493394662 | CREBBP | c.1191T>C (p.His397=) c.1137T>C (p.His379=) c.438T>C (p.His146=) | |
16 | g.3793411A>T | CA394562302 | CREBBP | c.1191T>A (p.His397Gln) c.1137T>A (p.His379Gln) c.438T>A (p.His146Gln) | |
16 | g.3793412T>A | CA394562308 | CREBBP | c.1190A>T (p.His397Leu) c.1136A>T (p.His379Leu) c.437A>T (p.His146Leu) | |
16 | g.3793412T>C | CA394562313 | CREBBP | c.1190A>G (p.His397Arg) c.1136A>G (p.His379Arg) c.437A>G (p.His146Arg) | |
16 | g.3793412T>G | CA394562315 | CREBBP | c.1190A>C (p.His397Pro) c.1136A>C (p.His379Pro) c.437A>C (p.His146Pro) | |
16 | g.3793413G>A | CA394562330 | CREBBP | c.1189C>T (p.His397Tyr) c.1135C>T (p.His379Tyr) c.436C>T (p.His146Tyr) | |
16 | g.3793413G>C | CA394562321 | CREBBP | c.1189C>G (p.His397Asp) c.1135C>G (p.His379Asp) c.436C>G (p.His146Asp) | |
16 | g.3793413G>T | CA394562326 | CREBBP | c.1189C>A (p.His397Asn) c.1135C>A (p.His379Asn) c.436C>A (p.His146Asn) | |
16 | g.3793414C>A | CA7870502 | CREBBP | c.1188G>T (p.Thr396=) c.1134G>T (p.Thr378=) c.435G>T (p.Thr145=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.3793414C= | CA2202954944 | CREBBP | c.1188G= (p.Thr396=) c.1134G= (p.Thr378=) c.435G= (p.Thr145=) | |
16 | g.3793414C>G | CA493394663 | CREBBP | c.1188G>C (p.Thr396=) c.1134G>C (p.Thr378=) c.435G>C (p.Thr145=) | |
16 | g.3793414C>T | CA276986521 | CREBBP | c.1188G>A (p.Thr396=) c.1134G>A (p.Thr378=) c.435G>A (p.Thr145=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3793415G>A | CA394562341 | CREBBP | c.1187C>T (p.Thr396Met) c.1133C>T (p.Thr378Met) c.434C>T (p.Thr145Met) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
16 | g.3793415G>C | CA394562344 | CREBBP | c.1187C>G (p.Thr396Arg) c.1133C>G (p.Thr378Arg) c.434C>G (p.Thr145Arg) | COSMIC |
16 | g.3793415G= | CA2202954950 | CREBBP | c.1187C= (p.Thr396=) c.1133C= (p.Thr378=) c.434C= (p.Thr145=) | |
16 | g.3793415G>T | CA394562345 | CREBBP | c.1187C>A (p.Thr396Lys) c.1133C>A (p.Thr378Lys) c.434C>A (p.Thr145Lys) | |
16 | g.3793416T>A | CA394562346 | CREBBP | c.1186A>T (p.Thr396Ser) c.1132A>T (p.Thr378Ser) c.433A>T (p.Thr145Ser) | |
16 | g.3793416T>C | CA394562348 | CREBBP | c.1186A>G (p.Thr396Ala) c.1132A>G (p.Thr378Ala) c.433A>G (p.Thr145Ala) | |
16 | g.3793416T>G | CA394562349 | CREBBP | c.1186A>C (p.Thr396Pro) c.1132A>C (p.Thr378Pro) c.433A>C (p.Thr145Pro) | |
16 | g.3793417C>A | CA394562354 | CREBBP | c.1185G>T (p.Met395Ile) c.1131G>T (p.Met377Ile) c.432G>T (p.Met144Ile) | |
16 | g.3793417C>G | CA394562358 | CREBBP | c.1185G>C (p.Met395Ile) c.1131G>C (p.Met377Ile) c.432G>C (p.Met144Ile) | |
