Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.3736645_3736670del | CA2739290734 | CREBBP | c.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 | |
16 | g.3736646del | CA2631401603 | CREBBP | c.4560+6del (n.4560+6del) c.4446+6del (n.4446+6del) c.3195+6del (n.3195+6del) n.350+6del n.387del n.3383+6del c.4515+6del (n.4515+6del) c.4143+6del (n.4143+6del) c.4299+6del (n.4299+6del) c.4506+6del (n.4506+6del) c.3807+6del (n.3807+6del) c.4554+6del (n.4554+6del) | gnomAD v4 |
16 | g.3736645G>A | CA2631401609 | CREBBP | c.4560+5C>T (n.4560+5C>T) c.4446+5C>T (n.4446+5C>T) c.3195+5C>T (n.3195+5C>T) n.350+5C>T n.386C>T n.3383+5C>T c.4515+5C>T (n.4515+5C>T) c.4143+5C>T (n.4143+5C>T) c.4299+5C>T (n.4299+5C>T) c.4506+5C>T (n.4506+5C>T) c.3807+5C>T (n.3807+5C>T) c.4554+5C>T (n.4554+5C>T) | dbSNP gnomAD v4 |
16 | g.3736645G>C | CA7869510 | CREBBP | c.4560+5C>G (n.4560+5C>G) c.4446+5C>G (n.4446+5C>G) c.3195+5C>G (n.3195+5C>G) n.350+5C>G n.386C>G n.3383+5C>G c.4515+5C>G (n.4515+5C>G) c.4143+5C>G (n.4143+5C>G) c.4299+5C>G (n.4299+5C>G) c.4506+5C>G (n.4506+5C>G) c.3807+5C>G (n.3807+5C>G) c.4554+5C>G (n.4554+5C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3736645G= | CA2202936540 | CREBBP | c.4560+5C= (n.4560+5C=) c.4446+5C= (n.4446+5C=) c.3195+5C= (n.3195+5C=) n.350+5C= n.386C= n.3383+5C= c.4515+5C= (n.4515+5C=) c.4143+5C= (n.4143+5C=) c.4299+5C= (n.4299+5C=) c.4506+5C= (n.4506+5C=) c.3807+5C= (n.3807+5C=) c.4554+5C= (n.4554+5C=) | |
16 | g.3736645G>T | CA2731569877 | CREBBP | c.4560+5C>A (n.4560+5C>A) c.4446+5C>A (n.4446+5C>A) c.3195+5C>A (n.3195+5C>A) n.350+5C>A n.386C>A n.3383+5C>A c.4515+5C>A (n.4515+5C>A) c.4143+5C>A (n.4143+5C>A) c.4299+5C>A (n.4299+5C>A) c.4506+5C>A (n.4506+5C>A) c.3807+5C>A (n.3807+5C>A) c.4554+5C>A (n.4554+5C>A) | dbSNP |
16 | g.3736646G>A | CA2202936542 | CREBBP | c.4560+4C>T (n.4560+4C>T) c.4446+4C>T (n.4446+4C>T) c.3195+4C>T (n.3195+4C>T) n.350+4C>T n.385C>T n.3383+4C>T c.4515+4C>T (n.4515+4C>T) c.4143+4C>T (n.4143+4C>T) c.4299+4C>T (n.4299+4C>T) c.4506+4C>T (n.4506+4C>T) c.3807+4C>T (n.3807+4C>T) c.4554+4C>T (n.4554+4C>T) | dbSNP gnomAD v4 |
16 | g.3736646G>C | CA2731630263 | CREBBP | c.4560+4C>G (n.4560+4C>G) c.4446+4C>G (n.4446+4C>G) c.3195+4C>G (n.3195+4C>G) n.350+4C>G n.385C>G n.3383+4C>G c.4515+4C>G (n.4515+4C>G) c.4143+4C>G (n.4143+4C>G) c.4299+4C>G (n.4299+4C>G) c.4506+4C>G (n.4506+4C>G) c.3807+4C>G (n.3807+4C>G) c.4554+4C>G (n.4554+4C>G) | dbSNP |
16 | g.3736646G= | CA2202936541 | CREBBP | c.4560+4C= (n.4560+4C=) c.4446+4C= (n.4446+4C=) c.3195+4C= (n.3195+4C=) n.350+4C= n.385C= n.3383+4C= c.4515+4C= (n.4515+4C=) c.4143+4C= (n.4143+4C=) c.4299+4C= (n.4299+4C=) c.4506+4C= (n.4506+4C=) c.3807+4C= (n.3807+4C=) c.4554+4C= (n.4554+4C=) | |
16 | g.3736647T>A | CA2731849843 | CREBBP | c.4560+3A>T (n.4560+3A>T) c.4446+3A>T (n.4446+3A>T) c.3195+3A>T (n.3195+3A>T) n.350+3A>T n.384A>T n.3383+3A>T c.4515+3A>T (n.4515+3A>T) c.4143+3A>T (n.4143+3A>T) c.4299+3A>T (n.4299+3A>T) c.4506+3A>T (n.4506+3A>T) c.3807+3A>T (n.3807+3A>T) c.4554+3A>T (n.4554+3A>T) | dbSNP |
16 | g.3736647T>C | CA2731849841 | CREBBP | c.4560+3A>G (n.4560+3A>G) c.4446+3A>G (n.4446+3A>G) c.3195+3A>G (n.3195+3A>G) n.350+3A>G n.384A>G n.3383+3A>G c.4515+3A>G (n.4515+3A>G) c.4143+3A>G (n.4143+3A>G) c.4299+3A>G (n.4299+3A>G) c.4506+3A>G (n.4506+3A>G) c.3807+3A>G (n.3807+3A>G) c.4554+3A>G (n.4554+3A>G) | dbSNP |
16 | g.3736647T>G | CA645575174 | CREBBP | c.4560+3A>C (n.4560+3A>C) c.4446+3A>C (n.4446+3A>C) c.3195+3A>C (n.3195+3A>C) n.350+3A>C n.384A>C n.3383+3A>C c.4515+3A>C (n.4515+3A>C) c.4143+3A>C (n.4143+3A>C) c.4299+3A>C (n.4299+3A>C) c.4506+3A>C (n.4506+3A>C) c.3807+3A>C (n.3807+3A>C) c.4554+3A>C (n.4554+3A>C) | dbSNP COSMIC |
16 | g.3736648A>C | CA394563228 | CREBBP | c.4560+2T>G (n.4560+2T>G) c.4446+2T>G (n.4446+2T>G) c.3195+2T>G (n.3195+2T>G) n.350+2T>G n.383T>G n.3383+2T>G c.4515+2T>G (n.4515+2T>G) c.4143+2T>G (n.4143+2T>G) c.4299+2T>G (n.4299+2T>G) c.4506+2T>G (n.4506+2T>G) c.3807+2T>G (n.3807+2T>G) c.4554+2T>G (n.4554+2T>G) | |
16 | g.3736648A>G | CA394563225 | CREBBP | c.4560+2T>C (n.4560+2T>C) c.4446+2T>C (n.4446+2T>C) c.3195+2T>C (n.3195+2T>C) n.350+2T>C n.383T>C n.3383+2T>C c.4515+2T>C (n.4515+2T>C) c.4143+2T>C (n.4143+2T>C) c.4299+2T>C (n.4299+2T>C) c.4506+2T>C (n.4506+2T>C) c.3807+2T>C (n.3807+2T>C) c.4554+2T>C (n.4554+2T>C) | dbSNP |
16 | g.3736648A>T | CA394563227 | CREBBP | c.4560+2T>A (n.4560+2T>A) c.4446+2T>A (n.4446+2T>A) c.3195+2T>A (n.3195+2T>A) n.350+2T>A n.383T>A n.3383+2T>A c.4515+2T>A (n.4515+2T>A) c.4143+2T>A (n.4143+2T>A) c.4299+2T>A (n.4299+2T>A) c.4506+2T>A (n.4506+2T>A) c.3807+2T>A (n.3807+2T>A) c.4554+2T>A (n.4554+2T>A) | dbSNP |
16 | g.3736649C>A | CA394563230 | CREBBP | c.4560+1G>T (n.4560+1G>T) c.4446+1G>T (n.4446+1G>T) c.3195+1G>T (n.3195+1G>T) n.350+1G>T n.382G>T n.3383+1G>T c.4515+1G>T (n.4515+1G>T) c.4143+1G>T (n.4143+1G>T) c.4299+1G>T (n.4299+1G>T) c.4506+1G>T (n.4506+1G>T) c.3807+1G>T (n.3807+1G>T) c.4554+1G>T (n.4554+1G>T) | |
16 | g.3736649C>G | CA394563232 | CREBBP | c.4560+1G>C (n.4560+1G>C) c.4446+1G>C (n.4446+1G>C) c.3195+1G>C (n.3195+1G>C) n.350+1G>C n.382G>C n.3383+1G>C c.4515+1G>C (n.4515+1G>C) c.4143+1G>C (n.4143+1G>C) c.4299+1G>C (n.4299+1G>C) c.4506+1G>C (n.4506+1G>C) c.3807+1G>C (n.3807+1G>C) c.4554+1G>C (n.4554+1G>C) | dbSNP |
16 | g.3736649C>T | CA394563234 | CREBBP | c.4560+1G>A (n.4560+1G>A) c.4446+1G>A (n.4446+1G>A) c.3195+1G>A (n.3195+1G>A) n.350+1G>A n.382G>A n.3383+1G>A c.4515+1G>A (n.4515+1G>A) c.4143+1G>A (n.4143+1G>A) c.4299+1G>A (n.4299+1G>A) c.4506+1G>A (n.4506+1G>A) c.3807+1G>A (n.3807+1G>A) c.4554+1G>A (n.4554+1G>A) | dbSNP |
16 | g.3736650C>A | CA394563236 | CREBBP | c.4560G>T (p.Lys1520Asn) c.4446G>T (p.Lys1482Asn) c.3195G>T (p.Lys1065Asn) n.350G>T n.381G>T n.3383G>T c.4515G>T (p.Lys1505Asn) c.4143G>T (p.Lys1381Asn) c.4299G>T (p.Lys1433Asn) c.4506G>T (p.Lys1502Asn) c.3807G>T (p.Lys1269Asn) c.4554G>T (p.Lys1518Asn) | |
16 | g.3736650C>G | CA394563239 | CREBBP | c.4560G>C (p.Lys1520Asn) c.4446G>C (p.Lys1482Asn) c.3195G>C (p.Lys1065Asn) n.350G>C n.381G>C n.3383G>C c.4515G>C (p.Lys1505Asn) c.4143G>C (p.Lys1381Asn) c.4299G>C (p.Lys1433Asn) c.4506G>C (p.Lys1502Asn) c.3807G>C (p.Lys1269Asn) c.4554G>C (p.Lys1518Asn) | |
