Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 |
16 | g.3793449A>C | CA394562630 | CREBBP | c.1153T>G (p.Cys385Gly) c.1099T>G (p.Cys367Gly) c.400T>G (p.Cys134Gly) | |
16 | g.3793449A>G | CA394562634 | CREBBP | c.1153T>C (p.Cys385Arg) c.1099T>C (p.Cys367Arg) c.400T>C (p.Cys134Arg) | |
16 | g.3793449A>T | CA394562640 | CREBBP | c.1153T>A (p.Cys385Ser) c.1099T>A (p.Cys367Ser) c.400T>A (p.Cys134Ser) | |
16 | g.3793450A= | CA2202954983 | CREBBP | c.1152T= (p.His384=) c.1098T= (p.His366=) c.399T= (p.His133=) | |
16 | g.3793450A>C | CA394562645 | CREBBP | c.1152T>G (p.His384Gln) c.1098T>G (p.His366Gln) c.399T>G (p.His133Gln) | |
16 | g.3793450A>G | CA493394680 | CREBBP | c.1152T>C (p.His384=) c.1098T>C (p.His366=) c.399T>C (p.His133=) | dbSNP |
16 | g.3793450A>T | CA394562648 | CREBBP | c.1152T>A (p.His384Gln) c.1098T>A (p.His366Gln) c.399T>A (p.His133Gln) | |
16 | g.3793451T>A | CA394562653 | CREBBP | c.1151A>T (p.His384Leu) c.1097A>T (p.His366Leu) c.398A>T (p.His133Leu) | |
16 | g.3793451T>C | CA394562658 | CREBBP | c.1151A>G (p.His384Arg) c.1097A>G (p.His366Arg) c.398A>G (p.His133Arg) | gnomAD v4 |
16 | g.3793451T>G | CA394562656 | CREBBP | c.1151A>C (p.His384Pro) c.1097A>C (p.His366Pro) c.398A>C (p.His133Pro) | |
16 | g.3793452G>A | CA394562661 | CREBBP | c.1150C>T (p.His384Tyr) c.1096C>T (p.His366Tyr) c.397C>T (p.His133Tyr) | |
16 | g.3793452G>C | CA394562668 | CREBBP | c.1150C>G (p.His384Asp) c.1096C>G (p.His366Asp) c.397C>G (p.His133Asp) | |
16 | g.3793452G>T | CA394562663 | CREBBP | c.1150C>A (p.His384Asn) c.1096C>A (p.His366Asn) c.397C>A (p.His133Asn) | |
16 | g.3793453C>A | CA493394681 | CREBBP | c.1149G>T (p.Pro383=) c.1095G>T (p.Pro365=) c.396G>T (p.Pro132=) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.3793453C= | CA2202954985 | CREBBP | c.1149G= (p.Pro383=) c.1095G= (p.Pro365=) c.396G= (p.Pro132=) | |
16 | g.3793453C>G | CA493394682 | CREBBP | c.1149G>C (p.Pro383=) c.1095G>C (p.Pro365=) c.396G>C (p.Pro132=) | |
16 | g.3793453C>T | CA148108 | CREBBP | c.1149G>A (p.Pro383=) c.1095G>A (p.Pro365=) c.396G>A (p.Pro132=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3793454G>A | CA394562704 | CREBBP | c.1148C>T (p.Pro383Leu) c.1094C>T (p.Pro365Leu) c.395C>T (p.Pro132Leu) | ClinVar dbSNP gnomAD v4 COSMIC |
16 | g.3793454G>C | CA394562708 | CREBBP | c.1148C>G (p.Pro383Arg) c.1094C>G (p.Pro365Arg) c.395C>G (p.Pro132Arg) | gnomAD v4 COSMIC |
16 | g.3793454G= | CA2202954989 | CREBBP | c.1148C= (p.Pro383=) c.1094C= (p.Pro365=) c.395C= (p.Pro132=) | |
16 | g.3793454G>T | CA394562712 | CREBBP | c.1148C>A (p.Pro383Gln) c.1094C>A (p.Pro365Gln) c.395C>A (p.Pro132Gln) | dbSNP |
16 | g.3793455G>A | CA394562716 | CREBBP | c.1147C>T (p.Pro383Ser) c.1093C>T (p.Pro365Ser) c.394C>T (p.Pro132Ser) | dbSNP |
16 | g.3793455G>C | CA394562717 | CREBBP | c.1147C>G (p.Pro383Ala) c.1093C>G (p.Pro365Ala) c.394C>G (p.Pro132Ala) | |
16 | g.3793455G>T | CA394562718 | CREBBP | c.1147C>A (p.Pro383Thr) c.1093C>A (p.Pro365Thr) c.394C>A (p.Pro132Thr) | |
16 | g.3793456G>A | CA493394683 | CREBBP | c.1146C>T (p.Leu382=) c.1092C>T (p.Leu364=) c.393C>T (p.Leu131=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.3793456G>C | CA493394684 | CREBBP | c.1146C>G (p.Leu382=) c.1092C>G (p.Leu364=) c.393C>G (p.Leu131=) | dbSNP gnomAD v4 |
16 | g.3793456G= | CA2202954991 | CREBBP | c.1146C= (p.Leu382=) c.1092C= (p.Leu364=) c.393C= (p.Leu131=) | |
16 | g.3793456G>T | CA493394685 | CREBBP | c.1146C>A (p.Leu382=) c.1092C>A (p.Leu364=) c.393C>A (p.Leu131=) | |
16 | g.3793457A>C | CA394562721 | CREBBP | c.1145T>G (p.Leu382Arg) c.1091T>G (p.Leu364Arg) c.392T>G (p.Leu131Arg) | |
16 | g.3793457A>G | CA394562724 | CREBBP | c.1145T>C (p.Leu382Pro) c.1091T>C (p.Leu364Pro) c.392T>C (p.Leu131Pro) | ClinVar dbSNP |
16 | g.3793457A>T | CA394562727 | CREBBP | c.1145T>A (p.Leu382His) c.1091T>A (p.Leu364His) c.392T>A (p.Leu131His) | |
16 | g.3793458G>A | CA394562729 | CREBBP | c.1144C>T (p.Leu382Phe) c.1090C>T (p.Leu364Phe) c.391C>T (p.Leu131Phe) | dbSNP |
16 | g.3793458G>C | CA394562732 | CREBBP | c.1144C>G (p.Leu382Val) c.1090C>G (p.Leu364Val) c.391C>G (p.Leu131Val) | ClinVar dbSNP gnomAD v4 |
16 | g.3793458G= | CA2202954996 | CREBBP | c.1144C= (p.Leu382=) c.1090C= (p.Leu364=) c.391C= (p.Leu131=) | |
16 | g.3793458G>T | CA394562752 | CREBBP | c.1144C>A (p.Leu382Ile) c.1090C>A (p.Leu364Ile) c.391C>A (p.Leu131Ile) | |
16 | g.3793459C>A | CA493394686 | CREBBP | c.1143G>T (p.Ser381=) c.1089G>T (p.Ser363=) c.390G>T (p.Ser130=) | dbSNP |
16 | g.3793459C= | CA2202954999 | CREBBP | c.1143G= (p.Ser381=) c.1089G= (p.Ser363=) c.390G= (p.Ser130=) | |
16 | g.3793459C>G | CA493394687 | CREBBP | c.1143G>C (p.Ser381=) c.1089G>C (p.Ser363=) c.390G>C (p.Ser130=) | |
16 | g.3793459C>T | CA7870505 | CREBBP | c.1143G>A (p.Ser381=) c.1089G>A (p.Ser363=) c.390G>A (p.Ser130=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |