Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.3770748_3770759delCA720703450CREBBPc.2697_2708del (p.Thr900_Pro903del)
c.2583_2594del (p.Thr862_Pro865del)
c.1302_1313del (p.Thr435_Pro438del)
c.2652_2663del (p.Thr885_Pro888del)
c.2464-1400_2464-1389del (n.2464-1400_2464-1389del)
c.2643_2654del (p.Thr882_Pro885del)
c.1944_1955del (p.Thr649_Pro652del)
c.2691_2702del (p.Thr898_Pro901del)
 dbSNP gnomAD v3 gnomAD v4
16g.3770754G>ACA394551138CREBBPc.2696C>T (p.Pro899Leu)
c.2582C>T (p.Pro861Leu)
c.1301C>T (p.Pro434Leu)
c.2651C>T (p.Pro884Leu)
c.2464-1401C>T (n.2464-1401C>T)
c.2642C>T (p.Pro881Leu)
c.1943C>T (p.Pro648Leu)
c.2690C>T (p.Pro897Leu)
 dbSNP
16g.3770754G>CCA394551140CREBBPc.2696C>G (p.Pro899Arg)
c.2582C>G (p.Pro861Arg)
c.1301C>G (p.Pro434Arg)
c.2651C>G (p.Pro884Arg)
c.2464-1401C>G (n.2464-1401C>G)
c.2642C>G (p.Pro881Arg)
c.1943C>G (p.Pro648Arg)
c.2690C>G (p.Pro897Arg)
 dbSNP
16g.3770754G>TCA394551141CREBBPc.2696C>A (p.Pro899His)
c.2582C>A (p.Pro861His)
c.1301C>A (p.Pro434His)
c.2651C>A (p.Pro884His)
c.2464-1401C>A (n.2464-1401C>A)
c.2642C>A (p.Pro881His)
c.1943C>A (p.Pro648His)
c.2690C>A (p.Pro897His)
 dbSNP
16g.3770755G>ACA394551143CREBBPc.2695C>T (p.Pro899Ser)
c.2581C>T (p.Pro861Ser)
c.1300C>T (p.Pro434Ser)
c.2650C>T (p.Pro884Ser)
c.2464-1402C>T (n.2464-1402C>T)
c.2641C>T (p.Pro881Ser)
c.1942C>T (p.Pro648Ser)
c.2689C>T (p.Pro897Ser)
 dbSNP gnomAD v2 gnomAD v4
16g.3770755G>CCA394551145CREBBPc.2695C>G (p.Pro899Ala)
c.2581C>G (p.Pro861Ala)
c.1300C>G (p.Pro434Ala)
c.2650C>G (p.Pro884Ala)
c.2464-1402C>G (n.2464-1402C>G)
c.2641C>G (p.Pro881Ala)
c.1942C>G (p.Pro648Ala)
c.2689C>G (p.Pro897Ala)
 ClinVar dbSNP gnomAD v3 gnomAD v4
16g.3770755G=CA2202950864CREBBPc.2695C= (p.Pro899=)
c.2581C= (p.Pro861=)
c.1300C= (p.Pro434=)
c.2650C= (p.Pro884=)
c.2464-1402C= (n.2464-1402C=)
c.2641C= (p.Pro881=)
c.1942C= (p.Pro648=)
c.2689C= (p.Pro897=)
16g.3770755G>TCA394551146CREBBPc.2695C>A (p.Pro899Thr)
c.2581C>A (p.Pro861Thr)
c.1300C>A (p.Pro434Thr)
c.2650C>A (p.Pro884Thr)
c.2464-1402C>A (n.2464-1402C>A)
c.2641C>A (p.Pro881Thr)
c.1942C>A (p.Pro648Thr)
c.2689C>A (p.Pro897Thr)
 dbSNP
16g.3770756A>CCA493394967CREBBPc.2694T>G (p.Thr898=)
c.2580T>G (p.Thr860=)
c.1299T>G (p.Thr433=)
c.2649T>G (p.Thr883=)
c.2464-1403T>G (n.2464-1403T>G)
c.2640T>G (p.Thr880=)
c.1941T>G (p.Thr647=)
c.2688T>G (p.Thr896=)
16g.3770756A>GCA493394968CREBBPc.2694T>C (p.Thr898=)
c.2580T>C (p.Thr860=)
c.1299T>C (p.Thr433=)
c.2649T>C (p.Thr883=)
c.2464-1403T>C (n.2464-1403T>C)
c.2640T>C (p.Thr880=)
c.1941T>C (p.Thr647=)
c.2688T>C (p.Thr896=)
 gnomAD v4
16g.3770756A>TCA493394969CREBBPc.2694T>A (p.Thr898=)
c.2580T>A (p.Thr860=)
c.1299T>A (p.Thr433=)
c.2649T>A (p.Thr883=)
c.2464-1403T>A (n.2464-1403T>A)
c.2640T>A (p.Thr880=)
c.1941T>A (p.Thr647=)
c.2688T>A (p.Thr896=)
 dbSNP
16g.3770757G>ACA394551148CREBBPc.2693C>T (p.Thr898Ile)
c.2579C>T (p.Thr860Ile)
c.1298C>T (p.Thr433Ile)
c.2648C>T (p.Thr883Ile)
c.2464-1404C>T (n.2464-1404C>T)
c.2639C>T (p.Thr880Ile)
c.1940C>T (p.Thr647Ile)
c.2687C>T (p.Thr896Ile)
 dbSNP
16g.3770757G>CCA394551150CREBBPc.2693C>G (p.Thr898Ser)
c.2579C>G (p.Thr860Ser)
c.1298C>G (p.Thr433Ser)
c.2648C>G (p.Thr883Ser)
c.2464-1404C>G (n.2464-1404C>G)
c.2639C>G (p.Thr880Ser)
c.1940C>G (p.Thr647Ser)
c.2687C>G (p.Thr896Ser)
 dbSNP
16g.3770757G>TCA394551151CREBBPc.2693C>A (p.Thr898Asn)
c.2579C>A (p.Thr860Asn)
c.1298C>A (p.Thr433Asn)
c.2648C>A (p.Thr883Asn)
c.2464-1404C>A (n.2464-1404C>A)
c.2639C>A (p.Thr880Asn)
c.1940C>A (p.Thr647Asn)
c.2687C>A (p.Thr896Asn)
16g.3770758T>ACA394551155CREBBPc.2692A>T (p.Thr898Ser)
c.2578A>T (p.Thr860Ser)
c.1297A>T (p.Thr433Ser)
c.2647A>T (p.Thr883Ser)
c.2464-1405A>T (n.2464-1405A>T)
c.2638A>T (p.Thr880Ser)
c.1939A>T (p.Thr647Ser)
c.2686A>T (p.Thr896Ser)
 dbSNP
16g.3770758T>CCA394551157CREBBPc.2692A>G (p.Thr898Ala)
c.2578A>G (p.Thr860Ala)
c.1297A>G (p.Thr433Ala)
c.2647A>G (p.Thr883Ala)
c.2464-1405A>G (n.2464-1405A>G)
c.2638A>G (p.Thr880Ala)
c.1939A>G (p.Thr647Ala)
c.2686A>G (p.Thr896Ala)
 dbSNP
16g.3770758T>GCA394551154CREBBPc.2692A>C (p.Thr898Pro)
c.2578A>C (p.Thr860Pro)
c.1297A>C (p.Thr433Pro)
c.2647A>C (p.Thr883Pro)
c.2464-1405A>C (n.2464-1405A>C)
c.2638A>C (p.Thr880Pro)
c.1939A>C (p.Thr647Pro)
c.2686A>C (p.Thr896Pro)
 dbSNP
16g.3770759C>ACA394551162CREBBPc.2691G>T (p.Gln897His)
c.2577G>T (p.Gln859His)
c.1296G>T (p.Gln432His)
c.2646G>T (p.Gln882His)
c.2464-1406G>T (n.2464-1406G>T)
c.2637G>T (p.Gln879His)
c.1938G>T (p.Gln646His)
c.2685G>T (p.Gln895His)
 dbSNP
16g.3770759C>GCA394551160CREBBPc.2691G>C (p.Gln897His)
c.2577G>C (p.Gln859His)
c.1296G>C (p.Gln432His)
c.2646G>C (p.Gln882His)
c.2464-1406G>C (n.2464-1406G>C)
c.2637G>C (p.Gln879His)
c.1938G>C (p.Gln646His)
c.2685G>C (p.Gln895His)
 dbSNP
16g.3770759C>TCA493394973CREBBPc.2691G>A (p.Gln897=)
c.2577G>A (p.Gln859=)
c.1296G>A (p.Gln432=)
c.2646G>A (p.Gln882=)
c.2464-1406G>A (n.2464-1406G>A)
c.2637G>A (p.Gln879=)
c.1938G>A (p.Gln646=)
c.2685G>A (p.Gln895=)
 dbSNP
16g.3770759_3770771delinsCTGCCCGGAAGACCA2202950865CREBBPc.2679_2691delinsGTCTTCCGGGCAG (p.Ser893=)
c.2565_2577delinsGTCTTCCGGGCAG (p.Ser855=)
c.1284_1296delinsGTCTTCCGGGCAG (p.Ser428=)
c.2634_2646delinsGTCTTCCGGGCAG (p.Ser878=)
c.2464-1418_2464-1406delinsGTCTTCCGGGCAG (n.2464-1418_2464-1406delinsGTCTTCCGGGCAG)
c.2625_2637delinsGTCTTCCGGGCAG (p.Ser875=)
c.1926_1938delinsGTCTTCCGGGCAG (p.Ser642=)
c.2673_2685delinsGTCTTCCGGGCAG (p.Ser891=)
16g.3770760T>ACA394551164CREBBPc.2690A>T (p.Gln897Leu)
c.2576A>T (p.Gln859Leu)
c.1295A>T (p.Gln432Leu)
c.2645A>T (p.Gln882Leu)
c.2464-1407A>T (n.2464-1407A>T)
c.2636A>T (p.Gln879Leu)
c.1937A>T (p.Gln646Leu)
c.2684A>T (p.Gln895Leu)
 dbSNP
16g.3770760T>CCA394551166CREBBPc.2690A>G (p.Gln897Arg)
c.2576A>G (p.Gln859Arg)
c.1295A>G (p.Gln432Arg)
c.2645A>G (p.Gln882Arg)
c.2464-1407A>G (n.2464-1407A>G)
c.2636A>G (p.Gln879Arg)
c.1937A>G (p.Gln646Arg)
c.2684A>G (p.Gln895Arg)
 dbSNP
16g.3770760T>GCA394551168CREBBPc.2690A>C (p.Gln897Pro)
c.2576A>C (p.Gln859Pro)
c.1295A>C (p.Gln432Pro)
c.2645A>C (p.Gln882Pro)
c.2464-1407A>C (n.2464-1407A>C)
c.2636A>C (p.Gln879Pro)
c.1937A>C (p.Gln646Pro)
c.2684A>C (p.Gln895Pro)
 dbSNP
16g.3770760_3770771delinsGGCA277190CREBBPc.2679_2690delinsCC (p.Ser894ArgfsTer30)
c.2565_2576delinsCC (p.Ser856ArgfsTer30)
c.1284_1295delinsCC (p.Ser429ArgfsTer30)
c.2634_2645delinsCC (p.Ser879ArgfsTer30)
c.2464-1418_2464-1407delinsCC (n.2464-1418_2464-1407delinsCC)
c.2625_2636delinsCC (p.Ser876ArgfsTer30)
c.1926_1937delinsCC (p.Ser643ArgfsTer30)
c.2673_2684delinsCC (p.Ser892ArgfsTer30)
 ClinVar dbSNP
16g.3770761G>ACA394551170CREBBPc.2689C>T (p.Gln897Ter)
c.2575C>T (p.Gln859Ter)
c.1294C>T (p.Gln432Ter)
c.2644C>T (p.Gln882Ter)
c.2464-1408C>T (n.2464-1408C>T)
c.2635C>T (p.Gln879Ter)
c.1936C>T (p.Gln646Ter)
c.2683C>T (p.Gln895Ter)
 dbSNP
16g.3770761G>CCA394551172CREBBPc.2689C>G (p.Gln897Glu)
c.2575C>G (p.Gln859Glu)
c.1294C>G (p.Gln432Glu)
c.2644C>G (p.Gln882Glu)
c.2464-1408C>G (n.2464-1408C>G)
c.2635C>G (p.Gln879Glu)
c.1936C>G (p.Gln646Glu)
c.2683C>G (p.Gln895Glu)
 dbSNP
16g.3770761G>TCA394551174CREBBPc.2689C>A (p.Gln897Lys)
c.2575C>A (p.Gln859Lys)
c.1294C>A (p.Gln432Lys)
c.2644C>A (p.Gln882Lys)
c.2464-1408C>A (n.2464-1408C>A)
c.2635C>A (p.Gln879Lys)
c.1936C>A (p.Gln646Lys)
c.2683C>A (p.Gln895Lys)
 dbSNP
16g.3770762C>ACA493394977CREBBPc.2688G>T (p.Gly896=)
c.2574G>T (p.Gly858=)
c.1293G>T (p.Gly431=)
c.2643G>T (p.Gly881=)
c.2464-1409G>T (n.2464-1409G>T)
c.2634G>T (p.Gly878=)
c.1935G>T (p.Gly645=)
c.2682G>T (p.Gly894=)
 dbSNP
16g.3770762C>GCA493394979CREBBPc.2688G>C (p.Gly896=)
c.2574G>C (p.Gly858=)
c.1293G>C (p.Gly431=)
c.2643G>C (p.Gly881=)
c.2464-1409G>C (n.2464-1409G>C)
c.2634G>C (p.Gly878=)
c.1935G>C (p.Gly645=)
c.2682G>C (p.Gly894=)
 dbSNP
16g.3770762C>TCA493394981CREBBPc.2688G>A (p.Gly896=)
c.2574G>A (p.Gly858=)
c.1293G>A (p.Gly431=)
c.2643G>A (p.Gly881=)
c.2464-1409G>A (n.2464-1409G>A)
c.2634G>A (p.Gly878=)
c.1935G>A (p.Gly645=)
c.2682G>A (p.Gly894=)
 dbSNP COSMIC
16g.3770763C>ACA394551176CREBBPc.2687G>T (p.Gly896Val)
c.2573G>T (p.Gly858Val)
c.1292G>T (p.Gly431Val)
c.2642G>T (p.Gly881Val)
c.2464-1410G>T (n.2464-1410G>T)
c.2633G>T (p.Gly878Val)
c.1934G>T (p.Gly645Val)
c.2681G>T (p.Gly894Val)
 dbSNP
16g.3770763C>GCA394551177CREBBPc.2687G>C (p.Gly896Ala)
c.2573G>C (p.Gly858Ala)
c.1292G>C (p.Gly431Ala)
c.2642G>C (p.Gly881Ala)
c.2464-1410G>C (n.2464-1410G>C)
c.2633G>C (p.Gly878Ala)
c.1934G>C (p.Gly645Ala)
c.2681G>C (p.Gly894Ala)
 dbSNP
16g.3770763C>TCA394551178CREBBPc.2687G>A (p.Gly896Glu)
c.2573G>A (p.Gly858Glu)
c.1292G>A (p.Gly431Glu)
c.2642G>A (p.Gly881Glu)
c.2464-1410G>A (n.2464-1410G>A)
c.2633G>A (p.Gly878Glu)
c.1934G>A (p.Gly645Glu)
c.2681G>A (p.Gly894Glu)
 dbSNP
16g.3770764C>ACA394551180CREBBPc.2686G>T (p.Gly896Trp)
c.2572G>T (p.Gly858Trp)
c.1291G>T (p.Gly431Trp)
c.2641G>T (p.Gly881Trp)
c.2464-1411G>T (n.2464-1411G>T)
c.2632G>T (p.Gly878Trp)
c.1933G>T (p.Gly645Trp)
c.2680G>T (p.Gly894Trp)
 dbSNP
16g.3770764C=CA2202950867CREBBPc.2686G= (p.Gly896=)
c.2572G= (p.Gly858=)
c.1291G= (p.Gly431=)
c.2641G= (p.Gly881=)
c.2464-1411G= (n.2464-1411G=)
c.2632G= (p.Gly878=)
c.1933G= (p.Gly645=)
c.2680G= (p.Gly894=)
16g.3770764C>GCA7870049CREBBPc.2686G>C (p.Gly896Arg)
c.2572G>C (p.Gly858Arg)
c.1291G>C (p.Gly431Arg)
c.2641G>C (p.Gly881Arg)
c.2464-1411G>C (n.2464-1411G>C)
c.2632G>C (p.Gly878Arg)
c.1933G>C (p.Gly645Arg)
c.2680G>C (p.Gly894Arg)
 dbSNP ExAC gnomAD v4
16g.3770764C>TCA394551183CREBBPc.2686G>A (p.Gly896Arg)
c.2572G>A (p.Gly858Arg)
c.1291G>A (p.Gly431Arg)
c.2641G>A (p.Gly881Arg)
c.2464-1411G>A (n.2464-1411G>A)
c.2632G>A (p.Gly878Arg)
c.1933G>A (p.Gly645Arg)
c.2680G>A (p.Gly894Arg)
 dbSNP COSMIC
16g.3770764_3770765delinsCGCA2202950866CREBBPc.2685_2686delinsCG (p.Ser895=)
c.2571_2572delinsCG (p.Ser857=)
c.1290_1291delinsCG (p.Ser430=)
c.2640_2641delinsCG (p.Ser880=)
c.2464-1412_2464-1411delinsCG (n.2464-1412_2464-1411delinsCG)
c.2631_2632delinsCG (p.Ser877=)
c.1932_1933delinsCG (p.Ser644=)
c.2679_2680delinsCG (p.Ser893=)
16g.3770765G>ACA7870050CREBBPc.2685C>T (p.Ser895=)
c.2571C>T (p.Ser857=)
c.1290C>T (p.Ser430=)
c.2640C>T (p.Ser880=)
c.2464-1412C>T (n.2464-1412C>T)
c.2631C>T (p.Ser877=)
c.1932C>T (p.Ser644=)
c.2679C>T (p.Ser893=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3770765G>CCA493394985CREBBPc.2685C>G (p.Ser895=)
c.2571C>G (p.Ser857=)
c.1290C>G (p.Ser430=)
c.2640C>G (p.Ser880=)
c.2464-1412C>G (n.2464-1412C>G)
c.2631C>G (p.Ser877=)
c.1932C>G (p.Ser644=)
c.2679C>G (p.Ser893=)
 dbSNP
16g.3770765G=CA2202950868CREBBPc.2685C= (p.Ser895=)
c.2571C= (p.Ser857=)
c.1290C= (p.Ser430=)
c.2640C= (p.Ser880=)
c.2464-1412C= (n.2464-1412C=)
c.2631C= (p.Ser877=)
c.1932C= (p.Ser644=)
c.2679C= (p.Ser893=)
16g.3770765G>TCA493394987CREBBPc.2685C>A (p.Ser895=)
c.2571C>A (p.Ser857=)
c.1290C>A (p.Ser430=)
c.2640C>A (p.Ser880=)
c.2464-1412C>A (n.2464-1412C>A)
c.2631C>A (p.Ser877=)
c.1932C>A (p.Ser644=)
c.2679C>A (p.Ser893=)
 dbSNP
16g.3770766delCA275010CREBBPc.2685del (p.Gln897ArgfsTer?)
c.2571del (p.Gln859ArgfsTer?)
c.1290del (p.Gln432ArgfsTer?)
c.2640del (p.Gln882ArgfsTer?)
c.2464-1412del (n.2464-1412del)
c.2631del (p.Gln879ArgfsTer?)
c.1932del (p.Gln646ArgfsTer?)
c.2679del (p.Gln895ArgfsTer?)
