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.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.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.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 |
| 16 | g.3727757G= | CA2202928325 | CREBBP | c.7290C= (p.Thr2430=) c.7176C= (p.Thr2392=) c.7245C= (p.Thr2415=) c.6873C= (p.Thr2291=) c.7029C= (p.Thr2343=) c.7236C= (p.Thr2412=) c.6537C= (p.Thr2179=) c.7284C= (p.Thr2428=) | |
| 16 | g.3727757G>T | CA493393068 | CREBBP | c.7290C>A (p.Thr2430=) c.7176C>A (p.Thr2392=) c.7245C>A (p.Thr2415=) c.6873C>A (p.Thr2291=) c.7029C>A (p.Thr2343=) c.7236C>A (p.Thr2412=) c.6537C>A (p.Thr2179=) c.7284C>A (p.Thr2428=) | ClinVar dbSNP gnomAD v4 |
| 16 | g.3727758G>A | CA394550136 | CREBBP | c.7289C>T (p.Thr2430Ile) c.7175C>T (p.Thr2392Ile) c.7244C>T (p.Thr2415Ile) c.6872C>T (p.Thr2291Ile) c.7028C>T (p.Thr2343Ile) c.7235C>T (p.Thr2412Ile) c.6536C>T (p.Thr2179Ile) c.7283C>T (p.Thr2428Ile) | dbSNP |
| 16 | g.3727758G>C | CA394550137 | CREBBP | c.7289C>G (p.Thr2430Ser) c.7175C>G (p.Thr2392Ser) c.7244C>G (p.Thr2415Ser) c.6872C>G (p.Thr2291Ser) c.7028C>G (p.Thr2343Ser) c.7235C>G (p.Thr2412Ser) c.6536C>G (p.Thr2179Ser) c.7283C>G (p.Thr2428Ser) | dbSNP |
| 16 | g.3727758G>T | CA394550138 | CREBBP | c.7289C>A (p.Thr2430Asn) c.7175C>A (p.Thr2392Asn) c.7244C>A (p.Thr2415Asn) c.6872C>A (p.Thr2291Asn) c.7028C>A (p.Thr2343Asn) c.7235C>A (p.Thr2412Asn) c.6536C>A (p.Thr2179Asn) c.7283C>A (p.Thr2428Asn) | dbSNP |
| 16 | g.3727759T>A | CA394550139 | CREBBP | c.7288A>T (p.Thr2430Ser) c.7174A>T (p.Thr2392Ser) c.7243A>T (p.Thr2415Ser) c.6871A>T (p.Thr2291Ser) c.7027A>T (p.Thr2343Ser) c.7234A>T (p.Thr2412Ser) c.6535A>T (p.Thr2179Ser) c.7282A>T (p.Thr2428Ser) | dbSNP |
| 16 | g.3727759T>C | CA394550140 | CREBBP | c.7288A>G (p.Thr2430Ala) c.7174A>G (p.Thr2392Ala) c.7243A>G (p.Thr2415Ala) c.6871A>G (p.Thr2291Ala) c.7027A>G (p.Thr2343Ala) c.7234A>G (p.Thr2412Ala) c.6535A>G (p.Thr2179Ala) c.7282A>G (p.Thr2428Ala) | |
| 16 | g.3727759T>G | CA394550141 | CREBBP | c.7288A>C (p.Thr2430Pro) c.7174A>C (p.Thr2392Pro) c.7243A>C (p.Thr2415Pro) c.6871A>C (p.Thr2291Pro) c.7027A>C (p.Thr2343Pro) c.7234A>C (p.Thr2412Pro) c.6535A>C (p.Thr2179Pro) c.7282A>C (p.Thr2428Pro) | dbSNP |
| 16 | g.3727760G>A | CA493393073 | CREBBP | c.7287C>T (p.Asp2429=) c.7173C>T (p.Asp2391=) c.7242C>T (p.Asp2414=) c.6870C>T (p.Asp2290=) c.7026C>T (p.Asp2342=) c.7233C>T (p.Asp2411=) c.6534C>T (p.Asp2178=) c.7281C>T (p.Asp2427=) | dbSNP |
