Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.3770748_3770759del | CA720703450 | CREBBP | c.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 |
16 | g.3770757G>A | CA394551148 | CREBBP | c.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 |
16 | g.3770757G>C | CA394551150 | CREBBP | c.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 |
16 | g.3770757G>T | CA394551151 | CREBBP | c.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) | |
16 | g.3770758T>A | CA394551155 | CREBBP | c.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 |
16 | g.3770758T>C | CA394551157 | CREBBP | c.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 |
16 | g.3770758T>G | CA394551154 | CREBBP | c.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 |
16 | g.3770759C>A | CA394551162 | CREBBP | c.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 |
16 | g.3770759C>G | CA394551160 | CREBBP | c.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 |
16 | g.3770759C>T | CA493394973 | CREBBP | c.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 |
16 | g.3770759_3770771delinsCTGCCCGGAAGAC | CA2202950865 | CREBBP | c.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=) | |
16 | g.3770760T>A | CA394551164 | CREBBP | c.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 |
16 | g.3770760T>C | CA394551166 | CREBBP | c.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 |
16 | g.3770760T>G | CA394551168 | CREBBP | c.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 |
16 | g.3770760_3770771delinsGG | CA277190 | CREBBP | c.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 |
16 | g.3770761G>A | CA394551170 | CREBBP | c.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 |
16 | g.3770761G>C | CA394551172 | CREBBP | c.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 |
16 | g.3770761G>T | CA394551174 | CREBBP | c.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 |
16 | g.3770762C>A | CA493394977 | CREBBP | c.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 |
16 | g.3770762C>G | CA493394979 | CREBBP | c.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 |
16 | g.3770762C>T | CA493394981 | CREBBP | c.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 |
16 | g.3770763C>A | CA394551176 | CREBBP | c.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 |
16 | g.3770763C>G | CA394551177 | CREBBP | c.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 |
16 | g.3770763C>T | CA394551178 | CREBBP | c.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 |
16 | g.3770764C>A | CA394551180 | CREBBP | c.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 |
16 | g.3770764C= | CA2202950867 | CREBBP | c.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=) | |
16 | g.3770764C>G | CA7870049 | CREBBP | c.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 |
16 | g.3770764C>T | CA394551183 | CREBBP | c.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 |
16 | g.3770764_3770765delinsCG | CA2202950866 | CREBBP | c.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=) | |
16 | g.3770765G>A | CA7870050 | CREBBP | c.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 |
16 | g.3770765G>C | CA493394985 | CREBBP | c.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 |
16 | g.3770765G= | CA2202950868 | CREBBP | c.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=) | |
16 | g.3770765G>T | CA493394987 | CREBBP | c.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 |
16 | g.3770766del | CA275010 | CREBBP | c.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 |
16 | g.3770766G>A | CA394551187 | CREBBP | c.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 |
16 | g.3770766G>C | CA394551188 | CREBBP | c.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 |
16 | g.3770766G>T | CA394551190 | CREBBP | c.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 |
16 | g.3770767A>C | CA394551193 | CREBBP | c.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) | |
16 | g.3770767A>G | CA394551194 | CREBBP | c.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 |
16 | g.3770767A>T | CA394551195 | CREBBP | c.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 |
16 | g.3770768A= | CA2202950870 | CREBBP | c.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=) | |
16 | g.3770768A>C | CA493394993 | CREBBP | c.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=) | |
16 | g.3770768A>G | CA493394994 | CREBBP | c.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 |
16 | g.3770768A>T | CA493394995 | CREBBP | c.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 |
16 | g.3770768_3770771delinsAGAC | CA2202950869 | CREBBP | c.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=) | |
16 | g.3770769G>A | CA394551198 | CREBBP | c.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 |
16 | g.3770769G>C | CA394551200 | CREBBP | c.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 |
16 | g.3770769G>T | CA394551201 | CREBBP | c.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 |
16 | g.3770769dup | CA2841701431 | CREBBP | c.2681dup (p.Ser895PhefsTer?) c.2567dup (p.Ser857PhefsTer?) c.1286dup (p.Ser430PhefsTer?) c.2636dup (p.Ser880PhefsTer?) c.2464-1416dup (n.2464-1416dup) c.2627dup (p.Ser877PhefsTer?) c.1928dup (p.Ser644PhefsTer?) c.2675dup (p.Ser893PhefsTer?) | |
16 | g.3770772_3770774del | CA7870051 | CREBBP | c.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 |
16 | g.3770770A>C | CA394551203 | CREBBP | c.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 |