 ClinVar dbSNP COSMIC
16g.3770766G>ACA394551187CREBBPc.2684C>T (p.Ser895Phe)
c.2570C>T (p.Ser857Phe)
c.1289C>T (p.Ser430Phe)
c.2639C>T (p.Ser880Phe)
c.2464-1413C>T (n.2464-1413C>T)
c.2630C>T (p.Ser877Phe)
c.1931C>T (p.Ser644Phe)
c.2678C>T (p.Ser893Phe)
 dbSNP
16g.3770766G>CCA394551188CREBBPc.2684C>G (p.Ser895Cys)
c.2570C>G (p.Ser857Cys)
c.1289C>G (p.Ser430Cys)
c.2639C>G (p.Ser880Cys)
c.2464-1413C>G (n.2464-1413C>G)
c.2630C>G (p.Ser877Cys)
c.1931C>G (p.Ser644Cys)
c.2678C>G (p.Ser893Cys)
 dbSNP
16g.3770766G>TCA394551190CREBBPc.2684C>A (p.Ser895Tyr)
c.2570C>A (p.Ser857Tyr)
c.1289C>A (p.Ser430Tyr)
c.2639C>A (p.Ser880Tyr)
c.2464-1413C>A (n.2464-1413C>A)
c.2630C>A (p.Ser877Tyr)
c.1931C>A (p.Ser644Tyr)
c.2678C>A (p.Ser893Tyr)
 dbSNP
16g.3770767A>CCA394551193CREBBPc.2683T>G (p.Ser895Ala)
c.2569T>G (p.Ser857Ala)
c.1288T>G (p.Ser430Ala)
c.2638T>G (p.Ser880Ala)
c.2464-1414T>G (n.2464-1414T>G)
c.2629T>G (p.Ser877Ala)
c.1930T>G (p.Ser644Ala)
c.2677T>G (p.Ser893Ala)
16g.3770767A>GCA394551194CREBBPc.2683T>C (p.Ser895Pro)
c.2569T>C (p.Ser857Pro)
c.1288T>C (p.Ser430Pro)
c.2638T>C (p.Ser880Pro)
c.2464-1414T>C (n.2464-1414T>C)
c.2629T>C (p.Ser877Pro)
c.1930T>C (p.Ser644Pro)
c.2677T>C (p.Ser893Pro)
 dbSNP
16g.3770767A>TCA394551195CREBBPc.2683T>A (p.Ser895Thr)
c.2569T>A (p.Ser857Thr)
c.1288T>A (p.Ser430Thr)
c.2638T>A (p.Ser880Thr)
c.2464-1414T>A (n.2464-1414T>A)
c.2629T>A (p.Ser877Thr)
c.1930T>A (p.Ser644Thr)
c.2677T>A (p.Ser893Thr)
 dbSNP
16g.3770768A=CA2202950870CREBBPc.2682T= (p.Ser894=)
c.2568T= (p.Ser856=)
c.1287T= (p.Ser429=)
c.2637T= (p.Ser879=)
c.2464-1415T= (n.2464-1415T=)
c.2628T= (p.Ser876=)
c.1929T= (p.Ser643=)
c.2676T= (p.Ser892=)
16g.3770768A>CCA493394993CREBBPc.2682T>G (p.Ser894=)
c.2568T>G (p.Ser856=)
c.1287T>G (p.Ser429=)
c.2637T>G (p.Ser879=)
c.2464-1415T>G (n.2464-1415T>G)
c.2628T>G (p.Ser876=)
c.1929T>G (p.Ser643=)
c.2676T>G (p.Ser892=)
16g.3770768A>GCA493394994CREBBPc.2682T>C (p.Ser894=)
c.2568T>C (p.Ser856=)
c.1287T>C (p.Ser429=)
c.2637T>C (p.Ser879=)
c.2464-1415T>C (n.2464-1415T>C)
c.2628T>C (p.Ser876=)
c.1929T>C (p.Ser643=)
c.2676T>C (p.Ser892=)
 dbSNP gnomAD v3 gnomAD v4
16g.3770768A>TCA493394995CREBBPc.2682T>A (p.Ser894=)
c.2568T>A (p.Ser856=)
c.1287T>A (p.Ser429=)
c.2637T>A (p.Ser879=)
c.2464-1415T>A (n.2464-1415T>A)
c.2628T>A (p.Ser876=)
c.1929T>A (p.Ser643=)
c.2676T>A (p.Ser892=)
 dbSNP
16g.3770768_3770771delinsAGACCA2202950869CREBBPc.2679_2682delinsGTCT (p.Ser893=)
c.2565_2568delinsGTCT (p.Ser855=)
c.1284_1287delinsGTCT (p.Ser428=)
c.2634_2637delinsGTCT (p.Ser878=)
c.2464-1418_2464-1415delinsGTCT (n.2464-1418_2464-1415delinsGTCT)
c.2625_2628delinsGTCT (p.Ser875=)
c.1926_1929delinsGTCT (p.Ser642=)
c.2673_2676delinsGTCT (p.Ser891=)
16g.3770769G>ACA394551198CREBBPc.2681C>T (p.Ser894Phe)
c.2567C>T (p.Ser856Phe)
c.1286C>T (p.Ser429Phe)
c.2636C>T (p.Ser879Phe)
c.2464-1416C>T (n.2464-1416C>T)
c.2627C>T (p.Ser876Phe)
c.1928C>T (p.Ser643Phe)
c.2675C>T (p.Ser892Phe)
 dbSNP
16g.3770769G>CCA394551200CREBBPc.2681C>G (p.Ser894Cys)
c.2567C>G (p.Ser856Cys)
c.1286C>G (p.Ser429Cys)
c.2636C>G (p.Ser879Cys)
c.2464-1416C>G (n.2464-1416C>G)
c.2627C>G (p.Ser876Cys)
c.1928C>G (p.Ser643Cys)
c.2675C>G (p.Ser892Cys)
 dbSNP
16g.3770769G>TCA394551201CREBBPc.2681C>A (p.Ser894Tyr)
c.2567C>A (p.Ser856Tyr)
c.1286C>A (p.Ser429Tyr)
c.2636C>A (p.Ser879Tyr)
c.2464-1416C>A (n.2464-1416C>A)
c.2627C>A (p.Ser876Tyr)
c.1928C>A (p.Ser643Tyr)
c.2675C>A (p.Ser892Tyr)
 dbSNP
16g.3770772_3770774delCA7870051CREBBPc.2679_2681del (p.Ser894del)
c.2565_2567del (p.Ser856del)
c.1284_1286del (p.Ser429del)
c.2634_2636del (p.Ser879del)
c.2464-1418_2464-1416del (n.2464-1418_2464-1416del)
c.2625_2627del (p.Ser876del)
c.1926_1928del (p.Ser643del)
c.2673_2675del (p.Ser892del)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.3770770A>CCA394551203CREBBPc.2680T>G (p.Ser894Ala)
c.2566T>G (p.Ser856Ala)
c.1285T>G (p.Ser429Ala)
c.2635T>G (p.Ser879Ala)
c.2464-1417T>G (n.2464-1417T>G)
c.2626T>G (p.Ser876Ala)
c.1927T>G (p.Ser643Ala)
c.2674T>G (p.Ser892Ala)
 dbSNP
16g.3770770A>GCA394551205CREBBPc.2680T>C (p.Ser894Pro)
c.2566T>C (p.Ser856Pro)
c.1285T>C (p.Ser429Pro)
c.2635T>C (p.Ser879Pro)
c.2464-1417T>C (n.2464-1417T>C)
c.2626T>C (p.Ser876Pro)
c.1927T>C (p.Ser643Pro)
c.2674T>C (p.Ser892Pro)
 dbSNP
16g.3770770A>TCA394551207CREBBPc.2680T>A (p.Ser894Thr)
c.2566T>A (p.Ser856Thr)
c.1285T>A (p.Ser429Thr)
c.2635T>A (p.Ser879Thr)
c.2464-1417T>A (n.2464-1417T>A)
c.2626T>A (p.Ser876Thr)
c.1927T>A (p.Ser643Thr)
c.2674T>A (p.Ser892Thr)
 dbSNP
16g.3770771C>ACA493395000CREBBPc.2679G>T (p.Ser893=)
c.2565G>T (p.Ser855=)
c.1284G>T (p.Ser428=)
c.2634G>T (p.Ser878=)
c.2464-1418G>T (n.2464-1418G>T)
c.2625G>T (p.Ser875=)
c.1926G>T (p.Ser642=)
c.2673G>T (p.Ser891=)
 dbSNP
16g.3770771C=CA2202950871CREBBPc.2679G= (p.Ser893=)
c.2565G= (p.Ser855=)
c.1284G= (p.Ser428=)
c.2634G= (p.Ser878=)
c.2464-1418G= (n.2464-1418G=)
c.2625G= (p.Ser875=)
c.1926G= (p.Ser642=)
c.2673G= (p.Ser891=)
16g.3770771C>GCA493395001CREBBPc.2679G>C (p.Ser893=)
c.2565G>C (p.Ser855=)
c.1284G>C (p.Ser428=)
c.2634G>C (p.Ser878=)
c.2464-1418G>C (n.2464-1418G>C)
c.2625G>C (p.Ser875=)
c.1926G>C (p.Ser642=)
c.2673G>C (p.Ser891=)
 dbSNP
16g.3770771C>TCA271377CREBBPc.2679G>A (p.Ser893=)
c.2565G>A (p.Ser855=)
c.1284G>A (p.Ser428=)
c.2634G>A (p.Ser878=)
c.2464-1418G>A (n.2464-1418G>A)
c.2625G>A (p.Ser875=)
c.1926G>A (p.Ser642=)
c.2673G>A (p.Ser891=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.3770772G>ACA148111CREBBPc.2678C>T (p.Ser893Leu)
c.2564C>T (p.Ser855Leu)
c.1283C>T (p.Ser428Leu)
c.2633C>T (p.Ser878Leu)
c.2464-1419C>T (n.2464-1419C>T)
c.2624C>T (p.Ser875Leu)
c.1925C>T (p.Ser642Leu)
c.2672C>T (p.Ser891Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.3770772G>CCA276969058CREBBPc.2678C>G (p.Ser893Trp)
c.2564C>G (p.Ser855Trp)
c.1283C>G (p.Ser428Trp)
c.2633C>G (p.Ser878Trp)
c.2464-1419C>G (n.2464-1419C>G)
c.2624C>G (p.Ser875Trp)
c.1925C>G (p.Ser642Trp)
c.2672C>G (p.Ser891Trp)
 ClinVar dbSNP gnomAD v3 gnomAD v4
16g.3770772G=CA2202950872CREBBPc.2678C= (p.Ser893=)
c.2564C= (p.Ser855=)
c.1283C= (p.Ser428=)
c.2633C= (p.Ser878=)
c.2464-1419C= (n.2464-1419C=)
c.2624C= (p.Ser875=)
c.1925C= (p.Ser642=)
c.2672C= (p.Ser891=)
16g.3770772G>TCA394551211CREBBPc.2678C>A (p.Ser893Ter)
c.2564C>A (p.Ser855Ter)
c.1283C>A (p.Ser428Ter)
c.2633C>A (p.Ser878Ter)
c.2464-1419C>A (n.2464-1419C>A)
c.2624C>A (p.Ser875Ter)
c.1925C>A (p.Ser642Ter)
c.2672C>A (p.Ser891Ter)
 COSMIC
16g.3770773A>CCA394551214CREBBPc.2677T>G (p.Ser893Ala)
c.2563T>G (p.Ser855Ala)
c.1282T>G (p.Ser428Ala)
c.2632T>G (p.Ser878Ala)
c.2464-1420T>G (n.2464-1420T>G)
c.2623T>G (p.Ser875Ala)
c.1924T>G (p.Ser642Ala)
c.2671T>G (p.Ser891Ala)
 dbSNP
16g.3770773A>GCA394551216CREBBPc.2677T>C (p.Ser893Pro)
c.2563T>C (p.Ser855Pro)
c.1282T>C (p.Ser428Pro)
c.2632T>C (p.Ser878Pro)
c.2464-1420T>C (n.2464-1420T>C)
c.2623T>C (p.Ser875Pro)
c.1924T>C (p.Ser642Pro)
c.2671T>C (p.Ser891Pro)
 dbSNP
16g.3770773A>TCA394551217CREBBPc.2677T>A (p.Ser893Thr)
c.2563T>A (p.Ser855Thr)
c.1282T>A (p.Ser428Thr)
c.2632T>A (p.Ser878Thr)
c.2464-1420T>A (n.2464-1420T>A)
c.2623T>A (p.Ser875Thr)
c.1924T>A (p.Ser642Thr)
c.2671T>A (p.Ser891Thr)
 dbSNP
16g.3770774C>ACA493395005CREBBPc.2676G>T (p.Val892=)
c.2562G>T (p.Val854=)
c.1281G>T (p.Val427=)
c.2631G>T (p.Val877=)
c.2464-1421G>T (n.2464-1421G>T)
c.2622G>T (p.Val874=)
c.1923G>T (p.Val641=)
c.2670G>T (p.Val890=)
 dbSNP
16g.3770774C>GCA493395006CREBBPc.2676G>C (p.Val892=)
c.2562G>C (p.Val854=)
c.1281G>C (p.Val427=)
c.2631G>C (p.Val877=)
c.2464-1421G>C (n.2464-1421G>C)
c.2622G>C (p.Val874=)
c.1923G>C (p.Val641=)
c.2670G>C (p.Val890=)
 dbSNP
16g.3770774C>TCA493395007CREBBPc.2676G>A (p.Val892=)
c.2562G>A (p.Val854=)
c.1281G>A (p.Val427=)
c.2631G>A (p.Val877=)
c.2464-1421G>A (n.2464-1421G>A)
c.2622G>A (p.Val874=)
c.1923G>A (p.Val641=)
c.2670G>A (p.Val890=)
 dbSNP
16g.3770775A=CA2202950873CREBBPc.2675T= (p.Val892=)
c.2561T= (p.Val854=)
c.1280T= (p.Val427=)
c.2630T= (p.Val877=)
c.2464-1422T= (n.2464-1422T=)
c.2621T= (p.Val874=)
c.1922T= (p.Val641=)
c.2669T= (p.Val890=)
16g.3770775A>CCA394551223CREBBPc.2675T>G (p.Val892Gly)
c.2561T>G (p.Val854Gly)
c.1280T>G (p.Val427Gly)
c.2630T>G (p.Val877Gly)
c.2464-1422T>G (n.2464-1422T>G)
c.2621T>G (p.Val874Gly)
c.1922T>G (p.Val641Gly)
c.2669T>G (p.Val890Gly)
 dbSNP gnomAD v2 gnomAD v4
16g.3770775A>GCA394551222CREBBPc.2675T>C (p.Val892Ala)
c.2561T>C (p.Val854Ala)
c.1280T>C (p.Val427Ala)
c.2630T>C (p.Val877Ala)
c.2464-1422T>C (n.2464-1422T>C)
c.2621T>C (p.Val874Ala)
c.1922T>C (p.Val641Ala)
c.2669T>C (p.Val890Ala)
 ClinVar dbSNP
16g.3770775A>TCA394551220CREBBPc.2675T>A (p.Val892Glu)
c.2561T>A (p.Val854Glu)
c.1280T>A (p.Val427Glu)
c.2630T>A (p.Val877Glu)
c.2464-1422T>A (n.2464-1422T>A)
c.2621T>A (p.Val874Glu)
c.1922T>A (p.Val641Glu)
c.2669T>A (p.Val890Glu)
 dbSNP
16g.3770776C>ACA394551225CREBBPc.2674G>T (p.Val892Leu)
c.2560G>T (p.Val854Leu)
c.1279G>T (p.Val427Leu)
c.2629G>T (p.Val877Leu)
c.2464-1423G>T (n.2464-1423G>T)
c.2620G>T (p.Val874Leu)
c.1921G>T (p.Val641Leu)
c.2668G>T (p.Val890Leu)
 dbSNP
16g.3770776C>GCA394551227CREBBPc.2674G>C (p.Val892Leu)
c.2560G>C (p.Val854Leu)
c.1279G>C (p.Val427Leu)
c.2629G>C (p.Val877Leu)
c.2464-1423G>C (n.2464-1423G>C)
c.2620G>C (p.Val874Leu)
c.1921G>C (p.Val641Leu)
c.2668G>C (p.Val890Leu)
 gnomAD v4
16g.3770776C>TCA394551229CREBBPc.2674G>A (p.Val892Met)
c.2560G>A (p.Val854Met)
c.1279G>A (p.Val427Met)
c.2629G>A (p.Val877Met)
c.2464-1423G>A (n.2464-1423G>A)
c.2620G>A (p.Val874Met)
c.1921G>A (p.Val641Met)
c.2668G>A (p.Val890Met)
 gnomAD v4
16g.3770777A>CCA493395008CREBBPc.2673T>G (p.Pro891=)
c.2559T>G (p.Pro853=)
c.1278T>G (p.Pro426=)
c.2628T>G (p.Pro876=)
c.2464-1424T>G (n.2464-1424T>G)
c.2619T>G (p.Pro873=)
c.1920T>G (p.Pro640=)
