Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.3728968_3729007del | CA2631403143 | CREBBP | c.6047_6086del (p.Met2016SerfsTer11) c.5933_5972del (p.Met1978SerfsTer11) c.6002_6041del (p.Met2001SerfsTer11) c.5630_5669del (p.Met1877SerfsTer11) c.5786_5825del (p.Met1929SerfsTer11) c.5993_6032del (p.Met1998SerfsTer11) c.5294_5333del (p.Met1765SerfsTer11) c.6041_6080del (p.Met2014SerfsTer11) | gnomAD v4 |
16 | g.3728996A>C | CA493393938 | CREBBP | c.6051T>G (p.Pro2017=) c.5937T>G (p.Pro1979=) c.6006T>G (p.Pro2002=) c.5634T>G (p.Pro1878=) c.5790T>G (p.Pro1930=) c.5997T>G (p.Pro1999=) c.5298T>G (p.Pro1766=) c.6045T>G (p.Pro2015=) | |
16 | g.3728996A>G | CA493393940 | CREBBP | c.6051T>C (p.Pro2017=) c.5937T>C (p.Pro1979=) c.6006T>C (p.Pro2002=) c.5634T>C (p.Pro1878=) c.5790T>C (p.Pro1930=) c.5997T>C (p.Pro1999=) c.5298T>C (p.Pro1766=) c.6045T>C (p.Pro2015=) | |
16 | g.3728996A>T | CA493393942 | CREBBP | c.6051T>A (p.Pro2017=) c.5937T>A (p.Pro1979=) c.6006T>A (p.Pro2002=) c.5634T>A (p.Pro1878=) c.5790T>A (p.Pro1930=) c.5997T>A (p.Pro1999=) c.5298T>A (p.Pro1766=) c.6045T>A (p.Pro2015=) | |
16 | g.3728997G>A | CA276971797 | CREBBP | c.6050C>T (p.Pro2017Leu) c.5936C>T (p.Pro1979Leu) c.6005C>T (p.Pro2002Leu) c.5633C>T (p.Pro1878Leu) c.5789C>T (p.Pro1930Leu) c.5996C>T (p.Pro1999Leu) c.5297C>T (p.Pro1766Leu) c.6044C>T (p.Pro2015Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.3728997G>C | CA394554438 | CREBBP | c.6050C>G (p.Pro2017Arg) c.5936C>G (p.Pro1979Arg) c.6005C>G (p.Pro2002Arg) c.5633C>G (p.Pro1878Arg) c.5789C>G (p.Pro1930Arg) c.5996C>G (p.Pro1999Arg) c.5297C>G (p.Pro1766Arg) c.6044C>G (p.Pro2015Arg) | dbSNP gnomAD v4 |
16 | g.3728997G= | CA2202916153 | CREBBP | c.6050C= (p.Pro2017=) c.5936C= (p.Pro1979=) c.6005C= (p.Pro2002=) c.5633C= (p.Pro1878=) c.5789C= (p.Pro1930=) c.5996C= (p.Pro1999=) c.5297C= (p.Pro1766=) c.6044C= (p.Pro2015=) | |
16 | g.3728997G>T | CA394554440 | CREBBP | c.6050C>A (p.Pro2017His) c.5936C>A (p.Pro1979His) c.6005C>A (p.Pro2002His) c.5633C>A (p.Pro1878His) c.5789C>A (p.Pro1930His) c.5996C>A (p.Pro1999His) c.5297C>A (p.Pro1766His) c.6044C>A (p.Pro2015His) | dbSNP gnomAD v4 |
16 | g.3728997_3729003dup | CA2695222619 | CREBBP | c.6044_6050dup (p.Pro2018HisfsTer?) c.5930_5936dup (p.Pro1980HisfsTer?) c.5999_6005dup (p.Pro2003HisfsTer?) c.5627_5633dup (p.Pro1879HisfsTer?) c.5783_5789dup (p.Pro1931HisfsTer?) c.5990_5996dup (p.Pro2000HisfsTer?) c.5291_5297dup (p.Pro1767HisfsTer?) c.6038_6044dup (p.Pro2016HisfsTer?) | |
16 | g.3728998G>A | CA394554443 | CREBBP | c.6049C>T (p.Pro2017Ser) c.5935C>T (p.Pro1979Ser) c.6004C>T (p.Pro2002Ser) c.5632C>T (p.Pro1878Ser) c.5788C>T (p.Pro1930Ser) c.5995C>T (p.Pro1999Ser) c.5296C>T (p.Pro1766Ser) c.6043C>T (p.Pro2015Ser) | dbSNP gnomAD v4 |
16 | g.3728998G>C | CA394554445 | CREBBP | c.6049C>G (p.Pro2017Ala) c.5935C>G (p.Pro1979Ala) c.6004C>G (p.Pro2002Ala) c.5632C>G (p.Pro1878Ala) c.5788C>G (p.Pro1930Ala) c.5995C>G (p.Pro1999Ala) c.5296C>G (p.Pro1766Ala) c.6043C>G (p.Pro2015Ala) | gnomAD v4 |
16 | g.3728998G>T | CA394554446 | CREBBP | c.6049C>A (p.Pro2017Thr) c.5935C>A (p.Pro1979Thr) c.6004C>A (p.Pro2002Thr) c.5632C>A (p.Pro1878Thr) c.5788C>A (p.Pro1930Thr) c.5995C>A (p.Pro1999Thr) c.5296C>A (p.Pro1766Thr) c.6043C>A (p.Pro2015Thr) | gnomAD v4 |
16 | g.3728999C>A | CA394554449 | CREBBP | c.6048G>T (p.Met2016Ile) c.5934G>T (p.Met1978Ile) c.6003G>T (p.Met2001Ile) c.5631G>T (p.Met1877Ile) c.5787G>T (p.Met1929Ile) c.5994G>T (p.Met1998Ile) c.5295G>T (p.Met1765Ile) c.6042G>T (p.Met2014Ile) | gnomAD v4 |
16 | g.3728999C>G | CA394554451 | CREBBP | c.6048G>C (p.Met2016Ile) c.5934G>C (p.Met1978Ile) c.6003G>C (p.Met2001Ile) c.5631G>C (p.Met1877Ile) c.5787G>C (p.Met1929Ile) c.5994G>C (p.Met1998Ile) c.5295G>C (p.Met1765Ile) c.6042G>C (p.Met2014Ile) | dbSNP |
16 | g.3728999C>T | CA394554452 | CREBBP | c.6048G>A (p.Met2016Ile) c.5934G>A (p.Met1978Ile) c.6003G>A (p.Met2001Ile) c.5631G>A (p.Met1877Ile) c.5787G>A (p.Met1929Ile) c.5994G>A (p.Met1998Ile) c.5295G>A (p.Met1765Ile) c.6042G>A (p.Met2014Ile) | dbSNP gnomAD v4 |
16 | g.3729000A>C | CA394554455 | CREBBP | c.6047T>G (p.Met2016Arg) c.5933T>G (p.Met1978Arg) c.6002T>G (p.Met2001Arg) c.5630T>G (p.Met1877Arg) c.5786T>G (p.Met1929Arg) c.5993T>G (p.Met1998Arg) c.5294T>G (p.Met1765Arg) c.6041T>G (p.Met2014Arg) | |
16 | g.3729000A>G | CA394554456 | CREBBP | c.6047T>C (p.Met2016Thr) c.5933T>C (p.Met1978Thr) c.6002T>C (p.Met2001Thr) c.5630T>C (p.Met1877Thr) c.5786T>C (p.Met1929Thr) c.5993T>C (p.Met1998Thr) c.5294T>C (p.Met1765Thr) c.6041T>C (p.Met2014Thr) | gnomAD v4 |
16 | g.3729000A>T | CA394554453 | CREBBP | c.6047T>A (p.Met2016Lys) c.5933T>A (p.Met1978Lys) c.6002T>A (p.Met2001Lys) c.5630T>A (p.Met1877Lys) c.5786T>A (p.Met1929Lys) c.5993T>A (p.Met1998Lys) c.5294T>A (p.Met1765Lys) c.6041T>A (p.Met2014Lys) | dbSNP |
16 | g.3729001T>A | CA394554458 | CREBBP | c.6046A>T (p.Met2016Leu) c.5932A>T (p.Met1978Leu) c.6001A>T (p.Met2001Leu) c.5629A>T (p.Met1877Leu) c.5785A>T (p.Met1929Leu) c.5992A>T (p.Met1998Leu) c.5293A>T (p.Met1765Leu) c.6040A>T (p.Met2014Leu) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.3729001T>C | CA394554461 | CREBBP | c.6046A>G (p.Met2016Val) c.5932A>G (p.Met1978Val) c.6001A>G (p.Met2001Val) c.5629A>G (p.Met1877Val) c.5785A>G (p.Met1929Val) c.5992A>G (p.Met1998Val) c.5293A>G (p.Met1765Val) c.6040A>G (p.Met2014Val) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.3729001T>G | CA394554460 | CREBBP | c.6046A>C (p.Met2016Leu) c.5932A>C (p.Met1978Leu) c.6001A>C (p.Met2001Leu) c.5629A>C (p.Met1877Leu) c.5785A>C (p.Met1929Leu) c.5992A>C (p.Met1998Leu) c.5293A>C (p.Met1765Leu) c.6040A>C (p.Met2014Leu) | dbSNP |
16 | g.3729001T= | CA2202916154 | CREBBP | c.6046A= (p.Met2016=) c.5932A= (p.Met1978=) c.6001A= (p.Met2001=) c.5629A= (p.Met1877=) c.5785A= (p.Met1929=) c.5992A= (p.Met1998=) c.5293A= (p.Met1765=) c.6040A= (p.Met2014=) | |
16 | g.3729002G>A | CA493393950 | CREBBP | c.6045C>T (p.Ser2015=) c.5931C>T (p.Ser1977=) c.6000C>T (p.Ser2000=) c.5628C>T (p.Ser1876=) c.5784C>T (p.Ser1928=) c.5991C>T (p.Ser1997=) c.5292C>T (p.Ser1764=) c.6039C>T (p.Ser2013=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.3729002G>C | CA394554463 | CREBBP | c.6045C>G (p.Ser2015Arg) c.5931C>G (p.Ser1977Arg) c.6000C>G (p.Ser2000Arg) c.5628C>G (p.Ser1876Arg) c.5784C>G (p.Ser1928Arg) c.5991C>G (p.Ser1997Arg) c.5292C>G (p.Ser1764Arg) c.6039C>G (p.Ser2013Arg) | dbSNP |
16 | g.3729002G= | CA2202916155 | CREBBP | c.6045C= (p.Ser2015=) c.5931C= (p.Ser1977=) c.6000C= (p.Ser2000=) c.5628C= (p.Ser1876=) c.5784C= (p.Ser1928=) c.5991C= (p.Ser1997=) c.5292C= (p.Ser1764=) c.6039C= (p.Ser2013=) | |
16 | g.3729002G>T | CA394554465 | CREBBP | c.6045C>A (p.Ser2015Arg) c.5931C>A (p.Ser1977Arg) c.6000C>A (p.Ser2000Arg) c.5628C>A (p.Ser1876Arg) c.5784C>A (p.Ser1928Arg) c.5991C>A (p.Ser1997Arg) c.5292C>A (p.Ser1764Arg) c.6039C>A (p.Ser2013Arg) | gnomAD v4 |
16 | g.3729003C>A | CA394554467 | CREBBP | c.6044G>T (p.Ser2015Ile) c.5930G>T (p.Ser1977Ile) c.5999G>T (p.Ser2000Ile) c.5627G>T (p.Ser1876Ile) c.5783G>T (p.Ser1928Ile) c.5990G>T (p.Ser1997Ile) c.5291G>T (p.Ser1764Ile) c.6038G>T (p.Ser2013Ile) | dbSNP gnomAD v4 |
16 | g.3729003C>G | CA394554469 | CREBBP | c.6044G>C (p.Ser2015Thr) c.5930G>C (p.Ser1977Thr) c.5999G>C (p.Ser2000Thr) c.5627G>C (p.Ser1876Thr) c.5783G>C (p.Ser1928Thr) c.5990G>C (p.Ser1997Thr) c.5291G>C (p.Ser1764Thr) c.6038G>C (p.Ser2013Thr) | dbSNP gnomAD v4 |
16 | g.3729003C>T | CA394554471 | CREBBP | c.6044G>A (p.Ser2015Asn) c.5930G>A (p.Ser1977Asn) c.5999G>A (p.Ser2000Asn) c.5627G>A (p.Ser1876Asn) c.5783G>A (p.Ser1928Asn) c.5990G>A (p.Ser1997Asn) c.5291G>A (p.Ser1764Asn) c.6038G>A (p.Ser2013Asn) | dbSNP gnomAD v4 |
16 | g.3729004del | CA2695222620 | CREBBP | c.6043del (p.Ser2015AlafsTer25) c.5929del (p.Ser1977AlafsTer25) c.5998del (p.Ser2000AlafsTer25) c.5626del (p.Ser1876AlafsTer25) c.5782del (p.Ser1928AlafsTer25) c.5989del (p.Ser1997AlafsTer25) c.5290del (p.Ser1764AlafsTer25) c.6037del (p.Ser2013AlafsTer25) | |
16 | g.3729004T>A | CA394554474 | CREBBP | c.6043A>T (p.Ser2015Cys) c.5929A>T (p.Ser1977Cys) c.5998A>T (p.Ser2000Cys) c.5626A>T (p.Ser1876Cys) c.5782A>T (p.Ser1928Cys) c.5989A>T (p.Ser1997Cys) c.5290A>T (p.Ser1764Cys) c.6037A>T (p.Ser2013Cys) | |
16 | g.3729004T>C | CA394554476 | CREBBP | c.6043A>G (p.Ser2015Gly) c.5929A>G (p.Ser1977Gly) c.5998A>G (p.Ser2000Gly) c.5626A>G (p.Ser1876Gly) c.5782A>G (p.Ser1928Gly) c.5989A>G (p.Ser1997Gly) c.5290A>G (p.Ser1764Gly) c.6037A>G (p.Ser2013Gly) | gnomAD v4 |
16 | g.3729004T>G | CA394554477 | CREBBP | c.6043A>C (p.Ser2015Arg) c.5929A>C (p.Ser1977Arg) c.5998A>C (p.Ser2000Arg) c.5626A>C (p.Ser1876Arg) c.5782A>C (p.Ser1928Arg) c.5989A>C (p.Ser1997Arg) c.5290A>C (p.Ser1764Arg) c.6037A>C (p.Ser2013Arg) | |
16 | g.3729004dup | CA2573152059 | CREBBP | c.6043dup (p.Ser2015LysfsTer?) c.5929dup (p.Ser1977LysfsTer?) c.5998dup (p.Ser2000LysfsTer?) c.5626dup (p.Ser1876LysfsTer?) c.5782dup (p.Ser1928LysfsTer?) c.5989dup (p.Ser1997LysfsTer?) c.5290dup (p.Ser1764LysfsTer?) c.6037dup (p.Ser2013LysfsTer?) | ClinVar dbSNP |
16 | g.3729005G>A | CA493393960 | CREBBP | c.6042C>T (p.Pro2014=) c.5928C>T (p.Pro1976=) c.5997C>T (p.Pro1999=) c.5625C>T (p.Pro1875=) c.5781C>T (p.Pro1927=) c.5988C>T (p.Pro1996=) c.5289C>T (p.Pro1763=) c.6036C>T (p.Pro2012=) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.3729005G>C | CA493393962 | CREBBP | c.6042C>G (p.Pro2014=) c.5928C>G (p.Pro1976=) c.5997C>G (p.Pro1999=) c.5625C>G (p.Pro1875=) c.5781C>G (p.Pro1927=) c.5988C>G (p.Pro1996=) c.5289C>G (p.Pro1763=) c.6036C>G (p.Pro2012=) | dbSNP |
16 | g.3729005G= | CA2202916156 | CREBBP | c.6042C= (p.Pro2014=) c.5928C= (p.Pro1976=) c.5997C= (p.Pro1999=) c.5625C= (p.Pro1875=) c.5781C= (p.Pro1927=) c.5988C= (p.Pro1996=) c.5289C= (p.Pro1763=) c.6036C= (p.Pro2012=) | |
16 | g.3729005G>T | CA493393961 | CREBBP | c.6042C>A (p.Pro2014=) c.5928C>A (p.Pro1976=) c.5997C>A (p.Pro1999=) c.5625C>A (p.Pro1875=) c.5781C>A (p.Pro1927=) c.5988C>A (p.Pro1996=) c.5289C>A (p.Pro1763=) c.6036C>A (p.Pro2012=) | gnomAD v4 |
16 | g.3729007del | CA2631403250 | CREBBP | c.6042del (p.Ser2015AlafsTer25) c.5928del (p.Ser1977AlafsTer25) c.5997del (p.Ser2000AlafsTer25) c.5625del (p.Ser1876AlafsTer25) c.5781del (p.Ser1928AlafsTer25) c.5988del (p.Ser1997AlafsTer25) c.5289del (p.Ser1764AlafsTer25) c.6036del (p.Ser2013AlafsTer25) | dbSNP gnomAD v4 |
16 | g.3729006G>A | CA394554480 | CREBBP | c.6041C>T (p.Pro2014Leu) c.5927C>T (p.Pro1976Leu) c.5996C>T (p.Pro1999Leu) c.5624C>T (p.Pro1875Leu) c.5780C>T (p.Pro1927Leu) c.5987C>T (p.Pro1996Leu) c.5288C>T (p.Pro1763Leu) c.6035C>T (p.Pro2012Leu) | dbSNP gnomAD v4 |
16 | g.3729006G>C | CA394554481 | CREBBP | c.6041C>G (p.Pro2014Arg) c.5927C>G (p.Pro1976Arg) c.5996C>G (p.Pro1999Arg) c.5624C>G (p.Pro1875Arg) c.5780C>G (p.Pro1927Arg) c.5987C>G (p.Pro1996Arg) c.5288C>G (p.Pro1763Arg) c.6035C>G (p.Pro2012Arg) | dbSNP |
16 | g.3729006G>T | CA394554482 | CREBBP | c.6041C>A (p.Pro2014His) c.5927C>A (p.Pro1976His) c.5996C>A (p.Pro1999His) c.5624C>A (p.Pro1875His) c.5780C>A (p.Pro1927His) c.5987C>A (p.Pro1996His) c.5288C>A (p.Pro1763His) c.6035C>A (p.Pro2012His) | gnomAD v4 |
16 | g.3729007G>A | CA394554488 | CREBBP | c.6040C>T (p.Pro2014Ser) c.5926C>T (p.Pro1976Ser) c.5995C>T (p.Pro1999Ser) c.5623C>T (p.Pro1875Ser) c.5779C>T (p.Pro1927Ser) c.5986C>T (p.Pro1996Ser) c.5287C>T (p.Pro1763Ser) c.6034C>T (p.Pro2012Ser) | dbSNP gnomAD v4 |
16 | g.3729007G>C | CA394554486 | CREBBP | c.6040C>G (p.Pro2014Ala) c.5926C>G (p.Pro1976Ala) c.5995C>G (p.Pro1999Ala) c.5623C>G (p.Pro1875Ala) c.5779C>G (p.Pro1927Ala) c.5986C>G (p.Pro1996Ala) c.5287C>G (p.Pro1763Ala) c.6034C>G (p.Pro2012Ala) | dbSNP gnomAD v4 |
16 | g.3729007G= | CA2202916157 | CREBBP | c.6040C= (p.Pro2014=) c.5926C= (p.Pro1976=) c.5995C= (p.Pro1999=) c.5623C= (p.Pro1875=) c.5779C= (p.Pro1927=) c.5986C= (p.Pro1996=) c.5287C= (p.Pro1763=) c.6034C= (p.Pro2012=) | |
16 | g.3729007G>T | CA394554484 | CREBBP | c.6040C>A (p.Pro2014Thr) c.5926C>A (p.Pro1976Thr) c.5995C>A (p.Pro1999Thr) c.5623C>A (p.Pro1875Thr) c.5779C>A (p.Pro1927Thr) c.5986C>A (p.Pro1996Thr) c.5287C>A (p.Pro1763Thr) c.6034C>A (p.Pro2012Thr) | gnomAD v4 |
16 | g.3729008C>A | CA394554490 | CREBBP | c.6039G>T (p.Met2013Ile) c.5925G>T (p.Met1975Ile) c.5994G>T (p.Met1998Ile) c.5622G>T (p.Met1874Ile) c.5778G>T (p.Met1926Ile) c.5985G>T (p.Met1995Ile) c.5286G>T (p.Met1762Ile) c.6033G>T (p.Met2011Ile) | gnomAD v4 |
16 | g.3729008C= | CA2202916158 | CREBBP | c.6039G= (p.Met2013=) c.5925G= (p.Met1975=) c.5994G= (p.Met1998=) c.5622G= (p.Met1874=) c.5778G= (p.Met1926=) c.5985G= (p.Met1995=) c.5286G= (p.Met1762=) c.6033G= (p.Met2011=) | |
16 | g.3729008C>G | CA394554492 | CREBBP | c.6039G>C (p.Met2013Ile) c.5925G>C (p.Met1975Ile) c.5994G>C (p.Met1998Ile) c.5622G>C (p.Met1874Ile) c.5778G>C (p.Met1926Ile) c.5985G>C (p.Met1995Ile) c.5286G>C (p.Met1762Ile) c.6033G>C (p.Met2011Ile) | dbSNP |
16 | g.3729008C>T | CA7869193 | CREBBP | c.6039G>A (p.Met2013Ile) c.5925G>A (p.Met1975Ile) c.5994G>A (p.Met1998Ile) c.5622G>A (p.Met1874Ile) c.5778G>A (p.Met1926Ile) c.5985G>A (p.Met1995Ile) c.5286G>A (p.Met1762Ile) c.6033G>A (p.Met2011Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3729009A>C | CA394554495 | CREBBP | c.6038T>G (p.Met2013Arg) c.5924T>G (p.Met1975Arg) c.5993T>G (p.Met1998Arg) c.5621T>G (p.Met1874Arg) c.5777T>G (p.Met1926Arg) c.5984T>G (p.Met1995Arg) c.5285T>G (p.Met1762Arg) c.6032T>G (p.Met2011Arg) | dbSNP gnomAD v4 |
16 | g.3729009A>G | CA394554497 | CREBBP | c.6038T>C (p.Met2013Thr) c.5924T>C (p.Met1975Thr) c.5993T>C (p.Met1998Thr) c.5621T>C (p.Met1874Thr) c.5777T>C (p.Met1926Thr) c.5984T>C (p.Met1995Thr) c.5285T>C (p.Met1762Thr) c.6032T>C (p.Met2011Thr) | |
16 | g.3729009A>T | CA394554499 | CREBBP | c.6038T>A (p.Met2013Lys) c.5924T>A (p.Met1975Lys) c.5993T>A (p.Met1998Lys) c.5621T>A (p.Met1874Lys) c.5777T>A (p.Met1926Lys) c.5984T>A (p.Met1995Lys) c.5285T>A (p.Met1762Lys) c.6032T>A (p.Met2011Lys) | dbSNP |
16 | g.3729010T>A | CA394554502 | CREBBP | c.6037A>T (p.Met2013Leu) c.5923A>T (p.Met1975Leu) c.5992A>T (p.Met1998Leu) c.5620A>T (p.Met1874Leu) c.5776A>T (p.Met1926Leu) c.5983A>T (p.Met1995Leu) c.5284A>T (p.Met1762Leu) c.6031A>T (p.Met2011Leu) | gnomAD v4 |
16 | g.3729010T>C | CA394554503 | CREBBP | c.6037A>G (p.Met2013Val) c.5923A>G (p.Met1975Val) c.5992A>G (p.Met1998Val) c.5620A>G (p.Met1874Val) c.5776A>G (p.Met1926Val) c.5983A>G (p.Met1995Val) c.5284A>G (p.Met1762Val) c.6031A>G (p.Met2011Val) | dbSNP |
16 | g.3729010T>G | CA394554505 | CREBBP | c.6037A>C (p.Met2013Leu) c.5923A>C (p.Met1975Leu) c.5992A>C (p.Met1998Leu) c.5620A>C (p.Met1874Leu) c.5776A>C (p.Met1926Leu) c.5983A>C (p.Met1995Leu) c.5284A>C (p.Met1762Leu) c.6031A>C (p.Met2011Leu) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.3729010T= | CA2202916159 | CREBBP | c.6037A= (p.Met2013=) c.5923A= (p.Met1975=) c.5992A= (p.Met1998=) c.5620A= (p.Met1874=) c.5776A= (p.Met1926=) c.5983A= (p.Met1995=) c.5284A= (p.Met1762=) c.6031A= (p.Met2011=) | |
16 | g.3729011G>A | CA493393977 | CREBBP | c.6036C>T (p.Val2012=) c.5922C>T (p.Val1974=) c.5991C>T (p.Val1997=) c.5619C>T (p.Val1873=) c.5775C>T (p.Val1925=) c.5982C>T (p.Val1994=) c.5283C>T (p.Val1761=) c.6030C>T (p.Val2010=) | dbSNP gnomAD v4 |
16 | g.3729011G>C | CA493393978 | CREBBP | c.6036C>G (p.Val2012=) c.5922C>G (p.Val1974=) c.5991C>G (p.Val1997=) c.5619C>G (p.Val1873=) c.5775C>G (p.Val1925=) c.5982C>G (p.Val1994=) c.5283C>G (p.Val1761=) c.6030C>G (p.Val2010=) | dbSNP |
16 | g.3729011G>T | CA493393979 | CREBBP | c.6036C>A (p.Val2012=) c.5922C>A (p.Val1974=) c.5991C>A (p.Val1997=) c.5619C>A (p.Val1873=) c.5775C>A (p.Val1925=) c.5982C>A (p.Val1994=) c.5283C>A (p.Val1761=) c.6030C>A (p.Val2010=) | gnomAD v4 |
16 | g.3729012A= | CA2202916160 | CREBBP | c.6035T= (p.Val2012=) c.5921T= (p.Val1974=) c.5990T= (p.Val1997=) c.5618T= (p.Val1873=) c.5774T= (p.Val1925=) c.5981T= (p.Val1994=) c.5282T= (p.Val1761=) c.6029T= (p.Val2010=) | |
16 | g.3729012A>C | CA394554508 | CREBBP | c.6035T>G (p.Val2012Gly) c.5921T>G (p.Val1974Gly) c.5990T>G (p.Val1997Gly) c.5618T>G (p.Val1873Gly) c.5774T>G (p.Val1925Gly) c.5981T>G (p.Val1994Gly) c.5282T>G (p.Val1761Gly) c.6029T>G (p.Val2010Gly) | dbSNP |
16 | g.3729012A>G | CA394554509 | CREBBP | c.6035T>C (p.Val2012Ala) c.5921T>C (p.Val1974Ala) c.5990T>C (p.Val1997Ala) c.5618T>C (p.Val1873Ala) c.5774T>C (p.Val1925Ala) c.5981T>C (p.Val1994Ala) c.5282T>C (p.Val1761Ala) c.6029T>C (p.Val2010Ala) | dbSNP gnomAD v4 |
16 | g.3729012A>T | CA394554510 | CREBBP | c.6035T>A (p.Val2012Asp) c.5921T>A (p.Val1974Asp) c.5990T>A (p.Val1997Asp) c.5618T>A (p.Val1873Asp) c.5774T>A (p.Val1925Asp) c.5981T>A (p.Val1994Asp) c.5282T>A (p.Val1761Asp) c.6029T>A (p.Val2010Asp) | dbSNP gnomAD v2 |
16 | g.3729013C>A | CA7869194 | CREBBP | c.6034G>T (p.Val2012Phe) c.5920G>T (p.Val1974Phe) c.5989G>T (p.Val1997Phe) c.5617G>T (p.Val1873Phe) c.5773G>T (p.Val1925Phe) c.5980G>T (p.Val1994Phe) c.5281G>T (p.Val1761Phe) c.6028G>T (p.Val2010Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.3729013C= | CA2202916161 | CREBBP | c.6034G= (p.Val2012=) c.5920G= (p.Val1974=) c.5989G= (p.Val1997=) c.5617G= (p.Val1873=) c.5773G= (p.Val1925=) c.5980G= (p.Val1994=) c.5281G= (p.Val1761=) c.6028G= (p.Val2010=) | |
16 | g.3729013C>G | CA394554514 | CREBBP | c.6034G>C (p.Val2012Leu) c.5920G>C (p.Val1974Leu) c.5989G>C (p.Val1997Leu) c.5617G>C (p.Val1873Leu) c.5773G>C (p.Val1925Leu) c.5980G>C (p.Val1994Leu) c.5281G>C (p.Val1761Leu) c.6028G>C (p.Val2010Leu) | dbSNP |
16 | g.3729013C>T | CA7869195 | CREBBP | c.6034G>A (p.Val2012Ile) c.5920G>A (p.Val1974Ile) c.5989G>A (p.Val1997Ile) c.5617G>A (p.Val1873Ile) c.5773G>A (p.Val1925Ile) c.5980G>A (p.Val1994Ile) c.5281G>A (p.Val1761Ile) c.6028G>A (p.Val2010Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3729014G>A | CA7869196 | CREBBP | c.6033C>T (p.Pro2011=) c.5919C>T (p.Pro1973=) c.5988C>T (p.Pro1996=) c.5616C>T (p.Pro1872=) c.5772C>T (p.Pro1924=) c.5979C>T (p.Pro1993=) c.5280C>T (p.Pro1760=) c.6027C>T (p.Pro2009=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.3729014G>C | CA493393990 | CREBBP | c.6033C>G (p.Pro2011=) c.5919C>G (p.Pro1973=) c.5988C>G (p.Pro1996=) c.5616C>G (p.Pro1872=) c.5772C>G (p.Pro1924=) c.5979C>G (p.Pro1993=) c.5280C>G (p.Pro1760=) c.6027C>G (p.Pro2009=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3729014G= | CA2202916162 | CREBBP | c.6033C= (p.Pro2011=) c.5919C= (p.Pro1973=) c.5988C= (p.Pro1996=) c.5616C= (p.Pro1872=) c.5772C= (p.Pro1924=) c.5979C= (p.Pro1993=) c.5280C= (p.Pro1760=) c.6027C= (p.Pro2009=) | |
16 | g.3729014G>T | CA493393992 | CREBBP | c.6033C>A (p.Pro2011=) c.5919C>A (p.Pro1973=) c.5988C>A (p.Pro1996=) c.5616C>A (p.Pro1872=) c.5772C>A (p.Pro1924=) c.5979C>A (p.Pro1993=) c.5280C>A (p.Pro1760=) c.6027C>A (p.Pro2009=) | gnomAD v4 |
16 | g.3729016dup | CA1139664468 | CREBBP | c.6033dup (p.Val2012ArgfsTer?) c.5919dup (p.Val1974ArgfsTer?) c.5988dup (p.Val1997ArgfsTer?) c.5616dup (p.Val1873ArgfsTer?) c.5772dup (p.Val1925ArgfsTer?) c.5979dup (p.Val1994ArgfsTer?) c.5280dup (p.Val1761ArgfsTer?) c.6027dup (p.Val2010ArgfsTer?) | ClinVar dbSNP |
16 | g.3729015G>A | CA394554518 | CREBBP | c.6032C>T (p.Pro2011Leu) c.5918C>T (p.Pro1973Leu) c.5987C>T (p.Pro1996Leu) c.5615C>T (p.Pro1872Leu) c.5771C>T (p.Pro1924Leu) c.5978C>T (p.Pro1993Leu) c.5279C>T (p.Pro1760Leu) c.6026C>T (p.Pro2009Leu) | dbSNP |
16 | g.3729015G>C | CA394554520 | CREBBP | c.6032C>G (p.Pro2011Arg) c.5918C>G (p.Pro1973Arg) c.5987C>G (p.Pro1996Arg) c.5615C>G (p.Pro1872Arg) c.5771C>G (p.Pro1924Arg) c.5978C>G (p.Pro1993Arg) c.5279C>G (p.Pro1760Arg) c.6026C>G (p.Pro2009Arg) | dbSNP gnomAD v4 |
16 | g.3729015G= | CA2202916163 | CREBBP | c.6032C= (p.Pro2011=) c.5918C= (p.Pro1973=) c.5987C= (p.Pro1996=) c.5615C= (p.Pro1872=) c.5771C= (p.Pro1924=) c.5978C= (p.Pro1993=) c.5279C= (p.Pro1760=) c.6026C= (p.Pro2009=) | |
16 | g.3729015G>T | CA394554521 | CREBBP | c.6032C>A (p.Pro2011His) c.5918C>A (p.Pro1973His) c.5987C>A (p.Pro1996His) c.5615C>A (p.Pro1872His) c.5771C>A (p.Pro1924His) c.5978C>A (p.Pro1993His) c.5279C>A (p.Pro1760His) c.6026C>A (p.Pro2009His) | dbSNP gnomAD v4 |
16 | g.3729016G>A | CA394554523 | CREBBP | c.6031C>T (p.Pro2011Ser) c.5917C>T (p.Pro1973Ser) c.5986C>T (p.Pro1996Ser) c.5614C>T (p.Pro1872Ser) c.5770C>T (p.Pro1924Ser) c.5977C>T (p.Pro1993Ser) c.5278C>T (p.Pro1760Ser) c.6025C>T (p.Pro2009Ser) | dbSNP gnomAD v4 |
16 | g.3729016G>C | CA394554525 | CREBBP | c.6031C>G (p.Pro2011Ala) c.5917C>G (p.Pro1973Ala) c.5986C>G (p.Pro1996Ala) c.5614C>G (p.Pro1872Ala) c.5770C>G (p.Pro1924Ala) c.5977C>G (p.Pro1993Ala) c.5278C>G (p.Pro1760Ala) c.6025C>G (p.Pro2009Ala) | dbSNP |
16 | g.3729016G= | CA2202916164 | CREBBP | c.6031C= (p.Pro2011=) c.5917C= (p.Pro1973=) c.5986C= (p.Pro1996=) c.5614C= (p.Pro1872=) c.5770C= (p.Pro1924=) c.5977C= (p.Pro1993=) c.5278C= (p.Pro1760=) c.6025C= (p.Pro2009=) | |
16 | g.3729016G>T | CA394554527 | CREBBP | c.6031C>A (p.Pro2011Thr) c.5917C>A (p.Pro1973Thr) c.5986C>A (p.Pro1996Thr) c.5614C>A (p.Pro1872Thr) c.5770C>A (p.Pro1924Thr) c.5977C>A (p.Pro1993Thr) c.5278C>A (p.Pro1760Thr) c.6025C>A (p.Pro2009Thr) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.3729017C>A | CA493393996 | CREBBP | c.6030G>T (p.Gly2010=) c.5916G>T (p.Gly1972=) c.5985G>T (p.Gly1995=) c.5613G>T (p.Gly1871=) c.5769G>T (p.Gly1923=) c.5976G>T (p.Gly1992=) c.5277G>T (p.Gly1759=) c.6024G>T (p.Gly2008=) | dbSNP gnomAD v4 |
16 | g.3729017C= | CA2202916165 | CREBBP | c.6030G= (p.Gly2010=) c.5916G= (p.Gly1972=) c.5985G= (p.Gly1995=) c.5613G= (p.Gly1871=) c.5769G= (p.Gly1923=) c.5976G= (p.Gly1992=) c.5277G= (p.Gly1759=) c.6024G= (p.Gly2008=) | |
16 | g.3729017C>G | CA493393998 | CREBBP | c.6030G>C (p.Gly2010=) c.5916G>C (p.Gly1972=) c.5985G>C (p.Gly1995=) c.5613G>C (p.Gly1871=) c.5769G>C (p.Gly1923=) c.5976G>C (p.Gly1992=) c.5277G>C (p.Gly1759=) c.6024G>C (p.Gly2008=) | |
16 | g.3729017C>T | CA493393997 | CREBBP | c.6030G>A (p.Gly2010=) c.5916G>A (p.Gly1972=) c.5985G>A (p.Gly1995=) c.5613G>A (p.Gly1871=) c.5769G>A (p.Gly1923=) c.5976G>A (p.Gly1992=) c.5277G>A (p.Gly1759=) c.6024G>A (p.Gly2008=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.3729019del | CA2840860807 | CREBBP | c.6030del (p.Val2012SerfsTer28) c.5916del (p.Val1974SerfsTer28) c.5985del (p.Val1997SerfsTer28) c.5613del (p.Val1873SerfsTer28) c.5769del (p.Val1925SerfsTer28) c.5976del (p.Val1994SerfsTer28) c.5277del (p.Val1761SerfsTer28) c.6024del (p.Val2010SerfsTer28) | |
16 | g.3729018C>A | CA7869197 | CREBBP | c.6029G>T (p.Gly2010Val) c.5915G>T (p.Gly1972Val) c.5984G>T (p.Gly1995Val) c.5612G>T (p.Gly1871Val) c.5768G>T (p.Gly1923Val) c.5975G>T (p.Gly1992Val) c.5276G>T (p.Gly1759Val) c.6023G>T (p.Gly2008Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3729018C= | CA2202916166 | CREBBP | c.6029G= (p.Gly2010=) c.5915G= (p.Gly1972=) c.5984G= (p.Gly1995=) c.5612G= (p.Gly1871=) c.5768G= (p.Gly1923=) c.5975G= (p.Gly1992=) c.5276G= (p.Gly1759=) c.6023G= (p.Gly2008=) | |
16 | g.3729018C>G | CA394554530 | CREBBP | c.6029G>C (p.Gly2010Ala) c.5915G>C (p.Gly1972Ala) c.5984G>C (p.Gly1995Ala) c.5612G>C (p.Gly1871Ala) c.5768G>C (p.Gly1923Ala) c.5975G>C (p.Gly1992Ala) c.5276G>C (p.Gly1759Ala) c.6023G>C (p.Gly2008Ala) | dbSNP |
16 | g.3729018C>T | CA394554532 | CREBBP | c.6029G>A (p.Gly2010Glu) c.5915G>A (p.Gly1972Glu) c.5984G>A (p.Gly1995Glu) c.5612G>A (p.Gly1871Glu) c.5768G>A (p.Gly1923Glu) c.5975G>A (p.Gly1992Glu) c.5276G>A (p.Gly1759Glu) c.6023G>A (p.Gly2008Glu) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.3729019C>A | CA394554535 | CREBBP | c.6028G>T (p.Gly2010Trp) c.5914G>T (p.Gly1972Trp) c.5983G>T (p.Gly1995Trp) c.5611G>T (p.Gly1871Trp) c.5767G>T (p.Gly1923Trp) c.5974G>T (p.Gly1992Trp) c.5275G>T (p.Gly1759Trp) c.6022G>T (p.Gly2008Trp) | dbSNP gnomAD v4 |
16 | g.3729019C= | CA2202916167 | CREBBP | c.6028G= (p.Gly2010=) c.5914G= (p.Gly1972=) c.5983G= (p.Gly1995=) c.5611G= (p.Gly1871=) c.5767G= (p.Gly1923=) c.5974G= (p.Gly1992=) c.5275G= (p.Gly1759=) c.6022G= (p.Gly2008=) | |
16 | g.3729019C>G | CA394554536 | CREBBP | c.6028G>C (p.Gly2010Arg) c.5914G>C (p.Gly1972Arg) c.5983G>C (p.Gly1995Arg) c.5611G>C (p.Gly1871Arg) c.5767G>C (p.Gly1923Arg) c.5974G>C (p.Gly1992Arg) c.5275G>C (p.Gly1759Arg) c.6022G>C (p.Gly2008Arg) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.3729019C>T | CA7869198 | CREBBP | c.6028G>A (p.Gly2010Arg) c.5914G>A (p.Gly1972Arg) c.5983G>A (p.Gly1995Arg) c.5611G>A (p.Gly1871Arg) c.5767G>A (p.Gly1923Arg) c.5974G>A (p.Gly1992Arg) c.5275G>A (p.Gly1759Arg) c.6022G>A (p.Gly2008Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.3729020G>A | CA7869199 | CREBBP | c.6027C>T (p.Ser2009=) c.5913C>T (p.Ser1971=) c.5982C>T (p.Ser1994=) c.5610C>T (p.Ser1870=) c.5766C>T (p.Ser1922=) c.5973C>T (p.Ser1991=) c.5274C>T (p.Ser1758=) c.6021C>T (p.Ser2007=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3729020G>C | CA394554540 | CREBBP | c.6027C>G (p.Ser2009Arg) c.5913C>G (p.Ser1971Arg) c.5982C>G (p.Ser1994Arg) c.5610C>G (p.Ser1870Arg) c.5766C>G (p.Ser1922Arg) c.5973C>G (p.Ser1991Arg) c.5274C>G (p.Ser1758Arg) c.6021C>G (p.Ser2007Arg) | dbSNP |
16 | g.3729020G= | CA2202916168 | CREBBP | c.6027C= (p.Ser2009=) c.5913C= (p.Ser1971=) c.5982C= (p.Ser1994=) c.5610C= (p.Ser1870=) c.5766C= (p.Ser1922=) c.5973C= (p.Ser1991=) c.5274C= (p.Ser1758=) c.6021C= (p.Ser2007=) | |
