Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.3728851_3728862delinsCGCTGGGTGAGA | CA2202928876 | CREBBP | c.6185_6196delinsTCTCACCCAGCG (p.Ile2062=) c.6071_6082delinsTCTCACCCAGCG (p.Ile2024=) c.6140_6151delinsTCTCACCCAGCG (p.Ile2047=) c.5768_5779delinsTCTCACCCAGCG (p.Ile1923=) c.5924_5935delinsTCTCACCCAGCG (p.Ile1975=) c.6131_6142delinsTCTCACCCAGCG (p.Ile2044=) c.5432_5443delinsTCTCACCCAGCG (p.Ile1811=) c.6179_6190delinsTCTCACCCAGCG (p.Ile2060=) | |
16 | g.3728852_3728862del | CA658798525 | CREBBP | c.6185_6195del (p.Ile2062SerfsTer?) c.6071_6081del (p.Ile2024SerfsTer?) c.6140_6150del (p.Ile2047SerfsTer?) c.5768_5778del (p.Ile1923SerfsTer?) c.5924_5934del (p.Ile1975SerfsTer?) c.6131_6141del (p.Ile2044SerfsTer?) c.5432_5442del (p.Ile1811SerfsTer?) c.6179_6189del (p.Ile2060SerfsTer?) | ClinVar dbSNP |
16 | g.3728857del | CA2695222739 | CREBBP | c.6192del (p.Ser2065AlafsTer10) c.6078del (p.Ser2027AlafsTer10) c.6147del (p.Ser2050AlafsTer10) c.5775del (p.Ser1926AlafsTer10) c.5931del (p.Ser1978AlafsTer10) c.6138del (p.Ser2047AlafsTer10) c.5439del (p.Ser1814AlafsTer10) c.6186del (p.Ser2063AlafsTer10) | |
16 | g.3728856G>A | CA394553926 | CREBBP | c.6191C>T (p.Pro2064Leu) c.6077C>T (p.Pro2026Leu) c.6146C>T (p.Pro2049Leu) c.5774C>T (p.Pro1925Leu) c.5930C>T (p.Pro1977Leu) c.6137C>T (p.Pro2046Leu) c.5438C>T (p.Pro1813Leu) c.6185C>T (p.Pro2062Leu) | dbSNP |
16 | g.3728856G>C | CA394553927 | CREBBP | c.6191C>G (p.Pro2064Arg) c.6077C>G (p.Pro2026Arg) c.6146C>G (p.Pro2049Arg) c.5774C>G (p.Pro1925Arg) c.5930C>G (p.Pro1977Arg) c.6137C>G (p.Pro2046Arg) c.5438C>G (p.Pro1813Arg) c.6185C>G (p.Pro2062Arg) | dbSNP |
16 | g.3728856G>T | CA394553928 | CREBBP | c.6191C>A (p.Pro2064His) c.6077C>A (p.Pro2026His) c.6146C>A (p.Pro2049His) c.5774C>A (p.Pro1925His) c.5930C>A (p.Pro1977His) c.6137C>A (p.Pro2046His) c.5438C>A (p.Pro1813His) c.6185C>A (p.Pro2062His) | dbSNP gnomAD v4 |
16 | g.3728857G>A | CA394553929 | CREBBP | c.6190C>T (p.Pro2064Ser) c.6076C>T (p.Pro2026Ser) c.6145C>T (p.Pro2049Ser) c.5773C>T (p.Pro1925Ser) c.5929C>T (p.Pro1977Ser) c.6136C>T (p.Pro2046Ser) c.5437C>T (p.Pro1813Ser) c.6184C>T (p.Pro2062Ser) | dbSNP |
16 | g.3728857G>C | CA394553930 | CREBBP | c.6190C>G (p.Pro2064Ala) c.6076C>G (p.Pro2026Ala) c.6145C>G (p.Pro2049Ala) c.5773C>G (p.Pro1925Ala) c.5929C>G (p.Pro1977Ala) c.6136C>G (p.Pro2046Ala) c.5437C>G (p.Pro1813Ala) c.6184C>G (p.Pro2062Ala) | dbSNP |
16 | g.3728857G= | CA2202928879 | CREBBP | c.6190C= (p.Pro2064=) c.6076C= (p.Pro2026=) c.6145C= (p.Pro2049=) c.5773C= (p.Pro1925=) c.5929C= (p.Pro1977=) c.6136C= (p.Pro2046=) c.5437C= (p.Pro1813=) c.6184C= (p.Pro2062=) | |
16 | g.3728857G>T | CA7869163 | CREBBP | c.6190C>A (p.Pro2064Thr) c.6076C>A (p.Pro2026Thr) c.6145C>A (p.Pro2049Thr) c.5773C>A (p.Pro1925Thr) c.5929C>A (p.Pro1977Thr) c.6136C>A (p.Pro2046Thr) c.5437C>A (p.Pro1813Thr) c.6184C>A (p.Pro2062Thr) | dbSNP ExAC gnomAD v2 |
16 | g.3728858T>A | CA493393729 | CREBBP | c.6189A>T (p.Ser2063=) c.6075A>T (p.Ser2025=) c.6144A>T (p.Ser2048=) c.5772A>T (p.Ser1924=) c.5928A>T (p.Ser1976=) c.6135A>T (p.Ser2045=) c.5436A>T (p.Ser1812=) c.6183A>T (p.Ser2061=) | dbSNP |
16 | g.3728858T>C | CA493393730 | CREBBP | c.6189A>G (p.Ser2063=) c.6075A>G (p.Ser2025=) c.6144A>G (p.Ser2048=) c.5772A>G (p.Ser1924=) c.5928A>G (p.Ser1976=) c.6135A>G (p.Ser2045=) c.5436A>G (p.Ser1812=) c.6183A>G (p.Ser2061=) | dbSNP |
16 | g.3728858T>G | CA493393731 | CREBBP | c.6189A>C (p.Ser2063=) c.6075A>C (p.Ser2025=) c.6144A>C (p.Ser2048=) c.5772A>C (p.Ser1924=) c.5928A>C (p.Ser1976=) c.6135A>C (p.Ser2045=) c.5436A>C (p.Ser1812=) c.6183A>C (p.Ser2061=) | dbSNP |
16 | g.3728859G>A | CA394553931 | CREBBP | c.6188C>T (p.Ser2063Leu) c.6074C>T (p.Ser2025Leu) c.6143C>T (p.Ser2048Leu) c.5771C>T (p.Ser1924Leu) c.5927C>T (p.Ser1976Leu) c.6134C>T (p.Ser2045Leu) c.5435C>T (p.Ser1812Leu) c.6182C>T (p.Ser2061Leu) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.3728859G>C | CA394553932 | CREBBP | c.6188C>G (p.Ser2063Ter) c.6074C>G (p.Ser2025Ter) c.6143C>G (p.Ser2048Ter) c.5771C>G (p.Ser1924Ter) c.5927C>G (p.Ser1976Ter) c.6134C>G (p.Ser2045Ter) c.5435C>G (p.Ser1812Ter) c.6182C>G (p.Ser2061Ter) | |
16 | g.3728859G= | CA2202928880 | CREBBP | c.6188C= (p.Ser2063=) c.6074C= (p.Ser2025=) c.6143C= (p.Ser2048=) c.5771C= (p.Ser1924=) c.5927C= (p.Ser1976=) c.6134C= (p.Ser2045=) c.5435C= (p.Ser1812=) c.6182C= (p.Ser2061=) | |
16 | g.3728859G>T | CA394553933 | CREBBP | c.6188C>A (p.Ser2063Ter) c.6074C>A (p.Ser2025Ter) c.6143C>A (p.Ser2048Ter) c.5771C>A (p.Ser1924Ter) c.5927C>A (p.Ser1976Ter) c.6134C>A (p.Ser2045Ter) c.5435C>A (p.Ser1812Ter) c.6182C>A (p.Ser2061Ter) | gnomAD v4 |
16 | g.3728860A>C | CA394553936 | CREBBP | c.6187T>G (p.Ser2063Ala) c.6073T>G (p.Ser2025Ala) c.6142T>G (p.Ser2048Ala) c.5770T>G (p.Ser1924Ala) c.5926T>G (p.Ser1976Ala) c.6133T>G (p.Ser2045Ala) c.5434T>G (p.Ser1812Ala) c.6181T>G (p.Ser2061Ala) | |
16 | g.3728860A>G | CA394553935 | CREBBP | c.6187T>C (p.Ser2063Pro) c.6073T>C (p.Ser2025Pro) c.6142T>C (p.Ser2048Pro) c.5770T>C (p.Ser1924Pro) c.5926T>C (p.Ser1976Pro) c.6133T>C (p.Ser2045Pro) c.5434T>C (p.Ser1812Pro) c.6181T>C (p.Ser2061Pro) | dbSNP |
16 | g.3728860A>T | CA394553934 | CREBBP | c.6187T>A (p.Ser2063Thr) c.6073T>A (p.Ser2025Thr) c.6142T>A (p.Ser2048Thr) c.5770T>A (p.Ser1924Thr) c.5926T>A (p.Ser1976Thr) c.6133T>A (p.Ser2045Thr) c.5434T>A (p.Ser1812Thr) c.6181T>A (p.Ser2061Thr) | dbSNP |
16 | g.3728861G>A | CA7869164 | CREBBP | c.6186C>T (p.Ile2062=) c.6072C>T (p.Ile2024=) c.6141C>T (p.Ile2047=) c.5769C>T (p.Ile1923=) c.5925C>T (p.Ile1975=) c.6132C>T (p.Ile2044=) c.5433C>T (p.Ile1811=) c.6180C>T (p.Ile2060=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3728861G>C | CA394553937 | CREBBP | c.6186C>G (p.Ile2062Met) c.6072C>G (p.Ile2024Met) c.6141C>G (p.Ile2047Met) c.5769C>G (p.Ile1923Met) c.5925C>G (p.Ile1975Met) c.6132C>G (p.Ile2044Met) c.5433C>G (p.Ile1811Met) c.6180C>G (p.Ile2060Met) | dbSNP |
16 | g.3728861G= | CA2202928881 | CREBBP | c.6186C= (p.Ile2062=) c.6072C= (p.Ile2024=) c.6141C= (p.Ile2047=) c.5769C= (p.Ile1923=) c.5925C= (p.Ile1975=) c.6132C= (p.Ile2044=) c.5433C= (p.Ile1811=) c.6180C= (p.Ile2060=) | |
16 | g.3728861G>T | CA493393732 | CREBBP | c.6186C>A (p.Ile2062=) c.6072C>A (p.Ile2024=) c.6141C>A (p.Ile2047=) c.5769C>A (p.Ile1923=) c.5925C>A (p.Ile1975=) c.6132C>A (p.Ile2044=) c.5433C>A (p.Ile1811=) c.6180C>A (p.Ile2060=) | |
16 | g.3728862A= | CA2202928882 | CREBBP | c.6185T= (p.Ile2062=) c.6071T= (p.Ile2024=) c.6140T= (p.Ile2047=) c.5768T= (p.Ile1923=) c.5924T= (p.Ile1975=) c.6131T= (p.Ile2044=) c.5432T= (p.Ile1811=) c.6179T= (p.Ile2060=) | |
16 | g.3728862A>C | CA394553938 | CREBBP | c.6185T>G (p.Ile2062Ser) c.6071T>G (p.Ile2024Ser) c.6140T>G (p.Ile2047Ser) c.5768T>G (p.Ile1923Ser) c.5924T>G (p.Ile1975Ser) c.6131T>G (p.Ile2044Ser) c.5432T>G (p.Ile1811Ser) c.6179T>G (p.Ile2060Ser) | dbSNP gnomAD v4 |
16 | g.3728862A>G | CA394553939 | CREBBP | c.6185T>C (p.Ile2062Thr) c.6071T>C (p.Ile2024Thr) c.6140T>C (p.Ile2047Thr) c.5768T>C (p.Ile1923Thr) c.5924T>C (p.Ile1975Thr) c.6131T>C (p.Ile2044Thr) c.5432T>C (p.Ile1811Thr) c.6179T>C (p.Ile2060Thr) | |
16 | g.3728862A>T | CA394553940 | CREBBP | c.6185T>A (p.Ile2062Asn) c.6071T>A (p.Ile2024Asn) c.6140T>A (p.Ile2047Asn) c.5768T>A (p.Ile1923Asn) c.5924T>A (p.Ile1975Asn) c.6131T>A (p.Ile2044Asn) c.5432T>A (p.Ile1811Asn) c.6179T>A (p.Ile2060Asn) | dbSNP |
16 | g.3728863T>A | CA394553941 | CREBBP | c.6184A>T (p.Ile2062Phe) c.6070A>T (p.Ile2024Phe) c.6139A>T (p.Ile2047Phe) c.5767A>T (p.Ile1923Phe) c.5923A>T (p.Ile1975Phe) c.6130A>T (p.Ile2044Phe) c.5431A>T (p.Ile1811Phe) c.6178A>T (p.Ile2060Phe) | dbSNP |
16 | g.3728863T>C | CA394553942 | CREBBP | c.6184A>G (p.Ile2062Val) c.6070A>G (p.Ile2024Val) c.6139A>G (p.Ile2047Val) c.5767A>G (p.Ile1923Val) c.5923A>G (p.Ile1975Val) c.6130A>G (p.Ile2044Val) c.5431A>G (p.Ile1811Val) c.6178A>G (p.Ile2060Val) | |
16 | g.3728863T>G | CA394553943 | CREBBP | c.6184A>C (p.Ile2062Leu) c.6070A>C (p.Ile2024Leu) c.6139A>C (p.Ile2047Leu) c.5767A>C (p.Ile1923Leu) c.5923A>C (p.Ile1975Leu) c.6130A>C (p.Ile2044Leu) c.5431A>C (p.Ile1811Leu) c.6178A>C (p.Ile2060Leu) | dbSNP |
16 | g.3728864G>A | CA493393734 | CREBBP | c.6183C>T (p.Ser2061=) c.6069C>T (p.Ser2023=) c.6138C>T (p.Ser2046=) c.5766C>T (p.Ser1922=) c.5922C>T (p.Ser1974=) c.6129C>T (p.Ser2043=) c.5430C>T (p.Ser1810=) c.6177C>T (p.Ser2059=) | dbSNP gnomAD v4 |
16 | g.3728864G>C | CA394553944 | CREBBP | c.6183C>G (p.Ser2061Arg) c.6069C>G (p.Ser2023Arg) c.6138C>G (p.Ser2046Arg) c.5766C>G (p.Ser1922Arg) c.5922C>G (p.Ser1974Arg) c.6129C>G (p.Ser2043Arg) c.5430C>G (p.Ser1810Arg) c.6177C>G (p.Ser2059Arg) | dbSNP |
16 | g.3728864G= | CA2202928883 | CREBBP | c.6183C= (p.Ser2061=) c.6069C= (p.Ser2023=) c.6138C= (p.Ser2046=) c.5766C= (p.Ser1922=) c.5922C= (p.Ser1974=) c.6129C= (p.Ser2043=) c.5430C= (p.Ser1810=) c.6177C= (p.Ser2059=) | |
16 | g.3728864G>T | CA394553945 | CREBBP | c.6183C>A (p.Ser2061Arg) c.6069C>A (p.Ser2023Arg) c.6138C>A (p.Ser2046Arg) c.5766C>A (p.Ser1922Arg) c.5922C>A (p.Ser1974Arg) c.6129C>A (p.Ser2043Arg) c.5430C>A (p.Ser1810Arg) c.6177C>A (p.Ser2059Arg) | gnomAD v4 |
16 | g.3728865C>A | CA394553946 | CREBBP | c.6182G>T (p.Ser2061Ile) c.6068G>T (p.Ser2023Ile) c.6137G>T (p.Ser2046Ile) c.5765G>T (p.Ser1922Ile) c.5921G>T (p.Ser1974Ile) c.6128G>T (p.Ser2043Ile) c.5429G>T (p.Ser1810Ile) c.6176G>T (p.Ser2059Ile) | |
16 | g.3728865C= | CA2202928884 | CREBBP | c.6182G= (p.Ser2061=) c.6068G= (p.Ser2023=) c.6137G= (p.Ser2046=) c.5765G= (p.Ser1922=) c.5921G= (p.Ser1974=) c.6128G= (p.Ser2043=) c.5429G= (p.Ser1810=) c.6176G= (p.Ser2059=) | |
16 | g.3728865C>G | CA394553947 | CREBBP | c.6182G>C (p.Ser2061Thr) c.6068G>C (p.Ser2023Thr) c.6137G>C (p.Ser2046Thr) c.5765G>C (p.Ser1922Thr) c.5921G>C (p.Ser1974Thr) c.6128G>C (p.Ser2043Thr) c.5429G>C (p.Ser1810Thr) c.6176G>C (p.Ser2059Thr) | dbSNP |
16 | g.3728865C>T | CA394553948 | CREBBP | c.6182G>A (p.Ser2061Asn) c.6068G>A (p.Ser2023Asn) c.6137G>A (p.Ser2046Asn) c.5765G>A (p.Ser1922Asn) c.5921G>A (p.Ser1974Asn) c.6128G>A (p.Ser2043Asn) c.5429G>A (p.Ser1810Asn) c.6176G>A (p.Ser2059Asn) | dbSNP gnomAD v2 |
16 | g.3728866T>A | CA394553951 | CREBBP | c.6181A>T (p.Ser2061Cys) c.6067A>T (p.Ser2023Cys) c.6136A>T (p.Ser2046Cys) c.5764A>T (p.Ser1922Cys) c.5920A>T (p.Ser1974Cys) c.6127A>T (p.Ser2043Cys) c.5428A>T (p.Ser1810Cys) c.6175A>T (p.Ser2059Cys) | dbSNP |
16 | g.3728866T>C | CA394553950 | CREBBP | c.6181A>G (p.Ser2061Gly) c.6067A>G (p.Ser2023Gly) c.6136A>G (p.Ser2046Gly) c.5764A>G (p.Ser1922Gly) c.5920A>G (p.Ser1974Gly) c.6127A>G (p.Ser2043Gly) c.5428A>G (p.Ser1810Gly) c.6175A>G (p.Ser2059Gly) | dbSNP |
16 | g.3728866T>G | CA394553949 | CREBBP | c.6181A>C (p.Ser2061Arg) c.6067A>C (p.Ser2023Arg) c.6136A>C (p.Ser2046Arg) c.5764A>C (p.Ser1922Arg) c.5920A>C (p.Ser1974Arg) c.6127A>C (p.Ser2043Arg) c.5428A>C (p.Ser1810Arg) c.6175A>C (p.Ser2059Arg) | |
16 | g.3728867C>A | CA394553953 | CREBBP | c.6180G>T (p.Arg2060Ser) c.6066G>T (p.Arg2022Ser) c.6135G>T (p.Arg2045Ser) c.5763G>T (p.Arg1921Ser) c.5919G>T (p.Arg1973Ser) c.6126G>T (p.Arg2042Ser) c.5427G>T (p.Arg1809Ser) c.6174G>T (p.Arg2058Ser) | dbSNP |
16 | g.3728867C>G | CA394553952 | CREBBP | c.6180G>C (p.Arg2060Ser) c.6066G>C (p.Arg2022Ser) c.6135G>C (p.Arg2045Ser) c.5763G>C (p.Arg1921Ser) c.5919G>C (p.Arg1973Ser) c.6126G>C (p.Arg2042Ser) c.5427G>C (p.Arg1809Ser) c.6174G>C (p.Arg2058Ser) | dbSNP gnomAD v4 |
16 | g.3728867C>T | CA493393737 | CREBBP | c.6180G>A (p.Arg2060=) c.6066G>A (p.Arg2022=) c.6135G>A (p.Arg2045=) c.5763G>A (p.Arg1921=) c.5919G>A (p.Arg1973=) c.6126G>A (p.Arg2042=) c.5427G>A (p.Arg1809=) c.6174G>A (p.Arg2058=) | dbSNP |
16 | g.3728868C>A | CA394553956 | CREBBP | c.6179G>T (p.Arg2060Met) c.6065G>T (p.Arg2022Met) c.6134G>T (p.Arg2045Met) c.5762G>T (p.Arg1921Met) c.5918G>T (p.Arg1973Met) c.6125G>T (p.Arg2042Met) c.5426G>T (p.Arg1809Met) c.6173G>T (p.Arg2058Met) | |
16 | g.3728868C>G | CA394553954 | CREBBP | c.6179G>C (p.Arg2060Thr) c.6065G>C (p.Arg2022Thr) c.6134G>C (p.Arg2045Thr) c.5762G>C (p.Arg1921Thr) c.5918G>C (p.Arg1973Thr) c.6125G>C (p.Arg2042Thr) c.5426G>C (p.Arg1809Thr) c.6173G>C (p.Arg2058Thr) | dbSNP |