16 | g.3736650C>T | CA493279088 | CREBBP | c.4560G>A (p.Lys1520=) c.4446G>A (p.Lys1482=) c.3195G>A (p.Lys1065=) n.350G>A n.381G>A n.3383G>A c.4515G>A (p.Lys1505=) c.4143G>A (p.Lys1381=) c.4299G>A (p.Lys1433=) c.4506G>A (p.Lys1502=) c.3807G>A (p.Lys1269=) c.4554G>A (p.Lys1518=) | |
16 | g.3736651T>A | CA394563242 | CREBBP | c.4559A>T (p.Lys1520Met) c.4445A>T (p.Lys1482Met) c.3194A>T (p.Lys1065Met) n.349A>T n.380A>T n.3382A>T c.4514A>T (p.Lys1505Met) c.4142A>T (p.Lys1381Met) c.4298A>T (p.Lys1433Met) c.4505A>T (p.Lys1502Met) c.3806A>T (p.Lys1269Met) c.4553A>T (p.Lys1518Met) | ClinVar dbSNP |
16 | g.3736651T>C | CA394563244 | CREBBP | c.4559A>G (p.Lys1520Arg) c.4445A>G (p.Lys1482Arg) c.3194A>G (p.Lys1065Arg) n.349A>G n.380A>G n.3382A>G c.4514A>G (p.Lys1505Arg) c.4142A>G (p.Lys1381Arg) c.4298A>G (p.Lys1433Arg) c.4505A>G (p.Lys1502Arg) c.3806A>G (p.Lys1269Arg) c.4553A>G (p.Lys1518Arg) | ClinVar dbSNP |
16 | g.3736651T>G | CA394563245 | CREBBP | c.4559A>C (p.Lys1520Thr) c.4445A>C (p.Lys1482Thr) c.3194A>C (p.Lys1065Thr) n.349A>C n.380A>C n.3382A>C c.4514A>C (p.Lys1505Thr) c.4142A>C (p.Lys1381Thr) c.4298A>C (p.Lys1433Thr) c.4505A>C (p.Lys1502Thr) c.3806A>C (p.Lys1269Thr) c.4553A>C (p.Lys1518Thr) | |
16 | g.3736651T= | CA2202936547 | CREBBP | c.4559A= (p.Lys1520=) c.4445A= (p.Lys1482=) c.3194A= (p.Lys1065=) n.349A= n.380A= n.3382A= c.4514A= (p.Lys1505=) c.4142A= (p.Lys1381=) c.4298A= (p.Lys1433=) c.4505A= (p.Lys1502=) c.3806A= (p.Lys1269=) c.4553A= (p.Lys1518=) | |
16 | g.3736652T>A | CA394563247 | CREBBP | c.4558A>T (p.Lys1520Ter) c.4444A>T (p.Lys1482Ter) c.3193A>T (p.Lys1065Ter) n.348A>T n.379A>T n.3381A>T c.4513A>T (p.Lys1505Ter) c.4141A>T (p.Lys1381Ter) c.4297A>T (p.Lys1433Ter) c.4504A>T (p.Lys1502Ter) c.3805A>T (p.Lys1269Ter) c.4552A>T (p.Lys1518Ter) | |
16 | g.3736652T>C | CA394563250 | CREBBP | c.4558A>G (p.Lys1520Glu) c.4444A>G (p.Lys1482Glu) c.3193A>G (p.Lys1065Glu) n.348A>G n.379A>G n.3381A>G c.4513A>G (p.Lys1505Glu) c.4141A>G (p.Lys1381Glu) c.4297A>G (p.Lys1433Glu) c.4504A>G (p.Lys1502Glu) c.3805A>G (p.Lys1269Glu) c.4552A>G (p.Lys1518Glu) | |
16 | g.3736652T>G | CA394563253 | CREBBP | c.4558A>C (p.Lys1520Gln) c.4444A>C (p.Lys1482Gln) c.3193A>C (p.Lys1065Gln) n.348A>C n.379A>C n.3381A>C c.4513A>C (p.Lys1505Gln) c.4141A>C (p.Lys1381Gln) c.4297A>C (p.Lys1433Gln) c.4504A>C (p.Lys1502Gln) c.3805A>C (p.Lys1269Gln) c.4552A>C (p.Lys1518Gln) | |
16 | g.3736653G>A | CA493279095 | CREBBP | c.4557C>T (p.Tyr1519=) c.4443C>T (p.Tyr1481=) c.3192C>T (p.Tyr1064=) n.347C>T n.378C>T n.3380C>T c.4512C>T (p.Tyr1504=) c.4140C>T (p.Tyr1380=) c.4296C>T (p.Tyr1432=) c.4503C>T (p.Tyr1501=) c.3804C>T (p.Tyr1268=) c.4551C>T (p.Tyr1517=) | dbSNP |
16 | g.3736653G>C | CA394563256 | CREBBP | c.4557C>G (p.Tyr1519Ter) c.4443C>G (p.Tyr1481Ter) c.3192C>G (p.Tyr1064Ter) n.347C>G n.378C>G n.3380C>G c.4512C>G (p.Tyr1504Ter) c.4140C>G (p.Tyr1380Ter) c.4296C>G (p.Tyr1432Ter) c.4503C>G (p.Tyr1501Ter) c.3804C>G (p.Tyr1268Ter) c.4551C>G (p.Tyr1517Ter) | dbSNP |
16 | g.3736653G>T | CA394563258 | CREBBP | c.4557C>A (p.Tyr1519Ter) c.4443C>A (p.Tyr1481Ter) c.3192C>A (p.Tyr1064Ter) n.347C>A n.378C>A n.3380C>A c.4512C>A (p.Tyr1504Ter) c.4140C>A (p.Tyr1380Ter) c.4296C>A (p.Tyr1432Ter) c.4503C>A (p.Tyr1501Ter) c.3804C>A (p.Tyr1268Ter) c.4551C>A (p.Tyr1517Ter) | |
16 | g.3736654T>A | CA394563259 | CREBBP | c.4556A>T (p.Tyr1519Phe) c.4442A>T (p.Tyr1481Phe) c.3191A>T (p.Tyr1064Phe) n.346A>T n.377A>T n.3379A>T c.4511A>T (p.Tyr1504Phe) c.4139A>T (p.Tyr1380Phe) c.4295A>T (p.Tyr1432Phe) c.4502A>T (p.Tyr1501Phe) c.3803A>T (p.Tyr1268Phe) c.4550A>T (p.Tyr1517Phe) | dbSNP |
16 | g.3736654T>C | CA394563265 | CREBBP | c.4556A>G (p.Tyr1519Cys) c.4442A>G (p.Tyr1481Cys) c.3191A>G (p.Tyr1064Cys) n.346A>G n.377A>G n.3379A>G c.4511A>G (p.Tyr1504Cys) c.4139A>G (p.Tyr1380Cys) c.4295A>G (p.Tyr1432Cys) c.4502A>G (p.Tyr1501Cys) c.3803A>G (p.Tyr1268Cys) c.4550A>G (p.Tyr1517Cys) | dbSNP COSMIC |
16 | g.3736654T>G | CA394563262 | CREBBP | c.4556A>C (p.Tyr1519Ser) c.4442A>C (p.Tyr1481Ser) c.3191A>C (p.Tyr1064Ser) n.346A>C n.377A>C n.3379A>C c.4511A>C (p.Tyr1504Ser) c.4139A>C (p.Tyr1380Ser) c.4295A>C (p.Tyr1432Ser) c.4502A>C (p.Tyr1501Ser) c.3803A>C (p.Tyr1268Ser) c.4550A>C (p.Tyr1517Ser) | dbSNP |
16 | g.3736655A>C | CA394563267 | CREBBP | c.4555T>G (p.Tyr1519Asp) c.4441T>G (p.Tyr1481Asp) c.3190T>G (p.Tyr1064Asp) n.345T>G n.376T>G n.3378T>G c.4510T>G (p.Tyr1504Asp) c.4138T>G (p.Tyr1380Asp) c.4294T>G (p.Tyr1432Asp) c.4501T>G (p.Tyr1501Asp) c.3802T>G (p.Tyr1268Asp) c.4549T>G (p.Tyr1517Asp) | |
16 | g.3736655A>G | CA394563269 | CREBBP | c.4555T>C (p.Tyr1519His) c.4441T>C (p.Tyr1481His) c.3190T>C (p.Tyr1064His) n.345T>C n.376T>C n.3378T>C c.4510T>C (p.Tyr1504His) c.4138T>C (p.Tyr1380His) c.4294T>C (p.Tyr1432His) c.4501T>C (p.Tyr1501His) c.3802T>C (p.Tyr1268His) c.4549T>C (p.Tyr1517His) | |
16 | g.3736655A>T | CA394563272 | CREBBP | c.4555T>A (p.Tyr1519Asn) c.4441T>A (p.Tyr1481Asn) c.3190T>A (p.Tyr1064Asn) n.345T>A n.376T>A n.3378T>A c.4510T>A (p.Tyr1504Asn) c.4138T>A (p.Tyr1380Asn) c.4294T>A (p.Tyr1432Asn) c.4501T>A (p.Tyr1501Asn) c.3802T>A (p.Tyr1268Asn) c.4549T>A (p.Tyr1517Asn) | dbSNP |
16 | g.3736656G>A | CA493279106 | CREBBP | c.4554C>T (p.Asp1518=) c.4440C>T (p.Asp1480=) c.3189C>T (p.Asp1063=) n.344C>T n.375C>T n.3377C>T c.4509C>T (p.Asp1503=) c.4137C>T (p.Asp1379=) c.4293C>T (p.Asp1431=) c.4500C>T (p.Asp1500=) c.3801C>T (p.Asp1267=) c.4548C>T (p.Asp1516=) | |
16 | g.3736656G>C | CA394563275 | CREBBP | c.4554C>G (p.Asp1518Glu) c.4440C>G (p.Asp1480Glu) c.3189C>G (p.Asp1063Glu) n.344C>G n.375C>G n.3377C>G c.4509C>G (p.Asp1503Glu) c.4137C>G (p.Asp1379Glu) c.4293C>G (p.Asp1431Glu) c.4500C>G (p.Asp1500Glu) c.3801C>G (p.Asp1267Glu) c.4548C>G (p.Asp1516Glu) | ClinVar dbSNP |
16 | g.3736656G>T | CA394563278 | CREBBP | c.4554C>A (p.Asp1518Glu) c.4440C>A (p.Asp1480Glu) c.3189C>A (p.Asp1063Glu) n.344C>A n.375C>A n.3377C>A c.4509C>A (p.Asp1503Glu) c.4137C>A (p.Asp1379Glu) c.4293C>A (p.Asp1431Glu) c.4500C>A (p.Asp1500Glu) c.3801C>A (p.Asp1267Glu) c.4548C>A (p.Asp1516Glu) | |
