Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.3727963T>ACA394550567CREBBPc.7084A>T (p.Ser2362Cys)
c.6970A>T (p.Ser2324Cys)
c.7039A>T (p.Ser2347Cys)
c.6667A>T (p.Ser2223Cys)
c.6823A>T (p.Ser2275Cys)
c.7030A>T (p.Ser2344Cys)
c.6331A>T (p.Ser2111Cys)
c.7078A>T (p.Ser2360Cys)
16g.3727963T>CCA394550568CREBBPc.7084A>G (p.Ser2362Gly)
c.6970A>G (p.Ser2324Gly)
c.7039A>G (p.Ser2347Gly)
c.6667A>G (p.Ser2223Gly)
c.6823A>G (p.Ser2275Gly)
c.7030A>G (p.Ser2344Gly)
c.6331A>G (p.Ser2111Gly)
c.7078A>G (p.Ser2360Gly)
 gnomAD v4
16g.3727963T>GCA394550569CREBBPc.7084A>C (p.Ser2362Arg)
c.6970A>C (p.Ser2324Arg)
c.7039A>C (p.Ser2347Arg)
c.6667A>C (p.Ser2223Arg)
c.6823A>C (p.Ser2275Arg)
c.7030A>C (p.Ser2344Arg)
c.6331A>C (p.Ser2111Arg)
c.7078A>C (p.Ser2360Arg)
16g.3727964G>ACA493393358CREBBPc.7083C>T (p.Ser2361=)
c.6969C>T (p.Ser2323=)
c.7038C>T (p.Ser2346=)
c.6666C>T (p.Ser2222=)
c.6822C>T (p.Ser2274=)
c.7029C>T (p.Ser2343=)
c.6330C>T (p.Ser2110=)
c.7077C>T (p.Ser2359=)
16g.3727964G>CCA493393359CREBBPc.7083C>G (p.Ser2361=)
c.6969C>G (p.Ser2323=)
c.7038C>G (p.Ser2346=)
c.6666C>G (p.Ser2222=)
c.6822C>G (p.Ser2274=)
c.7029C>G (p.Ser2343=)
c.6330C>G (p.Ser2110=)
c.7077C>G (p.Ser2359=)
16g.3727964G>TCA493393361CREBBPc.7083C>A (p.Ser2361=)
c.6969C>A (p.Ser2323=)
c.7038C>A (p.Ser2346=)
c.6666C>A (p.Ser2222=)
c.6822C>A (p.Ser2274=)
c.7029C>A (p.Ser2343=)
c.6330C>A (p.Ser2110=)
c.7077C>A (p.Ser2359=)
16g.3727965G>ACA394550572CREBBPc.7082C>T (p.Ser2361Phe)
c.6968C>T (p.Ser2323Phe)
c.7037C>T (p.Ser2346Phe)
c.6665C>T (p.Ser2222Phe)
c.6821C>T (p.Ser2274Phe)
c.7028C>T (p.Ser2343Phe)
c.6329C>T (p.Ser2110Phe)
c.7076C>T (p.Ser2359Phe)
 dbSNP COSMIC
16g.3727965G>CCA394550570CREBBPc.7082C>G (p.Ser2361Cys)
c.6968C>G (p.Ser2323Cys)
c.7037C>G (p.Ser2346Cys)
c.6665C>G (p.Ser2222Cys)
c.6821C>G (p.Ser2274Cys)
c.7028C>G (p.Ser2343Cys)
c.6329C>G (p.Ser2110Cys)
c.7076C>G (p.Ser2359Cys)
 ClinVar dbSNP
16g.3727965G>TCA394550571CREBBPc.7082C>A (p.Ser2361Tyr)
c.6968C>A (p.Ser2323Tyr)
c.7037C>A (p.Ser2346Tyr)
c.6665C>A (p.Ser2222Tyr)
c.6821C>A (p.Ser2274Tyr)
c.7028C>A (p.Ser2343Tyr)
c.6329C>A (p.Ser2110Tyr)
c.7076C>A (p.Ser2359Tyr)
 dbSNP
16g.3727966A>CCA394550573CREBBPc.7081T>G (p.Ser2361Ala)
c.6967T>G (p.Ser2323Ala)
c.7036T>G (p.Ser2346Ala)
c.6664T>G (p.Ser2222Ala)
c.6820T>G (p.Ser2274Ala)
c.7027T>G (p.Ser2343Ala)
c.6328T>G (p.Ser2110Ala)
c.7075T>G (p.Ser2359Ala)
16g.3727966A>GCA394550574CREBBPc.7081T>C (p.Ser2361Pro)
c.6967T>C (p.Ser2323Pro)
c.7036T>C (p.Ser2346Pro)
c.6664T>C (p.Ser2222Pro)
c.6820T>C (p.Ser2274Pro)
c.7027T>C (p.Ser2343Pro)
c.6328T>C (p.Ser2110Pro)
c.7075T>C (p.Ser2359Pro)
 dbSNP
16g.3727966A>TCA394550575CREBBPc.7081T>A (p.Ser2361Thr)
c.6967T>A (p.Ser2323Thr)
c.7036T>A (p.Ser2346Thr)
c.6664T>A (p.Ser2222Thr)
c.6820T>A (p.Ser2274Thr)
c.7027T>A (p.Ser2343Thr)
c.6328T>A (p.Ser2110Thr)
c.7075T>A (p.Ser2359Thr)
16g.3727967A=CA2202928424CREBBPc.7080T= (p.His2360=)
c.6966T= (p.His2322=)
c.7035T= (p.His2345=)
c.6663T= (p.His2221=)
c.6819T= (p.His2273=)
c.7026T= (p.His2342=)
c.6327T= (p.His2109=)
c.7074T= (p.His2358=)
16g.3727967A>CCA394550576CREBBPc.7080T>G (p.His2360Gln)
c.6966T>G (p.His2322Gln)
c.7035T>G (p.His2345Gln)
c.6663T>G (p.His2221Gln)
c.6819T>G (p.His2273Gln)
c.7026T>G (p.His2342Gln)
c.6327T>G (p.His2109Gln)
c.7074T>G (p.His2358Gln)
16g.3727967A>GCA493393364CREBBPc.7080T>C (p.His2360=)
c.6966T>C (p.His2322=)
c.7035T>C (p.His2345=)
c.6663T>C (p.His2221=)
c.6819T>C (p.His2273=)
c.7026T>C (p.His2342=)
c.6327T>C (p.His2109=)
c.7074T>C (p.His2358=)
 dbSNP gnomAD v4
16g.3727967A>TCA394550577CREBBPc.7080T>A (p.His2360Gln)
c.6966T>A (p.His2322Gln)
c.7035T>A (p.His2345Gln)
c.6663T>A (p.His2221Gln)
c.6819T>A (p.His2273Gln)
c.7026T>A (p.His2342Gln)
c.6327T>A (p.His2109Gln)
c.7074T>A (p.His2358Gln)
 dbSNP
16g.3727968T>ACA394550580CREBBPc.7079A>T (p.His2360Leu)
c.6965A>T (p.His2322Leu)
c.7034A>T (p.His2345Leu)
c.6662A>T (p.His2221Leu)
c.6818A>T (p.His2273Leu)
c.7025A>T (p.His2342Leu)
c.6326A>T (p.His2109Leu)
c.7073A>T (p.His2358Leu)
 dbSNP
16g.3727968T>CCA394550578CREBBPc.7079A>G (p.His2360Arg)
c.6965A>G (p.His2322Arg)
c.7034A>G (p.His2345Arg)
c.6662A>G (p.His2221Arg)
c.6818A>G (p.His2273Arg)
c.7025A>G (p.His2342Arg)
c.6326A>G (p.His2109Arg)
c.7073A>G (p.His2358Arg)
16g.3727968T>GCA394550579CREBBPc.7079A>C (p.His2360Pro)
c.6965A>C (p.His2322Pro)
c.7034A>C (p.His2345Pro)
c.6662A>C (p.His2221Pro)
c.6818A>C (p.His2273Pro)
c.7025A>C (p.His2342Pro)
c.6326A>C (p.His2109Pro)
c.7073A>C (p.His2358Pro)
 dbSNP
16g.3727968_3727989delinsTGTGGAGGCTGGGACTGGGGCCCA2202928425CREBBPc.7058_7079delinsGGCCCCAGTCCCAGCCTCCACA (p.Arg2353=)
c.6944_6965delinsGGCCCCAGTCCCAGCCTCCACA (p.Arg2315=)
c.7013_7034delinsGGCCCCAGTCCCAGCCTCCACA (p.Arg2338=)
c.6641_6662delinsGGCCCCAGTCCCAGCCTCCACA (p.Arg2214=)
c.6797_6818delinsGGCCCCAGTCCCAGCCTCCACA (p.Arg2266=)
c.7004_7025delinsGGCCCCAGTCCCAGCCTCCACA (p.Arg2335=)
c.6305_6326delinsGGCCCCAGTCCCAGCCTCCACA (p.Arg2102=)
c.7052_7073delinsGGCCCCAGTCCCAGCCTCCACA (p.Arg2351=)
16g.3727969G>ACA394550581CREBBPc.7078C>T (p.His2360Tyr)
c.6964C>T (p.His2322Tyr)
c.7033C>T (p.His2345Tyr)
c.6661C>T (p.His2221Tyr)
c.6817C>T (p.His2273Tyr)
c.7024C>T (p.His2342Tyr)
c.6325C>T (p.His2109Tyr)
c.7072C>T (p.His2358Tyr)
 dbSNP gnomAD v4
16g.3727969G>CCA394550582CREBBPc.7078C>G (p.His2360Asp)
c.6964C>G (p.His2322Asp)
c.7033C>G (p.His2345Asp)
c.6661C>G (p.His2221Asp)
c.6817C>G (p.His2273Asp)
c.7024C>G (p.His2342Asp)
c.6325C>G (p.His2109Asp)
c.7072C>G (p.His2358Asp)
16g.3727969G=CA2202928427CREBBPc.7078C= (p.His2360=)
c.6964C= (p.His2322=)
c.7033C= (p.His2345=)
c.6661C= (p.His2221=)
c.6817C= (p.His2273=)
c.7024C= (p.His2342=)
c.6325C= (p.His2109=)
c.7072C= (p.His2358=)
16g.3727969G>TCA394550583CREBBPc.7078C>A (p.His2360Asn)
c.6964C>A (p.His2322Asn)
c.7033C>A (p.His2345Asn)
c.6661C>A (p.His2221Asn)
c.6817C>A (p.His2273Asn)
c.7024C>A (p.His2342Asn)
c.6325C>A (p.His2109Asn)
c.7072C>A (p.His2358Asn)
16g.3727975_3727995dupCA2202928426CREBBPc.7058_7078dup (p.Pro2359_His2360insArgProGlnSerGlnProPro)
c.6944_6964dup (p.Pro2321_His2322insArgProGlnSerGlnProPro)
c.7013_7033dup (p.Pro2344_His2345insArgProGlnSerGlnProPro)
c.6641_6661dup (p.Pro2220_His2221insArgProGlnSerGlnProPro)
c.6797_6817dup (p.Pro2272_His2273insArgProGlnSerGlnProPro)
c.7004_7024dup (p.Pro2341_His2342insArgProGlnSerGlnProPro)
c.6305_6325dup (p.Pro2108_His2109insArgProGlnSerGlnProPro)
c.7052_7072dup (p.Pro2357_His2358insArgProGlnSerGlnProPro)
 dbSNP
16g.3727975_3727995delCA7868955CREBBPc.7058_7078del (p.Arg2353_Pro2359del)
c.6944_6964del (p.Arg2315_Pro2321del)
c.7013_7033del (p.Arg2338_Pro2344del)
c.6641_6661del (p.Arg2214_Pro2220del)
c.6797_6817del (p.Arg2266_Pro2272del)
c.7004_7024del (p.Arg2335_Pro2341del)
c.6305_6325del (p.Arg2102_Pro2108del)
c.7052_7072del (p.Arg2351_Pro2357del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3727970T>ACA493393368CREBBPc.7077A>T (p.Pro2359=)
c.6963A>T (p.Pro2321=)
c.7032A>T (p.Pro2344=)
c.6660A>T (p.Pro2220=)
c.6816A>T (p.Pro2272=)
c.7023A>T (p.Pro2341=)
c.6324A>T (p.Pro2108=)
c.7071A>T (p.Pro2357=)
16g.3727970T>CCA493393369CREBBPc.7077A>G (p.Pro2359=)
c.6963A>G (p.Pro2321=)
c.7032A>G (p.Pro2344=)
c.6660A>G (p.Pro2220=)
c.6816A>G (p.Pro2272=)
c.7023A>G (p.Pro2341=)
c.6324A>G (p.Pro2108=)
c.7071A>G (p.Pro2357=)
16g.3727970T>GCA493393370CREBBPc.7077A>C (p.Pro2359=)
c.6963A>C (p.Pro2321=)
c.7032A>C (p.Pro2344=)
c.6660A>C (p.Pro2220=)
c.6816A>C (p.Pro2272=)
c.7023A>C (p.Pro2341=)
c.6324A>C (p.Pro2108=)
c.7071A>C (p.Pro2357=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.3727970T=CA2202928428CREBBPc.7077A= (p.Pro2359=)
c.6963A= (p.Pro2321=)
c.7032A= (p.Pro2344=)
c.6660A= (p.Pro2220=)
c.6816A= (p.Pro2272=)
c.7023A= (p.Pro2341=)
c.6324A= (p.Pro2108=)
c.7071A= (p.Pro2357=)
16g.3727971G>ACA394550584CREBBPc.7076C>T (p.Pro2359Leu)
c.6962C>T (p.Pro2321Leu)
c.7031C>T (p.Pro2344Leu)
c.6659C>T (p.Pro2220Leu)
c.6815C>T (p.Pro2272Leu)
c.7022C>T (p.Pro2341Leu)
c.6323C>T (p.Pro2108Leu)
c.7070C>T (p.Pro2357Leu)
 dbSNP gnomAD v4
16g.3727971G>CCA394550585CREBBPc.7076C>G (p.Pro2359Arg)
c.6962C>G (p.Pro2321Arg)
c.7031C>G (p.Pro2344Arg)
c.6659C>G (p.Pro2220Arg)
c.6815C>G (p.Pro2272Arg)
c.7022C>G (p.Pro2341Arg)
c.6323C>G (p.Pro2108Arg)
c.7070C>G (p.Pro2357Arg)
 dbSNP
16g.3727971G>TCA394550587CREBBPc.7076C>A (p.Pro2359Gln)
c.6962C>A (p.Pro2321Gln)
c.7031C>A (p.Pro2344Gln)
c.6659C>A (p.Pro2220Gln)
c.6815C>A (p.Pro2272Gln)
c.7022C>A (p.Pro2341Gln)
c.6323C>A (p.Pro2108Gln)
c.7070C>A (p.Pro2357Gln)
16g.3727972G>ACA394550590CREBBPc.7075C>T (p.Pro2359Ser)
c.6961C>T (p.Pro2321Ser)
c.7030C>T (p.Pro2344Ser)
c.6658C>T (p.Pro2220Ser)
c.6814C>T (p.Pro2272Ser)
c.7021C>T (p.Pro2341Ser)
c.6322C>T (p.Pro2108Ser)
c.7069C>T (p.Pro2357Ser)
 dbSNP gnomAD v2 gnomAD v4
16g.3727972G>CCA394550592CREBBPc.7075C>G (p.Pro2359Ala)
c.6961C>G (p.Pro2321Ala)
c.7030C>G (p.Pro2344Ala)
c.6658C>G (p.Pro2220Ala)
c.6814C>G (p.Pro2272Ala)
c.7021C>G (p.Pro2341Ala)
c.6322C>G (p.Pro2108Ala)
c.7069C>G (p.Pro2357Ala)
 dbSNP
16g.3727972G=CA2202928429CREBBPc.7075C= (p.Pro2359=)
c.6961C= (p.Pro2321=)
c.7030C= (p.Pro2344=)
c.6658C= (p.Pro2220=)
c.6814C= (p.Pro2272=)
c.7021C= (p.Pro2341=)
c.6322C= (p.Pro2108=)
c.7069C= (p.Pro2357=)
16g.3727972G>TCA394550594CREBBPc.7075C>A (p.Pro2359Thr)
c.6961C>A (p.Pro2321Thr)
c.7030C>A (p.Pro2344Thr)
c.6658C>A (p.Pro2220Thr)
c.6814C>A (p.Pro2272Thr)
c.7021C>A (p.Pro2341Thr)
c.6322C>A (p.Pro2108Thr)
c.7069C>A (p.Pro2357Thr)
 dbSNP
16g.3727973A=CA2202928430CREBBPc.7074T= (p.Pro2358=)
c.6960T= (p.Pro2320=)
c.7029T= (p.Pro2343=)
c.6657T= (p.Pro2219=)
c.6813T= (p.Pro2271=)
c.7020T= (p.Pro2340=)
c.6321T= (p.Pro2107=)
c.7068T= (p.Pro2356=)
16g.3727973A>CCA493393376CREBBPc.7074T>G (p.Pro2358=)
c.6960T>G (p.Pro2320=)
c.7029T>G (p.Pro2343=)
c.6657T>G (p.Pro2219=)
c.6813T>G (p.Pro2271=)
c.7020T>G (p.Pro2340=)
c.6321T>G (p.Pro2107=)
c.7068T>G (p.Pro2356=)
16g.3727973A>GCA493393378CREBBPc.7074T>C (p.Pro2358=)
c.6960T>C (p.Pro2320=)
c.7029T>C (p.Pro2343=)
c.6657T>C (p.Pro2219=)
c.6813T>C (p.Pro2271=)
c.7020T>C (p.Pro2340=)
c.6321T>C (p.Pro2107=)
c.7068T>C (p.Pro2356=)
 dbSNP
16g.3727973A>TCA493393377CREBBPc.7074T>A (p.Pro2358=)
c.6960T>A (p.Pro2320=)
c.7029T>A (p.Pro2343=)
c.6657T>A (p.Pro2219=)
c.6813T>A (p.Pro2271=)
c.7020T>A (p.Pro2340=)
c.6321T>A (p.Pro2107=)
c.7068T>A (p.Pro2356=)
 dbSNP gnomAD v3 gnomAD v4
16g.3727974G>ACA394550595CREBBPc.7073C>T (p.Pro2358Leu)
c.6959C>T (p.Pro2320Leu)
c.7028C>T (p.Pro2343Leu)
