Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.3736645_3736670delCA2739290734CREBBPc.4543_4560+8del
c.4429_4446+8del
c.3178_3195+8del
n.333_350+8del
n.364_389del
n.3366_3383+8del
c.4498_4515+8del
c.4126_4143+8del
c.4282_4299+8del
c.4489_4506+8del
c.3790_3807+8del
c.4537_4554+8del
16g.3736666A>CCA394563350CREBBPc.4544T>G (p.Ile1515Ser)
c.4430T>G (p.Ile1477Ser)
c.3179T>G (p.Ile1060Ser)
n.334T>G
n.365T>G
n.3367T>G
c.4499T>G (p.Ile1500Ser)
c.4127T>G (p.Ile1376Ser)
c.4283T>G (p.Ile1428Ser)
c.4490T>G (p.Ile1497Ser)
c.3791T>G (p.Ile1264Ser)
c.4538T>G (p.Ile1513Ser)
 dbSNP
16g.3736666A>GCA394563348CREBBPc.4544T>C (p.Ile1515Thr)
c.4430T>C (p.Ile1477Thr)
c.3179T>C (p.Ile1060Thr)
n.334T>C
n.365T>C
n.3367T>C
c.4499T>C (p.Ile1500Thr)
c.4127T>C (p.Ile1376Thr)
c.4283T>C (p.Ile1428Thr)
c.4490T>C (p.Ile1497Thr)
c.3791T>C (p.Ile1264Thr)
c.4538T>C (p.Ile1513Thr)
16g.3736666A>TCA394563349CREBBPc.4544T>A (p.Ile1515Asn)
c.4430T>A (p.Ile1477Asn)
c.3179T>A (p.Ile1060Asn)
n.334T>A
n.365T>A
n.3367T>A
c.4499T>A (p.Ile1500Asn)
c.4127T>A (p.Ile1376Asn)
c.4283T>A (p.Ile1428Asn)
c.4490T>A (p.Ile1497Asn)
c.3791T>A (p.Ile1264Asn)
c.4538T>A (p.Ile1513Asn)
 dbSNP
16g.3736667T>ACA394563353CREBBPc.4543A>T (p.Ile1515Phe)
c.4429A>T (p.Ile1477Phe)
c.3178A>T (p.Ile1060Phe)
n.333A>T
n.364A>T
n.3366A>T
c.4498A>T (p.Ile1500Phe)
c.4126A>T (p.Ile1376Phe)
c.4282A>T (p.Ile1428Phe)
c.4489A>T (p.Ile1497Phe)
c.3790A>T (p.Ile1264Phe)
c.4537A>T (p.Ile1513Phe)
 dbSNP
16g.3736667T>CCA394563363CREBBPc.4543A>G (p.Ile1515Val)
c.4429A>G (p.Ile1477Val)
c.3178A>G (p.Ile1060Val)
n.333A>G
n.364A>G
n.3366A>G
c.4498A>G (p.Ile1500Val)
c.4126A>G (p.Ile1376Val)
c.4282A>G (p.Ile1428Val)
c.4489A>G (p.Ile1497Val)
c.3790A>G (p.Ile1264Val)
c.4537A>G (p.Ile1513Val)
16g.3736667T>GCA394563360CREBBPc.4543A>C (p.Ile1515Leu)
c.4429A>C (p.Ile1477Leu)
c.3178A>C (p.Ile1060Leu)
n.333A>C
n.364A>C
n.3366A>C
c.4498A>C (p.Ile1500Leu)
c.4126A>C (p.Ile1376Leu)
c.4282A>C (p.Ile1428Leu)
c.4489A>C (p.Ile1497Leu)
c.3790A>C (p.Ile1264Leu)
c.4537A>C (p.Ile1513Leu)
 dbSNP
16g.3736668C>ACA493279150CREBBPc.4542G>T (p.Arg1514=)
c.4428G>T (p.Arg1476=)
c.3177G>T (p.Arg1059=)
n.332G>T
n.363G>T
n.3365G>T
c.4497G>T (p.Arg1499=)
c.4125G>T (p.Arg1375=)
c.4281G>T (p.Arg1427=)
c.4488G>T (p.Arg1496=)
c.3789G>T (p.Arg1263=)
c.4536G>T (p.Arg1512=)
 dbSNP gnomAD v4
16g.3736668C=CA2202936558CREBBPc.4542G= (p.Arg1514=)
c.4428G= (p.Arg1476=)
c.3177G= (p.Arg1059=)
n.332G=
n.363G=
n.3365G=
c.4497G= (p.Arg1499=)
c.4125G= (p.Arg1375=)
c.4281G= (p.Arg1427=)
c.4488G= (p.Arg1496=)
c.3789G= (p.Arg1263=)
c.4536G= (p.Arg1512=)
16g.3736668C>GCA276980031CREBBPc.4542G>C (p.Arg1514=)
c.4428G>C (p.Arg1476=)
c.3177G>C (p.Arg1059=)
n.332G>C
n.363G>C
n.3365G>C
c.4497G>C (p.Arg1499=)
c.4125G>C (p.Arg1375=)
c.4281G>C (p.Arg1427=)
c.4488G>C (p.Arg1496=)
c.3789G>C (p.Arg1263=)
c.4536G>C (p.Arg1512=)
 dbSNP gnomAD v2 gnomAD v4
16g.3736668C>TCA493279153CREBBPc.4542G>A (p.Arg1514=)
c.4428G>A (p.Arg1476=)
c.3177G>A (p.Arg1059=)
n.332G>A
n.363G>A
n.3365G>A
c.4497G>A (p.Arg1499=)
c.4125G>A (p.Arg1375=)
c.4281G>A (p.Arg1427=)
c.4488G>A (p.Arg1496=)
c.3789G>A (p.Arg1263=)
c.4536G>A (p.Arg1512=)
 dbSNP
16g.3736669C>ACA394563366CREBBPc.4541G>T (p.Arg1514Leu)
c.4427G>T (p.Arg1476Leu)
c.3176G>T (p.Arg1059Leu)
n.331G>T
n.362G>T
n.3364G>T
c.4496G>T (p.Arg1499Leu)
c.4124G>T (p.Arg1375Leu)
c.4280G>T (p.Arg1427Leu)
c.4487G>T (p.Arg1496Leu)
c.3788G>T (p.Arg1263Leu)
c.4535G>T (p.Arg1512Leu)
 dbSNP
16g.3736669C>GCA394563367CREBBPc.4541G>C (p.Arg1514Pro)
c.4427G>C (p.Arg1476Pro)
c.3176G>C (p.Arg1059Pro)
n.331G>C
n.362G>C
n.3364G>C
c.4496G>C (p.Arg1499Pro)
c.4124G>C (p.Arg1375Pro)
c.4280G>C (p.Arg1427Pro)
c.4487G>C (p.Arg1496Pro)
c.3788G>C (p.Arg1263Pro)
c.4535G>C (p.Arg1512Pro)
16g.3736669C>TCA394563369CREBBPc.4541G>A (p.Arg1514Gln)
c.4427G>A (p.Arg1476Gln)
c.3176G>A (p.Arg1059Gln)
n.331G>A
n.362G>A
n.3364G>A
c.4496G>A (p.Arg1499Gln)
c.4124G>A (p.Arg1375Gln)
c.4280G>A (p.Arg1427Gln)
c.4487G>A (p.Arg1496Gln)
c.3788G>A (p.Arg1263Gln)
c.4535G>A (p.Arg1512Gln)
 dbSNP
16g.3736670G>ACA394563371CREBBPc.4540C>T (p.Arg1514Trp)
c.4426C>T (p.Arg1476Trp)
c.3175C>T (p.Arg1059Trp)
n.330C>T
n.361C>T
n.3363C>T
c.4495C>T (p.Arg1499Trp)
c.4123C>T (p.Arg1375Trp)
c.4279C>T (p.Arg1427Trp)
c.4486C>T (p.Arg1496Trp)
c.3787C>T (p.Arg1263Trp)
c.4534C>T (p.Arg1512Trp)
 dbSNP gnomAD v4
16g.3736670G>CCA394563372CREBBPc.4540C>G (p.Arg1514Gly)
c.4426C>G (p.Arg1476Gly)
c.3175C>G (p.Arg1059Gly)
n.330C>G
n.361C>G
n.3363C>G
c.4495C>G (p.Arg1499Gly)
c.4123C>G (p.Arg1375Gly)
c.4279C>G (p.Arg1427Gly)
c.4486C>G (p.Arg1496Gly)
c.3787C>G (p.Arg1263Gly)
c.4534C>G (p.Arg1512Gly)
 dbSNP gnomAD v2 gnomAD v4
16g.3736670G=CA2202936560CREBBPc.4540C= (p.Arg1514=)
c.4426C= (p.Arg1476=)
c.3175C= (p.Arg1059=)
n.330C=
n.361C=
n.3363C=
c.4495C= (p.Arg1499=)
c.4123C= (p.Arg1375=)
c.4279C= (p.Arg1427=)
c.4486C= (p.Arg1496=)
c.3787C= (p.Arg1263=)
c.4534C= (p.Arg1512=)
16g.3736670G>TCA493279159CREBBPc.4540C>A (p.Arg1514=)
c.4426C>A (p.Arg1476=)
c.3175C>A (p.Arg1059=)
n.330C>A
n.361C>A
n.3363C>A
c.4495C>A (p.Arg1499=)
c.4123C>A (p.Arg1375=)
c.4279C>A (p.Arg1427=)
c.4486C>A (p.Arg1496=)
c.3787C>A (p.Arg1263=)
c.4534C>A (p.Arg1512=)
16g.3736671C>ACA394563375CREBBPc.4539G>T (p.Glu1513Asp)
c.4425G>T (p.Glu1475Asp)
c.3174G>T (p.Glu1058Asp)
n.329G>T
n.360G>T
n.3362G>T
c.4494G>T (p.Glu1498Asp)
c.4122G>T (p.Glu1374Asp)
c.4278G>T (p.Glu1426Asp)
c.4485G>T (p.Glu1495Asp)
c.3786G>T (p.Glu1262Asp)
c.4533G>T (p.Glu1511Asp)
 dbSNP
16g.3736671C=CA2202936563CREBBPc.4539G= (p.Glu1513=)
c.4425G= (p.Glu1475=)
c.3174G= (p.Glu1058=)
n.329G=
n.360G=
n.3362G=
c.4494G= (p.Glu1498=)
c.4122G= (p.Glu1374=)
c.4278G= (p.Glu1426=)
c.4485G= (p.Glu1495=)
c.3786G= (p.Glu1262=)
c.4533G= (p.Glu1511=)
16g.3736671C>GCA394563378CREBBPc.4539G>C (p.Glu1513Asp)
c.4425G>C (p.Glu1475Asp)
c.3174G>C (p.Glu1058Asp)
n.329G>C
n.360G>C
n.3362G>C
c.4494G>C (p.Glu1498Asp)
c.4122G>C (p.Glu1374Asp)
c.4278G>C (p.Glu1426Asp)
c.4485G>C (p.Glu1495Asp)
c.3786G>C (p.Glu1262Asp)
c.4533G>C (p.Glu1511Asp)
 dbSNP
16g.3736671C>TCA493279164CREBBPc.4539G>A (p.Glu1513=)
c.4425G>A (p.Glu1475=)
c.3174G>A (p.Glu1058=)
n.329G>A
n.360G>A
n.3362G>A
c.4494G>A (p.Glu1498=)
c.4122G>A (p.Glu1374=)
c.4278G>A (p.Glu1426=)
c.4485G>A (p.Glu1495=)
c.3786G>A (p.Glu1262=)
c.4533G>A (p.Glu1511=)
 dbSNP gnomAD v3 gnomAD v4
16g.3736672T>ACA394563380CREBBPc.4538A>T (p.Glu1513Val)
c.4424A>T (p.Glu1475Val)
c.3173A>T (p.Glu1058Val)
n.328A>T
n.359A>T
n.3361A>T
c.4493A>T (p.Glu1498Val)
c.4121A>T (p.Glu1374Val)
c.4277A>T (p.Glu1426Val)
c.4484A>T (p.Glu1495Val)
c.3785A>T (p.Glu1262Val)
c.4532A>T (p.Glu1511Val)
 dbSNP
16g.3736672T>CCA394563381CREBBPc.4538A>G (p.Glu1513Gly)
c.4424A>G (p.Glu1475Gly)
c.3173A>G (p.Glu1058Gly)
n.328A>G
n.359A>G
n.3361A>G
c.4493A>G (p.Glu1498Gly)
c.4121A>G (p.Glu1374Gly)
c.4277A>G (p.Glu1426Gly)
c.4484A>G (p.Glu1495Gly)
c.3785A>G (p.Glu1262Gly)
c.4532A>G (p.Glu1511Gly)
 dbSNP
16g.3736672T>GCA394563384CREBBPc.4538A>C (p.Glu1513Ala)
c.4424A>C (p.Glu1475Ala)
c.3173A>C (p.Glu1058Ala)
n.328A>C
n.359A>C
n.3361A>C
c.4493A>C (p.Glu1498Ala)
c.4121A>C (p.Glu1374Ala)
c.4277A>C (p.Glu1426Ala)
c.4484A>C (p.Glu1495Ala)
c.3785A>C (p.Glu1262Ala)
c.4532A>C (p.Glu1511Ala)
16g.3736673C>ACA394563388CREBBPc.4537G>T (p.Glu1513Ter)
c.4423G>T (p.Glu1475Ter)
c.3172G>T (p.Glu1058Ter)
n.327G>T
n.358G>T
n.3360G>T
c.4492G>T (p.Glu1498Ter)
c.4120G>T (p.Glu1374Ter)
c.4276G>T (p.Glu1426Ter)
c.4483G>T (p.Glu1495Ter)
c.3784G>T (p.Glu1262Ter)
c.4531G>T (p.Glu1511Ter)
 dbSNP
16g.3736673C>GCA394563390CREBBPc.4537G>C (p.Glu1513Gln)
c.4423G>C (p.Glu1475Gln)
c.3172G>C (p.Glu1058Gln)
n.327G>C
n.358G>C
n.3360G>C
c.4492G>C (p.Glu1498Gln)
c.4120G>C (p.Glu1374Gln)
c.4276G>C (p.Glu1426Gln)
c.4483G>C (p.Glu1495Gln)
c.3784G>C (p.Glu1262Gln)
c.4531G>C (p.Glu1511Gln)
 dbSNP
16g.3736673C>TCA394563392CREBBPc.4537G>A (p.Glu1513Lys)
c.4423G>A (p.Glu1475Lys)
c.3172G>A (p.Glu1058Lys)
n.327G>A
n.358G>A
n.3360G>A
c.4492G>A (p.Glu1498Lys)
c.4120G>A (p.Glu1374Lys)
c.4276G>A (p.Glu1426Lys)
c.4483G>A (p.Glu1495Lys)
c.3784G>A (p.Glu1262Lys)
c.4531G>A (p.Glu1511Lys)
 dbSNP
16g.3736674T>ACA493279172CREBBPc.4536A>T (p.Ala1512=)
c.4422A>T (p.Ala1474=)
c.3171A>T (p.Ala1057=)
n.326A>T
n.357A>T
n.3359A>T
c.4491A>T (p.Ala1497=)
c.4119A>T (p.Ala1373=)
c.4275A>T (p.Ala1425=)
c.4482A>T (p.Ala1494=)
c.3783A>T (p.Ala1261=)
c.4530A>T (p.Ala1510=)
 dbSNP
16g.3736674T>CCA493279174CREBBPc.4536A>G (p.Ala1512=)
c.4422A>G (p.Ala1474=)
c.3171A>G (p.Ala1057=)
n.326A>G
n.357A>G
n.3359A>G
c.4491A>G (p.Ala1497=)
c.4119A>G (p.Ala1373=)
c.4275A>G (p.Ala1425=)
c.4482A>G (p.Ala1494=)
c.3783A>G (p.Ala1261=)
c.4530A>G (p.Ala1510=)
 dbSNP
16g.3736674T>GCA493279176CREBBPc.4536A>C (p.Ala1512=)
c.4422A>C (p.Ala1474=)
c.3171A>C (p.Ala1057=)
n.326A>C
n.357A>C
n.3359A>C
c.4491A>C (p.Ala1497=)
c.4119A>C (p.Ala1373=)
c.4275A>C (p.Ala1425=)
c.4482A>C (p.Ala1494=)
c.3783A>C (p.Ala1261=)
c.4530A>C (p.Ala1510=)
16g.3736675G>ACA394563395CREBBPc.4535C>T (p.Ala1512Val)
c.4421C>T (p.Ala1474Val)
c.3170C>T (p.Ala1057Val)
n.325C>T
n.356C>T
n.3358C>T
c.4490C>T (p.Ala1497Val)
c.4118C>T (p.Ala1373Val)
c.4274C>T (p.Ala1425Val)
c.4481C>T (p.Ala1494Val)
c.3782C>T (p.Ala1261Val)
c.4529C>T (p.Ala1510Val)
 dbSNP
16g.3736675G>CCA394563399CREBBPc.4535C>G (p.Ala1512Gly)
c.4421C>G (p.Ala1474Gly)
c.3170C>G (p.Ala1057Gly)
n.325C>G
n.356C>G
n.3358C>G
c.4490C>G (p.Ala1497Gly)
c.4118C>G (p.Ala1373Gly)
c.4274C>G (p.Ala1425Gly)
c.4481C>G (p.Ala1494Gly)
c.3782C>G (p.Ala1261Gly)
c.4529C>G (p.Ala1510Gly)
 dbSNP
16g.3736675G>TCA394563397CREBBPc.4535C>A (p.Ala1512Glu)
c.4421C>A (p.Ala1474Glu)
c.3170C>A (p.Ala1057Glu)
n.325C>A
n.356C>A
n.3358C>A
c.4490C>A (p.Ala1497Glu)
c.4118C>A (p.Ala1373Glu)
c.4274C>A (p.Ala1425Glu)
c.4481C>A (p.Ala1494Glu)
c.3782C>A (p.Ala1261Glu)
c.4529C>A (p.Ala1510Glu)
 dbSNP
16g.3736676C>ACA394563402CREBBPc.4534G>T (p.Ala1512Ser)
c.4420G>T (p.Ala1474Ser)
c.3169G>T (p.Ala1057Ser)
n.324G>T
n.355G>T
n.3357G>T
c.4489G>T (p.Ala1497Ser)
c.4117G>T (p.Ala1373Ser)
c.4273G>T (p.Ala1425Ser)
c.4480G>T (p.Ala1494Ser)
c.3781G>T (p.Ala1261Ser)
c.4528G>T (p.Ala1510Ser)
16g.3736676C>GCA394563404CREBBPc.4534G>C (p.Ala1512Pro)
c.4420G>C (p.Ala1474Pro)
c.3169G>C (p.Ala1057Pro)
n.324G>C
n.355G>C
n.3357G>C
c.4489G>C (p.Ala1497Pro)
c.4117G>C (p.Ala1373Pro)
c.4273G>C (p.Ala1425Pro)
c.4480G>C (p.Ala1494Pro)
c.3781G>C (p.Ala1261Pro)
c.4528G>C (p.Ala1510Pro)
16g.3736676C>TCA394563406CREBBPc.4534G>A (p.Ala1512Thr)
c.4420G>A (p.Ala1474Thr)
c.3169G>A (p.Ala1057Thr)
n.324G>A
n.355G>A
n.3357G>A
c.4489G>A (p.Ala1497Thr)
c.4117G>A (p.Ala1373Thr)
c.4273G>A (p.Ala1425Thr)
c.4480G>A (p.Ala1494Thr)
c.3781G>A (p.Ala1261Thr)
c.4528G>A (p.Ala1510Thr)
16g.3736677A=CA2202936567CREBBPc.4533T= (p.Phe1511=)
c.4419T= (p.Phe1473=)
c.3168T= (p.Phe1056=)
n.323T=
n.354T=
n.3356T=
c.4488T= (p.Phe1496=)
c.4116T= (p.Phe1372=)
c.4272T= (p.Phe1424=)
c.4479T= (p.Phe1493=)
c.3780T= (p.Phe1260=)
c.4527T= (p.Phe1509=)
16g.3736677A>CCA394563408CREBBPc.4533T>G (p.Phe1511Leu)
c.4419T>G (p.Phe1473Leu)
c.3168T>G (p.Phe1056Leu)
n.323T>G
n.354T>G
n.3356T>G
c.4488T>G (p.Phe1496Leu)
c.4116T>G (p.Phe1372Leu)
c.4272T>G (p.Phe1424Leu)
c.4479T>G (p.Phe1493Leu)
c.3780T>G (p.Phe1260Leu)
c.4527T>G (p.Phe1509Leu)
16g.3736677A>GCA493279185CREBBPc.4533T>C (p.Phe1511=)
c.4419T>C (p.Phe1473=)
c.3168T>C (p.Phe1056=)
n.323T>C
n.354T>C
n.3356T>C
c.4488T>C (p.Phe1496=)
c.4116T>C (p.Phe1372=)
c.4272T>C (p.Phe1424=)
c.4479T>C (p.Phe1493=)
c.3780T>C (p.Phe1260=)
c.4527T>C (p.Phe1509=)
 dbSNP gnomAD v4
16g.3736677A>TCA394563410CREBBPc.4533T>A (p.Phe1511Leu)
c.4419T>A (p.Phe1473Leu)
c.3168T>A (p.Phe1056Leu)
n.323T>A
n.354T>A
n.3356T>A
c.4488T>A (p.Phe1496Leu)
c.4116T>A (p.Phe1372Leu)
c.4272T>A (p.Phe1424Leu)
c.4479T>A (p.Phe1493Leu)
c.3780T>A (p.Phe1260Leu)
c.4527T>A (p.Phe1509Leu)
 dbSNP
16g.3736678A>CCA394563413CREBBPc.4532T>G (p.Phe1511Cys)
c.4418T>G (p.Phe1473Cys)
c.3167T>G (p.Phe1056Cys)
n.322T>G
n.353T>G
n.3355T>G
c.4487T>G (p.Phe1496Cys)
c.4115T>G (p.Phe1372Cys)
c.4271T>G (p.Phe1424Cys)
c.4478T>G (p.Phe1493Cys)
c.3779T>G (p.Phe1260Cys)
c.4526T>G (p.Phe1509Cys)
 dbSNP
16g.3736678A>GCA394563416CREBBPc.4532T>C (p.Phe1511Ser)
c.4418T>C (p.Phe1473Ser)
c.3167T>C (p.Phe1056Ser)
n.322T>C
n.353T>C
n.3355T>C
c.4487T>C (p.Phe1496Ser)
c.4115T>C (p.Phe1372Ser)
c.4271T>C (p.Phe1424Ser)
c.4478T>C (p.Phe1493Ser)
c.3779T>C (p.Phe1260Ser)
c.4526T>C (p.Phe1509Ser)
 dbSNP gnomAD v4
16g.3736678A>TCA394563417CREBBPc.4532T>A (p.Phe1511Tyr)
c.4418T>A (p.Phe1473Tyr)
c.3167T>A (p.Phe1056Tyr)
n.322T>A
n.353T>A
n.3355T>A
c.4487T>A (p.Phe1496Tyr)
c.4115T>A (p.Phe1372Tyr)
c.4271T>A (p.Phe1424Tyr)
c.4478T>A (p.Phe1493Tyr)
