UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.3850335C>A | CA394559240 | CREBBP | c.760G>T (p.Ala254Ser) c.706G>T (p.Ala236Ser) | ClinVar |
| 16 | g.3850335C= | CA2202993975 | CREBBP | c.760G= (p.Ala254=) c.706G= (p.Ala236=) | |
| 16 | g.3850335C>G | CA394559239 | CREBBP | c.760G>C (p.Ala254Pro) c.706G>C (p.Ala236Pro) | COSMIC |
| 16 | g.3850335C>T | CA158186 | CREBBP | c.760G>A (p.Ala254Thr) c.706G>A (p.Ala236Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 16 | g.3850336G>A | CA7870616 | CREBBP | c.759C>T (p.His253=) c.705C>T (p.His235=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 16 | g.3850336G>C | CA394559242 | CREBBP | c.759C>G (p.His253Gln) c.705C>G (p.His235Gln) | |
| 16 | g.3850336G= | CA2202993976 | CREBBP | c.759C= (p.His253=) c.705C= (p.His235=) | |
| 16 | g.3850336G>T | CA394559241 | CREBBP | c.759C>A (p.His253Gln) c.705C>A (p.His235Gln) | |
| 16 | g.3850337T>A | CA276986708 | CREBBP | c.758A>T (p.His253Leu) c.704A>T (p.His235Leu) | dbSNP COSMIC |
| 16 | g.3850337T>C | CA394559243 | CREBBP | c.758A>G (p.His253Arg) c.704A>G (p.His235Arg) | ClinVar dbSNP |
| 16 | g.3850337T>G | CA394559244 | CREBBP | c.758A>C (p.His253Pro) c.704A>C (p.His235Pro) | |
| 16 | g.3850337T= | CA2202993977 | CREBBP | c.758A= (p.His253=) c.704A= (p.His235=) | |
| 16 | g.3850338G>A | CA394559245 | CREBBP | c.757C>T (p.His253Tyr) c.703C>T (p.His235Tyr) | dbSNP gnomAD v2 |
| 16 | g.3850338G>C | CA394559246 | CREBBP | c.757C>G (p.His253Asp) c.703C>G (p.His235Asp) | |
| 16 | g.3850338G= | CA2202993978 | CREBBP | c.757C= (p.His253=) c.703C= (p.His235=) | |
| 16 | g.3850338G>T | CA394559247 | CREBBP | c.757C>A (p.His253Asn) c.703C>A (p.His235Asn) | |
| 16 | g.3850339A>C | CA493276451 | CREBBP | c.756T>G (p.Gly252=) c.702T>G (p.Gly234=) | |
| 16 | g.3850339A>G | CA493276452 | CREBBP | c.756T>C (p.Gly252=) c.702T>C (p.Gly234=) | ClinVar |
| 16 | g.3850339A>T | CA493276453 | CREBBP | c.756T>A (p.Gly252=) c.702T>A (p.Gly234=) | dbSNP |
| 16 | g.3850340C>A | CA394559248 | CREBBP | c.755G>T (p.Gly252Val) c.701G>T (p.Gly234Val) | |
| 16 | g.3850340C>G | CA394559249 | CREBBP | c.755G>C (p.Gly252Ala) c.701G>C (p.Gly234Ala) | |
| 16 | g.3850340C>T | CA394559250 | CREBBP | c.755G>A (p.Gly252Asp) c.701G>A (p.Gly234Asp) | |
| 16 | g.3850341C>A | CA394559251 | CREBBP | c.754G>T (p.Gly252Cys) c.700G>T (p.Gly234Cys) | |
| 16 | g.3850341C= | CA2202993979 | CREBBP | c.754G= (p.Gly252=) c.700G= (p.Gly234=) | |
| 16 | g.3850341C>G | CA394559252 | CREBBP | c.754G>C (p.Gly252Arg) c.700G>C (p.Gly234Arg) | |
| 16 | g.3850341C>T | CA394559253 | CREBBP | c.754G>A (p.Gly252Ser) c.700G>A (p.Gly234Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.3850342A= | CA2202993980 | CREBBP | c.753T= (p.Thr251=) c.699T= (p.Thr233=) | |
| 16 | g.3850342A>C | CA148152 | CREBBP | c.753T>G (p.Thr251=) c.699T>G (p.Thr233=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.3850342A>G | CA7870617 | CREBBP | c.753T>C (p.Thr251=) c.699T>C (p.Thr233=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.3850342A>T | CA493276454 | CREBBP | c.753T>A (p.Thr251=) c.699T>A (p.Thr233=) | dbSNP |
| 16 | g.3850343G>A | CA394559255 | CREBBP | c.752C>T (p.Thr251Ile) c.698C>T (p.Thr233Ile) | |
| 16 | g.3850343G>C | CA276986742 | CREBBP | c.752C>G (p.Thr251Ser) c.698C>G (p.Thr233Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.3850343G= | CA2202993981 | CREBBP | c.752C= (p.Thr251=) c.698C= (p.Thr233=) | |
| 16 | g.3850343G>T | CA394559258 | CREBBP | c.752C>A (p.Thr251Asn) c.698C>A (p.Thr233Asn) | |
| 16 | g.3850344T>A | CA394559260 | CREBBP | c.751A>T (p.Thr251Ser) c.697A>T (p.Thr233Ser) | |
| 16 | g.3850344T>C | CA394559262 | CREBBP | c.751A>G (p.Thr251Ala) c.697A>G (p.Thr233Ala) | |
| 16 | g.3850344T>G | CA394559264 | CREBBP | c.751A>C (p.Thr251Pro) c.697A>C (p.Thr233Pro) | gnomAD v4 |
| 16 | g.3850345C>A | CA394559266 | CREBBP | c.750G>T (p.Met250Ile) c.696G>T (p.Met232Ile) | |
| 16 | g.3850345C>G | CA394559268 | CREBBP | c.750G>C (p.Met250Ile) c.696G>C (p.Met232Ile) | dbSNP |
| 16 | g.3850345C>T | CA394559270 | CREBBP | c.750G>A (p.Met250Ile) c.696G>A (p.Met232Ile) | gnomAD v4 |
| 16 | g.3850346A>C | CA394559273 | CREBBP | c.749T>G (p.Met250Arg) c.695T>G (p.Met232Arg) | |
| 16 | g.3850346A>G | CA394559274 | CREBBP | c.749T>C (p.Met250Thr) c.695T>C (p.Met232Thr) | ClinVar gnomAD v4 |
| 16 | g.3850346A>T | CA394559276 | CREBBP | c.749T>A (p.Met250Lys) c.695T>A (p.Met232Lys) | |
| 16 | g.3850347T>A | CA394559278 | CREBBP | c.748A>T (p.Met250Leu) c.694A>T (p.Met232Leu) | |
| 16 | g.3850347T>C | CA394559282 | CREBBP | c.748A>G (p.Met250Val) c.694A>G (p.Met232Val) | dbSNP |
