Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.3728678_3728713dup | CA973904133 | CREBBP | c.6348_6383dup (p.Gln2128_Pro2129insProGlnProGlyLeuGlnSerGlnProGlyMetGln) c.6234_6269dup (p.Gln2090_Pro2091insProGlnProGlyLeuGlnSerGlnProGlyMetGln) c.6303_6338dup (p.Gln2113_Pro2114insProGlnProGlyLeuGlnSerGlnProGlyMetGln) c.5931_5966dup (p.Gln1989_Pro1990insProGlnProGlyLeuGlnSerGlnProGlyMetGln) c.6087_6122dup (p.Gln2041_Pro2042insProGlnProGlyLeuGlnSerGlnProGlyMetGln) c.6294_6329dup (p.Gln2110_Pro2111insProGlnProGlyLeuGlnSerGlnProGlyMetGln) c.5595_5630dup (p.Gln1877_Pro1878insProGlnProGlyLeuGlnSerGlnProGlyMetGln) c.6342_6377dup (p.Gln2126_Pro2127insProGlnProGlyLeuGlnSerGlnProGlyMetGln) | ClinVar dbSNP gnomAD v4 |
16 | g.3728678_3728713del | CA7869126 | CREBBP | c.6348_6383del (p.Pro2117_Gln2128del) c.6234_6269del (p.Pro2079_Gln2090del) c.6303_6338del (p.Pro2102_Gln2113del) c.5931_5966del (p.Pro1978_Gln1989del) c.6087_6122del (p.Pro2030_Gln2041del) c.6294_6329del (p.Pro2099_Gln2110del) c.5595_5630del (p.Pro1866_Gln1877del) c.6342_6377del (p.Pro2115_Gln2126del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.3728696_3728713dup | CA620714437 | CREBBP | c.6339_6356dup (p.Pro2119_Gly2120insGlyMetGlnProGlnPro) c.6225_6242dup (p.Pro2081_Gly2082insGlyMetGlnProGlnPro) c.6294_6311dup (p.Pro2104_Gly2105insGlyMetGlnProGlnPro) c.5922_5939dup (p.Pro1980_Gly1981insGlyMetGlnProGlnPro) c.6078_6095dup (p.Pro2032_Gly2033insGlyMetGlnProGlnPro) c.6285_6302dup (p.Pro2101_Gly2102insGlyMetGlnProGlnPro) c.5586_5603dup (p.Pro1868_Gly1869insGlyMetGlnProGlnPro) c.6333_6350dup (p.Pro2117_Gly2118insGlyMetGlnProGlnPro) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3728709G>A | CA394553605 | CREBBP | c.6338C>T (p.Pro2113Leu) c.6224C>T (p.Pro2075Leu) c.6293C>T (p.Pro2098Leu) c.5921C>T (p.Pro1974Leu) c.6077C>T (p.Pro2026Leu) c.6284C>T (p.Pro2095Leu) c.5585C>T (p.Pro1862Leu) c.6332C>T (p.Pro2111Leu) | dbSNP |
16 | g.3728709G>C | CA394553606 | CREBBP | c.6338C>G (p.Pro2113Arg) c.6224C>G (p.Pro2075Arg) c.6293C>G (p.Pro2098Arg) c.5921C>G (p.Pro1974Arg) c.6077C>G (p.Pro2026Arg) c.6284C>G (p.Pro2095Arg) c.5585C>G (p.Pro1862Arg) c.6332C>G (p.Pro2111Arg) | dbSNP |
16 | g.3728709G>T | CA394553607 | CREBBP | c.6338C>A (p.Pro2113His) c.6224C>A (p.Pro2075His) c.6293C>A (p.Pro2098His) c.5921C>A (p.Pro1974His) c.6077C>A (p.Pro2026His) c.6284C>A (p.Pro2095His) c.5585C>A (p.Pro1862His) c.6332C>A (p.Pro2111His) | dbSNP |
16 | g.3728710G>A | CA394553609 | CREBBP | c.6337C>T (p.Pro2113Ser) c.6223C>T (p.Pro2075Ser) c.6292C>T (p.Pro2098Ser) c.5920C>T (p.Pro1974Ser) c.6076C>T (p.Pro2026Ser) c.6283C>T (p.Pro2095Ser) c.5584C>T (p.Pro1862Ser) c.6331C>T (p.Pro2111Ser) | dbSNP |
16 | g.3728710G>C | CA394553608 | CREBBP | c.6337C>G (p.Pro2113Ala) c.6223C>G (p.Pro2075Ala) c.6292C>G (p.Pro2098Ala) c.5920C>G (p.Pro1974Ala) c.6076C>G (p.Pro2026Ala) c.6283C>G (p.Pro2095Ala) c.5584C>G (p.Pro1862Ala) c.6331C>G (p.Pro2111Ala) | dbSNP |
16 | g.3728710G= | CA2202928824 | CREBBP | c.6337C= (p.Pro2113=) c.6223C= (p.Pro2075=) c.6292C= (p.Pro2098=) c.5920C= (p.Pro1974=) c.6076C= (p.Pro2026=) c.6283C= (p.Pro2095=) c.5584C= (p.Pro1862=) c.6331C= (p.Pro2111=) | |
16 | g.3728710G>T | CA16620195 | CREBBP | c.6337C>A (p.Pro2113Thr) c.6223C>A (p.Pro2075Thr) c.6292C>A (p.Pro2098Thr) c.5920C>A (p.Pro1974Thr) c.6076C>A (p.Pro2026Thr) c.6283C>A (p.Pro2095Thr) c.5584C>A (p.Pro1862Thr) c.6331C>A (p.Pro2111Thr) | ClinVar dbSNP |
16 | g.3728711C>A | CA394553610 | CREBBP | c.6336G>T (p.Gln2112His) c.6222G>T (p.Gln2074His) c.6291G>T (p.Gln2097His) c.5919G>T (p.Gln1973His) c.6075G>T (p.Gln2025His) c.6282G>T (p.Gln2094His) c.5583G>T (p.Gln1861His) c.6330G>T (p.Gln2110His) | dbSNP |
16 | g.3728711C>G | CA394553611 | CREBBP | c.6336G>C (p.Gln2112His) c.6222G>C (p.Gln2074His) c.6291G>C (p.Gln2097His) c.5919G>C (p.Gln1973His) c.6075G>C (p.Gln2025His) c.6282G>C (p.Gln2094His) c.5583G>C (p.Gln1861His) c.6330G>C (p.Gln2110His) | dbSNP |
16 | g.3728711C>T | CA493393620 | CREBBP | c.6336G>A (p.Gln2112=) c.6222G>A (p.Gln2074=) c.6291G>A (p.Gln2097=) c.5919G>A (p.Gln1973=) c.6075G>A (p.Gln2025=) c.6282G>A (p.Gln2094=) c.5583G>A (p.Gln1861=) c.6330G>A (p.Gln2110=) | dbSNP |
16 | g.3728712T>A | CA394553612 | CREBBP | c.6335A>T (p.Gln2112Leu) c.6221A>T (p.Gln2074Leu) c.6290A>T (p.Gln2097Leu) c.5918A>T (p.Gln1973Leu) c.6074A>T (p.Gln2025Leu) c.6281A>T (p.Gln2094Leu) c.5582A>T (p.Gln1861Leu) c.6329A>T (p.Gln2110Leu) | dbSNP |
16 | g.3728712T>C | CA394553613 | CREBBP | c.6335A>G (p.Gln2112Arg) c.6221A>G (p.Gln2074Arg) c.6290A>G (p.Gln2097Arg) c.5918A>G (p.Gln1973Arg) c.6074A>G (p.Gln2025Arg) c.6281A>G (p.Gln2094Arg) c.5582A>G (p.Gln1861Arg) c.6329A>G (p.Gln2110Arg) | dbSNP |
16 | g.3728712T>G | CA394553614 | CREBBP | c.6335A>C (p.Gln2112Pro) c.6221A>C (p.Gln2074Pro) c.6290A>C (p.Gln2097Pro) c.5918A>C (p.Gln1973Pro) c.6074A>C (p.Gln2025Pro) c.6281A>C (p.Gln2094Pro) c.5582A>C (p.Gln1861Pro) c.6329A>C (p.Gln2110Pro) | dbSNP |
16 | g.3728713G>A | CA394553615 | CREBBP | c.6334C>T (p.Gln2112Ter) c.6220C>T (p.Gln2074Ter) c.6289C>T (p.Gln2097Ter) c.5917C>T (p.Gln1973Ter) c.6073C>T (p.Gln2025Ter) c.6280C>T (p.Gln2094Ter) c.5581C>T (p.Gln1861Ter) c.6328C>T (p.Gln2110Ter) | dbSNP |
16 | g.3728713G>C | CA394553616 | CREBBP | c.6334C>G (p.Gln2112Glu) c.6220C>G (p.Gln2074Glu) c.6289C>G (p.Gln2097Glu) c.5917C>G (p.Gln1973Glu) c.6073C>G (p.Gln2025Glu) c.6280C>G (p.Gln2094Glu) c.5581C>G (p.Gln1861Glu) c.6328C>G (p.Gln2110Glu) | dbSNP COSMIC |
16 | g.3728713G>T | CA394553617 | CREBBP | c.6334C>A (p.Gln2112Lys) c.6220C>A (p.Gln2074Lys) c.6289C>A (p.Gln2097Lys) c.5917C>A (p.Gln1973Lys) c.6073C>A (p.Gln2025Lys) c.6280C>A (p.Gln2094Lys) c.5581C>A (p.Gln1861Lys) c.6328C>A (p.Gln2110Lys) | dbSNP |
16 | g.3728714A= | CA2202928825 | CREBBP | c.6333T= (p.Asn2111=) c.6219T= (p.Asn2073=) c.6288T= (p.Asn2096=) c.5916T= (p.Asn1972=) c.6072T= (p.Asn2024=) c.6279T= (p.Asn2093=) c.5580T= (p.Asn1860=) c.6327T= (p.Asn2109=) | |
16 | g.3728714A>C | CA7869140 | CREBBP | c.6333T>G (p.Asn2111Lys) c.6219T>G (p.Asn2073Lys) c.6288T>G (p.Asn2096Lys) c.5916T>G (p.Asn1972Lys) c.6072T>G (p.Asn2024Lys) c.6279T>G (p.Asn2093Lys) c.5580T>G (p.Asn1860Lys) c.6327T>G (p.Asn2109Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.3728714A>G | CA493393621 | CREBBP | c.6333T>C (p.Asn2111=) c.6219T>C (p.Asn2073=) c.6288T>C (p.Asn2096=) c.5916T>C (p.Asn1972=) c.6072T>C (p.Asn2024=) c.6279T>C (p.Asn2093=) c.5580T>C (p.Asn1860=) c.6327T>C (p.Asn2109=) | dbSNP |
16 | g.3728714A>T | CA394553618 | CREBBP | c.6333T>A (p.Asn2111Lys) c.6219T>A (p.Asn2073Lys) c.6288T>A (p.Asn2096Lys) c.5916T>A (p.Asn1972Lys) c.6072T>A (p.Asn2024Lys) c.6279T>A (p.Asn2093Lys) c.5580T>A (p.Asn1860Lys) c.6327T>A (p.Asn2109Lys) | |
16 | g.3728715T>A | CA394553619 | CREBBP | c.6332A>T (p.Asn2111Ile) c.6218A>T (p.Asn2073Ile) c.6287A>T (p.Asn2096Ile) c.5915A>T (p.Asn1972Ile) c.6071A>T (p.Asn2024Ile) c.6278A>T (p.Asn2093Ile) c.5579A>T (p.Asn1860Ile) c.6326A>T (p.Asn2109Ile) | dbSNP |
16 | g.3728715T>C | CA7869141 | CREBBP | c.6332A>G (p.Asn2111Ser) c.6218A>G (p.Asn2073Ser) c.6287A>G (p.Asn2096Ser) c.5915A>G (p.Asn1972Ser) c.6071A>G (p.Asn2024Ser) c.6278A>G (p.Asn2093Ser) c.5579A>G (p.Asn1860Ser) c.6326A>G (p.Asn2109Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3728715T>G | CA394553620 | CREBBP | c.6332A>C (p.Asn2111Thr) c.6218A>C (p.Asn2073Thr) c.6287A>C (p.Asn2096Thr) c.5915A>C (p.Asn1972Thr) c.6071A>C (p.Asn2024Thr) c.6278A>C (p.Asn2093Thr) c.5579A>C (p.Asn1860Thr) c.6326A>C (p.Asn2109Thr) | dbSNP |
16 | g.3728715T= | CA2202928826 | CREBBP | c.6332A= (p.Asn2111=) c.6218A= (p.Asn2073=) c.6287A= (p.Asn2096=) c.5915A= (p.Asn1972=) c.6071A= (p.Asn2024=) c.6278A= (p.Asn2093=) c.5579A= (p.Asn1860=) c.6326A= (p.Asn2109=) | |
16 | g.3728716T>A | CA394553621 | CREBBP | c.6331A>T (p.Asn2111Tyr) c.6217A>T (p.Asn2073Tyr) c.6286A>T (p.Asn2096Tyr) c.5914A>T (p.Asn1972Tyr) c.6070A>T (p.Asn2024Tyr) c.6277A>T (p.Asn2093Tyr) c.5578A>T (p.Asn1860Tyr) c.6325A>T (p.Asn2109Tyr) | |
16 | g.3728716T>C | CA394553622 | CREBBP | c.6331A>G (p.Asn2111Asp) c.6217A>G (p.Asn2073Asp) c.6286A>G (p.Asn2096Asp) c.5914A>G (p.Asn1972Asp) c.6070A>G (p.Asn2024Asp) c.6277A>G (p.Asn2093Asp) c.5578A>G (p.Asn1860Asp) c.6325A>G (p.Asn2109Asp) | |
16 | g.3728716T>G | CA7869142 | CREBBP | c.6331A>C (p.Asn2111His) c.6217A>C (p.Asn2073His) c.6286A>C (p.Asn2096His) c.5914A>C (p.Asn1972His) c.6070A>C (p.Asn2024His) c.6277A>C (p.Asn2093His) c.5578A>C (p.Asn1860His) c.6325A>C (p.Asn2109His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.3728716T= | CA2202928827 | CREBBP | c.6331A= (p.Asn2111=) c.6217A= (p.Asn2073=) c.6286A= (p.Asn2096=) c.5914A= (p.Asn1972=) c.6070A= (p.Asn2024=) c.6277A= (p.Asn2093=) c.5578A= (p.Asn1860=) c.6325A= (p.Asn2109=) | |
16 | g.3728716_3728717insCCTCT | CA1139655045 | CREBBP | c.6331_6332insGAGGA (p.Asn2111ArgfsTer?) c.6217_6218insGAGGA (p.Asn2073ArgfsTer?) c.6286_6287insGAGGA (p.Asn2096ArgfsTer?) c.5914_5915insGAGGA (p.Asn1972ArgfsTer?) c.6070_6071insGAGGA (p.Asn2024ArgfsTer?) c.6277_6278insGAGGA (p.Asn2093ArgfsTer?) c.5578_5579insGAGGA (p.Asn1860ArgfsTer?) c.6325_6326insGAGGA (p.Asn2109ArgfsTer?) | |
16 | g.3728717G>A | CA493393623 | CREBBP | c.6330C>T (p.Ala2110=) c.6216C>T (p.Ala2072=) c.6285C>T (p.Ala2095=) c.5913C>T (p.Ala1971=) c.6069C>T (p.Ala2023=) c.6276C>T (p.Ala2092=) c.5577C>T (p.Ala1859=) c.6324C>T (p.Ala2108=) | dbSNP gnomAD v4 |
16 | g.3728717G>C | CA493393622 | CREBBP | c.6330C>G (p.Ala2110=) c.6216C>G (p.Ala2072=) c.6285C>G (p.Ala2095=) c.5913C>G (p.Ala1971=) c.6069C>G (p.Ala2023=) c.6276C>G (p.Ala2092=) c.5577C>G (p.Ala1859=) c.6324C>G (p.Ala2108=) | dbSNP |
16 | g.3728717G>T | CA493393624 | CREBBP | c.6330C>A (p.Ala2110=) c.6216C>A (p.Ala2072=) c.6285C>A (p.Ala2095=) c.5913C>A (p.Ala1971=) c.6069C>A (p.Ala2023=) c.6276C>A (p.Ala2092=) c.5577C>A (p.Ala1859=) c.6324C>A (p.Ala2108=) | dbSNP |
16 | g.3728718G>A | CA394553623 | CREBBP | c.6329C>T (p.Ala2110Val) c.6215C>T (p.Ala2072Val) c.6284C>T (p.Ala2095Val) c.5912C>T (p.Ala1971Val) c.6068C>T (p.Ala2023Val) c.6275C>T (p.Ala2092Val) c.5576C>T (p.Ala1859Val) c.6323C>T (p.Ala2108Val) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.3728718G>C | CA394553624 | CREBBP | c.6329C>G (p.Ala2110Gly) c.6215C>G (p.Ala2072Gly) c.6284C>G (p.Ala2095Gly) c.5912C>G (p.Ala1971Gly) c.6068C>G (p.Ala2023Gly) c.6275C>G (p.Ala2092Gly) c.5576C>G (p.Ala1859Gly) c.6323C>G (p.Ala2108Gly) | ClinVar dbSNP |
16 | g.3728718G= | CA2202928828 | CREBBP | c.6329C= (p.Ala2110=) c.6215C= (p.Ala2072=) c.6284C= (p.Ala2095=) c.5912C= (p.Ala1971=) c.6068C= (p.Ala2023=) c.6275C= (p.Ala2092=) c.5576C= (p.Ala1859=) c.6323C= (p.Ala2108=) | |
16 | g.3728718G>T | CA394553625 | CREBBP | c.6329C>A (p.Ala2110Asp) c.6215C>A (p.Ala2072Asp) c.6284C>A (p.Ala2095Asp) c.5912C>A (p.Ala1971Asp) c.6068C>A (p.Ala2023Asp) c.6275C>A (p.Ala2092Asp) c.5576C>A (p.Ala1859Asp) c.6323C>A (p.Ala2108Asp) | ClinVar dbSNP |
