Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.3758888_3758893delinsCGGAAACA2202944189CREBBPc.3330_3335delinsTTTCCG (p.Pro1110=)
c.3216_3221delinsTTTCCG (p.Pro1072=)
c.1935_1940delinsTTTCCG (p.Pro645=)
c.3285_3290delinsTTTCCG (p.Pro1095=)
c.2913_2918delinsTTTCCG (p.Pro971=)
c.3276_3281delinsTTTCCG (p.Pro1092=)
c.2577_2582delinsTTTCCG (p.Pro859=)
c.3324_3329delinsTTTCCG (p.Pro1108=)
16g.3758891_3758895delCA915949084CREBBPc.3330_3334del (p.Phe1111AlafsTer15)
c.3216_3220del (p.Phe1073AlafsTer15)
c.1935_1939del (p.Phe646AlafsTer15)
c.3285_3289del (p.Phe1096AlafsTer15)
c.2913_2917del (p.Phe972AlafsTer15)
c.3276_3280del (p.Phe1093AlafsTer15)
c.2577_2581del (p.Phe860AlafsTer15)
c.3324_3328del (p.Phe1109AlafsTer15)
 ClinVar dbSNP
16g.3758893A=CA2202944192CREBBPc.3330T= (p.Pro1110=)
c.3216T= (p.Pro1072=)
c.1935T= (p.Pro645=)
c.3285T= (p.Pro1095=)
c.2913T= (p.Pro971=)
c.3276T= (p.Pro1092=)
c.2577T= (p.Pro859=)
c.3324T= (p.Pro1108=)
16g.3758893A>CCA493285367CREBBPc.3330T>G (p.Pro1110=)
c.3216T>G (p.Pro1072=)
c.1935T>G (p.Pro645=)
c.3285T>G (p.Pro1095=)
c.2913T>G (p.Pro971=)
c.3276T>G (p.Pro1092=)
c.2577T>G (p.Pro859=)
c.3324T>G (p.Pro1108=)
16g.3758893A>GCA7869851CREBBPc.3330T>C (p.Pro1110=)
c.3216T>C (p.Pro1072=)
c.1935T>C (p.Pro645=)
c.3285T>C (p.Pro1095=)
c.2913T>C (p.Pro971=)
c.3276T>C (p.Pro1092=)
c.2577T>C (p.Pro859=)
c.3324T>C (p.Pro1108=)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.3758893A>TCA493285370CREBBPc.3330T>A (p.Pro1110=)
c.3216T>A (p.Pro1072=)
c.1935T>A (p.Pro645=)
c.3285T>A (p.Pro1095=)
c.2913T>A (p.Pro971=)
c.3276T>A (p.Pro1092=)
c.2577T>A (p.Pro859=)
c.3324T>A (p.Pro1108=)
16g.3758894G>ACA394569501CREBBPc.3329C>T (p.Pro1110Leu)
c.3215C>T (p.Pro1072Leu)
c.1934C>T (p.Pro645Leu)
c.3284C>T (p.Pro1095Leu)
c.2912C>T (p.Pro971Leu)
c.3275C>T (p.Pro1092Leu)
c.2576C>T (p.Pro859Leu)
c.3323C>T (p.Pro1108Leu)
 COSMIC
16g.3758894G>CCA394569502CREBBPc.3329C>G (p.Pro1110Arg)
c.3215C>G (p.Pro1072Arg)
c.1934C>G (p.Pro645Arg)
c.3284C>G (p.Pro1095Arg)
c.2912C>G (p.Pro971Arg)
c.3275C>G (p.Pro1092Arg)
c.2576C>G (p.Pro859Arg)
c.3323C>G (p.Pro1108Arg)
 COSMIC
16g.3758894G>TCA394569503CREBBPc.3329C>A (p.Pro1110His)
c.3215C>A (p.Pro1072His)
c.1934C>A (p.Pro645His)
c.3284C>A (p.Pro1095His)
c.2912C>A (p.Pro971His)
c.3275C>A (p.Pro1092His)
c.2576C>A (p.Pro859His)
c.3323C>A (p.Pro1108His)