16 | g.3736657T>A | CA394563280 | CREBBP | c.4553A>T (p.Asp1518Val) c.4439A>T (p.Asp1480Val) c.3188A>T (p.Asp1063Val) n.343A>T n.374A>T n.3376A>T c.4508A>T (p.Asp1503Val) c.4136A>T (p.Asp1379Val) c.4292A>T (p.Asp1431Val) c.4499A>T (p.Asp1500Val) c.3800A>T (p.Asp1267Val) c.4547A>T (p.Asp1516Val) | dbSNP |
16 | g.3736657T>C | CA394563283 | CREBBP | c.4553A>G (p.Asp1518Gly) c.4439A>G (p.Asp1480Gly) c.3188A>G (p.Asp1063Gly) n.343A>G n.374A>G n.3376A>G c.4508A>G (p.Asp1503Gly) c.4136A>G (p.Asp1379Gly) c.4292A>G (p.Asp1431Gly) c.4499A>G (p.Asp1500Gly) c.3800A>G (p.Asp1267Gly) c.4547A>G (p.Asp1516Gly) | |
16 | g.3736657T>G | CA394563285 | CREBBP | c.4553A>C (p.Asp1518Ala) c.4439A>C (p.Asp1480Ala) c.3188A>C (p.Asp1063Ala) n.343A>C n.374A>C n.3376A>C c.4508A>C (p.Asp1503Ala) c.4136A>C (p.Asp1379Ala) c.4292A>C (p.Asp1431Ala) c.4499A>C (p.Asp1500Ala) c.3800A>C (p.Asp1267Ala) c.4547A>C (p.Asp1516Ala) | dbSNP |
16 | g.3736658C>A | CA394563286 | CREBBP | c.4552G>T (p.Asp1518Tyr) c.4438G>T (p.Asp1480Tyr) c.3187G>T (p.Asp1063Tyr) n.342G>T n.373G>T n.3375G>T c.4507G>T (p.Asp1503Tyr) c.4135G>T (p.Asp1379Tyr) c.4291G>T (p.Asp1431Tyr) c.4498G>T (p.Asp1500Tyr) c.3799G>T (p.Asp1267Tyr) c.4546G>T (p.Asp1516Tyr) | dbSNP |
16 | g.3736658C>G | CA394563289 | CREBBP | c.4552G>C (p.Asp1518His) c.4438G>C (p.Asp1480His) c.3187G>C (p.Asp1063His) n.342G>C n.373G>C n.3375G>C c.4507G>C (p.Asp1503His) c.4135G>C (p.Asp1379His) c.4291G>C (p.Asp1431His) c.4498G>C (p.Asp1500His) c.3799G>C (p.Asp1267His) c.4546G>C (p.Asp1516His) | dbSNP |
16 | g.3736658C>T | CA394563293 | CREBBP | c.4552G>A (p.Asp1518Asn) c.4438G>A (p.Asp1480Asn) c.3187G>A (p.Asp1063Asn) n.342G>A n.373G>A n.3375G>A c.4507G>A (p.Asp1503Asn) c.4135G>A (p.Asp1379Asn) c.4291G>A (p.Asp1431Asn) c.4498G>A (p.Asp1500Asn) c.3799G>A (p.Asp1267Asn) c.4546G>A (p.Asp1516Asn) | dbSNP |
16 | g.3736659A>C | CA394563295 | CREBBP | c.4551T>G (p.His1517Gln) c.4437T>G (p.His1479Gln) c.3186T>G (p.His1062Gln) n.341T>G n.372T>G n.3374T>G c.4506T>G (p.His1502Gln) c.4134T>G (p.His1378Gln) c.4290T>G (p.His1430Gln) c.4497T>G (p.His1499Gln) c.3798T>G (p.His1266Gln) c.4545T>G (p.His1515Gln) | |
16 | g.3736659A>G | CA493279117 | CREBBP | c.4551T>C (p.His1517=) c.4437T>C (p.His1479=) c.3186T>C (p.His1062=) n.341T>C n.372T>C n.3374T>C c.4506T>C (p.His1502=) c.4134T>C (p.His1378=) c.4290T>C (p.His1430=) c.4497T>C (p.His1499=) c.3798T>C (p.His1266=) c.4545T>C (p.His1515=) | |
16 | g.3736659A>T | CA394563296 | CREBBP | c.4551T>A (p.His1517Gln) c.4437T>A (p.His1479Gln) c.3186T>A (p.His1062Gln) n.341T>A n.372T>A n.3374T>A c.4506T>A (p.His1502Gln) c.4134T>A (p.His1378Gln) c.4290T>A (p.His1430Gln) c.4497T>A (p.His1499Gln) c.3798T>A (p.His1266Gln) c.4545T>A (p.His1515Gln) | dbSNP |
16 | g.3736660T>A | CA394563303 | CREBBP | c.4550A>T (p.His1517Leu) c.4436A>T (p.His1479Leu) c.3185A>T (p.His1062Leu) n.340A>T n.371A>T n.3373A>T c.4505A>T (p.His1502Leu) c.4133A>T (p.His1378Leu) c.4289A>T (p.His1430Leu) c.4496A>T (p.His1499Leu) c.3797A>T (p.His1266Leu) c.4544A>T (p.His1515Leu) | |
16 | g.3736660T>C | CA394563299 | CREBBP | c.4550A>G (p.His1517Arg) c.4436A>G (p.His1479Arg) c.3185A>G (p.His1062Arg) n.340A>G n.371A>G n.3373A>G c.4505A>G (p.His1502Arg) c.4133A>G (p.His1378Arg) c.4289A>G (p.His1430Arg) c.4496A>G (p.His1499Arg) c.3797A>G (p.His1266Arg) c.4544A>G (p.His1515Arg) | dbSNP gnomAD v4 |
16 | g.3736660T>G | CA394563300 | CREBBP | c.4550A>C (p.His1517Pro) c.4436A>C (p.His1479Pro) c.3185A>C (p.His1062Pro) n.340A>C n.371A>C n.3373A>C c.4505A>C (p.His1502Pro) c.4133A>C (p.His1378Pro) c.4289A>C (p.His1430Pro) c.4496A>C (p.His1499Pro) c.3797A>C (p.His1266Pro) c.4544A>C (p.His1515Pro) | |
16 | g.3736660T= | CA2202936554 | CREBBP | c.4550A= (p.His1517=) c.4436A= (p.His1479=) c.3185A= (p.His1062=) n.340A= n.371A= n.3373A= c.4505A= (p.His1502=) c.4133A= (p.His1378=) c.4289A= (p.His1430=) c.4496A= (p.His1499=) c.3797A= (p.His1266=) c.4544A= (p.His1515=) | |
16 | g.3736661G>A | CA394563307 | CREBBP | c.4549C>T (p.His1517Tyr) c.4435C>T (p.His1479Tyr) c.3184C>T (p.His1062Tyr) n.339C>T n.370C>T n.3372C>T c.4504C>T (p.His1502Tyr) c.4132C>T (p.His1378Tyr) c.4288C>T (p.His1430Tyr) c.4495C>T (p.His1499Tyr) c.3796C>T (p.His1266Tyr) c.4543C>T (p.His1515Tyr) | dbSNP |
16 | g.3736661G>C | CA394563309 | CREBBP | c.4549C>G (p.His1517Asp) c.4435C>G (p.His1479Asp) c.3184C>G (p.His1062Asp) n.339C>G n.370C>G n.3372C>G c.4504C>G (p.His1502Asp) c.4132C>G (p.His1378Asp) c.4288C>G (p.His1430Asp) c.4495C>G (p.His1499Asp) c.3796C>G (p.His1266Asp) c.4543C>G (p.His1515Asp) | dbSNP |
16 | g.3736661G>T | CA394563319 | CREBBP | c.4549C>A (p.His1517Asn) c.4435C>A (p.His1479Asn) c.3184C>A (p.His1062Asn) n.339C>A n.370C>A n.3372C>A c.4504C>A (p.His1502Asn) c.4132C>A (p.His1378Asn) c.4288C>A (p.His1430Asn) c.4495C>A (p.His1499Asn) c.3796C>A (p.His1266Asn) c.4543C>A (p.His1515Asn) | |
16 | g.3736662G>A | CA493279125 | CREBBP | c.4548C>T (p.Ile1516=) c.4434C>T (p.Ile1478=) c.3183C>T (p.Ile1061=) n.338C>T n.369C>T n.3371C>T c.4503C>T (p.Ile1501=) c.4131C>T (p.Ile1377=) c.4287C>T (p.Ile1429=) c.4494C>T (p.Ile1498=) c.3795C>T (p.Ile1265=) c.4542C>T (p.Ile1514=) | ClinVar dbSNP |
16 | g.3736662G>C | CA394563322 | CREBBP | c.4548C>G (p.Ile1516Met) c.4434C>G (p.Ile1478Met) c.3183C>G (p.Ile1061Met) n.338C>G n.369C>G n.3371C>G c.4503C>G (p.Ile1501Met) c.4131C>G (p.Ile1377Met) c.4287C>G (p.Ile1429Met) c.4494C>G (p.Ile1498Met) c.3795C>G (p.Ile1265Met) c.4542C>G (p.Ile1514Met) | COSMIC |
16 | g.3736662G>T | CA493279129 | CREBBP | c.4548C>A (p.Ile1516=) c.4434C>A (p.Ile1478=) c.3183C>A (p.Ile1061=) n.338C>A n.369C>A n.3371C>A c.4503C>A (p.Ile1501=) c.4131C>A (p.Ile1377=) c.4287C>A (p.Ile1429=) c.4494C>A (p.Ile1498=) c.3795C>A (p.Ile1265=) c.4542C>A (p.Ile1514=) | |
16 | g.3736663A>C | CA394563326 | CREBBP | c.4547T>G (p.Ile1516Ser) c.4433T>G (p.Ile1478Ser) c.3182T>G (p.Ile1061Ser) n.337T>G n.368T>G n.3370T>G c.4502T>G (p.Ile1501Ser) c.4130T>G (p.Ile1377Ser) c.4286T>G (p.Ile1429Ser) c.4493T>G (p.Ile1498Ser) c.3794T>G (p.Ile1265Ser) c.4541T>G (p.Ile1514Ser) | |
