| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.3792041G>A | CA271362 | CREBBP | c.1270C>T (p.Arg424Ter) c.1216+1345C>T (n.1216+1345C>T) c.1216C>T (p.Arg406Ter) c.517C>T (p.Arg173Ter) | ClinVar dbSNP |
| 16 | g.3792041G>C | CA394560709 | CREBBP | c.1270C>G (p.Arg424Gly) c.1216+1345C>G (n.1216+1345C>G) c.1216C>G (p.Arg406Gly) c.517C>G (p.Arg173Gly) | |
| 16 | g.3792041G= | CA2202953675 | CREBBP | c.1270C= (p.Arg424=) c.1216+1345C= (n.1216+1345C=) c.1216C= (p.Arg406=) c.517C= (p.Arg173=) | |
| 16 | g.3792041G>T | CA493277084 | CREBBP | c.1270C>A (p.Arg424=) c.1216+1345C>A (n.1216+1345C>A) c.1216C>A (p.Arg406=) c.517C>A (p.Arg173=) | |
| 16 | g.3792042T>A | CA276985189 | CREBBP | c.1269A>T (p.Thr423=) c.1216+1344A>T (n.1216+1344A>T) c.1215A>T (p.Thr405=) c.516A>T (p.Thr172=) | dbSNP gnomAD v4 |
| 16 | g.3792042T>C | CA493277085 | CREBBP | c.1269A>G (p.Thr423=) c.1216+1344A>G (n.1216+1344A>G) c.1215A>G (p.Thr405=) c.516A>G (p.Thr172=) | gnomAD v4 |
| 16 | g.3792042T>G | CA493277086 | CREBBP | c.1269A>C (p.Thr423=) c.1216+1344A>C (n.1216+1344A>C) c.1215A>C (p.Thr405=) c.516A>C (p.Thr172=) | |
| 16 | g.3792042T= | CA2202953679 | CREBBP | c.1269A= (p.Thr423=) c.1216+1344A= (n.1216+1344A=) c.1215A= (p.Thr405=) c.516A= (p.Thr172=) | |
| 16 | g.3792043G>A | CA394560711 | CREBBP | c.1268C>T (p.Thr423Ile) c.1216+1343C>T (n.1216+1343C>T) c.1214C>T (p.Thr405Ile) c.515C>T (p.Thr172Ile) | dbSNP |
| 16 | g.3792043G>C | CA394560715 | CREBBP | c.1268C>G (p.Thr423Arg) c.1216+1343C>G (n.1216+1343C>G) c.1214C>G (p.Thr405Arg) c.515C>G (p.Thr172Arg) | |
| 16 | g.3792043G= | CA2202953683 | CREBBP | c.1268C= (p.Thr423=) c.1216+1343C= (n.1216+1343C=) c.1214C= (p.Thr405=) c.515C= (p.Thr172=) | |
| 16 | g.3792043G>T | CA394560713 | CREBBP | c.1268C>A (p.Thr423Lys) c.1216+1343C>A (n.1216+1343C>A) c.1214C>A (p.Thr405Lys) c.515C>A (p.Thr172Lys) | |
| 16 | g.3792044T>A | CA394560718 | CREBBP | c.1267A>T (p.Thr423Ser) c.1216+1342A>T (n.1216+1342A>T) c.1213A>T (p.Thr405Ser) c.514A>T (p.Thr172Ser) | |
| 16 | g.3792044T>C | CA394560723 | CREBBP | c.1267A>G (p.Thr423Ala) c.1216+1342A>G (n.1216+1342A>G) c.1213A>G (p.Thr405Ala) c.514A>G (p.Thr172Ala) | dbSNP |
| 16 | g.3792044T>G | CA394560721 | CREBBP | c.1267A>C (p.Thr423Pro) c.1216+1342A>C (n.1216+1342A>C) c.1213A>C (p.Thr405Pro) c.514A>C (p.Thr172Pro) | |
| 16 | g.3792044T= | CA2202953685 | CREBBP | c.1267A= (p.Thr423=) c.1216+1342A= (n.1216+1342A=) c.1213A= (p.Thr405=) c.514A= (p.Thr172=) | |
| 16 | g.3792045G>A | CA493277087 | CREBBP | c.1266C>T (p.Cys422=) c.1216+1341C>T (n.1216+1341C>T) c.1212C>T (p.Cys404=) c.513C>T (p.Cys171=) | |