c.2667T>G (p.Pro889=)
 dbSNP
16g.3770777A>GCA493395009CREBBPc.2673T>C (p.Pro891=)
c.2559T>C (p.Pro853=)
c.1278T>C (p.Pro426=)
c.2628T>C (p.Pro876=)
c.2464-1424T>C (n.2464-1424T>C)
c.2619T>C (p.Pro873=)
c.1920T>C (p.Pro640=)
c.2667T>C (p.Pro889=)
 dbSNP
16g.3770777A>TCA493395010CREBBPc.2673T>A (p.Pro891=)
c.2559T>A (p.Pro853=)
c.1278T>A (p.Pro426=)
c.2628T>A (p.Pro876=)
c.2464-1424T>A (n.2464-1424T>A)
c.2619T>A (p.Pro873=)
c.1920T>A (p.Pro640=)
c.2667T>A (p.Pro889=)
 dbSNP
16g.3770778G>ACA394551231CREBBPc.2672C>T (p.Pro891Leu)
c.2558C>T (p.Pro853Leu)
c.1277C>T (p.Pro426Leu)
c.2627C>T (p.Pro876Leu)
c.2464-1425C>T (n.2464-1425C>T)
c.2618C>T (p.Pro873Leu)
c.1919C>T (p.Pro640Leu)
c.2666C>T (p.Pro889Leu)
 dbSNP gnomAD v4
16g.3770778G>CCA394551233CREBBPc.2672C>G (p.Pro891Arg)
c.2558C>G (p.Pro853Arg)
c.1277C>G (p.Pro426Arg)
c.2627C>G (p.Pro876Arg)
c.2464-1425C>G (n.2464-1425C>G)
c.2618C>G (p.Pro873Arg)
c.1919C>G (p.Pro640Arg)
c.2666C>G (p.Pro889Arg)
 dbSNP
16g.3770778G>TCA394551235CREBBPc.2672C>A (p.Pro891His)
c.2558C>A (p.Pro853His)
c.1277C>A (p.Pro426His)
c.2627C>A (p.Pro876His)
c.2464-1425C>A (n.2464-1425C>A)
c.2618C>A (p.Pro873His)
c.1919C>A (p.Pro640His)
c.2666C>A (p.Pro889His)
 dbSNP gnomAD v4
16g.3770779G>ACA394551238CREBBPc.2671C>T (p.Pro891Ser)
c.2557C>T (p.Pro853Ser)
c.1276C>T (p.Pro426Ser)
c.2626C>T (p.Pro876Ser)
c.2464-1426C>T (n.2464-1426C>T)
c.2617C>T (p.Pro873Ser)
c.1918C>T (p.Pro640Ser)
c.2665C>T (p.Pro889Ser)
 dbSNP gnomAD v4
16g.3770779G>CCA394551241CREBBPc.2671C>G (p.Pro891Ala)
c.2557C>G (p.Pro853Ala)
c.1276C>G (p.Pro426Ala)
c.2626C>G (p.Pro876Ala)
c.2464-1426C>G (n.2464-1426C>G)
c.2617C>G (p.Pro873Ala)
c.1918C>G (p.Pro640Ala)
c.2665C>G (p.Pro889Ala)
 dbSNP
16g.3770779G>TCA394551239CREBBPc.2671C>A (p.Pro891Thr)
c.2557C>A (p.Pro853Thr)
c.1276C>A (p.Pro426Thr)
c.2626C>A (p.Pro876Thr)
c.2464-1426C>A (n.2464-1426C>A)
c.2617C>A (p.Pro873Thr)
c.1918C>A (p.Pro640Thr)
c.2665C>A (p.Pro889Thr)
 dbSNP
16g.3770780A=CA2202950874CREBBPc.2670T= (p.Thr890=)
c.2556T= (p.Thr852=)
c.1275T= (p.Thr425=)
c.2625T= (p.Thr875=)
c.2464-1427T= (n.2464-1427T=)
c.2616T= (p.Thr872=)
c.1917T= (p.Thr639=)
c.2664T= (p.Thr888=)
16g.3770780A>CCA493395011CREBBPc.2670T>G (p.Thr890=)
c.2556T>G (p.Thr852=)
c.1275T>G (p.Thr425=)
c.2625T>G (p.Thr875=)
c.2464-1427T>G (n.2464-1427T>G)
c.2616T>G (p.Thr872=)
c.1917T>G (p.Thr639=)
c.2664T>G (p.Thr888=)
 dbSNP
16g.3770780A>GCA493395012CREBBPc.2670T>C (p.Thr890=)
c.2556T>C (p.Thr852=)
c.1275T>C (p.Thr425=)
c.2625T>C (p.Thr875=)
c.2464-1427T>C (n.2464-1427T>C)
c.2616T>C (p.Thr872=)
c.1917T>C (p.Thr639=)
c.2664T>C (p.Thr888=)
 dbSNP
16g.3770780A>TCA493395013CREBBPc.2670T>A (p.Thr890=)
c.2556T>A (p.Thr852=)
c.1275T>A (p.Thr425=)
c.2625T>A (p.Thr875=)
c.2464-1427T>A (n.2464-1427T>A)
c.2616T>A (p.Thr872=)
c.1917T>A (p.Thr639=)
c.2664T>A (p.Thr888=)
 dbSNP
16g.3770781G>ACA394551243CREBBPc.2669C>T (p.Thr890Ile)
c.2555C>T (p.Thr852Ile)
c.1274C>T (p.Thr425Ile)
c.2624C>T (p.Thr875Ile)
c.2464-1428C>T (n.2464-1428C>T)
c.2615C>T (p.Thr872Ile)
c.1916C>T (p.Thr639Ile)
c.2663C>T (p.Thr888Ile)
 dbSNP
16g.3770781G>CCA394551244CREBBPc.2669C>G (p.Thr890Ser)
c.2555C>G (p.Thr852Ser)
c.1274C>G (p.Thr425Ser)
c.2624C>G (p.Thr875Ser)
c.2464-1428C>G (n.2464-1428C>G)
c.2615C>G (p.Thr872Ser)
c.1916C>G (p.Thr639Ser)
c.2663C>G (p.Thr888Ser)
 dbSNP
16g.3770781G>TCA394551246CREBBPc.2669C>A (p.Thr890Asn)
c.2555C>A (p.Thr852Asn)
c.1274C>A (p.Thr425Asn)
c.2624C>A (p.Thr875Asn)
c.2464-1428C>A (n.2464-1428C>A)
c.2615C>A (p.Thr872Asn)
c.1916C>A (p.Thr639Asn)
c.2663C>A (p.Thr888Asn)
 gnomAD v4
16g.3770782_3770784delCA645593154CREBBPc.2667_2669del (p.Thr890del)
c.2553_2555del (p.Thr852del)
c.1272_1274del (p.Thr425del)
c.2622_2624del (p.Thr875del)
c.2464-1430_2464-1428del (n.2464-1430_2464-1428del)
c.2613_2615del (p.Thr872del)
c.1914_1916del (p.Thr639del)
c.2661_2663del (p.Thr888del)
 COSMIC
16g.3770782T>ACA7870052CREBBPc.2668A>T (p.Thr890Ser)
c.2554A>T (p.Thr852Ser)
c.1273A>T (p.Thr425Ser)
c.2623A>T (p.Thr875Ser)
c.2464-1429A>T (n.2464-1429A>T)
c.2614A>T (p.Thr872Ser)
c.1915A>T (p.Thr639Ser)
c.2662A>T (p.Thr888Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.3770782T>CCA394551249CREBBPc.2668A>G (p.Thr890Ala)
c.2554A>G (p.Thr852Ala)
c.1273A>G (p.Thr425Ala)
c.2623A>G (p.Thr875Ala)
c.2464-1429A>G (n.2464-1429A>G)
c.2614A>G (p.Thr872Ala)
c.1915A>G (p.Thr639Ala)
c.2662A>G (p.Thr888Ala)
 dbSNP gnomAD v2 gnomAD v4
16g.3770782T>GCA7870053CREBBPc.2668A>C (p.Thr890Pro)
c.2554A>C (p.Thr852Pro)
c.1273A>C (p.Thr425Pro)
c.2623A>C (p.Thr875Pro)
c.2464-1429A>C (n.2464-1429A>C)
c.2614A>C (p.Thr872Pro)
c.1915A>C (p.Thr639Pro)
c.2662A>C (p.Thr888Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3770782T=CA2202950875CREBBPc.2668A= (p.Thr890=)
c.2554A= (p.Thr852=)
c.1273A= (p.Thr425=)
c.2623A= (p.Thr875=)
c.2464-1429A= (n.2464-1429A=)
c.2614A= (p.Thr872=)
c.1915A= (p.Thr639=)
c.2662A= (p.Thr888=)
16g.3770783T>ACA493395014CREBBPc.2667A>T (p.Ser889=)
c.2553A>T (p.Ser851=)
c.1272A>T (p.Ser424=)
c.2622A>T (p.Ser874=)
c.2464-1430A>T (n.2464-1430A>T)
c.2613A>T (p.Ser871=)
c.1914A>T (p.Ser638=)
c.2661A>T (p.Ser887=)
 dbSNP
16g.3770783T>CCA493395015CREBBPc.2667A>G (p.Ser889=)
c.2553A>G (p.Ser851=)
c.1272A>G (p.Ser424=)
c.2622A>G (p.Ser874=)
c.2464-1430A>G (n.2464-1430A>G)
c.2613A>G (p.Ser871=)
c.1914A>G (p.Ser638=)
c.2661A>G (p.Ser887=)
 dbSNP
16g.3770783T>GCA493395016CREBBPc.2667A>C (p.Ser889=)
c.2553A>C (p.Ser851=)
c.1272A>C (p.Ser424=)
c.2622A>C (p.Ser874=)
c.2464-1430A>C (n.2464-1430A>C)
c.2613A>C (p.Ser871=)
c.1914A>C (p.Ser638=)
c.2661A>C (p.Ser887=)
 dbSNP
16g.3770784G>ACA394551253CREBBPc.2666C>T (p.Ser889Leu)
c.2552C>T (p.Ser851Leu)
c.1271C>T (p.Ser424Leu)
c.2621C>T (p.Ser874Leu)
c.2464-1431C>T (n.2464-1431C>T)
c.2612C>T (p.Ser871Leu)
c.1913C>T (p.Ser638Leu)
c.2660C>T (p.Ser887Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.3770784G>CCA394551254CREBBPc.2666C>G (p.Ser889Ter)
c.2552C>G (p.Ser851Ter)
c.1271C>G (p.Ser424Ter)
c.2621C>G (p.Ser874Ter)
c.2464-1431C>G (n.2464-1431C>G)
c.2612C>G (p.Ser871Ter)
c.1913C>G (p.Ser638Ter)
c.2660C>G (p.Ser887Ter)
 dbSNP COSMIC
16g.3770784G=CA2202950876CREBBPc.2666C= (p.Ser889=)
c.2552C= (p.Ser851=)
c.1271C= (p.Ser424=)
c.2621C= (p.Ser874=)
c.2464-1431C= (n.2464-1431C=)
c.2612C= (p.Ser871=)
c.1913C= (p.Ser638=)
c.2660C= (p.Ser887=)
16g.3770784G>TCA394551256CREBBPc.2666C>A (p.Ser889Ter)
c.2552C>A (p.Ser851Ter)
c.1271C>A (p.Ser424Ter)
c.2621C>A (p.Ser874Ter)
c.2464-1431C>A (n.2464-1431C>A)
c.2612C>A (p.Ser871Ter)
c.1913C>A (p.Ser638Ter)
c.2660C>A (p.Ser887Ter)
 dbSNP
16g.3770785A=CA2202950877CREBBPc.2665T= (p.Ser889=)
c.2551T= (p.Ser851=)
c.1270T= (p.Ser424=)
c.2620T= (p.Ser874=)
c.2464-1432T= (n.2464-1432T=)
c.2611T= (p.Ser871=)
c.1912T= (p.Ser638=)
c.2659T= (p.Ser887=)
16g.3770785A>CCA394551259CREBBPc.2665T>G (p.Ser889Ala)
c.2551T>G (p.Ser851Ala)
c.1270T>G (p.Ser424Ala)
c.2620T>G (p.Ser874Ala)
c.2464-1432T>G (n.2464-1432T>G)
c.2611T>G (p.Ser871Ala)
c.1912T>G (p.Ser638Ala)
c.2659T>G (p.Ser887Ala)
 dbSNP
16g.3770785A>GCA7870054CREBBPc.2665T>C (p.Ser889Pro)
c.2551T>C (p.Ser851Pro)
c.1270T>C (p.Ser424Pro)
c.2620T>C (p.Ser874Pro)
c.2464-1432T>C (n.2464-1432T>C)
c.2611T>C (p.Ser871Pro)
c.1912T>C (p.Ser638Pro)
c.2659T>C (p.Ser887Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.3770785A>TCA394551261CREBBPc.2665T>A (p.Ser889Thr)
c.2551T>A (p.Ser851Thr)
c.1270T>A (p.Ser424Thr)
c.2620T>A (p.Ser874Thr)
c.2464-1432T>A (n.2464-1432T>A)
c.2611T>A (p.Ser871Thr)
c.1912T>A (p.Ser638Thr)
c.2659T>A (p.Ser887Thr)
 dbSNP
16g.3770786T>ACA493395017CREBBPc.2664A>T (p.Pro888=)
c.2550A>T (p.Pro850=)
c.1269A>T (p.Pro423=)
c.2619A>T (p.Pro873=)
c.2464-1433A>T (n.2464-1433A>T)
c.2610A>T (p.Pro870=)
c.1911A>T (p.Pro637=)
c.2658A>T (p.Pro886=)
16g.3770786T>CCA493395019CREBBPc.2664A>G (p.Pro888=)
c.2550A>G (p.Pro850=)
c.1269A>G (p.Pro423=)
c.2619A>G (p.Pro873=)
c.2464-1433A>G (n.2464-1433A>G)
c.2610A>G (p.Pro870=)
c.1911A>G (p.Pro637=)
c.2658A>G (p.Pro886=)
 ClinVar dbSNP gnomAD v4
16g.3770786T>GCA493395018CREBBPc.2664A>C (p.Pro888=)
c.2550A>C (p.Pro850=)
c.1269A>C (p.Pro423=)
c.2619A>C (p.Pro873=)
c.2464-1433A>C (n.2464-1433A>C)
c.2610A>C (p.Pro870=)
c.1911A>C (p.Pro637=)
c.2658A>C (p.Pro886=)
16g.3770786T=CA2202950878CREBBPc.2664A= (p.Pro888=)
c.2550A= (p.Pro850=)
c.1269A= (p.Pro423=)
c.2619A= (p.Pro873=)
c.2464-1433A= (n.2464-1433A=)
c.2610A= (p.Pro870=)
c.1911A= (p.Pro637=)
c.2658A= (p.Pro886=)
16g.3770787G>ACA7870055CREBBPc.2663C>T (p.Pro888Leu)
c.2549C>T (p.Pro850Leu)
c.1268C>T (p.Pro423Leu)
c.2618C>T (p.Pro873Leu)
c.2464-1434C>T (n.2464-1434C>T)
c.2609C>T (p.Pro870Leu)
c.1910C>T (p.Pro637Leu)
c.2657C>T (p.Pro886Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.3770787G>CCA394551266CREBBPc.2663C>G (p.Pro888Arg)
c.2549C>G (p.Pro850Arg)
c.1268C>G (p.Pro423Arg)
c.2618C>G (p.Pro873Arg)
c.2464-1434C>G (n.2464-1434C>G)
c.2609C>G (p.Pro870Arg)
c.1910C>G (p.Pro637Arg)
c.2657C>G (p.Pro886Arg)
 dbSNP gnomAD v4
16g.3770787G=CA2202950879CREBBPc.2663C= (p.Pro888=)
c.2549C= (p.Pro850=)
c.1268C= (p.Pro423=)
c.2618C= (p.Pro873=)
c.2464-1434C= (n.2464-1434C=)
c.2609C= (p.Pro870=)
c.1910C= (p.Pro637=)
c.2657C= (p.Pro886=)
16g.3770787G>TCA394551263CREBBPc.2663C>A (p.Pro888Gln)
c.2549C>A (p.Pro850Gln)
c.1268C>A (p.Pro423Gln)
c.2618C>A (p.Pro873Gln)
c.2464-1434C>A (n.2464-1434C>A)
c.2609C>A (p.Pro870Gln)
c.1910C>A (p.Pro637Gln)
c.2657C>A (p.Pro886Gln)
 dbSNP
16g.3770787_3770800dupCA2695222749CREBBPc.2650_2663dup (p.Ser889LeufsTer?)
c.2536_2549dup (p.Ser851LeufsTer?)
c.1255_1268dup (p.Ser424LeufsTer?)
c.2605_2618dup (p.Ser874LeufsTer?)
c.2464-1447_2464-1434dup (n.2464-1447_2464-1434dup)
c.2596_2609dup (p.Ser871LeufsTer?)
c.1897_1910dup (p.Ser638LeufsTer?)
c.2644_2657dup (p.Ser887LeufsTer?)