16 | g.3770770A>G | CA394551205 | CREBBP | c.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 |
16 | g.3770770A>T | CA394551207 | CREBBP | c.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 |
16 | g.3770771C>A | CA493395000 | CREBBP | c.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 |
16 | g.3770771C= | CA2202950871 | CREBBP | c.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=) | |
16 | g.3770771C>G | CA493395001 | CREBBP | c.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 |
16 | g.3770771C>T | CA271377 | CREBBP | c.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 |
16 | g.3770772G>A | CA148111 | CREBBP | c.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 |
16 | g.3770772G>C | CA276969058 | CREBBP | c.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 |
16 | g.3770772G= | CA2202950872 | CREBBP | c.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=) | |
16 | g.3770772G>T | CA394551211 | CREBBP | c.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 |
16 | g.3770773A>C | CA394551214 | CREBBP | c.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 |
16 | g.3770773A>G | CA394551216 | CREBBP | c.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 |
16 | g.3770773A>T | CA394551217 | CREBBP | c.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 |
16 | g.3770774C>A | CA493395005 | CREBBP | c.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 |
16 | g.3770774C>G | CA493395006 | CREBBP | c.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 |
16 | g.3770774C>T | CA493395007 | CREBBP | c.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 |
16 | g.3770775A= | CA2202950873 | CREBBP | c.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=) | |
16 | g.3770775A>C | CA394551223 | CREBBP | c.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 |
16 | g.3770775A>G | CA394551222 | CREBBP | c.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 |
16 | g.3770775A>T | CA394551220 | CREBBP | c.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 |
16 | g.3770776C>A | CA394551225 | CREBBP | c.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 |
16 | g.3770776C>G | CA394551227 | CREBBP | c.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 |
16 | g.3770776C>T | CA394551229 | CREBBP | c.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 |
16 | g.3770777A>C | CA493395008 | CREBBP | c.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 |
16 | g.3770777A>G | CA493395009 | CREBBP | c.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 |
16 | g.3770777A>T | CA493395010 | CREBBP | c.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 |
16 | g.3770778G>A | CA394551231 | CREBBP | c.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 |
16 | g.3770778G>C | CA394551233 | CREBBP | c.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 |
16 | g.3770778G>T | CA394551235 | CREBBP | c.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 |
16 | g.3770779G>A | CA394551238 | CREBBP | c.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 |
16 | g.3770779G>C | CA394551241 | CREBBP | c.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 |
16 | g.3770779G>T | CA394551239 | CREBBP | c.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 |
16 | g.3770780A= | CA2202950874 | CREBBP | c.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=) | |
16 | g.3770780A>C | CA493395011 | CREBBP | c.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 |
16 | g.3770780A>G | CA493395012 | CREBBP | c.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 |
16 | g.3770780A>T | CA493395013 | CREBBP | c.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 |
16 | g.3770781G>A | CA394551243 | CREBBP | c.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 |
16 | g.3770781G>C | CA394551244 | CREBBP | c.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 |
16 | g.3770781G>T | CA394551246 | CREBBP | c.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 |
16 | g.3770782_3770784del | CA645593154 | CREBBP | c.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 |
16 | g.3770782T>A | CA7870052 | CREBBP | c.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 |
16 | g.3770782T>C | CA394551249 | CREBBP | c.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 |
16 | g.3770782T>G | CA7870053 | CREBBP | c.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 |
16 | g.3770782T= | CA2202950875 | CREBBP | c.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=) | |
16 | g.3770783T>A | CA493395014 | CREBBP | c.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 |
16 | g.3770783T>C | CA493395015 | CREBBP | c.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 |
16 | g.3770783T>G | CA493395016 | CREBBP | c.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 |
16 | g.3770784G>A | CA394551253 | CREBBP | c.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 |
16 | g.3770784G>C | CA394551254 | CREBBP | c.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 |
16 | g.3770784G= | CA2202950876 | CREBBP | c.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=) | |
16 | g.3770784G>T | CA394551256 | CREBBP | c.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 |
16 | g.3770785A= | CA2202950877 | CREBBP | c.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=) | |
16 | g.3770785A>C | CA394551259 | CREBBP | c.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 |
16 | g.3770785A>G | CA7870054 | CREBBP | c.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 |
