Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.3729620_3729691delCA658658387CREBBPc.5361_5432del (p.Asn1787_Arg1810del)
c.5247_5318del (p.Asn1749_Arg1772del)
c.5316_5387del (p.Asn1772_Arg1795del)
c.4944_5015del (p.Asn1648_Arg1671del)
c.5100_5171del (p.Asn1700_Arg1723del)
c.5307_5378del (p.Asn1769_Arg1792del)
c.4608_4679del (p.Asn1536_Arg1559del)
c.5355_5426del (p.Asn1785_Arg1808del)
ClinVar dbSNP
16g.3729689G>ACA493394175CREBBPc.5358C>T (p.Arg1786=)
c.5244C>T (p.Arg1748=)
c.5313C>T (p.Arg1771=)
c.4941C>T (p.Arg1647=)
c.5097C>T (p.Arg1699=)
c.5304C>T (p.Arg1768=)
c.4605C>T (p.Arg1535=)
c.5352C>T (p.Arg1784=)
dbSNP gnomAD v2 gnomAD v4
16g.3729689G>CCA493394176CREBBPc.5358C>G (p.Arg1786=)
c.5244C>G (p.Arg1748=)
c.5313C>G (p.Arg1771=)
c.4941C>G (p.Arg1647=)
c.5097C>G (p.Arg1699=)
c.5304C>G (p.Arg1768=)
c.4605C>G (p.Arg1535=)
c.5352C>G (p.Arg1784=)
16g.3729689G=CA2202916490CREBBPc.5358C= (p.Arg1786=)
c.5244C= (p.Arg1748=)
c.5313C= (p.Arg1771=)
c.4941C= (p.Arg1647=)
c.5097C= (p.Arg1699=)
c.5304C= (p.Arg1768=)
c.4605C= (p.Arg1535=)
c.5352C= (p.Arg1784=)
16g.3729689G>TCA493394177CREBBPc.5358C>A (p.Arg1786=)
c.5244C>A (p.Arg1748=)
c.5313C>A (p.Arg1771=)
c.4941C>A (p.Arg1647=)
c.5097C>A (p.Arg1699=)
c.5304C>A (p.Arg1768=)
c.4605C>A (p.Arg1535=)
c.5352C>A (p.Arg1784=)
gnomAD v4
16g.3729690C>ACA394557060CREBBPc.5357G>T (p.Arg1786Leu)
c.5243G>T (p.Arg1748Leu)
c.5312G>T (p.Arg1771Leu)
c.4940G>T (p.Arg1647Leu)
c.5096G>T (p.Arg1699Leu)
c.5303G>T (p.Arg1768Leu)
c.4604G>T (p.Arg1535Leu)
c.5351G>T (p.Arg1784Leu)
dbSNP
16g.3729690C=CA2202916491CREBBPc.5357G= (p.Arg1786=)
c.5243G= (p.Arg1748=)
c.5312G= (p.Arg1771=)
c.4940G= (p.Arg1647=)
c.5096G= (p.Arg1699=)
c.5303G= (p.Arg1768=)
c.4604G= (p.Arg1535=)
c.5351G= (p.Arg1784=)
16g.3729690C>GCA394557061CREBBPc.5357G>C (p.Arg1786Pro)
c.5243G>C (p.Arg1748Pro)
c.5312G>C (p.Arg1771Pro)
c.4940G>C (p.Arg1647Pro)
c.5096G>C (p.Arg1699Pro)
c.5303G>C (p.Arg1768Pro)
c.4604G>C (p.Arg1535Pro)
c.5351G>C (p.Arg1784Pro)
ClinVar dbSNP
16g.3729690C>TCA276972266CREBBPc.5357G>A (p.Arg1786His)
c.5243G>A (p.Arg1748His)
c.5312G>A (p.Arg1771His)
c.4940G>A (p.Arg1647His)
c.5096G>A (p.Arg1699His)
c.5303G>A (p.Arg1768His)
c.4604G>A (p.Arg1535His)
c.5351G>A (p.Arg1784His)
ClinVar dbSNP
16g.3729691G>ACA394557062CREBBPc.5356C>T (p.Arg1786Cys)
c.5242C>T (p.Arg1748Cys)
c.5311C>T (p.Arg1771Cys)
c.4939C>T (p.Arg1647Cys)
c.5095C>T (p.Arg1699Cys)
c.5302C>T (p.Arg1768Cys)
c.4603C>T (p.Arg1535Cys)
c.5350C>T (p.Arg1784Cys)
ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC
16g.3729691G>CCA394557063CREBBPc.5356C>G (p.Arg1786Gly)
c.5242C>G (p.Arg1748Gly)
c.5311C>G (p.Arg1771Gly)
c.4939C>G (p.Arg1647Gly)
c.5095C>G (p.Arg1699Gly)
c.5302C>G (p.Arg1768Gly)
c.4603C>G (p.Arg1535Gly)
c.5350C>G (p.Arg1784Gly)
ClinVar dbSNP
16g.3729691G=CA2202916492CREBBPc.5356C= (p.Arg1786=)
c.5242C= (p.Arg1748=)
c.5311C= (p.Arg1771=)
c.4939C= (p.Arg1647=)
c.5095C= (p.Arg1699=)
c.5302C= (p.Arg1768=)
c.4603C= (p.Arg1535=)
c.5350C= (p.Arg1784=)
16g.3729691G>TCA394557064CREBBPc.5356C>A (p.Arg1786Ser)
c.5242C>A (p.Arg1748Ser)
c.5311C>A (p.Arg1771Ser)
c.4939C>A (p.Arg1647Ser)
c.5095C>A (p.Arg1699Ser)
c.5302C>A (p.Arg1768Ser)
c.4603C>A (p.Arg1535Ser)
c.5350C>A (p.Arg1784Ser)
dbSNP
16g.3729696_3729701dupCA658791853CREBBPc.5351_5356dup (p.Cys1785_Arg1786insGlnCys)
c.5237_5242dup (p.Cys1747_Arg1748insGlnCys)
c.5306_5311dup (p.Cys1770_Arg1771insGlnCys)
c.4934_4939dup (p.Cys1646_Arg1647insGlnCys)
c.5090_5095dup (p.Cys1698_Arg1699insGlnCys)
c.5297_5302dup (p.Cys1767_Arg1768insGlnCys)
c.4598_4603dup (p.Cys1534_Arg1535insGlnCys)
c.5345_5350dup (p.Cys1783_Arg1784insGlnCys)
16g.3729692G>ACA493394179CREBBPc.5355C>T (p.Cys1785=)
c.5241C>T (p.Cys1747=)
c.5310C>T (p.Cys1770=)
c.4938C>T (p.Cys1646=)
c.5094C>T (p.Cys1698=)
c.5301C>T (p.Cys1767=)
c.4602C>T (p.Cys1534=)
c.5349C>T (p.Cys1783=)
dbSNP
16g.3729692G>CCA394557065CREBBPc.5355C>G (p.Cys1785Trp)
c.5241C>G (p.Cys1747Trp)
c.5310C>G (p.Cys1770Trp)
c.4938C>G (p.Cys1646Trp)
c.5094C>G (p.Cys1698Trp)
c.5301C>G (p.Cys1767Trp)
c.4602C>G (p.Cys1534Trp)
c.5349C>G (p.Cys1783Trp)
dbSNP
16g.3729692G=CA2202916493CREBBPc.5355C= (p.Cys1785=)
c.5241C= (p.Cys1747=)
c.5310C= (p.Cys1770=)
c.4938C= (p.Cys1646=)
c.5094C= (p.Cys1698=)
c.5301C= (p.Cys1767=)
c.4602C= (p.Cys1534=)
c.5349C= (p.Cys1783=)
16g.3729692G>TCA394557066CREBBPc.5355C>A (p.Cys1785Ter)
c.5241C>A (p.Cys1747Ter)
c.5310C>A (p.Cys1770Ter)
c.4938C>A (p.Cys1646Ter)
c.5094C>A (p.Cys1698Ter)
c.5301C>A (p.Cys1767Ter)
c.4602C>A (p.Cys1534Ter)
c.5349C>A (p.Cys1783Ter)
16g.3729693C>ACA394557067CREBBPc.5354G>T (p.Cys1785Phe)
c.5240G>T (p.Cys1747Phe)
c.5309G>T (p.Cys1770Phe)
c.4937G>T (p.Cys1646Phe)
c.5093G>T (p.Cys1698Phe)
c.5300G>T (p.Cys1767Phe)
c.4601G>T (p.Cys1534Phe)
c.5348G>T (p.Cys1783Phe)
dbSNP
16g.3729693C=CA2202916494CREBBPc.5354G= (p.Cys1785=)
c.5240G= (p.Cys1747=)
c.5309G= (p.Cys1770=)
c.4937G= (p.Cys1646=)
c.5093G= (p.Cys1698=)
c.5300G= (p.Cys1767=)
c.4601G= (p.Cys1534=)
c.5348G= (p.Cys1783=)
16g.3729693C>GCA394557068CREBBPc.5354G>C (p.Cys1785Ser)
c.5240G>C (p.Cys1747Ser)
c.5309G>C (p.Cys1770Ser)
c.4937G>C (p.Cys1646Ser)
c.5093G>C (p.Cys1698Ser)
c.5300G>C (p.Cys1767Ser)
c.4601G>C (p.Cys1534Ser)
c.5348G>C (p.Cys1783Ser)
dbSNP
16g.3729693C>TCA394557069CREBBPc.5354G>A (p.Cys1785Tyr)
c.5240G>A (p.Cys1747Tyr)
c.5309G>A (p.Cys1770Tyr)
c.4937G>A (p.Cys1646Tyr)
c.5093G>A (p.Cys1698Tyr)
c.5300G>A (p.Cys1767Tyr)
c.4601G>A (p.Cys1534Tyr)
c.5348G>A (p.Cys1783Tyr)
dbSNP gnomAD v2
16g.3729694A>CCA394557070CREBBPc.5353T>G (p.Cys1785Gly)
c.5239T>G (p.Cys1747Gly)
c.5308T>G (p.Cys1770Gly)
c.4936T>G (p.Cys1646Gly)
c.5092T>G (p.Cys1698Gly)
c.5299T>G (p.Cys1767Gly)
c.4600T>G (p.Cys1534Gly)
c.5347T>G (p.Cys1783Gly)
dbSNP
16g.3729694A>GCA394557071CREBBPc.5353T>C (p.Cys1785Arg)
c.5239T>C (p.Cys1747Arg)
c.5308T>C (p.Cys1770Arg)
c.4936T>C (p.Cys1646Arg)
c.5092T>C (p.Cys1698Arg)
c.5299T>C (p.Cys1767Arg)
c.4600T>C (p.Cys1534Arg)
c.5347T>C (p.Cys1783Arg)
dbSNP
16g.3729694A>TCA394557072CREBBPc.5353T>A (p.Cys1785Ser)
c.5239T>A (p.Cys1747Ser)
c.5308T>A (p.Cys1770Ser)
c.4936T>A (p.Cys1646Ser)
c.5092T>A (p.Cys1698Ser)
c.5299T>A (p.Cys1767Ser)
c.4600T>A (p.Cys1534Ser)
c.5347T>A (p.Cys1783Ser)
dbSNP
16g.3729695C>ACA394557074CREBBPc.5352G>T (p.Gln1784His)
c.5238G>T (p.Gln1746His)
c.5307G>T (p.Gln1769His)
c.4935G>T (p.Gln1645His)
c.5091G>T (p.Gln1697His)
c.5298G>T (p.Gln1766His)
c.4599G>T (p.Gln1533His)
c.5346G>T (p.Gln1782His)
ClinVar
16g.3729695C=CA2202916495CREBBPc.5352G= (p.Gln1784=)
c.5238G= (p.Gln1746=)
c.5307G= (p.Gln1769=)
c.4935G= (p.Gln1645=)
c.5091G= (p.Gln1697=)
c.5298G= (p.Gln1766=)
c.4599G= (p.Gln1533=)
c.5346G= (p.Gln1782=)
16g.3729695C>GCA394557073CREBBPc.5352G>C (p.Gln1784His)
c.5238G>C (p.Gln1746His)
c.5307G>C (p.Gln1769His)
c.4935G>C (p.Gln1645His)
c.5091G>C (p.Gln1697His)
c.5298G>C (p.Gln1766His)
c.4599G>C (p.Gln1533His)
c.5346G>C (p.Gln1782His)
dbSNP
16g.3729695C>TCA7869288CREBBPc.5352G>A (p.Gln1784=)
c.5238G>A (p.Gln1746=)
c.5307G>A (p.Gln1769=)
c.4935G>A (p.Gln1645=)
c.5091G>A (p.Gln1697=)
c.5298G>A (p.Gln1766=)
c.4599G>A (p.Gln1533=)
c.5346G>A (p.Gln1782=)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.3729696T>ACA394557076CREBBPc.5351A>T (p.Gln1784Leu)
c.5237A>T (p.Gln1746Leu)
c.5306A>T (p.Gln1769Leu)
c.4934A>T (p.Gln1645Leu)
c.5090A>T (p.Gln1697Leu)
c.5297A>T (p.Gln1766Leu)
c.4598A>T (p.Gln1533Leu)
c.5345A>T (p.Gln1782Leu)
16g.3729696T>CCA394557075CREBBPc.5351A>G (p.Gln1784Arg)
c.5237A>G (p.Gln1746Arg)
c.5306A>G (p.Gln1769Arg)
c.4934A>G (p.Gln1645Arg)
c.5090A>G (p.Gln1697Arg)
c.5297A>G (p.Gln1766Arg)
c.4598A>G (p.Gln1533Arg)
c.5345A>G (p.Gln1782Arg)
16g.3729696T>GCA394557077CREBBPc.5351A>C (p.Gln1784Pro)
c.5237A>C (p.Gln1746Pro)
c.5306A>C (p.Gln1769Pro)
c.4934A>C (p.Gln1645Pro)
c.5090A>C (p.Gln1697Pro)
c.5297A>C (p.Gln1766Pro)
c.4598A>C (p.Gln1533Pro)
c.5345A>C (p.Gln1782Pro)
16g.3729697G>ACA394557078CREBBPc.5350C>T (p.Gln1784Ter)
c.5236C>T (p.Gln1746Ter)
c.5305C>T (p.Gln1769Ter)
c.4933C>T (p.Gln1645Ter)
c.5089C>T (p.Gln1697Ter)
c.5296C>T (p.Gln1766Ter)
c.4597C>T (p.Gln1533Ter)
c.5344C>T (p.Gln1782Ter)
dbSNP
16g.3729697G>CCA394557079CREBBPc.5350C>G (p.Gln1784Glu)
c.5236C>G (p.Gln1746Glu)
c.5305C>G (p.Gln1769Glu)
c.4933C>G (p.Gln1645Glu)
c.5089C>G (p.Gln1697Glu)
c.5296C>G (p.Gln1766Glu)
c.4597C>G (p.Gln1533Glu)
c.5344C>G (p.Gln1782Glu)
dbSNP
16g.3729697G>TCA394557080CREBBPc.5350C>A (p.Gln1784Lys)
c.5236C>A (p.Gln1746Lys)
c.5305C>A (p.Gln1769Lys)
c.4933C>A (p.Gln1645Lys)
c.5089C>A (p.Gln1697Lys)
c.5296C>A (p.Gln1766Lys)
c.4597C>A (p.Gln1533Lys)
c.5344C>A (p.Gln1782Lys)
16g.3729698G>ACA493394183CREBBPc.5349C>T (p.Cys1783=)
c.5235C>T (p.Cys1745=)
c.5304C>T (p.Cys1768=)
c.4932C>T (p.Cys1644=)
c.5088C>T (p.Cys1696=)
c.5295C>T (p.Cys1765=)
c.4596C>T (p.Cys1532=)
c.5343C>T (p.Cys1781=)
dbSNP
16g.3729698G>CCA394557081CREBBPc.5349C>G (p.Cys1783Trp)
c.5235C>G (p.Cys1745Trp)
c.5304C>G (p.Cys1768Trp)
c.4932C>G (p.Cys1644Trp)
c.5088C>G (p.Cys1696Trp)
c.5295C>G (p.Cys1765Trp)
c.4596C>G (p.Cys1532Trp)
c.5343C>G (p.Cys1781Trp)
dbSNP
16g.3729698G>TCA394557082CREBBPc.5349C>A (p.Cys1783Ter)
c.5235C>A (p.Cys1745Ter)
c.5304C>A (p.Cys1768Ter)
c.4932C>A (p.Cys1644Ter)
c.5088C>A (p.Cys1696Ter)
c.5295C>A (p.Cys1765Ter)
c.4596C>A (p.Cys1532Ter)
c.5343C>A (p.Cys1781Ter)
16g.3729699C>ACA394557083CREBBPc.5348G>T (p.Cys1783Phe)
c.5234G>T (p.Cys1745Phe)
c.5303G>T (p.Cys1768Phe)
c.4931G>T (p.Cys1644Phe)
c.5087G>T (p.Cys1696Phe)
c.5294G>T (p.Cys1765Phe)
c.4595G>T (p.Cys1532Phe)
c.5342G>T (p.Cys1781Phe)
ClinVar dbSNP
16g.3729699C>GCA394557084CREBBPc.5348G>C (p.Cys1783Ser)
c.5234G>C (p.Cys1745Ser)
c.5303G>C (p.Cys1768Ser)
c.4931G>C (p.Cys1644Ser)
c.5087G>C (p.Cys1696Ser)
c.5294G>C (p.Cys1765Ser)
c.4595G>C (p.Cys1532Ser)
c.5342G>C (p.Cys1781Ser)
16g.3729699C>TCA394557085CREBBPc.5348G>A (p.Cys1783Tyr)
c.5234G>A (p.Cys1745Tyr)
c.5303G>A (p.Cys1768Tyr)
c.4931G>A (p.Cys1644Tyr)
c.5087G>A (p.Cys1696Tyr)
c.5294G>A (p.Cys1765Tyr)
c.4595G>A (p.Cys1532Tyr)
c.5342G>A (p.Cys1781Tyr)
16g.3729700A>CCA394557086CREBBPc.5347T>G (p.Cys1783Gly)
c.5233T>G (p.Cys1745Gly)
c.5302T>G (p.Cys1768Gly)
c.4930T>G (p.Cys1644Gly)
c.5086T>G (p.Cys1696Gly)
c.5293T>G (p.Cys1765Gly)
c.4594T>G (p.Cys1532Gly)
c.5341T>G (p.Cys1781Gly)
dbSNP
16g.3729700A>GCA394557087CREBBPc.5347T>C (p.Cys1783Arg)
c.5233T>C (p.Cys1745Arg)
c.5302T>C (p.Cys1768Arg)
c.4930T>C (p.Cys1644Arg)
c.5086T>C (p.Cys1696Arg)
c.5293T>C (p.Cys1765Arg)
c.4594T>C (p.Cys1532Arg)
c.5341T>C (p.Cys1781Arg)
dbSNP
16g.3729700A>TCA394557088CREBBPc.5347T>A (p.Cys1783Ser)