| 16 | g.3792045G>C | CA394560725 | CREBBP | c.1266C>G (p.Cys422Trp) c.1216+1341C>G (n.1216+1341C>G) c.1212C>G (p.Cys404Trp) c.513C>G (p.Cys171Trp) | |
| 16 | g.3792045G>T | CA394560727 | CREBBP | c.1266C>A (p.Cys422Ter) c.1216+1341C>A (n.1216+1341C>A) c.1212C>A (p.Cys404Ter) c.513C>A (p.Cys171Ter) | |
| 16 | g.3792046C>A | CA394560729 | CREBBP | c.1265G>T (p.Cys422Phe) c.1216+1340G>T (n.1216+1340G>T) c.1211G>T (p.Cys404Phe) c.512G>T (p.Cys171Phe) | |
| 16 | g.3792046C>G | CA394560731 | CREBBP | c.1265G>C (p.Cys422Ser) c.1216+1340G>C (n.1216+1340G>C) c.1211G>C (p.Cys404Ser) c.512G>C (p.Cys171Ser) | ClinVar |
| 16 | g.3792046C>T | CA394560733 | CREBBP | c.1265G>A (p.Cys422Tyr) c.1216+1340G>A (n.1216+1340G>A) c.1211G>A (p.Cys404Tyr) c.512G>A (p.Cys171Tyr) | |
| 16 | g.3792047A>C | CA394560734 | CREBBP | c.1264T>G (p.Cys422Gly) c.1216+1339T>G (n.1216+1339T>G) c.1210T>G (p.Cys404Gly) c.511T>G (p.Cys171Gly) | |
| 16 | g.3792047A>G | CA394560736 | CREBBP | c.1264T>C (p.Cys422Arg) c.1216+1339T>C (n.1216+1339T>C) c.1210T>C (p.Cys404Arg) c.511T>C (p.Cys171Arg) | |
| 16 | g.3792047A>T | CA394560738 | CREBBP | c.1264T>A (p.Cys422Ser) c.1216+1339T>A (n.1216+1339T>A) c.1210T>A (p.Cys404Ser) c.511T>A (p.Cys171Ser) | |
| 16 | g.3792048G>A | CA493277088 | CREBBP | c.1263C>T (p.Asn421=) c.1216+1338C>T (n.1216+1338C>T) c.1209C>T (p.Asn403=) c.510C>T (p.Asn170=) | dbSNP |
| 16 | g.3792048G>C | CA394560740 | CREBBP | c.1263C>G (p.Asn421Lys) c.1216+1338C>G (n.1216+1338C>G) c.1209C>G (p.Asn403Lys) c.510C>G (p.Asn170Lys) | |
| 16 | g.3792048G>T | CA394560741 | CREBBP | c.1263C>A (p.Asn421Lys) c.1216+1338C>A (n.1216+1338C>A) c.1209C>A (p.Asn403Lys) c.510C>A (p.Asn170Lys) | |
| 16 | g.3792049T>A | CA394560747 | CREBBP | c.1262A>T (p.Asn421Ile) c.1216+1337A>T (n.1216+1337A>T) c.1208A>T (p.Asn403Ile) c.509A>T (p.Asn170Ile) | |
| 16 | g.3792049T>C | CA394560745 | CREBBP | c.1262A>G (p.Asn421Ser) c.1216+1337A>G (n.1216+1337A>G) c.1208A>G (p.Asn403Ser) c.509A>G (p.Asn170Ser) | |
| 16 | g.3792049T>G | CA394560743 | CREBBP | c.1262A>C (p.Asn421Thr) c.1216+1337A>C (n.1216+1337A>C) c.1208A>C (p.Asn403Thr) c.509A>C (p.Asn170Thr) | |
| 16 | g.3792050T>A | CA394560749 | CREBBP | c.1261A>T (p.Asn421Tyr) c.1216+1336A>T (n.1216+1336A>T) c.1207A>T (p.Asn403Tyr) c.508A>T (p.Asn170Tyr) | |
| 16 | g.3792050T>C | CA394560751 | CREBBP | c.1261A>G (p.Asn421Asp) c.1216+1336A>G (n.1216+1336A>G) c.1207A>G (p.Asn403Asp) c.508A>G (p.Asn170Asp) | |
