| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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) |