16 | g.3728719C>A | CA394553626 | CREBBP | c.6328G>T (p.Ala2110Ser) c.6214G>T (p.Ala2072Ser) c.6283G>T (p.Ala2095Ser) c.5911G>T (p.Ala1971Ser) c.6067G>T (p.Ala2023Ser) c.6274G>T (p.Ala2092Ser) c.5575G>T (p.Ala1859Ser) c.6322G>T (p.Ala2108Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3728719C= | CA2202928829 | CREBBP | c.6328G= (p.Ala2110=) c.6214G= (p.Ala2072=) c.6283G= (p.Ala2095=) c.5911G= (p.Ala1971=) c.6067G= (p.Ala2023=) c.6274G= (p.Ala2092=) c.5575G= (p.Ala1859=) c.6322G= (p.Ala2108=) | |
16 | g.3728719C>G | CA394553627 | CREBBP | c.6328G>C (p.Ala2110Pro) c.6214G>C (p.Ala2072Pro) c.6283G>C (p.Ala2095Pro) c.5911G>C (p.Ala1971Pro) c.6067G>C (p.Ala2023Pro) c.6274G>C (p.Ala2092Pro) c.5575G>C (p.Ala1859Pro) c.6322G>C (p.Ala2108Pro) | dbSNP |
16 | g.3728719C>T | CA394553628 | CREBBP | c.6328G>A (p.Ala2110Thr) c.6214G>A (p.Ala2072Thr) c.6283G>A (p.Ala2095Thr) c.5911G>A (p.Ala1971Thr) c.6067G>A (p.Ala2023Thr) c.6274G>A (p.Ala2092Thr) c.5575G>A (p.Ala1859Thr) c.6322G>A (p.Ala2108Thr) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.3728720C>A | CA493393625 | CREBBP | c.6327G>T (p.Val2109=) c.6213G>T (p.Val2071=) c.6282G>T (p.Val2094=) c.5910G>T (p.Val1970=) c.6066G>T (p.Val2022=) c.6273G>T (p.Val2091=) c.5574G>T (p.Val1858=) c.6321G>T (p.Val2107=) | |
16 | g.3728720C= | CA2202928830 | CREBBP | c.6327G= (p.Val2109=) c.6213G= (p.Val2071=) c.6282G= (p.Val2094=) c.5910G= (p.Val1970=) c.6066G= (p.Val2022=) c.6273G= (p.Val2091=) c.5574G= (p.Val1858=) c.6321G= (p.Val2107=) | |
16 | g.3728720C>G | CA493393626 | CREBBP | c.6327G>C (p.Val2109=) c.6213G>C (p.Val2071=) c.6282G>C (p.Val2094=) c.5910G>C (p.Val1970=) c.6066G>C (p.Val2022=) c.6273G>C (p.Val2091=) c.5574G>C (p.Val1858=) c.6321G>C (p.Val2107=) | ClinVar gnomAD v4 |
16 | g.3728720C>T | CA493393627 | CREBBP | c.6327G>A (p.Val2109=) c.6213G>A (p.Val2071=) c.6282G>A (p.Val2094=) c.5910G>A (p.Val1970=) c.6066G>A (p.Val2022=) c.6273G>A (p.Val2091=) c.5574G>A (p.Val1858=) c.6321G>A (p.Val2107=) | dbSNP gnomAD v4 |
16 | g.3728721A>C | CA394553629 | CREBBP | c.6326T>G (p.Val2109Gly) c.6212T>G (p.Val2071Gly) c.6281T>G (p.Val2094Gly) c.5909T>G (p.Val1970Gly) c.6065T>G (p.Val2022Gly) c.6272T>G (p.Val2091Gly) c.5573T>G (p.Val1858Gly) c.6320T>G (p.Val2107Gly) | dbSNP |
16 | g.3728721A>G | CA394553630 | CREBBP | c.6326T>C (p.Val2109Ala) c.6212T>C (p.Val2071Ala) c.6281T>C (p.Val2094Ala) c.5909T>C (p.Val1970Ala) c.6065T>C (p.Val2022Ala) c.6272T>C (p.Val2091Ala) c.5573T>C (p.Val1858Ala) c.6320T>C (p.Val2107Ala) | dbSNP |
16 | g.3728721A>T | CA394553631 | CREBBP | c.6326T>A (p.Val2109Glu) c.6212T>A (p.Val2071Glu) c.6281T>A (p.Val2094Glu) c.5909T>A (p.Val1970Glu) c.6065T>A (p.Val2022Glu) c.6272T>A (p.Val2091Glu) c.5573T>A (p.Val1858Glu) c.6320T>A (p.Val2107Glu) | dbSNP |
16 | g.3728722C>A | CA394553632 | CREBBP | c.6325G>T (p.Val2109Leu) c.6211G>T (p.Val2071Leu) c.6280G>T (p.Val2094Leu) c.5908G>T (p.Val1970Leu) c.6064G>T (p.Val2022Leu) c.6271G>T (p.Val2091Leu) c.5572G>T (p.Val1858Leu) c.6319G>T (p.Val2107Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3728722C= | CA2202928831 | CREBBP | c.6325G= (p.Val2109=) c.6211G= (p.Val2071=) c.6280G= (p.Val2094=) c.5908G= (p.Val1970=) c.6064G= (p.Val2022=) c.6271G= (p.Val2091=) c.5572G= (p.Val1858=) c.6319G= (p.Val2107=) | |
16 | g.3728722C>G | CA394553633 | CREBBP | c.6325G>C (p.Val2109Leu) c.6211G>C (p.Val2071Leu) c.6280G>C (p.Val2094Leu) c.5908G>C (p.Val1970Leu) c.6064G>C (p.Val2022Leu) c.6271G>C (p.Val2091Leu) c.5572G>C (p.Val1858Leu) c.6319G>C (p.Val2107Leu) | dbSNP gnomAD v4 |
16 | g.3728722C>T | CA394553634 | CREBBP | c.6325G>A (p.Val2109Met) c.6211G>A (p.Val2071Met) c.6280G>A (p.Val2094Met) c.5908G>A (p.Val1970Met) c.6064G>A (p.Val2022Met) c.6271G>A (p.Val2091Met) c.5572G>A (p.Val1858Met) c.6319G>A (p.Val2107Met) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
16 | g.3728723G>A | CA7869143 | CREBBP | c.6324C>T (p.Tyr2108=) c.6210C>T (p.Tyr2070=) c.6279C>T (p.Tyr2093=) c.5907C>T (p.Tyr1969=) c.6063C>T (p.Tyr2021=) c.6270C>T (p.Tyr2090=) c.5571C>T (p.Tyr1857=) c.6318C>T (p.Tyr2106=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3728723G>C | CA394553635 | CREBBP | c.6324C>G (p.Tyr2108Ter) c.6210C>G (p.Tyr2070Ter) c.6279C>G (p.Tyr2093Ter) c.5907C>G (p.Tyr1969Ter) c.6063C>G (p.Tyr2021Ter) c.6270C>G (p.Tyr2090Ter) c.5571C>G (p.Tyr1857Ter) c.6318C>G (p.Tyr2106Ter) | ClinVar dbSNP |
16 | g.3728723G= | CA2202928832 | CREBBP | c.6324C= (p.Tyr2108=) c.6210C= (p.Tyr2070=) c.6279C= (p.Tyr2093=) c.5907C= (p.Tyr1969=) c.6063C= (p.Tyr2021=) c.6270C= (p.Tyr2090=) c.5571C= (p.Tyr1857=) c.6318C= (p.Tyr2106=) | |
16 | g.3728723G>T | CA394553636 | CREBBP | c.6324C>A (p.Tyr2108Ter) c.6210C>A (p.Tyr2070Ter) c.6279C>A (p.Tyr2093Ter) c.5907C>A (p.Tyr1969Ter) c.6063C>A (p.Tyr2021Ter) c.6270C>A (p.Tyr2090Ter) c.5571C>A (p.Tyr1857Ter) c.6318C>A (p.Tyr2106Ter) | ClinVar dbSNP |
16 | g.3728724_3728730del | CA891842206 | CREBBP | c.6318_6324del (p.Lys2107TrpfsTer?) c.6204_6210del (p.Lys2069TrpfsTer?) c.6273_6279del (p.Lys2092TrpfsTer?) c.5901_5907del (p.Lys1968TrpfsTer?) c.6057_6063del (p.Lys2020TrpfsTer?) c.6264_6270del (p.Lys2089TrpfsTer?) c.5565_5571del (p.Lys1856TrpfsTer?) c.6312_6318del (p.Lys2105TrpfsTer?) | |
16 | g.3728724T>A | CA394553637 | CREBBP | c.6323A>T (p.Tyr2108Phe) c.6209A>T (p.Tyr2070Phe) c.6278A>T (p.Tyr2093Phe) c.5906A>T (p.Tyr1969Phe) c.6062A>T (p.Tyr2021Phe) c.6269A>T (p.Tyr2090Phe) c.5570A>T (p.Tyr1857Phe) c.6317A>T (p.Tyr2106Phe) | dbSNP gnomAD v4 |
16 | g.3728724T>C | CA394553638 | CREBBP | c.6323A>G (p.Tyr2108Cys) c.6209A>G (p.Tyr2070Cys) c.6278A>G (p.Tyr2093Cys) c.5906A>G (p.Tyr1969Cys) c.6062A>G (p.Tyr2021Cys) c.6269A>G (p.Tyr2090Cys) c.5570A>G (p.Tyr1857Cys) c.6317A>G (p.Tyr2106Cys) | dbSNP |
16 | g.3728724T>G | CA394553639 | CREBBP | c.6323A>C (p.Tyr2108Ser) c.6209A>C (p.Tyr2070Ser) c.6278A>C (p.Tyr2093Ser) c.5906A>C (p.Tyr1969Ser) c.6062A>C (p.Tyr2021Ser) c.6269A>C (p.Tyr2090Ser) c.5570A>C (p.Tyr1857Ser) c.6317A>C (p.Tyr2106Ser) | dbSNP |
16 | g.3728725A>C | CA394553640 | CREBBP | c.6322T>G (p.Tyr2108Asp) c.6208T>G (p.Tyr2070Asp) c.6277T>G (p.Tyr2093Asp) c.5905T>G (p.Tyr1969Asp) c.6061T>G (p.Tyr2021Asp) c.6268T>G (p.Tyr2090Asp) c.5569T>G (p.Tyr1857Asp) c.6316T>G (p.Tyr2106Asp) | dbSNP |
16 | g.3728725A>G | CA394553641 | CREBBP | c.6322T>C (p.Tyr2108His) c.6208T>C (p.Tyr2070His) c.6277T>C (p.Tyr2093His) c.5905T>C (p.Tyr1969His) c.6061T>C (p.Tyr2021His) c.6268T>C (p.Tyr2090His) c.5569T>C (p.Tyr1857His) c.6316T>C (p.Tyr2106His) | dbSNP |
16 | g.3728725A>T | CA394553642 | CREBBP | c.6322T>A (p.Tyr2108Asn) c.6208T>A (p.Tyr2070Asn) c.6277T>A (p.Tyr2093Asn) c.5905T>A (p.Tyr1969Asn) c.6061T>A (p.Tyr2021Asn) c.6268T>A (p.Tyr2090Asn) c.5569T>A (p.Tyr1857Asn) c.6316T>A (p.Tyr2106Asn) | dbSNP |
16 | g.3728726C>A | CA394553643 | CREBBP | c.6321G>T (p.Lys2107Asn) c.6207G>T (p.Lys2069Asn) c.6276G>T (p.Lys2092Asn) c.5904G>T (p.Lys1968Asn) c.6060G>T (p.Lys2020Asn) c.6267G>T (p.Lys2089Asn) c.5568G>T (p.Lys1856Asn) c.6315G>T (p.Lys2105Asn) | |
16 | g.3728726C>G | CA394553644 | CREBBP | c.6321G>C (p.Lys2107Asn) c.6207G>C (p.Lys2069Asn) c.6276G>C (p.Lys2092Asn) c.5904G>C (p.Lys1968Asn) c.6060G>C (p.Lys2020Asn) c.6267G>C (p.Lys2089Asn) c.5568G>C (p.Lys1856Asn) c.6315G>C (p.Lys2105Asn) | dbSNP |
16 | g.3728726C>T | CA493393628 | CREBBP | c.6321G>A (p.Lys2107=) c.6207G>A (p.Lys2069=) c.6276G>A (p.Lys2092=) c.5904G>A (p.Lys1968=) c.6060G>A (p.Lys2020=) c.6267G>A (p.Lys2089=) c.5568G>A (p.Lys1856=) c.6315G>A (p.Lys2105=) | dbSNP |
16 | g.3728727T>A | CA394553645 | CREBBP | c.6320A>T (p.Lys2107Met) c.6206A>T (p.Lys2069Met) c.6275A>T (p.Lys2092Met) c.5903A>T (p.Lys1968Met) c.6059A>T (p.Lys2020Met) c.6266A>T (p.Lys2089Met) c.5567A>T (p.Lys1856Met) c.6314A>T (p.Lys2105Met) | dbSNP |
16 | g.3728727T>C | CA394553646 | CREBBP | c.6320A>G (p.Lys2107Arg) c.6206A>G (p.Lys2069Arg) c.6275A>G (p.Lys2092Arg) c.5903A>G (p.Lys1968Arg) c.6059A>G (p.Lys2020Arg) c.6266A>G (p.Lys2089Arg) c.5567A>G (p.Lys1856Arg) c.6314A>G (p.Lys2105Arg) | |
16 | g.3728727T>G | CA394553647 | CREBBP | c.6320A>C (p.Lys2107Thr) c.6206A>C (p.Lys2069Thr) c.6275A>C (p.Lys2092Thr) c.5903A>C (p.Lys1968Thr) c.6059A>C (p.Lys2020Thr) c.6266A>C (p.Lys2089Thr) c.5567A>C (p.Lys1856Thr) c.6314A>C (p.Lys2105Thr) | |
16 | g.3728728T>A | CA394553650 | CREBBP | c.6319A>T (p.Lys2107Ter) c.6205A>T (p.Lys2069Ter) c.6274A>T (p.Lys2092Ter) c.5902A>T (p.Lys1968Ter) c.6058A>T (p.Lys2020Ter) c.6265A>T (p.Lys2089Ter) c.5566A>T (p.Lys1856Ter) c.6313A>T (p.Lys2105Ter) | |
16 | g.3728728T>C | CA394553649 | CREBBP | c.6319A>G (p.Lys2107Glu) c.6205A>G (p.Lys2069Glu) c.6274A>G (p.Lys2092Glu) c.5902A>G (p.Lys1968Glu) c.6058A>G (p.Lys2020Glu) c.6265A>G (p.Lys2089Glu) c.5566A>G (p.Lys1856Glu) c.6313A>G (p.Lys2105Glu) | |
16 | g.3728728T>G | CA394553648 | CREBBP | c.6319A>C (p.Lys2107Gln) c.6205A>C (p.Lys2069Gln) c.6274A>C (p.Lys2092Gln) c.5902A>C (p.Lys1968Gln) c.6058A>C (p.Lys2020Gln) c.6265A>C (p.Lys2089Gln) c.5566A>C (p.Lys1856Gln) c.6313A>C (p.Lys2105Gln) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.3728728T= | CA2202928833 | CREBBP | c.6319A= (p.Lys2107=) c.6205A= (p.Lys2069=) c.6274A= (p.Lys2092=) c.5902A= (p.Lys1968=) c.6058A= (p.Lys2020=) c.6265A= (p.Lys2089=) c.5566A= (p.Lys1856=) c.6313A= (p.Lys2105=) | |
16 | g.3728729G>A | CA493393629 | CREBBP | c.6318C>T (p.Ala2106=) c.6204C>T (p.Ala2068=) c.6273C>T (p.Ala2091=) c.5901C>T (p.Ala1967=) c.6057C>T (p.Ala2019=) c.6264C>T (p.Ala2088=) c.5565C>T (p.Ala1855=) c.6312C>T (p.Ala2104=) | dbSNP |
16 | g.3728729G>C | CA493393630 | CREBBP | c.6318C>G (p.Ala2106=) c.6204C>G (p.Ala2068=) c.6273C>G (p.Ala2091=) c.5901C>G (p.Ala1967=) c.6057C>G (p.Ala2019=) c.6264C>G (p.Ala2088=) c.5565C>G (p.Ala1855=) c.6312C>G (p.Ala2104=) | dbSNP |
16 | g.3728729G>T | CA493393631 | CREBBP | c.6318C>A (p.Ala2106=) c.6204C>A (p.Ala2068=) c.6273C>A (p.Ala2091=) c.5901C>A (p.Ala1967=) c.6057C>A (p.Ala2019=) c.6264C>A (p.Ala2088=) c.5565C>A (p.Ala1855=) c.6312C>A (p.Ala2104=) | dbSNP |
16 | g.3728730G>A | CA394553651 | CREBBP | c.6317C>T (p.Ala2106Val) c.6203C>T (p.Ala2068Val) c.6272C>T (p.Ala2091Val) c.5900C>T (p.Ala1967Val) c.6056C>T (p.Ala2019Val) c.6263C>T (p.Ala2088Val) c.5564C>T (p.Ala1855Val) c.6311C>T (p.Ala2104Val) | dbSNP |
16 | g.3728730G>C | CA394553653 | CREBBP | c.6317C>G (p.Ala2106Gly) c.6203C>G (p.Ala2068Gly) c.6272C>G (p.Ala2091Gly) c.5900C>G (p.Ala1967Gly) c.6056C>G (p.Ala2019Gly) c.6263C>G (p.Ala2088Gly) c.5564C>G (p.Ala1855Gly) c.6311C>G (p.Ala2104Gly) | dbSNP |
16 | g.3728730G>T | CA394553652 | CREBBP | c.6317C>A (p.Ala2106Asp) c.6203C>A (p.Ala2068Asp) c.6272C>A (p.Ala2091Asp) c.5900C>A (p.Ala1967Asp) c.6056C>A (p.Ala2019Asp) c.6263C>A (p.Ala2088Asp) c.5564C>A (p.Ala1855Asp) c.6311C>A (p.Ala2104Asp) | dbSNP |
16 | g.3728731C>A | CA394553654 | CREBBP | c.6316G>T (p.Ala2106Ser) c.6202G>T (p.Ala2068Ser) c.6271G>T (p.Ala2091Ser) c.5899G>T (p.Ala1967Ser) c.6055G>T (p.Ala2019Ser) c.6262G>T (p.Ala2088Ser) c.5563G>T (p.Ala1855Ser) c.6310G>T (p.Ala2104Ser) | |
16 | g.3728731C>G | CA394553655 | CREBBP | c.6316G>C (p.Ala2106Pro) c.6202G>C (p.Ala2068Pro) c.6271G>C (p.Ala2091Pro) c.5899G>C (p.Ala1967Pro) c.6055G>C (p.Ala2019Pro) c.6262G>C (p.Ala2088Pro) c.5563G>C (p.Ala1855Pro) c.6310G>C (p.Ala2104Pro) | |