16 | g.3736663A>G | CA394563329 | CREBBP | c.4547T>C (p.Ile1516Thr) c.4433T>C (p.Ile1478Thr) c.3182T>C (p.Ile1061Thr) n.337T>C n.368T>C n.3370T>C c.4502T>C (p.Ile1501Thr) c.4130T>C (p.Ile1377Thr) c.4286T>C (p.Ile1429Thr) c.4493T>C (p.Ile1498Thr) c.3794T>C (p.Ile1265Thr) c.4541T>C (p.Ile1514Thr) | dbSNP |
16 | g.3736663A>T | CA394563331 | CREBBP | c.4547T>A (p.Ile1516Asn) c.4433T>A (p.Ile1478Asn) c.3182T>A (p.Ile1061Asn) n.337T>A n.368T>A n.3370T>A c.4502T>A (p.Ile1501Asn) c.4130T>A (p.Ile1377Asn) c.4286T>A (p.Ile1429Asn) c.4493T>A (p.Ile1498Asn) c.3794T>A (p.Ile1265Asn) c.4541T>A (p.Ile1514Asn) | dbSNP |
16 | g.3736664T>A | CA394563335 | CREBBP | c.4546A>T (p.Ile1516Phe) c.4432A>T (p.Ile1478Phe) c.3181A>T (p.Ile1061Phe) n.336A>T n.367A>T n.3369A>T c.4501A>T (p.Ile1501Phe) c.4129A>T (p.Ile1377Phe) c.4285A>T (p.Ile1429Phe) c.4492A>T (p.Ile1498Phe) c.3793A>T (p.Ile1265Phe) c.4540A>T (p.Ile1514Phe) | dbSNP |
16 | g.3736664T>C | CA394563336 | CREBBP | c.4546A>G (p.Ile1516Val) c.4432A>G (p.Ile1478Val) c.3181A>G (p.Ile1061Val) n.336A>G n.367A>G n.3369A>G c.4501A>G (p.Ile1501Val) c.4129A>G (p.Ile1377Val) c.4285A>G (p.Ile1429Val) c.4492A>G (p.Ile1498Val) c.3793A>G (p.Ile1265Val) c.4540A>G (p.Ile1514Val) | dbSNP gnomAD v4 |
16 | g.3736664T>G | CA394563338 | CREBBP | c.4546A>C (p.Ile1516Leu) c.4432A>C (p.Ile1478Leu) c.3181A>C (p.Ile1061Leu) n.336A>C n.367A>C n.3369A>C c.4501A>C (p.Ile1501Leu) c.4129A>C (p.Ile1377Leu) c.4285A>C (p.Ile1429Leu) c.4492A>C (p.Ile1498Leu) c.3793A>C (p.Ile1265Leu) c.4540A>C (p.Ile1514Leu) | dbSNP |
16 | g.3736665G>A | CA493279141 | CREBBP | c.4545C>T (p.Ile1515=) c.4431C>T (p.Ile1477=) c.3180C>T (p.Ile1060=) n.335C>T n.366C>T n.3368C>T c.4500C>T (p.Ile1500=) c.4128C>T (p.Ile1376=) c.4284C>T (p.Ile1428=) c.4491C>T (p.Ile1497=) c.3792C>T (p.Ile1264=) c.4539C>T (p.Ile1513=) | dbSNP |
16 | g.3736665G>C | CA394563345 | CREBBP | c.4545C>G (p.Ile1515Met) c.4431C>G (p.Ile1477Met) c.3180C>G (p.Ile1060Met) n.335C>G n.366C>G n.3368C>G c.4500C>G (p.Ile1500Met) c.4128C>G (p.Ile1376Met) c.4284C>G (p.Ile1428Met) c.4491C>G (p.Ile1497Met) c.3792C>G (p.Ile1264Met) c.4539C>G (p.Ile1513Met) | dbSNP COSMIC |
16 | g.3736665G>T | CA493279139 | CREBBP | c.4545C>A (p.Ile1515=) c.4431C>A (p.Ile1477=) c.3180C>A (p.Ile1060=) n.335C>A n.366C>A n.3368C>A c.4500C>A (p.Ile1500=) c.4128C>A (p.Ile1376=) c.4284C>A (p.Ile1428=) c.4491C>A (p.Ile1497=) c.3792C>A (p.Ile1264=) c.4539C>A (p.Ile1513=) | |
16 | g.3736666A>C | CA394563350 | CREBBP | c.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 |
16 | g.3736666A>G | CA394563348 | CREBBP | c.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) | |
16 | g.3736666A>T | CA394563349 | CREBBP | c.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 |
16 | g.3736667T>A | CA394563353 | CREBBP | c.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 |
16 | g.3736667T>C | CA394563363 | CREBBP | c.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) | |
16 | g.3736667T>G | CA394563360 | CREBBP | c.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 |
16 | g.3736668C>A | CA493279150 | CREBBP | c.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 |
16 | g.3736668C= | CA2202936558 | CREBBP | c.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=) | |
16 | g.3736668C>G | CA276980031 | CREBBP | c.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 |
16 | g.3736668C>T | CA493279153 | CREBBP | c.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 |
16 | g.3736669C>A | CA394563366 | CREBBP | c.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 |
16 | g.3736669C>G | CA394563367 | CREBBP | c.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) | |
16 | g.3736669C>T | CA394563369 | CREBBP | c.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 |
16 | g.3736670G>A | CA394563371 | CREBBP | c.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 |
16 | g.3736670G>C | CA394563372 | CREBBP | c.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 |
16 | g.3736670G= | CA2202936560 | CREBBP | c.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=) | |
16 | g.3736670G>T | CA493279159 | CREBBP | c.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=) | |
16 | g.3736671C>A | CA394563375 | CREBBP | c.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 |
16 | g.3736671C= | CA2202936563 | CREBBP | c.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=) | |
16 | g.3736671C>G | CA394563378 | CREBBP | c.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 |
16 | g.3736671C>T | CA493279164 | CREBBP | c.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 |
16 | g.3736672T>A | CA394563380 | CREBBP | c.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 |
16 | g.3736672T>C | CA394563381 | CREBBP | c.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 |
16 | g.3736672T>G | CA394563384 | CREBBP | c.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) | |
16 | g.3736673C>A | CA394563388 | CREBBP | c.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 |
16 | g.3736673C>G | CA394563390 | CREBBP | c.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 |
16 | g.3736673C>T | CA394563392 | CREBBP | c.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 |
16 | g.3736674T>A | CA493279172 | CREBBP | c.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 |
16 | g.3736674T>C | CA493279174 | CREBBP | c.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 |
16 | g.3736674T>G | CA493279176 | CREBBP | c.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=) | |
16 | g.3736675G>A | CA394563395 | CREBBP | c.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 |
16 | g.3736675G>C | CA394563399 | CREBBP | c.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 |
16 | g.3736675G>T | CA394563397 | CREBBP | c.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 |
16 | g.3736676C>A | CA394563402 | CREBBP | c.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) | |
16 | g.3736676C>G | CA394563404 | CREBBP | c.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) | |
16 | g.3736676C>T | CA394563406 | CREBBP | c.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) | |
16 | g.3736677A= | CA2202936567 | CREBBP | c.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=) | |