16 | g.3729020G>T | CA394554542 | CREBBP | c.6027C>A (p.Ser2009Arg) c.5913C>A (p.Ser1971Arg) c.5982C>A (p.Ser1994Arg) c.5610C>A (p.Ser1870Arg) c.5766C>A (p.Ser1922Arg) c.5973C>A (p.Ser1991Arg) c.5274C>A (p.Ser1758Arg) c.6021C>A (p.Ser2007Arg) | gnomAD v4 |
16 | g.3729021C>A | CA394554545 | CREBBP | c.6026G>T (p.Ser2009Ile) c.5912G>T (p.Ser1971Ile) c.5981G>T (p.Ser1994Ile) c.5609G>T (p.Ser1870Ile) c.5765G>T (p.Ser1922Ile) c.5972G>T (p.Ser1991Ile) c.5273G>T (p.Ser1758Ile) c.6020G>T (p.Ser2007Ile) | gnomAD v4 |
16 | g.3729021C>G | CA394554546 | CREBBP | c.6026G>C (p.Ser2009Thr) c.5912G>C (p.Ser1971Thr) c.5981G>C (p.Ser1994Thr) c.5609G>C (p.Ser1870Thr) c.5765G>C (p.Ser1922Thr) c.5972G>C (p.Ser1991Thr) c.5273G>C (p.Ser1758Thr) c.6020G>C (p.Ser2007Thr) | dbSNP gnomAD v4 |
16 | g.3729021C>T | CA394554548 | CREBBP | c.6026G>A (p.Ser2009Asn) c.5912G>A (p.Ser1971Asn) c.5981G>A (p.Ser1994Asn) c.5609G>A (p.Ser1870Asn) c.5765G>A (p.Ser1922Asn) c.5972G>A (p.Ser1991Asn) c.5273G>A (p.Ser1758Asn) c.6020G>A (p.Ser2007Asn) | dbSNP gnomAD v4 |
16 | g.3729022T>A | CA394554550 | CREBBP | c.6025A>T (p.Ser2009Cys) c.5911A>T (p.Ser1971Cys) c.5980A>T (p.Ser1994Cys) c.5608A>T (p.Ser1870Cys) c.5764A>T (p.Ser1922Cys) c.5971A>T (p.Ser1991Cys) c.5272A>T (p.Ser1758Cys) c.6019A>T (p.Ser2007Cys) | dbSNP gnomAD v4 |
16 | g.3729022T>C | CA394554552 | CREBBP | c.6025A>G (p.Ser2009Gly) c.5911A>G (p.Ser1971Gly) c.5980A>G (p.Ser1994Gly) c.5608A>G (p.Ser1870Gly) c.5764A>G (p.Ser1922Gly) c.5971A>G (p.Ser1991Gly) c.5272A>G (p.Ser1758Gly) c.6019A>G (p.Ser2007Gly) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.3729022T>G | CA394554554 | CREBBP | c.6025A>C (p.Ser2009Arg) c.5911A>C (p.Ser1971Arg) c.5980A>C (p.Ser1994Arg) c.5608A>C (p.Ser1870Arg) c.5764A>C (p.Ser1922Arg) c.5971A>C (p.Ser1991Arg) c.5272A>C (p.Ser1758Arg) c.6019A>C (p.Ser2007Arg) | |
16 | g.3729022T= | CA2202916169 | CREBBP | c.6025A= (p.Ser2009=) c.5911A= (p.Ser1971=) c.5980A= (p.Ser1994=) c.5608A= (p.Ser1870=) c.5764A= (p.Ser1922=) c.5971A= (p.Ser1991=) c.5272A= (p.Ser1758=) c.6019A= (p.Ser2007=) | |
16 | g.3729023C>A | CA493394171 | CREBBP | c.6024G>T (p.Val2008=) c.5910G>T (p.Val1970=) c.5979G>T (p.Val1993=) c.5607G>T (p.Val1869=) c.5763G>T (p.Val1921=) c.5970G>T (p.Val1990=) c.5271G>T (p.Val1757=) c.6018G>T (p.Val2006=) | dbSNP gnomAD v4 |
16 | g.3729023C>G | CA493394172 | CREBBP | c.6024G>C (p.Val2008=) c.5910G>C (p.Val1970=) c.5979G>C (p.Val1993=) c.5607G>C (p.Val1869=) c.5763G>C (p.Val1921=) c.5970G>C (p.Val1990=) c.5271G>C (p.Val1757=) c.6018G>C (p.Val2006=) | dbSNP gnomAD v4 |
16 | g.3729023C>T | CA493394173 | CREBBP | c.6024G>A (p.Val2008=) c.5910G>A (p.Val1970=) c.5979G>A (p.Val1993=) c.5607G>A (p.Val1869=) c.5763G>A (p.Val1921=) c.5970G>A (p.Val1990=) c.5271G>A (p.Val1757=) c.6018G>A (p.Val2006=) | dbSNP gnomAD v4 |
16 | g.3729024A>C | CA394554556 | CREBBP | c.6023T>G (p.Val2008Gly) c.5909T>G (p.Val1970Gly) c.5978T>G (p.Val1993Gly) c.5606T>G (p.Val1869Gly) c.5762T>G (p.Val1921Gly) c.5969T>G (p.Val1990Gly) c.5270T>G (p.Val1757Gly) c.6017T>G (p.Val2006Gly) | dbSNP |
16 | g.3729024A>G | CA394554557 | CREBBP | c.6023T>C (p.Val2008Ala) c.5909T>C (p.Val1970Ala) c.5978T>C (p.Val1993Ala) c.5606T>C (p.Val1869Ala) c.5762T>C (p.Val1921Ala) c.5969T>C (p.Val1990Ala) c.5270T>C (p.Val1757Ala) c.6017T>C (p.Val2006Ala) | dbSNP |
16 | g.3729024A>T | CA394554558 | CREBBP | c.6023T>A (p.Val2008Glu) c.5909T>A (p.Val1970Glu) c.5978T>A (p.Val1993Glu) c.5606T>A (p.Val1869Glu) c.5762T>A (p.Val1921Glu) c.5969T>A (p.Val1990Glu) c.5270T>A (p.Val1757Glu) c.6017T>A (p.Val2006Glu) | dbSNP |
16 | g.3729025C>A | CA394554560 | CREBBP | c.6022G>T (p.Val2008Leu) c.5908G>T (p.Val1970Leu) c.5977G>T (p.Val1993Leu) c.5605G>T (p.Val1869Leu) c.5761G>T (p.Val1921Leu) c.5968G>T (p.Val1990Leu) c.5269G>T (p.Val1757Leu) c.6016G>T (p.Val2006Leu) | |
16 | g.3729025C= | CA2202916170 | CREBBP | c.6022G= (p.Val2008=) c.5908G= (p.Val1970=) c.5977G= (p.Val1993=) c.5605G= (p.Val1869=) c.5761G= (p.Val1921=) c.5968G= (p.Val1990=) c.5269G= (p.Val1757=) c.6016G= (p.Val2006=) | |
16 | g.3729025C>G | CA394554561 | CREBBP | c.6022G>C (p.Val2008Leu) c.5908G>C (p.Val1970Leu) c.5977G>C (p.Val1993Leu) c.5605G>C (p.Val1869Leu) c.5761G>C (p.Val1921Leu) c.5968G>C (p.Val1990Leu) c.5269G>C (p.Val1757Leu) c.6016G>C (p.Val2006Leu) | dbSNP |
16 | g.3729025C>T | CA394554563 | CREBBP | c.6022G>A (p.Val2008Met) c.5908G>A (p.Val1970Met) c.5977G>A (p.Val1993Met) c.5605G>A (p.Val1869Met) c.5761G>A (p.Val1921Met) c.5968G>A (p.Val1990Met) c.5269G>A (p.Val1757Met) c.6016G>A (p.Val2006Met) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.3729026C>A | CA394554565 | CREBBP | c.6021G>T (p.Gln2007His) c.5907G>T (p.Gln1969His) c.5976G>T (p.Gln1992His) c.5604G>T (p.Gln1868His) c.5760G>T (p.Gln1920His) c.5967G>T (p.Gln1989His) c.5268G>T (p.Gln1756His) c.6015G>T (p.Gln2005His) | dbSNP gnomAD v4 |
16 | g.3729026C= | CA2202916171 | CREBBP | c.6021G= (p.Gln2007=) c.5907G= (p.Gln1969=) c.5976G= (p.Gln1992=) c.5604G= (p.Gln1868=) c.5760G= (p.Gln1920=) c.5967G= (p.Gln1989=) c.5268G= (p.Gln1756=) c.6015G= (p.Gln2005=) | |
16 | g.3729026C>G | CA394554566 | CREBBP | c.6021G>C (p.Gln2007His) c.5907G>C (p.Gln1969His) c.5976G>C (p.Gln1992His) c.5604G>C (p.Gln1868His) c.5760G>C (p.Gln1920His) c.5967G>C (p.Gln1989His) c.5268G>C (p.Gln1756His) c.6015G>C (p.Gln2005His) | dbSNP |
16 | g.3729026C>T | CA493394174 | CREBBP | c.6021G>A (p.Gln2007=) c.5907G>A (p.Gln1969=) c.5976G>A (p.Gln1992=) c.5604G>A (p.Gln1868=) c.5760G>A (p.Gln1920=) c.5967G>A (p.Gln1989=) c.5268G>A (p.Gln1756=) c.6015G>A (p.Gln2005=) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.3729027T>A | CA394554570 | CREBBP | c.6020A>T (p.Gln2007Leu) c.5906A>T (p.Gln1969Leu) c.5975A>T (p.Gln1992Leu) c.5603A>T (p.Gln1868Leu) c.5759A>T (p.Gln1920Leu) c.5966A>T (p.Gln1989Leu) c.5267A>T (p.Gln1756Leu) c.6014A>T (p.Gln2005Leu) | |
16 | g.3729027T>C | CA394554573 | CREBBP | c.6020A>G (p.Gln2007Arg) c.5906A>G (p.Gln1969Arg) c.5975A>G (p.Gln1992Arg) c.5603A>G (p.Gln1868Arg) c.5759A>G (p.Gln1920Arg) c.5966A>G (p.Gln1989Arg) c.5267A>G (p.Gln1756Arg) c.6014A>G (p.Gln2005Arg) | |
16 | g.3729027T>G | CA394554572 | CREBBP | c.6020A>C (p.Gln2007Pro) c.5906A>C (p.Gln1969Pro) c.5975A>C (p.Gln1992Pro) c.5603A>C (p.Gln1868Pro) c.5759A>C (p.Gln1920Pro) c.5966A>C (p.Gln1989Pro) c.5267A>C (p.Gln1756Pro) c.6014A>C (p.Gln2005Pro) | |
16 | g.3729028G>A | CA394554575 | CREBBP | c.6019C>T (p.Gln2007Ter) c.5905C>T (p.Gln1969Ter) c.5974C>T (p.Gln1992Ter) c.5602C>T (p.Gln1868Ter) c.5758C>T (p.Gln1920Ter) c.5965C>T (p.Gln1989Ter) c.5266C>T (p.Gln1756Ter) c.6013C>T (p.Gln2005Ter) | dbSNP gnomAD v4 |
16 | g.3729028G>C | CA394554579 | CREBBP | c.6019C>G (p.Gln2007Glu) c.5905C>G (p.Gln1969Glu) c.5974C>G (p.Gln1992Glu) c.5602C>G (p.Gln1868Glu) c.5758C>G (p.Gln1920Glu) c.5965C>G (p.Gln1989Glu) c.5266C>G (p.Gln1756Glu) c.6013C>G (p.Gln2005Glu) | dbSNP |
16 | g.3729028G>T | CA394554577 | CREBBP | c.6019C>A (p.Gln2007Lys) c.5905C>A (p.Gln1969Lys) c.5974C>A (p.Gln1992Lys) c.5602C>A (p.Gln1868Lys) c.5758C>A (p.Gln1920Lys) c.5965C>A (p.Gln1989Lys) c.5266C>A (p.Gln1756Lys) c.6013C>A (p.Gln2005Lys) | gnomAD v4 |
16 | g.3729029G>A | CA493394178 | CREBBP | c.6018C>T (p.Asn2006=) c.5904C>T (p.Asn1968=) c.5973C>T (p.Asn1991=) c.5601C>T (p.Asn1867=) c.5757C>T (p.Asn1919=) c.5964C>T (p.Asn1988=) c.5265C>T (p.Asn1755=) c.6012C>T (p.Asn2004=) | dbSNP |
16 | g.3729029G>C | CA394554581 | CREBBP | c.6018C>G (p.Asn2006Lys) c.5904C>G (p.Asn1968Lys) c.5973C>G (p.Asn1991Lys) c.5601C>G (p.Asn1867Lys) c.5757C>G (p.Asn1919Lys) c.5964C>G (p.Asn1988Lys) c.5265C>G (p.Asn1755Lys) c.6012C>G (p.Asn2004Lys) | dbSNP |
16 | g.3729029G>T | CA394554582 | CREBBP | c.6018C>A (p.Asn2006Lys) c.5904C>A (p.Asn1968Lys) c.5973C>A (p.Asn1991Lys) c.5601C>A (p.Asn1867Lys) c.5757C>A (p.Asn1919Lys) c.5964C>A (p.Asn1988Lys) c.5265C>A (p.Asn1755Lys) c.6012C>A (p.Asn2004Lys) | dbSNP gnomAD v4 |
16 | g.3729030T>A | CA394554586 | CREBBP | c.6017A>T (p.Asn2006Ile) c.5903A>T (p.Asn1968Ile) c.5972A>T (p.Asn1991Ile) c.5600A>T (p.Asn1867Ile) c.5756A>T (p.Asn1919Ile) c.5963A>T (p.Asn1988Ile) c.5264A>T (p.Asn1755Ile) c.6011A>T (p.Asn2004Ile) | dbSNP |
16 | g.3729030T>C | CA394554587 | CREBBP | c.6017A>G (p.Asn2006Ser) c.5903A>G (p.Asn1968Ser) c.5972A>G (p.Asn1991Ser) c.5600A>G (p.Asn1867Ser) c.5756A>G (p.Asn1919Ser) c.5963A>G (p.Asn1988Ser) c.5264A>G (p.Asn1755Ser) c.6011A>G (p.Asn2004Ser) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.3729030T>G | CA394554589 | CREBBP | c.6017A>C (p.Asn2006Thr) c.5903A>C (p.Asn1968Thr) c.5972A>C (p.Asn1991Thr) c.5600A>C (p.Asn1867Thr) c.5756A>C (p.Asn1919Thr) c.5963A>C (p.Asn1988Thr) c.5264A>C (p.Asn1755Thr) c.6011A>C (p.Asn2004Thr) | dbSNP |
16 | g.3729030T= | CA2202916172 | CREBBP | c.6017A= (p.Asn2006=) c.5903A= (p.Asn1968=) c.5972A= (p.Asn1991=) c.5600A= (p.Asn1867=) c.5756A= (p.Asn1919=) c.5963A= (p.Asn1988=) c.5264A= (p.Asn1755=) c.6011A= (p.Asn2004=) | |
16 | g.3729031T>A | CA394554591 | CREBBP | c.6016A>T (p.Asn2006Tyr) c.5902A>T (p.Asn1968Tyr) c.5971A>T (p.Asn1991Tyr) c.5599A>T (p.Asn1867Tyr) c.5755A>T (p.Asn1919Tyr) c.5962A>T (p.Asn1988Tyr) c.5263A>T (p.Asn1755Tyr) c.6010A>T (p.Asn2004Tyr) | dbSNP |
16 | g.3729031T>C | CA394554593 | CREBBP | c.6016A>G (p.Asn2006Asp) c.5902A>G (p.Asn1968Asp) c.5971A>G (p.Asn1991Asp) c.5599A>G (p.Asn1867Asp) c.5755A>G (p.Asn1919Asp) c.5962A>G (p.Asn1988Asp) c.5263A>G (p.Asn1755Asp) c.6010A>G (p.Asn2004Asp) | |
16 | g.3729031T>G | CA394554595 | CREBBP | c.6016A>C (p.Asn2006His) c.5902A>C (p.Asn1968His) c.5971A>C (p.Asn1991His) c.5599A>C (p.Asn1867His) c.5755A>C (p.Asn1919His) c.5962A>C (p.Asn1988His) c.5263A>C (p.Asn1755His) c.6010A>C (p.Asn2004His) | dbSNP |
16 | g.3729032G>A | CA493394180 | CREBBP | c.6015C>T (p.Pro2005=) c.5901C>T (p.Pro1967=) c.5970C>T (p.Pro1990=) c.5598C>T (p.Pro1866=) c.5754C>T (p.Pro1918=) c.5961C>T (p.Pro1987=) c.5262C>T (p.Pro1754=) c.6009C>T (p.Pro2003=) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.3729032G>C | CA493394181 | CREBBP | c.6015C>G (p.Pro2005=) c.5901C>G (p.Pro1967=) c.5970C>G (p.Pro1990=) c.5598C>G (p.Pro1866=) c.5754C>G (p.Pro1918=) c.5961C>G (p.Pro1987=) c.5262C>G (p.Pro1754=) c.6009C>G (p.Pro2003=) | |
16 | g.3729032G= | CA2202916173 | CREBBP | c.6015C= (p.Pro2005=) c.5901C= (p.Pro1967=) c.5970C= (p.Pro1990=) c.5598C= (p.Pro1866=) c.5754C= (p.Pro1918=) c.5961C= (p.Pro1987=) c.5262C= (p.Pro1754=) c.6009C= (p.Pro2003=) | |
16 | g.3729032G>T | CA493394182 | CREBBP | c.6015C>A (p.Pro2005=) c.5901C>A (p.Pro1967=) c.5970C>A (p.Pro1990=) c.5598C>A (p.Pro1866=) c.5754C>A (p.Pro1918=) c.5961C>A (p.Pro1987=) c.5262C>A (p.Pro1754=) c.6009C>A (p.Pro2003=) | gnomAD v4 |
16 | g.3729033G>A | CA394554598 | CREBBP | c.6014C>T (p.Pro2005Leu) c.5900C>T (p.Pro1967Leu) c.5969C>T (p.Pro1990Leu) c.5597C>T (p.Pro1866Leu) c.5753C>T (p.Pro1918Leu) c.5960C>T (p.Pro1987Leu) c.5261C>T (p.Pro1754Leu) c.6008C>T (p.Pro2003Leu) | dbSNP gnomAD v4 |
16 | g.3729033G>C | CA394554600 | CREBBP | c.6014C>G (p.Pro2005Arg) c.5900C>G (p.Pro1967Arg) c.5969C>G (p.Pro1990Arg) c.5597C>G (p.Pro1866Arg) c.5753C>G (p.Pro1918Arg) c.5960C>G (p.Pro1987Arg) c.5261C>G (p.Pro1754Arg) c.6008C>G (p.Pro2003Arg) | ClinVar dbSNP |
16 | g.3729033G>T | CA394554603 | CREBBP | c.6014C>A (p.Pro2005His) c.5900C>A (p.Pro1967His) c.5969C>A (p.Pro1990His) c.5597C>A (p.Pro1866His) c.5753C>A (p.Pro1918His) c.5960C>A (p.Pro1987His) c.5261C>A (p.Pro1754His) c.6008C>A (p.Pro2003His) | gnomAD v4 |
16 | g.3729034G>A | CA394554605 | CREBBP | c.6013C>T (p.Pro2005Ser) c.5899C>T (p.Pro1967Ser) c.5968C>T (p.Pro1990Ser) c.5596C>T (p.Pro1866Ser) c.5752C>T (p.Pro1918Ser) c.5959C>T (p.Pro1987Ser) c.5260C>T (p.Pro1754Ser) c.6007C>T (p.Pro2003Ser) | ClinVar dbSNP |
16 | g.3729034G>C | CA394554607 | CREBBP | c.6013C>G (p.Pro2005Ala) c.5899C>G (p.Pro1967Ala) c.5968C>G (p.Pro1990Ala) c.5596C>G (p.Pro1866Ala) c.5752C>G (p.Pro1918Ala) c.5959C>G (p.Pro1987Ala) c.5260C>G (p.Pro1754Ala) c.6007C>G (p.Pro2003Ala) | dbSNP |
16 | g.3729034G>T | CA394554608 | CREBBP | c.6013C>A (p.Pro2005Thr) c.5899C>A (p.Pro1967Thr) c.5968C>A (p.Pro1990Thr) c.5596C>A (p.Pro1866Thr) c.5752C>A (p.Pro1918Thr) c.5959C>A (p.Pro1987Thr) c.5260C>A (p.Pro1754Thr) c.6007C>A (p.Pro2003Thr) | ClinVar gnomAD v4 |
16 | g.3729035T>A | CA493394184 | CREBBP | c.6012A>T (p.Arg2004=) c.5898A>T (p.Arg1966=) c.5967A>T (p.Arg1989=) c.5595A>T (p.Arg1865=) c.5751A>T (p.Arg1917=) c.5958A>T (p.Arg1986=) c.5259A>T (p.Arg1753=) c.6006A>T (p.Arg2002=) | dbSNP COSMIC |