16 | g.3728868C>T | CA394553955 | CREBBP | c.6179G>A (p.Arg2060Lys) c.6065G>A (p.Arg2022Lys) c.6134G>A (p.Arg2045Lys) c.5762G>A (p.Arg1921Lys) c.5918G>A (p.Arg1973Lys) c.6125G>A (p.Arg2042Lys) c.5426G>A (p.Arg1809Lys) c.6173G>A (p.Arg2058Lys) | dbSNP |
16 | g.3728869T>A | CA394553957 | CREBBP | c.6178A>T (p.Arg2060Trp) c.6064A>T (p.Arg2022Trp) c.6133A>T (p.Arg2045Trp) c.5761A>T (p.Arg1921Trp) c.5917A>T (p.Arg1973Trp) c.6124A>T (p.Arg2042Trp) c.5425A>T (p.Arg1809Trp) c.6172A>T (p.Arg2058Trp) | dbSNP |
16 | g.3728869T>C | CA394553958 | CREBBP | c.6178A>G (p.Arg2060Gly) c.6064A>G (p.Arg2022Gly) c.6133A>G (p.Arg2045Gly) c.5761A>G (p.Arg1921Gly) c.5917A>G (p.Arg1973Gly) c.6124A>G (p.Arg2042Gly) c.5425A>G (p.Arg1809Gly) c.6172A>G (p.Arg2058Gly) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.3728869T>G | CA493393738 | CREBBP | c.6178A>C (p.Arg2060=) c.6064A>C (p.Arg2022=) c.6133A>C (p.Arg2045=) c.5761A>C (p.Arg1921=) c.5917A>C (p.Arg1973=) c.6124A>C (p.Arg2042=) c.5425A>C (p.Arg1809=) c.6172A>C (p.Arg2058=) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.3728869T= | CA2202928885 | CREBBP | c.6178A= (p.Arg2060=) c.6064A= (p.Arg2022=) c.6133A= (p.Arg2045=) c.5761A= (p.Arg1921=) c.5917A= (p.Arg1973=) c.6124A= (p.Arg2042=) c.5425A= (p.Arg1809=) c.6172A= (p.Arg2058=) | |
16 | g.3728870G>A | CA493393740 | CREBBP | c.6177C>T (p.Pro2059=) c.6063C>T (p.Pro2021=) c.6132C>T (p.Pro2044=) c.5760C>T (p.Pro1920=) c.5916C>T (p.Pro1972=) c.6123C>T (p.Pro2041=) c.5424C>T (p.Pro1808=) c.6171C>T (p.Pro2057=) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.3728870G>C | CA493393742 | CREBBP | c.6177C>G (p.Pro2059=) c.6063C>G (p.Pro2021=) c.6132C>G (p.Pro2044=) c.5760C>G (p.Pro1920=) c.5916C>G (p.Pro1972=) c.6123C>G (p.Pro2041=) c.5424C>G (p.Pro1808=) c.6171C>G (p.Pro2057=) | |
16 | g.3728870G= | CA2202928886 | CREBBP | c.6177C= (p.Pro2059=) c.6063C= (p.Pro2021=) c.6132C= (p.Pro2044=) c.5760C= (p.Pro1920=) c.5916C= (p.Pro1972=) c.6123C= (p.Pro2041=) c.5424C= (p.Pro1808=) c.6171C= (p.Pro2057=) | |
16 | g.3728870G>T | CA493393744 | CREBBP | c.6177C>A (p.Pro2059=) c.6063C>A (p.Pro2021=) c.6132C>A (p.Pro2044=) c.5760C>A (p.Pro1920=) c.5916C>A (p.Pro1972=) c.6123C>A (p.Pro2041=) c.5424C>A (p.Pro1808=) c.6171C>A (p.Pro2057=) | dbSNP |
16 | g.3728871G>A | CA394553959 | CREBBP | c.6176C>T (p.Pro2059Leu) c.6062C>T (p.Pro2021Leu) c.6131C>T (p.Pro2044Leu) c.5759C>T (p.Pro1920Leu) c.5915C>T (p.Pro1972Leu) c.6122C>T (p.Pro2041Leu) c.5423C>T (p.Pro1808Leu) c.6170C>T (p.Pro2057Leu) | dbSNP |
16 | g.3728871G>C | CA394553960 | CREBBP | c.6176C>G (p.Pro2059Arg) c.6062C>G (p.Pro2021Arg) c.6131C>G (p.Pro2044Arg) c.5759C>G (p.Pro1920Arg) c.5915C>G (p.Pro1972Arg) c.6122C>G (p.Pro2041Arg) c.5423C>G (p.Pro1808Arg) c.6170C>G (p.Pro2057Arg) | |
16 | g.3728871G>T | CA394553961 | CREBBP | c.6176C>A (p.Pro2059His) c.6062C>A (p.Pro2021His) c.6131C>A (p.Pro2044His) c.5759C>A (p.Pro1920His) c.5915C>A (p.Pro1972His) c.6122C>A (p.Pro2041His) c.5423C>A (p.Pro1808His) c.6170C>A (p.Pro2057His) | dbSNP |
16 | g.3728872G>A | CA394553962 | CREBBP | c.6175C>T (p.Pro2059Ser) c.6061C>T (p.Pro2021Ser) c.6130C>T (p.Pro2044Ser) c.5758C>T (p.Pro1920Ser) c.5914C>T (p.Pro1972Ser) c.6121C>T (p.Pro2041Ser) c.5422C>T (p.Pro1808Ser) c.6169C>T (p.Pro2057Ser) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.3728872G>C | CA394553963 | CREBBP | c.6175C>G (p.Pro2059Ala) c.6061C>G (p.Pro2021Ala) c.6130C>G (p.Pro2044Ala) c.5758C>G (p.Pro1920Ala) c.5914C>G (p.Pro1972Ala) c.6121C>G (p.Pro2041Ala) c.5422C>G (p.Pro1808Ala) c.6169C>G (p.Pro2057Ala) | dbSNP |
16 | g.3728872G= | CA2202928887 | CREBBP | c.6175C= (p.Pro2059=) c.6061C= (p.Pro2021=) c.6130C= (p.Pro2044=) c.5758C= (p.Pro1920=) c.5914C= (p.Pro1972=) c.6121C= (p.Pro2041=) c.5422C= (p.Pro1808=) c.6169C= (p.Pro2057=) | |
16 | g.3728872G>T | CA394553964 | CREBBP | c.6175C>A (p.Pro2059Thr) c.6061C>A (p.Pro2021Thr) c.6130C>A (p.Pro2044Thr) c.5758C>A (p.Pro1920Thr) c.5914C>A (p.Pro1972Thr) c.6121C>A (p.Pro2041Thr) c.5422C>A (p.Pro1808Thr) c.6169C>A (p.Pro2057Thr) | |
16 | g.3728873T>A | CA493393746 | CREBBP | c.6174A>T (p.Pro2058=) c.6060A>T (p.Pro2020=) c.6129A>T (p.Pro2043=) c.5757A>T (p.Pro1919=) c.5913A>T (p.Pro1971=) c.6120A>T (p.Pro2040=) c.5421A>T (p.Pro1807=) c.6168A>T (p.Pro2056=) | dbSNP |
16 | g.3728873T>C | CA493393748 | CREBBP | c.6174A>G (p.Pro2058=) c.6060A>G (p.Pro2020=) c.6129A>G (p.Pro2043=) c.5757A>G (p.Pro1919=) c.5913A>G (p.Pro1971=) c.6120A>G (p.Pro2040=) c.5421A>G (p.Pro1807=) c.6168A>G (p.Pro2056=) | dbSNP |
16 | g.3728873T>G | CA493393750 | CREBBP | c.6174A>C (p.Pro2058=) c.6060A>C (p.Pro2020=) c.6129A>C (p.Pro2043=) c.5757A>C (p.Pro1919=) c.5913A>C (p.Pro1971=) c.6120A>C (p.Pro2040=) c.5421A>C (p.Pro1807=) c.6168A>C (p.Pro2056=) | dbSNP |
16 | g.3728874G>A | CA394553966 | CREBBP | c.6173C>T (p.Pro2058Leu) c.6059C>T (p.Pro2020Leu) c.6128C>T (p.Pro2043Leu) c.5756C>T (p.Pro1919Leu) c.5912C>T (p.Pro1971Leu) c.6119C>T (p.Pro2040Leu) c.5420C>T (p.Pro1807Leu) c.6167C>T (p.Pro2056Leu) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.3728874G>C | CA394553968 | CREBBP | c.6173C>G (p.Pro2058Arg) c.6059C>G (p.Pro2020Arg) c.6128C>G (p.Pro2043Arg) c.5756C>G (p.Pro1919Arg) c.5912C>G (p.Pro1971Arg) c.6119C>G (p.Pro2040Arg) c.5420C>G (p.Pro1807Arg) c.6167C>G (p.Pro2056Arg) | dbSNP gnomAD v4 |
16 | g.3728874G= | CA2202928888 | CREBBP | c.6173C= (p.Pro2058=) c.6059C= (p.Pro2020=) c.6128C= (p.Pro2043=) c.5756C= (p.Pro1919=) c.5912C= (p.Pro1971=) c.6119C= (p.Pro2040=) c.5420C= (p.Pro1807=) c.6167C= (p.Pro2056=) | |
16 | g.3728874G>T | CA394553970 | CREBBP | c.6173C>A (p.Pro2058Gln) c.6059C>A (p.Pro2020Gln) c.6128C>A (p.Pro2043Gln) c.5756C>A (p.Pro1919Gln) c.5912C>A (p.Pro1971Gln) c.6119C>A (p.Pro2040Gln) c.5420C>A (p.Pro1807Gln) c.6167C>A (p.Pro2056Gln) | dbSNP gnomAD v4 |
16 | g.3728875G>A | CA394553976 | CREBBP | c.6172C>T (p.Pro2058Ser) c.6058C>T (p.Pro2020Ser) c.6127C>T (p.Pro2043Ser) c.5755C>T (p.Pro1919Ser) c.5911C>T (p.Pro1971Ser) c.6118C>T (p.Pro2040Ser) c.5419C>T (p.Pro1807Ser) c.6166C>T (p.Pro2056Ser) | |
16 | g.3728875G>C | CA394553974 | CREBBP | c.6172C>G (p.Pro2058Ala) c.6058C>G (p.Pro2020Ala) c.6127C>G (p.Pro2043Ala) c.5755C>G (p.Pro1919Ala) c.5911C>G (p.Pro1971Ala) c.6118C>G (p.Pro2040Ala) c.5419C>G (p.Pro1807Ala) c.6166C>G (p.Pro2056Ala) | |
16 | g.3728875G>T | CA394553972 | CREBBP | c.6172C>A (p.Pro2058Thr) c.6058C>A (p.Pro2020Thr) c.6127C>A (p.Pro2043Thr) c.5755C>A (p.Pro1919Thr) c.5911C>A (p.Pro1971Thr) c.6118C>A (p.Pro2040Thr) c.5419C>A (p.Pro1807Thr) c.6166C>A (p.Pro2056Thr) | |
16 | g.3728875_3728917delinsGCTGCACGCTGGGCATCCGGGGCCCAGCCACGGCCGCCTGGGC | CA2202928889 | CREBBP | c.6130_6172delinsGCCCAGGCGGCCGTGGCTGGGCCCCGGATGCCCAGCGTGCAGC (p.Ala2044=) c.6016_6058delinsGCCCAGGCGGCCGTGGCTGGGCCCCGGATGCCCAGCGTGCAGC (p.Ala2006=) c.6085_6127delinsGCCCAGGCGGCCGTGGCTGGGCCCCGGATGCCCAGCGTGCAGC (p.Ala2029=) c.5713_5755delinsGCCCAGGCGGCCGTGGCTGGGCCCCGGATGCCCAGCGTGCAGC (p.Ala1905=) c.5869_5911delinsGCCCAGGCGGCCGTGGCTGGGCCCCGGATGCCCAGCGTGCAGC (p.Ala1957=) c.6076_6118delinsGCCCAGGCGGCCGTGGCTGGGCCCCGGATGCCCAGCGTGCAGC (p.Ala2026=) c.5377_5419delinsGCCCAGGCGGCCGTGGCTGGGCCCCGGATGCCCAGCGTGCAGC (p.Ala1793=) c.6124_6166delinsGCCCAGGCGGCCGTGGCTGGGCCCCGGATGCCCAGCGTGCAGC (p.Ala2042=) | |
16 | g.3728876C>A | CA394553977 | CREBBP | c.6171G>T (p.Gln2057His) c.6057G>T (p.Gln2019His) c.6126G>T (p.Gln2042His) c.5754G>T (p.Gln1918His) c.5910G>T (p.Gln1970His) c.6117G>T (p.Gln2039His) c.5418G>T (p.Gln1806His) c.6165G>T (p.Gln2055His) | |
16 | g.3728876C>G | CA394553978 | CREBBP | c.6171G>C (p.Gln2057His) c.6057G>C (p.Gln2019His) c.6126G>C (p.Gln2042His) c.5754G>C (p.Gln1918His) c.5910G>C (p.Gln1970His) c.6117G>C (p.Gln2039His) c.5418G>C (p.Gln1806His) c.6165G>C (p.Gln2055His) | |
16 | g.3728876C>T | CA493393753 | CREBBP | c.6171G>A (p.Gln2057=) c.6057G>A (p.Gln2019=) c.6126G>A (p.Gln2042=) c.5754G>A (p.Gln1918=) c.5910G>A (p.Gln1970=) c.6117G>A (p.Gln2039=) c.5418G>A (p.Gln1806=) c.6165G>A (p.Gln2055=) | gnomAD v4 |
16 | g.3728881_3728922del | CA271438 | CREBBP | c.6130_6171del (p.Ala2044_Gln2057del) c.6016_6057del (p.Ala2006_Gln2019del) c.6085_6126del (p.Ala2029_Gln2042del) c.5713_5754del (p.Ala1905_Gln1918del) c.5869_5910del (p.Ala1957_Gln1970del) c.6076_6117del (p.Ala2026_Gln2039del) c.5377_5418del (p.Ala1793_Gln1806del) c.6124_6165del (p.Ala2042_Gln2055del) | ClinVar dbSNP |
16 | g.3728877T>A | CA394553979 | CREBBP | c.6170A>T (p.Gln2057Leu) c.6056A>T (p.Gln2019Leu) c.6125A>T (p.Gln2042Leu) c.5753A>T (p.Gln1918Leu) c.5909A>T (p.Gln1970Leu) c.6116A>T (p.Gln2039Leu) c.5417A>T (p.Gln1806Leu) c.6164A>T (p.Gln2055Leu) | dbSNP |
16 | g.3728877T>C | CA394553980 | CREBBP | c.6170A>G (p.Gln2057Arg) c.6056A>G (p.Gln2019Arg) c.6125A>G (p.Gln2042Arg) c.5753A>G (p.Gln1918Arg) c.5909A>G (p.Gln1970Arg) c.6116A>G (p.Gln2039Arg) c.5417A>G (p.Gln1806Arg) c.6164A>G (p.Gln2055Arg) | dbSNP |
16 | g.3728877T>G | CA394553981 | CREBBP | c.6170A>C (p.Gln2057Pro) c.6056A>C (p.Gln2019Pro) c.6125A>C (p.Gln2042Pro) c.5753A>C (p.Gln1918Pro) c.5909A>C (p.Gln1970Pro) c.6116A>C (p.Gln2039Pro) c.5417A>C (p.Gln1806Pro) c.6164A>C (p.Gln2055Pro) | dbSNP gnomAD v4 |
16 | g.3728878G>A | CA394553982 | CREBBP | c.6169C>T (p.Gln2057Ter) c.6055C>T (p.Gln2019Ter) c.6124C>T (p.Gln2042Ter) c.5752C>T (p.Gln1918Ter) c.5908C>T (p.Gln1970Ter) c.6115C>T (p.Gln2039Ter) c.5416C>T (p.Gln1806Ter) c.6163C>T (p.Gln2055Ter) | ClinVar dbSNP gnomAD v2 |
16 | g.3728878G>C | CA394553983 | CREBBP | c.6169C>G (p.Gln2057Glu) c.6055C>G (p.Gln2019Glu) c.6124C>G (p.Gln2042Glu) c.5752C>G (p.Gln1918Glu) c.5908C>G (p.Gln1970Glu) c.6115C>G (p.Gln2039Glu) c.5416C>G (p.Gln1806Glu) c.6163C>G (p.Gln2055Glu) | dbSNP |
16 | g.3728878G= | CA2202928890 | CREBBP | c.6169C= (p.Gln2057=) c.6055C= (p.Gln2019=) c.6124C= (p.Gln2042=) c.5752C= (p.Gln1918=) c.5908C= (p.Gln1970=) c.6115C= (p.Gln2039=) c.5416C= (p.Gln1806=) c.6163C= (p.Gln2055=) | |
16 | g.3728878G>T | CA394553984 | CREBBP | c.6169C>A (p.Gln2057Lys) c.6055C>A (p.Gln2019Lys) c.6124C>A (p.Gln2042Lys) c.5752C>A (p.Gln1918Lys) c.5908C>A (p.Gln1970Lys) c.6115C>A (p.Gln2039Lys) c.5416C>A (p.Gln1806Lys) c.6163C>A (p.Gln2055Lys) | gnomAD v4 |
16 | g.3728879C>A | CA493393755 | CREBBP | c.6168G>T (p.Val2056=) c.6054G>T (p.Val2018=) c.6123G>T (p.Val2041=) c.5751G>T (p.Val1917=) c.5907G>T (p.Val1969=) c.6114G>T (p.Val2038=) c.5415G>T (p.Val1805=) c.6162G>T (p.Val2054=) | |
16 | g.3728879C= | CA2202928891 | CREBBP | c.6168G= (p.Val2056=) c.6054G= (p.Val2018=) c.6123G= (p.Val2041=) c.5751G= (p.Val1917=) c.5907G= (p.Val1969=) c.6114G= (p.Val2038=) c.5415G= (p.Val1805=) c.6162G= (p.Val2054=) | |
16 | g.3728879C>G | CA493393756 | CREBBP | c.6168G>C (p.Val2056=) c.6054G>C (p.Val2018=) c.6123G>C (p.Val2041=) c.5751G>C (p.Val1917=) c.5907G>C (p.Val1969=) c.6114G>C (p.Val2038=) c.5415G>C (p.Val1805=) c.6162G>C (p.Val2054=) | |
16 | g.3728879C>T | CA7869165 | CREBBP | c.6168G>A (p.Val2056=) c.6054G>A (p.Val2018=) c.6123G>A (p.Val2041=) c.5751G>A (p.Val1917=) c.5907G>A (p.Val1969=) c.6114G>A (p.Val2038=) c.5415G>A (p.Val1805=) c.6162G>A (p.Val2054=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.3728879_3728888del | CA2731850792 | CREBBP | c.6159_6168del (p.Met2053IlefsTer19) c.6045_6054del (p.Met2015IlefsTer19) c.6114_6123del (p.Met2038IlefsTer19) c.5742_5751del (p.Met1914IlefsTer19) c.5898_5907del (p.Met1966IlefsTer19) c.6105_6114del (p.Met2035IlefsTer19) c.5406_5415del (p.Met1802IlefsTer19) c.6153_6162del (p.Met2051IlefsTer19) | dbSNP |
16 | g.3728880A>C | CA394553986 | CREBBP | c.6167T>G (p.Val2056Gly) c.6053T>G (p.Val2018Gly) c.6122T>G (p.Val2041Gly) c.5750T>G (p.Val1917Gly) c.5906T>G (p.Val1969Gly) c.6113T>G (p.Val2038Gly) c.5414T>G (p.Val1805Gly) c.6161T>G (p.Val2054Gly) | |
16 | g.3728880A>G | CA394553987 | CREBBP | c.6167T>C (p.Val2056Ala) c.6053T>C (p.Val2018Ala) c.6122T>C (p.Val2041Ala) c.5750T>C (p.Val1917Ala) c.5906T>C (p.Val1969Ala) c.6113T>C (p.Val2038Ala) c.5414T>C (p.Val1805Ala) c.6161T>C (p.Val2054Ala) | |