c.6656C>T (p.Pro2219Leu)
c.6812C>T (p.Pro2271Leu)
c.7019C>T (p.Pro2340Leu)
c.6320C>T (p.Pro2107Leu)
c.7067C>T (p.Pro2356Leu)
16g.3727974G>CCA394550596CREBBPc.7073C>G (p.Pro2358Arg)
c.6959C>G (p.Pro2320Arg)
c.7028C>G (p.Pro2343Arg)
c.6656C>G (p.Pro2219Arg)
c.6812C>G (p.Pro2271Arg)
c.7019C>G (p.Pro2340Arg)
c.6320C>G (p.Pro2107Arg)
c.7067C>G (p.Pro2356Arg)
 dbSNP
16g.3727974G>TCA394550598CREBBPc.7073C>A (p.Pro2358His)
c.6959C>A (p.Pro2320His)
c.7028C>A (p.Pro2343His)
c.6656C>A (p.Pro2219His)
c.6812C>A (p.Pro2271His)
c.7019C>A (p.Pro2340His)
c.6320C>A (p.Pro2107His)
c.7067C>A (p.Pro2356His)
 dbSNP
16g.3727975G>ACA394550599CREBBPc.7072C>T (p.Pro2358Ser)
c.6958C>T (p.Pro2320Ser)
c.7027C>T (p.Pro2343Ser)
c.6655C>T (p.Pro2219Ser)
c.6811C>T (p.Pro2271Ser)
c.7018C>T (p.Pro2340Ser)
c.6319C>T (p.Pro2107Ser)
c.7066C>T (p.Pro2356Ser)
 dbSNP
16g.3727975G>CCA394550602CREBBPc.7072C>G (p.Pro2358Ala)
c.6958C>G (p.Pro2320Ala)
c.7027C>G (p.Pro2343Ala)
c.6655C>G (p.Pro2219Ala)
c.6811C>G (p.Pro2271Ala)
c.7018C>G (p.Pro2340Ala)
c.6319C>G (p.Pro2107Ala)
c.7066C>G (p.Pro2356Ala)
 dbSNP
16g.3727975G=CA2202928431CREBBPc.7072C= (p.Pro2358=)
c.6958C= (p.Pro2320=)
c.7027C= (p.Pro2343=)
c.6655C= (p.Pro2219=)
c.6811C= (p.Pro2271=)
c.7018C= (p.Pro2340=)
c.6319C= (p.Pro2107=)
c.7066C= (p.Pro2356=)
16g.3727975G>TCA394550601CREBBPc.7072C>A (p.Pro2358Thr)
c.6958C>A (p.Pro2320Thr)
c.7027C>A (p.Pro2343Thr)
c.6655C>A (p.Pro2219Thr)
c.6811C>A (p.Pro2271Thr)
c.7018C>A (p.Pro2340Thr)
c.6319C>A (p.Pro2107Thr)
c.7066C>A (p.Pro2356Thr)
 dbSNP gnomAD v2 gnomAD v4
16g.3727976C>ACA394550604CREBBPc.7071G>T (p.Gln2357His)
c.6957G>T (p.Gln2319His)
c.7026G>T (p.Gln2342His)
c.6654G>T (p.Gln2218His)
c.6810G>T (p.Gln2270His)
c.7017G>T (p.Gln2339His)
c.6318G>T (p.Gln2106His)
c.7065G>T (p.Gln2355His)
 dbSNP
16g.3727976C>GCA394550606CREBBPc.7071G>C (p.Gln2357His)
c.6957G>C (p.Gln2319His)
c.7026G>C (p.Gln2342His)
c.6654G>C (p.Gln2218His)
c.6810G>C (p.Gln2270His)
c.7017G>C (p.Gln2339His)
c.6318G>C (p.Gln2106His)
c.7065G>C (p.Gln2355His)
 dbSNP
16g.3727976C>TCA493393382CREBBPc.7071G>A (p.Gln2357=)
c.6957G>A (p.Gln2319=)
c.7026G>A (p.Gln2342=)
c.6654G>A (p.Gln2218=)
c.6810G>A (p.Gln2270=)
c.7017G>A (p.Gln2339=)
c.6318G>A (p.Gln2106=)
c.7065G>A (p.Gln2355=)
 dbSNP
16g.3727977T>ACA394550608CREBBPc.7070A>T (p.Gln2357Leu)
c.6956A>T (p.Gln2319Leu)
c.7025A>T (p.Gln2342Leu)
c.6653A>T (p.Gln2218Leu)
c.6809A>T (p.Gln2270Leu)
c.7016A>T (p.Gln2339Leu)
c.6317A>T (p.Gln2106Leu)
c.7064A>T (p.Gln2355Leu)
16g.3727977T>CCA394550609CREBBPc.7070A>G (p.Gln2357Arg)
c.6956A>G (p.Gln2319Arg)
c.7025A>G (p.Gln2342Arg)
c.6653A>G (p.Gln2218Arg)
c.6809A>G (p.Gln2270Arg)
c.7016A>G (p.Gln2339Arg)
c.6317A>G (p.Gln2106Arg)
c.7064A>G (p.Gln2355Arg)
16g.3727977T>GCA394550611CREBBPc.7070A>C (p.Gln2357Pro)
c.6956A>C (p.Gln2319Pro)
c.7025A>C (p.Gln2342Pro)
c.6653A>C (p.Gln2218Pro)
c.6809A>C (p.Gln2270Pro)
c.7016A>C (p.Gln2339Pro)
c.6317A>C (p.Gln2106Pro)
c.7064A>C (p.Gln2355Pro)
16g.3727978G>ACA394550614CREBBPc.7069C>T (p.Gln2357Ter)
c.6955C>T (p.Gln2319Ter)
c.7024C>T (p.Gln2342Ter)
c.6652C>T (p.Gln2218Ter)
c.6808C>T (p.Gln2270Ter)
c.7015C>T (p.Gln2339Ter)
c.6316C>T (p.Gln2106Ter)
c.7063C>T (p.Gln2355Ter)
16g.3727978G>CCA394550615CREBBPc.7069C>G (p.Gln2357Glu)
c.6955C>G (p.Gln2319Glu)
c.7024C>G (p.Gln2342Glu)
c.6652C>G (p.Gln2218Glu)
c.6808C>G (p.Gln2270Glu)
c.7015C>G (p.Gln2339Glu)
c.6316C>G (p.Gln2106Glu)
c.7063C>G (p.Gln2355Glu)
 gnomAD v4
16g.3727978G>TCA394550616CREBBPc.7069C>A (p.Gln2357Lys)
c.6955C>A (p.Gln2319Lys)
c.7024C>A (p.Gln2342Lys)
c.6652C>A (p.Gln2218Lys)
c.6808C>A (p.Gln2270Lys)
c.7015C>A (p.Gln2339Lys)
c.6316C>A (p.Gln2106Lys)
c.7063C>A (p.Gln2355Lys)
16g.3727979G>ACA493393384CREBBPc.7068C>T (p.Ser2356=)
c.6954C>T (p.Ser2318=)
c.7023C>T (p.Ser2341=)
c.6651C>T (p.Ser2217=)
c.6807C>T (p.Ser2269=)
c.7014C>T (p.Ser2338=)
c.6315C>T (p.Ser2105=)
c.7062C>T (p.Ser2354=)
 dbSNP gnomAD v4
16g.3727979G>CCA493393385CREBBPc.7068C>G (p.Ser2356=)
c.6954C>G (p.Ser2318=)
c.7023C>G (p.Ser2341=)
c.6651C>G (p.Ser2217=)
c.6807C>G (p.Ser2269=)
c.7014C>G (p.Ser2338=)
c.6315C>G (p.Ser2105=)
c.7062C>G (p.Ser2354=)
 dbSNP
16g.3727979G>TCA493393386CREBBPc.7068C>A (p.Ser2356=)
c.6954C>A (p.Ser2318=)
c.7023C>A (p.Ser2341=)
c.6651C>A (p.Ser2217=)
c.6807C>A (p.Ser2269=)
c.7014C>A (p.Ser2338=)
c.6315C>A (p.Ser2105=)
c.7062C>A (p.Ser2354=)
 dbSNP
16g.3727980G>ACA394550619CREBBPc.7067C>T (p.Ser2356Phe)
c.6953C>T (p.Ser2318Phe)
c.7022C>T (p.Ser2341Phe)
c.6650C>T (p.Ser2217Phe)
c.6806C>T (p.Ser2269Phe)
c.7013C>T (p.Ser2338Phe)
c.6314C>T (p.Ser2105Phe)
c.7061C>T (p.Ser2354Phe)
 dbSNP COSMIC
16g.3727980G>CCA394550620CREBBPc.7067C>G (p.Ser2356Cys)
c.6953C>G (p.Ser2318Cys)
c.7022C>G (p.Ser2341Cys)
c.6650C>G (p.Ser2217Cys)
c.6806C>G (p.Ser2269Cys)
c.7013C>G (p.Ser2338Cys)
c.6314C>G (p.Ser2105Cys)
c.7061C>G (p.Ser2354Cys)
 dbSNP
16g.3727980G>TCA394550621CREBBPc.7067C>A (p.Ser2356Tyr)
c.6953C>A (p.Ser2318Tyr)
c.7022C>A (p.Ser2341Tyr)
c.6650C>A (p.Ser2217Tyr)
c.6806C>A (p.Ser2269Tyr)
c.7013C>A (p.Ser2338Tyr)
c.6314C>A (p.Ser2105Tyr)
c.7061C>A (p.Ser2354Tyr)
16g.3727981A>CCA394550626CREBBPc.7066T>G (p.Ser2356Ala)
c.6952T>G (p.Ser2318Ala)
c.7021T>G (p.Ser2341Ala)
c.6649T>G (p.Ser2217Ala)
c.6805T>G (p.Ser2269Ala)
c.7012T>G (p.Ser2338Ala)
c.6313T>G (p.Ser2105Ala)
c.7060T>G (p.Ser2354Ala)
 dbSNP
16g.3727981A>GCA394550625CREBBPc.7066T>C (p.Ser2356Pro)
c.6952T>C (p.Ser2318Pro)
c.7021T>C (p.Ser2341Pro)
c.6649T>C (p.Ser2217Pro)
c.6805T>C (p.Ser2269Pro)
c.7012T>C (p.Ser2338Pro)
c.6313T>C (p.Ser2105Pro)
c.7060T>C (p.Ser2354Pro)
 dbSNP COSMIC
16g.3727981A>TCA394550623CREBBPc.7066T>A (p.Ser2356Thr)
c.6952T>A (p.Ser2318Thr)
c.7021T>A (p.Ser2341Thr)
c.6649T>A (p.Ser2217Thr)
c.6805T>A (p.Ser2269Thr)
c.7012T>A (p.Ser2338Thr)
c.6313T>A (p.Ser2105Thr)
c.7060T>A (p.Ser2354Thr)
 dbSNP
16g.3727982C>ACA394550628CREBBPc.7065G>T (p.Gln2355His)
c.6951G>T (p.Gln2317His)
c.7020G>T (p.Gln2340His)
c.6648G>T (p.Gln2216His)
c.6804G>T (p.Gln2268His)
c.7011G>T (p.Gln2337His)
c.6312G>T (p.Gln2104His)
c.7059G>T (p.Gln2353His)
 dbSNP gnomAD v4
16g.3727982C>GCA394550630CREBBPc.7065G>C (p.Gln2355His)
c.6951G>C (p.Gln2317His)
c.7020G>C (p.Gln2340His)
c.6648G>C (p.Gln2216His)
c.6804G>C (p.Gln2268His)
c.7011G>C (p.Gln2337His)
c.6312G>C (p.Gln2104His)
c.7059G>C (p.Gln2353His)
 dbSNP gnomAD v4
16g.3727982C>TCA493393388CREBBPc.7065G>A (p.Gln2355=)
c.6951G>A (p.Gln2317=)
c.7020G>A (p.Gln2340=)
c.6648G>A (p.Gln2216=)
c.6804G>A (p.Gln2268=)
c.7011G>A (p.Gln2337=)
c.6312G>A (p.Gln2104=)
c.7059G>A (p.Gln2353=)
 dbSNP
16g.3727983T>ACA394550631CREBBPc.7064A>T (p.Gln2355Leu)
c.6950A>T (p.Gln2317Leu)
c.7019A>T (p.Gln2340Leu)
c.6647A>T (p.Gln2216Leu)
c.6803A>T (p.Gln2268Leu)
c.7010A>T (p.Gln2337Leu)
c.6311A>T (p.Gln2104Leu)
c.7058A>T (p.Gln2353Leu)
16g.3727983T>CCA394550633CREBBPc.7064A>G (p.Gln2355Arg)
c.6950A>G (p.Gln2317Arg)
c.7019A>G (p.Gln2340Arg)
c.6647A>G (p.Gln2216Arg)
c.6803A>G (p.Gln2268Arg)
c.7010A>G (p.Gln2337Arg)
c.6311A>G (p.Gln2104Arg)
c.7058A>G (p.Gln2353Arg)
 dbSNP
16g.3727983T>GCA394550635CREBBPc.7064A>C (p.Gln2355Pro)
c.6950A>C (p.Gln2317Pro)
c.7019A>C (p.Gln2340Pro)
c.6647A>C (p.Gln2216Pro)
c.6803A>C (p.Gln2268Pro)
c.7010A>C (p.Gln2337Pro)
c.6311A>C (p.Gln2104Pro)
c.7058A>C (p.Gln2353Pro)
 dbSNP
16g.3727984G>ACA394550637CREBBPc.7063C>T (p.Gln2355Ter)
c.6949C>T (p.Gln2317Ter)
c.7018C>T (p.Gln2340Ter)
c.6646C>T (p.Gln2216Ter)
c.6802C>T (p.Gln2268Ter)
c.7009C>T (p.Gln2337Ter)
c.6310C>T (p.Gln2104Ter)
c.7057C>T (p.Gln2353Ter)
 ClinVar dbSNP
16g.3727984G>CCA394550639CREBBPc.7063C>G (p.Gln2355Glu)
c.6949C>G (p.Gln2317Glu)
c.7018C>G (p.Gln2340Glu)
c.6646C>G (p.Gln2216Glu)
c.6802C>G (p.Gln2268Glu)
c.7009C>G (p.Gln2337Glu)
c.6310C>G (p.Gln2104Glu)
c.7057C>G (p.Gln2353Glu)
 dbSNP
16g.3727984G=CA2202928432CREBBPc.7063C= (p.Gln2355=)
c.6949C= (p.Gln2317=)
c.7018C= (p.Gln2340=)
c.6646C= (p.Gln2216=)
c.6802C= (p.Gln2268=)
c.7009C= (p.Gln2337=)
c.6310C= (p.Gln2104=)
c.7057C= (p.Gln2353=)
16g.3727984G>TCA394550640CREBBPc.7063C>A (p.Gln2355Lys)
c.6949C>A (p.Gln2317Lys)
c.7018C>A (p.Gln2340Lys)
c.6646C>A (p.Gln2216Lys)
c.6802C>A (p.Gln2268Lys)
c.7009C>A (p.Gln2337Lys)
c.6310C>A (p.Gln2104Lys)
c.7057C>A (p.Gln2353Lys)
 dbSNP gnomAD v2 gnomAD v4
16g.3727985_3727990dupCA2575893802CREBBPc.7058_7063dup (p.Pro2354_Gln2355insArgPro)
c.6944_6949dup (p.Pro2316_Gln2317insArgPro)
c.7013_7018dup (p.Pro2339_Gln2340insArgPro)
c.6641_6646dup (p.Pro2215_Gln2216insArgPro)
c.6797_6802dup (p.Pro2267_Gln2268insArgPro)
c.7004_7009dup (p.Pro2336_Gln2337insArgPro)
c.6305_6310dup (p.Pro2103_Gln2104insArgPro)
c.7052_7057dup (p.Pro2352_Gln2353insArgPro)
16g.3727985G>ACA7868956CREBBPc.7062C>T (p.Pro2354=)
c.6948C>T (p.Pro2316=)
c.7017C>T (p.Pro2339=)
c.6645C>T (p.Pro2215=)
c.6801C>T (p.Pro2267=)
c.7008C>T (p.Pro2336=)
c.6309C>T (p.Pro2103=)
c.7056C>T (p.Pro2352=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.3727985G>CCA493393389CREBBPc.7062C>G (p.Pro2354=)
c.6948C>G (p.Pro2316=)
c.7017C>G (p.Pro2339=)
c.6645C>G (p.Pro2215=)
c.6801C>G (p.Pro2267=)
c.7008C>G (p.Pro2336=)
c.6309C>G (p.Pro2103=)
c.7056C>G (p.Pro2352=)
 dbSNP
16g.3727985G=CA2202928433CREBBPc.7062C= (p.Pro2354=)
c.6948C= (p.Pro2316=)
c.7017C= (p.Pro2339=)
c.6645C= (p.Pro2215=)
c.6801C= (p.Pro2267=)
c.7008C= (p.Pro2336=)
c.6309C= (p.Pro2103=)
c.7056C= (p.Pro2352=)
16g.3727985G>TCA493393391CREBBPc.7062C>A (p.Pro2354=)
c.6948C>A (p.Pro2316=)
c.7017C>A (p.Pro2339=)
c.6645C>A (p.Pro2215=)
c.6801C>A (p.Pro2267=)
c.7008C>A (p.Pro2336=)
c.6309C>A (p.Pro2103=)
c.7056C>A (p.Pro2352=)
 dbSNP
16g.3727986G>ACA394550643CREBBPc.7061C>T (p.Pro2354Leu)
c.6947C>T (p.Pro2316Leu)
c.7016C>T (p.Pro2339Leu)
c.6644C>T (p.Pro2215Leu)
c.6800C>T (p.Pro2267Leu)
c.7007C>T (p.Pro2336Leu)
c.6308C>T (p.Pro2103Leu)
c.7055C>T (p.Pro2352Leu)
 dbSNP
16g.3727986G>CCA394550645CREBBPc.7061C>G (p.Pro2354Arg)
c.6947C>G (p.Pro2316Arg)
c.7016C>G (p.Pro2339Arg)
c.6644C>G (p.Pro2215Arg)
c.6800C>G (p.Pro2267Arg)
c.7007C>G (p.Pro2336Arg)
c.6308C>G (p.Pro2103Arg)
c.7055C>G (p.Pro2352Arg)
 dbSNP
16g.3727986G>TCA394550647CREBBPc.7061C>A (p.Pro2354His)
c.6947C>A (p.Pro2316His)
c.7016C>A (p.Pro2339His)
c.6644C>A (p.Pro2215His)
c.6800C>A (p.Pro2267His)
c.7007C>A (p.Pro2336His)
c.6308C>A (p.Pro2103His)
c.7055C>A (p.Pro2352His)
 dbSNP
16g.3727987G>ACA394550649CREBBPc.7060C>T (p.Pro2354Ser)
c.6946C>T (p.Pro2316Ser)
c.7015C>T (p.Pro2339Ser)
c.6643C>T (p.Pro2215Ser)
c.6799C>T (p.Pro2267Ser)
