| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.3729819A>C | CA394557587 | CREBBP | c.5228T>G (p.Val1743Gly) c.5114T>G (p.Val1705Gly) c.5183T>G (p.Val1728Gly) c.4811T>G (p.Val1604Gly) c.4967T>G (p.Val1656Gly) c.5174T>G (p.Val1725Gly) c.4475T>G (p.Val1492Gly) c.5222T>G (p.Val1741Gly) | |
| 16 | g.3729819A>G | CA394557588 | CREBBP | c.5228T>C (p.Val1743Ala) c.5114T>C (p.Val1705Ala) c.5183T>C (p.Val1728Ala) c.4811T>C (p.Val1604Ala) c.4967T>C (p.Val1656Ala) c.5174T>C (p.Val1725Ala) c.4475T>C (p.Val1492Ala) c.5222T>C (p.Val1741Ala) | |
| 16 | g.3729819A>T | CA394557590 | CREBBP | c.5228T>A (p.Val1743Glu) c.5114T>A (p.Val1705Glu) c.5183T>A (p.Val1728Glu) c.4811T>A (p.Val1604Glu) c.4967T>A (p.Val1656Glu) c.5174T>A (p.Val1725Glu) c.4475T>A (p.Val1492Glu) c.5222T>A (p.Val1741Glu) | |
| 16 | g.3729820C>A | CA394557592 | CREBBP | c.5227G>T (p.Val1743Leu) c.5113G>T (p.Val1705Leu) c.5182G>T (p.Val1728Leu) c.4810G>T (p.Val1604Leu) c.4966G>T (p.Val1656Leu) c.5173G>T (p.Val1725Leu) c.4474G>T (p.Val1492Leu) c.5221G>T (p.Val1741Leu) | |
| 16 | g.3729820C>G | CA394557594 | CREBBP | c.5227G>C (p.Val1743Leu) c.5113G>C (p.Val1705Leu) c.5182G>C (p.Val1728Leu) c.4810G>C (p.Val1604Leu) c.4966G>C (p.Val1656Leu) c.5173G>C (p.Val1725Leu) c.4474G>C (p.Val1492Leu) c.5221G>C (p.Val1741Leu) | |
| 16 | g.3729820C>T | CA394557596 | CREBBP | c.5227G>A (p.Val1743Met) c.5113G>A (p.Val1705Met) c.5182G>A (p.Val1728Met) c.4810G>A (p.Val1604Met) c.4966G>A (p.Val1656Met) c.5173G>A (p.Val1725Met) c.4474G>A (p.Val1492Met) c.5221G>A (p.Val1741Met) | gnomAD v4 |
| 16 | g.3729821C>A | CA394557600 | CREBBP | c.5226G>T (p.Met1742Ile) c.5112G>T (p.Met1704Ile) c.5181G>T (p.Met1727Ile) c.4809G>T (p.Met1603Ile) c.4965G>T (p.Met1655Ile) c.5172G>T (p.Met1724Ile) c.4473G>T (p.Met1491Ile) c.5220G>T (p.Met1740Ile) | dbSNP |
| 16 | g.3729821C>G | CA394557602 | CREBBP | c.5226G>C (p.Met1742Ile) c.5112G>C (p.Met1704Ile) c.5181G>C (p.Met1727Ile) c.4809G>C (p.Met1603Ile) c.4965G>C (p.Met1655Ile) c.5172G>C (p.Met1724Ile) c.4473G>C (p.Met1491Ile) c.5220G>C (p.Met1740Ile) | dbSNP |
| 16 | g.3729821C>T | CA394557598 | CREBBP | c.5226G>A (p.Met1742Ile) c.5112G>A (p.Met1704Ile) c.5181G>A (p.Met1727Ile) c.4809G>A (p.Met1603Ile) c.4965G>A (p.Met1655Ile) c.5172G>A (p.Met1724Ile) c.4473G>A (p.Met1491Ile) c.5220G>A (p.Met1740Ile) | dbSNP |
| 16 | g.3729822A>C | CA394557604 | CREBBP | c.5225T>G (p.Met1742Arg) c.5111T>G (p.Met1704Arg) c.5180T>G (p.Met1727Arg) c.4808T>G (p.Met1603Arg) c.4964T>G (p.Met1655Arg) c.5171T>G (p.Met1724Arg) c.4472T>G (p.Met1491Arg) c.5219T>G (p.Met1740Arg) | |
| 16 | g.3729822A>G | CA394557606 | CREBBP | c.5225T>C (p.Met1742Thr) c.5111T>C (p.Met1704Thr) c.5180T>C (p.Met1727Thr) c.4808T>C (p.Met1603Thr) c.4964T>C (p.Met1655Thr) c.5171T>C (p.Met1724Thr) c.4472T>C (p.Met1491Thr) c.5219T>C (p.Met1740Thr) | |
| 16 | g.3729822A>T | CA394557608 | CREBBP | c.5225T>A (p.Met1742Lys) c.5111T>A (p.Met1704Lys) c.5180T>A (p.Met1727Lys) c.4808T>A (p.Met1603Lys) c.4964T>A (p.Met1655Lys) c.5171T>A (p.Met1724Lys) c.4472T>A (p.Met1491Lys) c.5219T>A (p.Met1740Lys) | dbSNP |
| 16 | g.3729823T>A | CA394557610 | CREBBP | c.5224A>T (p.Met1742Leu) c.5110A>T (p.Met1704Leu) c.5179A>T (p.Met1727Leu) c.4807A>T (p.Met1603Leu) c.4963A>T (p.Met1655Leu) c.5170A>T (p.Met1724Leu) c.4471A>T (p.Met1491Leu) c.5218A>T (p.Met1740Leu) | dbSNP |
| 16 | g.3729823T>C | CA394557611 | CREBBP | c.5224A>G (p.Met1742Val) c.5110A>G (p.Met1704Val) c.5179A>G (p.Met1727Val) c.4807A>G (p.Met1603Val) c.4963A>G (p.Met1655Val) c.5170A>G (p.Met1724Val) c.4471A>G (p.Met1491Val) c.5218A>G (p.Met1740Val) | ClinVar |
| 16 | g.3729823T>G | CA394557612 | CREBBP | c.5224A>C (p.Met1742Leu) c.5110A>C (p.Met1704Leu) c.5179A>C (p.Met1727Leu) c.4807A>C (p.Met1603Leu) c.4963A>C (p.Met1655Leu) c.5170A>C (p.Met1724Leu) c.4471A>C (p.Met1491Leu) c.5218A>C (p.Met1740Leu) | |
| 16 | g.3729824C>A | CA394557614 | CREBBP | c.5223G>T (p.Lys1741Asn) c.5109G>T (p.Lys1703Asn) c.5178G>T (p.Lys1726Asn) c.4806G>T (p.Lys1602Asn) c.4962G>T (p.Lys1654Asn) c.5169G>T (p.Lys1723Asn) c.4470G>T (p.Lys1490Asn) c.5217G>T (p.Lys1739Asn) | |
| 16 | g.3729824C= | CA2202916548 | CREBBP | c.5223G= (p.Lys1741=) c.5109G= (p.Lys1703=) c.5178G= (p.Lys1726=) c.4806G= (p.Lys1602=) c.4962G= (p.Lys1654=) c.5169G= (p.Lys1723=) c.4470G= (p.Lys1490=) c.5217G= (p.Lys1739=) | |
| 16 | g.3729824C>G | CA7869305 | CREBBP | c.5223G>C (p.Lys1741Asn) c.5109G>C (p.Lys1703Asn) c.5178G>C (p.Lys1726Asn) c.4806G>C (p.Lys1602Asn) c.4962G>C (p.Lys1654Asn) c.5169G>C (p.Lys1723Asn) c.4470G>C (p.Lys1490Asn) c.5217G>C (p.Lys1739Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.3729824C>T | CA493394312 | CREBBP | c.5223G>A (p.Lys1741=) c.5109G>A (p.Lys1703=) c.5178G>A (p.Lys1726=) c.4806G>A (p.Lys1602=) c.4962G>A (p.Lys1654=) c.5169G>A (p.Lys1723=) c.4470G>A (p.Lys1490=) c.5217G>A (p.Lys1739=) | |
| 16 | g.3729825T>A | CA394557617 | CREBBP | c.5222A>T (p.Lys1741Met) c.5108A>T (p.Lys1703Met) c.5177A>T (p.Lys1726Met) c.4805A>T (p.Lys1602Met) c.4961A>T (p.Lys1654Met) c.5168A>T (p.Lys1723Met) c.4469A>T (p.Lys1490Met) c.5216A>T (p.Lys1739Met) | dbSNP |
| 16 | g.3729825T>C | CA394557619 | CREBBP | c.5222A>G (p.Lys1741Arg) c.5108A>G (p.Lys1703Arg) c.5177A>G (p.Lys1726Arg) c.4805A>G (p.Lys1602Arg) c.4961A>G (p.Lys1654Arg) c.5168A>G (p.Lys1723Arg) c.4469A>G (p.Lys1490Arg) c.5216A>G (p.Lys1739Arg) | dbSNP |
| 16 | g.3729825T>G | CA394557621 | CREBBP | c.5222A>C (p.Lys1741Thr) c.5108A>C (p.Lys1703Thr) c.5177A>C (p.Lys1726Thr) c.4805A>C (p.Lys1602Thr) c.4961A>C (p.Lys1654Thr) c.5168A>C (p.Lys1723Thr) c.4469A>C (p.Lys1490Thr) c.5216A>C (p.Lys1739Thr) | |
| 16 | g.3729826T>A | CA394557623 | CREBBP | c.5221A>T (p.Lys1741Ter) c.5107A>T (p.Lys1703Ter) c.5176A>T (p.Lys1726Ter) c.4804A>T (p.Lys1602Ter) c.4960A>T (p.Lys1654Ter) c.5167A>T (p.Lys1723Ter) c.4468A>T (p.Lys1490Ter) c.5215A>T (p.Lys1739Ter) | dbSNP |
| 16 | g.3729826T>C | CA276972337 | CREBBP | c.5221A>G (p.Lys1741Glu) c.5107A>G (p.Lys1703Glu) c.5176A>G (p.Lys1726Glu) c.4804A>G (p.Lys1602Glu) c.4960A>G (p.Lys1654Glu) c.5167A>G (p.Lys1723Glu) c.4468A>G (p.Lys1490Glu) c.5215A>G (p.Lys1739Glu) | dbSNP |
| 16 | g.3729826T>G | CA394557625 | CREBBP | c.5221A>C (p.Lys1741Gln) c.5107A>C (p.Lys1703Gln) c.5176A>C (p.Lys1726Gln) c.4804A>C (p.Lys1602Gln) c.4960A>C (p.Lys1654Gln) c.5167A>C (p.Lys1723Gln) c.4468A>C (p.Lys1490Gln) c.5215A>C (p.Lys1739Gln) | |
| 16 | g.3729826T= | CA2202916549 | CREBBP | c.5221A= (p.Lys1741=) c.5107A= (p.Lys1703=) c.5176A= (p.Lys1726=) c.4804A= (p.Lys1602=) c.4960A= (p.Lys1654=) c.5167A= (p.Lys1723=) c.4468A= (p.Lys1490=) c.5215A= (p.Lys1739=) | |
| 16 | g.3729827A>C | CA394557629 | CREBBP | c.5220T>G (p.His1740Gln) c.5106T>G (p.His1702Gln) c.5175T>G (p.His1725Gln) c.4803T>G (p.His1601Gln) c.4959T>G (p.His1653Gln) c.5166T>G (p.His1722Gln) c.4467T>G (p.His1489Gln) c.5214T>G (p.His1738Gln) | dbSNP |
| 16 | g.3729827A>G | CA493394315 | CREBBP | c.5220T>C (p.His1740=) c.5106T>C (p.His1702=) c.5175T>C (p.His1725=) c.4803T>C (p.His1601=) c.4959T>C (p.His1653=) c.5166T>C (p.His1722=) c.4467T>C (p.His1489=) c.5214T>C (p.His1738=) | |
| 16 | g.3729827A>T | CA394557627 | CREBBP | c.5220T>A (p.His1740Gln) c.5106T>A (p.His1702Gln) c.5175T>A (p.His1725Gln) c.4803T>A (p.His1601Gln) c.4959T>A (p.His1653Gln) c.5166T>A (p.His1722Gln) c.4467T>A (p.His1489Gln) c.5214T>A (p.His1738Gln) | dbSNP |
| 16 | g.3729828T>A | CA394557631 | CREBBP | c.5219A>T (p.His1740Leu) c.5105A>T (p.His1702Leu) c.5174A>T (p.His1725Leu) c.4802A>T (p.His1601Leu) c.4958A>T (p.His1653Leu) c.5165A>T (p.His1722Leu) c.4466A>T (p.His1489Leu) c.5213A>T (p.His1738Leu) | |
| 16 | g.3729828T>C | CA394557633 | CREBBP | c.5219A>G (p.His1740Arg) c.5105A>G (p.His1702Arg) c.5174A>G (p.His1725Arg) c.4802A>G (p.His1601Arg) c.4958A>G (p.His1653Arg) c.5165A>G (p.His1722Arg) c.4466A>G (p.His1489Arg) c.5213A>G (p.His1738Arg) | ClinVar dbSNP COSMIC |
| 16 | g.3729828T>G | CA394557635 | CREBBP | c.5219A>C (p.His1740Pro) c.5105A>C (p.His1702Pro) c.5174A>C (p.His1725Pro) c.4802A>C (p.His1601Pro) c.4958A>C (p.His1653Pro) c.5165A>C (p.His1722Pro) c.4466A>C (p.His1489Pro) c.5213A>C (p.His1738Pro) | |
| 16 | g.3729828T= | CA2202916550 | CREBBP | c.5219A= (p.His1740=) c.5105A= (p.His1702=) c.5174A= (p.His1725=) c.4802A= (p.His1601=) c.4958A= (p.His1653=) c.5165A= (p.His1722=) c.4466A= (p.His1489=) c.5213A= (p.His1738=) | |
| 16 | g.3729829G>A | CA394557637 | CREBBP | c.5218C>T (p.His1740Tyr) c.5104C>T (p.His1702Tyr) c.5173C>T (p.His1725Tyr) c.4801C>T (p.His1601Tyr) c.4957C>T (p.His1653Tyr) c.5164C>T (p.His1722Tyr) c.4465C>T (p.His1489Tyr) c.5212C>T (p.His1738Tyr) | gnomAD v4 |
| 16 | g.3729829G>C | CA394557638 | CREBBP | c.5218C>G (p.His1740Asp) c.5104C>G (p.His1702Asp) c.5173C>G (p.His1725Asp) c.4801C>G (p.His1601Asp) c.4957C>G (p.His1653Asp) c.5164C>G (p.His1722Asp) c.4465C>G (p.His1489Asp) c.5212C>G (p.His1738Asp) | |
| 16 | g.3729829G= | CA2202916551 | CREBBP | c.5218C= (p.His1740=) c.5104C= (p.His1702=) c.5173C= (p.His1725=) c.4801C= (p.His1601=) c.4957C= (p.His1653=) c.5164C= (p.His1722=) c.4465C= (p.His1489=) c.5212C= (p.His1738=) | |
| 16 | g.3729829G>T | CA394557640 | CREBBP | c.5218C>A (p.His1740Asn) c.5104C>A (p.His1702Asn) c.5173C>A (p.His1725Asn) c.4801C>A (p.His1601Asn) c.4957C>A (p.His1653Asn) c.5164C>A (p.His1722Asn) c.4465C>A (p.His1489Asn) c.5212C>A (p.His1738Asn) | ClinVar dbSNP gnomAD v4 |
| 16 | g.3729830G>A | CA493394319 | CREBBP | c.5217C>T (p.Ala1739=) c.5103C>T (p.Ala1701=) c.5172C>T (p.Ala1724=) c.4800C>T (p.Ala1600=) c.4956C>T (p.Ala1652=) c.5163C>T (p.Ala1721=) c.4464C>T (p.Ala1488=) c.5211C>T (p.Ala1737=) | dbSNP |
| 16 | g.3729830G>C | CA493394318 | CREBBP | c.5217C>G (p.Ala1739=) c.5103C>G (p.Ala1701=) c.5172C>G (p.Ala1724=) c.4800C>G (p.Ala1600=) c.4956C>G (p.Ala1652=) c.5163C>G (p.Ala1721=) c.4464C>G (p.Ala1488=) c.5211C>G (p.Ala1737=) | dbSNP gnomAD v4 |
| 16 | g.3729830G= | CA2202916552 | CREBBP | c.5217C= (p.Ala1739=) c.5103C= (p.Ala1701=) c.5172C= (p.Ala1724=) c.4800C= (p.Ala1600=) c.4956C= (p.Ala1652=) c.5163C= (p.Ala1721=) c.4464C= (p.Ala1488=) c.5211C= (p.Ala1737=) | |
| 16 | g.3729830G>T | CA493394317 | CREBBP | c.5217C>A (p.Ala1739=) c.5103C>A (p.Ala1701=) c.5172C>A (p.Ala1724=) c.4800C>A (p.Ala1600=) c.4956C>A (p.Ala1652=) c.5163C>A (p.Ala1721=) c.4464C>A (p.Ala1488=) c.5211C>A (p.Ala1737=) | dbSNP |
| 16 | g.3729831G>A | CA394557645 | CREBBP | c.5216C>T (p.Ala1739Val) c.5102C>T (p.Ala1701Val) c.5171C>T (p.Ala1724Val) c.4799C>T (p.Ala1600Val) c.4955C>T (p.Ala1652Val) c.5162C>T (p.Ala1721Val) c.4463C>T (p.Ala1488Val) c.5210C>T (p.Ala1737Val) | dbSNP gnomAD v4 |