16 | g.3729035T>C | CA493394185 | CREBBP | c.6012A>G (p.Arg2004=) c.5898A>G (p.Arg1966=) c.5967A>G (p.Arg1989=) c.5595A>G (p.Arg1865=) c.5751A>G (p.Arg1917=) c.5958A>G (p.Arg1986=) c.5259A>G (p.Arg1753=) c.6006A>G (p.Arg2002=) | dbSNP gnomAD v4 |
16 | g.3729035T>G | CA493394186 | CREBBP | c.6012A>C (p.Arg2004=) c.5898A>C (p.Arg1966=) c.5967A>C (p.Arg1989=) c.5595A>C (p.Arg1865=) c.5751A>C (p.Arg1917=) c.5958A>C (p.Arg1986=) c.5259A>C (p.Arg1753=) c.6006A>C (p.Arg2002=) | dbSNP |
16 | g.3729035T= | CA2202916174 | CREBBP | c.6012A= (p.Arg2004=) c.5898A= (p.Arg1966=) c.5967A= (p.Arg1989=) c.5595A= (p.Arg1865=) c.5751A= (p.Arg1917=) c.5958A= (p.Arg1986=) c.5259A= (p.Arg1753=) c.6006A= (p.Arg2002=) | |
16 | g.3729036C>A | CA394554614 | CREBBP | c.6011G>T (p.Arg2004Leu) c.5897G>T (p.Arg1966Leu) c.5966G>T (p.Arg1989Leu) c.5594G>T (p.Arg1865Leu) c.5750G>T (p.Arg1917Leu) c.5957G>T (p.Arg1986Leu) c.5258G>T (p.Arg1753Leu) c.6005G>T (p.Arg2002Leu) | dbSNP gnomAD v4 |
16 | g.3729036C= | CA2202916175 | CREBBP | c.6011G= (p.Arg2004=) c.5897G= (p.Arg1966=) c.5966G= (p.Arg1989=) c.5594G= (p.Arg1865=) c.5750G= (p.Arg1917=) c.5957G= (p.Arg1986=) c.5258G= (p.Arg1753=) c.6005G= (p.Arg2002=) | |
16 | g.3729036C>G | CA394554610 | CREBBP | c.6011G>C (p.Arg2004Pro) c.5897G>C (p.Arg1966Pro) c.5966G>C (p.Arg1989Pro) c.5594G>C (p.Arg1865Pro) c.5750G>C (p.Arg1917Pro) c.5957G>C (p.Arg1986Pro) c.5258G>C (p.Arg1753Pro) c.6005G>C (p.Arg2002Pro) | |
16 | g.3729036C>T | CA394554612 | CREBBP | c.6011G>A (p.Arg2004Gln) c.5897G>A (p.Arg1966Gln) c.5966G>A (p.Arg1989Gln) c.5594G>A (p.Arg1865Gln) c.5750G>A (p.Arg1917Gln) c.5957G>A (p.Arg1986Gln) c.5258G>A (p.Arg1753Gln) c.6005G>A (p.Arg2002Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3729037G>A | CA10588617 | CREBBP | c.6010C>T (p.Arg2004Ter) c.5896C>T (p.Arg1966Ter) c.5965C>T (p.Arg1989Ter) c.5593C>T (p.Arg1865Ter) c.5749C>T (p.Arg1917Ter) c.5956C>T (p.Arg1986Ter) c.5257C>T (p.Arg1753Ter) c.6004C>T (p.Arg2002Ter) | ClinVar dbSNP gnomAD v4 |
16 | g.3729037G>C | CA394554617 | CREBBP | c.6010C>G (p.Arg2004Gly) c.5896C>G (p.Arg1966Gly) c.5965C>G (p.Arg1989Gly) c.5593C>G (p.Arg1865Gly) c.5749C>G (p.Arg1917Gly) c.5956C>G (p.Arg1986Gly) c.5257C>G (p.Arg1753Gly) c.6004C>G (p.Arg2002Gly) | |
16 | g.3729037G= | CA2202916176 | CREBBP | c.6010C= (p.Arg2004=) c.5896C= (p.Arg1966=) c.5965C= (p.Arg1989=) c.5593C= (p.Arg1865=) c.5749C= (p.Arg1917=) c.5956C= (p.Arg1986=) c.5257C= (p.Arg1753=) c.6004C= (p.Arg2002=) | |
16 | g.3729037G>T | CA493394187 | CREBBP | c.6010C>A (p.Arg2004=) c.5896C>A (p.Arg1966=) c.5965C>A (p.Arg1989=) c.5593C>A (p.Arg1865=) c.5749C>A (p.Arg1917=) c.5956C>A (p.Arg1986=) c.5257C>A (p.Arg1753=) c.6004C>A (p.Arg2002=) | gnomAD v4 |
16 | g.3729038G>A | CA493394188 | CREBBP | c.6009C>T (p.Pro2003=) c.5895C>T (p.Pro1965=) c.5964C>T (p.Pro1988=) c.5592C>T (p.Pro1864=) c.5748C>T (p.Pro1916=) c.5955C>T (p.Pro1985=) c.5256C>T (p.Pro1752=) c.6003C>T (p.Pro2001=) | dbSNP gnomAD v4 |
16 | g.3729038G>C | CA493394189 | CREBBP | c.6009C>G (p.Pro2003=) c.5895C>G (p.Pro1965=) c.5964C>G (p.Pro1988=) c.5592C>G (p.Pro1864=) c.5748C>G (p.Pro1916=) c.5955C>G (p.Pro1985=) c.5256C>G (p.Pro1752=) c.6003C>G (p.Pro2001=) | dbSNP gnomAD v2 |
16 | g.3729038G= | CA2202916177 | CREBBP | c.6009C= (p.Pro2003=) c.5895C= (p.Pro1965=) c.5964C= (p.Pro1988=) c.5592C= (p.Pro1864=) c.5748C= (p.Pro1916=) c.5955C= (p.Pro1985=) c.5256C= (p.Pro1752=) c.6003C= (p.Pro2001=) | |
16 | g.3729038G>T | CA493394190 | CREBBP | c.6009C>A (p.Pro2003=) c.5895C>A (p.Pro1965=) c.5964C>A (p.Pro1988=) c.5592C>A (p.Pro1864=) c.5748C>A (p.Pro1916=) c.5955C>A (p.Pro1985=) c.5256C>A (p.Pro1752=) c.6003C>A (p.Pro2001=) | dbSNP gnomAD v4 |
16 | g.3729039G>A | CA394554619 | CREBBP | c.6008C>T (p.Pro2003Leu) c.5894C>T (p.Pro1965Leu) c.5963C>T (p.Pro1988Leu) c.5591C>T (p.Pro1864Leu) c.5747C>T (p.Pro1916Leu) c.5954C>T (p.Pro1985Leu) c.5255C>T (p.Pro1752Leu) c.6002C>T (p.Pro2001Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3729039G>C | CA394554621 | CREBBP | c.6008C>G (p.Pro2003Arg) c.5894C>G (p.Pro1965Arg) c.5963C>G (p.Pro1988Arg) c.5591C>G (p.Pro1864Arg) c.5747C>G (p.Pro1916Arg) c.5954C>G (p.Pro1985Arg) c.5255C>G (p.Pro1752Arg) c.6002C>G (p.Pro2001Arg) | |
16 | g.3729039G= | CA2202916178 | CREBBP | c.6008C= (p.Pro2003=) c.5894C= (p.Pro1965=) c.5963C= (p.Pro1988=) c.5591C= (p.Pro1864=) c.5747C= (p.Pro1916=) c.5954C= (p.Pro1985=) c.5255C= (p.Pro1752=) c.6002C= (p.Pro2001=) | |
16 | g.3729039G>T | CA394554623 | CREBBP | c.6008C>A (p.Pro2003His) c.5894C>A (p.Pro1965His) c.5963C>A (p.Pro1988His) c.5591C>A (p.Pro1864His) c.5747C>A (p.Pro1916His) c.5954C>A (p.Pro1985His) c.5255C>A (p.Pro1752His) c.6002C>A (p.Pro2001His) | dbSNP gnomAD v4 |
16 | g.3729040G>A | CA394554626 | CREBBP | c.6007C>T (p.Pro2003Ser) c.5893C>T (p.Pro1965Ser) c.5962C>T (p.Pro1988Ser) c.5590C>T (p.Pro1864Ser) c.5746C>T (p.Pro1916Ser) c.5953C>T (p.Pro1985Ser) c.5254C>T (p.Pro1752Ser) c.6001C>T (p.Pro2001Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.3729040G>C | CA394554628 | CREBBP | c.6007C>G (p.Pro2003Ala) c.5893C>G (p.Pro1965Ala) c.5962C>G (p.Pro1988Ala) c.5590C>G (p.Pro1864Ala) c.5746C>G (p.Pro1916Ala) c.5953C>G (p.Pro1985Ala) c.5254C>G (p.Pro1752Ala) c.6001C>G (p.Pro2001Ala) | dbSNP |
16 | g.3729040G= | CA2202916179 | CREBBP | c.6007C= (p.Pro2003=) c.5893C= (p.Pro1965=) c.5962C= (p.Pro1988=) c.5590C= (p.Pro1864=) c.5746C= (p.Pro1916=) c.5953C= (p.Pro1985=) c.5254C= (p.Pro1752=) c.6001C= (p.Pro2001=) | |
16 | g.3729040G>T | CA394554631 | CREBBP | c.6007C>A (p.Pro2003Thr) c.5893C>A (p.Pro1965Thr) c.5962C>A (p.Pro1988Thr) c.5590C>A (p.Pro1864Thr) c.5746C>A (p.Pro1916Thr) c.5953C>A (p.Pro1985Thr) c.5254C>A (p.Pro1752Thr) c.6001C>A (p.Pro2001Thr) | dbSNP gnomAD v4 |
16 | g.3729041C>A | CA7869200 | CREBBP | c.6006G>T (p.Val2002=) c.5892G>T (p.Val1964=) c.5961G>T (p.Val1987=) c.5589G>T (p.Val1863=) c.5745G>T (p.Val1915=) c.5952G>T (p.Val1984=) c.5253G>T (p.Val1751=) c.6000G>T (p.Val2000=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3729041C= | CA2202916180 | CREBBP | c.6006G= (p.Val2002=) c.5892G= (p.Val1964=) c.5961G= (p.Val1987=) c.5589G= (p.Val1863=) c.5745G= (p.Val1915=) c.5952G= (p.Val1984=) c.5253G= (p.Val1751=) c.6000G= (p.Val2000=) | |
16 | g.3729041C>G | CA493394194 | CREBBP | c.6006G>C (p.Val2002=) c.5892G>C (p.Val1964=) c.5961G>C (p.Val1987=) c.5589G>C (p.Val1863=) c.5745G>C (p.Val1915=) c.5952G>C (p.Val1984=) c.5253G>C (p.Val1751=) c.6000G>C (p.Val2000=) | |
16 | g.3729041C>T | CA493394195 | CREBBP | c.6006G>A (p.Val2002=) c.5892G>A (p.Val1964=) c.5961G>A (p.Val1987=) c.5589G>A (p.Val1863=) c.5745G>A (p.Val1915=) c.5952G>A (p.Val1984=) c.5253G>A (p.Val1751=) c.6000G>A (p.Val2000=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3729043_3729044del | CA2573102957 | CREBBP | c.6005_6006del (p.Val2002AlafsTer?) c.5891_5892del (p.Val1964AlafsTer?) c.5960_5961del (p.Val1987AlafsTer?) c.5588_5589del (p.Val1863AlafsTer?) c.5744_5745del (p.Val1915AlafsTer?) c.5951_5952del (p.Val1984AlafsTer?) c.5252_5253del (p.Val1751AlafsTer?) c.5999_6000del (p.Val2000AlafsTer?) | ClinVar |
16 | g.3729042A= | CA2202916181 | CREBBP | c.6005T= (p.Val2002=) c.5891T= (p.Val1964=) c.5960T= (p.Val1987=) c.5588T= (p.Val1863=) c.5744T= (p.Val1915=) c.5951T= (p.Val1984=) c.5252T= (p.Val1751=) c.5999T= (p.Val2000=) | |
16 | g.3729042A>C | CA394554635 | CREBBP | c.6005T>G (p.Val2002Gly) c.5891T>G (p.Val1964Gly) c.5960T>G (p.Val1987Gly) c.5588T>G (p.Val1863Gly) c.5744T>G (p.Val1915Gly) c.5951T>G (p.Val1984Gly) c.5252T>G (p.Val1751Gly) c.5999T>G (p.Val2000Gly) | dbSNP |
16 | g.3729042A>G | CA394554636 | CREBBP | c.6005T>C (p.Val2002Ala) c.5891T>C (p.Val1964Ala) c.5960T>C (p.Val1987Ala) c.5588T>C (p.Val1863Ala) c.5744T>C (p.Val1915Ala) c.5951T>C (p.Val1984Ala) c.5252T>C (p.Val1751Ala) c.5999T>C (p.Val2000Ala) | dbSNP |
16 | g.3729042A>T | CA394554638 | CREBBP | c.6005T>A (p.Val2002Glu) c.5891T>A (p.Val1964Glu) c.5960T>A (p.Val1987Glu) c.5588T>A (p.Val1863Glu) c.5744T>A (p.Val1915Glu) c.5951T>A (p.Val1984Glu) c.5252T>A (p.Val1751Glu) c.5999T>A (p.Val2000Glu) | dbSNP gnomAD v4 |
16 | g.3729043C>A | CA394554643 | CREBBP | c.6004G>T (p.Val2002Leu) c.5890G>T (p.Val1964Leu) c.5959G>T (p.Val1987Leu) c.5587G>T (p.Val1863Leu) c.5743G>T (p.Val1915Leu) c.5950G>T (p.Val1984Leu) c.5251G>T (p.Val1751Leu) c.5998G>T (p.Val2000Leu) | |
16 | g.3729043C= | CA2202916182 | CREBBP | c.6004G= (p.Val2002=) c.5890G= (p.Val1964=) c.5959G= (p.Val1987=) c.5587G= (p.Val1863=) c.5743G= (p.Val1915=) c.5950G= (p.Val1984=) c.5251G= (p.Val1751=) c.5998G= (p.Val2000=) | |
16 | g.3729043C>G | CA394554642 | CREBBP | c.6004G>C (p.Val2002Leu) c.5890G>C (p.Val1964Leu) c.5959G>C (p.Val1987Leu) c.5587G>C (p.Val1863Leu) c.5743G>C (p.Val1915Leu) c.5950G>C (p.Val1984Leu) c.5251G>C (p.Val1751Leu) c.5998G>C (p.Val2000Leu) | |
16 | g.3729043C>T | CA394554640 | CREBBP | c.6004G>A (p.Val2002Met) c.5890G>A (p.Val1964Met) c.5959G>A (p.Val1987Met) c.5587G>A (p.Val1863Met) c.5743G>A (p.Val1915Met) c.5950G>A (p.Val1984Met) c.5251G>A (p.Val1751Met) c.5998G>A (p.Val2000Met) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3729044A= | CA2202916183 | CREBBP | c.6003T= (p.Asn2001=) c.5889T= (p.Asn1963=) c.5958T= (p.Asn1986=) c.5586T= (p.Asn1862=) c.5742T= (p.Asn1914=) c.5949T= (p.Asn1983=) c.5250T= (p.Asn1750=) c.5997T= (p.Asn1999=) | |
16 | g.3729044A>C | CA394554648 | CREBBP | c.6003T>G (p.Asn2001Lys) c.5889T>G (p.Asn1963Lys) c.5958T>G (p.Asn1986Lys) c.5586T>G (p.Asn1862Lys) c.5742T>G (p.Asn1914Lys) c.5949T>G (p.Asn1983Lys) c.5250T>G (p.Asn1750Lys) c.5997T>G (p.Asn1999Lys) | dbSNP |
16 | g.3729044A>G | CA148136 | CREBBP | c.6003T>C (p.Asn2001=) c.5889T>C (p.Asn1963=) c.5958T>C (p.Asn1986=) c.5586T>C (p.Asn1862=) c.5742T>C (p.Asn1914=) c.5949T>C (p.Asn1983=) c.5250T>C (p.Asn1750=) c.5997T>C (p.Asn1999=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3729044A>T | CA394554646 | CREBBP | c.6003T>A (p.Asn2001Lys) c.5889T>A (p.Asn1963Lys) c.5958T>A (p.Asn1986Lys) c.5586T>A (p.Asn1862Lys) c.5742T>A (p.Asn1914Lys) c.5949T>A (p.Asn1983Lys) c.5250T>A (p.Asn1750Lys) c.5997T>A (p.Asn1999Lys) | dbSNP |
16 | g.3729045T>A | CA394554650 | CREBBP | c.6002A>T (p.Asn2001Ile) c.5888A>T (p.Asn1963Ile) c.5957A>T (p.Asn1986Ile) c.5585A>T (p.Asn1862Ile) c.5741A>T (p.Asn1914Ile) c.5948A>T (p.Asn1983Ile) c.5249A>T (p.Asn1750Ile) c.5996A>T (p.Asn1999Ile) | |
16 | g.3729045T>C | CA394554652 | CREBBP | c.6002A>G (p.Asn2001Ser) c.5888A>G (p.Asn1963Ser) c.5957A>G (p.Asn1986Ser) c.5585A>G (p.Asn1862Ser) c.5741A>G (p.Asn1914Ser) c.5948A>G (p.Asn1983Ser) c.5249A>G (p.Asn1750Ser) c.5996A>G (p.Asn1999Ser) | dbSNP |
16 | g.3729045T>G | CA394554654 | CREBBP | c.6002A>C (p.Asn2001Thr) c.5888A>C (p.Asn1963Thr) c.5957A>C (p.Asn1986Thr) c.5585A>C (p.Asn1862Thr) c.5741A>C (p.Asn1914Thr) c.5948A>C (p.Asn1983Thr) c.5249A>C (p.Asn1750Thr) c.5996A>C (p.Asn1999Thr) | |
16 | g.3729046T>A | CA394554656 | CREBBP | c.6001A>T (p.Asn2001Tyr) c.5887A>T (p.Asn1963Tyr) c.5956A>T (p.Asn1986Tyr) c.5584A>T (p.Asn1862Tyr) c.5740A>T (p.Asn1914Tyr) c.5947A>T (p.Asn1983Tyr) c.5248A>T (p.Asn1750Tyr) c.5995A>T (p.Asn1999Tyr) | dbSNP |
16 | g.3729046T>C | CA394554658 | CREBBP | c.6001A>G (p.Asn2001Asp) c.5887A>G (p.Asn1963Asp) c.5956A>G (p.Asn1986Asp) c.5584A>G (p.Asn1862Asp) c.5740A>G (p.Asn1914Asp) c.5947A>G (p.Asn1983Asp) c.5248A>G (p.Asn1750Asp) c.5995A>G (p.Asn1999Asp) | dbSNP gnomAD v4 |
16 | g.3729046T>G | CA394554659 | CREBBP | c.6001A>C (p.Asn2001His) c.5887A>C (p.Asn1963His) c.5956A>C (p.Asn1986His) c.5584A>C (p.Asn1862His) c.5740A>C (p.Asn1914His) c.5947A>C (p.Asn1983His) c.5248A>C (p.Asn1750His) c.5995A>C (p.Asn1999His) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.3729046T= | CA2202916184 | CREBBP | c.6001A= (p.Asn2001=) c.5887A= (p.Asn1963=) c.5956A= (p.Asn1986=) c.5584A= (p.Asn1862=) c.5740A= (p.Asn1914=) c.5947A= (p.Asn1983=) c.5248A= (p.Asn1750=) c.5995A= (p.Asn1999=) | |
16 | g.3729047C>A | CA493394204 | CREBBP | c.6000G>T (p.Leu2000=) c.5886G>T (p.Leu1962=) c.5955G>T (p.Leu1985=) c.5583G>T (p.Leu1861=) c.5739G>T (p.Leu1913=) c.5946G>T (p.Leu1982=) c.5247G>T (p.Leu1749=) c.5994G>T (p.Leu1998=) | dbSNP gnomAD v4 |
16 | g.3729047C= | CA2202916185 | CREBBP | c.6000G= (p.Leu2000=) c.5886G= (p.Leu1962=) c.5955G= (p.Leu1985=) c.5583G= (p.Leu1861=) c.5739G= (p.Leu1913=) c.5946G= (p.Leu1982=) c.5247G= (p.Leu1749=) c.5994G= (p.Leu1998=) | |