| 16 | g.3727760G>C | CA394550142 | CREBBP | c.7287C>G (p.Asp2429Glu) c.7173C>G (p.Asp2391Glu) c.7242C>G (p.Asp2414Glu) c.6870C>G (p.Asp2290Glu) c.7026C>G (p.Asp2342Glu) c.7233C>G (p.Asp2411Glu) c.6534C>G (p.Asp2178Glu) c.7281C>G (p.Asp2427Glu) | dbSNP |
| 16 | g.3727760G>T | CA394550143 | CREBBP | c.7287C>A (p.Asp2429Glu) c.7173C>A (p.Asp2391Glu) c.7242C>A (p.Asp2414Glu) c.6870C>A (p.Asp2290Glu) c.7026C>A (p.Asp2342Glu) c.7233C>A (p.Asp2411Glu) c.6534C>A (p.Asp2178Glu) c.7281C>A (p.Asp2427Glu) | |
| 16 | g.3727761T>A | CA394550144 | CREBBP | c.7286A>T (p.Asp2429Val) c.7172A>T (p.Asp2391Val) c.7241A>T (p.Asp2414Val) c.6869A>T (p.Asp2290Val) c.7025A>T (p.Asp2342Val) c.7232A>T (p.Asp2411Val) c.6533A>T (p.Asp2178Val) c.7280A>T (p.Asp2427Val) | |
| 16 | g.3727761T>C | CA394550145 | CREBBP | c.7286A>G (p.Asp2429Gly) c.7172A>G (p.Asp2391Gly) c.7241A>G (p.Asp2414Gly) c.6869A>G (p.Asp2290Gly) c.7025A>G (p.Asp2342Gly) c.7232A>G (p.Asp2411Gly) c.6533A>G (p.Asp2178Gly) c.7280A>G (p.Asp2427Gly) | |
| 16 | g.3727761T>G | CA394550146 | CREBBP | c.7286A>C (p.Asp2429Ala) c.7172A>C (p.Asp2391Ala) c.7241A>C (p.Asp2414Ala) c.6869A>C (p.Asp2290Ala) c.7025A>C (p.Asp2342Ala) c.7232A>C (p.Asp2411Ala) c.6533A>C (p.Asp2178Ala) c.7280A>C (p.Asp2427Ala) | |
| 16 | g.3727762C>A | CA394550149 | CREBBP | c.7285G>T (p.Asp2429Tyr) c.7171G>T (p.Asp2391Tyr) c.7240G>T (p.Asp2414Tyr) c.6868G>T (p.Asp2290Tyr) c.7024G>T (p.Asp2342Tyr) c.7231G>T (p.Asp2411Tyr) c.6532G>T (p.Asp2178Tyr) c.7279G>T (p.Asp2427Tyr) | dbSNP COSMIC |
| 16 | g.3727762C>G | CA394550148 | CREBBP | c.7285G>C (p.Asp2429His) c.7171G>C (p.Asp2391His) c.7240G>C (p.Asp2414His) c.6868G>C (p.Asp2290His) c.7024G>C (p.Asp2342His) c.7231G>C (p.Asp2411His) c.6532G>C (p.Asp2178His) c.7279G>C (p.Asp2427His) | dbSNP |
| 16 | g.3727762C>T | CA394550147 | CREBBP | c.7285G>A (p.Asp2429Asn) c.7171G>A (p.Asp2391Asn) c.7240G>A (p.Asp2414Asn) c.6868G>A (p.Asp2290Asn) c.7024G>A (p.Asp2342Asn) c.7231G>A (p.Asp2411Asn) c.6532G>A (p.Asp2178Asn) c.7279G>A (p.Asp2427Asn) | dbSNP COSMIC |
| 16 | g.3727763C>A | CA493393075 | CREBBP | c.7284G>T (p.Gly2428=) c.7170G>T (p.Gly2390=) c.7239G>T (p.Gly2413=) c.6867G>T (p.Gly2289=) c.7023G>T (p.Gly2341=) c.7230G>T (p.Gly2410=) c.6531G>T (p.Gly2177=) c.7278G>T (p.Gly2426=) | dbSNP |
| 16 | g.3727763C>G | CA493393076 | CREBBP | c.7284G>C (p.Gly2428=) c.7170G>C (p.Gly2390=) c.7239G>C (p.Gly2413=) c.6867G>C (p.Gly2289=) c.7023G>C (p.Gly2341=) c.7230G>C (p.Gly2410=) c.6531G>C (p.Gly2177=) c.7278G>C (p.Gly2426=) | |
| 16 | g.3727763C>T | CA493393077 | CREBBP | c.7284G>A (p.Gly2428=) c.7170G>A (p.Gly2390=) c.7239G>A (p.Gly2413=) c.6867G>A (p.Gly2289=) c.7023G>A (p.Gly2341=) c.7230G>A (p.Gly2410=) c.6531G>A (p.Gly2177=) c.7278G>A (p.Gly2426=) | dbSNP |