16 | g.3793417C>T | CA394562361 | CREBBP | c.1185G>A (p.Met395Ile) c.1131G>A (p.Met377Ile) c.432G>A (p.Met144Ile) | |
16 | g.3793418A>C | CA394562364 | CREBBP | c.1184T>G (p.Met395Arg) c.1130T>G (p.Met377Arg) c.431T>G (p.Met144Arg) | |
16 | g.3793418A>G | CA394562366 | CREBBP | c.1184T>C (p.Met395Thr) c.1130T>C (p.Met377Thr) c.431T>C (p.Met144Thr) | |
16 | g.3793418A>T | CA394562369 | CREBBP | c.1184T>A (p.Met395Lys) c.1130T>A (p.Met377Lys) c.431T>A (p.Met144Lys) | COSMIC |
16 | g.3793418_3793435del | CA645596807 | CREBBP | c.1167_1184del (p.Asn390_Met395del) c.1113_1130del (p.Asn372_Met377del) c.414_431del (p.Asn139_Met144del) | COSMIC |
16 | g.3793419T>A | CA394562380 | CREBBP | c.1183A>T (p.Met395Leu) c.1129A>T (p.Met377Leu) c.430A>T (p.Met144Leu) | |
16 | g.3793419T>C | CA394562377 | CREBBP | c.1183A>G (p.Met395Val) c.1129A>G (p.Met377Val) c.430A>G (p.Met144Val) | dbSNP gnomAD v4 |
16 | g.3793419T>G | CA394562374 | CREBBP | c.1183A>C (p.Met395Leu) c.1129A>C (p.Met377Leu) c.430A>C (p.Met144Leu) | |
16 | g.3793419T= | CA2202954954 | CREBBP | c.1183A= (p.Met395=) c.1129A= (p.Met377=) c.430A= (p.Met144=) | |
16 | g.3793420G>A | CA493394664 | CREBBP | c.1182C>T (p.His394=) c.1128C>T (p.His376=) c.429C>T (p.His143=) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.3793420G>C | CA394562383 | CREBBP | c.1182C>G (p.His394Gln) c.1128C>G (p.His376Gln) c.429C>G (p.His143Gln) | |
16 | g.3793420G= | CA2202954957 | CREBBP | c.1182C= (p.His394=) c.1128C= (p.His376=) c.429C= (p.His143=) | |
16 | g.3793420G>T | CA394562386 | CREBBP | c.1182C>A (p.His394Gln) c.1128C>A (p.His376Gln) c.429C>A (p.His143Gln) | |
16 | g.3793421T>A | CA394562389 | CREBBP | c.1181A>T (p.His394Leu) c.1127A>T (p.His376Leu) c.428A>T (p.His143Leu) | |
16 | g.3793421T>C | CA394562391 | CREBBP | c.1181A>G (p.His394Arg) c.1127A>G (p.His376Arg) c.428A>G (p.His143Arg) | |
16 | g.3793421T>G | CA394562393 | CREBBP | c.1181A>C (p.His394Pro) c.1127A>C (p.His376Pro) c.428A>C (p.His143Pro) | |
16 | g.3793422G>A | CA394562409 | CREBBP | c.1180C>T (p.His394Tyr) c.1126C>T (p.His376Tyr) c.427C>T (p.His143Tyr) | |
16 | g.3793422G>C | CA394562411 | CREBBP | c.1180C>G (p.His394Asp) c.1126C>G (p.His376Asp) c.427C>G (p.His143Asp) | |
16 | g.3793422G>T | CA394562414 | CREBBP | c.1180C>A (p.His394Asn) c.1126C>A (p.His376Asn) c.427C>A (p.His143Asn) | |
16 | g.3793423A>C | CA394562420 | CREBBP | c.1179T>G (p.Asn393Lys) c.1125T>G (p.Asn375Lys) c.426T>G (p.Asn142Lys) | |