16 | g.3736677A>C | CA394563408 | CREBBP | c.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) | |
16 | g.3736677A>G | CA493279185 | CREBBP | c.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 |
16 | g.3736677A>T | CA394563410 | CREBBP | c.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 |
16 | g.3736678A>C | CA394563413 | CREBBP | c.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 |
16 | g.3736678A>G | CA394563416 | CREBBP | c.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 |
16 | g.3736678A>T | CA394563417 | CREBBP | c.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 |
16 | g.3736679A>C | CA394563421 | CREBBP | c.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 |
16 | g.3736679A>G | CA394563424 | CREBBP | c.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 |
16 | g.3736679A>T | CA394563426 | CREBBP | c.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 |
16 | g.3736680C>A | CA7869512 | CREBBP | c.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 |
16 | g.3736680C= | CA2202936571 | CREBBP | c.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=) | |
16 | g.3736680C>G | CA493279194 | CREBBP | c.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 |
16 | g.3736680C>T | CA7869511 | CREBBP | c.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 |
16 | g.3736681G>A | CA7869513 | CREBBP | c.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 |
16 | g.3736681G>C | CA394563434 | CREBBP | c.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 |
16 | g.3736681G= | CA2202936573 | CREBBP | c.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=) | |
16 | g.3736681G>T | CA394563436 | CREBBP | c.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 |
16 | g.3736682C>A | CA394563437 | CREBBP | c.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 |
16 | g.3736682C>G | CA394563439 | CREBBP | c.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 |
16 | g.3736682C>T | CA394563440 | CREBBP | c.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 |
16 | g.3736683C>A | CA394563442 | CREBBP | c.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 |
16 | g.3736683C= | CA2202936576 | CREBBP | c.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=) | |
16 | g.3736683C>G | CA394563443 | CREBBP | c.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 |
16 | g.3736683C>T | CA493279206 | CREBBP | c.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 |
16 | g.3736684T>A | CA394563446 | CREBBP | c.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 |
16 | g.3736684T>C | CA394563449 | CREBBP | c.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 |
16 | g.3736684T>G | CA394563451 | CREBBP | c.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) | |
16 | g.3736685T>A | CA394563453 | CREBBP | c.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 |
16 | g.3736685T>C | CA394563455 | CREBBP | c.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) | |
16 | g.3736685T>G | CA394563458 | CREBBP | c.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) | |
16 | g.3736686G>A | CA493279215 | CREBBP | c.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 |
16 | g.3736686G>C | CA394563463 | CREBBP | c.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 |
16 | g.3736686G= | CA2202936579 | CREBBP | c.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=) | |
16 | g.3736686G>T | CA394563461 | CREBBP | c.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 |
16 | g.3736687T>A | CA394563466 | CREBBP | c.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 |
16 | g.3736687T>C | CA394563468 | CREBBP | c.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) | |
16 | g.3736687T>G | CA394563470 | CREBBP | c.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 |
16 | g.3736688C>A | CA394563471 | CREBBP | c.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 |
16 | g.3736688C>G | CA394563472 | CREBBP | c.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 |
16 | g.3736688C>T | CA394563474 | CREBBP | c.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 |
16 | g.3736689C>A | CA493279222 | CREBBP | c.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 |
16 | g.3736689C= | CA2202936580 | CREBBP | c.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=) | |
16 | g.3736689C>G | CA493279223 | CREBBP | c.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=) | |
16 | g.3736689C>T | CA493279225 | CREBBP | c.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 |
16 | g.3736690A= | CA2202936586 | CREBBP | c.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=) | |
16 | g.3736690A>C | CA394563477 | CREBBP | c.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) | |
16 | g.3736690A>G | CA16603336 | CREBBP | c.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 |
16 | g.3736690A>T | CA394563476 | CREBBP | c.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 |
16 | g.3736691G>A | CA493279231 | CREBBP | c.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 |
16 | g.3736691G>C | CA394563479 | CREBBP | c.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 |
16 | g.3736691G>T | CA394563482 | CREBBP | c.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 |
16 | g.3736692C>A | CA394563485 | CREBBP | c.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 |
16 | g.3736692C= | CA2202936592 | CREBBP | c.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=) | |
16 | g.3736692C>G | CA394563486 | CREBBP | c.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 |
16 | g.3736692C>T | CA394563487 | CREBBP | c.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 |
16 | g.3736693A>C | CA394563490 | CREBBP | c.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) | |
16 | g.3736693A>G | CA394563493 | CREBBP | c.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) | |
16 | g.3736693A>T | CA394563492 | CREBBP | c.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 |
16 | g.3736694T>A | CA394563495 | CREBBP | c.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 |
16 | g.3736694T>C | CA394563498 | CREBBP | c.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 |
