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.3727470_3727786delinsAAAACGGAAAAAAAAGAACCCCCCCCACCCCCCCGCCAAAAAAAAACCAAAGAGAGAGACCAGATATTTAAATCAACTGGTTTTTAACAAAAAAATATATTCTTTGTATTGTTTCTTTAAACATCAATCCACCCTTCCATGGCTCGGAAGTCGCAGTTCCATCTAGGAATAAAAAGAACCTAGATGCCTGGATTTTCAGTACAAAAGGTCCAAGAACATGAAAGGGAAAAGGTGATGCTCTCACAATGCTACAAGCCCTCCACAAACTTCTCTAGCGTGTCCCCCGTGGTGTCCCCGACCAGGGACAGTTCGCTGGA | CA2202928149 | CREBBP | c.7261_*248delinsTCCAGCGAACTGTCCCTGGTCGGGGACACCACGGGGGACACGCTAGAGAAGTTTGTGGAGGGCTTGTAGCATTGTGAGAGCATCACCTTTTCCCTTTCATGTTCTTGGACCTTTTGTACTGAAAATCCAGGCATCTAGGTTCTTTTTATTCCTAGATGGAACTGCGACTTCCGAGCCATGGAAGGGTGGATTGATGTTTAAAGAAACAATACAAAGAATATATTTTTTTGTTAAAAACCAGTTGATTTAAATATCTGGTCTCTCTCTTTGGTTTTTTTTTGGCGGGGGGGTGGGGGGGGTTCTTTTTTTTCCGTTTT (n.[c.7261_*248delinsTCCAGCGAACTGTCCCTGGTCGGGGACACCACGGGGGACACGCTAGAGAAGTTTGTGGAGGGCTTGTAGCATTGTGAGAGCATCACCTTTTCCCTTTCATGTTCTTGGACCTTTTGTACTGAAAATCCAGGCATCTAGGTTCTTTTTATTCCTAGATGGAACTGCGACTTCCGAGCCATGGAAGGGTGGATTGATGTTTAAAGAAACAATACAAAGAATATATTTTTTTGTTAAAAACCAGTTGATTTAAATATCTGGTCTCTCTCTTTGGTTTTTTTTTGGCGGGGGGGTGGGGGGGGTTCTTTTTTTTCCGTTTT;Ser2421=]) c.7147_*248delinsTCCAGCGAACTGTCCCTGGTCGGGGACACCACGGGGGACACGCTAGAGAAGTTTGTGGAGGGCTTGTAGCATTGTGAGAGCATCACCTTTTCCCTTTCATGTTCTTGGACCTTTTGTACTGAAAATCCAGGCATCTAGGTTCTTTTTATTCCTAGATGGAACTGCGACTTCCGAGCCATGGAAGGGTGGATTGATGTTTAAAGAAACAATACAAAGAATATATTTTTTTGTTAAAAACCAGTTGATTTAAATATCTGGTCTCTCTCTTTGGTTTTTTTTTGGCGGGGGGGTGGGGGGGGTTCTTTTTTTTCCGTTTT (n.[c.7147_*248delinsTCCAGCGAACTGTCCCTGGTCGGGGACACCACGGGGGACACGCTAGAGAAGTTTGTGGAGGGCTTGTAGCATTGTGAGAGCATCACCTTTTCCCTTTCATGTTCTTGGACCTTTTGTACTGAAAATCCAGGCATCTAGGTTCTTTTTATTCCTAGATGGAACTGCGACTTCCGAGCCATGGAAGGGTGGATTGATGTTTAAAGAAACAATACAAAGAATATATTTTTTTGTTAAAAACCAGTTGATTTAAATATCTGGTCTCTCTCTTTGGTTTTTTTTTGGCGGGGGGGTGGGGGGGGTTCTTTTTTTTCCGTTTT;Ser2383=]) c.7216_*248delinsTCCAGCGAACTGTCCCTGGTCGGGGACACCACGGGGGACACGCTAGAGAAGTTTGTGGAGGGCTTGTAGCATTGTGAGAGCATCACCTTTTCCCTTTCATGTTCTTGGACCTTTTGTACTGAAAATCCAGGCATCTAGGTTCTTTTTATTCCTAGATGGAACTGCGACTTCCGAGCCATGGAAGGGTGGATTGATGTTTAAAGAAACAATACAAAGAATATATTTTTTTGTTAAAAACCAGTTGATTTAAATATCTGGTCTCTCTCTTTGGTTTTTTTTTGGCGGGGGGGTGGGGGGGGTTCTTTTTTTTCCGTTTT (n.