16 | g.3729047C>G | CA493394207 | CREBBP | c.6000G>C (p.Leu2000=) c.5886G>C (p.Leu1962=) c.5955G>C (p.Leu1985=) c.5583G>C (p.Leu1861=) c.5739G>C (p.Leu1913=) c.5946G>C (p.Leu1982=) c.5247G>C (p.Leu1749=) c.5994G>C (p.Leu1998=) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.3729047C>T | CA493394205 | CREBBP | c.6000G>A (p.Leu2000=) c.5886G>A (p.Leu1962=) c.5955G>A (p.Leu1985=) c.5583G>A (p.Leu1861=) c.5739G>A (p.Leu1913=) c.5946G>A (p.Leu1982=) c.5247G>A (p.Leu1749=) c.5994G>A (p.Leu1998=) | dbSNP gnomAD v4 |
16 | g.3729048A>C | CA394554662 | CREBBP | c.5999T>G (p.Leu2000Arg) c.5885T>G (p.Leu1962Arg) c.5954T>G (p.Leu1985Arg) c.5582T>G (p.Leu1861Arg) c.5738T>G (p.Leu1913Arg) c.5945T>G (p.Leu1982Arg) c.5246T>G (p.Leu1749Arg) c.5993T>G (p.Leu1998Arg) | |
16 | g.3729048A>G | CA394554664 | CREBBP | c.5999T>C (p.Leu2000Pro) c.5885T>C (p.Leu1962Pro) c.5954T>C (p.Leu1985Pro) c.5582T>C (p.Leu1861Pro) c.5738T>C (p.Leu1913Pro) c.5945T>C (p.Leu1982Pro) c.5246T>C (p.Leu1749Pro) c.5993T>C (p.Leu1998Pro) | gnomAD v4 |
16 | g.3729048A>T | CA394554665 | CREBBP | c.5999T>A (p.Leu2000Gln) c.5885T>A (p.Leu1962Gln) c.5954T>A (p.Leu1985Gln) c.5582T>A (p.Leu1861Gln) c.5738T>A (p.Leu1913Gln) c.5945T>A (p.Leu1982Gln) c.5246T>A (p.Leu1749Gln) c.5993T>A (p.Leu1998Gln) | |
16 | g.3729049G>A | CA493394208 | CREBBP | c.5998C>T (p.Leu2000=) c.5884C>T (p.Leu1962=) c.5953C>T (p.Leu1985=) c.5581C>T (p.Leu1861=) c.5737C>T (p.Leu1913=) c.5944C>T (p.Leu1982=) c.5245C>T (p.Leu1749=) c.5992C>T (p.Leu1998=) | dbSNP gnomAD v2 |
16 | g.3729049G>C | CA394554668 | CREBBP | c.5998C>G (p.Leu2000Val) c.5884C>G (p.Leu1962Val) c.5953C>G (p.Leu1985Val) c.5581C>G (p.Leu1861Val) c.5737C>G (p.Leu1913Val) c.5944C>G (p.Leu1982Val) c.5245C>G (p.Leu1749Val) c.5992C>G (p.Leu1998Val) | dbSNP |
16 | g.3729049G= | CA2202916186 | CREBBP | c.5998C= (p.Leu2000=) c.5884C= (p.Leu1962=) c.5953C= (p.Leu1985=) c.5581C= (p.Leu1861=) c.5737C= (p.Leu1913=) c.5944C= (p.Leu1982=) c.5245C= (p.Leu1749=) c.5992C= (p.Leu1998=) | |
16 | g.3729049G>T | CA394554670 | CREBBP | c.5998C>A (p.Leu2000Met) c.5884C>A (p.Leu1962Met) c.5953C>A (p.Leu1985Met) c.5581C>A (p.Leu1861Met) c.5737C>A (p.Leu1913Met) c.5944C>A (p.Leu1982Met) c.5245C>A (p.Leu1749Met) c.5992C>A (p.Leu1998Met) | dbSNP gnomAD v4 |
16 | g.3729050G>A | CA493394209 | CREBBP | c.5997C>T (p.Ser1999=) c.5883C>T (p.Ser1961=) c.5952C>T (p.Ser1984=) c.5580C>T (p.Ser1860=) c.5736C>T (p.Ser1912=) c.5943C>T (p.Ser1981=) c.5244C>T (p.Ser1748=) c.5991C>T (p.Ser1997=) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.3729050G>C | CA394554674 | CREBBP | c.5997C>G (p.Ser1999Arg) c.5883C>G (p.Ser1961Arg) c.5952C>G (p.Ser1984Arg) c.5580C>G (p.Ser1860Arg) c.5736C>G (p.Ser1912Arg) c.5943C>G (p.Ser1981Arg) c.5244C>G (p.Ser1748Arg) c.5991C>G (p.Ser1997Arg) | dbSNP |
16 | g.3729050G= | CA2202916187 | CREBBP | c.5997C= (p.Ser1999=) c.5883C= (p.Ser1961=) c.5952C= (p.Ser1984=) c.5580C= (p.Ser1860=) c.5736C= (p.Ser1912=) c.5943C= (p.Ser1981=) c.5244C= (p.Ser1748=) c.5991C= (p.Ser1997=) | |
16 | g.3729050G>T | CA394554672 | CREBBP | c.5997C>A (p.Ser1999Arg) c.5883C>A (p.Ser1961Arg) c.5952C>A (p.Ser1984Arg) c.5580C>A (p.Ser1860Arg) c.5736C>A (p.Ser1912Arg) c.5943C>A (p.Ser1981Arg) c.5244C>A (p.Ser1748Arg) c.5991C>A (p.Ser1997Arg) | gnomAD v4 |
16 | g.3729051C>A | CA394554676 | CREBBP | c.5996G>T (p.Ser1999Ile) c.5882G>T (p.Ser1961Ile) c.5951G>T (p.Ser1984Ile) c.5579G>T (p.Ser1860Ile) c.5735G>T (p.Ser1912Ile) c.5942G>T (p.Ser1981Ile) c.5243G>T (p.Ser1748Ile) c.5990G>T (p.Ser1997Ile) | dbSNP gnomAD v4 |
16 | g.3729051C= | CA2202916188 | CREBBP | c.5996G= (p.Ser1999=) c.5882G= (p.Ser1961=) c.5951G= (p.Ser1984=) c.5579G= (p.Ser1860=) c.5735G= (p.Ser1912=) c.5942G= (p.Ser1981=) c.5243G= (p.Ser1748=) c.5990G= (p.Ser1997=) | |
16 | g.3729051C>G | CA394554678 | CREBBP | c.5996G>C (p.Ser1999Thr) c.5882G>C (p.Ser1961Thr) c.5951G>C (p.Ser1984Thr) c.5579G>C (p.Ser1860Thr) c.5735G>C (p.Ser1912Thr) c.5942G>C (p.Ser1981Thr) c.5243G>C (p.Ser1748Thr) c.5990G>C (p.Ser1997Thr) | ClinVar dbSNP gnomAD v4 |
16 | g.3729051C>T | CA394554680 | CREBBP | c.5996G>A (p.Ser1999Asn) c.5882G>A (p.Ser1961Asn) c.5951G>A (p.Ser1984Asn) c.5579G>A (p.Ser1860Asn) c.5735G>A (p.Ser1912Asn) c.5942G>A (p.Ser1981Asn) c.5243G>A (p.Ser1748Asn) c.5990G>A (p.Ser1997Asn) | dbSNP |
16 | g.3729052T>A | CA394554682 | CREBBP | c.5995A>T (p.Ser1999Cys) c.5881A>T (p.Ser1961Cys) c.5950A>T (p.Ser1984Cys) c.5578A>T (p.Ser1860Cys) c.5734A>T (p.Ser1912Cys) c.5941A>T (p.Ser1981Cys) c.5242A>T (p.Ser1748Cys) c.5989A>T (p.Ser1997Cys) | dbSNP gnomAD v4 |
16 | g.3729052T>C | CA394554684 | CREBBP | c.5995A>G (p.Ser1999Gly) c.5881A>G (p.Ser1961Gly) c.5950A>G (p.Ser1984Gly) c.5578A>G (p.Ser1860Gly) c.5734A>G (p.Ser1912Gly) c.5941A>G (p.Ser1981Gly) c.5242A>G (p.Ser1748Gly) c.5989A>G (p.Ser1997Gly) | dbSNP gnomAD v4 |
16 | g.3729052T>G | CA394554686 | CREBBP | c.5995A>C (p.Ser1999Arg) c.5881A>C (p.Ser1961Arg) c.5950A>C (p.Ser1984Arg) c.5578A>C (p.Ser1860Arg) c.5734A>C (p.Ser1912Arg) c.5941A>C (p.Ser1981Arg) c.5242A>C (p.Ser1748Arg) c.5989A>C (p.Ser1997Arg) | |
16 | g.3729053C>A | CA493394214 | CREBBP | c.5994G>T (p.Val1998=) c.5880G>T (p.Val1960=) c.5949G>T (p.Val1983=) c.5577G>T (p.Val1859=) c.5733G>T (p.Val1911=) c.5940G>T (p.Val1980=) c.5241G>T (p.Val1747=) c.5988G>T (p.Val1996=) | gnomAD v4 |
16 | g.3729053C>G | CA493394215 | CREBBP | c.5994G>C (p.Val1998=) c.5880G>C (p.Val1960=) c.5949G>C (p.Val1983=) c.5577G>C (p.Val1859=) c.5733G>C (p.Val1911=) c.5940G>C (p.Val1980=) c.5241G>C (p.Val1747=) c.5988G>C (p.Val1996=) | |
16 | g.3729053C>T | CA493394216 | CREBBP | c.5994G>A (p.Val1998=) c.5880G>A (p.Val1960=) c.5949G>A (p.Val1983=) c.5577G>A (p.Val1859=) c.5733G>A (p.Val1911=) c.5940G>A (p.Val1980=) c.5241G>A (p.Val1747=) c.5988G>A (p.Val1996=) | dbSNP gnomAD v4 |
16 | g.3729054A= | CA2202916189 | CREBBP | c.5993T= (p.Val1998=) c.5879T= (p.Val1960=) c.5948T= (p.Val1983=) c.5576T= (p.Val1859=) c.5732T= (p.Val1911=) c.5939T= (p.Val1980=) c.5240T= (p.Val1747=) c.5987T= (p.Val1996=) | |
16 | g.3729054A>C | CA394554688 | CREBBP | c.5993T>G (p.Val1998Gly) c.5879T>G (p.Val1960Gly) c.5948T>G (p.Val1983Gly) c.5576T>G (p.Val1859Gly) c.5732T>G (p.Val1911Gly) c.5939T>G (p.Val1980Gly) c.5240T>G (p.Val1747Gly) c.5987T>G (p.Val1996Gly) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.3729054A>G | CA394554689 | CREBBP | c.5993T>C (p.Val1998Ala) c.5879T>C (p.Val1960Ala) c.5948T>C (p.Val1983Ala) c.5576T>C (p.Val1859Ala) c.5732T>C (p.Val1911Ala) c.5939T>C (p.Val1980Ala) c.5240T>C (p.Val1747Ala) c.5987T>C (p.Val1996Ala) | dbSNP |
16 | g.3729054A>T | CA394554691 | CREBBP | c.5993T>A (p.Val1998Glu) c.5879T>A (p.Val1960Glu) c.5948T>A (p.Val1983Glu) c.5576T>A (p.Val1859Glu) c.5732T>A (p.Val1911Glu) c.5939T>A (p.Val1980Glu) c.5240T>A (p.Val1747Glu) c.5987T>A (p.Val1996Glu) | dbSNP |
16 | g.3729055C>A | CA7869201 | CREBBP | c.5992G>T (p.Val1998Leu) c.5878G>T (p.Val1960Leu) c.5947G>T (p.Val1983Leu) c.5575G>T (p.Val1859Leu) c.5731G>T (p.Val1911Leu) c.5938G>T (p.Val1980Leu) c.5239G>T (p.Val1747Leu) c.5986G>T (p.Val1996Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3729055C= | CA2202916190 | CREBBP | c.5992G= (p.Val1998=) c.5878G= (p.Val1960=) c.5947G= (p.Val1983=) c.5575G= (p.Val1859=) c.5731G= (p.Val1911=) c.5938G= (p.Val1980=) c.5239G= (p.Val1747=) c.5986G= (p.Val1996=) | |
16 | g.3729055C>G | CA394554694 | CREBBP | c.5992G>C (p.Val1998Leu) c.5878G>C (p.Val1960Leu) c.5947G>C (p.Val1983Leu) c.5575G>C (p.Val1859Leu) c.5731G>C (p.Val1911Leu) c.5938G>C (p.Val1980Leu) c.5239G>C (p.Val1747Leu) c.5986G>C (p.Val1996Leu) | dbSNP |
16 | g.3729055C>T | CA7869202 | CREBBP | c.5992G>A (p.Val1998Met) c.5878G>A (p.Val1960Met) c.5947G>A (p.Val1983Met) c.5575G>A (p.Val1859Met) c.5731G>A (p.Val1911Met) c.5938G>A (p.Val1980Met) c.5239G>A (p.Val1747Met) c.5986G>A (p.Val1996Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3729056G>A | CA7869203 | CREBBP | c.5991C>T (p.Pro1997=) c.5877C>T (p.Pro1959=) c.5946C>T (p.Pro1982=) c.5574C>T (p.Pro1858=) c.5730C>T (p.Pro1910=) c.5937C>T (p.Pro1979=) c.5238C>T (p.Pro1746=) c.5985C>T (p.Pro1995=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3729056G>C | CA493394220 | CREBBP | c.5991C>G (p.Pro1997=) c.5877C>G (p.Pro1959=) c.5946C>G (p.Pro1982=) c.5574C>G (p.Pro1858=) c.5730C>G (p.Pro1910=) c.5937C>G (p.Pro1979=) c.5238C>G (p.Pro1746=) c.5985C>G (p.Pro1995=) | ClinVar dbSNP |
16 | g.3729056G= | CA2202916191 | CREBBP | c.5991C= (p.Pro1997=) c.5877C= (p.Pro1959=) c.5946C= (p.Pro1982=) c.5574C= (p.Pro1858=) c.5730C= (p.Pro1910=) c.5937C= (p.Pro1979=) c.5238C= (p.Pro1746=) c.5985C= (p.Pro1995=) | |
16 | g.3729056G>T | CA493394221 | CREBBP | c.5991C>A (p.Pro1997=) c.5877C>A (p.Pro1959=) c.5946C>A (p.Pro1982=) c.5574C>A (p.Pro1858=) c.5730C>A (p.Pro1910=) c.5937C>A (p.Pro1979=) c.5238C>A (p.Pro1746=) c.5985C>A (p.Pro1995=) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.3729060dup | CA2695222621 | CREBBP | c.5991dup (p.Val1998ArgfsTer?) c.5877dup (p.Val1960ArgfsTer?) c.5946dup (p.Val1983ArgfsTer?) c.5574dup (p.Val1859ArgfsTer?) c.5730dup (p.Val1911ArgfsTer?) c.5937dup (p.Val1980ArgfsTer?) c.5238dup (p.Val1747ArgfsTer?) c.5985dup (p.Val1996ArgfsTer?) | |
16 | g.3729060del | CA1139654949 | CREBBP | c.5991del (p.Val1998Ter) c.5877del (p.Val1960Ter) c.5946del (p.Val1983Ter) c.5574del (p.Val1859Ter) c.5730del (p.Val1911Ter) c.5937del (p.Val1980Ter) c.5238del (p.Val1747Ter) c.5985del (p.Val1996Ter) | ClinVar gnomAD v4 |
16 | g.3729057G>A | CA7869204 | CREBBP | c.5990C>T (p.Pro1997Leu) c.5876C>T (p.Pro1959Leu) c.5945C>T (p.Pro1982Leu) c.5573C>T (p.Pro1858Leu) c.5729C>T (p.Pro1910Leu) c.5936C>T (p.Pro1979Leu) c.5237C>T (p.Pro1746Leu) c.5984C>T (p.Pro1995Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.3729057G>C | CA394554700 | CREBBP | c.5990C>G (p.Pro1997Arg) c.5876C>G (p.Pro1959Arg) c.5945C>G (p.Pro1982Arg) c.5573C>G (p.Pro1858Arg) c.5729C>G (p.Pro1910Arg) c.5936C>G (p.Pro1979Arg) c.5237C>G (p.Pro1746Arg) c.5984C>G (p.Pro1995Arg) | |
16 | g.3729057G= | CA2202916192 | CREBBP | c.5990C= (p.Pro1997=) c.5876C= (p.Pro1959=) c.5945C= (p.Pro1982=) c.5573C= (p.Pro1858=) c.5729C= (p.Pro1910=) c.5936C= (p.Pro1979=) c.5237C= (p.Pro1746=) c.5984C= (p.Pro1995=) | |
16 | g.3729057G>T | CA394554697 | CREBBP | c.5990C>A (p.Pro1997His) c.5876C>A (p.Pro1959His) c.5945C>A (p.Pro1982His) c.5573C>A (p.Pro1858His) c.5729C>A (p.Pro1910His) c.5936C>A (p.Pro1979His) c.5237C>A (p.Pro1746His) c.5984C>A (p.Pro1995His) | gnomAD v4 |
16 | g.3729061_3729078dup | CA2631403352 | CREBBP | c.5973_5990dup (p.Pro1997_Val1998insGlySerGlnMetAlaPro) c.5859_5876dup (p.Pro1959_Val1960insGlySerGlnMetAlaPro) c.5928_5945dup (p.Pro1982_Val1983insGlySerGlnMetAlaPro) c.5556_5573dup (p.Pro1858_Val1859insGlySerGlnMetAlaPro) c.5712_5729dup (p.Pro1910_Val1911insGlySerGlnMetAlaPro) c.5919_5936dup (p.Pro1979_Val1980insGlySerGlnMetAlaPro) c.5220_5237dup (p.Pro1746_Val1747insGlySerGlnMetAlaPro) c.5967_5984dup (p.Pro1995_Val1996insGlySerGlnMetAlaPro) | gnomAD v4 |
16 | g.3729058G>A | CA394554702 | CREBBP | c.5989C>T (p.Pro1997Ser) c.5875C>T (p.Pro1959Ser) c.5944C>T (p.Pro1982Ser) c.5572C>T (p.Pro1858Ser) c.5728C>T (p.Pro1910Ser) c.5935C>T (p.Pro1979Ser) c.5236C>T (p.Pro1746Ser) c.5983C>T (p.Pro1995Ser) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.3729058G>C | CA394554705 | CREBBP | c.5989C>G (p.Pro1997Ala) c.5875C>G (p.Pro1959Ala) c.5944C>G (p.Pro1982Ala) c.5572C>G (p.Pro1858Ala) c.5728C>G (p.Pro1910Ala) c.5935C>G (p.Pro1979Ala) c.5236C>G (p.Pro1746Ala) c.5983C>G (p.Pro1995Ala) | dbSNP |
16 | g.3729058G= | CA2202916193 | CREBBP | c.5989C= (p.Pro1997=) c.5875C= (p.Pro1959=) c.5944C= (p.Pro1982=) c.5572C= (p.Pro1858=) c.5728C= (p.Pro1910=) c.5935C= (p.Pro1979=) c.5236C= (p.Pro1746=) c.5983C= (p.Pro1995=) | |
16 | g.3729058G>T | CA394554704 | CREBBP | c.5989C>A (p.Pro1997Thr) c.5875C>A (p.Pro1959Thr) c.5944C>A (p.Pro1982Thr) c.5572C>A (p.Pro1858Thr) c.5728C>A (p.Pro1910Thr) c.5935C>A (p.Pro1979Thr) c.5236C>A (p.Pro1746Thr) c.5983C>A (p.Pro1995Thr) | dbSNP gnomAD v4 |
16 | g.3729059G>A | CA148134 | CREBBP | c.5988C>T (p.Ala1996=) c.5874C>T (p.Ala1958=) c.5943C>T (p.Ala1981=) c.5571C>T (p.Ala1857=) c.5727C>T (p.Ala1909=) c.5934C>T (p.Ala1978=) c.5235C>T (p.Ala1745=) c.5982C>T (p.Ala1994=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3729059G>C | CA493394222 | CREBBP | c.5988C>G (p.Ala1996=) c.5874C>G (p.Ala1958=) c.5943C>G (p.Ala1981=) c.5571C>G (p.Ala1857=) c.5727C>G (p.Ala1909=) c.5934C>G (p.Ala1978=) c.5235C>G (p.Ala1745=) c.5982C>G (p.Ala1994=) | |
16 | g.3729059G= | CA2202916194 | CREBBP | c.5988C= (p.Ala1996=) c.5874C= (p.Ala1958=) c.5943C= (p.Ala1981=) c.5571C= (p.Ala1857=) c.5727C= (p.Ala1909=) c.5934C= (p.Ala1978=) c.5235C= (p.Ala1745=) c.5982C= (p.Ala1994=) | |