16 | g.3793423A>G | CA493394665 | CREBBP | c.1179T>C (p.Asn393=) c.1125T>C (p.Asn375=) c.426T>C (p.Asn142=) | |
16 | g.3793423A>T | CA394562422 | CREBBP | c.1179T>A (p.Asn393Lys) c.1125T>A (p.Asn375Lys) c.426T>A (p.Asn142Lys) | |
16 | g.3793424T>A | CA394562426 | CREBBP | c.1178A>T (p.Asn393Ile) c.1124A>T (p.Asn375Ile) c.425A>T (p.Asn142Ile) | |
16 | g.3793424T>C | CA394562429 | CREBBP | c.1178A>G (p.Asn393Ser) c.1124A>G (p.Asn375Ser) c.425A>G (p.Asn142Ser) | |
16 | g.3793424T>G | CA394562431 | CREBBP | c.1178A>C (p.Asn393Thr) c.1124A>C (p.Asn375Thr) c.425A>C (p.Asn142Thr) | |
16 | g.3793425T>A | CA394562435 | CREBBP | c.1177A>T (p.Asn393Tyr) c.1123A>T (p.Asn375Tyr) c.424A>T (p.Asn142Tyr) | |
16 | g.3793425T>C | CA394562436 | CREBBP | c.1177A>G (p.Asn393Asp) c.1123A>G (p.Asn375Asp) c.424A>G (p.Asn142Asp) | |
16 | g.3793425T>G | CA394562434 | CREBBP | c.1177A>C (p.Asn393His) c.1123A>C (p.Asn375His) c.424A>C (p.Asn142His) | |
16 | g.3793426C>A | CA394562439 | CREBBP | c.1176G>T (p.Leu392Phe) c.1122G>T (p.Leu374Phe) c.423G>T (p.Leu141Phe) | |
16 | g.3793426C>G | CA394562442 | CREBBP | c.1176G>C (p.Leu392Phe) c.1122G>C (p.Leu374Phe) c.423G>C (p.Leu141Phe) | |
16 | g.3793426C>T | CA493394666 | CREBBP | c.1176G>A (p.Leu392=) c.1122G>A (p.Leu374=) c.423G>A (p.Leu141=) | |
16 | g.3793427A>C | CA394562443 | CREBBP | c.1175T>G (p.Leu392Trp) c.1121T>G (p.Leu374Trp) c.422T>G (p.Leu141Trp) | |
16 | g.3793427A>G | CA394562446 | CREBBP | c.1175T>C (p.Leu392Ser) c.1121T>C (p.Leu374Ser) c.422T>C (p.Leu141Ser) | |
16 | g.3793427A>T | CA394562449 | CREBBP | c.1175T>A (p.Leu392Ter) c.1121T>A (p.Leu374Ter) c.422T>A (p.Leu141Ter) | |
16 | g.3793428A>C | CA394562452 | CREBBP | c.1174T>G (p.Leu392Val) c.1120T>G (p.Leu374Val) c.421T>G (p.Leu141Val) | |
16 | g.3793428A>G | CA493394667 | CREBBP | c.1174T>C (p.Leu392=) c.1120T>C (p.Leu374=) c.421T>C (p.Leu141=) | |
16 | g.3793428A>T | CA394562456 | CREBBP | c.1174T>A (p.Leu392Met) c.1120T>A (p.Leu374Met) c.421T>A (p.Leu141Met) | |
16 | g.3793429A>C | CA493394670 | CREBBP | c.1173T>G (p.Val391=) c.1119T>G (p.Val373=) c.420T>G (p.Val140=) | |
16 | g.3793429A>G | CA493394668 | CREBBP | c.1173T>C (p.Val391=) c.1119T>C (p.Val373=) c.420T>C (p.Val140=) | |
16 | g.3793429A>T | CA493394669 | CREBBP | c.1173T>A (p.Val391=) c.1119T>A (p.Val373=) c.420T>A (p.Val140=) | |
16 | g.3793430A>C | CA394562461 | CREBBP | c.1172T>G (p.Val391Gly) c.1118T>G (p.Val373Gly) c.419T>G (p.Val140Gly) | |
16 | g.3793430A>G | CA394562464 | CREBBP | c.1172T>C (p.Val391Ala) c.1118T>C (p.Val373Ala) c.419T>C (p.Val140Ala) | gnomAD v4 |