c.7006C>T (p.Pro2336Ser)
c.6307C>T (p.Pro2103Ser)
c.7054C>T (p.Pro2352Ser)
16g.3727987G>CCA394550653CREBBPc.7060C>G (p.Pro2354Ala)
c.6946C>G (p.Pro2316Ala)
c.7015C>G (p.Pro2339Ala)
c.6643C>G (p.Pro2215Ala)
c.6799C>G (p.Pro2267Ala)
c.7006C>G (p.Pro2336Ala)
c.6307C>G (p.Pro2103Ala)
c.7054C>G (p.Pro2352Ala)
16g.3727987G>TCA394550651CREBBPc.7060C>A (p.Pro2354Thr)
c.6946C>A (p.Pro2316Thr)
c.7015C>A (p.Pro2339Thr)
c.6643C>A (p.Pro2215Thr)
c.6799C>A (p.Pro2267Thr)
c.7006C>A (p.Pro2336Thr)
c.6307C>A (p.Pro2103Thr)
c.7054C>A (p.Pro2352Thr)
16g.3727988C>ACA493393394CREBBPc.7059G>T (p.Arg2353=)
c.6945G>T (p.Arg2315=)
c.7014G>T (p.Arg2338=)
c.6642G>T (p.Arg2214=)
c.6798G>T (p.Arg2266=)
c.7005G>T (p.Arg2335=)
c.6306G>T (p.Arg2102=)
c.7053G>T (p.Arg2351=)
 dbSNP COSMIC
16g.3727988C>GCA493393395CREBBPc.7059G>C (p.Arg2353=)
c.6945G>C (p.Arg2315=)
c.7014G>C (p.Arg2338=)
c.6642G>C (p.Arg2214=)
c.6798G>C (p.Arg2266=)
c.7005G>C (p.Arg2335=)
c.6306G>C (p.Arg2102=)
c.7053G>C (p.Arg2351=)
 dbSNP
16g.3727988C>TCA493393396CREBBPc.7059G>A (p.Arg2353=)
c.6945G>A (p.Arg2315=)
c.7014G>A (p.Arg2338=)
c.6642G>A (p.Arg2214=)
c.6798G>A (p.Arg2266=)
c.7005G>A (p.Arg2335=)
c.6306G>A (p.Arg2102=)
c.7053G>A (p.Arg2351=)
 dbSNP
16g.3727989C>ACA394550655CREBBPc.7058G>T (p.Arg2353Leu)
c.6944G>T (p.Arg2315Leu)
c.7013G>T (p.Arg2338Leu)
c.6641G>T (p.Arg2214Leu)
c.6797G>T (p.Arg2266Leu)
c.7004G>T (p.Arg2335Leu)
c.6305G>T (p.Arg2102Leu)
c.7052G>T (p.Arg2351Leu)
 dbSNP gnomAD v4
16g.3727989C=CA2202928434CREBBPc.7058G= (p.Arg2353=)
c.6944G= (p.Arg2315=)
c.7013G= (p.Arg2338=)
c.6641G= (p.Arg2214=)
c.6797G= (p.Arg2266=)
c.7004G= (p.Arg2335=)
c.6305G= (p.Arg2102=)
c.7052G= (p.Arg2351=)
16g.3727989C>GCA394550657CREBBPc.7058G>C (p.Arg2353Pro)
c.6944G>C (p.Arg2315Pro)
c.7013G>C (p.Arg2338Pro)
c.6641G>C (p.Arg2214Pro)
c.6797G>C (p.Arg2266Pro)
c.7004G>C (p.Arg2335Pro)
c.6305G>C (p.Arg2102Pro)
c.7052G>C (p.Arg2351Pro)
 dbSNP gnomAD v4
16g.3727989C>TCA394550659CREBBPc.7058G>A (p.Arg2353Gln)
c.6944G>A (p.Arg2315Gln)
c.7013G>A (p.Arg2338Gln)
c.6641G>A (p.Arg2214Gln)
c.6797G>A (p.Arg2266Gln)
c.7004G>A (p.Arg2335Gln)
c.6305G>A (p.Arg2102Gln)
c.7052G>A (p.Arg2351Gln)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.3727990G>ACA7868957CREBBPc.7057C>T (p.Arg2353Trp)
c.6943C>T (p.Arg2315Trp)
c.7012C>T (p.Arg2338Trp)
c.6640C>T (p.Arg2214Trp)
c.6796C>T (p.Arg2266Trp)
c.7003C>T (p.Arg2335Trp)
c.6304C>T (p.Arg2102Trp)
c.7051C>T (p.Arg2351Trp)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.3727990G>CCA394550662CREBBPc.7057C>G (p.Arg2353Gly)
c.6943C>G (p.Arg2315Gly)
c.7012C>G (p.Arg2338Gly)
c.6640C>G (p.Arg2214Gly)
c.6796C>G (p.Arg2266Gly)
c.7003C>G (p.Arg2335Gly)
c.6304C>G (p.Arg2102Gly)
c.7051C>G (p.Arg2351Gly)
 dbSNP
16g.3727990G=CA2202928435CREBBPc.7057C= (p.Arg2353=)
c.6943C= (p.Arg2315=)
c.7012C= (p.Arg2338=)
c.6640C= (p.Arg2214=)
c.6796C= (p.Arg2266=)
c.7003C= (p.Arg2335=)
c.6304C= (p.Arg2102=)
c.7051C= (p.Arg2351=)
16g.3727990G>TCA493393399CREBBPc.7057C>A (p.Arg2353=)
c.6943C>A (p.Arg2315=)
c.7012C>A (p.Arg2338=)
c.6640C>A (p.Arg2214=)
c.6796C>A (p.Arg2266=)
c.7003C>A (p.Arg2335=)
c.6304C>A (p.Arg2102=)
c.7051C>A (p.Arg2351=)
 gnomAD v4
16g.3727991T>ACA493393400CREBBPc.7056A>T (p.Pro2352=)
c.6942A>T (p.Pro2314=)
c.7011A>T (p.Pro2337=)
c.6639A>T (p.Pro2213=)
c.6795A>T (p.Pro2265=)
c.7002A>T (p.Pro2334=)
c.6303A>T (p.Pro2101=)
c.7050A>T (p.Pro2350=)
16g.3727991T>CCA493393401CREBBPc.7056A>G (p.Pro2352=)
c.6942A>G (p.Pro2314=)
c.7011A>G (p.Pro2337=)
c.6639A>G (p.Pro2213=)
c.6795A>G (p.Pro2265=)
c.7002A>G (p.Pro2334=)
c.6303A>G (p.Pro2101=)
c.7050A>G (p.Pro2350=)
16g.3727991T>GCA493393402CREBBPc.7056A>C (p.Pro2352=)
c.6942A>C (p.Pro2314=)
c.7011A>C (p.Pro2337=)
c.6639A>C (p.Pro2213=)
c.6795A>C (p.Pro2265=)
c.7002A>C (p.Pro2334=)
c.6303A>C (p.Pro2101=)
c.7050A>C (p.Pro2350=)
16g.3727992G>ACA394550664CREBBPc.7055C>T (p.Pro2352Leu)
c.6941C>T (p.Pro2314Leu)
c.7010C>T (p.Pro2337Leu)
c.6638C>T (p.Pro2213Leu)
c.6794C>T (p.Pro2265Leu)
c.7001C>T (p.Pro2334Leu)
c.6302C>T (p.Pro2101Leu)
c.7049C>T (p.Pro2350Leu)
16g.3727992G>CCA394550666CREBBPc.7055C>G (p.Pro2352Arg)
c.6941C>G (p.Pro2314Arg)
c.7010C>G (p.Pro2337Arg)
c.6638C>G (p.Pro2213Arg)
c.6794C>G (p.Pro2265Arg)
c.7001C>G (p.Pro2334Arg)
c.6302C>G (p.Pro2101Arg)
c.7049C>G (p.Pro2350Arg)
16g.3727992G>TCA394550667CREBBPc.7055C>A (p.Pro2352Gln)
c.6941C>A (p.Pro2314Gln)
c.7010C>A (p.Pro2337Gln)
c.6638C>A (p.Pro2213Gln)
c.6794C>A (p.Pro2265Gln)
c.7001C>A (p.Pro2334Gln)
c.6302C>A (p.Pro2101Gln)
c.7049C>A (p.Pro2350Gln)
16g.3727993G>ACA394550668CREBBPc.7054C>T (p.Pro2352Ser)
c.6940C>T (p.Pro2314Ser)
c.7009C>T (p.Pro2337Ser)
c.6637C>T (p.Pro2213Ser)
c.6793C>T (p.Pro2265Ser)
c.7000C>T (p.Pro2334Ser)
c.6301C>T (p.Pro2101Ser)
c.7048C>T (p.Pro2350Ser)
 dbSNP
16g.3727993G>CCA394550669CREBBPc.7054C>G (p.Pro2352Ala)
c.6940C>G (p.Pro2314Ala)
c.7009C>G (p.Pro2337Ala)
c.6637C>G (p.Pro2213Ala)
c.6793C>G (p.Pro2265Ala)
c.7000C>G (p.Pro2334Ala)
c.6301C>G (p.Pro2101Ala)
c.7048C>G (p.Pro2350Ala)
 dbSNP
16g.3727993G>TCA394550671CREBBPc.7054C>A (p.Pro2352Thr)
c.6940C>A (p.Pro2314Thr)
c.7009C>A (p.Pro2337Thr)
c.6637C>A (p.Pro2213Thr)
c.6793C>A (p.Pro2265Thr)
c.7000C>A (p.Pro2334Thr)
c.6301C>A (p.Pro2101Thr)
c.7048C>A (p.Pro2350Thr)
 dbSNP
16g.3727994A=CA2202928436CREBBPc.7053T= (p.Ser2351=)
c.6939T= (p.Ser2313=)
c.7008T= (p.Ser2336=)
c.6636T= (p.Ser2212=)
c.6792T= (p.Ser2264=)
c.6999T= (p.Ser2333=)
c.6300T= (p.Ser2100=)
c.7047T= (p.Ser2349=)
16g.3727994A>CCA493393406CREBBPc.7053T>G (p.Ser2351=)
c.6939T>G (p.Ser2313=)
c.7008T>G (p.Ser2336=)
c.6636T>G (p.Ser2212=)
c.6792T>G (p.Ser2264=)
c.6999T>G (p.Ser2333=)
c.6300T>G (p.Ser2100=)
c.7047T>G (p.Ser2349=)
16g.3727994A>GCA493393407CREBBPc.7053T>C (p.Ser2351=)
c.6939T>C (p.Ser2313=)
c.7008T>C (p.Ser2336=)
c.6636T>C (p.Ser2212=)
c.6792T>C (p.Ser2264=)
c.6999T>C (p.Ser2333=)
c.6300T>C (p.Ser2100=)
c.7047T>C (p.Ser2349=)
 dbSNP gnomAD v3 gnomAD v4
16g.3727994A>TCA493393405CREBBPc.7053T>A (p.Ser2351=)
c.6939T>A (p.Ser2313=)
c.7008T>A (p.Ser2336=)
c.6636T>A (p.Ser2212=)
c.6792T>A (p.Ser2264=)
c.6999T>A (p.Ser2333=)
c.6300T>A (p.Ser2100=)
c.7047T>A (p.Ser2349=)
 dbSNP
16g.3727995G>ACA394550673CREBBPc.7052C>T (p.Ser2351Phe)
c.6938C>T (p.Ser2313Phe)
c.7007C>T (p.Ser2336Phe)
c.6635C>T (p.Ser2212Phe)
c.6791C>T (p.Ser2264Phe)
c.6998C>T (p.Ser2333Phe)
c.6299C>T (p.Ser2100Phe)
c.7046C>T (p.Ser2349Phe)
 dbSNP
16g.3727995G>CCA394550674CREBBPc.7052C>G (p.Ser2351Cys)
c.6938C>G (p.Ser2313Cys)
c.7007C>G (p.Ser2336Cys)
c.6635C>G (p.Ser2212Cys)
c.6791C>G (p.Ser2264Cys)
c.6998C>G (p.Ser2333Cys)
c.6299C>G (p.Ser2100Cys)
c.7046C>G (p.Ser2349Cys)
 dbSNP
16g.3727995G>TCA394550675CREBBPc.7052C>A (p.Ser2351Tyr)
c.6938C>A (p.Ser2313Tyr)
c.7007C>A (p.Ser2336Tyr)
c.6635C>A (p.Ser2212Tyr)
c.6791C>A (p.Ser2264Tyr)
c.6998C>A (p.Ser2333Tyr)
c.6299C>A (p.Ser2100Tyr)
c.7046C>A (p.Ser2349Tyr)
16g.3727996A>CCA394550680CREBBPc.7051T>G (p.Ser2351Ala)
c.6937T>G (p.Ser2313Ala)
c.7006T>G (p.Ser2336Ala)
c.6634T>G (p.Ser2212Ala)
c.6790T>G (p.Ser2264Ala)
c.6997T>G (p.Ser2333Ala)
c.6298T>G (p.Ser2100Ala)
c.7045T>G (p.Ser2349Ala)
 dbSNP
16g.3727996A>GCA394550679CREBBPc.7051T>C (p.Ser2351Pro)
c.6937T>C (p.Ser2313Pro)
c.7006T>C (p.Ser2336Pro)
c.6634T>C (p.Ser2212Pro)
c.6790T>C (p.Ser2264Pro)
c.6997T>C (p.Ser2333Pro)
c.6298T>C (p.Ser2100Pro)
c.7045T>C (p.Ser2349Pro)
 dbSNP gnomAD v4
16g.3727996A>TCA394550677CREBBPc.7051T>A (p.Ser2351Thr)
c.6937T>A (p.Ser2313Thr)
c.7006T>A (p.Ser2336Thr)
c.6634T>A (p.Ser2212Thr)
c.6790T>A (p.Ser2264Thr)
c.6997T>A (p.Ser2333Thr)
c.6298T>A (p.Ser2100Thr)
c.7045T>A (p.Ser2349Thr)
 dbSNP
16g.3727997C>ACA394550682CREBBPc.7050G>T (p.Gln2350His)
c.6936G>T (p.Gln2312His)
c.7005G>T (p.Gln2335His)
c.6633G>T (p.Gln2211His)
c.6789G>T (p.Gln2263His)
c.6996G>T (p.Gln2332His)
c.6297G>T (p.Gln2099His)
c.7044G>T (p.Gln2348His)
 dbSNP gnomAD v2 gnomAD v4
16g.3727997C=CA2202928437CREBBPc.7050G= (p.Gln2350=)
c.6936G= (p.Gln2312=)
c.7005G= (p.Gln2335=)
c.6633G= (p.Gln2211=)
c.6789G= (p.Gln2263=)
c.6996G= (p.Gln2332=)
c.6297G= (p.Gln2099=)
c.7044G= (p.Gln2348=)
16g.3727997C>GCA394550683CREBBPc.7050G>C (p.Gln2350His)
c.6936G>C (p.Gln2312His)
c.7005G>C (p.Gln2335His)
c.6633G>C (p.Gln2211His)
c.6789G>C (p.Gln2263His)
c.6996G>C (p.Gln2332His)
c.6297G>C (p.Gln2099His)
c.7044G>C (p.Gln2348His)
 dbSNP gnomAD v4
16g.3727997C>TCA493393408CREBBPc.7050G>A (p.Gln2350=)
c.6936G>A (p.Gln2312=)
c.7005G>A (p.Gln2335=)
c.6633G>A (p.Gln2211=)
c.6789G>A (p.Gln2263=)
c.6996G>A (p.Gln2332=)
c.6297G>A (p.Gln2099=)
c.7044G>A (p.Gln2348=)
 dbSNP gnomAD v4
16g.3727998T>ACA394550685CREBBPc.7049A>T (p.Gln2350Leu)
c.6935A>T (p.Gln2312Leu)
c.7004A>T (p.Gln2335Leu)
c.6632A>T (p.Gln2211Leu)
c.6788A>T (p.Gln2263Leu)
c.6995A>T (p.Gln2332Leu)
c.6296A>T (p.Gln2099Leu)
c.7043A>T (p.Gln2348Leu)
16g.3727998T>CCA394550687CREBBPc.7049A>G (p.Gln2350Arg)
c.6935A>G (p.Gln2312Arg)
c.7004A>G (p.Gln2335Arg)
c.6632A>G (p.Gln2211Arg)
c.6788A>G (p.Gln2263Arg)
c.6995A>G (p.Gln2332Arg)
c.6296A>G (p.Gln2099Arg)
c.7043A>G (p.Gln2348Arg)
 dbSNP gnomAD v3 gnomAD v4
16g.3727998T>GCA394550688CREBBPc.7049A>C (p.Gln2350Pro)
c.6935A>C (p.Gln2312Pro)
c.7004A>C (p.Gln2335Pro)
c.6632A>C (p.Gln2211Pro)
c.6788A>C (p.Gln2263Pro)
c.6995A>C (p.Gln2332Pro)
c.6296A>C (p.Gln2099Pro)
c.7043A>C (p.Gln2348Pro)
16g.3727998T=CA2202928438CREBBPc.7049A= (p.Gln2350=)
c.6935A= (p.Gln2312=)
c.7004A= (p.Gln2335=)
c.6632A= (p.Gln2211=)
c.6788A= (p.Gln2263=)
c.6995A= (p.Gln2332=)
c.6296A= (p.Gln2099=)
c.7043A= (p.Gln2348=)
16g.3727999G>ACA394550691CREBBPc.7048C>T (p.Gln2350Ter)
c.6934C>T (p.Gln2312Ter)
c.7003C>T (p.Gln2335Ter)
c.6631C>T (p.Gln2211Ter)
c.6787C>T (p.Gln2263Ter)
c.6994C>T (p.Gln2332Ter)
c.6295C>T (p.Gln2099Ter)
c.7042C>T (p.Gln2348Ter)
 dbSNP
16g.3727999G>CCA7868958CREBBPc.7048C>G (p.Gln2350Glu)
c.6934C>G (p.Gln2312Glu)
c.7003C>G (p.Gln2335Glu)
c.6631C>G (p.Gln2211Glu)
c.6787C>G (p.Gln2263Glu)
c.6994C>G (p.Gln2332Glu)
c.6295C>G (p.Gln2099Glu)
c.7042C>G (p.Gln2348Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.3727999G=CA2202928439CREBBPc.7048C= (p.Gln2350=)
c.6934C= (p.Gln2312=)
c.7003C= (p.Gln2335=)
c.6631C= (p.Gln2211=)
c.6787C= (p.Gln2263=)
c.6994C= (p.Gln2332=)
c.6295C= (p.Gln2099=)
c.7042C= (p.Gln2348=)
16g.3727999G>TCA394550693CREBBPc.7048C>A (p.Gln2350Lys)
c.6934C>A (p.Gln2312Lys)
c.7003C>A (p.Gln2335Lys)
c.6631C>A (p.Gln2211Lys)
c.6787C>A (p.Gln2263Lys)
c.6994C>A (p.Gln2332Lys)
c.6295C>A (p.Gln2099Lys)