| 16 | g.3850347T>G | CA394559280 | CREBBP | c.748A>C (p.Met250Leu) c.694A>C (p.Met232Leu) | |
| 16 | g.3850347T= | CA2202993982 | CREBBP | c.748A= (p.Met250=) c.694A= (p.Met232=) | |
| 16 | g.3850348T>A | CA394559284 | CREBBP | c.747A>T (p.Gln249His) c.693A>T (p.Gln231His) | |
| 16 | g.3850348T>C | CA493276455 | CREBBP | c.747A>G (p.Gln249=) c.693A>G (p.Gln231=) | |
| 16 | g.3850348T>G | CA394559285 | CREBBP | c.747A>C (p.Gln249His) c.693A>C (p.Gln231His) | dbSNP gnomAD v4 |
| 16 | g.3850348T= | CA2202993983 | CREBBP | c.747A= (p.Gln249=) c.693A= (p.Gln231=) | |
| 16 | g.3850349T>A | CA394559288 | CREBBP | c.746A>T (p.Gln249Leu) c.692A>T (p.Gln231Leu) | |
| 16 | g.3850349T>C | CA394559289 | CREBBP | c.746A>G (p.Gln249Arg) c.692A>G (p.Gln231Arg) | ClinVar dbSNP |
| 16 | g.3850349T>G | CA394559291 | CREBBP | c.746A>C (p.Gln249Pro) c.692A>C (p.Gln231Pro) | |
| 16 | g.3850349T= | CA2202993984 | CREBBP | c.746A= (p.Gln249=) c.692A= (p.Gln231=) | |
| 16 | g.3850350G>A | CA394559293 | CREBBP | c.745C>T (p.Gln249Ter) c.691C>T (p.Gln231Ter) | |
| 16 | g.3850350G>C | CA7870619 | CREBBP | c.745C>G (p.Gln249Glu) c.691C>G (p.Gln231Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.3850350G= | CA2202993985 | CREBBP | c.745C= (p.Gln249=) c.691C= (p.Gln231=) | |
| 16 | g.3850350G>T | CA7870618 | CREBBP | c.745C>A (p.Gln249Lys) c.691C>A (p.Gln231Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.3850351C>A | CA493276456 | CREBBP | c.744G>T (p.Pro248=) c.690G>T (p.Pro230=) | ClinVar dbSNP |
| 16 | g.3850351C= | CA2202993986 | CREBBP | c.744G= (p.Pro248=) c.690G= (p.Pro230=) | |
| 16 | g.3850351C>G | CA493276457 | CREBBP | c.744G>C (p.Pro248=) c.690G>C (p.Pro230=) | |
| 16 | g.3850351C>T | CA7870620 | CREBBP | c.744G>A (p.Pro248=) c.690G>A (p.Pro230=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.3850352G>A | CA7870621 | CREBBP | c.743C>T (p.Pro248Leu) c.689C>T (p.Pro230Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.3850352G>C | CA394559296 | CREBBP | c.743C>G (p.Pro248Arg) c.689C>G (p.Pro230Arg) | |
| 16 | g.3850352G= | CA2202993987 | CREBBP | c.743C= (p.Pro248=) c.689C= (p.Pro230=) | |
| 16 | g.3850352G>T | CA394559298 | CREBBP | c.743C>A (p.Pro248Gln) c.689C>A (p.Pro230Gln) | dbSNP gnomAD v4 |
| 16 | g.3850353G>A | CA7870622 | CREBBP | c.742C>T (p.Pro248Ser) c.688C>T (p.Pro230Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.3850353G>C | CA394559300 | CREBBP | c.742C>G (p.Pro248Ala) c.688C>G (p.Pro230Ala) | |
| 16 | g.3850353G= | CA2202993988 | CREBBP | c.742C= (p.Pro248=) c.688C= (p.Pro230=) | |
| 16 | g.3850353G>T | CA394559302 | CREBBP | c.742C>A (p.Pro248Thr) c.688C>A (p.Pro230Thr) | dbSNP |
| 16 | g.3850354G>A | CA493276458 | CREBBP | c.741C>T (p.Ser247=) c.687C>T (p.Ser229=) | dbSNP |
| 16 | g.3850354G>C | CA493276459 | CREBBP | c.741C>G (p.Ser247=) c.687C>G (p.Ser229=) | |
| 16 | g.3850354G>T | CA493276460 | CREBBP | c.741C>A (p.Ser247=) c.687C>A (p.Ser229=) | |
| 16 | g.3850355G>A | CA394559304 | CREBBP | c.740C>T (p.Ser247Phe) c.686C>T (p.Ser229Phe) | dbSNP |
| 16 | g.3850355G>C | CA394559305 | CREBBP | c.740C>G (p.Ser247Cys) c.686C>G (p.Ser229Cys) | |
| 16 | g.3850355G>T | CA394559307 | CREBBP | c.740C>A (p.Ser247Tyr) c.686C>A (p.Ser229Tyr) | |
| 16 | g.3850356A= | CA2202993989 | CREBBP | c.739T= (p.Ser247=) c.685T= (p.Ser229=) | |
| 16 | g.3850356A>C | CA394559309 | CREBBP | c.739T>G (p.Ser247Ala) c.685T>G (p.Ser229Ala) | dbSNP |
| 16 | g.3850356A>G | CA394559311 | CREBBP | c.739T>C (p.Ser247Pro) c.685T>C (p.Ser229Pro) | ClinVar dbSNP |
| 16 | g.3850356A>T | CA394559313 | CREBBP | c.739T>A (p.Ser247Thr) c.685T>A (p.Ser229Thr) | |
| 16 | g.3850357A>C | CA493276461 | CREBBP | c.738T>G (p.Val246=) c.684T>G (p.Val228=) | |
| 16 | g.3850357A>G | CA493276462 | CREBBP | c.738T>C (p.Val246=) c.684T>C (p.Val228=) | |
| 16 | g.3850357A>T | CA493276463 | CREBBP | c.738T>A (p.Val246=) c.684T>A (p.Val228=) | |
| 16 | g.3850358A>C | CA394559315 | CREBBP | c.737T>G (p.Val246Gly) c.683T>G (p.Val228Gly) | |
| 16 | g.3850358A>G | CA394559317 | CREBBP | c.737T>C (p.Val246Ala) c.683T>C (p.Val228Ala) | |
| 16 | g.3850358A>T | CA394559318 | CREBBP | c.737T>A (p.Val246Asp) c.683T>A (p.Val228Asp) | |
| 16 | g.3850359C>A | CA394559321 | CREBBP | c.736G>T (p.Val246Phe) c.682G>T (p.Val228Phe) | |
| 16 | g.3850359C= | CA2202993990 | CREBBP | c.736G= (p.Val246=) c.682G= (p.Val228=) | |
| 16 | g.3850359C>G | CA394559322 | CREBBP | c.736G>C (p.Val246Leu) c.682G>C (p.Val228Leu) | dbSNP gnomAD v4 |
| 16 | g.3850359C>T | CA394559324 | CREBBP | c.736G>A (p.Val246Ile) c.682G>A (p.Val228Ile) | |
| 16 | g.3850360C>A | CA394559328 | CREBBP | c.735G>T (p.Gln245His) c.681G>T (p.Gln227His) | |