| 16 | g.3792050T>G | CA394560753 | CREBBP | c.1261A>C (p.Asn421His) c.1216+1336A>C (n.1216+1336A>C) c.1207A>C (p.Asn403His) c.508A>C (p.Asn170His) | |
| 16 | g.3792051C>A | CA394560755 | CREBBP | c.1260G>T (p.Lys420Asn) c.1216+1335G>T (n.1216+1335G>T) c.1206G>T (p.Lys402Asn) c.507G>T (p.Lys169Asn) | |
| 16 | g.3792051C>G | CA394560757 | CREBBP | c.1260G>C (p.Lys420Asn) c.1216+1335G>C (n.1216+1335G>C) c.1206G>C (p.Lys402Asn) c.507G>C (p.Lys169Asn) | ClinVar |
| 16 | g.3792051C>T | CA493277091 | CREBBP | c.1260G>A (p.Lys420=) c.1216+1335G>A (n.1216+1335G>A) c.1206G>A (p.Lys402=) c.507G>A (p.Lys169=) | |
| 16 | g.3792052T>A | CA394560760 | CREBBP | c.1259A>T (p.Lys420Met) c.1216+1334A>T (n.1216+1334A>T) c.1205A>T (p.Lys402Met) c.506A>T (p.Lys169Met) | |
| 16 | g.3792052T>C | CA394560762 | CREBBP | c.1259A>G (p.Lys420Arg) c.1216+1334A>G (n.1216+1334A>G) c.1205A>G (p.Lys402Arg) c.506A>G (p.Lys169Arg) | |
| 16 | g.3792052T>G | CA394560763 | CREBBP | c.1259A>C (p.Lys420Thr) c.1216+1334A>C (n.1216+1334A>C) c.1205A>C (p.Lys402Thr) c.506A>C (p.Lys169Thr) | |
| 16 | g.3792053T>A | CA394560765 | CREBBP | c.1258A>T (p.Lys420Ter) c.1216+1333A>T (n.1216+1333A>T) c.1204A>T (p.Lys402Ter) c.505A>T (p.Lys169Ter) | dbSNP COSMIC |
| 16 | g.3792053T>C | CA394560767 | CREBBP | c.1258A>G (p.Lys420Glu) c.1216+1333A>G (n.1216+1333A>G) c.1204A>G (p.Lys402Glu) c.505A>G (p.Lys169Glu) | |
| 16 | g.3792053T>G | CA394560770 | CREBBP | c.1258A>C (p.Lys420Gln) c.1216+1333A>C (n.1216+1333A>C) c.1204A>C (p.Lys402Gln) c.505A>C (p.Lys169Gln) | gnomAD v4 |
| 16 | g.3792054C>A | CA394560773 | CREBBP | c.1257G>T (p.Trp419Cys) c.1216+1332G>T (n.1216+1332G>T) c.1203G>T (p.Trp401Cys) c.504G>T (p.Trp168Cys) | |
| 16 | g.3792054C= | CA2202953688 | CREBBP | c.1257G= (p.Trp419=) c.1216+1332G= (n.1216+1332G=) c.1203G= (p.Trp401=) c.504G= (p.Trp168=) | |
| 16 | g.3792054C>G | CA394560775 | CREBBP | c.1257G>C (p.Trp419Cys) c.1216+1332G>C (n.1216+1332G>C) c.1203G>C (p.Trp401Cys) c.504G>C (p.Trp168Cys) | dbSNP |
| 16 | g.3792054C>T | CA271360 | CREBBP | c.1257G>A (p.Trp419Ter) c.1216+1332G>A (n.1216+1332G>A) c.1203G>A (p.Trp401Ter) c.504G>A (p.Trp168Ter) | ClinVar dbSNP |
| 16 | g.3792055del | CA2695222693 | CREBBP | c.1257del (p.Trp419Ter) c.1216+1332del (n.1216+1332del) c.1203del (p.Trp401Ter) c.504del (p.Trp168Ter) | |
| 16 | g.3792055C>A | CA394560776 | CREBBP | c.1256G>T (p.Trp419Leu) c.1216+1331G>T (n.1216+1331G>T) c.1202G>T (p.Trp401Leu) c.503G>T (p.Trp168Leu) | |
| 16 | g.3792055C>G | CA394560778 | CREBBP | c.1256G>C (p.Trp419Ser) c.1216+1331G>C (n.1216+1331G>C) c.1202G>C (p.Trp401Ser) c.503G>C (p.Trp168Ser) |