c.3779T>A (p.Phe1260Tyr)
c.4526T>A (p.Phe1509Tyr)
 dbSNP
16g.3736679A>CCA394563421CREBBPc.4531T>G (p.Phe1511Val)
c.4417T>G (p.Phe1473Val)
c.3166T>G (p.Phe1056Val)
n.321T>G
n.352T>G
n.3354T>G
c.4486T>G (p.Phe1496Val)
c.4114T>G (p.Phe1372Val)
c.4270T>G (p.Phe1424Val)
c.4477T>G (p.Phe1493Val)
c.3778T>G (p.Phe1260Val)
c.4525T>G (p.Phe1509Val)
 dbSNP
16g.3736679A>GCA394563424CREBBPc.4531T>C (p.Phe1511Leu)
c.4417T>C (p.Phe1473Leu)
c.3166T>C (p.Phe1056Leu)
n.321T>C
n.352T>C
n.3354T>C
c.4486T>C (p.Phe1496Leu)
c.4114T>C (p.Phe1372Leu)
c.4270T>C (p.Phe1424Leu)
c.4477T>C (p.Phe1493Leu)
c.3778T>C (p.Phe1260Leu)
c.4525T>C (p.Phe1509Leu)
 dbSNP
16g.3736679A>TCA394563426CREBBPc.4531T>A (p.Phe1511Ile)
c.4417T>A (p.Phe1473Ile)
c.3166T>A (p.Phe1056Ile)
n.321T>A
n.352T>A
n.3354T>A
c.4486T>A (p.Phe1496Ile)
c.4114T>A (p.Phe1372Ile)
c.4270T>A (p.Phe1424Ile)
c.4477T>A (p.Phe1493Ile)
c.3778T>A (p.Phe1260Ile)
c.4525T>A (p.Phe1509Ile)
 dbSNP
16g.3736680C>ACA7869512CREBBPc.4530G>T (p.Ala1510=)
c.4416G>T (p.Ala1472=)
c.3165G>T (p.Ala1055=)
n.320G>T
n.351G>T
n.3353G>T
c.4485G>T (p.Ala1495=)
c.4113G>T (p.Ala1371=)
c.4269G>T (p.Ala1423=)
c.4476G>T (p.Ala1492=)
c.3777G>T (p.Ala1259=)
c.4524G>T (p.Ala1508=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3736680C=CA2202936571CREBBPc.4530G= (p.Ala1510=)
c.4416G= (p.Ala1472=)
c.3165G= (p.Ala1055=)
n.320G=
n.351G=
n.3353G=
c.4485G= (p.Ala1495=)
c.4113G= (p.Ala1371=)
c.4269G= (p.Ala1423=)
c.4476G= (p.Ala1492=)
c.3777G= (p.Ala1259=)
c.4524G= (p.Ala1508=)
16g.3736680C>GCA493279194CREBBPc.4530G>C (p.Ala1510=)
c.4416G>C (p.Ala1472=)
c.3165G>C (p.Ala1055=)
n.320G>C
n.351G>C
n.3353G>C
c.4485G>C (p.Ala1495=)
c.4113G>C (p.Ala1371=)
c.4269G>C (p.Ala1423=)
c.4476G>C (p.Ala1492=)
c.3777G>C (p.Ala1259=)
c.4524G>C (p.Ala1508=)
 dbSNP
16g.3736680C>TCA7869511CREBBPc.4530G>A (p.Ala1510=)
c.4416G>A (p.Ala1472=)
c.3165G>A (p.Ala1055=)
n.320G>A
n.351G>A
n.3353G>A
c.4485G>A (p.Ala1495=)
c.4113G>A (p.Ala1371=)
c.4269G>A (p.Ala1423=)
c.4476G>A (p.Ala1492=)
c.3777G>A (p.Ala1259=)
c.4524G>A (p.Ala1508=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3736681G>ACA7869513CREBBPc.4529C>T (p.Ala1510Val)
c.4415C>T (p.Ala1472Val)
c.3164C>T (p.Ala1055Val)
n.319C>T
n.350C>T
n.3352C>T
c.4484C>T (p.Ala1495Val)
c.4112C>T (p.Ala1371Val)
c.4268C>T (p.Ala1423Val)
c.4475C>T (p.Ala1492Val)
c.3776C>T (p.Ala1259Val)
c.4523C>T (p.Ala1508Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.3736681G>CCA394563434CREBBPc.4529C>G (p.Ala1510Gly)
c.4415C>G (p.Ala1472Gly)
c.3164C>G (p.Ala1055Gly)
n.319C>G
n.350C>G
n.3352C>G
c.4484C>G (p.Ala1495Gly)
c.4112C>G (p.Ala1371Gly)
c.4268C>G (p.Ala1423Gly)
c.4475C>G (p.Ala1492Gly)
c.3776C>G (p.Ala1259Gly)
c.4523C>G (p.Ala1508Gly)
 dbSNP gnomAD v4
16g.3736681G=CA2202936573CREBBPc.4529C= (p.Ala1510=)
c.4415C= (p.Ala1472=)
c.3164C= (p.Ala1055=)
n.319C=
n.350C=
n.3352C=
c.4484C= (p.Ala1495=)
c.4112C= (p.Ala1371=)
c.4268C= (p.Ala1423=)
c.4475C= (p.Ala1492=)
c.3776C= (p.Ala1259=)
c.4523C= (p.Ala1508=)
16g.3736681G>TCA394563436CREBBPc.4529C>A (p.Ala1510Glu)
c.4415C>A (p.Ala1472Glu)
c.3164C>A (p.Ala1055Glu)
n.319C>A
n.350C>A
n.3352C>A
c.4484C>A (p.Ala1495Glu)
c.4112C>A (p.Ala1371Glu)
c.4268C>A (p.Ala1423Glu)
c.4475C>A (p.Ala1492Glu)
c.3776C>A (p.Ala1259Glu)
c.4523C>A (p.Ala1508Glu)
 dbSNP
16g.3736682C>ACA394563437CREBBPc.4528G>T (p.Ala1510Ser)
c.4414G>T (p.Ala1472Ser)
c.3163G>T (p.Ala1055Ser)
n.318G>T
n.349G>T
n.3351G>T
c.4483G>T (p.Ala1495Ser)
c.4111G>T (p.Ala1371Ser)
c.4267G>T (p.Ala1423Ser)
c.4474G>T (p.Ala1492Ser)
c.3775G>T (p.Ala1259Ser)
c.4522G>T (p.Ala1508Ser)
 dbSNP COSMIC
16g.3736682C>GCA394563439CREBBPc.4528G>C (p.Ala1510Pro)
c.4414G>C (p.Ala1472Pro)
c.3163G>C (p.Ala1055Pro)
n.318G>C
n.349G>C
n.3351G>C
c.4483G>C (p.Ala1495Pro)
c.4111G>C (p.Ala1371Pro)
c.4267G>C (p.Ala1423Pro)
c.4474G>C (p.Ala1492Pro)
c.3775G>C (p.Ala1259Pro)
c.4522G>C (p.Ala1508Pro)
 dbSNP
16g.3736682C>TCA394563440CREBBPc.4528G>A (p.Ala1510Thr)
c.4414G>A (p.Ala1472Thr)
c.3163G>A (p.Ala1055Thr)
n.318G>A
n.349G>A
n.3351G>A
c.4483G>A (p.Ala1495Thr)
c.4111G>A (p.Ala1371Thr)
c.4267G>A (p.Ala1423Thr)
c.4474G>A (p.Ala1492Thr)
c.3775G>A (p.Ala1259Thr)
c.4522G>A (p.Ala1508Thr)
 dbSNP
16g.3736683C>ACA394563442CREBBPc.4527G>T (p.Lys1509Asn)
c.4413G>T (p.Lys1471Asn)
c.3162G>T (p.Lys1054Asn)
n.317G>T
n.348G>T
n.3350G>T
c.4482G>T (p.Lys1494Asn)
c.4110G>T (p.Lys1370Asn)
c.4266G>T (p.Lys1422Asn)
c.4473G>T (p.Lys1491Asn)
c.3774G>T (p.Lys1258Asn)
c.4521G>T (p.Lys1507Asn)
 dbSNP
16g.3736683C=CA2202936576CREBBPc.4527G= (p.Lys1509=)
c.4413G= (p.Lys1471=)
c.3162G= (p.Lys1054=)
n.317G=
n.348G=
n.3350G=
c.4482G= (p.Lys1494=)
c.4110G= (p.Lys1370=)
c.4266G= (p.Lys1422=)
c.4473G= (p.Lys1491=)
c.3774G= (p.Lys1258=)
c.4521G= (p.Lys1507=)
16g.3736683C>GCA394563443CREBBPc.4527G>C (p.Lys1509Asn)
c.4413G>C (p.Lys1471Asn)
c.3162G>C (p.Lys1054Asn)
n.317G>C
n.348G>C
n.3350G>C
c.4482G>C (p.Lys1494Asn)
c.4110G>C (p.Lys1370Asn)
c.4266G>C (p.Lys1422Asn)
c.4473G>C (p.Lys1491Asn)
c.3774G>C (p.Lys1258Asn)
c.4521G>C (p.Lys1507Asn)
 dbSNP
16g.3736683C>TCA493279206CREBBPc.4527G>A (p.Lys1509=)
c.4413G>A (p.Lys1471=)
c.3162G>A (p.Lys1054=)
n.317G>A
n.348G>A
n.3350G>A
c.4482G>A (p.Lys1494=)
c.4110G>A (p.Lys1370=)
c.4266G>A (p.Lys1422=)
c.4473G>A (p.Lys1491=)
c.3774G>A (p.Lys1258=)
c.4521G>A (p.Lys1507=)
 dbSNP
16g.3736684T>ACA394563446CREBBPc.4526A>T (p.Lys1509Met)
c.4412A>T (p.Lys1471Met)
c.3161A>T (p.Lys1054Met)
n.316A>T
n.347A>T
n.3349A>T
c.4481A>T (p.Lys1494Met)
c.4109A>T (p.Lys1370Met)
c.4265A>T (p.Lys1422Met)
c.4472A>T (p.Lys1491Met)
c.3773A>T (p.Lys1258Met)
c.4520A>T (p.Lys1507Met)
 dbSNP
16g.3736684T>CCA394563449CREBBPc.4526A>G (p.Lys1509Arg)
c.4412A>G (p.Lys1471Arg)
c.3161A>G (p.Lys1054Arg)
n.316A>G
n.347A>G
n.3349A>G
c.4481A>G (p.Lys1494Arg)
c.4109A>G (p.Lys1370Arg)
c.4265A>G (p.Lys1422Arg)
c.4472A>G (p.Lys1491Arg)
c.3773A>G (p.Lys1258Arg)
c.4520A>G (p.Lys1507Arg)
 dbSNP
16g.3736684T>GCA394563451CREBBPc.4526A>C (p.Lys1509Thr)
c.4412A>C (p.Lys1471Thr)
c.3161A>C (p.Lys1054Thr)
n.316A>C
n.347A>C
n.3349A>C
c.4481A>C (p.Lys1494Thr)
c.4109A>C (p.Lys1370Thr)
c.4265A>C (p.Lys1422Thr)
c.4472A>C (p.Lys1491Thr)
c.3773A>C (p.Lys1258Thr)
c.4520A>C (p.Lys1507Thr)
16g.3736685T>ACA394563453CREBBPc.4525A>T (p.Lys1509Ter)
c.4411A>T (p.Lys1471Ter)
c.3160A>T (p.Lys1054Ter)
n.315A>T
n.346A>T
n.3348A>T
c.4480A>T (p.Lys1494Ter)
c.4108A>T (p.Lys1370Ter)
c.4264A>T (p.Lys1422Ter)
c.4471A>T (p.Lys1491Ter)
c.3772A>T (p.Lys1258Ter)
c.4519A>T (p.Lys1507Ter)
 dbSNP
16g.3736685T>CCA394563455CREBBPc.4525A>G (p.Lys1509Glu)
c.4411A>G (p.Lys1471Glu)
c.3160A>G (p.Lys1054Glu)
n.315A>G
n.346A>G
n.3348A>G
c.4480A>G (p.Lys1494Glu)
c.4108A>G (p.Lys1370Glu)
c.4264A>G (p.Lys1422Glu)
c.4471A>G (p.Lys1491Glu)
c.3772A>G (p.Lys1258Glu)
c.4519A>G (p.Lys1507Glu)
16g.3736685T>GCA394563458CREBBPc.4525A>C (p.Lys1509Gln)
c.4411A>C (p.Lys1471Gln)
c.3160A>C (p.Lys1054Gln)
n.315A>C
n.346A>C
n.3348A>C
c.4480A>C (p.Lys1494Gln)
c.4108A>C (p.Lys1370Gln)
c.4264A>C (p.Lys1422Gln)
c.4471A>C (p.Lys1491Gln)
c.3772A>C (p.Lys1258Gln)
c.4519A>C (p.Lys1507Gln)
16g.3736686G>ACA493279215CREBBPc.4524C>T (p.Asp1508=)
c.4410C>T (p.Asp1470=)
c.3159C>T (p.Asp1053=)
n.314C>T
n.345C>T
n.3347C>T
c.4479C>T (p.Asp1493=)
c.4107C>T (p.Asp1369=)
c.4263C>T (p.Asp1421=)
c.4470C>T (p.Asp1490=)
c.3771C>T (p.Asp1257=)
c.4518C>T (p.Asp1506=)
 dbSNP gnomAD v2
16g.3736686G>CCA394563463CREBBPc.4524C>G (p.Asp1508Glu)
c.4410C>G (p.Asp1470Glu)
c.3159C>G (p.Asp1053Glu)
n.314C>G
n.345C>G
n.3347C>G
c.4479C>G (p.Asp1493Glu)
c.4107C>G (p.Asp1369Glu)
c.4263C>G (p.Asp1421Glu)
c.4470C>G (p.Asp1490Glu)
c.3771C>G (p.Asp1257Glu)
c.4518C>G (p.Asp1506Glu)
 dbSNP
16g.3736686G=CA2202936579CREBBPc.4524C= (p.Asp1508=)
c.4410C= (p.Asp1470=)
c.3159C= (p.Asp1053=)
n.314C=
n.345C=
n.3347C=
c.4479C= (p.Asp1493=)
c.4107C= (p.Asp1369=)
c.4263C= (p.Asp1421=)
c.4470C= (p.Asp1490=)
c.3771C= (p.Asp1257=)
c.4518C= (p.Asp1506=)
16g.3736686G>TCA394563461CREBBPc.4524C>A (p.Asp1508Glu)
c.4410C>A (p.Asp1470Glu)
c.3159C>A (p.Asp1053Glu)
n.314C>A
n.345C>A
n.3347C>A
c.4479C>A (p.Asp1493Glu)
c.4107C>A (p.Asp1369Glu)
c.4263C>A (p.Asp1421Glu)
c.4470C>A (p.Asp1490Glu)
c.3771C>A (p.Asp1257Glu)
c.4518C>A (p.Asp1506Glu)
 gnomAD v4
16g.3736687T>ACA394563466CREBBPc.4523A>T (p.Asp1508Val)
c.4409A>T (p.Asp1470Val)
c.3158A>T (p.Asp1053Val)
n.313A>T
n.344A>T
n.3346A>T
c.4478A>T (p.Asp1493Val)
c.4106A>T (p.Asp1369Val)
c.4262A>T (p.Asp1421Val)
c.4469A>T (p.Asp1490Val)
c.3770A>T (p.Asp1257Val)
c.4517A>T (p.Asp1506Val)
 dbSNP
16g.3736687T>CCA394563468CREBBPc.4523A>G (p.Asp1508Gly)
c.4409A>G (p.Asp1470Gly)
c.3158A>G (p.Asp1053Gly)
n.313A>G
n.344A>G
n.3346A>G
c.4478A>G (p.Asp1493Gly)
c.4106A>G (p.Asp1369Gly)
c.4262A>G (p.Asp1421Gly)
c.4469A>G (p.Asp1490Gly)
c.3770A>G (p.Asp1257Gly)
c.4517A>G (p.Asp1506Gly)
16g.3736687T>GCA394563470CREBBPc.4523A>C (p.Asp1508Ala)
c.4409A>C (p.Asp1470Ala)
c.3158A>C (p.Asp1053Ala)
n.313A>C
n.344A>C
n.3346A>C
c.4478A>C (p.Asp1493Ala)
c.4106A>C (p.Asp1369Ala)
c.4262A>C (p.Asp1421Ala)
c.4469A>C (p.Asp1490Ala)
c.3770A>C (p.Asp1257Ala)
c.4517A>C (p.Asp1506Ala)
 dbSNP
16g.3736688C>ACA394563471CREBBPc.4522G>T (p.Asp1508Tyr)
c.4408G>T (p.Asp1470Tyr)
c.3157G>T (p.Asp1053Tyr)
n.312G>T
n.343G>T
n.3345G>T
c.4477G>T (p.Asp1493Tyr)
c.4105G>T (p.Asp1369Tyr)
c.4261G>T (p.Asp1421Tyr)
c.4468G>T (p.Asp1490Tyr)
c.3769G>T (p.Asp1257Tyr)
c.4516G>T (p.Asp1506Tyr)
 dbSNP
16g.3736688C>GCA394563472CREBBPc.4522G>C (p.Asp1508His)
c.4408G>C (p.Asp1470His)
c.3157G>C (p.Asp1053His)
n.312G>C
n.343G>C
n.3345G>C
c.4477G>C (p.Asp1493His)
c.4105G>C (p.Asp1369His)
c.4261G>C (p.Asp1421His)
c.4468G>C (p.Asp1490His)
c.3769G>C (p.Asp1257His)
c.4516G>C (p.Asp1506His)
 dbSNP
16g.3736688C>TCA394563474CREBBPc.4522G>A (p.Asp1508Asn)
c.4408G>A (p.Asp1470Asn)
c.3157G>A (p.Asp1053Asn)
n.312G>A
n.343G>A
n.3345G>A
c.4477G>A (p.Asp1493Asn)
c.4105G>A (p.Asp1369Asn)
c.4261G>A (p.Asp1421Asn)
c.4468G>A (p.Asp1490Asn)
c.3769G>A (p.Asp1257Asn)
c.4516G>A (p.Asp1506Asn)
 dbSNP
16g.3736689C>ACA493279222CREBBPc.4521G>T (p.Leu1507=)
c.4407G>T (p.Leu1469=)
c.3156G>T (p.Leu1052=)
n.311G>T
n.342G>T
n.3344G>T
c.4476G>T (p.Leu1492=)
c.4104G>T (p.Leu1368=)
c.4260G>T (p.Leu1420=)
c.4467G>T (p.Leu1489=)
c.3768G>T (p.Leu1256=)
c.4515G>T (p.Leu1505=)
 dbSNP
16g.3736689C=CA2202936580CREBBPc.4521G= (p.Leu1507=)
c.4407G= (p.Leu1469=)
c.3156G= (p.Leu1052=)
n.311G=
n.342G=
n.3344G=
c.4476G= (p.Leu1492=)
c.4104G= (p.Leu1368=)
c.4260G= (p.Leu1420=)
c.4467G= (p.Leu1489=)
c.3768G= (p.Leu1256=)
c.4515G= (p.Leu1505=)
16g.3736689C>GCA493279223CREBBPc.4521G>C (p.Leu1507=)
c.4407G>C (p.Leu1469=)
c.3156G>C (p.Leu1052=)
n.311G>C
n.342G>C
n.3344G>C
c.4476G>C (p.Leu1492=)
c.4104G>C (p.Leu1368=)
c.4260G>C (p.Leu1420=)
c.4467G>C (p.Leu1489=)
c.3768G>C (p.Leu1256=)
c.4515G>C (p.Leu1505=)
16g.3736689C>TCA493279225CREBBPc.4521G>A (p.Leu1507=)
c.4407G>A (p.Leu1469=)
c.3156G>A (p.Leu1052=)
n.311G>A
n.342G>A
n.3344G>A
c.4476G>A (p.Leu1492=)
c.4104G>A (p.Leu1368=)
c.4260G>A (p.Leu1420=)
c.4467G>A (p.Leu1489=)
c.3768G>A (p.Leu1256=)
c.4515G>A (p.Leu1505=)
 dbSNP gnomAD v2 gnomAD v4
16g.3736690A=CA2202936586CREBBPc.4520T= (p.Leu1507=)
c.4406T= (p.Leu1469=)
c.3155T= (p.Leu1052=)
n.310T=
n.341T=
n.3343T=
c.4475T= (p.Leu1492=)
c.4103T= (p.Leu1368=)
c.4259T= (p.Leu1420=)
c.4466T= (p.Leu1489=)
c.3767T= (p.Leu1256=)
c.4514T= (p.Leu1505=)
16g.3736690A>CCA394563477CREBBPc.4520T>G (p.Leu1507Arg)
c.4406T>G (p.Leu1469Arg)
c.3155T>G (p.Leu1052Arg)
n.310T>G
n.341T>G
n.3343T>G
c.4475T>G (p.Leu1492Arg)
c.4103T>G (p.Leu1368Arg)
c.4259T>G (p.Leu1420Arg)
c.4466T>G (p.Leu1489Arg)
c.3767T>G (p.Leu1256Arg)
c.4514T>G (p.Leu1505Arg)
16g.3736690A>GCA16603336CREBBPc.4520T>C (p.Leu1507Pro)
c.4406T>C (p.Leu1469Pro)
c.3155T>C (p.Leu1052Pro)
n.310T>C
n.341T>C
n.3343T>C
c.4475T>C (p.Leu1492Pro)
c.4103T>C (p.Leu1368Pro)
c.4259T>C (p.Leu1420Pro)
c.4466T>C (p.Leu1489Pro)
c.3767T>C (p.Leu1256Pro)
c.4514T>C (p.Leu1505Pro)
 ClinVar dbSNP COSMIC
16g.3736690A>TCA394563476CREBBPc.4520T>A (p.Leu1507Gln)
c.4406T>A (p.Leu1469Gln)
c.3155T>A (p.Leu1052Gln)
n.310T>A
n.341T>A
n.3343T>A
c.4475T>A (p.Leu1492Gln)
c.4103T>A (p.Leu1368Gln)
c.4259T>A (p.Leu1420Gln)
c.4466T>A (p.Leu1489Gln)
c.3767T>A (p.Leu1256Gln)
c.4514T>A (p.Leu1505Gln)
 dbSNP
16g.3736691G>ACA493279231CREBBPc.4519C>T (p.Leu1507=)
c.4405C>T (p.Leu1469=)
c.3154C>T (p.Leu1052=)
n.309C>T
n.340C>T
n.3342C>T
c.4474C>T (p.Leu1492=)
c.4102C>T (p.Leu1368=)
c.4258C>T (p.Leu1420=)
c.4465C>T (p.Leu1489=)
c.3766C>T (p.Leu1256=)
c.4513C>T (p.Leu1505=)
 dbSNP
16g.3736691G>CCA394563479CREBBPc.4519C>G (p.Leu1507Val)
c.4405C>G (p.Leu1469Val)
c.3154C>G (p.Leu1052Val)
n.309C>G
n.340C>G
n.3342C>G
c.4474C>G (p.Leu1492Val)