16 | g.3728880A>T | CA394553988 | CREBBP | c.6167T>A (p.Val2056Glu) c.6053T>A (p.Val2018Glu) c.6122T>A (p.Val2041Glu) c.5750T>A (p.Val1917Glu) c.5906T>A (p.Val1969Glu) c.6113T>A (p.Val2038Glu) c.5414T>A (p.Val1805Glu) c.6161T>A (p.Val2054Glu) | |
16 | g.3728881del | CA2695222740 | CREBBP | c.6166del (p.Val2056CysfsTer19) c.6052del (p.Val2018CysfsTer19) c.6121del (p.Val2041CysfsTer19) c.5749del (p.Val1917CysfsTer19) c.5905del (p.Val1969CysfsTer19) c.6112del (p.Val2038CysfsTer19) c.5413del (p.Val1805CysfsTer19) c.6160del (p.Val2054CysfsTer19) | |
16 | g.3728881C>A | CA394553994 | CREBBP | c.6166G>T (p.Val2056Leu) c.6052G>T (p.Val2018Leu) c.6121G>T (p.Val2041Leu) c.5749G>T (p.Val1917Leu) c.5905G>T (p.Val1969Leu) c.6112G>T (p.Val2038Leu) c.5413G>T (p.Val1805Leu) c.6160G>T (p.Val2054Leu) | |
16 | g.3728881C= | CA2202916097 | CREBBP | c.6166G= (p.Val2056=) c.6052G= (p.Val2018=) c.6121G= (p.Val2041=) c.5749G= (p.Val1917=) c.5905G= (p.Val1969=) c.6112G= (p.Val2038=) c.5413G= (p.Val1805=) c.6160G= (p.Val2054=) | |
16 | g.3728881C>G | CA394553997 | CREBBP | c.6166G>C (p.Val2056Leu) c.6052G>C (p.Val2018Leu) c.6121G>C (p.Val2041Leu) c.5749G>C (p.Val1917Leu) c.5905G>C (p.Val1969Leu) c.6112G>C (p.Val2038Leu) c.5413G>C (p.Val1805Leu) c.6160G>C (p.Val2054Leu) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.3728881C>T | CA394553989 | CREBBP | c.6166G>A (p.Val2056Met) c.6052G>A (p.Val2018Met) c.6121G>A (p.Val2041Met) c.5749G>A (p.Val1917Met) c.5905G>A (p.Val1969Met) c.6112G>A (p.Val2038Met) c.5413G>A (p.Val1805Met) c.6160G>A (p.Val2054Met) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.3728882G>A | CA7869166 | CREBBP | c.6165C>T (p.Ser2055=) c.6051C>T (p.Ser2017=) c.6120C>T (p.Ser2040=) c.5748C>T (p.Ser1916=) c.5904C>T (p.Ser1968=) c.6111C>T (p.Ser2037=) c.5412C>T (p.Ser1804=) c.6159C>T (p.Ser2053=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3728882G>C | CA394554000 | CREBBP | c.6165C>G (p.Ser2055Arg) c.6051C>G (p.Ser2017Arg) c.6120C>G (p.Ser2040Arg) c.5748C>G (p.Ser1916Arg) c.5904C>G (p.Ser1968Arg) c.6111C>G (p.Ser2037Arg) c.5412C>G (p.Ser1804Arg) c.6159C>G (p.Ser2053Arg) | |
16 | g.3728882G= | CA2202916098 | CREBBP | c.6165C= (p.Ser2055=) c.6051C= (p.Ser2017=) c.6120C= (p.Ser2040=) c.5748C= (p.Ser1916=) c.5904C= (p.Ser1968=) c.6111C= (p.Ser2037=) c.5412C= (p.Ser1804=) c.6159C= (p.Ser2053=) | |
16 | g.3728882G>T | CA394554002 | CREBBP | c.6165C>A (p.Ser2055Arg) c.6051C>A (p.Ser2017Arg) c.6120C>A (p.Ser2040Arg) c.5748C>A (p.Ser1916Arg) c.5904C>A (p.Ser1968Arg) c.6111C>A (p.Ser2037Arg) c.5412C>A (p.Ser1804Arg) c.6159C>A (p.Ser2053Arg) | gnomAD v4 |
16 | g.3728883C>A | CA394554004 | CREBBP | c.6164G>T (p.Ser2055Ile) c.6050G>T (p.Ser2017Ile) c.6119G>T (p.Ser2040Ile) c.5747G>T (p.Ser1916Ile) c.5903G>T (p.Ser1968Ile) c.6110G>T (p.Ser2037Ile) c.5411G>T (p.Ser1804Ile) c.6158G>T (p.Ser2053Ile) | dbSNP gnomAD v4 |
16 | g.3728883C>G | CA394554006 | CREBBP | c.6164G>C (p.Ser2055Thr) c.6050G>C (p.Ser2017Thr) c.6119G>C (p.Ser2040Thr) c.5747G>C (p.Ser1916Thr) c.5903G>C (p.Ser1968Thr) c.6110G>C (p.Ser2037Thr) c.5411G>C (p.Ser1804Thr) c.6158G>C (p.Ser2053Thr) | ClinVar dbSNP |
16 | g.3728883C>T | CA394554008 | CREBBP | c.6164G>A (p.Ser2055Asn) c.6050G>A (p.Ser2017Asn) c.6119G>A (p.Ser2040Asn) c.5747G>A (p.Ser1916Asn) c.5903G>A (p.Ser1968Asn) c.6110G>A (p.Ser2037Asn) c.5411G>A (p.Ser1804Asn) c.6158G>A (p.Ser2053Asn) | dbSNP gnomAD v4 |
16 | g.3728889_3728917del | CA2573334478 | CREBBP | c.6136_6164del (p.Ala2046ArgfsTer?) c.6022_6050del (p.Ala2008ArgfsTer?) c.6091_6119del (p.Ala2031ArgfsTer?) c.5719_5747del (p.Ala1907ArgfsTer?) c.5875_5903del (p.Ala1959ArgfsTer?) c.6082_6110del (p.Ala2028ArgfsTer?) c.5383_5411del (p.Ala1795ArgfsTer?) c.6130_6158del (p.Ala2044ArgfsTer?) | dbSNP |
16 | g.3728884T>A | CA394554010 | CREBBP | c.6163A>T (p.Ser2055Cys) c.6049A>T (p.Ser2017Cys) c.6118A>T (p.Ser2040Cys) c.5746A>T (p.Ser1916Cys) c.5902A>T (p.Ser1968Cys) c.6109A>T (p.Ser2037Cys) c.5410A>T (p.Ser1804Cys) c.6157A>T (p.Ser2053Cys) | |
16 | g.3728884T>C | CA394554012 | CREBBP | c.6163A>G (p.Ser2055Gly) c.6049A>G (p.Ser2017Gly) c.6118A>G (p.Ser2040Gly) c.5746A>G (p.Ser1916Gly) c.5902A>G (p.Ser1968Gly) c.6109A>G (p.Ser2037Gly) c.5410A>G (p.Ser1804Gly) c.6157A>G (p.Ser2053Gly) | |
16 | g.3728884T>G | CA394554014 | CREBBP | c.6163A>C (p.Ser2055Arg) c.6049A>C (p.Ser2017Arg) c.6118A>C (p.Ser2040Arg) c.5746A>C (p.Ser1916Arg) c.5902A>C (p.Ser1968Arg) c.6109A>C (p.Ser2037Arg) c.5410A>C (p.Ser1804Arg) c.6157A>C (p.Ser2053Arg) | |
16 | g.3728885G>A | CA493393760 | CREBBP | c.6162C>T (p.Pro2054=) c.6048C>T (p.Pro2016=) c.6117C>T (p.Pro2039=) c.5745C>T (p.Pro1915=) c.5901C>T (p.Pro1967=) c.6108C>T (p.Pro2036=) c.5409C>T (p.Pro1803=) c.6156C>T (p.Pro2052=) | dbSNP |
16 | g.3728885G>C | CA493393761 | CREBBP | c.6162C>G (p.Pro2054=) c.6048C>G (p.Pro2016=) c.6117C>G (p.Pro2039=) c.5745C>G (p.Pro1915=) c.5901C>G (p.Pro1967=) c.6108C>G (p.Pro2036=) c.5409C>G (p.Pro1803=) c.6156C>G (p.Pro2052=) | dbSNP |
16 | g.3728885G>T | CA493393763 | CREBBP | c.6162C>A (p.Pro2054=) c.6048C>A (p.Pro2016=) c.6117C>A (p.Pro2039=) c.5745C>A (p.Pro1915=) c.5901C>A (p.Pro1967=) c.6108C>A (p.Pro2036=) c.5409C>A (p.Pro1803=) c.6156C>A (p.Pro2052=) | dbSNP gnomAD v4 |
16 | g.3728886G>A | CA394554016 | CREBBP | c.6161C>T (p.Pro2054Leu) c.6047C>T (p.Pro2016Leu) c.6116C>T (p.Pro2039Leu) c.5744C>T (p.Pro1915Leu) c.5900C>T (p.Pro1967Leu) c.6107C>T (p.Pro2036Leu) c.5408C>T (p.Pro1803Leu) c.6155C>T (p.Pro2052Leu) | ClinVar dbSNP |
16 | g.3728886G>C | CA394554018 | CREBBP | c.6161C>G (p.Pro2054Arg) c.6047C>G (p.Pro2016Arg) c.6116C>G (p.Pro2039Arg) c.5744C>G (p.Pro1915Arg) c.5900C>G (p.Pro1967Arg) c.6107C>G (p.Pro2036Arg) c.5408C>G (p.Pro1803Arg) c.6155C>G (p.Pro2052Arg) | dbSNP gnomAD v4 |
16 | g.3728886G>T | CA394554020 | CREBBP | c.6161C>A (p.Pro2054His) c.6047C>A (p.Pro2016His) c.6116C>A (p.Pro2039His) c.5744C>A (p.Pro1915His) c.5900C>A (p.Pro1967His) c.6107C>A (p.Pro2036His) c.5408C>A (p.Pro1803His) c.6155C>A (p.Pro2052His) | |
16 | g.3728887G>A | CA394554026 | CREBBP | c.6160C>T (p.Pro2054Ser) c.6046C>T (p.Pro2016Ser) c.6115C>T (p.Pro2039Ser) c.5743C>T (p.Pro1915Ser) c.5899C>T (p.Pro1967Ser) c.6106C>T (p.Pro2036Ser) c.5407C>T (p.Pro1803Ser) c.6154C>T (p.Pro2052Ser) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.3728887G>C | CA394554022 | CREBBP | c.6160C>G (p.Pro2054Ala) c.6046C>G (p.Pro2016Ala) c.6115C>G (p.Pro2039Ala) c.5743C>G (p.Pro1915Ala) c.5899C>G (p.Pro1967Ala) c.6106C>G (p.Pro2036Ala) c.5407C>G (p.Pro1803Ala) c.6154C>G (p.Pro2052Ala) | dbSNP |
16 | g.3728887G= | CA2202916099 | CREBBP | c.6160C= (p.Pro2054=) c.6046C= (p.Pro2016=) c.6115C= (p.Pro2039=) c.5743C= (p.Pro1915=) c.5899C= (p.Pro1967=) c.6106C= (p.Pro2036=) c.5407C= (p.Pro1803=) c.6154C= (p.Pro2052=) | |
16 | g.3728887G>T | CA394554024 | CREBBP | c.6160C>A (p.Pro2054Thr) c.6046C>A (p.Pro2016Thr) c.6115C>A (p.Pro2039Thr) c.5743C>A (p.Pro1915Thr) c.5899C>A (p.Pro1967Thr) c.6106C>A (p.Pro2036Thr) c.5407C>A (p.Pro1803Thr) c.6154C>A (p.Pro2052Thr) | |
16 | g.3728888C>A | CA394554028 | CREBBP | c.6159G>T (p.Met2053Ile) c.6045G>T (p.Met2015Ile) c.6114G>T (p.Met2038Ile) c.5742G>T (p.Met1914Ile) c.5898G>T (p.Met1966Ile) c.6105G>T (p.Met2035Ile) c.5406G>T (p.Met1802Ile) c.6153G>T (p.Met2051Ile) | gnomAD v4 |
16 | g.3728888C>G | CA394554030 | CREBBP | c.6159G>C (p.Met2053Ile) c.6045G>C (p.Met2015Ile) c.6114G>C (p.Met2038Ile) c.5742G>C (p.Met1914Ile) c.5898G>C (p.Met1966Ile) c.6105G>C (p.Met2035Ile) c.5406G>C (p.Met1802Ile) c.6153G>C (p.Met2051Ile) | |
16 | g.3728888C>T | CA394554032 | CREBBP | c.6159G>A (p.Met2053Ile) c.6045G>A (p.Met2015Ile) c.6114G>A (p.Met2038Ile) c.5742G>A (p.Met1914Ile) c.5898G>A (p.Met1966Ile) c.6105G>A (p.Met2035Ile) c.5406G>A (p.Met1802Ile) c.6153G>A (p.Met2051Ile) | |
16 | g.3728889A>C | CA394554034 | CREBBP | c.6158T>G (p.Met2053Arg) c.6044T>G (p.Met2015Arg) c.6113T>G (p.Met2038Arg) c.5741T>G (p.Met1914Arg) c.5897T>G (p.Met1966Arg) c.6104T>G (p.Met2035Arg) c.5405T>G (p.Met1802Arg) c.6152T>G (p.Met2051Arg) | |
16 | g.3728889A>G | CA394554036 | CREBBP | c.6158T>C (p.Met2053Thr) c.6044T>C (p.Met2015Thr) c.6113T>C (p.Met2038Thr) c.5741T>C (p.Met1914Thr) c.5897T>C (p.Met1966Thr) c.6104T>C (p.Met2035Thr) c.5405T>C (p.Met1802Thr) c.6152T>C (p.Met2051Thr) | gnomAD v4 |
16 | g.3728889A>T | CA394554038 | CREBBP | c.6158T>A (p.Met2053Lys) c.6044T>A (p.Met2015Lys) c.6113T>A (p.Met2038Lys) c.5741T>A (p.Met1914Lys) c.5897T>A (p.Met1966Lys) c.6104T>A (p.Met2035Lys) c.5405T>A (p.Met1802Lys) c.6152T>A (p.Met2051Lys) | dbSNP |
16 | g.3728890T>A | CA394554040 | CREBBP | c.6157A>T (p.Met2053Leu) c.6043A>T (p.Met2015Leu) c.6112A>T (p.Met2038Leu) c.5740A>T (p.Met1914Leu) c.5896A>T (p.Met1966Leu) c.6103A>T (p.Met2035Leu) c.5404A>T (p.Met1802Leu) c.6151A>T (p.Met2051Leu) | dbSNP |
16 | g.3728890T>C | CA7869167 | CREBBP | c.6157A>G (p.Met2053Val) c.6043A>G (p.Met2015Val) c.6112A>G (p.Met2038Val) c.5740A>G (p.Met1914Val) c.5896A>G (p.Met1966Val) c.6103A>G (p.Met2035Val) c.5404A>G (p.Met1802Val) c.6151A>G (p.Met2051Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.3728890T>G | CA394554042 | CREBBP | c.6157A>C (p.Met2053Leu) c.6043A>C (p.Met2015Leu) c.6112A>C (p.Met2038Leu) c.5740A>C (p.Met1914Leu) c.5896A>C (p.Met1966Leu) c.6103A>C (p.Met2035Leu) c.5404A>C (p.Met1802Leu) c.6151A>C (p.Met2051Leu) | |
16 | g.3728890T= | CA2202916100 | CREBBP | c.6157A= (p.Met2053=) c.6043A= (p.Met2015=) c.6112A= (p.Met2038=) c.5740A= (p.Met1914=) c.5896A= (p.Met1966=) c.6103A= (p.Met2035=) c.5404A= (p.Met1802=) c.6151A= (p.Met2051=) | |
16 | g.3728891C>A | CA493393765 | CREBBP | c.6156G>T (p.Arg2052=) c.6042G>T (p.Arg2014=) c.6111G>T (p.Arg2037=) c.5739G>T (p.Arg1913=) c.5895G>T (p.Arg1965=) c.6102G>T (p.Arg2034=) c.5403G>T (p.Arg1801=) c.6150G>T (p.Arg2050=) | gnomAD v4 |
16 | g.3728891C>G | CA493393766 | CREBBP | c.6156G>C (p.Arg2052=) c.6042G>C (p.Arg2014=) c.6111G>C (p.Arg2037=) c.5739G>C (p.Arg1913=) c.5895G>C (p.Arg1965=) c.6102G>C (p.Arg2034=) c.5403G>C (p.Arg1801=) c.6150G>C (p.Arg2050=) | dbSNP gnomAD v4 |
16 | g.3728891C>T | CA493393767 | CREBBP | c.6156G>A (p.Arg2052=) c.6042G>A (p.Arg2014=) c.6111G>A (p.Arg2037=) c.5739G>A (p.Arg1913=) c.5895G>A (p.Arg1965=) c.6102G>A (p.Arg2034=) c.5403G>A (p.Arg1801=) c.6150G>A (p.Arg2050=) | dbSNP |
16 | g.3728892C>A | CA7869168 | CREBBP | c.6155G>T (p.Arg2052Leu) c.6041G>T (p.Arg2014Leu) c.6110G>T (p.Arg2037Leu) c.5738G>T (p.Arg1913Leu) c.5894G>T (p.Arg1965Leu) c.6101G>T (p.Arg2034Leu) c.5402G>T (p.Arg1801Leu) c.6149G>T (p.Arg2050Leu) | dbSNP ExAC gnomAD v4 |
16 | g.3728892C= | CA2202916101 | CREBBP | c.6155G= (p.Arg2052=) c.6041G= (p.Arg2014=) c.6110G= (p.Arg2037=) c.5738G= (p.Arg1913=) c.5894G= (p.Arg1965=) c.6101G= (p.Arg2034=) c.5402G= (p.Arg1801=) c.6149G= (p.Arg2050=) | |
16 | g.3728892C>G | CA394554046 | CREBBP | c.6155G>C (p.Arg2052Pro) c.6041G>C (p.Arg2014Pro) c.6110G>C (p.Arg2037Pro) c.5738G>C (p.Arg1913Pro) c.5894G>C (p.Arg1965Pro) c.6101G>C (p.Arg2034Pro) c.5402G>C (p.Arg1801Pro) c.6149G>C (p.Arg2050Pro) | dbSNP |
16 | g.3728892C>T | CA276971747 | CREBBP | c.6155G>A (p.Arg2052Gln) c.6041G>A (p.Arg2014Gln) c.6110G>A (p.Arg2037Gln) c.5738G>A (p.Arg1913Gln) c.5894G>A (p.Arg1965Gln) c.6101G>A (p.Arg2034Gln) c.5402G>A (p.Arg1801Gln) c.6149G>A (p.Arg2050Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3728893G>A | CA394554050 | CREBBP | c.6154C>T (p.Arg2052Trp) c.6040C>T (p.Arg2014Trp) c.6109C>T (p.Arg2037Trp) c.5737C>T (p.Arg1913Trp) c.5893C>T (p.Arg1965Trp) c.6100C>T (p.Arg2034Trp) c.5401C>T (p.Arg1801Trp) c.6148C>T (p.Arg2050Trp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.3728893G>C | CA394554048 | CREBBP | c.6154C>G (p.Arg2052Gly) c.6040C>G (p.Arg2014Gly) c.6109C>G (p.Arg2037Gly) c.5737C>G (p.Arg1913Gly) c.5893C>G (p.Arg1965Gly) c.6100C>G (p.Arg2034Gly) c.5401C>G (p.Arg1801Gly) c.6148C>G (p.Arg2050Gly) | dbSNP gnomAD v4 |
16 | g.3728893G= | CA2202916102 | CREBBP | c.6154C= (p.Arg2052=) c.6040C= (p.Arg2014=) c.6109C= (p.Arg2037=) c.5737C= (p.Arg1913=) c.5893C= (p.Arg1965=) c.6100C= (p.Arg2034=) c.5401C= (p.Arg1801=) c.6148C= (p.Arg2050=) | |