c.5233T>A (p.Cys1745Ser)
c.5302T>A (p.Cys1768Ser)
c.4930T>A (p.Cys1644Ser)
c.5086T>A (p.Cys1696Ser)
c.5293T>A (p.Cys1765Ser)
c.4594T>A (p.Cys1532Ser)
c.5341T>A (p.Cys1781Ser)
dbSNP
16g.3729701C>ACA276972275CREBBPc.5346G>T (p.Ala1782=)
c.5232G>T (p.Ala1744=)
c.5301G>T (p.Ala1767=)
c.4929G>T (p.Ala1643=)
c.5085G>T (p.Ala1695=)
c.5292G>T (p.Ala1764=)
c.4593G>T (p.Ala1531=)
c.5340G>T (p.Ala1780=)
dbSNP gnomAD v4
16g.3729701C=CA2202916496CREBBPc.5346G= (p.Ala1782=)
c.5232G= (p.Ala1744=)
c.5301G= (p.Ala1767=)
c.4929G= (p.Ala1643=)
c.5085G= (p.Ala1695=)
c.5292G= (p.Ala1764=)
c.4593G= (p.Ala1531=)
c.5340G= (p.Ala1780=)
16g.3729701C>GCA7869290CREBBPc.5346G>C (p.Ala1782=)
c.5232G>C (p.Ala1744=)
c.5301G>C (p.Ala1767=)
c.4929G>C (p.Ala1643=)
c.5085G>C (p.Ala1695=)
c.5292G>C (p.Ala1764=)
c.4593G>C (p.Ala1531=)
c.5340G>C (p.Ala1780=)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.3729701C>TCA7869289CREBBPc.5346G>A (p.Ala1782=)
c.5232G>A (p.Ala1744=)
c.5301G>A (p.Ala1767=)
c.4929G>A (p.Ala1643=)
c.5085G>A (p.Ala1695=)
c.5292G>A (p.Ala1764=)
c.4593G>A (p.Ala1531=)
c.5340G>A (p.Ala1780=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3729702G>ACA394557089CREBBPc.5345C>T (p.Ala1782Val)
c.5231C>T (p.Ala1744Val)
c.5300C>T (p.Ala1767Val)
c.4928C>T (p.Ala1643Val)
c.5084C>T (p.Ala1695Val)
c.5291C>T (p.Ala1764Val)
c.4592C>T (p.Ala1531Val)
c.5339C>T (p.Ala1780Val)
ClinVar dbSNP gnomAD v4
16g.3729702G>CCA394557090CREBBPc.5345C>G (p.Ala1782Gly)
c.5231C>G (p.Ala1744Gly)
c.5300C>G (p.Ala1767Gly)
c.4928C>G (p.Ala1643Gly)
c.5084C>G (p.Ala1695Gly)
c.5291C>G (p.Ala1764Gly)
c.4592C>G (p.Ala1531Gly)
c.5339C>G (p.Ala1780Gly)
dbSNP
16g.3729702G=CA2202916497CREBBPc.5345C= (p.Ala1782=)
c.5231C= (p.Ala1744=)
c.5300C= (p.Ala1767=)
c.4928C= (p.Ala1643=)
c.5084C= (p.Ala1695=)
c.5291C= (p.Ala1764=)
c.4592C= (p.Ala1531=)
c.5339C= (p.Ala1780=)
16g.3729702G>TCA394557091CREBBPc.5345C>A (p.Ala1782Glu)
c.5231C>A (p.Ala1744Glu)
c.5300C>A (p.Ala1767Glu)
c.4928C>A (p.Ala1643Glu)
c.5084C>A (p.Ala1695Glu)
c.5291C>A (p.Ala1764Glu)
c.4592C>A (p.Ala1531Glu)
c.5339C>A (p.Ala1780Glu)
dbSNP
16g.3729703C>ACA394557092CREBBPc.5344G>T (p.Ala1782Ser)
c.5230G>T (p.Ala1744Ser)
c.5299G>T (p.Ala1767Ser)
c.4927G>T (p.Ala1643Ser)
c.5083G>T (p.Ala1695Ser)
c.5290G>T (p.Ala1764Ser)
c.4591G>T (p.Ala1531Ser)
c.5338G>T (p.Ala1780Ser)
dbSNP gnomAD v4
16g.3729703C=CA2202916498CREBBPc.5344G= (p.Ala1782=)
c.5230G= (p.Ala1744=)
c.5299G= (p.Ala1767=)
c.4927G= (p.Ala1643=)
c.5083G= (p.Ala1695=)
c.5290G= (p.Ala1764=)
c.4591G= (p.Ala1531=)
c.5338G= (p.Ala1780=)
16g.3729703C>GCA394557093CREBBPc.5344G>C (p.Ala1782Pro)
c.5230G>C (p.Ala1744Pro)
c.5299G>C (p.Ala1767Pro)
c.4927G>C (p.Ala1643Pro)
c.5083G>C (p.Ala1695Pro)
c.5290G>C (p.Ala1764Pro)
c.4591G>C (p.Ala1531Pro)
c.5338G>C (p.Ala1780Pro)
dbSNP
16g.3729703C>TCA394557094CREBBPc.5344G>A (p.Ala1782Thr)
c.5230G>A (p.Ala1744Thr)
c.5299G>A (p.Ala1767Thr)
c.4927G>A (p.Ala1643Thr)
c.5083G>A (p.Ala1695Thr)
c.5290G>A (p.Ala1764Thr)
c.4591G>A (p.Ala1531Thr)
c.5338G>A (p.Ala1780Thr)
ClinVar dbSNP COSMIC
16g.3729704G>ACA7869291CREBBPc.5343C>T (p.His1781=)
c.5229C>T (p.His1743=)
c.5298C>T (p.His1766=)
c.4926C>T (p.His1642=)
c.5082C>T (p.His1694=)
c.5289C>T (p.His1763=)
c.4590C>T (p.His1530=)
c.5337C>T (p.His1779=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.3729704G>CCA394557098CREBBPc.5343C>G (p.His1781Gln)
c.5229C>G (p.His1743Gln)
c.5298C>G (p.His1766Gln)
c.4926C>G (p.His1642Gln)
c.5082C>G (p.His1694Gln)
c.5289C>G (p.His1763Gln)
c.4590C>G (p.His1530Gln)
c.5337C>G (p.His1779Gln)
dbSNP
16g.3729704G=CA2202916499CREBBPc.5343C= (p.His1781=)
c.5229C= (p.His1743=)
c.5298C= (p.His1766=)
c.4926C= (p.His1642=)
c.5082C= (p.His1694=)
c.5289C= (p.His1763=)
c.4590C= (p.His1530=)
c.5337C= (p.His1779=)
16g.3729704G>TCA394557099CREBBPc.5343C>A (p.His1781Gln)
c.5229C>A (p.His1743Gln)
c.5298C>A (p.His1766Gln)
c.4926C>A (p.His1642Gln)
c.5082C>A (p.His1694Gln)
c.5289C>A (p.His1763Gln)
c.4590C>A (p.His1530Gln)
c.5337C>A (p.His1779Gln)
16g.3729705T>ACA394557102CREBBPc.5342A>T (p.His1781Leu)
c.5228A>T (p.His1743Leu)
c.5297A>T (p.His1766Leu)
c.4925A>T (p.His1642Leu)
c.5081A>T (p.His1694Leu)
c.5288A>T (p.His1763Leu)
c.4589A>T (p.His1530Leu)
c.5336A>T (p.His1779Leu)
dbSNP
16g.3729705T>CCA394557103CREBBPc.5342A>G (p.His1781Arg)
c.5228A>G (p.His1743Arg)
c.5297A>G (p.His1766Arg)
c.4925A>G (p.His1642Arg)
c.5081A>G (p.His1694Arg)
c.5288A>G (p.His1763Arg)
c.4589A>G (p.His1530Arg)
c.5336A>G (p.His1779Arg)
dbSNP
16g.3729705T>GCA394557105CREBBPc.5342A>C (p.His1781Pro)
c.5228A>C (p.His1743Pro)
c.5297A>C (p.His1766Pro)
c.4925A>C (p.His1642Pro)
c.5081A>C (p.His1694Pro)
c.5288A>C (p.His1763Pro)
c.4589A>C (p.His1530Pro)
c.5336A>C (p.His1779Pro)
dbSNP
16g.3729706G>ACA394557110CREBBPc.5341C>T (p.His1781Tyr)
c.5227C>T (p.His1743Tyr)
c.5296C>T (p.His1766Tyr)
c.4924C>T (p.His1642Tyr)
c.5080C>T (p.His1694Tyr)
c.5287C>T (p.His1763Tyr)
c.4588C>T (p.His1530Tyr)
c.5335C>T (p.His1779Tyr)
dbSNP gnomAD v4
16g.3729706G>CCA394557111CREBBPc.5341C>G (p.His1781Asp)
c.5227C>G (p.His1743Asp)
c.5296C>G (p.His1766Asp)
c.4924C>G (p.His1642Asp)
c.5080C>G (p.His1694Asp)
c.5287C>G (p.His1763Asp)
c.4588C>G (p.His1530Asp)
c.5335C>G (p.His1779Asp)
dbSNP
16g.3729706G>TCA394557108CREBBPc.5341C>A (p.His1781Asn)
c.5227C>A (p.His1743Asn)
c.5296C>A (p.His1766Asn)
c.4924C>A (p.His1642Asn)
c.5080C>A (p.His1694Asn)
c.5287C>A (p.His1763Asn)
c.4588C>A (p.His1530Asn)
c.5335C>A (p.His1779Asn)
16g.3729707C>ACA493394191CREBBPc.5340G>T (p.Val1780=)
c.5226G>T (p.Val1742=)
c.5295G>T (p.Val1765=)
c.4923G>T (p.Val1641=)
c.5079G>T (p.Val1693=)
c.5286G>T (p.Val1762=)
c.4587G>T (p.Val1529=)
c.5334G>T (p.Val1778=)
16g.3729707C=CA2202916500CREBBPc.5340G= (p.Val1780=)
c.5226G= (p.Val1742=)
c.5295G= (p.Val1765=)
c.4923G= (p.Val1641=)
c.5079G= (p.Val1693=)
c.5286G= (p.Val1762=)
c.4587G= (p.Val1529=)
c.5334G= (p.Val1778=)
16g.3729707C>GCA493394192CREBBPc.5340G>C (p.Val1780=)
c.5226G>C (p.Val1742=)
c.5295G>C (p.Val1765=)
c.4923G>C (p.Val1641=)
c.5079G>C (p.Val1693=)
c.5286G>C (p.Val1762=)
c.4587G>C (p.Val1529=)
c.5334G>C (p.Val1778=)
dbSNP gnomAD v2 gnomAD v4
16g.3729707C>TCA493394193CREBBPc.5340G>A (p.Val1780=)
c.5226G>A (p.Val1742=)
c.5295G>A (p.Val1765=)
c.4923G>A (p.Val1641=)
c.5079G>A (p.Val1693=)
c.5286G>A (p.Val1762=)
c.4587G>A (p.Val1529=)
c.5334G>A (p.Val1778=)
dbSNP gnomAD v2 gnomAD v4
16g.3729708A=CA2202916501CREBBPc.5339T= (p.Val1780=)
c.5225T= (p.Val1742=)
c.5294T= (p.Val1765=)
c.4922T= (p.Val1641=)
c.5078T= (p.Val1693=)
c.5285T= (p.Val1762=)
c.4586T= (p.Val1529=)
c.5333T= (p.Val1778=)
16g.3729708A>CCA394557114CREBBPc.5339T>G (p.Val1780Gly)
c.5225T>G (p.Val1742Gly)
c.5294T>G (p.Val1765Gly)
c.4922T>G (p.Val1641Gly)
c.5078T>G (p.Val1693Gly)
c.5285T>G (p.Val1762Gly)
c.4586T>G (p.Val1529Gly)
c.5333T>G (p.Val1778Gly)
dbSNP
16g.3729708A>GCA394557116CREBBPc.5339T>C (p.Val1780Ala)
c.5225T>C (p.Val1742Ala)
c.5294T>C (p.Val1765Ala)
c.4922T>C (p.Val1641Ala)
c.5078T>C (p.Val1693Ala)
c.5285T>C (p.Val1762Ala)
c.4586T>C (p.Val1529Ala)
c.5333T>C (p.Val1778Ala)
gnomAD v4
16g.3729708A>TCA394557117CREBBPc.5339T>A (p.Val1780Glu)
c.5225T>A (p.Val1742Glu)
c.5294T>A (p.Val1765Glu)
c.4922T>A (p.Val1641Glu)
c.5078T>A (p.Val1693Glu)
c.5285T>A (p.Val1762Glu)
c.4586T>A (p.Val1529Glu)
c.5333T>A (p.Val1778Glu)
16g.3729709C>ACA394557120CREBBPc.5338G>T (p.Val1780Leu)
c.5224G>T (p.Val1742Leu)
c.5293G>T (p.Val1765Leu)
c.4921G>T (p.Val1641Leu)
c.5077G>T (p.Val1693Leu)
c.5284G>T (p.Val1762Leu)
c.4585G>T (p.Val1529Leu)
c.5332G>T (p.Val1778Leu)
16g.3729709C>GCA394557121CREBBPc.5338G>C (p.Val1780Leu)
c.5224G>C (p.Val1742Leu)
c.5293G>C (p.Val1765Leu)
c.4921G>C (p.Val1641Leu)
c.5077G>C (p.Val1693Leu)
c.5284G>C (p.Val1762Leu)
c.4585G>C (p.Val1529Leu)
c.5332G>C (p.Val1778Leu)
16g.3729709C>TCA394557122CREBBPc.5338G>A (p.Val1780Met)
c.5224G>A (p.Val1742Met)
c.5293G>A (p.Val1765Met)
c.4921G>A (p.Val1641Met)
c.5077G>A (p.Val1693Met)
c.5284G>A (p.Val1762Met)
c.4585G>A (p.Val1529Met)
c.5332G>A (p.Val1778Met)
16g.3729710C>ACA493394196CREBBPc.5337G>T (p.Leu1779=)
c.5223G>T (p.Leu1741=)
c.5292G>T (p.Leu1764=)
c.4920G>T (p.Leu1640=)
c.5076G>T (p.Leu1692=)
c.5283G>T (p.Leu1761=)
c.4584G>T (p.Leu1528=)
c.5331G>T (p.Leu1777=)
16g.3729710C=CA2202916502CREBBPc.5337G= (p.Leu1779=)
c.5223G= (p.Leu1741=)
c.5292G= (p.Leu1764=)
c.4920G= (p.Leu1640=)
c.5076G= (p.Leu1692=)
c.5283G= (p.Leu1761=)
c.4584G= (p.Leu1528=)
c.5331G= (p.Leu1777=)
16g.3729710C>GCA493394197CREBBPc.5337G>C (p.Leu1779=)
c.5223G>C (p.Leu1741=)
c.5292G>C (p.Leu1764=)
c.4920G>C (p.Leu1640=)
c.5076G>C (p.Leu1692=)
c.5283G>C (p.Leu1761=)
c.4584G>C (p.Leu1528=)
c.5331G>C (p.Leu1777=)
16g.3729710C>TCA493394198CREBBPc.5337G>A (p.Leu1779=)
c.5223G>A (p.Leu1741=)
c.5292G>A (p.Leu1764=)
c.4920G>A (p.Leu1640=)
c.5076G>A (p.Leu1692=)
c.5283G>A (p.Leu1761=)
c.4584G>A (p.Leu1528=)
c.5331G>A (p.Leu1777=)
dbSNP gnomAD v2
16g.3729711A=CA2202916503CREBBPc.5336T= (p.Leu1779=)
c.5222T= (p.Leu1741=)
c.5291T= (p.Leu1764=)
c.4919T= (p.Leu1640=)
c.5075T= (p.Leu1692=)
c.5282T= (p.Leu1761=)
c.4583T= (p.Leu1528=)
c.5330T= (p.Leu1777=)
16g.3729711A>CCA394557124CREBBPc.5336T>G (p.Leu1779Arg)
c.5222T>G (p.Leu1741Arg)
c.5291T>G (p.Leu1764Arg)
c.4919T>G (p.Leu1640Arg)
c.5075T>G (p.Leu1692Arg)
c.5282T>G (p.Leu1761Arg)
c.4583T>G (p.Leu1528Arg)
c.5330T>G (p.Leu1777Arg)
16g.3729711A>GCA16620201CREBBPc.5336T>C (p.Leu1779Pro)
c.5222T>C (p.Leu1741Pro)
c.5291T>C (p.Leu1764Pro)
c.4919T>C (p.Leu1640Pro)
c.5075T>C (p.Leu1692Pro)
c.5282T>C (p.Leu1761Pro)
c.4583T>C (p.Leu1528Pro)
c.5330T>C (p.Leu1777Pro)
ClinVar dbSNP
16g.3729711A>TCA394557127CREBBPc.5336T>A (p.Leu1779Gln)
c.5222T>A (p.Leu1741Gln)
c.5291T>A (p.Leu1764Gln)
c.4919T>A (p.Leu1640Gln)
c.5075T>A (p.Leu1692Gln)
c.5282T>A (p.Leu1761Gln)
c.4583T>A (p.Leu1528Gln)
c.5330T>A (p.Leu1777Gln)
dbSNP
16g.3729712G>ACA493394199CREBBPc.5335C>T (p.Leu1779=)
c.5221C>T (p.Leu1741=)
c.5290C>T (p.Leu1764=)
c.4918C>T (p.Leu1640=)
c.5074C>T (p.Leu1692=)
c.5281C>T (p.Leu1761=)
c.4582C>T (p.Leu1528=)
c.5329C>T (p.Leu1777=)
dbSNP
16g.3729712G>CCA394557129CREBBPc.5335C>G (p.Leu1779Val)
c.5221C>G (p.Leu1741Val)
c.5290C>G (p.Leu1764Val)
c.4918C>G (p.Leu1640Val)
c.5074C>G (p.Leu1692Val)
c.5281C>G (p.Leu1761Val)
c.4582C>G (p.Leu1528Val)
c.5329C>G (p.Leu1777Val)
dbSNP
16g.3729712G>TCA394557130CREBBPc.5335C>A (p.Leu1779Met)
c.5221C>A (p.Leu1741Met)
c.5290C>A (p.Leu1764Met)
c.4918C>A (p.Leu1640Met)
c.5074C>A (p.Leu1692Met)
c.5281C>A (p.Leu1761Met)
c.4582C>A (p.Leu1528Met)
c.5329C>A (p.Leu1777Met)
16g.3729713C>ACA493394200CREBBPc.5334G>T (p.Ser1778=)