16 | g.3728731C>T | CA394553656 | CREBBP | c.6316G>A (p.Ala2106Thr) c.6202G>A (p.Ala2068Thr) c.6271G>A (p.Ala2091Thr) c.5899G>A (p.Ala1967Thr) c.6055G>A (p.Ala2019Thr) c.6262G>A (p.Ala2088Thr) c.5563G>A (p.Ala1855Thr) c.6310G>A (p.Ala2104Thr) | |
16 | g.3728732del | CA2840860803 | CREBBP | c.6315del (p.Ala2106ProfsTer?) c.6201del (p.Ala2068ProfsTer?) c.6270del (p.Ala2091ProfsTer?) c.5898del (p.Ala1967ProfsTer?) c.6054del (p.Ala2019ProfsTer?) c.6261del (p.Ala2088ProfsTer?) c.5562del (p.Ala1855ProfsTer?) c.6309del (p.Ala2104ProfsTer?) | |
16 | g.3728732T>A | CA493393632 | CREBBP | c.6315A>T (p.Thr2105=) c.6201A>T (p.Thr2067=) c.6270A>T (p.Thr2090=) c.5898A>T (p.Thr1966=) c.6054A>T (p.Thr2018=) c.6261A>T (p.Thr2087=) c.5562A>T (p.Thr1854=) c.6309A>T (p.Thr2103=) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.3728732T>C | CA493393633 | CREBBP | c.6315A>G (p.Thr2105=) c.6201A>G (p.Thr2067=) c.6270A>G (p.Thr2090=) c.5898A>G (p.Thr1966=) c.6054A>G (p.Thr2018=) c.6261A>G (p.Thr2087=) c.5562A>G (p.Thr1854=) c.6309A>G (p.Thr2103=) | ClinVar dbSNP gnomAD v4 |
16 | g.3728732T>G | CA493393634 | CREBBP | c.6315A>C (p.Thr2105=) c.6201A>C (p.Thr2067=) c.6270A>C (p.Thr2090=) c.5898A>C (p.Thr1966=) c.6054A>C (p.Thr2018=) c.6261A>C (p.Thr2087=) c.5562A>C (p.Thr1854=) c.6309A>C (p.Thr2103=) | gnomAD v4 |
16 | g.3728732T= | CA2202928834 | CREBBP | c.6315A= (p.Thr2105=) c.6201A= (p.Thr2067=) c.6270A= (p.Thr2090=) c.5898A= (p.Thr1966=) c.6054A= (p.Thr2018=) c.6261A= (p.Thr2087=) c.5562A= (p.Thr1854=) c.6309A= (p.Thr2103=) | |
16 | g.3728733G>A | CA394553657 | CREBBP | c.6314C>T (p.Thr2105Ile) c.6200C>T (p.Thr2067Ile) c.6269C>T (p.Thr2090Ile) c.5897C>T (p.Thr1966Ile) c.6053C>T (p.Thr2018Ile) c.6260C>T (p.Thr2087Ile) c.5561C>T (p.Thr1854Ile) c.6308C>T (p.Thr2103Ile) | dbSNP |
16 | g.3728733G>C | CA394553658 | CREBBP | c.6314C>G (p.Thr2105Arg) c.6200C>G (p.Thr2067Arg) c.6269C>G (p.Thr2090Arg) c.5897C>G (p.Thr1966Arg) c.6053C>G (p.Thr2018Arg) c.6260C>G (p.Thr2087Arg) c.5561C>G (p.Thr1854Arg) c.6308C>G (p.Thr2103Arg) | dbSNP |
16 | g.3728733G>T | CA394553659 | CREBBP | c.6314C>A (p.Thr2105Lys) c.6200C>A (p.Thr2067Lys) c.6269C>A (p.Thr2090Lys) c.5897C>A (p.Thr1966Lys) c.6053C>A (p.Thr2018Lys) c.6260C>A (p.Thr2087Lys) c.5561C>A (p.Thr1854Lys) c.6308C>A (p.Thr2103Lys) | |
16 | g.3728734T>A | CA394553660 | CREBBP | c.6313A>T (p.Thr2105Ser) c.6199A>T (p.Thr2067Ser) c.6268A>T (p.Thr2090Ser) c.5896A>T (p.Thr1966Ser) c.6052A>T (p.Thr2018Ser) c.6259A>T (p.Thr2087Ser) c.5560A>T (p.Thr1854Ser) c.6307A>T (p.Thr2103Ser) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.3728734T>C | CA7869144 | CREBBP | c.6313A>G (p.Thr2105Ala) c.6199A>G (p.Thr2067Ala) c.6268A>G (p.Thr2090Ala) c.5896A>G (p.Thr1966Ala) c.6052A>G (p.Thr2018Ala) c.6259A>G (p.Thr2087Ala) c.5560A>G (p.Thr1854Ala) c.6307A>G (p.Thr2103Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.3728734T>G | CA394553661 | CREBBP | c.6313A>C (p.Thr2105Pro) c.6199A>C (p.Thr2067Pro) c.6268A>C (p.Thr2090Pro) c.5896A>C (p.Thr1966Pro) c.6052A>C (p.Thr2018Pro) c.6259A>C (p.Thr2087Pro) c.5560A>C (p.Thr1854Pro) c.6307A>C (p.Thr2103Pro) | ClinVar dbSNP |
16 | g.3728734T= | CA2202928835 | CREBBP | c.6313A= (p.Thr2105=) c.6199A= (p.Thr2067=) c.6268A= (p.Thr2090=) c.5896A= (p.Thr1966=) c.6052A= (p.Thr2018=) c.6259A= (p.Thr2087=) c.5560A= (p.Thr1854=) c.6307A= (p.Thr2103=) | |
16 | g.3728735G>A | CA493393635 | CREBBP | c.6312C>T (p.Arg2104=) c.6198C>T (p.Arg2066=) c.6267C>T (p.Arg2089=) c.5895C>T (p.Arg1965=) c.6051C>T (p.Arg2017=) c.6258C>T (p.Arg2086=) c.5559C>T (p.Arg1853=) c.6306C>T (p.Arg2102=) | dbSNP |
16 | g.3728735G>C | CA493393636 | CREBBP | c.6312C>G (p.Arg2104=) c.6198C>G (p.Arg2066=) c.6267C>G (p.Arg2089=) c.5895C>G (p.Arg1965=) c.6051C>G (p.Arg2017=) c.6258C>G (p.Arg2086=) c.5559C>G (p.Arg1853=) c.6306C>G (p.Arg2102=) | dbSNP gnomAD v4 |
16 | g.3728735G>T | CA493393637 | CREBBP | c.6312C>A (p.Arg2104=) c.6198C>A (p.Arg2066=) c.6267C>A (p.Arg2089=) c.5895C>A (p.Arg1965=) c.6051C>A (p.Arg2017=) c.6258C>A (p.Arg2086=) c.5559C>A (p.Arg1853=) c.6306C>A (p.Arg2102=) | |
16 | g.3728736C>A | CA394553662 | CREBBP | c.6311G>T (p.Arg2104Leu) c.6197G>T (p.Arg2066Leu) c.6266G>T (p.Arg2089Leu) c.5894G>T (p.Arg1965Leu) c.6050G>T (p.Arg2017Leu) c.6257G>T (p.Arg2086Leu) c.5558G>T (p.Arg1853Leu) c.6305G>T (p.Arg2102Leu) | dbSNP |
16 | g.3728736C>G | CA394553663 | CREBBP | c.6311G>C (p.Arg2104Pro) c.6197G>C (p.Arg2066Pro) c.6266G>C (p.Arg2089Pro) c.5894G>C (p.Arg1965Pro) c.6050G>C (p.Arg2017Pro) c.6257G>C (p.Arg2086Pro) c.5558G>C (p.Arg1853Pro) c.6305G>C (p.Arg2102Pro) | dbSNP gnomAD v4 COSMIC |
16 | g.3728736C>T | CA394553664 | CREBBP | c.6311G>A (p.Arg2104His) c.6197G>A (p.Arg2066His) c.6266G>A (p.Arg2089His) c.5894G>A (p.Arg1965His) c.6050G>A (p.Arg2017His) c.6257G>A (p.Arg2086His) c.5558G>A (p.Arg1853His) c.6305G>A (p.Arg2102His) | dbSNP gnomAD v4 |
16 | g.3728737G>A | CA394553667 | CREBBP | c.6310C>T (p.Arg2104Cys) c.6196C>T (p.Arg2066Cys) c.6265C>T (p.Arg2089Cys) c.5893C>T (p.Arg1965Cys) c.6049C>T (p.Arg2017Cys) c.6256C>T (p.Arg2086Cys) c.5557C>T (p.Arg1853Cys) c.6304C>T (p.Arg2102Cys) | ClinVar dbSNP COSMIC |
16 | g.3728737G>C | CA394553665 | CREBBP | c.6310C>G (p.Arg2104Gly) c.6196C>G (p.Arg2066Gly) c.6265C>G (p.Arg2089Gly) c.5893C>G (p.Arg1965Gly) c.6049C>G (p.Arg2017Gly) c.6256C>G (p.Arg2086Gly) c.5557C>G (p.Arg1853Gly) c.6304C>G (p.Arg2102Gly) | dbSNP gnomAD v4 |
16 | g.3728737G= | CA2202928836 | CREBBP | c.6310C= (p.Arg2104=) c.6196C= (p.Arg2066=) c.6265C= (p.Arg2089=) c.5893C= (p.Arg1965=) c.6049C= (p.Arg2017=) c.6256C= (p.Arg2086=) c.5557C= (p.Arg1853=) c.6304C= (p.Arg2102=) | |
16 | g.3728737G>T | CA394553666 | CREBBP | c.6310C>A (p.Arg2104Ser) c.6196C>A (p.Arg2066Ser) c.6265C>A (p.Arg2089Ser) c.5893C>A (p.Arg1965Ser) c.6049C>A (p.Arg2017Ser) c.6256C>A (p.Arg2086Ser) c.5557C>A (p.Arg1853Ser) c.6304C>A (p.Arg2102Ser) | dbSNP |
16 | g.3728738C>A | CA394553668 | CREBBP | c.6309G>T (p.Gln2103His) c.6195G>T (p.Gln2065His) c.6264G>T (p.Gln2088His) c.5892G>T (p.Gln1964His) c.6048G>T (p.Gln2016His) c.6255G>T (p.Gln2085His) c.5556G>T (p.Gln1852His) c.6303G>T (p.Gln2101His) | dbSNP |
16 | g.3728738C= | CA2202928837 | CREBBP | c.6309G= (p.Gln2103=) c.6195G= (p.Gln2065=) c.6264G= (p.Gln2088=) c.5892G= (p.Gln1964=) c.6048G= (p.Gln2016=) c.6255G= (p.Gln2085=) c.5556G= (p.Gln1852=) c.6303G= (p.Gln2101=) | |
16 | g.3728738C>G | CA394553669 | CREBBP | c.6309G>C (p.Gln2103His) c.6195G>C (p.Gln2065His) c.6264G>C (p.Gln2088His) c.5892G>C (p.Gln1964His) c.6048G>C (p.Gln2016His) c.6255G>C (p.Gln2085His) c.5556G>C (p.Gln1852His) c.6303G>C (p.Gln2101His) | dbSNP |
16 | g.3728738C>T | CA7869145 | CREBBP | c.6309G>A (p.Gln2103=) c.6195G>A (p.Gln2065=) c.6264G>A (p.Gln2088=) c.5892G>A (p.Gln1964=) c.6048G>A (p.Gln2016=) c.6255G>A (p.Gln2085=) c.5556G>A (p.Gln1852=) c.6303G>A (p.Gln2101=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.3728739T>A | CA394553670 | CREBBP | c.6308A>T (p.Gln2103Leu) c.6194A>T (p.Gln2065Leu) c.6263A>T (p.Gln2088Leu) c.5891A>T (p.Gln1964Leu) c.6047A>T (p.Gln2016Leu) c.6254A>T (p.Gln2085Leu) c.5555A>T (p.Gln1852Leu) c.6302A>T (p.Gln2101Leu) | dbSNP |
16 | g.3728739T>C | CA394553671 | CREBBP | c.6308A>G (p.Gln2103Arg) c.6194A>G (p.Gln2065Arg) c.6263A>G (p.Gln2088Arg) c.5891A>G (p.Gln1964Arg) c.6047A>G (p.Gln2016Arg) c.6254A>G (p.Gln2085Arg) c.5555A>G (p.Gln1852Arg) c.6302A>G (p.Gln2101Arg) | dbSNP |
16 | g.3728739T>G | CA394553672 | CREBBP | c.6308A>C (p.Gln2103Pro) c.6194A>C (p.Gln2065Pro) c.6263A>C (p.Gln2088Pro) c.5891A>C (p.Gln1964Pro) c.6047A>C (p.Gln2016Pro) c.6254A>C (p.Gln2085Pro) c.5555A>C (p.Gln1852Pro) c.6302A>C (p.Gln2101Pro) | dbSNP |
16 | g.3728740G>A | CA394553673 | CREBBP | c.6307C>T (p.Gln2103Ter) c.6193C>T (p.Gln2065Ter) c.6262C>T (p.Gln2088Ter) c.5890C>T (p.Gln1964Ter) c.6046C>T (p.Gln2016Ter) c.6253C>T (p.Gln2085Ter) c.5554C>T (p.Gln1852Ter) c.6301C>T (p.Gln2101Ter) | ClinVar |
16 | g.3728740G>C | CA394553674 | CREBBP | c.6307C>G (p.Gln2103Glu) c.6193C>G (p.Gln2065Glu) c.6262C>G (p.Gln2088Glu) c.5890C>G (p.Gln1964Glu) c.6046C>G (p.Gln2016Glu) c.6253C>G (p.Gln2085Glu) c.5554C>G (p.Gln1852Glu) c.6301C>G (p.Gln2101Glu) | |
16 | g.3728740G= | CA2202928838 | CREBBP | c.6307C= (p.Gln2103=) c.6193C= (p.Gln2065=) c.6262C= (p.Gln2088=) c.5890C= (p.Gln1964=) c.6046C= (p.Gln2016=) c.6253C= (p.Gln2085=) c.5554C= (p.Gln1852=) c.6301C= (p.Gln2101=) | |
16 | g.3728740G>T | CA394553675 | CREBBP | c.6307C>A (p.Gln2103Lys) c.6193C>A (p.Gln2065Lys) c.6262C>A (p.Gln2088Lys) c.5890C>A (p.Gln1964Lys) c.6046C>A (p.Gln2016Lys) c.6253C>A (p.Gln2085Lys) c.5554C>A (p.Gln1852Lys) c.6301C>A (p.Gln2101Lys) | dbSNP |
16 | g.3728741T>A | CA394553676 | CREBBP | c.6306A>T (p.Lys2102Asn) c.6192A>T (p.Lys2064Asn) c.6261A>T (p.Lys2087Asn) c.5889A>T (p.Lys1963Asn) c.6045A>T (p.Lys2015Asn) c.6252A>T (p.Lys2084Asn) c.5553A>T (p.Lys1851Asn) c.6300A>T (p.Lys2100Asn) | dbSNP |
16 | g.3728741T>C | CA493393638 | CREBBP | c.6306A>G (p.Lys2102=) c.6192A>G (p.Lys2064=) c.6261A>G (p.Lys2087=) c.5889A>G (p.Lys1963=) c.6045A>G (p.Lys2015=) c.6252A>G (p.Lys2084=) c.5553A>G (p.Lys1851=) c.6300A>G (p.Lys2100=) | dbSNP |
16 | g.3728741T>G | CA394553677 | CREBBP | c.6306A>C (p.Lys2102Asn) c.6192A>C (p.Lys2064Asn) c.6261A>C (p.Lys2087Asn) c.5889A>C (p.Lys1963Asn) c.6045A>C (p.Lys2015Asn) c.6252A>C (p.Lys2084Asn) c.5553A>C (p.Lys1851Asn) c.6300A>C (p.Lys2100Asn) | dbSNP |
16 | g.3728742T>A | CA394553680 | CREBBP | c.6305A>T (p.Lys2102Ile) c.6191A>T (p.Lys2064Ile) c.6260A>T (p.Lys2087Ile) c.5888A>T (p.Lys1963Ile) c.6044A>T (p.Lys2015Ile) c.6251A>T (p.Lys2084Ile) c.5552A>T (p.Lys1851Ile) c.6299A>T (p.Lys2100Ile) | |
16 | g.3728742T>C | CA394553679 | CREBBP | c.6305A>G (p.Lys2102Arg) c.6191A>G (p.Lys2064Arg) c.6260A>G (p.Lys2087Arg) c.5888A>G (p.Lys1963Arg) c.6044A>G (p.Lys2015Arg) c.6251A>G (p.Lys2084Arg) c.5552A>G (p.Lys1851Arg) c.6299A>G (p.Lys2100Arg) | dbSNP |
16 | g.3728742T>G | CA394553678 | CREBBP | c.6305A>C (p.Lys2102Thr) c.6191A>C (p.Lys2064Thr) c.6260A>C (p.Lys2087Thr) c.5888A>C (p.Lys1963Thr) c.6044A>C (p.Lys2015Thr) c.6251A>C (p.Lys2084Thr) c.5552A>C (p.Lys1851Thr) c.6299A>C (p.Lys2100Thr) | dbSNP |
16 | g.3728743T>A | CA394553681 | CREBBP | c.6304A>T (p.Lys2102Ter) c.6190A>T (p.Lys2064Ter) c.6259A>T (p.Lys2087Ter) c.5887A>T (p.Lys1963Ter) c.6043A>T (p.Lys2015Ter) c.6250A>T (p.Lys2084Ter) c.5551A>T (p.Lys1851Ter) c.6298A>T (p.Lys2100Ter) | dbSNP |
16 | g.3728743T>C | CA7869146 | CREBBP | c.6304A>G (p.Lys2102Glu) c.6190A>G (p.Lys2064Glu) c.6259A>G (p.Lys2087Glu) c.5887A>G (p.Lys1963Glu) c.6043A>G (p.Lys2015Glu) c.6250A>G (p.Lys2084Glu) c.5551A>G (p.Lys1851Glu) c.6298A>G (p.Lys2100Glu) | ClinVar dbSNP ExAC gnomAD v2 |
16 | g.3728743T>G | CA394553682 | CREBBP | c.6304A>C (p.Lys2102Gln) c.6190A>C (p.Lys2064Gln) c.6259A>C (p.Lys2087Gln) c.5887A>C (p.Lys1963Gln) c.6043A>C (p.Lys2015Gln) c.6250A>C (p.Lys2084Gln) c.5551A>C (p.Lys1851Gln) c.6298A>C (p.Lys2100Gln) | |
16 | g.3728743T= | CA2202928839 | CREBBP | c.6304A= (p.Lys2102=) c.6190A= (p.Lys2064=) c.6259A= (p.Lys2087=) c.5887A= (p.Lys1963=) c.6043A= (p.Lys2015=) c.6250A= (p.Lys2084=) c.5551A= (p.Lys1851=) c.6298A= (p.Lys2100=) | |