| 16 | g.3729831G>C | CA7869306 | CREBBP | c.5216C>G (p.Ala1739Gly) c.5102C>G (p.Ala1701Gly) c.5171C>G (p.Ala1724Gly) c.4799C>G (p.Ala1600Gly) c.4955C>G (p.Ala1652Gly) c.5162C>G (p.Ala1721Gly) c.4463C>G (p.Ala1488Gly) c.5210C>G (p.Ala1737Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.3729831G= | CA2202916553 | CREBBP | c.5216C= (p.Ala1739=) c.5102C= (p.Ala1701=) c.5171C= (p.Ala1724=) c.4799C= (p.Ala1600=) c.4955C= (p.Ala1652=) c.5162C= (p.Ala1721=) c.4463C= (p.Ala1488=) c.5210C= (p.Ala1737=) | |
| 16 | g.3729831G>T | CA394557642 | CREBBP | c.5216C>A (p.Ala1739Asp) c.5102C>A (p.Ala1701Asp) c.5171C>A (p.Ala1724Asp) c.4799C>A (p.Ala1600Asp) c.4955C>A (p.Ala1652Asp) c.5162C>A (p.Ala1721Asp) c.4463C>A (p.Ala1488Asp) c.5210C>A (p.Ala1737Asp) | dbSNP gnomAD v4 |
| 16 | g.3729832C>A | CA394557647 | CREBBP | c.5215G>T (p.Ala1739Ser) c.5101G>T (p.Ala1701Ser) c.5170G>T (p.Ala1724Ser) c.4798G>T (p.Ala1600Ser) c.4954G>T (p.Ala1652Ser) c.5161G>T (p.Ala1721Ser) c.4462G>T (p.Ala1488Ser) c.5209G>T (p.Ala1737Ser) | dbSNP |
| 16 | g.3729832C= | CA2202916554 | CREBBP | c.5215G= (p.Ala1739=) c.5101G= (p.Ala1701=) c.5170G= (p.Ala1724=) c.4798G= (p.Ala1600=) c.4954G= (p.Ala1652=) c.5161G= (p.Ala1721=) c.4462G= (p.Ala1488=) c.5209G= (p.Ala1737=) | |
| 16 | g.3729832C>G | CA394557649 | CREBBP | c.5215G>C (p.Ala1739Pro) c.5101G>C (p.Ala1701Pro) c.5170G>C (p.Ala1724Pro) c.4798G>C (p.Ala1600Pro) c.4954G>C (p.Ala1652Pro) c.5161G>C (p.Ala1721Pro) c.4462G>C (p.Ala1488Pro) c.5209G>C (p.Ala1737Pro) | dbSNP |
| 16 | g.3729832C>T | CA394557651 | CREBBP | c.5215G>A (p.Ala1739Thr) c.5101G>A (p.Ala1701Thr) c.5170G>A (p.Ala1724Thr) c.4798G>A (p.Ala1600Thr) c.4954G>A (p.Ala1652Thr) c.5161G>A (p.Ala1721Thr) c.4462G>A (p.Ala1488Thr) c.5209G>A (p.Ala1737Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.3729833A= | CA2202916555 | CREBBP | c.5214T= (p.His1738=) c.5100T= (p.His1700=) c.5169T= (p.His1723=) c.4797T= (p.His1599=) c.4953T= (p.His1651=) c.5160T= (p.His1720=) c.4461T= (p.His1487=) c.5208T= (p.His1736=) | |
| 16 | g.3729833A>C | CA394557652 | CREBBP | c.5214T>G (p.His1738Gln) c.5100T>G (p.His1700Gln) c.5169T>G (p.His1723Gln) c.4797T>G (p.His1599Gln) c.4953T>G (p.His1651Gln) c.5160T>G (p.His1720Gln) c.4461T>G (p.His1487Gln) c.5208T>G (p.His1736Gln) | |
| 16 | g.3729833A>G | CA7869307 | CREBBP | c.5214T>C (p.His1738=) c.5100T>C (p.His1700=) c.5169T>C (p.His1723=) c.4797T>C (p.His1599=) c.4953T>C (p.His1651=) c.5160T>C (p.His1720=) c.4461T>C (p.His1487=) c.5208T>C (p.His1736=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.3729833A>T | CA394557654 | CREBBP | c.5214T>A (p.His1738Gln) c.5100T>A (p.His1700Gln) c.5169T>A (p.His1723Gln) c.4797T>A (p.His1599Gln) c.4953T>A (p.His1651Gln) c.5160T>A (p.His1720Gln) c.4461T>A (p.His1487Gln) c.5208T>A (p.His1736Gln) | dbSNP |
| 16 | g.3729834T>A | CA394557660 | CREBBP | c.5213A>T (p.His1738Leu) c.5099A>T (p.His1700Leu) c.5168A>T (p.His1723Leu) c.4796A>T (p.His1599Leu) c.4952A>T (p.His1651Leu) c.5159A>T (p.His1720Leu) c.4460A>T (p.His1487Leu) c.5207A>T (p.His1736Leu) | |
| 16 | g.3729834T>C | CA394557656 | CREBBP | c.5213A>G (p.His1738Arg) c.5099A>G (p.His1700Arg) c.5168A>G (p.His1723Arg) c.4796A>G (p.His1599Arg) c.4952A>G (p.His1651Arg) c.5159A>G (p.His1720Arg) c.4460A>G (p.His1487Arg) c.5207A>G (p.His1736Arg) | |
| 16 | g.3729834T>G | CA394557658 | CREBBP | c.5213A>C (p.His1738Pro) c.5099A>C (p.His1700Pro) c.5168A>C (p.His1723Pro) c.4796A>C (p.His1599Pro) c.4952A>C (p.His1651Pro) c.5159A>C (p.His1720Pro) c.4460A>C (p.His1487Pro) c.5207A>C (p.His1736Pro) | |
| 16 | g.3729835G>A | CA394557662 | CREBBP | c.5212C>T (p.His1738Tyr) c.5098C>T (p.His1700Tyr) c.5167C>T (p.His1723Tyr) c.4795C>T (p.His1599Tyr) c.4951C>T (p.His1651Tyr) c.5158C>T (p.His1720Tyr) c.4459C>T (p.His1487Tyr) c.5206C>T (p.His1736Tyr) | dbSNP |
| 16 | g.3729835G>C | CA394557663 | CREBBP | c.5212C>G (p.His1738Asp) c.5098C>G (p.His1700Asp) c.5167C>G (p.His1723Asp) c.4795C>G (p.His1599Asp) c.4951C>G (p.His1651Asp) c.5158C>G (p.His1720Asp) c.4459C>G (p.His1487Asp) c.5206C>G (p.His1736Asp) | dbSNP |
| 16 | g.3729835G>T | CA394557664 | CREBBP | c.5212C>A (p.His1738Asn) c.5098C>A (p.His1700Asn) c.5167C>A (p.His1723Asn) c.4795C>A (p.His1599Asn) c.4951C>A (p.His1651Asn) c.5158C>A (p.His1720Asn) c.4459C>A (p.His1487Asn) c.5206C>A (p.His1736Asn) | |
| 16 | g.3729836G>A | CA493394323 | CREBBP | c.5211C>T (p.Ser1737=) c.5097C>T (p.Ser1699=) c.5166C>T (p.Ser1722=) c.4794C>T (p.Ser1598=) c.4950C>T (p.Ser1650=) c.5157C>T (p.Ser1719=) c.4458C>T (p.Ser1486=) c.5205C>T (p.Ser1735=) | dbSNP gnomAD v4 |
| 16 | g.3729836G>C | CA394557666 | CREBBP | c.5211C>G (p.Ser1737Arg) c.5097C>G (p.Ser1699Arg) c.5166C>G (p.Ser1722Arg) c.4794C>G (p.Ser1598Arg) c.4950C>G (p.Ser1650Arg) c.5157C>G (p.Ser1719Arg) c.4458C>G (p.Ser1486Arg) c.5205C>G (p.Ser1735Arg) | dbSNP gnomAD v4 |
| 16 | g.3729836G>T | CA394557668 | CREBBP | c.5211C>A (p.Ser1737Arg) c.5097C>A (p.Ser1699Arg) c.5166C>A (p.Ser1722Arg) c.4794C>A (p.Ser1598Arg) c.4950C>A (p.Ser1650Arg) c.5157C>A (p.Ser1719Arg) c.4458C>A (p.Ser1486Arg) c.5205C>A (p.Ser1735Arg) | dbSNP gnomAD v4 |
| 16 | g.3729837C>A | CA394557670 | CREBBP | c.5210G>T (p.Ser1737Ile) c.5096G>T (p.Ser1699Ile) c.5165G>T (p.Ser1722Ile) c.4793G>T (p.Ser1598Ile) c.4949G>T (p.Ser1650Ile) c.5156G>T (p.Ser1719Ile) c.4457G>T (p.Ser1486Ile) c.5204G>T (p.Ser1735Ile) | |
| 16 | g.3729837C= | CA2202916556 | CREBBP | c.5210G= (p.Ser1737=) c.5096G= (p.Ser1699=) c.5165G= (p.Ser1722=) c.4793G= (p.Ser1598=) c.4949G= (p.Ser1650=) c.5156G= (p.Ser1719=) c.4457G= (p.Ser1486=) c.5204G= (p.Ser1735=) | |
| 16 | g.3729837C>G | CA394557672 | CREBBP | c.5210G>C (p.Ser1737Thr) c.5096G>C (p.Ser1699Thr) c.5165G>C (p.Ser1722Thr) c.4793G>C (p.Ser1598Thr) c.4949G>C (p.Ser1650Thr) c.5156G>C (p.Ser1719Thr) c.4457G>C (p.Ser1486Thr) c.5204G>C (p.Ser1735Thr) | dbSNP |
| 16 | g.3729837C>T | CA7869308 | CREBBP | c.5210G>A (p.Ser1737Asn) c.5096G>A (p.Ser1699Asn) c.5165G>A (p.Ser1722Asn) c.4793G>A (p.Ser1598Asn) c.4949G>A (p.Ser1650Asn) c.5156G>A (p.Ser1719Asn) c.4457G>A (p.Ser1486Asn) c.5204G>A (p.Ser1735Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.3729838T>A | CA7869309 | CREBBP | c.5209A>T (p.Ser1737Cys) c.5095A>T (p.Ser1699Cys) c.5164A>T (p.Ser1722Cys) c.4792A>T (p.Ser1598Cys) c.4948A>T (p.Ser1650Cys) c.5155A>T (p.Ser1719Cys) c.4456A>T (p.Ser1486Cys) c.5203A>T (p.Ser1735Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.3729838T>C | CA394557676 | CREBBP | c.5209A>G (p.Ser1737Gly) c.5095A>G (p.Ser1699Gly) c.5164A>G (p.Ser1722Gly) c.4792A>G (p.Ser1598Gly) c.4948A>G (p.Ser1650Gly) c.5155A>G (p.Ser1719Gly) c.4456A>G (p.Ser1486Gly) c.5203A>G (p.Ser1735Gly) | dbSNP |
| 16 | g.3729838T>G | CA394557678 | CREBBP | c.5209A>C (p.Ser1737Arg) c.5095A>C (p.Ser1699Arg) c.5164A>C (p.Ser1722Arg) c.4792A>C (p.Ser1598Arg) c.4948A>C (p.Ser1650Arg) c.5155A>C (p.Ser1719Arg) c.4456A>C (p.Ser1486Arg) c.5203A>C (p.Ser1735Arg) | gnomAD v4 |
| 16 | g.3729838T= | CA2202916557 | CREBBP | c.5209A= (p.Ser1737=) c.5095A= (p.Ser1699=) c.5164A= (p.Ser1722=) c.4792A= (p.Ser1598=) c.4948A= (p.Ser1650=) c.5155A= (p.Ser1719=) c.4456A= (p.Ser1486=) c.5203A= (p.Ser1735=) | |
| 16 | g.3729839C>A | CA394557680 | CREBBP | c.5208G>T (p.Lys1736Asn) c.5094G>T (p.Lys1698Asn) c.5163G>T (p.Lys1721Asn) c.4791G>T (p.Lys1597Asn) c.4947G>T (p.Lys1649Asn) c.5154G>T (p.Lys1718Asn) c.4455G>T (p.Lys1485Asn) c.5202G>T (p.Lys1734Asn) | |
| 16 | g.3729839C>G | CA394557682 | CREBBP | c.5208G>C (p.Lys1736Asn) c.5094G>C (p.Lys1698Asn) c.5163G>C (p.Lys1721Asn) c.4791G>C (p.Lys1597Asn) c.4947G>C (p.Lys1649Asn) c.5154G>C (p.Lys1718Asn) c.4455G>C (p.Lys1485Asn) c.5202G>C (p.Lys1734Asn) | ClinVar dbSNP |
| 16 | g.3729839C>T | CA493394328 | CREBBP | c.5208G>A (p.Lys1736=) c.5094G>A (p.Lys1698=) c.5163G>A (p.Lys1721=) c.4791G>A (p.Lys1597=) c.4947G>A (p.Lys1649=) c.5154G>A (p.Lys1718=) c.4455G>A (p.Lys1485=) c.5202G>A (p.Lys1734=) | dbSNP gnomAD v4 |
| 16 | g.3729840T>A | CA394557687 | CREBBP | c.5207A>T (p.Lys1736Met) c.5093A>T (p.Lys1698Met) c.5162A>T (p.Lys1721Met) c.4790A>T (p.Lys1597Met) c.4946A>T (p.Lys1649Met) c.5153A>T (p.Lys1718Met) c.4454A>T (p.Lys1485Met) c.5201A>T (p.Lys1734Met) | dbSNP |
| 16 | g.3729840T>C | CA394557684 | CREBBP | c.5207A>G (p.Lys1736Arg) c.5093A>G (p.Lys1698Arg) c.5162A>G (p.Lys1721Arg) c.4790A>G (p.Lys1597Arg) c.4946A>G (p.Lys1649Arg) c.5153A>G (p.Lys1718Arg) c.4454A>G (p.Lys1485Arg) c.5201A>G (p.Lys1734Arg) | dbSNP |
| 16 | g.3729840T>G | CA394557685 | CREBBP | c.5207A>C (p.Lys1736Thr) c.5093A>C (p.Lys1698Thr) c.5162A>C (p.Lys1721Thr) c.4790A>C (p.Lys1597Thr) c.4946A>C (p.Lys1649Thr) c.5153A>C (p.Lys1718Thr) c.4454A>C (p.Lys1485Thr) c.5201A>C (p.Lys1734Thr) | |
| 16 | g.3729841T>A | CA394557689 | CREBBP | c.5206A>T (p.Lys1736Ter) c.5092A>T (p.Lys1698Ter) c.5161A>T (p.Lys1721Ter) c.4789A>T (p.Lys1597Ter) c.4945A>T (p.Lys1649Ter) c.5152A>T (p.Lys1718Ter) c.4453A>T (p.Lys1485Ter) c.5200A>T (p.Lys1734Ter) | dbSNP |
| 16 | g.3729841T>C | CA394557691 | CREBBP | c.5206A>G (p.Lys1736Glu) c.5092A>G (p.Lys1698Glu) c.5161A>G (p.Lys1721Glu) c.4789A>G (p.Lys1597Glu) c.4945A>G (p.Lys1649Glu) c.5152A>G (p.Lys1718Glu) c.4453A>G (p.Lys1485Glu) c.5200A>G (p.Lys1734Glu) | |
| 16 | g.3729841T>G | CA394557693 | CREBBP | c.5206A>C (p.Lys1736Gln) c.5092A>C (p.Lys1698Gln) c.5161A>C (p.Lys1721Gln) c.4789A>C (p.Lys1597Gln) c.4945A>C (p.Lys1649Gln) c.5152A>C (p.Lys1718Gln) c.4453A>C (p.Lys1485Gln) c.5200A>C (p.Lys1734Gln) | |
| 16 | g.3729842C>A | CA7869311 | CREBBP | c.5205G>T (p.Thr1735=) c.5091G>T (p.Thr1697=) c.5160G>T (p.Thr1720=) c.4788G>T (p.Thr1596=) c.4944G>T (p.Thr1648=) c.5151G>T (p.Thr1717=) c.4452G>T (p.Thr1484=) c.5199G>T (p.Thr1733=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.3729842C= | CA2202916558 | CREBBP | c.5205G= (p.Thr1735=) c.5091G= (p.Thr1697=) c.5160G= (p.Thr1720=) c.4788G= (p.Thr1596=) c.4944G= (p.Thr1648=) c.5151G= (p.Thr1717=) c.4452G= (p.Thr1484=) c.5199G= (p.Thr1733=) | |
| 16 | g.3729842C>G | CA7869310 | CREBBP | c.5205G>C (p.Thr1735=) c.5091G>C (p.Thr1697=) c.5160G>C (p.Thr1720=) c.4788G>C (p.Thr1596=) c.4944G>C (p.Thr1648=) c.5151G>C (p.Thr1717=) c.4452G>C (p.Thr1484=) c.5199G>C (p.Thr1733=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.3729842C>T | CA493394333 | CREBBP | c.5205G>A (p.Thr1735=) c.5091G>A (p.Thr1697=) c.5160G>A (p.Thr1720=) c.4788G>A (p.Thr1596=) c.4944G>A (p.Thr1648=) c.5151G>A (p.Thr1717=) c.4452G>A (p.Thr1484=) c.5199G>A (p.Thr1733=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 16 | g.3729843G>A | CA16620202 | CREBBP | c.5204C>T (p.Thr1735Met) c.5090C>T (p.Thr1697Met) c.5159C>T (p.Thr1720Met) c.4787C>T (p.Thr1596Met) c.4943C>T (p.Thr1648Met) c.5150C>T (p.Thr1717Met) c.4451C>T (p.Thr1484Met) c.5198C>T (p.Thr1733Met) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 16 | g.3729843G>C | CA394557697 | CREBBP | c.5204C>G (p.Thr1735Arg) c.5090C>G (p.Thr1697Arg) c.5159C>G (p.Thr1720Arg) c.4787C>G (p.Thr1596Arg) c.4943C>G (p.Thr1648Arg) c.5150C>G (p.Thr1717Arg) c.4451C>G (p.Thr1484Arg) c.5198C>G (p.Thr1733Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.3729843G= | CA2202916559 | CREBBP | c.5204C= (p.Thr1735=) c.5090C= (p.Thr1697=) c.5159C= (p.Thr1720=) c.4787C= (p.Thr1596=) c.4943C= (p.Thr1648=) c.5150C= (p.Thr1717=) c.4451C= (p.Thr1484=) c.5198C= (p.Thr1733=) | |
| 16 | g.3729843G>T | CA394557699 | CREBBP | c.5204C>A (p.Thr1735Lys) c.5090C>A (p.Thr1697Lys) c.5159C>A (p.Thr1720Lys) c.4787C>A (p.Thr1596Lys) c.4943C>A (p.Thr1648Lys) c.5150C>A (p.Thr1717Lys) c.4451C>A (p.Thr1484Lys) c.5198C>A (p.Thr1733Lys) | dbSNP gnomAD v4 |
| 16 | g.3729844T>A | CA394557701 | CREBBP | c.5203A>T (p.Thr1735Ser) c.5089A>T (p.Thr1697Ser) c.5158A>T (p.Thr1720Ser) c.4786A>T (p.Thr1596Ser) c.4942A>T (p.Thr1648Ser) c.5149A>T (p.Thr1717Ser) c.4450A>T (p.Thr1484Ser) c.5197A>T (p.Thr1733Ser) | dbSNP |
| 16 | g.3729844T>C | CA394557703 | CREBBP | c.5203A>G (p.Thr1735Ala) c.5089A>G (p.Thr1697Ala) c.5158A>G (p.Thr1720Ala) c.4786A>G (p.Thr1596Ala) c.4942A>G (p.Thr1648Ala) c.5149A>G (p.Thr1717Ala) c.4450A>G (p.Thr1484Ala) c.5197A>G (p.Thr1733Ala) | |
| 16 | g.3729844T>G | CA394557704 | CREBBP | c.5203A>C (p.Thr1735Pro) c.5089A>C (p.Thr1697Pro) c.5158A>C (p.Thr1720Pro) c.4786A>C (p.Thr1596Pro) c.4942A>C (p.Thr1648Pro) c.5149A>C (p.Thr1717Pro) c.4450A>C (p.Thr1484Pro) c.5197A>C (p.Thr1733Pro) | |
| 16 | g.3729845G>A | CA493394338 | CREBBP | c.5202C>T (p.Asn1734=) c.5088C>T (p.Asn1696=) c.5157C>T (p.Asn1719=) c.4785C>T (p.Asn1595=) c.4941C>T (p.Asn1647=) c.5148C>T (p.Asn1716=) c.4449C>T (p.Asn1483=) c.5196C>T (p.Asn1732=) | |
| 16 | g.3729845G>C | CA394557707 | CREBBP | c.5202C>G (p.Asn1734Lys) c.5088C>G (p.Asn1696Lys) c.5157C>G (p.Asn1719Lys) c.4785C>G (p.Asn1595Lys) c.4941C>G (p.Asn1647Lys) c.5148C>G (p.Asn1716Lys) c.4449C>G (p.Asn1483Lys) c.5196C>G (p.Asn1732Lys) | |
| 16 | g.3729845G>T | CA394557708 | CREBBP | c.5202C>A (p.Asn1734Lys) c.5088C>A (p.Asn1696Lys) c.5157C>A (p.Asn1719Lys) c.4785C>A (p.Asn1595Lys) c.4941C>A (p.Asn1647Lys) c.5148C>A (p.Asn1716Lys) c.4449C>A (p.Asn1483Lys) c.5196C>A (p.Asn1732Lys) | gnomAD v4 |
| 16 | g.3729846T>A | CA394557714 | CREBBP | c.5201A>T (p.Asn1734Ile) c.5087A>T (p.Asn1696Ile) c.5156A>T (p.Asn1719Ile) c.4784A>T (p.Asn1595Ile) c.4940A>T (p.Asn1647Ile) c.5147A>T (p.Asn1716Ile) c.4448A>T (p.Asn1483Ile) c.5195A>T (p.Asn1732Ile) | dbSNP |
| 16 | g.3729846T>C | CA394557712 | CREBBP | c.5201A>G (p.Asn1734Ser) c.5087A>G (p.Asn1696Ser) c.5156A>G (p.Asn1719Ser) c.4784A>G (p.Asn1595Ser) c.4940A>G (p.Asn1647Ser) c.5147A>G (p.Asn1716Ser) c.4448A>G (p.Asn1483Ser) c.5195A>G (p.Asn1732Ser) | dbSNP |
| 16 | g.3729846T>G | CA394557710 | CREBBP | c.5201A>C (p.Asn1734Thr) c.5087A>C (p.Asn1696Thr) c.5156A>C (p.Asn1719Thr) c.4784A>C (p.Asn1595Thr) c.4940A>C (p.Asn1647Thr) c.5147A>C (p.Asn1716Thr) c.4448A>C (p.Asn1483Thr) c.5195A>C (p.Asn1732Thr) | ClinVar gnomAD v4 |
| 16 | g.3729847T>A | CA394557716 | CREBBP | c.5200A>T (p.Asn1734Tyr) c.5086A>T (p.Asn1696Tyr) c.5155A>T (p.Asn1719Tyr) c.4783A>T (p.Asn1595Tyr) c.4939A>T (p.Asn1647Tyr) c.5146A>T (p.Asn1716Tyr) c.4447A>T (p.Asn1483Tyr) c.5194A>T (p.Asn1732Tyr) | dbSNP |
| 16 | g.3729847T>C | CA7869312 | CREBBP | c.5200A>G (p.Asn1734Asp) c.5086A>G (p.Asn1696Asp) c.5155A>G (p.Asn1719Asp) c.4783A>G (p.Asn1595Asp) c.4939A>G (p.Asn1647Asp) c.5146A>G (p.Asn1716Asp) c.4447A>G (p.Asn1483Asp) c.5194A>G (p.Asn1732Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.3729847T>G | CA394557719 | CREBBP | c.5200A>C (p.Asn1734His) c.5086A>C (p.Asn1696His) c.5155A>C (p.Asn1719His) c.4783A>C (p.Asn1595His) c.4939A>C (p.Asn1647His) c.5146A>C (p.Asn1716His) c.4447A>C (p.Asn1483His) c.5194A>C (p.Asn1732His) | |
| 16 | g.3729847T= | CA2202916562 | CREBBP | c.5200A= (p.Asn1734=) c.5086A= (p.Asn1696=) c.5155A= (p.Asn1719=) c.4783A= (p.Asn1595=) c.4939A= (p.Asn1647=) c.5146A= (p.Asn1716=) c.4447A= (p.Asn1483=) c.5194A= (p.Asn1732=) | |
| 16 | g.3729848A= | CA2202916563 | CREBBP | c.5199T= (p.Tyr1733=) c.5085T= (p.Tyr1695=) c.5154T= (p.Tyr1718=) c.4782T= (p.Tyr1594=) c.4938T= (p.Tyr1646=) c.5145T= (p.Tyr1715=) c.4446T= (p.Tyr1482=) c.5193T= (p.Tyr1731=) | |
| 16 | g.3729848A>C | CA394557721 | CREBBP | c.5199T>G (p.Tyr1733Ter) c.5085T>G (p.Tyr1695Ter) c.5154T>G (p.Tyr1718Ter) c.4782T>G (p.Tyr1594Ter) c.4938T>G (p.Tyr1646Ter) c.5145T>G (p.Tyr1715Ter) c.4446T>G (p.Tyr1482Ter) c.5193T>G (p.Tyr1731Ter) | |
| 16 | g.3729848A>G | CA493394342 | CREBBP | c.5199T>C (p.Tyr1733=) c.5085T>C (p.Tyr1695=) c.5154T>C (p.Tyr1718=) c.4782T>C (p.Tyr1594=) c.4938T>C (p.Tyr1646=) c.5145T>C (p.Tyr1715=) c.4446T>C (p.Tyr1482=) c.5193T>C (p.Tyr1731=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.3729848A>T | CA394557722 | CREBBP | c.5199T>A (p.Tyr1733Ter) c.5085T>A (p.Tyr1695Ter) c.5154T>A (p.Tyr1718Ter) c.4782T>A (p.Tyr1594Ter) c.4938T>A (p.Tyr1646Ter) c.5145T>A (p.Tyr1715Ter) c.4446T>A (p.Tyr1482Ter) c.5193T>A (p.Tyr1731Ter) | dbSNP |
| 16 | g.3729849T>A | CA394557724 | CREBBP | c.5198A>T (p.Tyr1733Phe) c.5084A>T (p.Tyr1695Phe) c.5153A>T (p.Tyr1718Phe) c.4781A>T (p.Tyr1594Phe) c.4937A>T (p.Tyr1646Phe) c.5144A>T (p.Tyr1715Phe) c.4445A>T (p.Tyr1482Phe) c.5192A>T (p.Tyr1731Phe) | dbSNP |
| 16 | g.3729849T>C | CA394557726 | CREBBP | c.5198A>G (p.Tyr1733Cys) c.5084A>G (p.Tyr1695Cys) c.5153A>G (p.Tyr1718Cys) c.4781A>G (p.Tyr1594Cys) c.4937A>G (p.Tyr1646Cys) c.5144A>G (p.Tyr1715Cys) c.4445A>G (p.Tyr1482Cys) c.5192A>G (p.Tyr1731Cys) | gnomAD v4 |
| 16 | g.3729849T>G | CA394557728 | CREBBP | c.5198A>C (p.Tyr1733Ser) c.5084A>C (p.Tyr1695Ser) c.5153A>C (p.Tyr1718Ser) c.4781A>C (p.Tyr1594Ser) c.4937A>C (p.Tyr1646Ser) c.5144A>C (p.Tyr1715Ser) c.4445A>C (p.Tyr1482Ser) c.5192A>C (p.Tyr1731Ser) | dbSNP |
| 16 | g.3729850A>C | CA394557730 | CREBBP | c.5197T>G (p.Tyr1733Asp) c.5083T>G (p.Tyr1695Asp) c.5152T>G (p.Tyr1718Asp) c.4780T>G (p.Tyr1594Asp) c.4936T>G (p.Tyr1646Asp) c.5143T>G (p.Tyr1715Asp) c.4444T>G (p.Tyr1482Asp) c.5191T>G (p.Tyr1731Asp) | |
| 16 | g.3729850A>G | CA394557732 | CREBBP | c.5197T>C (p.Tyr1733His) c.5083T>C (p.Tyr1695His) c.5152T>C (p.Tyr1718His) c.4780T>C (p.Tyr1594His) c.4936T>C (p.Tyr1646His) c.5143T>C (p.Tyr1715His) c.4444T>C (p.Tyr1482His) c.5191T>C (p.Tyr1731His) | dbSNP |
| 16 | g.3729850A>T | CA394557734 | CREBBP | c.5197T>A (p.Tyr1733Asn) c.5083T>A (p.Tyr1695Asn) c.5152T>A (p.Tyr1718Asn) c.4780T>A (p.Tyr1594Asn) c.4936T>A (p.Tyr1646Asn) c.5143T>A (p.Tyr1715Asn) c.4444T>A (p.Tyr1482Asn) c.5191T>A (p.Tyr1731Asn) | |
| 16 | g.3729851G>A | CA493394345 | CREBBP | c.5196C>T (p.Cys1732=) c.5082C>T (p.Cys1694=) c.5151C>T (p.Cys1717=) c.4779C>T (p.Cys1593=) c.4935C>T (p.Cys1645=) c.5142C>T (p.Cys1714=) c.4443C>T (p.Cys1481=) c.5190C>T (p.Cys1730=) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.3729851G>C | CA394557736 | CREBBP | c.5196C>G (p.Cys1732Trp) c.5082C>G (p.Cys1694Trp) c.5151C>G (p.Cys1717Trp) c.4779C>G (p.Cys1593Trp) c.4935C>G (p.Cys1645Trp) c.5142C>G (p.Cys1714Trp) c.4443C>G (p.Cys1481Trp) c.5190C>G (p.Cys1730Trp) | dbSNP |
| 16 | g.3729851G= | CA2202916566 | CREBBP | c.5196C= (p.Cys1732=) c.5082C= (p.Cys1694=) c.5151C= (p.Cys1717=) c.4779C= (p.Cys1593=) c.4935C= (p.Cys1645=) c.5142C= (p.Cys1714=) c.4443C= (p.Cys1481=) c.5190C= (p.Cys1730=) | |
| 16 | g.3729851G>T | CA394557738 | CREBBP | c.5196C>A (p.Cys1732Ter) c.5082C>A (p.Cys1694Ter) c.5151C>A (p.Cys1717Ter) c.4779C>A (p.Cys1593Ter) c.4935C>A (p.Cys1645Ter) c.5142C>A (p.Cys1714Ter) c.4443C>A (p.Cys1481Ter) c.5190C>A (p.Cys1730Ter) | dbSNP gnomAD v4 |
| 16 | g.3729852C>A | CA394557742 | CREBBP | c.5195G>T (p.Cys1732Phe) c.5081G>T (p.Cys1694Phe) c.5150G>T (p.Cys1717Phe) c.4778G>T (p.Cys1593Phe) c.4934G>T (p.Cys1645Phe) c.5141G>T (p.Cys1714Phe) c.4442G>T (p.Cys1481Phe) c.5189G>T (p.Cys1730Phe) | dbSNP |
| 16 | g.3729852C>G | CA394557744 | CREBBP | c.5195G>C (p.Cys1732Ser) c.5081G>C (p.Cys1694Ser) c.5150G>C (p.Cys1717Ser) c.4778G>C (p.Cys1593Ser) c.4934G>C (p.Cys1645Ser) c.5141G>C (p.Cys1714Ser) c.4442G>C (p.Cys1481Ser) c.5189G>C (p.Cys1730Ser) | dbSNP |
| 16 | g.3729852C>T | CA394557740 | CREBBP | c.5195G>A (p.Cys1732Tyr) c.5081G>A (p.Cys1694Tyr) c.5150G>A (p.Cys1717Tyr) c.4778G>A (p.Cys1593Tyr) c.4934G>A (p.Cys1645Tyr) c.5141G>A (p.Cys1714Tyr) c.4442G>A (p.Cys1481Tyr) c.5189G>A (p.Cys1730Tyr) | dbSNP gnomAD v4 |
| 16 | g.3729853A>C | CA394557746 | CREBBP | c.5194T>G (p.Cys1732Gly) c.5080T>G (p.Cys1694Gly) c.5149T>G (p.Cys1717Gly) c.4777T>G (p.Cys1593Gly) c.4933T>G (p.Cys1645Gly) c.5140T>G (p.Cys1714Gly) c.4441T>G (p.Cys1481Gly) c.5188T>G (p.Cys1730Gly) | |
| 16 | g.3729853A>G | CA394557748 | CREBBP | c.5194T>C (p.Cys1732Arg) c.5080T>C (p.Cys1694Arg) c.5149T>C (p.Cys1717Arg) c.4777T>C (p.Cys1593Arg) c.4933T>C (p.Cys1645Arg) c.5140T>C (p.Cys1714Arg) c.4441T>C (p.Cys1481Arg) c.5188T>C (p.Cys1730Arg) | |
| 16 | g.3729853A>T | CA394557750 | CREBBP | c.5194T>A (p.Cys1732Ser) c.5080T>A (p.Cys1694Ser) c.5149T>A (p.Cys1717Ser) c.4777T>A (p.Cys1593Ser) c.4933T>A (p.Cys1645Ser) c.5140T>A (p.Cys1714Ser) c.4441T>A (p.Cys1481Ser) c.5188T>A (p.Cys1730Ser) | dbSNP |
| 16 | g.3729854G>A | CA493394349 | CREBBP | c.5193C>T (p.Asn1731=) c.5079C>T (p.Asn1693=) c.5148C>T (p.Asn1716=) c.4776C>T (p.Asn1592=) c.4932C>T (p.Asn1644=) c.5139C>T (p.Asn1713=) c.4440C>T (p.Asn1480=) c.5187C>T (p.Asn1729=) | dbSNP |
| 16 | g.3729854G>C | CA394557752 | CREBBP | c.5193C>G (p.Asn1731Lys) c.5079C>G (p.Asn1693Lys) c.5148C>G (p.Asn1716Lys) c.4776C>G (p.Asn1592Lys) c.4932C>G (p.Asn1644Lys) c.5139C>G (p.Asn1713Lys) c.4440C>G (p.Asn1480Lys) c.5187C>G (p.Asn1729Lys) | dbSNP |
| 16 | g.3729854G>T | CA394557753 | CREBBP | c.5193C>A (p.Asn1731Lys) c.5079C>A (p.Asn1693Lys) c.5148C>A (p.Asn1716Lys) c.4776C>A (p.Asn1592Lys) c.4932C>A (p.Asn1644Lys) c.5139C>A (p.Asn1713Lys) c.4440C>A (p.Asn1480Lys) c.5187C>A (p.Asn1729Lys) | dbSNP gnomAD v4 |
| 16 | g.3729855T>A | CA394557755 | CREBBP | c.5192A>T (p.Asn1731Ile) c.5078A>T (p.Asn1693Ile) c.5147A>T (p.Asn1716Ile) c.4775A>T (p.Asn1592Ile) c.4931A>T (p.Asn1644Ile) c.5138A>T (p.Asn1713Ile) c.4439A>T (p.Asn1480Ile) c.5186A>T (p.Asn1729Ile) | dbSNP |