| 16 | g.3850360C>G | CA394559326 | CREBBP | c.735G>C (p.Gln245His) c.681G>C (p.Gln227His) | |
| 16 | g.3850360C>T | CA493276464 | CREBBP | c.735G>A (p.Gln245=) c.681G>A (p.Gln227=) | gnomAD v4 |
| 16 | g.3850361T>A | CA394559330 | CREBBP | c.734A>T (p.Gln245Leu) c.680A>T (p.Gln227Leu) | |
| 16 | g.3850361T>C | CA394559332 | CREBBP | c.734A>G (p.Gln245Arg) c.680A>G (p.Gln227Arg) | gnomAD v4 |
| 16 | g.3850361T>G | CA394559331 | CREBBP | c.734A>C (p.Gln245Pro) c.680A>C (p.Gln227Pro) | |
| 16 | g.3850362G>A | CA394559335 | CREBBP | c.733C>T (p.Gln245Ter) c.679C>T (p.Gln227Ter) | ClinVar gnomAD v4 |
| 16 | g.3850362G>C | CA394559337 | CREBBP | c.733C>G (p.Gln245Glu) c.679C>G (p.Gln227Glu) | |
| 16 | g.3850362G>T | CA394559339 | CREBBP | c.733C>A (p.Gln245Lys) c.679C>A (p.Gln227Lys) | |
| 16 | g.3850363C>A | CA493276466 | CREBBP | c.732G>T (p.Thr244=) c.678G>T (p.Thr226=) | |
| 16 | g.3850363C= | CA2202993991 | CREBBP | c.732G= (p.Thr244=) c.678G= (p.Thr226=) | |
| 16 | g.3850363C>G | CA493276465 | CREBBP | c.732G>C (p.Thr244=) c.678G>C (p.Thr226=) | |
| 16 | g.3850363C>T | CA7870623 | CREBBP | c.732G>A (p.Thr244=) c.678G>A (p.Thr226=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 16 | g.3850364G>A | CA7870624 | CREBBP | c.731C>T (p.Thr244Met) c.677C>T (p.Thr226Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.3850364G>C | CA394559341 | CREBBP | c.731C>G (p.Thr244Arg) c.677C>G (p.Thr226Arg) | dbSNP |
| 16 | g.3850364G= | CA2202993992 | CREBBP | c.731C= (p.Thr244=) c.677C= (p.Thr226=) | |
| 16 | g.3850364G>T | CA394559343 | CREBBP | c.731C>A (p.Thr244Lys) c.677C>A (p.Thr226Lys) | gnomAD v4 |
| 16 | g.3850365T>A | CA394559345 | CREBBP | c.730A>T (p.Thr244Ser) c.676A>T (p.Thr226Ser) | |
| 16 | g.3850365T>C | CA394559347 | CREBBP | c.730A>G (p.Thr244Ala) c.676A>G (p.Thr226Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.3850365T>G | CA394559349 | CREBBP | c.730A>C (p.Thr244Pro) c.676A>C (p.Thr226Pro) | |
| 16 | g.3850365T= | CA2202993993 | CREBBP | c.730A= (p.Thr244=) c.676A= (p.Thr226=) | |
| 16 | g.3850366T>A | CA493276469 | CREBBP | c.729A>T (p.Leu243=) c.675A>T (p.Leu225=) | |
| 16 | g.3850366T>C | CA493276468 | CREBBP | c.729A>G (p.Leu243=) c.675A>G (p.Leu225=) | |
| 16 | g.3850366T>G | CA493276467 | CREBBP | c.729A>C (p.Leu243=) c.675A>C (p.Leu225=) | |
| 16 | g.3850367A= | CA2202993994 | CREBBP | c.728T= (p.Leu243=) c.674T= (p.Leu225=) | |
| 16 | g.3850367A>C | CA394559350 | CREBBP | c.728T>G (p.Leu243Arg) c.674T>G (p.Leu225Arg) | |
| 16 | g.3850367A>G | CA394559352 | CREBBP | c.728T>C (p.Leu243Pro) c.674T>C (p.Leu225Pro) | dbSNP gnomAD v4 |
| 16 | g.3850367A>T | CA394559353 | CREBBP | c.728T>A (p.Leu243Gln) c.674T>A (p.Leu225Gln) | |
| 16 | g.3850368G>A | CA7870625 | CREBBP | c.727C>T (p.Leu243=) c.673C>T (p.Leu225=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.3850368G>C | CA394559356 | CREBBP | c.727C>G (p.Leu243Val) c.673C>G (p.Leu225Val) | |
| 16 | g.3850368G= | CA2202993995 | CREBBP | c.727C= (p.Leu243=) c.673C= (p.Leu225=) | |
| 16 | g.3850368G>T | CA7870626 | CREBBP | c.727C>A (p.Leu243Ile) c.673C>A (p.Leu225Ile) | dbSNP ExAC gnomAD v2 |
| 16 | g.3850369G>A | CA493276470 | CREBBP | c.726C>T (p.Thr242=) c.672C>T (p.Thr224=) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.3850369G>C | CA493276472 | CREBBP | c.726C>G (p.Thr242=) c.672C>G (p.Thr224=) | ClinVar dbSNP |
| 16 | g.3850369G= | CA2202993996 | CREBBP | c.726C= (p.Thr242=) c.672C= (p.Thr224=) | |
| 16 | g.3850369G>T | CA493276471 | CREBBP | c.726C>A (p.Thr242=) c.672C>A (p.Thr224=) | |
| 16 | g.3850370G>A | CA394559360 | CREBBP | c.725C>T (p.Thr242Ile) c.671C>T (p.Thr224Ile) | gnomAD v4 |
| 16 | g.3850370G>C | CA394559361 | CREBBP | c.725C>G (p.Thr242Ser) c.671C>G (p.Thr224Ser) | |
| 16 | g.3850370G>T | CA394559363 | CREBBP | c.725C>A (p.Thr242Asn) c.671C>A (p.Thr224Asn) | ClinVar gnomAD v4 |
| 16 | g.3850371T>A | CA394559366 | CREBBP | c.724A>T (p.Thr242Ser) c.670A>T (p.Thr224Ser) | |
| 16 | g.3850371T>C | CA394559368 | CREBBP | c.724A>G (p.Thr242Ala) c.670A>G (p.Thr224Ala) | |
| 16 | g.3850371T>G | CA394559369 | CREBBP | c.724A>C (p.Thr242Pro) c.670A>C (p.Thr224Pro) | dbSNP |
| 16 | g.3850372C>A | CA394559370 | CREBBP | c.723G>T (p.Glu241Asp) c.669G>T (p.Glu223Asp) | gnomAD v4 |
| 16 | g.3850372C= | CA2202993997 | CREBBP | c.723G= (p.Glu241=) c.669G= (p.Glu223=) | |
| 16 | g.3850372C>G | CA394559371 | CREBBP | c.723G>C (p.Glu241Asp) c.669G>C (p.Glu223Asp) | dbSNP |
| 16 | g.3850372C>T | CA493276473 | CREBBP | c.723G>A (p.Glu241=) c.669G>A (p.Glu223=) | gnomAD v4 |
| 16 | g.3850373T>A | CA394559373 | CREBBP | c.722A>T (p.Glu241Val) c.668A>T (p.Glu223Val) | |