16 | g.3728893G>T | CA493393791 | CREBBP | c.6154C>A (p.Arg2052=) c.6040C>A (p.Arg2014=) c.6109C>A (p.Arg2037=) c.5737C>A (p.Arg1913=) c.5893C>A (p.Arg1965=) c.6100C>A (p.Arg2034=) c.5401C>A (p.Arg1801=) c.6148C>A (p.Arg2050=) | dbSNP gnomAD v4 |
16 | g.3728894G>A | CA493393792 | CREBBP | c.6153C>T (p.Pro2051=) c.6039C>T (p.Pro2013=) c.6108C>T (p.Pro2036=) c.5736C>T (p.Pro1912=) c.5892C>T (p.Pro1964=) c.6099C>T (p.Pro2033=) c.5400C>T (p.Pro1800=) c.6147C>T (p.Pro2049=) | dbSNP gnomAD v2 |
16 | g.3728894G>C | CA493393793 | CREBBP | c.6153C>G (p.Pro2051=) c.6039C>G (p.Pro2013=) c.6108C>G (p.Pro2036=) c.5736C>G (p.Pro1912=) c.5892C>G (p.Pro1964=) c.6099C>G (p.Pro2033=) c.5400C>G (p.Pro1800=) c.6147C>G (p.Pro2049=) | dbSNP |
16 | g.3728894G= | CA2202916103 | CREBBP | c.6153C= (p.Pro2051=) c.6039C= (p.Pro2013=) c.6108C= (p.Pro2036=) c.5736C= (p.Pro1912=) c.5892C= (p.Pro1964=) c.6099C= (p.Pro2033=) c.5400C= (p.Pro1800=) c.6147C= (p.Pro2049=) | |
16 | g.3728894G>T | CA276971750 | CREBBP | c.6153C>A (p.Pro2051=) c.6039C>A (p.Pro2013=) c.6108C>A (p.Pro2036=) c.5736C>A (p.Pro1912=) c.5892C>A (p.Pro1964=) c.6099C>A (p.Pro2033=) c.5400C>A (p.Pro1800=) c.6147C>A (p.Pro2049=) | dbSNP |
16 | g.3728895G>A | CA394554053 | CREBBP | c.6152C>T (p.Pro2051Leu) c.6038C>T (p.Pro2013Leu) c.6107C>T (p.Pro2036Leu) c.5735C>T (p.Pro1912Leu) c.5891C>T (p.Pro1964Leu) c.6098C>T (p.Pro2033Leu) c.5399C>T (p.Pro1800Leu) c.6146C>T (p.Pro2049Leu) | gnomAD v4 |
16 | g.3728895G>C | CA394554057 | CREBBP | c.6152C>G (p.Pro2051Arg) c.6038C>G (p.Pro2013Arg) c.6107C>G (p.Pro2036Arg) c.5735C>G (p.Pro1912Arg) c.5891C>G (p.Pro1964Arg) c.6098C>G (p.Pro2033Arg) c.5399C>G (p.Pro1800Arg) c.6146C>G (p.Pro2049Arg) | gnomAD v4 |
16 | g.3728895G>T | CA394554054 | CREBBP | c.6152C>A (p.Pro2051His) c.6038C>A (p.Pro2013His) c.6107C>A (p.Pro2036His) c.5735C>A (p.Pro1912His) c.5891C>A (p.Pro1964His) c.6098C>A (p.Pro2033His) c.5399C>A (p.Pro1800His) c.6146C>A (p.Pro2049His) | gnomAD v4 COSMIC |
16 | g.3728896G>A | CA394554060 | CREBBP | c.6151C>T (p.Pro2051Ser) c.6037C>T (p.Pro2013Ser) c.6106C>T (p.Pro2036Ser) c.5734C>T (p.Pro1912Ser) c.5890C>T (p.Pro1964Ser) c.6097C>T (p.Pro2033Ser) c.5398C>T (p.Pro1800Ser) c.6145C>T (p.Pro2049Ser) | |
16 | g.3728896G>C | CA394554061 | CREBBP | c.6151C>G (p.Pro2051Ala) c.6037C>G (p.Pro2013Ala) c.6106C>G (p.Pro2036Ala) c.5734C>G (p.Pro1912Ala) c.5890C>G (p.Pro1964Ala) c.6097C>G (p.Pro2033Ala) c.5398C>G (p.Pro1800Ala) c.6145C>G (p.Pro2049Ala) | gnomAD v4 |
16 | g.3728896G>T | CA394554063 | CREBBP | c.6151C>A (p.Pro2051Thr) c.6037C>A (p.Pro2013Thr) c.6106C>A (p.Pro2036Thr) c.5734C>A (p.Pro1912Thr) c.5890C>A (p.Pro1964Thr) c.6097C>A (p.Pro2033Thr) c.5398C>A (p.Pro1800Thr) c.6145C>A (p.Pro2049Thr) | gnomAD v4 |
16 | g.3728897C>A | CA493393798 | CREBBP | c.6150G>T (p.Gly2050=) c.6036G>T (p.Gly2012=) c.6105G>T (p.Gly2035=) c.5733G>T (p.Gly1911=) c.5889G>T (p.Gly1963=) c.6096G>T (p.Gly2032=) c.5397G>T (p.Gly1799=) c.6144G>T (p.Gly2048=) | |
16 | g.3728897C>G | CA493393799 | CREBBP | c.6150G>C (p.Gly2050=) c.6036G>C (p.Gly2012=) c.6105G>C (p.Gly2035=) c.5733G>C (p.Gly1911=) c.5889G>C (p.Gly1963=) c.6096G>C (p.Gly2032=) c.5397G>C (p.Gly1799=) c.6144G>C (p.Gly2048=) | |
16 | g.3728897C>T | CA493393800 | CREBBP | c.6150G>A (p.Gly2050=) c.6036G>A (p.Gly2012=) c.6105G>A (p.Gly2035=) c.5733G>A (p.Gly1911=) c.5889G>A (p.Gly1963=) c.6096G>A (p.Gly2032=) c.5397G>A (p.Gly1799=) c.6144G>A (p.Gly2048=) | |
16 | g.3728899dup | CA645575156 | CREBBP | c.6150dup (p.Pro2051AlafsTer?) c.6036dup (p.Pro2013AlafsTer?) c.6105dup (p.Pro2036AlafsTer?) c.5733dup (p.Pro1912AlafsTer?) c.5889dup (p.Pro1964AlafsTer?) c.6096dup (p.Pro2033AlafsTer?) c.5397dup (p.Pro1800AlafsTer?) c.6144dup (p.Pro2049AlafsTer?) | COSMIC |
16 | g.3728898C>A | CA394554064 | CREBBP | c.6149G>T (p.Gly2050Val) c.6035G>T (p.Gly2012Val) c.6104G>T (p.Gly2035Val) c.5732G>T (p.Gly1911Val) c.5888G>T (p.Gly1963Val) c.6095G>T (p.Gly2032Val) c.5396G>T (p.Gly1799Val) c.6143G>T (p.Gly2048Val) | dbSNP |
16 | g.3728898C= | CA2202916104 | CREBBP | c.6149G= (p.Gly2050=) c.6035G= (p.Gly2012=) c.6104G= (p.Gly2035=) c.5732G= (p.Gly1911=) c.5888G= (p.Gly1963=) c.6095G= (p.Gly2032=) c.5396G= (p.Gly1799=) c.6143G= (p.Gly2048=) | |
16 | g.3728898C>G | CA394554065 | CREBBP | c.6149G>C (p.Gly2050Ala) c.6035G>C (p.Gly2012Ala) c.6104G>C (p.Gly2035Ala) c.5732G>C (p.Gly1911Ala) c.5888G>C (p.Gly1963Ala) c.6095G>C (p.Gly2032Ala) c.5396G>C (p.Gly1799Ala) c.6143G>C (p.Gly2048Ala) | dbSNP |
16 | g.3728898C>T | CA394554067 | CREBBP | c.6149G>A (p.Gly2050Glu) c.6035G>A (p.Gly2012Glu) c.6104G>A (p.Gly2035Glu) c.5732G>A (p.Gly1911Glu) c.5888G>A (p.Gly1963Glu) c.6095G>A (p.Gly2032Glu) c.5396G>A (p.Gly1799Glu) c.6143G>A (p.Gly2048Glu) | dbSNP gnomAD v2 |
16 | g.3728899C>A | CA394554069 | CREBBP | c.6148G>T (p.Gly2050Trp) c.6034G>T (p.Gly2012Trp) c.6103G>T (p.Gly2035Trp) c.5731G>T (p.Gly1911Trp) c.5887G>T (p.Gly1963Trp) c.6094G>T (p.Gly2032Trp) c.5395G>T (p.Gly1799Trp) c.6142G>T (p.Gly2048Trp) | |
16 | g.3728899C= | CA2202916105 | CREBBP | c.6148G= (p.Gly2050=) c.6034G= (p.Gly2012=) c.6103G= (p.Gly2035=) c.5731G= (p.Gly1911=) c.5887G= (p.Gly1963=) c.6094G= (p.Gly2032=) c.5395G= (p.Gly1799=) c.6142G= (p.Gly2048=) | |
16 | g.3728899C>G | CA394554070 | CREBBP | c.6148G>C (p.Gly2050Arg) c.6034G>C (p.Gly2012Arg) c.6103G>C (p.Gly2035Arg) c.5731G>C (p.Gly1911Arg) c.5887G>C (p.Gly1963Arg) c.6094G>C (p.Gly2032Arg) c.5395G>C (p.Gly1799Arg) c.6142G>C (p.Gly2048Arg) | dbSNP |
16 | g.3728899C>T | CA7869169 | CREBBP | c.6148G>A (p.Gly2050Arg) c.6034G>A (p.Gly2012Arg) c.6103G>A (p.Gly2035Arg) c.5731G>A (p.Gly1911Arg) c.5887G>A (p.Gly1963Arg) c.6094G>A (p.Gly2032Arg) c.5395G>A (p.Gly1799Arg) c.6142G>A (p.Gly2048Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3728900A>C | CA493393801 | CREBBP | c.6147T>G (p.Ala2049=) c.6033T>G (p.Ala2011=) c.6102T>G (p.Ala2034=) c.5730T>G (p.Ala1910=) c.5886T>G (p.Ala1962=) c.6093T>G (p.Ala2031=) c.5394T>G (p.Ala1798=) c.6141T>G (p.Ala2047=) | dbSNP |
16 | g.3728900A>G | CA493393803 | CREBBP | c.6147T>C (p.Ala2049=) c.6033T>C (p.Ala2011=) c.6102T>C (p.Ala2034=) c.5730T>C (p.Ala1910=) c.5886T>C (p.Ala1962=) c.6093T>C (p.Ala2031=) c.5394T>C (p.Ala1798=) c.6141T>C (p.Ala2047=) | dbSNP |
16 | g.3728900A>T | CA493393802 | CREBBP | c.6147T>A (p.Ala2049=) c.6033T>A (p.Ala2011=) c.6102T>A (p.Ala2034=) c.5730T>A (p.Ala1910=) c.5886T>A (p.Ala1962=) c.6093T>A (p.Ala2031=) c.5394T>A (p.Ala1798=) c.6141T>A (p.Ala2047=) | dbSNP |
16 | g.3728901G>A | CA7869170 | CREBBP | c.6146C>T (p.Ala2049Val) c.6032C>T (p.Ala2011Val) c.6101C>T (p.Ala2034Val) c.5729C>T (p.Ala1910Val) c.5885C>T (p.Ala1962Val) c.6092C>T (p.Ala2031Val) c.5393C>T (p.Ala1798Val) c.6140C>T (p.Ala2047Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.3728901G>C | CA394554074 | CREBBP | c.6146C>G (p.Ala2049Gly) c.6032C>G (p.Ala2011Gly) c.6101C>G (p.Ala2034Gly) c.5729C>G (p.Ala1910Gly) c.5885C>G (p.Ala1962Gly) c.6092C>G (p.Ala2031Gly) c.5393C>G (p.Ala1798Gly) c.6140C>G (p.Ala2047Gly) | |
16 | g.3728901G= | CA2202916106 | CREBBP | c.6146C= (p.Ala2049=) c.6032C= (p.Ala2011=) c.6101C= (p.Ala2034=) c.5729C= (p.Ala1910=) c.5885C= (p.Ala1962=) c.6092C= (p.Ala2031=) c.5393C= (p.Ala1798=) c.6140C= (p.Ala2047=) | |
16 | g.3728901G>T | CA276971757 | CREBBP | c.6146C>A (p.Ala2049Asp) c.6032C>A (p.Ala2011Asp) c.6101C>A (p.Ala2034Asp) c.5729C>A (p.Ala1910Asp) c.5885C>A (p.Ala1962Asp) c.6092C>A (p.Ala2031Asp) c.5393C>A (p.Ala1798Asp) c.6140C>A (p.Ala2047Asp) | dbSNP gnomAD v4 COSMIC |
16 | g.3728902C>A | CA394554077 | CREBBP | c.6145G>T (p.Ala2049Ser) c.6031G>T (p.Ala2011Ser) c.6100G>T (p.Ala2034Ser) c.5728G>T (p.Ala1910Ser) c.5884G>T (p.Ala1962Ser) c.6091G>T (p.Ala2031Ser) c.5392G>T (p.Ala1798Ser) c.6139G>T (p.Ala2047Ser) | gnomAD v4 |
16 | g.3728902C= | CA2202916107 | CREBBP | c.6145G= (p.Ala2049=) c.6031G= (p.Ala2011=) c.6100G= (p.Ala2034=) c.5728G= (p.Ala1910=) c.5884G= (p.Ala1962=) c.6091G= (p.Ala2031=) c.5392G= (p.Ala1798=) c.6139G= (p.Ala2047=) | |
16 | g.3728902C>G | CA7869171 | CREBBP | c.6145G>C (p.Ala2049Pro) c.6031G>C (p.Ala2011Pro) c.6100G>C (p.Ala2034Pro) c.5728G>C (p.Ala1910Pro) c.5884G>C (p.Ala1962Pro) c.6091G>C (p.Ala2031Pro) c.5392G>C (p.Ala1798Pro) c.6139G>C (p.Ala2047Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.3728902C>T | CA394554079 | CREBBP | c.6145G>A (p.Ala2049Thr) c.6031G>A (p.Ala2011Thr) c.6100G>A (p.Ala2034Thr) c.5728G>A (p.Ala1910Thr) c.5884G>A (p.Ala1962Thr) c.6091G>A (p.Ala2031Thr) c.5392G>A (p.Ala1798Thr) c.6139G>A (p.Ala2047Thr) | gnomAD v4 |
16 | g.3728903del | CA2731850866 | CREBBP | c.6145del (p.Ala2049LeufsTer26) c.6031del (p.Ala2011LeufsTer26) c.6100del (p.Ala2034LeufsTer26) c.5728del (p.Ala1910LeufsTer26) c.5884del (p.Ala1962LeufsTer26) c.6091del (p.Ala2031LeufsTer26) c.5392del (p.Ala1798LeufsTer26) c.6139del (p.Ala2047LeufsTer26) | dbSNP |
16 | g.3728903C>A | CA493393807 | CREBBP | c.6144G>T (p.Val2048=) c.6030G>T (p.Val2010=) c.6099G>T (p.Val2033=) c.5727G>T (p.Val1909=) c.5883G>T (p.Val1961=) c.6090G>T (p.Val2030=) c.5391G>T (p.Val1797=) c.6138G>T (p.Val2046=) | |
16 | g.3728903C>G | CA493393808 | CREBBP | c.6144G>C (p.Val2048=) c.6030G>C (p.Val2010=) c.6099G>C (p.Val2033=) c.5727G>C (p.Val1909=) c.5883G>C (p.Val1961=) c.6090G>C (p.Val2030=) c.5391G>C (p.Val1797=) c.6138G>C (p.Val2046=) | dbSNP gnomAD v4 |
16 | g.3728903C>T | CA493393809 | CREBBP | c.6144G>A (p.Val2048=) c.6030G>A (p.Val2010=) c.6099G>A (p.Val2033=) c.5727G>A (p.Val1909=) c.5883G>A (p.Val1961=) c.6090G>A (p.Val2030=) c.5391G>A (p.Val1797=) c.6138G>A (p.Val2046=) | |
16 | g.3728904A>C | CA394554082 | CREBBP | c.6143T>G (p.Val2048Gly) c.6029T>G (p.Val2010Gly) c.6098T>G (p.Val2033Gly) c.5726T>G (p.Val1909Gly) c.5882T>G (p.Val1961Gly) c.6089T>G (p.Val2030Gly) c.5390T>G (p.Val1797Gly) c.6137T>G (p.Val2046Gly) | dbSNP |
16 | g.3728904A>G | CA394554084 | CREBBP | c.6143T>C (p.Val2048Ala) c.6029T>C (p.Val2010Ala) c.6098T>C (p.Val2033Ala) c.5726T>C (p.Val1909Ala) c.5882T>C (p.Val1961Ala) c.6089T>C (p.Val2030Ala) c.5390T>C (p.Val1797Ala) c.6137T>C (p.Val2046Ala) | dbSNP |
16 | g.3728904A>T | CA394554086 | CREBBP | c.6143T>A (p.Val2048Glu) c.6029T>A (p.Val2010Glu) c.6098T>A (p.Val2033Glu) c.5726T>A (p.Val1909Glu) c.5882T>A (p.Val1961Glu) c.6089T>A (p.Val2030Glu) c.5390T>A (p.Val1797Glu) c.6137T>A (p.Val2046Glu) | dbSNP |
16 | g.3728905C>A | CA394554088 | CREBBP | c.6142G>T (p.Val2048Leu) c.6028G>T (p.Val2010Leu) c.6097G>T (p.Val2033Leu) c.5725G>T (p.Val1909Leu) c.5881G>T (p.Val1961Leu) c.6088G>T (p.Val2030Leu) c.5389G>T (p.Val1797Leu) c.6136G>T (p.Val2046Leu) | gnomAD v4 |
16 | g.3728905C= | CA2202916108 | CREBBP | c.6142G= (p.Val2048=) c.6028G= (p.Val2010=) c.6097G= (p.Val2033=) c.5725G= (p.Val1909=) c.5881G= (p.Val1961=) c.6088G= (p.Val2030=) c.5389G= (p.Val1797=) c.6136G= (p.Val2046=) | |
16 | g.3728905C>G | CA394554090 | CREBBP | c.6142G>C (p.Val2048Leu) c.6028G>C (p.Val2010Leu) c.6097G>C (p.Val2033Leu) c.5725G>C (p.Val1909Leu) c.5881G>C (p.Val1961Leu) c.6088G>C (p.Val2030Leu) c.5389G>C (p.Val1797Leu) c.6136G>C (p.Val2046Leu) | dbSNP |
16 | g.3728905C>T | CA7869172 | CREBBP | c.6142G>A (p.Val2048Met) c.6028G>A (p.Val2010Met) c.6097G>A (p.Val2033Met) c.5725G>A (p.Val1909Met) c.5881G>A (p.Val1961Met) c.6088G>A (p.Val2030Met) c.5389G>A (p.Val1797Met) c.6136G>A (p.Val2046Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.3728905_3728906insT | CA645575157 | CREBBP | c.6141_6142insA (p.Val2048SerfsTer?) c.6027_6028insA (p.Val2010SerfsTer?) c.6096_6097insA (p.Val2033SerfsTer?) c.5724_5725insA (p.Val1909SerfsTer?) c.5880_5881insA (p.Val1961SerfsTer?) c.6087_6088insA (p.Val2030SerfsTer?) c.5388_5389insA (p.Val1797SerfsTer?) c.6135_6136insA (p.Val2046SerfsTer?) | COSMIC |
16 | g.3728906G>A | CA7869173 | CREBBP | c.6141C>T (p.Ala2047=) c.6027C>T (p.Ala2009=) c.6096C>T (p.Ala2032=) c.5724C>T (p.Ala1908=) c.5880C>T (p.Ala1960=) c.6087C>T (p.Ala2029=) c.5388C>T (p.Ala1796=) c.6135C>T (p.Ala2045=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3728906G>C | CA493393815 | CREBBP | c.6141C>G (p.Ala2047=) c.6027C>G (p.Ala2009=) c.6096C>G (p.Ala2032=) c.5724C>G (p.Ala1908=) c.5880C>G (p.Ala1960=) c.6087C>G (p.Ala2029=) c.5388C>G (p.Ala1796=) c.6135C>G (p.Ala2045=) | |