[c.7216_*248delinsTCCAGCGAACTGTCCCTGGTCGGGGACACCACGGGGGACACGCTAGAGAAGTTTGTGGAGGGCTTGTAGCATTGTGAGAGCATCACCTTTTCCCTTTCATGTTCTTGGACCTTTTGTACTGAAAATCCAGGCATCTAGGTTCTTTTTATTCCTAGATGGAACTGCGACTTCCGAGCCATGGAAGGGTGGATTGATGTTTAAAGAAACAATACAAAGAATATATTTTTTTGTTAAAAACCAGTTGATTTAAATATCTGGTCTCTCTCTTTGGTTTTTTTTTGGCGGGGGGGTGGGGGGGGTTCTTTTTTTTCCGTTTT;Ser2406=]) c.6844_*248delinsTCCAGCGAACTGTCCCTGGTCGGGGACACCACGGGGGACACGCTAGAGAAGTTTGTGGAGGGCTTGTAGCATTGTGAGAGCATCACCTTTTCCCTTTCATGTTCTTGGACCTTTTGTACTGAAAATCCAGGCATCTAGGTTCTTTTTATTCCTAGATGGAACTGCGACTTCCGAGCCATGGAAGGGTGGATTGATGTTTAAAGAAACAATACAAAGAATATATTTTTTTGTTAAAAACCAGTTGATTTAAATATCTGGTCTCTCTCTTTGGTTTTTTTTTGGCGGGGGGGTGGGGGGGGTTCTTTTTTTTCCGTTTT (n.[c.6844_*248delinsTCCAGCGAACTGTCCCTGGTCGGGGACACCACGGGGGACACGCTAGAGAAGTTTGTGGAGGGCTTGTAGCATTGTGAGAGCATCACCTTTTCCCTTTCATGTTCTTGGACCTTTTGTACTGAAAATCCAGGCATCTAGGTTCTTTTTATTCCTAGATGGAACTGCGACTTCCGAGCCATGGAAGGGTGGATTGATGTTTAAAGAAACAATACAAAGAATATATTTTTTTGTTAAAAACCAGTTGATTTAAATATCTGGTCTCTCTCTTTGGTTTTTTTTTGGCGGGGGGGTGGGGGGGGTTCTTTTTTTTCCGTTTT;Ser2282=]) c.7000_*248delinsTCCAGCGAACTGTCCCTGGTCGGGGACACCACGGGGGACACGCTAGAGAAGTTTGTGGAGGGCTTGTAGCATTGTGAGAGCATCACCTTTTCCCTTTCATGTTCTTGGACCTTTTGTACTGAAAATCCAGGCATCTAGGTTCTTTTTATTCCTAGATGGAACTGCGACTTCCGAGCCATGGAAGGGTGGATTGATGTTTAAAGAAACAATACAAAGAATATATTTTTTTGTTAAAAACCAGTTGATTTAAATATCTGGTCTCTCTCTTTGGTTTTTTTTTGGCGGGGGGGTGGGGGGGGTTCTTTTTTTTCCGTTTT (n.[c.7000_*248delinsTCCAGCGAACTGTCCCTGGTCGGGGACACCACGGGGGACACGCTAGAGAAGTTTGTGGAGGGCTTGTAGCATTGTGAGAGCATCACCTTTTCCCTTTCATGTTCTTGGACCTTTTGTACTGAAAATCCAGGCATCTAGGTTCTTTTTATTCCTAGATGGAACTGCGACTTCCGAGCCATGGAAGGGTGGATTGATGTTTAAAGAAACAATACAAAGAATATATTTTTTTGTTAAAAACCAGTTGATTTAAATATCTGGTCTCTCTCTTTGGTTTTTTTTTGGCGGGGGGGTGGGGGGGGTTCTTTTTTTTCCGTTTT;Ser2334=]) c.7207_*248delinsTCCAGCGAACTGTCCCTGGTCGGGGACACCACGGGGGACACGCTAGAGAAGTTTGTGGAGGGCTTGTAGCATTGTGAGAGCATCACCTTTTCCCTTTCATGTTCTTGGACCTTTTGTACTGAAAATCCAGGCATCTAGGTTCTTTTTATTCCTAGATGGAACTGCGACTTCCGAGCCATGGAAGGGTGGATTGATGTTTAAAGAAACAATACAAAGAATATATTTTTTTGTTAAAAACCAGTTGATTTAAATATCTGGTCTCTCTCTTTGGTTTTTTTTTGGCGGGGGGGTGGGGGGGGTTCTTTTTTTTCCGTTTT (n.[c.7207_*248delinsTCCAGCGAACTGTCCCTGGTCGGGGACACCACGGGGGACACGCTAGAGAAGTTTGTGGAGGGCTTGTAGCATTGTGAGAGCATCACCTTTTCCCTTTCATGTTCTTGGACCTTTTGTACTGAAAATCCAGGCATCTAGGTTCTTTTTATTCCTAGATGGAACTGCGACTTCCGAGCCATGGAAGGGTGGATTGATGTTTAAAGAAACAATACAAAGAATATATTTTTTTGTTAAAAACCAGTTGATTTAAATATCTGGTCTCTCTCTTTGGTTTTTTTTTGGCGGGGGGGTGGGGGGGGTTCTTTTTTTTCCGTTTT;Ser2403=]) c.6508_*248delinsTCCAGCGAACTGTCCCTGGTCGGGGACACCACGGGGGACACGCTAGAGAAGTTTGTGGAGGGCTTGTAGCATTGTGAGAGCATCACCTTTTCCCTTTCATGTTCTTGGACCTTTTGTACTGAAAATCCAGGCATCTAGGTTCTTTTTATTCCTAGATGGAACTGCGACTTCCGAGCCATGGAAGGGTGGATTGATGTTTAAAGAAACAATACAAAGAATATATTTTTTTGTTAAAAACCAGTTGATTTAAATATCTGGTCTCTCTCTTTGGTTTTTTTTTGGCGGGGGGGTGGGGGGGGTTCTTTTTTTTCCGTTTT (n.