c.7042C>A (p.Gln2348Lys)
 dbSNP gnomAD v3 gnomAD v4
16g.3728000_3728017dupCA720733019CREBBPc.7031_7048dup (p.Val2349_Gln2350insArgSerProAlaProVal)
c.6917_6934dup (p.Val2311_Gln2312insArgSerProAlaProVal)
c.6986_7003dup (p.Val2334_Gln2335insArgSerProAlaProVal)
c.6614_6631dup (p.Val2210_Gln2211insArgSerProAlaProVal)
c.6770_6787dup (p.Val2262_Gln2263insArgSerProAlaProVal)
c.6977_6994dup (p.Val2331_Gln2332insArgSerProAlaProVal)
c.6278_6295dup (p.Val2098_Gln2099insArgSerProAlaProVal)
c.7025_7042dup (p.Val2347_Gln2348insArgSerProAlaProVal)
 dbSNP gnomAD v3 gnomAD v4
16g.3728000G>ACA493393414CREBBPc.7047C>T (p.Val2349=)
c.6933C>T (p.Val2311=)
c.7002C>T (p.Val2334=)
c.6630C>T (p.Val2210=)
c.6786C>T (p.Val2262=)
c.6993C>T (p.Val2331=)
c.6294C>T (p.Val2098=)
c.7041C>T (p.Val2347=)
 dbSNP COSMIC
16g.3728000G>CCA493393416CREBBPc.7047C>G (p.Val2349=)
c.6933C>G (p.Val2311=)
c.7002C>G (p.Val2334=)
c.6630C>G (p.Val2210=)
c.6786C>G (p.Val2262=)
c.6993C>G (p.Val2331=)
c.6294C>G (p.Val2098=)
c.7041C>G (p.Val2347=)
 dbSNP COSMIC
16g.3728000G=CA2202928440CREBBPc.7047C= (p.Val2349=)
c.6933C= (p.Val2311=)
c.7002C= (p.Val2334=)
c.6630C= (p.Val2210=)
c.6786C= (p.Val2262=)
c.6993C= (p.Val2331=)
c.6294C= (p.Val2098=)
c.7041C= (p.Val2347=)
16g.3728000G>TCA493393415CREBBPc.7047C>A (p.Val2349=)
c.6933C>A (p.Val2311=)
c.7002C>A (p.Val2334=)
c.6630C>A (p.Val2210=)
c.6786C>A (p.Val2262=)
c.6993C>A (p.Val2331=)
c.6294C>A (p.Val2098=)
c.7041C>A (p.Val2347=)
 dbSNP
16g.3728001A>CCA394550696CREBBPc.7046T>G (p.Val2349Gly)
c.6932T>G (p.Val2311Gly)
c.7001T>G (p.Val2334Gly)
c.6629T>G (p.Val2210Gly)
c.6785T>G (p.Val2262Gly)
c.6992T>G (p.Val2331Gly)
c.6293T>G (p.Val2098Gly)
c.7040T>G (p.Val2347Gly)
 dbSNP
16g.3728001A>GCA394550697CREBBPc.7046T>C (p.Val2349Ala)
c.6932T>C (p.Val2311Ala)
c.7001T>C (p.Val2334Ala)
c.6629T>C (p.Val2210Ala)
c.6785T>C (p.Val2262Ala)
c.6992T>C (p.Val2331Ala)
c.6293T>C (p.Val2098Ala)
c.7040T>C (p.Val2347Ala)
 dbSNP
16g.3728001A>TCA394550698CREBBPc.7046T>A (p.Val2349Asp)
c.6932T>A (p.Val2311Asp)
c.7001T>A (p.Val2334Asp)
c.6629T>A (p.Val2210Asp)
c.6785T>A (p.Val2262Asp)
c.6992T>A (p.Val2331Asp)
c.6293T>A (p.Val2098Asp)
c.7040T>A (p.Val2347Asp)
 dbSNP
16g.3728002C>ACA394550700CREBBPc.7045G>T (p.Val2349Phe)
c.6931G>T (p.Val2311Phe)
c.7000G>T (p.Val2334Phe)
c.6628G>T (p.Val2210Phe)
c.6784G>T (p.Val2262Phe)
c.6991G>T (p.Val2331Phe)
c.6292G>T (p.Val2098Phe)
c.7039G>T (p.Val2347Phe)
 dbSNP gnomAD v4
16g.3728002C>GCA394550702CREBBPc.7045G>C (p.Val2349Leu)
c.6931G>C (p.Val2311Leu)
c.7000G>C (p.Val2334Leu)
c.6628G>C (p.Val2210Leu)
c.6784G>C (p.Val2262Leu)
c.6991G>C (p.Val2331Leu)
c.6292G>C (p.Val2098Leu)
c.7039G>C (p.Val2347Leu)
 dbSNP
16g.3728002C>TCA394550704CREBBPc.7045G>A (p.Val2349Ile)
c.6931G>A (p.Val2311Ile)
c.7000G>A (p.Val2334Ile)
c.6628G>A (p.Val2210Ile)
c.6784G>A (p.Val2262Ile)
c.6991G>A (p.Val2331Ile)
c.6292G>A (p.Val2098Ile)
c.7039G>A (p.Val2347Ile)
 dbSNP
16g.3728003A>CCA493393419CREBBPc.7044T>G (p.Pro2348=)
c.6930T>G (p.Pro2310=)
c.6999T>G (p.Pro2333=)
c.6627T>G (p.Pro2209=)
c.6783T>G (p.Pro2261=)
c.6990T>G (p.Pro2330=)
c.6291T>G (p.Pro2097=)
c.7038T>G (p.Pro2346=)
16g.3728003A>GCA493393420CREBBPc.7044T>C (p.Pro2348=)
c.6930T>C (p.Pro2310=)
c.6999T>C (p.Pro2333=)
c.6627T>C (p.Pro2209=)
c.6783T>C (p.Pro2261=)
c.6990T>C (p.Pro2330=)
c.6291T>C (p.Pro2097=)
c.7038T>C (p.Pro2346=)
 dbSNP
16g.3728003A>TCA493393421CREBBPc.7044T>A (p.Pro2348=)
c.6930T>A (p.Pro2310=)
c.6999T>A (p.Pro2333=)
c.6627T>A (p.Pro2209=)
c.6783T>A (p.Pro2261=)
c.6990T>A (p.Pro2330=)
c.6291T>A (p.Pro2097=)
c.7038T>A (p.Pro2346=)
 dbSNP
16g.3728004G>ACA394550710CREBBPc.7043C>T (p.Pro2348Leu)
c.6929C>T (p.Pro2310Leu)
c.6998C>T (p.Pro2333Leu)
c.6626C>T (p.Pro2209Leu)
c.6782C>T (p.Pro2261Leu)
c.6989C>T (p.Pro2330Leu)
c.6290C>T (p.Pro2097Leu)
c.7037C>T (p.Pro2346Leu)
 dbSNP
16g.3728004G>CCA394550708CREBBPc.7043C>G (p.Pro2348Arg)
c.6929C>G (p.Pro2310Arg)
c.6998C>G (p.Pro2333Arg)
c.6626C>G (p.Pro2209Arg)
c.6782C>G (p.Pro2261Arg)
c.6989C>G (p.Pro2330Arg)
c.6290C>G (p.Pro2097Arg)
c.7037C>G (p.Pro2346Arg)
16g.3728004G>TCA394550706CREBBPc.7043C>A (p.Pro2348His)
c.6929C>A (p.Pro2310His)
c.6998C>A (p.Pro2333His)
c.6626C>A (p.Pro2209His)
c.6782C>A (p.Pro2261His)
c.6989C>A (p.Pro2330His)
c.6290C>A (p.Pro2097His)
c.7037C>A (p.Pro2346His)
 dbSNP
16g.3728005G>ACA394550712CREBBPc.7042C>T (p.Pro2348Ser)
c.6928C>T (p.Pro2310Ser)
c.6997C>T (p.Pro2333Ser)
c.6625C>T (p.Pro2209Ser)
c.6781C>T (p.Pro2261Ser)
c.6988C>T (p.Pro2330Ser)
c.6289C>T (p.Pro2097Ser)
c.7036C>T (p.Pro2346Ser)
 dbSNP
16g.3728005G>CCA394550714CREBBPc.7042C>G (p.Pro2348Ala)
c.6928C>G (p.Pro2310Ala)
c.6997C>G (p.Pro2333Ala)
c.6625C>G (p.Pro2209Ala)
c.6781C>G (p.Pro2261Ala)
c.6988C>G (p.Pro2330Ala)
c.6289C>G (p.Pro2097Ala)
c.7036C>G (p.Pro2346Ala)
16g.3728005G>TCA394550716CREBBPc.7042C>A (p.Pro2348Thr)
c.6928C>A (p.Pro2310Thr)
c.6997C>A (p.Pro2333Thr)
c.6625C>A (p.Pro2209Thr)
c.6781C>A (p.Pro2261Thr)
c.6988C>A (p.Pro2330Thr)
c.6289C>A (p.Pro2097Thr)
c.7036C>A (p.Pro2346Thr)
 dbSNP
16g.3728006G>ACA7868959CREBBPc.7041C>T (p.Ala2347=)
c.6927C>T (p.Ala2309=)
c.6996C>T (p.Ala2332=)
c.6624C>T (p.Ala2208=)
c.6780C>T (p.Ala2260=)
c.6987C>T (p.Ala2329=)
c.6288C>T (p.Ala2096=)
c.7035C>T (p.Ala2345=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3728006G>CCA493393426CREBBPc.7041C>G (p.Ala2347=)
c.6927C>G (p.Ala2309=)
c.6996C>G (p.Ala2332=)
c.6624C>G (p.Ala2208=)
c.6780C>G (p.Ala2260=)
c.6987C>G (p.Ala2329=)
c.6288C>G (p.Ala2096=)
c.7035C>G (p.Ala2345=)
16g.3728006G=CA2202928441CREBBPc.7041C= (p.Ala2347=)
c.6927C= (p.Ala2309=)
c.6996C= (p.Ala2332=)
c.6624C= (p.Ala2208=)
c.6780C= (p.Ala2260=)
c.6987C= (p.Ala2329=)
c.6288C= (p.Ala2096=)
c.7035C= (p.Ala2345=)
16g.3728006G>TCA493393428CREBBPc.7041C>A (p.Ala2347=)
c.6927C>A (p.Ala2309=)
c.6996C>A (p.Ala2332=)
c.6624C>A (p.Ala2208=)
c.6780C>A (p.Ala2260=)
c.6987C>A (p.Ala2329=)
c.6288C>A (p.Ala2096=)
c.7035C>A (p.Ala2345=)
16g.3728007G>ACA171806CREBBPc.7040C>T (p.Ala2347Val)
c.6926C>T (p.Ala2309Val)
c.6995C>T (p.Ala2332Val)
c.6623C>T (p.Ala2208Val)
c.6779C>T (p.Ala2260Val)
c.6986C>T (p.Ala2329Val)
c.6287C>T (p.Ala2096Val)
c.7034C>T (p.Ala2345Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3728007G>CCA394550719CREBBPc.7040C>G (p.Ala2347Gly)
c.6926C>G (p.Ala2309Gly)
c.6995C>G (p.Ala2332Gly)
c.6623C>G (p.Ala2208Gly)
c.6779C>G (p.Ala2260Gly)
c.6986C>G (p.Ala2329Gly)
c.6287C>G (p.Ala2096Gly)
c.7034C>G (p.Ala2345Gly)
 dbSNP
16g.3728007G=CA2202928442CREBBPc.7040C= (p.Ala2347=)
c.6926C= (p.Ala2309=)
c.6995C= (p.Ala2332=)
c.6623C= (p.Ala2208=)
c.6779C= (p.Ala2260=)
c.6986C= (p.Ala2329=)
c.6287C= (p.Ala2096=)
c.7034C= (p.Ala2345=)
16g.3728007G>TCA394550721CREBBPc.7040C>A (p.Ala2347Asp)
c.6926C>A (p.Ala2309Asp)
c.6995C>A (p.Ala2332Asp)
c.6623C>A (p.Ala2208Asp)
c.6779C>A (p.Ala2260Asp)
c.6986C>A (p.Ala2329Asp)
c.6287C>A (p.Ala2096Asp)
c.7034C>A (p.Ala2345Asp)
16g.3728008C>ACA394550723CREBBPc.7039G>T (p.Ala2347Ser)
c.6925G>T (p.Ala2309Ser)
c.6994G>T (p.Ala2332Ser)
c.6622G>T (p.Ala2208Ser)
c.6778G>T (p.Ala2260Ser)
c.6985G>T (p.Ala2329Ser)
c.6286G>T (p.Ala2096Ser)
c.7033G>T (p.Ala2345Ser)
 dbSNP gnomAD v4
16g.3728008C>GCA394550725CREBBPc.7039G>C (p.Ala2347Pro)
c.6925G>C (p.Ala2309Pro)
c.6994G>C (p.Ala2332Pro)
c.6622G>C (p.Ala2208Pro)
c.6778G>C (p.Ala2260Pro)
c.6985G>C (p.Ala2329Pro)
c.6286G>C (p.Ala2096Pro)
c.7033G>C (p.Ala2345Pro)
 dbSNP
16g.3728008C>TCA394550727CREBBPc.7039G>A (p.Ala2347Thr)
c.6925G>A (p.Ala2309Thr)
c.6994G>A (p.Ala2332Thr)
c.6622G>A (p.Ala2208Thr)
c.6778G>A (p.Ala2260Thr)
c.6985G>A (p.Ala2329Thr)
c.6286G>A (p.Ala2096Thr)
c.7033G>A (p.Ala2345Thr)
 ClinVar dbSNP gnomAD v4
16g.3728009T>ACA493393434CREBBPc.7038A>T (p.Pro2346=)
c.6924A>T (p.Pro2308=)
c.6993A>T (p.Pro2331=)
c.6621A>T (p.Pro2207=)
c.6777A>T (p.Pro2259=)
c.6984A>T (p.Pro2328=)
c.6285A>T (p.Pro2095=)
c.7032A>T (p.Pro2344=)
16g.3728009T>CCA493393436CREBBPc.7038A>G (p.Pro2346=)
c.6924A>G (p.Pro2308=)
c.6993A>G (p.Pro2331=)
c.6621A>G (p.Pro2207=)
c.6777A>G (p.Pro2259=)
c.6984A>G (p.Pro2328=)
c.6285A>G (p.Pro2095=)
c.7032A>G (p.Pro2344=)
 dbSNP
16g.3728009T>GCA493393438CREBBPc.7038A>C (p.Pro2346=)
c.6924A>C (p.Pro2308=)
c.6993A>C (p.Pro2331=)
c.6621A>C (p.Pro2207=)
c.6777A>C (p.Pro2259=)
c.6984A>C (p.Pro2328=)
c.6285A>C (p.Pro2095=)
c.7032A>C (p.Pro2344=)
16g.3728010G>ACA394550729CREBBPc.7037C>T (p.Pro2346Leu)
c.6923C>T (p.Pro2308Leu)
c.6992C>T (p.Pro2331Leu)
c.6620C>T (p.Pro2207Leu)
c.6776C>T (p.Pro2259Leu)
c.6983C>T (p.Pro2328Leu)
c.6284C>T (p.Pro2095Leu)
c.7031C>T (p.Pro2344Leu)
 dbSNP COSMIC
16g.3728010G>CCA394550731CREBBPc.7037C>G (p.Pro2346Arg)
c.6923C>G (p.Pro2308Arg)
c.6992C>G (p.Pro2331Arg)
c.6620C>G (p.Pro2207Arg)
c.6776C>G (p.Pro2259Arg)
c.6983C>G (p.Pro2328Arg)
c.6284C>G (p.Pro2095Arg)
c.7031C>G (p.Pro2344Arg)
 dbSNP
16g.3728010G>TCA394550733CREBBPc.7037C>A (p.Pro2346Gln)
c.6923C>A (p.Pro2308Gln)
c.6992C>A (p.Pro2331Gln)
c.6620C>A (p.Pro2207Gln)
c.6776C>A (p.Pro2259Gln)
c.6983C>A (p.Pro2328Gln)
c.6284C>A (p.Pro2095Gln)
c.7031C>A (p.Pro2344Gln)
 dbSNP
16g.3728011G>ACA394550739CREBBPc.7036C>T (p.Pro2346Ser)
c.6922C>T (p.Pro2308Ser)
c.6991C>T (p.Pro2331Ser)
c.6619C>T (p.Pro2207Ser)
c.6775C>T (p.Pro2259Ser)
c.6982C>T (p.Pro2328Ser)
c.6283C>T (p.Pro2095Ser)
c.7030C>T (p.Pro2344Ser)
 dbSNP
16g.3728011G>CCA394550737CREBBPc.7036C>G (p.Pro2346Ala)
c.6922C>G (p.Pro2308Ala)
c.6991C>G (p.Pro2331Ala)
c.6619C>G (p.Pro2207Ala)
c.6775C>G (p.Pro2259Ala)
c.6982C>G (p.Pro2328Ala)
c.6283C>G (p.Pro2095Ala)
c.7030C>G (p.Pro2344Ala)
 dbSNP
16g.3728011G>TCA394550735CREBBPc.7036C>A (p.Pro2346Thr)
c.6922C>A (p.Pro2308Thr)
c.6991C>A (p.Pro2331Thr)
c.6619C>A (p.Pro2207Thr)
c.6775C>A (p.Pro2259Thr)
c.6982C>A (p.Pro2328Thr)
c.6283C>A (p.Pro2095Thr)
c.7030C>A (p.Pro2344Thr)
16g.3728012A>CCA493393445CREBBPc.7035T>G (p.Ser2345=)
c.6921T>G (p.Ser2307=)
c.6990T>G (p.Ser2330=)
c.6618T>G (p.Ser2206=)
c.6774T>G (p.Ser2258=)
c.6981T>G (p.Ser2327=)
c.6282T>G (p.Ser2094=)
c.7029T>G (p.Ser2343=)
 gnomAD v4
16g.3728012A>GCA493393447CREBBPc.7035T>C (p.Ser2345=)
c.6921T>C (p.Ser2307=)
c.6990T>C (p.Ser2330=)
c.6618T>C (p.Ser2206=)
c.6774T>C (p.Ser2258=)
c.6981T>C (p.Ser2327=)
c.6282T>C (p.Ser2094=)
c.7029T>C (p.Ser2343=)
 dbSNP
16g.3728012A>TCA493393449CREBBPc.7035T>A (p.Ser2345=)
c.6921T>A (p.Ser2307=)
c.6990T>A (p.Ser2330=)
c.6618T>A (p.Ser2206=)
c.6774T>A (p.Ser2258=)
c.6981T>A (p.Ser2327=)
c.6282T>A (p.Ser2094=)
c.7029T>A (p.Ser2343=)
 dbSNP