16g.3758895G>ACA394569504CREBBPc.3328C>T (p.Pro1110Ser)
c.3214C>T (p.Pro1072Ser)
c.1933C>T (p.Pro645Ser)
c.3283C>T (p.Pro1095Ser)
c.2911C>T (p.Pro971Ser)
c.3274C>T (p.Pro1092Ser)
c.2575C>T (p.Pro859Ser)
c.3322C>T (p.Pro1108Ser)
16g.3758895G>CCA394569505CREBBPc.3328C>G (p.Pro1110Ala)
c.3214C>G (p.Pro1072Ala)
c.1933C>G (p.Pro645Ala)
c.3283C>G (p.Pro1095Ala)
c.2911C>G (p.Pro971Ala)
c.3274C>G (p.Pro1092Ala)
c.2575C>G (p.Pro859Ala)
c.3322C>G (p.Pro1108Ala)
16g.3758895G>TCA394569506CREBBPc.3328C>A (p.Pro1110Thr)
c.3214C>A (p.Pro1072Thr)
c.1933C>A (p.Pro645Thr)
c.3283C>A (p.Pro1095Thr)
c.2911C>A (p.Pro971Thr)
c.3274C>A (p.Pro1092Thr)
c.2575C>A (p.Pro859Thr)
c.3322C>A (p.Pro1108Thr)
16g.3758896T>ACA394569507CREBBPc.3327A>T (p.Leu1109Phe)
c.3213A>T (p.Leu1071Phe)
c.1932A>T (p.Leu644Phe)
c.3282A>T (p.Leu1094Phe)
c.2910A>T (p.Leu970Phe)
c.3273A>T (p.Leu1091Phe)
c.2574A>T (p.Leu858Phe)
c.3321A>T (p.Leu1107Phe)
16g.3758896T>CCA493285380CREBBPc.3327A>G (p.Leu1109=)
c.3213A>G (p.Leu1071=)
c.1932A>G (p.Leu644=)
c.3282A>G (p.Leu1094=)
c.2910A>G (p.Leu970=)
c.3273A>G (p.Leu1091=)
c.2574A>G (p.Leu858=)
c.3321A>G (p.Leu1107=)
16g.3758896T>GCA394569508CREBBPc.3327A>C (p.Leu1109Phe)
c.3213A>C (p.Leu1071Phe)
c.1932A>C (p.Leu644Phe)
c.3282A>C (p.Leu1094Phe)
c.2910A>C (p.Leu970Phe)
c.3273A>C (p.Leu1091Phe)
c.2574A>C (p.Leu858Phe)
c.3321A>C (p.Leu1107Phe)
 dbSNP
16g.3758896T=CA2202944193CREBBPc.3327A= (p.Leu1109=)
c.3213A= (p.Leu1071=)
c.1932A= (p.Leu644=)
c.3282A= (p.Leu1094=)
c.2910A= (p.Leu970=)
c.3273A= (p.Leu1091=)
c.2574A= (p.Leu858=)
c.3321A= (p.Leu1107=)
16g.3758897A>CCA394569510CREBBPc.3326T>G (p.Leu1109Ter)
c.3212T>G (p.Leu1071Ter)
c.1931T>G (p.Leu644Ter)
c.3281T>G (p.Leu1094Ter)
c.2909T>G (p.Leu970Ter)
c.3272T>G (p.Leu1091Ter)
c.2573T>G (p.Leu858Ter)
c.3320T>G (p.Leu1107Ter)
16g.3758897A>GCA394569511CREBBPc.3326T>C (p.Leu1109Ser)
c.3212T>C (p.Leu1071Ser)
c.1931T>C (p.Leu644Ser)
c.3281T>C (p.Leu1094Ser)
c.2909T>C (p.Leu970Ser)
c.3272T>C (p.Leu1091Ser)
c.2573T>C (p.Leu858Ser)
c.3320T>C (p.Leu1107Ser)
16g.3758897A>TCA394569509CREBBPc.3326T>A (p.Leu1109Ter)
c.3212T>A (p.Leu1071Ter)
c.1931T>A (p.Leu644Ter)
c.3281T>A (p.Leu1094Ter)
c.2909T>A (p.Leu970Ter)
c.3272T>A (p.Leu1091Ter)
c.2573T>A (p.Leu858Ter)
c.3320T>A (p.Leu1107Ter)
 COSMIC
16g.3758898A>CCA394569512CREBBPc.3325T>G (p.Leu1109Val)