c.4102C>G (p.Leu1368Val)
c.4258C>G (p.Leu1420Val)
c.4465C>G (p.Leu1489Val)
c.3766C>G (p.Leu1256Val)
c.4513C>G (p.Leu1505Val)
 dbSNP gnomAD v4
16g.3736691G>TCA394563482CREBBPc.4519C>A (p.Leu1507Met)
c.4405C>A (p.Leu1469Met)
c.3154C>A (p.Leu1052Met)
n.309C>A
n.340C>A
n.3342C>A
c.4474C>A (p.Leu1492Met)
c.4102C>A (p.Leu1368Met)
c.4258C>A (p.Leu1420Met)
c.4465C>A (p.Leu1489Met)
c.3766C>A (p.Leu1256Met)
c.4513C>A (p.Leu1505Met)
 dbSNP
16g.3736692C>ACA394563485CREBBPc.4518G>T (p.Met1506Ile)
c.4404G>T (p.Met1468Ile)
c.3153G>T (p.Met1051Ile)
n.308G>T
n.339G>T
n.3341G>T
c.4473G>T (p.Met1491Ile)
c.4101G>T (p.Met1367Ile)
c.4257G>T (p.Met1419Ile)
c.4464G>T (p.Met1488Ile)
c.3765G>T (p.Met1255Ile)
c.4512G>T (p.Met1504Ile)
 dbSNP gnomAD v4
16g.3736692C=CA2202936592CREBBPc.4518G= (p.Met1506=)
c.4404G= (p.Met1468=)
c.3153G= (p.Met1051=)
n.308G=
n.339G=
n.3341G=
c.4473G= (p.Met1491=)
c.4101G= (p.Met1367=)
c.4257G= (p.Met1419=)
c.4464G= (p.Met1488=)
c.3765G= (p.Met1255=)
c.4512G= (p.Met1504=)
16g.3736692C>GCA394563486CREBBPc.4518G>C (p.Met1506Ile)
c.4404G>C (p.Met1468Ile)
c.3153G>C (p.Met1051Ile)
n.308G>C
n.339G>C
n.3341G>C
c.4473G>C (p.Met1491Ile)
c.4101G>C (p.Met1367Ile)
c.4257G>C (p.Met1419Ile)
c.4464G>C (p.Met1488Ile)
c.3765G>C (p.Met1255Ile)
c.4512G>C (p.Met1504Ile)
 dbSNP gnomAD v3 gnomAD v4
16g.3736692C>TCA394563487CREBBPc.4518G>A (p.Met1506Ile)
c.4404G>A (p.Met1468Ile)
c.3153G>A (p.Met1051Ile)
n.308G>A
n.339G>A
n.3341G>A
c.4473G>A (p.Met1491Ile)
c.4101G>A (p.Met1367Ile)
c.4257G>A (p.Met1419Ile)
c.4464G>A (p.Met1488Ile)
c.3765G>A (p.Met1255Ile)
c.4512G>A (p.Met1504Ile)
 dbSNP
16g.3736693A>CCA394563490CREBBPc.4517T>G (p.Met1506Arg)
c.4403T>G (p.Met1468Arg)
c.3152T>G (p.Met1051Arg)
n.307T>G
n.338T>G
n.3340T>G
c.4472T>G (p.Met1491Arg)
c.4100T>G (p.Met1367Arg)
c.4256T>G (p.Met1419Arg)
c.4463T>G (p.Met1488Arg)
c.3764T>G (p.Met1255Arg)
c.4511T>G (p.Met1504Arg)
16g.3736693A>GCA394563493CREBBPc.4517T>C (p.Met1506Thr)
c.4403T>C (p.Met1468Thr)
c.3152T>C (p.Met1051Thr)
n.307T>C
n.338T>C
n.3340T>C
c.4472T>C (p.Met1491Thr)
c.4100T>C (p.Met1367Thr)
c.4256T>C (p.Met1419Thr)
c.4463T>C (p.Met1488Thr)
c.3764T>C (p.Met1255Thr)
c.4511T>C (p.Met1504Thr)
16g.3736693A>TCA394563492CREBBPc.4517T>A (p.Met1506Lys)
c.4403T>A (p.Met1468Lys)
c.3152T>A (p.Met1051Lys)
n.307T>A
n.338T>A
n.3340T>A
c.4472T>A (p.Met1491Lys)
c.4100T>A (p.Met1367Lys)
c.4256T>A (p.Met1419Lys)
c.4463T>A (p.Met1488Lys)
c.3764T>A (p.Met1255Lys)
c.4511T>A (p.Met1504Lys)
 dbSNP
16g.3736694T>ACA394563495CREBBPc.4516A>T (p.Met1506Leu)
c.4402A>T (p.Met1468Leu)
c.3151A>T (p.Met1051Leu)
n.306A>T
n.337A>T
n.3339A>T
c.4471A>T (p.Met1491Leu)
c.4099A>T (p.Met1367Leu)
c.4255A>T (p.Met1419Leu)
c.4462A>T (p.Met1488Leu)
c.3763A>T (p.Met1255Leu)
c.4510A>T (p.Met1504Leu)
 dbSNP
16g.3736694T>CCA394563498CREBBPc.4516A>G (p.Met1506Val)
c.4402A>G (p.Met1468Val)
c.3151A>G (p.Met1051Val)
n.306A>G
n.337A>G
n.3339A>G
c.4471A>G (p.Met1491Val)
c.4099A>G (p.Met1367Val)
c.4255A>G (p.Met1419Val)
c.4462A>G (p.Met1488Val)
c.3763A>G (p.Met1255Val)
c.4510A>G (p.Met1504Val)
 gnomAD v4
16g.3736694T>GCA394563501CREBBPc.4516A>C (p.Met1506Leu)
c.4402A>C (p.Met1468Leu)
c.3151A>C (p.Met1051Leu)
n.306A>C
n.337A>C
n.3339A>C
c.4471A>C (p.Met1491Leu)
c.4099A>C (p.Met1367Leu)
c.4255A>C (p.Met1419Leu)
c.4462A>C (p.Met1488Leu)
c.3763A>C (p.Met1255Leu)
c.4510A>C (p.Met1504Leu)
 dbSNP
16g.3736695C>ACA394563504CREBBPc.4515G>T (p.Lys1505Asn)
c.4401G>T (p.Lys1467Asn)
c.3150G>T (p.Lys1050Asn)
n.305G>T
n.336G>T
n.3338G>T
c.4470G>T (p.Lys1490Asn)
c.4098G>T (p.Lys1366Asn)
c.4254G>T (p.Lys1418Asn)
c.4461G>T (p.Lys1487Asn)
c.3762G>T (p.Lys1254Asn)
c.4509G>T (p.Lys1503Asn)
16g.3736695C>GCA394563506CREBBPc.4515G>C (p.Lys1505Asn)
c.4401G>C (p.Lys1467Asn)
c.3150G>C (p.Lys1050Asn)
n.305G>C
n.336G>C
n.3338G>C
c.4470G>C (p.Lys1490Asn)
c.4098G>C (p.Lys1366Asn)
c.4254G>C (p.Lys1418Asn)
c.4461G>C (p.Lys1487Asn)
c.3762G>C (p.Lys1254Asn)
c.4509G>C (p.Lys1503Asn)
16g.3736695C>TCA493279245CREBBPc.4515G>A (p.Lys1505=)
c.4401G>A (p.Lys1467=)
c.3150G>A (p.Lys1050=)
n.305G>A
n.336G>A
n.3338G>A
c.4470G>A (p.Lys1490=)
c.4098G>A (p.Lys1366=)
c.4254G>A (p.Lys1418=)
c.4461G>A (p.Lys1487=)
c.3762G>A (p.Lys1254=)
c.4509G>A (p.Lys1503=)
16g.3736696T>ACA394563510CREBBPc.4514A>T (p.Lys1505Met)
c.4400A>T (p.Lys1467Met)
c.3149A>T (p.Lys1050Met)
n.304A>T
n.335A>T
n.3337A>T
c.4469A>T (p.Lys1490Met)
c.4097A>T (p.Lys1366Met)
c.4253A>T (p.Lys1418Met)
c.4460A>T (p.Lys1487Met)
c.3761A>T (p.Lys1254Met)
c.4508A>T (p.Lys1503Met)
 dbSNP
16g.3736696T>CCA394563511CREBBPc.4514A>G (p.Lys1505Arg)
c.4400A>G (p.Lys1467Arg)
c.3149A>G (p.Lys1050Arg)
n.304A>G
n.335A>G
n.3337A>G
c.4469A>G (p.Lys1490Arg)
c.4097A>G (p.Lys1366Arg)
c.4253A>G (p.Lys1418Arg)
c.4460A>G (p.Lys1487Arg)
c.3761A>G (p.Lys1254Arg)
c.4508A>G (p.Lys1503Arg)
 dbSNP
16g.3736696T>GCA394563514CREBBPc.4514A>C (p.Lys1505Thr)
c.4400A>C (p.Lys1467Thr)
c.3149A>C (p.Lys1050Thr)
n.304A>C
n.335A>C
n.3337A>C
c.4469A>C (p.Lys1490Thr)
c.4097A>C (p.Lys1366Thr)
c.4253A>C (p.Lys1418Thr)
c.4460A>C (p.Lys1487Thr)
c.3761A>C (p.Lys1254Thr)
c.4508A>C (p.Lys1503Thr)
16g.3736697T>ACA394563517CREBBPc.4513A>T (p.Lys1505Ter)
c.4399A>T (p.Lys1467Ter)
c.3148A>T (p.Lys1050Ter)
n.303A>T
n.334A>T
n.3336A>T
c.4468A>T (p.Lys1490Ter)
c.4096A>T (p.Lys1366Ter)
c.4252A>T (p.Lys1418Ter)
c.4459A>T (p.Lys1487Ter)
c.3760A>T (p.Lys1254Ter)
c.4507A>T (p.Lys1503Ter)
 dbSNP
16g.3736697T>CCA394563519CREBBPc.4513A>G (p.Lys1505Glu)
c.4399A>G (p.Lys1467Glu)
c.3148A>G (p.Lys1050Glu)
n.303A>G
n.334A>G
n.3336A>G
c.4468A>G (p.Lys1490Glu)
c.4096A>G (p.Lys1366Glu)
c.4252A>G (p.Lys1418Glu)
c.4459A>G (p.Lys1487Glu)
c.3760A>G (p.Lys1254Glu)
c.4507A>G (p.Lys1503Glu)
16g.3736697T>GCA394563520CREBBPc.4513A>C (p.Lys1505Gln)
c.4399A>C (p.Lys1467Gln)
c.3148A>C (p.Lys1050Gln)
n.303A>C
n.334A>C
n.3336A>C
c.4468A>C (p.Lys1490Gln)
c.4096A>C (p.Lys1366Gln)
c.4252A>C (p.Lys1418Gln)
c.4459A>C (p.Lys1487Gln)
c.3760A>C (p.Lys1254Gln)
c.4507A>C (p.Lys1503Gln)
16g.3736698T>ACA394563524CREBBPc.4512A>T (p.Lys1504Asn)
c.4398A>T (p.Lys1466Asn)
c.3147A>T (p.Lys1049Asn)
n.302A>T
n.333A>T
n.3335A>T
c.4467A>T (p.Lys1489Asn)
c.4095A>T (p.Lys1365Asn)
c.4251A>T (p.Lys1417Asn)
c.4458A>T (p.Lys1486Asn)
c.3759A>T (p.Lys1253Asn)
c.4506A>T (p.Lys1502Asn)
16g.3736698T>CCA493279254CREBBPc.4512A>G (p.Lys1504=)
c.4398A>G (p.Lys1466=)
c.3147A>G (p.Lys1049=)
n.302A>G
n.333A>G
n.3335A>G
c.4467A>G (p.Lys1489=)
c.4095A>G (p.Lys1365=)
c.4251A>G (p.Lys1417=)
c.4458A>G (p.Lys1486=)
c.3759A>G (p.Lys1253=)
c.4506A>G (p.Lys1502=)
 dbSNP
16g.3736698T>GCA394563526CREBBPc.4512A>C (p.Lys1504Asn)
c.4398A>C (p.Lys1466Asn)
c.3147A>C (p.Lys1049Asn)
n.302A>C
n.333A>C
n.3335A>C
c.4467A>C (p.Lys1489Asn)
c.4095A>C (p.Lys1365Asn)
c.4251A>C (p.Lys1417Asn)
c.4458A>C (p.Lys1486Asn)
c.3759A>C (p.Lys1253Asn)
c.4506A>C (p.Lys1502Asn)
16g.3736698T=CA2202936595CREBBPc.4512A= (p.Lys1504=)
c.4398A= (p.Lys1466=)
c.3147A= (p.Lys1049=)
n.302A=
n.333A=
n.3335A=
c.4467A= (p.Lys1489=)
c.4095A= (p.Lys1365=)
c.4251A= (p.Lys1417=)
c.4458A= (p.Lys1486=)
c.3759A= (p.Lys1253=)
c.4506A= (p.Lys1502=)
16g.3736699T>ACA394563533CREBBPc.4511A>T (p.Lys1504Ile)
c.4397A>T (p.Lys1466Ile)
c.3146A>T (p.Lys1049Ile)
n.301A>T
n.332A>T
n.3334A>T
c.4466A>T (p.Lys1489Ile)
c.4094A>T (p.Lys1365Ile)
c.4250A>T (p.Lys1417Ile)
c.4457A>T (p.Lys1486Ile)
c.3758A>T (p.Lys1253Ile)
c.4505A>T (p.Lys1502Ile)
 dbSNP
16g.3736699T>CCA394563530CREBBPc.4511A>G (p.Lys1504Arg)
c.4397A>G (p.Lys1466Arg)
c.3146A>G (p.Lys1049Arg)
n.301A>G
n.332A>G
n.3334A>G
c.4466A>G (p.Lys1489Arg)
c.4094A>G (p.Lys1365Arg)
c.4250A>G (p.Lys1417Arg)
c.4457A>G (p.Lys1486Arg)
c.3758A>G (p.Lys1253Arg)
c.4505A>G (p.Lys1502Arg)
16g.3736699T>GCA394563529CREBBPc.4511A>C (p.Lys1504Thr)
c.4397A>C (p.Lys1466Thr)
c.3146A>C (p.Lys1049Thr)
n.301A>C
n.332A>C
n.3334A>C
c.4466A>C (p.Lys1489Thr)
c.4094A>C (p.Lys1365Thr)
c.4250A>C (p.Lys1417Thr)
c.4457A>C (p.Lys1486Thr)
c.3758A>C (p.Lys1253Thr)
c.4505A>C (p.Lys1502Thr)
 dbSNP
16g.3736700T>ACA394563535CREBBPc.4510A>T (p.Lys1504Ter)
c.4396A>T (p.Lys1466Ter)
c.3145A>T (p.Lys1049Ter)
n.300A>T
n.331A>T
n.3333A>T
c.4465A>T (p.Lys1489Ter)
c.4093A>T (p.Lys1365Ter)
c.4249A>T (p.Lys1417Ter)
c.4456A>T (p.Lys1486Ter)
c.3757A>T (p.Lys1253Ter)
c.4504A>T (p.Lys1502Ter)
16g.3736700T>CCA394563537CREBBPc.4510A>G (p.Lys1504Glu)
c.4396A>G (p.Lys1466Glu)
c.3145A>G (p.Lys1049Glu)
n.300A>G
n.331A>G
n.3333A>G
c.4465A>G (p.Lys1489Glu)
c.4093A>G (p.Lys1365Glu)
c.4249A>G (p.Lys1417Glu)
c.4456A>G (p.Lys1486Glu)
c.3757A>G (p.Lys1253Glu)
c.4504A>G (p.Lys1502Glu)
 dbSNP
16g.3736700T>GCA394563539CREBBPc.4510A>C (p.Lys1504Gln)
c.4396A>C (p.Lys1466Gln)
c.3145A>C (p.Lys1049Gln)
n.300A>C
n.331A>C
n.3333A>C
c.4465A>C (p.Lys1489Gln)
c.4093A>C (p.Lys1365Gln)
c.4249A>C (p.Lys1417Gln)
c.4456A>C (p.Lys1486Gln)
c.3757A>C (p.Lys1253Gln)
c.4504A>C (p.Lys1502Gln)
 dbSNP
16g.3736701G>ACA493279261CREBBPc.4509C>T (p.Tyr1503=)
c.4395C>T (p.Tyr1465=)
c.3144C>T (p.Tyr1048=)
n.299C>T
n.330C>T
n.3332C>T
c.4464C>T (p.Tyr1488=)
c.4092C>T (p.Tyr1364=)
c.4248C>T (p.Tyr1416=)
c.4455C>T (p.Tyr1485=)
c.3756C>T (p.Tyr1252=)
c.4503C>T (p.Tyr1501=)
16g.3736701G>CCA394563542CREBBPc.4509C>G (p.Tyr1503Ter)
c.4395C>G (p.Tyr1465Ter)
c.3144C>G (p.Tyr1048Ter)
n.299C>G
n.330C>G
n.3332C>G
c.4464C>G (p.Tyr1488Ter)
c.4092C>G (p.Tyr1364Ter)
c.4248C>G (p.Tyr1416Ter)
c.4455C>G (p.Tyr1485Ter)
c.3756C>G (p.Tyr1252Ter)
c.4503C>G (p.Tyr1501Ter)
 ClinVar dbSNP
16g.3736701G=CA2202936599CREBBPc.4509C= (p.Tyr1503=)
c.4395C= (p.Tyr1465=)
c.3144C= (p.Tyr1048=)
n.299C=
n.330C=
n.3332C=
c.4464C= (p.Tyr1488=)
c.4092C= (p.Tyr1364=)
c.4248C= (p.Tyr1416=)
c.4455C= (p.Tyr1485=)
c.3756C= (p.Tyr1252=)
c.4503C= (p.Tyr1501=)
16g.3736701G>TCA394563545CREBBPc.4509C>A (p.Tyr1503Ter)
c.4395C>A (p.Tyr1465Ter)
c.3144C>A (p.Tyr1048Ter)
n.299C>A
n.330C>A
n.3332C>A
c.4464C>A (p.Tyr1488Ter)
c.4092C>A (p.Tyr1364Ter)
c.4248C>A (p.Tyr1416Ter)
c.4455C>A (p.Tyr1485Ter)
c.3756C>A (p.Tyr1252Ter)
c.4503C>A (p.Tyr1501Ter)
 dbSNP
16g.3736702T>ACA394563547CREBBPc.4508A>T (p.Tyr1503Phe)
c.4394A>T (p.Tyr1465Phe)
c.3143A>T (p.Tyr1048Phe)
n.298A>T
n.329A>T
n.3331A>T
c.4463A>T (p.Tyr1488Phe)
c.4091A>T (p.Tyr1364Phe)
c.4247A>T (p.Tyr1416Phe)
c.4454A>T (p.Tyr1485Phe)
c.3755A>T (p.Tyr1252Phe)
c.4502A>T (p.Tyr1501Phe)
 dbSNP COSMIC
16g.3736702T>CCA271419CREBBPc.4508A>G (p.Tyr1503Cys)
c.4394A>G (p.Tyr1465Cys)
c.3143A>G (p.Tyr1048Cys)
n.298A>G
n.329A>G
n.3331A>G
c.4463A>G (p.Tyr1488Cys)
c.4091A>G (p.Tyr1364Cys)
c.4247A>G (p.Tyr1416Cys)
c.4454A>G (p.Tyr1485Cys)
c.3755A>G (p.Tyr1252Cys)
c.4502A>G (p.Tyr1501Cys)
 ClinVar dbSNP
16g.3736702T>GCA394563551CREBBPc.4508A>C (p.Tyr1503Ser)
c.4394A>C (p.Tyr1465Ser)
c.3143A>C (p.Tyr1048Ser)
n.298A>C
n.329A>C
n.3331A>C
c.4463A>C (p.Tyr1488Ser)
c.4091A>C (p.Tyr1364Ser)
c.4247A>C (p.Tyr1416Ser)
c.4454A>C (p.Tyr1485Ser)
c.3755A>C (p.Tyr1252Ser)
c.4502A>C (p.Tyr1501Ser)
 dbSNP gnomAD v4 COSMIC
16g.3736702T=CA2202936603CREBBPc.4508A= (p.Tyr1503=)
c.4394A= (p.Tyr1465=)
c.3143A= (p.Tyr1048=)
n.298A=
n.329A=
n.3331A=
c.4463A= (p.Tyr1488=)
c.4091A= (p.Tyr1364=)
c.4247A= (p.Tyr1416=)
c.4454A= (p.Tyr1485=)
c.3755A= (p.Tyr1252=)
c.4502A= (p.Tyr1501=)
16g.3736703A>CCA394563554CREBBPc.4507T>G (p.Tyr1503Asp)
c.4393T>G (p.Tyr1465Asp)
c.3142T>G (p.Tyr1048Asp)
n.297T>G
n.328T>G
n.3330T>G
c.4462T>G (p.Tyr1488Asp)
c.4090T>G (p.Tyr1364Asp)
c.4246T>G (p.Tyr1416Asp)
c.4453T>G (p.Tyr1485Asp)
c.3754T>G (p.Tyr1252Asp)
c.4501T>G (p.Tyr1501Asp)
 dbSNP COSMIC
16g.3736703A>GCA394563556CREBBPc.4507T>C (p.Tyr1503His)
c.4393T>C (p.Tyr1465His)
c.3142T>C (p.Tyr1048His)
n.297T>C
n.328T>C
n.3330T>C
c.4462T>C (p.Tyr1488His)
c.4090T>C (p.Tyr1364His)
c.4246T>C (p.Tyr1416His)
c.4453T>C (p.Tyr1485His)
c.3754T>C (p.Tyr1252His)
c.4501T>C (p.Tyr1501His)
 dbSNP COSMIC
16g.3736703A>TCA394563559CREBBPc.4507T>A (p.Tyr1503Asn)
c.4393T>A (p.Tyr1465Asn)
c.3142T>A (p.Tyr1048Asn)
n.297T>A
n.328T>A
n.3330T>A
c.4462T>A (p.Tyr1488Asn)
c.4090T>A (p.Tyr1364Asn)
c.4246T>A (p.Tyr1416Asn)
c.4453T>A (p.Tyr1485Asn)
c.3754T>A (p.Tyr1252Asn)
c.4501T>A (p.Tyr1501Asn)
 dbSNP COSMIC
16g.3736704C>ACA394563562CREBBPc.4506G>T (p.Trp1502Cys)
c.4392G>T (p.Trp1464Cys)
c.3141G>T (p.Trp1047Cys)
n.296G>T
n.327G>T
n.3329G>T
c.4461G>T (p.Trp1487Cys)
c.4089G>T (p.Trp1363Cys)
c.4245G>T (p.Trp1415Cys)
c.4452G>T (p.Trp1484Cys)
c.3753G>T (p.Trp1251Cys)
c.4500G>T (p.Trp1500Cys)
 dbSNP COSMIC
16g.3736704C>GCA394563564CREBBPc.4506G>C (p.Trp1502Cys)
c.4392G>C (p.Trp1464Cys)
c.3141G>C (p.Trp1047Cys)
n.296G>C
n.327G>C
n.3329G>C
c.4461G>C (p.Trp1487Cys)
c.4089G>C (p.Trp1363Cys)
c.4245G>C (p.Trp1415Cys)
c.4452G>C (p.Trp1484Cys)
c.3753G>C (p.Trp1251Cys)
c.4500G>C (p.Trp1500Cys)
 dbSNP