16g.3728013G>ACA394550741CREBBPc.7034C>T (p.Ser2345Phe)
c.6920C>T (p.Ser2307Phe)
c.6989C>T (p.Ser2330Phe)
c.6617C>T (p.Ser2206Phe)
c.6773C>T (p.Ser2258Phe)
c.6980C>T (p.Ser2327Phe)
c.6281C>T (p.Ser2094Phe)
c.7028C>T (p.Ser2343Phe)
 dbSNP
16g.3728013G>CCA394550743CREBBPc.7034C>G (p.Ser2345Cys)
c.6920C>G (p.Ser2307Cys)
c.6989C>G (p.Ser2330Cys)
c.6617C>G (p.Ser2206Cys)
c.6773C>G (p.Ser2258Cys)
c.6980C>G (p.Ser2327Cys)
c.6281C>G (p.Ser2094Cys)
c.7028C>G (p.Ser2343Cys)
 dbSNP
16g.3728013G>TCA394550744CREBBPc.7034C>A (p.Ser2345Tyr)
c.6920C>A (p.Ser2307Tyr)
c.6989C>A (p.Ser2330Tyr)
c.6617C>A (p.Ser2206Tyr)
c.6773C>A (p.Ser2258Tyr)
c.6980C>A (p.Ser2327Tyr)
c.6281C>A (p.Ser2094Tyr)
c.7028C>A (p.Ser2343Tyr)
 dbSNP
16g.3728014A>CCA394550746CREBBPc.7033T>G (p.Ser2345Ala)
c.6919T>G (p.Ser2307Ala)
c.6988T>G (p.Ser2330Ala)
c.6616T>G (p.Ser2206Ala)
c.6772T>G (p.Ser2258Ala)
c.6979T>G (p.Ser2327Ala)
c.6280T>G (p.Ser2094Ala)
c.7027T>G (p.Ser2343Ala)
 dbSNP
16g.3728014A>GCA394550748CREBBPc.7033T>C (p.Ser2345Pro)
c.6919T>C (p.Ser2307Pro)
c.6988T>C (p.Ser2330Pro)
c.6616T>C (p.Ser2206Pro)
c.6772T>C (p.Ser2258Pro)
c.6979T>C (p.Ser2327Pro)
c.6280T>C (p.Ser2094Pro)
c.7027T>C (p.Ser2343Pro)
 dbSNP
16g.3728014A>TCA394550750CREBBPc.7033T>A (p.Ser2345Thr)
c.6919T>A (p.Ser2307Thr)
c.6988T>A (p.Ser2330Thr)
c.6616T>A (p.Ser2206Thr)
c.6772T>A (p.Ser2258Thr)
c.6979T>A (p.Ser2327Thr)
c.6280T>A (p.Ser2094Thr)
c.7027T>A (p.Ser2343Thr)
 dbSNP
16g.3728015C>ACA493393453CREBBPc.7032G>T (p.Arg2344=)
c.6918G>T (p.Arg2306=)
c.6987G>T (p.Arg2329=)
c.6615G>T (p.Arg2205=)
c.6771G>T (p.Arg2257=)
c.6978G>T (p.Arg2326=)
c.6279G>T (p.Arg2093=)
c.7026G>T (p.Arg2342=)
 dbSNP
16g.3728015C>GCA493393456CREBBPc.7032G>C (p.Arg2344=)
c.6918G>C (p.Arg2306=)
c.6987G>C (p.Arg2329=)
c.6615G>C (p.Arg2205=)
c.6771G>C (p.Arg2257=)
c.6978G>C (p.Arg2326=)
c.6279G>C (p.Arg2093=)
c.7026G>C (p.Arg2342=)
 dbSNP
16g.3728015C>TCA493393455CREBBPc.7032G>A (p.Arg2344=)
c.6918G>A (p.Arg2306=)
c.6987G>A (p.Arg2329=)
c.6615G>A (p.Arg2205=)
c.6771G>A (p.Arg2257=)
c.6978G>A (p.Arg2326=)
c.6279G>A (p.Arg2093=)
c.7026G>A (p.Arg2342=)
 dbSNP COSMIC
16g.3728016C>ACA394550752CREBBPc.7031G>T (p.Arg2344Leu)
c.6917G>T (p.Arg2306Leu)
c.6986G>T (p.Arg2329Leu)
c.6614G>T (p.Arg2205Leu)
c.6770G>T (p.Arg2257Leu)
c.6977G>T (p.Arg2326Leu)
c.6278G>T (p.Arg2093Leu)
c.7025G>T (p.Arg2342Leu)
16g.3728016C=CA2202928443CREBBPc.7031G= (p.Arg2344=)
c.6917G= (p.Arg2306=)
c.6986G= (p.Arg2329=)
c.6614G= (p.Arg2205=)
c.6770G= (p.Arg2257=)
c.6977G= (p.Arg2326=)
c.6278G= (p.Arg2093=)
c.7025G= (p.Arg2342=)
16g.3728016C>GCA394550753CREBBPc.7031G>C (p.Arg2344Pro)
c.6917G>C (p.Arg2306Pro)
c.6986G>C (p.Arg2329Pro)
c.6614G>C (p.Arg2205Pro)
c.6770G>C (p.Arg2257Pro)
c.6977G>C (p.Arg2326Pro)
c.6278G>C (p.Arg2093Pro)
c.7025G>C (p.Arg2342Pro)
16g.3728016C>TCA7868960CREBBPc.7031G>A (p.Arg2344Gln)
c.6917G>A (p.Arg2306Gln)
c.6986G>A (p.Arg2329Gln)
c.6614G>A (p.Arg2205Gln)
c.6770G>A (p.Arg2257Gln)
c.6977G>A (p.Arg2326Gln)
c.6278G>A (p.Arg2093Gln)
c.7025G>A (p.Arg2342Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3728017G>ACA394550755CREBBPc.7030C>T (p.Arg2344Trp)
c.6916C>T (p.Arg2306Trp)
c.6985C>T (p.Arg2329Trp)
c.6613C>T (p.Arg2205Trp)
c.6769C>T (p.Arg2257Trp)
c.6976C>T (p.Arg2326Trp)
c.6277C>T (p.Arg2093Trp)
c.7024C>T (p.Arg2342Trp)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.3728017G>CCA394550757CREBBPc.7030C>G (p.Arg2344Gly)
c.6916C>G (p.Arg2306Gly)
c.6985C>G (p.Arg2329Gly)
c.6613C>G (p.Arg2205Gly)
c.6769C>G (p.Arg2257Gly)
c.6976C>G (p.Arg2326Gly)
c.6277C>G (p.Arg2093Gly)
c.7024C>G (p.Arg2342Gly)
16g.3728017G=CA2202928444CREBBPc.7030C= (p.Arg2344=)
c.6916C= (p.Arg2306=)
c.6985C= (p.Arg2329=)
c.6613C= (p.Arg2205=)
c.6769C= (p.Arg2257=)
c.6976C= (p.Arg2326=)
c.6277C= (p.Arg2093=)
c.7024C= (p.Arg2342=)
16g.3728017G>TCA493393458CREBBPc.7030C>A (p.Arg2344=)
c.6916C>A (p.Arg2306=)
c.6985C>A (p.Arg2329=)
c.6613C>A (p.Arg2205=)
c.6769C>A (p.Arg2257=)
c.6976C>A (p.Arg2326=)
c.6277C>A (p.Arg2093=)
c.7024C>A (p.Arg2342=)
 gnomAD v4
16g.3728018C>ACA493393462CREBBPc.7029G>T (p.Val2343=)
c.6915G>T (p.Val2305=)
c.6984G>T (p.Val2328=)
c.6612G>T (p.Val2204=)
c.6768G>T (p.Val2256=)
c.6975G>T (p.Val2325=)
c.6276G>T (p.Val2092=)
c.7023G>T (p.Val2341=)
 dbSNP
16g.3728018C>GCA493393463CREBBPc.7029G>C (p.Val2343=)
c.6915G>C (p.Val2305=)
c.6984G>C (p.Val2328=)
c.6612G>C (p.Val2204=)
c.6768G>C (p.Val2256=)
c.6975G>C (p.Val2325=)
c.6276G>C (p.Val2092=)
c.7023G>C (p.Val2341=)
 dbSNP
16g.3728018C>TCA493393464CREBBPc.7029G>A (p.Val2343=)
c.6915G>A (p.Val2305=)
c.6984G>A (p.Val2328=)
c.6612G>A (p.Val2204=)
c.6768G>A (p.Val2256=)
c.6975G>A (p.Val2325=)
c.6276G>A (p.Val2092=)
c.7023G>A (p.Val2341=)
 dbSNP
16g.3728019A=CA2202928445CREBBPc.7028T= (p.Val2343=)
c.6914T= (p.Val2305=)
c.6983T= (p.Val2328=)
c.6611T= (p.Val2204=)
c.6767T= (p.Val2256=)
c.6974T= (p.Val2325=)
c.6275T= (p.Val2092=)
c.7022T= (p.Val2341=)
16g.3728019A>CCA394550759CREBBPc.7028T>G (p.Val2343Gly)
c.6914T>G (p.Val2305Gly)
c.6983T>G (p.Val2328Gly)
c.6611T>G (p.Val2204Gly)
c.6767T>G (p.Val2256Gly)
c.6974T>G (p.Val2325Gly)
c.6275T>G (p.Val2092Gly)
c.7022T>G (p.Val2341Gly)
 ClinVar dbSNP
16g.3728019A>GCA276971124CREBBPc.7028T>C (p.Val2343Ala)
c.6914T>C (p.Val2305Ala)
c.6983T>C (p.Val2328Ala)
c.6611T>C (p.Val2204Ala)
c.6767T>C (p.Val2256Ala)
c.6974T>C (p.Val2325Ala)
c.6275T>C (p.Val2092Ala)
c.7022T>C (p.Val2341Ala)
 dbSNP
16g.3728019A>TCA394550762CREBBPc.7028T>A (p.Val2343Glu)
c.6914T>A (p.Val2305Glu)
c.6983T>A (p.Val2328Glu)
c.6611T>A (p.Val2204Glu)
c.6767T>A (p.Val2256Glu)
c.6974T>A (p.Val2325Glu)
c.6275T>A (p.Val2092Glu)
c.7022T>A (p.Val2341Glu)
 dbSNP
16g.3728020C>ACA394550766CREBBPc.7027G>T (p.Val2343Leu)
c.6913G>T (p.Val2305Leu)
c.6982G>T (p.Val2328Leu)
c.6610G>T (p.Val2204Leu)
c.6766G>T (p.Val2256Leu)
c.6973G>T (p.Val2325Leu)
c.6274G>T (p.Val2092Leu)
c.7021G>T (p.Val2341Leu)
 dbSNP
16g.3728020C>GCA394550768CREBBPc.7027G>C (p.Val2343Leu)
c.6913G>C (p.Val2305Leu)
c.6982G>C (p.Val2328Leu)
c.6610G>C (p.Val2204Leu)
c.6766G>C (p.Val2256Leu)
c.6973G>C (p.Val2325Leu)
c.6274G>C (p.Val2092Leu)
c.7021G>C (p.Val2341Leu)
 dbSNP
16g.3728020C>TCA394550764CREBBPc.7027G>A (p.Val2343Met)
c.6913G>A (p.Val2305Met)
c.6982G>A (p.Val2328Met)
c.6610G>A (p.Val2204Met)
c.6766G>A (p.Val2256Met)
c.6973G>A (p.Val2325Met)
c.6274G>A (p.Val2092Met)
c.7021G>A (p.Val2341Met)
 dbSNP
16g.3728021C>ACA394550770CREBBPc.7026G>T (p.Gln2342His)
c.6912G>T (p.Gln2304His)
c.6981G>T (p.Gln2327His)
c.6609G>T (p.Gln2203His)
c.6765G>T (p.Gln2255His)
c.6972G>T (p.Gln2324His)
c.6273G>T (p.Gln2091His)
c.7020G>T (p.Gln2340His)
16g.3728021C=CA2202928446CREBBPc.7026G= (p.Gln2342=)
c.6912G= (p.Gln2304=)
c.6981G= (p.Gln2327=)
c.6609G= (p.Gln2203=)
c.6765G= (p.Gln2255=)
c.6972G= (p.Gln2324=)
c.6273G= (p.Gln2091=)
c.7020G= (p.Gln2340=)
16g.3728021C>GCA394550772CREBBPc.7026G>C (p.Gln2342His)
c.6912G>C (p.Gln2304His)
c.6981G>C (p.Gln2327His)
c.6609G>C (p.Gln2203His)
c.6765G>C (p.Gln2255His)
c.6972G>C (p.Gln2324His)
c.6273G>C (p.Gln2091His)
c.7020G>C (p.Gln2340His)
 dbSNP
16g.3728021C>TCA493393467CREBBPc.7026G>A (p.Gln2342=)
c.6912G>A (p.Gln2304=)
c.6981G>A (p.Gln2327=)
c.6609G>A (p.Gln2203=)
c.6765G>A (p.Gln2255=)
c.6972G>A (p.Gln2324=)
c.6273G>A (p.Gln2091=)
c.7020G>A (p.Gln2340=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.3728022T>ACA394550773CREBBPc.7025A>T (p.Gln2342Leu)
c.6911A>T (p.Gln2304Leu)
c.6980A>T (p.Gln2327Leu)
c.6608A>T (p.Gln2203Leu)
c.6764A>T (p.Gln2255Leu)
c.6971A>T (p.Gln2324Leu)
c.6272A>T (p.Gln2091Leu)
c.7019A>T (p.Gln2340Leu)
16g.3728022T>CCA394550775CREBBPc.7025A>G (p.Gln2342Arg)
c.6911A>G (p.Gln2304Arg)
c.6980A>G (p.Gln2327Arg)
c.6608A>G (p.Gln2203Arg)
c.6764A>G (p.Gln2255Arg)
c.6971A>G (p.Gln2324Arg)
c.6272A>G (p.Gln2091Arg)
c.7019A>G (p.Gln2340Arg)
16g.3728022T>GCA394550777CREBBPc.7025A>C (p.Gln2342Pro)
c.6911A>C (p.Gln2304Pro)
c.6980A>C (p.Gln2327Pro)
c.6608A>C (p.Gln2203Pro)
c.6764A>C (p.Gln2255Pro)
c.6971A>C (p.Gln2324Pro)
c.6272A>C (p.Gln2091Pro)
c.7019A>C (p.Gln2340Pro)
16g.3728023G>ACA7868961CREBBPc.7024C>T (p.Gln2342Ter)
c.6910C>T (p.Gln2304Ter)
c.6979C>T (p.Gln2327Ter)
c.6607C>T (p.Gln2203Ter)
c.6763C>T (p.Gln2255Ter)
c.6970C>T (p.Gln2324Ter)
c.6271C>T (p.Gln2091Ter)
c.7018C>T (p.Gln2340Ter)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3728023G>CCA394550780CREBBPc.7024C>G (p.Gln2342Glu)
c.6910C>G (p.Gln2304Glu)
c.6979C>G (p.Gln2327Glu)
c.6607C>G (p.Gln2203Glu)
c.6763C>G (p.Gln2255Glu)
c.6970C>G (p.Gln2324Glu)
c.6271C>G (p.Gln2091Glu)
c.7018C>G (p.Gln2340Glu)
 dbSNP
16g.3728023G=CA2202928447CREBBPc.7024C= (p.Gln2342=)
c.6910C= (p.Gln2304=)
c.6979C= (p.Gln2327=)
c.6607C= (p.Gln2203=)
c.6763C= (p.Gln2255=)
c.6970C= (p.Gln2324=)
c.6271C= (p.Gln2091=)
c.7018C= (p.Gln2340=)
16g.3728023G>TCA394550782CREBBPc.7024C>A (p.Gln2342Lys)
c.6910C>A (p.Gln2304Lys)
c.6979C>A (p.Gln2327Lys)
c.6607C>A (p.Gln2203Lys)
c.6763C>A (p.Gln2255Lys)
c.6970C>A (p.Gln2324Lys)
c.6271C>A (p.Gln2091Lys)
c.7018C>A (p.Gln2340Lys)
 dbSNP
16g.3728024G>ACA493393470CREBBPc.7023C>T (p.Asn2341=)
c.6909C>T (p.Asn2303=)
c.6978C>T (p.Asn2326=)
c.6606C>T (p.Asn2202=)
c.6762C>T (p.Asn2254=)
c.6969C>T (p.Asn2323=)
c.6270C>T (p.Asn2090=)
c.7017C>T (p.Asn2339=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.3728024G>CCA394550784CREBBPc.7023C>G (p.Asn2341Lys)
c.6909C>G (p.Asn2303Lys)
c.6978C>G (p.Asn2326Lys)
c.6606C>G (p.Asn2202Lys)
c.6762C>G (p.Asn2254Lys)
c.6969C>G (p.Asn2323Lys)
c.6270C>G (p.Asn2090Lys)
c.7017C>G (p.Asn2339Lys)
 ClinVar
16g.3728024G=CA2202928448CREBBPc.7023C= (p.Asn2341=)
c.6909C= (p.Asn2303=)
c.6978C= (p.Asn2326=)
c.6606C= (p.Asn2202=)
c.6762C= (p.Asn2254=)
c.6969C= (p.Asn2323=)
c.6270C= (p.Asn2090=)
c.7017C= (p.Asn2339=)
16g.3728024G>TCA394550785CREBBPc.7023C>A (p.Asn2341Lys)
c.6909C>A (p.Asn2303Lys)
c.6978C>A (p.Asn2326Lys)
c.6606C>A (p.Asn2202Lys)
c.6762C>A (p.Asn2254Lys)
c.6969C>A (p.Asn2323Lys)
c.6270C>A (p.Asn2090Lys)
c.7017C>A (p.Asn2339Lys)
 gnomAD v4 COSMIC
16g.3728025T>ACA394550786CREBBPc.7022A>T (p.Asn2341Ile)
c.6908A>T (p.Asn2303Ile)
c.6977A>T (p.Asn2326Ile)
c.6605A>T (p.Asn2202Ile)
c.6761A>T (p.Asn2254Ile)
c.6968A>T (p.Asn2323Ile)
c.6269A>T (p.Asn2090Ile)
c.7016A>T (p.Asn2339Ile)
 dbSNP
16g.3728025T>CCA394550788CREBBPc.7022A>G (p.Asn2341Ser)
c.6908A>G (p.Asn2303Ser)
c.6977A>G (p.Asn2326Ser)
c.6605A>G (p.Asn2202Ser)
c.6761A>G (p.Asn2254Ser)
c.6968A>G (p.Asn2323Ser)
c.6269A>G (p.Asn2090Ser)
c.7016A>G (p.Asn2339Ser)