16 | g.3770785A>T | CA394551261 | CREBBP | c.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 |
16 | g.3770786T>A | CA493395017 | CREBBP | c.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=) | |
16 | g.3770786T>C | CA493395019 | CREBBP | c.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 |
16 | g.3770786T>G | CA493395018 | CREBBP | c.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=) | |
16 | g.3770786T= | CA2202950878 | CREBBP | c.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=) | |
16 | g.3770787G>A | CA7870055 | CREBBP | c.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 |
16 | g.3770787G>C | CA394551266 | CREBBP | c.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 |
16 | g.3770787G= | CA2202950879 | CREBBP | c.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=) | |
16 | g.3770787G>T | CA394551263 | CREBBP | c.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 |
16 | g.3770787_3770800dup | CA2695222749 | CREBBP | c.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?) | |
16 | g.3770788G>A | CA394551270 | CREBBP | c.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 |
16 | g.3770788G>C | CA394551268 | CREBBP | c.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 |
16 | g.3770788G>T | CA394551272 | CREBBP | c.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 |
16 | g.3770789C>A | CA394551274 | CREBBP | c.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 |
16 | g.3770789C>G | CA394551276 | CREBBP | c.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 |
16 | g.3770789C>T | CA493395023 | CREBBP | c.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 |
16 | g.3770789dup | CA2841701432 | CREBBP | c.2661dup (p.Pro888AlafsTer?) c.2547dup (p.Pro850AlafsTer?) c.1266dup (p.Pro423AlafsTer?) c.2616dup (p.Pro873AlafsTer?) c.2464-1436dup (n.2464-1436dup) c.2607dup (p.Pro870AlafsTer?) c.1908dup (p.Pro637AlafsTer?) c.2655dup (p.Pro886AlafsTer?) | |
16 | g.3770790T>A | CA394551277 | CREBBP | c.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 |
16 | g.3770790T>C | CA394551281 | CREBBP | c.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 |
16 | g.3770790T>G | CA394551279 | CREBBP | c.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 |
16 | g.3770791G>A | CA16607300 | CREBBP | c.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 |
16 | g.3770791G>C | CA394551284 | CREBBP | c.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 |
16 | g.3770791G= | CA2202950880 | CREBBP | c.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=) | |
16 | g.3770791G>T | CA394551285 | CREBBP | c.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 |
16 | g.3770792A= | CA2202950881 | CREBBP | c.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=) | |
16 | g.3770792A>C | CA493395025 | CREBBP | c.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=) | |
16 | g.3770792A>G | CA493395026 | CREBBP | c.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 |
16 | g.3770792A>T | CA493395027 | CREBBP | c.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 |
16 | g.3770793G>A | CA394551287 | CREBBP | c.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) | |
16 | g.3770793G>C | CA394551289 | CREBBP | c.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 |
16 | g.3770793G>T | CA394551291 | CREBBP | c.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) | |
16 | g.3770794T>A | CA394551293 | CREBBP | c.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) | |
16 | g.3770794T>C | CA394551294 | CREBBP | c.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) | |
16 | g.3770794T>G | CA394551295 | CREBBP | c.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) | |
16 | g.3770795G>A | CA493395031 | CREBBP | c.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 |
16 | g.3770795G>C | CA493395030 | CREBBP | c.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 |
16 | g.3770795G= | CA2202950882 | CREBBP | c.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=) | |
16 | g.3770795G>T | CA493395029 | CREBBP | c.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 |
16 | g.3770796G>A | CA394551297 | CREBBP | c.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 |
16 | g.3770796G>C | CA394551299 | CREBBP | c.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 |
16 | g.3770796G>T | CA394551301 | CREBBP | c.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 |
16 | g.3770797G>A | CA7870056 | CREBBP | c.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 |
16 | g.3770797G>C | CA394551303 | CREBBP | c.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 |
16 | g.3770797G= | CA2202950883 | CREBBP | c.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=) | |
16 | g.3770797G>T | CA394551305 | CREBBP | c.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 |
16 | g.3770798A= | CA2202950884 | CREBBP | c.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=) | |
16 | g.3770798A>C | CA493395034 | CREBBP | c.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=) | |
16 | g.3770798A>G | CA276969069 | CREBBP | c.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 |
16 | g.3770798A>T | CA493395035 | CREBBP | c.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 |
16 | g.3770799G>A | CA394551309 | CREBBP | c.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 |
16 | g.3770799G>C | CA394551311 | CREBBP | c.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 |