16 | g.3728744G>A | CA7869147 | CREBBP | c.6303C>T (p.Ile2101=) c.6189C>T (p.Ile2063=) c.6258C>T (p.Ile2086=) c.5886C>T (p.Ile1962=) c.6042C>T (p.Ile2014=) c.6249C>T (p.Ile2083=) c.5550C>T (p.Ile1850=) c.6297C>T (p.Ile2099=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3728744G>C | CA394553683 | CREBBP | c.6303C>G (p.Ile2101Met) c.6189C>G (p.Ile2063Met) c.6258C>G (p.Ile2086Met) c.5886C>G (p.Ile1962Met) c.6042C>G (p.Ile2014Met) c.6249C>G (p.Ile2083Met) c.5550C>G (p.Ile1850Met) c.6297C>G (p.Ile2099Met) | ClinVar dbSNP COSMIC |
16 | g.3728744G= | CA2202928840 | CREBBP | c.6303C= (p.Ile2101=) c.6189C= (p.Ile2063=) c.6258C= (p.Ile2086=) c.5886C= (p.Ile1962=) c.6042C= (p.Ile2014=) c.6249C= (p.Ile2083=) c.5550C= (p.Ile1850=) c.6297C= (p.Ile2099=) | |
16 | g.3728744G>T | CA493393639 | CREBBP | c.6303C>A (p.Ile2101=) c.6189C>A (p.Ile2063=) c.6258C>A (p.Ile2086=) c.5886C>A (p.Ile1962=) c.6042C>A (p.Ile2014=) c.6249C>A (p.Ile2083=) c.5550C>A (p.Ile1850=) c.6297C>A (p.Ile2099=) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.3728745A>C | CA394553684 | CREBBP | c.6302T>G (p.Ile2101Ser) c.6188T>G (p.Ile2063Ser) c.6257T>G (p.Ile2086Ser) c.5885T>G (p.Ile1962Ser) c.6041T>G (p.Ile2014Ser) c.6248T>G (p.Ile2083Ser) c.5549T>G (p.Ile1850Ser) c.6296T>G (p.Ile2099Ser) | |
16 | g.3728745A>G | CA394553685 | CREBBP | c.6302T>C (p.Ile2101Thr) c.6188T>C (p.Ile2063Thr) c.6257T>C (p.Ile2086Thr) c.5885T>C (p.Ile1962Thr) c.6041T>C (p.Ile2014Thr) c.6248T>C (p.Ile2083Thr) c.5549T>C (p.Ile1850Thr) c.6296T>C (p.Ile2099Thr) | |
16 | g.3728745A>T | CA394553686 | CREBBP | c.6302T>A (p.Ile2101Asn) c.6188T>A (p.Ile2063Asn) c.6257T>A (p.Ile2086Asn) c.5885T>A (p.Ile1962Asn) c.6041T>A (p.Ile2014Asn) c.6248T>A (p.Ile2083Asn) c.5549T>A (p.Ile1850Asn) c.6296T>A (p.Ile2099Asn) | |
16 | g.3728746T>A | CA394553687 | CREBBP | c.6301A>T (p.Ile2101Phe) c.6187A>T (p.Ile2063Phe) c.6256A>T (p.Ile2086Phe) c.5884A>T (p.Ile1962Phe) c.6040A>T (p.Ile2014Phe) c.6247A>T (p.Ile2083Phe) c.5548A>T (p.Ile1850Phe) c.6295A>T (p.Ile2099Phe) | |
16 | g.3728746T>C | CA394553688 | CREBBP | c.6301A>G (p.Ile2101Val) c.6187A>G (p.Ile2063Val) c.6256A>G (p.Ile2086Val) c.5884A>G (p.Ile1962Val) c.6040A>G (p.Ile2014Val) c.6247A>G (p.Ile2083Val) c.5548A>G (p.Ile1850Val) c.6295A>G (p.Ile2099Val) | ClinVar |
16 | g.3728746T>G | CA394553689 | CREBBP | c.6301A>C (p.Ile2101Leu) c.6187A>C (p.Ile2063Leu) c.6256A>C (p.Ile2086Leu) c.5884A>C (p.Ile1962Leu) c.6040A>C (p.Ile2014Leu) c.6247A>C (p.Ile2083Leu) c.5548A>C (p.Ile1850Leu) c.6295A>C (p.Ile2099Leu) | |
16 | g.3728747G>A | CA493393640 | CREBBP | c.6300C>T (p.Phe2100=) c.6186C>T (p.Phe2062=) c.6255C>T (p.Phe2085=) c.5883C>T (p.Phe1961=) c.6039C>T (p.Phe2013=) c.6246C>T (p.Phe2082=) c.5547C>T (p.Phe1849=) c.6294C>T (p.Phe2098=) | dbSNP gnomAD v4 |
16 | g.3728747G>C | CA394553690 | CREBBP | c.6300C>G (p.Phe2100Leu) c.6186C>G (p.Phe2062Leu) c.6255C>G (p.Phe2085Leu) c.5883C>G (p.Phe1961Leu) c.6039C>G (p.Phe2013Leu) c.6246C>G (p.Phe2082Leu) c.5547C>G (p.Phe1849Leu) c.6294C>G (p.Phe2098Leu) | dbSNP |
16 | g.3728747G>T | CA394553691 | CREBBP | c.6300C>A (p.Phe2100Leu) c.6186C>A (p.Phe2062Leu) c.6255C>A (p.Phe2085Leu) c.5883C>A (p.Phe1961Leu) c.6039C>A (p.Phe2013Leu) c.6246C>A (p.Phe2082Leu) c.5547C>A (p.Phe1849Leu) c.6294C>A (p.Phe2098Leu) | |
16 | g.3728748A>C | CA394553694 | CREBBP | c.6299T>G (p.Phe2100Cys) c.6185T>G (p.Phe2062Cys) c.6254T>G (p.Phe2085Cys) c.5882T>G (p.Phe1961Cys) c.6038T>G (p.Phe2013Cys) c.6245T>G (p.Phe2082Cys) c.5546T>G (p.Phe1849Cys) c.6293T>G (p.Phe2098Cys) | |
16 | g.3728748A>G | CA394553692 | CREBBP | c.6299T>C (p.Phe2100Ser) c.6185T>C (p.Phe2062Ser) c.6254T>C (p.Phe2085Ser) c.5882T>C (p.Phe1961Ser) c.6038T>C (p.Phe2013Ser) c.6245T>C (p.Phe2082Ser) c.5546T>C (p.Phe1849Ser) c.6293T>C (p.Phe2098Ser) | |
16 | g.3728748A>T | CA394553693 | CREBBP | c.6299T>A (p.Phe2100Tyr) c.6185T>A (p.Phe2062Tyr) c.6254T>A (p.Phe2085Tyr) c.5882T>A (p.Phe1961Tyr) c.6038T>A (p.Phe2013Tyr) c.6245T>A (p.Phe2082Tyr) c.5546T>A (p.Phe1849Tyr) c.6293T>A (p.Phe2098Tyr) | |
16 | g.3728749A>C | CA394553695 | CREBBP | c.6298T>G (p.Phe2100Val) c.6184T>G (p.Phe2062Val) c.6253T>G (p.Phe2085Val) c.5881T>G (p.Phe1961Val) c.6037T>G (p.Phe2013Val) c.6244T>G (p.Phe2082Val) c.5545T>G (p.Phe1849Val) c.6292T>G (p.Phe2098Val) | |
16 | g.3728749A>G | CA394553696 | CREBBP | c.6298T>C (p.Phe2100Leu) c.6184T>C (p.Phe2062Leu) c.6253T>C (p.Phe2085Leu) c.5881T>C (p.Phe1961Leu) c.6037T>C (p.Phe2013Leu) c.6244T>C (p.Phe2082Leu) c.5545T>C (p.Phe1849Leu) c.6292T>C (p.Phe2098Leu) | |
16 | g.3728749A>T | CA394553697 | CREBBP | c.6298T>A (p.Phe2100Ile) c.6184T>A (p.Phe2062Ile) c.6253T>A (p.Phe2085Ile) c.5881T>A (p.Phe1961Ile) c.6037T>A (p.Phe2013Ile) c.6244T>A (p.Phe2082Ile) c.5545T>A (p.Phe1849Ile) c.6292T>A (p.Phe2098Ile) | dbSNP |
16 | g.3728750A>C | CA493393641 | CREBBP | c.6297T>G (p.Ala2099=) c.6183T>G (p.Ala2061=) c.6252T>G (p.Ala2084=) c.5880T>G (p.Ala1960=) c.6036T>G (p.Ala2012=) c.6243T>G (p.Ala2081=) c.5544T>G (p.Ala1848=) c.6291T>G (p.Ala2097=) | |
16 | g.3728750A>G | CA493393642 | CREBBP | c.6297T>C (p.Ala2099=) c.6183T>C (p.Ala2061=) c.6252T>C (p.Ala2084=) c.5880T>C (p.Ala1960=) c.6036T>C (p.Ala2012=) c.6243T>C (p.Ala2081=) c.5544T>C (p.Ala1848=) c.6291T>C (p.Ala2097=) | |
16 | g.3728750A>T | CA493393643 | CREBBP | c.6297T>A (p.Ala2099=) c.6183T>A (p.Ala2061=) c.6252T>A (p.Ala2084=) c.5880T>A (p.Ala1960=) c.6036T>A (p.Ala2012=) c.6243T>A (p.Ala2081=) c.5544T>A (p.Ala1848=) c.6291T>A (p.Ala2097=) | dbSNP |
16 | g.3728751G>A | CA394553698 | CREBBP | c.6296C>T (p.Ala2099Val) c.6182C>T (p.Ala2061Val) c.6251C>T (p.Ala2084Val) c.5879C>T (p.Ala1960Val) c.6035C>T (p.Ala2012Val) c.6242C>T (p.Ala2081Val) c.5543C>T (p.Ala1848Val) c.6290C>T (p.Ala2097Val) | dbSNP |
16 | g.3728751G>C | CA7869148 | CREBBP | c.6296C>G (p.Ala2099Gly) c.6182C>G (p.Ala2061Gly) c.6251C>G (p.Ala2084Gly) c.5879C>G (p.Ala1960Gly) c.6035C>G (p.Ala2012Gly) c.6242C>G (p.Ala2081Gly) c.5543C>G (p.Ala1848Gly) c.6290C>G (p.Ala2097Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.3728751G= | CA2202928841 | CREBBP | c.6296C= (p.Ala2099=) c.6182C= (p.Ala2061=) c.6251C= (p.Ala2084=) c.5879C= (p.Ala1960=) c.6035C= (p.Ala2012=) c.6242C= (p.Ala2081=) c.5543C= (p.Ala1848=) c.6290C= (p.Ala2097=) | |
16 | g.3728751G>T | CA394553699 | CREBBP | c.6296C>A (p.Ala2099Asp) c.6182C>A (p.Ala2061Asp) c.6251C>A (p.Ala2084Asp) c.5879C>A (p.Ala1960Asp) c.6035C>A (p.Ala2012Asp) c.6242C>A (p.Ala2081Asp) c.5543C>A (p.Ala1848Asp) c.6290C>A (p.Ala2097Asp) | dbSNP |
16 | g.3728752C>A | CA394553700 | CREBBP | c.6295G>T (p.Ala2099Ser) c.6181G>T (p.Ala2061Ser) c.6250G>T (p.Ala2084Ser) c.5878G>T (p.Ala1960Ser) c.6034G>T (p.Ala2012Ser) c.6241G>T (p.Ala2081Ser) c.5542G>T (p.Ala1848Ser) c.6289G>T (p.Ala2097Ser) | dbSNP |
16 | g.3728752C= | CA2202928842 | CREBBP | c.6295G= (p.Ala2099=) c.6181G= (p.Ala2061=) c.6250G= (p.Ala2084=) c.5878G= (p.Ala1960=) c.6034G= (p.Ala2012=) c.6241G= (p.Ala2081=) c.5542G= (p.Ala1848=) c.6289G= (p.Ala2097=) | |
16 | g.3728752C>G | CA394553701 | CREBBP | c.6295G>C (p.Ala2099Pro) c.6181G>C (p.Ala2061Pro) c.6250G>C (p.Ala2084Pro) c.5878G>C (p.Ala1960Pro) c.6034G>C (p.Ala2012Pro) c.6241G>C (p.Ala2081Pro) c.5542G>C (p.Ala1848Pro) c.6289G>C (p.Ala2097Pro) | dbSNP |
16 | g.3728752C>T | CA7869149 | CREBBP | c.6295G>A (p.Ala2099Thr) c.6181G>A (p.Ala2061Thr) c.6250G>A (p.Ala2084Thr) c.5878G>A (p.Ala1960Thr) c.6034G>A (p.Ala2012Thr) c.6241G>A (p.Ala2081Thr) c.5542G>A (p.Ala1848Thr) c.6289G>A (p.Ala2097Thr) | dbSNP ExAC gnomAD v2 |
16 | g.3728753T>A | CA493393644 | CREBBP | c.6294A>T (p.Ala2098=) c.6180A>T (p.Ala2060=) c.6249A>T (p.Ala2083=) c.5877A>T (p.Ala1959=) c.6033A>T (p.Ala2011=) c.6240A>T (p.Ala2080=) c.5541A>T (p.Ala1847=) c.6288A>T (p.Ala2096=) | dbSNP |
16 | g.3728753T>C | CA493393645 | CREBBP | c.6294A>G (p.Ala2098=) c.6180A>G (p.Ala2060=) c.6249A>G (p.Ala2083=) c.5877A>G (p.Ala1959=) c.6033A>G (p.Ala2011=) c.6240A>G (p.Ala2080=) c.5541A>G (p.Ala1847=) c.6288A>G (p.Ala2096=) | |
16 | g.3728753T>G | CA493393646 | CREBBP | c.6294A>C (p.Ala2098=) c.6180A>C (p.Ala2060=) c.6249A>C (p.Ala2083=) c.5877A>C (p.Ala1959=) c.6033A>C (p.Ala2011=) c.6240A>C (p.Ala2080=) c.5541A>C (p.Ala1847=) c.6288A>C (p.Ala2096=) | |
16 | g.3728754G>A | CA394553702 | CREBBP | c.6293C>T (p.Ala2098Val) c.6179C>T (p.Ala2060Val) c.6248C>T (p.Ala2083Val) c.5876C>T (p.Ala1959Val) c.6032C>T (p.Ala2011Val) c.6239C>T (p.Ala2080Val) c.5540C>T (p.Ala1847Val) c.6287C>T (p.Ala2096Val) | ClinVar gnomAD v4 |
16 | g.3728754G>C | CA394553703 | CREBBP | c.6293C>G (p.Ala2098Gly) c.6179C>G (p.Ala2060Gly) c.6248C>G (p.Ala2083Gly) c.5876C>G (p.Ala1959Gly) c.6032C>G (p.Ala2011Gly) c.6239C>G (p.Ala2080Gly) c.5540C>G (p.Ala1847Gly) c.6287C>G (p.Ala2096Gly) | |
16 | g.3728754G>T | CA394553704 | CREBBP | c.6293C>A (p.Ala2098Glu) c.6179C>A (p.Ala2060Glu) c.6248C>A (p.Ala2083Glu) c.5876C>A (p.Ala1959Glu) c.6032C>A (p.Ala2011Glu) c.6239C>A (p.Ala2080Glu) c.5540C>A (p.Ala1847Glu) c.6287C>A (p.Ala2096Glu) | |
16 | g.3728755C>A | CA394553706 | CREBBP | c.6292G>T (p.Ala2098Ser) c.6178G>T (p.Ala2060Ser) c.6247G>T (p.Ala2083Ser) c.5875G>T (p.Ala1959Ser) c.6031G>T (p.Ala2011Ser) c.6238G>T (p.Ala2080Ser) c.5539G>T (p.Ala1847Ser) c.6286G>T (p.Ala2096Ser) | dbSNP COSMIC |
16 | g.3728755C>G | CA394553707 | CREBBP | c.6292G>C (p.Ala2098Pro) c.6178G>C (p.Ala2060Pro) c.6247G>C (p.Ala2083Pro) c.5875G>C (p.Ala1959Pro) c.6031G>C (p.Ala2011Pro) c.6238G>C (p.Ala2080Pro) c.5539G>C (p.Ala1847Pro) c.6286G>C (p.Ala2096Pro) | dbSNP |
16 | g.3728755C>T | CA394553705 | CREBBP | c.6292G>A (p.Ala2098Thr) c.6178G>A (p.Ala2060Thr) c.6247G>A (p.Ala2083Thr) c.5875G>A (p.Ala1959Thr) c.6031G>A (p.Ala2011Thr) c.6238G>A (p.Ala2080Thr) c.5539G>A (p.Ala1847Thr) c.6286G>A (p.Ala2096Thr) | dbSNP COSMIC |
16 | g.3728756C>A | CA394553710 | CREBBP | c.6291G>T (p.Met2097Ile) c.6177G>T (p.Met2059Ile) c.6246G>T (p.Met2082Ile) c.5874G>T (p.Met1958Ile) c.6030G>T (p.Met2010Ile) c.6237G>T (p.Met2079Ile) c.5538G>T (p.Met1846Ile) c.6285G>T (p.Met2095Ile) | |
16 | g.3728756C>G | CA394553708 | CREBBP | c.6291G>C (p.Met2097Ile) c.6177G>C (p.Met2059Ile) c.6246G>C (p.Met2082Ile) c.5874G>C (p.Met1958Ile) c.6030G>C (p.Met2010Ile) c.6237G>C (p.Met2079Ile) c.5538G>C (p.Met1846Ile) c.6285G>C (p.Met2095Ile) | dbSNP |
16 | g.3728756C>T | CA394553709 | CREBBP | c.6291G>A (p.Met2097Ile) c.6177G>A (p.Met2059Ile) c.6246G>A (p.Met2082Ile) c.5874G>A (p.Met1958Ile) c.6030G>A (p.Met2010Ile) c.6237G>A (p.Met2079Ile) c.5538G>A (p.Met1846Ile) c.6285G>A (p.Met2095Ile) | dbSNP |
16 | g.3728757A>C | CA394553711 | CREBBP | c.6290T>G (p.Met2097Arg) c.6176T>G (p.Met2059Arg) c.6245T>G (p.Met2082Arg) c.5873T>G (p.Met1958Arg) c.6029T>G (p.Met2010Arg) c.6236T>G (p.Met2079Arg) c.5537T>G (p.Met1846Arg) c.6284T>G (p.Met2095Arg) | |
16 | g.3728757A>G | CA394553712 | CREBBP | c.6290T>C (p.Met2097Thr) c.6176T>C (p.Met2059Thr) c.6245T>C (p.Met2082Thr) c.5873T>C (p.Met1958Thr) c.6029T>C (p.Met2010Thr) c.6236T>C (p.Met2079Thr) c.5537T>C (p.Met1846Thr) c.6284T>C (p.Met2095Thr) | dbSNP |