c.5220G>T (p.Ser1740=)
c.5289G>T (p.Ser1763=)
c.4917G>T (p.Ser1639=)
c.5073G>T (p.Ser1691=)
c.5280G>T (p.Ser1760=)
c.4581G>T (p.Ser1527=)
c.5328G>T (p.Ser1776=)
ClinVar dbSNP gnomAD v4
16g.3729713C=CA2202916504CREBBPc.5334G= (p.Ser1778=)
c.5220G= (p.Ser1740=)
c.5289G= (p.Ser1763=)
c.4917G= (p.Ser1639=)
c.5073G= (p.Ser1691=)
c.5280G= (p.Ser1760=)
c.4581G= (p.Ser1527=)
c.5328G= (p.Ser1776=)
16g.3729713C>GCA493394201CREBBPc.5334G>C (p.Ser1778=)
c.5220G>C (p.Ser1740=)
c.5289G>C (p.Ser1763=)
c.4917G>C (p.Ser1639=)
c.5073G>C (p.Ser1691=)
c.5280G>C (p.Ser1760=)
c.4581G>C (p.Ser1527=)
c.5328G>C (p.Ser1776=)
dbSNP
16g.3729713C>TCA7869292CREBBPc.5334G>A (p.Ser1778=)
c.5220G>A (p.Ser1740=)
c.5289G>A (p.Ser1763=)
c.4917G>A (p.Ser1639=)
c.5073G>A (p.Ser1691=)
c.5280G>A (p.Ser1760=)
c.4581G>A (p.Ser1527=)
c.5328G>A (p.Ser1776=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3729714G>ACA394557134CREBBPc.5333C>T (p.Ser1778Leu)
c.5219C>T (p.Ser1740Leu)
c.5288C>T (p.Ser1763Leu)
c.4916C>T (p.Ser1639Leu)
c.5072C>T (p.Ser1691Leu)
c.5279C>T (p.Ser1760Leu)
c.4580C>T (p.Ser1527Leu)
c.5327C>T (p.Ser1776Leu)
ClinVar dbSNP gnomAD v2 COSMIC
16g.3729714G>CCA394557136CREBBPc.5333C>G (p.Ser1778Trp)
c.5219C>G (p.Ser1740Trp)
c.5288C>G (p.Ser1763Trp)
c.4916C>G (p.Ser1639Trp)
c.5072C>G (p.Ser1691Trp)
c.5279C>G (p.Ser1760Trp)
c.4580C>G (p.Ser1527Trp)
c.5327C>G (p.Ser1776Trp)
dbSNP
16g.3729714G=CA2202916505CREBBPc.5333C= (p.Ser1778=)
c.5219C= (p.Ser1740=)
c.5288C= (p.Ser1763=)
c.4916C= (p.Ser1639=)
c.5072C= (p.Ser1691=)
c.5279C= (p.Ser1760=)
c.4580C= (p.Ser1527=)
c.5327C= (p.Ser1776=)
16g.3729714G>TCA394557132CREBBPc.5333C>A (p.Ser1778Ter)
c.5219C>A (p.Ser1740Ter)
c.5288C>A (p.Ser1763Ter)
c.4916C>A (p.Ser1639Ter)
c.5072C>A (p.Ser1691Ter)
c.5279C>A (p.Ser1760Ter)
c.4580C>A (p.Ser1527Ter)
c.5327C>A (p.Ser1776Ter)
dbSNP
16g.3729715A>CCA394557137CREBBPc.5332T>G (p.Ser1778Ala)
c.5218T>G (p.Ser1740Ala)
c.5287T>G (p.Ser1763Ala)
c.4915T>G (p.Ser1639Ala)
c.5071T>G (p.Ser1691Ala)
c.5278T>G (p.Ser1760Ala)
c.4579T>G (p.Ser1527Ala)
c.5326T>G (p.Ser1776Ala)
16g.3729715A>GCA394557138CREBBPc.5332T>C (p.Ser1778Pro)
c.5218T>C (p.Ser1740Pro)
c.5287T>C (p.Ser1763Pro)
c.4915T>C (p.Ser1639Pro)
c.5071T>C (p.Ser1691Pro)
c.5278T>C (p.Ser1760Pro)
c.4579T>C (p.Ser1527Pro)
c.5326T>C (p.Ser1776Pro)
16g.3729715A>TCA394557140CREBBPc.5332T>A (p.Ser1778Thr)
c.5218T>A (p.Ser1740Thr)
c.5287T>A (p.Ser1763Thr)
c.4915T>A (p.Ser1639Thr)
c.5071T>A (p.Ser1691Thr)
c.5278T>A (p.Ser1760Thr)
c.4579T>A (p.Ser1527Thr)
c.5326T>A (p.Ser1776Thr)
16g.3729716C>ACA7869293CREBBPc.5331G>T (p.Gln1777His)
c.5217G>T (p.Gln1739His)
c.5286G>T (p.Gln1762His)
c.4914G>T (p.Gln1638His)
c.5070G>T (p.Gln1690His)
c.5277G>T (p.Gln1759His)
c.4578G>T (p.Gln1526His)
c.5325G>T (p.Gln1775His)
dbSNP ExAC gnomAD v2
16g.3729716C=CA2202916506CREBBPc.5331G= (p.Gln1777=)
c.5217G= (p.Gln1739=)
c.5286G= (p.Gln1762=)
c.4914G= (p.Gln1638=)
c.5070G= (p.Gln1690=)
c.5277G= (p.Gln1759=)
c.4578G= (p.Gln1526=)
c.5325G= (p.Gln1775=)
16g.3729716C>GCA394557142CREBBPc.5331G>C (p.Gln1777His)
c.5217G>C (p.Gln1739His)
c.5286G>C (p.Gln1762His)
c.4914G>C (p.Gln1638His)
c.5070G>C (p.Gln1690His)
c.5277G>C (p.Gln1759His)
c.4578G>C (p.Gln1526His)
c.5325G>C (p.Gln1775His)
dbSNP
16g.3729716C>TCA493394202CREBBPc.5331G>A (p.Gln1777=)
c.5217G>A (p.Gln1739=)
c.5286G>A (p.Gln1762=)
c.4914G>A (p.Gln1638=)
c.5070G>A (p.Gln1690=)
c.5277G>A (p.Gln1759=)
c.4578G>A (p.Gln1526=)
c.5325G>A (p.Gln1775=)
dbSNP gnomAD v2 gnomAD v4
16g.3729717T>ACA394557147CREBBPc.5330A>T (p.Gln1777Leu)
c.5216A>T (p.Gln1739Leu)
c.5285A>T (p.Gln1762Leu)
c.4913A>T (p.Gln1638Leu)
c.5069A>T (p.Gln1690Leu)
c.5276A>T (p.Gln1759Leu)
c.4577A>T (p.Gln1526Leu)
c.5324A>T (p.Gln1775Leu)
16g.3729717T>CCA394557146CREBBPc.5330A>G (p.Gln1777Arg)
c.5216A>G (p.Gln1739Arg)
c.5285A>G (p.Gln1762Arg)
c.4913A>G (p.Gln1638Arg)
c.5069A>G (p.Gln1690Arg)
c.5276A>G (p.Gln1759Arg)
c.4577A>G (p.Gln1526Arg)
c.5324A>G (p.Gln1775Arg)
16g.3729717T>GCA394557144CREBBPc.5330A>C (p.Gln1777Pro)
c.5216A>C (p.Gln1739Pro)
c.5285A>C (p.Gln1762Pro)
c.4913A>C (p.Gln1638Pro)
c.5069A>C (p.Gln1690Pro)
c.5276A>C (p.Gln1759Pro)
c.4577A>C (p.Gln1526Pro)
c.5324A>C (p.Gln1775Pro)
16g.3729718G>ACA394557149CREBBPc.5329C>T (p.Gln1777Ter)
c.5215C>T (p.Gln1739Ter)
c.5284C>T (p.Gln1762Ter)
c.4912C>T (p.Gln1638Ter)
c.5068C>T (p.Gln1690Ter)
c.5275C>T (p.Gln1759Ter)
c.4576C>T (p.Gln1526Ter)
c.5323C>T (p.Gln1775Ter)
dbSNP
16g.3729718G>CCA394557151CREBBPc.5329C>G (p.Gln1777Glu)
c.5215C>G (p.Gln1739Glu)
c.5284C>G (p.Gln1762Glu)
c.4912C>G (p.Gln1638Glu)
c.5068C>G (p.Gln1690Glu)
c.5275C>G (p.Gln1759Glu)
c.4576C>G (p.Gln1526Glu)
c.5323C>G (p.Gln1775Glu)
dbSNP
16g.3729718G>TCA394557153CREBBPc.5329C>A (p.Gln1777Lys)
c.5215C>A (p.Gln1739Lys)
c.5284C>A (p.Gln1762Lys)
c.4912C>A (p.Gln1638Lys)
c.5068C>A (p.Gln1690Lys)
c.5275C>A (p.Gln1759Lys)
c.4576C>A (p.Gln1526Lys)
c.5323C>A (p.Gln1775Lys)
16g.3729719G>ACA493394203CREBBPc.5328C>T (p.Ile1776=)
c.5214C>T (p.Ile1738=)
c.5283C>T (p.Ile1761=)
c.4911C>T (p.Ile1637=)
c.5067C>T (p.Ile1689=)
c.5274C>T (p.Ile1758=)
c.4575C>T (p.Ile1525=)
c.5322C>T (p.Ile1774=)
dbSNP
16g.3729719G>CCA394557155CREBBPc.5328C>G (p.Ile1776Met)
c.5214C>G (p.Ile1738Met)
c.5283C>G (p.Ile1761Met)
c.4911C>G (p.Ile1637Met)
c.5067C>G (p.Ile1689Met)
c.5274C>G (p.Ile1758Met)
c.4575C>G (p.Ile1525Met)
c.5322C>G (p.Ile1774Met)
dbSNP
16g.3729719G=CA2202916507CREBBPc.5328C= (p.Ile1776=)
c.5214C= (p.Ile1738=)
c.5283C= (p.Ile1761=)
c.4911C= (p.Ile1637=)
c.5067C= (p.Ile1689=)
c.5274C= (p.Ile1758=)
c.4575C= (p.Ile1525=)
c.5322C= (p.Ile1774=)
16g.3729719G>TCA493394206CREBBPc.5328C>A (p.Ile1776=)
c.5214C>A (p.Ile1738=)
c.5283C>A (p.Ile1761=)
c.4911C>A (p.Ile1637=)
c.5067C>A (p.Ile1689=)
c.5274C>A (p.Ile1758=)
c.4575C>A (p.Ile1525=)
c.5322C>A (p.Ile1774=)
16g.3729720A>CCA394557157CREBBPc.5327T>G (p.Ile1776Ser)
c.5213T>G (p.Ile1738Ser)
c.5282T>G (p.Ile1761Ser)
c.4910T>G (p.Ile1637Ser)
c.5066T>G (p.Ile1689Ser)
c.5273T>G (p.Ile1758Ser)
c.4574T>G (p.Ile1525Ser)
c.5321T>G (p.Ile1774Ser)
16g.3729720A>GCA394557159CREBBPc.5327T>C (p.Ile1776Thr)
c.5213T>C (p.Ile1738Thr)
c.5282T>C (p.Ile1761Thr)
c.4910T>C (p.Ile1637Thr)
c.5066T>C (p.Ile1689Thr)
c.5273T>C (p.Ile1758Thr)
c.4574T>C (p.Ile1525Thr)
c.5321T>C (p.Ile1774Thr)
dbSNP
16g.3729720A>TCA394557160CREBBPc.5327T>A (p.Ile1776Asn)
c.5213T>A (p.Ile1738Asn)
c.5282T>A (p.Ile1761Asn)
c.4910T>A (p.Ile1637Asn)
c.5066T>A (p.Ile1689Asn)
c.5273T>A (p.Ile1758Asn)
c.4574T>A (p.Ile1525Asn)
c.5321T>A (p.Ile1774Asn)
dbSNP
16g.3729721T>ACA394557164CREBBPc.5326A>T (p.Ile1776Phe)
c.5212A>T (p.Ile1738Phe)
c.5281A>T (p.Ile1761Phe)
c.4909A>T (p.Ile1637Phe)
c.5065A>T (p.Ile1689Phe)
c.5272A>T (p.Ile1758Phe)
c.4573A>T (p.Ile1525Phe)
c.5320A>T (p.Ile1774Phe)
dbSNP
16g.3729721T>CCA394557162CREBBPc.5326A>G (p.Ile1776Val)
c.5212A>G (p.Ile1738Val)
c.5281A>G (p.Ile1761Val)
c.4909A>G (p.Ile1637Val)
c.5065A>G (p.Ile1689Val)
c.5272A>G (p.Ile1758Val)
c.4573A>G (p.Ile1525Val)
c.5320A>G (p.Ile1774Val)
16g.3729721T>GCA394557161CREBBPc.5326A>C (p.Ile1776Leu)
c.5212A>C (p.Ile1738Leu)
c.5281A>C (p.Ile1761Leu)
c.4909A>C (p.Ile1637Leu)
c.5065A>C (p.Ile1689Leu)
c.5272A>C (p.Ile1758Leu)
c.4573A>C (p.Ile1525Leu)
c.5320A>C (p.Ile1774Leu)
dbSNP
16g.3729722G>ACA7869294CREBBPc.5325C>T (p.Cys1775=)
c.5211C>T (p.Cys1737=)
c.5280C>T (p.Cys1760=)
c.4908C>T (p.Cys1636=)
c.5064C>T (p.Cys1688=)
c.5271C>T (p.Cys1757=)
c.4572C>T (p.Cys1524=)
c.5319C>T (p.Cys1773=)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.3729722G>CCA394557169CREBBPc.5325C>G (p.Cys1775Trp)
c.5211C>G (p.Cys1737Trp)
c.5280C>G (p.Cys1760Trp)
c.4908C>G (p.Cys1636Trp)
c.5064C>G (p.Cys1688Trp)
c.5271C>G (p.Cys1757Trp)
c.4572C>G (p.Cys1524Trp)
c.5319C>G (p.Cys1773Trp)
dbSNP
16g.3729722G=CA2202916508CREBBPc.5325C= (p.Cys1775=)
c.5211C= (p.Cys1737=)
c.5280C= (p.Cys1760=)
c.4908C= (p.Cys1636=)
c.5064C= (p.Cys1688=)
c.5271C= (p.Cys1757=)
c.4572C= (p.Cys1524=)
c.5319C= (p.Cys1773=)
16g.3729722G>TCA394557167CREBBPc.5325C>A (p.Cys1775Ter)
c.5211C>A (p.Cys1737Ter)
c.5280C>A (p.Cys1760Ter)
c.4908C>A (p.Cys1636Ter)
c.5064C>A (p.Cys1688Ter)
c.5271C>A (p.Cys1757Ter)
c.4572C>A (p.Cys1524Ter)
c.5319C>A (p.Cys1773Ter)
16g.3729723C>ACA394557171CREBBPc.5324G>T (p.Cys1775Phe)
c.5210G>T (p.Cys1737Phe)
c.5279G>T (p.Cys1760Phe)
c.4907G>T (p.Cys1636Phe)
c.5063G>T (p.Cys1688Phe)
c.5270G>T (p.Cys1757Phe)
c.4571G>T (p.Cys1524Phe)
c.5318G>T (p.Cys1773Phe)
16g.3729723C>GCA394557172CREBBPc.5324G>C (p.Cys1775Ser)
c.5210G>C (p.Cys1737Ser)
c.5279G>C (p.Cys1760Ser)
c.4907G>C (p.Cys1636Ser)
c.5063G>C (p.Cys1688Ser)
c.5270G>C (p.Cys1757Ser)
c.4571G>C (p.Cys1524Ser)
c.5318G>C (p.Cys1773Ser)
dbSNP
16g.3729723C>TCA394557174CREBBPc.5324G>A (p.Cys1775Tyr)
c.5210G>A (p.Cys1737Tyr)
c.5279G>A (p.Cys1760Tyr)
c.4907G>A (p.Cys1636Tyr)
c.5063G>A (p.Cys1688Tyr)
c.5270G>A (p.Cys1757Tyr)
c.4571G>A (p.Cys1524Tyr)
c.5318G>A (p.Cys1773Tyr)
dbSNP gnomAD v4
16g.3729724A=CA2202916509CREBBPc.5323T= (p.Cys1775=)
c.5209T= (p.Cys1737=)
c.5278T= (p.Cys1760=)
c.4906T= (p.Cys1636=)
c.5062T= (p.Cys1688=)
c.5269T= (p.Cys1757=)
c.4570T= (p.Cys1524=)
c.5317T= (p.Cys1773=)
16g.3729724A>CCA394557176CREBBPc.5323T>G (p.Cys1775Gly)
c.5209T>G (p.Cys1737Gly)
c.5278T>G (p.Cys1760Gly)
c.4906T>G (p.Cys1636Gly)
c.5062T>G (p.Cys1688Gly)
c.5269T>G (p.Cys1757Gly)
c.4570T>G (p.Cys1524Gly)
c.5317T>G (p.Cys1773Gly)
16g.3729724A>GCA16607414CREBBPc.5323T>C (p.Cys1775Arg)
c.5209T>C (p.Cys1737Arg)
c.5278T>C (p.Cys1760Arg)
c.4906T>C (p.Cys1636Arg)
c.5062T>C (p.Cys1688Arg)
c.5269T>C (p.Cys1757Arg)
c.4570T>C (p.Cys1524Arg)
c.5317T>C (p.Cys1773Arg)
ClinVar dbSNP
16g.3729724A>TCA394557177CREBBPc.5323T>A (p.Cys1775Ser)
c.5209T>A (p.Cys1737Ser)
c.5278T>A (p.Cys1760Ser)
c.4906T>A (p.Cys1636Ser)
c.5062T>A (p.Cys1688Ser)
c.5269T>A (p.Cys1757Ser)
c.4570T>A (p.Cys1524Ser)
c.5317T>A (p.Cys1773Ser)
dbSNP
16g.3729725G>ACA493394210CREBBPc.5322C>T (p.Arg1774=)
c.5208C>T (p.Arg1736=)
c.5277C>T (p.Arg1759=)
c.4905C>T (p.Arg1635=)
c.5061C>T (p.Arg1687=)
c.5268C>T (p.Arg1756=)
c.4569C>T (p.Arg1523=)
c.5316C>T (p.Arg1772=)
dbSNP
16g.3729725G>CCA493394212CREBBPc.5322C>G (p.Arg1774=)
c.5208C>G (p.Arg1736=)
c.5277C>G (p.Arg1759=)
c.4905C>G (p.Arg1635=)
c.5061C>G (p.Arg1687=)
c.5268C>G (p.Arg1756=)
c.4569C>G (p.Arg1523=)
c.5316C>G (p.Arg1772=)
dbSNP
16g.3729725G>TCA493394211CREBBPc.5322C>A (p.Arg1774=)
c.5208C>A (p.Arg1736=)
c.5277C>A (p.Arg1759=)
c.4905C>A (p.Arg1635=)
c.5061C>A (p.Arg1687=)
c.5268C>A (p.Arg1756=)
c.4569C>A (p.Arg1523=)
c.5316C>A (p.Arg1772=)
16g.3729726C>ACA394557179CREBBPc.5321G>T (p.Arg1774Leu)