16 | g.3729059G>T | CA276971835 | CREBBP | c.5988C>A (p.Ala1996=) c.5874C>A (p.Ala1958=) c.5943C>A (p.Ala1981=) c.5571C>A (p.Ala1857=) c.5727C>A (p.Ala1909=) c.5934C>A (p.Ala1978=) c.5235C>A (p.Ala1745=) c.5982C>A (p.Ala1994=) | dbSNP gnomAD v4 |
16 | g.3729060G>A | CA394554708 | CREBBP | c.5987C>T (p.Ala1996Val) c.5873C>T (p.Ala1958Val) c.5942C>T (p.Ala1981Val) c.5570C>T (p.Ala1857Val) c.5726C>T (p.Ala1909Val) c.5933C>T (p.Ala1978Val) c.5234C>T (p.Ala1745Val) c.5981C>T (p.Ala1994Val) | gnomAD v4 |
16 | g.3729060G>C | CA394554710 | CREBBP | c.5987C>G (p.Ala1996Gly) c.5873C>G (p.Ala1958Gly) c.5942C>G (p.Ala1981Gly) c.5570C>G (p.Ala1857Gly) c.5726C>G (p.Ala1909Gly) c.5933C>G (p.Ala1978Gly) c.5234C>G (p.Ala1745Gly) c.5981C>G (p.Ala1994Gly) | |
16 | g.3729060G>T | CA394554712 | CREBBP | c.5987C>A (p.Ala1996Asp) c.5873C>A (p.Ala1958Asp) c.5942C>A (p.Ala1981Asp) c.5570C>A (p.Ala1857Asp) c.5726C>A (p.Ala1909Asp) c.5933C>A (p.Ala1978Asp) c.5234C>A (p.Ala1745Asp) c.5981C>A (p.Ala1994Asp) | gnomAD v4 |
16 | g.3729060_3729061delinsGC | CA2202916195 | CREBBP | c.5986_5987delinsGC (p.Ala1996=) c.5872_5873delinsGC (p.Ala1958=) c.5941_5942delinsGC (p.Ala1981=) c.5569_5570delinsGC (p.Ala1857=) c.5725_5726delinsGC (p.Ala1909=) c.5932_5933delinsGC (p.Ala1978=) c.5233_5234delinsGC (p.Ala1745=) c.5980_5981delinsGC (p.Ala1994=) | |
16 | g.3729061C>A | CA394554713 | CREBBP | c.5986G>T (p.Ala1996Ser) c.5872G>T (p.Ala1958Ser) c.5941G>T (p.Ala1981Ser) c.5569G>T (p.Ala1857Ser) c.5725G>T (p.Ala1909Ser) c.5932G>T (p.Ala1978Ser) c.5233G>T (p.Ala1745Ser) c.5980G>T (p.Ala1994Ser) | dbSNP gnomAD v4 |
16 | g.3729061C= | CA2202916196 | CREBBP | c.5986G= (p.Ala1996=) c.5872G= (p.Ala1958=) c.5941G= (p.Ala1981=) c.5569G= (p.Ala1857=) c.5725G= (p.Ala1909=) c.5932G= (p.Ala1978=) c.5233G= (p.Ala1745=) c.5980G= (p.Ala1994=) | |
16 | g.3729061C>G | CA394554714 | CREBBP | c.5986G>C (p.Ala1996Pro) c.5872G>C (p.Ala1958Pro) c.5941G>C (p.Ala1981Pro) c.5569G>C (p.Ala1857Pro) c.5725G>C (p.Ala1909Pro) c.5932G>C (p.Ala1978Pro) c.5233G>C (p.Ala1745Pro) c.5980G>C (p.Ala1994Pro) | ClinVar dbSNP gnomAD v2 |
16 | g.3729061C>T | CA394554715 | CREBBP | c.5986G>A (p.Ala1996Thr) c.5872G>A (p.Ala1958Thr) c.5941G>A (p.Ala1981Thr) c.5569G>A (p.Ala1857Thr) c.5725G>A (p.Ala1909Thr) c.5932G>A (p.Ala1978Thr) c.5233G>A (p.Ala1745Thr) c.5980G>A (p.Ala1994Thr) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
16 | g.3729062del | CA915949064 | CREBBP | c.5986del (p.Ala1996ProfsTer3) c.5872del (p.Ala1958ProfsTer3) c.5941del (p.Ala1981ProfsTer3) c.5569del (p.Ala1857ProfsTer3) c.5725del (p.Ala1909ProfsTer3) c.5932del (p.Ala1978ProfsTer3) c.5233del (p.Ala1745ProfsTer3) c.5980del (p.Ala1994ProfsTer3) | ClinVar dbSNP |
16 | g.3729062C>A | CA394554716 | CREBBP | c.5985G>T (p.Met1995Ile) c.5871G>T (p.Met1957Ile) c.5940G>T (p.Met1980Ile) c.5568G>T (p.Met1856Ile) c.5724G>T (p.Met1908Ile) c.5931G>T (p.Met1977Ile) c.5232G>T (p.Met1744Ile) c.5979G>T (p.Met1993Ile) | dbSNP gnomAD v4 |
16 | g.3729062C>G | CA394554717 | CREBBP | c.5985G>C (p.Met1995Ile) c.5871G>C (p.Met1957Ile) c.5940G>C (p.Met1980Ile) c.5568G>C (p.Met1856Ile) c.5724G>C (p.Met1908Ile) c.5931G>C (p.Met1977Ile) c.5232G>C (p.Met1744Ile) c.5979G>C (p.Met1993Ile) | |
16 | g.3729062C>T | CA394554718 | CREBBP | c.5985G>A (p.Met1995Ile) c.5871G>A (p.Met1957Ile) c.5940G>A (p.Met1980Ile) c.5568G>A (p.Met1856Ile) c.5724G>A (p.Met1908Ile) c.5931G>A (p.Met1977Ile) c.5232G>A (p.Met1744Ile) c.5979G>A (p.Met1993Ile) | dbSNP |
16 | g.3729063A>C | CA394554723 | CREBBP | c.5984T>G (p.Met1995Arg) c.5870T>G (p.Met1957Arg) c.5939T>G (p.Met1980Arg) c.5567T>G (p.Met1856Arg) c.5723T>G (p.Met1908Arg) c.5930T>G (p.Met1977Arg) c.5231T>G (p.Met1744Arg) c.5978T>G (p.Met1993Arg) | dbSNP |
16 | g.3729063A>G | CA394554721 | CREBBP | c.5984T>C (p.Met1995Thr) c.5870T>C (p.Met1957Thr) c.5939T>C (p.Met1980Thr) c.5567T>C (p.Met1856Thr) c.5723T>C (p.Met1908Thr) c.5930T>C (p.Met1977Thr) c.5231T>C (p.Met1744Thr) c.5978T>C (p.Met1993Thr) | |
16 | g.3729063A>T | CA394554720 | CREBBP | c.5984T>A (p.Met1995Lys) c.5870T>A (p.Met1957Lys) c.5939T>A (p.Met1980Lys) c.5567T>A (p.Met1856Lys) c.5723T>A (p.Met1908Lys) c.5930T>A (p.Met1977Lys) c.5231T>A (p.Met1744Lys) c.5978T>A (p.Met1993Lys) | dbSNP |
16 | g.3729064T>A | CA394554725 | CREBBP | c.5983A>T (p.Met1995Leu) c.5869A>T (p.Met1957Leu) c.5938A>T (p.Met1980Leu) c.5566A>T (p.Met1856Leu) c.5722A>T (p.Met1908Leu) c.5929A>T (p.Met1977Leu) c.5230A>T (p.Met1744Leu) c.5977A>T (p.Met1993Leu) | dbSNP |
16 | g.3729064T>C | CA394554726 | CREBBP | c.5983A>G (p.Met1995Val) c.5869A>G (p.Met1957Val) c.5938A>G (p.Met1980Val) c.5566A>G (p.Met1856Val) c.5722A>G (p.Met1908Val) c.5929A>G (p.Met1977Val) c.5230A>G (p.Met1744Val) c.5977A>G (p.Met1993Val) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.3729064T>G | CA394554728 | CREBBP | c.5983A>C (p.Met1995Leu) c.5869A>C (p.Met1957Leu) c.5938A>C (p.Met1980Leu) c.5566A>C (p.Met1856Leu) c.5722A>C (p.Met1908Leu) c.5929A>C (p.Met1977Leu) c.5230A>C (p.Met1744Leu) c.5977A>C (p.Met1993Leu) | |
16 | g.3729064T= | CA2202916197 | CREBBP | c.5983A= (p.Met1995=) c.5869A= (p.Met1957=) c.5938A= (p.Met1980=) c.5566A= (p.Met1856=) c.5722A= (p.Met1908=) c.5929A= (p.Met1977=) c.5230A= (p.Met1744=) c.5977A= (p.Met1993=) | |
16 | g.3729065C>A | CA394554731 | CREBBP | c.5982G>T (p.Gln1994His) c.5868G>T (p.Gln1956His) c.5937G>T (p.Gln1979His) c.5565G>T (p.Gln1855His) c.5721G>T (p.Gln1907His) c.5928G>T (p.Gln1976His) c.5229G>T (p.Gln1743His) c.5976G>T (p.Gln1992His) | dbSNP gnomAD v4 |
16 | g.3729065C= | CA2202916198 | CREBBP | c.5982G= (p.Gln1994=) c.5868G= (p.Gln1956=) c.5937G= (p.Gln1979=) c.5565G= (p.Gln1855=) c.5721G= (p.Gln1907=) c.5928G= (p.Gln1976=) c.5229G= (p.Gln1743=) c.5976G= (p.Gln1992=) | |
16 | g.3729065C>G | CA394554733 | CREBBP | c.5982G>C (p.Gln1994His) c.5868G>C (p.Gln1956His) c.5937G>C (p.Gln1979His) c.5565G>C (p.Gln1855His) c.5721G>C (p.Gln1907His) c.5928G>C (p.Gln1976His) c.5229G>C (p.Gln1743His) c.5976G>C (p.Gln1992His) | gnomAD v4 COSMIC |
16 | g.3729065C>T | CA7869205 | CREBBP | c.5982G>A (p.Gln1994=) c.5868G>A (p.Gln1956=) c.5937G>A (p.Gln1979=) c.5565G>A (p.Gln1855=) c.5721G>A (p.Gln1907=) c.5928G>A (p.Gln1976=) c.5229G>A (p.Gln1743=) c.5976G>A (p.Gln1992=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3729066T>A | CA394554736 | CREBBP | c.5981A>T (p.Gln1994Leu) c.5867A>T (p.Gln1956Leu) c.5936A>T (p.Gln1979Leu) c.5564A>T (p.Gln1855Leu) c.5720A>T (p.Gln1907Leu) c.5927A>T (p.Gln1976Leu) c.5228A>T (p.Gln1743Leu) c.5975A>T (p.Gln1992Leu) | dbSNP |
16 | g.3729066T>C | CA394554738 | CREBBP | c.5981A>G (p.Gln1994Arg) c.5867A>G (p.Gln1956Arg) c.5936A>G (p.Gln1979Arg) c.5564A>G (p.Gln1855Arg) c.5720A>G (p.Gln1907Arg) c.5927A>G (p.Gln1976Arg) c.5228A>G (p.Gln1743Arg) c.5975A>G (p.Gln1992Arg) | gnomAD v4 |
16 | g.3729066T>G | CA394554740 | CREBBP | c.5981A>C (p.Gln1994Pro) c.5867A>C (p.Gln1956Pro) c.5936A>C (p.Gln1979Pro) c.5564A>C (p.Gln1855Pro) c.5720A>C (p.Gln1907Pro) c.5927A>C (p.Gln1976Pro) c.5228A>C (p.Gln1743Pro) c.5975A>C (p.Gln1992Pro) | gnomAD v4 |
16 | g.3729066_3729086delinsATGC | CA2573152060 | CREBBP | c.5961_5981delinsGCAT (p.Met1988HisfsTer?) c.5847_5867delinsGCAT (p.Met1950HisfsTer?) c.5916_5936delinsGCAT (p.Met1973HisfsTer?) c.5544_5564delinsGCAT (p.Met1849HisfsTer?) c.5700_5720delinsGCAT (p.Met1901HisfsTer?) c.5907_5927delinsGCAT (p.Met1970HisfsTer?) c.5208_5228delinsGCAT (p.Met1737HisfsTer?) c.5955_5975delinsGCAT (p.Met1986HisfsTer?) | ClinVar dbSNP |
16 | g.3729067G>A | CA394554742 | CREBBP | c.5980C>T (p.Gln1994Ter) c.5866C>T (p.Gln1956Ter) c.5935C>T (p.Gln1979Ter) c.5563C>T (p.Gln1855Ter) c.5719C>T (p.Gln1907Ter) c.5926C>T (p.Gln1976Ter) c.5227C>T (p.Gln1743Ter) c.5974C>T (p.Gln1992Ter) | dbSNP |
16 | g.3729067G>C | CA394554744 | CREBBP | c.5980C>G (p.Gln1994Glu) c.5866C>G (p.Gln1956Glu) c.5935C>G (p.Gln1979Glu) c.5563C>G (p.Gln1855Glu) c.5719C>G (p.Gln1907Glu) c.5926C>G (p.Gln1976Glu) c.5227C>G (p.Gln1743Glu) c.5974C>G (p.Gln1992Glu) | gnomAD v4 |
16 | g.3729067G>T | CA394554745 | CREBBP | c.5980C>A (p.Gln1994Lys) c.5866C>A (p.Gln1956Lys) c.5935C>A (p.Gln1979Lys) c.5563C>A (p.Gln1855Lys) c.5719C>A (p.Gln1907Lys) c.5926C>A (p.Gln1976Lys) c.5227C>A (p.Gln1743Lys) c.5974C>A (p.Gln1992Lys) | dbSNP gnomAD v4 |
16 | g.3729068G>A | CA493394236 | CREBBP | c.5979C>T (p.Ser1993=) c.5865C>T (p.Ser1955=) c.5934C>T (p.Ser1978=) c.5562C>T (p.Ser1854=) c.5718C>T (p.Ser1906=) c.5925C>T (p.Ser1975=) c.5226C>T (p.Ser1742=) c.5973C>T (p.Ser1991=) | dbSNP gnomAD v4 |
16 | g.3729068G>C | CA394554750 | CREBBP | c.5979C>G (p.Ser1993Arg) c.5865C>G (p.Ser1955Arg) c.5934C>G (p.Ser1978Arg) c.5562C>G (p.Ser1854Arg) c.5718C>G (p.Ser1906Arg) c.5925C>G (p.Ser1975Arg) c.5226C>G (p.Ser1742Arg) c.5973C>G (p.Ser1991Arg) | dbSNP |
16 | g.3729068G>T | CA394554748 | CREBBP | c.5979C>A (p.Ser1993Arg) c.5865C>A (p.Ser1955Arg) c.5934C>A (p.Ser1978Arg) c.5562C>A (p.Ser1854Arg) c.5718C>A (p.Ser1906Arg) c.5925C>A (p.Ser1975Arg) c.5226C>A (p.Ser1742Arg) c.5973C>A (p.Ser1991Arg) | gnomAD v4 |
16 | g.3729070_3729087del | CA2580091138 | CREBBP | c.5962_5979del (p.Met1988_Ser1993del) c.5848_5865del (p.Met1950_Ser1955del) c.5917_5934del (p.Met1973_Ser1978del) c.5545_5562del (p.Met1849_Ser1854del) c.5701_5718del (p.Met1901_Ser1906del) c.5908_5925del (p.Met1970_Ser1975del) c.5209_5226del (p.Met1737_Ser1742del) c.5956_5973del (p.Met1986_Ser1991del) | ClinVar |
16 | g.3729069C>A | CA394554752 | CREBBP | c.5978G>T (p.Ser1993Ile) c.5864G>T (p.Ser1955Ile) c.5933G>T (p.Ser1978Ile) c.5561G>T (p.Ser1854Ile) c.5717G>T (p.Ser1906Ile) c.5924G>T (p.Ser1975Ile) c.5225G>T (p.Ser1742Ile) c.5972G>T (p.Ser1991Ile) | dbSNP |
16 | g.3729069C>G | CA394554754 | CREBBP | c.5978G>C (p.Ser1993Thr) c.5864G>C (p.Ser1955Thr) c.5933G>C (p.Ser1978Thr) c.5561G>C (p.Ser1854Thr) c.5717G>C (p.Ser1906Thr) c.5924G>C (p.Ser1975Thr) c.5225G>C (p.Ser1742Thr) c.5972G>C (p.Ser1991Thr) | dbSNP |
16 | g.3729069C>T | CA394554756 | CREBBP | c.5978G>A (p.Ser1993Asn) c.5864G>A (p.Ser1955Asn) c.5933G>A (p.Ser1978Asn) c.5561G>A (p.Ser1854Asn) c.5717G>A (p.Ser1906Asn) c.5924G>A (p.Ser1975Asn) c.5225G>A (p.Ser1742Asn) c.5972G>A (p.Ser1991Asn) | gnomAD v4 |
16 | g.3729069_3729078delinsCTCCCCGGGG | CA2202916199 | CREBBP | c.5969_5978delinsCCCCGGGGAG (p.Thr1990=) c.5855_5864delinsCCCCGGGGAG (p.Thr1952=) c.5924_5933delinsCCCCGGGGAG (p.Thr1975=) c.5552_5561delinsCCCCGGGGAG (p.Thr1851=) c.5708_5717delinsCCCCGGGGAG (p.Thr1903=) c.5915_5924delinsCCCCGGGGAG (p.Thr1972=) c.5216_5225delinsCCCCGGGGAG (p.Thr1739=) c.5963_5972delinsCCCCGGGGAG (p.Thr1988=) | |
16 | g.3729070del | CA2631403388 | CREBBP | c.5977del (p.Ser1993AlafsTer6) c.5863del (p.Ser1955AlafsTer6) c.5932del (p.Ser1978AlafsTer6) c.5560del (p.Ser1854AlafsTer6) c.5716del (p.Ser1906AlafsTer6) c.5923del (p.Ser1975AlafsTer6) c.5224del (p.Ser1742AlafsTer6) c.5971del (p.Ser1991AlafsTer6) | gnomAD v4 |
16 | g.3729070T>A | CA394554757 | CREBBP | c.5977A>T (p.Ser1993Cys) c.5863A>T (p.Ser1955Cys) c.5932A>T (p.Ser1978Cys) c.5560A>T (p.Ser1854Cys) c.5716A>T (p.Ser1906Cys) c.5923A>T (p.Ser1975Cys) c.5224A>T (p.Ser1742Cys) c.5971A>T (p.Ser1991Cys) | |
16 | g.3729070T>C | CA394554759 | CREBBP | c.5977A>G (p.Ser1993Gly) c.5863A>G (p.Ser1955Gly) c.5932A>G (p.Ser1978Gly) c.5560A>G (p.Ser1854Gly) c.5716A>G (p.Ser1906Gly) c.5923A>G (p.Ser1975Gly) c.5224A>G (p.Ser1742Gly) c.5971A>G (p.Ser1991Gly) | dbSNP |
16 | g.3729070T>G | CA394554761 | CREBBP | c.5977A>C (p.Ser1993Arg) c.5863A>C (p.Ser1955Arg) c.5932A>C (p.Ser1978Arg) c.5560A>C (p.Ser1854Arg) c.5716A>C (p.Ser1906Arg) c.5923A>C (p.Ser1975Arg) c.5224A>C (p.Ser1742Arg) c.5971A>C (p.Ser1991Arg) | |
16 | g.3729070T= | CA2202916200 | CREBBP | c.5977A= (p.Ser1993=) c.5863A= (p.Ser1955=) c.5932A= (p.Ser1978=) c.5560A= (p.Ser1854=) c.5716A= (p.Ser1906=) c.5923A= (p.Ser1975=) c.5224A= (p.Ser1742=) c.5971A= (p.Ser1991=) | |
16 | g.3729075_3729083del | CA243765 | CREBBP | c.5969_5977del (p.Thr1990_Gly1992del) c.5855_5863del (p.Thr1952_Gly1954del) c.5924_5932del (p.Thr1975_Gly1977del) c.5552_5560del (p.Thr1851_Gly1853del) c.5708_5716del (p.Thr1903_Gly1905del) c.5915_5923del (p.Thr1972_Gly1974del) c.5216_5224del (p.Thr1739_Gly1741del) c.5963_5971del (p.Thr1988_Gly1990del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3729071C>A | CA493394242 | CREBBP | c.5976G>T (p.Gly1992=) c.5862G>T (p.Gly1954=) c.5931G>T (p.Gly1977=) c.5559G>T (p.Gly1853=) c.5715G>T (p.Gly1905=) c.5922G>T (p.Gly1974=) c.5223G>T (p.Gly1741=) c.5970G>T (p.Gly1990=) | gnomAD v4 |
16 | g.3729071C>G | CA493394239 | CREBBP | c.5976G>C (p.Gly1992=) c.5862G>C (p.Gly1954=) c.5931G>C (p.Gly1977=) c.5559G>C (p.Gly1853=) c.5715G>C (p.Gly1905=) c.5922G>C (p.Gly1974=) c.5223G>C (p.Gly1741=) c.5970G>C (p.Gly1990=) | dbSNP |