16g.3770788G>ACA394551270CREBBPc.2662C>T (p.Pro888Ser)
c.2548C>T (p.Pro850Ser)
c.1267C>T (p.Pro423Ser)
c.2617C>T (p.Pro873Ser)
c.2464-1435C>T (n.2464-1435C>T)
c.2608C>T (p.Pro870Ser)
c.1909C>T (p.Pro637Ser)
c.2656C>T (p.Pro886Ser)
 dbSNP gnomAD v4
16g.3770788G>CCA394551268CREBBPc.2662C>G (p.Pro888Ala)
c.2548C>G (p.Pro850Ala)
c.1267C>G (p.Pro423Ala)
c.2617C>G (p.Pro873Ala)
c.2464-1435C>G (n.2464-1435C>G)
c.2608C>G (p.Pro870Ala)
c.1909C>G (p.Pro637Ala)
c.2656C>G (p.Pro886Ala)
 dbSNP
16g.3770788G>TCA394551272CREBBPc.2662C>A (p.Pro888Thr)
c.2548C>A (p.Pro850Thr)
c.1267C>A (p.Pro423Thr)
c.2617C>A (p.Pro873Thr)
c.2464-1435C>A (n.2464-1435C>A)
c.2608C>A (p.Pro870Thr)
c.1909C>A (p.Pro637Thr)
c.2656C>A (p.Pro886Thr)
 dbSNP
16g.3770789C>ACA394551274CREBBPc.2661G>T (p.Gln887His)
c.2547G>T (p.Gln849His)
c.1266G>T (p.Gln422His)
c.2616G>T (p.Gln872His)
c.2464-1436G>T (n.2464-1436G>T)
c.2607G>T (p.Gln869His)
c.1908G>T (p.Gln636His)
c.2655G>T (p.Gln885His)
 dbSNP
16g.3770789C>GCA394551276CREBBPc.2661G>C (p.Gln887His)
c.2547G>C (p.Gln849His)
c.1266G>C (p.Gln422His)
c.2616G>C (p.Gln872His)
c.2464-1436G>C (n.2464-1436G>C)
c.2607G>C (p.Gln869His)
c.1908G>C (p.Gln636His)
c.2655G>C (p.Gln885His)
 dbSNP
16g.3770789C>TCA493395023CREBBPc.2661G>A (p.Gln887=)
c.2547G>A (p.Gln849=)
c.1266G>A (p.Gln422=)
c.2616G>A (p.Gln872=)
c.2464-1436G>A (n.2464-1436G>A)
c.2607G>A (p.Gln869=)
c.1908G>A (p.Gln636=)
c.2655G>A (p.Gln885=)
 dbSNP gnomAD v4
16g.3770790T>ACA394551277CREBBPc.2660A>T (p.Gln887Leu)
c.2546A>T (p.Gln849Leu)
c.1265A>T (p.Gln422Leu)
c.2615A>T (p.Gln872Leu)
c.2464-1437A>T (n.2464-1437A>T)
c.2606A>T (p.Gln869Leu)
c.1907A>T (p.Gln636Leu)
c.2654A>T (p.Gln885Leu)
 dbSNP
16g.3770790T>CCA394551281CREBBPc.2660A>G (p.Gln887Arg)
c.2546A>G (p.Gln849Arg)
c.1265A>G (p.Gln422Arg)
c.2615A>G (p.Gln872Arg)
c.2464-1437A>G (n.2464-1437A>G)
c.2606A>G (p.Gln869Arg)
c.1907A>G (p.Gln636Arg)
c.2654A>G (p.Gln885Arg)
 dbSNP
16g.3770790T>GCA394551279CREBBPc.2660A>C (p.Gln887Pro)
c.2546A>C (p.Gln849Pro)
c.1265A>C (p.Gln422Pro)
c.2615A>C (p.Gln872Pro)
c.2464-1437A>C (n.2464-1437A>C)
c.2606A>C (p.Gln869Pro)
c.1907A>C (p.Gln636Pro)
c.2654A>C (p.Gln885Pro)
 dbSNP
16g.3770791G>ACA16607300CREBBPc.2659C>T (p.Gln887Ter)
c.2545C>T (p.Gln849Ter)
c.1264C>T (p.Gln422Ter)
c.2614C>T (p.Gln872Ter)
c.2464-1438C>T (n.2464-1438C>T)
c.2605C>T (p.Gln869Ter)
c.1906C>T (p.Gln636Ter)
c.2653C>T (p.Gln885Ter)
 ClinVar dbSNP COSMIC
16g.3770791G>CCA394551284CREBBPc.2659C>G (p.Gln887Glu)
c.2545C>G (p.Gln849Glu)
c.1264C>G (p.Gln422Glu)
c.2614C>G (p.Gln872Glu)
c.2464-1438C>G (n.2464-1438C>G)
c.2605C>G (p.Gln869Glu)
c.1906C>G (p.Gln636Glu)
c.2653C>G (p.Gln885Glu)
 dbSNP
16g.3770791G=CA2202950880CREBBPc.2659C= (p.Gln887=)
c.2545C= (p.Gln849=)
c.1264C= (p.Gln422=)
c.2614C= (p.Gln872=)
c.2464-1438C= (n.2464-1438C=)
c.2605C= (p.Gln869=)
c.1906C= (p.Gln636=)
c.2653C= (p.Gln885=)
16g.3770791G>TCA394551285CREBBPc.2659C>A (p.Gln887Lys)
c.2545C>A (p.Gln849Lys)
c.1264C>A (p.Gln422Lys)
c.2614C>A (p.Gln872Lys)
c.2464-1438C>A (n.2464-1438C>A)
c.2605C>A (p.Gln869Lys)
c.1906C>A (p.Gln636Lys)
c.2653C>A (p.Gln885Lys)
 dbSNP
16g.3770792A=CA2202950881CREBBPc.2658T= (p.Thr886=)
c.2544T= (p.Thr848=)
c.1263T= (p.Thr421=)
c.2613T= (p.Thr871=)
c.2464-1439T= (n.2464-1439T=)
c.2604T= (p.Thr868=)
c.1905T= (p.Thr635=)
c.2652T= (p.Thr884=)
16g.3770792A>CCA493395025CREBBPc.2658T>G (p.Thr886=)
c.2544T>G (p.Thr848=)
c.1263T>G (p.Thr421=)
c.2613T>G (p.Thr871=)
c.2464-1439T>G (n.2464-1439T>G)
c.2604T>G (p.Thr868=)
c.1905T>G (p.Thr635=)
c.2652T>G (p.Thr884=)
16g.3770792A>GCA493395026CREBBPc.2658T>C (p.Thr886=)
c.2544T>C (p.Thr848=)
c.1263T>C (p.Thr421=)
c.2613T>C (p.Thr871=)
c.2464-1439T>C (n.2464-1439T>C)
c.2604T>C (p.Thr868=)
c.1905T>C (p.Thr635=)
c.2652T>C (p.Thr884=)
 dbSNP gnomAD v3 gnomAD v4
16g.3770792A>TCA493395027CREBBPc.2658T>A (p.Thr886=)
c.2544T>A (p.Thr848=)
c.1263T>A (p.Thr421=)
c.2613T>A (p.Thr871=)
c.2464-1439T>A (n.2464-1439T>A)
c.2604T>A (p.Thr868=)
c.1905T>A (p.Thr635=)
c.2652T>A (p.Thr884=)
 dbSNP
16g.3770793G>ACA394551287CREBBPc.2657C>T (p.Thr886Ile)
c.2543C>T (p.Thr848Ile)
c.1262C>T (p.Thr421Ile)
c.2612C>T (p.Thr871Ile)
c.2464-1440C>T (n.2464-1440C>T)
c.2603C>T (p.Thr868Ile)
c.1904C>T (p.Thr635Ile)
c.2651C>T (p.Thr884Ile)
16g.3770793G>CCA394551289CREBBPc.2657C>G (p.Thr886Ser)
c.2543C>G (p.Thr848Ser)
c.1262C>G (p.Thr421Ser)
c.2612C>G (p.Thr871Ser)
c.2464-1440C>G (n.2464-1440C>G)
c.2603C>G (p.Thr868Ser)
c.1904C>G (p.Thr635Ser)
c.2651C>G (p.Thr884Ser)
 gnomAD v4
16g.3770793G>TCA394551291CREBBPc.2657C>A (p.Thr886Asn)
c.2543C>A (p.Thr848Asn)
c.1262C>A (p.Thr421Asn)
c.2612C>A (p.Thr871Asn)
c.2464-1440C>A (n.2464-1440C>A)
c.2603C>A (p.Thr868Asn)
c.1904C>A (p.Thr635Asn)
c.2651C>A (p.Thr884Asn)
16g.3770794T>ACA394551293CREBBPc.2656A>T (p.Thr886Ser)
c.2542A>T (p.Thr848Ser)
c.1261A>T (p.Thr421Ser)
c.2611A>T (p.Thr871Ser)
c.2464-1441A>T (n.2464-1441A>T)
c.2602A>T (p.Thr868Ser)
c.1903A>T (p.Thr635Ser)
c.2650A>T (p.Thr884Ser)
16g.3770794T>CCA394551294CREBBPc.2656A>G (p.Thr886Ala)
c.2542A>G (p.Thr848Ala)
c.1261A>G (p.Thr421Ala)
c.2611A>G (p.Thr871Ala)
c.2464-1441A>G (n.2464-1441A>G)
c.2602A>G (p.Thr868Ala)
c.1903A>G (p.Thr635Ala)
c.2650A>G (p.Thr884Ala)
16g.3770794T>GCA394551295CREBBPc.2656A>C (p.Thr886Pro)
c.2542A>C (p.Thr848Pro)
c.1261A>C (p.Thr421Pro)
c.2611A>C (p.Thr871Pro)
c.2464-1441A>C (n.2464-1441A>C)
c.2602A>C (p.Thr868Pro)
c.1903A>C (p.Thr635Pro)
c.2650A>C (p.Thr884Pro)
16g.3770795G>ACA493395031CREBBPc.2655C>T (p.Pro885=)
c.2541C>T (p.Pro847=)
c.1260C>T (p.Pro420=)
c.2610C>T (p.Pro870=)
c.2464-1442C>T (n.2464-1442C>T)
c.2601C>T (p.Pro867=)
c.1902C>T (p.Pro634=)
c.2649C>T (p.Pro883=)
 dbSNP
16g.3770795G>CCA493395030CREBBPc.2655C>G (p.Pro885=)
c.2541C>G (p.Pro847=)
c.1260C>G (p.Pro420=)
c.2610C>G (p.Pro870=)
c.2464-1442C>G (n.2464-1442C>G)
c.2601C>G (p.Pro867=)
c.1902C>G (p.Pro634=)
c.2649C>G (p.Pro883=)
 dbSNP gnomAD v4
16g.3770795G=CA2202950882CREBBPc.2655C= (p.Pro885=)
c.2541C= (p.Pro847=)
c.1260C= (p.Pro420=)
c.2610C= (p.Pro870=)
c.2464-1442C= (n.2464-1442C=)
c.2601C= (p.Pro867=)
c.1902C= (p.Pro634=)
c.2649C= (p.Pro883=)
16g.3770795G>TCA493395029CREBBPc.2655C>A (p.Pro885=)
c.2541C>A (p.Pro847=)
c.1260C>A (p.Pro420=)
c.2610C>A (p.Pro870=)
c.2464-1442C>A (n.2464-1442C>A)
c.2601C>A (p.Pro867=)
c.1902C>A (p.Pro634=)
c.2649C>A (p.Pro883=)
 dbSNP
16g.3770796G>ACA394551297CREBBPc.2654C>T (p.Pro885Leu)
c.2540C>T (p.Pro847Leu)
c.1259C>T (p.Pro420Leu)
c.2609C>T (p.Pro870Leu)
c.2464-1443C>T (n.2464-1443C>T)
c.2600C>T (p.Pro867Leu)
c.1901C>T (p.Pro634Leu)
c.2648C>T (p.Pro883Leu)
 dbSNP COSMIC
16g.3770796G>CCA394551299CREBBPc.2654C>G (p.Pro885Arg)
c.2540C>G (p.Pro847Arg)
c.1259C>G (p.Pro420Arg)
c.2609C>G (p.Pro870Arg)
c.2464-1443C>G (n.2464-1443C>G)
c.2600C>G (p.Pro867Arg)
c.1901C>G (p.Pro634Arg)
c.2648C>G (p.Pro883Arg)
 dbSNP
16g.3770796G>TCA394551301CREBBPc.2654C>A (p.Pro885His)
c.2540C>A (p.Pro847His)
c.1259C>A (p.Pro420His)
c.2609C>A (p.Pro870His)
c.2464-1443C>A (n.2464-1443C>A)
c.2600C>A (p.Pro867His)
c.1901C>A (p.Pro634His)
c.2648C>A (p.Pro883His)
 dbSNP
16g.3770797G>ACA7870056CREBBPc.2653C>T (p.Pro885Ser)
c.2539C>T (p.Pro847Ser)
c.1258C>T (p.Pro420Ser)
c.2608C>T (p.Pro870Ser)
c.2464-1444C>T (n.2464-1444C>T)
c.2599C>T (p.Pro867Ser)
c.1900C>T (p.Pro634Ser)
c.2647C>T (p.Pro883Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.3770797G>CCA394551303CREBBPc.2653C>G (p.Pro885Ala)
c.2539C>G (p.Pro847Ala)
c.1258C>G (p.Pro420Ala)
c.2608C>G (p.Pro870Ala)
c.2464-1444C>G (n.2464-1444C>G)
c.2599C>G (p.Pro867Ala)
c.1900C>G (p.Pro634Ala)
c.2647C>G (p.Pro883Ala)
 dbSNP
16g.3770797G=CA2202950883CREBBPc.2653C= (p.Pro885=)
c.2539C= (p.Pro847=)
c.1258C= (p.Pro420=)
c.2608C= (p.Pro870=)
c.2464-1444C= (n.2464-1444C=)
c.2599C= (p.Pro867=)
c.1900C= (p.Pro634=)
c.2647C= (p.Pro883=)
16g.3770797G>TCA394551305CREBBPc.2653C>A (p.Pro885Thr)
c.2539C>A (p.Pro847Thr)
c.1258C>A (p.Pro420Thr)
c.2608C>A (p.Pro870Thr)
c.2464-1444C>A (n.2464-1444C>A)
c.2599C>A (p.Pro867Thr)
c.1900C>A (p.Pro634Thr)
c.2647C>A (p.Pro883Thr)
 dbSNP
16g.3770798A=CA2202950884CREBBPc.2652T= (p.Ala884=)
c.2538T= (p.Ala846=)
c.1257T= (p.Ala419=)
c.2607T= (p.Ala869=)
c.2464-1445T= (n.2464-1445T=)
c.2598T= (p.Ala866=)
c.1899T= (p.Ala633=)
c.2646T= (p.Ala882=)
16g.3770798A>CCA493395034CREBBPc.2652T>G (p.Ala884=)
c.2538T>G (p.Ala846=)
c.1257T>G (p.Ala419=)
c.2607T>G (p.Ala869=)
c.2464-1445T>G (n.2464-1445T>G)
c.2598T>G (p.Ala866=)
c.1899T>G (p.Ala633=)
c.2646T>G (p.Ala882=)
16g.3770798A>GCA276969069CREBBPc.2652T>C (p.Ala884=)
c.2538T>C (p.Ala846=)
c.1257T>C (p.Ala419=)
c.2607T>C (p.Ala869=)
c.2464-1445T>C (n.2464-1445T>C)
c.2598T>C (p.Ala866=)
c.1899T>C (p.Ala633=)
c.2646T>C (p.Ala882=)
 dbSNP
16g.3770798A>TCA493395035CREBBPc.2652T>A (p.Ala884=)
c.2538T>A (p.Ala846=)
c.1257T>A (p.Ala419=)
c.2607T>A (p.Ala869=)
c.2464-1445T>A (n.2464-1445T>A)
c.2598T>A (p.Ala866=)
c.1899T>A (p.Ala633=)
c.2646T>A (p.Ala882=)
 dbSNP
16g.3770799G>ACA394551309CREBBPc.2651C>T (p.Ala884Val)
c.2537C>T (p.Ala846Val)
c.1256C>T (p.Ala419Val)
c.2606C>T (p.Ala869Val)
c.2464-1446C>T (n.2464-1446C>T)
c.2597C>T (p.Ala866Val)
c.1898C>T (p.Ala633Val)
c.2645C>T (p.Ala882Val)
 dbSNP COSMIC
16g.3770799G>CCA394551311CREBBPc.2651C>G (p.Ala884Gly)
c.2537C>G (p.Ala846Gly)
c.1256C>G (p.Ala419Gly)
c.2606C>G (p.Ala869Gly)
c.2464-1446C>G (n.2464-1446C>G)
c.2597C>G (p.Ala866Gly)
c.1898C>G (p.Ala633Gly)
c.2645C>G (p.Ala882Gly)
 dbSNP gnomAD v4
16g.3770799G=CA2202950885CREBBPc.2651C= (p.Ala884=)
c.2537C= (p.Ala846=)
c.1256C= (p.Ala419=)
c.2606C= (p.Ala869=)
c.2464-1446C= (n.2464-1446C=)
c.2597C= (p.Ala866=)
c.1898C= (p.Ala633=)
c.2645C= (p.Ala882=)
16g.3770799G>TCA394551312CREBBPc.2651C>A (p.Ala884Asp)
c.2537C>A (p.Ala846Asp)
c.1256C>A (p.Ala419Asp)
c.2606C>A (p.Ala869Asp)
c.2464-1446C>A (n.2464-1446C>A)
c.2597C>A (p.Ala866Asp)
c.1898C>A (p.Ala633Asp)
c.2645C>A (p.Ala882Asp)
16g.3770800C>ACA394551315CREBBPc.2650G>T (p.Ala884Ser)
c.2536G>T (p.Ala846Ser)
c.1255G>T (p.Ala419Ser)
c.2605G>T (p.Ala869Ser)
c.2464-1447G>T (n.2464-1447G>T)
c.2596G>T (p.Ala866Ser)
c.1897G>T (p.Ala633Ser)
c.2644G>T (p.Ala882Ser)
 dbSNP
16g.3770800C>GCA394551317CREBBPc.2650G>C (p.Ala884Pro)
c.2536G>C (p.Ala846Pro)
c.1255G>C (p.Ala419Pro)
c.2605G>C (p.Ala869Pro)
c.2464-1447G>C (n.2464-1447G>C)
c.2596G>C (p.Ala866Pro)
c.1897G>C (p.Ala633Pro)
c.2644G>C (p.Ala882Pro)
 dbSNP
16g.3770800C>TCA394551318CREBBPc.2650G>A (p.Ala884Thr)
c.2536G>A (p.Ala846Thr)
c.1255G>A (p.Ala419Thr)
c.2605G>A (p.Ala869Thr)
c.2464-1447G>A (n.2464-1447G>A)
c.2596G>A (p.Ala866Thr)
c.1897G>A (p.Ala633Thr)
c.2644G>A (p.Ala882Thr)
 dbSNP gnomAD v4 COSMIC
16g.3770801T>ACA493395037CREBBPc.2649A>T (p.Ala883=)
c.2535A>T (p.Ala845=)
c.1254A>T (p.Ala418=)
c.2604A>T (p.Ala868=)
c.2464-1448A>T (n.2464-1448A>T)
c.2595A>T (p.Ala865=)
c.1896A>T (p.Ala632=)
c.2643A>T (p.Ala881=)
16g.3770801T>CCA493395038CREBBPc.2649A>G (p.Ala883=)
c.2535A>G (p.Ala845=)
c.1254A>G (p.Ala418=)
c.2604A>G (p.Ala868=)
c.2464-1448A>G (n.2464-1448A>G)
c.2595A>G (p.Ala865=)
c.1896A>G (p.Ala632=)
c.2643A>G (p.Ala881=)
16g.3770801T>GCA493395039CREBBPc.2649A>C (p.Ala883=)
c.2535A>C (p.Ala845=)
c.1254A>C (p.Ala418=)
c.2604A>C (p.Ala868=)
c.2464-1448A>C (n.2464-1448A>C)
c.2595A>C (p.Ala865=)
c.1896A>C (p.Ala632=)
c.2643A>C (p.Ala881=)
16g.3770802G>ACA394551321CREBBPc.2648C>T (p.Ala883Val)
c.2534C>T (p.Ala845Val)
c.1253C>T (p.Ala418Val)
c.2603C>T (p.Ala868Val)
c.2464-1449C>T (n.2464-1449C>T)
c.2594C>T (p.Ala865Val)
c.1895C>T (p.Ala632Val)
c.2642C>T (p.Ala881Val)
 dbSNP gnomAD v2 gnomAD v4
16g.3770802G>CCA394551323CREBBPc.2648C>G (p.Ala883Gly)
c.2534C>G (p.Ala845Gly)
c.1253C>G (p.Ala418Gly)
c.2603C>G (p.Ala868Gly)
c.2464-1449C>G (n.2464-1449C>G)
c.2594C>G (p.Ala865Gly)
c.1895C>G (p.Ala632Gly)
c.2642C>G (p.Ala881Gly)
 dbSNP
16g.3770802G=CA2202950886CREBBPc.2648C= (p.Ala883=)
c.2534C= (p.Ala845=)
c.1253C= (p.Ala418=)
c.2603C= (p.Ala868=)
c.2464-1449C= (n.2464-1449C=)
c.2594C= (p.Ala865=)
c.1895C= (p.Ala632=)
c.2642C= (p.Ala881=)
16g.3770802G>TCA394551325CREBBPc.2648C>A (p.Ala883Glu)
c.2534C>A (p.Ala845Glu)
c.1253C>A (p.Ala418Glu)
c.2603C>A (p.Ala868Glu)
c.2464-1449C>A (n.2464-1449C>A)
c.2594C>A (p.Ala865Glu)
c.1895C>A (p.Ala632Glu)
c.2642C>A (p.Ala881Glu)
 dbSNP gnomAD v4
16g.3770807_3770810delCA2731731188CREBBPc.2645_2648del (p.Pro882GlnfsTer?)
c.2531_2534del (p.Pro844GlnfsTer?)
c.1250_1253del (p.Pro417GlnfsTer?)
c.2600_2603del (p.Pro867GlnfsTer?)
c.2464-1452_2464-1449del (n.2464-1452_2464-1449del)
c.2591_2594del (p.Pro864GlnfsTer?)
c.1892_1895del (p.Pro631GlnfsTer?)
c.2639_2642del (p.Pro880GlnfsTer?)