16 | g.3793430A>T | CA394562467 | CREBBP | c.1172T>A (p.Val391Asp) c.1118T>A (p.Val373Asp) c.419T>A (p.Val140Asp) | |
16 | g.3793431C>A | CA394562469 | CREBBP | c.1171G>T (p.Val391Phe) c.1117G>T (p.Val373Phe) c.418G>T (p.Val140Phe) | |
16 | g.3793431C= | CA2202954960 | CREBBP | c.1171G= (p.Val391=) c.1117G= (p.Val373=) c.418G= (p.Val140=) | |
16 | g.3793431C>G | CA394562473 | CREBBP | c.1171G>C (p.Val391Leu) c.1117G>C (p.Val373Leu) c.418G>C (p.Val140Leu) | |
16 | g.3793431C>T | CA276986535 | CREBBP | c.1171G>A (p.Val391Ile) c.1117G>A (p.Val373Ile) c.418G>A (p.Val140Ile) | dbSNP gnomAD v4 COSMIC |
16 | g.3793432G>A | CA276986550 | CREBBP | c.1170C>T (p.Asn390=) c.1116C>T (p.Asn372=) c.417C>T (p.Asn139=) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
16 | g.3793432G>C | CA394562479 | CREBBP | c.1170C>G (p.Asn390Lys) c.1116C>G (p.Asn372Lys) c.417C>G (p.Asn139Lys) | dbSNP COSMIC |
16 | g.3793432G= | CA2202954965 | CREBBP | c.1170C= (p.Asn390=) c.1116C= (p.Asn372=) c.417C= (p.Asn139=) | |
16 | g.3793432G>T | CA394562482 | CREBBP | c.1170C>A (p.Asn390Lys) c.1116C>A (p.Asn372Lys) c.417C>A (p.Asn139Lys) | |
16 | g.3793433T>A | CA394562492 | CREBBP | c.1169A>T (p.Asn390Ile) c.1115A>T (p.Asn372Ile) c.416A>T (p.Asn139Ile) | |
16 | g.3793433T>C | CA394562487 | CREBBP | c.1169A>G (p.Asn390Ser) c.1115A>G (p.Asn372Ser) c.416A>G (p.Asn139Ser) | |
16 | g.3793433T>G | CA394562489 | CREBBP | c.1169A>C (p.Asn390Thr) c.1115A>C (p.Asn372Thr) c.416A>C (p.Asn139Thr) | |
16 | g.3793434T>A | CA394562494 | CREBBP | c.1168A>T (p.Asn390Tyr) c.1114A>T (p.Asn372Tyr) c.415A>T (p.Asn139Tyr) | dbSNP gnomAD v4 |
16 | g.3793434T>C | CA394562499 | CREBBP | c.1168A>G (p.Asn390Asp) c.1114A>G (p.Asn372Asp) c.415A>G (p.Asn139Asp) | dbSNP |
16 | g.3793434T>G | CA394562502 | CREBBP | c.1168A>C (p.Asn390His) c.1114A>C (p.Asn372His) c.415A>C (p.Asn139His) | |
16 | g.3793435T>A | CA394562505 | CREBBP | c.1167A>T (p.Lys389Asn) c.1113A>T (p.Lys371Asn) c.414A>T (p.Lys138Asn) | |
16 | g.3793435T>C | CA493394671 | CREBBP | c.1167A>G (p.Lys389=) c.1113A>G (p.Lys371=) c.414A>G (p.Lys138=) | gnomAD v4 |
16 | g.3793435T>G | CA394562508 | CREBBP | c.1167A>C (p.Lys389Asn) c.1113A>C (p.Lys371Asn) c.414A>C (p.Lys138Asn) | |
16 | g.3793436T>A | CA394562512 | CREBBP | c.1166A>T (p.Lys389Ile) c.1112A>T (p.Lys371Ile) c.413A>T (p.Lys138Ile) | |
16 | g.3793436T>C | CA7870503 | CREBBP | c.1166A>G (p.Lys389Arg) c.1112A>G (p.Lys371Arg) c.413A>G (p.Lys138Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.3793436T>G | CA394562520 | CREBBP | c.1166A>C (p.Lys389Thr) c.1112A>C (p.Lys371Thr) c.413A>C (p.Lys138Thr) | |