c.5207G>T (p.Arg1736Leu)
c.5276G>T (p.Arg1759Leu)
c.4904G>T (p.Arg1635Leu)
c.5060G>T (p.Arg1687Leu)
c.5267G>T (p.Arg1756Leu)
c.4568G>T (p.Arg1523Leu)
c.5315G>T (p.Arg1772Leu)
gnomAD v4
16g.3729726C>GCA394557181CREBBPc.5321G>C (p.Arg1774Pro)
c.5207G>C (p.Arg1736Pro)
c.5276G>C (p.Arg1759Pro)
c.4904G>C (p.Arg1635Pro)
c.5060G>C (p.Arg1687Pro)
c.5267G>C (p.Arg1756Pro)
c.4568G>C (p.Arg1523Pro)
c.5315G>C (p.Arg1772Pro)
dbSNP
16g.3729726C>TCA394557183CREBBPc.5321G>A (p.Arg1774His)
c.5207G>A (p.Arg1736His)
c.5276G>A (p.Arg1759His)
c.4904G>A (p.Arg1635His)
c.5060G>A (p.Arg1687His)
c.5267G>A (p.Arg1756His)
c.4568G>A (p.Arg1523His)
c.5315G>A (p.Arg1772His)
gnomAD v4
16g.3729727G>ACA394557185CREBBPc.5320C>T (p.Arg1774Cys)
c.5206C>T (p.Arg1736Cys)
c.5275C>T (p.Arg1759Cys)
c.4903C>T (p.Arg1635Cys)
c.5059C>T (p.Arg1687Cys)
c.5266C>T (p.Arg1756Cys)
c.4567C>T (p.Arg1523Cys)
c.5314C>T (p.Arg1772Cys)
dbSNP gnomAD v4
16g.3729727G>CCA394557187CREBBPc.5320C>G (p.Arg1774Gly)
c.5206C>G (p.Arg1736Gly)
c.5275C>G (p.Arg1759Gly)
c.4903C>G (p.Arg1635Gly)
c.5059C>G (p.Arg1687Gly)
c.5266C>G (p.Arg1756Gly)
c.4567C>G (p.Arg1523Gly)
c.5314C>G (p.Arg1772Gly)
dbSNP
16g.3729727G>TCA394557189CREBBPc.5320C>A (p.Arg1774Ser)
c.5206C>A (p.Arg1736Ser)
c.5275C>A (p.Arg1759Ser)
c.4903C>A (p.Arg1635Ser)
c.5059C>A (p.Arg1687Ser)
c.5266C>A (p.Arg1756Ser)
c.4567C>A (p.Arg1523Ser)
c.5314C>A (p.Arg1772Ser)
dbSNP gnomAD v4
16g.3729728C>ACA394557193CREBBPc.5319G>T (p.Gln1773His)
c.5205G>T (p.Gln1735His)
c.5274G>T (p.Gln1758His)
c.4902G>T (p.Gln1634His)
c.5058G>T (p.Gln1686His)
c.5265G>T (p.Gln1755His)
c.4566G>T (p.Gln1522His)
c.5313G>T (p.Gln1771His)
16g.3729728C=CA2202916510CREBBPc.5319G= (p.Gln1773=)
c.5205G= (p.Gln1735=)
c.5274G= (p.Gln1758=)
c.4902G= (p.Gln1634=)
c.5058G= (p.Gln1686=)
c.5265G= (p.Gln1755=)
c.4566G= (p.Gln1522=)
c.5313G= (p.Gln1771=)
16g.3729728C>GCA394557192CREBBPc.5319G>C (p.Gln1773His)
c.5205G>C (p.Gln1735His)
c.5274G>C (p.Gln1758His)
c.4902G>C (p.Gln1634His)
c.5058G>C (p.Gln1686His)
c.5265G>C (p.Gln1755His)
c.4566G>C (p.Gln1522His)
c.5313G>C (p.Gln1771His)
dbSNP
16g.3729728C>TCA493394213CREBBPc.5319G>A (p.Gln1773=)
c.5205G>A (p.Gln1735=)
c.5274G>A (p.Gln1758=)
c.4902G>A (p.Gln1634=)
c.5058G>A (p.Gln1686=)
c.5265G>A (p.Gln1755=)
c.4566G>A (p.Gln1522=)
c.5313G>A (p.Gln1771=)
dbSNP gnomAD v4
16g.3729729T>ACA394557195CREBBPc.5318A>T (p.Gln1773Leu)
c.5204A>T (p.Gln1735Leu)
c.5273A>T (p.Gln1758Leu)
c.4901A>T (p.Gln1634Leu)
c.5057A>T (p.Gln1686Leu)
c.5264A>T (p.Gln1755Leu)
c.4565A>T (p.Gln1522Leu)
c.5312A>T (p.Gln1771Leu)
16g.3729729T>CCA394557197CREBBPc.5318A>G (p.Gln1773Arg)
c.5204A>G (p.Gln1735Arg)
c.5273A>G (p.Gln1758Arg)
c.4901A>G (p.Gln1634Arg)
c.5057A>G (p.Gln1686Arg)
c.5264A>G (p.Gln1755Arg)
c.4565A>G (p.Gln1522Arg)
c.5312A>G (p.Gln1771Arg)
16g.3729729T>GCA394557199CREBBPc.5318A>C (p.Gln1773Pro)
c.5204A>C (p.Gln1735Pro)
c.5273A>C (p.Gln1758Pro)
c.4901A>C (p.Gln1634Pro)
c.5057A>C (p.Gln1686Pro)
c.5264A>C (p.Gln1755Pro)
c.4565A>C (p.Gln1522Pro)
c.5312A>C (p.Gln1771Pro)
16g.3729730G>ACA394557201CREBBPc.5317C>T (p.Gln1773Ter)
c.5203C>T (p.Gln1735Ter)
c.5272C>T (p.Gln1758Ter)
c.4900C>T (p.Gln1634Ter)
c.5056C>T (p.Gln1686Ter)
c.5263C>T (p.Gln1755Ter)
c.4564C>T (p.Gln1522Ter)
c.5311C>T (p.Gln1771Ter)
16g.3729730G>CCA394557203CREBBPc.5317C>G (p.Gln1773Glu)
c.5203C>G (p.Gln1735Glu)
c.5272C>G (p.Gln1758Glu)
c.4900C>G (p.Gln1634Glu)
c.5056C>G (p.Gln1686Glu)
c.5263C>G (p.Gln1755Glu)
c.4564C>G (p.Gln1522Glu)
c.5311C>G (p.Gln1771Glu)
16g.3729730G>TCA394557205CREBBPc.5317C>A (p.Gln1773Lys)
c.5203C>A (p.Gln1735Lys)
c.5272C>A (p.Gln1758Lys)
c.4900C>A (p.Gln1634Lys)
c.5056C>A (p.Gln1686Lys)
c.5263C>A (p.Gln1755Lys)
c.4564C>A (p.Gln1522Lys)
c.5311C>A (p.Gln1771Lys)
16g.3729731G>ACA493394217CREBBPc.5316C>T (p.Ile1772=)
c.5202C>T (p.Ile1734=)
c.5271C>T (p.Ile1757=)
c.4899C>T (p.Ile1633=)
c.5055C>T (p.Ile1685=)
c.5262C>T (p.Ile1754=)
c.4563C>T (p.Ile1521=)
c.5310C>T (p.Ile1770=)
16g.3729731G>CCA394557207CREBBPc.5316C>G (p.Ile1772Met)
c.5202C>G (p.Ile1734Met)
c.5271C>G (p.Ile1757Met)
c.4899C>G (p.Ile1633Met)
c.5055C>G (p.Ile1685Met)
c.5262C>G (p.Ile1754Met)
c.4563C>G (p.Ile1521Met)
c.5310C>G (p.Ile1770Met)
16g.3729731G>TCA493394218CREBBPc.5316C>A (p.Ile1772=)
c.5202C>A (p.Ile1734=)
c.5271C>A (p.Ile1757=)
c.4899C>A (p.Ile1633=)
c.5055C>A (p.Ile1685=)
c.5262C>A (p.Ile1754=)
c.4563C>A (p.Ile1521=)
c.5310C>A (p.Ile1770=)
gnomAD v4
16g.3729732A>CCA394557213CREBBPc.5315T>G (p.Ile1772Ser)
c.5201T>G (p.Ile1734Ser)
c.5270T>G (p.Ile1757Ser)
c.4898T>G (p.Ile1633Ser)
c.5054T>G (p.Ile1685Ser)
c.5261T>G (p.Ile1754Ser)
c.4562T>G (p.Ile1521Ser)
c.5309T>G (p.Ile1770Ser)
dbSNP
16g.3729732A>GCA394557209CREBBPc.5315T>C (p.Ile1772Thr)
c.5201T>C (p.Ile1734Thr)
c.5270T>C (p.Ile1757Thr)
c.4898T>C (p.Ile1633Thr)
c.5054T>C (p.Ile1685Thr)
c.5261T>C (p.Ile1754Thr)
c.4562T>C (p.Ile1521Thr)
c.5309T>C (p.Ile1770Thr)
dbSNP
16g.3729732A>TCA394557211CREBBPc.5315T>A (p.Ile1772Asn)
c.5201T>A (p.Ile1734Asn)
c.5270T>A (p.Ile1757Asn)
c.4898T>A (p.Ile1633Asn)
c.5054T>A (p.Ile1685Asn)
c.5261T>A (p.Ile1754Asn)
c.4562T>A (p.Ile1521Asn)
c.5309T>A (p.Ile1770Asn)
ClinVar dbSNP
16g.3729733T>ACA394557215CREBBPc.5314A>T (p.Ile1772Phe)
c.5200A>T (p.Ile1734Phe)
c.5269A>T (p.Ile1757Phe)
c.4897A>T (p.Ile1633Phe)
c.5053A>T (p.Ile1685Phe)
c.5260A>T (p.Ile1754Phe)
c.4561A>T (p.Ile1521Phe)
c.5308A>T (p.Ile1770Phe)
dbSNP
16g.3729733T>CCA394557217CREBBPc.5314A>G (p.Ile1772Val)
c.5200A>G (p.Ile1734Val)
c.5269A>G (p.Ile1757Val)
c.4897A>G (p.Ile1633Val)
c.5053A>G (p.Ile1685Val)
c.5260A>G (p.Ile1754Val)
c.4561A>G (p.Ile1521Val)
c.5308A>G (p.Ile1770Val)
16g.3729733T>GCA394557219CREBBPc.5314A>C (p.Ile1772Leu)
c.5200A>C (p.Ile1734Leu)
c.5269A>C (p.Ile1757Leu)
c.4897A>C (p.Ile1633Leu)
c.5053A>C (p.Ile1685Leu)
c.5260A>C (p.Ile1754Leu)
c.4561A>C (p.Ile1521Leu)
c.5308A>C (p.Ile1770Leu)
dbSNP
16g.3729734G>ACA493394219CREBBPc.5313C>T (p.Ser1771=)
c.5199C>T (p.Ser1733=)
c.5268C>T (p.Ser1756=)
c.4896C>T (p.Ser1632=)
c.5052C>T (p.Ser1684=)
c.5259C>T (p.Ser1753=)
c.4560C>T (p.Ser1520=)
c.5307C>T (p.Ser1769=)
dbSNP gnomAD v4
16g.3729734G>CCA394557221CREBBPc.5313C>G (p.Ser1771Arg)
c.5199C>G (p.Ser1733Arg)
c.5268C>G (p.Ser1756Arg)
c.4896C>G (p.Ser1632Arg)
c.5052C>G (p.Ser1684Arg)
c.5259C>G (p.Ser1753Arg)
c.4560C>G (p.Ser1520Arg)
c.5307C>G (p.Ser1769Arg)
dbSNP
16g.3729734G>TCA394557223CREBBPc.5313C>A (p.Ser1771Arg)
c.5199C>A (p.Ser1733Arg)
c.5268C>A (p.Ser1756Arg)
c.4896C>A (p.Ser1632Arg)
c.5052C>A (p.Ser1684Arg)
c.5259C>A (p.Ser1753Arg)
c.4560C>A (p.Ser1520Arg)
c.5307C>A (p.Ser1769Arg)
16g.3729735C>ACA394557225CREBBPc.5312G>T (p.Ser1771Ile)
c.5198G>T (p.Ser1733Ile)
c.5267G>T (p.Ser1756Ile)
c.4895G>T (p.Ser1632Ile)
c.5051G>T (p.Ser1684Ile)
c.5258G>T (p.Ser1753Ile)
c.4559G>T (p.Ser1520Ile)
c.5306G>T (p.Ser1769Ile)
16g.3729735C>GCA394557228CREBBPc.5312G>C (p.Ser1771Thr)
c.5198G>C (p.Ser1733Thr)
c.5267G>C (p.Ser1756Thr)
c.4895G>C (p.Ser1632Thr)
c.5051G>C (p.Ser1684Thr)
c.5258G>C (p.Ser1753Thr)
c.4559G>C (p.Ser1520Thr)
c.5306G>C (p.Ser1769Thr)
dbSNP
16g.3729735C>TCA394557226CREBBPc.5312G>A (p.Ser1771Asn)
c.5198G>A (p.Ser1733Asn)
c.5267G>A (p.Ser1756Asn)
c.4895G>A (p.Ser1632Asn)
c.5051G>A (p.Ser1684Asn)
c.5258G>A (p.Ser1753Asn)
c.4559G>A (p.Ser1520Asn)
c.5306G>A (p.Ser1769Asn)
dbSNP gnomAD v4
16g.3729736T>ACA394557229CREBBPc.5311A>T (p.Ser1771Cys)
c.5197A>T (p.Ser1733Cys)
c.5266A>T (p.Ser1756Cys)
c.4894A>T (p.Ser1632Cys)
c.5050A>T (p.Ser1684Cys)
c.5257A>T (p.Ser1753Cys)
c.4558A>T (p.Ser1520Cys)
c.5305A>T (p.Ser1769Cys)
dbSNP
16g.3729736T>CCA394557231CREBBPc.5311A>G (p.Ser1771Gly)
c.5197A>G (p.Ser1733Gly)
c.5266A>G (p.Ser1756Gly)
c.4894A>G (p.Ser1632Gly)
c.5050A>G (p.Ser1684Gly)
c.5257A>G (p.Ser1753Gly)
c.4558A>G (p.Ser1520Gly)
c.5305A>G (p.Ser1769Gly)
dbSNP
16g.3729736T>GCA394557233CREBBPc.5311A>C (p.Ser1771Arg)
c.5197A>C (p.Ser1733Arg)
c.5266A>C (p.Ser1756Arg)
c.4894A>C (p.Ser1632Arg)
c.5050A>C (p.Ser1684Arg)
c.5257A>C (p.Ser1753Arg)
c.4558A>C (p.Ser1520Arg)
c.5305A>C (p.Ser1769Arg)
dbSNP
16g.3729737C>ACA493394223CREBBPc.5310G>T (p.Leu1770=)
c.5196G>T (p.Leu1732=)
c.5265G>T (p.Leu1755=)
c.4893G>T (p.Leu1631=)
c.5049G>T (p.Leu1683=)
c.5256G>T (p.Leu1752=)
c.4557G>T (p.Leu1519=)
c.5304G>T (p.Leu1768=)
dbSNP gnomAD v4
16g.3729737C=CA2202916511CREBBPc.5310G= (p.Leu1770=)
c.5196G= (p.Leu1732=)
c.5265G= (p.Leu1755=)
c.4893G= (p.Leu1631=)
c.5049G= (p.Leu1683=)
c.5256G= (p.Leu1752=)
c.4557G= (p.Leu1519=)
c.5304G= (p.Leu1768=)
16g.3729737C>GCA493394225CREBBPc.5310G>C (p.Leu1770=)
c.5196G>C (p.Leu1732=)
c.5265G>C (p.Leu1755=)
c.4893G>C (p.Leu1631=)
c.5049G>C (p.Leu1683=)
c.5256G>C (p.Leu1752=)
c.4557G>C (p.Leu1519=)
c.5304G>C (p.Leu1768=)
dbSNP
16g.3729737C>TCA493394224CREBBPc.5310G>A (p.Leu1770=)
c.5196G>A (p.Leu1732=)
c.5265G>A (p.Leu1755=)
c.4893G>A (p.Leu1631=)
c.5049G>A (p.Leu1683=)
c.5256G>A (p.Leu1752=)
c.4557G>A (p.Leu1519=)
c.5304G>A (p.Leu1768=)
dbSNP
16g.3729738A>CCA394557235CREBBPc.5309T>G (p.Leu1770Arg)
c.5195T>G (p.Leu1732Arg)
c.5264T>G (p.Leu1755Arg)
c.4892T>G (p.Leu1631Arg)
c.5048T>G (p.Leu1683Arg)
c.5255T>G (p.Leu1752Arg)
c.4556T>G (p.Leu1519Arg)
c.5303T>G (p.Leu1768Arg)
dbSNP
16g.3729738A>GCA394557237CREBBPc.5309T>C (p.Leu1770Pro)
c.5195T>C (p.Leu1732Pro)
c.5264T>C (p.Leu1755Pro)
c.4892T>C (p.Leu1631Pro)
c.5048T>C (p.Leu1683Pro)
c.5255T>C (p.Leu1752Pro)
c.4556T>C (p.Leu1519Pro)
c.5303T>C (p.Leu1768Pro)
dbSNP
16g.3729738A>TCA394557238CREBBPc.5309T>A (p.Leu1770Gln)
c.5195T>A (p.Leu1732Gln)
c.5264T>A (p.Leu1755Gln)
c.4892T>A (p.Leu1631Gln)
c.5048T>A (p.Leu1683Gln)
c.5255T>A (p.Leu1752Gln)
c.4556T>A (p.Leu1519Gln)
c.5303T>A (p.Leu1768Gln)
dbSNP
16g.3729739G>ACA493394226CREBBPc.5308C>T (p.Leu1770=)
c.5194C>T (p.Leu1732=)
c.5263C>T (p.Leu1755=)
c.4891C>T (p.Leu1631=)
c.5047C>T (p.Leu1683=)
c.5254C>T (p.Leu1752=)
c.4555C>T (p.Leu1519=)
c.5302C>T (p.Leu1768=)
dbSNP
16g.3729739G>CCA394557242CREBBPc.5308C>G (p.Leu1770Val)
c.5194C>G (p.Leu1732Val)
c.5263C>G (p.Leu1755Val)
c.4891C>G (p.Leu1631Val)
c.5047C>G (p.Leu1683Val)
c.5254C>G (p.Leu1752Val)
c.4555C>G (p.Leu1519Val)
c.5302C>G (p.Leu1768Val)
dbSNP
16g.3729739G>TCA394557241CREBBPc.5308C>A (p.Leu1770Met)
c.5194C>A (p.Leu1732Met)
c.5263C>A (p.Leu1755Met)
c.4891C>A (p.Leu1631Met)
c.5047C>A (p.Leu1683Met)
c.5254C>A (p.Leu1752Met)
c.4555C>A (p.Leu1519Met)
c.5302C>A (p.Leu1768Met)
16g.3729740C>ACA493394227CREBBPc.5307G>T (p.Arg1769=)
c.5193G>T (p.Arg1731=)
c.5262G>T (p.Arg1754=)
c.4890G>T (p.Arg1630=)
c.5046G>T (p.Arg1682=)
c.5253G>T (p.Arg1751=)
c.4554G>T (p.Arg1518=)