| 16 | g.3850373T>C | CA394559374 | CREBBP | c.722A>G (p.Glu241Gly) c.668A>G (p.Glu223Gly) | COSMIC |
| 16 | g.3850373T>G | CA394559376 | CREBBP | c.722A>C (p.Glu241Ala) c.668A>C (p.Glu223Ala) | |
| 16 | g.3850374C>A | CA394559382 | CREBBP | c.721G>T (p.Glu241Ter) c.667G>T (p.Glu223Ter) | |
| 16 | g.3850374C>G | CA394559380 | CREBBP | c.721G>C (p.Glu241Gln) c.667G>C (p.Glu223Gln) | |
| 16 | g.3850374C>T | CA394559378 | CREBBP | c.721G>A (p.Glu241Lys) c.667G>A (p.Glu223Lys) | ClinVar |
| 16 | g.3850375A= | CA2202993998 | CREBBP | c.720T= (p.Ala240=) c.666T= (p.Ala222=) | |
| 16 | g.3850375A>C | CA493276474 | CREBBP | c.720T>G (p.Ala240=) c.666T>G (p.Ala222=) | gnomAD v4 |
| 16 | g.3850375A>G | CA493276475 | CREBBP | c.720T>C (p.Ala240=) c.666T>C (p.Ala222=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.3850375A>T | CA493276476 | CREBBP | c.720T>A (p.Ala240=) c.666T>A (p.Ala222=) | |
| 16 | g.3850376G>A | CA7870627 | CREBBP | c.719C>T (p.Ala240Val) c.665C>T (p.Ala222Val) | ClinVar dbSNP ExAC gnomAD v4 |
| 16 | g.3850376G>C | CA394559384 | CREBBP | c.719C>G (p.Ala240Gly) c.665C>G (p.Ala222Gly) | |
| 16 | g.3850376G= | CA2202993999 | CREBBP | c.719C= (p.Ala240=) c.665C= (p.Ala222=) | |
| 16 | g.3850376G>T | CA394559386 | CREBBP | c.719C>A (p.Ala240Asp) c.665C>A (p.Ala222Asp) | |
| 16 | g.3850377C>A | CA394559388 | CREBBP | c.718G>T (p.Ala240Ser) c.664G>T (p.Ala222Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.3850377C= | CA2202994000 | CREBBP | c.718G= (p.Ala240=) c.664G= (p.Ala222=) | |
| 16 | g.3850377C>G | CA394559390 | CREBBP | c.718G>C (p.Ala240Pro) c.664G>C (p.Ala222Pro) | |
| 16 | g.3850377C>T | CA394559392 | CREBBP | c.718G>A (p.Ala240Thr) c.664G>A (p.Ala222Thr) | dbSNP gnomAD v4 |
| 16 | g.3850378C>A | CA493276477 | CREBBP | c.717G>T (p.Leu239=) c.663G>T (p.Leu221=) | |
| 16 | g.3850378C= | CA2202994001 | CREBBP | c.717G= (p.Leu239=) c.663G= (p.Leu221=) | |
| 16 | g.3850378C>G | CA493276478 | CREBBP | c.717G>C (p.Leu239=) c.663G>C (p.Leu221=) | dbSNP |
| 16 | g.3850378C>T | CA493276479 | CREBBP | c.717G>A (p.Leu239=) c.663G>A (p.Leu221=) | gnomAD v4 |
| 16 | g.3850379A>C | CA394559397 | CREBBP | c.716T>G (p.Leu239Arg) c.662T>G (p.Leu221Arg) | |
| 16 | g.3850379A>G | CA394559393 | CREBBP | c.716T>C (p.Leu239Pro) c.662T>C (p.Leu221Pro) | |
| 16 | g.3850379A>T | CA394559395 | CREBBP | c.716T>A (p.Leu239Gln) c.662T>A (p.Leu221Gln) | |
| 16 | g.3850380G>A | CA493276480 | CREBBP | c.715C>T (p.Leu239=) c.661C>T (p.Leu221=) | dbSNP gnomAD v4 |
| 16 | g.3850380G>C | CA394559399 | CREBBP | c.715C>G (p.Leu239Val) c.661C>G (p.Leu221Val) | gnomAD v4 |
| 16 | g.3850380G>T | CA394559401 | CREBBP | c.715C>A (p.Leu239Met) c.661C>A (p.Leu221Met) | |
| 16 | g.3850381C>A | CA493276481 | CREBBP | c.714G>T (p.Val238=) c.660G>T (p.Val220=) | |
| 16 | g.3850381C>G | CA493276482 | CREBBP | c.714G>C (p.Val238=) c.660G>C (p.Val220=) | COSMIC |
| 16 | g.3850381C>T | CA493276483 | CREBBP | c.714G>A (p.Val238=) c.660G>A (p.Val220=) | dbSNP |
| 16 | g.3850382A>C | CA394559404 | CREBBP | c.713T>G (p.Val238Gly) c.659T>G (p.Val220Gly) | |
| 16 | g.3850382A>G | CA394559405 | CREBBP | c.713T>C (p.Val238Ala) c.659T>C (p.Val220Ala) | |
| 16 | g.3850382A>T | CA394559407 | CREBBP | c.713T>A (p.Val238Glu) c.659T>A (p.Val220Glu) | |
| 16 | g.3850383C>A | CA7870628 | CREBBP | c.712G>T (p.Val238Leu) c.658G>T (p.Val220Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.3850383C= | CA2202994002 | CREBBP | c.712G= (p.Val238=) c.658G= (p.Val220=) | |
| 16 | g.3850383C>G | CA241543 | CREBBP | c.712G>C (p.Val238Leu) c.658G>C (p.Val220Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.3850383C>T | CA7870629 | CREBBP | c.712G>A (p.Val238Met) c.658G>A (p.Val220Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 16 | g.3850384G>A | CA241539 | CREBBP | c.711C>T (p.Ser237=) c.657C>T (p.Ser219=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.3850384G>C | CA394559415 | CREBBP | c.711C>G (p.Ser237Arg) c.657C>G (p.Ser219Arg) | dbSNP |
| 16 | g.3850384G= | CA2202994003 | CREBBP | c.711C= (p.Ser237=) c.657C= (p.Ser219=) | |
| 16 | g.3850384G>T | CA394559416 | CREBBP | c.711C>A (p.Ser237Arg) c.657C>A (p.Ser219Arg) | |
| 16 | g.3850385C>A | CA394559419 | CREBBP | c.710G>T (p.Ser237Ile) c.656G>T (p.Ser219Ile) | |
| 16 | g.3850385C>G | CA394559421 | CREBBP | c.710G>C (p.Ser237Thr) c.656G>C (p.Ser219Thr) | |
| 16 | g.3850385C>T | CA394559423 | CREBBP | c.710G>A (p.Ser237Asn) c.656G>A (p.Ser219Asn) | |
| 16 | g.3850386T>A | CA394559425 | CREBBP | c.709A>T (p.Ser237Cys) c.655A>T (p.Ser219Cys) | |
| 16 | g.3850386T>C | CA394559427 | CREBBP | c.709A>G (p.Ser237Gly) c.655A>G (p.Ser219Gly) | |