16 | g.3770799G= | CA2202950885 | CREBBP | c.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=) | |
16 | g.3770799G>T | CA394551312 | CREBBP | c.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) | |
16 | g.3770800C>A | CA394551315 | CREBBP | c.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 |
16 | g.3770800C>G | CA394551317 | CREBBP | c.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 |
16 | g.3770800C>T | CA394551318 | CREBBP | c.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 |
16 | g.3770801T>A | CA493395037 | CREBBP | c.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=) | |
16 | g.3770801T>C | CA493395038 | CREBBP | c.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=) | |
16 | g.3770801T>G | CA493395039 | CREBBP | c.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=) | |
16 | g.3770802G>A | CA394551321 | CREBBP | c.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 |
16 | g.3770802G>C | CA394551323 | CREBBP | c.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 |
16 | g.3770802G= | CA2202950886 | CREBBP | c.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=) | |
16 | g.3770802G>T | CA394551325 | CREBBP | c.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 |
16 | g.3770807_3770810del | CA2731731188 | CREBBP | c.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 |
16 | g.3770803C>A | CA394551330 | CREBBP | c.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 |
16 | g.3770803C= | CA2202950887 | CREBBP | c.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=) | |
16 | g.3770803C>G | CA394551328 | CREBBP | c.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 |
16 | g.3770803C>T | CA394551327 | CREBBP | c.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 |
16 | g.3770804T>A | CA493395040 | CREBBP | c.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 |
16 | g.3770804T>C | CA493395041 | CREBBP | c.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=) | |
16 | g.3770804T>G | CA493395042 | CREBBP | c.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=) | |
16 | g.3770805G>A | CA7870057 | CREBBP | c.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 |
16 | g.3770805G>C | CA394551333 | CREBBP | c.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 |
16 | g.3770805G= | CA2202950888 | CREBBP | c.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=) | |
16 | g.3770805G>T | CA394551335 | CREBBP | c.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 |
16 | g.3770806G>A | CA7870058 | CREBBP | c.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 |
16 | g.3770806G>C | CA394551338 | CREBBP | c.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 |
16 | g.3770806G= | CA2202950889 | CREBBP | c.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=) | |
16 | g.3770806G>T | CA394551340 | CREBBP | c.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 |
16 | g.3770807C>A | CA394551344 | CREBBP | c.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 |
16 | g.3770807C= | CA2202950890 | CREBBP | c.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=) | |
16 | g.3770807C>G | CA394551342 | CREBBP | c.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 |
16 | g.3770807C>T | CA493395046 | CREBBP | c.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 |
16 | g.3770808T>A | CA394551346 | CREBBP | c.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 |
16 | g.3770808T>C | CA394551347 | CREBBP | c.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) | |
16 | g.3770808T>G | CA394551349 | CREBBP | c.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) | |
16 | g.3770809G>A | CA394551352 | CREBBP | c.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 |
16 | g.3770809G>C | CA394551353 | CREBBP | c.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 |
16 | g.3770809G>T | CA394551355 | CREBBP | c.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 |
16 | g.3770812del | CA2839376207 | CREBBP | c.2641del (p.Gln881SerfsTer?) c.2527del (p.Gln843SerfsTer?) c.1246del (p.Gln416SerfsTer?) c.2596del (p.Gln866SerfsTer?) c.2464-1456del (n.2464-1456del) c.2587del (p.Gln863SerfsTer?) c.1888del (p.Gln630SerfsTer?) c.2635del (p.Gln879SerfsTer?) | |
16 | g.3770810G>A | CA493395049 | CREBBP | c.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 |
16 | g.3770810G>C | CA493395051 | CREBBP | c.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 |
16 | g.3770810G>T | CA493395053 | CREBBP | c.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 |
16 | g.3770811G>A | CA394551357 | CREBBP | c.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 |
16 | g.3770811G>C | CA394551361 | CREBBP | c.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 |
16 | g.3770811G>T | CA394551359 | CREBBP | c.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 |
16 | g.3770812G>A | CA394551364 | CREBBP | c.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 |
16 | g.3770812G>C | CA394551365 | CREBBP | c.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 |
16 | g.3770812G= | CA2202950891 | CREBBP | c.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=) | |
16 | g.3770812G>T | CA394551366 | CREBBP | c.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 |
16 | g.3770813A= | CA2202950892 | CREBBP | c.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=) | |
16 | g.3770813A>C | CA493395055 | CREBBP | c.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 |
16 | g.3770813A>G | CA7870059 | CREBBP | c.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 |