| 16 | g.3729855T>C | CA394557757 | CREBBP | c.5192A>G (p.Asn1731Ser) c.5078A>G (p.Asn1693Ser) c.5147A>G (p.Asn1716Ser) c.4775A>G (p.Asn1592Ser) c.4931A>G (p.Asn1644Ser) c.5138A>G (p.Asn1713Ser) c.4439A>G (p.Asn1480Ser) c.5186A>G (p.Asn1729Ser) | dbSNP |
| 16 | g.3729855T>G | CA7869313 | CREBBP | c.5192A>C (p.Asn1731Thr) c.5078A>C (p.Asn1693Thr) c.5147A>C (p.Asn1716Thr) c.4775A>C (p.Asn1592Thr) c.4931A>C (p.Asn1644Thr) c.5138A>C (p.Asn1713Thr) c.4439A>C (p.Asn1480Thr) c.5186A>C (p.Asn1729Thr) | dbSNP ExAC |
| 16 | g.3729855T= | CA2202916569 | CREBBP | c.5192A= (p.Asn1731=) c.5078A= (p.Asn1693=) c.5147A= (p.Asn1716=) c.4775A= (p.Asn1592=) c.4931A= (p.Asn1644=) c.5138A= (p.Asn1713=) c.4439A= (p.Asn1480=) c.5186A= (p.Asn1729=) | |
| 16 | g.3729856T>A | CA394557760 | CREBBP | c.5191A>T (p.Asn1731Tyr) c.5077A>T (p.Asn1693Tyr) c.5146A>T (p.Asn1716Tyr) c.4774A>T (p.Asn1592Tyr) c.4930A>T (p.Asn1644Tyr) c.5137A>T (p.Asn1713Tyr) c.4438A>T (p.Asn1480Tyr) c.5185A>T (p.Asn1729Tyr) | dbSNP gnomAD v4 |
| 16 | g.3729856T>C | CA394557764 | CREBBP | c.5191A>G (p.Asn1731Asp) c.5077A>G (p.Asn1693Asp) c.5146A>G (p.Asn1716Asp) c.4774A>G (p.Asn1592Asp) c.4930A>G (p.Asn1644Asp) c.5137A>G (p.Asn1713Asp) c.4438A>G (p.Asn1480Asp) c.5185A>G (p.Asn1729Asp) | gnomAD v4 |
| 16 | g.3729856T>G | CA394557762 | CREBBP | c.5191A>C (p.Asn1731His) c.5077A>C (p.Asn1693His) c.5146A>C (p.Asn1716His) c.4774A>C (p.Asn1592His) c.4930A>C (p.Asn1644His) c.5137A>C (p.Asn1713His) c.4438A>C (p.Asn1480His) c.5185A>C (p.Asn1729His) | |
| 16 | g.3729857G>A | CA493394351 | CREBBP | c.5190C>T (p.Ile1730=) c.5076C>T (p.Ile1692=) c.5145C>T (p.Ile1715=) c.4773C>T (p.Ile1591=) c.4929C>T (p.Ile1643=) c.5136C>T (p.Ile1712=) c.4437C>T (p.Ile1479=) c.5184C>T (p.Ile1728=) | |
| 16 | g.3729857G>C | CA394557766 | CREBBP | c.5190C>G (p.Ile1730Met) c.5076C>G (p.Ile1692Met) c.5145C>G (p.Ile1715Met) c.4773C>G (p.Ile1591Met) c.4929C>G (p.Ile1643Met) c.5136C>G (p.Ile1712Met) c.4437C>G (p.Ile1479Met) c.5184C>G (p.Ile1728Met) | dbSNP |
| 16 | g.3729857G>T | CA493394353 | CREBBP | c.5190C>A (p.Ile1730=) c.5076C>A (p.Ile1692=) c.5145C>A (p.Ile1715=) c.4773C>A (p.Ile1591=) c.4929C>A (p.Ile1643=) c.5136C>A (p.Ile1712=) c.4437C>A (p.Ile1479=) c.5184C>A (p.Ile1728=) | gnomAD v4 |
| 16 | g.3729858A>C | CA394557768 | CREBBP | c.5189T>G (p.Ile1730Ser) c.5075T>G (p.Ile1692Ser) c.5144T>G (p.Ile1715Ser) c.4772T>G (p.Ile1591Ser) c.4928T>G (p.Ile1643Ser) c.5135T>G (p.Ile1712Ser) c.4436T>G (p.Ile1479Ser) c.5183T>G (p.Ile1728Ser) | |
| 16 | g.3729858A>G | CA394557770 | CREBBP | c.5189T>C (p.Ile1730Thr) c.5075T>C (p.Ile1692Thr) c.5144T>C (p.Ile1715Thr) c.4772T>C (p.Ile1591Thr) c.4928T>C (p.Ile1643Thr) c.5135T>C (p.Ile1712Thr) c.4436T>C (p.Ile1479Thr) c.5183T>C (p.Ile1728Thr) | |
| 16 | g.3729858A>T | CA394557772 | CREBBP | c.5189T>A (p.Ile1730Asn) c.5075T>A (p.Ile1692Asn) c.5144T>A (p.Ile1715Asn) c.4772T>A (p.Ile1591Asn) c.4928T>A (p.Ile1643Asn) c.5135T>A (p.Ile1712Asn) c.4436T>A (p.Ile1479Asn) c.5183T>A (p.Ile1728Asn) | dbSNP gnomAD v4 |
| 16 | g.3729859T>A | CA394557774 | CREBBP | c.5188A>T (p.Ile1730Phe) c.5074A>T (p.Ile1692Phe) c.5143A>T (p.Ile1715Phe) c.4771A>T (p.Ile1591Phe) c.4927A>T (p.Ile1643Phe) c.5134A>T (p.Ile1712Phe) c.4435A>T (p.Ile1479Phe) c.5182A>T (p.Ile1728Phe) | dbSNP |
| 16 | g.3729859T>C | CA394557777 | CREBBP | c.5188A>G (p.Ile1730Val) c.5074A>G (p.Ile1692Val) c.5143A>G (p.Ile1715Val) c.4771A>G (p.Ile1591Val) c.4927A>G (p.Ile1643Val) c.5134A>G (p.Ile1712Val) c.4435A>G (p.Ile1479Val) c.5182A>G (p.Ile1728Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.3729859T>G | CA394557776 | CREBBP | c.5188A>C (p.Ile1730Leu) c.5074A>C (p.Ile1692Leu) c.5143A>C (p.Ile1715Leu) c.4771A>C (p.Ile1591Leu) c.4927A>C (p.Ile1643Leu) c.5134A>C (p.Ile1712Leu) c.4435A>C (p.Ile1479Leu) c.5182A>C (p.Ile1728Leu) | |
| 16 | g.3729859T= | CA2202916577 | CREBBP | c.5188A= (p.Ile1730=) c.5074A= (p.Ile1692=) c.5143A= (p.Ile1715=) c.4771A= (p.Ile1591=) c.4927A= (p.Ile1643=) c.5134A= (p.Ile1712=) c.4435A= (p.Ile1479=) c.5182A= (p.Ile1728=) | |
| 16 | g.3729860G>A | CA493394355 | CREBBP | c.5187C>T (p.Cys1729=) c.5073C>T (p.Cys1691=) c.5142C>T (p.Cys1714=) c.4770C>T (p.Cys1590=) c.4926C>T (p.Cys1642=) c.5133C>T (p.Cys1711=) c.4434C>T (p.Cys1478=) c.5181C>T (p.Cys1727=) | dbSNP gnomAD v4 |
| 16 | g.3729860G>C | CA394557779 | CREBBP | c.5187C>G (p.Cys1729Trp) c.5073C>G (p.Cys1691Trp) c.5142C>G (p.Cys1714Trp) c.4770C>G (p.Cys1590Trp) c.4926C>G (p.Cys1642Trp) c.5133C>G (p.Cys1711Trp) c.4434C>G (p.Cys1478Trp) c.5181C>G (p.Cys1727Trp) | dbSNP |
| 16 | g.3729860G= | CA2202916587 | CREBBP | c.5187C= (p.Cys1729=) c.5073C= (p.Cys1691=) c.5142C= (p.Cys1714=) c.4770C= (p.Cys1590=) c.4926C= (p.Cys1642=) c.5133C= (p.Cys1711=) c.4434C= (p.Cys1478=) c.5181C= (p.Cys1727=) | |
| 16 | g.3729860G>T | CA394557781 | CREBBP | c.5187C>A (p.Cys1729Ter) c.5073C>A (p.Cys1691Ter) c.5142C>A (p.Cys1714Ter) c.4770C>A (p.Cys1590Ter) c.4926C>A (p.Cys1642Ter) c.5133C>A (p.Cys1711Ter) c.4434C>A (p.Cys1478Ter) c.5181C>A (p.Cys1727Ter) | gnomAD v4 |
| 16 | g.3729861C>A | CA394557783 | CREBBP | c.5186G>T (p.Cys1729Phe) c.5072G>T (p.Cys1691Phe) c.5141G>T (p.Cys1714Phe) c.4769G>T (p.Cys1590Phe) c.4925G>T (p.Cys1642Phe) c.5132G>T (p.Cys1711Phe) c.4433G>T (p.Cys1478Phe) c.5180G>T (p.Cys1727Phe) | |
| 16 | g.3729861C= | CA2202916602 | CREBBP | c.5186G= (p.Cys1729=) c.5072G= (p.Cys1691=) c.5141G= (p.Cys1714=) c.4769G= (p.Cys1590=) c.4925G= (p.Cys1642=) c.5132G= (p.Cys1711=) c.4433G= (p.Cys1478=) c.5180G= (p.Cys1727=) | |
| 16 | g.3729861C>G | CA394557784 | CREBBP | c.5186G>C (p.Cys1729Ser) c.5072G>C (p.Cys1691Ser) c.5141G>C (p.Cys1714Ser) c.4769G>C (p.Cys1590Ser) c.4925G>C (p.Cys1642Ser) c.5132G>C (p.Cys1711Ser) c.4433G>C (p.Cys1478Ser) c.5180G>C (p.Cys1727Ser) | ClinVar dbSNP |
| 16 | g.3729861C>T | CA394557786 | CREBBP | c.5186G>A (p.Cys1729Tyr) c.5072G>A (p.Cys1691Tyr) c.5141G>A (p.Cys1714Tyr) c.4769G>A (p.Cys1590Tyr) c.4925G>A (p.Cys1642Tyr) c.5132G>A (p.Cys1711Tyr) c.4433G>A (p.Cys1478Tyr) c.5180G>A (p.Cys1727Tyr) | ClinVar dbSNP |
| 16 | g.3729862A>C | CA394557788 | CREBBP | c.5185T>G (p.Cys1729Gly) c.5071T>G (p.Cys1691Gly) c.5140T>G (p.Cys1714Gly) c.4768T>G (p.Cys1590Gly) c.4924T>G (p.Cys1642Gly) c.5131T>G (p.Cys1711Gly) c.4432T>G (p.Cys1478Gly) c.5179T>G (p.Cys1727Gly) | |
| 16 | g.3729862A>G | CA394557790 | CREBBP | c.5185T>C (p.Cys1729Arg) c.5071T>C (p.Cys1691Arg) c.5140T>C (p.Cys1714Arg) c.4768T>C (p.Cys1590Arg) c.4924T>C (p.Cys1642Arg) c.5131T>C (p.Cys1711Arg) c.4432T>C (p.Cys1478Arg) c.5179T>C (p.Cys1727Arg) | dbSNP gnomAD v4 |
| 16 | g.3729862A>T | CA394557792 | CREBBP | c.5185T>A (p.Cys1729Ser) c.5071T>A (p.Cys1691Ser) c.5140T>A (p.Cys1714Ser) c.4768T>A (p.Cys1590Ser) c.4924T>A (p.Cys1642Ser) c.5131T>A (p.Cys1711Ser) c.4432T>A (p.Cys1478Ser) c.5179T>A (p.Cys1727Ser) | dbSNP |
| 16 | g.3729863G>A | CA7869314 | CREBBP | c.5184C>T (p.Leu1728=) c.5070C>T (p.Leu1690=) c.5139C>T (p.Leu1713=) c.4767C>T (p.Leu1589=) c.4923C>T (p.Leu1641=) c.5130C>T (p.Leu1710=) c.4431C>T (p.Leu1477=) c.5178C>T (p.Leu1726=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.3729863G>C | CA493394357 | CREBBP | c.5184C>G (p.Leu1728=) c.5070C>G (p.Leu1690=) c.5139C>G (p.Leu1713=) c.4767C>G (p.Leu1589=) c.4923C>G (p.Leu1641=) c.5130C>G (p.Leu1710=) c.4431C>G (p.Leu1477=) c.5178C>G (p.Leu1726=) | dbSNP |
| 16 | g.3729863G= | CA2202916620 | CREBBP | c.5184C= (p.Leu1728=) c.5070C= (p.Leu1690=) c.5139C= (p.Leu1713=) c.4767C= (p.Leu1589=) c.4923C= (p.Leu1641=) c.5130C= (p.Leu1710=) c.4431C= (p.Leu1477=) c.5178C= (p.Leu1726=) | |
| 16 | g.3729863G>T | CA493394358 | CREBBP | c.5184C>A (p.Leu1728=) c.5070C>A (p.Leu1690=) c.5139C>A (p.Leu1713=) c.4767C>A (p.Leu1589=) c.4923C>A (p.Leu1641=) c.5130C>A (p.Leu1710=) c.4431C>A (p.Leu1477=) c.5178C>A (p.Leu1726=) | gnomAD v4 |
| 16 | g.3729864A>C | CA394557794 | CREBBP | c.5183T>G (p.Leu1728Arg) c.5069T>G (p.Leu1690Arg) c.5138T>G (p.Leu1713Arg) c.4766T>G (p.Leu1589Arg) c.4922T>G (p.Leu1641Arg) c.5129T>G (p.Leu1710Arg) c.4430T>G (p.Leu1477Arg) c.5177T>G (p.Leu1726Arg) | |
| 16 | g.3729864A>G | CA394557796 | CREBBP | c.5183T>C (p.Leu1728Pro) c.5069T>C (p.Leu1690Pro) c.5138T>C (p.Leu1713Pro) c.4766T>C (p.Leu1589Pro) c.4922T>C (p.Leu1641Pro) c.5129T>C (p.Leu1710Pro) c.4430T>C (p.Leu1477Pro) c.5177T>C (p.Leu1726Pro) | dbSNP |
| 16 | g.3729864A>T | CA394557798 | CREBBP | c.5183T>A (p.Leu1728His) c.5069T>A (p.Leu1690His) c.5138T>A (p.Leu1713His) c.4766T>A (p.Leu1589His) c.4922T>A (p.Leu1641His) c.5129T>A (p.Leu1710His) c.4430T>A (p.Leu1477His) c.5177T>A (p.Leu1726His) | dbSNP |
| 16 | g.3729865G>A | CA394557800 | CREBBP | c.5182C>T (p.Leu1728Phe) c.5068C>T (p.Leu1690Phe) c.5137C>T (p.Leu1713Phe) c.4765C>T (p.Leu1589Phe) c.4921C>T (p.Leu1641Phe) c.5128C>T (p.Leu1710Phe) c.4429C>T (p.Leu1477Phe) c.5176C>T (p.Leu1726Phe) | dbSNP |
| 16 | g.3729865G>C | CA394557804 | CREBBP | c.5182C>G (p.Leu1728Val) c.5068C>G (p.Leu1690Val) c.5137C>G (p.Leu1713Val) c.4765C>G (p.Leu1589Val) c.4921C>G (p.Leu1641Val) c.5128C>G (p.Leu1710Val) c.4429C>G (p.Leu1477Val) c.5176C>G (p.Leu1726Val) | |
| 16 | g.3729865G>T | CA394557802 | CREBBP | c.5182C>A (p.Leu1728Ile) c.5068C>A (p.Leu1690Ile) c.5137C>A (p.Leu1713Ile) c.4765C>A (p.Leu1589Ile) c.4921C>A (p.Leu1641Ile) c.5128C>A (p.Leu1710Ile) c.4429C>A (p.Leu1477Ile) c.5176C>A (p.Leu1726Ile) | gnomAD v4 |
| 16 | g.3729866G>A | CA7869315 | CREBBP | c.5181C>T (p.Asp1727=) c.5067C>T (p.Asp1689=) c.5136C>T (p.Asp1712=) c.4764C>T (p.Asp1588=) c.4920C>T (p.Asp1640=) c.5127C>T (p.Asp1709=) c.4428C>T (p.Asp1476=) c.5175C>T (p.Asp1725=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.3729866G>C | CA394557806 | CREBBP | c.5181C>G (p.Asp1727Glu) c.5067C>G (p.Asp1689Glu) c.5136C>G (p.Asp1712Glu) c.4764C>G (p.Asp1588Glu) c.4920C>G (p.Asp1640Glu) c.5127C>G (p.Asp1709Glu) c.4428C>G (p.Asp1476Glu) c.5175C>G (p.Asp1725Glu) | dbSNP |
| 16 | g.3729866G= | CA2202916630 | CREBBP | c.5181C= (p.Asp1727=) c.5067C= (p.Asp1689=) c.5136C= (p.Asp1712=) c.4764C= (p.Asp1588=) c.4920C= (p.Asp1640=) c.5127C= (p.Asp1709=) c.4428C= (p.Asp1476=) c.5175C= (p.Asp1725=) | |
| 16 | g.3729866G>T | CA394557808 | CREBBP | c.5181C>A (p.Asp1727Glu) c.5067C>A (p.Asp1689Glu) c.5136C>A (p.Asp1712Glu) c.4764C>A (p.Asp1588Glu) c.4920C>A (p.Asp1640Glu) c.5127C>A (p.Asp1709Glu) c.4428C>A (p.Asp1476Glu) c.5175C>A (p.Asp1725Glu) | gnomAD v4 |
| 16 | g.3729867T>A | CA394557810 | CREBBP | c.5180A>T (p.Asp1727Val) c.5066A>T (p.Asp1689Val) c.5135A>T (p.Asp1712Val) c.4763A>T (p.Asp1588Val) c.4919A>T (p.Asp1640Val) c.5126A>T (p.Asp1709Val) c.4427A>T (p.Asp1476Val) c.5174A>T (p.Asp1725Val) | dbSNP |