16g.3736704C>TCA394563567CREBBPc.4506G>A (p.Trp1502Ter)
c.4392G>A (p.Trp1464Ter)
c.3141G>A (p.Trp1047Ter)
n.296G>A
n.327G>A
n.3329G>A
c.4461G>A (p.Trp1487Ter)
c.4089G>A (p.Trp1363Ter)
c.4245G>A (p.Trp1415Ter)
c.4452G>A (p.Trp1484Ter)
c.3753G>A (p.Trp1251Ter)
c.4500G>A (p.Trp1500Ter)
 dbSNP COSMIC
16g.3736705C>ACA394563571CREBBPc.4505G>T (p.Trp1502Leu)
c.4391G>T (p.Trp1464Leu)
c.3140G>T (p.Trp1047Leu)
n.295G>T
n.326G>T
n.3328G>T
c.4460G>T (p.Trp1487Leu)
c.4088G>T (p.Trp1363Leu)
c.4244G>T (p.Trp1415Leu)
c.4451G>T (p.Trp1484Leu)
c.3752G>T (p.Trp1251Leu)
c.4499G>T (p.Trp1500Leu)
 dbSNP
16g.3736705C>GCA394563574CREBBPc.4505G>C (p.Trp1502Ser)
c.4391G>C (p.Trp1464Ser)
c.3140G>C (p.Trp1047Ser)
n.295G>C
n.326G>C
n.3328G>C
c.4460G>C (p.Trp1487Ser)
c.4088G>C (p.Trp1363Ser)
c.4244G>C (p.Trp1415Ser)
c.4451G>C (p.Trp1484Ser)
c.3752G>C (p.Trp1251Ser)
c.4499G>C (p.Trp1500Ser)
16g.3736705C>TCA394563570CREBBPc.4505G>A (p.Trp1502Ter)
c.4391G>A (p.Trp1464Ter)
c.3140G>A (p.Trp1047Ter)
n.295G>A
n.326G>A
n.3328G>A
c.4460G>A (p.Trp1487Ter)
c.4088G>A (p.Trp1363Ter)
c.4244G>A (p.Trp1415Ter)
c.4451G>A (p.Trp1484Ter)
c.3752G>A (p.Trp1251Ter)
c.4499G>A (p.Trp1500Ter)
 dbSNP COSMIC
16g.3736706A>CCA394563576CREBBPc.4504T>G (p.Trp1502Gly)
c.4390T>G (p.Trp1464Gly)
c.3139T>G (p.Trp1047Gly)
n.294T>G
n.325T>G
n.3327T>G
c.4459T>G (p.Trp1487Gly)
c.4087T>G (p.Trp1363Gly)
c.4243T>G (p.Trp1415Gly)
c.4450T>G (p.Trp1484Gly)
c.3751T>G (p.Trp1251Gly)
c.4498T>G (p.Trp1500Gly)
 dbSNP
16g.3736706A>GCA394563577CREBBPc.4504T>C (p.Trp1502Arg)
c.4390T>C (p.Trp1464Arg)
c.3139T>C (p.Trp1047Arg)
n.294T>C
n.325T>C
n.3327T>C
c.4459T>C (p.Trp1487Arg)
c.4087T>C (p.Trp1363Arg)
c.4243T>C (p.Trp1415Arg)
c.4450T>C (p.Trp1484Arg)
c.3751T>C (p.Trp1251Arg)
c.4498T>C (p.Trp1500Arg)
 dbSNP COSMIC
16g.3736706A>TCA394563579CREBBPc.4504T>A (p.Trp1502Arg)
c.4390T>A (p.Trp1464Arg)
c.3139T>A (p.Trp1047Arg)
n.294T>A
n.325T>A
n.3327T>A
c.4459T>A (p.Trp1487Arg)
c.4087T>A (p.Trp1363Arg)
c.4243T>A (p.Trp1415Arg)
c.4450T>A (p.Trp1484Arg)
c.3751T>A (p.Trp1251Arg)
c.4498T>A (p.Trp1500Arg)
 dbSNP
16g.3736707C>ACA394563580CREBBPc.4503G>T (p.Glu1501Asp)
c.4389G>T (p.Glu1463Asp)
c.3138G>T (p.Glu1046Asp)
n.293G>T
n.324G>T
n.3326G>T
c.4458G>T (p.Glu1486Asp)
c.4086G>T (p.Glu1362Asp)
c.4242G>T (p.Glu1414Asp)
c.4449G>T (p.Glu1483Asp)
c.3750G>T (p.Glu1250Asp)
c.4497G>T (p.Glu1499Asp)
16g.3736707C=CA2202936607CREBBPc.4503G= (p.Glu1501=)
c.4389G= (p.Glu1463=)
c.3138G= (p.Glu1046=)
n.293G=
n.324G=
n.3326G=
c.4458G= (p.Glu1486=)
c.4086G= (p.Glu1362=)
c.4242G= (p.Glu1414=)
c.4449G= (p.Glu1483=)
c.3750G= (p.Glu1250=)
c.4497G= (p.Glu1499=)
16g.3736707C>GCA394563582CREBBPc.4503G>C (p.Glu1501Asp)
c.4389G>C (p.Glu1463Asp)
c.3138G>C (p.Glu1046Asp)
n.293G>C
n.324G>C
n.3326G>C
c.4458G>C (p.Glu1486Asp)
c.4086G>C (p.Glu1362Asp)
c.4242G>C (p.Glu1414Asp)
c.4449G>C (p.Glu1483Asp)
c.3750G>C (p.Glu1250Asp)
c.4497G>C (p.Glu1499Asp)
 dbSNP
16g.3736707C>TCA7869514CREBBPc.4503G>A (p.Glu1501=)
c.4389G>A (p.Glu1463=)
c.3138G>A (p.Glu1046=)
n.293G>A
n.324G>A
n.3326G>A
c.4458G>A (p.Glu1486=)
c.4086G>A (p.Glu1362=)
c.4242G>A (p.Glu1414=)
c.4449G>A (p.Glu1483=)
c.3750G>A (p.Glu1250=)
c.4497G>A (p.Glu1499=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3736709_3736711delCA645575175CREBBPc.4501_4503del (p.Glu1501del)
c.4387_4389del (p.Glu1463del)
c.3136_3138del (p.Glu1046del)
n.291_293del
n.322_324del
n.3324_3326del
c.4456_4458del (p.Glu1486del)
c.4084_4086del (p.Glu1362del)
c.4240_4242del (p.Glu1414del)
c.4447_4449del (p.Glu1483del)
c.3748_3750del (p.Glu1250del)
c.4495_4497del (p.Glu1499del)
 COSMIC
16g.3736708T>ACA394563584CREBBPc.4502A>T (p.Glu1501Val)
c.4388A>T (p.Glu1463Val)
c.3137A>T (p.Glu1046Val)
n.292A>T
n.323A>T
n.3325A>T
c.4457A>T (p.Glu1486Val)
c.4085A>T (p.Glu1362Val)
c.4241A>T (p.Glu1414Val)
c.4448A>T (p.Glu1483Val)
c.3749A>T (p.Glu1250Val)
c.4496A>T (p.Glu1499Val)
16g.3736708T>CCA394563586CREBBPc.4502A>G (p.Glu1501Gly)
c.4388A>G (p.Glu1463Gly)
c.3137A>G (p.Glu1046Gly)
n.292A>G
n.323A>G
n.3325A>G
c.4457A>G (p.Glu1486Gly)
c.4085A>G (p.Glu1362Gly)
c.4241A>G (p.Glu1414Gly)
c.4448A>G (p.Glu1483Gly)
c.3749A>G (p.Glu1250Gly)
c.4496A>G (p.Glu1499Gly)
 dbSNP
16g.3736708T>GCA394563587CREBBPc.4502A>C (p.Glu1501Ala)
c.4388A>C (p.Glu1463Ala)
c.3137A>C (p.Glu1046Ala)
n.292A>C
n.323A>C
n.3325A>C
c.4457A>C (p.Glu1486Ala)
c.4085A>C (p.Glu1362Ala)
c.4241A>C (p.Glu1414Ala)
c.4448A>C (p.Glu1483Ala)
c.3749A>C (p.Glu1250Ala)
c.4496A>C (p.Glu1499Ala)
16g.3736709C>ACA394563589CREBBPc.4501G>T (p.Glu1501Ter)
c.4387G>T (p.Glu1463Ter)
c.3136G>T (p.Glu1046Ter)
n.291G>T
n.322G>T
n.3324G>T
c.4456G>T (p.Glu1486Ter)
c.4084G>T (p.Glu1362Ter)
c.4240G>T (p.Glu1414Ter)
c.4447G>T (p.Glu1483Ter)
c.3748G>T (p.Glu1250Ter)
c.4495G>T (p.Glu1499Ter)
 dbSNP
16g.3736709C>GCA394563591CREBBPc.4501G>C (p.Glu1501Gln)
c.4387G>C (p.Glu1463Gln)
c.3136G>C (p.Glu1046Gln)
n.291G>C
n.322G>C
n.3324G>C
c.4456G>C (p.Glu1486Gln)
c.4084G>C (p.Glu1362Gln)
c.4240G>C (p.Glu1414Gln)
c.4447G>C (p.Glu1483Gln)
c.3748G>C (p.Glu1250Gln)
c.4495G>C (p.Glu1499Gln)
 dbSNP
16g.3736709C>TCA394563593CREBBPc.4501G>A (p.Glu1501Lys)
c.4387G>A (p.Glu1463Lys)
c.3136G>A (p.Glu1046Lys)
n.291G>A
n.322G>A
n.3324G>A
c.4456G>A (p.Glu1486Lys)
c.4084G>A (p.Glu1362Lys)
c.4240G>A (p.Glu1414Lys)
c.4447G>A (p.Glu1483Lys)
c.3748G>A (p.Glu1250Lys)
c.4495G>A (p.Glu1499Lys)
 dbSNP
16g.3736710C>ACA394563599CREBBPc.4500G>T (p.Gln1500His)
c.4386G>T (p.Gln1462His)
c.3135G>T (p.Gln1045His)
n.290G>T
n.321G>T
n.3323G>T
c.4455G>T (p.Gln1485His)
c.4083G>T (p.Gln1361His)
c.4239G>T (p.Gln1413His)
c.4446G>T (p.Gln1482His)
c.3747G>T (p.Gln1249His)
c.4494G>T (p.Gln1498His)
16g.3736710C>GCA394563596CREBBPc.4500G>C (p.Gln1500His)
c.4386G>C (p.Gln1462His)
c.3135G>C (p.Gln1045His)
n.290G>C
n.321G>C
n.3323G>C
c.4455G>C (p.Gln1485His)
c.4083G>C (p.Gln1361His)
c.4239G>C (p.Gln1413His)
c.4446G>C (p.Gln1482His)
c.3747G>C (p.Gln1249His)
c.4494G>C (p.Gln1498His)
 dbSNP
16g.3736710C>TCA493279293CREBBPc.4500G>A (p.Gln1500=)
c.4386G>A (p.Gln1462=)
c.3135G>A (p.Gln1045=)
n.290G>A
n.321G>A
n.3323G>A
c.4455G>A (p.Gln1485=)
c.4083G>A (p.Gln1361=)
c.4239G>A (p.Gln1413=)
c.4446G>A (p.Gln1482=)
c.3747G>A (p.Gln1249=)
c.4494G>A (p.Gln1498=)
 dbSNP gnomAD v4
16g.3736711T>ACA394563602CREBBPc.4499A>T (p.Gln1500Leu)
c.4385A>T (p.Gln1462Leu)
c.3134A>T (p.Gln1045Leu)
n.289A>T
n.320A>T
n.3322A>T
c.4454A>T (p.Gln1485Leu)
c.4082A>T (p.Gln1361Leu)
c.4238A>T (p.Gln1413Leu)
c.4445A>T (p.Gln1482Leu)
c.3746A>T (p.Gln1249Leu)
c.4493A>T (p.Gln1498Leu)
 COSMIC
16g.3736711T>CCA394563605CREBBPc.4499A>G (p.Gln1500Arg)
c.4385A>G (p.Gln1462Arg)
c.3134A>G (p.Gln1045Arg)
n.289A>G
n.320A>G
n.3322A>G
c.4454A>G (p.Gln1485Arg)
c.4082A>G (p.Gln1361Arg)
c.4238A>G (p.Gln1413Arg)
c.4445A>G (p.Gln1482Arg)
c.3746A>G (p.Gln1249Arg)
c.4493A>G (p.Gln1498Arg)
 dbSNP
16g.3736711T>GCA394563607CREBBPc.4499A>C (p.Gln1500Pro)
c.4385A>C (p.Gln1462Pro)
c.3134A>C (p.Gln1045Pro)
n.289A>C
n.320A>C
n.3322A>C
c.4454A>C (p.Gln1485Pro)
c.4082A>C (p.Gln1361Pro)
c.4238A>C (p.Gln1413Pro)
c.4445A>C (p.Gln1482Pro)
c.3746A>C (p.Gln1249Pro)
c.4493A>C (p.Gln1498Pro)
 COSMIC
16g.3736712G>ACA394563610CREBBPc.4498C>T (p.Gln1500Ter)
c.4384C>T (p.Gln1462Ter)
c.3133C>T (p.Gln1045Ter)
n.288C>T
n.319C>T
n.3321C>T
c.4453C>T (p.Gln1485Ter)
c.4081C>T (p.Gln1361Ter)
c.4237C>T (p.Gln1413Ter)
c.4444C>T (p.Gln1482Ter)
c.3745C>T (p.Gln1249Ter)
c.4492C>T (p.Gln1498Ter)
 dbSNP
16g.3736712G>CCA394563613CREBBPc.4498C>G (p.Gln1500Glu)
c.4384C>G (p.Gln1462Glu)
c.3133C>G (p.Gln1045Glu)
n.288C>G
n.319C>G
n.3321C>G
c.4453C>G (p.Gln1485Glu)
c.4081C>G (p.Gln1361Glu)
c.4237C>G (p.Gln1413Glu)
c.4444C>G (p.Gln1482Glu)
c.3745C>G (p.Gln1249Glu)
c.4492C>G (p.Gln1498Glu)
 dbSNP
16g.3736712G>TCA394563616CREBBPc.4498C>A (p.Gln1500Lys)
c.4384C>A (p.Gln1462Lys)
c.3133C>A (p.Gln1045Lys)
n.288C>A
n.319C>A
n.3321C>A
c.4453C>A (p.Gln1485Lys)
c.4081C>A (p.Gln1361Lys)
c.4237C>A (p.Gln1413Lys)
c.4444C>A (p.Gln1482Lys)
c.3745C>A (p.Gln1249Lys)
c.4492C>A (p.Gln1498Lys)
 dbSNP
16g.3736713C>ACA493279301CREBBPc.4497G>T (p.Leu1499=)
c.4383G>T (p.Leu1461=)
c.3132G>T (p.Leu1044=)
n.287G>T
n.318G>T
n.3320G>T
c.4452G>T (p.Leu1484=)
c.4080G>T (p.Leu1360=)
c.4236G>T (p.Leu1412=)
c.4443G>T (p.Leu1481=)
c.3744G>T (p.Leu1248=)
c.4491G>T (p.Leu1497=)
 dbSNP
16g.3736713C>GCA493279305CREBBPc.4497G>C (p.Leu1499=)
c.4383G>C (p.Leu1461=)
c.3132G>C (p.Leu1044=)
n.287G>C
n.318G>C
n.3320G>C
c.4452G>C (p.Leu1484=)
c.4080G>C (p.Leu1360=)
c.4236G>C (p.Leu1412=)
c.4443G>C (p.Leu1481=)
c.3744G>C (p.Leu1248=)
c.4491G>C (p.Leu1497=)
 dbSNP gnomAD v4
16g.3736713C>TCA493279303CREBBPc.4497G>A (p.Leu1499=)
c.4383G>A (p.Leu1461=)
c.3132G>A (p.Leu1044=)
n.287G>A
n.318G>A
n.3320G>A
c.4452G>A (p.Leu1484=)
c.4080G>A (p.Leu1360=)
c.4236G>A (p.Leu1412=)
c.4443G>A (p.Leu1481=)
c.3744G>A (p.Leu1248=)
c.4491G>A (p.Leu1497=)
 dbSNP
16g.3736714A>CCA394563618CREBBPc.4496T>G (p.Leu1499Arg)
c.4382T>G (p.Leu1461Arg)
c.3131T>G (p.Leu1044Arg)
n.286T>G
n.317T>G
n.3319T>G
c.4451T>G (p.Leu1484Arg)
c.4079T>G (p.Leu1360Arg)
c.4235T>G (p.Leu1412Arg)
c.4442T>G (p.Leu1481Arg)
c.3743T>G (p.Leu1248Arg)
c.4490T>G (p.Leu1497Arg)
 COSMIC
16g.3736714A>GCA394563621CREBBPc.4496T>C (p.Leu1499Pro)
c.4382T>C (p.Leu1461Pro)
c.3131T>C (p.Leu1044Pro)
n.286T>C
n.317T>C
n.3319T>C
c.4451T>C (p.Leu1484Pro)
c.4079T>C (p.Leu1360Pro)
c.4235T>C (p.Leu1412Pro)
c.4442T>C (p.Leu1481Pro)
c.3743T>C (p.Leu1248Pro)
c.4490T>C (p.Leu1497Pro)
 gnomAD v4 COSMIC
16g.3736714A>TCA394563624CREBBPc.4496T>A (p.Leu1499Gln)
c.4382T>A (p.Leu1461Gln)
c.3131T>A (p.Leu1044Gln)
n.286T>A
n.317T>A
n.3319T>A
c.4451T>A (p.Leu1484Gln)
c.4079T>A (p.Leu1360Gln)
c.4235T>A (p.Leu1412Gln)
c.4442T>A (p.Leu1481Gln)
c.3743T>A (p.Leu1248Gln)
c.4490T>A (p.Leu1497Gln)
 dbSNP COSMIC
16g.3736715G>ACA493279311CREBBPc.4495C>T (p.Leu1499=)
c.4381C>T (p.Leu1461=)
c.3130C>T (p.Leu1044=)
n.285C>T
n.316C>T
n.3318C>T
c.4450C>T (p.Leu1484=)
c.4078C>T (p.Leu1360=)
c.4234C>T (p.Leu1412=)
c.4441C>T (p.Leu1481=)
c.3742C>T (p.Leu1248=)
c.4489C>T (p.Leu1497=)
 dbSNP
16g.3736715G>CCA394563628CREBBPc.4495C>G (p.Leu1499Val)
c.4381C>G (p.Leu1461Val)
c.3130C>G (p.Leu1044Val)
n.285C>G
n.316C>G
n.3318C>G
c.4450C>G (p.Leu1484Val)
c.4078C>G (p.Leu1360Val)
c.4234C>G (p.Leu1412Val)
c.4441C>G (p.Leu1481Val)
c.3742C>G (p.Leu1248Val)
c.4489C>G (p.Leu1497Val)
 ClinVar dbSNP
16g.3736715G=CA2202936613CREBBPc.4495C= (p.Leu1499=)
c.4381C= (p.Leu1461=)
c.3130C= (p.Leu1044=)
n.285C=
n.316C=
n.3318C=
c.4450C= (p.Leu1484=)
c.4078C= (p.Leu1360=)
c.4234C= (p.Leu1412=)
c.4441C= (p.Leu1481=)
c.3742C= (p.Leu1248=)
c.4489C= (p.Leu1497=)
16g.3736715G>TCA394563629CREBBPc.4495C>A (p.Leu1499Met)
c.4381C>A (p.Leu1461Met)
c.3130C>A (p.Leu1044Met)
n.285C>A
n.316C>A
n.3318C>A
c.4450C>A (p.Leu1484Met)
c.4078C>A (p.Leu1360Met)
c.4234C>A (p.Leu1412Met)
c.4441C>A (p.Leu1481Met)
c.3742C>A (p.Leu1248Met)
c.4489C>A (p.Leu1497Met)
16g.3736716T>ACA493279312CREBBPc.4494A>T (p.Arg1498=)
c.4380A>T (p.Arg1460=)
c.3129A>T (p.Arg1043=)
n.284A>T
n.315A>T
n.3317A>T
c.4449A>T (p.Arg1483=)
c.4077A>T (p.Arg1359=)
c.4233A>T (p.Arg1411=)
c.4440A>T (p.Arg1480=)
c.3741A>T (p.Arg1247=)
c.4488A>T (p.Arg1496=)
16g.3736716T>CCA202087CREBBPc.4494A>G (p.Arg1498=)
c.4380A>G (p.Arg1460=)
c.3129A>G (p.Arg1043=)
n.284A>G
n.315A>G
n.3317A>G
c.4449A>G (p.Arg1483=)
c.4077A>G (p.Arg1359=)
c.4233A>G (p.Arg1411=)
c.4440A>G (p.Arg1480=)
c.3741A>G (p.Arg1247=)
c.4488A>G (p.Arg1496=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3736716T>GCA493279316CREBBPc.4494A>C (p.Arg1498=)
c.4380A>C (p.Arg1460=)
c.3129A>C (p.Arg1043=)
n.284A>C
n.315A>C
n.3317A>C
c.4449A>C (p.Arg1483=)
c.4077A>C (p.Arg1359=)
c.4233A>C (p.Arg1411=)
c.4440A>C (p.Arg1480=)
c.3741A>C (p.Arg1247=)
c.4488A>C (p.Arg1496=)
16g.3736716T=CA2202936620CREBBPc.4494A= (p.Arg1498=)
c.4380A= (p.Arg1460=)
c.3129A= (p.Arg1043=)
n.284A=
n.315A=
n.3317A=
c.4449A= (p.Arg1483=)
c.4077A= (p.Arg1359=)
c.4233A= (p.Arg1411=)
c.4440A= (p.Arg1480=)
c.3741A= (p.Arg1247=)
c.4488A= (p.Arg1496=)
16g.3736717C>ACA394563634CREBBPc.4493G>T (p.Arg1498Leu)
c.4379G>T (p.Arg1460Leu)
c.3128G>T (p.Arg1043Leu)
n.283G>T
n.314G>T
n.3316G>T
c.4448G>T (p.Arg1483Leu)
c.4076G>T (p.Arg1359Leu)
c.4232G>T (p.Arg1411Leu)
c.4439G>T (p.Arg1480Leu)
c.3740G>T (p.Arg1247Leu)
c.4487G>T (p.Arg1496Leu)
 dbSNP gnomAD v4
16g.3736717C=CA2202936625CREBBPc.4493G= (p.Arg1498=)
c.4379G= (p.Arg1460=)
c.3128G= (p.Arg1043=)
n.283G=
n.314G=
n.3316G=
c.4448G= (p.Arg1483=)
c.4076G= (p.Arg1359=)
c.4232G= (p.Arg1411=)
c.4439G= (p.Arg1480=)
c.3740G= (p.Arg1247=)
c.4487G= (p.Arg1496=)
16g.3736717C>GCA394563637CREBBPc.4493G>C (p.Arg1498Pro)
c.4379G>C (p.Arg1460Pro)
c.3128G>C (p.Arg1043Pro)
n.283G>C
n.314G>C