c.5301G>T (p.Arg1767=)
dbSNP gnomAD v4
16g.3729740C>GCA493394229CREBBPc.5307G>C (p.Arg1769=)
c.5193G>C (p.Arg1731=)
c.5262G>C (p.Arg1754=)
c.4890G>C (p.Arg1630=)
c.5046G>C (p.Arg1682=)
c.5253G>C (p.Arg1751=)
c.4554G>C (p.Arg1518=)
c.5301G>C (p.Arg1767=)
dbSNP
16g.3729740C>TCA493394228CREBBPc.5307G>A (p.Arg1769=)
c.5193G>A (p.Arg1731=)
c.5262G>A (p.Arg1754=)
c.4890G>A (p.Arg1630=)
c.5046G>A (p.Arg1682=)
c.5253G>A (p.Arg1751=)
c.4554G>A (p.Arg1518=)
c.5301G>A (p.Arg1767=)
dbSNP gnomAD v4
16g.3729741C>ACA394557244CREBBPc.5306G>T (p.Arg1769Leu)
c.5192G>T (p.Arg1731Leu)
c.5261G>T (p.Arg1754Leu)
c.4889G>T (p.Arg1630Leu)
c.5045G>T (p.Arg1682Leu)
c.5252G>T (p.Arg1751Leu)
c.4553G>T (p.Arg1518Leu)
c.5300G>T (p.Arg1767Leu)
dbSNP
16g.3729741C>GCA394557246CREBBPc.5306G>C (p.Arg1769Pro)
c.5192G>C (p.Arg1731Pro)
c.5261G>C (p.Arg1754Pro)
c.4889G>C (p.Arg1630Pro)
c.5045G>C (p.Arg1682Pro)
c.5252G>C (p.Arg1751Pro)
c.4553G>C (p.Arg1518Pro)
c.5300G>C (p.Arg1767Pro)
dbSNP
16g.3729741C>TCA394557248CREBBPc.5306G>A (p.Arg1769Gln)
c.5192G>A (p.Arg1731Gln)
c.5261G>A (p.Arg1754Gln)
c.4889G>A (p.Arg1630Gln)
c.5045G>A (p.Arg1682Gln)
c.5252G>A (p.Arg1751Gln)
c.4553G>A (p.Arg1518Gln)
c.5300G>A (p.Arg1767Gln)
dbSNP gnomAD v4
16g.3729742G>ACA394557250CREBBPc.5305C>T (p.Arg1769Trp)
c.5191C>T (p.Arg1731Trp)
c.5260C>T (p.Arg1754Trp)
c.4888C>T (p.Arg1630Trp)
c.5044C>T (p.Arg1682Trp)
c.5251C>T (p.Arg1751Trp)
c.4552C>T (p.Arg1518Trp)
c.5299C>T (p.Arg1767Trp)
dbSNP gnomAD v4
16g.3729742G>CCA394557252CREBBPc.5305C>G (p.Arg1769Gly)
c.5191C>G (p.Arg1731Gly)
c.5260C>G (p.Arg1754Gly)
c.4888C>G (p.Arg1630Gly)
c.5044C>G (p.Arg1682Gly)
c.5251C>G (p.Arg1751Gly)
c.4552C>G (p.Arg1518Gly)
c.5299C>G (p.Arg1767Gly)
dbSNP
16g.3729742G>TCA493394230CREBBPc.5305C>A (p.Arg1769=)
c.5191C>A (p.Arg1731=)
c.5260C>A (p.Arg1754=)
c.4888C>A (p.Arg1630=)
c.5044C>A (p.Arg1682=)
c.5251C>A (p.Arg1751=)
c.4552C>A (p.Arg1518=)
c.5299C>A (p.Arg1767=)
16g.3729743G>ACA493394231CREBBPc.5304C>T (p.Arg1768=)
c.5190C>T (p.Arg1730=)
c.5259C>T (p.Arg1753=)
c.4887C>T (p.Arg1629=)
c.5043C>T (p.Arg1681=)
c.5250C>T (p.Arg1750=)
c.4551C>T (p.Arg1517=)
c.5298C>T (p.Arg1766=)
dbSNP
16g.3729743G>CCA7869295CREBBPc.5304C>G (p.Arg1768=)
c.5190C>G (p.Arg1730=)
c.5259C>G (p.Arg1753=)
c.4887C>G (p.Arg1629=)
c.5043C>G (p.Arg1681=)
c.5250C>G (p.Arg1750=)
c.4551C>G (p.Arg1517=)
c.5298C>G (p.Arg1766=)
dbSNP ExAC gnomAD v2
16g.3729743G=CA2202916512CREBBPc.5304C= (p.Arg1768=)
c.5190C= (p.Arg1730=)
c.5259C= (p.Arg1753=)
c.4887C= (p.Arg1629=)
c.5043C= (p.Arg1681=)
c.5250C= (p.Arg1750=)
c.4551C= (p.Arg1517=)
c.5298C= (p.Arg1766=)
16g.3729743G>TCA493394232CREBBPc.5304C>A (p.Arg1768=)
c.5190C>A (p.Arg1730=)
c.5259C>A (p.Arg1753=)
c.4887C>A (p.Arg1629=)
c.5043C>A (p.Arg1681=)
c.5250C>A (p.Arg1750=)
c.4551C>A (p.Arg1517=)
c.5298C>A (p.Arg1766=)
gnomAD v4
16g.3729744C>ACA394557255CREBBPc.5303G>T (p.Arg1768Leu)
c.5189G>T (p.Arg1730Leu)
c.5258G>T (p.Arg1753Leu)
c.4886G>T (p.Arg1629Leu)
c.5042G>T (p.Arg1681Leu)
c.5249G>T (p.Arg1750Leu)
c.4550G>T (p.Arg1517Leu)
c.5297G>T (p.Arg1766Leu)
dbSNP
16g.3729744C>GCA394557259CREBBPc.5303G>C (p.Arg1768Pro)
c.5189G>C (p.Arg1730Pro)
c.5258G>C (p.Arg1753Pro)
c.4886G>C (p.Arg1629Pro)
c.5042G>C (p.Arg1681Pro)
c.5249G>C (p.Arg1750Pro)
c.4550G>C (p.Arg1517Pro)
c.5297G>C (p.Arg1766Pro)
dbSNP
16g.3729744C>TCA394557257CREBBPc.5303G>A (p.Arg1768His)
c.5189G>A (p.Arg1730His)
c.5258G>A (p.Arg1753His)
c.4886G>A (p.Arg1629His)
c.5042G>A (p.Arg1681His)
c.5249G>A (p.Arg1750His)
c.4550G>A (p.Arg1517His)
c.5297G>A (p.Arg1766His)
ClinVar dbSNP gnomAD v4
16g.3729745G>ACA394557261CREBBPc.5302C>T (p.Arg1768Cys)
c.5188C>T (p.Arg1730Cys)
c.5257C>T (p.Arg1753Cys)
c.4885C>T (p.Arg1629Cys)
c.5041C>T (p.Arg1681Cys)
c.5248C>T (p.Arg1750Cys)
c.4549C>T (p.Arg1517Cys)
c.5296C>T (p.Arg1766Cys)
dbSNP
16g.3729745G>CCA394557263CREBBPc.5302C>G (p.Arg1768Gly)
c.5188C>G (p.Arg1730Gly)
c.5257C>G (p.Arg1753Gly)
c.4885C>G (p.Arg1629Gly)
c.5041C>G (p.Arg1681Gly)
c.5248C>G (p.Arg1750Gly)
c.4549C>G (p.Arg1517Gly)
c.5296C>G (p.Arg1766Gly)
dbSNP
16g.3729745G>TCA394557265CREBBPc.5302C>A (p.Arg1768Ser)
c.5188C>A (p.Arg1730Ser)
c.5257C>A (p.Arg1753Ser)
c.4885C>A (p.Arg1629Ser)
c.5041C>A (p.Arg1681Ser)
c.5248C>A (p.Arg1750Ser)
c.4549C>A (p.Arg1517Ser)
c.5296C>A (p.Arg1766Ser)
gnomAD v4
16g.3729746T>ACA493394233CREBBPc.5301A>T (p.Ser1767=)
c.5187A>T (p.Ser1729=)
c.5256A>T (p.Ser1752=)
c.4884A>T (p.Ser1628=)
c.5040A>T (p.Ser1680=)
c.5247A>T (p.Ser1749=)
c.4548A>T (p.Ser1516=)
c.5295A>T (p.Ser1765=)
dbSNP
16g.3729746T>CCA493394234CREBBPc.5301A>G (p.Ser1767=)
c.5187A>G (p.Ser1729=)
c.5256A>G (p.Ser1752=)
c.4884A>G (p.Ser1628=)
c.5040A>G (p.Ser1680=)
c.5247A>G (p.Ser1749=)
c.4548A>G (p.Ser1516=)
c.5295A>G (p.Ser1765=)
dbSNP gnomAD v3 gnomAD v4
16g.3729746T>GCA493394235CREBBPc.5301A>C (p.Ser1767=)
c.5187A>C (p.Ser1729=)
c.5256A>C (p.Ser1752=)
c.4884A>C (p.Ser1628=)
c.5040A>C (p.Ser1680=)
c.5247A>C (p.Ser1749=)
c.4548A>C (p.Ser1516=)
c.5295A>C (p.Ser1765=)
dbSNP
16g.3729746T=CA2202916513CREBBPc.5301A= (p.Ser1767=)
c.5187A= (p.Ser1729=)
c.5256A= (p.Ser1752=)
c.4884A= (p.Ser1628=)
c.5040A= (p.Ser1680=)
c.5247A= (p.Ser1749=)
c.4548A= (p.Ser1516=)
c.5295A= (p.Ser1765=)
16g.3729746_3729747insTGGGGGTTCTTTCA2573152062CREBBPc.5301_5302insAAGAACCCCCAA (p.Ser1767_Arg1768insLysAsnProGln)
c.5187_5188insAAGAACCCCCAA (p.Ser1729_Arg1730insLysAsnProGln)
c.5256_5257insAAGAACCCCCAA (p.Ser1752_Arg1753insLysAsnProGln)
c.4884_4885insAAGAACCCCCAA (p.Ser1628_Arg1629insLysAsnProGln)
c.5040_5041insAAGAACCCCCAA (p.Ser1680_Arg1681insLysAsnProGln)
c.5247_5248insAAGAACCCCCAA (p.Ser1749_Arg1750insLysAsnProGln)
c.4548_4549insAAGAACCCCCAA (p.Ser1516_Arg1517insLysAsnProGln)
c.5295_5296insAAGAACCCCCAA (p.Ser1765_Arg1766insLysAsnProGln)
ClinVar dbSNP
16g.3729747G>ACA394557267CREBBPc.5300C>T (p.Ser1767Leu)
c.5186C>T (p.Ser1729Leu)
c.5255C>T (p.Ser1752Leu)
c.4883C>T (p.Ser1628Leu)
c.5039C>T (p.Ser1680Leu)
c.5246C>T (p.Ser1749Leu)
c.4547C>T (p.Ser1516Leu)
c.5294C>T (p.Ser1765Leu)
dbSNP gnomAD v3 gnomAD v4 COSMIC
16g.3729747G>CCA394557269CREBBPc.5300C>G (p.Ser1767Ter)
c.5186C>G (p.Ser1729Ter)
c.5255C>G (p.Ser1752Ter)
c.4883C>G (p.Ser1628Ter)
c.5039C>G (p.Ser1680Ter)
c.5246C>G (p.Ser1749Ter)
c.4547C>G (p.Ser1516Ter)
c.5294C>G (p.Ser1765Ter)
dbSNP
16g.3729747G=CA2202916514CREBBPc.5300C= (p.Ser1767=)
c.5186C= (p.Ser1729=)
c.5255C= (p.Ser1752=)
c.4883C= (p.Ser1628=)
c.5039C= (p.Ser1680=)
c.5246C= (p.Ser1749=)
c.4547C= (p.Ser1516=)
c.5294C= (p.Ser1765=)
16g.3729747G>TCA394557270CREBBPc.5300C>A (p.Ser1767Ter)
c.5186C>A (p.Ser1729Ter)
c.5255C>A (p.Ser1752Ter)
c.4883C>A (p.Ser1628Ter)
c.5039C>A (p.Ser1680Ter)
c.5246C>A (p.Ser1749Ter)
c.4547C>A (p.Ser1516Ter)
c.5294C>A (p.Ser1765Ter)
gnomAD v4
16g.3729748A>CCA394557273CREBBPc.5299T>G (p.Ser1767Ala)
c.5185T>G (p.Ser1729Ala)
c.5254T>G (p.Ser1752Ala)
c.4882T>G (p.Ser1628Ala)
c.5038T>G (p.Ser1680Ala)
c.5245T>G (p.Ser1749Ala)
c.4546T>G (p.Ser1516Ala)
c.5293T>G (p.Ser1765Ala)
dbSNP
16g.3729748A>GCA394557275CREBBPc.5299T>C (p.Ser1767Pro)
c.5185T>C (p.Ser1729Pro)
c.5254T>C (p.Ser1752Pro)
c.4882T>C (p.Ser1628Pro)
c.5038T>C (p.Ser1680Pro)
c.5245T>C (p.Ser1749Pro)
c.4546T>C (p.Ser1516Pro)
c.5293T>C (p.Ser1765Pro)
dbSNP
16g.3729748A>TCA394557277CREBBPc.5299T>A (p.Ser1767Thr)
c.5185T>A (p.Ser1729Thr)
c.5254T>A (p.Ser1752Thr)
c.4882T>A (p.Ser1628Thr)
c.5038T>A (p.Ser1680Thr)
c.5245T>A (p.Ser1749Thr)
c.4546T>A (p.Ser1516Thr)
c.5293T>A (p.Ser1765Thr)
dbSNP
16g.3729749C>ACA394557279CREBBPc.5298G>T (p.Glu1766Asp)
c.5184G>T (p.Glu1728Asp)
c.5253G>T (p.Glu1751Asp)
c.4881G>T (p.Glu1627Asp)
c.5037G>T (p.Glu1679Asp)
c.5244G>T (p.Glu1748Asp)
c.4545G>T (p.Glu1515Asp)
c.5292G>T (p.Glu1764Asp)
dbSNP
16g.3729749C>GCA394557281CREBBPc.5298G>C (p.Glu1766Asp)
c.5184G>C (p.Glu1728Asp)
c.5253G>C (p.Glu1751Asp)
c.4881G>C (p.Glu1627Asp)
c.5037G>C (p.Glu1679Asp)
c.5244G>C (p.Glu1748Asp)
c.4545G>C (p.Glu1515Asp)
c.5292G>C (p.Glu1764Asp)
dbSNP
16g.3729749C>TCA493394237CREBBPc.5298G>A (p.Glu1766=)
c.5184G>A (p.Glu1728=)
c.5253G>A (p.Glu1751=)
c.4881G>A (p.Glu1627=)
c.5037G>A (p.Glu1679=)
c.5244G>A (p.Glu1748=)
c.4545G>A (p.Glu1515=)
c.5292G>A (p.Glu1764=)
dbSNP
16g.3729750T>ACA394557283CREBBPc.5297A>T (p.Glu1766Val)
c.5183A>T (p.Glu1728Val)
c.5252A>T (p.Glu1751Val)
c.4880A>T (p.Glu1627Val)
c.5036A>T (p.Glu1679Val)
c.5243A>T (p.Glu1748Val)
c.4544A>T (p.Glu1515Val)
c.5291A>T (p.Glu1764Val)
dbSNP
16g.3729750T>CCA394557287CREBBPc.5297A>G (p.Glu1766Gly)
c.5183A>G (p.Glu1728Gly)
c.5252A>G (p.Glu1751Gly)
c.4880A>G (p.Glu1627Gly)
c.5036A>G (p.Glu1679Gly)
c.5243A>G (p.Glu1748Gly)
c.4544A>G (p.Glu1515Gly)
c.5291A>G (p.Glu1764Gly)
dbSNP
16g.3729750T>GCA394557285CREBBPc.5297A>C (p.Glu1766Ala)
c.5183A>C (p.Glu1728Ala)
c.5252A>C (p.Glu1751Ala)
c.4880A>C (p.Glu1627Ala)
c.5036A>C (p.Glu1679Ala)
c.5243A>C (p.Glu1748Ala)
c.4544A>C (p.Glu1515Ala)
c.5291A>C (p.Glu1764Ala)
16g.3729750_3729751insGTGGGCA2573152063CREBBPc.5296_5297insCCCAC (p.Glu1766AlafsTer7)
c.5182_5183insCCCAC (p.Glu1728AlafsTer7)
c.5251_5252insCCCAC (p.Glu1751AlafsTer7)
c.4879_4880insCCCAC (p.Glu1627AlafsTer7)
c.5035_5036insCCCAC (p.Glu1679AlafsTer7)
c.5242_5243insCCCAC (p.Glu1748AlafsTer7)
c.4543_4544insCCCAC (p.Glu1515AlafsTer7)
c.5290_5291insCCCAC (p.Glu1764AlafsTer7)
ClinVar dbSNP
16g.3729751C>ACA394557289CREBBPc.5296G>T (p.Glu1766Ter)
c.5182G>T (p.Glu1728Ter)
c.5251G>T (p.Glu1751Ter)
c.4879G>T (p.Glu1627Ter)
c.5035G>T (p.Glu1679Ter)
c.5242G>T (p.Glu1748Ter)
c.4543G>T (p.Glu1515Ter)
c.5290G>T (p.Glu1764Ter)
dbSNP
16g.3729751C>GCA394557290CREBBPc.5296G>C (p.Glu1766Gln)
c.5182G>C (p.Glu1728Gln)
c.5251G>C (p.Glu1751Gln)
c.4879G>C (p.Glu1627Gln)
c.5035G>C (p.Glu1679Gln)
c.5242G>C (p.Glu1748Gln)
c.4543G>C (p.Glu1515Gln)
c.5290G>C (p.Glu1764Gln)
dbSNP
16g.3729751C>TCA394557292CREBBPc.5296G>A (p.Glu1766Lys)
c.5182G>A (p.Glu1728Lys)
c.5251G>A (p.Glu1751Lys)
c.4879G>A (p.Glu1627Lys)
c.5035G>A (p.Glu1679Lys)
c.5242G>A (p.Glu1748Lys)
c.4543G>A (p.Glu1515Lys)
c.5290G>A (p.Glu1764Lys)
dbSNP
16g.3729752C>ACA394557294CREBBPc.5295G>T (p.Gln1765His)
c.5181G>T (p.Gln1727His)
c.5250G>T (p.Gln1750His)
c.4878G>T (p.Gln1626His)
c.5034G>T (p.Gln1678His)
c.5241G>T (p.Gln1747His)
c.4542G>T (p.Gln1514His)
c.5289G>T (p.Gln1763His)
dbSNP
16g.3729752C>GCA394557296CREBBPc.5295G>C (p.Gln1765His)
c.5181G>C (p.Gln1727His)
c.5250G>C (p.Gln1750His)
c.4878G>C (p.Gln1626His)
c.5034G>C (p.Gln1678His)
c.5241G>C (p.Gln1747His)
c.4542G>C (p.Gln1514His)
c.5289G>C (p.Gln1763His)
dbSNP
16g.3729752C>TCA493394238CREBBPc.5295G>A (p.Gln1765=)
c.5181G>A (p.Gln1727=)