16 | g.3728757A>T | CA394553713 | CREBBP | c.6290T>A (p.Met2097Lys) c.6176T>A (p.Met2059Lys) c.6245T>A (p.Met2082Lys) c.5873T>A (p.Met1958Lys) c.6029T>A (p.Met2010Lys) c.6236T>A (p.Met2079Lys) c.5537T>A (p.Met1846Lys) c.6284T>A (p.Met2095Lys) | |
16 | g.3728758T>A | CA394553714 | CREBBP | c.6289A>T (p.Met2097Leu) c.6175A>T (p.Met2059Leu) c.6244A>T (p.Met2082Leu) c.5872A>T (p.Met1958Leu) c.6028A>T (p.Met2010Leu) c.6235A>T (p.Met2079Leu) c.5536A>T (p.Met1846Leu) c.6283A>T (p.Met2095Leu) | dbSNP |
16 | g.3728758T>C | CA394553715 | CREBBP | c.6289A>G (p.Met2097Val) c.6175A>G (p.Met2059Val) c.6244A>G (p.Met2082Val) c.5872A>G (p.Met1958Val) c.6028A>G (p.Met2010Val) c.6235A>G (p.Met2079Val) c.5536A>G (p.Met1846Val) c.6283A>G (p.Met2095Val) | |
16 | g.3728758T>G | CA394553716 | CREBBP | c.6289A>C (p.Met2097Leu) c.6175A>C (p.Met2059Leu) c.6244A>C (p.Met2082Leu) c.5872A>C (p.Met1958Leu) c.6028A>C (p.Met2010Leu) c.6235A>C (p.Met2079Leu) c.5536A>C (p.Met1846Leu) c.6283A>C (p.Met2095Leu) | dbSNP |
16 | g.3728759T>A | CA493393649 | CREBBP | c.6288A>T (p.Leu2096=) c.6174A>T (p.Leu2058=) c.6243A>T (p.Leu2081=) c.5871A>T (p.Leu1957=) c.6027A>T (p.Leu2009=) c.6234A>T (p.Leu2078=) c.5535A>T (p.Leu1845=) c.6282A>T (p.Leu2094=) | |
16 | g.3728759T>C | CA493393648 | CREBBP | c.6288A>G (p.Leu2096=) c.6174A>G (p.Leu2058=) c.6243A>G (p.Leu2081=) c.5871A>G (p.Leu1957=) c.6027A>G (p.Leu2009=) c.6234A>G (p.Leu2078=) c.5535A>G (p.Leu1845=) c.6282A>G (p.Leu2094=) | |
16 | g.3728759T>G | CA493393647 | CREBBP | c.6288A>C (p.Leu2096=) c.6174A>C (p.Leu2058=) c.6243A>C (p.Leu2081=) c.5871A>C (p.Leu1957=) c.6027A>C (p.Leu2009=) c.6234A>C (p.Leu2078=) c.5535A>C (p.Leu1845=) c.6282A>C (p.Leu2094=) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.3728759T= | CA2202928843 | CREBBP | c.6288A= (p.Leu2096=) c.6174A= (p.Leu2058=) c.6243A= (p.Leu2081=) c.5871A= (p.Leu1957=) c.6027A= (p.Leu2009=) c.6234A= (p.Leu2078=) c.5535A= (p.Leu1845=) c.6282A= (p.Leu2094=) | |
16 | g.3728760A>C | CA394553717 | CREBBP | c.6287T>G (p.Leu2096Arg) c.6173T>G (p.Leu2058Arg) c.6242T>G (p.Leu2081Arg) c.5870T>G (p.Leu1957Arg) c.6026T>G (p.Leu2009Arg) c.6233T>G (p.Leu2078Arg) c.5534T>G (p.Leu1845Arg) c.6281T>G (p.Leu2094Arg) | |
16 | g.3728760A>G | CA394553718 | CREBBP | c.6287T>C (p.Leu2096Pro) c.6173T>C (p.Leu2058Pro) c.6242T>C (p.Leu2081Pro) c.5870T>C (p.Leu1957Pro) c.6026T>C (p.Leu2009Pro) c.6233T>C (p.Leu2078Pro) c.5534T>C (p.Leu1845Pro) c.6281T>C (p.Leu2094Pro) | dbSNP |
16 | g.3728760A>T | CA394553719 | CREBBP | c.6287T>A (p.Leu2096Gln) c.6173T>A (p.Leu2058Gln) c.6242T>A (p.Leu2081Gln) c.5870T>A (p.Leu1957Gln) c.6026T>A (p.Leu2009Gln) c.6233T>A (p.Leu2078Gln) c.5534T>A (p.Leu1845Gln) c.6281T>A (p.Leu2094Gln) | dbSNP |
16 | g.3728761G>A | CA493393650 | CREBBP | c.6286C>T (p.Leu2096=) c.6172C>T (p.Leu2058=) c.6241C>T (p.Leu2081=) c.5869C>T (p.Leu1957=) c.6025C>T (p.Leu2009=) c.6232C>T (p.Leu2078=) c.5533C>T (p.Leu1845=) c.6280C>T (p.Leu2094=) | dbSNP |
16 | g.3728761G>C | CA394553720 | CREBBP | c.6286C>G (p.Leu2096Val) c.6172C>G (p.Leu2058Val) c.6241C>G (p.Leu2081Val) c.5869C>G (p.Leu1957Val) c.6025C>G (p.Leu2009Val) c.6232C>G (p.Leu2078Val) c.5533C>G (p.Leu1845Val) c.6280C>G (p.Leu2094Val) | dbSNP |
16 | g.3728761G= | CA2202928844 | CREBBP | c.6286C= (p.Leu2096=) c.6172C= (p.Leu2058=) c.6241C= (p.Leu2081=) c.5869C= (p.Leu1957=) c.6025C= (p.Leu2009=) c.6232C= (p.Leu2078=) c.5533C= (p.Leu1845=) c.6280C= (p.Leu2094=) | |
16 | g.3728761G>T | CA394553721 | CREBBP | c.6286C>A (p.Leu2096Ile) c.6172C>A (p.Leu2058Ile) c.6241C>A (p.Leu2081Ile) c.5869C>A (p.Leu1957Ile) c.6025C>A (p.Leu2009Ile) c.6232C>A (p.Leu2078Ile) c.5533C>A (p.Leu1845Ile) c.6280C>A (p.Leu2094Ile) | COSMIC |
16 | g.3728762C>A | CA394553723 | CREBBP | c.6285G>T (p.Gln2095His) c.6171G>T (p.Gln2057His) c.6240G>T (p.Gln2080His) c.5868G>T (p.Gln1956His) c.6024G>T (p.Gln2008His) c.6231G>T (p.Gln2077His) c.5532G>T (p.Gln1844His) c.6279G>T (p.Gln2093His) | dbSNP |
16 | g.3728762C>G | CA394553722 | CREBBP | c.6285G>C (p.Gln2095His) c.6171G>C (p.Gln2057His) c.6240G>C (p.Gln2080His) c.5868G>C (p.Gln1956His) c.6024G>C (p.Gln2008His) c.6231G>C (p.Gln2077His) c.5532G>C (p.Gln1844His) c.6279G>C (p.Gln2093His) | dbSNP |
16 | g.3728762C>T | CA493393651 | CREBBP | c.6285G>A (p.Gln2095=) c.6171G>A (p.Gln2057=) c.6240G>A (p.Gln2080=) c.5868G>A (p.Gln1956=) c.6024G>A (p.Gln2008=) c.6231G>A (p.Gln2077=) c.5532G>A (p.Gln1844=) c.6279G>A (p.Gln2093=) | |
16 | g.3728763T>A | CA394553724 | CREBBP | c.6284A>T (p.Gln2095Leu) c.6170A>T (p.Gln2057Leu) c.6239A>T (p.Gln2080Leu) c.5867A>T (p.Gln1956Leu) c.6023A>T (p.Gln2008Leu) c.6230A>T (p.Gln2077Leu) c.5531A>T (p.Gln1844Leu) c.6278A>T (p.Gln2093Leu) | |
16 | g.3728763T>C | CA394553725 | CREBBP | c.6284A>G (p.Gln2095Arg) c.6170A>G (p.Gln2057Arg) c.6239A>G (p.Gln2080Arg) c.5867A>G (p.Gln1956Arg) c.6023A>G (p.Gln2008Arg) c.6230A>G (p.Gln2077Arg) c.5531A>G (p.Gln1844Arg) c.6278A>G (p.Gln2093Arg) | |
16 | g.3728763T>G | CA394553726 | CREBBP | c.6284A>C (p.Gln2095Pro) c.6170A>C (p.Gln2057Pro) c.6239A>C (p.Gln2080Pro) c.5867A>C (p.Gln1956Pro) c.6023A>C (p.Gln2008Pro) c.6230A>C (p.Gln2077Pro) c.5531A>C (p.Gln1844Pro) c.6278A>C (p.Gln2093Pro) | |
16 | g.3728764G>A | CA394553727 | CREBBP | c.6283C>T (p.Gln2095Ter) c.6169C>T (p.Gln2057Ter) c.6238C>T (p.Gln2080Ter) c.5866C>T (p.Gln1956Ter) c.6022C>T (p.Gln2008Ter) c.6229C>T (p.Gln2077Ter) c.5530C>T (p.Gln1844Ter) c.6277C>T (p.Gln2093Ter) | dbSNP |
16 | g.3728764G>C | CA394553728 | CREBBP | c.6283C>G (p.Gln2095Glu) c.6169C>G (p.Gln2057Glu) c.6238C>G (p.Gln2080Glu) c.5866C>G (p.Gln1956Glu) c.6022C>G (p.Gln2008Glu) c.6229C>G (p.Gln2077Glu) c.5530C>G (p.Gln1844Glu) c.6277C>G (p.Gln2093Glu) | dbSNP |
16 | g.3728764G>T | CA394553729 | CREBBP | c.6283C>A (p.Gln2095Lys) c.6169C>A (p.Gln2057Lys) c.6238C>A (p.Gln2080Lys) c.5866C>A (p.Gln1956Lys) c.6022C>A (p.Gln2008Lys) c.6229C>A (p.Gln2077Lys) c.5530C>A (p.Gln1844Lys) c.6277C>A (p.Gln2093Lys) | |
16 | g.3728765C>A | CA493393653 | CREBBP | c.6282G>T (p.Pro2094=) c.6168G>T (p.Pro2056=) c.6237G>T (p.Pro2079=) c.5865G>T (p.Pro1955=) c.6021G>T (p.Pro2007=) c.6228G>T (p.Pro2076=) c.5529G>T (p.Pro1843=) c.6276G>T (p.Pro2092=) | dbSNP |
16 | g.3728765C= | CA2202928845 | CREBBP | c.6282G= (p.Pro2094=) c.6168G= (p.Pro2056=) c.6237G= (p.Pro2079=) c.5865G= (p.Pro1955=) c.6021G= (p.Pro2007=) c.6228G= (p.Pro2076=) c.5529G= (p.Pro1843=) c.6276G= (p.Pro2092=) | |
16 | g.3728765C>G | CA493393652 | CREBBP | c.6282G>C (p.Pro2094=) c.6168G>C (p.Pro2056=) c.6237G>C (p.Pro2079=) c.5865G>C (p.Pro1955=) c.6021G>C (p.Pro2007=) c.6228G>C (p.Pro2076=) c.5529G>C (p.Pro1843=) c.6276G>C (p.Pro2092=) | dbSNP |
16 | g.3728765C>T | CA7869150 | CREBBP | c.6282G>A (p.Pro2094=) c.6168G>A (p.Pro2056=) c.6237G>A (p.Pro2079=) c.5865G>A (p.Pro1955=) c.6021G>A (p.Pro2007=) c.6228G>A (p.Pro2076=) c.5529G>A (p.Pro1843=) c.6276G>A (p.Pro2092=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3728766G>A | CA394553730 | CREBBP | c.6281C>T (p.Pro2094Leu) c.6167C>T (p.Pro2056Leu) c.6236C>T (p.Pro2079Leu) c.5864C>T (p.Pro1955Leu) c.6020C>T (p.Pro2007Leu) c.6227C>T (p.Pro2076Leu) c.5528C>T (p.Pro1843Leu) c.6275C>T (p.Pro2092Leu) | COSMIC |
16 | g.3728766G>C | CA394553731 | CREBBP | c.6281C>G (p.Pro2094Arg) c.6167C>G (p.Pro2056Arg) c.6236C>G (p.Pro2079Arg) c.5864C>G (p.Pro1955Arg) c.6020C>G (p.Pro2007Arg) c.6227C>G (p.Pro2076Arg) c.5528C>G (p.Pro1843Arg) c.6275C>G (p.Pro2092Arg) | |
16 | g.3728766G>T | CA394553732 | CREBBP | c.6281C>A (p.Pro2094Gln) c.6167C>A (p.Pro2056Gln) c.6236C>A (p.Pro2079Gln) c.5864C>A (p.Pro1955Gln) c.6020C>A (p.Pro2007Gln) c.6227C>A (p.Pro2076Gln) c.5528C>A (p.Pro1843Gln) c.6275C>A (p.Pro2092Gln) | |
16 | g.3728767G>A | CA394553733 | CREBBP | c.6280C>T (p.Pro2094Ser) c.6166C>T (p.Pro2056Ser) c.6235C>T (p.Pro2079Ser) c.5863C>T (p.Pro1955Ser) c.6019C>T (p.Pro2007Ser) c.6226C>T (p.Pro2076Ser) c.5527C>T (p.Pro1843Ser) c.6274C>T (p.Pro2092Ser) | dbSNP |
16 | g.3728767G>C | CA394553734 | CREBBP | c.6280C>G (p.Pro2094Ala) c.6166C>G (p.Pro2056Ala) c.6235C>G (p.Pro2079Ala) c.5863C>G (p.Pro1955Ala) c.6019C>G (p.Pro2007Ala) c.6226C>G (p.Pro2076Ala) c.5527C>G (p.Pro1843Ala) c.6274C>G (p.Pro2092Ala) | dbSNP |
16 | g.3728767G>T | CA394553735 | CREBBP | c.6280C>A (p.Pro2094Thr) c.6166C>A (p.Pro2056Thr) c.6235C>A (p.Pro2079Thr) c.5863C>A (p.Pro1955Thr) c.6019C>A (p.Pro2007Thr) c.6226C>A (p.Pro2076Thr) c.5527C>A (p.Pro1843Thr) c.6274C>A (p.Pro2092Thr) | dbSNP |
16 | g.3728768G>A | CA7869151 | CREBBP | c.6279C>T (p.Asn2093=) c.6165C>T (p.Asn2055=) c.6234C>T (p.Asn2078=) c.5862C>T (p.Asn1954=) c.6018C>T (p.Asn2006=) c.6225C>T (p.Asn2075=) c.5526C>T (p.Asn1842=) c.6273C>T (p.Asn2091=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3728768G>C | CA394553737 | CREBBP | c.6279C>G (p.Asn2093Lys) c.6165C>G (p.Asn2055Lys) c.6234C>G (p.Asn2078Lys) c.5862C>G (p.Asn1954Lys) c.6018C>G (p.Asn2006Lys) c.6225C>G (p.Asn2075Lys) c.5526C>G (p.Asn1842Lys) c.6273C>G (p.Asn2091Lys) | dbSNP |
16 | g.3728768G= | CA2202928846 | CREBBP | c.6279C= (p.Asn2093=) c.6165C= (p.Asn2055=) c.6234C= (p.Asn2078=) c.5862C= (p.Asn1954=) c.6018C= (p.Asn2006=) c.6225C= (p.Asn2075=) c.5526C= (p.Asn1842=) c.6273C= (p.Asn2091=) | |
16 | g.3728768G>T | CA394553736 | CREBBP | c.6279C>A (p.Asn2093Lys) c.6165C>A (p.Asn2055Lys) c.6234C>A (p.Asn2078Lys) c.5862C>A (p.Asn1954Lys) c.6018C>A (p.Asn2006Lys) c.6225C>A (p.Asn2075Lys) c.5526C>A (p.Asn1842Lys) c.6273C>A (p.Asn2091Lys) | dbSNP |
16 | g.3728769T>A | CA394553739 | CREBBP | c.6278A>T (p.Asn2093Ile) c.6164A>T (p.Asn2055Ile) c.6233A>T (p.Asn2078Ile) c.5861A>T (p.Asn1954Ile) c.6017A>T (p.Asn2006Ile) c.6224A>T (p.Asn2075Ile) c.5525A>T (p.Asn1842Ile) c.6272A>T (p.Asn2091Ile) | dbSNP |
16 | g.3728769T>C | CA394553738 | CREBBP | c.6278A>G (p.Asn2093Ser) c.6164A>G (p.Asn2055Ser) c.6233A>G (p.Asn2078Ser) c.5861A>G (p.Asn1954Ser) c.6017A>G (p.Asn2006Ser) c.6224A>G (p.Asn2075Ser) c.5525A>G (p.Asn1842Ser) c.6272A>G (p.Asn2091Ser) | dbSNP |
16 | g.3728769T>G | CA276971710 | CREBBP | c.6278A>C (p.Asn2093Thr) c.6164A>C (p.Asn2055Thr) c.6233A>C (p.Asn2078Thr) c.5861A>C (p.Asn1954Thr) c.6017A>C (p.Asn2006Thr) c.6224A>C (p.Asn2075Thr) c.5525A>C (p.Asn1842Thr) c.6272A>C (p.Asn2091Thr) | dbSNP gnomAD v2 |
16 | g.3728769T= | CA2202928847 | CREBBP | c.6278A= (p.Asn2093=) c.6164A= (p.Asn2055=) c.6233A= (p.Asn2078=) c.5861A= (p.Asn1954=) c.6017A= (p.Asn2006=) c.6224A= (p.Asn2075=) c.5525A= (p.Asn1842=) c.6272A= (p.Asn2091=) | |
16 | g.3728770T>A | CA394553740 | CREBBP | c.6277A>T (p.Asn2093Tyr) c.6163A>T (p.Asn2055Tyr) c.6232A>T (p.Asn2078Tyr) c.5860A>T (p.Asn1954Tyr) c.6016A>T (p.Asn2006Tyr) c.6223A>T (p.Asn2075Tyr) c.5524A>T (p.Asn1842Tyr) c.6271A>T (p.Asn2091Tyr) | dbSNP |
16 | g.3728770T>C | CA394553741 | CREBBP | c.6277A>G (p.Asn2093Asp) c.6163A>G (p.Asn2055Asp) c.6232A>G (p.Asn2078Asp) c.5860A>G (p.Asn1954Asp) c.6016A>G (p.Asn2006Asp) c.6223A>G (p.Asn2075Asp) c.5524A>G (p.Asn1842Asp) c.6271A>G (p.Asn2091Asp) | dbSNP |
16 | g.3728770T>G | CA394553742 | CREBBP | c.6277A>C (p.Asn2093His) c.6163A>C (p.Asn2055His) c.6232A>C (p.Asn2078His) c.5860A>C (p.Asn1954His) c.6016A>C (p.Asn2006His) c.6223A>C (p.Asn2075His) c.5524A>C (p.Asn1842His) c.6271A>C (p.Asn2091His) | dbSNP |