n.3316G>C
c.4448G>C (p.Arg1483Pro)
c.4076G>C (p.Arg1359Pro)
c.4232G>C (p.Arg1411Pro)
c.4439G>C (p.Arg1480Pro)
c.3740G>C (p.Arg1247Pro)
c.4487G>C (p.Arg1496Pro)
 dbSNP
16g.3736717C>TCA394563635CREBBPc.4493G>A (p.Arg1498Gln)
c.4379G>A (p.Arg1460Gln)
c.3128G>A (p.Arg1043Gln)
n.283G>A
n.314G>A
n.3316G>A
c.4448G>A (p.Arg1483Gln)
c.4076G>A (p.Arg1359Gln)
c.4232G>A (p.Arg1411Gln)
c.4439G>A (p.Arg1480Gln)
c.3740G>A (p.Arg1247Gln)
c.4487G>A (p.Arg1496Gln)
 ClinVar dbSNP gnomAD v4
16g.3736718G>ACA394563638CREBBPc.4492C>T (p.Arg1498Ter)
c.4378C>T (p.Arg1460Ter)
c.3127C>T (p.Arg1043Ter)
n.282C>T
n.313C>T
n.3315C>T
c.4447C>T (p.Arg1483Ter)
c.4075C>T (p.Arg1359Ter)
c.4231C>T (p.Arg1411Ter)
c.4438C>T (p.Arg1480Ter)
c.3739C>T (p.Arg1247Ter)
c.4486C>T (p.Arg1496Ter)
 ClinVar dbSNP COSMIC
16g.3736718G>CCA394563641CREBBPc.4492C>G (p.Arg1498Gly)
c.4378C>G (p.Arg1460Gly)
c.3127C>G (p.Arg1043Gly)
n.282C>G
n.313C>G
n.3315C>G
c.4447C>G (p.Arg1483Gly)
c.4075C>G (p.Arg1359Gly)
c.4231C>G (p.Arg1411Gly)
c.4438C>G (p.Arg1480Gly)
c.3739C>G (p.Arg1247Gly)
c.4486C>G (p.Arg1496Gly)
16g.3736718G=CA2202936630CREBBPc.4492C= (p.Arg1498=)
c.4378C= (p.Arg1460=)
c.3127C= (p.Arg1043=)
n.282C=
n.313C=
n.3315C=
c.4447C= (p.Arg1483=)
c.4075C= (p.Arg1359=)
c.4231C= (p.Arg1411=)
c.4438C= (p.Arg1480=)
c.3739C= (p.Arg1247=)
c.4486C= (p.Arg1496=)
16g.3736718G>TCA493279326CREBBPc.4492C>A (p.Arg1498=)
c.4378C>A (p.Arg1460=)
c.3127C>A (p.Arg1043=)
n.282C>A
n.313C>A
n.3315C>A
c.4447C>A (p.Arg1483=)
c.4075C>A (p.Arg1359=)
c.4231C>A (p.Arg1411=)
c.4438C>A (p.Arg1480=)
c.3739C>A (p.Arg1247=)
c.4486C>A (p.Arg1496=)
16g.3736719T>ACA394563643CREBBPc.4491A>T (p.Lys1497Asn)
c.4377A>T (p.Lys1459Asn)
c.3126A>T (p.Lys1042Asn)
n.281A>T
n.312A>T
n.3314A>T
c.4446A>T (p.Lys1482Asn)
c.4074A>T (p.Lys1358Asn)
c.4230A>T (p.Lys1410Asn)
c.4437A>T (p.Lys1479Asn)
c.3738A>T (p.Lys1246Asn)
c.4485A>T (p.Lys1495Asn)
 dbSNP
16g.3736719T>CCA493279329CREBBPc.4491A>G (p.Lys1497=)
c.4377A>G (p.Lys1459=)
c.3126A>G (p.Lys1042=)
n.281A>G
n.312A>G
n.3314A>G
c.4446A>G (p.Lys1482=)
c.4074A>G (p.Lys1358=)
c.4230A>G (p.Lys1410=)
c.4437A>G (p.Lys1479=)
c.3738A>G (p.Lys1246=)
c.4485A>G (p.Lys1495=)
16g.3736719T>GCA394563646CREBBPc.4491A>C (p.Lys1497Asn)
c.4377A>C (p.Lys1459Asn)
c.3126A>C (p.Lys1042Asn)
n.281A>C
n.312A>C
n.3314A>C
c.4446A>C (p.Lys1482Asn)
c.4074A>C (p.Lys1358Asn)
c.4230A>C (p.Lys1410Asn)
c.4437A>C (p.Lys1479Asn)
c.3738A>C (p.Lys1246Asn)
c.4485A>C (p.Lys1495Asn)
 dbSNP
16g.3736719_3736720insGCA2631401613CREBBPc.4490_4491insC (p.Lys1497AsnfsTer22)
c.4376_4377insC (p.Lys1459AsnfsTer22)
c.3125_3126insC (p.Lys1042AsnfsTer22)
n.280_281insC
n.311_312insC
n.3313_3314insC
c.4445_4446insC (p.Lys1482AsnfsTer22)
c.4073_4074insC (p.Lys1358AsnfsTer22)
c.4229_4230insC (p.Lys1410AsnfsTer22)
c.4436_4437insC (p.Lys1479AsnfsTer22)
c.3737_3738insC (p.Lys1246AsnfsTer22)
c.4484_4485insC (p.Lys1495AsnfsTer22)
 gnomAD v4
16g.3736720T>ACA394563650CREBBPc.4490A>T (p.Lys1497Ile)
c.4376A>T (p.Lys1459Ile)
c.3125A>T (p.Lys1042Ile)
n.280A>T
n.311A>T
n.3313A>T
c.4445A>T (p.Lys1482Ile)
c.4073A>T (p.Lys1358Ile)
c.4229A>T (p.Lys1410Ile)
c.4436A>T (p.Lys1479Ile)
c.3737A>T (p.Lys1246Ile)
c.4484A>T (p.Lys1495Ile)
 dbSNP
16g.3736720T>CCA394563654CREBBPc.4490A>G (p.Lys1497Arg)
c.4376A>G (p.Lys1459Arg)
c.3125A>G (p.Lys1042Arg)
n.280A>G
n.311A>G
n.3313A>G
c.4445A>G (p.Lys1482Arg)
c.4073A>G (p.Lys1358Arg)
c.4229A>G (p.Lys1410Arg)
c.4436A>G (p.Lys1479Arg)
c.3737A>G (p.Lys1246Arg)
c.4484A>G (p.Lys1495Arg)
 dbSNP
16g.3736720T>GCA394563651CREBBPc.4490A>C (p.Lys1497Thr)
c.4376A>C (p.Lys1459Thr)
c.3125A>C (p.Lys1042Thr)
n.280A>C
n.311A>C
n.3313A>C
c.4445A>C (p.Lys1482Thr)
c.4073A>C (p.Lys1358Thr)
c.4229A>C (p.Lys1410Thr)
c.4436A>C (p.Lys1479Thr)
c.3737A>C (p.Lys1246Thr)
c.4484A>C (p.Lys1495Thr)
 ClinVar dbSNP gnomAD v3 gnomAD v4
16g.3736720T=CA2202936635CREBBPc.4490A= (p.Lys1497=)
c.4376A= (p.Lys1459=)
c.3125A= (p.Lys1042=)
n.280A=
n.311A=
n.3313A=
c.4445A= (p.Lys1482=)
c.4073A= (p.Lys1358=)
c.4229A= (p.Lys1410=)
c.4436A= (p.Lys1479=)
c.3737A= (p.Lys1246=)
c.4484A= (p.Lys1495=)
16g.3736721T>ACA394563657CREBBPc.4489A>T (p.Lys1497Ter)
c.4375A>T (p.Lys1459Ter)
c.3124A>T (p.Lys1042Ter)
n.279A>T
n.310A>T
n.3312A>T
c.4444A>T (p.Lys1482Ter)
c.4072A>T (p.Lys1358Ter)
c.4228A>T (p.Lys1410Ter)
c.4435A>T (p.Lys1479Ter)
c.3736A>T (p.Lys1246Ter)
c.4483A>T (p.Lys1495Ter)
 dbSNP
16g.3736721T>CCA394563658CREBBPc.4489A>G (p.Lys1497Glu)
c.4375A>G (p.Lys1459Glu)
c.3124A>G (p.Lys1042Glu)
n.279A>G
n.310A>G
n.3312A>G
c.4444A>G (p.Lys1482Glu)
c.4072A>G (p.Lys1358Glu)
c.4228A>G (p.Lys1410Glu)
c.4435A>G (p.Lys1479Glu)
c.3736A>G (p.Lys1246Glu)
c.4483A>G (p.Lys1495Glu)
 dbSNP
16g.3736721T>GCA394563660CREBBPc.4489A>C (p.Lys1497Gln)
c.4375A>C (p.Lys1459Gln)
c.3124A>C (p.Lys1042Gln)
n.279A>C
n.310A>C
n.3312A>C
c.4444A>C (p.Lys1482Gln)
c.4072A>C (p.Lys1358Gln)
c.4228A>C (p.Lys1410Gln)
c.4435A>C (p.Lys1479Gln)
c.3736A>C (p.Lys1246Gln)
c.4483A>C (p.Lys1495Gln)
16g.3736722T>ACA493279335CREBBPc.4488A>T (p.Pro1496=)
c.4374A>T (p.Pro1458=)
c.3123A>T (p.Pro1041=)
n.278A>T
n.309A>T
n.3311A>T
c.4443A>T (p.Pro1481=)
c.4071A>T (p.Pro1357=)
c.4227A>T (p.Pro1409=)
c.4434A>T (p.Pro1478=)
c.3735A>T (p.Pro1245=)
c.4482A>T (p.Pro1494=)
 dbSNP
16g.3736722T>CCA493279337CREBBPc.4488A>G (p.Pro1496=)
c.4374A>G (p.Pro1458=)
c.3123A>G (p.Pro1041=)
n.278A>G
n.309A>G
n.3311A>G
c.4443A>G (p.Pro1481=)
c.4071A>G (p.Pro1357=)
c.4227A>G (p.Pro1409=)
c.4434A>G (p.Pro1478=)
c.3735A>G (p.Pro1245=)
c.4482A>G (p.Pro1494=)
 ClinVar dbSNP gnomAD v4
16g.3736722T>GCA493279339CREBBPc.4488A>C (p.Pro1496=)
c.4374A>C (p.Pro1458=)
c.3123A>C (p.Pro1041=)
n.278A>C
n.309A>C
n.3311A>C
c.4443A>C (p.Pro1481=)
c.4071A>C (p.Pro1357=)
c.4227A>C (p.Pro1409=)
c.4434A>C (p.Pro1478=)
c.3735A>C (p.Pro1245=)
c.4482A>C (p.Pro1494=)
 gnomAD v4
16g.3736722T=CA2202936639CREBBPc.4488A= (p.Pro1496=)
c.4374A= (p.Pro1458=)
c.3123A= (p.Pro1041=)
n.278A=
n.309A=
n.3311A=
c.4443A= (p.Pro1481=)
c.4071A= (p.Pro1357=)
c.4227A= (p.Pro1409=)
c.4434A= (p.Pro1478=)
c.3735A= (p.Pro1245=)
c.4482A= (p.Pro1494=)
16g.3736723G>ACA394563662CREBBPc.4487C>T (p.Pro1496Leu)
c.4373C>T (p.Pro1458Leu)
c.3122C>T (p.Pro1041Leu)
n.277C>T
n.308C>T
n.3310C>T
c.4442C>T (p.Pro1481Leu)
c.4070C>T (p.Pro1357Leu)
c.4226C>T (p.Pro1409Leu)
c.4433C>T (p.Pro1478Leu)
c.3734C>T (p.Pro1245Leu)
c.4481C>T (p.Pro1494Leu)
 dbSNP
16g.3736723G>CCA394563664CREBBPc.4487C>G (p.Pro1496Arg)
c.4373C>G (p.Pro1458Arg)
c.3122C>G (p.Pro1041Arg)
n.277C>G
n.308C>G
n.3310C>G
c.4442C>G (p.Pro1481Arg)
c.4070C>G (p.Pro1357Arg)
c.4226C>G (p.Pro1409Arg)
c.4433C>G (p.Pro1478Arg)
c.3734C>G (p.Pro1245Arg)
c.4481C>G (p.Pro1494Arg)
 dbSNP
16g.3736723G>TCA394563665CREBBPc.4487C>A (p.Pro1496Gln)
c.4373C>A (p.Pro1458Gln)
c.3122C>A (p.Pro1041Gln)
n.277C>A
n.308C>A
n.3310C>A
c.4442C>A (p.Pro1481Gln)
c.4070C>A (p.Pro1357Gln)
c.4226C>A (p.Pro1409Gln)
c.4433C>A (p.Pro1478Gln)
c.3734C>A (p.Pro1245Gln)
c.4481C>A (p.Pro1494Gln)
 dbSNP gnomAD v4
16g.3736724G>ACA394563666CREBBPc.4486C>T (p.Pro1496Ser)
c.4372C>T (p.Pro1458Ser)
c.3121C>T (p.Pro1041Ser)
n.276C>T
n.307C>T
n.3309C>T
c.4441C>T (p.Pro1481Ser)
c.4069C>T (p.Pro1357Ser)
c.4225C>T (p.Pro1409Ser)
c.4432C>T (p.Pro1478Ser)
c.3733C>T (p.Pro1245Ser)
c.4480C>T (p.Pro1494Ser)
 dbSNP
16g.3736724G>CCA394563668CREBBPc.4486C>G (p.Pro1496Ala)
c.4372C>G (p.Pro1458Ala)
c.3121C>G (p.Pro1041Ala)
n.276C>G
n.307C>G
n.3309C>G
c.4441C>G (p.Pro1481Ala)
c.4069C>G (p.Pro1357Ala)
c.4225C>G (p.Pro1409Ala)
c.4432C>G (p.Pro1478Ala)
c.3733C>G (p.Pro1245Ala)
c.4480C>G (p.Pro1494Ala)
 dbSNP
16g.3736724G>TCA394563671CREBBPc.4486C>A (p.Pro1496Thr)
c.4372C>A (p.Pro1458Thr)
c.3121C>A (p.Pro1041Thr)
n.276C>A
n.307C>A
n.3309C>A
c.4441C>A (p.Pro1481Thr)
c.4069C>A (p.Pro1357Thr)
c.4225C>A (p.Pro1409Thr)
c.4432C>A (p.Pro1478Thr)
c.3733C>A (p.Pro1245Thr)
c.4480C>A (p.Pro1494Thr)
 dbSNP
16g.3736725delCA2631401615CREBBPc.4485del (p.Lys1495AsnfsTer?)
c.4371del (p.Lys1457AsnfsTer?)
c.3120del (p.Lys1040AsnfsTer?)
n.275del
n.306del
n.3308del
c.4440del (p.Lys1480AsnfsTer?)
c.4068del (p.Lys1356AsnfsTer?)
c.4224del (p.Lys1408AsnfsTer?)
c.4431del (p.Lys1477AsnfsTer?)
c.3732del (p.Lys1244AsnfsTer?)
c.4479del (p.Lys1493AsnfsTer?)
 gnomAD v4
16g.3736725C>ACA394563672CREBBPc.4485G>T (p.Lys1495Asn)
c.4371G>T (p.Lys1457Asn)
c.3120G>T (p.Lys1040Asn)
n.275G>T
n.306G>T
n.3308G>T
c.4440G>T (p.Lys1480Asn)
c.4068G>T (p.Lys1356Asn)
c.4224G>T (p.Lys1408Asn)
c.4431G>T (p.Lys1477Asn)
c.3732G>T (p.Lys1244Asn)
c.4479G>T (p.Lys1493Asn)
 dbSNP
16g.3736725C>GCA394563675CREBBPc.4485G>C (p.Lys1495Asn)
c.4371G>C (p.Lys1457Asn)
c.3120G>C (p.Lys1040Asn)
n.275G>C
n.306G>C
n.3308G>C
c.4440G>C (p.Lys1480Asn)
c.4068G>C (p.Lys1356Asn)
c.4224G>C (p.Lys1408Asn)
c.4431G>C (p.Lys1477Asn)
c.3732G>C (p.Lys1244Asn)
c.4479G>C (p.Lys1493Asn)
 ClinVar dbSNP gnomAD v3 gnomAD v4
16g.3736725C>TCA493279352CREBBPc.4485G>A (p.Lys1495=)
c.4371G>A (p.Lys1457=)
c.3120G>A (p.Lys1040=)
n.275G>A
n.306G>A
n.3308G>A
c.4440G>A (p.Lys1480=)
c.4068G>A (p.Lys1356=)
c.4224G>A (p.Lys1408=)
c.4431G>A (p.Lys1477=)
c.3732G>A (p.Lys1244=)
c.4479G>A (p.Lys1493=)
 dbSNP
16g.3736726T>ACA394563679CREBBPc.4484A>T (p.Lys1495Met)
c.4370A>T (p.Lys1457Met)
c.3119A>T (p.Lys1040Met)
n.274A>T
n.305A>T
n.3307A>T
c.4439A>T (p.Lys1480Met)
c.4067A>T (p.Lys1356Met)
c.4223A>T (p.Lys1408Met)
c.4430A>T (p.Lys1477Met)
c.3731A>T (p.Lys1244Met)
c.4478A>T (p.Lys1493Met)
 dbSNP
16g.3736726T>CCA394563676CREBBPc.4484A>G (p.Lys1495Arg)
c.4370A>G (p.Lys1457Arg)
c.3119A>G (p.Lys1040Arg)
n.274A>G
n.305A>G
n.3307A>G
c.4439A>G (p.Lys1480Arg)
c.4067A>G (p.Lys1356Arg)
c.4223A>G (p.Lys1408Arg)
c.4430A>G (p.Lys1477Arg)
c.3731A>G (p.Lys1244Arg)
c.4478A>G (p.Lys1493Arg)
 dbSNP
16g.3736726T>GCA394563678CREBBPc.4484A>C (p.Lys1495Thr)
c.4370A>C (p.Lys1457Thr)
c.3119A>C (p.Lys1040Thr)
n.274A>C
n.305A>C
n.3307A>C
c.4439A>C (p.Lys1480Thr)
c.4067A>C (p.Lys1356Thr)
c.4223A>C (p.Lys1408Thr)
c.4430A>C (p.Lys1477Thr)
c.3731A>C (p.Lys1244Thr)
c.4478A>C (p.Lys1493Thr)
 ClinVar gnomAD v4
16g.3736726T=CA2202936645CREBBPc.4484A= (p.Lys1495=)
c.4370A= (p.Lys1457=)
c.3119A= (p.Lys1040=)
n.274A=
n.305A=
n.3307A=
c.4439A= (p.Lys1480=)
c.4067A= (p.Lys1356=)
c.4223A= (p.Lys1408=)
c.4430A= (p.Lys1477=)
c.3731A= (p.Lys1244=)
c.4478A= (p.Lys1493=)
16g.3736727T>ACA394563682CREBBPc.4483A>T (p.Lys1495Ter)
c.4369A>T (p.Lys1457Ter)
c.3118A>T (p.Lys1040Ter)
n.273A>T
n.304A>T
n.3306A>T
c.4438A>T (p.Lys1480Ter)
c.4066A>T (p.Lys1356Ter)
c.4222A>T (p.Lys1408Ter)
c.4429A>T (p.Lys1477Ter)
c.3730A>T (p.Lys1244Ter)
c.4477A>T (p.Lys1493Ter)
 COSMIC
16g.3736727T>CCA394563684CREBBPc.4483A>G (p.Lys1495Glu)
c.4369A>G (p.Lys1457Glu)
c.3118A>G (p.Lys1040Glu)
n.273A>G
n.304A>G
n.3306A>G
c.4438A>G (p.Lys1480Glu)
c.4066A>G (p.Lys1356Glu)
c.4222A>G (p.Lys1408Glu)
c.4429A>G (p.Lys1477Glu)
c.3730A>G (p.Lys1244Glu)
c.4477A>G (p.Lys1493Glu)
16g.3736727T>GCA394563686CREBBPc.4483A>C (p.Lys1495Gln)
c.4369A>C (p.Lys1457Gln)
c.3118A>C (p.Lys1040Gln)
n.273A>C
n.304A>C
n.3306A>C
c.4438A>C (p.Lys1480Gln)
c.4066A>C (p.Lys1356Gln)
c.4222A>C (p.Lys1408Gln)
c.4429A>C (p.Lys1477Gln)
c.3730A>C (p.Lys1244Gln)
c.4477A>C (p.Lys1493Gln)
16g.3736728G>ACA493279361CREBBPc.4482C>T (p.Pro1494=)
c.4368C>T (p.Pro1456=)
c.3117C>T (p.Pro1039=)
n.272C>T
n.303C>T
n.3305C>T
c.4437C>T (p.Pro1479=)
c.4065C>T (p.Pro1355=)
c.4221C>T (p.Pro1407=)
c.4428C>T (p.Pro1476=)
c.3729C>T (p.Pro1243=)
c.4476C>T (p.Pro1492=)
 dbSNP
16g.3736728G>CCA493279362CREBBPc.4482C>G (p.Pro1494=)
c.4368C>G (p.Pro1456=)
c.3117C>G (p.Pro1039=)
n.272C>G
n.303C>G
n.3305C>G
c.4437C>G (p.Pro1479=)
c.4065C>G (p.Pro1355=)
c.4221C>G (p.Pro1407=)
c.4428C>G (p.Pro1476=)
c.3729C>G (p.Pro1243=)
c.4476C>G (p.Pro1492=)
16g.3736728G>TCA493279363CREBBPc.4482C>A (p.Pro1494=)
c.4368C>A (p.Pro1456=)
c.3117C>A (p.Pro1039=)
n.272C>A
n.303C>A
n.3305C>A
c.4437C>A (p.Pro1479=)
c.4065C>A (p.Pro1355=)
c.4221C>A (p.Pro1407=)
c.4428C>A (p.Pro1476=)
c.3729C>A (p.Pro1243=)
c.4476C>A (p.Pro1492=)
 dbSNP
16g.3736730dupCA2695222629CREBBPc.4482dup (p.Lys1495GlnfsTer24)
c.4368dup (p.Lys1457GlnfsTer24)
c.3117dup (p.Lys1040GlnfsTer24)
n.272dup
n.303dup
n.3305dup
c.4437dup (p.Lys1480GlnfsTer24)
c.4065dup (p.Lys1356GlnfsTer24)
c.4221dup (p.Lys1408GlnfsTer24)
c.4428dup (p.Lys1477GlnfsTer24)
c.3729dup (p.Lys1244GlnfsTer24)
c.4476dup (p.Lys1493GlnfsTer24)
16g.3736730delCA2580091147CREBBPc.4482del (p.Lys1495SerfsTer?)
c.4368del (p.Lys1457SerfsTer?)
c.3117del (p.Lys1040SerfsTer?)
n.272del
n.303del
n.3305del
c.4437del (p.Lys1480SerfsTer?)
c.4065del (p.Lys1356SerfsTer?)
c.4221del (p.Lys1408SerfsTer?)
c.4428del (p.Lys1477SerfsTer?)
c.3729del (p.Lys1244SerfsTer?)
c.4476del (p.Lys1493SerfsTer?)