| 16 | g.3850386T>G | CA394559429 | CREBBP | c.709A>C (p.Ser237Arg) c.655A>C (p.Ser219Arg) | gnomAD v4 |
| 16 | g.3850387G>A | CA493276485 | CREBBP | c.708C>T (p.Ser236=) c.654C>T (p.Ser218=) | dbSNP gnomAD v4 |
| 16 | g.3850387G>C | CA394559431 | CREBBP | c.708C>G (p.Ser236Arg) c.654C>G (p.Ser218Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.3850387G= | CA2202994004 | CREBBP | c.708C= (p.Ser236=) c.654C= (p.Ser218=) | |
| 16 | g.3850387G>T | CA394559433 | CREBBP | c.708C>A (p.Ser236Arg) c.654C>A (p.Ser218Arg) | |
| 16 | g.3850388C>A | CA394559439 | CREBBP | c.707G>T (p.Ser236Ile) c.653G>T (p.Ser218Ile) | |
| 16 | g.3850388C>G | CA394559437 | CREBBP | c.707G>C (p.Ser236Thr) c.653G>C (p.Ser218Thr) | |
| 16 | g.3850388C>T | CA394559435 | CREBBP | c.707G>A (p.Ser236Asn) c.653G>A (p.Ser218Asn) | |
| 16 | g.3850389T>A | CA394559441 | CREBBP | c.706A>T (p.Ser236Cys) c.652A>T (p.Ser218Cys) | |
| 16 | g.3850389T>C | CA394559445 | CREBBP | c.706A>G (p.Ser236Gly) c.652A>G (p.Ser218Gly) | |
| 16 | g.3850389T>G | CA394559443 | CREBBP | c.706A>C (p.Ser236Arg) c.652A>C (p.Ser218Arg) | |
| 16 | g.3850390C>A | CA493276491 | CREBBP | c.705G>T (p.Ser235=) c.651G>T (p.Ser217=) | |
| 16 | g.3850390C= | CA2202994005 | CREBBP | c.705G= (p.Ser235=) c.651G= (p.Ser217=) | |
| 16 | g.3850390C>G | CA276986786 | CREBBP | c.705G>C (p.Ser235=) c.651G>C (p.Ser217=) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.3850390C>T | CA493276490 | CREBBP | c.705G>A (p.Ser235=) c.651G>A (p.Ser217=) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.3850391G>A | CA7870630 | CREBBP | c.704C>T (p.Ser235Leu) c.650C>T (p.Ser217Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.3850391G>C | CA394559450 | CREBBP | c.704C>G (p.Ser235Trp) c.650C>G (p.Ser217Trp) | dbSNP gnomAD v4 |
| 16 | g.3850391G= | CA2202994006 | CREBBP | c.704C= (p.Ser235=) c.650C= (p.Ser217=) | |
| 16 | g.3850391G>T | CA394559448 | CREBBP | c.704C>A (p.Ser235Ter) c.650C>A (p.Ser217Ter) | |
| 16 | g.3850392A>C | CA394559452 | CREBBP | c.703T>G (p.Ser235Ala) c.649T>G (p.Ser217Ala) | |
| 16 | g.3850392A>G | CA394559454 | CREBBP | c.703T>C (p.Ser235Pro) c.649T>C (p.Ser217Pro) | |
| 16 | g.3850392A>T | CA394559455 | CREBBP | c.703T>A (p.Ser235Thr) c.649T>A (p.Ser217Thr) | dbSNP |
| 16 | g.3850393G>A | CA493276495 | CREBBP | c.702C>T (p.Ala234=) c.648C>T (p.Ala216=) | ClinVar dbSNP |
| 16 | g.3850393G>C | CA276986788 | CREBBP | c.702C>G (p.Ala234=) c.648C>G (p.Ala216=) | dbSNP |
| 16 | g.3850393G= | CA2202994007 | CREBBP | c.702C= (p.Ala234=) c.648C= (p.Ala216=) | |
| 16 | g.3850393G>T | CA493276497 | CREBBP | c.702C>A (p.Ala234=) c.648C>A (p.Ala216=) | |
| 16 | g.3850394G>A | CA179942 | CREBBP | c.701C>T (p.Ala234Val) c.647C>T (p.Ala216Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.3850394G>C | CA394559459 | CREBBP | c.701C>G (p.Ala234Gly) c.647C>G (p.Ala216Gly) | |
| 16 | g.3850394G= | CA2202994008 | CREBBP | c.701C= (p.Ala234=) c.647C= (p.Ala216=) | |
| 16 | g.3850394G>T | CA394559461 | CREBBP | c.701C>A (p.Ala234Asp) c.647C>A (p.Ala216Asp) | |
| 16 | g.3850395C>A | CA394559463 | CREBBP | c.700G>T (p.Ala234Ser) c.646G>T (p.Ala216Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.3850395C= | CA2202994009 | CREBBP | c.700G= (p.Ala234=) c.646G= (p.Ala216=) | |
| 16 | g.3850395C>G | CA394559465 | CREBBP | c.700G>C (p.Ala234Pro) c.646G>C (p.Ala216Pro) | |
| 16 | g.3850395C>T | CA394559467 | CREBBP | c.700G>A (p.Ala234Thr) c.646G>A (p.Ala216Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.3850396G>A | CA493276501 | CREBBP | c.699C>T (p.Gly233=) c.645C>T (p.Gly215=) | ClinVar dbSNP |
| 16 | g.3850396G>C | CA493276499 | CREBBP | c.699C>G (p.Gly233=) c.645C>G (p.Gly215=) | dbSNP |
| 16 | g.3850396G= | CA2202994011 | CREBBP | c.699C= (p.Gly233=) c.645C= (p.Gly215=) | |
| 16 | g.3850396G>T | CA493276500 | CREBBP | c.699C>A (p.Gly233=) c.645C>A (p.Gly215=) | gnomAD v4 |
| 16 | g.3850396_3850433delinsGCCCTGCATGGCTGGAGTAGGGTACGGCATTCCAGCTC | CA2202994010 | CREBBP | c.662_699delinsGAGCTGGAATGCCGTACCCTACTCCAGCCATGCAGGGC (p.Gly221=) c.608_645delinsGAGCTGGAATGCCGTACCCTACTCCAGCCATGCAGGGC (p.Gly203=) | |
| 16 | g.3850397C>A | CA394559474 | CREBBP | c.698G>T (p.Gly233Val) c.644G>T (p.Gly215Val) | gnomAD v4 |
| 16 | g.3850397C= | CA2202994012 | CREBBP | c.698G= (p.Gly233=) c.644G= (p.Gly215=) | |
| 16 | g.3850397C>G | CA394559472 | CREBBP | c.698G>C (p.Gly233Ala) c.644G>C (p.Gly215Ala) | |
| 16 | g.3850397C>T | CA394559470 | CREBBP | c.698G>A (p.Gly233Asp) c.644G>A (p.Gly215Asp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.3850401_3850437del | CA915949055 | CREBBP | c.662_698del (p.Gly221AlafsTer11) c.608_644del (p.Gly203AlafsTer11) | ClinVar dbSNP |