16 | g.3728771T>A | CA493393656 | CREBBP | c.6276A>T (p.Ser2092=) c.6162A>T (p.Ser2054=) c.6231A>T (p.Ser2077=) c.5859A>T (p.Ser1953=) c.6015A>T (p.Ser2005=) c.6222A>T (p.Ser2074=) c.5523A>T (p.Ser1841=) c.6270A>T (p.Ser2090=) | dbSNP |
16 | g.3728771T>C | CA493393654 | CREBBP | c.6276A>G (p.Ser2092=) c.6162A>G (p.Ser2054=) c.6231A>G (p.Ser2077=) c.5859A>G (p.Ser1953=) c.6015A>G (p.Ser2005=) c.6222A>G (p.Ser2074=) c.5523A>G (p.Ser1841=) c.6270A>G (p.Ser2090=) | dbSNP |
16 | g.3728771T>G | CA493393655 | CREBBP | c.6276A>C (p.Ser2092=) c.6162A>C (p.Ser2054=) c.6231A>C (p.Ser2077=) c.5859A>C (p.Ser1953=) c.6015A>C (p.Ser2005=) c.6222A>C (p.Ser2074=) c.5523A>C (p.Ser1841=) c.6270A>C (p.Ser2090=) | |
16 | g.3728772G>A | CA394553743 | CREBBP | c.6275C>T (p.Ser2092Leu) c.6161C>T (p.Ser2054Leu) c.6230C>T (p.Ser2077Leu) c.5858C>T (p.Ser1953Leu) c.6014C>T (p.Ser2005Leu) c.6221C>T (p.Ser2074Leu) c.5522C>T (p.Ser1841Leu) c.6269C>T (p.Ser2090Leu) | dbSNP |
16 | g.3728772G>C | CA394553744 | CREBBP | c.6275C>G (p.Ser2092Ter) c.6161C>G (p.Ser2054Ter) c.6230C>G (p.Ser2077Ter) c.5858C>G (p.Ser1953Ter) c.6014C>G (p.Ser2005Ter) c.6221C>G (p.Ser2074Ter) c.5522C>G (p.Ser1841Ter) c.6269C>G (p.Ser2090Ter) | ClinVar dbSNP |
16 | g.3728772G= | CA2202928848 | CREBBP | c.6275C= (p.Ser2092=) c.6161C= (p.Ser2054=) c.6230C= (p.Ser2077=) c.5858C= (p.Ser1953=) c.6014C= (p.Ser2005=) c.6221C= (p.Ser2074=) c.5522C= (p.Ser1841=) c.6269C= (p.Ser2090=) | |
16 | g.3728772G>T | CA394553745 | CREBBP | c.6275C>A (p.Ser2092Ter) c.6161C>A (p.Ser2054Ter) c.6230C>A (p.Ser2077Ter) c.5858C>A (p.Ser1953Ter) c.6014C>A (p.Ser2005Ter) c.6221C>A (p.Ser2074Ter) c.5522C>A (p.Ser1841Ter) c.6269C>A (p.Ser2090Ter) | |
16 | g.3728773A>C | CA394553746 | CREBBP | c.6274T>G (p.Ser2092Ala) c.6160T>G (p.Ser2054Ala) c.6229T>G (p.Ser2077Ala) c.5857T>G (p.Ser1953Ala) c.6013T>G (p.Ser2005Ala) c.6220T>G (p.Ser2074Ala) c.5521T>G (p.Ser1841Ala) c.6268T>G (p.Ser2090Ala) | |
16 | g.3728773A>G | CA394553747 | CREBBP | c.6274T>C (p.Ser2092Pro) c.6160T>C (p.Ser2054Pro) c.6229T>C (p.Ser2077Pro) c.5857T>C (p.Ser1953Pro) c.6013T>C (p.Ser2005Pro) c.6220T>C (p.Ser2074Pro) c.5521T>C (p.Ser1841Pro) c.6268T>C (p.Ser2090Pro) | |
16 | g.3728773A>T | CA394553748 | CREBBP | c.6274T>A (p.Ser2092Thr) c.6160T>A (p.Ser2054Thr) c.6229T>A (p.Ser2077Thr) c.5857T>A (p.Ser1953Thr) c.6013T>A (p.Ser2005Thr) c.6220T>A (p.Ser2074Thr) c.5521T>A (p.Ser1841Thr) c.6268T>A (p.Ser2090Thr) | |
16 | g.3728774T>A | CA394553749 | CREBBP | c.6273A>T (p.Lys2091Asn) c.6159A>T (p.Lys2053Asn) c.6228A>T (p.Lys2076Asn) c.5856A>T (p.Lys1952Asn) c.6012A>T (p.Lys2004Asn) c.6219A>T (p.Lys2073Asn) c.5520A>T (p.Lys1840Asn) c.6267A>T (p.Lys2089Asn) | ClinVar dbSNP |
16 | g.3728774T>C | CA493393657 | CREBBP | c.6273A>G (p.Lys2091=) c.6159A>G (p.Lys2053=) c.6228A>G (p.Lys2076=) c.5856A>G (p.Lys1952=) c.6012A>G (p.Lys2004=) c.6219A>G (p.Lys2073=) c.5520A>G (p.Lys1840=) c.6267A>G (p.Lys2089=) | ClinVar |
16 | g.3728774T>G | CA394553750 | CREBBP | c.6273A>C (p.Lys2091Asn) c.6159A>C (p.Lys2053Asn) c.6228A>C (p.Lys2076Asn) c.5856A>C (p.Lys1952Asn) c.6012A>C (p.Lys2004Asn) c.6219A>C (p.Lys2073Asn) c.5520A>C (p.Lys1840Asn) c.6267A>C (p.Lys2089Asn) | dbSNP |
16 | g.3728775T>A | CA394553753 | CREBBP | c.6272A>T (p.Lys2091Ile) c.6158A>T (p.Lys2053Ile) c.6227A>T (p.Lys2076Ile) c.5855A>T (p.Lys1952Ile) c.6011A>T (p.Lys2004Ile) c.6218A>T (p.Lys2073Ile) c.5519A>T (p.Lys1840Ile) c.6266A>T (p.Lys2089Ile) | dbSNP |
16 | g.3728775T>C | CA394553751 | CREBBP | c.6272A>G (p.Lys2091Arg) c.6158A>G (p.Lys2053Arg) c.6227A>G (p.Lys2076Arg) c.5855A>G (p.Lys1952Arg) c.6011A>G (p.Lys2004Arg) c.6218A>G (p.Lys2073Arg) c.5519A>G (p.Lys1840Arg) c.6266A>G (p.Lys2089Arg) | gnomAD v4 |
16 | g.3728775T>G | CA394553752 | CREBBP | c.6272A>C (p.Lys2091Thr) c.6158A>C (p.Lys2053Thr) c.6227A>C (p.Lys2076Thr) c.5855A>C (p.Lys1952Thr) c.6011A>C (p.Lys2004Thr) c.6218A>C (p.Lys2073Thr) c.5519A>C (p.Lys1840Thr) c.6266A>C (p.Lys2089Thr) | |
16 | g.3728776T>A | CA394553754 | CREBBP | c.6271A>T (p.Lys2091Ter) c.6157A>T (p.Lys2053Ter) c.6226A>T (p.Lys2076Ter) c.5854A>T (p.Lys1952Ter) c.6010A>T (p.Lys2004Ter) c.6217A>T (p.Lys2073Ter) c.5518A>T (p.Lys1840Ter) c.6265A>T (p.Lys2089Ter) | ClinVar |
16 | g.3728776T>C | CA394553755 | CREBBP | c.6271A>G (p.Lys2091Glu) c.6157A>G (p.Lys2053Glu) c.6226A>G (p.Lys2076Glu) c.5854A>G (p.Lys1952Glu) c.6010A>G (p.Lys2004Glu) c.6217A>G (p.Lys2073Glu) c.5518A>G (p.Lys1840Glu) c.6265A>G (p.Lys2089Glu) | |
16 | g.3728776T>G | CA394553756 | CREBBP | c.6271A>C (p.Lys2091Gln) c.6157A>C (p.Lys2053Gln) c.6226A>C (p.Lys2076Gln) c.5854A>C (p.Lys1952Gln) c.6010A>C (p.Lys2004Gln) c.6217A>C (p.Lys2073Gln) c.5518A>C (p.Lys1840Gln) c.6265A>C (p.Lys2089Gln) | |
16 | g.3728777G>A | CA493393658 | CREBBP | c.6270C>T (p.Leu2090=) c.6156C>T (p.Leu2052=) c.6225C>T (p.Leu2075=) c.5853C>T (p.Leu1951=) c.6009C>T (p.Leu2003=) c.6216C>T (p.Leu2072=) c.5517C>T (p.Leu1839=) c.6264C>T (p.Leu2088=) | dbSNP |
16 | g.3728777G>C | CA493393659 | CREBBP | c.6270C>G (p.Leu2090=) c.6156C>G (p.Leu2052=) c.6225C>G (p.Leu2075=) c.5853C>G (p.Leu1951=) c.6009C>G (p.Leu2003=) c.6216C>G (p.Leu2072=) c.5517C>G (p.Leu1839=) c.6264C>G (p.Leu2088=) | dbSNP |
16 | g.3728777G>T | CA493393660 | CREBBP | c.6270C>A (p.Leu2090=) c.6156C>A (p.Leu2052=) c.6225C>A (p.Leu2075=) c.5853C>A (p.Leu1951=) c.6009C>A (p.Leu2003=) c.6216C>A (p.Leu2072=) c.5517C>A (p.Leu1839=) c.6264C>A (p.Leu2088=) | |
16 | g.3728778A>C | CA394553757 | CREBBP | c.6269T>G (p.Leu2090Arg) c.6155T>G (p.Leu2052Arg) c.6224T>G (p.Leu2075Arg) c.5852T>G (p.Leu1951Arg) c.6008T>G (p.Leu2003Arg) c.6215T>G (p.Leu2072Arg) c.5516T>G (p.Leu1839Arg) c.6263T>G (p.Leu2088Arg) | |
16 | g.3728778A>G | CA394553758 | CREBBP | c.6269T>C (p.Leu2090Pro) c.6155T>C (p.Leu2052Pro) c.6224T>C (p.Leu2075Pro) c.5852T>C (p.Leu1951Pro) c.6008T>C (p.Leu2003Pro) c.6215T>C (p.Leu2072Pro) c.5516T>C (p.Leu1839Pro) c.6263T>C (p.Leu2088Pro) | dbSNP |
16 | g.3728778A>T | CA394553759 | CREBBP | c.6269T>A (p.Leu2090His) c.6155T>A (p.Leu2052His) c.6224T>A (p.Leu2075His) c.5852T>A (p.Leu1951His) c.6008T>A (p.Leu2003His) c.6215T>A (p.Leu2072His) c.5516T>A (p.Leu1839His) c.6263T>A (p.Leu2088His) | dbSNP |
16 | g.3728779G>A | CA394553760 | CREBBP | c.6268C>T (p.Leu2090Phe) c.6154C>T (p.Leu2052Phe) c.6223C>T (p.Leu2075Phe) c.5851C>T (p.Leu1951Phe) c.6007C>T (p.Leu2003Phe) c.6214C>T (p.Leu2072Phe) c.5515C>T (p.Leu1839Phe) c.6262C>T (p.Leu2088Phe) | dbSNP |
16 | g.3728779G>C | CA394553761 | CREBBP | c.6268C>G (p.Leu2090Val) c.6154C>G (p.Leu2052Val) c.6223C>G (p.Leu2075Val) c.5851C>G (p.Leu1951Val) c.6007C>G (p.Leu2003Val) c.6214C>G (p.Leu2072Val) c.5515C>G (p.Leu1839Val) c.6262C>G (p.Leu2088Val) | dbSNP |
16 | g.3728779G>T | CA394553762 | CREBBP | c.6268C>A (p.Leu2090Ile) c.6154C>A (p.Leu2052Ile) c.6223C>A (p.Leu2075Ile) c.5851C>A (p.Leu1951Ile) c.6007C>A (p.Leu2003Ile) c.6214C>A (p.Leu2072Ile) c.5515C>A (p.Leu1839Ile) c.6262C>A (p.Leu2088Ile) | |
16 | g.3728780A>C | CA394553763 | CREBBP | c.6267T>G (p.Ile2089Met) c.6153T>G (p.Ile2051Met) c.6222T>G (p.Ile2074Met) c.5850T>G (p.Ile1950Met) c.6006T>G (p.Ile2002Met) c.6213T>G (p.Ile2071Met) c.5514T>G (p.Ile1838Met) c.6261T>G (p.Ile2087Met) | |
16 | g.3728780A>G | CA493393661 | CREBBP | c.6267T>C (p.Ile2089=) c.6153T>C (p.Ile2051=) c.6222T>C (p.Ile2074=) c.5850T>C (p.Ile1950=) c.6006T>C (p.Ile2002=) c.6213T>C (p.Ile2071=) c.5514T>C (p.Ile1838=) c.6261T>C (p.Ile2087=) | dbSNP |
16 | g.3728780A>T | CA493393662 | CREBBP | c.6267T>A (p.Ile2089=) c.6153T>A (p.Ile2051=) c.6222T>A (p.Ile2074=) c.5850T>A (p.Ile1950=) c.6006T>A (p.Ile2002=) c.6213T>A (p.Ile2071=) c.5514T>A (p.Ile1838=) c.6261T>A (p.Ile2087=) | dbSNP |
16 | g.3728781A= | CA2202928849 | CREBBP | c.6266T= (p.Ile2089=) c.6152T= (p.Ile2051=) c.6221T= (p.Ile2074=) c.5849T= (p.Ile1950=) c.6005T= (p.Ile2002=) c.6212T= (p.Ile2071=) c.5513T= (p.Ile1838=) c.6260T= (p.Ile2087=) | |
16 | g.3728781A>C | CA394553764 | CREBBP | c.6266T>G (p.Ile2089Ser) c.6152T>G (p.Ile2051Ser) c.6221T>G (p.Ile2074Ser) c.5849T>G (p.Ile1950Ser) c.6005T>G (p.Ile2002Ser) c.6212T>G (p.Ile2071Ser) c.5513T>G (p.Ile1838Ser) c.6260T>G (p.Ile2087Ser) | dbSNP |
16 | g.3728781A>G | CA394553765 | CREBBP | c.6266T>C (p.Ile2089Thr) c.6152T>C (p.Ile2051Thr) c.6221T>C (p.Ile2074Thr) c.5849T>C (p.Ile1950Thr) c.6005T>C (p.Ile2002Thr) c.6212T>C (p.Ile2071Thr) c.5513T>C (p.Ile1838Thr) c.6260T>C (p.Ile2087Thr) | dbSNP |
16 | g.3728781A>T | CA394553766 | CREBBP | c.6266T>A (p.Ile2089Asn) c.6152T>A (p.Ile2051Asn) c.6221T>A (p.Ile2074Asn) c.5849T>A (p.Ile1950Asn) c.6005T>A (p.Ile2002Asn) c.6212T>A (p.Ile2071Asn) c.5513T>A (p.Ile1838Asn) c.6260T>A (p.Ile2087Asn) | dbSNP |
16 | g.3728782T>A | CA394553768 | CREBBP | c.6265A>T (p.Ile2089Phe) c.6151A>T (p.Ile2051Phe) c.6220A>T (p.Ile2074Phe) c.5848A>T (p.Ile1950Phe) c.6004A>T (p.Ile2002Phe) c.6211A>T (p.Ile2071Phe) c.5512A>T (p.Ile1838Phe) c.6259A>T (p.Ile2087Phe) | ClinVar dbSNP |
16 | g.3728782T>C | CA394553769 | CREBBP | c.6265A>G (p.Ile2089Val) c.6151A>G (p.Ile2051Val) c.6220A>G (p.Ile2074Val) c.5848A>G (p.Ile1950Val) c.6004A>G (p.Ile2002Val) c.6211A>G (p.Ile2071Val) c.5512A>G (p.Ile1838Val) c.6259A>G (p.Ile2087Val) | dbSNP |
16 | g.3728782T>G | CA394553767 | CREBBP | c.6265A>C (p.Ile2089Leu) c.6151A>C (p.Ile2051Leu) c.6220A>C (p.Ile2074Leu) c.5848A>C (p.Ile1950Leu) c.6004A>C (p.Ile2002Leu) c.6211A>C (p.Ile2071Leu) c.5512A>C (p.Ile1838Leu) c.6259A>C (p.Ile2087Leu) | dbSNP |
16 | g.3728782T= | CA2202928850 | CREBBP | c.6265A= (p.Ile2089=) c.6151A= (p.Ile2051=) c.6220A= (p.Ile2074=) c.5848A= (p.Ile1950=) c.6004A= (p.Ile2002=) c.6211A= (p.Ile2071=) c.5512A= (p.Ile1838=) c.6259A= (p.Ile2087=) | |
16 | g.3728783G>A | CA493393663 | CREBBP | c.6264C>T (p.Asn2088=) c.6150C>T (p.Asn2050=) c.6219C>T (p.Asn2073=) c.5847C>T (p.Asn1949=) c.6003C>T (p.Asn2001=) c.6210C>T (p.Asn2070=) c.5511C>T (p.Asn1837=) c.6258C>T (p.Asn2086=) | dbSNP |
16 | g.3728783G>C | CA394553770 | CREBBP | c.6264C>G (p.Asn2088Lys) c.6150C>G (p.Asn2050Lys) c.6219C>G (p.Asn2073Lys) c.5847C>G (p.Asn1949Lys) c.6003C>G (p.Asn2001Lys) c.6210C>G (p.Asn2070Lys) c.5511C>G (p.Asn1837Lys) c.6258C>G (p.Asn2086Lys) | dbSNP |
16 | g.3728783G>T | CA394553771 | CREBBP | c.6264C>A (p.Asn2088Lys) c.6150C>A (p.Asn2050Lys) c.6219C>A (p.Asn2073Lys) c.5847C>A (p.Asn1949Lys) c.6003C>A (p.Asn2001Lys) c.6210C>A (p.Asn2070Lys) c.5511C>A (p.Asn1837Lys) c.6258C>A (p.Asn2086Lys) | |
16 | g.3728784T>A | CA394553772 | CREBBP | c.6263A>T (p.Asn2088Ile) c.6149A>T (p.Asn2050Ile) c.6218A>T (p.Asn2073Ile) c.5846A>T (p.Asn1949Ile) c.6002A>T (p.Asn2001Ile) c.6209A>T (p.Asn2070Ile) c.5510A>T (p.Asn1837Ile) c.6257A>T (p.Asn2086Ile) | dbSNP |
16 | g.3728784T>C | CA394553773 | CREBBP | c.6263A>G (p.Asn2088Ser) c.6149A>G (p.Asn2050Ser) c.6218A>G (p.Asn2073Ser) c.5846A>G (p.Asn1949Ser) c.6002A>G (p.Asn2001Ser) c.6209A>G (p.Asn2070Ser) c.5510A>G (p.Asn1837Ser) c.6257A>G (p.Asn2086Ser) | dbSNP |