 dbSNP
16g.3770803C>ACA394551330CREBBPc.2647G>T (p.Ala883Ser)
c.2533G>T (p.Ala845Ser)
c.1252G>T (p.Ala418Ser)
c.2602G>T (p.Ala868Ser)
c.2464-1450G>T (n.2464-1450G>T)
c.2593G>T (p.Ala865Ser)
c.1894G>T (p.Ala632Ser)
c.2641G>T (p.Ala881Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v4
16g.3770803C=CA2202950887CREBBPc.2647G= (p.Ala883=)
c.2533G= (p.Ala845=)
c.1252G= (p.Ala418=)
c.2602G= (p.Ala868=)
c.2464-1450G= (n.2464-1450G=)
c.2593G= (p.Ala865=)
c.1894G= (p.Ala632=)
c.2641G= (p.Ala881=)
16g.3770803C>GCA394551328CREBBPc.2647G>C (p.Ala883Pro)
c.2533G>C (p.Ala845Pro)
c.1252G>C (p.Ala418Pro)
c.2602G>C (p.Ala868Pro)
c.2464-1450G>C (n.2464-1450G>C)
c.2593G>C (p.Ala865Pro)
c.1894G>C (p.Ala632Pro)
c.2641G>C (p.Ala881Pro)
 dbSNP
16g.3770803C>TCA394551327CREBBPc.2647G>A (p.Ala883Thr)
c.2533G>A (p.Ala845Thr)
c.1252G>A (p.Ala418Thr)
c.2602G>A (p.Ala868Thr)
c.2464-1450G>A (n.2464-1450G>A)
c.2593G>A (p.Ala865Thr)
c.1894G>A (p.Ala632Thr)
c.2641G>A (p.Ala881Thr)
 dbSNP
16g.3770804T>ACA493395040CREBBPc.2646A>T (p.Pro882=)
c.2532A>T (p.Pro844=)
c.1251A>T (p.Pro417=)
c.2601A>T (p.Pro867=)
c.2464-1451A>T (n.2464-1451A>T)
c.2592A>T (p.Pro864=)
c.1893A>T (p.Pro631=)
c.2640A>T (p.Pro880=)
 dbSNP
16g.3770804T>CCA493395041CREBBPc.2646A>G (p.Pro882=)
c.2532A>G (p.Pro844=)
c.1251A>G (p.Pro417=)
c.2601A>G (p.Pro867=)
c.2464-1451A>G (n.2464-1451A>G)
c.2592A>G (p.Pro864=)
c.1893A>G (p.Pro631=)
c.2640A>G (p.Pro880=)
16g.3770804T>GCA493395042CREBBPc.2646A>C (p.Pro882=)
c.2532A>C (p.Pro844=)
c.1251A>C (p.Pro417=)
c.2601A>C (p.Pro867=)
c.2464-1451A>C (n.2464-1451A>C)
c.2592A>C (p.Pro864=)
c.1893A>C (p.Pro631=)
c.2640A>C (p.Pro880=)
16g.3770805G>ACA7870057CREBBPc.2645C>T (p.Pro882Leu)
c.2531C>T (p.Pro844Leu)
c.1250C>T (p.Pro417Leu)
c.2600C>T (p.Pro867Leu)
c.2464-1452C>T (n.2464-1452C>T)
c.2591C>T (p.Pro864Leu)
c.1892C>T (p.Pro631Leu)
c.2639C>T (p.Pro880Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.3770805G>CCA394551333CREBBPc.2645C>G (p.Pro882Arg)
c.2531C>G (p.Pro844Arg)
c.1250C>G (p.Pro417Arg)
c.2600C>G (p.Pro867Arg)
c.2464-1452C>G (n.2464-1452C>G)
c.2591C>G (p.Pro864Arg)
c.1892C>G (p.Pro631Arg)
c.2639C>G (p.Pro880Arg)
 dbSNP gnomAD v4
16g.3770805G=CA2202950888CREBBPc.2645C= (p.Pro882=)
c.2531C= (p.Pro844=)
c.1250C= (p.Pro417=)
c.2600C= (p.Pro867=)
c.2464-1452C= (n.2464-1452C=)
c.2591C= (p.Pro864=)
c.1892C= (p.Pro631=)
c.2639C= (p.Pro880=)
16g.3770805G>TCA394551335CREBBPc.2645C>A (p.Pro882Gln)
c.2531C>A (p.Pro844Gln)
c.1250C>A (p.Pro417Gln)
c.2600C>A (p.Pro867Gln)
c.2464-1452C>A (n.2464-1452C>A)
c.2591C>A (p.Pro864Gln)
c.1892C>A (p.Pro631Gln)
c.2639C>A (p.Pro880Gln)
 dbSNP
16g.3770806G>ACA7870058CREBBPc.2644C>T (p.Pro882Ser)
c.2530C>T (p.Pro844Ser)
c.1249C>T (p.Pro417Ser)
c.2599C>T (p.Pro867Ser)
c.2464-1453C>T (n.2464-1453C>T)
c.2590C>T (p.Pro864Ser)
c.1891C>T (p.Pro631Ser)
c.2638C>T (p.Pro880Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3770806G>CCA394551338CREBBPc.2644C>G (p.Pro882Ala)
c.2530C>G (p.Pro844Ala)
c.1249C>G (p.Pro417Ala)
c.2599C>G (p.Pro867Ala)
c.2464-1453C>G (n.2464-1453C>G)
c.2590C>G (p.Pro864Ala)
c.1891C>G (p.Pro631Ala)
c.2638C>G (p.Pro880Ala)
 dbSNP gnomAD v4
16g.3770806G=CA2202950889CREBBPc.2644C= (p.Pro882=)
c.2530C= (p.Pro844=)
c.1249C= (p.Pro417=)
c.2599C= (p.Pro867=)
c.2464-1453C= (n.2464-1453C=)
c.2590C= (p.Pro864=)
c.1891C= (p.Pro631=)
c.2638C= (p.Pro880=)
16g.3770806G>TCA394551340CREBBPc.2644C>A (p.Pro882Thr)
c.2530C>A (p.Pro844Thr)
c.1249C>A (p.Pro417Thr)
c.2599C>A (p.Pro867Thr)
c.2464-1453C>A (n.2464-1453C>A)
c.2590C>A (p.Pro864Thr)
c.1891C>A (p.Pro631Thr)
c.2638C>A (p.Pro880Thr)
 dbSNP
16g.3770807C>ACA394551344CREBBPc.2643G>T (p.Gln881His)
c.2529G>T (p.Gln843His)
c.1248G>T (p.Gln416His)
c.2598G>T (p.Gln866His)
c.2464-1454G>T (n.2464-1454G>T)
c.2589G>T (p.Gln863His)
c.1890G>T (p.Gln630His)
c.2637G>T (p.Gln879His)
 dbSNP
16g.3770807C=CA2202950890CREBBPc.2643G= (p.Gln881=)
c.2529G= (p.Gln843=)
c.1248G= (p.Gln416=)
c.2598G= (p.Gln866=)
c.2464-1454G= (n.2464-1454G=)
c.2589G= (p.Gln863=)
c.1890G= (p.Gln630=)
c.2637G= (p.Gln879=)
16g.3770807C>GCA394551342CREBBPc.2643G>C (p.Gln881His)
c.2529G>C (p.Gln843His)
c.1248G>C (p.Gln416His)
c.2598G>C (p.Gln866His)
c.2464-1454G>C (n.2464-1454G>C)
c.2589G>C (p.Gln863His)
c.1890G>C (p.Gln630His)
c.2637G>C (p.Gln879His)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.3770807C>TCA493395046CREBBPc.2643G>A (p.Gln881=)
c.2529G>A (p.Gln843=)
c.1248G>A (p.Gln416=)
c.2598G>A (p.Gln866=)
c.2464-1454G>A (n.2464-1454G>A)
c.2589G>A (p.Gln863=)
c.1890G>A (p.Gln630=)
c.2637G>A (p.Gln879=)
 dbSNP
16g.3770808T>ACA394551346CREBBPc.2642A>T (p.Gln881Leu)
c.2528A>T (p.Gln843Leu)
c.1247A>T (p.Gln416Leu)
c.2597A>T (p.Gln866Leu)
c.2464-1455A>T (n.2464-1455A>T)
c.2588A>T (p.Gln863Leu)
c.1889A>T (p.Gln630Leu)
c.2636A>T (p.Gln879Leu)
 dbSNP
16g.3770808T>CCA394551347CREBBPc.2642A>G (p.Gln881Arg)
c.2528A>G (p.Gln843Arg)
c.1247A>G (p.Gln416Arg)
c.2597A>G (p.Gln866Arg)
c.2464-1455A>G (n.2464-1455A>G)
c.2588A>G (p.Gln863Arg)
c.1889A>G (p.Gln630Arg)
c.2636A>G (p.Gln879Arg)
16g.3770808T>GCA394551349CREBBPc.2642A>C (p.Gln881Pro)
c.2528A>C (p.Gln843Pro)
c.1247A>C (p.Gln416Pro)
c.2597A>C (p.Gln866Pro)
c.2464-1455A>C (n.2464-1455A>C)
c.2588A>C (p.Gln863Pro)
c.1889A>C (p.Gln630Pro)
c.2636A>C (p.Gln879Pro)
16g.3770809G>ACA394551352CREBBPc.2641C>T (p.Gln881Ter)
c.2527C>T (p.Gln843Ter)
c.1246C>T (p.Gln416Ter)
c.2596C>T (p.Gln866Ter)
c.2464-1456C>T (n.2464-1456C>T)
c.2587C>T (p.Gln863Ter)
c.1888C>T (p.Gln630Ter)
c.2635C>T (p.Gln879Ter)
 ClinVar dbSNP
16g.3770809G>CCA394551353CREBBPc.2641C>G (p.Gln881Glu)
c.2527C>G (p.Gln843Glu)
c.1246C>G (p.Gln416Glu)
c.2596C>G (p.Gln866Glu)
c.2464-1456C>G (n.2464-1456C>G)
c.2587C>G (p.Gln863Glu)
c.1888C>G (p.Gln630Glu)
c.2635C>G (p.Gln879Glu)
 dbSNP
16g.3770809G>TCA394551355CREBBPc.2641C>A (p.Gln881Lys)
c.2527C>A (p.Gln843Lys)
c.1246C>A (p.Gln416Lys)
c.2596C>A (p.Gln866Lys)
c.2464-1456C>A (n.2464-1456C>A)
c.2587C>A (p.Gln863Lys)
c.1888C>A (p.Gln630Lys)
c.2635C>A (p.Gln879Lys)
 dbSNP
16g.3770810G>ACA493395049CREBBPc.2640C>T (p.Pro880=)
c.2526C>T (p.Pro842=)
c.1245C>T (p.Pro415=)
c.2595C>T (p.Pro865=)
c.2464-1457C>T (n.2464-1457C>T)
c.2586C>T (p.Pro862=)
c.1887C>T (p.Pro629=)
c.2634C>T (p.Pro878=)
 dbSNP COSMIC
16g.3770810G>CCA493395051CREBBPc.2640C>G (p.Pro880=)
c.2526C>G (p.Pro842=)
c.1245C>G (p.Pro415=)
c.2595C>G (p.Pro865=)
c.2464-1457C>G (n.2464-1457C>G)
c.2586C>G (p.Pro862=)
c.1887C>G (p.Pro629=)
c.2634C>G (p.Pro878=)
 dbSNP
16g.3770810G>TCA493395053CREBBPc.2640C>A (p.Pro880=)
c.2526C>A (p.Pro842=)
c.1245C>A (p.Pro415=)
c.2595C>A (p.Pro865=)
c.2464-1457C>A (n.2464-1457C>A)
c.2586C>A (p.Pro862=)
c.1887C>A (p.Pro629=)
c.2634C>A (p.Pro878=)
 dbSNP
16g.3770811G>ACA394551357CREBBPc.2639C>T (p.Pro880Leu)
c.2525C>T (p.Pro842Leu)
c.1244C>T (p.Pro415Leu)
c.2594C>T (p.Pro865Leu)
c.2464-1458C>T (n.2464-1458C>T)
c.2585C>T (p.Pro862Leu)
c.1886C>T (p.Pro629Leu)
c.2633C>T (p.Pro878Leu)
 dbSNP gnomAD v4
16g.3770811G>CCA394551361CREBBPc.2639C>G (p.Pro880Arg)
c.2525C>G (p.Pro842Arg)
c.1244C>G (p.Pro415Arg)
c.2594C>G (p.Pro865Arg)
c.2464-1458C>G (n.2464-1458C>G)
c.2585C>G (p.Pro862Arg)
c.1886C>G (p.Pro629Arg)
c.2633C>G (p.Pro878Arg)
 dbSNP
16g.3770811G>TCA394551359CREBBPc.2639C>A (p.Pro880His)
c.2525C>A (p.Pro842His)
c.1244C>A (p.Pro415His)
c.2594C>A (p.Pro865His)
c.2464-1458C>A (n.2464-1458C>A)
c.2585C>A (p.Pro862His)
c.1886C>A (p.Pro629His)
c.2633C>A (p.Pro878His)
 dbSNP
16g.3770812G>ACA394551364CREBBPc.2638C>T (p.Pro880Ser)
c.2524C>T (p.Pro842Ser)
c.1243C>T (p.Pro415Ser)
c.2593C>T (p.Pro865Ser)
c.2464-1459C>T (n.2464-1459C>T)
c.2584C>T (p.Pro862Ser)
c.1885C>T (p.Pro629Ser)
c.2632C>T (p.Pro878Ser)
 ClinVar dbSNP gnomAD v4
16g.3770812G>CCA394551365CREBBPc.2638C>G (p.Pro880Ala)
c.2524C>G (p.Pro842Ala)
c.1243C>G (p.Pro415Ala)
c.2593C>G (p.Pro865Ala)
c.2464-1459C>G (n.2464-1459C>G)
c.2584C>G (p.Pro862Ala)
c.1885C>G (p.Pro629Ala)
c.2632C>G (p.Pro878Ala)
 dbSNP
16g.3770812G=CA2202950891CREBBPc.2638C= (p.Pro880=)
c.2524C= (p.Pro842=)
c.1243C= (p.Pro415=)
c.2593C= (p.Pro865=)
c.2464-1459C= (n.2464-1459C=)
c.2584C= (p.Pro862=)
c.1885C= (p.Pro629=)
c.2632C= (p.Pro878=)
16g.3770812G>TCA394551366CREBBPc.2638C>A (p.Pro880Thr)
c.2524C>A (p.Pro842Thr)
c.1243C>A (p.Pro415Thr)
c.2593C>A (p.Pro865Thr)
c.2464-1459C>A (n.2464-1459C>A)
c.2584C>A (p.Pro862Thr)
c.1885C>A (p.Pro629Thr)
c.2632C>A (p.Pro878Thr)
 dbSNP
16g.3770813A=CA2202950892CREBBPc.2637T= (p.Pro879=)
c.2523T= (p.Pro841=)
c.1242T= (p.Pro414=)
c.2592T= (p.Pro864=)
c.2464-1460T= (n.2464-1460T=)
c.2583T= (p.Pro861=)
c.1884T= (p.Pro628=)
c.2631T= (p.Pro877=)
16g.3770813A>CCA493395055CREBBPc.2637T>G (p.Pro879=)
c.2523T>G (p.Pro841=)
c.1242T>G (p.Pro414=)
c.2592T>G (p.Pro864=)
c.2464-1460T>G (n.2464-1460T>G)
c.2583T>G (p.Pro861=)
c.1884T>G (p.Pro628=)
c.2631T>G (p.Pro877=)
 gnomAD v4
16g.3770813A>GCA7870059CREBBPc.2637T>C (p.Pro879=)
c.2523T>C (p.Pro841=)
c.1242T>C (p.Pro414=)
c.2592T>C (p.Pro864=)
c.2464-1460T>C (n.2464-1460T>C)
c.2583T>C (p.Pro861=)
c.1884T>C (p.Pro628=)
c.2631T>C (p.Pro877=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3770813A>TCA493395056CREBBPc.2637T>A (p.Pro879=)
c.2523T>A (p.Pro841=)
c.1242T>A (p.Pro414=)
c.2592T>A (p.Pro864=)
c.2464-1460T>A (n.2464-1460T>A)
c.2583T>A (p.Pro861=)
c.1884T>A (p.Pro628=)
c.2631T>A (p.Pro877=)
16g.3770814G>ACA394551370CREBBPc.2636C>T (p.Pro879Leu)
c.2522C>T (p.Pro841Leu)
c.1241C>T (p.Pro414Leu)
c.2591C>T (p.Pro864Leu)
c.2464-1461C>T (n.2464-1461C>T)
c.2582C>T (p.Pro861Leu)
c.1883C>T (p.Pro628Leu)
c.2630C>T (p.Pro877Leu)
16g.3770814G>CCA394551372CREBBPc.2636C>G (p.Pro879Arg)
c.2522C>G (p.Pro841Arg)
c.1241C>G (p.Pro414Arg)
c.2591C>G (p.Pro864Arg)
c.2464-1461C>G (n.2464-1461C>G)
c.2582C>G (p.Pro861Arg)
c.1883C>G (p.Pro628Arg)
c.2630C>G (p.Pro877Arg)
16g.3770814G>TCA394551373CREBBPc.2636C>A (p.Pro879His)
c.2522C>A (p.Pro841His)
c.1241C>A (p.Pro414His)
c.2591C>A (p.Pro864His)
c.2464-1461C>A (n.2464-1461C>A)
c.2582C>A (p.Pro861His)
c.1883C>A (p.Pro628His)
c.2630C>A (p.Pro877His)
 gnomAD v4
16g.3770815G>ACA7870060CREBBPc.2635C>T (p.Pro879Ser)
c.2521C>T (p.Pro841Ser)
c.1240C>T (p.Pro414Ser)
c.2590C>T (p.Pro864Ser)
c.2464-1462C>T (n.2464-1462C>T)
c.2581C>T (p.Pro861Ser)
c.1882C>T (p.Pro628Ser)
c.2629C>T (p.Pro877Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3770815G>CCA394551376CREBBPc.2635C>G (p.Pro879Ala)
c.2521C>G (p.Pro841Ala)
c.1240C>G (p.Pro414Ala)
c.2590C>G (p.Pro864Ala)
c.2464-1462C>G (n.2464-1462C>G)
c.2581C>G (p.Pro861Ala)
c.1882C>G (p.Pro628Ala)
c.2629C>G (p.Pro877Ala)
 dbSNP gnomAD v4
16g.3770815G=CA2202950893CREBBPc.2635C= (p.Pro879=)
c.2521C= (p.Pro841=)
c.1240C= (p.Pro414=)
c.2590C= (p.Pro864=)
c.2464-1462C= (n.2464-1462C=)
c.2581C= (p.Pro861=)
c.1882C= (p.Pro628=)
c.2629C= (p.Pro877=)
16g.3770815G>TCA394551378CREBBPc.2635C>A (p.Pro879Thr)
c.2521C>A (p.Pro841Thr)
c.1240C>A (p.Pro414Thr)
c.2590C>A (p.Pro864Thr)
c.2464-1462C>A (n.2464-1462C>A)
c.2581C>A (p.Pro861Thr)
c.1882C>A (p.Pro628Thr)
c.2629C>A (p.Pro877Thr)
 dbSNP gnomAD v4
16g.3770816A=CA2202950894CREBBPc.2634T= (p.Thr878=)
c.2520T= (p.Thr840=)
c.1239T= (p.Thr413=)
c.2589T= (p.Thr863=)
c.2464-1463T= (n.2464-1463T=)
c.2580T= (p.Thr860=)
c.1881T= (p.Thr627=)
c.2628T= (p.Thr876=)
16g.3770816A>CCA493395058CREBBPc.2634T>G (p.Thr878=)
c.2520T>G (p.Thr840=)
c.1239T>G (p.Thr413=)
c.2589T>G (p.Thr863=)
c.2464-1463T>G (n.2464-1463T>G)
c.2580T>G (p.Thr860=)
c.1881T>G (p.Thr627=)
c.2628T>G (p.Thr876=)
16g.3770816A>GCA493395060CREBBPc.2634T>C (p.Thr878=)
c.2520T>C (p.Thr840=)
c.1239T>C (p.Thr413=)
c.2589T>C (p.Thr863=)
c.2464-1463T>C (n.2464-1463T>C)
c.2580T>C (p.Thr860=)
c.1881T>C (p.Thr627=)
c.2628T>C (p.Thr876=)
 dbSNP gnomAD v4
16g.3770816A>TCA493395059CREBBPc.2634T>A (p.Thr878=)
c.2520T>A (p.Thr840=)
c.1239T>A (p.Thr413=)
c.2589T>A (p.Thr863=)
c.2464-1463T>A (n.2464-1463T>A)
c.2580T>A (p.Thr860=)
c.1881T>A (p.Thr627=)
c.2628T>A (p.Thr876=)
 dbSNP
16g.3770817G>ACA394551383CREBBPc.2633C>T (p.Thr878Ile)
c.2519C>T (p.Thr840Ile)