| 16 | g.3729867T>C | CA394557812 | CREBBP | c.5180A>G (p.Asp1727Gly) c.5066A>G (p.Asp1689Gly) c.5135A>G (p.Asp1712Gly) c.4763A>G (p.Asp1588Gly) c.4919A>G (p.Asp1640Gly) c.5126A>G (p.Asp1709Gly) c.4427A>G (p.Asp1476Gly) c.5174A>G (p.Asp1725Gly) | dbSNP |
| 16 | g.3729867T>G | CA394557814 | CREBBP | c.5180A>C (p.Asp1727Ala) c.5066A>C (p.Asp1689Ala) c.5135A>C (p.Asp1712Ala) c.4763A>C (p.Asp1588Ala) c.4919A>C (p.Asp1640Ala) c.5126A>C (p.Asp1709Ala) c.4427A>C (p.Asp1476Ala) c.5174A>C (p.Asp1725Ala) | dbSNP |
| 16 | g.3729868C>A | CA394557816 | CREBBP | c.5179G>T (p.Asp1727Tyr) c.5065G>T (p.Asp1689Tyr) c.5134G>T (p.Asp1712Tyr) c.4762G>T (p.Asp1588Tyr) c.4918G>T (p.Asp1640Tyr) c.5125G>T (p.Asp1709Tyr) c.4426G>T (p.Asp1476Tyr) c.5173G>T (p.Asp1725Tyr) | dbSNP gnomAD v4 |
| 16 | g.3729868C>G | CA394557817 | CREBBP | c.5179G>C (p.Asp1727His) c.5065G>C (p.Asp1689His) c.5134G>C (p.Asp1712His) c.4762G>C (p.Asp1588His) c.4918G>C (p.Asp1640His) c.5125G>C (p.Asp1709His) c.4426G>C (p.Asp1476His) c.5173G>C (p.Asp1725His) | dbSNP |
| 16 | g.3729868C>T | CA394557819 | CREBBP | c.5179G>A (p.Asp1727Asn) c.5065G>A (p.Asp1689Asn) c.5134G>A (p.Asp1712Asn) c.4762G>A (p.Asp1588Asn) c.4918G>A (p.Asp1640Asn) c.5125G>A (p.Asp1709Asn) c.4426G>A (p.Asp1476Asn) c.5173G>A (p.Asp1725Asn) | dbSNP gnomAD v4 |
| 16 | g.3729869G>A | CA7869316 | CREBBP | c.5178C>T (p.Tyr1726=) c.5064C>T (p.Tyr1688=) c.5133C>T (p.Tyr1711=) c.4761C>T (p.Tyr1587=) c.4917C>T (p.Tyr1639=) c.5124C>T (p.Tyr1708=) c.4425C>T (p.Tyr1475=) c.5172C>T (p.Tyr1724=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.3729869G>C | CA394557821 | CREBBP | c.5178C>G (p.Tyr1726Ter) c.5064C>G (p.Tyr1688Ter) c.5133C>G (p.Tyr1711Ter) c.4761C>G (p.Tyr1587Ter) c.4917C>G (p.Tyr1639Ter) c.5124C>G (p.Tyr1708Ter) c.4425C>G (p.Tyr1475Ter) c.5172C>G (p.Tyr1724Ter) | dbSNP |
| 16 | g.3729869G= | CA2202916638 | CREBBP | c.5178C= (p.Tyr1726=) c.5064C= (p.Tyr1688=) c.5133C= (p.Tyr1711=) c.4761C= (p.Tyr1587=) c.4917C= (p.Tyr1639=) c.5124C= (p.Tyr1708=) c.4425C= (p.Tyr1475=) c.5172C= (p.Tyr1724=) | |
| 16 | g.3729869G>T | CA394557823 | CREBBP | c.5178C>A (p.Tyr1726Ter) c.5064C>A (p.Tyr1688Ter) c.5133C>A (p.Tyr1711Ter) c.4761C>A (p.Tyr1587Ter) c.4917C>A (p.Tyr1639Ter) c.5124C>A (p.Tyr1708Ter) c.4425C>A (p.Tyr1475Ter) c.5172C>A (p.Tyr1724Ter) | gnomAD v4 |
| 16 | g.3729870T>A | CA394557829 | CREBBP | c.5177A>T (p.Tyr1726Phe) c.5063A>T (p.Tyr1688Phe) c.5132A>T (p.Tyr1711Phe) c.4760A>T (p.Tyr1587Phe) c.4916A>T (p.Tyr1639Phe) c.5123A>T (p.Tyr1708Phe) c.4424A>T (p.Tyr1475Phe) c.5171A>T (p.Tyr1724Phe) | dbSNP |
| 16 | g.3729870T>C | CA394557827 | CREBBP | c.5177A>G (p.Tyr1726Cys) c.5063A>G (p.Tyr1688Cys) c.5132A>G (p.Tyr1711Cys) c.4760A>G (p.Tyr1587Cys) c.4916A>G (p.Tyr1639Cys) c.5123A>G (p.Tyr1708Cys) c.4424A>G (p.Tyr1475Cys) c.5171A>G (p.Tyr1724Cys) | dbSNP |
| 16 | g.3729870T>G | CA394557825 | CREBBP | c.5177A>C (p.Tyr1726Ser) c.5063A>C (p.Tyr1688Ser) c.5132A>C (p.Tyr1711Ser) c.4760A>C (p.Tyr1587Ser) c.4916A>C (p.Tyr1639Ser) c.5123A>C (p.Tyr1708Ser) c.4424A>C (p.Tyr1475Ser) c.5171A>C (p.Tyr1724Ser) | dbSNP |
| 16 | g.3729871A>C | CA394557831 | CREBBP | c.5176T>G (p.Tyr1726Asp) c.5062T>G (p.Tyr1688Asp) c.5131T>G (p.Tyr1711Asp) c.4759T>G (p.Tyr1587Asp) c.4915T>G (p.Tyr1639Asp) c.5122T>G (p.Tyr1708Asp) c.4423T>G (p.Tyr1475Asp) c.5170T>G (p.Tyr1724Asp) | |
| 16 | g.3729871A>G | CA394557833 | CREBBP | c.5176T>C (p.Tyr1726His) c.5062T>C (p.Tyr1688His) c.5131T>C (p.Tyr1711His) c.4759T>C (p.Tyr1587His) c.4915T>C (p.Tyr1639His) c.5122T>C (p.Tyr1708His) c.4423T>C (p.Tyr1475His) c.5170T>C (p.Tyr1724His) | dbSNP |
| 16 | g.3729871A>T | CA394557835 | CREBBP | c.5176T>A (p.Tyr1726Asn) c.5062T>A (p.Tyr1688Asn) c.5131T>A (p.Tyr1711Asn) c.4759T>A (p.Tyr1587Asn) c.4915T>A (p.Tyr1639Asn) c.5122T>A (p.Tyr1708Asn) c.4423T>A (p.Tyr1475Asn) c.5170T>A (p.Tyr1724Asn) | |
| 16 | g.3729872G>A | CA7869317 | CREBBP | c.5175C>T (p.Asp1725=) c.5061C>T (p.Asp1687=) c.5130C>T (p.Asp1710=) c.4758C>T (p.Asp1586=) c.4914C>T (p.Asp1638=) c.5121C>T (p.Asp1707=) c.4422C>T (p.Asp1474=) c.5169C>T (p.Asp1723=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.3729872G>C | CA394557836 | CREBBP | c.5175C>G (p.Asp1725Glu) c.5061C>G (p.Asp1687Glu) c.5130C>G (p.Asp1710Glu) c.4758C>G (p.Asp1586Glu) c.4914C>G (p.Asp1638Glu) c.5121C>G (p.Asp1707Glu) c.4422C>G (p.Asp1474Glu) c.5169C>G (p.Asp1723Glu) | dbSNP |
| 16 | g.3729872G= | CA2202916650 | CREBBP | c.5175C= (p.Asp1725=) c.5061C= (p.Asp1687=) c.5130C= (p.Asp1710=) c.4758C= (p.Asp1586=) c.4914C= (p.Asp1638=) c.5121C= (p.Asp1707=) c.4422C= (p.Asp1474=) c.5169C= (p.Asp1723=) | |
| 16 | g.3729872G>T | CA394557838 | CREBBP | c.5175C>A (p.Asp1725Glu) c.5061C>A (p.Asp1687Glu) c.5130C>A (p.Asp1710Glu) c.4758C>A (p.Asp1586Glu) c.4914C>A (p.Asp1638Glu) c.5121C>A (p.Asp1707Glu) c.4422C>A (p.Asp1474Glu) c.5169C>A (p.Asp1723Glu) | dbSNP gnomAD v4 |
| 16 | g.3729873T>A | CA394557840 | CREBBP | c.5174A>T (p.Asp1725Val) c.5060A>T (p.Asp1687Val) c.5129A>T (p.Asp1710Val) c.4757A>T (p.Asp1586Val) c.4913A>T (p.Asp1638Val) c.5120A>T (p.Asp1707Val) c.4421A>T (p.Asp1474Val) c.5168A>T (p.Asp1723Val) | dbSNP |
| 16 | g.3729873T>C | CA394557842 | CREBBP | c.5174A>G (p.Asp1725Gly) c.5060A>G (p.Asp1687Gly) c.5129A>G (p.Asp1710Gly) c.4757A>G (p.Asp1586Gly) c.4913A>G (p.Asp1638Gly) c.5120A>G (p.Asp1707Gly) c.4421A>G (p.Asp1474Gly) c.5168A>G (p.Asp1723Gly) | dbSNP |
| 16 | g.3729873T>G | CA394557844 | CREBBP | c.5174A>C (p.Asp1725Ala) c.5060A>C (p.Asp1687Ala) c.5129A>C (p.Asp1710Ala) c.4757A>C (p.Asp1586Ala) c.4913A>C (p.Asp1638Ala) c.5120A>C (p.Asp1707Ala) c.4421A>C (p.Asp1474Ala) c.5168A>C (p.Asp1723Ala) | |
| 16 | g.3729874C>A | CA394557846 | CREBBP | c.5173G>T (p.Asp1725Tyr) c.5059G>T (p.Asp1687Tyr) c.5128G>T (p.Asp1710Tyr) c.4756G>T (p.Asp1586Tyr) c.4912G>T (p.Asp1638Tyr) c.5119G>T (p.Asp1707Tyr) c.4420G>T (p.Asp1474Tyr) c.5167G>T (p.Asp1723Tyr) | dbSNP gnomAD v4 |
| 16 | g.3729874C>G | CA394557847 | CREBBP | c.5173G>C (p.Asp1725His) c.5059G>C (p.Asp1687His) c.5128G>C (p.Asp1710His) c.4756G>C (p.Asp1586His) c.4912G>C (p.Asp1638His) c.5119G>C (p.Asp1707His) c.4420G>C (p.Asp1474His) c.5167G>C (p.Asp1723His) | |
| 16 | g.3729874C>T | CA394557849 | CREBBP | c.5173G>A (p.Asp1725Asn) c.5059G>A (p.Asp1687Asn) c.5128G>A (p.Asp1710Asn) c.4756G>A (p.Asp1586Asn) c.4912G>A (p.Asp1638Asn) c.5119G>A (p.Asp1707Asn) c.4420G>A (p.Asp1474Asn) c.5167G>A (p.Asp1723Asn) | |
| 16 | g.3729875C>A | CA394557851 | CREBBP | c.5173-1G>T (n.5173-1G>T) c.5059-1G>T (n.5059-1G>T) c.5128-1G>T (n.5128-1G>T) c.4756-1G>T (n.4756-1G>T) c.4912-1G>T (n.4912-1G>T) c.5119-1G>T (n.5119-1G>T) c.4420-1G>T (n.4420-1G>T) c.5167-1G>T (n.5167-1G>T) | dbSNP gnomAD v4 |
| 16 | g.3729875C>G | CA394557855 | CREBBP | c.5173-1G>C (n.5173-1G>C) c.5059-1G>C (n.5059-1G>C) c.5128-1G>C (n.5128-1G>C) c.4756-1G>C (n.4756-1G>C) c.4912-1G>C (n.4912-1G>C) c.5119-1G>C (n.5119-1G>C) c.4420-1G>C (n.4420-1G>C) c.5167-1G>C (n.5167-1G>C) | dbSNP |
| 16 | g.3729875C>T | CA394557853 | CREBBP | c.5173-1G>A (n.5173-1G>A) c.5059-1G>A (n.5059-1G>A) c.5128-1G>A (n.5128-1G>A) c.4756-1G>A (n.4756-1G>A) c.4912-1G>A (n.4912-1G>A) c.5119-1G>A (n.5119-1G>A) c.4420-1G>A (n.4420-1G>A) c.5167-1G>A (n.5167-1G>A) | |
| 16 | g.3729876T>A | CA394557857 | CREBBP | c.5173-2A>T (n.5173-2A>T) c.5059-2A>T (n.5059-2A>T) c.5128-2A>T (n.5128-2A>T) c.4756-2A>T (n.4756-2A>T) c.4912-2A>T (n.4912-2A>T) c.5119-2A>T (n.5119-2A>T) c.4420-2A>T (n.4420-2A>T) c.5167-2A>T (n.5167-2A>T) | dbSNP |
| 16 | g.3729876T>C | CA394557860 | CREBBP | c.5173-2A>G (n.5173-2A>G) c.5059-2A>G (n.5059-2A>G) c.5128-2A>G (n.5128-2A>G) c.4756-2A>G (n.4756-2A>G) c.4912-2A>G (n.4912-2A>G) c.5119-2A>G (n.5119-2A>G) c.4420-2A>G (n.4420-2A>G) c.5167-2A>G (n.5167-2A>G) | dbSNP |
| 16 | g.3729876T>G | CA394557858 | CREBBP | c.5173-2A>C (n.5173-2A>C) c.5059-2A>C (n.5059-2A>C) c.5128-2A>C (n.5128-2A>C) c.4756-2A>C (n.4756-2A>C) c.4912-2A>C (n.4912-2A>C) c.5119-2A>C (n.5119-2A>C) c.4420-2A>C (n.4420-2A>C) c.5167-2A>C (n.5167-2A>C) | dbSNP |
| 16 | g.3729876_3729880delinsTGCAA | CA2202916659 | CREBBP | c.5173-6_5173-2delinsTTGCA (n.5173-6_5173-2delinsTTGCA) c.5059-6_5059-2delinsTTGCA (n.5059-6_5059-2delinsTTGCA) c.5128-6_5128-2delinsTTGCA (n.5128-6_5128-2delinsTTGCA) c.4756-6_4756-2delinsTTGCA (n.4756-6_4756-2delinsTTGCA) c.4912-6_4912-2delinsTTGCA (n.4912-6_4912-2delinsTTGCA) c.5119-6_5119-2delinsTTGCA (n.5119-6_5119-2delinsTTGCA) c.4420-6_4420-2delinsTTGCA (n.4420-6_4420-2delinsTTGCA) c.5167-6_5167-2delinsTTGCA (n.5167-6_5167-2delinsTTGCA) | |
| 16 | g.3729877G>A | CA620714475 | CREBBP | c.5173-3C>T (n.5173-3C>T) c.5059-3C>T (n.5059-3C>T) c.5128-3C>T (n.5128-3C>T) c.4756-3C>T (n.4756-3C>T) c.4912-3C>T (n.4912-3C>T) c.5119-3C>T (n.5119-3C>T) c.4420-3C>T (n.4420-3C>T) c.5167-3C>T (n.5167-3C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.3729877G>C | CA2731619587 | CREBBP | c.5173-3C>G (n.5173-3C>G) c.5059-3C>G (n.5059-3C>G) c.5128-3C>G (n.5128-3C>G) c.4756-3C>G (n.4756-3C>G) c.4912-3C>G (n.4912-3C>G) c.5119-3C>G (n.5119-3C>G) c.4420-3C>G (n.4420-3C>G) c.5167-3C>G (n.5167-3C>G) | dbSNP |
| 16 | g.3729877G= | CA2202916663 | CREBBP | c.5173-3C= (n.5173-3C=) c.5059-3C= (n.5059-3C=) c.5128-3C= (n.5128-3C=) c.4756-3C= (n.4756-3C=) c.4912-3C= (n.4912-3C=) c.5119-3C= (n.5119-3C=) c.4420-3C= (n.4420-3C=) c.5167-3C= (n.5167-3C=) | |
| 16 | g.3729877G>T | CA2631399099 | CREBBP | c.5173-3C>A (n.5173-3C>A) c.5059-3C>A (n.5059-3C>A) c.5128-3C>A (n.5128-3C>A) c.4756-3C>A (n.4756-3C>A) c.4912-3C>A (n.4912-3C>A) c.5119-3C>A (n.5119-3C>A) c.4420-3C>A (n.4420-3C>A) c.5167-3C>A (n.5167-3C>A) | gnomAD v4 |
| 16 | g.3729882_3729885del | CA919643074 | CREBBP | c.5173-6_5173-3del (n.5173-6_5173-3del) c.5059-6_5059-3del (n.5059-6_5059-3del) c.5128-6_5128-3del (n.5128-6_5128-3del) c.4756-6_4756-3del (n.4756-6_4756-3del) c.4912-6_4912-3del (n.4912-6_4912-3del) c.5119-6_5119-3del (n.5119-6_5119-3del) c.4420-6_4420-3del (n.4420-6_4420-3del) c.5167-6_5167-3del (n.5167-6_5167-3del) | dbSNP |
| 16 | g.3729878C>A | CA2575893813 | CREBBP | c.5173-4G>T (n.5173-4G>T) c.5059-4G>T (n.5059-4G>T) c.5128-4G>T (n.5128-4G>T) c.4756-4G>T (n.4756-4G>T) c.4912-4G>T (n.4912-4G>T) c.5119-4G>T (n.5119-4G>T) c.4420-4G>T (n.4420-4G>T) c.5167-4G>T (n.5167-4G>T) | dbSNP |
| 16 | g.3729878C>G | CA2731851215 | CREBBP | c.5173-4G>C (n.5173-4G>C) c.5059-4G>C (n.5059-4G>C) c.5128-4G>C (n.5128-4G>C) c.4756-4G>C (n.4756-4G>C) c.4912-4G>C (n.4912-4G>C) c.5119-4G>C (n.5119-4G>C) c.4420-4G>C (n.4420-4G>C) c.5167-4G>C (n.5167-4G>C) | dbSNP |