[c.6508_*248delinsTCCAGCGAACTGTCCCTGGTCGGGGACACCACGGGGGACACGCTAGAGAAGTTTGTGGAGGGCTTGTAGCATTGTGAGAGCATCACCTTTTCCCTTTCATGTTCTTGGACCTTTTGTACTGAAAATCCAGGCATCTAGGTTCTTTTTATTCCTAGATGGAACTGCGACTTCCGAGCCATGGAAGGGTGGATTGATGTTTAAAGAAACAATACAAAGAATATATTTTTTTGTTAAAAACCAGTTGATTTAAATATCTGGTCTCTCTCTTTGGTTTTTTTTTGGCGGGGGGGTGGGGGGGGTTCTTTTTTTTCCGTTTT;Ser2170=]) c.7255_*248delinsTCCAGCGAACTGTCCCTGGTCGGGGACACCACGGGGGACACGCTAGAGAAGTTTGTGGAGGGCTTGTAGCATTGTGAGAGCATCACCTTTTCCCTTTCATGTTCTTGGACCTTTTGTACTGAAAATCCAGGCATCTAGGTTCTTTTTATTCCTAGATGGAACTGCGACTTCCGAGCCATGGAAGGGTGGATTGATGTTTAAAGAAACAATACAAAGAATATATTTTTTTGTTAAAAACCAGTTGATTTAAATATCTGGTCTCTCTCTTTGGTTTTTTTTTGGCGGGGGGGTGGGGGGGGTTCTTTTTTTTCCGTTTT (n.[c.7255_*248delinsTCCAGCGAACTGTCCCTGGTCGGGGACACCACGGGGGACACGCTAGAGAAGTTTGTGGAGGGCTTGTAGCATTGTGAGAGCATCACCTTTTCCCTTTCATGTTCTTGGACCTTTTGTACTGAAAATCCAGGCATCTAGGTTCTTTTTATTCCTAGATGGAACTGCGACTTCCGAGCCATGGAAGGGTGGATTGATGTTTAAAGAAACAATACAAAGAATATATTTTTTTGTTAAAAACCAGTTGATTTAAATATCTGGTCTCTCTCTTTGGTTTTTTTTTGGCGGGGGGGTGGGGGGGGTTCTTTTTTTTCCGTTTT;Ser2419=]) | |
| 16 | g.3727471_3727786delinsG | CA658798522 | CREBBP | c.7261_*247delinsC (n.[c.7261_*247delinsC;Ser2421LeufsTer26]) c.7147_*247delinsC (n.[c.7147_*247delinsC;Ser2383LeufsTer26]) c.7216_*247delinsC (n.[c.7216_*247delinsC;Ser2406LeufsTer26]) c.6844_*247delinsC (n.[c.6844_*247delinsC;Ser2282LeufsTer26]) c.7000_*247delinsC (n.[c.7000_*247delinsC;Ser2334LeufsTer26]) c.7207_*247delinsC (n.[c.7207_*247delinsC;Ser2403LeufsTer26]) c.6508_*247delinsC (n.[c.6508_*247delinsC;Ser2170LeufsTer26]) c.7255_*247delinsC (n.[c.7255_*247delinsC;Ser2419LeufsTer26]) | ClinVar dbSNP |
| 16 | g.3727745C>A | CA493393051 | CREBBP | c.7302G>T (p.Thr2434=) c.7188G>T (p.Thr2396=) c.7257G>T (p.Thr2419=) c.6885G>T (p.Thr2295=) c.7041G>T (p.Thr2347=) c.7248G>T (p.Thr2416=) c.6549G>T (p.Thr2183=) c.7296G>T (p.Thr2432=) | dbSNP |
| 16 | g.3727745C= | CA2202928319 | CREBBP | c.7302G= (p.Thr2434=) c.7188G= (p.Thr2396=) c.7257G= (p.Thr2419=) c.6885G= (p.Thr2295=) c.7041G= (p.Thr2347=) c.7248G= (p.Thr2416=) c.6549G= (p.Thr2183=) c.7296G= (p.Thr2432=) | |
| 16 | g.3727745C>G | CA493393052 | CREBBP | c.7302G>C (p.Thr2434=) c.7188G>C (p.Thr2396=) c.7257G>C (p.Thr2419=) c.6885G>C (p.Thr2295=) c.7041G>C (p.Thr2347=) c.7248G>C (p.Thr2416=) c.6549G>C (p.Thr2183=) c.7296G>C (p.Thr2432=) | |