 ClinVar dbSNP
16g.3736729G>ACA394563689CREBBPc.4481C>T (p.Pro1494Leu)
c.4367C>T (p.Pro1456Leu)
c.3116C>T (p.Pro1039Leu)
n.271C>T
n.302C>T
n.3304C>T
c.4436C>T (p.Pro1479Leu)
c.4064C>T (p.Pro1355Leu)
c.4220C>T (p.Pro1407Leu)
c.4427C>T (p.Pro1476Leu)
c.3728C>T (p.Pro1243Leu)
c.4475C>T (p.Pro1492Leu)
 dbSNP
16g.3736729G>CCA222697CREBBPc.4481C>G (p.Pro1494Arg)
c.4367C>G (p.Pro1456Arg)
c.3116C>G (p.Pro1039Arg)
n.271C>G
n.302C>G
n.3304C>G
c.4436C>G (p.Pro1479Arg)
c.4064C>G (p.Pro1355Arg)
c.4220C>G (p.Pro1407Arg)
c.4427C>G (p.Pro1476Arg)
c.3728C>G (p.Pro1243Arg)
c.4475C>G (p.Pro1492Arg)
 ClinVar dbSNP
16g.3736729G=CA2202936648CREBBPc.4481C= (p.Pro1494=)
c.4367C= (p.Pro1456=)
c.3116C= (p.Pro1039=)
n.271C=
n.302C=
n.3304C=
c.4436C= (p.Pro1479=)
c.4064C= (p.Pro1355=)
c.4220C= (p.Pro1407=)
c.4427C= (p.Pro1476=)
c.3728C= (p.Pro1243=)
c.4475C= (p.Pro1492=)
16g.3736729G>TCA394563693CREBBPc.4481C>A (p.Pro1494His)
c.4367C>A (p.Pro1456His)
c.3116C>A (p.Pro1039His)
n.271C>A
n.302C>A
n.3304C>A
c.4436C>A (p.Pro1479His)
c.4064C>A (p.Pro1355His)
c.4220C>A (p.Pro1407His)
c.4427C>A (p.Pro1476His)
c.3728C>A (p.Pro1243His)
c.4475C>A (p.Pro1492His)
 dbSNP
16g.3736730G>ACA394563695CREBBPc.4480C>T (p.Pro1494Ser)
c.4366C>T (p.Pro1456Ser)
c.3115C>T (p.Pro1039Ser)
n.270C>T
n.301C>T
n.3303C>T
c.4435C>T (p.Pro1479Ser)
c.4063C>T (p.Pro1355Ser)
c.4219C>T (p.Pro1407Ser)
c.4426C>T (p.Pro1476Ser)
c.3727C>T (p.Pro1243Ser)
c.4474C>T (p.Pro1492Ser)
 ClinVar dbSNP
16g.3736730G>CCA394563697CREBBPc.4480C>G (p.Pro1494Ala)
c.4366C>G (p.Pro1456Ala)
c.3115C>G (p.Pro1039Ala)
n.270C>G
n.301C>G
n.3303C>G
c.4435C>G (p.Pro1479Ala)
c.4063C>G (p.Pro1355Ala)
c.4219C>G (p.Pro1407Ala)
c.4426C>G (p.Pro1476Ala)
c.3727C>G (p.Pro1243Ala)
c.4474C>G (p.Pro1492Ala)
 dbSNP
16g.3736730G=CA2202936653CREBBPc.4480C= (p.Pro1494=)
c.4366C= (p.Pro1456=)
c.3115C= (p.Pro1039=)
n.270C=
n.301C=
n.3303C=
c.4435C= (p.Pro1479=)
c.4063C= (p.Pro1355=)
c.4219C= (p.Pro1407=)
c.4426C= (p.Pro1476=)
c.3727C= (p.Pro1243=)
c.4474C= (p.Pro1492=)
16g.3736730G>TCA276980075CREBBPc.4480C>A (p.Pro1494Thr)
c.4366C>A (p.Pro1456Thr)
c.3115C>A (p.Pro1039Thr)
n.270C>A
n.301C>A
n.3303C>A
c.4435C>A (p.Pro1479Thr)
c.4063C>A (p.Pro1355Thr)
c.4219C>A (p.Pro1407Thr)
c.4426C>A (p.Pro1476Thr)
c.3727C>A (p.Pro1243Thr)
c.4474C>A (p.Pro1492Thr)
 dbSNP COSMIC
16g.3736731T>ACA493279376CREBBPc.4479A>T (p.Ile1493=)
c.4365A>T (p.Ile1455=)
c.3114A>T (p.Ile1038=)
n.269A>T
n.300A>T
n.3302A>T
c.4434A>T (p.Ile1478=)
c.4062A>T (p.Ile1354=)
c.4218A>T (p.Ile1406=)
c.4425A>T (p.Ile1475=)
c.3726A>T (p.Ile1242=)
c.4473A>T (p.Ile1491=)
 dbSNP
16g.3736731T>CCA394563699CREBBPc.4479A>G (p.Ile1493Met)
c.4365A>G (p.Ile1455Met)
c.3114A>G (p.Ile1038Met)
n.269A>G
n.300A>G
n.3302A>G
c.4434A>G (p.Ile1478Met)
c.4062A>G (p.Ile1354Met)
c.4218A>G (p.Ile1406Met)
c.4425A>G (p.Ile1475Met)
c.3726A>G (p.Ile1242Met)
c.4473A>G (p.Ile1491Met)
 dbSNP
16g.3736731T>GCA493279380CREBBPc.4479A>C (p.Ile1493=)
c.4365A>C (p.Ile1455=)
c.3114A>C (p.Ile1038=)
n.269A>C
n.300A>C
n.3302A>C
c.4434A>C (p.Ile1478=)
c.4062A>C (p.Ile1354=)
c.4218A>C (p.Ile1406=)
c.4425A>C (p.Ile1475=)
c.3726A>C (p.Ile1242=)
c.4473A>C (p.Ile1491=)
 dbSNP gnomAD v4
16g.3736731T=CA2202936657CREBBPc.4479A= (p.Ile1493=)
c.4365A= (p.Ile1455=)
c.3114A= (p.Ile1038=)
n.269A=
n.300A=
n.3302A=
c.4434A= (p.Ile1478=)
c.4062A= (p.Ile1354=)
c.4218A= (p.Ile1406=)
c.4425A= (p.Ile1475=)
c.3726A= (p.Ile1242=)
c.4473A= (p.Ile1491=)
16g.3736731dupCA645575176CREBBPc.4479dup (p.Pro1494ThrfsTer25)
c.4365dup (p.Pro1456ThrfsTer25)
c.3114dup (p.Pro1039ThrfsTer25)
n.269dup
n.300dup
n.3302dup
c.4434dup (p.Pro1479ThrfsTer25)
c.4062dup (p.Pro1355ThrfsTer25)
c.4218dup (p.Pro1407ThrfsTer25)
c.4425dup (p.Pro1476ThrfsTer25)
c.3726dup (p.Pro1243ThrfsTer25)
c.4473dup (p.Pro1492ThrfsTer25)
 COSMIC
16g.3736732A>CCA394563707CREBBPc.4478T>G (p.Ile1493Arg)
c.4364T>G (p.Ile1455Arg)
c.3113T>G (p.Ile1038Arg)
n.268T>G
n.299T>G
n.3301T>G
c.4433T>G (p.Ile1478Arg)
c.4061T>G (p.Ile1354Arg)
c.4217T>G (p.Ile1406Arg)
c.4424T>G (p.Ile1475Arg)
c.3725T>G (p.Ile1242Arg)
c.4472T>G (p.Ile1491Arg)
16g.3736732A>GCA394563704CREBBPc.4478T>C (p.Ile1493Thr)
c.4364T>C (p.Ile1455Thr)
c.3113T>C (p.Ile1038Thr)
n.268T>C
n.299T>C
n.3301T>C
c.4433T>C (p.Ile1478Thr)
c.4061T>C (p.Ile1354Thr)
c.4217T>C (p.Ile1406Thr)
c.4424T>C (p.Ile1475Thr)
c.3725T>C (p.Ile1242Thr)
c.4472T>C (p.Ile1491Thr)
16g.3736732A>TCA394563702CREBBPc.4478T>A (p.Ile1493Lys)
c.4364T>A (p.Ile1455Lys)
c.3113T>A (p.Ile1038Lys)
n.268T>A
n.299T>A
n.3301T>A
c.4433T>A (p.Ile1478Lys)
c.4061T>A (p.Ile1354Lys)
c.4217T>A (p.Ile1406Lys)
c.4424T>A (p.Ile1475Lys)
c.3725T>A (p.Ile1242Lys)
c.4472T>A (p.Ile1491Lys)
 gnomAD v4 COSMIC
16g.3736733T>ACA394563710CREBBPc.4477A>T (p.Ile1493Leu)
c.4363A>T (p.Ile1455Leu)
c.3112A>T (p.Ile1038Leu)
n.267A>T
n.298A>T
n.3300A>T
c.4432A>T (p.Ile1478Leu)
c.4060A>T (p.Ile1354Leu)
c.4216A>T (p.Ile1406Leu)
c.4423A>T (p.Ile1475Leu)
c.3724A>T (p.Ile1242Leu)
c.4471A>T (p.Ile1491Leu)
16g.3736733T>CCA394563711CREBBPc.4477A>G (p.Ile1493Val)
c.4363A>G (p.Ile1455Val)
c.3112A>G (p.Ile1038Val)
n.267A>G
n.298A>G
n.3300A>G
c.4432A>G (p.Ile1478Val)
c.4060A>G (p.Ile1354Val)
c.4216A>G (p.Ile1406Val)
c.4423A>G (p.Ile1475Val)
c.3724A>G (p.Ile1242Val)
c.4471A>G (p.Ile1491Val)
16g.3736733T>GCA394563714CREBBPc.4477A>C (p.Ile1493Leu)
c.4363A>C (p.Ile1455Leu)
c.3112A>C (p.Ile1038Leu)
n.267A>C
n.298A>C
n.3300A>C
c.4432A>C (p.Ile1478Leu)
c.4060A>C (p.Ile1354Leu)
c.4216A>C (p.Ile1406Leu)
c.4423A>C (p.Ile1475Leu)
c.3724A>C (p.Ile1242Leu)
c.4471A>C (p.Ile1491Leu)
16g.3736738delCA493279389CREBBPc.4477del (p.Ile1493TyrfsTer?)
c.4363del (p.Ile1455TyrfsTer?)
c.3112del (p.Ile1038TyrfsTer?)
n.267del
n.298del
n.3300del
c.4432del (p.Ile1478TyrfsTer?)
c.4060del (p.Ile1354TyrfsTer?)
c.4216del (p.Ile1406TyrfsTer?)
c.4423del (p.Ile1475TyrfsTer?)
c.3724del (p.Ile1242TyrfsTer?)
c.4471del (p.Ile1491TyrfsTer?)
 COSMIC
16g.3736734T>ACA394563717CREBBPc.4476A>T (p.Lys1492Asn)
c.4362A>T (p.Lys1454Asn)
c.3111A>T (p.Lys1037Asn)
n.266A>T
n.297A>T
n.3299A>T
c.4431A>T (p.Lys1477Asn)
c.4059A>T (p.Lys1353Asn)
c.4215A>T (p.Lys1405Asn)
c.4422A>T (p.Lys1474Asn)
c.3723A>T (p.Lys1241Asn)
c.4470A>T (p.Lys1490Asn)
 dbSNP
16g.3736734T>CCA493279393CREBBPc.4476A>G (p.Lys1492=)
c.4362A>G (p.Lys1454=)
c.3111A>G (p.Lys1037=)
n.266A>G
n.297A>G
n.3299A>G
c.4431A>G (p.Lys1477=)
c.4059A>G (p.Lys1353=)
c.4215A>G (p.Lys1405=)
c.4422A>G (p.Lys1474=)
c.3723A>G (p.Lys1241=)
c.4470A>G (p.Lys1490=)
16g.3736734T>GCA394563719CREBBPc.4476A>C (p.Lys1492Asn)
c.4362A>C (p.Lys1454Asn)
c.3111A>C (p.Lys1037Asn)
n.266A>C
n.297A>C
n.3299A>C
c.4431A>C (p.Lys1477Asn)
c.4059A>C (p.Lys1353Asn)
c.4215A>C (p.Lys1405Asn)
c.4422A>C (p.Lys1474Asn)
c.3723A>C (p.Lys1241Asn)
c.4470A>C (p.Lys1490Asn)
16g.3736735T>ACA394563722CREBBPc.4475A>T (p.Lys1492Ile)
c.4361A>T (p.Lys1454Ile)
c.3110A>T (p.Lys1037Ile)
n.265A>T
n.296A>T
n.3298A>T
c.4430A>T (p.Lys1477Ile)
c.4058A>T (p.Lys1353Ile)
c.4214A>T (p.Lys1405Ile)
c.4421A>T (p.Lys1474Ile)
c.3722A>T (p.Lys1241Ile)
c.4469A>T (p.Lys1490Ile)
16g.3736735T>CCA394563724CREBBPc.4475A>G (p.Lys1492Arg)
c.4361A>G (p.Lys1454Arg)
c.3110A>G (p.Lys1037Arg)
n.265A>G
n.296A>G
n.3298A>G
c.4430A>G (p.Lys1477Arg)
c.4058A>G (p.Lys1353Arg)
c.4214A>G (p.Lys1405Arg)
c.4421A>G (p.Lys1474Arg)
c.3722A>G (p.Lys1241Arg)
c.4469A>G (p.Lys1490Arg)
16g.3736735T>GCA394563727CREBBPc.4475A>C (p.Lys1492Thr)
c.4361A>C (p.Lys1454Thr)
c.3110A>C (p.Lys1037Thr)
n.265A>C
n.296A>C
n.3298A>C
c.4430A>C (p.Lys1477Thr)
c.4058A>C (p.Lys1353Thr)
c.4214A>C (p.Lys1405Thr)
c.4421A>C (p.Lys1474Thr)
c.3722A>C (p.Lys1241Thr)
c.4469A>C (p.Lys1490Thr)
16g.3736736T>ACA394563729CREBBPc.4474A>T (p.Lys1492Ter)
c.4360A>T (p.Lys1454Ter)
c.3109A>T (p.Lys1037Ter)
n.264A>T
n.295A>T
n.3297A>T
c.4429A>T (p.Lys1477Ter)
c.4057A>T (p.Lys1353Ter)
c.4213A>T (p.Lys1405Ter)
c.4420A>T (p.Lys1474Ter)
c.3721A>T (p.Lys1241Ter)
c.4468A>T (p.Lys1490Ter)
 dbSNP
16g.3736736T>CCA394563731CREBBPc.4474A>G (p.Lys1492Glu)
c.4360A>G (p.Lys1454Glu)
c.3109A>G (p.Lys1037Glu)
n.264A>G
n.295A>G
n.3297A>G
c.4429A>G (p.Lys1477Glu)
c.4057A>G (p.Lys1353Glu)
c.4213A>G (p.Lys1405Glu)
c.4420A>G (p.Lys1474Glu)
c.3721A>G (p.Lys1241Glu)
c.4468A>G (p.Lys1490Glu)
16g.3736736T>GCA394563735CREBBPc.4474A>C (p.Lys1492Gln)
c.4360A>C (p.Lys1454Gln)
c.3109A>C (p.Lys1037Gln)
n.264A>C
n.295A>C
n.3297A>C
c.4429A>C (p.Lys1477Gln)
c.4057A>C (p.Lys1353Gln)
c.4213A>C (p.Lys1405Gln)
c.4420A>C (p.Lys1474Gln)
c.3721A>C (p.Lys1241Gln)
c.4468A>C (p.Lys1490Gln)
16g.3736737T>ACA394563736CREBBPc.4473A>T (p.Gln1491His)
c.4359A>T (p.Gln1453His)
c.3108A>T (p.Gln1036His)
n.263A>T
n.294A>T
n.3296A>T
c.4428A>T (p.Gln1476His)
c.4056A>T (p.Gln1352His)
c.4212A>T (p.Gln1404His)
c.4419A>T (p.Gln1473His)
c.3720A>T (p.Gln1240His)
c.4467A>T (p.Gln1489His)
 COSMIC
16g.3736737T>CCA493279407CREBBPc.4473A>G (p.Gln1491=)
c.4359A>G (p.Gln1453=)
c.3108A>G (p.Gln1036=)
n.263A>G
n.294A>G
n.3296A>G
c.4428A>G (p.Gln1476=)
c.4056A>G (p.Gln1352=)
c.4212A>G (p.Gln1404=)
c.4419A>G (p.Gln1473=)
c.3720A>G (p.Gln1240=)
c.4467A>G (p.Gln1489=)
 dbSNP
16g.3736737T>GCA394563743CREBBPc.4473A>C (p.Gln1491His)
c.4359A>C (p.Gln1453His)
c.3108A>C (p.Gln1036His)
n.263A>C
n.294A>C
n.3296A>C
c.4428A>C (p.Gln1476His)
c.4056A>C (p.Gln1352His)
c.4212A>C (p.Gln1404His)
c.4419A>C (p.Gln1473His)
c.3720A>C (p.Gln1240His)
c.4467A>C (p.Gln1489His)
16g.3736737_3736739delCA645575177CREBBPc.4471_4473del (p.Gln1491del)
c.4357_4359del (p.Gln1453del)
c.3106_3108del (p.Gln1036del)
n.261_263del
n.292_294del
n.3294_3296del
c.4426_4428del (p.Gln1476del)
c.4054_4056del (p.Gln1352del)
c.4210_4212del (p.Gln1404del)
c.4417_4419del (p.Gln1473del)
c.3718_3720del (p.Gln1240del)
c.4465_4467del (p.Gln1489del)
 COSMIC
16g.3736738T>ACA394563746CREBBPc.4472A>T (p.Gln1491Leu)
c.4358A>T (p.Gln1453Leu)
c.3107A>T (p.Gln1036Leu)
n.262A>T
n.293A>T
n.3295A>T
c.4427A>T (p.Gln1476Leu)
c.4055A>T (p.Gln1352Leu)
c.4211A>T (p.Gln1404Leu)
c.4418A>T (p.Gln1473Leu)
c.3719A>T (p.Gln1240Leu)
c.4466A>T (p.Gln1489Leu)
 dbSNP
16g.3736738T>CCA394563752CREBBPc.4472A>G (p.Gln1491Arg)
c.4358A>G (p.Gln1453Arg)
c.3107A>G (p.Gln1036Arg)
n.262A>G
n.293A>G
n.3295A>G
c.4427A>G (p.Gln1476Arg)
c.4055A>G (p.Gln1352Arg)
c.4211A>G (p.Gln1404Arg)
c.4418A>G (p.Gln1473Arg)
c.3719A>G (p.Gln1240Arg)
c.4466A>G (p.Gln1489Arg)
16g.3736738T>GCA394563749CREBBPc.4472A>C (p.Gln1491Pro)
c.4358A>C (p.Gln1453Pro)
c.3107A>C (p.Gln1036Pro)
n.262A>C
n.293A>C
n.3295A>C
c.4427A>C (p.Gln1476Pro)
c.4055A>C (p.Gln1352Pro)
c.4211A>C (p.Gln1404Pro)
c.4418A>C (p.Gln1473Pro)
c.3719A>C (p.Gln1240Pro)
c.4466A>C (p.Gln1489Pro)
16g.3736739G>ACA394563756CREBBPc.4471C>T (p.Gln1491Ter)
c.4357C>T (p.Gln1453Ter)
c.3106C>T (p.Gln1036Ter)
n.261C>T
n.292C>T
n.3294C>T
c.4426C>T (p.Gln1476Ter)
c.4054C>T (p.Gln1352Ter)
c.4210C>T (p.Gln1404Ter)
c.4417C>T (p.Gln1473Ter)
c.3718C>T (p.Gln1240Ter)
c.4465C>T (p.Gln1489Ter)
 ClinVar dbSNP
16g.3736739G>CCA394563759CREBBPc.4471C>G (p.Gln1491Glu)
c.4357C>G (p.Gln1453Glu)
c.3106C>G (p.Gln1036Glu)
n.261C>G
n.292C>G
n.3294C>G
c.4426C>G (p.Gln1476Glu)
c.4054C>G (p.Gln1352Glu)
c.4210C>G (p.Gln1404Glu)
c.4417C>G (p.Gln1473Glu)
c.3718C>G (p.Gln1240Glu)
c.4465C>G (p.Gln1489Glu)
 dbSNP COSMIC
16g.3736739G=CA2202936661CREBBPc.4471C= (p.Gln1491=)
c.4357C= (p.Gln1453=)
c.3106C= (p.Gln1036=)
n.261C=
n.292C=
n.3294C=
c.4426C= (p.Gln1476=)
c.4054C= (p.Gln1352=)
c.4210C= (p.Gln1404=)
c.4417C= (p.Gln1473=)
c.3718C= (p.Gln1240=)
c.4465C= (p.Gln1489=)
16g.3736739G>TCA276980080CREBBPc.4471C>A (p.Gln1491Lys)
c.4357C>A (p.Gln1453Lys)
c.3106C>A (p.Gln1036Lys)
n.261C>A
n.292C>A
n.3294C>A
c.4426C>A (p.Gln1476Lys)
c.4054C>A (p.Gln1352Lys)
c.4210C>A (p.Gln1404Lys)
c.4417C>A (p.Gln1473Lys)
c.3718C>A (p.Gln1240Lys)
c.4465C>A (p.Gln1489Lys)
 dbSNP gnomAD v4
16g.3736740A>CCA394563764CREBBPc.4470T>G (p.Asp1490Glu)
c.4356T>G (p.Asp1452Glu)
c.3105T>G (p.Asp1035Glu)
n.260T>G
n.291T>G
n.3293T>G
c.4425T>G (p.Asp1475Glu)
c.4053T>G (p.Asp1351Glu)
c.4209T>G (p.Asp1403Glu)
c.4416T>G (p.Asp1472Glu)
c.3717T>G (p.Asp1239Glu)
c.4464T>G (p.Asp1488Glu)
16g.3736740A>GCA493279416CREBBPc.4470T>C (p.Asp1490=)
c.4356T>C (p.Asp1452=)
c.3105T>C (p.Asp1035=)
n.260T>C
n.291T>C
n.3293T>C
c.4425T>C (p.Asp1475=)
c.4053T>C (p.Asp1351=)
c.4209T>C (p.Asp1403=)
c.4416T>C (p.Asp1472=)
c.3717T>C (p.Asp1239=)
c.4464T>C (p.Asp1488=)
 dbSNP
16g.3736740A>TCA394563767CREBBPc.4470T>A (p.Asp1490Glu)
c.4356T>A (p.Asp1452Glu)
c.3105T>A (p.Asp1035Glu)
n.260T>A
n.291T>A
n.3293T>A
c.4425T>A (p.Asp1475Glu)
c.4053T>A (p.Asp1351Glu)
c.4209T>A (p.Asp1403Glu)
c.4416T>A (p.Asp1472Glu)
c.3717T>A (p.Asp1239Glu)
c.4464T>A (p.Asp1488Glu)
 dbSNP gnomAD v4
16g.3736741T>ACA394563771CREBBPc.4469A>T (p.Asp1490Val)
c.4355A>T (p.Asp1452Val)
c.3104A>T (p.Asp1035Val)
n.259A>T
n.290A>T
n.3292A>T
c.4424A>T (p.Asp1475Val)
c.4052A>T (p.Asp1351Val)
c.4208A>T (p.Asp1403Val)
c.4415A>T (p.Asp1472Val)
c.3716A>T (p.Asp1239Val)
c.4463A>T (p.Asp1488Val)
16g.3736741T>CCA394563773CREBBPc.4469A>G (p.Asp1490Gly)
c.4355A>G (p.Asp1452Gly)
c.3104A>G (p.Asp1035Gly)
n.259A>G
n.290A>G
n.3292A>G
c.4424A>G (p.Asp1475Gly)
c.4052A>G (p.Asp1351Gly)
c.4208A>G (p.Asp1403Gly)
c.4415A>G (p.Asp1472Gly)
c.3716A>G (p.Asp1239Gly)
c.4463A>G (p.Asp1488Gly)
16g.3736741T>GCA394563776CREBBPc.4469A>C (p.Asp1490Ala)
c.4355A>C (p.Asp1452Ala)
c.3104A>C (p.Asp1035Ala)