c.3211T>G (p.Leu1071Val)
c.1930T>G (p.Leu644Val)
c.3280T>G (p.Leu1094Val)
c.2908T>G (p.Leu970Val)
c.3271T>G (p.Leu1091Val)
c.2572T>G (p.Leu858Val)
c.3319T>G (p.Leu1107Val)
16g.3758898A>GCA493285385CREBBPc.3325T>C (p.Leu1109=)
c.3211T>C (p.Leu1071=)
c.1930T>C (p.Leu644=)
c.3280T>C (p.Leu1094=)
c.2908T>C (p.Leu970=)
c.3271T>C (p.Leu1091=)
c.2572T>C (p.Leu858=)
c.3319T>C (p.Leu1107=)
16g.3758898A>TCA394569513CREBBPc.3325T>A (p.Leu1109Ile)
c.3211T>A (p.Leu1071Ile)
c.1930T>A (p.Leu644Ile)
c.3280T>A (p.Leu1094Ile)
c.2908T>A (p.Leu970Ile)
c.3271T>A (p.Leu1091Ile)
c.2572T>A (p.Leu858Ile)
c.3319T>A (p.Leu1107Ile)
16g.3758899T>ACA493285386CREBBPc.3324A>T (p.Ser1108=)
c.3210A>T (p.Ser1070=)
c.1929A>T (p.Ser643=)
c.3279A>T (p.Ser1093=)
c.2907A>T (p.Ser969=)
c.3270A>T (p.Ser1090=)
c.2571A>T (p.Ser857=)
c.3318A>T (p.Ser1106=)
16g.3758899T>CCA493285387CREBBPc.3324A>G (p.Ser1108=)
c.3210A>G (p.Ser1070=)
c.1929A>G (p.Ser643=)
c.3279A>G (p.Ser1093=)
c.2907A>G (p.Ser969=)
c.3270A>G (p.Ser1090=)
c.2571A>G (p.Ser857=)
c.3318A>G (p.Ser1106=)
 gnomAD v4
16g.3758899T>GCA493285388CREBBPc.3324A>C (p.Ser1108=)
c.3210A>C (p.Ser1070=)
c.1929A>C (p.Ser643=)
c.3279A>C (p.Ser1093=)
c.2907A>C (p.Ser969=)
c.3270A>C (p.Ser1090=)
c.2571A>C (p.Ser857=)
c.3318A>C (p.Ser1106=)
16g.3758900G>ACA394569514CREBBPc.3323C>T (p.Ser1108Leu)
c.3209C>T (p.Ser1070Leu)
c.1928C>T (p.Ser643Leu)
c.3278C>T (p.Ser1093Leu)
c.2906C>T (p.Ser969Leu)
c.3269C>T (p.Ser1090Leu)
c.2570C>T (p.Ser857Leu)
c.3317C>T (p.Ser1106Leu)
 COSMIC
16g.3758900G>CCA394569515CREBBPc.3323C>G (p.Ser1108Ter)
c.3209C>G (p.Ser1070Ter)
c.1928C>G (p.Ser643Ter)
c.3278C>G (p.Ser1093Ter)
c.2906C>G (p.Ser969Ter)
c.3269C>G (p.Ser1090Ter)
c.2570C>G (p.Ser857Ter)
c.3317C>G (p.Ser1106Ter)
16g.3758900G>TCA394569516CREBBPc.3323C>A (p.Ser1108Ter)
c.3209C>A (p.Ser1070Ter)
c.1928C>A (p.Ser643Ter)
c.3278C>A (p.Ser1093Ter)
c.2906C>A (p.Ser969Ter)
c.3269C>A (p.Ser1090Ter)
c.2570C>A (p.Ser857Ter)
c.3317C>A (p.Ser1106Ter)
 COSMIC
16g.3758901A>CCA394569519CREBBPc.3322T>G (p.Ser1108Ala)
c.3208T>G (p.Ser1070Ala)
c.1927T>G (p.Ser643Ala)
c.3277T>G (p.Ser1093Ala)
c.2905T>G (p.Ser969Ala)
c.3268T>G (p.Ser1090Ala)
c.2569T>G (p.Ser857Ala)
c.3316T>G (p.Ser1106Ala)
16g.3758901A>GCA394569517CREBBPc.3322T>C (p.Ser1108Pro)
c.3208T>C (p.Ser1070Pro)
c.1927T>C (p.Ser643Pro)
c.3277T>C (p.Ser1093Pro)