| 16 | g.3727745C>T | CA179936 | CREBBP | c.7302G>A (p.Thr2434=) c.7188G>A (p.Thr2396=) c.7257G>A (p.Thr2419=) c.6885G>A (p.Thr2295=) c.7041G>A (p.Thr2347=) c.7248G>A (p.Thr2416=) c.6549G>A (p.Thr2183=) c.7296G>A (p.Thr2432=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 16 | g.3727746G>A | CA7868914 | CREBBP | c.7301C>T (p.Thr2434Met) c.7187C>T (p.Thr2396Met) c.7256C>T (p.Thr2419Met) c.6884C>T (p.Thr2295Met) c.7040C>T (p.Thr2347Met) c.7247C>T (p.Thr2416Met) c.6548C>T (p.Thr2183Met) c.7295C>T (p.Thr2432Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.3727746G>C | CA394550113 | CREBBP | c.7301C>G (p.Thr2434Arg) c.7187C>G (p.Thr2396Arg) c.7256C>G (p.Thr2419Arg) c.6884C>G (p.Thr2295Arg) c.7040C>G (p.Thr2347Arg) c.7247C>G (p.Thr2416Arg) c.6548C>G (p.Thr2183Arg) c.7295C>G (p.Thr2432Arg) | dbSNP gnomAD v4 |
| 16 | g.3727746G= | CA2202928320 | CREBBP | c.7301C= (p.Thr2434=) c.7187C= (p.Thr2396=) c.7256C= (p.Thr2419=) c.6884C= (p.Thr2295=) c.7040C= (p.Thr2347=) c.7247C= (p.Thr2416=) c.6548C= (p.Thr2183=) c.7295C= (p.Thr2432=) | |
| 16 | g.3727746G>T | CA394550114 | CREBBP | c.7301C>A (p.Thr2434Lys) c.7187C>A (p.Thr2396Lys) c.7256C>A (p.Thr2419Lys) c.6884C>A (p.Thr2295Lys) c.7040C>A (p.Thr2347Lys) c.7247C>A (p.Thr2416Lys) c.6548C>A (p.Thr2183Lys) c.7295C>A (p.Thr2432Lys) | dbSNP |
| 16 | g.3727754_3727765dup | CA2590182461 | CREBBP | c.7290_7301dup (p.Thr2434_Leu2435insThrGlyAspThr) c.7176_7187dup (p.Thr2396_Leu2397insThrGlyAspThr) c.7245_7256dup (p.Thr2419_Leu2420insThrGlyAspThr) c.6873_6884dup (p.Thr2295_Leu2296insThrGlyAspThr) c.7029_7040dup (p.Thr2347_Leu2348insThrGlyAspThr) c.7236_7247dup (p.Thr2416_Leu2417insThrGlyAspThr) c.6537_6548dup (p.Thr2183_Leu2184insThrGlyAspThr) c.7284_7295dup (p.Thr2432_Leu2433insThrGlyAspThr) | ClinVar gnomAD v3 gnomAD v4 |
| 16 | g.3727754_3727765del | CA2631401172 | CREBBP | c.7290_7301del (p.Thr2431_Thr2434del) c.7176_7187del (p.Thr2393_Thr2396del) c.7245_7256del (p.Thr2416_Thr2419del) c.6873_6884del (p.Thr2292_Thr2295del) c.7029_7040del (p.Thr2344_Thr2347del) c.7236_7247del (p.Thr2413_Thr2416del) c.6537_6548del (p.Thr2180_Thr2183del) c.7284_7295del (p.Thr2429_Thr2432del) | gnomAD v4 |
| 16 | g.3727747T>A | CA394550115 | CREBBP | c.7300A>T (p.Thr2434Ser) c.7186A>T (p.Thr2396Ser) c.7255A>T (p.Thr2419Ser) c.6883A>T (p.Thr2295Ser) c.7039A>T (p.Thr2347Ser) c.7246A>T (p.Thr2416Ser) c.6547A>T (p.Thr2183Ser) c.7294A>T (p.Thr2432Ser) | dbSNP |