16 | g.3729071C>T | CA493394240 | CREBBP | c.5976G>A (p.Gly1992=) c.5862G>A (p.Gly1954=) c.5931G>A (p.Gly1977=) c.5559G>A (p.Gly1853=) c.5715G>A (p.Gly1905=) c.5922G>A (p.Gly1974=) c.5223G>A (p.Gly1741=) c.5970G>A (p.Gly1990=) | dbSNP gnomAD v4 |
16 | g.3729074del | CA2631403393 | CREBBP | c.5976del (p.Ser1993AlafsTer6) c.5862del (p.Ser1955AlafsTer6) c.5931del (p.Ser1978AlafsTer6) c.5559del (p.Ser1854AlafsTer6) c.5715del (p.Ser1906AlafsTer6) c.5922del (p.Ser1975AlafsTer6) c.5223del (p.Ser1742AlafsTer6) c.5970del (p.Ser1991AlafsTer6) | dbSNP gnomAD v4 |
16 | g.3729072C>A | CA394554765 | CREBBP | c.5975G>T (p.Gly1992Val) c.5861G>T (p.Gly1954Val) c.5930G>T (p.Gly1977Val) c.5558G>T (p.Gly1853Val) c.5714G>T (p.Gly1905Val) c.5921G>T (p.Gly1974Val) c.5222G>T (p.Gly1741Val) c.5969G>T (p.Gly1990Val) | |
16 | g.3729072C>G | CA394554766 | CREBBP | c.5975G>C (p.Gly1992Ala) c.5861G>C (p.Gly1954Ala) c.5930G>C (p.Gly1977Ala) c.5558G>C (p.Gly1853Ala) c.5714G>C (p.Gly1905Ala) c.5921G>C (p.Gly1974Ala) c.5222G>C (p.Gly1741Ala) c.5969G>C (p.Gly1990Ala) | |
16 | g.3729072C>T | CA394554768 | CREBBP | c.5975G>A (p.Gly1992Glu) c.5861G>A (p.Gly1954Glu) c.5930G>A (p.Gly1977Glu) c.5558G>A (p.Gly1853Glu) c.5714G>A (p.Gly1905Glu) c.5921G>A (p.Gly1974Glu) c.5222G>A (p.Gly1741Glu) c.5969G>A (p.Gly1990Glu) | |
16 | g.3729073C>A | CA394554771 | CREBBP | c.5974G>T (p.Gly1992Trp) c.5860G>T (p.Gly1954Trp) c.5929G>T (p.Gly1977Trp) c.5557G>T (p.Gly1853Trp) c.5713G>T (p.Gly1905Trp) c.5920G>T (p.Gly1974Trp) c.5221G>T (p.Gly1741Trp) c.5968G>T (p.Gly1990Trp) | gnomAD v4 |
16 | g.3729073C= | CA2202916201 | CREBBP | c.5974G= (p.Gly1992=) c.5860G= (p.Gly1954=) c.5929G= (p.Gly1977=) c.5557G= (p.Gly1853=) c.5713G= (p.Gly1905=) c.5920G= (p.Gly1974=) c.5221G= (p.Gly1741=) c.5968G= (p.Gly1990=) | |
16 | g.3729073C>G | CA394554772 | CREBBP | c.5974G>C (p.Gly1992Arg) c.5860G>C (p.Gly1954Arg) c.5929G>C (p.Gly1977Arg) c.5557G>C (p.Gly1853Arg) c.5713G>C (p.Gly1905Arg) c.5920G>C (p.Gly1974Arg) c.5221G>C (p.Gly1741Arg) c.5968G>C (p.Gly1990Arg) | |
16 | g.3729073C>T | CA394554774 | CREBBP | c.5974G>A (p.Gly1992Arg) c.5860G>A (p.Gly1954Arg) c.5929G>A (p.Gly1977Arg) c.5557G>A (p.Gly1853Arg) c.5713G>A (p.Gly1905Arg) c.5920G>A (p.Gly1974Arg) c.5221G>A (p.Gly1741Arg) c.5968G>A (p.Gly1990Arg) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.3729074C>A | CA493394246 | CREBBP | c.5973G>T (p.Pro1991=) c.5859G>T (p.Pro1953=) c.5928G>T (p.Pro1976=) c.5556G>T (p.Pro1852=) c.5712G>T (p.Pro1904=) c.5919G>T (p.Pro1973=) c.5220G>T (p.Pro1740=) c.5967G>T (p.Pro1989=) | gnomAD v4 |
16 | g.3729074C= | CA2202916202 | CREBBP | c.5973G= (p.Pro1991=) c.5859G= (p.Pro1953=) c.5928G= (p.Pro1976=) c.5556G= (p.Pro1852=) c.5712G= (p.Pro1904=) c.5919G= (p.Pro1973=) c.5220G= (p.Pro1740=) c.5967G= (p.Pro1989=) | |
16 | g.3729074C>G | CA493394247 | CREBBP | c.5973G>C (p.Pro1991=) c.5859G>C (p.Pro1953=) c.5928G>C (p.Pro1976=) c.5556G>C (p.Pro1852=) c.5712G>C (p.Pro1904=) c.5919G>C (p.Pro1973=) c.5220G>C (p.Pro1740=) c.5967G>C (p.Pro1989=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3729074C>T | CA7869206 | CREBBP | c.5973G>A (p.Pro1991=) c.5859G>A (p.Pro1953=) c.5928G>A (p.Pro1976=) c.5556G>A (p.Pro1852=) c.5712G>A (p.Pro1904=) c.5919G>A (p.Pro1973=) c.5220G>A (p.Pro1740=) c.5967G>A (p.Pro1989=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3729075G>A | CA7869208 | CREBBP | c.5972C>T (p.Pro1991Leu) c.5858C>T (p.Pro1953Leu) c.5927C>T (p.Pro1976Leu) c.5555C>T (p.Pro1852Leu) c.5711C>T (p.Pro1904Leu) c.5918C>T (p.Pro1973Leu) c.5219C>T (p.Pro1740Leu) c.5966C>T (p.Pro1989Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3729075G>C | CA394554779 | CREBBP | c.5972C>G (p.Pro1991Arg) c.5858C>G (p.Pro1953Arg) c.5927C>G (p.Pro1976Arg) c.5555C>G (p.Pro1852Arg) c.5711C>G (p.Pro1904Arg) c.5918C>G (p.Pro1973Arg) c.5219C>G (p.Pro1740Arg) c.5966C>G (p.Pro1989Arg) | dbSNP gnomAD v4 |
16 | g.3729075G= | CA2202916203 | CREBBP | c.5972C= (p.Pro1991=) c.5858C= (p.Pro1953=) c.5927C= (p.Pro1976=) c.5555C= (p.Pro1852=) c.5711C= (p.Pro1904=) c.5918C= (p.Pro1973=) c.5219C= (p.Pro1740=) c.5966C= (p.Pro1989=) | |
16 | g.3729075G>T | CA7869207 | CREBBP | c.5972C>A (p.Pro1991Gln) c.5858C>A (p.Pro1953Gln) c.5927C>A (p.Pro1976Gln) c.5555C>A (p.Pro1852Gln) c.5711C>A (p.Pro1904Gln) c.5918C>A (p.Pro1973Gln) c.5219C>A (p.Pro1740Gln) c.5966C>A (p.Pro1989Gln) | dbSNP ExAC gnomAD v4 |
16 | g.3729078dup | CA2838933571 | CREBBP | c.5972dup (p.Ser1993GlufsTer?) c.5858dup (p.Ser1955GlufsTer?) c.5927dup (p.Ser1978GlufsTer?) c.5555dup (p.Ser1854GlufsTer?) c.5711dup (p.Ser1906GlufsTer?) c.5918dup (p.Ser1975GlufsTer?) c.5219dup (p.Ser1742GlufsTer?) c.5966dup (p.Ser1991GlufsTer?) | |
16 | g.3729078del | CA2631403404 | CREBBP | c.5972del (p.Pro1991ArgfsTer8) c.5858del (p.Pro1953ArgfsTer8) c.5927del (p.Pro1976ArgfsTer8) c.5555del (p.Pro1852ArgfsTer8) c.5711del (p.Pro1904ArgfsTer8) c.5918del (p.Pro1973ArgfsTer8) c.5219del (p.Pro1740ArgfsTer8) c.5966del (p.Pro1989ArgfsTer8) | gnomAD v4 |
16 | g.3729076G>A | CA7869209 | CREBBP | c.5971C>T (p.Pro1991Ser) c.5857C>T (p.Pro1953Ser) c.5926C>T (p.Pro1976Ser) c.5554C>T (p.Pro1852Ser) c.5710C>T (p.Pro1904Ser) c.5917C>T (p.Pro1973Ser) c.5218C>T (p.Pro1740Ser) c.5965C>T (p.Pro1989Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.3729076G>C | CA394554783 | CREBBP | c.5971C>G (p.Pro1991Ala) c.5857C>G (p.Pro1953Ala) c.5926C>G (p.Pro1976Ala) c.5554C>G (p.Pro1852Ala) c.5710C>G (p.Pro1904Ala) c.5917C>G (p.Pro1973Ala) c.5218C>G (p.Pro1740Ala) c.5965C>G (p.Pro1989Ala) | dbSNP |
16 | g.3729076G= | CA2202916204 | CREBBP | c.5971C= (p.Pro1991=) c.5857C= (p.Pro1953=) c.5926C= (p.Pro1976=) c.5554C= (p.Pro1852=) c.5710C= (p.Pro1904=) c.5917C= (p.Pro1973=) c.5218C= (p.Pro1740=) c.5965C= (p.Pro1989=) | |
16 | g.3729076G>T | CA394554785 | CREBBP | c.5971C>A (p.Pro1991Thr) c.5857C>A (p.Pro1953Thr) c.5926C>A (p.Pro1976Thr) c.5554C>A (p.Pro1852Thr) c.5710C>A (p.Pro1904Thr) c.5917C>A (p.Pro1973Thr) c.5218C>A (p.Pro1740Thr) c.5965C>A (p.Pro1989Thr) | dbSNP gnomAD v4 |
16 | g.3729077G>A | CA7869210 | CREBBP | c.5970C>T (p.Thr1990=) c.5856C>T (p.Thr1952=) c.5925C>T (p.Thr1975=) c.5553C>T (p.Thr1851=) c.5709C>T (p.Thr1903=) c.5916C>T (p.Thr1972=) c.5217C>T (p.Thr1739=) c.5964C>T (p.Thr1988=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3729077G>C | CA493394249 | CREBBP | c.5970C>G (p.Thr1990=) c.5856C>G (p.Thr1952=) c.5925C>G (p.Thr1975=) c.5553C>G (p.Thr1851=) c.5709C>G (p.Thr1903=) c.5916C>G (p.Thr1972=) c.5217C>G (p.Thr1739=) c.5964C>G (p.Thr1988=) | dbSNP |
16 | g.3729077G= | CA2202916205 | CREBBP | c.5970C= (p.Thr1990=) c.5856C= (p.Thr1952=) c.5925C= (p.Thr1975=) c.5553C= (p.Thr1851=) c.5709C= (p.Thr1903=) c.5916C= (p.Thr1972=) c.5217C= (p.Thr1739=) c.5964C= (p.Thr1988=) | |
16 | g.3729077G>T | CA493394251 | CREBBP | c.5970C>A (p.Thr1990=) c.5856C>A (p.Thr1952=) c.5925C>A (p.Thr1975=) c.5553C>A (p.Thr1851=) c.5709C>A (p.Thr1903=) c.5916C>A (p.Thr1972=) c.5217C>A (p.Thr1739=) c.5964C>A (p.Thr1988=) | gnomAD v4 |
16 | g.3729078G>A | CA394554788 | CREBBP | c.5969C>T (p.Thr1990Ile) c.5855C>T (p.Thr1952Ile) c.5924C>T (p.Thr1975Ile) c.5552C>T (p.Thr1851Ile) c.5708C>T (p.Thr1903Ile) c.5915C>T (p.Thr1972Ile) c.5216C>T (p.Thr1739Ile) c.5963C>T (p.Thr1988Ile) | dbSNP gnomAD v4 |
16 | g.3729078G>C | CA394554790 | CREBBP | c.5969C>G (p.Thr1990Ser) c.5855C>G (p.Thr1952Ser) c.5924C>G (p.Thr1975Ser) c.5552C>G (p.Thr1851Ser) c.5708C>G (p.Thr1903Ser) c.5915C>G (p.Thr1972Ser) c.5216C>G (p.Thr1739Ser) c.5963C>G (p.Thr1988Ser) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.3729078G= | CA2202916206 | CREBBP | c.5969C= (p.Thr1990=) c.5855C= (p.Thr1952=) c.5924C= (p.Thr1975=) c.5552C= (p.Thr1851=) c.5708C= (p.Thr1903=) c.5915C= (p.Thr1972=) c.5216C= (p.Thr1739=) c.5963C= (p.Thr1988=) | |
16 | g.3729078G>T | CA394554791 | CREBBP | c.5969C>A (p.Thr1990Asn) c.5855C>A (p.Thr1952Asn) c.5924C>A (p.Thr1975Asn) c.5552C>A (p.Thr1851Asn) c.5708C>A (p.Thr1903Asn) c.5915C>A (p.Thr1972Asn) c.5216C>A (p.Thr1739Asn) c.5963C>A (p.Thr1988Asn) | dbSNP gnomAD v4 |
16 | g.3729079T>A | CA394554793 | CREBBP | c.5968A>T (p.Thr1990Ser) c.5854A>T (p.Thr1952Ser) c.5923A>T (p.Thr1975Ser) c.5551A>T (p.Thr1851Ser) c.5707A>T (p.Thr1903Ser) c.5914A>T (p.Thr1972Ser) c.5215A>T (p.Thr1739Ser) c.5962A>T (p.Thr1988Ser) | |
16 | g.3729079T>C | CA394554794 | CREBBP | c.5968A>G (p.Thr1990Ala) c.5854A>G (p.Thr1952Ala) c.5923A>G (p.Thr1975Ala) c.5551A>G (p.Thr1851Ala) c.5707A>G (p.Thr1903Ala) c.5914A>G (p.Thr1972Ala) c.5215A>G (p.Thr1739Ala) c.5962A>G (p.Thr1988Ala) | |
16 | g.3729079T>G | CA394554795 | CREBBP | c.5968A>C (p.Thr1990Pro) c.5854A>C (p.Thr1952Pro) c.5923A>C (p.Thr1975Pro) c.5551A>C (p.Thr1851Pro) c.5707A>C (p.Thr1903Pro) c.5914A>C (p.Thr1972Pro) c.5215A>C (p.Thr1739Pro) c.5962A>C (p.Thr1988Pro) | gnomAD v4 |
16 | g.3729079_3729080delinsTC | CA2202916207 | CREBBP | c.5967_5968delinsGA (p.Gly1989=) c.5853_5854delinsGA (p.Gly1951=) c.5922_5923delinsGA (p.Gly1974=) c.5550_5551delinsGA (p.Gly1850=) c.5706_5707delinsGA (p.Gly1902=) c.5913_5914delinsGA (p.Gly1971=) c.5214_5215delinsGA (p.Gly1738=) c.5961_5962delinsGA (p.Gly1987=) | |
16 | g.3729080C>A | CA493394255 | CREBBP | c.5967G>T (p.Gly1989=) c.5853G>T (p.Gly1951=) c.5922G>T (p.Gly1974=) c.5550G>T (p.Gly1850=) c.5706G>T (p.Gly1902=) c.5913G>T (p.Gly1971=) c.5214G>T (p.Gly1738=) c.5961G>T (p.Gly1987=) | dbSNP gnomAD v4 |
16 | g.3729080C= | CA2202916208 | CREBBP | c.5967G= (p.Gly1989=) c.5853G= (p.Gly1951=) c.5922G= (p.Gly1974=) c.5550G= (p.Gly1850=) c.5706G= (p.Gly1902=) c.5913G= (p.Gly1971=) c.5214G= (p.Gly1738=) c.5961G= (p.Gly1987=) | |
16 | g.3729080C>G | CA493394254 | CREBBP | c.5967G>C (p.Gly1989=) c.5853G>C (p.Gly1951=) c.5922G>C (p.Gly1974=) c.5550G>C (p.Gly1850=) c.5706G>C (p.Gly1902=) c.5913G>C (p.Gly1971=) c.5214G>C (p.Gly1738=) c.5961G>C (p.Gly1987=) | dbSNP |
16 | g.3729080C>T | CA7869211 | CREBBP | c.5967G>A (p.Gly1989=) c.5853G>A (p.Gly1951=) c.5922G>A (p.Gly1974=) c.5550G>A (p.Gly1850=) c.5706G>A (p.Gly1902=) c.5913G>A (p.Gly1971=) c.5214G>A (p.Gly1738=) c.5961G>A (p.Gly1987=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3729083del | CA158192 | CREBBP | c.5967del (p.Thr1990ProfsTer9) c.5853del (p.Thr1952ProfsTer9) c.5922del (p.Thr1975ProfsTer9) c.5550del (p.Thr1851ProfsTer9) c.5706del (p.Thr1903ProfsTer9) c.5913del (p.Thr1972ProfsTer9) c.5214del (p.Thr1739ProfsTer9) c.5961del (p.Thr1988ProfsTer9) | ClinVar dbSNP gnomAD v4 |
16 | g.3729081C>A | CA394554798 | CREBBP | c.5966G>T (p.Gly1989Val) c.5852G>T (p.Gly1951Val) c.5921G>T (p.Gly1974Val) c.5549G>T (p.Gly1850Val) c.5705G>T (p.Gly1902Val) c.5912G>T (p.Gly1971Val) c.5213G>T (p.Gly1738Val) c.5960G>T (p.Gly1987Val) | dbSNP |
16 | g.3729081C= | CA2202916209 | CREBBP | c.5966G= (p.Gly1989=) c.5852G= (p.Gly1951=) c.5921G= (p.Gly1974=) c.5549G= (p.Gly1850=) c.5705G= (p.Gly1902=) c.5912G= (p.Gly1971=) c.5213G= (p.Gly1738=) c.5960G= (p.Gly1987=) | |
16 | g.3729081C>G | CA394554800 | CREBBP | c.5966G>C (p.Gly1989Ala) c.5852G>C (p.Gly1951Ala) c.5921G>C (p.Gly1974Ala) c.5549G>C (p.Gly1850Ala) c.5705G>C (p.Gly1902Ala) c.5912G>C (p.Gly1971Ala) c.5213G>C (p.Gly1738Ala) c.5960G>C (p.Gly1987Ala) | dbSNP |
16 | g.3729081C>T | CA7869212 | CREBBP | c.5966G>A (p.Gly1989Glu) c.5852G>A (p.Gly1951Glu) c.5921G>A (p.Gly1974Glu) c.5549G>A (p.Gly1850Glu) c.5705G>A (p.Gly1902Glu) c.5912G>A (p.Gly1971Glu) c.5213G>A (p.Gly1738Glu) c.5960G>A (p.Gly1987Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.3729082C>A | CA394554802 | CREBBP | c.5965G>T (p.Gly1989Trp) c.5851G>T (p.Gly1951Trp) c.5920G>T (p.Gly1974Trp) c.5548G>T (p.Gly1850Trp) c.5704G>T (p.Gly1902Trp) c.5911G>T (p.Gly1971Trp) c.5212G>T (p.Gly1738Trp) c.5959G>T (p.Gly1987Trp) | dbSNP |
16 | g.3729082C>G | CA394554804 | CREBBP | c.5965G>C (p.Gly1989Arg) c.5851G>C (p.Gly1951Arg) c.5920G>C (p.Gly1974Arg) c.5548G>C (p.Gly1850Arg) c.5704G>C (p.Gly1902Arg) c.5911G>C (p.Gly1971Arg) c.5212G>C (p.Gly1738Arg) c.5959G>C (p.Gly1987Arg) | dbSNP |
16 | g.3729082C>T | CA394554806 | CREBBP | c.5965G>A (p.Gly1989Arg) c.5851G>A (p.Gly1951Arg) c.5920G>A (p.Gly1974Arg) c.5548G>A (p.Gly1850Arg) c.5704G>A (p.Gly1902Arg) c.5911G>A (p.Gly1971Arg) c.5212G>A (p.Gly1738Arg) c.5959G>A (p.Gly1987Arg) | dbSNP gnomAD v4 |
16 | g.3729083C>A | CA394554808 | CREBBP | c.5964G>T (p.Met1988Ile) c.5850G>T (p.Met1950Ile) c.5919G>T (p.Met1973Ile) c.5547G>T (p.Met1849Ile) c.5703G>T (p.Met1901Ile) c.5910G>T (p.Met1970Ile) c.5211G>T (p.Met1737Ile) c.5958G>T (p.Met1986Ile) | dbSNP gnomAD v4 |