c.2905T>C (p.Ser969Pro)
c.3268T>C (p.Ser1090Pro)
c.2569T>C (p.Ser857Pro)
c.3316T>C (p.Ser1106Pro)
16g.3758901A>TCA394569518CREBBPc.3322T>A (p.Ser1108Thr)
c.3208T>A (p.Ser1070Thr)
c.1927T>A (p.Ser643Thr)
c.3277T>A (p.Ser1093Thr)
c.2905T>A (p.Ser969Thr)
c.3268T>A (p.Ser1090Thr)
c.2569T>A (p.Ser857Thr)
c.3316T>A (p.Ser1106Thr)
16g.3758902C>ACA394569520CREBBPc.3321G>T (p.Glu1107Asp)
c.3207G>T (p.Glu1069Asp)
c.1926G>T (p.Glu642Asp)
c.3276G>T (p.Glu1092Asp)
c.2904G>T (p.Glu968Asp)
c.3267G>T (p.Glu1089Asp)
c.2568G>T (p.Glu856Asp)
c.3315G>T (p.Glu1105Asp)
16g.3758902C>GCA394569521CREBBPc.3321G>C (p.Glu1107Asp)
c.3207G>C (p.Glu1069Asp)
c.1926G>C (p.Glu642Asp)
c.3276G>C (p.Glu1092Asp)
c.2904G>C (p.Glu968Asp)
c.3267G>C (p.Glu1089Asp)
c.2568G>C (p.Glu856Asp)
c.3315G>C (p.Glu1105Asp)
16g.3758902C>TCA493285389CREBBPc.3321G>A (p.Glu1107=)
c.3207G>A (p.Glu1069=)
c.1926G>A (p.Glu642=)
c.3276G>A (p.Glu1092=)
c.2904G>A (p.Glu968=)
c.3267G>A (p.Glu1089=)
c.2568G>A (p.Glu856=)
c.3315G>A (p.Glu1105=)
 COSMIC
16g.3758903T>ACA394569522CREBBPc.3320A>T (p.Glu1107Val)
c.3206A>T (p.Glu1069Val)
c.1925A>T (p.Glu642Val)
c.3275A>T (p.Glu1092Val)
c.2903A>T (p.Glu968Val)
c.3266A>T (p.Glu1089Val)
c.2567A>T (p.Glu856Val)
c.3314A>T (p.Glu1105Val)
16g.3758903T>CCA394569523CREBBPc.3320A>G (p.Glu1107Gly)
c.3206A>G (p.Glu1069Gly)
c.1925A>G (p.Glu642Gly)
c.3275A>G (p.Glu1092Gly)
c.2903A>G (p.Glu968Gly)
c.3266A>G (p.Glu1089Gly)
c.2567A>G (p.Glu856Gly)
c.3314A>G (p.Glu1105Gly)
16g.3758903T>GCA394569524CREBBPc.3320A>C (p.Glu1107Ala)
c.3206A>C (p.Glu1069Ala)
c.1925A>C (p.Glu642Ala)
c.3275A>C (p.Glu1092Ala)
c.2903A>C (p.Glu968Ala)
c.3266A>C (p.Glu1089Ala)
c.2567A>C (p.Glu856Ala)
c.3314A>C (p.Glu1105Ala)
16g.3758904C>ACA394569527CREBBPc.3319G>T (p.Glu1107Ter)
c.3205G>T (p.Glu1069Ter)
c.1924G>T (p.Glu642Ter)
c.3274G>T (p.Glu1092Ter)
c.2902G>T (p.Glu968Ter)
c.3265G>T (p.Glu1089Ter)
c.2566G>T (p.Glu856Ter)
c.3313G>T (p.Glu1105Ter)
16g.3758904C>GCA394569526CREBBPc.3319G>C (p.Glu1107Gln)
c.3205G>C (p.Glu1069Gln)
c.1924G>C (p.Glu642Gln)
c.3274G>C (p.Glu1092Gln)
c.2902G>C (p.Glu968Gln)
c.3265G>C (p.Glu1089Gln)
c.2566G>C (p.Glu856Gln)
c.3313G>C (p.Glu1105Gln)
16g.3758904C>TCA394569525CREBBPc.3319G>A (p.Glu1107Lys)
c.3205G>A (p.Glu1069Lys)
c.1924G>A (p.Glu642Lys)
c.3274G>A (p.Glu1092Lys)
c.2902G>A (p.Glu968Lys)
c.3265G>A (p.Glu1089Lys)