16 | g.3728906G= | CA2202916109 | CREBBP | c.6141C= (p.Ala2047=) c.6027C= (p.Ala2009=) c.6096C= (p.Ala2032=) c.5724C= (p.Ala1908=) c.5880C= (p.Ala1960=) c.6087C= (p.Ala2029=) c.5388C= (p.Ala1796=) c.6135C= (p.Ala2045=) | |
16 | g.3728906G>T | CA493393816 | CREBBP | c.6141C>A (p.Ala2047=) c.6027C>A (p.Ala2009=) c.6096C>A (p.Ala2032=) c.5724C>A (p.Ala1908=) c.5880C>A (p.Ala1960=) c.6087C>A (p.Ala2029=) c.5388C>A (p.Ala1796=) c.6135C>A (p.Ala2045=) | gnomAD v4 |
16 | g.3728907G>A | CA394554095 | CREBBP | c.6140C>T (p.Ala2047Val) c.6026C>T (p.Ala2009Val) c.6095C>T (p.Ala2032Val) c.5723C>T (p.Ala1908Val) c.5879C>T (p.Ala1960Val) c.6086C>T (p.Ala2029Val) c.5387C>T (p.Ala1796Val) c.6134C>T (p.Ala2045Val) | dbSNP |
16 | g.3728907G>C | CA394554097 | CREBBP | c.6140C>G (p.Ala2047Gly) c.6026C>G (p.Ala2009Gly) c.6095C>G (p.Ala2032Gly) c.5723C>G (p.Ala1908Gly) c.5879C>G (p.Ala1960Gly) c.6086C>G (p.Ala2029Gly) c.5387C>G (p.Ala1796Gly) c.6134C>G (p.Ala2045Gly) | dbSNP |
16 | g.3728907G>T | CA394554098 | CREBBP | c.6140C>A (p.Ala2047Asp) c.6026C>A (p.Ala2009Asp) c.6095C>A (p.Ala2032Asp) c.5723C>A (p.Ala1908Asp) c.5879C>A (p.Ala1960Asp) c.6086C>A (p.Ala2029Asp) c.5387C>A (p.Ala1796Asp) c.6134C>A (p.Ala2045Asp) | dbSNP |
16 | g.3728908C>A | CA394554103 | CREBBP | c.6139G>T (p.Ala2047Ser) c.6025G>T (p.Ala2009Ser) c.6094G>T (p.Ala2032Ser) c.5722G>T (p.Ala1908Ser) c.5878G>T (p.Ala1960Ser) c.6085G>T (p.Ala2029Ser) c.5386G>T (p.Ala1796Ser) c.6133G>T (p.Ala2045Ser) | dbSNP |
16 | g.3728908C>G | CA394554104 | CREBBP | c.6139G>C (p.Ala2047Pro) c.6025G>C (p.Ala2009Pro) c.6094G>C (p.Ala2032Pro) c.5722G>C (p.Ala1908Pro) c.5878G>C (p.Ala1960Pro) c.6085G>C (p.Ala2029Pro) c.5386G>C (p.Ala1796Pro) c.6133G>C (p.Ala2045Pro) | dbSNP |
16 | g.3728908C>T | CA394554101 | CREBBP | c.6139G>A (p.Ala2047Thr) c.6025G>A (p.Ala2009Thr) c.6094G>A (p.Ala2032Thr) c.5722G>A (p.Ala1908Thr) c.5878G>A (p.Ala1960Thr) c.6085G>A (p.Ala2029Thr) c.5386G>A (p.Ala1796Thr) c.6133G>A (p.Ala2045Thr) | dbSNP |
16 | g.3728909C>A | CA7869175 | CREBBP | c.6138G>T (p.Ala2046=) c.6024G>T (p.Ala2008=) c.6093G>T (p.Ala2031=) c.5721G>T (p.Ala1907=) c.5877G>T (p.Ala1959=) c.6084G>T (p.Ala2028=) c.5385G>T (p.Ala1795=) c.6132G>T (p.Ala2044=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3728909C= | CA2202916111 | CREBBP | c.6138G= (p.Ala2046=) c.6024G= (p.Ala2008=) c.6093G= (p.Ala2031=) c.5721G= (p.Ala1907=) c.5877G= (p.Ala1959=) c.6084G= (p.Ala2028=) c.5385G= (p.Ala1795=) c.6132G= (p.Ala2044=) | |
16 | g.3728909C>G | CA493393818 | CREBBP | c.6138G>C (p.Ala2046=) c.6024G>C (p.Ala2008=) c.6093G>C (p.Ala2031=) c.5721G>C (p.Ala1907=) c.5877G>C (p.Ala1959=) c.6084G>C (p.Ala2028=) c.5385G>C (p.Ala1795=) c.6132G>C (p.Ala2044=) | |
16 | g.3728909C>T | CA7869174 | CREBBP | c.6138G>A (p.Ala2046=) c.6024G>A (p.Ala2008=) c.6093G>A (p.Ala2031=) c.5721G>A (p.Ala1907=) c.5877G>A (p.Ala1959=) c.6084G>A (p.Ala2028=) c.5385G>A (p.Ala1795=) c.6132G>A (p.Ala2044=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3728909_3728934delinsCGCCTGGGCCTGCATGGATATCACAG | CA2202916110 | CREBBP | c.6113_6138delinsCTGTGATATCCATGCAGGCCCAGGCG (p.Pro2038=) c.5999_6024delinsCTGTGATATCCATGCAGGCCCAGGCG (p.Pro2000=) c.6068_6093delinsCTGTGATATCCATGCAGGCCCAGGCG (p.Pro2023=) c.5696_5721delinsCTGTGATATCCATGCAGGCCCAGGCG (p.Pro1899=) c.5852_5877delinsCTGTGATATCCATGCAGGCCCAGGCG (p.Pro1951=) c.6059_6084delinsCTGTGATATCCATGCAGGCCCAGGCG (p.Pro2020=) c.5360_5385delinsCTGTGATATCCATGCAGGCCCAGGCG (p.Pro1787=) c.6107_6132delinsCTGTGATATCCATGCAGGCCCAGGCG (p.Pro2036=) | |
16 | g.3728910G>A | CA7869177 | CREBBP | c.6137C>T (p.Ala2046Val) c.6023C>T (p.Ala2008Val) c.6092C>T (p.Ala2031Val) c.5720C>T (p.Ala1907Val) c.5876C>T (p.Ala1959Val) c.6083C>T (p.Ala2028Val) c.5384C>T (p.Ala1795Val) c.6131C>T (p.Ala2044Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3728910G>C | CA394554108 | CREBBP | c.6137C>G (p.Ala2046Gly) c.6023C>G (p.Ala2008Gly) c.6092C>G (p.Ala2031Gly) c.5720C>G (p.Ala1907Gly) c.5876C>G (p.Ala1959Gly) c.6083C>G (p.Ala2028Gly) c.5384C>G (p.Ala1795Gly) c.6131C>G (p.Ala2044Gly) | dbSNP |
16 | g.3728910G= | CA2202916112 | CREBBP | c.6137C= (p.Ala2046=) c.6023C= (p.Ala2008=) c.6092C= (p.Ala2031=) c.5720C= (p.Ala1907=) c.5876C= (p.Ala1959=) c.6083C= (p.Ala2028=) c.5384C= (p.Ala1795=) c.6131C= (p.Ala2044=) | |
16 | g.3728910G>T | CA7869176 | CREBBP | c.6137C>A (p.Ala2046Glu) c.6023C>A (p.Ala2008Glu) c.6092C>A (p.Ala2031Glu) c.5720C>A (p.Ala1907Glu) c.5876C>A (p.Ala1959Glu) c.6083C>A (p.Ala2028Glu) c.5384C>A (p.Ala1795Glu) c.6131C>A (p.Ala2044Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.3728918_3728942dup | CA915949062 | CREBBP | c.6113_6137dup (p.Ala2047CysfsTer?) c.5999_6023dup (p.Ala2009CysfsTer?) c.6068_6092dup (p.Ala2032CysfsTer?) c.5696_5720dup (p.Ala1908CysfsTer?) c.5852_5876dup (p.Ala1960CysfsTer?) c.6059_6083dup (p.Ala2029CysfsTer?) c.5360_5384dup (p.Ala1796CysfsTer?) c.6107_6131dup (p.Ala2045CysfsTer?) | ClinVar dbSNP |
16 | g.3728918_3728942del | CA915949063 | CREBBP | c.6113_6137del (p.Pro2038ArgfsTer29) c.5999_6023del (p.Pro2000ArgfsTer29) c.6068_6092del (p.Pro2023ArgfsTer29) c.5696_5720del (p.Pro1899ArgfsTer29) c.5852_5876del (p.Pro1951ArgfsTer29) c.6059_6083del (p.Pro2020ArgfsTer29) c.5360_5384del (p.Pro1787ArgfsTer29) c.6107_6131del (p.Pro2036ArgfsTer29) | ClinVar dbSNP |
16 | g.3728911C>A | CA394554111 | CREBBP | c.6136G>T (p.Ala2046Ser) c.6022G>T (p.Ala2008Ser) c.6091G>T (p.Ala2031Ser) c.5719G>T (p.Ala1907Ser) c.5875G>T (p.Ala1959Ser) c.6082G>T (p.Ala2028Ser) c.5383G>T (p.Ala1795Ser) c.6130G>T (p.Ala2044Ser) | gnomAD v4 |
16 | g.3728911C>G | CA394554113 | CREBBP | c.6136G>C (p.Ala2046Pro) c.6022G>C (p.Ala2008Pro) c.6091G>C (p.Ala2031Pro) c.5719G>C (p.Ala1907Pro) c.5875G>C (p.Ala1959Pro) c.6082G>C (p.Ala2028Pro) c.5383G>C (p.Ala1795Pro) c.6130G>C (p.Ala2044Pro) | dbSNP |
16 | g.3728911C>T | CA394554115 | CREBBP | c.6136G>A (p.Ala2046Thr) c.6022G>A (p.Ala2008Thr) c.6091G>A (p.Ala2031Thr) c.5719G>A (p.Ala1907Thr) c.5875G>A (p.Ala1959Thr) c.6082G>A (p.Ala2028Thr) c.5383G>A (p.Ala1795Thr) c.6130G>A (p.Ala2044Thr) | |
16 | g.3728912C>A | CA394554117 | CREBBP | c.6135G>T (p.Gln2045His) c.6021G>T (p.Gln2007His) c.6090G>T (p.Gln2030His) c.5718G>T (p.Gln1906His) c.5874G>T (p.Gln1958His) c.6081G>T (p.Gln2027His) c.5382G>T (p.Gln1794His) c.6129G>T (p.Gln2043His) | |
16 | g.3728912C>G | CA394554119 | CREBBP | c.6135G>C (p.Gln2045His) c.6021G>C (p.Gln2007His) c.6090G>C (p.Gln2030His) c.5718G>C (p.Gln1906His) c.5874G>C (p.Gln1958His) c.6081G>C (p.Gln2027His) c.5382G>C (p.Gln1794His) c.6129G>C (p.Gln2043His) | dbSNP |
16 | g.3728912C>T | CA493393823 | CREBBP | c.6135G>A (p.Gln2045=) c.6021G>A (p.Gln2007=) c.6090G>A (p.Gln2030=) c.5718G>A (p.Gln1906=) c.5874G>A (p.Gln1958=) c.6081G>A (p.Gln2027=) c.5382G>A (p.Gln1794=) c.6129G>A (p.Gln2043=) | dbSNP |
16 | g.3728913T>A | CA394554120 | CREBBP | c.6134A>T (p.Gln2045Leu) c.6020A>T (p.Gln2007Leu) c.6089A>T (p.Gln2030Leu) c.5717A>T (p.Gln1906Leu) c.5873A>T (p.Gln1958Leu) c.6080A>T (p.Gln2027Leu) c.5381A>T (p.Gln1794Leu) c.6128A>T (p.Gln2043Leu) | dbSNP |
16 | g.3728913T>C | CA394554121 | CREBBP | c.6134A>G (p.Gln2045Arg) c.6020A>G (p.Gln2007Arg) c.6089A>G (p.Gln2030Arg) c.5717A>G (p.Gln1906Arg) c.5873A>G (p.Gln1958Arg) c.6080A>G (p.Gln2027Arg) c.5381A>G (p.Gln1794Arg) c.6128A>G (p.Gln2043Arg) | |
16 | g.3728913T>G | CA394554122 | CREBBP | c.6134A>C (p.Gln2045Pro) c.6020A>C (p.Gln2007Pro) c.6089A>C (p.Gln2030Pro) c.5717A>C (p.Gln1906Pro) c.5873A>C (p.Gln1958Pro) c.6080A>C (p.Gln2027Pro) c.5381A>C (p.Gln1794Pro) c.6128A>C (p.Gln2043Pro) | |
16 | g.3728914G>A | CA394554128 | CREBBP | c.6133C>T (p.Gln2045Ter) c.6019C>T (p.Gln2007Ter) c.6088C>T (p.Gln2030Ter) c.5716C>T (p.Gln1906Ter) c.5872C>T (p.Gln1958Ter) c.6079C>T (p.Gln2027Ter) c.5380C>T (p.Gln1794Ter) c.6127C>T (p.Gln2043Ter) | ClinVar dbSNP |
16 | g.3728914G>C | CA394554126 | CREBBP | c.6133C>G (p.Gln2045Glu) c.6019C>G (p.Gln2007Glu) c.6088C>G (p.Gln2030Glu) c.5716C>G (p.Gln1906Glu) c.5872C>G (p.Gln1958Glu) c.6079C>G (p.Gln2027Glu) c.5380C>G (p.Gln1794Glu) c.6127C>G (p.Gln2043Glu) | dbSNP |
16 | g.3728914G>T | CA394554124 | CREBBP | c.6133C>A (p.Gln2045Lys) c.6019C>A (p.Gln2007Lys) c.6088C>A (p.Gln2030Lys) c.5716C>A (p.Gln1906Lys) c.5872C>A (p.Gln1958Lys) c.6079C>A (p.Gln2027Lys) c.5380C>A (p.Gln1794Lys) c.6127C>A (p.Gln2043Lys) | dbSNP |
16 | g.3728916del | CA2840860805 | CREBBP | c.6133del (p.Gln2045ArgfsTer30) c.6019del (p.Gln2007ArgfsTer30) c.6088del (p.Gln2030ArgfsTer30) c.5716del (p.Gln1906ArgfsTer30) c.5872del (p.Gln1958ArgfsTer30) c.6079del (p.Gln2027ArgfsTer30) c.5380del (p.Gln1794ArgfsTer30) c.6127del (p.Gln2043ArgfsTer30) | |
16 | g.3728915G>A | CA493393824 | CREBBP | c.6132C>T (p.Ala2044=) c.6018C>T (p.Ala2006=) c.6087C>T (p.Ala2029=) c.5715C>T (p.Ala1905=) c.5871C>T (p.Ala1957=) c.6078C>T (p.Ala2026=) c.5379C>T (p.Ala1793=) c.6126C>T (p.Ala2042=) | dbSNP |
16 | g.3728915G>C | CA493393825 | CREBBP | c.6132C>G (p.Ala2044=) c.6018C>G (p.Ala2006=) c.6087C>G (p.Ala2029=) c.5715C>G (p.Ala1905=) c.5871C>G (p.Ala1957=) c.6078C>G (p.Ala2026=) c.5379C>G (p.Ala1793=) c.6126C>G (p.Ala2042=) | dbSNP |
16 | g.3728915G>T | CA493393826 | CREBBP | c.6132C>A (p.Ala2044=) c.6018C>A (p.Ala2006=) c.6087C>A (p.Ala2029=) c.5715C>A (p.Ala1905=) c.5871C>A (p.Ala1957=) c.6078C>A (p.Ala2026=) c.5379C>A (p.Ala1793=) c.6126C>A (p.Ala2042=) | dbSNP gnomAD v4 COSMIC |
16 | g.3728916G>A | CA7869178 | CREBBP | c.6131C>T (p.Ala2044Val) c.6017C>T (p.Ala2006Val) c.6086C>T (p.Ala2029Val) c.5714C>T (p.Ala1905Val) c.5870C>T (p.Ala1957Val) c.6077C>T (p.Ala2026Val) c.5378C>T (p.Ala1793Val) c.6125C>T (p.Ala2042Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3728916G>C | CA394554131 | CREBBP | c.6131C>G (p.Ala2044Gly) c.6017C>G (p.Ala2006Gly) c.6086C>G (p.Ala2029Gly) c.5714C>G (p.Ala1905Gly) c.5870C>G (p.Ala1957Gly) c.6077C>G (p.Ala2026Gly) c.5378C>G (p.Ala1793Gly) c.6125C>G (p.Ala2042Gly) | dbSNP |
16 | g.3728916G= | CA2202916113 | CREBBP | c.6131C= (p.Ala2044=) c.6017C= (p.Ala2006=) c.6086C= (p.Ala2029=) c.5714C= (p.Ala1905=) c.5870C= (p.Ala1957=) c.6077C= (p.Ala2026=) c.5378C= (p.Ala1793=) c.6125C= (p.Ala2042=) | |
16 | g.3728916G>T | CA394554133 | CREBBP | c.6131C>A (p.Ala2044Asp) c.6017C>A (p.Ala2006Asp) c.6086C>A (p.Ala2029Asp) c.5714C>A (p.Ala1905Asp) c.5870C>A (p.Ala1957Asp) c.6077C>A (p.Ala2026Asp) c.5378C>A (p.Ala1793Asp) c.6125C>A (p.Ala2042Asp) | dbSNP gnomAD v4 |
16 | g.3728917C>A | CA394554136 | CREBBP | c.6130G>T (p.Ala2044Ser) c.6016G>T (p.Ala2006Ser) c.6085G>T (p.Ala2029Ser) c.5713G>T (p.Ala1905Ser) c.5869G>T (p.Ala1957Ser) c.6076G>T (p.Ala2026Ser) c.5377G>T (p.Ala1793Ser) c.6124G>T (p.Ala2042Ser) | dbSNP gnomAD v4 COSMIC |
16 | g.3728917C= | CA2202916114 | CREBBP | c.6130G= (p.Ala2044=) c.6016G= (p.Ala2006=) c.6085G= (p.Ala2029=) c.5713G= (p.Ala1905=) c.5869G= (p.Ala1957=) c.6076G= (p.Ala2026=) c.5377G= (p.Ala1793=) c.6124G= (p.Ala2042=) | |
16 | g.3728917C>G | CA394554137 | CREBBP | c.6130G>C (p.Ala2044Pro) c.6016G>C (p.Ala2006Pro) c.6085G>C (p.Ala2029Pro) c.5713G>C (p.Ala1905Pro) c.5869G>C (p.Ala1957Pro) c.6076G>C (p.Ala2026Pro) c.5377G>C (p.Ala1793Pro) c.6124G>C (p.Ala2042Pro) | dbSNP |
16 | g.3728917C>T | CA394554139 | CREBBP | c.6130G>A (p.Ala2044Thr) c.6016G>A (p.Ala2006Thr) c.6085G>A (p.Ala2029Thr) c.5713G>A (p.Ala1905Thr) c.5869G>A (p.Ala1957Thr) c.6076G>A (p.Ala2026Thr) c.5377G>A (p.Ala1793Thr) c.6124G>A (p.Ala2042Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.3728918C>A | CA394554142 | CREBBP | c.6129G>T (p.Gln2043His) c.6015G>T (p.Gln2005His) c.6084G>T (p.Gln2028His) c.5712G>T (p.Gln1904His) c.5868G>T (p.Gln1956His) c.6075G>T (p.Gln2025His) c.5376G>T (p.Gln1792His) c.6123G>T (p.Gln2041His) | |