16 | g.3736694T>G | CA394563501 | CREBBP | c.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 |
16 | g.3736695C>A | CA394563504 | CREBBP | c.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) | |
16 | g.3736695C>G | CA394563506 | CREBBP | c.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) | |
16 | g.3736695C>T | CA493279245 | CREBBP | c.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=) | |
16 | g.3736696T>A | CA394563510 | CREBBP | c.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 |
16 | g.3736696T>C | CA394563511 | CREBBP | c.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 |
16 | g.3736696T>G | CA394563514 | CREBBP | c.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) | |
16 | g.3736697T>A | CA394563517 | CREBBP | c.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 |
16 | g.3736697T>C | CA394563519 | CREBBP | c.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) | |
16 | g.3736697T>G | CA394563520 | CREBBP | c.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) | |
16 | g.3736698T>A | CA394563524 | CREBBP | c.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) | |
16 | g.3736698T>C | CA493279254 | CREBBP | c.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 |
16 | g.3736698T>G | CA394563526 | CREBBP | c.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) | |
16 | g.3736698T= | CA2202936595 | CREBBP | c.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=) | |
16 | g.3736699T>A | CA394563533 | CREBBP | c.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 |
16 | g.3736699T>C | CA394563530 | CREBBP | c.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) | |
16 | g.3736699T>G | CA394563529 | CREBBP | c.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 |
16 | g.3736700T>A | CA394563535 | CREBBP | c.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) | |
16 | g.3736700T>C | CA394563537 | CREBBP | c.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 |
16 | g.3736700T>G | CA394563539 | CREBBP | c.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 |
16 | g.3736701G>A | CA493279261 | CREBBP | c.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=) | |
16 | g.3736701G>C | CA394563542 | CREBBP | c.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 |
16 | g.3736701G= | CA2202936599 | CREBBP | c.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=) | |
16 | g.3736701G>T | CA394563545 | CREBBP | c.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 |
16 | g.3736702T>A | CA394563547 | CREBBP | c.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 |
16 | g.3736702T>C | CA271419 | CREBBP | c.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 |
16 | g.3736702T>G | CA394563551 | CREBBP | c.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 |
16 | g.3736702T= | CA2202936603 | CREBBP | c.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=) | |
16 | g.3736703A>C | CA394563554 | CREBBP | c.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 |
16 | g.3736703A>G | CA394563556 | CREBBP | c.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 |
16 | g.3736703A>T | CA394563559 | CREBBP | c.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 |
16 | g.3736704C>A | CA394563562 | CREBBP | c.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 |
16 | g.3736704C>G | CA394563564 | CREBBP | c.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 |
16 | g.3736704C>T | CA394563567 | CREBBP | c.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 |
16 | g.3736705C>A | CA394563571 | CREBBP | c.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 |
16 | g.3736705C>G | CA394563574 | CREBBP | c.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) | |
16 | g.3736705C>T | CA394563570 | CREBBP | c.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 |
16 | g.3736706A>C | CA394563576 | CREBBP | c.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 |
16 | g.3736706A>G | CA394563577 | CREBBP | c.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 |
16 | g.3736706A>T | CA394563579 | CREBBP | c.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 |
16 | g.3736707C>A | CA394563580 | CREBBP | c.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) | |
16 | g.3736707C= | CA2202936607 | CREBBP | c.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=) | |
16 | g.3736707C>G | CA394563582 | CREBBP | c.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 |
16 | g.3736707C>T | CA7869514 | CREBBP | c.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 |
16 | g.3736709_3736711del | CA645575175 | CREBBP | c.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 |
16 | g.3736708T>A | CA394563584 | CREBBP | c.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) | |
16 | g.3736708T>C | CA394563586 | CREBBP | c.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 |
16 | g.3736708T>G | CA394563587 | CREBBP | c.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) | |
16 | g.3736709C>A | CA394563589 | CREBBP | c.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 |
16 | g.3736709C>G | CA394563591 | CREBBP | c.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 |
16 | g.3736709C>T | CA394563593 | CREBBP | c.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 |
16 | g.3736710C>A | CA394563599 | CREBBP | c.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) | |
16 | g.3736710C>G | CA394563596 | CREBBP | c.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 |
16 | g.3736710C>T | CA493279293 | CREBBP | c.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 |
16 | g.3736711T>A | CA394563602 | CREBBP | c.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 |
16 | g.3736711T>C | CA394563605 | CREBBP | c.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 |
16 | g.3736711T>G | CA394563607 | CREBBP | c.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 |
16 | g.3736712G>A | CA394563610 | CREBBP | c.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 |
16 | g.3736712G>C | CA394563613 | CREBBP | c.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 |