| 16 | g.3729879A>G | CA2631399101 | CREBBP | c.5173-5T>C (n.5173-5T>C) c.5059-5T>C (n.5059-5T>C) c.5128-5T>C (n.5128-5T>C) c.4756-5T>C (n.4756-5T>C) c.4912-5T>C (n.4912-5T>C) c.5119-5T>C (n.5119-5T>C) c.4420-5T>C (n.4420-5T>C) c.5167-5T>C (n.5167-5T>C) | gnomAD v4 |
| 16 | g.3729879A>T | CA2731851216 | CREBBP | c.5173-5T>A (n.5173-5T>A) c.5059-5T>A (n.5059-5T>A) c.5128-5T>A (n.5128-5T>A) c.4756-5T>A (n.4756-5T>A) c.4912-5T>A (n.4912-5T>A) c.5119-5T>A (n.5119-5T>A) c.4420-5T>A (n.4420-5T>A) c.5167-5T>A (n.5167-5T>A) | dbSNP |
| 16 | g.3729880A>T | CA2731851217 | CREBBP | c.5173-6T>A (n.5173-6T>A) c.5059-6T>A (n.5059-6T>A) c.5128-6T>A (n.5128-6T>A) c.4756-6T>A (n.4756-6T>A) c.4912-6T>A (n.4912-6T>A) c.5119-6T>A (n.5119-6T>A) c.4420-6T>A (n.4420-6T>A) c.5167-6T>A (n.5167-6T>A) | dbSNP |
| 16 | g.3729881G>A | CA720718899 | CREBBP | c.5173-7C>T (n.5173-7C>T) c.5059-7C>T (n.5059-7C>T) c.5128-7C>T (n.5128-7C>T) c.4756-7C>T (n.4756-7C>T) c.4912-7C>T (n.4912-7C>T) c.5119-7C>T (n.5119-7C>T) c.4420-7C>T (n.4420-7C>T) c.5167-7C>T (n.5167-7C>T) | dbSNP |
| 16 | g.3729881G= | CA2202916669 | CREBBP | c.5173-7C= (n.5173-7C=) c.5059-7C= (n.5059-7C=) c.5128-7C= (n.5128-7C=) c.4756-7C= (n.4756-7C=) c.4912-7C= (n.4912-7C=) c.5119-7C= (n.5119-7C=) c.4420-7C= (n.4420-7C=) c.5167-7C= (n.5167-7C=) | |
| 16 | g.3729881G>T | CA2631399103 | CREBBP | c.5173-7C>A (n.5173-7C>A) c.5059-7C>A (n.5059-7C>A) c.5128-7C>A (n.5128-7C>A) c.4756-7C>A (n.4756-7C>A) c.4912-7C>A (n.4912-7C>A) c.5119-7C>A (n.5119-7C>A) c.4420-7C>A (n.4420-7C>A) c.5167-7C>A (n.5167-7C>A) | gnomAD v4 |
| 16 | g.3729882C>A | CA2631399104 | CREBBP | c.5173-8G>T (n.5173-8G>T) c.5059-8G>T (n.5059-8G>T) c.5128-8G>T (n.5128-8G>T) c.4756-8G>T (n.4756-8G>T) c.4912-8G>T (n.4912-8G>T) c.5119-8G>T (n.5119-8G>T) c.4420-8G>T (n.4420-8G>T) c.5167-8G>T (n.5167-8G>T) | dbSNP gnomAD v4 |
| 16 | g.3729882C>G | CA2575893814 | CREBBP | c.5173-8G>C (n.5173-8G>C) c.5059-8G>C (n.5059-8G>C) c.5128-8G>C (n.5128-8G>C) c.4756-8G>C (n.4756-8G>C) c.4912-8G>C (n.4912-8G>C) c.5119-8G>C (n.5119-8G>C) c.4420-8G>C (n.4420-8G>C) c.5167-8G>C (n.5167-8G>C) | dbSNP |
| 16 | g.3729882C>T | CA2631399105 | CREBBP | c.5173-8G>A (n.5173-8G>A) c.5059-8G>A (n.5059-8G>A) c.5128-8G>A (n.5128-8G>A) c.4756-8G>A (n.4756-8G>A) c.4912-8G>A (n.4912-8G>A) c.5119-8G>A (n.5119-8G>A) c.4420-8G>A (n.4420-8G>A) c.5167-8G>A (n.5167-8G>A) | dbSNP gnomAD v4 |
| 16 | g.3729883A= | CA2202916672 | CREBBP | c.5173-9T= (n.5173-9T=) c.5059-9T= (n.5059-9T=) c.5128-9T= (n.5128-9T=) c.4756-9T= (n.4756-9T=) c.4912-9T= (n.4912-9T=) c.5119-9T= (n.5119-9T=) c.4420-9T= (n.4420-9T=) c.5167-9T= (n.5167-9T=) | |
| 16 | g.3729883A>G | CA276972376 | CREBBP | c.5173-9T>C (n.5173-9T>C) c.5059-9T>C (n.5059-9T>C) c.5128-9T>C (n.5128-9T>C) c.4756-9T>C (n.4756-9T>C) c.4912-9T>C (n.4912-9T>C) c.5119-9T>C (n.5119-9T>C) c.4420-9T>C (n.4420-9T>C) c.5167-9T>C (n.5167-9T>C) | dbSNP |
| 16 | g.3729884A= | CA2202916681 | CREBBP | c.5173-10T= (n.5173-10T=) c.5059-10T= (n.5059-10T=) c.5128-10T= (n.5128-10T=) c.4756-10T= (n.4756-10T=) c.4912-10T= (n.4912-10T=) c.5119-10T= (n.5119-10T=) c.4420-10T= (n.4420-10T=) c.5167-10T= (n.5167-10T=) | |
| 16 | g.3729884A>C | CA2697549656 | CREBBP | c.5173-10T>G (n.5173-10T>G) c.5059-10T>G (n.5059-10T>G) c.5128-10T>G (n.5128-10T>G) c.4756-10T>G (n.4756-10T>G) c.4912-10T>G (n.4912-10T>G) c.5119-10T>G (n.5119-10T>G) c.4420-10T>G (n.4420-10T>G) c.5167-10T>G (n.5167-10T>G) | ClinVar |
| 16 | g.3729884A>G | CA2731579107 | CREBBP | c.5173-10T>C (n.5173-10T>C) c.5059-10T>C (n.5059-10T>C) c.5128-10T>C (n.5128-10T>C) c.4756-10T>C (n.4756-10T>C) c.4912-10T>C (n.4912-10T>C) c.5119-10T>C (n.5119-10T>C) c.4420-10T>C (n.4420-10T>C) c.5167-10T>C (n.5167-10T>C) | dbSNP |
| 16 | g.3729884A>T | CA7869318 | CREBBP | c.5173-10T>A (n.5173-10T>A) c.5059-10T>A (n.5059-10T>A) c.5128-10T>A (n.5128-10T>A) c.4756-10T>A (n.4756-10T>A) c.4912-10T>A (n.4912-10T>A) c.5119-10T>A (n.5119-10T>A) c.4420-10T>A (n.4420-10T>A) c.5167-10T>A (n.5167-10T>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.3729885G>A | CA7869319 | CREBBP | c.5173-11C>T (n.5173-11C>T) c.5059-11C>T (n.5059-11C>T) c.5128-11C>T (n.5128-11C>T) c.4756-11C>T (n.4756-11C>T) c.4912-11C>T (n.4912-11C>T) c.5119-11C>T (n.5119-11C>T) c.4420-11C>T (n.4420-11C>T) c.5167-11C>T (n.5167-11C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.3729885G= | CA2202916684 | CREBBP | c.5173-11C= (n.5173-11C=) c.5059-11C= (n.5059-11C=) c.5128-11C= (n.5128-11C=) c.4756-11C= (n.4756-11C=) c.4912-11C= (n.4912-11C=) c.5119-11C= (n.5119-11C=) c.4420-11C= (n.4420-11C=) c.5167-11C= (n.5167-11C=) | |
| 16 | g.3729885G>T | CA2631399107 | CREBBP | c.5173-11C>A (n.5173-11C>A) c.5059-11C>A (n.5059-11C>A) c.5128-11C>A (n.5128-11C>A) c.4756-11C>A (n.4756-11C>A) c.4912-11C>A (n.4912-11C>A) c.5119-11C>A (n.5119-11C>A) c.4420-11C>A (n.4420-11C>A) c.5167-11C>A (n.5167-11C>A) | dbSNP gnomAD v4 |
| 16 | g.3729886G>C | CA620714476 | CREBBP | c.5173-12C>G (n.5173-12C>G) c.5059-12C>G (n.5059-12C>G) c.5128-12C>G (n.5128-12C>G) c.4756-12C>G (n.4756-12C>G) c.4912-12C>G (n.4912-12C>G) c.5119-12C>G (n.5119-12C>G) c.4420-12C>G (n.4420-12C>G) c.5167-12C>G (n.5167-12C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.3729886G= | CA2202916692 | CREBBP | c.5173-12C= (n.5173-12C=) c.5059-12C= (n.5059-12C=) c.5128-12C= (n.5128-12C=) c.4756-12C= (n.4756-12C=) c.4912-12C= (n.4912-12C=) c.5119-12C= (n.5119-12C=) c.4420-12C= (n.4420-12C=) c.5167-12C= (n.5167-12C=) | |
| 16 | g.3729886G>T | CA2631399111 | CREBBP | c.5173-12C>A (n.5173-12C>A) c.5059-12C>A (n.5059-12C>A) c.5128-12C>A (n.5128-12C>A) c.4756-12C>A (n.4756-12C>A) c.4912-12C>A (n.4912-12C>A) c.5119-12C>A (n.5119-12C>A) c.4420-12C>A (n.4420-12C>A) c.5167-12C>A (n.5167-12C>A) | gnomAD v4 |
| 16 | g.3729887A>G | CA2631399112 | CREBBP | c.5173-13T>C (n.5173-13T>C) c.5059-13T>C (n.5059-13T>C) c.5128-13T>C (n.5128-13T>C) c.4756-13T>C (n.4756-13T>C) c.4912-13T>C (n.4912-13T>C) c.5119-13T>C (n.5119-13T>C) c.4420-13T>C (n.4420-13T>C) c.5167-13T>C (n.5167-13T>C) | gnomAD v4 |
| 16 | g.3729887A>T | CA2731851218 | CREBBP | c.5173-13T>A (n.5173-13T>A) c.5059-13T>A (n.5059-13T>A) c.5128-13T>A (n.5128-13T>A) c.4756-13T>A (n.4756-13T>A) c.4912-13T>A (n.4912-13T>A) c.5119-13T>A (n.5119-13T>A) c.4420-13T>A (n.4420-13T>A) c.5167-13T>A (n.5167-13T>A) | dbSNP |
| 16 | g.3729888A>G | CA2731851219 | CREBBP | c.5173-14T>C (n.5173-14T>C) c.5059-14T>C (n.5059-14T>C) c.5128-14T>C (n.5128-14T>C) c.4756-14T>C (n.4756-14T>C) c.4912-14T>C (n.4912-14T>C) c.5119-14T>C (n.5119-14T>C) c.4420-14T>C (n.4420-14T>C) c.5167-14T>C (n.5167-14T>C) | dbSNP |
| 16 | g.3729889A>G | CA2731851220 | CREBBP | c.5173-15T>C (n.5173-15T>C) c.5059-15T>C (n.5059-15T>C) c.5128-15T>C (n.5128-15T>C) c.4756-15T>C (n.4756-15T>C) c.4912-15T>C (n.4912-15T>C) c.5119-15T>C (n.5119-15T>C) c.4420-15T>C (n.4420-15T>C) c.5167-15T>C (n.5167-15T>C) | dbSNP |
| 16 | g.3729890G>A | CA2575893815 | CREBBP | c.5173-16C>T (n.5173-16C>T) c.5059-16C>T (n.5059-16C>T) c.5128-16C>T (n.5128-16C>T) c.4756-16C>T (n.4756-16C>T) c.4912-16C>T (n.4912-16C>T) c.5119-16C>T (n.5119-16C>T) c.4420-16C>T (n.4420-16C>T) c.5167-16C>T (n.5167-16C>T) | dbSNP gnomAD v4 |
| 16 | g.3729890G>C | CA2731851221 | CREBBP | c.5173-16C>G (n.5173-16C>G) c.5059-16C>G (n.5059-16C>G) c.5128-16C>G (n.5128-16C>G) c.4756-16C>G (n.4756-16C>G) c.4912-16C>G (n.4912-16C>G) c.5119-16C>G (n.5119-16C>G) c.4420-16C>G (n.4420-16C>G) c.5167-16C>G (n.5167-16C>G) | dbSNP |
| 16 | g.3729890G>T | CA2631399114 | CREBBP | c.5173-16C>A (n.5173-16C>A) c.5059-16C>A (n.5059-16C>A) c.5128-16C>A (n.5128-16C>A) c.4756-16C>A (n.4756-16C>A) c.4912-16C>A (n.4912-16C>A) c.5119-16C>A (n.5119-16C>A) c.4420-16C>A (n.4420-16C>A) c.5167-16C>A (n.5167-16C>A) | dbSNP gnomAD v4 |
| 16 | g.3729891G>A | CA2202916699 | CREBBP | c.5173-17C>T (n.5173-17C>T) c.5059-17C>T (n.5059-17C>T) c.5128-17C>T (n.5128-17C>T) c.4756-17C>T (n.4756-17C>T) c.4912-17C>T (n.4912-17C>T) c.5119-17C>T (n.5119-17C>T) c.4420-17C>T (n.4420-17C>T) c.5167-17C>T (n.5167-17C>T) | dbSNP gnomAD v4 |
| 16 | g.3729891G>C | CA2575893816 | CREBBP | c.5173-17C>G (n.5173-17C>G) c.5059-17C>G (n.5059-17C>G) c.5128-17C>G (n.5128-17C>G) c.4756-17C>G (n.4756-17C>G) c.4912-17C>G (n.4912-17C>G) c.5119-17C>G (n.5119-17C>G) c.4420-17C>G (n.4420-17C>G) c.5167-17C>G (n.5167-17C>G) | gnomAD v4 |
| 16 | g.3729891G= | CA2202916697 | CREBBP | c.5173-17C= (n.5173-17C=) c.5059-17C= (n.5059-17C=) c.5128-17C= (n.5128-17C=) c.4756-17C= (n.4756-17C=) c.4912-17C= (n.4912-17C=) c.5119-17C= (n.5119-17C=) c.4420-17C= (n.4420-17C=) c.5167-17C= (n.5167-17C=) | |
| 16 | g.3729891G>T | CA2631399115 | CREBBP | c.5173-17C>A (n.5173-17C>A) c.5059-17C>A (n.5059-17C>A) c.5128-17C>A (n.5128-17C>A) c.4756-17C>A (n.4756-17C>A) c.4912-17C>A (n.4912-17C>A) c.5119-17C>A (n.5119-17C>A) c.4420-17C>A (n.4420-17C>A) c.5167-17C>A (n.5167-17C>A) | gnomAD v4 |
| 16 | g.3729892G>A | CA620714477 | CREBBP | c.5173-18C>T (n.5173-18C>T) c.5059-18C>T (n.5059-18C>T) c.5128-18C>T (n.5128-18C>T) c.4756-18C>T (n.4756-18C>T) c.4912-18C>T (n.4912-18C>T) c.5119-18C>T (n.5119-18C>T) c.4420-18C>T (n.4420-18C>T) c.5167-18C>T (n.5167-18C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.3729892G>C | CA720718905 | CREBBP | c.5173-18C>G (n.5173-18C>G) c.5059-18C>G (n.5059-18C>G) c.5128-18C>G (n.5128-18C>G) c.4756-18C>G (n.4756-18C>G) c.4912-18C>G (n.4912-18C>G) c.5119-18C>G (n.5119-18C>G) c.4420-18C>G (n.4420-18C>G) c.5167-18C>G (n.5167-18C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.3729892G= | CA2202916701 | CREBBP | c.5173-18C= (n.5173-18C=) c.5059-18C= (n.5059-18C=) c.5128-18C= (n.5128-18C=) c.4756-18C= (n.4756-18C=) c.4912-18C= (n.4912-18C=) c.5119-18C= (n.5119-18C=) c.4420-18C= (n.4420-18C=) c.5167-18C= (n.5167-18C=) | |
| 16 | g.3729892G>T | CA2631399120 | CREBBP | c.5173-18C>A (n.5173-18C>A) c.5059-18C>A (n.5059-18C>A) c.5128-18C>A (n.5128-18C>A) c.4756-18C>A (n.4756-18C>A) c.4912-18C>A (n.4912-18C>A) c.5119-18C>A (n.5119-18C>A) c.4420-18C>A (n.4420-18C>A) c.5167-18C>A (n.5167-18C>A) | gnomAD v4 |
| 16 | g.3729893G>A | CA276972386 | CREBBP | c.5173-19C>T (n.5173-19C>T) c.5059-19C>T (n.5059-19C>T) c.5128-19C>T (n.5128-19C>T) c.4756-19C>T (n.4756-19C>T) c.4912-19C>T (n.4912-19C>T) c.5119-19C>T (n.5119-19C>T) c.4420-19C>T (n.4420-19C>T) c.5167-19C>T (n.5167-19C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.3729893G>C | CA2731570863 | CREBBP | c.5173-19C>G (n.5173-19C>G) c.5059-19C>G (n.5059-19C>G) c.5128-19C>G (n.5128-19C>G) c.4756-19C>G (n.4756-19C>G) c.4912-19C>G (n.4912-19C>G) c.5119-19C>G (n.5119-19C>G) c.4420-19C>G (n.4420-19C>G) c.5167-19C>G (n.5167-19C>G) | dbSNP |