| 16 | g.3727747T>C | CA394550116 | CREBBP | c.7300A>G (p.Thr2434Ala) c.7186A>G (p.Thr2396Ala) c.7255A>G (p.Thr2419Ala) c.6883A>G (p.Thr2295Ala) c.7039A>G (p.Thr2347Ala) c.7246A>G (p.Thr2416Ala) c.6547A>G (p.Thr2183Ala) c.7294A>G (p.Thr2432Ala) | ClinVar |
| 16 | g.3727747T>G | CA394550117 | CREBBP | c.7300A>C (p.Thr2434Pro) c.7186A>C (p.Thr2396Pro) c.7255A>C (p.Thr2419Pro) c.6883A>C (p.Thr2295Pro) c.7039A>C (p.Thr2347Pro) c.7246A>C (p.Thr2416Pro) c.6547A>C (p.Thr2183Pro) c.7294A>C (p.Thr2432Pro) | |
| 16 | g.3727748G>A | CA493393056 | CREBBP | c.7299C>T (p.Asp2433=) c.7185C>T (p.Asp2395=) c.7254C>T (p.Asp2418=) c.6882C>T (p.Asp2294=) c.7038C>T (p.Asp2346=) c.7245C>T (p.Asp2415=) c.6546C>T (p.Asp2182=) c.7293C>T (p.Asp2431=) | |
| 16 | g.3727748G>C | CA394550119 | CREBBP | c.7299C>G (p.Asp2433Glu) c.7185C>G (p.Asp2395Glu) c.7254C>G (p.Asp2418Glu) c.6882C>G (p.Asp2294Glu) c.7038C>G (p.Asp2346Glu) c.7245C>G (p.Asp2415Glu) c.6546C>G (p.Asp2182Glu) c.7293C>G (p.Asp2431Glu) | dbSNP |
| 16 | g.3727748G>T | CA394550118 | CREBBP | c.7299C>A (p.Asp2433Glu) c.7185C>A (p.Asp2395Glu) c.7254C>A (p.Asp2418Glu) c.6882C>A (p.Asp2294Glu) c.7038C>A (p.Asp2346Glu) c.7245C>A (p.Asp2415Glu) c.6546C>A (p.Asp2182Glu) c.7293C>A (p.Asp2431Glu) | dbSNP |
| 16 | g.3727749T>A | CA394550120 | CREBBP | c.7298A>T (p.Asp2433Val) c.7184A>T (p.Asp2395Val) c.7253A>T (p.Asp2418Val) c.6881A>T (p.Asp2294Val) c.7037A>T (p.Asp2346Val) c.7244A>T (p.Asp2415Val) c.6545A>T (p.Asp2182Val) c.7292A>T (p.Asp2431Val) | |
| 16 | g.3727749T>C | CA394550121 | CREBBP | c.7298A>G (p.Asp2433Gly) c.7184A>G (p.Asp2395Gly) c.7253A>G (p.Asp2418Gly) c.6881A>G (p.Asp2294Gly) c.7037A>G (p.Asp2346Gly) c.7244A>G (p.Asp2415Gly) c.6545A>G (p.Asp2182Gly) c.7292A>G (p.Asp2431Gly) | gnomAD v4 |
| 16 | g.3727749T>G | CA394550122 | CREBBP | c.7298A>C (p.Asp2433Ala) c.7184A>C (p.Asp2395Ala) c.7253A>C (p.Asp2418Ala) c.6881A>C (p.Asp2294Ala) c.7037A>C (p.Asp2346Ala) c.7244A>C (p.Asp2415Ala) c.6545A>C (p.Asp2182Ala) c.7292A>C (p.Asp2431Ala) | |
| 16 | g.3727750C>A | CA394550123 | CREBBP | c.7297G>T (p.Asp2433Tyr) c.7183G>T (p.Asp2395Tyr) c.7252G>T (p.Asp2418Tyr) c.6880G>T (p.Asp2294Tyr) c.7036G>T (p.Asp2346Tyr) c.7243G>T (p.Asp2415Tyr) c.6544G>T (p.Asp2182Tyr) c.7291G>T (p.Asp2431Tyr) | |