16 | g.3736712G>T | CA394563616 | CREBBP | c.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 |
16 | g.3736713C>A | CA493279301 | CREBBP | c.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 |
16 | g.3736713C>G | CA493279305 | CREBBP | c.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 |
16 | g.3736713C>T | CA493279303 | CREBBP | c.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 |
16 | g.3736714A>C | CA394563618 | CREBBP | c.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 |
16 | g.3736714A>G | CA394563621 | CREBBP | c.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 |
16 | g.3736714A>T | CA394563624 | CREBBP | c.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 |
16 | g.3736715G>A | CA493279311 | CREBBP | c.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 |
16 | g.3736715G>C | CA394563628 | CREBBP | c.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 |
16 | g.3736715G= | CA2202936613 | CREBBP | c.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=) | |
16 | g.3736715G>T | CA394563629 | CREBBP | c.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) | |
16 | g.3736716T>A | CA493279312 | CREBBP | c.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=) | |
16 | g.3736716T>C | CA202087 | CREBBP | c.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 |
16 | g.3736716T>G | CA493279316 | CREBBP | c.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=) | |
16 | g.3736716T= | CA2202936620 | CREBBP | c.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=) | |
16 | g.3736717C>A | CA394563634 | CREBBP | c.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 |
16 | g.3736717C= | CA2202936625 | CREBBP | c.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=) | |
16 | g.3736717C>G | CA394563637 | CREBBP | c.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 |
16 | g.3736717C>T | CA394563635 | CREBBP | c.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 |
16 | g.3736718G>A | CA394563638 | CREBBP | c.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 |
16 | g.3736718G>C | CA394563641 | CREBBP | c.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) | |
16 | g.3736718G= | CA2202936630 | CREBBP | c.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=) | |
16 | g.3736718G>T | CA493279326 | CREBBP | c.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=) | |
16 | g.3736719T>A | CA394563643 | CREBBP | c.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 |
16 | g.3736719T>C | CA493279329 | CREBBP | c.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=) | |
16 | g.3736719T>G | CA394563646 | CREBBP | c.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 |
16 | g.3736719_3736720insG | CA2631401613 | CREBBP | c.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 |
16 | g.3736720T>A | CA394563650 | CREBBP | c.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 |
16 | g.3736720T>C | CA394563654 | CREBBP | c.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 |
16 | g.3736720T>G | CA394563651 | CREBBP | c.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 |
16 | g.3736720T= | CA2202936635 | CREBBP | c.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=) | |
16 | g.3736721T>A | CA394563657 | CREBBP | c.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 |
16 | g.3736721T>C | CA394563658 | CREBBP | c.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 |
16 | g.3736721T>G | CA394563660 | CREBBP | c.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) | |
16 | g.3736722T>A | CA493279335 | CREBBP | c.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 |
16 | g.3736722T>C | CA493279337 | CREBBP | c.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 |
16 | g.3736722T>G | CA493279339 | CREBBP | c.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 |
16 | g.3736722T= | CA2202936639 | CREBBP | c.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=) | |
16 | g.3736723G>A | CA394563662 | CREBBP | c.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 |
16 | g.3736723G>C | CA394563664 | CREBBP | c.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 |
16 | g.3736723G>T | CA394563665 | CREBBP | c.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 |
16 | g.3736724G>A | CA394563666 | CREBBP | c.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 |
16 | g.3736724G>C | CA394563668 | CREBBP | c.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 |
16 | g.3736724G>T | CA394563671 | CREBBP | c.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 |
16 | g.3736725del | CA2631401615 | CREBBP | c.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 |
16 | g.3736725C>A | CA394563672 | CREBBP | c.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 |
16 | g.3736725C>G | CA394563675 | CREBBP | c.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 |
16 | g.3736725C>T | CA493279352 | CREBBP | c.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 |
16 | g.3736726T>A | CA394563679 | CREBBP | c.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 |
16 | g.3736726T>C | CA394563676 | CREBBP | c.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 |
16 | g.3736726T>G | CA394563678 | CREBBP | c.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 |
16 | g.3736726T= | CA2202936645 | CREBBP | c.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=) | |
16 | g.3736727T>A | CA394563682 | CREBBP | c.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 |
16 | g.3736727T>C | CA394563684 | CREBBP | c.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) | |
16 | g.3736727T>G | CA394563686 | CREBBP | c.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) | |
16 | g.3736728G>A | CA493279361 | CREBBP | c.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 |
16 | g.3736728G>C | CA493279362 | CREBBP | c.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=) | |
16 | g.3736728G>T | CA493279363 | CREBBP | c.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 |
16 | g.3736730dup | CA2695222629 | CREBBP | c.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) | |
16 | g.3736730del | CA2580091147 | CREBBP | c.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 |