| 16 | g.3850398C>A | CA394559477 | CREBBP | c.697G>T (p.Gly233Cys) c.643G>T (p.Gly215Cys) | |
| 16 | g.3850398C= | CA2202994013 | CREBBP | c.697G= (p.Gly233=) c.643G= (p.Gly215=) | |
| 16 | g.3850398C>G | CA394559479 | CREBBP | c.697G>C (p.Gly233Arg) c.643G>C (p.Gly215Arg) | dbSNP |
| 16 | g.3850398C>T | CA394559481 | CREBBP | c.697G>A (p.Gly233Ser) c.643G>A (p.Gly215Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.3850399C>A | CA394559484 | CREBBP | c.696G>T (p.Gln232His) c.642G>T (p.Gln214His) | |
| 16 | g.3850399C= | CA2202994014 | CREBBP | c.696G= (p.Gln232=) c.642G= (p.Gln214=) | |
| 16 | g.3850399C>G | CA394559486 | CREBBP | c.696G>C (p.Gln232His) c.642G>C (p.Gln214His) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.3850399C>T | CA493276509 | CREBBP | c.696G>A (p.Gln232=) c.642G>A (p.Gln214=) | |
| 16 | g.3850400T>A | CA394559489 | CREBBP | c.695A>T (p.Gln232Leu) c.641A>T (p.Gln214Leu) | |
| 16 | g.3850400T>C | CA394559491 | CREBBP | c.695A>G (p.Gln232Arg) c.641A>G (p.Gln214Arg) | ClinVar dbSNP gnomAD v4 |
| 16 | g.3850400T>G | CA394559494 | CREBBP | c.695A>C (p.Gln232Pro) c.641A>C (p.Gln214Pro) | |
| 16 | g.3850400T= | CA2202994015 | CREBBP | c.695A= (p.Gln232=) c.641A= (p.Gln214=) | |
| 16 | g.3850401G>A | CA394559497 | CREBBP | c.694C>T (p.Gln232Ter) c.640C>T (p.Gln214Ter) | dbSNP COSMIC |
| 16 | g.3850401G>C | CA394559500 | CREBBP | c.694C>G (p.Gln232Glu) c.640C>G (p.Gln214Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.3850401G= | CA2202994016 | CREBBP | c.694C= (p.Gln232=) c.640C= (p.Gln214=) | |
| 16 | g.3850401G>T | CA394559502 | CREBBP | c.694C>A (p.Gln232Lys) c.640C>A (p.Gln214Lys) | |
| 16 | g.3850402C>A | CA394559511 | CREBBP | c.693G>T (p.Met231Ile) c.639G>T (p.Met213Ile) | |
| 16 | g.3850402C= | CA2202994017 | CREBBP | c.693G= (p.Met231=) c.639G= (p.Met213=) | |
| 16 | g.3850402C>G | CA394559514 | CREBBP | c.693G>C (p.Met231Ile) c.639G>C (p.Met213Ile) | |
| 16 | g.3850402C>T | CA394559509 | CREBBP | c.693G>A (p.Met231Ile) c.639G>A (p.Met213Ile) | dbSNP |
| 16 | g.3850403A= | CA2202994018 | CREBBP | c.692T= (p.Met231=) c.638T= (p.Met213=) | |
| 16 | g.3850403A>C | CA394559517 | CREBBP | c.692T>G (p.Met231Arg) c.638T>G (p.Met213Arg) | |
| 16 | g.3850403A>G | CA394559520 | CREBBP | c.692T>C (p.Met231Thr) c.638T>C (p.Met213Thr) | dbSNP gnomAD v4 |
| 16 | g.3850403A>T | CA394559522 | CREBBP | c.692T>A (p.Met231Lys) c.638T>A (p.Met213Lys) | |
| 16 | g.3850404T>A | CA394559525 | CREBBP | c.691A>T (p.Met231Leu) c.637A>T (p.Met213Leu) | |
| 16 | g.3850404T>C | CA394559528 | CREBBP | c.691A>G (p.Met231Val) c.637A>G (p.Met213Val) | |
| 16 | g.3850404T>G | CA394559531 | CREBBP | c.691A>C (p.Met231Leu) c.637A>C (p.Met213Leu) | |
| 16 | g.3850405G>A | CA493276516 | CREBBP | c.690C>T (p.Ala230=) c.636C>T (p.Ala212=) | gnomAD v4 COSMIC |
| 16 | g.3850405G>C | CA493276517 | CREBBP | c.690C>G (p.Ala230=) c.636C>G (p.Ala212=) | |
| 16 | g.3850405G>T | CA493276518 | CREBBP | c.690C>A (p.Ala230=) c.636C>A (p.Ala212=) | |
| 16 | g.3850406G>A | CA394559534 | CREBBP | c.689C>T (p.Ala230Val) c.635C>T (p.Ala212Val) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.3850406G>C | CA394559537 | CREBBP | c.689C>G (p.Ala230Gly) c.635C>G (p.Ala212Gly) | dbSNP |
| 16 | g.3850406G= | CA2202994019 | CREBBP | c.689C= (p.Ala230=) c.635C= (p.Ala212=) | |
| 16 | g.3850406G>T | CA394559540 | CREBBP | c.689C>A (p.Ala230Asp) c.635C>A (p.Ala212Asp) | |
| 16 | g.3850407C>A | CA276986815 | CREBBP | c.688G>T (p.Ala230Ser) c.634G>T (p.Ala212Ser) | dbSNP |
| 16 | g.3850407C= | CA2202994020 | CREBBP | c.688G= (p.Ala230=) c.634G= (p.Ala212=) | |
| 16 | g.3850407C>G | CA394559545 | CREBBP | c.688G>C (p.Ala230Pro) c.634G>C (p.Ala212Pro) | |
| 16 | g.3850407C>T | CA394559548 | CREBBP | c.688G>A (p.Ala230Thr) c.634G>A (p.Ala212Thr) | gnomAD v4 |
| 16 | g.3850408T>A | CA493276522 | CREBBP | c.687A>T (p.Pro229=) c.633A>T (p.Pro211=) | COSMIC |
| 16 | g.3850408T>C | CA493276523 | CREBBP | c.687A>G (p.Pro229=) c.633A>G (p.Pro211=) | |
| 16 | g.3850408T>G | CA493276524 | CREBBP | c.687A>C (p.Pro229=) c.633A>C (p.Pro211=) | |
| 16 | g.3850409G>A | CA394559558 | CREBBP | c.686C>T (p.Pro229Leu) c.632C>T (p.Pro211Leu) | dbSNP gnomAD v4 |
| 16 | g.3850409G>C | CA394559553 | CREBBP | c.686C>G (p.Pro229Arg) c.632C>G (p.Pro211Arg) | |
| 16 | g.3850409G>T | CA394559555 | CREBBP | c.686C>A (p.Pro229Gln) c.632C>A (p.Pro211Gln) | |
| 16 | g.3850410G>A | CA7870631 | CREBBP | c.685C>T (p.Pro229Ser) c.631C>T (p.Pro211Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.3850410G>C | CA394559563 | CREBBP | c.685C>G (p.Pro229Ala) c.631C>G (p.Pro211Ala) | dbSNP |