16 | g.3728784T>G | CA394553774 | CREBBP | c.6263A>C (p.Asn2088Thr) c.6149A>C (p.Asn2050Thr) c.6218A>C (p.Asn2073Thr) c.5846A>C (p.Asn1949Thr) c.6002A>C (p.Asn2001Thr) c.6209A>C (p.Asn2070Thr) c.5510A>C (p.Asn1837Thr) c.6257A>C (p.Asn2086Thr) | dbSNP |
16 | g.3728785T>A | CA394553775 | CREBBP | c.6262A>T (p.Asn2088Tyr) c.6148A>T (p.Asn2050Tyr) c.6217A>T (p.Asn2073Tyr) c.5845A>T (p.Asn1949Tyr) c.6001A>T (p.Asn2001Tyr) c.6208A>T (p.Asn2070Tyr) c.5509A>T (p.Asn1837Tyr) c.6256A>T (p.Asn2086Tyr) | dbSNP |
16 | g.3728785T>C | CA394553776 | CREBBP | c.6262A>G (p.Asn2088Asp) c.6148A>G (p.Asn2050Asp) c.6217A>G (p.Asn2073Asp) c.5845A>G (p.Asn1949Asp) c.6001A>G (p.Asn2001Asp) c.6208A>G (p.Asn2070Asp) c.5509A>G (p.Asn1837Asp) c.6256A>G (p.Asn2086Asp) | dbSNP |
16 | g.3728785T>G | CA394553777 | CREBBP | c.6262A>C (p.Asn2088His) c.6148A>C (p.Asn2050His) c.6217A>C (p.Asn2073His) c.5845A>C (p.Asn1949His) c.6001A>C (p.Asn2001His) c.6208A>C (p.Asn2070His) c.5509A>C (p.Asn1837His) c.6256A>C (p.Asn2086His) | |
16 | g.3728786C>A | CA493393664 | CREBBP | c.6261G>T (p.Leu2087=) c.6147G>T (p.Leu2049=) c.6216G>T (p.Leu2072=) c.5844G>T (p.Leu1948=) c.6000G>T (p.Leu2000=) c.6207G>T (p.Leu2069=) c.5508G>T (p.Leu1836=) c.6255G>T (p.Leu2085=) | dbSNP |
16 | g.3728786C= | CA2202928851 | CREBBP | c.6261G= (p.Leu2087=) c.6147G= (p.Leu2049=) c.6216G= (p.Leu2072=) c.5844G= (p.Leu1948=) c.6000G= (p.Leu2000=) c.6207G= (p.Leu2069=) c.5508G= (p.Leu1836=) c.6255G= (p.Leu2085=) | |
16 | g.3728786C>G | CA493393665 | CREBBP | c.6261G>C (p.Leu2087=) c.6147G>C (p.Leu2049=) c.6216G>C (p.Leu2072=) c.5844G>C (p.Leu1948=) c.6000G>C (p.Leu2000=) c.6207G>C (p.Leu2069=) c.5508G>C (p.Leu1836=) c.6255G>C (p.Leu2085=) | dbSNP |
16 | g.3728786C>T | CA493393666 | CREBBP | c.6261G>A (p.Leu2087=) c.6147G>A (p.Leu2049=) c.6216G>A (p.Leu2072=) c.5844G>A (p.Leu1948=) c.6000G>A (p.Leu2000=) c.6207G>A (p.Leu2069=) c.5508G>A (p.Leu1836=) c.6255G>A (p.Leu2085=) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.3728787A>C | CA394553778 | CREBBP | c.6260T>G (p.Leu2087Arg) c.6146T>G (p.Leu2049Arg) c.6215T>G (p.Leu2072Arg) c.5843T>G (p.Leu1948Arg) c.5999T>G (p.Leu2000Arg) c.6206T>G (p.Leu2069Arg) c.5507T>G (p.Leu1836Arg) c.6254T>G (p.Leu2085Arg) | |
16 | g.3728787A>G | CA394553779 | CREBBP | c.6260T>C (p.Leu2087Pro) c.6146T>C (p.Leu2049Pro) c.6215T>C (p.Leu2072Pro) c.5843T>C (p.Leu1948Pro) c.5999T>C (p.Leu2000Pro) c.6206T>C (p.Leu2069Pro) c.5507T>C (p.Leu1836Pro) c.6254T>C (p.Leu2085Pro) | dbSNP |
16 | g.3728787A>T | CA394553780 | CREBBP | c.6260T>A (p.Leu2087Gln) c.6146T>A (p.Leu2049Gln) c.6215T>A (p.Leu2072Gln) c.5843T>A (p.Leu1948Gln) c.5999T>A (p.Leu2000Gln) c.6206T>A (p.Leu2069Gln) c.5507T>A (p.Leu1836Gln) c.6254T>A (p.Leu2085Gln) | dbSNP |
16 | g.3728788G>A | CA493393667 | CREBBP | c.6259C>T (p.Leu2087=) c.6145C>T (p.Leu2049=) c.6214C>T (p.Leu2072=) c.5842C>T (p.Leu1948=) c.5998C>T (p.Leu2000=) c.6205C>T (p.Leu2069=) c.5506C>T (p.Leu1836=) c.6253C>T (p.Leu2085=) | |
16 | g.3728788G>C | CA394553781 | CREBBP | c.6259C>G (p.Leu2087Val) c.6145C>G (p.Leu2049Val) c.6214C>G (p.Leu2072Val) c.5842C>G (p.Leu1948Val) c.5998C>G (p.Leu2000Val) c.6205C>G (p.Leu2069Val) c.5506C>G (p.Leu1836Val) c.6253C>G (p.Leu2085Val) | dbSNP |
16 | g.3728788G>T | CA394553782 | CREBBP | c.6259C>A (p.Leu2087Met) c.6145C>A (p.Leu2049Met) c.6214C>A (p.Leu2072Met) c.5842C>A (p.Leu1948Met) c.5998C>A (p.Leu2000Met) c.6205C>A (p.Leu2069Met) c.5506C>A (p.Leu1836Met) c.6253C>A (p.Leu2085Met) | |
16 | g.3728789C>A | CA493393668 | CREBBP | c.6258G>T (p.Val2086=) c.6144G>T (p.Val2048=) c.6213G>T (p.Val2071=) c.5841G>T (p.Val1947=) c.5997G>T (p.Val1999=) c.6204G>T (p.Val2068=) c.5505G>T (p.Val1835=) c.6252G>T (p.Val2084=) | dbSNP |
16 | g.3728789C>G | CA493393669 | CREBBP | c.6258G>C (p.Val2086=) c.6144G>C (p.Val2048=) c.6213G>C (p.Val2071=) c.5841G>C (p.Val1947=) c.5997G>C (p.Val1999=) c.6204G>C (p.Val2068=) c.5505G>C (p.Val1835=) c.6252G>C (p.Val2084=) | dbSNP |
16 | g.3728789C>T | CA493393670 | CREBBP | c.6258G>A (p.Val2086=) c.6144G>A (p.Val2048=) c.6213G>A (p.Val2071=) c.5841G>A (p.Val1947=) c.5997G>A (p.Val1999=) c.6204G>A (p.Val2068=) c.5505G>A (p.Val1835=) c.6252G>A (p.Val2084=) | dbSNP gnomAD v4 |
16 | g.3728790A>C | CA394553785 | CREBBP | c.6257T>G (p.Val2086Gly) c.6143T>G (p.Val2048Gly) c.6212T>G (p.Val2071Gly) c.5840T>G (p.Val1947Gly) c.5996T>G (p.Val1999Gly) c.6203T>G (p.Val2068Gly) c.5504T>G (p.Val1835Gly) c.6251T>G (p.Val2084Gly) | dbSNP |
16 | g.3728790A>G | CA394553784 | CREBBP | c.6257T>C (p.Val2086Ala) c.6143T>C (p.Val2048Ala) c.6212T>C (p.Val2071Ala) c.5840T>C (p.Val1947Ala) c.5996T>C (p.Val1999Ala) c.6203T>C (p.Val2068Ala) c.5504T>C (p.Val1835Ala) c.6251T>C (p.Val2084Ala) | dbSNP gnomAD v4 |
16 | g.3728790A>T | CA394553783 | CREBBP | c.6257T>A (p.Val2086Glu) c.6143T>A (p.Val2048Glu) c.6212T>A (p.Val2071Glu) c.5840T>A (p.Val1947Glu) c.5996T>A (p.Val1999Glu) c.6203T>A (p.Val2068Glu) c.5504T>A (p.Val1835Glu) c.6251T>A (p.Val2084Glu) | dbSNP |
16 | g.3728791C>A | CA394553786 | CREBBP | c.6256G>T (p.Val2086Leu) c.6142G>T (p.Val2048Leu) c.6211G>T (p.Val2071Leu) c.5839G>T (p.Val1947Leu) c.5995G>T (p.Val1999Leu) c.6202G>T (p.Val2068Leu) c.5503G>T (p.Val1835Leu) c.6250G>T (p.Val2084Leu) | |
16 | g.3728791C>G | CA394553787 | CREBBP | c.6256G>C (p.Val2086Leu) c.6142G>C (p.Val2048Leu) c.6211G>C (p.Val2071Leu) c.5839G>C (p.Val1947Leu) c.5995G>C (p.Val1999Leu) c.6202G>C (p.Val2068Leu) c.5503G>C (p.Val1835Leu) c.6250G>C (p.Val2084Leu) | |
16 | g.3728791C>T | CA394553788 | CREBBP | c.6256G>A (p.Val2086Met) c.6142G>A (p.Val2048Met) c.6211G>A (p.Val2071Met) c.5839G>A (p.Val1947Met) c.5995G>A (p.Val1999Met) c.6202G>A (p.Val2068Met) c.5503G>A (p.Val1835Met) c.6250G>A (p.Val2084Met) | dbSNP |
16 | g.3728791_3728792dup | CA2805632986 | CREBBP | c.6255_6256dup (p.Val2086GlyfsTer3) c.6141_6142dup (p.Val2048GlyfsTer3) c.6210_6211dup (p.Val2071GlyfsTer3) c.5838_5839dup (p.Val1947GlyfsTer3) c.5994_5995dup (p.Val1999GlyfsTer3) c.6201_6202dup (p.Val2068GlyfsTer3) c.5502_5503dup (p.Val1835GlyfsTer3) c.6249_6250dup (p.Val2084GlyfsTer3) | |
16 | g.3728792C>A | CA394553789 | CREBBP | c.6255G>T (p.Gln2085His) c.6141G>T (p.Gln2047His) c.6210G>T (p.Gln2070His) c.5838G>T (p.Gln1946His) c.5994G>T (p.Gln1998His) c.6201G>T (p.Gln2067His) c.5502G>T (p.Gln1834His) c.6249G>T (p.Gln2083His) | |
16 | g.3728792C= | CA2202928852 | CREBBP | c.6255G= (p.Gln2085=) c.6141G= (p.Gln2047=) c.6210G= (p.Gln2070=) c.5838G= (p.Gln1946=) c.5994G= (p.Gln1998=) c.6201G= (p.Gln2067=) c.5502G= (p.Gln1834=) c.6249G= (p.Gln2083=) | |
16 | g.3728792C>G | CA394553790 | CREBBP | c.6255G>C (p.Gln2085His) c.6141G>C (p.Gln2047His) c.6210G>C (p.Gln2070His) c.5838G>C (p.Gln1946His) c.5994G>C (p.Gln1998His) c.6201G>C (p.Gln2067His) c.5502G>C (p.Gln1834His) c.6249G>C (p.Gln2083His) | |
16 | g.3728792C>T | CA7869152 | CREBBP | c.6255G>A (p.Gln2085=) c.6141G>A (p.Gln2047=) c.6210G>A (p.Gln2070=) c.5838G>A (p.Gln1946=) c.5994G>A (p.Gln1998=) c.6201G>A (p.Gln2067=) c.5502G>A (p.Gln1834=) c.6249G>A (p.Gln2083=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.3728793T>A | CA394553791 | CREBBP | c.6254A>T (p.Gln2085Leu) c.6140A>T (p.Gln2047Leu) c.6209A>T (p.Gln2070Leu) c.5837A>T (p.Gln1946Leu) c.5993A>T (p.Gln1998Leu) c.6200A>T (p.Gln2067Leu) c.5501A>T (p.Gln1834Leu) c.6248A>T (p.Gln2083Leu) | dbSNP |
16 | g.3728793T>C | CA394553792 | CREBBP | c.6254A>G (p.Gln2085Arg) c.6140A>G (p.Gln2047Arg) c.6209A>G (p.Gln2070Arg) c.5837A>G (p.Gln1946Arg) c.5993A>G (p.Gln1998Arg) c.6200A>G (p.Gln2067Arg) c.5501A>G (p.Gln1834Arg) c.6248A>G (p.Gln2083Arg) | dbSNP |
16 | g.3728793T>G | CA394553793 | CREBBP | c.6254A>C (p.Gln2085Pro) c.6140A>C (p.Gln2047Pro) c.6209A>C (p.Gln2070Pro) c.5837A>C (p.Gln1946Pro) c.5993A>C (p.Gln1998Pro) c.6200A>C (p.Gln2067Pro) c.5501A>C (p.Gln1834Pro) c.6248A>C (p.Gln2083Pro) | |
16 | g.3728794G>A | CA394553794 | CREBBP | c.6253C>T (p.Gln2085Ter) c.6139C>T (p.Gln2047Ter) c.6208C>T (p.Gln2070Ter) c.5836C>T (p.Gln1946Ter) c.5992C>T (p.Gln1998Ter) c.6199C>T (p.Gln2067Ter) c.5500C>T (p.Gln1834Ter) c.6247C>T (p.Gln2083Ter) | dbSNP COSMIC |
16 | g.3728794G>C | CA394553795 | CREBBP | c.6253C>G (p.Gln2085Glu) c.6139C>G (p.Gln2047Glu) c.6208C>G (p.Gln2070Glu) c.5836C>G (p.Gln1946Glu) c.5992C>G (p.Gln1998Glu) c.6199C>G (p.Gln2067Glu) c.5500C>G (p.Gln1834Glu) c.6247C>G (p.Gln2083Glu) | dbSNP |
16 | g.3728794G>T | CA394553796 | CREBBP | c.6253C>A (p.Gln2085Lys) c.6139C>A (p.Gln2047Lys) c.6208C>A (p.Gln2070Lys) c.5836C>A (p.Gln1946Lys) c.5992C>A (p.Gln1998Lys) c.6199C>A (p.Gln2067Lys) c.5500C>A (p.Gln1834Lys) c.6247C>A (p.Gln2083Lys) | dbSNP |
16 | g.3728795C>A | CA394553797 | CREBBP | c.6252G>T (p.Gln2084His) c.6138G>T (p.Gln2046His) c.6207G>T (p.Gln2069His) c.5835G>T (p.Gln1945His) c.5991G>T (p.Gln1997His) c.6198G>T (p.Gln2066His) c.5499G>T (p.Gln1833His) c.6246G>T (p.Gln2082His) | dbSNP |
16 | g.3728795C= | CA2202928853 | CREBBP | c.6252G= (p.Gln2084=) c.6138G= (p.Gln2046=) c.6207G= (p.Gln2069=) c.5835G= (p.Gln1945=) c.5991G= (p.Gln1997=) c.6198G= (p.Gln2066=) c.5499G= (p.Gln1833=) c.6246G= (p.Gln2082=) | |
16 | g.3728795C>G | CA394553798 | CREBBP | c.6252G>C (p.Gln2084His) c.6138G>C (p.Gln2046His) c.6207G>C (p.Gln2069His) c.5835G>C (p.Gln1945His) c.5991G>C (p.Gln1997His) c.6198G>C (p.Gln2066His) c.5499G>C (p.Gln1833His) c.6246G>C (p.Gln2082His) | dbSNP |
16 | g.3728795C>T | CA493393671 | CREBBP | c.6252G>A (p.Gln2084=) c.6138G>A (p.Gln2046=) c.6207G>A (p.Gln2069=) c.5835G>A (p.Gln1945=) c.5991G>A (p.Gln1997=) c.6198G>A (p.Gln2066=) c.5499G>A (p.Gln1833=) c.6246G>A (p.Gln2082=) | dbSNP gnomAD v4 |
16 | g.3728796T>A | CA394553800 | CREBBP | c.6251A>T (p.Gln2084Leu) c.6137A>T (p.Gln2046Leu) c.6206A>T (p.Gln2069Leu) c.5834A>T (p.Gln1945Leu) c.5990A>T (p.Gln1997Leu) c.6197A>T (p.Gln2066Leu) c.5498A>T (p.Gln1833Leu) c.6245A>T (p.Gln2082Leu) | dbSNP |
16 | g.3728796T>C | CA394553801 | CREBBP | c.6251A>G (p.Gln2084Arg) c.6137A>G (p.Gln2046Arg) c.6206A>G (p.Gln2069Arg) c.5834A>G (p.Gln1945Arg) c.5990A>G (p.Gln1997Arg) c.6197A>G (p.Gln2066Arg) c.5498A>G (p.Gln1833Arg) c.6245A>G (p.Gln2082Arg) | |
16 | g.3728796T>G | CA394553799 | CREBBP | c.6251A>C (p.Gln2084Pro) c.6137A>C (p.Gln2046Pro) c.6206A>C (p.Gln2069Pro) c.5834A>C (p.Gln1945Pro) c.5990A>C (p.Gln1997Pro) c.6197A>C (p.Gln2066Pro) c.5498A>C (p.Gln1833Pro) c.6245A>C (p.Gln2082Pro) | |
16 | g.3728797del | CA2695222737 | CREBBP | c.6250del (p.Gln2084SerfsTer4) c.6136del (p.Gln2046SerfsTer4) c.6205del (p.Gln2069SerfsTer4) c.5833del (p.Gln1945SerfsTer4) c.5989del (p.Gln1997SerfsTer4) c.6196del (p.Gln2066SerfsTer4) c.5497del (p.Gln1833SerfsTer4) c.6244del (p.Gln2082SerfsTer4) | |
16 | g.3728797G>A | CA394553802 | CREBBP | c.6250C>T (p.Gln2084Ter) c.6136C>T (p.Gln2046Ter) c.6205C>T (p.Gln2069Ter) c.5833C>T (p.Gln1945Ter) c.5989C>T (p.Gln1997Ter) c.6196C>T (p.Gln2066Ter) c.5497C>T (p.Gln1833Ter) c.6244C>T (p.Gln2082Ter) | ClinVar dbSNP |
16 | g.3728797G>C | CA394553803 | CREBBP | c.6250C>G (p.Gln2084Glu) c.6136C>G (p.Gln2046Glu) c.6205C>G (p.Gln2069Glu) c.5833C>G (p.Gln1945Glu) c.5989C>G (p.Gln1997Glu) c.6196C>G (p.Gln2066Glu) c.5497C>G (p.Gln1833Glu) c.6244C>G (p.Gln2082Glu) | dbSNP |