16g.3728025T>GCA394550789CREBBPc.7022A>C (p.Asn2341Thr)
c.6908A>C (p.Asn2303Thr)
c.6977A>C (p.Asn2326Thr)
c.6605A>C (p.Asn2202Thr)
c.6761A>C (p.Asn2254Thr)
c.6968A>C (p.Asn2323Thr)
c.6269A>C (p.Asn2090Thr)
c.7016A>C (p.Asn2339Thr)
 dbSNP
16g.3728026T>ACA394550792CREBBPc.7021A>T (p.Asn2341Tyr)
c.6907A>T (p.Asn2303Tyr)
c.6976A>T (p.Asn2326Tyr)
c.6604A>T (p.Asn2202Tyr)
c.6760A>T (p.Asn2254Tyr)
c.6967A>T (p.Asn2323Tyr)
c.6268A>T (p.Asn2090Tyr)
c.7015A>T (p.Asn2339Tyr)
16g.3728026T>CCA394550794CREBBPc.7021A>G (p.Asn2341Asp)
c.6907A>G (p.Asn2303Asp)
c.6976A>G (p.Asn2326Asp)
c.6604A>G (p.Asn2202Asp)
c.6760A>G (p.Asn2254Asp)
c.6967A>G (p.Asn2323Asp)
c.6268A>G (p.Asn2090Asp)
c.7015A>G (p.Asn2339Asp)
 dbSNP
16g.3728026T>GCA394550796CREBBPc.7021A>C (p.Asn2341His)
c.6907A>C (p.Asn2303His)
c.6976A>C (p.Asn2326His)
c.6604A>C (p.Asn2202His)
c.6760A>C (p.Asn2254His)
c.6967A>C (p.Asn2323His)
c.6268A>C (p.Asn2090His)
c.7015A>C (p.Asn2339His)
16g.3728027A=CA2202928449CREBBPc.7020T= (p.Ser2340=)
c.6906T= (p.Ser2302=)
c.6975T= (p.Ser2325=)
c.6603T= (p.Ser2201=)
c.6759T= (p.Ser2253=)
c.6966T= (p.Ser2322=)
c.6267T= (p.Ser2089=)
c.7014T= (p.Ser2338=)
16g.3728027A>CCA394550798CREBBPc.7020T>G (p.Ser2340Arg)
c.6906T>G (p.Ser2302Arg)
c.6975T>G (p.Ser2325Arg)
c.6603T>G (p.Ser2201Arg)
c.6759T>G (p.Ser2253Arg)
c.6966T>G (p.Ser2322Arg)
c.6267T>G (p.Ser2089Arg)
c.7014T>G (p.Ser2338Arg)
 dbSNP
16g.3728027A>GCA493393475CREBBPc.7020T>C (p.Ser2340=)
c.6906T>C (p.Ser2302=)
c.6975T>C (p.Ser2325=)
c.6603T>C (p.Ser2201=)
c.6759T>C (p.Ser2253=)
c.6966T>C (p.Ser2322=)
c.6267T>C (p.Ser2089=)
c.7014T>C (p.Ser2338=)
16g.3728027A>TCA394550799CREBBPc.7020T>A (p.Ser2340Arg)
c.6906T>A (p.Ser2302Arg)
c.6975T>A (p.Ser2325Arg)
c.6603T>A (p.Ser2201Arg)
c.6759T>A (p.Ser2253Arg)
c.6966T>A (p.Ser2322Arg)
c.6267T>A (p.Ser2089Arg)
c.7014T>A (p.Ser2338Arg)
 dbSNP
16g.3728028C>ACA394550801CREBBPc.7019G>T (p.Ser2340Ile)
c.6905G>T (p.Ser2302Ile)
c.6974G>T (p.Ser2325Ile)
c.6602G>T (p.Ser2201Ile)
c.6758G>T (p.Ser2253Ile)
c.6965G>T (p.Ser2322Ile)
c.6266G>T (p.Ser2089Ile)
c.7013G>T (p.Ser2338Ile)
16g.3728028C>GCA394550803CREBBPc.7019G>C (p.Ser2340Thr)
c.6905G>C (p.Ser2302Thr)
c.6974G>C (p.Ser2325Thr)
c.6602G>C (p.Ser2201Thr)
c.6758G>C (p.Ser2253Thr)
c.6965G>C (p.Ser2322Thr)
c.6266G>C (p.Ser2089Thr)
c.7013G>C (p.Ser2338Thr)
 dbSNP gnomAD v4
16g.3728028C>TCA394550805CREBBPc.7019G>A (p.Ser2340Asn)
c.6905G>A (p.Ser2302Asn)
c.6974G>A (p.Ser2325Asn)
c.6602G>A (p.Ser2201Asn)
c.6758G>A (p.Ser2253Asn)
c.6965G>A (p.Ser2322Asn)
c.6266G>A (p.Ser2089Asn)
c.7013G>A (p.Ser2338Asn)
 dbSNP gnomAD v4
16g.3728029T>ACA394550808CREBBPc.7018A>T (p.Ser2340Cys)
c.6904A>T (p.Ser2302Cys)
c.6973A>T (p.Ser2325Cys)
c.6601A>T (p.Ser2201Cys)
c.6757A>T (p.Ser2253Cys)
c.6964A>T (p.Ser2322Cys)
c.6265A>T (p.Ser2089Cys)
c.7012A>T (p.Ser2338Cys)
16g.3728029T>CCA7868962CREBBPc.7018A>G (p.Ser2340Gly)
c.6904A>G (p.Ser2302Gly)
c.6973A>G (p.Ser2325Gly)
c.6601A>G (p.Ser2201Gly)
c.6757A>G (p.Ser2253Gly)
c.6964A>G (p.Ser2322Gly)
c.6265A>G (p.Ser2089Gly)
c.7012A>G (p.Ser2338Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3728029T>GCA394550809CREBBPc.7018A>C (p.Ser2340Arg)
c.6904A>C (p.Ser2302Arg)
c.6973A>C (p.Ser2325Arg)
c.6601A>C (p.Ser2201Arg)
c.6757A>C (p.Ser2253Arg)
c.6964A>C (p.Ser2322Arg)
c.6265A>C (p.Ser2089Arg)
c.7012A>C (p.Ser2338Arg)
 ClinVar gnomAD v4
16g.3728029T=CA2202928450CREBBPc.7018A= (p.Ser2340=)
c.6904A= (p.Ser2302=)
c.6973A= (p.Ser2325=)
c.6601A= (p.Ser2201=)
c.6757A= (p.Ser2253=)
c.6964A= (p.Ser2322=)
c.6265A= (p.Ser2089=)
c.7012A= (p.Ser2338=)
16g.3728030A>CCA493393479CREBBPc.7017T>G (p.Leu2339=)
c.6903T>G (p.Leu2301=)
c.6972T>G (p.Leu2324=)
c.6600T>G (p.Leu2200=)
c.6756T>G (p.Leu2252=)
c.6963T>G (p.Leu2321=)
c.6264T>G (p.Leu2088=)
c.7011T>G (p.Leu2337=)
16g.3728030A>GCA493393480CREBBPc.7017T>C (p.Leu2339=)
c.6903T>C (p.Leu2301=)
c.6972T>C (p.Leu2324=)
c.6600T>C (p.Leu2200=)
c.6756T>C (p.Leu2252=)
c.6963T>C (p.Leu2321=)
c.6264T>C (p.Leu2088=)
c.7011T>C (p.Leu2337=)
16g.3728030A>TCA493393483CREBBPc.7017T>A (p.Leu2339=)
c.6903T>A (p.Leu2301=)
c.6972T>A (p.Leu2324=)
c.6600T>A (p.Leu2200=)
c.6756T>A (p.Leu2252=)
c.6963T>A (p.Leu2321=)
c.6264T>A (p.Leu2088=)
c.7011T>A (p.Leu2337=)
 dbSNP
16g.3728031A>CCA394550812CREBBPc.7016T>G (p.Leu2339Arg)
c.6902T>G (p.Leu2301Arg)
c.6971T>G (p.Leu2324Arg)
c.6599T>G (p.Leu2200Arg)
c.6755T>G (p.Leu2252Arg)
c.6962T>G (p.Leu2321Arg)
c.6263T>G (p.Leu2088Arg)
c.7010T>G (p.Leu2337Arg)
 dbSNP
16g.3728031A>GCA394550813CREBBPc.7016T>C (p.Leu2339Pro)
c.6902T>C (p.Leu2301Pro)
c.6971T>C (p.Leu2324Pro)
c.6599T>C (p.Leu2200Pro)
c.6755T>C (p.Leu2252Pro)
c.6962T>C (p.Leu2321Pro)
c.6263T>C (p.Leu2088Pro)
c.7010T>C (p.Leu2337Pro)
 dbSNP
16g.3728031A>TCA394550815CREBBPc.7016T>A (p.Leu2339His)
c.6902T>A (p.Leu2301His)
c.6971T>A (p.Leu2324His)
c.6599T>A (p.Leu2200His)
c.6755T>A (p.Leu2252His)
c.6962T>A (p.Leu2321His)
c.6263T>A (p.Leu2088His)
c.7010T>A (p.Leu2337His)
 dbSNP
16g.3728032G>ACA394550817CREBBPc.7015C>T (p.Leu2339Phe)
c.6901C>T (p.Leu2301Phe)
c.6970C>T (p.Leu2324Phe)
c.6598C>T (p.Leu2200Phe)
c.6754C>T (p.Leu2252Phe)
c.6961C>T (p.Leu2321Phe)
c.6262C>T (p.Leu2088Phe)
c.7009C>T (p.Leu2337Phe)
 dbSNP
16g.3728032G>CCA394550818CREBBPc.7015C>G (p.Leu2339Val)
c.6901C>G (p.Leu2301Val)
c.6970C>G (p.Leu2324Val)
c.6598C>G (p.Leu2200Val)
c.6754C>G (p.Leu2252Val)
c.6961C>G (p.Leu2321Val)
c.6262C>G (p.Leu2088Val)
c.7009C>G (p.Leu2337Val)
 dbSNP gnomAD v4
16g.3728032G>TCA394550820CREBBPc.7015C>A (p.Leu2339Ile)
c.6901C>A (p.Leu2301Ile)
c.6970C>A (p.Leu2324Ile)
c.6598C>A (p.Leu2200Ile)
c.6754C>A (p.Leu2252Ile)
c.6961C>A (p.Leu2321Ile)
c.6262C>A (p.Leu2088Ile)
c.7009C>A (p.Leu2337Ile)
 dbSNP
16g.3728033G>ACA7868963CREBBPc.7014C>T (p.Ser2338=)
c.6900C>T (p.Ser2300=)
c.6969C>T (p.Ser2323=)
c.6597C>T (p.Ser2199=)
c.6753C>T (p.Ser2251=)
c.6960C>T (p.Ser2320=)
c.6261C>T (p.Ser2087=)
c.7008C>T (p.Ser2336=)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.3728033G>CCA493393484CREBBPc.7014C>G (p.Ser2338=)
c.6900C>G (p.Ser2300=)
c.6969C>G (p.Ser2323=)
c.6597C>G (p.Ser2199=)
c.6753C>G (p.Ser2251=)
c.6960C>G (p.Ser2320=)
c.6261C>G (p.Ser2087=)
c.7008C>G (p.Ser2336=)
 dbSNP
16g.3728033G=CA2202928451CREBBPc.7014C= (p.Ser2338=)
c.6900C= (p.Ser2300=)
c.6969C= (p.Ser2323=)
c.6597C= (p.Ser2199=)
c.6753C= (p.Ser2251=)
c.6960C= (p.Ser2320=)
c.6261C= (p.Ser2087=)
c.7008C= (p.Ser2336=)
16g.3728033G>TCA493393486CREBBPc.7014C>A (p.Ser2338=)
c.6900C>A (p.Ser2300=)
c.6969C>A (p.Ser2323=)
c.6597C>A (p.Ser2199=)
c.6753C>A (p.Ser2251=)
c.6960C>A (p.Ser2320=)
c.6261C>A (p.Ser2087=)
c.7008C>A (p.Ser2336=)
 dbSNP
16g.3728034G>ACA394550823CREBBPc.7013C>T (p.Ser2338Phe)
c.6899C>T (p.Ser2300Phe)
c.6968C>T (p.Ser2323Phe)
c.6596C>T (p.Ser2199Phe)
c.6752C>T (p.Ser2251Phe)
c.6959C>T (p.Ser2320Phe)
c.6260C>T (p.Ser2087Phe)
c.7007C>T (p.Ser2336Phe)
 dbSNP
16g.3728034G>CCA394550826CREBBPc.7013C>G (p.Ser2338Cys)
c.6899C>G (p.Ser2300Cys)
c.6968C>G (p.Ser2323Cys)
c.6596C>G (p.Ser2199Cys)
c.6752C>G (p.Ser2251Cys)
c.6959C>G (p.Ser2320Cys)
c.6260C>G (p.Ser2087Cys)
c.7007C>G (p.Ser2336Cys)
 dbSNP COSMIC
16g.3728034G>TCA394550824CREBBPc.7013C>A (p.Ser2338Tyr)
c.6899C>A (p.Ser2300Tyr)
c.6968C>A (p.Ser2323Tyr)
c.6596C>A (p.Ser2199Tyr)
c.6752C>A (p.Ser2251Tyr)
c.6959C>A (p.Ser2320Tyr)
c.6260C>A (p.Ser2087Tyr)
c.7007C>A (p.Ser2336Tyr)
16g.3728035A>CCA394550829CREBBPc.7012T>G (p.Ser2338Ala)
c.6898T>G (p.Ser2300Ala)
c.6967T>G (p.Ser2323Ala)
c.6595T>G (p.Ser2199Ala)
c.6751T>G (p.Ser2251Ala)
c.6958T>G (p.Ser2320Ala)
c.6259T>G (p.Ser2087Ala)
c.7006T>G (p.Ser2336Ala)
 dbSNP
16g.3728035A>GCA394550830CREBBPc.7012T>C (p.Ser2338Pro)
c.6898T>C (p.Ser2300Pro)
c.6967T>C (p.Ser2323Pro)
c.6595T>C (p.Ser2199Pro)
c.6751T>C (p.Ser2251Pro)
c.6958T>C (p.Ser2320Pro)
c.6259T>C (p.Ser2087Pro)
c.7006T>C (p.Ser2336Pro)
 dbSNP
16g.3728035A>TCA394550832CREBBPc.7012T>A (p.Ser2338Thr)
c.6898T>A (p.Ser2300Thr)
c.6967T>A (p.Ser2323Thr)
c.6595T>A (p.Ser2199Thr)
c.6751T>A (p.Ser2251Thr)
c.6958T>A (p.Ser2320Thr)
c.6259T>A (p.Ser2087Thr)
c.7006T>A (p.Ser2336Thr)
 dbSNP gnomAD v4
16g.3728036C>ACA493393492CREBBPc.7011G>T (p.Thr2337=)
c.6897G>T (p.Thr2299=)
c.6966G>T (p.Thr2322=)
c.6594G>T (p.Thr2198=)
c.6750G>T (p.Thr2250=)
c.6957G>T (p.Thr2319=)
c.6258G>T (p.Thr2086=)
c.7005G>T (p.Thr2335=)
 dbSNP gnomAD v4
16g.3728036C=CA2202928452CREBBPc.7011G= (p.Thr2337=)
c.6897G= (p.Thr2299=)
c.6966G= (p.Thr2322=)
c.6594G= (p.Thr2198=)
c.6750G= (p.Thr2250=)
c.6957G= (p.Thr2319=)
c.6258G= (p.Thr2086=)
c.7005G= (p.Thr2335=)
16g.3728036C>GCA493393493CREBBPc.7011G>C (p.Thr2337=)
c.6897G>C (p.Thr2299=)
c.6966G>C (p.Thr2322=)
c.6594G>C (p.Thr2198=)
c.6750G>C (p.Thr2250=)
c.6957G>C (p.Thr2319=)
c.6258G>C (p.Thr2086=)
c.7005G>C (p.Thr2335=)
 ClinVar dbSNP gnomAD v4
16g.3728036C>TCA7868964CREBBPc.7011G>A (p.Thr2337=)
c.6897G>A (p.Thr2299=)
c.6966G>A (p.Thr2322=)
c.6594G>A (p.Thr2198=)
c.6750G>A (p.Thr2250=)
c.6957G>A (p.Thr2319=)
c.6258G>A (p.Thr2086=)
c.7005G>A (p.Thr2335=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3728037G>ACA7868965CREBBPc.7010C>T (p.Thr2337Met)
c.6896C>T (p.Thr2299Met)
c.6965C>T (p.Thr2322Met)
c.6593C>T (p.Thr2198Met)
c.6749C>T (p.Thr2250Met)
c.6956C>T (p.Thr2319Met)
c.6257C>T (p.Thr2086Met)
c.7004C>T (p.Thr2335Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3728037G>CCA394550836CREBBPc.7010C>G (p.Thr2337Arg)
c.6896C>G (p.Thr2299Arg)
c.6965C>G (p.Thr2322Arg)
c.6593C>G (p.Thr2198Arg)
c.6749C>G (p.Thr2250Arg)
c.6956C>G (p.Thr2319Arg)
c.6257C>G (p.Thr2086Arg)
c.7004C>G (p.Thr2335Arg)
 dbSNP
16g.3728037G=CA2202928453CREBBPc.7010C= (p.Thr2337=)
c.6896C= (p.Thr2299=)
c.6965C= (p.Thr2322=)
c.6593C= (p.Thr2198=)
c.6749C= (p.Thr2250=)
c.6956C= (p.Thr2319=)
c.6257C= (p.Thr2086=)
c.7004C= (p.Thr2335=)
16g.3728037G>TCA394550838CREBBPc.7010C>A (p.Thr2337Lys)
c.6896C>A (p.Thr2299Lys)
c.6965C>A (p.Thr2322Lys)
c.6593C>A (p.Thr2198Lys)
c.6749C>A (p.Thr2250Lys)
c.6956C>A (p.Thr2319Lys)
c.6257C>A (p.Thr2086Lys)
c.7004C>A (p.Thr2335Lys)
16g.3728038T>ACA394550840CREBBPc.7009A>T (p.Thr2337Ser)
c.6895A>T (p.Thr2299Ser)
c.6964A>T (p.Thr2322Ser)
c.6592A>T (p.Thr2198Ser)
c.6748A>T (p.Thr2250Ser)
c.6955A>T (p.Thr2319Ser)
c.6256A>T (p.Thr2086Ser)
c.7003A>T (p.Thr2335Ser)
 gnomAD v4
16g.3728038T>CCA394550842CREBBPc.7009A>G (p.Thr2337Ala)
c.6895A>G (p.Thr2299Ala)
c.6964A>G (p.Thr2322Ala)
c.6592A>G (p.Thr2198Ala)
c.6748A>G (p.Thr2250Ala)
c.6955A>G (p.Thr2319Ala)
c.6256A>G (p.Thr2086Ala)