| 16 | g.3727750C>G | CA394550124 | CREBBP | c.7297G>C (p.Asp2433His) c.7183G>C (p.Asp2395His) c.7252G>C (p.Asp2418His) c.6880G>C (p.Asp2294His) c.7036G>C (p.Asp2346His) c.7243G>C (p.Asp2415His) c.6544G>C (p.Asp2182His) c.7291G>C (p.Asp2431His) | dbSNP |
| 16 | g.3727750C>T | CA394550125 | CREBBP | c.7297G>A (p.Asp2433Asn) c.7183G>A (p.Asp2395Asn) c.7252G>A (p.Asp2418Asn) c.6880G>A (p.Asp2294Asn) c.7036G>A (p.Asp2346Asn) c.7243G>A (p.Asp2415Asn) c.6544G>A (p.Asp2182Asn) c.7291G>A (p.Asp2431Asn) | dbSNP gnomAD v4 |
| 16 | g.3727752_3727754dup | CA2631401173 | CREBBP | c.7295_7297dup (p.Gly2432_Asp2433insGly) c.7181_7183dup (p.Gly2394_Asp2395insGly) c.7250_7252dup (p.Gly2417_Asp2418insGly) c.6878_6880dup (p.Gly2293_Asp2294insGly) c.7034_7036dup (p.Gly2345_Asp2346insGly) c.7241_7243dup (p.Gly2414_Asp2415insGly) c.6542_6544dup (p.Gly2181_Asp2182insGly) c.7289_7291dup (p.Gly2430_Asp2431insGly) | gnomAD v4 |
| 16 | g.3727754del | CA2731837511 | CREBBP | c.7297del (p.Asp2433ThrfsTer3) c.7183del (p.Asp2395ThrfsTer3) c.7252del (p.Asp2418ThrfsTer3) c.6880del (p.Asp2294ThrfsTer3) c.7036del (p.Asp2346ThrfsTer3) c.7243del (p.Asp2415ThrfsTer3) c.6544del (p.Asp2182ThrfsTer3) c.7291del (p.Asp2431ThrfsTer3) | dbSNP |
| 16 | g.3727751C>A | CA493393058 | CREBBP | c.7296G>T (p.Gly2432=) c.7182G>T (p.Gly2394=) c.7251G>T (p.Gly2417=) c.6879G>T (p.Gly2293=) c.7035G>T (p.Gly2345=) c.7242G>T (p.Gly2414=) c.6543G>T (p.Gly2181=) c.7290G>T (p.Gly2430=) | dbSNP |
| 16 | g.3727751C>G | CA493393059 | CREBBP | c.7296G>C (p.Gly2432=) c.7182G>C (p.Gly2394=) c.7251G>C (p.Gly2417=) c.6879G>C (p.Gly2293=) c.7035G>C (p.Gly2345=) c.7242G>C (p.Gly2414=) c.6543G>C (p.Gly2181=) c.7290G>C (p.Gly2430=) | |
| 16 | g.3727751C>T | CA493393060 | CREBBP | c.7296G>A (p.Gly2432=) c.7182G>A (p.Gly2394=) c.7251G>A (p.Gly2417=) c.6879G>A (p.Gly2293=) c.7035G>A (p.Gly2345=) c.7242G>A (p.Gly2414=) c.6543G>A (p.Gly2181=) c.7290G>A (p.Gly2430=) | dbSNP |
| 16 | g.3727752C>A | CA394550126 | CREBBP | c.7295G>T (p.Gly2432Val) c.7181G>T (p.Gly2394Val) c.7250G>T (p.Gly2417Val) c.6878G>T (p.Gly2293Val) c.7034G>T (p.Gly2345Val) c.7241G>T (p.Gly2414Val) c.6542G>T (p.Gly2181Val) c.7289G>T (p.Gly2430Val) | gnomAD v4 |
| 16 | g.3727752C= | CA2202928321 | CREBBP | c.7295G= (p.Gly2432=) c.7181G= (p.Gly2394=) c.7250G= (p.Gly2417=) c.6878G= (p.Gly2293=) c.7034G= (p.Gly2345=) c.7241G= (p.Gly2414=) c.6542G= (p.Gly2181=) c.7289G= (p.Gly2430=) | |