c.1238C>T (p.Thr413Ile)
c.2588C>T (p.Thr863Ile)
c.2464-1464C>T (n.2464-1464C>T)
c.2579C>T (p.Thr860Ile)
c.1880C>T (p.Thr627Ile)
c.2627C>T (p.Thr876Ile)
 dbSNP
16g.3770817G>CCA276969078CREBBPc.2633C>G (p.Thr878Ser)
c.2519C>G (p.Thr840Ser)
c.1238C>G (p.Thr413Ser)
c.2588C>G (p.Thr863Ser)
c.2464-1464C>G (n.2464-1464C>G)
c.2579C>G (p.Thr860Ser)
c.1880C>G (p.Thr627Ser)
c.2627C>G (p.Thr876Ser)
 dbSNP
16g.3770817G=CA2202950895CREBBPc.2633C= (p.Thr878=)
c.2519C= (p.Thr840=)
c.1238C= (p.Thr413=)
c.2588C= (p.Thr863=)
c.2464-1464C= (n.2464-1464C=)
c.2579C= (p.Thr860=)
c.1880C= (p.Thr627=)
c.2627C= (p.Thr876=)
16g.3770817G>TCA394551380CREBBPc.2633C>A (p.Thr878Asn)
c.2519C>A (p.Thr840Asn)
c.1238C>A (p.Thr413Asn)
c.2588C>A (p.Thr863Asn)
c.2464-1464C>A (n.2464-1464C>A)
c.2579C>A (p.Thr860Asn)
c.1880C>A (p.Thr627Asn)
c.2627C>A (p.Thr876Asn)
16g.3770818T>ACA394551385CREBBPc.2632A>T (p.Thr878Ser)
c.2518A>T (p.Thr840Ser)
c.1237A>T (p.Thr413Ser)
c.2587A>T (p.Thr863Ser)
c.2464-1465A>T (n.2464-1465A>T)
c.2578A>T (p.Thr860Ser)
c.1879A>T (p.Thr627Ser)
c.2626A>T (p.Thr876Ser)
 dbSNP
16g.3770818T>CCA394551387CREBBPc.2632A>G (p.Thr878Ala)
c.2518A>G (p.Thr840Ala)
c.1237A>G (p.Thr413Ala)
c.2587A>G (p.Thr863Ala)
c.2464-1465A>G (n.2464-1465A>G)
c.2578A>G (p.Thr860Ala)
c.1879A>G (p.Thr627Ala)
c.2626A>G (p.Thr876Ala)
 dbSNP
16g.3770818T>GCA394551389CREBBPc.2632A>C (p.Thr878Pro)
c.2518A>C (p.Thr840Pro)
c.1237A>C (p.Thr413Pro)
c.2587A>C (p.Thr863Pro)
c.2464-1465A>C (n.2464-1465A>C)
c.2578A>C (p.Thr860Pro)
c.1879A>C (p.Thr627Pro)
c.2626A>C (p.Thr876Pro)
 dbSNP
16g.3770818T=CA2202950896CREBBPc.2632A= (p.Thr878=)
c.2518A= (p.Thr840=)
c.1237A= (p.Thr413=)
c.2587A= (p.Thr863=)
c.2464-1465A= (n.2464-1465A=)
c.2578A= (p.Thr860=)
c.1879A= (p.Thr627=)
c.2626A= (p.Thr876=)
16g.3770819C>ACA394551391CREBBPc.2631G>T (p.Met877Ile)
c.2517G>T (p.Met839Ile)
c.1236G>T (p.Met412Ile)
c.2586G>T (p.Met862Ile)
c.2464-1466G>T (n.2464-1466G>T)
c.2577G>T (p.Met859Ile)
c.1878G>T (p.Met626Ile)
c.2625G>T (p.Met875Ile)
 dbSNP
16g.3770819C>GCA394551393CREBBPc.2631G>C (p.Met877Ile)
c.2517G>C (p.Met839Ile)
c.1236G>C (p.Met412Ile)
c.2586G>C (p.Met862Ile)
c.2464-1466G>C (n.2464-1466G>C)
c.2577G>C (p.Met859Ile)
c.1878G>C (p.Met626Ile)
c.2625G>C (p.Met875Ile)
 ClinVar dbSNP
16g.3770819C>TCA394551395CREBBPc.2631G>A (p.Met877Ile)
c.2517G>A (p.Met839Ile)
c.1236G>A (p.Met412Ile)
c.2586G>A (p.Met862Ile)
c.2464-1466G>A (n.2464-1466G>A)
c.2577G>A (p.Met859Ile)
c.1878G>A (p.Met626Ile)
c.2625G>A (p.Met875Ile)
 dbSNP
16g.3770820A>CCA394551400CREBBPc.2630T>G (p.Met877Arg)
c.2516T>G (p.Met839Arg)
c.1235T>G (p.Met412Arg)
c.2585T>G (p.Met862Arg)
c.2464-1467T>G (n.2464-1467T>G)
c.2576T>G (p.Met859Arg)
c.1877T>G (p.Met626Arg)
c.2624T>G (p.Met875Arg)
 dbSNP
16g.3770820A>GCA394551398CREBBPc.2630T>C (p.Met877Thr)
c.2516T>C (p.Met839Thr)
c.1235T>C (p.Met412Thr)
c.2585T>C (p.Met862Thr)
c.2464-1467T>C (n.2464-1467T>C)
c.2576T>C (p.Met859Thr)
c.1877T>C (p.Met626Thr)
c.2624T>C (p.Met875Thr)
16g.3770820A>TCA394551396CREBBPc.2630T>A (p.Met877Lys)
c.2516T>A (p.Met839Lys)
c.1235T>A (p.Met412Lys)
c.2585T>A (p.Met862Lys)
c.2464-1467T>A (n.2464-1467T>A)
c.2576T>A (p.Met859Lys)
c.1877T>A (p.Met626Lys)
c.2624T>A (p.Met875Lys)
 dbSNP
16g.3770821T>ACA394551402CREBBPc.2629A>T (p.Met877Leu)
c.2515A>T (p.Met839Leu)
c.1234A>T (p.Met412Leu)
c.2584A>T (p.Met862Leu)
c.2464-1468A>T (n.2464-1468A>T)
c.2575A>T (p.Met859Leu)
c.1876A>T (p.Met626Leu)
c.2623A>T (p.Met875Leu)
 dbSNP
16g.3770821T>CCA394551404CREBBPc.2629A>G (p.Met877Val)
c.2515A>G (p.Met839Val)
c.1234A>G (p.Met412Val)
c.2584A>G (p.Met862Val)
c.2464-1468A>G (n.2464-1468A>G)
c.2575A>G (p.Met859Val)
c.1876A>G (p.Met626Val)
c.2623A>G (p.Met875Val)
16g.3770821T>GCA394551406CREBBPc.2629A>C (p.Met877Leu)
c.2515A>C (p.Met839Leu)
c.1234A>C (p.Met412Leu)
c.2584A>C (p.Met862Leu)
c.2464-1468A>C (n.2464-1468A>C)
c.2575A>C (p.Met859Leu)
c.1876A>C (p.Met626Leu)
c.2623A>C (p.Met875Leu)
16g.3770821T=CA2202950897CREBBPc.2629A= (p.Met877=)
c.2515A= (p.Met839=)
c.1234A= (p.Met412=)
c.2584A= (p.Met862=)
c.2464-1468A= (n.2464-1468A=)
c.2575A= (p.Met859=)
c.1876A= (p.Met626=)
c.2623A= (p.Met875=)
16g.3770822C>ACA493395066CREBBPc.2628G>T (p.Gly876=)
c.2514G>T (p.Gly838=)
c.1233G>T (p.Gly411=)
c.2583G>T (p.Gly861=)
c.2464-1469G>T (n.2464-1469G>T)
c.2574G>T (p.Gly858=)
c.1875G>T (p.Gly625=)
c.2622G>T (p.Gly874=)
 dbSNP
16g.3770822C>GCA493395067CREBBPc.2628G>C (p.Gly876=)
c.2514G>C (p.Gly838=)
c.1233G>C (p.Gly411=)
c.2583G>C (p.Gly861=)
c.2464-1469G>C (n.2464-1469G>C)
c.2574G>C (p.Gly858=)
c.1875G>C (p.Gly625=)
c.2622G>C (p.Gly874=)
 dbSNP
16g.3770822C>TCA493395068CREBBPc.2628G>A (p.Gly876=)
c.2514G>A (p.Gly838=)
c.1233G>A (p.Gly411=)
c.2583G>A (p.Gly861=)
c.2464-1469G>A (n.2464-1469G>A)
c.2574G>A (p.Gly858=)
c.1875G>A (p.Gly625=)
c.2622G>A (p.Gly874=)
 dbSNP gnomAD v4
16g.3770823C>ACA394551408CREBBPc.2627G>T (p.Gly876Val)
c.2513G>T (p.Gly838Val)
c.1232G>T (p.Gly411Val)
c.2582G>T (p.Gly861Val)
c.2464-1470G>T (n.2464-1470G>T)
c.2573G>T (p.Gly858Val)
c.1874G>T (p.Gly625Val)
c.2621G>T (p.Gly874Val)
 dbSNP
16g.3770823C=CA2202950898CREBBPc.2627G= (p.Gly876=)
c.2513G= (p.Gly838=)
c.1232G= (p.Gly411=)
c.2582G= (p.Gly861=)
c.2464-1470G= (n.2464-1470G=)
c.2573G= (p.Gly858=)
c.1874G= (p.Gly625=)
c.2621G= (p.Gly874=)
16g.3770823C>GCA394551409CREBBPc.2627G>C (p.Gly876Ala)
c.2513G>C (p.Gly838Ala)
c.1232G>C (p.Gly411Ala)
c.2582G>C (p.Gly861Ala)
c.2464-1470G>C (n.2464-1470G>C)
c.2573G>C (p.Gly858Ala)
c.1874G>C (p.Gly625Ala)
c.2621G>C (p.Gly874Ala)
 dbSNP
16g.3770823C>TCA394551411CREBBPc.2627G>A (p.Gly876Glu)
c.2513G>A (p.Gly838Glu)
c.1232G>A (p.Gly411Glu)
c.2582G>A (p.Gly861Glu)
c.2464-1470G>A (n.2464-1470G>A)
c.2573G>A (p.Gly858Glu)
c.1874G>A (p.Gly625Glu)
c.2621G>A (p.Gly874Glu)
 dbSNP gnomAD v3 gnomAD v4
16g.3770824C>ACA394551412CREBBPc.2626G>T (p.Gly876Trp)
c.2512G>T (p.Gly838Trp)
c.1231G>T (p.Gly411Trp)
c.2581G>T (p.Gly861Trp)
c.2464-1471G>T (n.2464-1471G>T)
c.2572G>T (p.Gly858Trp)
c.1873G>T (p.Gly625Trp)
c.2620G>T (p.Gly874Trp)
 dbSNP
16g.3770824C=CA2202950899CREBBPc.2626G= (p.Gly876=)
c.2512G= (p.Gly838=)
c.1231G= (p.Gly411=)
c.2581G= (p.Gly861=)
c.2464-1471G= (n.2464-1471G=)
c.2572G= (p.Gly858=)
c.1873G= (p.Gly625=)
c.2620G= (p.Gly874=)
16g.3770824C>GCA394551414CREBBPc.2626G>C (p.Gly876Arg)
c.2512G>C (p.Gly838Arg)
c.1231G>C (p.Gly411Arg)
c.2581G>C (p.Gly861Arg)
c.2464-1471G>C (n.2464-1471G>C)
c.2572G>C (p.Gly858Arg)
c.1873G>C (p.Gly625Arg)
c.2620G>C (p.Gly874Arg)
 dbSNP
16g.3770824C>TCA7870061CREBBPc.2626G>A (p.Gly876Arg)
c.2512G>A (p.Gly838Arg)
c.1231G>A (p.Gly411Arg)
c.2581G>A (p.Gly861Arg)
c.2464-1471G>A (n.2464-1471G>A)
c.2572G>A (p.Gly858Arg)
c.1873G>A (p.Gly625Arg)
c.2620G>A (p.Gly874Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3770825A=CA2202950900CREBBPc.2625T= (p.Pro875=)
c.2511T= (p.Pro837=)
c.1230T= (p.Pro410=)
c.2580T= (p.Pro860=)
c.2464-1472T= (n.2464-1472T=)
c.2571T= (p.Pro857=)
c.1872T= (p.Pro624=)
c.2619T= (p.Pro873=)
16g.3770825A>CCA493395071CREBBPc.2625T>G (p.Pro875=)
c.2511T>G (p.Pro837=)
c.1230T>G (p.Pro410=)
c.2580T>G (p.Pro860=)
c.2464-1472T>G (n.2464-1472T>G)
c.2571T>G (p.Pro857=)
c.1872T>G (p.Pro624=)
c.2619T>G (p.Pro873=)
 dbSNP
16g.3770825A>GCA493395072CREBBPc.2625T>C (p.Pro875=)
c.2511T>C (p.Pro837=)
c.1230T>C (p.Pro410=)
c.2580T>C (p.Pro860=)
c.2464-1472T>C (n.2464-1472T>C)
c.2571T>C (p.Pro857=)
c.1872T>C (p.Pro624=)
c.2619T>C (p.Pro873=)
 dbSNP gnomAD v2 gnomAD v4
16g.3770825A>TCA493395073CREBBPc.2625T>A (p.Pro875=)
c.2511T>A (p.Pro837=)
c.1230T>A (p.Pro410=)
c.2580T>A (p.Pro860=)
c.2464-1472T>A (n.2464-1472T>A)
c.2571T>A (p.Pro857=)
c.1872T>A (p.Pro624=)
c.2619T>A (p.Pro873=)
16g.3770826G>ACA394551416CREBBPc.2624C>T (p.Pro875Leu)
c.2510C>T (p.Pro837Leu)
c.1229C>T (p.Pro410Leu)
c.2579C>T (p.Pro860Leu)
c.2464-1473C>T (n.2464-1473C>T)
c.2570C>T (p.Pro857Leu)
c.1871C>T (p.Pro624Leu)
c.2618C>T (p.Pro873Leu)
 dbSNP
16g.3770826G>CCA394551418CREBBPc.2624C>G (p.Pro875Arg)
c.2510C>G (p.Pro837Arg)
c.1229C>G (p.Pro410Arg)
c.2579C>G (p.Pro860Arg)
c.2464-1473C>G (n.2464-1473C>G)
c.2570C>G (p.Pro857Arg)
c.1871C>G (p.Pro624Arg)
c.2618C>G (p.Pro873Arg)
 dbSNP gnomAD v4
16g.3770826G>TCA394551420CREBBPc.2624C>A (p.Pro875His)
c.2510C>A (p.Pro837His)
c.1229C>A (p.Pro410His)
c.2579C>A (p.Pro860His)
c.2464-1473C>A (n.2464-1473C>A)
c.2570C>A (p.Pro857His)
c.1871C>A (p.Pro624His)
c.2618C>A (p.Pro873His)
 dbSNP
16g.3770827G>ACA394551422CREBBPc.2623C>T (p.Pro875Ser)
c.2509C>T (p.Pro837Ser)
c.1228C>T (p.Pro410Ser)
c.2578C>T (p.Pro860Ser)
c.2464-1474C>T (n.2464-1474C>T)
c.2569C>T (p.Pro857Ser)
c.1870C>T (p.Pro624Ser)
c.2617C>T (p.Pro873Ser)
 dbSNP gnomAD v2 gnomAD v4
16g.3770827G>CCA394551424CREBBPc.2623C>G (p.Pro875Ala)
c.2509C>G (p.Pro837Ala)
c.1228C>G (p.Pro410Ala)
c.2578C>G (p.Pro860Ala)
c.2464-1474C>G (n.2464-1474C>G)
c.2569C>G (p.Pro857Ala)
c.1870C>G (p.Pro624Ala)
c.2617C>G (p.Pro873Ala)
 dbSNP gnomAD v4
16g.3770827G=CA2202950901CREBBPc.2623C= (p.Pro875=)
c.2509C= (p.Pro837=)
c.1228C= (p.Pro410=)
c.2578C= (p.Pro860=)
c.2464-1474C= (n.2464-1474C=)
c.2569C= (p.Pro857=)
c.1870C= (p.Pro624=)
c.2617C= (p.Pro873=)
16g.3770827G>TCA394551426CREBBPc.2623C>A (p.Pro875Thr)
c.2509C>A (p.Pro837Thr)
c.1228C>A (p.Pro410Thr)
c.2578C>A (p.Pro860Thr)
c.2464-1474C>A (n.2464-1474C>A)
c.2569C>A (p.Pro857Thr)
c.1870C>A (p.Pro624Thr)
c.2617C>A (p.Pro873Thr)
 dbSNP
16g.3770828T>ACA493395077CREBBPc.2622A>T (p.Pro874=)
c.2508A>T (p.Pro836=)
c.1227A>T (p.Pro409=)
c.2577A>T (p.Pro859=)
c.2464-1475A>T (n.2464-1475A>T)
c.2568A>T (p.Pro856=)
c.1869A>T (p.Pro623=)
c.2616A>T (p.Pro872=)
16g.3770828T>CCA276969084CREBBPc.2622A>G (p.Pro874=)
c.2508A>G (p.Pro836=)
c.1227A>G (p.Pro409=)
c.2577A>G (p.Pro859=)
c.2464-1475A>G (n.2464-1475A>G)
c.2568A>G (p.Pro856=)
c.1869A>G (p.Pro623=)
c.2616A>G (p.Pro872=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.3770828T>GCA493395078CREBBPc.2622A>C (p.Pro874=)
c.2508A>C (p.Pro836=)
c.1227A>C (p.Pro409=)
c.2577A>C (p.Pro859=)
c.2464-1475A>C (n.2464-1475A>C)
c.2568A>C (p.Pro856=)
c.1869A>C (p.Pro623=)
c.2616A>C (p.Pro872=)
 dbSNP
16g.3770828T=CA2202950902CREBBPc.2622A= (p.Pro874=)
c.2508A= (p.Pro836=)
c.1227A= (p.Pro409=)
c.2577A= (p.Pro859=)
c.2464-1475A= (n.2464-1475A=)
c.2568A= (p.Pro856=)
c.1869A= (p.Pro623=)
c.2616A= (p.Pro872=)
16g.3770829G>ACA394551428CREBBPc.2621C>T (p.Pro874Leu)
c.2507C>T (p.Pro836Leu)
c.1226C>T (p.Pro409Leu)
c.2576C>T (p.Pro859Leu)
c.2464-1476C>T (n.2464-1476C>T)
c.2567C>T (p.Pro856Leu)
c.1868C>T (p.Pro623Leu)
c.2615C>T (p.Pro872Leu)
16g.3770829G>CCA394551430CREBBPc.2621C>G (p.Pro874Arg)
c.2507C>G (p.Pro836Arg)
c.1226C>G (p.Pro409Arg)
c.2576C>G (p.Pro859Arg)
c.2464-1476C>G (n.2464-1476C>G)
c.2567C>G (p.Pro856Arg)
c.1868C>G (p.Pro623Arg)
c.2615C>G (p.Pro872Arg)
16g.3770829G>TCA394551432CREBBPc.2621C>A (p.Pro874Gln)
c.2507C>A (p.Pro836Gln)
c.1226C>A (p.Pro409Gln)
c.2576C>A (p.Pro859Gln)
c.2464-1476C>A (n.2464-1476C>A)
c.2567C>A (p.Pro856Gln)
c.1868C>A (p.Pro623Gln)
c.2615C>A (p.Pro872Gln)
 dbSNP
16g.3770830delCA2695222750CREBBPc.2621del (p.Pro874HisfsTer4)
c.2507del (p.Pro836HisfsTer4)
c.1226del (p.Pro409HisfsTer4)
c.2576del (p.Pro859HisfsTer4)
c.2464-1476del (n.2464-1476del)
c.2567del (p.Pro856HisfsTer4)
c.1868del (p.Pro623HisfsTer4)
c.2615del (p.Pro872HisfsTer4)
16g.3770830G>ACA394551434CREBBPc.2620C>T (p.Pro874Ser)
c.2506C>T (p.Pro836Ser)
c.1225C>T (p.Pro409Ser)
c.2575C>T (p.Pro859Ser)
c.2464-1477C>T (n.2464-1477C>T)
c.2566C>T (p.Pro856Ser)
c.1867C>T (p.Pro623Ser)
c.2614C>T (p.Pro872Ser)
 dbSNP
16g.3770830G>CCA394551436CREBBPc.2620C>G (p.Pro874Ala)
c.2506C>G (p.Pro836Ala)
c.1225C>G (p.Pro409Ala)
c.2575C>G (p.Pro859Ala)
c.2464-1477C>G (n.2464-1477C>G)
c.2566C>G (p.Pro856Ala)
c.1867C>G (p.Pro623Ala)
c.2614C>G (p.Pro872Ala)
 dbSNP gnomAD v4
16g.3770830G>TCA394551438CREBBPc.2620C>A (p.Pro874Thr)
c.2506C>A (p.Pro836Thr)
c.1225C>A (p.Pro409Thr)
c.2575C>A (p.Pro859Thr)
c.2464-1477C>A (n.2464-1477C>A)
c.2566C>A (p.Pro856Thr)
c.1867C>A (p.Pro623Thr)