n.259A>C
n.290A>C
n.3292A>C
c.4424A>C (p.Asp1475Ala)
c.4052A>C (p.Asp1351Ala)
c.4208A>C (p.Asp1403Ala)
c.4415A>C (p.Asp1472Ala)
c.3716A>C (p.Asp1239Ala)
c.4463A>C (p.Asp1488Ala)
16g.3736742C>ACA394563779CREBBPc.4468G>T (p.Asp1490Tyr)
c.4354G>T (p.Asp1452Tyr)
c.3103G>T (p.Asp1035Tyr)
n.258G>T
n.289G>T
n.3291G>T
c.4423G>T (p.Asp1475Tyr)
c.4051G>T (p.Asp1351Tyr)
c.4207G>T (p.Asp1403Tyr)
c.4414G>T (p.Asp1472Tyr)
c.3715G>T (p.Asp1239Tyr)
c.4462G>T (p.Asp1488Tyr)
 dbSNP gnomAD v4
16g.3736742C>GCA394563782CREBBPc.4468G>C (p.Asp1490His)
c.4354G>C (p.Asp1452His)
c.3103G>C (p.Asp1035His)
n.258G>C
n.289G>C
n.3291G>C
c.4423G>C (p.Asp1475His)
c.4051G>C (p.Asp1351His)
c.4207G>C (p.Asp1403His)
c.4414G>C (p.Asp1472His)
c.3715G>C (p.Asp1239His)
c.4462G>C (p.Asp1488His)
 dbSNP
16g.3736742C>TCA394563785CREBBPc.4468G>A (p.Asp1490Asn)
c.4354G>A (p.Asp1452Asn)
c.3103G>A (p.Asp1035Asn)
n.258G>A
n.289G>A
n.3291G>A
c.4423G>A (p.Asp1475Asn)
c.4051G>A (p.Asp1351Asn)
c.4207G>A (p.Asp1403Asn)
c.4414G>A (p.Asp1472Asn)
c.3715G>A (p.Asp1239Asn)
c.4462G>A (p.Asp1488Asn)
 dbSNP
16g.3736743A>CCA493279425CREBBPc.4467T>G (p.Pro1489=)
c.4353T>G (p.Pro1451=)
c.3102T>G (p.Pro1034=)
n.257T>G
n.288T>G
n.3290T>G
c.4422T>G (p.Pro1474=)
c.4050T>G (p.Pro1350=)
c.4206T>G (p.Pro1402=)
c.4413T>G (p.Pro1471=)
c.3714T>G (p.Pro1238=)
c.4461T>G (p.Pro1487=)
16g.3736743A>GCA493279427CREBBPc.4467T>C (p.Pro1489=)
c.4353T>C (p.Pro1451=)
c.3102T>C (p.Pro1034=)
n.257T>C
n.288T>C
n.3290T>C
c.4422T>C (p.Pro1474=)
c.4050T>C (p.Pro1350=)
c.4206T>C (p.Pro1402=)
c.4413T>C (p.Pro1471=)
c.3714T>C (p.Pro1238=)
c.4461T>C (p.Pro1487=)
 dbSNP
16g.3736743A>TCA493279428CREBBPc.4467T>A (p.Pro1489=)
c.4353T>A (p.Pro1451=)
c.3102T>A (p.Pro1034=)
n.257T>A
n.288T>A
n.3290T>A
c.4422T>A (p.Pro1474=)
c.4050T>A (p.Pro1350=)
c.4206T>A (p.Pro1402=)
c.4413T>A (p.Pro1471=)
c.3714T>A (p.Pro1238=)
c.4461T>A (p.Pro1487=)
 dbSNP
16g.3736744G>ACA394563791CREBBPc.4466C>T (p.Pro1489Leu)
c.4352C>T (p.Pro1451Leu)
c.3101C>T (p.Pro1034Leu)
n.256C>T
n.287C>T
n.3289C>T
c.4421C>T (p.Pro1474Leu)
c.4049C>T (p.Pro1350Leu)
c.4205C>T (p.Pro1402Leu)
c.4412C>T (p.Pro1471Leu)
c.3713C>T (p.Pro1238Leu)
c.4460C>T (p.Pro1487Leu)
 dbSNP gnomAD v4
16g.3736744G>CCA394563794CREBBPc.4466C>G (p.Pro1489Arg)
c.4352C>G (p.Pro1451Arg)
c.3101C>G (p.Pro1034Arg)
n.256C>G
n.287C>G
n.3289C>G
c.4421C>G (p.Pro1474Arg)
c.4049C>G (p.Pro1350Arg)
c.4205C>G (p.Pro1402Arg)
c.4412C>G (p.Pro1471Arg)
c.3713C>G (p.Pro1238Arg)
c.4460C>G (p.Pro1487Arg)
 dbSNP
16g.3736744G>TCA394563788CREBBPc.4466C>A (p.Pro1489His)
c.4352C>A (p.Pro1451His)
c.3101C>A (p.Pro1034His)
n.256C>A
n.287C>A
n.3289C>A
c.4421C>A (p.Pro1474His)
c.4049C>A (p.Pro1350His)
c.4205C>A (p.Pro1402His)
c.4412C>A (p.Pro1471His)
c.3713C>A (p.Pro1238His)
c.4460C>A (p.Pro1487His)
 gnomAD v4
16g.3736745G>ACA394563798CREBBPc.4465C>T (p.Pro1489Ser)
c.4351C>T (p.Pro1451Ser)
c.3100C>T (p.Pro1034Ser)
n.255C>T
n.286C>T
n.3288C>T
c.4420C>T (p.Pro1474Ser)
c.4048C>T (p.Pro1350Ser)
c.4204C>T (p.Pro1402Ser)
c.4411C>T (p.Pro1471Ser)
c.3712C>T (p.Pro1238Ser)
c.4459C>T (p.Pro1487Ser)
 dbSNP gnomAD v4
16g.3736745G>CCA394563799CREBBPc.4465C>G (p.Pro1489Ala)
c.4351C>G (p.Pro1451Ala)
c.3100C>G (p.Pro1034Ala)
n.255C>G
n.286C>G
n.3288C>G
c.4420C>G (p.Pro1474Ala)
c.4048C>G (p.Pro1350Ala)
c.4204C>G (p.Pro1402Ala)
c.4411C>G (p.Pro1471Ala)
c.3712C>G (p.Pro1238Ala)
c.4459C>G (p.Pro1487Ala)
 ClinVar dbSNP
16g.3736745G=CA2202936664CREBBPc.4465C= (p.Pro1489=)
c.4351C= (p.Pro1451=)
c.3100C= (p.Pro1034=)
n.255C=
n.286C=
n.3288C=
c.4420C= (p.Pro1474=)
c.4048C= (p.Pro1350=)
c.4204C= (p.Pro1402=)
c.4411C= (p.Pro1471=)
c.3712C= (p.Pro1238=)
c.4459C= (p.Pro1487=)
16g.3736745G>TCA394563801CREBBPc.4465C>A (p.Pro1489Thr)
c.4351C>A (p.Pro1451Thr)
c.3100C>A (p.Pro1034Thr)
n.255C>A
n.286C>A
n.3288C>A
c.4420C>A (p.Pro1474Thr)
c.4048C>A (p.Pro1350Thr)
c.4204C>A (p.Pro1402Thr)
c.4411C>A (p.Pro1471Thr)
c.3712C>A (p.Pro1238Thr)
c.4459C>A (p.Pro1487Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.3736746T>ACA493279437CREBBPc.4464A>T (p.Pro1488=)
c.4350A>T (p.Pro1450=)
c.3099A>T (p.Pro1033=)
n.254A>T
n.285A>T
n.3287A>T
c.4419A>T (p.Pro1473=)
c.4047A>T (p.Pro1349=)
c.4203A>T (p.Pro1401=)
c.4410A>T (p.Pro1470=)
c.3711A>T (p.Pro1237=)
c.4458A>T (p.Pro1486=)
16g.3736746T>CCA7869515CREBBPc.4464A>G (p.Pro1488=)
c.4350A>G (p.Pro1450=)
c.3099A>G (p.Pro1033=)
n.254A>G
n.285A>G
n.3287A>G
c.4419A>G (p.Pro1473=)
c.4047A>G (p.Pro1349=)
c.4203A>G (p.Pro1401=)
c.4410A>G (p.Pro1470=)
c.3711A>G (p.Pro1237=)
c.4458A>G (p.Pro1486=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3736746T>GCA493279439CREBBPc.4464A>C (p.Pro1488=)
c.4350A>C (p.Pro1450=)
c.3099A>C (p.Pro1033=)
n.254A>C
n.285A>C
n.3287A>C
c.4419A>C (p.Pro1473=)
c.4047A>C (p.Pro1349=)
c.4203A>C (p.Pro1401=)
c.4410A>C (p.Pro1470=)
c.3711A>C (p.Pro1237=)
c.4458A>C (p.Pro1486=)
16g.3736746T=CA2202936671CREBBPc.4464A= (p.Pro1488=)
c.4350A= (p.Pro1450=)
c.3099A= (p.Pro1033=)
n.254A=
n.285A=
n.3287A=
c.4419A= (p.Pro1473=)
c.4047A= (p.Pro1349=)
c.4203A= (p.Pro1401=)
c.4410A= (p.Pro1470=)
c.3711A= (p.Pro1237=)
c.4458A= (p.Pro1486=)
16g.3736747G>ACA394563806CREBBPc.4463C>T (p.Pro1488Leu)
c.4349C>T (p.Pro1450Leu)
c.3098C>T (p.Pro1033Leu)
n.253C>T
n.284C>T
n.3286C>T
c.4418C>T (p.Pro1473Leu)
c.4046C>T (p.Pro1349Leu)
c.4202C>T (p.Pro1401Leu)
c.4409C>T (p.Pro1470Leu)
c.3710C>T (p.Pro1237Leu)
c.4457C>T (p.Pro1486Leu)
 dbSNP COSMIC
16g.3736747G>CCA394563808CREBBPc.4463C>G (p.Pro1488Arg)
c.4349C>G (p.Pro1450Arg)
c.3098C>G (p.Pro1033Arg)
n.253C>G
n.284C>G
n.3286C>G
c.4418C>G (p.Pro1473Arg)
c.4046C>G (p.Pro1349Arg)
c.4202C>G (p.Pro1401Arg)
c.4409C>G (p.Pro1470Arg)
c.3710C>G (p.Pro1237Arg)
c.4457C>G (p.Pro1486Arg)
 dbSNP COSMIC
16g.3736747G>TCA394563811CREBBPc.4463C>A (p.Pro1488Gln)
c.4349C>A (p.Pro1450Gln)
c.3098C>A (p.Pro1033Gln)
n.253C>A
n.284C>A
n.3286C>A
c.4418C>A (p.Pro1473Gln)
c.4046C>A (p.Pro1349Gln)
c.4202C>A (p.Pro1401Gln)
c.4409C>A (p.Pro1470Gln)
c.3710C>A (p.Pro1237Gln)
c.4457C>A (p.Pro1486Gln)
 COSMIC
16g.3736748G>ACA394563815CREBBPc.4462C>T (p.Pro1488Ser)
c.4348C>T (p.Pro1450Ser)
c.3097C>T (p.Pro1033Ser)
n.252C>T
n.283C>T
n.3285C>T
c.4417C>T (p.Pro1473Ser)
c.4045C>T (p.Pro1349Ser)
c.4201C>T (p.Pro1401Ser)
c.4408C>T (p.Pro1470Ser)
c.3709C>T (p.Pro1237Ser)
c.4456C>T (p.Pro1486Ser)
 dbSNP
16g.3736748G>CCA394563817CREBBPc.4462C>G (p.Pro1488Ala)
c.4348C>G (p.Pro1450Ala)
c.3097C>G (p.Pro1033Ala)
n.252C>G
n.283C>G
n.3285C>G
c.4417C>G (p.Pro1473Ala)
c.4045C>G (p.Pro1349Ala)
c.4201C>G (p.Pro1401Ala)
c.4408C>G (p.Pro1470Ala)
c.3709C>G (p.Pro1237Ala)
c.4456C>G (p.Pro1486Ala)
 dbSNP
16g.3736748G>TCA394563820CREBBPc.4462C>A (p.Pro1488Thr)
c.4348C>A (p.Pro1450Thr)
c.3097C>A (p.Pro1033Thr)
n.252C>A
n.283C>A
n.3285C>A
c.4417C>A (p.Pro1473Thr)
c.4045C>A (p.Pro1349Thr)
c.4201C>A (p.Pro1401Thr)
c.4408C>A (p.Pro1470Thr)
c.3709C>A (p.Pro1237Thr)
c.4456C>A (p.Pro1486Thr)
 dbSNP
16g.3736749G>ACA493279448CREBBPc.4461C>T (p.His1487=)
c.4347C>T (p.His1449=)
c.3096C>T (p.His1032=)
n.251C>T
n.282C>T
n.3284C>T
c.4416C>T (p.His1472=)
c.4044C>T (p.His1348=)
c.4200C>T (p.His1400=)
c.4407C>T (p.His1469=)
c.3708C>T (p.His1236=)
c.4455C>T (p.His1485=)
 dbSNP gnomAD v4
16g.3736749G>CCA394563822CREBBPc.4461C>G (p.His1487Gln)
c.4347C>G (p.His1449Gln)
c.3096C>G (p.His1032Gln)
n.251C>G
n.282C>G
n.3284C>G
c.4416C>G (p.His1472Gln)
c.4044C>G (p.His1348Gln)
c.4200C>G (p.His1400Gln)
c.4407C>G (p.His1469Gln)
c.3708C>G (p.His1236Gln)
c.4455C>G (p.His1485Gln)
 dbSNP
16g.3736749G=CA2202936675CREBBPc.4461C= (p.His1487=)
c.4347C= (p.His1449=)
c.3096C= (p.His1032=)
n.251C=
n.282C=
n.3284C=
c.4416C= (p.His1472=)
c.4044C= (p.His1348=)
c.4200C= (p.His1400=)
c.4407C= (p.His1469=)
c.3708C= (p.His1236=)
c.4455C= (p.His1485=)
16g.3736749G>TCA394563823CREBBPc.4461C>A (p.His1487Gln)
c.4347C>A (p.His1449Gln)
c.3096C>A (p.His1032Gln)
n.251C>A
n.282C>A
n.3284C>A
c.4416C>A (p.His1472Gln)
c.4044C>A (p.His1348Gln)
c.4200C>A (p.His1400Gln)
c.4407C>A (p.His1469Gln)
c.3708C>A (p.His1236Gln)
c.4455C>A (p.His1485Gln)
16g.3736750T>ACA394563831CREBBPc.4460A>T (p.His1487Leu)
c.4346A>T (p.His1449Leu)
c.3095A>T (p.His1032Leu)
n.250A>T
n.281A>T
n.3283A>T
c.4415A>T (p.His1472Leu)
c.4043A>T (p.His1348Leu)
c.4199A>T (p.His1400Leu)
c.4406A>T (p.His1469Leu)
c.3707A>T (p.His1236Leu)
c.4454A>T (p.His1485Leu)
16g.3736750T>CCA394563830CREBBPc.4460A>G (p.His1487Arg)
c.4346A>G (p.His1449Arg)
c.3095A>G (p.His1032Arg)
n.250A>G
n.281A>G
n.3283A>G
c.4415A>G (p.His1472Arg)
c.4043A>G (p.His1348Arg)
c.4199A>G (p.His1400Arg)
c.4406A>G (p.His1469Arg)
c.3707A>G (p.His1236Arg)
c.4454A>G (p.His1485Arg)
 ClinVar dbSNP
16g.3736750T>GCA394563826CREBBPc.4460A>C (p.His1487Pro)
c.4346A>C (p.His1449Pro)
c.3095A>C (p.His1032Pro)
n.250A>C
n.281A>C
n.3283A>C
c.4415A>C (p.His1472Pro)
c.4043A>C (p.His1348Pro)
c.4199A>C (p.His1400Pro)
c.4406A>C (p.His1469Pro)
c.3707A>C (p.His1236Pro)
c.4454A>C (p.His1485Pro)
16g.3736750T=CA2202936678CREBBPc.4460A= (p.His1487=)
c.4346A= (p.His1449=)
c.3095A= (p.His1032=)
n.250A=
n.281A=
n.3283A=
c.4415A= (p.His1472=)
c.4043A= (p.His1348=)
c.4199A= (p.His1400=)
c.4406A= (p.His1469=)
c.3707A= (p.His1236=)
c.4454A= (p.His1485=)
16g.3736751G>ACA16043855CREBBPc.4459C>T (p.His1487Tyr)
c.4345C>T (p.His1449Tyr)
c.3094C>T (p.His1032Tyr)
n.249C>T
n.280C>T
n.3282C>T
c.4414C>T (p.His1472Tyr)
c.4042C>T (p.His1348Tyr)
c.4198C>T (p.His1400Tyr)
c.4405C>T (p.His1469Tyr)
c.3706C>T (p.His1236Tyr)
c.4453C>T (p.His1485Tyr)
 ClinVar dbSNP COSMIC
16g.3736751G>CCA394563844CREBBPc.4459C>G (p.His1487Asp)
c.4345C>G (p.His1449Asp)
c.3094C>G (p.His1032Asp)
n.249C>G
n.280C>G
n.3282C>G
c.4414C>G (p.His1472Asp)
c.4042C>G (p.His1348Asp)
c.4198C>G (p.His1400Asp)
c.4405C>G (p.His1469Asp)
c.3706C>G (p.His1236Asp)
c.4453C>G (p.His1485Asp)
16g.3736751G=CA2202936681CREBBPc.4459C= (p.His1487=)
c.4345C= (p.His1449=)
c.3094C= (p.His1032=)
n.249C=
n.280C=
n.3282C=
c.4414C= (p.His1472=)
c.4042C= (p.His1348=)
c.4198C= (p.His1400=)
c.4405C= (p.His1469=)
c.3706C= (p.His1236=)
c.4453C= (p.His1485=)
16g.3736751G>TCA394563847CREBBPc.4459C>A (p.His1487Asn)
c.4345C>A (p.His1449Asn)
c.3094C>A (p.His1032Asn)
n.249C>A
n.280C>A
n.3282C>A
c.4414C>A (p.His1472Asn)
c.4042C>A (p.His1348Asn)
c.4198C>A (p.His1400Asn)
c.4405C>A (p.His1469Asn)
c.3706C>A (p.His1236Asn)
c.4453C>A (p.His1485Asn)
 dbSNP COSMIC
16g.3736751_3736752insACA915949072CREBBPc.4458_4459insT (p.His1487SerfsTer4)
c.4344_4345insT (p.His1449SerfsTer4)
c.3093_3094insT (p.His1032SerfsTer4)
n.248_249insT
n.279_280insT
n.3281_3282insT
c.4413_4414insT (p.His1472SerfsTer4)
c.4041_4042insT (p.His1348SerfsTer4)
c.4197_4198insT (p.His1400SerfsTer4)
c.4404_4405insT (p.His1469SerfsTer4)
c.3705_3706insT (p.His1236SerfsTer4)
c.4452_4453insT (p.His1485SerfsTer4)
 ClinVar dbSNP
16g.3736752G>ACA276980085CREBBPc.4458C>T (p.Cys1486=)
c.4344C>T (p.Cys1448=)
c.3093C>T (p.Cys1031=)
n.248C>T
n.279C>T
n.3281C>T
c.4413C>T (p.Cys1471=)
c.4041C>T (p.Cys1347=)
c.4197C>T (p.Cys1399=)
c.4404C>T (p.Cys1468=)
c.3705C>T (p.Cys1235=)
c.4452C>T (p.Cys1484=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.3736752G>CCA394563852CREBBPc.4458C>G (p.Cys1486Trp)
c.4344C>G (p.Cys1448Trp)
c.3093C>G (p.Cys1031Trp)
n.248C>G
n.279C>G
n.3281C>G
c.4413C>G (p.Cys1471Trp)
c.4041C>G (p.Cys1347Trp)
c.4197C>G (p.Cys1399Trp)
c.4404C>G (p.Cys1468Trp)
c.3705C>G (p.Cys1235Trp)
c.4452C>G (p.Cys1484Trp)
16g.3736752G=CA2202936683CREBBPc.4458C= (p.Cys1486=)
c.4344C= (p.Cys1448=)
c.3093C= (p.Cys1031=)
n.248C=
n.279C=
n.3281C=
c.4413C= (p.Cys1471=)
c.4041C= (p.Cys1347=)
c.4197C= (p.Cys1399=)
c.4404C= (p.Cys1468=)
c.3705C= (p.Cys1235=)
c.4452C= (p.Cys1484=)
16g.3736752G>TCA394563854CREBBPc.4458C>A (p.Cys1486Ter)
c.4344C>A (p.Cys1448Ter)
c.3093C>A (p.Cys1031Ter)
n.248C>A
n.279C>A
n.3281C>A
c.4413C>A (p.Cys1471Ter)
c.4041C>A (p.Cys1347Ter)
c.4197C>A (p.Cys1399Ter)
c.4404C>A (p.Cys1468Ter)
c.3705C>A (p.Cys1235Ter)
c.4452C>A (p.Cys1484Ter)
16g.3736752_3736753delCA2697549650CREBBPc.4457_4458del (p.Cys1486SerfsTer4)
c.4343_4344del (p.Cys1448SerfsTer4)
c.3092_3093del (p.Cys1031SerfsTer4)
n.247_248del
n.278_279del
n.3280_3281del
c.4412_4413del (p.Cys1471SerfsTer4)
c.4040_4041del (p.Cys1347SerfsTer4)
c.4196_4197del (p.Cys1399SerfsTer4)
c.4403_4404del (p.Cys1468SerfsTer4)
c.3704_3705del (p.Cys1235SerfsTer4)
c.4451_4452del (p.Cys1484SerfsTer4)
 ClinVar
16g.3736753C>ACA394563856CREBBPc.4457G>T (p.Cys1486Phe)
c.4343G>T (p.Cys1448Phe)
c.3092G>T (p.Cys1031Phe)
n.247G>T
n.278G>T
n.3280G>T
c.4412G>T (p.Cys1471Phe)
c.4040G>T (p.Cys1347Phe)
c.4196G>T (p.Cys1399Phe)
c.4403G>T (p.Cys1468Phe)
c.3704G>T (p.Cys1235Phe)
c.4451G>T (p.Cys1484Phe)
16g.3736753C>GCA394563857CREBBPc.4457G>C (p.Cys1486Ser)
c.4343G>C (p.Cys1448Ser)
c.3092G>C (p.Cys1031Ser)
n.247G>C
n.278G>C
n.3280G>C
c.4412G>C (p.Cys1471Ser)
c.4040G>C (p.Cys1347Ser)
c.4196G>C (p.Cys1399Ser)
c.4403G>C (p.Cys1468Ser)
c.3704G>C (p.Cys1235Ser)
c.4451G>C (p.Cys1484Ser)
16g.3736753C>TCA394563860CREBBPc.4457G>A (p.Cys1486Tyr)
c.4343G>A (p.Cys1448Tyr)
c.3092G>A (p.Cys1031Tyr)
n.247G>A
n.278G>A
n.3280G>A
c.4412G>A (p.Cys1471Tyr)
c.4040G>A (p.Cys1347Tyr)
c.4196G>A (p.Cys1399Tyr)
c.4403G>A (p.Cys1468Tyr)
c.3704G>A (p.Cys1235Tyr)
c.4451G>A (p.Cys1484Tyr)
 dbSNP
16g.3736754A>CCA394563862CREBBPc.4456T>G (p.Cys1486Gly)
c.4342T>G (p.Cys1448Gly)
c.3091T>G (p.Cys1031Gly)