| 16 | g.3729893G= | CA2202916711 | CREBBP | c.5173-19C= (n.5173-19C=) c.5059-19C= (n.5059-19C=) c.5128-19C= (n.5128-19C=) c.4756-19C= (n.4756-19C=) c.4912-19C= (n.4912-19C=) c.5119-19C= (n.5119-19C=) c.4420-19C= (n.4420-19C=) c.5167-19C= (n.5167-19C=) | |
| 16 | g.3729893G>T | CA2575893817 | CREBBP | c.5173-19C>A (n.5173-19C>A) c.5059-19C>A (n.5059-19C>A) c.5128-19C>A (n.5128-19C>A) c.4756-19C>A (n.4756-19C>A) c.4912-19C>A (n.4912-19C>A) c.5119-19C>A (n.5119-19C>A) c.4420-19C>A (n.4420-19C>A) c.5167-19C>A (n.5167-19C>A) | gnomAD v4 |
| 16 | g.3729894A>C | CA2731851223 | CREBBP | c.5173-20T>G (n.5173-20T>G) c.5059-20T>G (n.5059-20T>G) c.5128-20T>G (n.5128-20T>G) c.4756-20T>G (n.4756-20T>G) c.4912-20T>G (n.4912-20T>G) c.5119-20T>G (n.5119-20T>G) c.4420-20T>G (n.4420-20T>G) c.5167-20T>G (n.5167-20T>G) | dbSNP |
| 16 | g.3729894A>G | CA2731851222 | CREBBP | c.5173-20T>C (n.5173-20T>C) c.5059-20T>C (n.5059-20T>C) c.5128-20T>C (n.5128-20T>C) c.4756-20T>C (n.4756-20T>C) c.4912-20T>C (n.4912-20T>C) c.5119-20T>C (n.5119-20T>C) c.4420-20T>C (n.4420-20T>C) c.5167-20T>C (n.5167-20T>C) | dbSNP |
| 16 | g.3729894_3729895delinsAC | CA2202916719 | CREBBP | c.5173-21_5173-20delinsGT (n.5173-21_5173-20delinsGT) c.5059-21_5059-20delinsGT (n.5059-21_5059-20delinsGT) c.5128-21_5128-20delinsGT (n.5128-21_5128-20delinsGT) c.4756-21_4756-20delinsGT (n.4756-21_4756-20delinsGT) c.4912-21_4912-20delinsGT (n.4912-21_4912-20delinsGT) c.5119-21_5119-20delinsGT (n.5119-21_5119-20delinsGT) c.4420-21_4420-20delinsGT (n.4420-21_4420-20delinsGT) c.5167-21_5167-20delinsGT (n.5167-21_5167-20delinsGT) | |
| 16 | g.3729895del | CA620714478 | CREBBP | c.5173-21del (n.5173-21del) c.5059-21del (n.5059-21del) c.5128-21del (n.5128-21del) c.4756-21del (n.4756-21del) c.4912-21del (n.4912-21del) c.5119-21del (n.5119-21del) c.4420-21del (n.4420-21del) c.5167-21del (n.5167-21del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.3729895C= | CA2202916727 | CREBBP | c.5173-21G= (n.5173-21G=) c.5059-21G= (n.5059-21G=) c.5128-21G= (n.5128-21G=) c.4756-21G= (n.4756-21G=) c.4912-21G= (n.4912-21G=) c.5119-21G= (n.5119-21G=) c.4420-21G= (n.4420-21G=) c.5167-21G= (n.5167-21G=) | |
| 16 | g.3729895C>G | CA7869320 | CREBBP | c.5173-21G>C (n.5173-21G>C) c.5059-21G>C (n.5059-21G>C) c.5128-21G>C (n.5128-21G>C) c.4756-21G>C (n.4756-21G>C) c.4912-21G>C (n.4912-21G>C) c.5119-21G>C (n.5119-21G>C) c.4420-21G>C (n.4420-21G>C) c.5167-21G>C (n.5167-21G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.3729895C>T | CA2575893818 | CREBBP | c.5173-21G>A (n.5173-21G>A) c.5059-21G>A (n.5059-21G>A) c.5128-21G>A (n.5128-21G>A) c.4756-21G>A (n.4756-21G>A) c.4912-21G>A (n.4912-21G>A) c.5119-21G>A (n.5119-21G>A) c.4420-21G>A (n.4420-21G>A) c.5167-21G>A (n.5167-21G>A) | gnomAD v4 |
| 16 | g.3729896A= | CA2202916733 | CREBBP | c.5173-22T= (n.5173-22T=) c.5059-22T= (n.5059-22T=) c.5128-22T= (n.5128-22T=) c.4756-22T= (n.4756-22T=) c.4912-22T= (n.4912-22T=) c.5119-22T= (n.5119-22T=) c.4420-22T= (n.4420-22T=) c.5167-22T= (n.5167-22T=) | |
| 16 | g.3729896A>G | CA276972387 | CREBBP | c.5173-22T>C (n.5173-22T>C) c.5059-22T>C (n.5059-22T>C) c.5128-22T>C (n.5128-22T>C) c.4756-22T>C (n.4756-22T>C) c.4912-22T>C (n.4912-22T>C) c.5119-22T>C (n.5119-22T>C) c.4420-22T>C (n.4420-22T>C) c.5167-22T>C (n.5167-22T>C) | dbSNP gnomAD v4 |
| 16 | g.3729897G>A | CA2631399129 | CREBBP | c.5173-23C>T (n.5173-23C>T) c.5059-23C>T (n.5059-23C>T) c.5128-23C>T (n.5128-23C>T) c.4756-23C>T (n.4756-23C>T) c.4912-23C>T (n.4912-23C>T) c.5119-23C>T (n.5119-23C>T) c.4420-23C>T (n.4420-23C>T) c.5167-23C>T (n.5167-23C>T) | dbSNP gnomAD v4 |
| 16 | g.3729897G>C | CA2631399130 | CREBBP | c.5173-23C>G (n.5173-23C>G) c.5059-23C>G (n.5059-23C>G) c.5128-23C>G (n.5128-23C>G) c.4756-23C>G (n.4756-23C>G) c.4912-23C>G (n.4912-23C>G) c.5119-23C>G (n.5119-23C>G) c.4420-23C>G (n.4420-23C>G) c.5167-23C>G (n.5167-23C>G) | gnomAD v4 |
| 16 | g.3729897G>T | CA2631399131 | CREBBP | c.5173-23C>A (n.5173-23C>A) c.5059-23C>A (n.5059-23C>A) c.5128-23C>A (n.5128-23C>A) c.4756-23C>A (n.4756-23C>A) c.4912-23C>A (n.4912-23C>A) c.5119-23C>A (n.5119-23C>A) c.4420-23C>A (n.4420-23C>A) c.5167-23C>A (n.5167-23C>A) | dbSNP gnomAD v4 |
| 16 | g.3729898G>A | CA973904695 | CREBBP | c.5173-24C>T (n.5173-24C>T) c.5059-24C>T (n.5059-24C>T) c.5128-24C>T (n.5128-24C>T) c.4756-24C>T (n.4756-24C>T) c.4912-24C>T (n.4912-24C>T) c.5119-24C>T (n.5119-24C>T) c.4420-24C>T (n.4420-24C>T) c.5167-24C>T (n.5167-24C>T) | dbSNP gnomAD v4 |
| 16 | g.3729898G>C | CA2731646119 | CREBBP | c.5173-24C>G (n.5173-24C>G) c.5059-24C>G (n.5059-24C>G) c.5128-24C>G (n.5128-24C>G) c.4756-24C>G (n.4756-24C>G) c.4912-24C>G (n.4912-24C>G) c.5119-24C>G (n.5119-24C>G) c.4420-24C>G (n.4420-24C>G) c.5167-24C>G (n.5167-24C>G) | dbSNP |
| 16 | g.3729898G= | CA2202916737 | CREBBP | c.5173-24C= (n.5173-24C=) c.5059-24C= (n.5059-24C=) c.5128-24C= (n.5128-24C=) c.4756-24C= (n.4756-24C=) c.4912-24C= (n.4912-24C=) c.5119-24C= (n.5119-24C=) c.4420-24C= (n.4420-24C=) c.5167-24C= (n.5167-24C=) | |
| 16 | g.3729898G>T | CA2631399134 | CREBBP | c.5173-24C>A (n.5173-24C>A) c.5059-24C>A (n.5059-24C>A) c.5128-24C>A (n.5128-24C>A) c.4756-24C>A (n.4756-24C>A) c.4912-24C>A (n.4912-24C>A) c.5119-24C>A (n.5119-24C>A) c.4420-24C>A (n.4420-24C>A) c.5167-24C>A (n.5167-24C>A) | gnomAD v4 |
| 16 | g.3729899C>A | CA2631399136 | CREBBP | c.5173-25G>T (n.5173-25G>T) c.5059-25G>T (n.5059-25G>T) c.5128-25G>T (n.5128-25G>T) c.4756-25G>T (n.4756-25G>T) c.4912-25G>T (n.4912-25G>T) c.5119-25G>T (n.5119-25G>T) c.4420-25G>T (n.4420-25G>T) c.5167-25G>T (n.5167-25G>T) | dbSNP gnomAD v4 |
| 16 | g.3729899C= | CA2202916744 | CREBBP | c.5173-25G= (n.5173-25G=) c.5059-25G= (n.5059-25G=) c.5128-25G= (n.5128-25G=) c.4756-25G= (n.4756-25G=) c.4912-25G= (n.4912-25G=) c.5119-25G= (n.5119-25G=) c.4420-25G= (n.4420-25G=) c.5167-25G= (n.5167-25G=) | |
| 16 | g.3729899C>G | CA2731579110 | CREBBP | c.5173-25G>C (n.5173-25G>C) c.5059-25G>C (n.5059-25G>C) c.5128-25G>C (n.5128-25G>C) c.4756-25G>C (n.4756-25G>C) c.4912-25G>C (n.4912-25G>C) c.5119-25G>C (n.5119-25G>C) c.4420-25G>C (n.4420-25G>C) c.5167-25G>C (n.5167-25G>C) | dbSNP |
| 16 | g.3729899C>T | CA7869321 | CREBBP | c.5173-25G>A (n.5173-25G>A) c.5059-25G>A (n.5059-25G>A) c.5128-25G>A (n.5128-25G>A) c.4756-25G>A (n.4756-25G>A) c.4912-25G>A (n.4912-25G>A) c.5119-25G>A (n.5119-25G>A) c.4420-25G>A (n.4420-25G>A) c.5167-25G>A (n.5167-25G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.3729900C>A | CA2575893819 | CREBBP | c.5173-26G>T (n.5173-26G>T) c.5059-26G>T (n.5059-26G>T) c.5128-26G>T (n.5128-26G>T) c.4756-26G>T (n.4756-26G>T) c.4912-26G>T (n.4912-26G>T) c.5119-26G>T (n.5119-26G>T) c.4420-26G>T (n.4420-26G>T) c.5167-26G>T (n.5167-26G>T) | |
| 16 | g.3729900C= | CA2202916749 | CREBBP | c.5173-26G= (n.5173-26G=) c.5059-26G= (n.5059-26G=) c.5128-26G= (n.5128-26G=) c.4756-26G= (n.4756-26G=) c.4912-26G= (n.4912-26G=) c.5119-26G= (n.5119-26G=) c.4420-26G= (n.4420-26G=) c.5167-26G= (n.5167-26G=) | |
| 16 | g.3729900C>G | CA720718909 | CREBBP | c.5173-26G>C (n.5173-26G>C) c.5059-26G>C (n.5059-26G>C) c.5128-26G>C (n.5128-26G>C) c.4756-26G>C (n.4756-26G>C) c.4912-26G>C (n.4912-26G>C) c.5119-26G>C (n.5119-26G>C) c.4420-26G>C (n.4420-26G>C) c.5167-26G>C (n.5167-26G>C) | dbSNP gnomAD v4 |
| 16 | g.3729900C>T | CA7869322 | CREBBP | c.5173-26G>A (n.5173-26G>A) c.5059-26G>A (n.5059-26G>A) c.5128-26G>A (n.5128-26G>A) c.4756-26G>A (n.4756-26G>A) c.4912-26G>A (n.4912-26G>A) c.5119-26G>A (n.5119-26G>A) c.4420-26G>A (n.4420-26G>A) c.5167-26G>A (n.5167-26G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.3729901G>A | CA7869323 | CREBBP | c.5173-27C>T (n.5173-27C>T) c.5059-27C>T (n.5059-27C>T) c.5128-27C>T (n.5128-27C>T) c.4756-27C>T (n.4756-27C>T) c.4912-27C>T (n.4912-27C>T) c.5119-27C>T (n.5119-27C>T) c.4420-27C>T (n.4420-27C>T) c.5167-27C>T (n.5167-27C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.3729901G= | CA2202916759 | CREBBP | c.5173-27C= (n.5173-27C=) c.5059-27C= (n.5059-27C=) c.5128-27C= (n.5128-27C=) c.4756-27C= (n.4756-27C=) c.4912-27C= (n.4912-27C=) c.5119-27C= (n.5119-27C=) c.4420-27C= (n.4420-27C=) c.5167-27C= (n.5167-27C=) | |
| 16 | g.3729901G>T | CA2631399144 | CREBBP | c.5173-27C>A (n.5173-27C>A) c.5059-27C>A (n.5059-27C>A) c.5128-27C>A (n.5128-27C>A) c.4756-27C>A (n.4756-27C>A) c.4912-27C>A (n.4912-27C>A) c.5119-27C>A (n.5119-27C>A) c.4420-27C>A (n.4420-27C>A) c.5167-27C>A (n.5167-27C>A) | dbSNP gnomAD v4 |
| 16 | g.3729902G>A | CA2631399149 | CREBBP | c.5173-28C>T (n.5173-28C>T) c.5059-28C>T (n.5059-28C>T) c.5128-28C>T (n.5128-28C>T) c.4756-28C>T (n.4756-28C>T) c.4912-28C>T (n.4912-28C>T) c.5119-28C>T (n.5119-28C>T) c.4420-28C>T (n.4420-28C>T) c.5167-28C>T (n.5167-28C>T) | dbSNP gnomAD v4 |
| 16 | g.3729902G>C | CA2575893820 | CREBBP | c.5173-28C>G (n.5173-28C>G) c.5059-28C>G (n.5059-28C>G) c.5128-28C>G (n.5128-28C>G) c.4756-28C>G (n.4756-28C>G) c.4912-28C>G (n.4912-28C>G) c.5119-28C>G (n.5119-28C>G) c.4420-28C>G (n.4420-28C>G) c.5167-28C>G (n.5167-28C>G) | dbSNP gnomAD v4 |
| 16 | g.3729902G= | CA2202916764 | CREBBP | c.5173-28C= (n.5173-28C=) c.5059-28C= (n.5059-28C=) c.5128-28C= (n.5128-28C=) c.4756-28C= (n.4756-28C=) c.4912-28C= (n.4912-28C=) c.5119-28C= (n.5119-28C=) c.4420-28C= (n.4420-28C=) c.5167-28C= (n.5167-28C=) | |
| 16 | g.3729902G>T | CA2202916766 | CREBBP | c.5173-28C>A (n.5173-28C>A) c.5059-28C>A (n.5059-28C>A) c.5128-28C>A (n.5128-28C>A) c.4756-28C>A (n.4756-28C>A) c.4912-28C>A (n.4912-28C>A) c.5119-28C>A (n.5119-28C>A) c.4420-28C>A (n.4420-28C>A) c.5167-28C>A (n.5167-28C>A) | dbSNP gnomAD v4 |
| 16 | g.3729903T>A | CA2202916770 | CREBBP | c.5173-29A>T (n.5173-29A>T) c.5059-29A>T (n.5059-29A>T) c.5128-29A>T (n.5128-29A>T) c.4756-29A>T (n.4756-29A>T) c.4912-29A>T (n.4912-29A>T) c.5119-29A>T (n.5119-29A>T) c.4420-29A>T (n.4420-29A>T) c.5167-29A>T (n.5167-29A>T) | dbSNP gnomAD v4 |
| 16 | g.3729903T= | CA2202916768 | CREBBP | c.5173-29A= (n.5173-29A=) c.5059-29A= (n.5059-29A=) c.5128-29A= (n.5128-29A=) c.4756-29A= (n.4756-29A=) c.4912-29A= (n.4912-29A=) c.5119-29A= (n.5119-29A=) c.4420-29A= (n.4420-29A=) c.5167-29A= (n.5167-29A=) | |
| 16 | g.3729904G>A | CA2631399152 | CREBBP | c.5173-30C>T (n.5173-30C>T) c.5059-30C>T (n.5059-30C>T) c.5128-30C>T (n.5128-30C>T) c.4756-30C>T (n.4756-30C>T) c.4912-30C>T (n.4912-30C>T) c.5119-30C>T (n.5119-30C>T) c.4420-30C>T (n.4420-30C>T) c.5167-30C>T (n.5167-30C>T) | dbSNP gnomAD v4 |
| 16 | g.3729904G>C | CA2731851224 | CREBBP | c.5173-30C>G (n.5173-30C>G) c.5059-30C>G (n.5059-30C>G) c.5128-30C>G (n.5128-30C>G) c.4756-30C>G (n.4756-30C>G) c.4912-30C>G (n.4912-30C>G) c.5119-30C>G (n.5119-30C>G) c.4420-30C>G (n.4420-30C>G) c.5167-30C>G (n.5167-30C>G) | dbSNP |