c.2614C>A (p.Pro872Thr)
16g.3770831T>ACA493395082CREBBPc.2619A>T (p.Thr873=)
c.2505A>T (p.Thr835=)
c.1224A>T (p.Thr408=)
c.2574A>T (p.Thr858=)
c.2464-1478A>T (n.2464-1478A>T)
c.2565A>T (p.Thr855=)
c.1866A>T (p.Thr622=)
c.2613A>T (p.Thr871=)
 dbSNP
16g.3770831T>CCA493395083CREBBPc.2619A>G (p.Thr873=)
c.2505A>G (p.Thr835=)
c.1224A>G (p.Thr408=)
c.2574A>G (p.Thr858=)
c.2464-1478A>G (n.2464-1478A>G)
c.2565A>G (p.Thr855=)
c.1866A>G (p.Thr622=)
c.2613A>G (p.Thr871=)
16g.3770831T>GCA493395084CREBBPc.2619A>C (p.Thr873=)
c.2505A>C (p.Thr835=)
c.1224A>C (p.Thr408=)
c.2574A>C (p.Thr858=)
c.2464-1478A>C (n.2464-1478A>C)
c.2565A>C (p.Thr855=)
c.1866A>C (p.Thr622=)
c.2613A>C (p.Thr871=)
 dbSNP
16g.3770832G>ACA394551440CREBBPc.2618C>T (p.Thr873Ile)
c.2504C>T (p.Thr835Ile)
c.1223C>T (p.Thr408Ile)
c.2573C>T (p.Thr858Ile)
c.2464-1479C>T (n.2464-1479C>T)
c.2564C>T (p.Thr855Ile)
c.1865C>T (p.Thr622Ile)
c.2612C>T (p.Thr871Ile)
 dbSNP gnomAD v4
16g.3770832G>CCA394551444CREBBPc.2618C>G (p.Thr873Arg)
c.2504C>G (p.Thr835Arg)
c.1223C>G (p.Thr408Arg)
c.2573C>G (p.Thr858Arg)
c.2464-1479C>G (n.2464-1479C>G)
c.2564C>G (p.Thr855Arg)
c.1865C>G (p.Thr622Arg)
c.2612C>G (p.Thr871Arg)
 dbSNP
16g.3770832G>TCA394551442CREBBPc.2618C>A (p.Thr873Lys)
c.2504C>A (p.Thr835Lys)
c.1223C>A (p.Thr408Lys)
c.2573C>A (p.Thr858Lys)
c.2464-1479C>A (n.2464-1479C>A)
c.2564C>A (p.Thr855Lys)
c.1865C>A (p.Thr622Lys)
c.2612C>A (p.Thr871Lys)
 dbSNP
16g.3770833T>ACA394551446CREBBPc.2617A>T (p.Thr873Ser)
c.2503A>T (p.Thr835Ser)
c.1222A>T (p.Thr408Ser)
c.2572A>T (p.Thr858Ser)
c.2464-1480A>T (n.2464-1480A>T)
c.2563A>T (p.Thr855Ser)
c.1864A>T (p.Thr622Ser)
c.2611A>T (p.Thr871Ser)
 dbSNP
16g.3770833T>CCA7870062CREBBPc.2617A>G (p.Thr873Ala)
c.2503A>G (p.Thr835Ala)
c.1222A>G (p.Thr408Ala)
c.2572A>G (p.Thr858Ala)
c.2464-1480A>G (n.2464-1480A>G)
c.2563A>G (p.Thr855Ala)
c.1864A>G (p.Thr622Ala)
c.2611A>G (p.Thr871Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.3770833T>GCA394551449CREBBPc.2617A>C (p.Thr873Pro)
c.2503A>C (p.Thr835Pro)
c.1222A>C (p.Thr408Pro)
c.2572A>C (p.Thr858Pro)
c.2464-1480A>C (n.2464-1480A>C)
c.2563A>C (p.Thr855Pro)
c.1864A>C (p.Thr622Pro)
c.2611A>C (p.Thr871Pro)
 dbSNP
16g.3770833T=CA2202950903CREBBPc.2617A= (p.Thr873=)
c.2503A= (p.Thr835=)
c.1222A= (p.Thr408=)
c.2572A= (p.Thr858=)
c.2464-1480A= (n.2464-1480A=)
c.2563A= (p.Thr855=)
c.1864A= (p.Thr622=)
c.2611A= (p.Thr871=)
16g.3770834C>ACA493395085CREBBPc.2616G>T (p.Thr872=)
c.2502G>T (p.Thr834=)
c.1221G>T (p.Thr407=)
c.2571G>T (p.Thr857=)
c.2464-1481G>T (n.2464-1481G>T)
c.2562G>T (p.Thr854=)
c.1863G>T (p.Thr621=)
c.2610G>T (p.Thr870=)
 dbSNP
16g.3770834C=CA2202950904CREBBPc.2616G= (p.Thr872=)
c.2502G= (p.Thr834=)
c.1221G= (p.Thr407=)
c.2571G= (p.Thr857=)
c.2464-1481G= (n.2464-1481G=)
c.2562G= (p.Thr854=)
c.1863G= (p.Thr621=)
c.2610G= (p.Thr870=)
16g.3770834C>GCA493395086CREBBPc.2616G>C (p.Thr872=)
c.2502G>C (p.Thr834=)
c.1221G>C (p.Thr407=)
c.2571G>C (p.Thr857=)
c.2464-1481G>C (n.2464-1481G>C)
c.2562G>C (p.Thr854=)
c.1863G>C (p.Thr621=)
c.2610G>C (p.Thr870=)
 dbSNP gnomAD v3 gnomAD v4
16g.3770834C>TCA7870063CREBBPc.2616G>A (p.Thr872=)
c.2502G>A (p.Thr834=)
c.1221G>A (p.Thr407=)
c.2571G>A (p.Thr857=)
c.2464-1481G>A (n.2464-1481G>A)
c.2562G>A (p.Thr854=)
c.1863G>A (p.Thr621=)
c.2610G>A (p.Thr870=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3770834dupCA2695222751CREBBPc.2616dup (p.Thr873AspfsTer?)
c.2502dup (p.Thr835AspfsTer?)
c.1221dup (p.Thr408AspfsTer?)
c.2571dup (p.Thr858AspfsTer?)
c.2464-1481dup (n.2464-1481dup)
c.2562dup (p.Thr855AspfsTer?)
c.1863dup (p.Thr622AspfsTer?)
c.2610dup (p.Thr871AspfsTer?)
16g.3770835G>ACA7870064CREBBPc.2615C>T (p.Thr872Met)
c.2501C>T (p.Thr834Met)
c.1220C>T (p.Thr407Met)
c.2570C>T (p.Thr857Met)
c.2464-1482C>T (n.2464-1482C>T)
c.2561C>T (p.Thr854Met)
c.1862C>T (p.Thr621Met)
c.2609C>T (p.Thr870Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.3770835G>CCA394551453CREBBPc.2615C>G (p.Thr872Arg)
c.2501C>G (p.Thr834Arg)
c.1220C>G (p.Thr407Arg)
c.2570C>G (p.Thr857Arg)
c.2464-1482C>G (n.2464-1482C>G)
c.2561C>G (p.Thr854Arg)
c.1862C>G (p.Thr621Arg)
c.2609C>G (p.Thr870Arg)
 dbSNP gnomAD v4
16g.3770835G=CA2202950905CREBBPc.2615C= (p.Thr872=)
c.2501C= (p.Thr834=)
c.1220C= (p.Thr407=)
c.2570C= (p.Thr857=)
c.2464-1482C= (n.2464-1482C=)
c.2561C= (p.Thr854=)
c.1862C= (p.Thr621=)
c.2609C= (p.Thr870=)
16g.3770835G>TCA394551455CREBBPc.2615C>A (p.Thr872Lys)
c.2501C>A (p.Thr834Lys)
c.1220C>A (p.Thr407Lys)
c.2570C>A (p.Thr857Lys)
c.2464-1482C>A (n.2464-1482C>A)
c.2561C>A (p.Thr854Lys)
c.1862C>A (p.Thr621Lys)
c.2609C>A (p.Thr870Lys)
 dbSNP
16g.3770836T>ACA394551457CREBBPc.2614A>T (p.Thr872Ser)
c.2500A>T (p.Thr834Ser)
c.1219A>T (p.Thr407Ser)
c.2569A>T (p.Thr857Ser)
c.2464-1483A>T (n.2464-1483A>T)
c.2560A>T (p.Thr854Ser)
c.1861A>T (p.Thr621Ser)
c.2608A>T (p.Thr870Ser)
 dbSNP
16g.3770836T>CCA394551459CREBBPc.2614A>G (p.Thr872Ala)
c.2500A>G (p.Thr834Ala)
c.1219A>G (p.Thr407Ala)
c.2569A>G (p.Thr857Ala)
c.2464-1483A>G (n.2464-1483A>G)
c.2560A>G (p.Thr854Ala)
c.1861A>G (p.Thr621Ala)
c.2608A>G (p.Thr870Ala)
 dbSNP gnomAD v4
16g.3770836T>GCA394551461CREBBPc.2614A>C (p.Thr872Pro)
c.2500A>C (p.Thr834Pro)
c.1219A>C (p.Thr407Pro)
c.2569A>C (p.Thr857Pro)
c.2464-1483A>C (n.2464-1483A>C)
c.2560A>C (p.Thr854Pro)
c.1861A>C (p.Thr621Pro)
c.2608A>C (p.Thr870Pro)
 dbSNP
16g.3770837G>ACA276969093CREBBPc.2613C>T (p.His871=)
c.2499C>T (p.His833=)
c.1218C>T (p.His406=)
c.2568C>T (p.His856=)
c.2464-1484C>T (n.2464-1484C>T)
c.2559C>T (p.His853=)
c.1860C>T (p.His620=)
c.2607C>T (p.His869=)
 dbSNP gnomAD v4
16g.3770837G>CCA394551464CREBBPc.2613C>G (p.His871Gln)
c.2499C>G (p.His833Gln)
c.1218C>G (p.His406Gln)
c.2568C>G (p.His856Gln)
c.2464-1484C>G (n.2464-1484C>G)
c.2559C>G (p.His853Gln)
c.1860C>G (p.His620Gln)
c.2607C>G (p.His869Gln)
 dbSNP
16g.3770837G=CA2202950906CREBBPc.2613C= (p.His871=)
c.2499C= (p.His833=)
c.1218C= (p.His406=)
c.2568C= (p.His856=)
c.2464-1484C= (n.2464-1484C=)
c.2559C= (p.His853=)
c.1860C= (p.His620=)
c.2607C= (p.His869=)
16g.3770837G>TCA394551466CREBBPc.2613C>A (p.His871Gln)
c.2499C>A (p.His833Gln)
c.1218C>A (p.His406Gln)
c.2568C>A (p.His856Gln)
c.2464-1484C>A (n.2464-1484C>A)
c.2559C>A (p.His853Gln)
c.1860C>A (p.His620Gln)
c.2607C>A (p.His869Gln)
16g.3770838_3770845delCA2631426193CREBBPc.2606_2613del (p.Leu869HisfsTer?)
c.2492_2499del (p.Leu831HisfsTer?)
c.1211_1218del (p.Leu404HisfsTer?)
c.2561_2568del (p.Leu854HisfsTer?)
c.2464-1491_2464-1484del (n.2464-1491_2464-1484del)
c.2552_2559del (p.Leu851HisfsTer?)
c.1853_1860del (p.Leu618HisfsTer?)
c.2600_2607del (p.Leu867HisfsTer?)
 gnomAD v4
16g.3770838T>ACA394551468CREBBPc.2612A>T (p.His871Leu)
c.2498A>T (p.His833Leu)
c.1217A>T (p.His406Leu)
c.2567A>T (p.His856Leu)
c.2464-1485A>T (n.2464-1485A>T)
c.2558A>T (p.His853Leu)
c.1859A>T (p.His620Leu)
c.2606A>T (p.His869Leu)
 dbSNP
16g.3770838T>CCA394551472CREBBPc.2612A>G (p.His871Arg)
c.2498A>G (p.His833Arg)
c.1217A>G (p.His406Arg)
c.2567A>G (p.His856Arg)
c.2464-1485A>G (n.2464-1485A>G)
c.2558A>G (p.His853Arg)
c.1859A>G (p.His620Arg)
c.2606A>G (p.His869Arg)
16g.3770838T>GCA394551470CREBBPc.2612A>C (p.His871Pro)
c.2498A>C (p.His833Pro)
c.1217A>C (p.His406Pro)
c.2567A>C (p.His856Pro)
c.2464-1485A>C (n.2464-1485A>C)
c.2558A>C (p.His853Pro)
c.1859A>C (p.His620Pro)
c.2606A>C (p.His869Pro)
 dbSNP
16g.3770839G>ACA394551474CREBBPc.2611C>T (p.His871Tyr)
c.2497C>T (p.His833Tyr)
c.1216C>T (p.His406Tyr)
c.2566C>T (p.His856Tyr)
c.2464-1486C>T (n.2464-1486C>T)
c.2557C>T (p.His853Tyr)
c.1858C>T (p.His620Tyr)
c.2605C>T (p.His869Tyr)
 dbSNP
16g.3770839G>CCA394551476CREBBPc.2611C>G (p.His871Asp)
c.2497C>G (p.His833Asp)
c.1216C>G (p.His406Asp)
c.2566C>G (p.His856Asp)
c.2464-1486C>G (n.2464-1486C>G)
c.2557C>G (p.His853Asp)
c.1858C>G (p.His620Asp)
c.2605C>G (p.His869Asp)
 dbSNP
16g.3770839G>TCA394551478CREBBPc.2611C>A (p.His871Asn)
c.2497C>A (p.His833Asn)
c.1216C>A (p.His406Asn)
c.2566C>A (p.His856Asn)
c.2464-1486C>A (n.2464-1486C>A)
c.2557C>A (p.His853Asn)
c.1858C>A (p.His620Asn)
c.2605C>A (p.His869Asn)
 dbSNP
16g.3770840C>ACA394551480CREBBPc.2610G>T (p.Gln870His)
c.2496G>T (p.Gln832His)
c.1215G>T (p.Gln405His)
c.2565G>T (p.Gln855His)
c.2464-1487G>T (n.2464-1487G>T)
c.2556G>T (p.Gln852His)
c.1857G>T (p.Gln619His)
c.2604G>T (p.Gln868His)
 dbSNP
16g.3770840C>GCA394551482CREBBPc.2610G>C (p.Gln870His)
c.2496G>C (p.Gln832His)
c.1215G>C (p.Gln405His)
c.2565G>C (p.Gln855His)
c.2464-1487G>C (n.2464-1487G>C)
c.2556G>C (p.Gln852His)
c.1857G>C (p.Gln619His)
c.2604G>C (p.Gln868His)
 dbSNP
16g.3770840C>TCA493395091CREBBPc.2610G>A (p.Gln870=)
c.2496G>A (p.Gln832=)
c.1215G>A (p.Gln405=)
c.2565G>A (p.Gln855=)
c.2464-1487G>A (n.2464-1487G>A)
c.2556G>A (p.Gln852=)
c.1857G>A (p.Gln619=)
c.2604G>A (p.Gln868=)
 dbSNP
16g.3770841T>ACA394551484CREBBPc.2609A>T (p.Gln870Leu)
c.2495A>T (p.Gln832Leu)
c.1214A>T (p.Gln405Leu)
c.2564A>T (p.Gln855Leu)
c.2464-1488A>T (n.2464-1488A>T)
c.2555A>T (p.Gln852Leu)
c.1856A>T (p.Gln619Leu)
c.2603A>T (p.Gln868Leu)
 ClinVar
16g.3770841T>CCA394551486CREBBPc.2609A>G (p.Gln870Arg)
c.2495A>G (p.Gln832Arg)
c.1214A>G (p.Gln405Arg)
c.2564A>G (p.Gln855Arg)
c.2464-1488A>G (n.2464-1488A>G)
c.2555A>G (p.Gln852Arg)
c.1856A>G (p.Gln619Arg)
c.2603A>G (p.Gln868Arg)
16g.3770841T>GCA394551487CREBBPc.2609A>C (p.Gln870Pro)
c.2495A>C (p.Gln832Pro)
c.1214A>C (p.Gln405Pro)
c.2564A>C (p.Gln855Pro)
c.2464-1488A>C (n.2464-1488A>C)
c.2555A>C (p.Gln852Pro)
c.1856A>C (p.Gln619Pro)
c.2603A>C (p.Gln868Pro)
16g.3770842G>ACA394551490CREBBPc.2608C>T (p.Gln870Ter)
c.2494C>T (p.Gln832Ter)
c.1213C>T (p.Gln405Ter)
c.2563C>T (p.Gln855Ter)
c.2464-1489C>T (n.2464-1489C>T)
c.2554C>T (p.Gln852Ter)
c.1855C>T (p.Gln619Ter)
c.2602C>T (p.Gln868Ter)
 COSMIC
16g.3770842G>CCA394551492CREBBPc.2608C>G (p.Gln870Glu)
c.2494C>G (p.Gln832Glu)
c.1213C>G (p.Gln405Glu)
c.2563C>G (p.Gln855Glu)
c.2464-1489C>G (n.2464-1489C>G)
c.2554C>G (p.Gln852Glu)
c.1855C>G (p.Gln619Glu)
c.2602C>G (p.Gln868Glu)
16g.3770842G=CA2202950908CREBBPc.2608C= (p.Gln870=)
c.2494C= (p.Gln832=)
c.1213C= (p.Gln405=)
c.2563C= (p.Gln855=)
c.2464-1489C= (n.2464-1489C=)
c.2554C= (p.Gln852=)
c.1855C= (p.Gln619=)
c.2602C= (p.Gln868=)
16g.3770842G>TCA394551493CREBBPc.2608C>A (p.Gln870Lys)
c.2494C>A (p.Gln832Lys)
c.1213C>A (p.Gln405Lys)
c.2563C>A (p.Gln855Lys)
c.2464-1489C>A (n.2464-1489C>A)
c.2554C>A (p.Gln852Lys)
c.1855C>A (p.Gln619Lys)
c.2602C>A (p.Gln868Lys)
 dbSNP
16g.3770842_3770844delinsGGACA2202950907CREBBPc.2606_2608delinsTCC (p.Leu869=)
c.2492_2494delinsTCC (p.Leu831=)
c.1211_1213delinsTCC (p.Leu404=)
c.2561_2563delinsTCC (p.Leu854=)
c.2464-1491_2464-1489delinsTCC (n.2464-1491_2464-1489delinsTCC)
c.2552_2554delinsTCC (p.Leu851=)
c.1853_1855delinsTCC (p.Leu618=)
c.2600_2602delinsTCC (p.Leu867=)
16g.3770843G>ACA493395093CREBBPc.2607C>T (p.Leu869=)
c.2493C>T (p.Leu831=)
c.1212C>T (p.Leu404=)
c.2562C>T (p.Leu854=)
c.2464-1490C>T (n.2464-1490C>T)
c.2553C>T (p.Leu851=)
c.1854C>T (p.Leu618=)
c.2601C>T (p.Leu867=)
 dbSNP
16g.3770843G>CCA276969095CREBBPc.2607C>G (p.Leu869=)
c.2493C>G (p.Leu831=)
c.1212C>G (p.Leu404=)
c.2562C>G (p.Leu854=)
c.2464-1490C>G (n.2464-1490C>G)
c.2553C>G (p.Leu851=)
c.1854C>G (p.Leu618=)
c.2601C>G (p.Leu867=)
 dbSNP
16g.3770843G=CA2202950909CREBBPc.2607C= (p.Leu869=)
c.2493C= (p.Leu831=)
c.1212C= (p.Leu404=)
c.2562C= (p.Leu854=)
c.2464-1490C= (n.2464-1490C=)
c.2553C= (p.Leu851=)
c.1854C= (p.Leu618=)
c.2601C= (p.Leu867=)
16g.3770843G>TCA493395095CREBBPc.2607C>A (p.Leu869=)
c.2493C>A (p.Leu831=)
c.1212C>A (p.Leu404=)
c.2562C>A (p.Leu854=)
c.2464-1490C>A (n.2464-1490C>A)
c.2553C>A (p.Leu851=)
c.1854C>A (p.Leu618=)
c.2601C>A (p.Leu867=)
 dbSNP gnomAD v4
16g.3770847_3770848delCA271376CREBBPc.2606_2607del (p.Leu869ProfsTer?)
c.2492_2493del (p.Leu831ProfsTer?)
c.1211_1212del (p.Leu404ProfsTer?)
c.2561_2562del (p.Leu854ProfsTer?)
c.2464-1491_2464-1490del (n.2464-1491_2464-1490del)
c.2552_2553del (p.Leu851ProfsTer?)
c.1853_1854del (p.Leu618ProfsTer?)
c.2600_2601del (p.Leu867ProfsTer?)