c.5250G>A (p.Gln1750=)
c.4878G>A (p.Gln1626=)
c.5034G>A (p.Gln1678=)
c.5241G>A (p.Gln1747=)
c.4542G>A (p.Gln1514=)
c.5289G>A (p.Gln1763=)
dbSNP
16g.3729753T>ACA394557302CREBBPc.5294A>T (p.Gln1765Leu)
c.5180A>T (p.Gln1727Leu)
c.5249A>T (p.Gln1750Leu)
c.4877A>T (p.Gln1626Leu)
c.5033A>T (p.Gln1678Leu)
c.5240A>T (p.Gln1747Leu)
c.4541A>T (p.Gln1514Leu)
c.5288A>T (p.Gln1763Leu)
COSMIC
16g.3729753T>CCA394557300CREBBPc.5294A>G (p.Gln1765Arg)
c.5180A>G (p.Gln1727Arg)
c.5249A>G (p.Gln1750Arg)
c.4877A>G (p.Gln1626Arg)
c.5033A>G (p.Gln1678Arg)
c.5240A>G (p.Gln1747Arg)
c.4541A>G (p.Gln1514Arg)
c.5288A>G (p.Gln1763Arg)
16g.3729753T>GCA394557298CREBBPc.5294A>C (p.Gln1765Pro)
c.5180A>C (p.Gln1727Pro)
c.5249A>C (p.Gln1750Pro)
c.4877A>C (p.Gln1626Pro)
c.5033A>C (p.Gln1678Pro)
c.5240A>C (p.Gln1747Pro)
c.4541A>C (p.Gln1514Pro)
c.5288A>C (p.Gln1763Pro)
16g.3729754G>ACA394557304CREBBPc.5293C>T (p.Gln1765Ter)
c.5179C>T (p.Gln1727Ter)
c.5248C>T (p.Gln1750Ter)
c.4876C>T (p.Gln1626Ter)
c.5032C>T (p.Gln1678Ter)
c.5239C>T (p.Gln1747Ter)
c.4540C>T (p.Gln1514Ter)
c.5287C>T (p.Gln1763Ter)
COSMIC
16g.3729754G>CCA394557306CREBBPc.5293C>G (p.Gln1765Glu)
c.5179C>G (p.Gln1727Glu)
c.5248C>G (p.Gln1750Glu)
c.4876C>G (p.Gln1626Glu)
c.5032C>G (p.Gln1678Glu)
c.5239C>G (p.Gln1747Glu)
c.4540C>G (p.Gln1514Glu)
c.5287C>G (p.Gln1763Glu)
16g.3729754G>TCA394557308CREBBPc.5293C>A (p.Gln1765Lys)
c.5179C>A (p.Gln1727Lys)
c.5248C>A (p.Gln1750Lys)
c.4876C>A (p.Gln1626Lys)
c.5032C>A (p.Gln1678Lys)
c.5239C>A (p.Gln1747Lys)
c.4540C>A (p.Gln1514Lys)
c.5287C>A (p.Gln1763Lys)
gnomAD v4
16g.3729758delCA2631398909CREBBPc.5293del (p.Gln1765ArgfsTer6)
c.5179del (p.Gln1727ArgfsTer6)
c.5248del (p.Gln1750ArgfsTer6)
c.4876del (p.Gln1626ArgfsTer6)
c.5032del (p.Gln1678ArgfsTer6)
c.5239del (p.Gln1747ArgfsTer6)
c.4540del (p.Gln1514ArgfsTer6)
c.5287del (p.Gln1763ArgfsTer6)
gnomAD v4
16g.3729755G>ACA493394244CREBBPc.5292C>T (p.Pro1764=)
c.5178C>T (p.Pro1726=)
c.5247C>T (p.Pro1749=)
c.4875C>T (p.Pro1625=)
c.5031C>T (p.Pro1677=)
c.5238C>T (p.Pro1746=)
c.4539C>T (p.Pro1513=)
c.5286C>T (p.Pro1762=)
ClinVar dbSNP gnomAD v4
16g.3729755G>CCA493394243CREBBPc.5292C>G (p.Pro1764=)
c.5178C>G (p.Pro1726=)
c.5247C>G (p.Pro1749=)
c.4875C>G (p.Pro1625=)
c.5031C>G (p.Pro1677=)
c.5238C>G (p.Pro1746=)
c.4539C>G (p.Pro1513=)
c.5286C>G (p.Pro1762=)
dbSNP
16g.3729755G=CA2202916515CREBBPc.5292C= (p.Pro1764=)
c.5178C= (p.Pro1726=)
c.5247C= (p.Pro1749=)
c.4875C= (p.Pro1625=)
c.5031C= (p.Pro1677=)
c.5238C= (p.Pro1746=)
c.4539C= (p.Pro1513=)
c.5286C= (p.Pro1762=)
16g.3729755G>TCA493394241CREBBPc.5292C>A (p.Pro1764=)
c.5178C>A (p.Pro1726=)
c.5247C>A (p.Pro1749=)
c.4875C>A (p.Pro1625=)
c.5031C>A (p.Pro1677=)
c.5238C>A (p.Pro1746=)
c.4539C>A (p.Pro1513=)
c.5286C>A (p.Pro1762=)
dbSNP gnomAD v4
16g.3729756G>ACA394557310CREBBPc.5291C>T (p.Pro1764Leu)
c.5177C>T (p.Pro1726Leu)
c.5246C>T (p.Pro1749Leu)
c.4874C>T (p.Pro1625Leu)
c.5030C>T (p.Pro1677Leu)
c.5237C>T (p.Pro1746Leu)
c.4538C>T (p.Pro1513Leu)
c.5285C>T (p.Pro1762Leu)
dbSNP
16g.3729756G>CCA394557311CREBBPc.5291C>G (p.Pro1764Arg)
c.5177C>G (p.Pro1726Arg)
c.5246C>G (p.Pro1749Arg)
c.4874C>G (p.Pro1625Arg)
c.5030C>G (p.Pro1677Arg)
c.5237C>G (p.Pro1746Arg)
c.4538C>G (p.Pro1513Arg)
c.5285C>G (p.Pro1762Arg)
dbSNP
16g.3729756G>TCA394557312CREBBPc.5291C>A (p.Pro1764His)
c.5177C>A (p.Pro1726His)
c.5246C>A (p.Pro1749His)
c.4874C>A (p.Pro1625His)
c.5030C>A (p.Pro1677His)
c.5237C>A (p.Pro1746His)
c.4538C>A (p.Pro1513His)
c.5285C>A (p.Pro1762His)
dbSNP
16g.3729757G>ACA394557318CREBBPc.5290C>T (p.Pro1764Ser)
c.5176C>T (p.Pro1726Ser)
c.5245C>T (p.Pro1749Ser)
c.4873C>T (p.Pro1625Ser)
c.5029C>T (p.Pro1677Ser)
c.5236C>T (p.Pro1746Ser)
c.4537C>T (p.Pro1513Ser)
c.5284C>T (p.Pro1762Ser)
16g.3729757G>CCA394557315CREBBPc.5290C>G (p.Pro1764Ala)
c.5176C>G (p.Pro1726Ala)
c.5245C>G (p.Pro1749Ala)
c.4873C>G (p.Pro1625Ala)
c.5029C>G (p.Pro1677Ala)
c.5236C>G (p.Pro1746Ala)
c.4537C>G (p.Pro1513Ala)
c.5284C>G (p.Pro1762Ala)
dbSNP
16g.3729757G>TCA394557317CREBBPc.5290C>A (p.Pro1764Thr)
c.5176C>A (p.Pro1726Thr)
c.5245C>A (p.Pro1749Thr)
c.4873C>A (p.Pro1625Thr)
c.5029C>A (p.Pro1677Thr)
c.5236C>A (p.Pro1746Thr)
c.4537C>A (p.Pro1513Thr)
c.5284C>A (p.Pro1762Thr)
dbSNP gnomAD v4
16g.3729758G>ACA493394245CREBBPc.5289C>T (p.Ser1763=)
c.5175C>T (p.Ser1725=)
c.5244C>T (p.Ser1748=)
c.4872C>T (p.Ser1624=)
c.5028C>T (p.Ser1676=)
c.5235C>T (p.Ser1745=)
c.4536C>T (p.Ser1512=)
c.5283C>T (p.Ser1761=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.3729758G>CCA394557321CREBBPc.5289C>G (p.Ser1763Arg)
c.5175C>G (p.Ser1725Arg)
c.5244C>G (p.Ser1748Arg)
c.4872C>G (p.Ser1624Arg)
c.5028C>G (p.Ser1676Arg)
c.5235C>G (p.Ser1745Arg)
c.4536C>G (p.Ser1512Arg)
c.5283C>G (p.Ser1761Arg)
dbSNP gnomAD v4
16g.3729758G=CA2202916516CREBBPc.5289C= (p.Ser1763=)
c.5175C= (p.Ser1725=)
c.5244C= (p.Ser1748=)
c.4872C= (p.Ser1624=)
c.5028C= (p.Ser1676=)
c.5235C= (p.Ser1745=)
c.4536C= (p.Ser1512=)
c.5283C= (p.Ser1761=)
16g.3729758G>TCA394557322CREBBPc.5289C>A (p.Ser1763Arg)
c.5175C>A (p.Ser1725Arg)
c.5244C>A (p.Ser1748Arg)
c.4872C>A (p.Ser1624Arg)
c.5028C>A (p.Ser1676Arg)
c.5235C>A (p.Ser1745Arg)
c.4536C>A (p.Ser1512Arg)
c.5283C>A (p.Ser1761Arg)
gnomAD v4
16g.3729759C>ACA394557323CREBBPc.5288G>T (p.Ser1763Ile)
c.5174G>T (p.Ser1725Ile)
c.5243G>T (p.Ser1748Ile)
c.4871G>T (p.Ser1624Ile)
c.5027G>T (p.Ser1676Ile)
c.5234G>T (p.Ser1745Ile)
c.4535G>T (p.Ser1512Ile)
c.5282G>T (p.Ser1761Ile)
dbSNP gnomAD v4
16g.3729759C=CA2202916517CREBBPc.5288G= (p.Ser1763=)
c.5174G= (p.Ser1725=)
c.5243G= (p.Ser1748=)
c.4871G= (p.Ser1624=)
c.5027G= (p.Ser1676=)
c.5234G= (p.Ser1745=)
c.4535G= (p.Ser1512=)
c.5282G= (p.Ser1761=)
16g.3729759C>GCA394557325CREBBPc.5288G>C (p.Ser1763Thr)
c.5174G>C (p.Ser1725Thr)
c.5243G>C (p.Ser1748Thr)
c.4871G>C (p.Ser1624Thr)
c.5027G>C (p.Ser1676Thr)
c.5234G>C (p.Ser1745Thr)
c.4535G>C (p.Ser1512Thr)
c.5282G>C (p.Ser1761Thr)
dbSNP gnomAD v4
16g.3729759C>TCA7869296CREBBPc.5288G>A (p.Ser1763Asn)
c.5174G>A (p.Ser1725Asn)
c.5243G>A (p.Ser1748Asn)
c.4871G>A (p.Ser1624Asn)
c.5027G>A (p.Ser1676Asn)
c.5234G>A (p.Ser1745Asn)
c.4535G>A (p.Ser1512Asn)
c.5282G>A (p.Ser1761Asn)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3729760T>ACA394557328CREBBPc.5287A>T (p.Ser1763Cys)
c.5173A>T (p.Ser1725Cys)
c.5242A>T (p.Ser1748Cys)
c.4870A>T (p.Ser1624Cys)
c.5026A>T (p.Ser1676Cys)
c.5233A>T (p.Ser1745Cys)
c.4534A>T (p.Ser1512Cys)
c.5281A>T (p.Ser1761Cys)
16g.3729760T>CCA394557330CREBBPc.5287A>G (p.Ser1763Gly)
c.5173A>G (p.Ser1725Gly)
c.5242A>G (p.Ser1748Gly)
c.4870A>G (p.Ser1624Gly)
c.5026A>G (p.Ser1676Gly)
c.5233A>G (p.Ser1745Gly)
c.4534A>G (p.Ser1512Gly)
c.5281A>G (p.Ser1761Gly)
16g.3729760T>GCA394557332CREBBPc.5287A>C (p.Ser1763Arg)
c.5173A>C (p.Ser1725Arg)
c.5242A>C (p.Ser1748Arg)
c.4870A>C (p.Ser1624Arg)
c.5026A>C (p.Ser1676Arg)
c.5233A>C (p.Ser1745Arg)
c.4534A>C (p.Ser1512Arg)
c.5281A>C (p.Ser1761Arg)
16g.3729761C>ACA394557334CREBBPc.5286G>T (p.Lys1762Asn)
c.5172G>T (p.Lys1724Asn)
c.5241G>T (p.Lys1747Asn)
c.4869G>T (p.Lys1623Asn)
c.5025G>T (p.Lys1675Asn)
c.5232G>T (p.Lys1744Asn)
c.4533G>T (p.Lys1511Asn)
c.5280G>T (p.Lys1760Asn)
16g.3729761C=CA2202916518CREBBPc.5286G= (p.Lys1762=)
c.5172G= (p.Lys1724=)
c.5241G= (p.Lys1747=)
c.4869G= (p.Lys1623=)
c.5025G= (p.Lys1675=)
c.5232G= (p.Lys1744=)
c.4533G= (p.Lys1511=)
c.5280G= (p.Lys1760=)
16g.3729761C>GCA394557335CREBBPc.5286G>C (p.Lys1762Asn)
c.5172G>C (p.Lys1724Asn)
c.5241G>C (p.Lys1747Asn)
c.4869G>C (p.Lys1623Asn)
c.5025G>C (p.Lys1675Asn)
c.5232G>C (p.Lys1744Asn)
c.4533G>C (p.Lys1511Asn)
c.5280G>C (p.Lys1760Asn)
dbSNP
16g.3729761C>TCA493394248CREBBPc.5286G>A (p.Lys1762=)
c.5172G>A (p.Lys1724=)
c.5241G>A (p.Lys1747=)
c.4869G>A (p.Lys1623=)
c.5025G>A (p.Lys1675=)
c.5232G>A (p.Lys1744=)
c.4533G>A (p.Lys1511=)
c.5280G>A (p.Lys1760=)
ClinVar dbSNP gnomAD v3 gnomAD v4
16g.3729762T>ACA394557338CREBBPc.5285A>T (p.Lys1762Met)
c.5171A>T (p.Lys1724Met)
c.5240A>T (p.Lys1747Met)
c.4868A>T (p.Lys1623Met)
c.5024A>T (p.Lys1675Met)
c.5231A>T (p.Lys1744Met)
c.4532A>T (p.Lys1511Met)
c.5279A>T (p.Lys1760Met)
dbSNP gnomAD v4
16g.3729762T>CCA394557340CREBBPc.5285A>G (p.Lys1762Arg)
c.5171A>G (p.Lys1724Arg)
c.5240A>G (p.Lys1747Arg)
c.4868A>G (p.Lys1623Arg)
c.5024A>G (p.Lys1675Arg)
c.5231A>G (p.Lys1744Arg)
c.4532A>G (p.Lys1511Arg)
c.5279A>G (p.Lys1760Arg)
dbSNP
16g.3729762T>GCA394557342CREBBPc.5285A>C (p.Lys1762Thr)
c.5171A>C (p.Lys1724Thr)
c.5240A>C (p.Lys1747Thr)
c.4868A>C (p.Lys1623Thr)
c.5024A>C (p.Lys1675Thr)
c.5231A>C (p.Lys1744Thr)
c.4532A>C (p.Lys1511Thr)
c.5279A>C (p.Lys1760Thr)
dbSNP
16g.3729763T>ACA394557344CREBBPc.5284A>T (p.Lys1762Ter)
c.5170A>T (p.Lys1724Ter)
c.5239A>T (p.Lys1747Ter)
c.4867A>T (p.Lys1623Ter)
c.5023A>T (p.Lys1675Ter)
c.5230A>T (p.Lys1744Ter)
c.4531A>T (p.Lys1511Ter)
c.5278A>T (p.Lys1760Ter)
dbSNP COSMIC
16g.3729763T>CCA394557347CREBBPc.5284A>G (p.Lys1762Glu)
c.5170A>G (p.Lys1724Glu)
c.5239A>G (p.Lys1747Glu)
c.4867A>G (p.Lys1623Glu)
c.5023A>G (p.Lys1675Glu)
c.5230A>G (p.Lys1744Glu)
c.4531A>G (p.Lys1511Glu)
c.5278A>G (p.Lys1760Glu)
dbSNP gnomAD v4
16g.3729763T>GCA394557345CREBBPc.5284A>C (p.Lys1762Gln)
c.5170A>C (p.Lys1724Gln)
c.5239A>C (p.Lys1747Gln)
c.4867A>C (p.Lys1623Gln)
c.5023A>C (p.Lys1675Gln)
c.5230A>C (p.Lys1744Gln)
c.4531A>C (p.Lys1511Gln)
c.5278A>C (p.Lys1760Gln)
16g.3729764T>ACA493394250CREBBPc.5283A>T (p.Ser1761=)
c.5169A>T (p.Ser1723=)
c.5238A>T (p.Ser1746=)
c.4866A>T (p.Ser1622=)
c.5022A>T (p.Ser1674=)
c.5229A>T (p.Ser1743=)
c.4530A>T (p.Ser1510=)
c.5277A>T (p.Ser1759=)
16g.3729764T>CCA276972295CREBBPc.5283A>G (p.Ser1761=)
c.5169A>G (p.Ser1723=)
c.5238A>G (p.Ser1746=)
c.4866A>G (p.Ser1622=)
c.5022A>G (p.Ser1674=)
c.5229A>G (p.Ser1743=)
c.4530A>G (p.Ser1510=)
c.5277A>G (p.Ser1759=)
dbSNP gnomAD v4
16g.3729764T>GCA493394252CREBBPc.5283A>C (p.Ser1761=)
c.5169A>C (p.Ser1723=)
c.5238A>C (p.Ser1746=)
c.4866A>C (p.Ser1622=)
c.5022A>C (p.Ser1674=)
c.5229A>C (p.Ser1743=)
c.4530A>C (p.Ser1510=)
c.5277A>C (p.Ser1759=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.3729764T=CA2202916519CREBBPc.5283A= (p.Ser1761=)
c.5169A= (p.Ser1723=)
c.5238A= (p.Ser1746=)
c.4866A= (p.Ser1622=)
c.5022A= (p.Ser1674=)
c.5229A= (p.Ser1743=)
c.4530A= (p.Ser1510=)
c.5277A= (p.Ser1759=)
16g.3729766_3729785delCA645575162CREBBPc.5264_5283del (p.Ser1755LysfsTer?)
c.5150_5169del (p.Ser1717LysfsTer?)
c.5219_5238del (p.Ser1740LysfsTer?)
c.4847_4866del (p.Ser1616LysfsTer?)
c.5003_5022del (p.Ser1668LysfsTer?)
c.5210_5229del (p.Ser1737LysfsTer?)
c.4511_4530del (p.Ser1504LysfsTer?)
c.5258_5277del (p.Ser1753LysfsTer?)