| 16 | g.3727764C>A | CA394550150 | CREBBP | c.7283G>T (p.Gly2428Val) c.7169G>T (p.Gly2390Val) c.7238G>T (p.Gly2413Val) c.6866G>T (p.Gly2289Val) c.7022G>T (p.Gly2341Val) c.7229G>T (p.Gly2410Val) c.6530G>T (p.Gly2177Val) c.7277G>T (p.Gly2426Val) | |
| 16 | g.3727764C>G | CA394550151 | CREBBP | c.7283G>C (p.Gly2428Ala) c.7169G>C (p.Gly2390Ala) c.7238G>C (p.Gly2413Ala) c.6866G>C (p.Gly2289Ala) c.7022G>C (p.Gly2341Ala) c.7229G>C (p.Gly2410Ala) c.6530G>C (p.Gly2177Ala) c.7277G>C (p.Gly2426Ala) | |
| 16 | g.3727764C>T | CA394550152 | CREBBP | c.7283G>A (p.Gly2428Glu) c.7169G>A (p.Gly2390Glu) c.7238G>A (p.Gly2413Glu) c.6866G>A (p.Gly2289Glu) c.7022G>A (p.Gly2341Glu) c.7229G>A (p.Gly2410Glu) c.6530G>A (p.Gly2177Glu) c.7277G>A (p.Gly2426Glu) | dbSNP |
| 16 | g.3727765C>A | CA394550153 | CREBBP | c.7282G>T (p.Gly2428Trp) c.7168G>T (p.Gly2390Trp) c.7237G>T (p.Gly2413Trp) c.6865G>T (p.Gly2289Trp) c.7021G>T (p.Gly2341Trp) c.7228G>T (p.Gly2410Trp) c.6529G>T (p.Gly2177Trp) c.7276G>T (p.Gly2426Trp) | |
| 16 | g.3727765C= | CA2202928326 | CREBBP | c.7282G= (p.Gly2428=) c.7168G= (p.Gly2390=) c.7237G= (p.Gly2413=) c.6865G= (p.Gly2289=) c.7021G= (p.Gly2341=) c.7228G= (p.Gly2410=) c.6529G= (p.Gly2177=) c.7276G= (p.Gly2426=) | |
| 16 | g.3727765C>G | CA394550154 | CREBBP | c.7282G>C (p.Gly2428Arg) c.7168G>C (p.Gly2390Arg) c.7237G>C (p.Gly2413Arg) c.6865G>C (p.Gly2289Arg) c.7021G>C (p.Gly2341Arg) c.7228G>C (p.Gly2410Arg) c.6529G>C (p.Gly2177Arg) c.7276G>C (p.Gly2426Arg) | ClinVar dbSNP gnomAD v4 |
| 16 | g.3727765C>T | CA7868917 | CREBBP | c.7282G>A (p.Gly2428Arg) c.7168G>A (p.Gly2390Arg) c.7237G>A (p.Gly2413Arg) c.6865G>A (p.Gly2289Arg) c.7021G>A (p.Gly2341Arg) c.7228G>A (p.Gly2410Arg) c.6529G>A (p.Gly2177Arg) c.7276G>A (p.Gly2426Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.3727766G>A | CA7868918 | CREBBP | c.7281C>T (p.Val2427=) c.7167C>T (p.Val2389=) c.7236C>T (p.Val2412=) c.6864C>T (p.Val2288=) c.7020C>T (p.Val2340=) c.7227C>T (p.Val2409=) c.6528C>T (p.Val2176=) c.7275C>T (p.Val2425=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 16 | g.3727766G>C | CA493393081 | CREBBP | c.7281C>G (p.Val2427=) c.7167C>G (p.Val2389=) c.7236C>G (p.Val2412=) c.6864C>G (p.Val2288=) c.7020C>G (p.Val2340=) c.7227C>G (p.Val2409=) c.6528C>G (p.Val2176=) c.7275C>G (p.Val2425=) | dbSNP |
| 16 | g.3727766G= | CA2202928327 | CREBBP | c.7281C= (p.Val2427=) c.7167C= (p.Val2389=) c.7236C= (p.Val2412=) c.6864C= (p.Val2288=) c.7020C= (p.Val2340=) c.7227C= (p.Val2409=) c.6528C= (p.Val2176=) c.7275C= (p.Val2425=) |