n.246T>G
n.277T>G
n.3279T>G
c.4411T>G (p.Cys1471Gly)
c.4039T>G (p.Cys1347Gly)
c.4195T>G (p.Cys1399Gly)
c.4402T>G (p.Cys1468Gly)
c.3703T>G (p.Cys1235Gly)
c.4450T>G (p.Cys1484Gly)
16g.3736754A>GCA394563864CREBBPc.4456T>C (p.Cys1486Arg)
c.4342T>C (p.Cys1448Arg)
c.3091T>C (p.Cys1031Arg)
n.246T>C
n.277T>C
n.3279T>C
c.4411T>C (p.Cys1471Arg)
c.4039T>C (p.Cys1347Arg)
c.4195T>C (p.Cys1399Arg)
c.4402T>C (p.Cys1468Arg)
c.3703T>C (p.Cys1235Arg)
c.4450T>C (p.Cys1484Arg)
 dbSNP
16g.3736754A>TCA394563866CREBBPc.4456T>A (p.Cys1486Ser)
c.4342T>A (p.Cys1448Ser)
c.3091T>A (p.Cys1031Ser)
n.246T>A
n.277T>A
n.3279T>A
c.4411T>A (p.Cys1471Ser)
c.4039T>A (p.Cys1347Ser)
c.4195T>A (p.Cys1399Ser)
c.4402T>A (p.Cys1468Ser)
c.3703T>A (p.Cys1235Ser)
c.4450T>A (p.Cys1484Ser)
 dbSNP
16g.3736755A>CCA394563868CREBBPc.4455T>G (p.His1485Gln)
c.4341T>G (p.His1447Gln)
c.3090T>G (p.His1030Gln)
n.245T>G
n.276T>G
n.3278T>G
c.4410T>G (p.His1470Gln)
c.4038T>G (p.His1346Gln)
c.4194T>G (p.His1398Gln)
c.4401T>G (p.His1467Gln)
c.3702T>G (p.His1234Gln)
c.4449T>G (p.His1483Gln)
16g.3736755A>GCA493279470CREBBPc.4455T>C (p.His1485=)
c.4341T>C (p.His1447=)
c.3090T>C (p.His1030=)
n.245T>C
n.276T>C
n.3278T>C
c.4410T>C (p.His1470=)
c.4038T>C (p.His1346=)
c.4194T>C (p.His1398=)
c.4401T>C (p.His1467=)
c.3702T>C (p.His1234=)
c.4449T>C (p.His1483=)
 COSMIC
16g.3736755A>TCA394563869CREBBPc.4455T>A (p.His1485Gln)
c.4341T>A (p.His1447Gln)
c.3090T>A (p.His1030Gln)
n.245T>A
n.276T>A
n.3278T>A
c.4410T>A (p.His1470Gln)
c.4038T>A (p.His1346Gln)
c.4194T>A (p.His1398Gln)
c.4401T>A (p.His1467Gln)
c.3702T>A (p.His1234Gln)
c.4449T>A (p.His1483Gln)
 dbSNP
16g.3736756T>ACA394563871CREBBPc.4454A>T (p.His1485Leu)
c.4340A>T (p.His1447Leu)
c.3089A>T (p.His1030Leu)
n.244A>T
n.275A>T
n.3277A>T
c.4409A>T (p.His1470Leu)
c.4037A>T (p.His1346Leu)
c.4193A>T (p.His1398Leu)
c.4400A>T (p.His1467Leu)
c.3701A>T (p.His1234Leu)
c.4448A>T (p.His1483Leu)
16g.3736756T>CCA394563873CREBBPc.4454A>G (p.His1485Arg)
c.4340A>G (p.His1447Arg)
c.3089A>G (p.His1030Arg)
n.244A>G
n.275A>G
n.3277A>G
c.4409A>G (p.His1470Arg)
c.4037A>G (p.His1346Arg)
c.4193A>G (p.His1398Arg)
c.4400A>G (p.His1467Arg)
c.3701A>G (p.His1234Arg)
c.4448A>G (p.His1483Arg)
16g.3736756T>GCA394563870CREBBPc.4454A>C (p.His1485Pro)
c.4340A>C (p.His1447Pro)
c.3089A>C (p.His1030Pro)
n.244A>C
n.275A>C
n.3277A>C
c.4409A>C (p.His1470Pro)
c.4037A>C (p.His1346Pro)
c.4193A>C (p.His1398Pro)
c.4400A>C (p.His1467Pro)
c.3701A>C (p.His1234Pro)
c.4448A>C (p.His1483Pro)
16g.3736757G>ACA394563876CREBBPc.4453C>T (p.His1485Tyr)
c.4339C>T (p.His1447Tyr)
c.3088C>T (p.His1030Tyr)
n.243C>T
n.274C>T
n.3276C>T
c.4408C>T (p.His1470Tyr)
c.4036C>T (p.His1346Tyr)
c.4192C>T (p.His1398Tyr)
c.4399C>T (p.His1467Tyr)
c.3700C>T (p.His1234Tyr)
c.4447C>T (p.His1483Tyr)
16g.3736757G>CCA394563878CREBBPc.4453C>G (p.His1485Asp)
c.4339C>G (p.His1447Asp)
c.3088C>G (p.His1030Asp)
n.243C>G
n.274C>G
n.3276C>G
c.4408C>G (p.His1470Asp)
c.4036C>G (p.His1346Asp)
c.4192C>G (p.His1398Asp)
c.4399C>G (p.His1467Asp)
c.3700C>G (p.His1234Asp)
c.4447C>G (p.His1483Asp)
16g.3736757G>TCA394563880CREBBPc.4453C>A (p.His1485Asn)
c.4339C>A (p.His1447Asn)
c.3088C>A (p.His1030Asn)
n.243C>A
n.274C>A
n.3276C>A
c.4408C>A (p.His1470Asn)
c.4036C>A (p.His1346Asn)
c.4192C>A (p.His1398Asn)
c.4399C>A (p.His1467Asn)
c.3700C>A (p.His1234Asn)
c.4447C>A (p.His1483Asn)
 gnomAD v4
16g.3736758G>ACA7869516CREBBPc.4452C>T (p.Phe1484=)
c.4338C>T (p.Phe1446=)
c.3087C>T (p.Phe1029=)
n.242C>T
n.273C>T
n.3275C>T
c.4407C>T (p.Phe1469=)
c.4035C>T (p.Phe1345=)
c.4191C>T (p.Phe1397=)
c.4398C>T (p.Phe1466=)
c.3699C>T (p.Phe1233=)
c.4446C>T (p.Phe1482=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3736758G>CCA394563883CREBBPc.4452C>G (p.Phe1484Leu)
c.4338C>G (p.Phe1446Leu)
c.3087C>G (p.Phe1029Leu)
n.242C>G
n.273C>G
n.3275C>G
c.4407C>G (p.Phe1469Leu)
c.4035C>G (p.Phe1345Leu)
c.4191C>G (p.Phe1397Leu)
c.4398C>G (p.Phe1466Leu)
c.3699C>G (p.Phe1233Leu)
c.4446C>G (p.Phe1482Leu)
 dbSNP
16g.3736758G=CA2202936685CREBBPc.4452C= (p.Phe1484=)
c.4338C= (p.Phe1446=)
c.3087C= (p.Phe1029=)
n.242C=
n.273C=
n.3275C=
c.4407C= (p.Phe1469=)
c.4035C= (p.Phe1345=)
c.4191C= (p.Phe1397=)
c.4398C= (p.Phe1466=)
c.3699C= (p.Phe1233=)
c.4446C= (p.Phe1482=)
16g.3736758G>TCA394563885CREBBPc.4452C>A (p.Phe1484Leu)
c.4338C>A (p.Phe1446Leu)
c.3087C>A (p.Phe1029Leu)
n.242C>A
n.273C>A
n.3275C>A
c.4407C>A (p.Phe1469Leu)
c.4035C>A (p.Phe1345Leu)
c.4191C>A (p.Phe1397Leu)
c.4398C>A (p.Phe1466Leu)
c.3699C>A (p.Phe1233Leu)
c.4446C>A (p.Phe1482Leu)
 dbSNP
16g.3736759A>CCA394563887CREBBPc.4451T>G (p.Phe1484Cys)
c.4337T>G (p.Phe1446Cys)
c.3086T>G (p.Phe1029Cys)
n.241T>G
n.272T>G
n.3274T>G
c.4406T>G (p.Phe1469Cys)
c.4034T>G (p.Phe1345Cys)
c.4190T>G (p.Phe1397Cys)
c.4397T>G (p.Phe1466Cys)
c.3698T>G (p.Phe1233Cys)
c.4445T>G (p.Phe1482Cys)
 COSMIC
16g.3736759A>GCA394563889CREBBPc.4451T>C (p.Phe1484Ser)
c.4337T>C (p.Phe1446Ser)
c.3086T>C (p.Phe1029Ser)
n.241T>C
n.272T>C
n.3274T>C
c.4406T>C (p.Phe1469Ser)
c.4034T>C (p.Phe1345Ser)
c.4190T>C (p.Phe1397Ser)
c.4397T>C (p.Phe1466Ser)
c.3698T>C (p.Phe1233Ser)
c.4445T>C (p.Phe1482Ser)
16g.3736759A>TCA394563890CREBBPc.4451T>A (p.Phe1484Tyr)
c.4337T>A (p.Phe1446Tyr)
c.3086T>A (p.Phe1029Tyr)
n.241T>A
n.272T>A
n.3274T>A
c.4406T>A (p.Phe1469Tyr)
c.4034T>A (p.Phe1345Tyr)
c.4190T>A (p.Phe1397Tyr)
c.4397T>A (p.Phe1466Tyr)
c.3698T>A (p.Phe1233Tyr)
c.4445T>A (p.Phe1482Tyr)
16g.3736760A>CCA394563893CREBBPc.4450T>G (p.Phe1484Val)
c.4336T>G (p.Phe1446Val)
c.3085T>G (p.Phe1029Val)
n.240T>G
n.271T>G
n.3273T>G
c.4405T>G (p.Phe1469Val)
c.4033T>G (p.Phe1345Val)
c.4189T>G (p.Phe1397Val)
c.4396T>G (p.Phe1466Val)
c.3697T>G (p.Phe1233Val)
c.4444T>G (p.Phe1482Val)
 COSMIC
16g.3736760A>GCA394563894CREBBPc.4450T>C (p.Phe1484Leu)
c.4336T>C (p.Phe1446Leu)
c.3085T>C (p.Phe1029Leu)
n.240T>C
n.271T>C
n.3273T>C
c.4405T>C (p.Phe1469Leu)
c.4033T>C (p.Phe1345Leu)
c.4189T>C (p.Phe1397Leu)
c.4396T>C (p.Phe1466Leu)
c.3697T>C (p.Phe1233Leu)
c.4444T>C (p.Phe1482Leu)
16g.3736760A>TCA394563896CREBBPc.4450T>A (p.Phe1484Ile)
c.4336T>A (p.Phe1446Ile)
c.3085T>A (p.Phe1029Ile)
n.240T>A
n.271T>A
n.3273T>A
c.4405T>A (p.Phe1469Ile)
c.4033T>A (p.Phe1345Ile)
c.4189T>A (p.Phe1397Ile)
c.4396T>A (p.Phe1466Ile)
c.3697T>A (p.Phe1233Ile)
c.4444T>A (p.Phe1482Ile)
 dbSNP
16g.3736761G>ACA493279495CREBBPc.4449C>T (p.Ile1483=)
c.4335C>T (p.Ile1445=)
c.3084C>T (p.Ile1028=)
n.239C>T
n.270C>T
n.3272C>T
c.4404C>T (p.Ile1468=)
c.4032C>T (p.Ile1344=)
c.4188C>T (p.Ile1396=)
c.4395C>T (p.Ile1465=)
c.3696C>T (p.Ile1232=)
c.4443C>T (p.Ile1481=)
 dbSNP
16g.3736761G>CCA394563898CREBBPc.4449C>G (p.Ile1483Met)
c.4335C>G (p.Ile1445Met)
c.3084C>G (p.Ile1028Met)
n.239C>G
n.270C>G
n.3272C>G
c.4404C>G (p.Ile1468Met)
c.4032C>G (p.Ile1344Met)
c.4188C>G (p.Ile1396Met)
c.4395C>G (p.Ile1465Met)
c.3696C>G (p.Ile1232Met)
c.4443C>G (p.Ile1481Met)
 dbSNP
16g.3736761G=CA2202936686CREBBPc.4449C= (p.Ile1483=)
c.4335C= (p.Ile1445=)
c.3084C= (p.Ile1028=)
n.239C=
n.270C=
n.3272C=
c.4404C= (p.Ile1468=)
c.4032C= (p.Ile1344=)
c.4188C= (p.Ile1396=)
c.4395C= (p.Ile1465=)
c.3696C= (p.Ile1232=)
c.4443C= (p.Ile1481=)
16g.3736761G>TCA493279498CREBBPc.4449C>A (p.Ile1483=)
c.4335C>A (p.Ile1445=)
c.3084C>A (p.Ile1028=)
n.239C>A
n.270C>A
n.3272C>A
c.4404C>A (p.Ile1468=)
c.4032C>A (p.Ile1344=)
c.4188C>A (p.Ile1396=)
c.4395C>A (p.Ile1465=)
c.3696C>A (p.Ile1232=)
c.4443C>A (p.Ile1481=)
 dbSNP
16g.3736762A=CA2202936687CREBBPc.4448T= (p.Ile1483=)
c.4334T= (p.Ile1445=)
c.3083T= (p.Ile1028=)
n.238T=
n.269T=
n.3271T=
c.4403T= (p.Ile1468=)
c.4031T= (p.Ile1344=)
c.4187T= (p.Ile1396=)
c.4394T= (p.Ile1465=)
c.3695T= (p.Ile1232=)
c.4442T= (p.Ile1481=)
16g.3736762A>CCA394563902CREBBPc.4448T>G (p.Ile1483Ser)
c.4334T>G (p.Ile1445Ser)
c.3083T>G (p.Ile1028Ser)
n.238T>G
n.269T>G
n.3271T>G
c.4403T>G (p.Ile1468Ser)
c.4031T>G (p.Ile1344Ser)
c.4187T>G (p.Ile1396Ser)
c.4394T>G (p.Ile1465Ser)
c.3695T>G (p.Ile1232Ser)
c.4442T>G (p.Ile1481Ser)
 COSMIC
16g.3736762A>GCA276980092CREBBPc.4448T>C (p.Ile1483Thr)
c.4334T>C (p.Ile1445Thr)
c.3083T>C (p.Ile1028Thr)
n.238T>C
n.269T>C
n.3271T>C
c.4403T>C (p.Ile1468Thr)
c.4031T>C (p.Ile1344Thr)
c.4187T>C (p.Ile1396Thr)
c.4394T>C (p.Ile1465Thr)
c.3695T>C (p.Ile1232Thr)
c.4442T>C (p.Ile1481Thr)
 dbSNP COSMIC
16g.3736762A>TCA394563900CREBBPc.4448T>A (p.Ile1483Asn)
c.4334T>A (p.Ile1445Asn)
c.3083T>A (p.Ile1028Asn)
n.238T>A
n.269T>A
n.3271T>A
c.4403T>A (p.Ile1468Asn)
c.4031T>A (p.Ile1344Asn)
c.4187T>A (p.Ile1396Asn)
c.4394T>A (p.Ile1465Asn)
c.3695T>A (p.Ile1232Asn)
c.4442T>A (p.Ile1481Asn)
 dbSNP COSMIC
16g.3736763T>ACA394563904CREBBPc.4447A>T (p.Ile1483Phe)
c.4333A>T (p.Ile1445Phe)
c.3082A>T (p.Ile1028Phe)
n.237A>T
n.268A>T
n.3270A>T
c.4402A>T (p.Ile1468Phe)
c.4030A>T (p.Ile1344Phe)
c.4186A>T (p.Ile1396Phe)
c.4393A>T (p.Ile1465Phe)
c.3694A>T (p.Ile1232Phe)
c.4441A>T (p.Ile1481Phe)
 COSMIC
16g.3736763T>CCA394563905CREBBPc.4447A>G (p.Ile1483Val)
c.4333A>G (p.Ile1445Val)
c.3082A>G (p.Ile1028Val)
n.237A>G
n.268A>G
n.3270A>G
c.4402A>G (p.Ile1468Val)
c.4030A>G (p.Ile1344Val)
c.4186A>G (p.Ile1396Val)
c.4393A>G (p.Ile1465Val)
c.3694A>G (p.Ile1232Val)
c.4441A>G (p.Ile1481Val)
 dbSNP gnomAD v4
16g.3736763T>GCA394563908CREBBPc.4447A>C (p.Ile1483Leu)
c.4333A>C (p.Ile1445Leu)
c.3082A>C (p.Ile1028Leu)
n.237A>C
n.268A>C
n.3270A>C
c.4402A>C (p.Ile1468Leu)
c.4030A>C (p.Ile1344Leu)
c.4186A>C (p.Ile1396Leu)
c.4393A>C (p.Ile1465Leu)
c.3694A>C (p.Ile1232Leu)
c.4441A>C (p.Ile1481Leu)
16g.3736764G>ACA7869517CREBBPc.4446C>T (p.Tyr1482=)
c.4332C>T (p.Tyr1444=)
c.3081C>T (p.Tyr1027=)
n.236C>T
n.267C>T
n.3269C>T
c.4401C>T (p.Tyr1467=)
c.4029C>T (p.Tyr1343=)
c.4185C>T (p.Tyr1395=)
c.4392C>T (p.Tyr1464=)
c.3693C>T (p.Tyr1231=)
c.4440C>T (p.Tyr1480=)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.3736764G>CCA394563910CREBBPc.4446C>G (p.Tyr1482Ter)
c.4332C>G (p.Tyr1444Ter)
c.3081C>G (p.Tyr1027Ter)
n.236C>G
n.267C>G
n.3269C>G
c.4401C>G (p.Tyr1467Ter)
c.4029C>G (p.Tyr1343Ter)
c.4185C>G (p.Tyr1395Ter)
c.4392C>G (p.Tyr1464Ter)
c.3693C>G (p.Tyr1231Ter)
c.4440C>G (p.Tyr1480Ter)
 dbSNP
16g.3736764G=CA2202936689CREBBPc.4446C= (p.Tyr1482=)
c.4332C= (p.Tyr1444=)
c.3081C= (p.Tyr1027=)
n.236C=
n.267C=
n.3269C=
c.4401C= (p.Tyr1467=)
c.4029C= (p.Tyr1343=)
c.4185C= (p.Tyr1395=)
c.4392C= (p.Tyr1464=)
c.3693C= (p.Tyr1231=)
c.4440C= (p.Tyr1480=)
16g.3736764G>TCA394563913CREBBPc.4446C>A (p.Tyr1482Ter)
c.4332C>A (p.Tyr1444Ter)
c.3081C>A (p.Tyr1027Ter)
n.236C>A
n.267C>A
n.3269C>A
c.4401C>A (p.Tyr1467Ter)
c.4029C>A (p.Tyr1343Ter)
c.4185C>A (p.Tyr1395Ter)
c.4392C>A (p.Tyr1464Ter)
c.3693C>A (p.Tyr1231Ter)
c.4440C>A (p.Tyr1480Ter)
16g.3736765T>ACA394563915CREBBPc.4445A>T (p.Tyr1482Phe)
c.4331A>T (p.Tyr1444Phe)
c.3080A>T (p.Tyr1027Phe)
n.235A>T
n.266A>T
n.3268A>T
c.4400A>T (p.Tyr1467Phe)
c.4028A>T (p.Tyr1343Phe)
c.4184A>T (p.Tyr1395Phe)
c.4391A>T (p.Tyr1464Phe)
c.3692A>T (p.Tyr1231Phe)
c.4439A>T (p.Tyr1480Phe)
16g.3736765T>CCA271417CREBBPc.4445A>G (p.Tyr1482Cys)
c.4331A>G (p.Tyr1444Cys)
c.3080A>G (p.Tyr1027Cys)
n.235A>G
n.266A>G
n.3268A>G
c.4400A>G (p.Tyr1467Cys)
c.4028A>G (p.Tyr1343Cys)
c.4184A>G (p.Tyr1395Cys)
c.4391A>G (p.Tyr1464Cys)
c.3692A>G (p.Tyr1231Cys)
c.4439A>G (p.Tyr1480Cys)
 ClinVar dbSNP COSMIC
16g.3736765T>GCA394563918CREBBPc.4445A>C (p.Tyr1482Ser)
c.4331A>C (p.Tyr1444Ser)
c.3080A>C (p.Tyr1027Ser)
n.235A>C
n.266A>C
n.3268A>C
c.4400A>C (p.Tyr1467Ser)
c.4028A>C (p.Tyr1343Ser)
c.4184A>C (p.Tyr1395Ser)
c.4391A>C (p.Tyr1464Ser)
c.3692A>C (p.Tyr1231Ser)
c.4439A>C (p.Tyr1480Ser)
 dbSNP COSMIC
16g.3736765T=CA2202936692CREBBPc.4445A= (p.Tyr1482=)
c.4331A= (p.Tyr1444=)
c.3080A= (p.Tyr1027=)
n.235A=
n.266A=
n.3268A=
c.4400A= (p.Tyr1467=)
c.4028A= (p.Tyr1343=)
c.4184A= (p.Tyr1395=)
c.4391A= (p.Tyr1464=)
c.3692A= (p.Tyr1231=)
c.4439A= (p.Tyr1480=)
16g.3736766A=CA2202936695CREBBPc.4444T= (p.Tyr1482=)
c.4330T= (p.Tyr1444=)
c.3079T= (p.Tyr1027=)
n.234T=
n.265T=
n.3267T=
c.4399T= (p.Tyr1467=)
c.4027T= (p.Tyr1343=)
c.4183T= (p.Tyr1395=)
c.4390T= (p.Tyr1464=)
c.3691T= (p.Tyr1231=)
c.4438T= (p.Tyr1480=)
16g.3736766A>CCA271415CREBBPc.4444T>G (p.Tyr1482Asp)
c.4330T>G (p.Tyr1444Asp)
c.3079T>G (p.Tyr1027Asp)
n.234T>G
n.265T>G
n.3267T>G
c.4399T>G (p.Tyr1467Asp)
c.4027T>G (p.Tyr1343Asp)
c.4183T>G (p.Tyr1395Asp)
c.4390T>G (p.Tyr1464Asp)
c.3691T>G (p.Tyr1231Asp)
c.4438T>G (p.Tyr1480Asp)
 ClinVar dbSNP
16g.3736766A>GCA394563921CREBBPc.4444T>C (p.Tyr1482His)
c.4330T>C (p.Tyr1444His)
c.3079T>C (p.Tyr1027His)
n.234T>C
n.265T>C
n.3267T>C
c.4399T>C (p.Tyr1467His)
c.4027T>C (p.Tyr1343His)
c.4183T>C (p.Tyr1395His)
c.4390T>C (p.Tyr1464His)
c.3691T>C (p.Tyr1231His)
c.4438T>C (p.Tyr1480His)
 dbSNP gnomAD v4 COSMIC
16g.3736766A>TCA394563923CREBBPc.4444T>A (p.Tyr1482Asn)
c.4330T>A (p.Tyr1444Asn)
c.3079T>A (p.Tyr1027Asn)
n.234T>A
n.265T>A
n.3267T>A
c.4399T>A (p.Tyr1467Asn)
c.4027T>A (p.Tyr1343Asn)
c.4183T>A (p.Tyr1395Asn)
c.4390T>A (p.Tyr1464Asn)
c.3691T>A (p.Tyr1231Asn)
c.4438T>A (p.Tyr1480Asn)
 dbSNP COSMIC
16g.3736767delCA2695222630CREBBPc.4444del (p.Tyr1482ThrfsTer?)
c.4330del (p.Tyr1444ThrfsTer?)
c.3079del (p.Tyr1027ThrfsTer?)
n.234del
n.265del
n.3267del
c.4399del (p.Tyr1467ThrfsTer?)
c.4027del (p.Tyr1343ThrfsTer?)
c.4183del (p.Tyr1395ThrfsTer?)
c.4390del (p.Tyr1464ThrfsTer?)
c.3691del (p.Tyr1231ThrfsTer?)
c.4438del (p.Tyr1480ThrfsTer?)

Number of alleles fetched