c.2566G>A (p.Glu856Lys)
c.3313G>A (p.Glu1105Lys)
16g.3758905T>ACA493285390CREBBPc.3318A>T (p.Pro1106=)
c.3204A>T (p.Pro1068=)
c.1923A>T (p.Pro641=)
c.3273A>T (p.Pro1091=)
c.2901A>T (p.Pro967=)
c.3264A>T (p.Pro1088=)
c.2565A>T (p.Pro855=)
c.3312A>T (p.Pro1104=)
16g.3758905T>CCA493285391CREBBPc.3318A>G (p.Pro1106=)
c.3204A>G (p.Pro1068=)
c.1923A>G (p.Pro641=)
c.3273A>G (p.Pro1091=)
c.2901A>G (p.Pro967=)
c.3264A>G (p.Pro1088=)
c.2565A>G (p.Pro855=)
c.3312A>G (p.Pro1104=)
16g.3758905T>GCA493285392CREBBPc.3318A>C (p.Pro1106=)
c.3204A>C (p.Pro1068=)
c.1923A>C (p.Pro641=)
c.3273A>C (p.Pro1091=)
c.2901A>C (p.Pro967=)
c.3264A>C (p.Pro1088=)
c.2565A>C (p.Pro855=)
c.3312A>C (p.Pro1104=)
16g.3758906G>ACA394569528CREBBPc.3317C>T (p.Pro1106Leu)
c.3203C>T (p.Pro1068Leu)
c.1922C>T (p.Pro641Leu)
c.3272C>T (p.Pro1091Leu)
c.2900C>T (p.Pro967Leu)
c.3263C>T (p.Pro1088Leu)
c.2564C>T (p.Pro855Leu)
c.3311C>T (p.Pro1104Leu)
16g.3758906G>CCA394569530CREBBPc.3317C>G (p.Pro1106Arg)
c.3203C>G (p.Pro1068Arg)
c.1922C>G (p.Pro641Arg)
c.3272C>G (p.Pro1091Arg)
c.2900C>G (p.Pro967Arg)
c.3263C>G (p.Pro1088Arg)
c.2564C>G (p.Pro855Arg)
c.3311C>G (p.Pro1104Arg)
16g.3758906G>TCA394569529CREBBPc.3317C>A (p.Pro1106Gln)
c.3203C>A (p.Pro1068Gln)
c.1922C>A (p.Pro641Gln)
c.3272C>A (p.Pro1091Gln)
c.2900C>A (p.Pro967Gln)
c.3263C>A (p.Pro1088Gln)
c.2564C>A (p.Pro855Gln)
c.3311C>A (p.Pro1104Gln)
16g.3758907G>ACA394569531CREBBPc.3316C>T (p.Pro1106Ser)
c.3202C>T (p.Pro1068Ser)
c.1921C>T (p.Pro641Ser)
c.3271C>T (p.Pro1091Ser)
c.2899C>T (p.Pro967Ser)
c.3262C>T (p.Pro1088Ser)
c.2563C>T (p.Pro855Ser)
c.3310C>T (p.Pro1104Ser)
16g.3758907G>CCA394569532CREBBPc.3316C>G (p.Pro1106Ala)
c.3202C>G (p.Pro1068Ala)
c.1921C>G (p.Pro641Ala)
c.3271C>G (p.Pro1091Ala)
c.2899C>G (p.Pro967Ala)
c.3262C>G (p.Pro1088Ala)
c.2563C>G (p.Pro855Ala)
c.3310C>G (p.Pro1104Ala)
16g.3758907G>TCA394569533CREBBPc.3316C>A (p.Pro1106Thr)
c.3202C>A (p.Pro1068Thr)
c.1921C>A (p.Pro641Thr)
c.3271C>A (p.Pro1091Thr)
c.2899C>A (p.Pro967Thr)
c.3262C>A (p.Pro1088Thr)
c.2563C>A (p.Pro855Thr)
c.3310C>A (p.Pro1104Thr)
16g.3758908G>ACA7869852CREBBPc.3315C>T (p.Asp1105=)
c.3201C>T (p.Asp1067=)
c.1920C>T (p.Asp640=)
c.3270C>T (p.Asp1090=)
c.2898C>T (p.Asp966=)
c.3261C>T (p.Asp1087=)
c.2562C>T (p.Asp854=)
c.3309C>T (p.Asp1103=)
 dbSNP ExAC gnomAD v2 gnomAD v4

Number of alleles fetched