| 16 | g.3727752C>G | CA394550127 | CREBBP | c.7295G>C (p.Gly2432Ala) c.7181G>C (p.Gly2394Ala) c.7250G>C (p.Gly2417Ala) c.6878G>C (p.Gly2293Ala) c.7034G>C (p.Gly2345Ala) c.7241G>C (p.Gly2414Ala) c.6542G>C (p.Gly2181Ala) c.7289G>C (p.Gly2430Ala) | dbSNP |
| 16 | g.3727752C>T | CA394550128 | CREBBP | c.7295G>A (p.Gly2432Glu) c.7181G>A (p.Gly2394Glu) c.7250G>A (p.Gly2417Glu) c.6878G>A (p.Gly2293Glu) c.7034G>A (p.Gly2345Glu) c.7241G>A (p.Gly2414Glu) c.6542G>A (p.Gly2181Glu) c.7289G>A (p.Gly2430Glu) | dbSNP gnomAD v2 |
| 16 | g.3727753C>A | CA394550129 | CREBBP | c.7294G>T (p.Gly2432Trp) c.7180G>T (p.Gly2394Trp) c.7249G>T (p.Gly2417Trp) c.6877G>T (p.Gly2293Trp) c.7033G>T (p.Gly2345Trp) c.7240G>T (p.Gly2414Trp) c.6541G>T (p.Gly2181Trp) c.7288G>T (p.Gly2430Trp) | dbSNP |
| 16 | g.3727753C>G | CA394550130 | CREBBP | c.7294G>C (p.Gly2432Arg) c.7180G>C (p.Gly2394Arg) c.7249G>C (p.Gly2417Arg) c.6877G>C (p.Gly2293Arg) c.7033G>C (p.Gly2345Arg) c.7240G>C (p.Gly2414Arg) c.6541G>C (p.Gly2181Arg) c.7288G>C (p.Gly2430Arg) | |
| 16 | g.3727753C>T | CA394550131 | CREBBP | c.7294G>A (p.Gly2432Arg) c.7180G>A (p.Gly2394Arg) c.7249G>A (p.Gly2417Arg) c.6877G>A (p.Gly2293Arg) c.7033G>A (p.Gly2345Arg) c.7240G>A (p.Gly2414Arg) c.6541G>A (p.Gly2181Arg) c.7288G>A (p.Gly2430Arg) | dbSNP |
| 16 | g.3727754C>A | CA493393064 | CREBBP | c.7293G>T (p.Thr2431=) c.7179G>T (p.Thr2393=) c.7248G>T (p.Thr2416=) c.6876G>T (p.Thr2292=) c.7032G>T (p.Thr2344=) c.7239G>T (p.Thr2413=) c.6540G>T (p.Thr2180=) c.7287G>T (p.Thr2429=) | |
| 16 | g.3727754C= | CA2202928322 | CREBBP | c.7293G= (p.Thr2431=) c.7179G= (p.Thr2393=) c.7248G= (p.Thr2416=) c.6876G= (p.Thr2292=) c.7032G= (p.Thr2344=) c.7239G= (p.Thr2413=) c.6540G= (p.Thr2180=) c.7287G= (p.Thr2429=) | |
| 16 | g.3727754C>G | CA493393063 | CREBBP | c.7293G>C (p.Thr2431=) c.7179G>C (p.Thr2393=) c.7248G>C (p.Thr2416=) c.6876G>C (p.Thr2292=) c.7032G>C (p.Thr2344=) c.7239G>C (p.Thr2413=) c.6540G>C (p.Thr2180=) c.7287G>C (p.Thr2429=) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.3727754C>T | CA171810 | CREBBP | c.7293G>A (p.Thr2431=) c.7179G>A (p.Thr2393=) c.7248G>A (p.Thr2416=) c.6876G>A (p.Thr2292=) c.7032G>A (p.Thr2344=) c.7239G>A (p.Thr2413=) c.6540G>A (p.Thr2180=) c.7287G>A (p.Thr2429=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.3727755G>A | CA7868915 | CREBBP | c.7292C>T (p.Thr2431Met) c.7178C>T (p.Thr2393Met) c.7247C>T (p.Thr2416Met) c.6875C>T (p.Thr2292Met) c.7031C>T (p.Thr2344Met) c.7238C>T (p.Thr2413Met) c.6539C>T (p.Thr2180Met) c.7286C>T (p.Thr2429Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.3727755G>C | CA394550133 | CREBBP | c.7292C>G (p.Thr2431Arg) c.7178C>G (p.Thr2393Arg) c.7247C>G (p.Thr2416Arg) c.6875C>G (p.Thr2292Arg) c.7031C>G (p.Thr2344Arg) c.7238C>G (p.Thr2413Arg) c.6539C>G (p.Thr2180Arg) c.7286C>G (p.Thr2429Arg) | dbSNP |
| 16 | g.3727755G= | CA2202928323 | CREBBP | c.7292C= (p.Thr2431=) c.7178C= (p.Thr2393=) c.7247C= (p.Thr2416=) c.6875C= (p.Thr2292=) c.7031C= (p.Thr2344=) c.7238C= (p.Thr2413=) c.6539C= (p.Thr2180=) c.7286C= (p.Thr2429=) | |
| 16 | g.3727755G>T | CA394550132 | CREBBP | c.7292C>A (p.Thr2431Lys) c.7178C>A (p.Thr2393Lys) c.7247C>A (p.Thr2416Lys) c.6875C>A (p.Thr2292Lys) c.7031C>A (p.Thr2344Lys) c.7238C>A (p.Thr2413Lys) c.6539C>A (p.Thr2180Lys) c.7286C>A (p.Thr2429Lys) | |
| 16 | g.3727756T>A | CA394550134 | CREBBP | c.7291A>T (p.Thr2431Ser) c.7177A>T (p.Thr2393Ser) c.7246A>T (p.Thr2416Ser) c.6874A>T (p.Thr2292Ser) c.7030A>T (p.Thr2344Ser) c.7237A>T (p.Thr2413Ser) c.6538A>T (p.Thr2180Ser) c.7285A>T (p.Thr2429Ser) | |
| 16 | g.3727756T>C | CA7868916 | CREBBP | c.7291A>G (p.Thr2431Ala) c.7177A>G (p.Thr2393Ala) c.7246A>G (p.Thr2416Ala) c.6874A>G (p.Thr2292Ala) c.7030A>G (p.Thr2344Ala) c.7237A>G (p.Thr2413Ala) c.6538A>G (p.Thr2180Ala) c.7285A>G (p.Thr2429Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.3727756T>G | CA394550135 | CREBBP | c.7291A>C (p.Thr2431Pro) c.7177A>C (p.Thr2393Pro) c.7246A>C (p.Thr2416Pro) c.6874A>C (p.Thr2292Pro) c.7030A>C (p.Thr2344Pro) c.7237A>C (p.Thr2413Pro) c.6538A>C (p.Thr2180Pro) c.7285A>C (p.Thr2429Pro) | dbSNP |
| 16 | g.3727756T= | CA2202928324 | CREBBP | c.7291A= (p.Thr2431=) c.7177A= (p.Thr2393=) c.7246A= (p.Thr2416=) c.6874A= (p.Thr2292=) c.7030A= (p.Thr2344=) c.7237A= (p.Thr2413=) c.6538A= (p.Thr2180=) c.7285A= (p.Thr2429=) | |
| 16 | g.3727757G>A | CA493393066 | CREBBP | c.7290C>T (p.Thr2430=) c.7176C>T (p.Thr2392=) c.7245C>T (p.Thr2415=) c.6873C>T (p.Thr2291=) c.7029C>T (p.Thr2343=) c.7236C>T (p.Thr2412=) c.6537C>T (p.Thr2179=) c.7284C>T (p.Thr2428=) | dbSNP gnomAD v4 |
| 16 | g.3727757G>C | CA493393067 | CREBBP | c.7290C>G (p.Thr2430=) c.7176C>G (p.Thr2392=) c.7245C>G (p.Thr2415=) c.6873C>G (p.Thr2291=) c.7029C>G (p.Thr2343=) c.7236C>G (p.Thr2412=) c.6537C>G (p.Thr2179=) c.7284C>G (p.Thr2428=) | dbSNP |