16 | g.3736729G>A | CA394563689 | CREBBP | c.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 |
16 | g.3736729G>C | CA222697 | CREBBP | c.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 |
16 | g.3736729G= | CA2202936648 | CREBBP | c.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=) | |
16 | g.3736729G>T | CA394563693 | CREBBP | c.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 |
16 | g.3736730G>A | CA394563695 | CREBBP | c.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 |
16 | g.3736730G>C | CA394563697 | CREBBP | c.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 |
16 | g.3736730G= | CA2202936653 | CREBBP | c.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=) | |
16 | g.3736730G>T | CA276980075 | CREBBP | c.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 |
16 | g.3736731T>A | CA493279376 | CREBBP | c.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 |
16 | g.3736731T>C | CA394563699 | CREBBP | c.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 |
16 | g.3736731T>G | CA493279380 | CREBBP | c.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 |
16 | g.3736731T= | CA2202936657 | CREBBP | c.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=) | |
16 | g.3736731dup | CA645575176 | CREBBP | c.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 |
16 | g.3736732A>C | CA394563707 | CREBBP | c.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) | |
16 | g.3736732A>G | CA394563704 | CREBBP | c.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) | |
16 | g.3736732A>T | CA394563702 | CREBBP | c.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 |
16 | g.3736733T>A | CA394563710 | CREBBP | c.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) | |
16 | g.3736733T>C | CA394563711 | CREBBP | c.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) | |
16 | g.3736733T>G | CA394563714 | CREBBP | c.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) | |
16 | g.3736738del | CA493279389 | CREBBP | c.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 |
16 | g.3736734T>A | CA394563717 | CREBBP | c.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 |
16 | g.3736734T>C | CA493279393 | CREBBP | c.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=) | |
16 | g.3736734T>G | CA394563719 | CREBBP | c.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) | |
16 | g.3736735T>A | CA394563722 | CREBBP | c.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) | |
16 | g.3736735T>C | CA394563724 | CREBBP | c.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) | |
16 | g.3736735T>G | CA394563727 | CREBBP | c.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) | |
16 | g.3736736T>A | CA394563729 | CREBBP | c.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 |
16 | g.3736736T>C | CA394563731 | CREBBP | c.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) | |
16 | g.3736736T>G | CA394563735 | CREBBP | c.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) | |
16 | g.3736737T>A | CA394563736 | CREBBP | c.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 |
16 | g.3736737T>C | CA493279407 | CREBBP | c.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 |
16 | g.3736737T>G | CA394563743 | CREBBP | c.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) | |
16 | g.3736737_3736739del | CA645575177 | CREBBP | c.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 |
16 | g.3736738T>A | CA394563746 | CREBBP | c.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 |
16 | g.3736738T>C | CA394563752 | CREBBP | c.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) | |
16 | g.3736738T>G | CA394563749 | CREBBP | c.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) | |
16 | g.3736739G>A | CA394563756 | CREBBP | c.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 |
16 | g.3736739G>C | CA394563759 | CREBBP | c.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 |
16 | g.3736739G= | CA2202936661 | CREBBP | c.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=) | |
16 | g.3736739G>T | CA276980080 | CREBBP | c.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) | ClinVar dbSNP gnomAD v4 |
16 | g.3736740A>C | CA394563764 | CREBBP | c.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) | |
16 | g.3736740A>G | CA493279416 | CREBBP | c.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 |
16 | g.3736740A>T | CA394563767 | CREBBP | c.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 |
16 | g.3736741T>A | CA394563771 | CREBBP | c.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) | |
16 | g.3736741T>C | CA394563773 | CREBBP | c.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) | |
16 | g.3736741T>G | CA394563776 | CREBBP | c.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) | |
16 | g.3736742C>A | CA394563779 | CREBBP | c.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 |
16 | g.3736742C>G | CA394563782 | CREBBP | c.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 |
16 | g.3736742C>T | CA394563785 | CREBBP | c.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 |
16 | g.3736743A>C | CA493279425 | CREBBP | c.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=) | |
16 | g.3736743A>G | CA493279427 | CREBBP | c.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 |
16 | g.3736743A>T | CA493279428 | CREBBP | c.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 |
16 | g.3736744G>A | CA394563791 | CREBBP | c.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 |
16 | g.3736744G>C | CA394563794 | CREBBP | c.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 |
16 | g.3736744G>T | CA394563788 | CREBBP | c.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 |
16 | g.3736745G>A | CA394563798 | CREBBP | c.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 |
16 | g.3736745G>C | CA394563799 | CREBBP | c.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 |
16 | g.3736745G= | CA2202936664 | CREBBP | c.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=) | |
16 | g.3736745G>T | CA394563801 | CREBBP | c.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 |