COSMIC
16g.3729765G>ACA394557349CREBBPc.5282C>T (p.Ser1761Leu)
c.5168C>T (p.Ser1723Leu)
c.5237C>T (p.Ser1746Leu)
c.4865C>T (p.Ser1622Leu)
c.5021C>T (p.Ser1674Leu)
c.5228C>T (p.Ser1743Leu)
c.4529C>T (p.Ser1510Leu)
c.5276C>T (p.Ser1759Leu)
dbSNP
16g.3729765G>CCA394557351CREBBPc.5282C>G (p.Ser1761Ter)
c.5168C>G (p.Ser1723Ter)
c.5237C>G (p.Ser1746Ter)
c.4865C>G (p.Ser1622Ter)
c.5021C>G (p.Ser1674Ter)
c.5228C>G (p.Ser1743Ter)
c.4529C>G (p.Ser1510Ter)
c.5276C>G (p.Ser1759Ter)
dbSNP COSMIC
16g.3729765G>TCA394557353CREBBPc.5282C>A (p.Ser1761Ter)
c.5168C>A (p.Ser1723Ter)
c.5237C>A (p.Ser1746Ter)
c.4865C>A (p.Ser1622Ter)
c.5021C>A (p.Ser1674Ter)
c.5228C>A (p.Ser1743Ter)
c.4529C>A (p.Ser1510Ter)
c.5276C>A (p.Ser1759Ter)
dbSNP gnomAD v4 COSMIC
16g.3729766A>CCA394557354CREBBPc.5281T>G (p.Ser1761Ala)
c.5167T>G (p.Ser1723Ala)
c.5236T>G (p.Ser1746Ala)
c.4864T>G (p.Ser1622Ala)
c.5020T>G (p.Ser1674Ala)
c.5227T>G (p.Ser1743Ala)
c.4528T>G (p.Ser1510Ala)
c.5275T>G (p.Ser1759Ala)
dbSNP
16g.3729766A>GCA394557356CREBBPc.5281T>C (p.Ser1761Pro)
c.5167T>C (p.Ser1723Pro)
c.5236T>C (p.Ser1746Pro)
c.4864T>C (p.Ser1622Pro)
c.5020T>C (p.Ser1674Pro)
c.5227T>C (p.Ser1743Pro)
c.4528T>C (p.Ser1510Pro)
c.5275T>C (p.Ser1759Pro)
dbSNP gnomAD v4
16g.3729766A>TCA394557357CREBBPc.5281T>A (p.Ser1761Thr)
c.5167T>A (p.Ser1723Thr)
c.5236T>A (p.Ser1746Thr)
c.4864T>A (p.Ser1622Thr)
c.5020T>A (p.Ser1674Thr)
c.5227T>A (p.Ser1743Thr)
c.4528T>A (p.Ser1510Thr)
c.5275T>A (p.Ser1759Thr)
dbSNP
16g.3729767C>ACA394557359CREBBPc.5280G>T (p.Gln1760His)
c.5166G>T (p.Gln1722His)
c.5235G>T (p.Gln1745His)
c.4863G>T (p.Gln1621His)
c.5019G>T (p.Gln1673His)
c.5226G>T (p.Gln1742His)
c.4527G>T (p.Gln1509His)
c.5274G>T (p.Gln1758His)
dbSNP
16g.3729767C=CA2202916520CREBBPc.5280G= (p.Gln1760=)
c.5166G= (p.Gln1722=)
c.5235G= (p.Gln1745=)
c.4863G= (p.Gln1621=)
c.5019G= (p.Gln1673=)
c.5226G= (p.Gln1742=)
c.4527G= (p.Gln1509=)
c.5274G= (p.Gln1758=)
16g.3729767C>GCA394557360CREBBPc.5280G>C (p.Gln1760His)
c.5166G>C (p.Gln1722His)
c.5235G>C (p.Gln1745His)
c.4863G>C (p.Gln1621His)
c.5019G>C (p.Gln1673His)
c.5226G>C (p.Gln1742His)
c.4527G>C (p.Gln1509His)
c.5274G>C (p.Gln1758His)
dbSNP
16g.3729767C>TCA493394253CREBBPc.5280G>A (p.Gln1760=)
c.5166G>A (p.Gln1722=)
c.5235G>A (p.Gln1745=)
c.4863G>A (p.Gln1621=)
c.5019G>A (p.Gln1673=)
c.5226G>A (p.Gln1742=)
c.4527G>A (p.Gln1509=)
c.5274G>A (p.Gln1758=)
dbSNP gnomAD v2
16g.3729768T>ACA394557362CREBBPc.5279A>T (p.Gln1760Leu)
c.5165A>T (p.Gln1722Leu)
c.5234A>T (p.Gln1745Leu)
c.4862A>T (p.Gln1621Leu)
c.5018A>T (p.Gln1673Leu)
c.5225A>T (p.Gln1742Leu)
c.4526A>T (p.Gln1509Leu)
c.5273A>T (p.Gln1758Leu)
dbSNP
16g.3729768T>CCA394557364CREBBPc.5279A>G (p.Gln1760Arg)
c.5165A>G (p.Gln1722Arg)
c.5234A>G (p.Gln1745Arg)
c.4862A>G (p.Gln1621Arg)
c.5018A>G (p.Gln1673Arg)
c.5225A>G (p.Gln1742Arg)
c.4526A>G (p.Gln1509Arg)
c.5273A>G (p.Gln1758Arg)
dbSNP gnomAD v4
16g.3729768T>GCA394557366CREBBPc.5279A>C (p.Gln1760Pro)
c.5165A>C (p.Gln1722Pro)
c.5234A>C (p.Gln1745Pro)
c.4862A>C (p.Gln1621Pro)
c.5018A>C (p.Gln1673Pro)
c.5225A>C (p.Gln1742Pro)
c.4526A>C (p.Gln1509Pro)
c.5273A>C (p.Gln1758Pro)
16g.3729769G>ACA394557370CREBBPc.5278C>T (p.Gln1760Ter)
c.5164C>T (p.Gln1722Ter)
c.5233C>T (p.Gln1745Ter)
c.4861C>T (p.Gln1621Ter)
c.5017C>T (p.Gln1673Ter)
c.5224C>T (p.Gln1742Ter)
c.4525C>T (p.Gln1509Ter)
c.5272C>T (p.Gln1758Ter)
dbSNP COSMIC
16g.3729769G>CCA394557369CREBBPc.5278C>G (p.Gln1760Glu)
c.5164C>G (p.Gln1722Glu)
c.5233C>G (p.Gln1745Glu)
c.4861C>G (p.Gln1621Glu)
c.5017C>G (p.Gln1673Glu)
c.5224C>G (p.Gln1742Glu)
c.4525C>G (p.Gln1509Glu)
c.5272C>G (p.Gln1758Glu)
dbSNP
16g.3729769G>TCA394557368CREBBPc.5278C>A (p.Gln1760Lys)
c.5164C>A (p.Gln1722Lys)
c.5233C>A (p.Gln1745Lys)
c.4861C>A (p.Gln1621Lys)
c.5017C>A (p.Gln1673Lys)
c.5224C>A (p.Gln1742Lys)
c.4525C>A (p.Gln1509Lys)
c.5272C>A (p.Gln1758Lys)
gnomAD v4
16g.3729770T>ACA493394256CREBBPc.5277A>T (p.Pro1759=)
c.5163A>T (p.Pro1721=)
c.5232A>T (p.Pro1744=)
c.4860A>T (p.Pro1620=)
c.5016A>T (p.Pro1672=)
c.5223A>T (p.Pro1741=)
c.4524A>T (p.Pro1508=)
c.5271A>T (p.Pro1757=)
dbSNP COSMIC
16g.3729770T>CCA7869297CREBBPc.5277A>G (p.Pro1759=)
c.5163A>G (p.Pro1721=)
c.5232A>G (p.Pro1744=)
c.4860A>G (p.Pro1620=)
c.5016A>G (p.Pro1672=)
c.5223A>G (p.Pro1741=)
c.4524A>G (p.Pro1508=)
c.5271A>G (p.Pro1757=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3729770T>GCA493394257CREBBPc.5277A>C (p.Pro1759=)
c.5163A>C (p.Pro1721=)
c.5232A>C (p.Pro1744=)
c.4860A>C (p.Pro1620=)
c.5016A>C (p.Pro1672=)
c.5223A>C (p.Pro1741=)
c.4524A>C (p.Pro1508=)
c.5271A>C (p.Pro1757=)
dbSNP
16g.3729770T=CA2202916521CREBBPc.5277A= (p.Pro1759=)
c.5163A= (p.Pro1721=)
c.5232A= (p.Pro1744=)
c.4860A= (p.Pro1620=)
c.5016A= (p.Pro1672=)
c.5223A= (p.Pro1741=)
c.4524A= (p.Pro1508=)
c.5271A= (p.Pro1757=)
16g.3729771G>ACA394557374CREBBPc.5276C>T (p.Pro1759Leu)
c.5162C>T (p.Pro1721Leu)
c.5231C>T (p.Pro1744Leu)
c.4859C>T (p.Pro1620Leu)
c.5015C>T (p.Pro1672Leu)
c.5222C>T (p.Pro1741Leu)
c.4523C>T (p.Pro1508Leu)
c.5270C>T (p.Pro1757Leu)
dbSNP
16g.3729771G>CCA394557375CREBBPc.5276C>G (p.Pro1759Arg)
c.5162C>G (p.Pro1721Arg)
c.5231C>G (p.Pro1744Arg)
c.4859C>G (p.Pro1620Arg)
c.5015C>G (p.Pro1672Arg)
c.5222C>G (p.Pro1741Arg)
c.4523C>G (p.Pro1508Arg)
c.5270C>G (p.Pro1757Arg)
16g.3729771G>TCA394557377CREBBPc.5276C>A (p.Pro1759Gln)
c.5162C>A (p.Pro1721Gln)
c.5231C>A (p.Pro1744Gln)
c.4859C>A (p.Pro1620Gln)
c.5015C>A (p.Pro1672Gln)
c.5222C>A (p.Pro1741Gln)
c.4523C>A (p.Pro1508Gln)
c.5270C>A (p.Pro1757Gln)
16g.3729772G>ACA394557380CREBBPc.5275C>T (p.Pro1759Ser)
c.5161C>T (p.Pro1721Ser)
c.5230C>T (p.Pro1744Ser)
c.4858C>T (p.Pro1620Ser)
c.5014C>T (p.Pro1672Ser)
c.5221C>T (p.Pro1741Ser)
c.4522C>T (p.Pro1508Ser)
c.5269C>T (p.Pro1757Ser)
dbSNP gnomAD v4
16g.3729772G>CCA394557383CREBBPc.5275C>G (p.Pro1759Ala)
c.5161C>G (p.Pro1721Ala)
c.5230C>G (p.Pro1744Ala)
c.4858C>G (p.Pro1620Ala)
c.5014C>G (p.Pro1672Ala)
c.5221C>G (p.Pro1741Ala)
c.4522C>G (p.Pro1508Ala)
c.5269C>G (p.Pro1757Ala)
dbSNP gnomAD v4
16g.3729772G>TCA394557384CREBBPc.5275C>A (p.Pro1759Thr)
c.5161C>A (p.Pro1721Thr)
c.5230C>A (p.Pro1744Thr)
c.4858C>A (p.Pro1620Thr)
c.5014C>A (p.Pro1672Thr)
c.5221C>A (p.Pro1741Thr)
c.4522C>A (p.Pro1508Thr)
c.5269C>A (p.Pro1757Thr)
dbSNP gnomAD v4 COSMIC
16g.3729773C>ACA394557385CREBBPc.5274G>T (p.Glu1758Asp)
c.5160G>T (p.Glu1720Asp)
c.5229G>T (p.Glu1743Asp)
c.4857G>T (p.Glu1619Asp)
c.5013G>T (p.Glu1671Asp)
c.5220G>T (p.Glu1740Asp)
c.4521G>T (p.Glu1507Asp)
c.5268G>T (p.Glu1756Asp)
dbSNP gnomAD v3 gnomAD v4
16g.3729773C=CA2202916522CREBBPc.5274G= (p.Glu1758=)
c.5160G= (p.Glu1720=)
c.5229G= (p.Glu1743=)
c.4857G= (p.Glu1619=)
c.5013G= (p.Glu1671=)
c.5220G= (p.Glu1740=)
c.4521G= (p.Glu1507=)
c.5268G= (p.Glu1756=)
16g.3729773C>GCA394557386CREBBPc.5274G>C (p.Glu1758Asp)
c.5160G>C (p.Glu1720Asp)
c.5229G>C (p.Glu1743Asp)
c.4857G>C (p.Glu1619Asp)
c.5013G>C (p.Glu1671Asp)
c.5220G>C (p.Glu1740Asp)
c.4521G>C (p.Glu1507Asp)
c.5268G>C (p.Glu1756Asp)
dbSNP
16g.3729773C>TCA493394258CREBBPc.5274G>A (p.Glu1758=)
c.5160G>A (p.Glu1720=)
c.5229G>A (p.Glu1743=)
c.4857G>A (p.Glu1619=)
c.5013G>A (p.Glu1671=)
c.5220G>A (p.Glu1740=)
c.4521G>A (p.Glu1507=)
c.5268G>A (p.Glu1756=)
dbSNP gnomAD v3 gnomAD v4
16g.3729774T>ACA394557388CREBBPc.5273A>T (p.Glu1758Val)
c.5159A>T (p.Glu1720Val)
c.5228A>T (p.Glu1743Val)
c.4856A>T (p.Glu1619Val)
c.5012A>T (p.Glu1671Val)
c.5219A>T (p.Glu1740Val)
c.4520A>T (p.Glu1507Val)
c.5267A>T (p.Glu1756Val)
dbSNP
16g.3729774T>CCA394557393CREBBPc.5273A>G (p.Glu1758Gly)
c.5159A>G (p.Glu1720Gly)
c.5228A>G (p.Glu1743Gly)
c.4856A>G (p.Glu1619Gly)
c.5012A>G (p.Glu1671Gly)
c.5219A>G (p.Glu1740Gly)
c.4520A>G (p.Glu1507Gly)
c.5267A>G (p.Glu1756Gly)
dbSNP
16g.3729774T>GCA394557395CREBBPc.5273A>C (p.Glu1758Ala)
c.5159A>C (p.Glu1720Ala)
c.5228A>C (p.Glu1743Ala)
c.4856A>C (p.Glu1619Ala)
c.5012A>C (p.Glu1671Ala)
c.5219A>C (p.Glu1740Ala)
c.4520A>C (p.Glu1507Ala)
c.5267A>C (p.Glu1756Ala)
dbSNP
16g.3729775C>ACA394557401CREBBPc.5272G>T (p.Glu1758Ter)
c.5158G>T (p.Glu1720Ter)
c.5227G>T (p.Glu1743Ter)
c.4855G>T (p.Glu1619Ter)
c.5011G>T (p.Glu1671Ter)
c.5218G>T (p.Glu1740Ter)
c.4519G>T (p.Glu1507Ter)
c.5266G>T (p.Glu1756Ter)
dbSNP gnomAD v4
16g.3729775C=CA2202916523CREBBPc.5272G= (p.Glu1758=)
c.5158G= (p.Glu1720=)
c.5227G= (p.Glu1743=)
c.4855G= (p.Glu1619=)
c.5011G= (p.Glu1671=)
c.5218G= (p.Glu1740=)
c.4519G= (p.Glu1507=)
c.5266G= (p.Glu1756=)
16g.3729775C>GCA394557397CREBBPc.5272G>C (p.Glu1758Gln)
c.5158G>C (p.Glu1720Gln)
c.5227G>C (p.Glu1743Gln)
c.4855G>C (p.Glu1619Gln)
c.5011G>C (p.Glu1671Gln)
c.5218G>C (p.Glu1740Gln)
c.4519G>C (p.Glu1507Gln)
c.5266G>C (p.Glu1756Gln)
dbSNP
16g.3729775C>TCA394557399CREBBPc.5272G>A (p.Glu1758Lys)
c.5158G>A (p.Glu1720Lys)
c.5227G>A (p.Glu1743Lys)
c.4855G>A (p.Glu1619Lys)
c.5011G>A (p.Glu1671Lys)
c.5218G>A (p.Glu1740Lys)
c.4519G>A (p.Glu1507Lys)
c.5266G>A (p.Glu1756Lys)
dbSNP gnomAD v2 gnomAD v4
16g.3729776G>ACA7869299CREBBPc.5271C>T (p.Gly1757=)
c.5157C>T (p.Gly1719=)
c.5226C>T (p.Gly1742=)
c.4854C>T (p.Gly1618=)
c.5010C>T (p.Gly1670=)
c.5217C>T (p.Gly1739=)
c.4518C>T (p.Gly1506=)
c.5265C>T (p.Gly1755=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.3729776G>CCA7869298CREBBPc.5271C>G (p.Gly1757=)
c.5157C>G (p.Gly1719=)
c.5226C>G (p.Gly1742=)
c.4854C>G (p.Gly1618=)
c.5010C>G (p.Gly1670=)
c.5217C>G (p.Gly1739=)
c.4518C>G (p.Gly1506=)
c.5265C>G (p.Gly1755=)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.3729776G=CA2202916524CREBBPc.5271C= (p.Gly1757=)
c.5157C= (p.Gly1719=)
c.5226C= (p.Gly1742=)
c.4854C= (p.Gly1618=)
c.5010C= (p.Gly1670=)
c.5217C= (p.Gly1739=)
c.4518C= (p.Gly1506=)
c.5265C= (p.Gly1755=)
16g.3729776G>TCA493394259CREBBPc.5271C>A (p.Gly1757=)
c.5157C>A (p.Gly1719=)
c.5226C>A (p.Gly1742=)
c.4854C>A (p.Gly1618=)
c.5010C>A (p.Gly1670=)
c.5217C>A (p.Gly1739=)
c.4518C>A (p.Gly1506=)
c.5265C>A (p.Gly1755=)
dbSNP gnomAD v3 gnomAD v4
16g.3729777C>ACA394557404CREBBPc.5270G>T (p.Gly1757Val)
c.5156G>T (p.Gly1719Val)
c.5225G>T (p.Gly1742Val)
c.4853G>T (p.Gly1618Val)
c.5009G>T (p.Gly1670Val)
c.5216G>T (p.Gly1739Val)
c.4517G>T (p.Gly1506Val)
c.5264G>T (p.Gly1755Val)
dbSNP
16g.3729777C>GCA394557407CREBBPc.5270G>C (p.Gly1757Ala)
c.5156G>C (p.Gly1719Ala)
c.5225G>C (p.Gly1742Ala)
c.4853G>C (p.Gly1618Ala)
c.5009G>C (p.Gly1670Ala)
c.5216G>C (p.Gly1739Ala)
c.4517G>C (p.Gly1506Ala)
c.5264G>C (p.Gly1755Ala)
dbSNP
16g.3729777C>TCA394557406CREBBPc.5270G>A (p.Gly1757Asp)
c.5156G>A (p.Gly1719Asp)
c.5225G>A (p.Gly1742Asp)
c.4853G>A (p.Gly1618Asp)
c.5009G>A (p.Gly1670Asp)
c.5216G>A (p.Gly1739Asp)
c.4517G>A (p.Gly1506Asp)
c.5264G>A (p.Gly1755Asp)
dbSNP gnomAD v4
16g.3729778C>ACA394557410CREBBPc.5269G>T (p.Gly1757Cys)
c.5155G>T (p.Gly1719Cys)
c.5224G>T (p.Gly1742Cys)
c.4852G>T (p.Gly1618Cys)
c.5008G>T (p.Gly1670Cys)
c.5215G>T (p.Gly1739Cys)
c.4516G>T (p.Gly1506Cys)
c.5263G>T (p.Gly1755Cys)
dbSNP COSMIC
16g.3729778C>GCA394557414CREBBPc.5269G>C (p.Gly1757Arg)
c.5155G>C (p.Gly1719Arg)
c.5224G>C (p.Gly1742Arg)
c.4852G>C (p.Gly1618Arg)
c.5008G>C (p.Gly1670Arg)
c.5215G>C (p.Gly1739Arg)
c.4516G>C (p.Gly1506Arg)
c.5263G>C (p.Gly1755Arg)
dbSNP
16g.3729778C>TCA394557412CREBBPc.5269G>A (p.Gly1757Ser)
c.5155G>A (p.Gly1719Ser)
c.5224G>A (p.Gly1742Ser)
c.4852G>A (p.Gly1618Ser)
c.5008G>A (p.Gly1670Ser)
c.5215G>A (p.Gly1739Ser)
c.4516G>A (p.Gly1506Ser)
c.5263G>A (p.Gly1755Ser)
dbSNP gnomAD v4
16g.3729779C>ACA394557416CREBBPc.5268G>T (p.Gln1756His)
c.5154G>T (p.Gln1718His)
c.5223G>T (p.Gln1741His)
c.4851G>T (p.Gln1617His)
c.5007G>T (p.Gln1669His)
c.5214G>T (p.Gln1738His)
c.4515G>T (p.Gln1505His)
c.5262G>T (p.Gln1754His)
dbSNP
16g.3729779C=CA2202916526CREBBPc.5268G= (p.Gln1756=)
c.5154G= (p.Gln1718=)
c.5223G= (p.Gln1741=)
c.4851G= (p.Gln1617=)
c.5007G= (p.Gln1669=)
c.5214G= (p.Gln1738=)
c.4515G= (p.Gln1505=)
c.5262G= (p.Gln1754=)
16g.3729779C>GCA394557418CREBBPc.5268G>C (p.Gln1756His)
c.5154G>C (p.Gln1718His)
c.5223G>C (p.Gln1741His)
c.4851G>C (p.Gln1617His)
c.5007G>C (p.Gln1669His)
c.5214G>C (p.Gln1738His)
c.4515G>C (p.Gln1505His)
c.5262G>C (p.Gln1754His)
dbSNP
16g.3729779C>TCA493394262CREBBPc.5268G>A (p.Gln1756=)
c.5154G>A (p.Gln1718=)
c.5223G>A (p.Gln1741=)
c.4851G>A (p.Gln1617=)
c.5007G>A (p.Gln1669=)
c.5214G>A (p.Gln1738=)
c.4515G>A (p.Gln1505=)
c.5262G>A (p.Gln1754=)
ClinVar dbSNP gnomAD v3 gnomAD v4
16g.3729779_3729785delinsCTGGCTGCA2202916525CREBBPc.5262_5268delinsCAGCCAG (p.Ser1754=)
c.5148_5154delinsCAGCCAG (p.Ser1716=)
c.5217_5223delinsCAGCCAG (p.Ser1739=)
c.4845_4851delinsCAGCCAG (p.Ser1615=)
c.5001_5007delinsCAGCCAG (p.Ser1667=)
c.5208_5214delinsCAGCCAG (p.Ser1736=)
c.4509_4515delinsCAGCCAG (p.Ser1503=)
c.5256_5262delinsCAGCCAG (p.Ser1752=)
16g.3729780T>ACA394557420CREBBPc.5267A>T (p.Gln1756Leu)
c.5153A>T (p.Gln1718Leu)
c.5222A>T (p.Gln1741Leu)
c.4850A>T (p.Gln1617Leu)
c.5006A>T (p.Gln1669Leu)
c.5213A>T (p.Gln1738Leu)
c.4514A>T (p.Gln1505Leu)
c.5261A>T (p.Gln1754Leu)
16g.3729780T>CCA7869300CREBBPc.5267A>G (p.Gln1756Arg)
c.5153A>G (p.Gln1718Arg)
c.5222A>G (p.Gln1741Arg)
c.4850A>G (p.Gln1617Arg)
c.5006A>G (p.Gln1669Arg)
c.5213A>G (p.Gln1738Arg)
c.4514A>G (p.Gln1505Arg)
c.5261A>G (p.Gln1754Arg)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.3729780T>GCA394557423CREBBPc.5267A>C (p.Gln1756Pro)
c.5153A>C (p.Gln1718Pro)
c.5222A>C (p.Gln1741Pro)
c.4850A>C (p.Gln1617Pro)
c.5006A>C (p.Gln1669Pro)
c.5213A>C (p.Gln1738Pro)
c.4514A>C (p.Gln1505Pro)
c.5261A>C (p.Gln1754Pro)
16g.3729780T=CA2202916527CREBBPc.5267A= (p.Gln1756=)
c.5153A= (p.Gln1718=)
c.5222A= (p.Gln1741=)
c.4850A= (p.Gln1617=)
c.5006A= (p.Gln1669=)
c.5213A= (p.Gln1738=)
c.4514A= (p.Gln1505=)
c.5261A= (p.Gln1754=)
16g.3729780_3729781delCA645575163CREBBPc.5266_5267del (p.Gln1756GlyfsTer?)