16 | g.3728918C>G | CA394554143 | CREBBP | c.6129G>C (p.Gln2043His) c.6015G>C (p.Gln2005His) c.6084G>C (p.Gln2028His) c.5712G>C (p.Gln1904His) c.5868G>C (p.Gln1956His) c.6075G>C (p.Gln2025His) c.5376G>C (p.Gln1792His) c.6123G>C (p.Gln2041His) | dbSNP |
16 | g.3728918C>T | CA493393827 | CREBBP | c.6129G>A (p.Gln2043=) c.6015G>A (p.Gln2005=) c.6084G>A (p.Gln2028=) c.5712G>A (p.Gln1904=) c.5868G>A (p.Gln1956=) c.6075G>A (p.Gln2025=) c.5376G>A (p.Gln1792=) c.6123G>A (p.Gln2041=) | gnomAD v4 |
16 | g.3728919T>A | CA394554144 | CREBBP | c.6128A>T (p.Gln2043Leu) c.6014A>T (p.Gln2005Leu) c.6083A>T (p.Gln2028Leu) c.5711A>T (p.Gln1904Leu) c.5867A>T (p.Gln1956Leu) c.6074A>T (p.Gln2025Leu) c.5375A>T (p.Gln1792Leu) c.6122A>T (p.Gln2041Leu) | dbSNP |
16 | g.3728919T>C | CA394554146 | CREBBP | c.6128A>G (p.Gln2043Arg) c.6014A>G (p.Gln2005Arg) c.6083A>G (p.Gln2028Arg) c.5711A>G (p.Gln1904Arg) c.5867A>G (p.Gln1956Arg) c.6074A>G (p.Gln2025Arg) c.5375A>G (p.Gln1792Arg) c.6122A>G (p.Gln2041Arg) | dbSNP gnomAD v4 |
16 | g.3728919T>G | CA394554148 | CREBBP | c.6128A>C (p.Gln2043Pro) c.6014A>C (p.Gln2005Pro) c.6083A>C (p.Gln2028Pro) c.5711A>C (p.Gln1904Pro) c.5867A>C (p.Gln1956Pro) c.6074A>C (p.Gln2025Pro) c.5375A>C (p.Gln1792Pro) c.6122A>C (p.Gln2041Pro) | dbSNP |
16 | g.3728920G>A | CA394554150 | CREBBP | c.6127C>T (p.Gln2043Ter) c.6013C>T (p.Gln2005Ter) c.6082C>T (p.Gln2028Ter) c.5710C>T (p.Gln1904Ter) c.5866C>T (p.Gln1956Ter) c.6073C>T (p.Gln2025Ter) c.5374C>T (p.Gln1792Ter) c.6121C>T (p.Gln2041Ter) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.3728920G>C | CA394554152 | CREBBP | c.6127C>G (p.Gln2043Glu) c.6013C>G (p.Gln2005Glu) c.6082C>G (p.Gln2028Glu) c.5710C>G (p.Gln1904Glu) c.5866C>G (p.Gln1956Glu) c.6073C>G (p.Gln2025Glu) c.5374C>G (p.Gln1792Glu) c.6121C>G (p.Gln2041Glu) | dbSNP |
16 | g.3728920G= | CA2202916115 | CREBBP | c.6127C= (p.Gln2043=) c.6013C= (p.Gln2005=) c.6082C= (p.Gln2028=) c.5710C= (p.Gln1904=) c.5866C= (p.Gln1956=) c.6073C= (p.Gln2025=) c.5374C= (p.Gln1792=) c.6121C= (p.Gln2041=) | |
16 | g.3728920G>T | CA394554154 | CREBBP | c.6127C>A (p.Gln2043Lys) c.6013C>A (p.Gln2005Lys) c.6082C>A (p.Gln2028Lys) c.5710C>A (p.Gln1904Lys) c.5866C>A (p.Gln1956Lys) c.6073C>A (p.Gln2025Lys) c.5374C>A (p.Gln1792Lys) c.6121C>A (p.Gln2041Lys) | gnomAD v4 |
16 | g.3728921C>A | CA276971775 | CREBBP | c.6126G>T (p.Met2042Ile) c.6012G>T (p.Met2004Ile) c.6081G>T (p.Met2027Ile) c.5709G>T (p.Met1903Ile) c.5865G>T (p.Met1955Ile) c.6072G>T (p.Met2024Ile) c.5373G>T (p.Met1791Ile) c.6120G>T (p.Met2040Ile) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.3728921C= | CA2202916116 | CREBBP | c.6126G= (p.Met2042=) c.6012G= (p.Met2004=) c.6081G= (p.Met2027=) c.5709G= (p.Met1903=) c.5865G= (p.Met1955=) c.6072G= (p.Met2024=) c.5373G= (p.Met1791=) c.6120G= (p.Met2040=) | |
16 | g.3728921C>G | CA394554159 | CREBBP | c.6126G>C (p.Met2042Ile) c.6012G>C (p.Met2004Ile) c.6081G>C (p.Met2027Ile) c.5709G>C (p.Met1903Ile) c.5865G>C (p.Met1955Ile) c.6072G>C (p.Met2024Ile) c.5373G>C (p.Met1791Ile) c.6120G>C (p.Met2040Ile) | dbSNP |
16 | g.3728921C>T | CA394554157 | CREBBP | c.6126G>A (p.Met2042Ile) c.6012G>A (p.Met2004Ile) c.6081G>A (p.Met2027Ile) c.5709G>A (p.Met1903Ile) c.5865G>A (p.Met1955Ile) c.6072G>A (p.Met2024Ile) c.5373G>A (p.Met1791Ile) c.6120G>A (p.Met2040Ile) | dbSNP gnomAD v4 |
16 | g.3728922A>C | CA394554163 | CREBBP | c.6125T>G (p.Met2042Arg) c.6011T>G (p.Met2004Arg) c.6080T>G (p.Met2027Arg) c.5708T>G (p.Met1903Arg) c.5864T>G (p.Met1955Arg) c.6071T>G (p.Met2024Arg) c.5372T>G (p.Met1791Arg) c.6119T>G (p.Met2040Arg) | |
16 | g.3728922A>G | CA394554166 | CREBBP | c.6125T>C (p.Met2042Thr) c.6011T>C (p.Met2004Thr) c.6080T>C (p.Met2027Thr) c.5708T>C (p.Met1903Thr) c.5864T>C (p.Met1955Thr) c.6071T>C (p.Met2024Thr) c.5372T>C (p.Met1791Thr) c.6119T>C (p.Met2040Thr) | gnomAD v4 |
16 | g.3728922A>T | CA394554164 | CREBBP | c.6125T>A (p.Met2042Lys) c.6011T>A (p.Met2004Lys) c.6080T>A (p.Met2027Lys) c.5708T>A (p.Met1903Lys) c.5864T>A (p.Met1955Lys) c.6071T>A (p.Met2024Lys) c.5372T>A (p.Met1791Lys) c.6119T>A (p.Met2040Lys) | |
16 | g.3728924_3728927del | CA2695222741 | CREBBP | c.6122_6125del (p.Ser2041CysfsTer?) c.6008_6011del (p.Ser2003CysfsTer?) c.6077_6080del (p.Ser2026CysfsTer?) c.5705_5708del (p.Ser1902CysfsTer?) c.5861_5864del (p.Ser1954CysfsTer?) c.6068_6071del (p.Ser2023CysfsTer?) c.5369_5372del (p.Ser1790CysfsTer?) c.6116_6119del (p.Ser2039CysfsTer?) | |
16 | g.3728923T>A | CA394554169 | CREBBP | c.6124A>T (p.Met2042Leu) c.6010A>T (p.Met2004Leu) c.6079A>T (p.Met2027Leu) c.5707A>T (p.Met1903Leu) c.5863A>T (p.Met1955Leu) c.6070A>T (p.Met2024Leu) c.5371A>T (p.Met1791Leu) c.6118A>T (p.Met2040Leu) | ClinVar |
16 | g.3728923T>C | CA394554172 | CREBBP | c.6124A>G (p.Met2042Val) c.6010A>G (p.Met2004Val) c.6079A>G (p.Met2027Val) c.5707A>G (p.Met1903Val) c.5863A>G (p.Met1955Val) c.6070A>G (p.Met2024Val) c.5371A>G (p.Met1791Val) c.6118A>G (p.Met2040Val) | |
16 | g.3728923T>G | CA394554170 | CREBBP | c.6124A>C (p.Met2042Leu) c.6010A>C (p.Met2004Leu) c.6079A>C (p.Met2027Leu) c.5707A>C (p.Met1903Leu) c.5863A>C (p.Met1955Leu) c.6070A>C (p.Met2024Leu) c.5371A>C (p.Met1791Leu) c.6118A>C (p.Met2040Leu) | |
16 | g.3728924G>A | CA7869179 | CREBBP | c.6123C>T (p.Ser2041=) c.6009C>T (p.Ser2003=) c.6078C>T (p.Ser2026=) c.5706C>T (p.Ser1902=) c.5862C>T (p.Ser1954=) c.6069C>T (p.Ser2023=) c.5370C>T (p.Ser1790=) c.6117C>T (p.Ser2039=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.3728924G>C | CA493393828 | CREBBP | c.6123C>G (p.Ser2041=) c.6009C>G (p.Ser2003=) c.6078C>G (p.Ser2026=) c.5706C>G (p.Ser1902=) c.5862C>G (p.Ser1954=) c.6069C>G (p.Ser2023=) c.5370C>G (p.Ser1790=) c.6117C>G (p.Ser2039=) | |
16 | g.3728924G= | CA2202916117 | CREBBP | c.6123C= (p.Ser2041=) c.6009C= (p.Ser2003=) c.6078C= (p.Ser2026=) c.5706C= (p.Ser1902=) c.5862C= (p.Ser1954=) c.6069C= (p.Ser2023=) c.5370C= (p.Ser1790=) c.6117C= (p.Ser2039=) | |
16 | g.3728924G>T | CA493393829 | CREBBP | c.6123C>A (p.Ser2041=) c.6009C>A (p.Ser2003=) c.6078C>A (p.Ser2026=) c.5706C>A (p.Ser1902=) c.5862C>A (p.Ser1954=) c.6069C>A (p.Ser2023=) c.5370C>A (p.Ser1790=) c.6117C>A (p.Ser2039=) | dbSNP |
16 | g.3728925del | CA2740093245 | CREBBP | c.6123del (p.Met2042CysfsTer?) c.6009del (p.Met2004CysfsTer?) c.6078del (p.Met2027CysfsTer?) c.5706del (p.Met1903CysfsTer?) c.5862del (p.Met1955CysfsTer?) c.6069del (p.Met2024CysfsTer?) c.5370del (p.Met1791CysfsTer?) c.6117del (p.Met2040CysfsTer?) | ClinVar |
16 | g.3728925G>A | CA394554175 | CREBBP | c.6122C>T (p.Ser2041Phe) c.6008C>T (p.Ser2003Phe) c.6077C>T (p.Ser2026Phe) c.5705C>T (p.Ser1902Phe) c.5861C>T (p.Ser1954Phe) c.6068C>T (p.Ser2023Phe) c.5369C>T (p.Ser1790Phe) c.6116C>T (p.Ser2039Phe) | dbSNP gnomAD v4 |
16 | g.3728925G>C | CA394554176 | CREBBP | c.6122C>G (p.Ser2041Cys) c.6008C>G (p.Ser2003Cys) c.6077C>G (p.Ser2026Cys) c.5705C>G (p.Ser1902Cys) c.5861C>G (p.Ser1954Cys) c.6068C>G (p.Ser2023Cys) c.5369C>G (p.Ser1790Cys) c.6116C>G (p.Ser2039Cys) | dbSNP |
16 | g.3728925G>T | CA394554177 | CREBBP | c.6122C>A (p.Ser2041Tyr) c.6008C>A (p.Ser2003Tyr) c.6077C>A (p.Ser2026Tyr) c.5705C>A (p.Ser1902Tyr) c.5861C>A (p.Ser1954Tyr) c.6068C>A (p.Ser2023Tyr) c.5369C>A (p.Ser1790Tyr) c.6116C>A (p.Ser2039Tyr) | dbSNP |
16 | g.3728926A= | CA2202916118 | CREBBP | c.6121T= (p.Ser2041=) c.6007T= (p.Ser2003=) c.6076T= (p.Ser2026=) c.5704T= (p.Ser1902=) c.5860T= (p.Ser1954=) c.6067T= (p.Ser2023=) c.5368T= (p.Ser1790=) c.6115T= (p.Ser2039=) | |
16 | g.3728926A>C | CA7869180 | CREBBP | c.6121T>G (p.Ser2041Ala) c.6007T>G (p.Ser2003Ala) c.6076T>G (p.Ser2026Ala) c.5704T>G (p.Ser1902Ala) c.5860T>G (p.Ser1954Ala) c.6067T>G (p.Ser2023Ala) c.5368T>G (p.Ser1790Ala) c.6115T>G (p.Ser2039Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.3728926A>G | CA394554178 | CREBBP | c.6121T>C (p.Ser2041Pro) c.6007T>C (p.Ser2003Pro) c.6076T>C (p.Ser2026Pro) c.5704T>C (p.Ser1902Pro) c.5860T>C (p.Ser1954Pro) c.6067T>C (p.Ser2023Pro) c.5368T>C (p.Ser1790Pro) c.6115T>C (p.Ser2039Pro) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3728926A>T | CA394554179 | CREBBP | c.6121T>A (p.Ser2041Thr) c.6007T>A (p.Ser2003Thr) c.6076T>A (p.Ser2026Thr) c.5704T>A (p.Ser1902Thr) c.5860T>A (p.Ser1954Thr) c.6067T>A (p.Ser2023Thr) c.5368T>A (p.Ser1790Thr) c.6115T>A (p.Ser2039Thr) | |
16 | g.3728927T>A | CA493393830 | CREBBP | c.6120A>T (p.Ile2040=) c.6006A>T (p.Ile2002=) c.6075A>T (p.Ile2025=) c.5703A>T (p.Ile1901=) c.5859A>T (p.Ile1953=) c.6066A>T (p.Ile2022=) c.5367A>T (p.Ile1789=) c.6114A>T (p.Ile2038=) | dbSNP |
16 | g.3728927T>C | CA394554180 | CREBBP | c.6120A>G (p.Ile2040Met) c.6006A>G (p.Ile2002Met) c.6075A>G (p.Ile2025Met) c.5703A>G (p.Ile1901Met) c.5859A>G (p.Ile1953Met) c.6066A>G (p.Ile2022Met) c.5367A>G (p.Ile1789Met) c.6114A>G (p.Ile2038Met) | |
16 | g.3728927T>G | CA493393831 | CREBBP | c.6120A>C (p.Ile2040=) c.6006A>C (p.Ile2002=) c.6075A>C (p.Ile2025=) c.5703A>C (p.Ile1901=) c.5859A>C (p.Ile1953=) c.6066A>C (p.Ile2022=) c.5367A>C (p.Ile1789=) c.6114A>C (p.Ile2038=) | |
16 | g.3728927T= | CA2202916119 | CREBBP | c.6120A= (p.Ile2040=) c.6006A= (p.Ile2002=) c.6075A= (p.Ile2025=) c.5703A= (p.Ile1901=) c.5859A= (p.Ile1953=) c.6066A= (p.Ile2022=) c.5367A= (p.Ile1789=) c.6114A= (p.Ile2038=) | |
16 | g.3728928A= | CA2202916120 | CREBBP | c.6119T= (p.Ile2040=) c.6005T= (p.Ile2002=) c.6074T= (p.Ile2025=) c.5702T= (p.Ile1901=) c.5858T= (p.Ile1953=) c.6065T= (p.Ile2022=) c.5366T= (p.Ile1789=) c.6113T= (p.Ile2038=) | |
16 | g.3728928A>C | CA394554181 | CREBBP | c.6119T>G (p.Ile2040Arg) c.6005T>G (p.Ile2002Arg) c.6074T>G (p.Ile2025Arg) c.5702T>G (p.Ile1901Arg) c.5858T>G (p.Ile1953Arg) c.6065T>G (p.Ile2022Arg) c.5366T>G (p.Ile1789Arg) c.6113T>G (p.Ile2038Arg) | dbSNP |
16 | g.3728928A>G | CA394554182 | CREBBP | c.6119T>C (p.Ile2040Thr) c.6005T>C (p.Ile2002Thr) c.6074T>C (p.Ile2025Thr) c.5702T>C (p.Ile1901Thr) c.5858T>C (p.Ile1953Thr) c.6065T>C (p.Ile2022Thr) c.5366T>C (p.Ile1789Thr) c.6113T>C (p.Ile2038Thr) | ClinVar dbSNP |
16 | g.3728928A>T | CA7869181 | CREBBP | c.6119T>A (p.Ile2040Lys) c.6005T>A (p.Ile2002Lys) c.6074T>A (p.Ile2025Lys) c.5702T>A (p.Ile1901Lys) c.5858T>A (p.Ile1953Lys) c.6065T>A (p.Ile2022Lys) c.5366T>A (p.Ile1789Lys) c.6113T>A (p.Ile2038Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.3728929T>A | CA394554185 | CREBBP | c.6118A>T (p.Ile2040Leu) c.6004A>T (p.Ile2002Leu) c.6073A>T (p.Ile2025Leu) c.5701A>T (p.Ile1901Leu) c.5857A>T (p.Ile1953Leu) c.6064A>T (p.Ile2022Leu) c.5365A>T (p.Ile1789Leu) c.6112A>T (p.Ile2038Leu) | |
16 | g.3728929T>C | CA394554184 | CREBBP | c.6118A>G (p.Ile2040Val) c.6004A>G (p.Ile2002Val) c.6073A>G (p.Ile2025Val) c.5701A>G (p.Ile1901Val) c.5857A>G (p.Ile1953Val) c.6064A>G (p.Ile2022Val) c.5365A>G (p.Ile1789Val) c.6112A>G (p.Ile2038Val) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.3728929T>G | CA394554183 | CREBBP | c.6118A>C (p.Ile2040Leu) c.6004A>C (p.Ile2002Leu) c.6073A>C (p.Ile2025Leu) c.5701A>C (p.Ile1901Leu) c.5857A>C (p.Ile1953Leu) c.6064A>C (p.Ile2022Leu) c.5365A>C (p.Ile1789Leu) c.6112A>C (p.Ile2038Leu) | gnomAD v4 |
16 | g.3728929T= | CA2202916121 | CREBBP | c.6118A= (p.Ile2040=) c.6004A= (p.Ile2002=) c.6073A= (p.Ile2025=) c.5701A= (p.Ile1901=) c.5857A= (p.Ile1953=) c.6064A= (p.Ile2022=) c.5365A= (p.Ile1789=) c.6112A= (p.Ile2038=) | |
16 | g.3728930C>A | CA493393833 | CREBBP | c.6117G>T (p.Val2039=) c.6003G>T (p.Val2001=) c.6072G>T (p.Val2024=) c.5700G>T (p.Val1900=) c.5856G>T (p.Val1952=) c.6063G>T (p.Val2021=) c.5364G>T (p.Val1788=) c.6111G>T (p.Val2037=) | dbSNP |
16 | g.3728930C>G | CA493393834 | CREBBP | c.6117G>C (p.Val2039=) c.6003G>C (p.Val2001=) c.6072G>C (p.Val2024=) c.5700G>C (p.Val1900=) c.5856G>C (p.Val1952=) c.6063G>C (p.Val2021=) c.5364G>C (p.Val1788=) c.6111G>C (p.Val2037=) | dbSNP |
16 | g.3728930C>T | CA493393832 | CREBBP | c.6117G>A (p.Val2039=) c.6003G>A (p.Val2001=) c.6072G>A (p.Val2024=) c.5700G>A (p.Val1900=) c.5856G>A (p.Val1952=) c.6063G>A (p.Val2021=) c.5364G>A (p.Val1788=) c.6111G>A (p.Val2037=) | dbSNP |