16 | g.3793436T= | CA2202954969 | CREBBP | c.1166A= (p.Lys389=) c.1112A= (p.Lys371=) c.413A= (p.Lys138=) | |
16 | g.3793437T>A | CA394562524 | CREBBP | c.1165A>T (p.Lys389Ter) c.1111A>T (p.Lys371Ter) c.412A>T (p.Lys138Ter) | |
16 | g.3793437T>C | CA394562538 | CREBBP | c.1165A>G (p.Lys389Glu) c.1111A>G (p.Lys371Glu) c.412A>G (p.Lys138Glu) | |
16 | g.3793437T>G | CA394562542 | CREBBP | c.1165A>C (p.Lys389Gln) c.1111A>C (p.Lys371Gln) c.412A>C (p.Lys138Gln) | |
16 | g.3793438C>A | CA394562555 | CREBBP | c.1164G>T (p.Met388Ile) c.1110G>T (p.Met370Ile) c.411G>T (p.Met137Ile) | |
16 | g.3793438C>G | CA394562551 | CREBBP | c.1164G>C (p.Met388Ile) c.1110G>C (p.Met370Ile) c.411G>C (p.Met137Ile) | |
16 | g.3793438C>T | CA394562547 | CREBBP | c.1164G>A (p.Met388Ile) c.1110G>A (p.Met370Ile) c.411G>A (p.Met137Ile) | dbSNP |
16 | g.3793439A>C | CA394562563 | CREBBP | c.1163T>G (p.Met388Arg) c.1109T>G (p.Met370Arg) c.410T>G (p.Met137Arg) | |
16 | g.3793439A>G | CA394562566 | CREBBP | c.1163T>C (p.Met388Thr) c.1109T>C (p.Met370Thr) c.410T>C (p.Met137Thr) | |
16 | g.3793439A>T | CA394562569 | CREBBP | c.1163T>A (p.Met388Lys) c.1109T>A (p.Met370Lys) c.410T>A (p.Met137Lys) | |
16 | g.3793440T>A | CA394562577 | CREBBP | c.1162A>T (p.Met388Leu) c.1108A>T (p.Met370Leu) c.409A>T (p.Met137Leu) | |
16 | g.3793440T>C | CA394562580 | CREBBP | c.1162A>G (p.Met388Val) c.1108A>G (p.Met370Val) c.409A>G (p.Met137Val) | ClinVar |
16 | g.3793440T>G | CA394562581 | CREBBP | c.1162A>C (p.Met388Leu) c.1108A>C (p.Met370Leu) c.409A>C (p.Met137Leu) | |
16 | g.3793441G>A | CA493394672 | CREBBP | c.1161C>T (p.Thr387=) c.1107C>T (p.Thr369=) c.408C>T (p.Thr136=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.3793441G>C | CA493394673 | CREBBP | c.1161C>G (p.Thr387=) c.1107C>G (p.Thr369=) c.408C>G (p.Thr136=) | |
16 | g.3793441G= | CA2202954971 | CREBBP | c.1161C= (p.Thr387=) c.1107C= (p.Thr369=) c.408C= (p.Thr136=) | |
16 | g.3793441G>T | CA493394674 | CREBBP | c.1161C>A (p.Thr387=) c.1107C>A (p.Thr369=) c.408C>A (p.Thr136=) | |
16 | g.3793442G>A | CA394562583 | CREBBP | c.1160C>T (p.Thr387Ile) c.1106C>T (p.Thr369Ile) c.407C>T (p.Thr136Ile) | |
16 | g.3793442G>C | CA394562585 | CREBBP | c.1160C>G (p.Thr387Ser) c.1106C>G (p.Thr369Ser) c.407C>G (p.Thr136Ser) | dbSNP |
16 | g.3793442G>T | CA394562589 | CREBBP | c.1160C>A (p.Thr387Asn) c.1106C>A (p.Thr369Asn) c.407C>A (p.Thr136Asn) | |