c.5152_5153del (p.Gln1718GlyfsTer?)
c.5221_5222del (p.Gln1741GlyfsTer?)
c.4849_4850del (p.Gln1617GlyfsTer?)
c.5005_5006del (p.Gln1669GlyfsTer?)
c.5212_5213del (p.Gln1738GlyfsTer?)
c.4513_4514del (p.Gln1505GlyfsTer?)
c.5260_5261del (p.Gln1754GlyfsTer?)
COSMIC
16g.3729780_3729785delCA919643073CREBBPc.5262_5267del (p.Ser1754_Gln1756delinsArg)
c.5148_5153del (p.Ser1716_Gln1718delinsArg)
c.5217_5222del (p.Ser1739_Gln1741delinsArg)
c.4845_4850del (p.Ser1615_Gln1617delinsArg)
c.5001_5006del (p.Ser1667_Gln1669delinsArg)
c.5208_5213del (p.Ser1736_Gln1738delinsArg)
c.4509_4514del (p.Ser1503_Gln1505delinsArg)
c.5256_5261del (p.Ser1752_Gln1754delinsArg)
dbSNP
16g.3729781G>ACA394557425CREBBPc.5266C>T (p.Gln1756Ter)
c.5152C>T (p.Gln1718Ter)
c.5221C>T (p.Gln1741Ter)
c.4849C>T (p.Gln1617Ter)
c.5005C>T (p.Gln1669Ter)
c.5212C>T (p.Gln1738Ter)
c.4513C>T (p.Gln1505Ter)
c.5260C>T (p.Gln1754Ter)
COSMIC
16g.3729781G>CCA7869301CREBBPc.5266C>G (p.Gln1756Glu)
c.5152C>G (p.Gln1718Glu)
c.5221C>G (p.Gln1741Glu)
c.4849C>G (p.Gln1617Glu)
c.5005C>G (p.Gln1669Glu)
c.5212C>G (p.Gln1738Glu)
c.4513C>G (p.Gln1505Glu)
c.5260C>G (p.Gln1754Glu)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.3729781G=CA2202916528CREBBPc.5266C= (p.Gln1756=)
c.5152C= (p.Gln1718=)
c.5221C= (p.Gln1741=)
c.4849C= (p.Gln1617=)
c.5005C= (p.Gln1669=)
c.5212C= (p.Gln1738=)
c.4513C= (p.Gln1505=)
c.5260C= (p.Gln1754=)
16g.3729781G>TCA394557427CREBBPc.5266C>A (p.Gln1756Lys)
c.5152C>A (p.Gln1718Lys)
c.5221C>A (p.Gln1741Lys)
c.4849C>A (p.Gln1617Lys)
c.5005C>A (p.Gln1669Lys)
c.5212C>A (p.Gln1738Lys)
c.4513C>A (p.Gln1505Lys)
c.5260C>A (p.Gln1754Lys)
gnomAD v4
16g.3729782G>ACA493394264CREBBPc.5265C>T (p.Ser1755=)
c.5151C>T (p.Ser1717=)
c.5220C>T (p.Ser1740=)
c.4848C>T (p.Ser1616=)
c.5004C>T (p.Ser1668=)
c.5211C>T (p.Ser1737=)
c.4512C>T (p.Ser1504=)
c.5259C>T (p.Ser1753=)
dbSNP
16g.3729782G>CCA394557428CREBBPc.5265C>G (p.Ser1755Arg)
c.5151C>G (p.Ser1717Arg)
c.5220C>G (p.Ser1740Arg)
c.4848C>G (p.Ser1616Arg)
c.5004C>G (p.Ser1668Arg)
c.5211C>G (p.Ser1737Arg)
c.4512C>G (p.Ser1504Arg)
c.5259C>G (p.Ser1753Arg)
dbSNP
16g.3729782G>TCA394557430CREBBPc.5265C>A (p.Ser1755Arg)
c.5151C>A (p.Ser1717Arg)
c.5220C>A (p.Ser1740Arg)
c.4848C>A (p.Ser1616Arg)
c.5004C>A (p.Ser1668Arg)
c.5211C>A (p.Ser1737Arg)
c.4512C>A (p.Ser1504Arg)
c.5259C>A (p.Ser1753Arg)
dbSNP gnomAD v4
16g.3729783C>ACA394557435CREBBPc.5264G>T (p.Ser1755Ile)
c.5150G>T (p.Ser1717Ile)
c.5219G>T (p.Ser1740Ile)
c.4847G>T (p.Ser1616Ile)
c.5003G>T (p.Ser1668Ile)
c.5210G>T (p.Ser1737Ile)
c.4511G>T (p.Ser1504Ile)
c.5258G>T (p.Ser1753Ile)
dbSNP
16g.3729783C=CA2202916529CREBBPc.5264G= (p.Ser1755=)
c.5150G= (p.Ser1717=)
c.5219G= (p.Ser1740=)
c.4847G= (p.Ser1616=)
c.5003G= (p.Ser1668=)
c.5210G= (p.Ser1737=)
c.4511G= (p.Ser1504=)
c.5258G= (p.Ser1753=)
16g.3729783C>GCA394557433CREBBPc.5264G>C (p.Ser1755Thr)
c.5150G>C (p.Ser1717Thr)
c.5219G>C (p.Ser1740Thr)
c.4847G>C (p.Ser1616Thr)
c.5003G>C (p.Ser1668Thr)
c.5210G>C (p.Ser1737Thr)
c.4511G>C (p.Ser1504Thr)
c.5258G>C (p.Ser1753Thr)
dbSNP
16g.3729783C>TCA7869302CREBBPc.5264G>A (p.Ser1755Asn)
c.5150G>A (p.Ser1717Asn)
c.5219G>A (p.Ser1740Asn)
c.4847G>A (p.Ser1616Asn)
c.5003G>A (p.Ser1668Asn)
c.5210G>A (p.Ser1737Asn)
c.4511G>A (p.Ser1504Asn)
c.5258G>A (p.Ser1753Asn)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3729784T>ACA394557437CREBBPc.5263A>T (p.Ser1755Cys)
c.5149A>T (p.Ser1717Cys)
c.5218A>T (p.Ser1740Cys)
c.4846A>T (p.Ser1616Cys)
c.5002A>T (p.Ser1668Cys)
c.5209A>T (p.Ser1737Cys)
c.4510A>T (p.Ser1504Cys)
c.5257A>T (p.Ser1753Cys)
dbSNP
16g.3729784T>CCA394557439CREBBPc.5263A>G (p.Ser1755Gly)
c.5149A>G (p.Ser1717Gly)
c.5218A>G (p.Ser1740Gly)
c.4846A>G (p.Ser1616Gly)
c.5002A>G (p.Ser1668Gly)
c.5209A>G (p.Ser1737Gly)
c.4510A>G (p.Ser1504Gly)
c.5257A>G (p.Ser1753Gly)
dbSNP gnomAD v4
16g.3729784T>GCA394557440CREBBPc.5263A>C (p.Ser1755Arg)
c.5149A>C (p.Ser1717Arg)
c.5218A>C (p.Ser1740Arg)
c.4846A>C (p.Ser1616Arg)
c.5002A>C (p.Ser1668Arg)
c.5209A>C (p.Ser1737Arg)
c.4510A>C (p.Ser1504Arg)
c.5257A>C (p.Ser1753Arg)
16g.3729784T=CA2202916530CREBBPc.5263A= (p.Ser1755=)
c.5149A= (p.Ser1717=)
c.5218A= (p.Ser1740=)
c.4846A= (p.Ser1616=)
c.5002A= (p.Ser1668=)
c.5209A= (p.Ser1737=)
c.4510A= (p.Ser1504=)
c.5257A= (p.Ser1753=)
16g.3729785G>ACA493394267CREBBPc.5262C>T (p.Ser1754=)
c.5148C>T (p.Ser1716=)
c.5217C>T (p.Ser1739=)
c.4845C>T (p.Ser1615=)
c.5001C>T (p.Ser1667=)
c.5208C>T (p.Ser1736=)
c.4509C>T (p.Ser1503=)
c.5256C>T (p.Ser1752=)
gnomAD v4
16g.3729785G>CCA394557443CREBBPc.5262C>G (p.Ser1754Arg)
c.5148C>G (p.Ser1716Arg)
c.5217C>G (p.Ser1739Arg)
c.4845C>G (p.Ser1615Arg)
c.5001C>G (p.Ser1667Arg)
c.5208C>G (p.Ser1736Arg)
c.4509C>G (p.Ser1503Arg)
c.5256C>G (p.Ser1752Arg)
dbSNP
16g.3729785G>TCA394557444CREBBPc.5262C>A (p.Ser1754Arg)
c.5148C>A (p.Ser1716Arg)
c.5217C>A (p.Ser1739Arg)
c.4845C>A (p.Ser1615Arg)
c.5001C>A (p.Ser1667Arg)
c.5208C>A (p.Ser1736Arg)
c.4509C>A (p.Ser1503Arg)
c.5256C>A (p.Ser1752Arg)
gnomAD v4
16g.3729786C>ACA394557448CREBBPc.5261G>T (p.Ser1754Ile)
c.5147G>T (p.Ser1716Ile)
c.5216G>T (p.Ser1739Ile)
c.4844G>T (p.Ser1615Ile)
c.5000G>T (p.Ser1667Ile)
c.5207G>T (p.Ser1736Ile)
c.4508G>T (p.Ser1503Ile)
c.5255G>T (p.Ser1752Ile)
16g.3729786C>GCA394557450CREBBPc.5261G>C (p.Ser1754Thr)
c.5147G>C (p.Ser1716Thr)
c.5216G>C (p.Ser1739Thr)
c.4844G>C (p.Ser1615Thr)
c.5000G>C (p.Ser1667Thr)
c.5207G>C (p.Ser1736Thr)
c.4508G>C (p.Ser1503Thr)
c.5255G>C (p.Ser1752Thr)
dbSNP
16g.3729786C>TCA394557452CREBBPc.5261G>A (p.Ser1754Asn)
c.5147G>A (p.Ser1716Asn)
c.5216G>A (p.Ser1739Asn)
c.4844G>A (p.Ser1615Asn)
c.5000G>A (p.Ser1667Asn)
c.5207G>A (p.Ser1736Asn)
c.4508G>A (p.Ser1503Asn)
c.5255G>A (p.Ser1752Asn)
dbSNP gnomAD v4 COSMIC
16g.3729787T>ACA394557453CREBBPc.5260A>T (p.Ser1754Cys)
c.5146A>T (p.Ser1716Cys)
c.5215A>T (p.Ser1739Cys)
c.4843A>T (p.Ser1615Cys)
c.4999A>T (p.Ser1667Cys)
c.5206A>T (p.Ser1736Cys)
c.4507A>T (p.Ser1503Cys)
c.5254A>T (p.Ser1752Cys)
dbSNP
16g.3729787T>CCA394557455CREBBPc.5260A>G (p.Ser1754Gly)
c.5146A>G (p.Ser1716Gly)
c.5215A>G (p.Ser1739Gly)
c.4843A>G (p.Ser1615Gly)
c.4999A>G (p.Ser1667Gly)
c.5206A>G (p.Ser1736Gly)
c.4507A>G (p.Ser1503Gly)
c.5254A>G (p.Ser1752Gly)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.3729787T>GCA394557457CREBBPc.5260A>C (p.Ser1754Arg)
c.5146A>C (p.Ser1716Arg)
c.5215A>C (p.Ser1739Arg)
c.4843A>C (p.Ser1615Arg)
c.4999A>C (p.Ser1667Arg)
c.5206A>C (p.Ser1736Arg)
c.4507A>C (p.Ser1503Arg)
c.5254A>C (p.Ser1752Arg)
16g.3729787T=CA2202916531CREBBPc.5260A= (p.Ser1754=)
c.5146A= (p.Ser1716=)
c.5215A= (p.Ser1739=)
c.4843A= (p.Ser1615=)
c.4999A= (p.Ser1667=)
c.5206A= (p.Ser1736=)
c.4507A= (p.Ser1503=)
c.5254A= (p.Ser1752=)
16g.3729788G>ACA493394269CREBBPc.5259C>T (p.Gly1753=)
c.5145C>T (p.Gly1715=)
c.5214C>T (p.Gly1738=)
c.4842C>T (p.Gly1614=)
c.4998C>T (p.Gly1666=)
c.5205C>T (p.Gly1735=)
c.4506C>T (p.Gly1502=)
c.5253C>T (p.Gly1751=)
gnomAD v4
16g.3729788G>CCA493394271CREBBPc.5259C>G (p.Gly1753=)
c.5145C>G (p.Gly1715=)
c.5214C>G (p.Gly1738=)
c.4842C>G (p.Gly1614=)
c.4998C>G (p.Gly1666=)
c.5205C>G (p.Gly1735=)
c.4506C>G (p.Gly1502=)
c.5253C>G (p.Gly1751=)
dbSNP
16g.3729788G=CA2202916532CREBBPc.5259C= (p.Gly1753=)
c.5145C= (p.Gly1715=)
c.5214C= (p.Gly1738=)
c.4842C= (p.Gly1614=)
c.4998C= (p.Gly1666=)
c.5205C= (p.Gly1735=)
c.4506C= (p.Gly1502=)
c.5253C= (p.Gly1751=)
16g.3729788G>TCA493394272CREBBPc.5259C>A (p.Gly1753=)
c.5145C>A (p.Gly1715=)
c.5214C>A (p.Gly1738=)
c.4842C>A (p.Gly1614=)
c.4998C>A (p.Gly1666=)
c.5205C>A (p.Gly1735=)
c.4506C>A (p.Gly1502=)
c.5253C>A (p.Gly1751=)
gnomAD v4
16g.3729789C>ACA394557462CREBBPc.5258G>T (p.Gly1753Val)
c.5144G>T (p.Gly1715Val)
c.5213G>T (p.Gly1738Val)
c.4841G>T (p.Gly1614Val)
c.4997G>T (p.Gly1666Val)
c.5204G>T (p.Gly1735Val)
c.4505G>T (p.Gly1502Val)
c.5252G>T (p.Gly1751Val)
16g.3729789C>GCA394557463CREBBPc.5258G>C (p.Gly1753Ala)
c.5144G>C (p.Gly1715Ala)
c.5213G>C (p.Gly1738Ala)
c.4841G>C (p.Gly1614Ala)
c.4997G>C (p.Gly1666Ala)
c.5204G>C (p.Gly1735Ala)
c.4505G>C (p.Gly1502Ala)
c.5252G>C (p.Gly1751Ala)
16g.3729789C>TCA394557460CREBBPc.5258G>A (p.Gly1753Asp)
c.5144G>A (p.Gly1715Asp)
c.5213G>A (p.Gly1738Asp)
c.4841G>A (p.Gly1614Asp)
c.4997G>A (p.Gly1666Asp)
c.5204G>A (p.Gly1735Asp)
c.4505G>A (p.Gly1502Asp)
c.5252G>A (p.Gly1751Asp)

Number of alleles fetched