16 | g.3728930_3728940delinsCACAGGCCTGG | CA2202916122 | CREBBP | c.6107_6117delinsCCAGGCCTGTG (p.Pro2036=) c.5993_6003delinsCCAGGCCTGTG (p.Pro1998=) c.6062_6072delinsCCAGGCCTGTG (p.Pro2021=) c.5690_5700delinsCCAGGCCTGTG (p.Pro1897=) c.5846_5856delinsCCAGGCCTGTG (p.Pro1949=) c.6053_6063delinsCCAGGCCTGTG (p.Pro2018=) c.5354_5364delinsCCAGGCCTGTG (p.Pro1785=) c.6101_6111delinsCCAGGCCTGTG (p.Pro2034=) | |
16 | g.3728931A>C | CA394554186 | CREBBP | c.6116T>G (p.Val2039Gly) c.6002T>G (p.Val2001Gly) c.6071T>G (p.Val2024Gly) c.5699T>G (p.Val1900Gly) c.5855T>G (p.Val1952Gly) c.6062T>G (p.Val2021Gly) c.5363T>G (p.Val1788Gly) c.6110T>G (p.Val2037Gly) | dbSNP gnomAD v4 |
16 | g.3728931A>G | CA394554187 | CREBBP | c.6116T>C (p.Val2039Ala) c.6002T>C (p.Val2001Ala) c.6071T>C (p.Val2024Ala) c.5699T>C (p.Val1900Ala) c.5855T>C (p.Val1952Ala) c.6062T>C (p.Val2021Ala) c.5363T>C (p.Val1788Ala) c.6110T>C (p.Val2037Ala) | dbSNP gnomAD v4 |
16 | g.3728931A>T | CA394554188 | CREBBP | c.6116T>A (p.Val2039Glu) c.6002T>A (p.Val2001Glu) c.6071T>A (p.Val2024Glu) c.5699T>A (p.Val1900Glu) c.5855T>A (p.Val1952Glu) c.6062T>A (p.Val2021Glu) c.5363T>A (p.Val1788Glu) c.6110T>A (p.Val2037Glu) | dbSNP |
16 | g.3728931_3728940del | CA277328 | CREBBP | c.6107_6116del (p.Pro2036ArgfsTer?) c.5993_6002del (p.Pro1998ArgfsTer?) c.6062_6071del (p.Pro2021ArgfsTer?) c.5690_5699del (p.Pro1897ArgfsTer?) c.5846_5855del (p.Pro1949ArgfsTer?) c.6053_6062del (p.Pro2018ArgfsTer?) c.5354_5363del (p.Pro1785ArgfsTer?) c.6101_6110del (p.Pro2034ArgfsTer?) | ClinVar dbSNP |
16 | g.3728932C>A | CA394554189 | CREBBP | c.6115G>T (p.Val2039Leu) c.6001G>T (p.Val2001Leu) c.6070G>T (p.Val2024Leu) c.5698G>T (p.Val1900Leu) c.5854G>T (p.Val1952Leu) c.6061G>T (p.Val2021Leu) c.5362G>T (p.Val1788Leu) c.6109G>T (p.Val2037Leu) | dbSNP gnomAD v4 |
16 | g.3728932C= | CA2202916123 | CREBBP | c.6115G= (p.Val2039=) c.6001G= (p.Val2001=) c.6070G= (p.Val2024=) c.5698G= (p.Val1900=) c.5854G= (p.Val1952=) c.6061G= (p.Val2021=) c.5362G= (p.Val1788=) c.6109G= (p.Val2037=) | |
16 | g.3728932C>G | CA394554190 | CREBBP | c.6115G>C (p.Val2039Leu) c.6001G>C (p.Val2001Leu) c.6070G>C (p.Val2024Leu) c.5698G>C (p.Val1900Leu) c.5854G>C (p.Val1952Leu) c.6061G>C (p.Val2021Leu) c.5362G>C (p.Val1788Leu) c.6109G>C (p.Val2037Leu) | dbSNP |
16 | g.3728932C>T | CA394554191 | CREBBP | c.6115G>A (p.Val2039Met) c.6001G>A (p.Val2001Met) c.6070G>A (p.Val2024Met) c.5698G>A (p.Val1900Met) c.5854G>A (p.Val1952Met) c.6061G>A (p.Val2021Met) c.5362G>A (p.Val1788Met) c.6109G>A (p.Val2037Met) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.3728933A>C | CA493393837 | CREBBP | c.6114T>G (p.Pro2038=) c.6000T>G (p.Pro2000=) c.6069T>G (p.Pro2023=) c.5697T>G (p.Pro1899=) c.5853T>G (p.Pro1951=) c.6060T>G (p.Pro2020=) c.5361T>G (p.Pro1787=) c.6108T>G (p.Pro2036=) | dbSNP |
16 | g.3728933A>G | CA493393836 | CREBBP | c.6114T>C (p.Pro2038=) c.6000T>C (p.Pro2000=) c.6069T>C (p.Pro2023=) c.5697T>C (p.Pro1899=) c.5853T>C (p.Pro1951=) c.6060T>C (p.Pro2020=) c.5361T>C (p.Pro1787=) c.6108T>C (p.Pro2036=) | dbSNP gnomAD v4 |
16 | g.3728933A>T | CA493393835 | CREBBP | c.6114T>A (p.Pro2038=) c.6000T>A (p.Pro2000=) c.6069T>A (p.Pro2023=) c.5697T>A (p.Pro1899=) c.5853T>A (p.Pro1951=) c.6060T>A (p.Pro2020=) c.5361T>A (p.Pro1787=) c.6108T>A (p.Pro2036=) | dbSNP |
16 | g.3728934G>A | CA394554192 | CREBBP | c.6113C>T (p.Pro2038Leu) c.5999C>T (p.Pro2000Leu) c.6068C>T (p.Pro2023Leu) c.5696C>T (p.Pro1899Leu) c.5852C>T (p.Pro1951Leu) c.6059C>T (p.Pro2020Leu) c.5360C>T (p.Pro1787Leu) c.6107C>T (p.Pro2036Leu) | dbSNP |
16 | g.3728934G>C | CA394554193 | CREBBP | c.6113C>G (p.Pro2038Arg) c.5999C>G (p.Pro2000Arg) c.6068C>G (p.Pro2023Arg) c.5696C>G (p.Pro1899Arg) c.5852C>G (p.Pro1951Arg) c.6059C>G (p.Pro2020Arg) c.5360C>G (p.Pro1787Arg) c.6107C>G (p.Pro2036Arg) | |
16 | g.3728934G>T | CA394554194 | CREBBP | c.6113C>A (p.Pro2038His) c.5999C>A (p.Pro2000His) c.6068C>A (p.Pro2023His) c.5696C>A (p.Pro1899His) c.5852C>A (p.Pro1951His) c.6059C>A (p.Pro2020His) c.5360C>A (p.Pro1787His) c.6107C>A (p.Pro2036His) | dbSNP |
16 | g.3728935G>A | CA394554195 | CREBBP | c.6112C>T (p.Pro2038Ser) c.5998C>T (p.Pro2000Ser) c.6067C>T (p.Pro2023Ser) c.5695C>T (p.Pro1899Ser) c.5851C>T (p.Pro1951Ser) c.6058C>T (p.Pro2020Ser) c.5359C>T (p.Pro1787Ser) c.6106C>T (p.Pro2036Ser) | dbSNP |
16 | g.3728935G>C | CA394554196 | CREBBP | c.6112C>G (p.Pro2038Ala) c.5998C>G (p.Pro2000Ala) c.6067C>G (p.Pro2023Ala) c.5695C>G (p.Pro1899Ala) c.5851C>G (p.Pro1951Ala) c.6058C>G (p.Pro2020Ala) c.5359C>G (p.Pro1787Ala) c.6106C>G (p.Pro2036Ala) | dbSNP |
16 | g.3728935G>T | CA394554197 | CREBBP | c.6112C>A (p.Pro2038Thr) c.5998C>A (p.Pro2000Thr) c.6067C>A (p.Pro2023Thr) c.5695C>A (p.Pro1899Thr) c.5851C>A (p.Pro1951Thr) c.6058C>A (p.Pro2020Thr) c.5359C>A (p.Pro1787Thr) c.6106C>A (p.Pro2036Thr) | |
16 | g.3728936C>A | CA394554198 | CREBBP | c.6111G>T (p.Arg2037Ser) c.5997G>T (p.Arg1999Ser) c.6066G>T (p.Arg2022Ser) c.5694G>T (p.Arg1898Ser) c.5850G>T (p.Arg1950Ser) c.6057G>T (p.Arg2019Ser) c.5358G>T (p.Arg1786Ser) c.6105G>T (p.Arg2035Ser) | dbSNP gnomAD v4 |
16 | g.3728936C= | CA2202916124 | CREBBP | c.6111G= (p.Arg2037=) c.5997G= (p.Arg1999=) c.6066G= (p.Arg2022=) c.5694G= (p.Arg1898=) c.5850G= (p.Arg1950=) c.6057G= (p.Arg2019=) c.5358G= (p.Arg1786=) c.6105G= (p.Arg2035=) | |
16 | g.3728936C>G | CA394554199 | CREBBP | c.6111G>C (p.Arg2037Ser) c.5997G>C (p.Arg1999Ser) c.6066G>C (p.Arg2022Ser) c.5694G>C (p.Arg1898Ser) c.5850G>C (p.Arg1950Ser) c.6057G>C (p.Arg2019Ser) c.5358G>C (p.Arg1786Ser) c.6105G>C (p.Arg2035Ser) | ClinVar dbSNP gnomAD v4 |
16 | g.3728936C>T | CA493393838 | CREBBP | c.6111G>A (p.Arg2037=) c.5997G>A (p.Arg1999=) c.6066G>A (p.Arg2022=) c.5694G>A (p.Arg1898=) c.5850G>A (p.Arg1950=) c.6057G>A (p.Arg2019=) c.5358G>A (p.Arg1786=) c.6105G>A (p.Arg2035=) | dbSNP gnomAD v4 |
16 | g.3728937del | CA2825002417 | CREBBP | c.6111del (p.Arg2037SerfsTer3) c.5997del (p.Arg1999SerfsTer3) c.6066del (p.Arg2022SerfsTer3) c.5694del (p.Arg1898SerfsTer3) c.5850del (p.Arg1950SerfsTer3) c.6057del (p.Arg2019SerfsTer3) c.5358del (p.Arg1786SerfsTer3) c.6105del (p.Arg2035SerfsTer3) | ClinVar |
16 | g.3728937C>A | CA394554200 | CREBBP | c.6110G>T (p.Arg2037Met) c.5996G>T (p.Arg1999Met) c.6065G>T (p.Arg2022Met) c.5693G>T (p.Arg1898Met) c.5849G>T (p.Arg1950Met) c.6056G>T (p.Arg2019Met) c.5357G>T (p.Arg1786Met) c.6104G>T (p.Arg2035Met) | dbSNP gnomAD v4 |
16 | g.3728937C= | CA2202916125 | CREBBP | c.6110G= (p.Arg2037=) c.5996G= (p.Arg1999=) c.6065G= (p.Arg2022=) c.5693G= (p.Arg1898=) c.5849G= (p.Arg1950=) c.6056G= (p.Arg2019=) c.5357G= (p.Arg1786=) c.6104G= (p.Arg2035=) | |
16 | g.3728937C>G | CA394554201 | CREBBP | c.6110G>C (p.Arg2037Thr) c.5996G>C (p.Arg1999Thr) c.6065G>C (p.Arg2022Thr) c.5693G>C (p.Arg1898Thr) c.5849G>C (p.Arg1950Thr) c.6056G>C (p.Arg2019Thr) c.5357G>C (p.Arg1786Thr) c.6104G>C (p.Arg2035Thr) | dbSNP |
16 | g.3728937C>T | CA394554202 | CREBBP | c.6110G>A (p.Arg2037Lys) c.5996G>A (p.Arg1999Lys) c.6065G>A (p.Arg2022Lys) c.5693G>A (p.Arg1898Lys) c.5849G>A (p.Arg1950Lys) c.6056G>A (p.Arg2019Lys) c.5357G>A (p.Arg1786Lys) c.6104G>A (p.Arg2035Lys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.3728938T>A | CA394554203 | CREBBP | c.6109A>T (p.Arg2037Trp) c.5995A>T (p.Arg1999Trp) c.6064A>T (p.Arg2022Trp) c.5692A>T (p.Arg1898Trp) c.5848A>T (p.Arg1950Trp) c.6055A>T (p.Arg2019Trp) c.5356A>T (p.Arg1786Trp) c.6103A>T (p.Arg2035Trp) | |
16 | g.3728938T>C | CA394554204 | CREBBP | c.6109A>G (p.Arg2037Gly) c.5995A>G (p.Arg1999Gly) c.6064A>G (p.Arg2022Gly) c.5692A>G (p.Arg1898Gly) c.5848A>G (p.Arg1950Gly) c.6055A>G (p.Arg2019Gly) c.5356A>G (p.Arg1786Gly) c.6103A>G (p.Arg2035Gly) | ClinVar gnomAD v4 |
16 | g.3728938T>G | CA7869182 | CREBBP | c.6109A>C (p.Arg2037=) c.5995A>C (p.Arg1999=) c.6064A>C (p.Arg2022=) c.5692A>C (p.Arg1898=) c.5848A>C (p.Arg1950=) c.6055A>C (p.Arg2019=) c.5356A>C (p.Arg1786=) c.6103A>C (p.Arg2035=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.3728938T= | CA2202916126 | CREBBP | c.6109A= (p.Arg2037=) c.5995A= (p.Arg1999=) c.6064A= (p.Arg2022=) c.5692A= (p.Arg1898=) c.5848A= (p.Arg1950=) c.6055A= (p.Arg2019=) c.5356A= (p.Arg1786=) c.6103A= (p.Arg2035=) | |
16 | g.3728939G>A | CA493393839 | CREBBP | c.6108C>T (p.Pro2036=) c.5994C>T (p.Pro1998=) c.6063C>T (p.Pro2021=) c.5691C>T (p.Pro1897=) c.5847C>T (p.Pro1949=) c.6054C>T (p.Pro2018=) c.5355C>T (p.Pro1785=) c.6102C>T (p.Pro2034=) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.3728939G>C | CA493393840 | CREBBP | c.6108C>G (p.Pro2036=) c.5994C>G (p.Pro1998=) c.6063C>G (p.Pro2021=) c.5691C>G (p.Pro1897=) c.5847C>G (p.Pro1949=) c.6054C>G (p.Pro2018=) c.5355C>G (p.Pro1785=) c.6102C>G (p.Pro2034=) | |
16 | g.3728939G= | CA2202916127 | CREBBP | c.6108C= (p.Pro2036=) c.5994C= (p.Pro1998=) c.6063C= (p.Pro2021=) c.5691C= (p.Pro1897=) c.5847C= (p.Pro1949=) c.6054C= (p.Pro2018=) c.5355C= (p.Pro1785=) c.6102C= (p.Pro2034=) | |
16 | g.3728939G>T | CA493393841 | CREBBP | c.6108C>A (p.Pro2036=) c.5994C>A (p.Pro1998=) c.6063C>A (p.Pro2021=) c.5691C>A (p.Pro1897=) c.5847C>A (p.Pro1949=) c.6054C>A (p.Pro2018=) c.5355C>A (p.Pro1785=) c.6102C>A (p.Pro2034=) | |
16 | g.3728940G>A | CA394554207 | CREBBP | c.6107C>T (p.Pro2036Leu) c.5993C>T (p.Pro1998Leu) c.6062C>T (p.Pro2021Leu) c.5690C>T (p.Pro1897Leu) c.5846C>T (p.Pro1949Leu) c.6053C>T (p.Pro2018Leu) c.5354C>T (p.Pro1785Leu) c.6101C>T (p.Pro2034Leu) | dbSNP |
16 | g.3728940G>C | CA394554205 | CREBBP | c.6107C>G (p.Pro2036Arg) c.5993C>G (p.Pro1998Arg) c.6062C>G (p.Pro2021Arg) c.5690C>G (p.Pro1897Arg) c.5846C>G (p.Pro1949Arg) c.6053C>G (p.Pro2018Arg) c.5354C>G (p.Pro1785Arg) c.6101C>G (p.Pro2034Arg) | |
16 | g.3728940G>T | CA394554206 | CREBBP | c.6107C>A (p.Pro2036His) c.5993C>A (p.Pro1998His) c.6062C>A (p.Pro2021His) c.5690C>A (p.Pro1897His) c.5846C>A (p.Pro1949His) c.6053C>A (p.Pro2018His) c.5354C>A (p.Pro1785His) c.6101C>A (p.Pro2034His) | |
16 | g.3728941G>A | CA394554208 | CREBBP | c.6106C>T (p.Pro2036Ser) c.5992C>T (p.Pro1998Ser) c.6061C>T (p.Pro2021Ser) c.5689C>T (p.Pro1897Ser) c.5845C>T (p.Pro1949Ser) c.6052C>T (p.Pro2018Ser) c.5353C>T (p.Pro1785Ser) c.6100C>T (p.Pro2034Ser) | dbSNP gnomAD v4 |
16 | g.3728941G>C | CA394554209 | CREBBP | c.6106C>G (p.Pro2036Ala) c.5992C>G (p.Pro1998Ala) c.6061C>G (p.Pro2021Ala) c.5689C>G (p.Pro1897Ala) c.5845C>G (p.Pro1949Ala) c.6052C>G (p.Pro2018Ala) c.5353C>G (p.Pro1785Ala) c.6100C>G (p.Pro2034Ala) | dbSNP COSMIC |
16 | g.3728941G= | CA2202916128 | CREBBP | c.6106C= (p.Pro2036=) c.5992C= (p.Pro1998=) c.6061C= (p.Pro2021=) c.5689C= (p.Pro1897=) c.5845C= (p.Pro1949=) c.6052C= (p.Pro2018=) c.5353C= (p.Pro1785=) c.6100C= (p.Pro2034=) | |
16 | g.3728941G>T | CA394554210 | CREBBP | c.6106C>A (p.Pro2036Thr) c.5992C>A (p.Pro1998Thr) c.6061C>A (p.Pro2021Thr) c.5689C>A (p.Pro1897Thr) c.5845C>A (p.Pro1949Thr) c.6052C>A (p.Pro2018Thr) c.5353C>A (p.Pro1785Thr) c.6100C>A (p.Pro2034Thr) | |
16 | g.3728942del | CA2839593153 | CREBBP | c.6105del (p.Leu2035PhefsTer5) c.5991del (p.Leu1997PhefsTer5) c.6060del (p.Leu2020PhefsTer5) c.5688del (p.Leu1896PhefsTer5) c.5844del (p.Leu1948PhefsTer5) c.6051del (p.Leu2017PhefsTer5) c.5352del (p.Leu1784PhefsTer5) c.6099del (p.Leu2033PhefsTer5) | |
16 | g.3728942C>A | CA394554211 | CREBBP | c.6105G>T (p.Leu2035Phe) c.5991G>T (p.Leu1997Phe) c.6060G>T (p.Leu2020Phe) c.5688G>T (p.Leu1896Phe) c.5844G>T (p.Leu1948Phe) c.6051G>T (p.Leu2017Phe) c.5352G>T (p.Leu1784Phe) c.6099G>T (p.Leu2033Phe) | dbSNP gnomAD v4 |
16 | g.3728942C>G | CA394554212 | CREBBP | c.6105G>C (p.Leu2035Phe) c.5991G>C (p.Leu1997Phe) c.6060G>C (p.Leu2020Phe) c.5688G>C (p.Leu1896Phe) c.5844G>C (p.Leu1948Phe) c.6051G>C (p.Leu2017Phe) c.5352G>C (p.Leu1784Phe) c.6099G>C (p.Leu2033Phe) | dbSNP |
16 | g.3728942C>T | CA493393842 | CREBBP | c.6105G>A (p.Leu2035=) c.5991G>A (p.Leu1997=) c.6060G>A (p.Leu2020=) c.5688G>A (p.Leu1896=) c.5844G>A (p.Leu1948=) c.6051G>A (p.Leu2017=) c.5352G>A (p.Leu1784=) c.6099G>A (p.Leu2033=) | dbSNP gnomAD v4 |
16 | g.3728942_3728943delinsCA | CA2202916129 | CREBBP | c.6104_6105delinsTG (p.Leu2035=) c.5990_5991delinsTG (p.Leu1997=) c.6059_6060delinsTG (p.Leu2020=) c.5687_5688delinsTG (p.Leu1896=) c.5843_5844delinsTG (p.Leu1948=) c.6050_6051delinsTG (p.Leu2017=) c.5351_5352delinsTG (p.Leu1784=) c.6098_6099delinsTG (p.Leu2033=) | |