16 | g.3729083C>G | CA394554810 | CREBBP | c.5964G>C (p.Met1988Ile) c.5850G>C (p.Met1950Ile) c.5919G>C (p.Met1973Ile) c.5547G>C (p.Met1849Ile) c.5703G>C (p.Met1901Ile) c.5910G>C (p.Met1970Ile) c.5211G>C (p.Met1737Ile) c.5958G>C (p.Met1986Ile) | |
16 | g.3729083C>T | CA394554812 | CREBBP | c.5964G>A (p.Met1988Ile) c.5850G>A (p.Met1950Ile) c.5919G>A (p.Met1973Ile) c.5547G>A (p.Met1849Ile) c.5703G>A (p.Met1901Ile) c.5910G>A (p.Met1970Ile) c.5211G>A (p.Met1737Ile) c.5958G>A (p.Met1986Ile) | dbSNP gnomAD v4 |
16 | g.3729084A= | CA2202916210 | CREBBP | c.5963T= (p.Met1988=) c.5849T= (p.Met1950=) c.5918T= (p.Met1973=) c.5546T= (p.Met1849=) c.5702T= (p.Met1901=) c.5909T= (p.Met1970=) c.5210T= (p.Met1737=) c.5957T= (p.Met1986=) | |
16 | g.3729084A>C | CA394554813 | CREBBP | c.5963T>G (p.Met1988Arg) c.5849T>G (p.Met1950Arg) c.5918T>G (p.Met1973Arg) c.5546T>G (p.Met1849Arg) c.5702T>G (p.Met1901Arg) c.5909T>G (p.Met1970Arg) c.5210T>G (p.Met1737Arg) c.5957T>G (p.Met1986Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3729084A>G | CA394554815 | CREBBP | c.5963T>C (p.Met1988Thr) c.5849T>C (p.Met1950Thr) c.5918T>C (p.Met1973Thr) c.5546T>C (p.Met1849Thr) c.5702T>C (p.Met1901Thr) c.5909T>C (p.Met1970Thr) c.5210T>C (p.Met1737Thr) c.5957T>C (p.Met1986Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.3729084A>T | CA394554817 | CREBBP | c.5963T>A (p.Met1988Lys) c.5849T>A (p.Met1950Lys) c.5918T>A (p.Met1973Lys) c.5546T>A (p.Met1849Lys) c.5702T>A (p.Met1901Lys) c.5909T>A (p.Met1970Lys) c.5210T>A (p.Met1737Lys) c.5957T>A (p.Met1986Lys) | dbSNP |
16 | g.3729085T>A | CA394554819 | CREBBP | c.5962A>T (p.Met1988Leu) c.5848A>T (p.Met1950Leu) c.5917A>T (p.Met1973Leu) c.5545A>T (p.Met1849Leu) c.5701A>T (p.Met1901Leu) c.5908A>T (p.Met1970Leu) c.5209A>T (p.Met1737Leu) c.5956A>T (p.Met1986Leu) | ClinVar dbSNP |
16 | g.3729085T>C | CA394554821 | CREBBP | c.5962A>G (p.Met1988Val) c.5848A>G (p.Met1950Val) c.5917A>G (p.Met1973Val) c.5545A>G (p.Met1849Val) c.5701A>G (p.Met1901Val) c.5908A>G (p.Met1970Val) c.5209A>G (p.Met1737Val) c.5956A>G (p.Met1986Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.3729085T>G | CA394554823 | CREBBP | c.5962A>C (p.Met1988Leu) c.5848A>C (p.Met1950Leu) c.5917A>C (p.Met1973Leu) c.5545A>C (p.Met1849Leu) c.5701A>C (p.Met1901Leu) c.5908A>C (p.Met1970Leu) c.5209A>C (p.Met1737Leu) c.5956A>C (p.Met1986Leu) | dbSNP |
16 | g.3729085T= | CA2202916211 | CREBBP | c.5962A= (p.Met1988=) c.5848A= (p.Met1950=) c.5917A= (p.Met1973=) c.5545A= (p.Met1849=) c.5701A= (p.Met1901=) c.5908A= (p.Met1970=) c.5209A= (p.Met1737=) c.5956A= (p.Met1986=) | |
16 | g.3729086G>A | CA493394260 | CREBBP | c.5961C>T (p.Gly1987=) c.5847C>T (p.Gly1949=) c.5916C>T (p.Gly1972=) c.5544C>T (p.Gly1848=) c.5700C>T (p.Gly1900=) c.5907C>T (p.Gly1969=) c.5208C>T (p.Gly1736=) c.5955C>T (p.Gly1985=) | dbSNP |
16 | g.3729086G>C | CA493394263 | CREBBP | c.5961C>G (p.Gly1987=) c.5847C>G (p.Gly1949=) c.5916C>G (p.Gly1972=) c.5544C>G (p.Gly1848=) c.5700C>G (p.Gly1900=) c.5907C>G (p.Gly1969=) c.5208C>G (p.Gly1736=) c.5955C>G (p.Gly1985=) | dbSNP |
16 | g.3729086G>T | CA493394261 | CREBBP | c.5961C>A (p.Gly1987=) c.5847C>A (p.Gly1949=) c.5916C>A (p.Gly1972=) c.5544C>A (p.Gly1848=) c.5700C>A (p.Gly1900=) c.5907C>A (p.Gly1969=) c.5208C>A (p.Gly1736=) c.5955C>A (p.Gly1985=) | gnomAD v4 |
16 | g.3729087C>A | CA394554828 | CREBBP | c.5960G>T (p.Gly1987Val) c.5846G>T (p.Gly1949Val) c.5915G>T (p.Gly1972Val) c.5543G>T (p.Gly1848Val) c.5699G>T (p.Gly1900Val) c.5906G>T (p.Gly1969Val) c.5207G>T (p.Gly1736Val) c.5954G>T (p.Gly1985Val) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.3729087C= | CA2202916212 | CREBBP | c.5960G= (p.Gly1987=) c.5846G= (p.Gly1949=) c.5915G= (p.Gly1972=) c.5543G= (p.Gly1848=) c.5699G= (p.Gly1900=) c.5906G= (p.Gly1969=) c.5207G= (p.Gly1736=) c.5954G= (p.Gly1985=) | |
16 | g.3729087C>G | CA394554826 | CREBBP | c.5960G>C (p.Gly1987Ala) c.5846G>C (p.Gly1949Ala) c.5915G>C (p.Gly1972Ala) c.5543G>C (p.Gly1848Ala) c.5699G>C (p.Gly1900Ala) c.5906G>C (p.Gly1969Ala) c.5207G>C (p.Gly1736Ala) c.5954G>C (p.Gly1985Ala) | dbSNP |
16 | g.3729087C>T | CA394554824 | CREBBP | c.5960G>A (p.Gly1987Asp) c.5846G>A (p.Gly1949Asp) c.5915G>A (p.Gly1972Asp) c.5543G>A (p.Gly1848Asp) c.5699G>A (p.Gly1900Asp) c.5906G>A (p.Gly1969Asp) c.5207G>A (p.Gly1736Asp) c.5954G>A (p.Gly1985Asp) | dbSNP gnomAD v4 |
16 | g.3729088C>A | CA394554830 | CREBBP | c.5959G>T (p.Gly1987Cys) c.5845G>T (p.Gly1949Cys) c.5914G>T (p.Gly1972Cys) c.5542G>T (p.Gly1848Cys) c.5698G>T (p.Gly1900Cys) c.5905G>T (p.Gly1969Cys) c.5206G>T (p.Gly1736Cys) c.5953G>T (p.Gly1985Cys) | dbSNP gnomAD v4 |
16 | g.3729088C>G | CA394554831 | CREBBP | c.5959G>C (p.Gly1987Arg) c.5845G>C (p.Gly1949Arg) c.5914G>C (p.Gly1972Arg) c.5542G>C (p.Gly1848Arg) c.5698G>C (p.Gly1900Arg) c.5905G>C (p.Gly1969Arg) c.5206G>C (p.Gly1736Arg) c.5953G>C (p.Gly1985Arg) | dbSNP |
16 | g.3729088C>T | CA394554833 | CREBBP | c.5959G>A (p.Gly1987Ser) c.5845G>A (p.Gly1949Ser) c.5914G>A (p.Gly1972Ser) c.5542G>A (p.Gly1848Ser) c.5698G>A (p.Gly1900Ser) c.5905G>A (p.Gly1969Ser) c.5206G>A (p.Gly1736Ser) c.5953G>A (p.Gly1985Ser) | dbSNP gnomAD v4 |
16 | g.3729089C>A | CA493394265 | CREBBP | c.5958G>T (p.Thr1986=) c.5844G>T (p.Thr1948=) c.5913G>T (p.Thr1971=) c.5541G>T (p.Thr1847=) c.5697G>T (p.Thr1899=) c.5904G>T (p.Thr1968=) c.5205G>T (p.Thr1735=) c.5952G>T (p.Thr1984=) | gnomAD v4 |
16 | g.3729089C= | CA2202916213 | CREBBP | c.5958G= (p.Thr1986=) c.5844G= (p.Thr1948=) c.5913G= (p.Thr1971=) c.5541G= (p.Thr1847=) c.5697G= (p.Thr1899=) c.5904G= (p.Thr1968=) c.5205G= (p.Thr1735=) c.5952G= (p.Thr1984=) | |
16 | g.3729089C>G | CA493394266 | CREBBP | c.5958G>C (p.Thr1986=) c.5844G>C (p.Thr1948=) c.5913G>C (p.Thr1971=) c.5541G>C (p.Thr1847=) c.5697G>C (p.Thr1899=) c.5904G>C (p.Thr1968=) c.5205G>C (p.Thr1735=) c.5952G>C (p.Thr1984=) | |
16 | g.3729089C>T | CA7869213 | CREBBP | c.5958G>A (p.Thr1986=) c.5844G>A (p.Thr1948=) c.5913G>A (p.Thr1971=) c.5541G>A (p.Thr1847=) c.5697G>A (p.Thr1899=) c.5904G>A (p.Thr1968=) c.5205G>A (p.Thr1735=) c.5952G>A (p.Thr1984=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3729090G>A | CA7869214 | CREBBP | c.5957C>T (p.Thr1986Met) c.5843C>T (p.Thr1948Met) c.5912C>T (p.Thr1971Met) c.5540C>T (p.Thr1847Met) c.5696C>T (p.Thr1899Met) c.5903C>T (p.Thr1968Met) c.5204C>T (p.Thr1735Met) c.5951C>T (p.Thr1984Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3729090G>C | CA394554836 | CREBBP | c.5957C>G (p.Thr1986Arg) c.5843C>G (p.Thr1948Arg) c.5912C>G (p.Thr1971Arg) c.5540C>G (p.Thr1847Arg) c.5696C>G (p.Thr1899Arg) c.5903C>G (p.Thr1968Arg) c.5204C>G (p.Thr1735Arg) c.5951C>G (p.Thr1984Arg) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.3729090G= | CA2202916214 | CREBBP | c.5957C= (p.Thr1986=) c.5843C= (p.Thr1948=) c.5912C= (p.Thr1971=) c.5540C= (p.Thr1847=) c.5696C= (p.Thr1899=) c.5903C= (p.Thr1968=) c.5204C= (p.Thr1735=) c.5951C= (p.Thr1984=) | |
16 | g.3729090G>T | CA394554837 | CREBBP | c.5957C>A (p.Thr1986Lys) c.5843C>A (p.Thr1948Lys) c.5912C>A (p.Thr1971Lys) c.5540C>A (p.Thr1847Lys) c.5696C>A (p.Thr1899Lys) c.5903C>A (p.Thr1968Lys) c.5204C>A (p.Thr1735Lys) c.5951C>A (p.Thr1984Lys) | gnomAD v4 |
16 | g.3729091T>A | CA394554839 | CREBBP | c.5956A>T (p.Thr1986Ser) c.5842A>T (p.Thr1948Ser) c.5911A>T (p.Thr1971Ser) c.5539A>T (p.Thr1847Ser) c.5695A>T (p.Thr1899Ser) c.5902A>T (p.Thr1968Ser) c.5203A>T (p.Thr1735Ser) c.5950A>T (p.Thr1984Ser) | dbSNP |
16 | g.3729091T>C | CA394554840 | CREBBP | c.5956A>G (p.Thr1986Ala) c.5842A>G (p.Thr1948Ala) c.5911A>G (p.Thr1971Ala) c.5539A>G (p.Thr1847Ala) c.5695A>G (p.Thr1899Ala) c.5902A>G (p.Thr1968Ala) c.5203A>G (p.Thr1735Ala) c.5950A>G (p.Thr1984Ala) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3729091T>G | CA394554841 | CREBBP | c.5956A>C (p.Thr1986Pro) c.5842A>C (p.Thr1948Pro) c.5911A>C (p.Thr1971Pro) c.5539A>C (p.Thr1847Pro) c.5695A>C (p.Thr1899Pro) c.5902A>C (p.Thr1968Pro) c.5203A>C (p.Thr1735Pro) c.5950A>C (p.Thr1984Pro) | dbSNP |
16 | g.3729091T= | CA2202916215 | CREBBP | c.5956A= (p.Thr1986=) c.5842A= (p.Thr1948=) c.5911A= (p.Thr1971=) c.5539A= (p.Thr1847=) c.5695A= (p.Thr1899=) c.5902A= (p.Thr1968=) c.5203A= (p.Thr1735=) c.5950A= (p.Thr1984=) | |
16 | g.3729092G>A | CA493394268 | CREBBP | c.5955C>T (p.Arg1985=) c.5841C>T (p.Arg1947=) c.5910C>T (p.Arg1970=) c.5538C>T (p.Arg1846=) c.5694C>T (p.Arg1898=) c.5901C>T (p.Arg1967=) c.5202C>T (p.Arg1734=) c.5949C>T (p.Arg1983=) | |
16 | g.3729092G>C | CA493394270 | CREBBP | c.5955C>G (p.Arg1985=) c.5841C>G (p.Arg1947=) c.5910C>G (p.Arg1970=) c.5538C>G (p.Arg1846=) c.5694C>G (p.Arg1898=) c.5901C>G (p.Arg1967=) c.5202C>G (p.Arg1734=) c.5949C>G (p.Arg1983=) | |
16 | g.3729092G>T | CA493394273 | CREBBP | c.5955C>A (p.Arg1985=) c.5841C>A (p.Arg1947=) c.5910C>A (p.Arg1970=) c.5538C>A (p.Arg1846=) c.5694C>A (p.Arg1898=) c.5901C>A (p.Arg1967=) c.5202C>A (p.Arg1734=) c.5949C>A (p.Arg1983=) | gnomAD v4 |
16 | g.3729093C>A | CA394554844 | CREBBP | c.5954G>T (p.Arg1985Leu) c.5840G>T (p.Arg1947Leu) c.5909G>T (p.Arg1970Leu) c.5537G>T (p.Arg1846Leu) c.5693G>T (p.Arg1898Leu) c.5900G>T (p.Arg1967Leu) c.5201G>T (p.Arg1734Leu) c.5948G>T (p.Arg1983Leu) | dbSNP gnomAD v4 |
16 | g.3729093C= | CA2202916216 | CREBBP | c.5954G= (p.Arg1985=) c.5840G= (p.Arg1947=) c.5909G= (p.Arg1970=) c.5537G= (p.Arg1846=) c.5693G= (p.Arg1898=) c.5900G= (p.Arg1967=) c.5201G= (p.Arg1734=) c.5948G= (p.Arg1983=) | |
16 | g.3729093C>G | CA394554845 | CREBBP | c.5954G>C (p.Arg1985Pro) c.5840G>C (p.Arg1947Pro) c.5909G>C (p.Arg1970Pro) c.5537G>C (p.Arg1846Pro) c.5693G>C (p.Arg1898Pro) c.5900G>C (p.Arg1967Pro) c.5201G>C (p.Arg1734Pro) c.5948G>C (p.Arg1983Pro) | |
16 | g.3729093C>T | CA394554847 | CREBBP | c.5954G>A (p.Arg1985His) c.5840G>A (p.Arg1947His) c.5909G>A (p.Arg1970His) c.5537G>A (p.Arg1846His) c.5693G>A (p.Arg1898His) c.5900G>A (p.Arg1967His) c.5201G>A (p.Arg1734His) c.5948G>A (p.Arg1983His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.3729094G>A | CA7869215 | CREBBP | c.5953C>T (p.Arg1985Cys) c.5839C>T (p.Arg1947Cys) c.5908C>T (p.Arg1970Cys) c.5536C>T (p.Arg1846Cys) c.5692C>T (p.Arg1898Cys) c.5899C>T (p.Arg1967Cys) c.5200C>T (p.Arg1734Cys) c.5947C>T (p.Arg1983Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3729094G>C | CA394554851 | CREBBP | c.5953C>G (p.Arg1985Gly) c.5839C>G (p.Arg1947Gly) c.5908C>G (p.Arg1970Gly) c.5536C>G (p.Arg1846Gly) c.5692C>G (p.Arg1898Gly) c.5899C>G (p.Arg1967Gly) c.5200C>G (p.Arg1734Gly) c.5947C>G (p.Arg1983Gly) | dbSNP |
16 | g.3729094G= | CA2202916217 | CREBBP | c.5953C= (p.Arg1985=) c.5839C= (p.Arg1947=) c.5908C= (p.Arg1970=) c.5536C= (p.Arg1846=) c.5692C= (p.Arg1898=) c.5899C= (p.Arg1967=) c.5200C= (p.Arg1734=) c.5947C= (p.Arg1983=) | |
16 | g.3729094G>T | CA394554848 | CREBBP | c.5953C>A (p.Arg1985Ser) c.5839C>A (p.Arg1947Ser) c.5908C>A (p.Arg1970Ser) c.5536C>A (p.Arg1846Ser) c.5692C>A (p.Arg1898Ser) c.5899C>A (p.Arg1967Ser) c.5200C>A (p.Arg1734Ser) c.5947C>A (p.Arg1983Ser) | gnomAD v4 |
16 | g.3729095T>A | CA493394276 | CREBBP | c.5952A>T (p.Gly1984=) c.5838A>T (p.Gly1946=) c.5907A>T (p.Gly1969=) c.5535A>T (p.Gly1845=) c.5691A>T (p.Gly1897=) c.5898A>T (p.Gly1966=) c.5199A>T (p.Gly1733=) c.5946A>T (p.Gly1982=) | dbSNP gnomAD v4 |
16 | g.3729095T>C | CA493394277 | CREBBP | c.5952A>G (p.Gly1984=) c.5838A>G (p.Gly1946=) c.5907A>G (p.Gly1969=) c.5535A>G (p.Gly1845=) c.5691A>G (p.Gly1897=) c.5898A>G (p.Gly1966=) c.5199A>G (p.Gly1733=) c.5946A>G (p.Gly1982=) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.3729095T>G | CA493394280 | CREBBP | c.5952A>C (p.Gly1984=) c.5838A>C (p.Gly1946=) c.5907A>C (p.Gly1969=) c.5535A>C (p.Gly1845=) c.5691A>C (p.Gly1897=) c.5898A>C (p.Gly1966=) c.5199A>C (p.Gly1733=) c.5946A>C (p.Gly1982=) | dbSNP |
16 | g.3729095T= | CA2202916218 | CREBBP | c.5952A= (p.Gly1984=) c.5838A= (p.Gly1946=) c.5907A= (p.Gly1969=) c.5535A= (p.Gly1845=) c.5691A= (p.Gly1897=) c.5898A= (p.Gly1966=) c.5199A= (p.Gly1733=) c.5946A= (p.Gly1982=) | |
16 | g.3729096C>A | CA394554852 | CREBBP | c.5951G>T (p.Gly1984Val) c.5837G>T (p.Gly1946Val) c.5906G>T (p.Gly1969Val) c.5534G>T (p.Gly1845Val) c.5690G>T (p.Gly1897Val) c.5897G>T (p.Gly1966Val) c.5198G>T (p.Gly1733Val) c.5945G>T (p.Gly1982Val) | gnomAD v4 |
16 | g.3729096C>G | CA394554854 | CREBBP | c.5951G>C (p.Gly1984Ala) c.5837G>C (p.Gly1946Ala) c.5906G>C (p.Gly1969Ala) c.5534G>C (p.Gly1845Ala) c.5690G>C (p.Gly1897Ala) c.5897G>C (p.Gly1966Ala) c.5198G>C (p.Gly1733Ala) c.5945G>C (p.Gly1982Ala) | dbSNP |
16 | g.3729096C>T | CA394554856 | CREBBP | c.5951G>A (p.Gly1984Glu) c.5837G>A (p.Gly1946Glu) c.5906G>A (p.Gly1969Glu) c.5534G>A (p.Gly1845Glu) c.5690G>A (p.Gly1897Glu) c.5897G>A (p.Gly1966Glu) c.5198G>A (p.Gly1733Glu) c.5945G>A (p.Gly1982Glu) | dbSNP |