 ClinVar dbSNP
16g.3770844A=CA2202950910CREBBPc.2606T= (p.Leu869=)
c.2492T= (p.Leu831=)
c.1211T= (p.Leu404=)
c.2561T= (p.Leu854=)
c.2464-1491T= (n.2464-1491T=)
c.2552T= (p.Leu851=)
c.1853T= (p.Leu618=)
c.2600T= (p.Leu867=)
16g.3770844A>CCA394551497CREBBPc.2606T>G (p.Leu869Arg)
c.2492T>G (p.Leu831Arg)
c.1211T>G (p.Leu404Arg)
c.2561T>G (p.Leu854Arg)
c.2464-1491T>G (n.2464-1491T>G)
c.2552T>G (p.Leu851Arg)
c.1853T>G (p.Leu618Arg)
c.2600T>G (p.Leu867Arg)
16g.3770844A>GCA271374CREBBPc.2606T>C (p.Leu869Pro)
c.2492T>C (p.Leu831Pro)
c.1211T>C (p.Leu404Pro)
c.2561T>C (p.Leu854Pro)
c.2464-1491T>C (n.2464-1491T>C)
c.2552T>C (p.Leu851Pro)
c.1853T>C (p.Leu618Pro)
c.2600T>C (p.Leu867Pro)
 ClinVar dbSNP
16g.3770844A>TCA394551499CREBBPc.2606T>A (p.Leu869His)
c.2492T>A (p.Leu831His)
c.1211T>A (p.Leu404His)
c.2561T>A (p.Leu854His)
c.2464-1491T>A (n.2464-1491T>A)
c.2552T>A (p.Leu851His)
c.1853T>A (p.Leu618His)
c.2600T>A (p.Leu867His)
 dbSNP
16g.3770845G>ACA394551502CREBBPc.2605C>T (p.Leu869Phe)
c.2491C>T (p.Leu831Phe)
c.1210C>T (p.Leu404Phe)
c.2560C>T (p.Leu854Phe)
c.2464-1492C>T (n.2464-1492C>T)
c.2551C>T (p.Leu851Phe)
c.1852C>T (p.Leu618Phe)
c.2599C>T (p.Leu867Phe)
 dbSNP
16g.3770845G>CCA7870065CREBBPc.2605C>G (p.Leu869Val)
c.2491C>G (p.Leu831Val)
c.1210C>G (p.Leu404Val)
c.2560C>G (p.Leu854Val)
c.2464-1492C>G (n.2464-1492C>G)
c.2551C>G (p.Leu851Val)
c.1852C>G (p.Leu618Val)
c.2599C>G (p.Leu867Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3770845G=CA2202950912CREBBPc.2605C= (p.Leu869=)
c.2491C= (p.Leu831=)
c.1210C= (p.Leu404=)
c.2560C= (p.Leu854=)
c.2464-1492C= (n.2464-1492C=)
c.2551C= (p.Leu851=)
c.1852C= (p.Leu618=)
c.2599C= (p.Leu867=)
16g.3770845G>TCA394551504CREBBPc.2605C>A (p.Leu869Ile)
c.2491C>A (p.Leu831Ile)
c.1210C>A (p.Leu404Ile)
c.2560C>A (p.Leu854Ile)
c.2464-1492C>A (n.2464-1492C>A)
c.2551C>A (p.Leu851Ile)
c.1852C>A (p.Leu618Ile)
c.2599C>A (p.Leu867Ile)
 dbSNP
16g.3770846A>CCA493395097CREBBPc.2604T>G (p.Ser868=)
c.2490T>G (p.Ser830=)
c.1209T>G (p.Ser403=)
c.2559T>G (p.Ser853=)
c.2464-1493T>G (n.2464-1493T>G)
c.2550T>G (p.Ser850=)
c.1851T>G (p.Ser617=)
c.2598T>G (p.Ser866=)
16g.3770846A>GCA493395098CREBBPc.2604T>C (p.Ser868=)
c.2490T>C (p.Ser830=)
c.1209T>C (p.Ser403=)
c.2559T>C (p.Ser853=)
c.2464-1493T>C (n.2464-1493T>C)
c.2550T>C (p.Ser850=)
c.1851T>C (p.Ser617=)
c.2598T>C (p.Ser866=)
 dbSNP
16g.3770846A>TCA493395099CREBBPc.2604T>A (p.Ser868=)
c.2490T>A (p.Ser830=)
c.1209T>A (p.Ser403=)
c.2559T>A (p.Ser853=)
c.2464-1493T>A (n.2464-1493T>A)
c.2550T>A (p.Ser850=)
c.1851T>A (p.Ser617=)
c.2598T>A (p.Ser866=)
 dbSNP COSMIC
16g.3770847G>ACA394551507CREBBPc.2603C>T (p.Ser868Phe)
c.2489C>T (p.Ser830Phe)
c.1208C>T (p.Ser403Phe)
c.2558C>T (p.Ser853Phe)
c.2464-1494C>T (n.2464-1494C>T)
c.2549C>T (p.Ser850Phe)
c.1850C>T (p.Ser617Phe)
c.2597C>T (p.Ser866Phe)
16g.3770847G>CCA394551509CREBBPc.2603C>G (p.Ser868Cys)
c.2489C>G (p.Ser830Cys)
c.1208C>G (p.Ser403Cys)
c.2558C>G (p.Ser853Cys)
c.2464-1494C>G (n.2464-1494C>G)
c.2549C>G (p.Ser850Cys)
c.1850C>G (p.Ser617Cys)
c.2597C>G (p.Ser866Cys)
 dbSNP gnomAD v4
16g.3770847G=CA2202950913CREBBPc.2603C= (p.Ser868=)
c.2489C= (p.Ser830=)
c.1208C= (p.Ser403=)
c.2558C= (p.Ser853=)
c.2464-1494C= (n.2464-1494C=)
c.2549C= (p.Ser850=)
c.1850C= (p.Ser617=)
c.2597C= (p.Ser866=)
16g.3770847G>TCA394551510CREBBPc.2603C>A (p.Ser868Tyr)
c.2489C>A (p.Ser830Tyr)
c.1208C>A (p.Ser403Tyr)
c.2558C>A (p.Ser853Tyr)
c.2464-1494C>A (n.2464-1494C>A)
c.2549C>A (p.Ser850Tyr)
c.1850C>A (p.Ser617Tyr)
c.2597C>A (p.Ser866Tyr)
16g.3770848A>CCA394551512CREBBPc.2602T>G (p.Ser868Ala)
c.2488T>G (p.Ser830Ala)
c.1207T>G (p.Ser403Ala)
c.2557T>G (p.Ser853Ala)
c.2464-1495T>G (n.2464-1495T>G)
c.2548T>G (p.Ser850Ala)
c.1849T>G (p.Ser617Ala)
c.2596T>G (p.Ser866Ala)
16g.3770848A>GCA394551514CREBBPc.2602T>C (p.Ser868Pro)
c.2488T>C (p.Ser830Pro)
c.1207T>C (p.Ser403Pro)
c.2557T>C (p.Ser853Pro)
c.2464-1495T>C (n.2464-1495T>C)
c.2548T>C (p.Ser850Pro)
c.1849T>C (p.Ser617Pro)
c.2596T>C (p.Ser866Pro)
 dbSNP
16g.3770848A>TCA394551516CREBBPc.2602T>A (p.Ser868Thr)
c.2488T>A (p.Ser830Thr)
c.1207T>A (p.Ser403Thr)
c.2557T>A (p.Ser853Thr)
c.2464-1495T>A (n.2464-1495T>A)
c.2548T>A (p.Ser850Thr)
c.1849T>A (p.Ser617Thr)
c.2596T>A (p.Ser866Thr)
 dbSNP
16g.3770849T>ACA7870066CREBBPc.2601A>T (p.Pro867=)
c.2487A>T (p.Pro829=)
c.1206A>T (p.Pro402=)
c.2556A>T (p.Pro852=)
c.2464-1496A>T (n.2464-1496A>T)
c.2547A>T (p.Pro849=)
c.1848A>T (p.Pro616=)
c.2595A>T (p.Pro865=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3770849T>CCA7870067CREBBPc.2601A>G (p.Pro867=)
c.2487A>G (p.Pro829=)
c.1206A>G (p.Pro402=)
c.2556A>G (p.Pro852=)
c.2464-1496A>G (n.2464-1496A>G)
c.2547A>G (p.Pro849=)
c.1848A>G (p.Pro616=)
c.2595A>G (p.Pro865=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3770849T>GCA493395103CREBBPc.2601A>C (p.Pro867=)
c.2487A>C (p.Pro829=)
c.1206A>C (p.Pro402=)
c.2556A>C (p.Pro852=)
c.2464-1496A>C (n.2464-1496A>C)
c.2547A>C (p.Pro849=)
c.1848A>C (p.Pro616=)
c.2595A>C (p.Pro865=)
16g.3770849T=CA2202950914CREBBPc.2601A= (p.Pro867=)
c.2487A= (p.Pro829=)
c.1206A= (p.Pro402=)
c.2556A= (p.Pro852=)
c.2464-1496A= (n.2464-1496A=)
c.2547A= (p.Pro849=)
c.1848A= (p.Pro616=)
c.2595A= (p.Pro865=)
16g.3770850G>ACA394551520CREBBPc.2600C>T (p.Pro867Leu)
c.2486C>T (p.Pro829Leu)
c.1205C>T (p.Pro402Leu)
c.2555C>T (p.Pro852Leu)
c.2464-1497C>T (n.2464-1497C>T)
c.2546C>T (p.Pro849Leu)
c.1847C>T (p.Pro616Leu)
c.2594C>T (p.Pro865Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.3770850G>CCA394551522CREBBPc.2600C>G (p.Pro867Arg)
c.2486C>G (p.Pro829Arg)
c.1205C>G (p.Pro402Arg)
c.2555C>G (p.Pro852Arg)
c.2464-1497C>G (n.2464-1497C>G)
c.2546C>G (p.Pro849Arg)
c.1847C>G (p.Pro616Arg)
c.2594C>G (p.Pro865Arg)
 dbSNP
16g.3770850G=CA2202950916CREBBPc.2600C= (p.Pro867=)
c.2486C= (p.Pro829=)
c.1205C= (p.Pro402=)
c.2555C= (p.Pro852=)
c.2464-1497C= (n.2464-1497C=)
c.2546C= (p.Pro849=)
c.1847C= (p.Pro616=)
c.2594C= (p.Pro865=)
16g.3770850G>TCA394551524CREBBPc.2600C>A (p.Pro867Gln)
c.2486C>A (p.Pro829Gln)
c.1205C>A (p.Pro402Gln)
c.2555C>A (p.Pro852Gln)
c.2464-1497C>A (n.2464-1497C>A)
c.2546C>A (p.Pro849Gln)
c.1847C>A (p.Pro616Gln)
c.2594C>A (p.Pro865Gln)
16g.3770851G>ACA394551526CREBBPc.2599C>T (p.Pro867Ser)
c.2485C>T (p.Pro829Ser)
c.1204C>T (p.Pro402Ser)
c.2554C>T (p.Pro852Ser)
c.2464-1498C>T (n.2464-1498C>T)
c.2545C>T (p.Pro849Ser)
c.1846C>T (p.Pro616Ser)
c.2593C>T (p.Pro865Ser)
 dbSNP gnomAD v4
16g.3770851G>CCA394551530CREBBPc.2599C>G (p.Pro867Ala)
c.2485C>G (p.Pro829Ala)
c.1204C>G (p.Pro402Ala)
c.2554C>G (p.Pro852Ala)
c.2464-1498C>G (n.2464-1498C>G)
c.2545C>G (p.Pro849Ala)
c.1846C>G (p.Pro616Ala)
c.2593C>G (p.Pro865Ala)
 dbSNP
16g.3770851G>TCA394551528CREBBPc.2599C>A (p.Pro867Thr)
c.2485C>A (p.Pro829Thr)
c.1204C>A (p.Pro402Thr)
c.2554C>A (p.Pro852Thr)
c.2464-1498C>A (n.2464-1498C>A)
c.2545C>A (p.Pro849Thr)
c.1846C>A (p.Pro616Thr)
c.2593C>A (p.Pro865Thr)
 dbSNP gnomAD v4
16g.3770852C>ACA7870068CREBBPc.2598G>T (p.Met866Ile)
c.2484G>T (p.Met828Ile)
c.1203G>T (p.Met401Ile)
c.2553G>T (p.Met851Ile)
c.2464-1499G>T (n.2464-1499G>T)
c.2544G>T (p.Met848Ile)
c.1845G>T (p.Met615Ile)
c.2592G>T (p.Met864Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.3770852C=CA2202950920CREBBPc.2598G= (p.Met866=)
c.2484G= (p.Met828=)
c.1203G= (p.Met401=)
c.2553G= (p.Met851=)
c.2464-1499G= (n.2464-1499G=)
c.2544G= (p.Met848=)
c.1845G= (p.Met615=)
c.2592G= (p.Met864=)
16g.3770852C>GCA394551532CREBBPc.2598G>C (p.Met866Ile)
c.2484G>C (p.Met828Ile)
c.1203G>C (p.Met401Ile)
c.2553G>C (p.Met851Ile)
c.2464-1499G>C (n.2464-1499G>C)
c.2544G>C (p.Met848Ile)
c.1845G>C (p.Met615Ile)
c.2592G>C (p.Met864Ile)
 dbSNP
16g.3770852C>TCA394551534CREBBPc.2598G>A (p.Met866Ile)
c.2484G>A (p.Met828Ile)
c.1203G>A (p.Met401Ile)
c.2553G>A (p.Met851Ile)
c.2464-1499G>A (n.2464-1499G>A)
c.2544G>A (p.Met848Ile)
c.1845G>A (p.Met615Ile)
c.2592G>A (p.Met864Ile)
 dbSNP
16g.3770853A>CCA394551535CREBBPc.2597T>G (p.Met866Arg)
c.2483T>G (p.Met828Arg)
c.1202T>G (p.Met401Arg)
c.2552T>G (p.Met851Arg)
c.2464-1500T>G (n.2464-1500T>G)
c.2543T>G (p.Met848Arg)
c.1844T>G (p.Met615Arg)
c.2591T>G (p.Met864Arg)
 dbSNP
16g.3770853A>GCA394551536CREBBPc.2597T>C (p.Met866Thr)
c.2483T>C (p.Met828Thr)
c.1202T>C (p.Met401Thr)
c.2552T>C (p.Met851Thr)
c.2464-1500T>C (n.2464-1500T>C)
c.2543T>C (p.Met848Thr)
c.1844T>C (p.Met615Thr)
c.2591T>C (p.Met864Thr)
 dbSNP COSMIC
16g.3770853A>TCA394551538CREBBPc.2597T>A (p.Met866Lys)
c.2483T>A (p.Met828Lys)
c.1202T>A (p.Met401Lys)
c.2552T>A (p.Met851Lys)
c.2464-1500T>A (n.2464-1500T>A)
c.2543T>A (p.Met848Lys)
c.1844T>A (p.Met615Lys)
c.2591T>A (p.Met864Lys)
 dbSNP
16g.3770854T>ACA394551540CREBBPc.2596A>T (p.Met866Leu)
c.2482A>T (p.Met828Leu)
c.1201A>T (p.Met401Leu)
c.2551A>T (p.Met851Leu)
c.2464-1501A>T (n.2464-1501A>T)
c.2542A>T (p.Met848Leu)
c.1843A>T (p.Met615Leu)
c.2590A>T (p.Met864Leu)
 dbSNP
16g.3770854T>CCA7870069CREBBPc.2596A>G (p.Met866Val)
c.2482A>G (p.Met828Val)
c.1201A>G (p.Met401Val)
c.2551A>G (p.Met851Val)
c.2464-1501A>G (n.2464-1501A>G)
c.2542A>G (p.Met848Val)
c.1843A>G (p.Met615Val)
c.2590A>G (p.Met864Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.3770854T>GCA394551543CREBBPc.2596A>C (p.Met866Leu)
c.2482A>C (p.Met828Leu)
c.1201A>C (p.Met401Leu)
c.2551A>C (p.Met851Leu)
c.2464-1501A>C (n.2464-1501A>C)
c.2542A>C (p.Met848Leu)
c.1843A>C (p.Met615Leu)
c.2590A>C (p.Met864Leu)
 dbSNP
16g.3770854T=CA2202950921CREBBPc.2596A= (p.Met866=)
c.2482A= (p.Met828=)
c.1201A= (p.Met401=)
c.2551A= (p.Met851=)
c.2464-1501A= (n.2464-1501A=)
c.2542A= (p.Met848=)
c.1843A= (p.Met615=)
c.2590A= (p.Met864=)

Number of alleles fetched