16 | g.3728943A>C | CA394554213 | CREBBP | c.6104T>G (p.Leu2035Trp) c.5990T>G (p.Leu1997Trp) c.6059T>G (p.Leu2020Trp) c.5687T>G (p.Leu1896Trp) c.5843T>G (p.Leu1948Trp) c.6050T>G (p.Leu2017Trp) c.5351T>G (p.Leu1784Trp) c.6098T>G (p.Leu2033Trp) | dbSNP |
16 | g.3728943A>G | CA394554215 | CREBBP | c.6104T>C (p.Leu2035Ser) c.5990T>C (p.Leu1997Ser) c.6059T>C (p.Leu2020Ser) c.5687T>C (p.Leu1896Ser) c.5843T>C (p.Leu1948Ser) c.6050T>C (p.Leu2017Ser) c.5351T>C (p.Leu1784Ser) c.6098T>C (p.Leu2033Ser) | dbSNP |
16 | g.3728943A>T | CA394554214 | CREBBP | c.6104T>A (p.Leu2035Ter) c.5990T>A (p.Leu1997Ter) c.6059T>A (p.Leu2020Ter) c.5687T>A (p.Leu1896Ter) c.5843T>A (p.Leu1948Ter) c.6050T>A (p.Leu2017Ter) c.5351T>A (p.Leu1784Ter) c.6098T>A (p.Leu2033Ter) | dbSNP |
16 | g.3728944del | CA1139664467 | CREBBP | c.6104del (p.Leu2035CysfsTer5) c.5990del (p.Leu1997CysfsTer5) c.6059del (p.Leu2020CysfsTer5) c.5687del (p.Leu1896CysfsTer5) c.5843del (p.Leu1948CysfsTer5) c.6050del (p.Leu2017CysfsTer5) c.5351del (p.Leu1784CysfsTer5) c.6098del (p.Leu2033CysfsTer5) | ClinVar dbSNP |
16 | g.3728944A>C | CA394554216 | CREBBP | c.6103T>G (p.Leu2035Val) c.5989T>G (p.Leu1997Val) c.6058T>G (p.Leu2020Val) c.5686T>G (p.Leu1896Val) c.5842T>G (p.Leu1948Val) c.6049T>G (p.Leu2017Val) c.5350T>G (p.Leu1784Val) c.6097T>G (p.Leu2033Val) | dbSNP |
16 | g.3728944A>G | CA493393843 | CREBBP | c.6103T>C (p.Leu2035=) c.5989T>C (p.Leu1997=) c.6058T>C (p.Leu2020=) c.5686T>C (p.Leu1896=) c.5842T>C (p.Leu1948=) c.6049T>C (p.Leu2017=) c.5350T>C (p.Leu1784=) c.6097T>C (p.Leu2033=) | dbSNP |
16 | g.3728944A>T | CA394554217 | CREBBP | c.6103T>A (p.Leu2035Met) c.5989T>A (p.Leu1997Met) c.6058T>A (p.Leu2020Met) c.5686T>A (p.Leu1896Met) c.5842T>A (p.Leu1948Met) c.6049T>A (p.Leu2017Met) c.5350T>A (p.Leu1784Met) c.6097T>A (p.Leu2033Met) | dbSNP |
16 | g.3728945G>A | CA493393844 | CREBBP | c.6102C>T (p.Gly2034=) c.5988C>T (p.Gly1996=) c.6057C>T (p.Gly2019=) c.5685C>T (p.Gly1895=) c.5841C>T (p.Gly1947=) c.6048C>T (p.Gly2016=) c.5349C>T (p.Gly1783=) c.6096C>T (p.Gly2032=) | ClinVar dbSNP |
16 | g.3728945G>C | CA493393845 | CREBBP | c.6102C>G (p.Gly2034=) c.5988C>G (p.Gly1996=) c.6057C>G (p.Gly2019=) c.5685C>G (p.Gly1895=) c.5841C>G (p.Gly1947=) c.6048C>G (p.Gly2016=) c.5349C>G (p.Gly1783=) c.6096C>G (p.Gly2032=) | gnomAD v4 |
16 | g.3728945G>T | CA493393846 | CREBBP | c.6102C>A (p.Gly2034=) c.5988C>A (p.Gly1996=) c.6057C>A (p.Gly2019=) c.5685C>A (p.Gly1895=) c.5841C>A (p.Gly1947=) c.6048C>A (p.Gly2016=) c.5349C>A (p.Gly1783=) c.6096C>A (p.Gly2032=) | gnomAD v4 |
16 | g.3728946C>A | CA394554218 | CREBBP | c.6101G>T (p.Gly2034Val) c.5987G>T (p.Gly1996Val) c.6056G>T (p.Gly2019Val) c.5684G>T (p.Gly1895Val) c.5840G>T (p.Gly1947Val) c.6047G>T (p.Gly2016Val) c.5348G>T (p.Gly1783Val) c.6095G>T (p.Gly2032Val) | dbSNP |
16 | g.3728946C>G | CA394554220 | CREBBP | c.6101G>C (p.Gly2034Ala) c.5987G>C (p.Gly1996Ala) c.6056G>C (p.Gly2019Ala) c.5684G>C (p.Gly1895Ala) c.5840G>C (p.Gly1947Ala) c.6047G>C (p.Gly2016Ala) c.5348G>C (p.Gly1783Ala) c.6095G>C (p.Gly2032Ala) | dbSNP gnomAD v4 |
16 | g.3728946C>T | CA394554221 | CREBBP | c.6101G>A (p.Gly2034Asp) c.5987G>A (p.Gly1996Asp) c.6056G>A (p.Gly2019Asp) c.5684G>A (p.Gly1895Asp) c.5840G>A (p.Gly1947Asp) c.6047G>A (p.Gly2016Asp) c.5348G>A (p.Gly1783Asp) c.6095G>A (p.Gly2032Asp) | dbSNP gnomAD v4 |
16 | g.3728947C>A | CA394554224 | CREBBP | c.6100G>T (p.Gly2034Cys) c.5986G>T (p.Gly1996Cys) c.6055G>T (p.Gly2019Cys) c.5683G>T (p.Gly1895Cys) c.5839G>T (p.Gly1947Cys) c.6046G>T (p.Gly2016Cys) c.5347G>T (p.Gly1783Cys) c.6094G>T (p.Gly2032Cys) | |
16 | g.3728947C>G | CA394554225 | CREBBP | c.6100G>C (p.Gly2034Arg) c.5986G>C (p.Gly1996Arg) c.6055G>C (p.Gly2019Arg) c.5683G>C (p.Gly1895Arg) c.5839G>C (p.Gly1947Arg) c.6046G>C (p.Gly2016Arg) c.5347G>C (p.Gly1783Arg) c.6094G>C (p.Gly2032Arg) | dbSNP |
16 | g.3728947C>T | CA394554227 | CREBBP | c.6100G>A (p.Gly2034Ser) c.5986G>A (p.Gly1996Ser) c.6055G>A (p.Gly2019Ser) c.5683G>A (p.Gly1895Ser) c.5839G>A (p.Gly1947Ser) c.6046G>A (p.Gly2016Ser) c.5347G>A (p.Gly1783Ser) c.6094G>A (p.Gly2032Ser) | dbSNP |
16 | g.3728948T>A | CA493393848 | CREBBP | c.6099A>T (p.Pro2033=) c.5985A>T (p.Pro1995=) c.6054A>T (p.Pro2018=) c.5682A>T (p.Pro1894=) c.5838A>T (p.Pro1946=) c.6045A>T (p.Pro2015=) c.5346A>T (p.Pro1782=) c.6093A>T (p.Pro2031=) | |
16 | g.3728948T>C | CA493393849 | CREBBP | c.6099A>G (p.Pro2033=) c.5985A>G (p.Pro1995=) c.6054A>G (p.Pro2018=) c.5682A>G (p.Pro1894=) c.5838A>G (p.Pro1946=) c.6045A>G (p.Pro2015=) c.5346A>G (p.Pro1782=) c.6093A>G (p.Pro2031=) | |
16 | g.3728948T>G | CA493393851 | CREBBP | c.6099A>C (p.Pro2033=) c.5985A>C (p.Pro1995=) c.6054A>C (p.Pro2018=) c.5682A>C (p.Pro1894=) c.5838A>C (p.Pro1946=) c.6045A>C (p.Pro2015=) c.5346A>C (p.Pro1782=) c.6093A>C (p.Pro2031=) | |
16 | g.3728949G>A | CA394554230 | CREBBP | c.6098C>T (p.Pro2033Leu) c.5984C>T (p.Pro1995Leu) c.6053C>T (p.Pro2018Leu) c.5681C>T (p.Pro1894Leu) c.5837C>T (p.Pro1946Leu) c.6044C>T (p.Pro2015Leu) c.5345C>T (p.Pro1782Leu) c.6092C>T (p.Pro2031Leu) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.3728949G>C | CA394554231 | CREBBP | c.6098C>G (p.Pro2033Arg) c.5984C>G (p.Pro1995Arg) c.6053C>G (p.Pro2018Arg) c.5681C>G (p.Pro1894Arg) c.5837C>G (p.Pro1946Arg) c.6044C>G (p.Pro2015Arg) c.5345C>G (p.Pro1782Arg) c.6092C>G (p.Pro2031Arg) | gnomAD v4 |
16 | g.3728949G= | CA2202916130 | CREBBP | c.6098C= (p.Pro2033=) c.5984C= (p.Pro1995=) c.6053C= (p.Pro2018=) c.5681C= (p.Pro1894=) c.5837C= (p.Pro1946=) c.6044C= (p.Pro2015=) c.5345C= (p.Pro1782=) c.6092C= (p.Pro2031=) | |
16 | g.3728949G>T | CA394554233 | CREBBP | c.6098C>A (p.Pro2033Gln) c.5984C>A (p.Pro1995Gln) c.6053C>A (p.Pro2018Gln) c.5681C>A (p.Pro1894Gln) c.5837C>A (p.Pro1946Gln) c.6044C>A (p.Pro2015Gln) c.5345C>A (p.Pro1782Gln) c.6092C>A (p.Pro2031Gln) | gnomAD v4 |
16 | g.3728950G>A | CA394554235 | CREBBP | c.6097C>T (p.Pro2033Ser) c.5983C>T (p.Pro1995Ser) c.6052C>T (p.Pro2018Ser) c.5680C>T (p.Pro1894Ser) c.5836C>T (p.Pro1946Ser) c.6043C>T (p.Pro2015Ser) c.5344C>T (p.Pro1782Ser) c.6091C>T (p.Pro2031Ser) | dbSNP |
16 | g.3728950G>C | CA394554238 | CREBBP | c.6097C>G (p.Pro2033Ala) c.5983C>G (p.Pro1995Ala) c.6052C>G (p.Pro2018Ala) c.5680C>G (p.Pro1894Ala) c.5836C>G (p.Pro1946Ala) c.6043C>G (p.Pro2015Ala) c.5344C>G (p.Pro1782Ala) c.6091C>G (p.Pro2031Ala) | dbSNP |
16 | g.3728950G>T | CA394554237 | CREBBP | c.6097C>A (p.Pro2033Thr) c.5983C>A (p.Pro1995Thr) c.6052C>A (p.Pro2018Thr) c.5680C>A (p.Pro1894Thr) c.5836C>A (p.Pro1946Thr) c.6043C>A (p.Pro2015Thr) c.5344C>A (p.Pro1782Thr) c.6091C>A (p.Pro2031Thr) | dbSNP |
16 | g.3728951C>A | CA394554240 | CREBBP | c.6096G>T (p.Met2032Ile) c.5982G>T (p.Met1994Ile) c.6051G>T (p.Met2017Ile) c.5679G>T (p.Met1893Ile) c.5835G>T (p.Met1945Ile) c.6042G>T (p.Met2014Ile) c.5343G>T (p.Met1781Ile) c.6090G>T (p.Met2030Ile) | dbSNP gnomAD v4 |
16 | g.3728951C>G | CA394554244 | CREBBP | c.6096G>C (p.Met2032Ile) c.5982G>C (p.Met1994Ile) c.6051G>C (p.Met2017Ile) c.5679G>C (p.Met1893Ile) c.5835G>C (p.Met1945Ile) c.6042G>C (p.Met2014Ile) c.5343G>C (p.Met1781Ile) c.6090G>C (p.Met2030Ile) | dbSNP |
16 | g.3728951C>T | CA394554242 | CREBBP | c.6096G>A (p.Met2032Ile) c.5982G>A (p.Met1994Ile) c.6051G>A (p.Met2017Ile) c.5679G>A (p.Met1893Ile) c.5835G>A (p.Met1945Ile) c.6042G>A (p.Met2014Ile) c.5343G>A (p.Met1781Ile) c.6090G>A (p.Met2030Ile) | dbSNP |
16 | g.3728952A>C | CA394554245 | CREBBP | c.6095T>G (p.Met2032Arg) c.5981T>G (p.Met1994Arg) c.6050T>G (p.Met2017Arg) c.5678T>G (p.Met1893Arg) c.5834T>G (p.Met1945Arg) c.6041T>G (p.Met2014Arg) c.5342T>G (p.Met1781Arg) c.6089T>G (p.Met2030Arg) | dbSNP |
16 | g.3728952A>G | CA394554247 | CREBBP | c.6095T>C (p.Met2032Thr) c.5981T>C (p.Met1994Thr) c.6050T>C (p.Met2017Thr) c.5678T>C (p.Met1893Thr) c.5834T>C (p.Met1945Thr) c.6041T>C (p.Met2014Thr) c.5342T>C (p.Met1781Thr) c.6089T>C (p.Met2030Thr) | dbSNP |
16 | g.3728952A>T | CA394554249 | CREBBP | c.6095T>A (p.Met2032Lys) c.5981T>A (p.Met1994Lys) c.6050T>A (p.Met2017Lys) c.5678T>A (p.Met1893Lys) c.5834T>A (p.Met1945Lys) c.6041T>A (p.Met2014Lys) c.5342T>A (p.Met1781Lys) c.6089T>A (p.Met2030Lys) | dbSNP |
16 | g.3728953T>A | CA394554251 | CREBBP | c.6094A>T (p.Met2032Leu) c.5980A>T (p.Met1994Leu) c.6049A>T (p.Met2017Leu) c.5677A>T (p.Met1893Leu) c.5833A>T (p.Met1945Leu) c.6040A>T (p.Met2014Leu) c.5341A>T (p.Met1781Leu) c.6088A>T (p.Met2030Leu) | |
16 | g.3728953T>C | CA394554253 | CREBBP | c.6094A>G (p.Met2032Val) c.5980A>G (p.Met1994Val) c.6049A>G (p.Met2017Val) c.5677A>G (p.Met1893Val) c.5833A>G (p.Met1945Val) c.6040A>G (p.Met2014Val) c.5341A>G (p.Met1781Val) c.6088A>G (p.Met2030Val) | |
16 | g.3728953T>G | CA394554255 | CREBBP | c.6094A>C (p.Met2032Leu) c.5980A>C (p.Met1994Leu) c.6049A>C (p.Met2017Leu) c.5677A>C (p.Met1893Leu) c.5833A>C (p.Met1945Leu) c.6040A>C (p.Met2014Leu) c.5341A>C (p.Met1781Leu) c.6088A>C (p.Met2030Leu) | |
16 | g.3728954G>A | CA493393859 | CREBBP | c.6093C>T (p.Pro2031=) c.5979C>T (p.Pro1993=) c.6048C>T (p.Pro2016=) c.5676C>T (p.Pro1892=) c.5832C>T (p.Pro1944=) c.6039C>T (p.Pro2013=) c.5340C>T (p.Pro1780=) c.6087C>T (p.Pro2029=) | dbSNP |
16 | g.3728954G>C | CA493393858 | CREBBP | c.6093C>G (p.Pro2031=) c.5979C>G (p.Pro1993=) c.6048C>G (p.Pro2016=) c.5676C>G (p.Pro1892=) c.5832C>G (p.Pro1944=) c.6039C>G (p.Pro2013=) c.5340C>G (p.Pro1780=) c.6087C>G (p.Pro2029=) | dbSNP gnomAD v4 |
16 | g.3728954G>T | CA493393856 | CREBBP | c.6093C>A (p.Pro2031=) c.5979C>A (p.Pro1993=) c.6048C>A (p.Pro2016=) c.5676C>A (p.Pro1892=) c.5832C>A (p.Pro1944=) c.6039C>A (p.Pro2013=) c.5340C>A (p.Pro1780=) c.6087C>A (p.Pro2029=) | dbSNP gnomAD v4 |
16 | g.3728956dup | CA2840860806 | CREBBP | c.6093dup (p.Met2032HisfsTer?) c.5979dup (p.Met1994HisfsTer?) c.6048dup (p.Met2017HisfsTer?) c.5676dup (p.Met1893HisfsTer?) c.5832dup (p.Met1945HisfsTer?) c.6039dup (p.Met2014HisfsTer?) c.5340dup (p.Met1781HisfsTer?) c.6087dup (p.Met2030HisfsTer?) | |
16 | g.3728955G>A | CA394554257 | CREBBP | c.6092C>T (p.Pro2031Leu) c.5978C>T (p.Pro1993Leu) c.6047C>T (p.Pro2016Leu) c.5675C>T (p.Pro1892Leu) c.5831C>T (p.Pro1944Leu) c.6038C>T (p.Pro2013Leu) c.5339C>T (p.Pro1780Leu) c.6086C>T (p.Pro2029Leu) | |
16 | g.3728955G>C | CA394554259 | CREBBP | c.6092C>G (p.Pro2031Arg) c.5978C>G (p.Pro1993Arg) c.6047C>G (p.Pro2016Arg) c.5675C>G (p.Pro1892Arg) c.5831C>G (p.Pro1944Arg) c.6038C>G (p.Pro2013Arg) c.5339C>G (p.Pro1780Arg) c.6086C>G (p.Pro2029Arg) | |
16 | g.3728955G= | CA2202916131 | CREBBP | c.6092C= (p.Pro2031=) c.5978C= (p.Pro1993=) c.6047C= (p.Pro2016=) c.5675C= (p.Pro1892=) c.5831C= (p.Pro1944=) c.6038C= (p.Pro2013=) c.5339C= (p.Pro1780=) c.6086C= (p.Pro2029=) | |
16 | g.3728955G>T | CA394554261 | CREBBP | c.6092C>A (p.Pro2031His) c.5978C>A (p.Pro1993His) c.6047C>A (p.Pro2016His) c.5675C>A (p.Pro1892His) c.5831C>A (p.Pro1944His) c.6038C>A (p.Pro2013His) c.5339C>A (p.Pro1780His) c.6086C>A (p.Pro2029His) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.3728956G>A | CA394554267 | CREBBP | c.6091C>T (p.Pro2031Ser) c.5977C>T (p.Pro1993Ser) c.6046C>T (p.Pro2016Ser) c.5674C>T (p.Pro1892Ser) c.5830C>T (p.Pro1944Ser) c.6037C>T (p.Pro2013Ser) c.5338C>T (p.Pro1780Ser) c.6085C>T (p.Pro2029Ser) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.3728956G>C | CA394554265 | CREBBP | c.6091C>G (p.Pro2031Ala) c.5977C>G (p.Pro1993Ala) c.6046C>G (p.Pro2016Ala) c.5674C>G (p.Pro1892Ala) c.5830C>G (p.Pro1944Ala) c.6037C>G (p.Pro2013Ala) c.5338C>G (p.Pro1780Ala) c.6085C>G (p.Pro2029Ala) | dbSNP |
16 | g.3728956G= | CA2202916132 | CREBBP | c.6091C= (p.Pro2031=) c.5977C= (p.Pro1993=) c.6046C= (p.Pro2016=) c.5674C= (p.Pro1892=) c.5830C= (p.Pro1944=) c.6037C= (p.Pro2013=) c.5338C= (p.Pro1780=) c.6085C= (p.Pro2029=) | |
16 | g.3728956G>T | CA394554263 | CREBBP | c.6091C>A (p.Pro2031Thr) c.5977C>A (p.Pro1993Thr) c.6046C>A (p.Pro2016Thr) c.5674C>A (p.Pro1892Thr) c.5830C>A (p.Pro1944Thr) c.6037C>A (p.Pro2013Thr) c.5338C>A (p.Pro1780Thr) c.6085C>A (p.Pro2029Thr) | dbSNP gnomAD v4 |