| 16 | g.3850410G= | CA2202994021 | CREBBP | c.685C= (p.Pro229=) c.631C= (p.Pro211=) | |
| 16 | g.3850410G>T | CA394559566 | CREBBP | c.685C>A (p.Pro229Thr) c.631C>A (p.Pro211Thr) | |
| 16 | g.3850411A>C | CA493276527 | CREBBP | c.684T>G (p.Thr228=) c.630T>G (p.Thr210=) | |
| 16 | g.3850411A>G | CA493276528 | CREBBP | c.684T>C (p.Thr228=) c.630T>C (p.Thr210=) | |
| 16 | g.3850411A>T | CA493276529 | CREBBP | c.684T>A (p.Thr228=) c.630T>A (p.Thr210=) | |
| 16 | g.3850412G>A | CA394559568 | CREBBP | c.683C>T (p.Thr228Ile) c.629C>T (p.Thr210Ile) | dbSNP gnomAD v4 |
| 16 | g.3850412G>C | CA394559569 | CREBBP | c.683C>G (p.Thr228Ser) c.629C>G (p.Thr210Ser) | gnomAD v4 |
| 16 | g.3850412G>T | CA394559570 | CREBBP | c.683C>A (p.Thr228Asn) c.629C>A (p.Thr210Asn) | |
| 16 | g.3850413T>A | CA394559571 | CREBBP | c.682A>T (p.Thr228Ser) c.628A>T (p.Thr210Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.3850413T>C | CA394559572 | CREBBP | c.682A>G (p.Thr228Ala) c.628A>G (p.Thr210Ala) | COSMIC |
| 16 | g.3850413T>G | CA394559574 | CREBBP | c.682A>C (p.Thr228Pro) c.628A>C (p.Thr210Pro) | dbSNP gnomAD v4 |
| 16 | g.3850413T= | CA2202994022 | CREBBP | c.682A= (p.Thr228=) c.628A= (p.Thr210=) | |
| 16 | g.3850414A= | CA2202994023 | CREBBP | c.681T= (p.Pro227=) c.627T= (p.Pro209=) | |
| 16 | g.3850414A>C | CA493276530 | CREBBP | c.681T>G (p.Pro227=) c.627T>G (p.Pro209=) | |
| 16 | g.3850414A>G | CA7870632 | CREBBP | c.681T>C (p.Pro227=) c.627T>C (p.Pro209=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.3850414A>T | CA493276531 | CREBBP | c.681T>A (p.Pro227=) c.627T>A (p.Pro209=) | COSMIC |
| 16 | g.3850415G>A | CA394559576 | CREBBP | c.680C>T (p.Pro227Leu) c.626C>T (p.Pro209Leu) | |
| 16 | g.3850415G>C | CA394559577 | CREBBP | c.680C>G (p.Pro227Arg) c.626C>G (p.Pro209Arg) | dbSNP gnomAD v2 |
| 16 | g.3850415G= | CA2202994024 | CREBBP | c.680C= (p.Pro227=) c.626C= (p.Pro209=) | |
| 16 | g.3850415G>T | CA394559578 | CREBBP | c.680C>A (p.Pro227His) c.626C>A (p.Pro209His) | dbSNP |
| 16 | g.3850416G>A | CA7870633 | CREBBP | c.679C>T (p.Pro227Ser) c.625C>T (p.Pro209Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.3850416G>C | CA394559581 | CREBBP | c.679C>G (p.Pro227Ala) c.625C>G (p.Pro209Ala) | gnomAD v4 |
| 16 | g.3850416G= | CA2202994025 | CREBBP | c.679C= (p.Pro227=) c.625C= (p.Pro209=) | |
| 16 | g.3850416G>T | CA394559579 | CREBBP | c.679C>A (p.Pro227Thr) c.625C>A (p.Pro209Thr) | |
| 16 | g.3850417G>A | CA493276535 | CREBBP | c.678C>T (p.Tyr226=) c.624C>T (p.Tyr208=) | gnomAD v4 |
| 16 | g.3850417G>C | CA394559585 | CREBBP | c.678C>G (p.Tyr226Ter) c.624C>G (p.Tyr208Ter) | |
| 16 | g.3850417G>T | CA394559582 | CREBBP | c.678C>A (p.Tyr226Ter) c.624C>A (p.Tyr208Ter) | |
| 16 | g.3850418T>A | CA394559586 | CREBBP | c.677A>T (p.Tyr226Phe) c.623A>T (p.Tyr208Phe) | |
| 16 | g.3850418T>C | CA394559587 | CREBBP | c.677A>G (p.Tyr226Cys) c.623A>G (p.Tyr208Cys) | gnomAD v4 |
| 16 | g.3850418T>G | CA394559589 | CREBBP | c.677A>C (p.Tyr226Ser) c.623A>C (p.Tyr208Ser) | dbSNP |
| 16 | g.3850418T= | CA2202994026 | CREBBP | c.677A= (p.Tyr226=) c.623A= (p.Tyr208=) | |
| 16 | g.3850419A>C | CA394559590 | CREBBP | c.676T>G (p.Tyr226Asp) c.622T>G (p.Tyr208Asp) | dbSNP |
| 16 | g.3850419A>G | CA394559592 | CREBBP | c.676T>C (p.Tyr226His) c.622T>C (p.Tyr208His) | |
| 16 | g.3850419A>T | CA394559600 | CREBBP | c.676T>A (p.Tyr226Asn) c.622T>A (p.Tyr208Asn) | |
| 16 | g.3850419_3850420delinsAC | CA2202994027 | CREBBP | c.675_676delinsGT (p.Pro225=) c.621_622delinsGT (p.Pro207=) | |
| 16 | g.3850420del | CA7870634 | CREBBP | c.675del (p.Tyr226ThrfsTer18) c.621del (p.Tyr208ThrfsTer18) | dbSNP ExAC gnomAD v2 |
| 16 | g.3850420C>A | CA493276538 | CREBBP | c.675G>T (p.Pro225=) c.621G>T (p.Pro207=) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.3850420C= | CA2202994028 | CREBBP | c.675G= (p.Pro225=) c.621G= (p.Pro207=) | |
| 16 | g.3850420C>G | CA493276539 | CREBBP | c.675G>C (p.Pro225=) c.621G>C (p.Pro207=) | gnomAD v4 |
| 16 | g.3850420C>T | CA7870635 | CREBBP | c.675G>A (p.Pro225=) c.621G>A (p.Pro207=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.3850421G>A | CA276986854 | CREBBP | c.674C>T (p.Pro225Leu) c.620C>T (p.Pro207Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 16 | g.3850421G>C | CA7870636 | CREBBP | c.674C>G (p.Pro225Arg) c.620C>G (p.Pro207Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.3850421G= | CA2202994029 | CREBBP | c.674C= (p.Pro225=) c.620C= (p.Pro207=) | |
| 16 | g.3850421G>T | CA7870637 | CREBBP | c.674C>A (p.Pro225Gln) c.620C>A (p.Pro207Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.3850422G>A | CA394559625 | CREBBP | c.673C>T (p.Pro225Ser) c.619C>T (p.Pro207Ser) | dbSNP gnomAD v4 |