16 | g.3793443T>A | CA394562590 | CREBBP | c.1159A>T (p.Thr387Ser) c.1105A>T (p.Thr369Ser) c.406A>T (p.Thr136Ser) | |
16 | g.3793443T>C | CA394562591 | CREBBP | c.1159A>G (p.Thr387Ala) c.1105A>G (p.Thr369Ala) c.406A>G (p.Thr136Ala) | |
16 | g.3793443T>G | CA394562594 | CREBBP | c.1159A>C (p.Thr387Pro) c.1105A>C (p.Thr369Pro) c.406A>C (p.Thr136Pro) | |
16 | g.3793444T>A | CA493394675 | CREBBP | c.1158A>T (p.Arg386=) c.1104A>T (p.Arg368=) c.405A>T (p.Arg135=) | dbSNP |
16 | g.3793444T>C | CA493394676 | CREBBP | c.1158A>G (p.Arg386=) c.1104A>G (p.Arg368=) c.405A>G (p.Arg135=) | gnomAD v4 |
16 | g.3793444T>G | CA493394677 | CREBBP | c.1158A>C (p.Arg386=) c.1104A>C (p.Arg368=) c.405A>C (p.Arg135=) | |
16 | g.3793445C>A | CA394562601 | CREBBP | c.1157G>T (p.Arg386Leu) c.1103G>T (p.Arg368Leu) c.404G>T (p.Arg135Leu) | |
16 | g.3793445C= | CA2202954974 | CREBBP | c.1157G= (p.Arg386=) c.1103G= (p.Arg368=) c.404G= (p.Arg135=) | |
16 | g.3793445C>G | CA394562599 | CREBBP | c.1157G>C (p.Arg386Pro) c.1103G>C (p.Arg368Pro) c.404G>C (p.Arg135Pro) | |
16 | g.3793445C>T | CA7870504 | CREBBP | c.1157G>A (p.Arg386Gln) c.1103G>A (p.Arg368Gln) c.404G>A (p.Arg135Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3793447_3793454dup | CA645596808 | CREBBP | c.1150_1157dup (p.Thr387IlefsTer5) c.1096_1103dup (p.Thr369IlefsTer5) c.397_404dup (p.Thr136IlefsTer5) | COSMIC |
16 | g.3793446G>A | CA271358 | CREBBP | c.1156C>T (p.Arg386Ter) c.1102C>T (p.Arg368Ter) c.403C>T (p.Arg135Ter) | ClinVar dbSNP |
16 | g.3793446G>C | CA394562605 | CREBBP | c.1156C>G (p.Arg386Gly) c.1102C>G (p.Arg368Gly) c.403C>G (p.Arg135Gly) | gnomAD v4 |
16 | g.3793446G= | CA2202954978 | CREBBP | c.1156C= (p.Arg386=) c.1102C= (p.Arg368=) c.403C= (p.Arg135=) | |
16 | g.3793446G>T | CA493394678 | CREBBP | c.1156C>A (p.Arg386=) c.1102C>A (p.Arg368=) c.403C>A (p.Arg135=) | |
16 | g.3793447A>C | CA394562611 | CREBBP | c.1155T>G (p.Cys385Trp) c.1101T>G (p.Cys367Trp) c.402T>G (p.Cys134Trp) | |
16 | g.3793447A>G | CA493394679 | CREBBP | c.1155T>C (p.Cys385=) c.1101T>C (p.Cys367=) c.402T>C (p.Cys134=) | ClinVar dbSNP gnomAD v4 |
16 | g.3793447A>T | CA394562613 | CREBBP | c.1155T>A (p.Cys385Ter) c.1101T>A (p.Cys367Ter) c.402T>A (p.Cys134Ter) | |
16 | g.3793448C>A | CA394562619 | CREBBP | c.1154G>T (p.Cys385Phe) c.1100G>T (p.Cys367Phe) c.401G>T (p.Cys134Phe) | |
16 | g.3793448C>G | CA394562621 | CREBBP | c.1154G>C (p.Cys385Ser) c.1100G>C (p.Cys367Ser) c.401G>C (p.Cys134Ser) | |
16 | g.3793448C>T | CA394562625 | CREBBP | c.1154G>A (p.Cys385Tyr) c.1100G>A (p.Cys367Tyr) c.401G>A (p.Cys134Tyr) | dbSNP |