c.7003A>G (p.Thr2335Ala)
16g.3728038T>GCA394550844CREBBPc.7009A>C (p.Thr2337Pro)
c.6895A>C (p.Thr2299Pro)
c.6964A>C (p.Thr2322Pro)
c.6592A>C (p.Thr2198Pro)
c.6748A>C (p.Thr2250Pro)
c.6955A>C (p.Thr2319Pro)
c.6256A>C (p.Thr2086Pro)
c.7003A>C (p.Thr2335Pro)
16g.3728039G>ACA493393496CREBBPc.7008C>T (p.Ala2336=)
c.6894C>T (p.Ala2298=)
c.6963C>T (p.Ala2321=)
c.6591C>T (p.Ala2197=)
c.6747C>T (p.Ala2249=)
c.6954C>T (p.Ala2318=)
c.6255C>T (p.Ala2085=)
c.7002C>T (p.Ala2334=)
16g.3728039G>CCA493393494CREBBPc.7008C>G (p.Ala2336=)
c.6894C>G (p.Ala2298=)
c.6963C>G (p.Ala2321=)
c.6591C>G (p.Ala2197=)
c.6747C>G (p.Ala2249=)
c.6954C>G (p.Ala2318=)
c.6255C>G (p.Ala2085=)
c.7002C>G (p.Ala2334=)
 dbSNP gnomAD v4
16g.3728039G>TCA493393495CREBBPc.7008C>A (p.Ala2336=)
c.6894C>A (p.Ala2298=)
c.6963C>A (p.Ala2321=)
c.6591C>A (p.Ala2197=)
c.6747C>A (p.Ala2249=)
c.6954C>A (p.Ala2318=)
c.6255C>A (p.Ala2085=)
c.7002C>A (p.Ala2334=)
 dbSNP
16g.3728040G>ACA394550846CREBBPc.7007C>T (p.Ala2336Val)
c.6893C>T (p.Ala2298Val)
c.6962C>T (p.Ala2321Val)
c.6590C>T (p.Ala2197Val)
c.6746C>T (p.Ala2249Val)
c.6953C>T (p.Ala2318Val)
c.6254C>T (p.Ala2085Val)
c.7001C>T (p.Ala2334Val)
 dbSNP
16g.3728040G>CCA394550847CREBBPc.7007C>G (p.Ala2336Gly)
c.6893C>G (p.Ala2298Gly)
c.6962C>G (p.Ala2321Gly)
c.6590C>G (p.Ala2197Gly)
c.6746C>G (p.Ala2249Gly)
c.6953C>G (p.Ala2318Gly)
c.6254C>G (p.Ala2085Gly)
c.7001C>G (p.Ala2334Gly)
 dbSNP
16g.3728040G>TCA394550849CREBBPc.7007C>A (p.Ala2336Asp)
c.6893C>A (p.Ala2298Asp)
c.6962C>A (p.Ala2321Asp)
c.6590C>A (p.Ala2197Asp)
c.6746C>A (p.Ala2249Asp)
c.6953C>A (p.Ala2318Asp)
c.6254C>A (p.Ala2085Asp)
c.7001C>A (p.Ala2334Asp)
 dbSNP
16g.3728041C>ACA394550853CREBBPc.7006G>T (p.Ala2336Ser)
c.6892G>T (p.Ala2298Ser)
c.6961G>T (p.Ala2321Ser)
c.6589G>T (p.Ala2197Ser)
c.6745G>T (p.Ala2249Ser)
c.6952G>T (p.Ala2318Ser)
c.6253G>T (p.Ala2085Ser)
c.7000G>T (p.Ala2334Ser)
 dbSNP gnomAD v3 gnomAD v4
16g.3728041C=CA2202928454CREBBPc.7006G= (p.Ala2336=)
c.6892G= (p.Ala2298=)
c.6961G= (p.Ala2321=)
c.6589G= (p.Ala2197=)
c.6745G= (p.Ala2249=)
c.6952G= (p.Ala2318=)
c.6253G= (p.Ala2085=)
c.7000G= (p.Ala2334=)
16g.3728041C>GCA394550850CREBBPc.7006G>C (p.Ala2336Pro)
c.6892G>C (p.Ala2298Pro)
c.6961G>C (p.Ala2321Pro)
c.6589G>C (p.Ala2197Pro)
c.6745G>C (p.Ala2249Pro)
c.6952G>C (p.Ala2318Pro)
c.6253G>C (p.Ala2085Pro)
c.7000G>C (p.Ala2334Pro)
 dbSNP
16g.3728041C>TCA276971136CREBBPc.7006G>A (p.Ala2336Thr)
c.6892G>A (p.Ala2298Thr)
c.6961G>A (p.Ala2321Thr)
c.6589G>A (p.Ala2197Thr)
c.6745G>A (p.Ala2249Thr)
c.6952G>A (p.Ala2318Thr)
c.6253G>A (p.Ala2085Thr)
c.7000G>A (p.Ala2334Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.3728042G>ACA276971138CREBBPc.7005C>T (p.Ile2335=)
c.6891C>T (p.Ile2297=)
c.6960C>T (p.Ile2320=)
c.6588C>T (p.Ile2196=)
c.6744C>T (p.Ile2248=)
c.6951C>T (p.Ile2317=)
c.6252C>T (p.Ile2084=)
c.6999C>T (p.Ile2333=)
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC
16g.3728042G>CCA7868967CREBBPc.7005C>G (p.Ile2335Met)
c.6891C>G (p.Ile2297Met)
c.6960C>G (p.Ile2320Met)
c.6588C>G (p.Ile2196Met)
c.6744C>G (p.Ile2248Met)
c.6951C>G (p.Ile2317Met)
c.6252C>G (p.Ile2084Met)
c.6999C>G (p.Ile2333Met)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3728042G=CA2202928455CREBBPc.7005C= (p.Ile2335=)
c.6891C= (p.Ile2297=)
c.6960C= (p.Ile2320=)
c.6588C= (p.Ile2196=)
c.6744C= (p.Ile2248=)
c.6951C= (p.Ile2317=)
c.6252C= (p.Ile2084=)
c.6999C= (p.Ile2333=)
16g.3728042G>TCA7868966CREBBPc.7005C>A (p.Ile2335=)
c.6891C>A (p.Ile2297=)
c.6960C>A (p.Ile2320=)
c.6588C>A (p.Ile2196=)
c.6744C>A (p.Ile2248=)
c.6951C>A (p.Ile2317=)
c.6252C>A (p.Ile2084=)
c.6999C>A (p.Ile2333=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3728043A>CCA394550858CREBBPc.7004T>G (p.Ile2335Ser)
c.6890T>G (p.Ile2297Ser)
c.6959T>G (p.Ile2320Ser)
c.6587T>G (p.Ile2196Ser)
c.6743T>G (p.Ile2248Ser)
c.6950T>G (p.Ile2317Ser)
c.6251T>G (p.Ile2084Ser)
c.6998T>G (p.Ile2333Ser)
 dbSNP
16g.3728043A>GCA394550860CREBBPc.7004T>C (p.Ile2335Thr)
c.6890T>C (p.Ile2297Thr)
c.6959T>C (p.Ile2320Thr)
c.6587T>C (p.Ile2196Thr)
c.6743T>C (p.Ile2248Thr)
c.6950T>C (p.Ile2317Thr)
c.6251T>C (p.Ile2084Thr)
c.6998T>C (p.Ile2333Thr)
16g.3728043A>TCA394550862CREBBPc.7004T>A (p.Ile2335Asn)
c.6890T>A (p.Ile2297Asn)
c.6959T>A (p.Ile2320Asn)
c.6587T>A (p.Ile2196Asn)
c.6743T>A (p.Ile2248Asn)
c.6950T>A (p.Ile2317Asn)
c.6251T>A (p.Ile2084Asn)
c.6998T>A (p.Ile2333Asn)
 dbSNP
16g.3728044T>ACA394550863CREBBPc.7003A>T (p.Ile2335Phe)
c.6889A>T (p.Ile2297Phe)
c.6958A>T (p.Ile2320Phe)
c.6586A>T (p.Ile2196Phe)
c.6742A>T (p.Ile2248Phe)
c.6949A>T (p.Ile2317Phe)
c.6250A>T (p.Ile2084Phe)
c.6997A>T (p.Ile2333Phe)
 dbSNP gnomAD v4
16g.3728044T>CCA394550864CREBBPc.7003A>G (p.Ile2335Val)
c.6889A>G (p.Ile2297Val)
c.6958A>G (p.Ile2320Val)
c.6586A>G (p.Ile2196Val)
c.6742A>G (p.Ile2248Val)
c.6949A>G (p.Ile2317Val)
c.6250A>G (p.Ile2084Val)
c.6997A>G (p.Ile2333Val)
 dbSNP
16g.3728044T>GCA394550866CREBBPc.7003A>C (p.Ile2335Leu)
c.6889A>C (p.Ile2297Leu)
c.6958A>C (p.Ile2320Leu)
c.6586A>C (p.Ile2196Leu)
c.6742A>C (p.Ile2248Leu)
c.6949A>C (p.Ile2317Leu)
c.6250A>C (p.Ile2084Leu)
c.6997A>C (p.Ile2333Leu)
 dbSNP
16g.3728045C>ACA394550868CREBBPc.7002G>T (p.Gln2334His)
c.6888G>T (p.Gln2296His)
c.6957G>T (p.Gln2319His)
c.6585G>T (p.Gln2195His)
c.6741G>T (p.Gln2247His)
c.6948G>T (p.Gln2316His)
c.6249G>T (p.Gln2083His)
c.6996G>T (p.Gln2332His)
 dbSNP
16g.3728045C=CA2202928456CREBBPc.7002G= (p.Gln2334=)
c.6888G= (p.Gln2296=)
c.6957G= (p.Gln2319=)
c.6585G= (p.Gln2195=)
c.6741G= (p.Gln2247=)
c.6948G= (p.Gln2316=)
c.6249G= (p.Gln2083=)
c.6996G= (p.Gln2332=)
16g.3728045C>GCA394550869CREBBPc.7002G>C (p.Gln2334His)
c.6888G>C (p.Gln2296His)
c.6957G>C (p.Gln2319His)
c.6585G>C (p.Gln2195His)
c.6741G>C (p.Gln2247His)
c.6948G>C (p.Gln2316His)
c.6249G>C (p.Gln2083His)
c.6996G>C (p.Gln2332His)
 ClinVar dbSNP
16g.3728045C>TCA493393497CREBBPc.7002G>A (p.Gln2334=)
c.6888G>A (p.Gln2296=)
c.6957G>A (p.Gln2319=)
c.6585G>A (p.Gln2195=)
c.6741G>A (p.Gln2247=)
c.6948G>A (p.Gln2316=)
c.6249G>A (p.Gln2083=)
c.6996G>A (p.Gln2332=)
 dbSNP
16g.3728046T>ACA394550872CREBBPc.7001A>T (p.Gln2334Leu)
c.6887A>T (p.Gln2296Leu)
c.6956A>T (p.Gln2319Leu)
c.6584A>T (p.Gln2195Leu)
c.6740A>T (p.Gln2247Leu)
c.6947A>T (p.Gln2316Leu)
c.6248A>T (p.Gln2083Leu)
c.6995A>T (p.Gln2332Leu)
16g.3728046T>CCA394550875CREBBPc.7001A>G (p.Gln2334Arg)
c.6887A>G (p.Gln2296Arg)
c.6956A>G (p.Gln2319Arg)
c.6584A>G (p.Gln2195Arg)
c.6740A>G (p.Gln2247Arg)
c.6947A>G (p.Gln2316Arg)
c.6248A>G (p.Gln2083Arg)
c.6995A>G (p.Gln2332Arg)
16g.3728046T>GCA394550873CREBBPc.7001A>C (p.Gln2334Pro)
c.6887A>C (p.Gln2296Pro)
c.6956A>C (p.Gln2319Pro)
c.6584A>C (p.Gln2195Pro)
c.6740A>C (p.Gln2247Pro)
c.6947A>C (p.Gln2316Pro)
c.6248A>C (p.Gln2083Pro)
c.6995A>C (p.Gln2332Pro)
16g.3728047G>ACA394550877CREBBPc.7000C>T (p.Gln2334Ter)
c.6886C>T (p.Gln2296Ter)
c.6955C>T (p.Gln2319Ter)
c.6583C>T (p.Gln2195Ter)
c.6739C>T (p.Gln2247Ter)
c.6946C>T (p.Gln2316Ter)
c.6247C>T (p.Gln2083Ter)
c.6994C>T (p.Gln2332Ter)
 dbSNP
16g.3728047G>CCA394550881CREBBPc.7000C>G (p.Gln2334Glu)
c.6886C>G (p.Gln2296Glu)
c.6955C>G (p.Gln2319Glu)
c.6583C>G (p.Gln2195Glu)
c.6739C>G (p.Gln2247Glu)
c.6946C>G (p.Gln2316Glu)
c.6247C>G (p.Gln2083Glu)
c.6994C>G (p.Gln2332Glu)
 dbSNP
16g.3728047G>TCA394550879CREBBPc.7000C>A (p.Gln2334Lys)
c.6886C>A (p.Gln2296Lys)
c.6955C>A (p.Gln2319Lys)
c.6583C>A (p.Gln2195Lys)
c.6739C>A (p.Gln2247Lys)
c.6946C>A (p.Gln2316Lys)
c.6247C>A (p.Gln2083Lys)
c.6994C>A (p.Gln2332Lys)
 dbSNP
16g.3728048C>ACA394550883CREBBPc.6999G>T (p.Gln2333His)
c.6885G>T (p.Gln2295His)
c.6954G>T (p.Gln2318His)
c.6582G>T (p.Gln2194His)
c.6738G>T (p.Gln2246His)
c.6945G>T (p.Gln2315His)
c.6246G>T (p.Gln2082His)
c.6993G>T (p.Gln2331His)
 dbSNP
16g.3728048C=CA2202928457CREBBPc.6999G= (p.Gln2333=)
c.6885G= (p.Gln2295=)
c.6954G= (p.Gln2318=)
c.6582G= (p.Gln2194=)
c.6738G= (p.Gln2246=)
c.6945G= (p.Gln2315=)
c.6246G= (p.Gln2082=)
c.6993G= (p.Gln2331=)
16g.3728048C>GCA394550885CREBBPc.6999G>C (p.Gln2333His)
c.6885G>C (p.Gln2295His)
c.6954G>C (p.Gln2318His)
c.6582G>C (p.Gln2194His)
c.6738G>C (p.Gln2246His)
c.6945G>C (p.Gln2315His)
c.6246G>C (p.Gln2082His)
c.6993G>C (p.Gln2331His)
 dbSNP
16g.3728048C>TCA493393498CREBBPc.6999G>A (p.Gln2333=)
c.6885G>A (p.Gln2295=)
c.6954G>A (p.Gln2318=)
c.6582G>A (p.Gln2194=)
c.6738G>A (p.Gln2246=)
c.6945G>A (p.Gln2315=)
c.6246G>A (p.Gln2082=)
c.6993G>A (p.Gln2331=)
 dbSNP gnomAD v4
16g.3728049T>ACA394550887CREBBPc.6998A>T (p.Gln2333Leu)
c.6884A>T (p.Gln2295Leu)
c.6953A>T (p.Gln2318Leu)
c.6581A>T (p.Gln2194Leu)
c.6737A>T (p.Gln2246Leu)
c.6944A>T (p.Gln2315Leu)
c.6245A>T (p.Gln2082Leu)
c.6992A>T (p.Gln2331Leu)
 gnomAD v4
16g.3728049T>CCA394550889CREBBPc.6998A>G (p.Gln2333Arg)
c.6884A>G (p.Gln2295Arg)
c.6953A>G (p.Gln2318Arg)
c.6581A>G (p.Gln2194Arg)
c.6737A>G (p.Gln2246Arg)
c.6944A>G (p.Gln2315Arg)
c.6245A>G (p.Gln2082Arg)
c.6992A>G (p.Gln2331Arg)
 dbSNP gnomAD v4
16g.3728049T>GCA394550891CREBBPc.6998A>C (p.Gln2333Pro)
c.6884A>C (p.Gln2295Pro)
c.6953A>C (p.Gln2318Pro)
c.6581A>C (p.Gln2194Pro)
c.6737A>C (p.Gln2246Pro)
c.6944A>C (p.Gln2315Pro)
c.6245A>C (p.Gln2082Pro)
c.6992A>C (p.Gln2331Pro)
16g.3728049T=CA2202928458CREBBPc.6998A= (p.Gln2333=)
c.6884A= (p.Gln2295=)
c.6953A= (p.Gln2318=)
c.6581A= (p.Gln2194=)
c.6737A= (p.Gln2246=)
c.6944A= (p.Gln2315=)
c.6245A= (p.Gln2082=)
c.6992A= (p.Gln2331=)
16g.3728050G>ACA394550893CREBBPc.6997C>T (p.Gln2333Ter)
c.6883C>T (p.Gln2295Ter)
c.6952C>T (p.Gln2318Ter)
c.6580C>T (p.Gln2194Ter)
c.6736C>T (p.Gln2246Ter)
c.6943C>T (p.Gln2315Ter)
c.6244C>T (p.Gln2082Ter)
c.6991C>T (p.Gln2331Ter)
 dbSNP
16g.3728050G>CCA394550895CREBBPc.6997C>G (p.Gln2333Glu)
c.6883C>G (p.Gln2295Glu)
c.6952C>G (p.Gln2318Glu)
c.6580C>G (p.Gln2194Glu)
c.6736C>G (p.Gln2246Glu)
c.6943C>G (p.Gln2315Glu)
c.6244C>G (p.Gln2082Glu)
c.6991C>G (p.Gln2331Glu)
 dbSNP
16g.3728050G=CA2202928459CREBBPc.6997C= (p.Gln2333=)
c.6883C= (p.Gln2295=)
c.6952C= (p.Gln2318=)
c.6580C= (p.Gln2194=)
c.6736C= (p.Gln2246=)
c.6943C= (p.Gln2315=)
c.6244C= (p.Gln2082=)
c.6991C= (p.Gln2331=)
16g.3728050G>TCA7868968CREBBPc.6997C>A (p.Gln2333Lys)
c.6883C>A (p.Gln2295Lys)
c.6952C>A (p.Gln2318Lys)
c.6580C>A (p.Gln2194Lys)
c.6736C>A (p.Gln2246Lys)
c.6943C>A (p.Gln2315Lys)
c.6244C>A (p.Gln2082Lys)
c.6991C>A (p.Gln2331Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3728051delCA2731849153CREBBPc.6997del (p.Gln2333SerfsTer?)
c.6883del (p.Gln2295SerfsTer?)
c.6952del (p.Gln2318SerfsTer?)