| 16 | g.3850422G>C | CA394559620 | CREBBP | c.673C>G (p.Pro225Ala) c.619C>G (p.Pro207Ala) | |
| 16 | g.3850422G= | CA2202994030 | CREBBP | c.673C= (p.Pro225=) c.619C= (p.Pro207=) | |
| 16 | g.3850422G>T | CA394559622 | CREBBP | c.673C>A (p.Pro225Thr) c.619C>A (p.Pro207Thr) | |
| 16 | g.3850423C>A | CA394559629 | CREBBP | c.672G>T (p.Met224Ile) c.618G>T (p.Met206Ile) | |
| 16 | g.3850423C>G | CA394559631 | CREBBP | c.672G>C (p.Met224Ile) c.618G>C (p.Met206Ile) | gnomAD v4 |
| 16 | g.3850423C>T | CA394559633 | CREBBP | c.672G>A (p.Met224Ile) c.618G>A (p.Met206Ile) | |
| 16 | g.3850424A>C | CA394559636 | CREBBP | c.671T>G (p.Met224Arg) c.617T>G (p.Met206Arg) | |
| 16 | g.3850424A>G | CA394559638 | CREBBP | c.671T>C (p.Met224Thr) c.617T>C (p.Met206Thr) | |
| 16 | g.3850424A>T | CA394559641 | CREBBP | c.671T>A (p.Met224Lys) c.617T>A (p.Met206Lys) | |
| 16 | g.3850425T>A | CA394559644 | CREBBP | c.670A>T (p.Met224Leu) c.616A>T (p.Met206Leu) | |
| 16 | g.3850425T>C | CA394559645 | CREBBP | c.670A>G (p.Met224Val) c.616A>G (p.Met206Val) | |
| 16 | g.3850425T>G | CA394559648 | CREBBP | c.670A>C (p.Met224Leu) c.616A>C (p.Met206Leu) | |
| 16 | g.3850426T>A | CA493276549 | CREBBP | c.669A>T (p.Gly223=) c.615A>T (p.Gly205=) | |
| 16 | g.3850426T>C | CA493276550 | CREBBP | c.669A>G (p.Gly223=) c.615A>G (p.Gly205=) | ClinVar |
| 16 | g.3850426T>G | CA493276551 | CREBBP | c.669A>C (p.Gly223=) c.615A>C (p.Gly205=) | |
| 16 | g.3850427C>A | CA394559650 | CREBBP | c.668G>T (p.Gly223Val) c.614G>T (p.Gly205Val) | |
| 16 | g.3850427C= | CA2202994031 | CREBBP | c.668G= (p.Gly223=) c.614G= (p.Gly205=) | |
| 16 | g.3850427C>G | CA394559651 | CREBBP | c.668G>C (p.Gly223Ala) c.614G>C (p.Gly205Ala) | ClinVar dbSNP |
| 16 | g.3850427C>T | CA394559654 | CREBBP | c.668G>A (p.Gly223Glu) c.614G>A (p.Gly205Glu) | |
| 16 | g.3850428C>A | CA394559659 | CREBBP | c.667G>T (p.Gly223Ter) c.613G>T (p.Gly205Ter) | |
| 16 | g.3850428C= | CA2202994032 | CREBBP | c.667G= (p.Gly223=) c.613G= (p.Gly205=) | |
| 16 | g.3850428C>G | CA394559662 | CREBBP | c.667G>C (p.Gly223Arg) c.613G>C (p.Gly205Arg) | |
| 16 | g.3850428C>T | CA7870638 | CREBBP | c.667G>A (p.Gly223Arg) c.613G>A (p.Gly205Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.3850429A= | CA2202994033 | CREBBP | c.666T= (p.Ala222=) c.612T= (p.Ala204=) | |
| 16 | g.3850429A>C | CA493276554 | CREBBP | c.666T>G (p.Ala222=) c.612T>G (p.Ala204=) | |
| 16 | g.3850429A>G | CA7870639 | CREBBP | c.666T>C (p.Ala222=) c.612T>C (p.Ala204=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.3850429A>T | CA493276557 | CREBBP | c.666T>A (p.Ala222=) c.612T>A (p.Ala204=) | |
| 16 | g.3850430G>A | CA394559667 | CREBBP | c.665C>T (p.Ala222Val) c.611C>T (p.Ala204Val) | dbSNP |
| 16 | g.3850430G>C | CA394559669 | CREBBP | c.665C>G (p.Ala222Gly) c.611C>G (p.Ala204Gly) | |
| 16 | g.3850430G>T | CA394559672 | CREBBP | c.665C>A (p.Ala222Asp) c.611C>A (p.Ala204Asp) | |
| 16 | g.3850431C>A | CA394559675 | CREBBP | c.664G>T (p.Ala222Ser) c.610G>T (p.Ala204Ser) | dbSNP |
| 16 | g.3850431C= | CA2202994034 | CREBBP | c.664G= (p.Ala222=) c.610G= (p.Ala204=) | |
| 16 | g.3850431C>G | CA394559676 | CREBBP | c.664G>C (p.Ala222Pro) c.610G>C (p.Ala204Pro) | |
| 16 | g.3850431C>T | CA394559701 | CREBBP | c.664G>A (p.Ala222Thr) c.610G>A (p.Ala204Thr) | dbSNP |
| 16 | g.3850432T>A | CA493276562 | CREBBP | c.663A>T (p.Gly221=) c.609A>T (p.Gly203=) | COSMIC |
| 16 | g.3850432T>C | CA276986879 | CREBBP | c.663A>G (p.Gly221=) c.609A>G (p.Gly203=) | dbSNP gnomAD v4 |
| 16 | g.3850432T>G | CA493276563 | CREBBP | c.663A>C (p.Gly221=) c.609A>C (p.Gly203=) | |
| 16 | g.3850432T= | CA2202994035 | CREBBP | c.663A= (p.Gly221=) c.609A= (p.Gly203=) | |
| 16 | g.3850433C>A | CA394559706 | CREBBP | c.662G>T (p.Gly221Val) c.608G>T (p.Gly203Val) | gnomAD v4 |
| 16 | g.3850433C>G | CA394559709 | CREBBP | c.662G>C (p.Gly221Ala) c.608G>C (p.Gly203Ala) | |
| 16 | g.3850433C>T | CA394559707 | CREBBP | c.662G>A (p.Gly221Glu) c.608G>A (p.Gly203Glu) | dbSNP |
| 16 | g.3850434C>A | CA394559714 | CREBBP | c.661G>T (p.Gly221Ter) c.607G>T (p.Gly203Ter) | |
| 16 | g.3850434C>G | CA394559717 | CREBBP | c.661G>C (p.Gly221Arg) c.607G>C (p.Gly203Arg) | |
| 16 | g.3850434C>T | CA394559720 | CREBBP | c.661G>A (p.Gly221Arg) c.607G>A (p.Gly203Arg) | |
| 16 | g.3850435C>A | CA394559725 | CREBBP | c.660G>T (p.Arg220Ser) c.606G>T (p.Arg202Ser) | |
| 16 | g.3850435C>G | CA394559727 | CREBBP | c.660G>C (p.Arg220Ser) c.606G>C (p.Arg202Ser) | |
| 16 | g.3850435C>T | CA493276569 | CREBBP | c.660G>A (p.Arg220=) c.606G>A (p.Arg202=) |