16 | g.3728797G= | CA2202928854 | CREBBP | c.6250C= (p.Gln2084=) c.6136C= (p.Gln2046=) c.6205C= (p.Gln2069=) c.5833C= (p.Gln1945=) c.5989C= (p.Gln1997=) c.6196C= (p.Gln2066=) c.5497C= (p.Gln1833=) c.6244C= (p.Gln2082=) | |
16 | g.3728797G>T | CA394553804 | CREBBP | c.6250C>A (p.Gln2084Lys) c.6136C>A (p.Gln2046Lys) c.6205C>A (p.Gln2069Lys) c.5833C>A (p.Gln1945Lys) c.5989C>A (p.Gln1997Lys) c.6196C>A (p.Gln2066Lys) c.5497C>A (p.Gln1833Lys) c.6244C>A (p.Gln2082Lys) | |
16 | g.3728798T>A | CA394553805 | CREBBP | c.6249A>T (p.Gln2083His) c.6135A>T (p.Gln2045His) c.6204A>T (p.Gln2068His) c.5832A>T (p.Gln1944His) c.5988A>T (p.Gln1996His) c.6195A>T (p.Gln2065His) c.5496A>T (p.Gln1832His) c.6243A>T (p.Gln2081His) | |
16 | g.3728798T>C | CA493393672 | CREBBP | c.6249A>G (p.Gln2083=) c.6135A>G (p.Gln2045=) c.6204A>G (p.Gln2068=) c.5832A>G (p.Gln1944=) c.5988A>G (p.Gln1996=) c.6195A>G (p.Gln2065=) c.5496A>G (p.Gln1832=) c.6243A>G (p.Gln2081=) | gnomAD v4 |
16 | g.3728798T>G | CA394553806 | CREBBP | c.6249A>C (p.Gln2083His) c.6135A>C (p.Gln2045His) c.6204A>C (p.Gln2068His) c.5832A>C (p.Gln1944His) c.5988A>C (p.Gln1996His) c.6195A>C (p.Gln2065His) c.5496A>C (p.Gln1832His) c.6243A>C (p.Gln2081His) | |
16 | g.3728799T>A | CA394553807 | CREBBP | c.6248A>T (p.Gln2083Leu) c.6134A>T (p.Gln2045Leu) c.6203A>T (p.Gln2068Leu) c.5831A>T (p.Gln1944Leu) c.5987A>T (p.Gln1996Leu) c.6194A>T (p.Gln2065Leu) c.5495A>T (p.Gln1832Leu) c.6242A>T (p.Gln2081Leu) | dbSNP |
16 | g.3728799T>C | CA394553808 | CREBBP | c.6248A>G (p.Gln2083Arg) c.6134A>G (p.Gln2045Arg) c.6203A>G (p.Gln2068Arg) c.5831A>G (p.Gln1944Arg) c.5987A>G (p.Gln1996Arg) c.6194A>G (p.Gln2065Arg) c.5495A>G (p.Gln1832Arg) c.6242A>G (p.Gln2081Arg) | |
16 | g.3728799T>G | CA394553809 | CREBBP | c.6248A>C (p.Gln2083Pro) c.6134A>C (p.Gln2045Pro) c.6203A>C (p.Gln2068Pro) c.5831A>C (p.Gln1944Pro) c.5987A>C (p.Gln1996Pro) c.6194A>C (p.Gln2065Pro) c.5495A>C (p.Gln1832Pro) c.6242A>C (p.Gln2081Pro) | dbSNP |
16 | g.3728800G>A | CA394553810 | CREBBP | c.6247C>T (p.Gln2083Ter) c.6133C>T (p.Gln2045Ter) c.6202C>T (p.Gln2068Ter) c.5830C>T (p.Gln1944Ter) c.5986C>T (p.Gln1996Ter) c.6193C>T (p.Gln2065Ter) c.5494C>T (p.Gln1832Ter) c.6241C>T (p.Gln2081Ter) | dbSNP |
16 | g.3728800G>C | CA394553811 | CREBBP | c.6247C>G (p.Gln2083Glu) c.6133C>G (p.Gln2045Glu) c.6202C>G (p.Gln2068Glu) c.5830C>G (p.Gln1944Glu) c.5986C>G (p.Gln1996Glu) c.6193C>G (p.Gln2065Glu) c.5494C>G (p.Gln1832Glu) c.6241C>G (p.Gln2081Glu) | dbSNP |
16 | g.3728800G>T | CA394553812 | CREBBP | c.6247C>A (p.Gln2083Lys) c.6133C>A (p.Gln2045Lys) c.6202C>A (p.Gln2068Lys) c.5830C>A (p.Gln1944Lys) c.5986C>A (p.Gln1996Lys) c.6193C>A (p.Gln2065Lys) c.5494C>A (p.Gln1832Lys) c.6241C>A (p.Gln2081Lys) | |
16 | g.3728801C>A | CA394553813 | CREBBP | c.6246G>T (p.Gln2082His) c.6132G>T (p.Gln2044His) c.6201G>T (p.Gln2067His) c.5829G>T (p.Gln1943His) c.5985G>T (p.Gln1995His) c.6192G>T (p.Gln2064His) c.5493G>T (p.Gln1831His) c.6240G>T (p.Gln2080His) | dbSNP |
16 | g.3728801C= | CA2202928855 | CREBBP | c.6246G= (p.Gln2082=) c.6132G= (p.Gln2044=) c.6201G= (p.Gln2067=) c.5829G= (p.Gln1943=) c.5985G= (p.Gln1995=) c.6192G= (p.Gln2064=) c.5493G= (p.Gln1831=) c.6240G= (p.Gln2080=) | |
16 | g.3728801C>G | CA394553814 | CREBBP | c.6246G>C (p.Gln2082His) c.6132G>C (p.Gln2044His) c.6201G>C (p.Gln2067His) c.5829G>C (p.Gln1943His) c.5985G>C (p.Gln1995His) c.6192G>C (p.Gln2064His) c.5493G>C (p.Gln1831His) c.6240G>C (p.Gln2080His) | dbSNP |
16 | g.3728801C>T | CA493393673 | CREBBP | c.6246G>A (p.Gln2082=) c.6132G>A (p.Gln2044=) c.6201G>A (p.Gln2067=) c.5829G>A (p.Gln1943=) c.5985G>A (p.Gln1995=) c.6192G>A (p.Gln2064=) c.5493G>A (p.Gln1831=) c.6240G>A (p.Gln2080=) | dbSNP gnomAD v2 |
16 | g.3728802T>A | CA394553817 | CREBBP | c.6245A>T (p.Gln2082Leu) c.6131A>T (p.Gln2044Leu) c.6200A>T (p.Gln2067Leu) c.5828A>T (p.Gln1943Leu) c.5984A>T (p.Gln1995Leu) c.6191A>T (p.Gln2064Leu) c.5492A>T (p.Gln1831Leu) c.6239A>T (p.Gln2080Leu) | dbSNP |
16 | g.3728802T>C | CA394553815 | CREBBP | c.6245A>G (p.Gln2082Arg) c.6131A>G (p.Gln2044Arg) c.6200A>G (p.Gln2067Arg) c.5828A>G (p.Gln1943Arg) c.5984A>G (p.Gln1995Arg) c.6191A>G (p.Gln2064Arg) c.5492A>G (p.Gln1831Arg) c.6239A>G (p.Gln2080Arg) | gnomAD v4 |
16 | g.3728802T>G | CA394553816 | CREBBP | c.6245A>C (p.Gln2082Pro) c.6131A>C (p.Gln2044Pro) c.6200A>C (p.Gln2067Pro) c.5828A>C (p.Gln1943Pro) c.5984A>C (p.Gln1995Pro) c.6191A>C (p.Gln2064Pro) c.5492A>C (p.Gln1831Pro) c.6239A>C (p.Gln2080Pro) | |
16 | g.3728803G>A | CA16043513 | CREBBP | c.6244C>T (p.Gln2082Ter) c.6130C>T (p.Gln2044Ter) c.6199C>T (p.Gln2067Ter) c.5827C>T (p.Gln1943Ter) c.5983C>T (p.Gln1995Ter) c.6190C>T (p.Gln2064Ter) c.5491C>T (p.Gln1831Ter) c.6238C>T (p.Gln2080Ter) | ClinVar dbSNP |
16 | g.3728803G>C | CA394553818 | CREBBP | c.6244C>G (p.Gln2082Glu) c.6130C>G (p.Gln2044Glu) c.6199C>G (p.Gln2067Glu) c.5827C>G (p.Gln1943Glu) c.5983C>G (p.Gln1995Glu) c.6190C>G (p.Gln2064Glu) c.5491C>G (p.Gln1831Glu) c.6238C>G (p.Gln2080Glu) | dbSNP |
16 | g.3728803G= | CA2202928856 | CREBBP | c.6244C= (p.Gln2082=) c.6130C= (p.Gln2044=) c.6199C= (p.Gln2067=) c.5827C= (p.Gln1943=) c.5983C= (p.Gln1995=) c.6190C= (p.Gln2064=) c.5491C= (p.Gln1831=) c.6238C= (p.Gln2080=) | |
16 | g.3728803G>T | CA394553819 | CREBBP | c.6244C>A (p.Gln2082Lys) c.6130C>A (p.Gln2044Lys) c.6199C>A (p.Gln2067Lys) c.5827C>A (p.Gln1943Lys) c.5983C>A (p.Gln1995Lys) c.6190C>A (p.Gln2064Lys) c.5491C>A (p.Gln1831Lys) c.6238C>A (p.Gln2080Lys) | dbSNP |
16 | g.3728804C>A | CA394553820 | CREBBP | c.6243G>T (p.Gln2081His) c.6129G>T (p.Gln2043His) c.6198G>T (p.Gln2066His) c.5826G>T (p.Gln1942His) c.5982G>T (p.Gln1994His) c.6189G>T (p.Gln2063His) c.5490G>T (p.Gln1830His) c.6237G>T (p.Gln2079His) | dbSNP |
16 | g.3728804C>G | CA394553821 | CREBBP | c.6243G>C (p.Gln2081His) c.6129G>C (p.Gln2043His) c.6198G>C (p.Gln2066His) c.5826G>C (p.Gln1942His) c.5982G>C (p.Gln1994His) c.6189G>C (p.Gln2063His) c.5490G>C (p.Gln1830His) c.6237G>C (p.Gln2079His) | dbSNP |
16 | g.3728804C>T | CA493393674 | CREBBP | c.6243G>A (p.Gln2081=) c.6129G>A (p.Gln2043=) c.6198G>A (p.Gln2066=) c.5826G>A (p.Gln1942=) c.5982G>A (p.Gln1994=) c.6189G>A (p.Gln2063=) c.5490G>A (p.Gln1830=) c.6237G>A (p.Gln2079=) | dbSNP |
16 | g.3728805T>A | CA394553822 | CREBBP | c.6242A>T (p.Gln2081Leu) c.6128A>T (p.Gln2043Leu) c.6197A>T (p.Gln2066Leu) c.5825A>T (p.Gln1942Leu) c.5981A>T (p.Gln1994Leu) c.6188A>T (p.Gln2063Leu) c.5489A>T (p.Gln1830Leu) c.6236A>T (p.Gln2079Leu) | dbSNP |
16 | g.3728805T>C | CA394553823 | CREBBP | c.6242A>G (p.Gln2081Arg) c.6128A>G (p.Gln2043Arg) c.6197A>G (p.Gln2066Arg) c.5825A>G (p.Gln1942Arg) c.5981A>G (p.Gln1994Arg) c.6188A>G (p.Gln2063Arg) c.5489A>G (p.Gln1830Arg) c.6236A>G (p.Gln2079Arg) | dbSNP |
16 | g.3728805T>G | CA394553824 | CREBBP | c.6242A>C (p.Gln2081Pro) c.6128A>C (p.Gln2043Pro) c.6197A>C (p.Gln2066Pro) c.5825A>C (p.Gln1942Pro) c.5981A>C (p.Gln1994Pro) c.6188A>C (p.Gln2063Pro) c.5489A>C (p.Gln1830Pro) c.6236A>C (p.Gln2079Pro) | |
16 | g.3728806G>A | CA10603392 | CREBBP | c.6241C>T (p.Gln2081Ter) c.6127C>T (p.Gln2043Ter) c.6196C>T (p.Gln2066Ter) c.5824C>T (p.Gln1942Ter) c.5980C>T (p.Gln1994Ter) c.6187C>T (p.Gln2063Ter) c.5488C>T (p.Gln1830Ter) c.6235C>T (p.Gln2079Ter) | ClinVar dbSNP |
16 | g.3728806G>C | CA394553825 | CREBBP | c.6241C>G (p.Gln2081Glu) c.6127C>G (p.Gln2043Glu) c.6196C>G (p.Gln2066Glu) c.5824C>G (p.Gln1942Glu) c.5980C>G (p.Gln1994Glu) c.6187C>G (p.Gln2063Glu) c.5488C>G (p.Gln1830Glu) c.6235C>G (p.Gln2079Glu) | dbSNP |
16 | g.3728806G= | CA2202928857 | CREBBP | c.6241C= (p.Gln2081=) c.6127C= (p.Gln2043=) c.6196C= (p.Gln2066=) c.5824C= (p.Gln1942=) c.5980C= (p.Gln1994=) c.6187C= (p.Gln2063=) c.5488C= (p.Gln1830=) c.6235C= (p.Gln2079=) | |
16 | g.3728806G>T | CA394553826 | CREBBP | c.6241C>A (p.Gln2081Lys) c.6127C>A (p.Gln2043Lys) c.6196C>A (p.Gln2066Lys) c.5824C>A (p.Gln1942Lys) c.5980C>A (p.Gln1994Lys) c.6187C>A (p.Gln2063Lys) c.5488C>A (p.Gln1830Lys) c.6235C>A (p.Gln2079Lys) | |
16 | g.3728807A>C | CA493393675 | CREBBP | c.6240T>G (p.Pro2080=) c.6126T>G (p.Pro2042=) c.6195T>G (p.Pro2065=) c.5823T>G (p.Pro1941=) c.5979T>G (p.Pro1993=) c.6186T>G (p.Pro2062=) c.5487T>G (p.Pro1829=) c.6234T>G (p.Pro2078=) | |
16 | g.3728807A>G | CA493393676 | CREBBP | c.6240T>C (p.Pro2080=) c.6126T>C (p.Pro2042=) c.6195T>C (p.Pro2065=) c.5823T>C (p.Pro1941=) c.5979T>C (p.Pro1993=) c.6186T>C (p.Pro2062=) c.5487T>C (p.Pro1829=) c.6234T>C (p.Pro2078=) | gnomAD v4 |
16 | g.3728807A>T | CA493393677 | CREBBP | c.6240T>A (p.Pro2080=) c.6126T>A (p.Pro2042=) c.6195T>A (p.Pro2065=) c.5823T>A (p.Pro1941=) c.5979T>A (p.Pro1993=) c.6186T>A (p.Pro2062=) c.5487T>A (p.Pro1829=) c.6234T>A (p.Pro2078=) | gnomAD v4 |
16 | g.3728808G>A | CA394553827 | CREBBP | c.6239C>T (p.Pro2080Leu) c.6125C>T (p.Pro2042Leu) c.6194C>T (p.Pro2065Leu) c.5822C>T (p.Pro1941Leu) c.5978C>T (p.Pro1993Leu) c.6185C>T (p.Pro2062Leu) c.5486C>T (p.Pro1829Leu) c.6233C>T (p.Pro2078Leu) | dbSNP gnomAD v4 |
16 | g.3728808G>C | CA394553829 | CREBBP | c.6239C>G (p.Pro2080Arg) c.6125C>G (p.Pro2042Arg) c.6194C>G (p.Pro2065Arg) c.5822C>G (p.Pro1941Arg) c.5978C>G (p.Pro1993Arg) c.6185C>G (p.Pro2062Arg) c.5486C>G (p.Pro1829Arg) c.6233C>G (p.Pro2078Arg) | |
16 | g.3728808G>T | CA394553828 | CREBBP | c.6239C>A (p.Pro2080His) c.6125C>A (p.Pro2042His) c.6194C>A (p.Pro2065His) c.5822C>A (p.Pro1941His) c.5978C>A (p.Pro1993His) c.6185C>A (p.Pro2062His) c.5486C>A (p.Pro1829His) c.6233C>A (p.Pro2078His) | dbSNP |
16 | g.3728811del | CA2840860804 | CREBBP | c.6239del (p.Pro2080LeufsTer8) c.6125del (p.Pro2042LeufsTer8) c.6194del (p.Pro2065LeufsTer8) c.5822del (p.Pro1941LeufsTer8) c.5978del (p.Pro1993LeufsTer8) c.6185del (p.Pro2062LeufsTer8) c.5486del (p.Pro1829LeufsTer8) c.6233del (p.Pro2078LeufsTer8) | |
16 | g.3728810_3728811del | CA2580091133 | CREBBP | c.6238_6239del (p.Pro2080SerfsTer?) c.6124_6125del (p.Pro2042SerfsTer?) c.6193_6194del (p.Pro2065SerfsTer?) c.5821_5822del (p.Pro1941SerfsTer?) c.5977_5978del (p.Pro1993SerfsTer?) c.6184_6185del (p.Pro2062SerfsTer?) c.5485_5486del (p.Pro1829SerfsTer?) c.6232_6233del (p.Pro2078SerfsTer?) | ClinVar |
16 | g.3728809G>A | CA394553830 | CREBBP | c.6238C>T (p.Pro2080Ser) c.6124C>T (p.Pro2042Ser) c.6193C>T (p.Pro2065Ser) c.5821C>T (p.Pro1941Ser) c.5977C>T (p.Pro1993Ser) c.6184C>T (p.Pro2062Ser) c.5485C>T (p.Pro1829Ser) c.6232C>T (p.Pro2078Ser) | dbSNP |
16 | g.3728809G>C | CA394553832 | CREBBP | c.6238C>G (p.Pro2080Ala) c.6124C>G (p.Pro2042Ala) c.6193C>G (p.Pro2065Ala) c.5821C>G (p.Pro1941Ala) c.5977C>G (p.Pro1993Ala) c.6184C>G (p.Pro2062Ala) c.5485C>G (p.Pro1829Ala) c.6232C>G (p.Pro2078Ala) | dbSNP |
16 | g.3728809G= | CA2202928858 | CREBBP | c.6238C= (p.Pro2080=) c.6124C= (p.Pro2042=) c.6193C= (p.Pro2065=) c.5821C= (p.Pro1941=) c.5977C= (p.Pro1993=) c.6184C= (p.Pro2062=) c.5485C= (p.Pro1829=) c.6232C= (p.Pro2078=) | |
16 | g.3728809G>T | CA394553831 | CREBBP | c.6238C>A (p.Pro2080Thr) c.6124C>A (p.Pro2042Thr) c.6193C>A (p.Pro2065Thr) c.5821C>A (p.Pro1941Thr) c.5977C>A (p.Pro1993Thr) c.6184C>A (p.Pro2062Thr) c.5485C>A (p.Pro1829Thr) c.6232C>A (p.Pro2078Thr) | dbSNP gnomAD v2 gnomAD v4 |