c.6580del (p.Gln2194SerfsTer?)
c.6736del (p.Gln2246SerfsTer?)
c.6943del (p.Gln2315SerfsTer?)
c.6244del (p.Gln2082SerfsTer?)
c.6991del (p.Gln2331SerfsTer?)
 dbSNP
16g.3728051G>ACA493393499CREBBPc.6996C>T (p.Gly2332=)
c.6882C>T (p.Gly2294=)
c.6951C>T (p.Gly2317=)
c.6579C>T (p.Gly2193=)
c.6735C>T (p.Gly2245=)
c.6942C>T (p.Gly2314=)
c.6243C>T (p.Gly2081=)
c.6990C>T (p.Gly2330=)
16g.3728051G>CCA493393500CREBBPc.6996C>G (p.Gly2332=)
c.6882C>G (p.Gly2294=)
c.6951C>G (p.Gly2317=)
c.6579C>G (p.Gly2193=)
c.6735C>G (p.Gly2245=)
c.6942C>G (p.Gly2314=)
c.6243C>G (p.Gly2081=)
c.6990C>G (p.Gly2330=)
16g.3728051G>TCA493393502CREBBPc.6996C>A (p.Gly2332=)
c.6882C>A (p.Gly2294=)
c.6951C>A (p.Gly2317=)
c.6579C>A (p.Gly2193=)
c.6735C>A (p.Gly2245=)
c.6942C>A (p.Gly2314=)
c.6243C>A (p.Gly2081=)
c.6990C>A (p.Gly2330=)
16g.3728052C>ACA394550897CREBBPc.6995G>T (p.Gly2332Val)
c.6881G>T (p.Gly2294Val)
c.6950G>T (p.Gly2317Val)
c.6578G>T (p.Gly2193Val)
c.6734G>T (p.Gly2245Val)
c.6941G>T (p.Gly2314Val)
c.6242G>T (p.Gly2081Val)
c.6989G>T (p.Gly2330Val)
 dbSNP
16g.3728052C>GCA394550899CREBBPc.6995G>C (p.Gly2332Ala)
c.6881G>C (p.Gly2294Ala)
c.6950G>C (p.Gly2317Ala)
c.6578G>C (p.Gly2193Ala)
c.6734G>C (p.Gly2245Ala)
c.6941G>C (p.Gly2314Ala)
c.6242G>C (p.Gly2081Ala)
c.6989G>C (p.Gly2330Ala)
 dbSNP
16g.3728052C>TCA394550901CREBBPc.6995G>A (p.Gly2332Asp)
c.6881G>A (p.Gly2294Asp)
c.6950G>A (p.Gly2317Asp)
c.6578G>A (p.Gly2193Asp)
c.6734G>A (p.Gly2245Asp)
c.6941G>A (p.Gly2314Asp)
c.6242G>A (p.Gly2081Asp)
c.6989G>A (p.Gly2330Asp)
 dbSNP
16g.3728053C>ACA394550903CREBBPc.6994G>T (p.Gly2332Cys)
c.6880G>T (p.Gly2294Cys)
c.6949G>T (p.Gly2317Cys)
c.6577G>T (p.Gly2193Cys)
c.6733G>T (p.Gly2245Cys)
c.6940G>T (p.Gly2314Cys)
c.6241G>T (p.Gly2081Cys)
c.6988G>T (p.Gly2330Cys)
 dbSNP
16g.3728053C>GCA394550905CREBBPc.6994G>C (p.Gly2332Arg)
c.6880G>C (p.Gly2294Arg)
c.6949G>C (p.Gly2317Arg)
c.6577G>C (p.Gly2193Arg)
c.6733G>C (p.Gly2245Arg)
c.6940G>C (p.Gly2314Arg)
c.6241G>C (p.Gly2081Arg)
c.6988G>C (p.Gly2330Arg)
 dbSNP
16g.3728053C>TCA394550907CREBBPc.6994G>A (p.Gly2332Ser)
c.6880G>A (p.Gly2294Ser)
c.6949G>A (p.Gly2317Ser)
c.6577G>A (p.Gly2193Ser)
c.6733G>A (p.Gly2245Ser)
c.6940G>A (p.Gly2314Ser)
c.6241G>A (p.Gly2081Ser)
c.6988G>A (p.Gly2330Ser)
 dbSNP gnomAD v4
16g.3728054A>CCA493393503CREBBPc.6993T>G (p.Pro2331=)
c.6879T>G (p.Pro2293=)
c.6948T>G (p.Pro2316=)
c.6576T>G (p.Pro2192=)
c.6732T>G (p.Pro2244=)
c.6939T>G (p.Pro2313=)
c.6240T>G (p.Pro2080=)
c.6987T>G (p.Pro2329=)
16g.3728054A>GCA493393504CREBBPc.6993T>C (p.Pro2331=)
c.6879T>C (p.Pro2293=)
c.6948T>C (p.Pro2316=)
c.6576T>C (p.Pro2192=)
c.6732T>C (p.Pro2244=)
c.6939T>C (p.Pro2313=)
c.6240T>C (p.Pro2080=)
c.6987T>C (p.Pro2329=)
16g.3728054A>TCA493393505CREBBPc.6993T>A (p.Pro2331=)
c.6879T>A (p.Pro2293=)
c.6948T>A (p.Pro2316=)
c.6576T>A (p.Pro2192=)
c.6732T>A (p.Pro2244=)
c.6939T>A (p.Pro2313=)
c.6240T>A (p.Pro2080=)
c.6987T>A (p.Pro2329=)
16g.3728055G>ACA394550913CREBBPc.6992C>T (p.Pro2331Leu)
c.6878C>T (p.Pro2293Leu)
c.6947C>T (p.Pro2316Leu)
c.6575C>T (p.Pro2192Leu)
c.6731C>T (p.Pro2244Leu)
c.6938C>T (p.Pro2313Leu)
c.6239C>T (p.Pro2080Leu)
c.6986C>T (p.Pro2329Leu)
16g.3728055G>CCA394550909CREBBPc.6992C>G (p.Pro2331Arg)
c.6878C>G (p.Pro2293Arg)
c.6947C>G (p.Pro2316Arg)
c.6575C>G (p.Pro2192Arg)
c.6731C>G (p.Pro2244Arg)
c.6938C>G (p.Pro2313Arg)
c.6239C>G (p.Pro2080Arg)
c.6986C>G (p.Pro2329Arg)
16g.3728055G>TCA394550911CREBBPc.6992C>A (p.Pro2331His)
c.6878C>A (p.Pro2293His)
c.6947C>A (p.Pro2316His)
c.6575C>A (p.Pro2192His)
c.6731C>A (p.Pro2244His)
c.6938C>A (p.Pro2313His)
c.6239C>A (p.Pro2080His)
c.6986C>A (p.Pro2329His)
16g.3728056G>ACA394550915CREBBPc.6991C>T (p.Pro2331Ser)
c.6877C>T (p.Pro2293Ser)
c.6946C>T (p.Pro2316Ser)
c.6574C>T (p.Pro2192Ser)
c.6730C>T (p.Pro2244Ser)
c.6937C>T (p.Pro2313Ser)
c.6238C>T (p.Pro2080Ser)
c.6985C>T (p.Pro2329Ser)
 dbSNP
16g.3728056G>CCA394550916CREBBPc.6991C>G (p.Pro2331Ala)
c.6877C>G (p.Pro2293Ala)
c.6946C>G (p.Pro2316Ala)
c.6574C>G (p.Pro2192Ala)
c.6730C>G (p.Pro2244Ala)
c.6937C>G (p.Pro2313Ala)
c.6238C>G (p.Pro2080Ala)
c.6985C>G (p.Pro2329Ala)
 dbSNP
16g.3728056G>TCA394550918CREBBPc.6991C>A (p.Pro2331Thr)
c.6877C>A (p.Pro2293Thr)
c.6946C>A (p.Pro2316Thr)
c.6574C>A (p.Pro2192Thr)
c.6730C>A (p.Pro2244Thr)
c.6937C>A (p.Pro2313Thr)
c.6238C>A (p.Pro2080Thr)
c.6985C>A (p.Pro2329Thr)
 dbSNP
16g.3728057G>ACA493393507CREBBPc.6990C>T (p.Leu2330=)
c.6876C>T (p.Leu2292=)
c.6945C>T (p.Leu2315=)
c.6573C>T (p.Leu2191=)
c.6729C>T (p.Leu2243=)
c.6936C>T (p.Leu2312=)
c.6237C>T (p.Leu2079=)
c.6984C>T (p.Leu2328=)
 dbSNP gnomAD v2 gnomAD v4
16g.3728057G>CCA493393509CREBBPc.6990C>G (p.Leu2330=)
c.6876C>G (p.Leu2292=)
c.6945C>G (p.Leu2315=)
c.6573C>G (p.Leu2191=)
c.6729C>G (p.Leu2243=)
c.6936C>G (p.Leu2312=)
c.6237C>G (p.Leu2079=)
c.6984C>G (p.Leu2328=)
 dbSNP gnomAD v2 gnomAD v4
16g.3728057G=CA2202928460CREBBPc.6990C= (p.Leu2330=)
c.6876C= (p.Leu2292=)
c.6945C= (p.Leu2315=)
c.6573C= (p.Leu2191=)
c.6729C= (p.Leu2243=)
c.6936C= (p.Leu2312=)
c.6237C= (p.Leu2079=)
c.6984C= (p.Leu2328=)
16g.3728057G>TCA493393508CREBBPc.6990C>A (p.Leu2330=)
c.6876C>A (p.Leu2292=)
c.6945C>A (p.Leu2315=)
c.6573C>A (p.Leu2191=)
c.6729C>A (p.Leu2243=)
c.6936C>A (p.Leu2312=)
c.6237C>A (p.Leu2079=)
c.6984C>A (p.Leu2328=)
 dbSNP gnomAD v3 gnomAD v4
16g.3728058A=CA2202928461CREBBPc.6989T= (p.Leu2330=)
c.6875T= (p.Leu2292=)
c.6944T= (p.Leu2315=)
c.6572T= (p.Leu2191=)
c.6728T= (p.Leu2243=)
c.6935T= (p.Leu2312=)
c.6236T= (p.Leu2079=)
c.6983T= (p.Leu2328=)
16g.3728058A>CCA394550921CREBBPc.6989T>G (p.Leu2330Arg)
c.6875T>G (p.Leu2292Arg)
c.6944T>G (p.Leu2315Arg)
c.6572T>G (p.Leu2191Arg)
c.6728T>G (p.Leu2243Arg)
c.6935T>G (p.Leu2312Arg)
c.6236T>G (p.Leu2079Arg)
c.6983T>G (p.Leu2328Arg)
 dbSNP COSMIC
16g.3728058A>GCA394550922CREBBPc.6989T>C (p.Leu2330Pro)
c.6875T>C (p.Leu2292Pro)
c.6944T>C (p.Leu2315Pro)
c.6572T>C (p.Leu2191Pro)
c.6728T>C (p.Leu2243Pro)
c.6935T>C (p.Leu2312Pro)
c.6236T>C (p.Leu2079Pro)
c.6983T>C (p.Leu2328Pro)
 dbSNP
16g.3728058A>TCA394550924CREBBPc.6989T>A (p.Leu2330His)
c.6875T>A (p.Leu2292His)
c.6944T>A (p.Leu2315His)
c.6572T>A (p.Leu2191His)
c.6728T>A (p.Leu2243His)
c.6935T>A (p.Leu2312His)
c.6236T>A (p.Leu2079His)
c.6983T>A (p.Leu2328His)
 dbSNP
16g.3728059G>ACA16620193CREBBPc.6988C>T (p.Leu2330Phe)
c.6874C>T (p.Leu2292Phe)
c.6943C>T (p.Leu2315Phe)
c.6571C>T (p.Leu2191Phe)
c.6727C>T (p.Leu2243Phe)
c.6934C>T (p.Leu2312Phe)
c.6235C>T (p.Leu2079Phe)
c.6982C>T (p.Leu2328Phe)
 ClinVar dbSNP
16g.3728059G>CCA394550927CREBBPc.6988C>G (p.Leu2330Val)
c.6874C>G (p.Leu2292Val)
c.6943C>G (p.Leu2315Val)
c.6571C>G (p.Leu2191Val)
c.6727C>G (p.Leu2243Val)
c.6934C>G (p.Leu2312Val)
c.6235C>G (p.Leu2079Val)
c.6982C>G (p.Leu2328Val)
 ClinVar dbSNP
16g.3728059G=CA2202928462CREBBPc.6988C= (p.Leu2330=)
c.6874C= (p.Leu2292=)
c.6943C= (p.Leu2315=)
c.6571C= (p.Leu2191=)
c.6727C= (p.Leu2243=)
c.6934C= (p.Leu2312=)
c.6235C= (p.Leu2079=)
c.6982C= (p.Leu2328=)
16g.3728059G>TCA394550928CREBBPc.6988C>A (p.Leu2330Ile)
c.6874C>A (p.Leu2292Ile)
c.6943C>A (p.Leu2315Ile)
c.6571C>A (p.Leu2191Ile)
c.6727C>A (p.Leu2243Ile)
c.6934C>A (p.Leu2312Ile)
c.6235C>A (p.Leu2079Ile)
c.6982C>A (p.Leu2328Ile)
16g.3728060A>CCA394550930CREBBPc.6987T>G (p.His2329Gln)
c.6873T>G (p.His2291Gln)
c.6942T>G (p.His2314Gln)
c.6570T>G (p.His2190Gln)
c.6726T>G (p.His2242Gln)
c.6933T>G (p.His2311Gln)
c.6234T>G (p.His2078Gln)
c.6981T>G (p.His2327Gln)
16g.3728060A>GCA493393510CREBBPc.6987T>C (p.His2329=)
c.6873T>C (p.His2291=)
c.6942T>C (p.His2314=)
c.6570T>C (p.His2190=)
c.6726T>C (p.His2242=)
c.6933T>C (p.His2311=)
c.6234T>C (p.His2078=)
c.6981T>C (p.His2327=)
 dbSNP
16g.3728060A>TCA394550932CREBBPc.6987T>A (p.His2329Gln)
c.6873T>A (p.His2291Gln)
c.6942T>A (p.His2314Gln)
c.6570T>A (p.His2190Gln)
c.6726T>A (p.His2242Gln)
c.6933T>A (p.His2311Gln)
c.6234T>A (p.His2078Gln)
c.6981T>A (p.His2327Gln)
 dbSNP
16g.3728061T>ACA394550936CREBBPc.6986A>T (p.His2329Leu)
c.6872A>T (p.His2291Leu)
c.6941A>T (p.His2314Leu)
c.6569A>T (p.His2190Leu)
c.6725A>T (p.His2242Leu)
c.6932A>T (p.His2311Leu)
c.6233A>T (p.His2078Leu)
c.6980A>T (p.His2327Leu)
 dbSNP
16g.3728061T>CCA7868969CREBBPc.6986A>G (p.His2329Arg)
c.6872A>G (p.His2291Arg)
c.6941A>G (p.His2314Arg)
c.6569A>G (p.His2190Arg)
c.6725A>G (p.His2242Arg)
c.6932A>G (p.His2311Arg)
c.6233A>G (p.His2078Arg)
c.6980A>G (p.His2327Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.3728061T>GCA394550934CREBBPc.6986A>C (p.His2329Pro)
c.6872A>C (p.His2291Pro)
c.6941A>C (p.His2314Pro)
c.6569A>C (p.His2190Pro)
c.6725A>C (p.His2242Pro)
c.6932A>C (p.His2311Pro)
c.6233A>C (p.His2078Pro)
c.6980A>C (p.His2327Pro)
 dbSNP
16g.3728061T=CA2202928463CREBBPc.6986A= (p.His2329=)
c.6872A= (p.His2291=)
c.6941A= (p.His2314=)
c.6569A= (p.His2190=)
c.6725A= (p.His2242=)
c.6932A= (p.His2311=)
c.6233A= (p.His2078=)
c.6980A= (p.His2327=)
16g.3728062G>ACA394550939CREBBPc.6985C>T (p.His2329Tyr)
c.6871C>T (p.His2291Tyr)
c.6940C>T (p.His2314Tyr)
c.6568C>T (p.His2190Tyr)
c.6724C>T (p.His2242Tyr)
c.6931C>T (p.His2311Tyr)
c.6232C>T (p.His2078Tyr)
c.6979C>T (p.His2327Tyr)
 dbSNP gnomAD v4
16g.3728062G>CCA394550940CREBBPc.6985C>G (p.His2329Asp)
c.6871C>G (p.His2291Asp)
c.6940C>G (p.His2314Asp)
c.6568C>G (p.His2190Asp)
c.6724C>G (p.His2242Asp)
c.6931C>G (p.His2311Asp)
c.6232C>G (p.His2078Asp)
c.6979C>G (p.His2327Asp)
 dbSNP
16g.3728062G>TCA394550942CREBBPc.6985C>A (p.His2329Asn)
c.6871C>A (p.His2291Asn)
c.6940C>A (p.His2314Asn)
c.6568C>A (p.His2190Asn)
c.6724C>A (p.His2242Asn)
c.6931C>A (p.His2311Asn)
c.6232C>A (p.His2078Asn)
c.6979C>A (p.His2327Asn)
 gnomAD v4
16g.3728063C>ACA7868970CREBBPc.6984G>T (p.Ser2328=)
c.6870G>T (p.Ser2290=)
c.6939G>T (p.Ser2313=)
c.6567G>T (p.Ser2189=)
c.6723G>T (p.Ser2241=)
c.6930G>T (p.Ser2310=)
c.6231G>T (p.Ser2077=)
c.6978G>T (p.Ser2326=)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.3728063C=CA2202928464CREBBPc.6984G= (p.Ser2328=)
c.6870G= (p.Ser2290=)
c.6939G= (p.Ser2313=)
c.6567G= (p.Ser2189=)
c.6723G= (p.Ser2241=)
c.6930G= (p.Ser2310=)
c.6231G= (p.Ser2077=)
c.6978G= (p.Ser2326=)
16g.3728063C>GCA7868971CREBBPc.6984G>C (p.Ser2328=)
c.6870G>C (p.Ser2290=)
c.6939G>C (p.Ser2313=)
c.6567G>C (p.Ser2189=)
c.6723G>C (p.Ser2241=)
c.6930G>C (p.Ser2310=)
c.6231G>C (p.Ser2077=)
c.6978G>C (p.Ser2326=)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.3728063C>TCA493393514CREBBPc.6984G>A (p.Ser2328=)
c.6870G>A (p.Ser2290=)
c.6939G>A (p.Ser2313=)
c.6567G>A (p.Ser2189=)
c.6723G>A (p.Ser2241=)
c.6930G>A (p.Ser2310=)
c.6231G>A (p.Ser2077=)
c.6978G>A (p.Ser2326=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC

Number of alleles fetched