| 16 | g.3729905T>A | CA2731646121 | CREBBP | c.5173-31A>T (n.5173-31A>T) c.5059-31A>T (n.5059-31A>T) c.5128-31A>T (n.5128-31A>T) c.4756-31A>T (n.4756-31A>T) c.4912-31A>T (n.4912-31A>T) c.5119-31A>T (n.5119-31A>T) c.4420-31A>T (n.4420-31A>T) c.5167-31A>T (n.5167-31A>T) | dbSNP |
| 16 | g.3729905T>C | CA2731646120 | CREBBP | c.5173-31A>G (n.5173-31A>G) c.5059-31A>G (n.5059-31A>G) c.5128-31A>G (n.5128-31A>G) c.4756-31A>G (n.4756-31A>G) c.4912-31A>G (n.4912-31A>G) c.5119-31A>G (n.5119-31A>G) c.4420-31A>G (n.4420-31A>G) c.5167-31A>G (n.5167-31A>G) | dbSNP |
| 16 | g.3729905T>G | CA2202916774 | CREBBP | c.5173-31A>C (n.5173-31A>C) c.5059-31A>C (n.5059-31A>C) c.5128-31A>C (n.5128-31A>C) c.4756-31A>C (n.4756-31A>C) c.4912-31A>C (n.4912-31A>C) c.5119-31A>C (n.5119-31A>C) c.4420-31A>C (n.4420-31A>C) c.5167-31A>C (n.5167-31A>C) | dbSNP |
| 16 | g.3729905T= | CA2202916773 | CREBBP | c.5173-31A= (n.5173-31A=) c.5059-31A= (n.5059-31A=) c.5128-31A= (n.5128-31A=) c.4756-31A= (n.4756-31A=) c.4912-31A= (n.4912-31A=) c.5119-31A= (n.5119-31A=) c.4420-31A= (n.4420-31A=) c.5167-31A= (n.5167-31A=) | |
| 16 | g.3729906C>A | CA620714479 | CREBBP | c.5173-32G>T (n.5173-32G>T) c.5059-32G>T (n.5059-32G>T) c.5128-32G>T (n.5128-32G>T) c.4756-32G>T (n.4756-32G>T) c.4912-32G>T (n.4912-32G>T) c.5119-32G>T (n.5119-32G>T) c.4420-32G>T (n.4420-32G>T) c.5167-32G>T (n.5167-32G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.3729906C= | CA2202916779 | CREBBP | c.5173-32G= (n.5173-32G=) c.5059-32G= (n.5059-32G=) c.5128-32G= (n.5128-32G=) c.4756-32G= (n.4756-32G=) c.4912-32G= (n.4912-32G=) c.5119-32G= (n.5119-32G=) c.4420-32G= (n.4420-32G=) c.5167-32G= (n.5167-32G=) | |
| 16 | g.3729906C>G | CA2731601051 | CREBBP | c.5173-32G>C (n.5173-32G>C) c.5059-32G>C (n.5059-32G>C) c.5128-32G>C (n.5128-32G>C) c.4756-32G>C (n.4756-32G>C) c.4912-32G>C (n.4912-32G>C) c.5119-32G>C (n.5119-32G>C) c.4420-32G>C (n.4420-32G>C) c.5167-32G>C (n.5167-32G>C) | dbSNP |
| 16 | g.3729907A>G | CA2731851225 | CREBBP | c.5173-33T>C (n.5173-33T>C) c.5059-33T>C (n.5059-33T>C) c.5128-33T>C (n.5128-33T>C) c.4756-33T>C (n.4756-33T>C) c.4912-33T>C (n.4912-33T>C) c.5119-33T>C (n.5119-33T>C) c.4420-33T>C (n.4420-33T>C) c.5167-33T>C (n.5167-33T>C) | dbSNP |
| 16 | g.3729908G>A | CA2631399154 | CREBBP | c.5173-34C>T (n.5173-34C>T) c.5059-34C>T (n.5059-34C>T) c.5128-34C>T (n.5128-34C>T) c.4756-34C>T (n.4756-34C>T) c.4912-34C>T (n.4912-34C>T) c.5119-34C>T (n.5119-34C>T) c.4420-34C>T (n.4420-34C>T) c.5167-34C>T (n.5167-34C>T) | dbSNP gnomAD v4 |
| 16 | g.3729908G>C | CA2631399155 | CREBBP | c.5173-34C>G (n.5173-34C>G) c.5059-34C>G (n.5059-34C>G) c.5128-34C>G (n.5128-34C>G) c.4756-34C>G (n.4756-34C>G) c.4912-34C>G (n.4912-34C>G) c.5119-34C>G (n.5119-34C>G) c.4420-34C>G (n.4420-34C>G) c.5167-34C>G (n.5167-34C>G) | dbSNP gnomAD v4 |
| 16 | g.3729908G>T | CA2631399156 | CREBBP | c.5173-34C>A (n.5173-34C>A) c.5059-34C>A (n.5059-34C>A) c.5128-34C>A (n.5128-34C>A) c.4756-34C>A (n.4756-34C>A) c.4912-34C>A (n.4912-34C>A) c.5119-34C>A (n.5119-34C>A) c.4420-34C>A (n.4420-34C>A) c.5167-34C>A (n.5167-34C>A) | dbSNP gnomAD v4 |
| 16 | g.3729909C>A | CA2731851228 | CREBBP | c.5173-35G>T (n.5173-35G>T) c.5059-35G>T (n.5059-35G>T) c.5128-35G>T (n.5128-35G>T) c.4756-35G>T (n.4756-35G>T) c.4912-35G>T (n.4912-35G>T) c.5119-35G>T (n.5119-35G>T) c.4420-35G>T (n.4420-35G>T) c.5167-35G>T (n.5167-35G>T) | dbSNP |
| 16 | g.3729909C>G | CA2731851227 | CREBBP | c.5173-35G>C (n.5173-35G>C) c.5059-35G>C (n.5059-35G>C) c.5128-35G>C (n.5128-35G>C) c.4756-35G>C (n.4756-35G>C) c.4912-35G>C (n.4912-35G>C) c.5119-35G>C (n.5119-35G>C) c.4420-35G>C (n.4420-35G>C) c.5167-35G>C (n.5167-35G>C) | dbSNP |
| 16 | g.3729909C>T | CA2731851226 | CREBBP | c.5173-35G>A (n.5173-35G>A) c.5059-35G>A (n.5059-35G>A) c.5128-35G>A (n.5128-35G>A) c.4756-35G>A (n.4756-35G>A) c.4912-35G>A (n.4912-35G>A) c.5119-35G>A (n.5119-35G>A) c.4420-35G>A (n.4420-35G>A) c.5167-35G>A (n.5167-35G>A) | dbSNP |
| 16 | g.3729911T>C | CA620714480 | CREBBP | c.5173-37A>G (n.5173-37A>G) c.5059-37A>G (n.5059-37A>G) c.5128-37A>G (n.5128-37A>G) c.4756-37A>G (n.4756-37A>G) c.4912-37A>G (n.4912-37A>G) c.5119-37A>G (n.5119-37A>G) c.4420-37A>G (n.4420-37A>G) c.5167-37A>G (n.5167-37A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.3729911T= | CA2202916781 | CREBBP | c.5173-37A= (n.5173-37A=) c.5059-37A= (n.5059-37A=) c.5128-37A= (n.5128-37A=) c.4756-37A= (n.4756-37A=) c.4912-37A= (n.4912-37A=) c.5119-37A= (n.5119-37A=) c.4420-37A= (n.4420-37A=) c.5167-37A= (n.5167-37A=) | |
| 16 | g.3729912G>A | CA2731851229 | CREBBP | c.5173-38C>T (n.5173-38C>T) c.5059-38C>T (n.5059-38C>T) c.5128-38C>T (n.5128-38C>T) c.4756-38C>T (n.4756-38C>T) c.4912-38C>T (n.4912-38C>T) c.5119-38C>T (n.5119-38C>T) c.4420-38C>T (n.4420-38C>T) c.5167-38C>T (n.5167-38C>T) | dbSNP |
| 16 | g.3729914del | CA2805632989 | CREBBP | c.5173-38del (n.5173-38del) c.5059-38del (n.5059-38del) c.5128-38del (n.5128-38del) c.4756-38del (n.4756-38del) c.4912-38del (n.4912-38del) c.5119-38del (n.5119-38del) c.4420-38del (n.4420-38del) c.5167-38del (n.5167-38del) | |
| 16 | g.3729913G>A | CA2631399159 | CREBBP | c.5173-39C>T (n.5173-39C>T) c.5059-39C>T (n.5059-39C>T) c.5128-39C>T (n.5128-39C>T) c.4756-39C>T (n.4756-39C>T) c.4912-39C>T (n.4912-39C>T) c.5119-39C>T (n.5119-39C>T) c.4420-39C>T (n.4420-39C>T) c.5167-39C>T (n.5167-39C>T) | dbSNP gnomAD v4 |
| 16 | g.3729913G>C | CA973904701 | CREBBP | c.5173-39C>G (n.5173-39C>G) c.5059-39C>G (n.5059-39C>G) c.5128-39C>G (n.5128-39C>G) c.4756-39C>G (n.4756-39C>G) c.4912-39C>G (n.4912-39C>G) c.5119-39C>G (n.5119-39C>G) c.4420-39C>G (n.4420-39C>G) c.5167-39C>G (n.5167-39C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.3729913G= | CA2202916785 | CREBBP | c.5173-39C= (n.5173-39C=) c.5059-39C= (n.5059-39C=) c.5128-39C= (n.5128-39C=) c.4756-39C= (n.4756-39C=) c.4912-39C= (n.4912-39C=) c.5119-39C= (n.5119-39C=) c.4420-39C= (n.4420-39C=) c.5167-39C= (n.5167-39C=) | |
| 16 | g.3729913G>T | CA2631399160 | CREBBP | c.5173-39C>A (n.5173-39C>A) c.5059-39C>A (n.5059-39C>A) c.5128-39C>A (n.5128-39C>A) c.4756-39C>A (n.4756-39C>A) c.4912-39C>A (n.4912-39C>A) c.5119-39C>A (n.5119-39C>A) c.4420-39C>A (n.4420-39C>A) c.5167-39C>A (n.5167-39C>A) | dbSNP gnomAD v4 |
| 16 | g.3729914G>T | CA2631399163 | CREBBP | c.5173-40C>A (n.5173-40C>A) c.5059-40C>A (n.5059-40C>A) c.5128-40C>A (n.5128-40C>A) c.4756-40C>A (n.4756-40C>A) c.4912-40C>A (n.4912-40C>A) c.5119-40C>A (n.5119-40C>A) c.4420-40C>A (n.4420-40C>A) c.5167-40C>A (n.5167-40C>A) | gnomAD v4 |
| 16 | g.3729915A>G | CA2631399164 | CREBBP | c.5173-41T>C (n.5173-41T>C) c.5059-41T>C (n.5059-41T>C) c.5128-41T>C (n.5128-41T>C) c.4756-41T>C (n.4756-41T>C) c.4912-41T>C (n.4912-41T>C) c.5119-41T>C (n.5119-41T>C) c.4420-41T>C (n.4420-41T>C) c.5167-41T>C (n.5167-41T>C) | gnomAD v4 |
| 16 | g.3729916C>A | CA2731579636 | CREBBP | c.5173-42G>T (n.5173-42G>T) c.5059-42G>T (n.5059-42G>T) c.5128-42G>T (n.5128-42G>T) c.4756-42G>T (n.4756-42G>T) c.4912-42G>T (n.4912-42G>T) c.5119-42G>T (n.5119-42G>T) c.4420-42G>T (n.4420-42G>T) c.5167-42G>T (n.5167-42G>T) | dbSNP |
| 16 | g.3729916C= | CA2202916788 | CREBBP | c.5173-42G= (n.5173-42G=) c.5059-42G= (n.5059-42G=) c.5128-42G= (n.5128-42G=) c.4756-42G= (n.4756-42G=) c.4912-42G= (n.4912-42G=) c.5119-42G= (n.5119-42G=) c.4420-42G= (n.4420-42G=) c.5167-42G= (n.5167-42G=) | |
| 16 | g.3729916C>G | CA2731579637 | CREBBP | c.5173-42G>C (n.5173-42G>C) c.5059-42G>C (n.5059-42G>C) c.5128-42G>C (n.5128-42G>C) c.4756-42G>C (n.4756-42G>C) c.4912-42G>C (n.4912-42G>C) c.5119-42G>C (n.5119-42G>C) c.4420-42G>C (n.4420-42G>C) c.5167-42G>C (n.5167-42G>C) | dbSNP |
| 16 | g.3729916C>T | CA7869324 | CREBBP | c.5173-42G>A (n.5173-42G>A) c.5059-42G>A (n.5059-42G>A) c.5128-42G>A (n.5128-42G>A) c.4756-42G>A (n.4756-42G>A) c.4912-42G>A (n.4912-42G>A) c.5119-42G>A (n.5119-42G>A) c.4420-42G>A (n.4420-42G>A) c.5167-42G>A (n.5167-42G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.3729917C>A | CA2631399167 | CREBBP | c.5173-43G>T (n.5173-43G>T) c.5059-43G>T (n.5059-43G>T) c.5128-43G>T (n.5128-43G>T) c.4756-43G>T (n.4756-43G>T) c.4912-43G>T (n.4912-43G>T) c.5119-43G>T (n.5119-43G>T) c.4420-43G>T (n.4420-43G>T) c.5167-43G>T (n.5167-43G>T) | dbSNP gnomAD v4 |
| 16 | g.3729917C>G | CA2731851230 | CREBBP | c.5173-43G>C (n.5173-43G>C) c.5059-43G>C (n.5059-43G>C) c.5128-43G>C (n.5128-43G>C) c.4756-43G>C (n.4756-43G>C) c.4912-43G>C (n.4912-43G>C) c.5119-43G>C (n.5119-43G>C) c.4420-43G>C (n.4420-43G>C) c.5167-43G>C (n.5167-43G>C) | dbSNP |
| 16 | g.3729917C>T | CA2631399168 | CREBBP | c.5173-43G>A (n.5173-43G>A) c.5059-43G>A (n.5059-43G>A) c.5128-43G>A (n.5128-43G>A) c.4756-43G>A (n.4756-43G>A) c.4912-43G>A (n.4912-43G>A) c.5119-43G>A (n.5119-43G>A) c.4420-43G>A (n.4420-43G>A) c.5167-43G>A (n.5167-43G>A) | dbSNP gnomAD v4 |
| 16 | g.3729918C>A | CA973904702 | CREBBP | c.5173-44G>T (n.5173-44G>T) c.5059-44G>T (n.5059-44G>T) c.5128-44G>T (n.5128-44G>T) c.4756-44G>T (n.4756-44G>T) c.4912-44G>T (n.4912-44G>T) c.5119-44G>T (n.5119-44G>T) c.4420-44G>T (n.4420-44G>T) c.5167-44G>T (n.5167-44G>T) | dbSNP |
| 16 | g.3729918C= | CA2202916791 | CREBBP | c.5173-44G= (n.5173-44G=) c.5059-44G= (n.5059-44G=) c.5128-44G= (n.5128-44G=) c.4756-44G= (n.4756-44G=) c.4912-44G= (n.4912-44G=) c.5119-44G= (n.5119-44G=) c.4420-44G= (n.4420-44G=) c.5167-44G= (n.5167-44G=) | |
| 16 | g.3729918C>G | CA2731646123 | CREBBP | c.5173-44G>C (n.5173-44G>C) c.5059-44G>C (n.5059-44G>C) c.5128-44G>C (n.5128-44G>C) c.4756-44G>C (n.4756-44G>C) c.4912-44G>C (n.4912-44G>C) c.5119-44G>C (n.5119-44G>C) c.4420-44G>C (n.4420-44G>C) c.5167-44G>C (n.5167-44G>C) | dbSNP |
| 16 | g.3729919A= | CA2202916795 | CREBBP | c.5173-45T= (n.5173-45T=) c.5059-45T= (n.5059-45T=) c.5128-45T= (n.5128-45T=) c.4756-45T= (n.4756-45T=) c.4912-45T= (n.4912-45T=) c.5119-45T= (n.5119-45T=) c.4420-45T= (n.4420-45T=) c.5167-45T= (n.5167-45T=) | |
| 16 | g.3729919A>G | CA7869325 | CREBBP | c.5173-45T>C (n.5173-45T>C) c.5059-45T>C (n.5059-45T>C) c.5128-45T>C (n.5128-45T>C) c.4756-45T>C (n.4756-45T>C) c.4912-45T>C (n.4912-45T>C) c.5119-45T>C (n.5119-45T>C) c.4420-45T>C (n.4420-45T>C) c.5167-45T>C (n.5167-45T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.3729919A>T | CA2731576258 | CREBBP | c.5173-45T>A (n.5173-45T>A) c.5059-45T>A (n.5059-45T>A) c.5128-45T>A (n.5128-45T>A) c.4756-45T>A (n.4756-45T>A) c.4912-45T>A (n.4912-45T>A) c.5119-45T>A (n.5119-45T>A) c.4420-45T>A (n.4420-45T>A) c.5167-45T>A (n.5167-45T>A) | dbSNP |