16 | g.3770813A>T | CA493395056 | CREBBP | c.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=) | |
16 | g.3770814G>A | CA394551370 | CREBBP | c.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) | |
16 | g.3770814G>C | CA394551372 | CREBBP | c.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) | |
16 | g.3770814G>T | CA394551373 | CREBBP | c.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 |
16 | g.3770815G>A | CA7870060 | CREBBP | c.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 |
16 | g.3770815G>C | CA394551376 | CREBBP | c.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 |
16 | g.3770815G= | CA2202950893 | CREBBP | c.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=) | |
16 | g.3770815G>T | CA394551378 | CREBBP | c.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 |
16 | g.3770816A= | CA2202950894 | CREBBP | c.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=) | |
16 | g.3770816A>C | CA493395058 | CREBBP | c.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=) | |
16 | g.3770816A>G | CA493395060 | CREBBP | c.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 |
16 | g.3770816A>T | CA493395059 | CREBBP | c.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 |
16 | g.3770817G>A | CA394551383 | CREBBP | c.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 |
16 | g.3770817G>C | CA276969078 | CREBBP | c.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 |
16 | g.3770817G= | CA2202950895 | CREBBP | c.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=) | |
16 | g.3770817G>T | CA394551380 | CREBBP | c.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) | |
16 | g.3770818T>A | CA394551385 | CREBBP | c.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 |
16 | g.3770818T>C | CA394551387 | CREBBP | c.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 |
16 | g.3770818T>G | CA394551389 | CREBBP | c.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 |
16 | g.3770818T= | CA2202950896 | CREBBP | c.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=) | |
16 | g.3770819C>A | CA394551391 | CREBBP | c.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 |
16 | g.3770819C>G | CA394551393 | CREBBP | c.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 |
16 | g.3770819C>T | CA394551395 | CREBBP | c.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 |
16 | g.3770820A>C | CA394551400 | CREBBP | c.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 |
16 | g.3770820A>G | CA394551398 | CREBBP | c.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) | |
16 | g.3770820A>T | CA394551396 | CREBBP | c.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 |
16 | g.3770821T>A | CA394551402 | CREBBP | c.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 |
16 | g.3770821T>C | CA394551404 | CREBBP | c.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) | |
16 | g.3770821T>G | CA394551406 | CREBBP | c.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) | |
16 | g.3770821T= | CA2202950897 | CREBBP | c.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=) | |
16 | g.3770822C>A | CA493395066 | CREBBP | c.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 |
16 | g.3770822C>G | CA493395067 | CREBBP | c.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 |
16 | g.3770822C>T | CA493395068 | CREBBP | c.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 |
16 | g.3770823C>A | CA394551408 | CREBBP | c.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 |
16 | g.3770823C= | CA2202950898 | CREBBP | c.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=) | |
16 | g.3770823C>G | CA394551409 | CREBBP | c.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 |
16 | g.3770823C>T | CA394551411 | CREBBP | c.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 |
16 | g.3770824C>A | CA394551412 | CREBBP | c.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 |
16 | g.3770824C= | CA2202950899 | CREBBP | c.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=) | |
16 | g.3770824C>G | CA394551414 | CREBBP | c.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 |
16 | g.3770824C>T | CA7870061 | CREBBP | c.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 |
16 | g.3770825A= | CA2202950900 | CREBBP | c.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=) | |
16 | g.3770825A>C | CA493395071 | CREBBP | c.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 |
16 | g.3770825A>G | CA493395072 | CREBBP | c.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 |
16 | g.3770825A>T | CA493395073 | CREBBP | c.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=) | |
16 | g.3770826G>A | CA394551416 | CREBBP | c.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 |
16 | g.3770826G>C | CA394551418 | CREBBP | c.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 |
16 | g.3770826G>T | CA394551420 | CREBBP | c.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 |
16 | g.3770827G>A | CA394551422 | CREBBP | c.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 |
16 | g.3770827G>C | CA394551424 | CREBBP | c.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 |
16 | g.3770827G= | CA2202950901 | CREBBP | c.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=) | |
16 | g.3770827G>T | CA394551426 | CREBBP | c.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 |
16 | g.3770828T>A | CA493395077 | CREBBP | c.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=) | |
16 | g.3770828T>C | CA276969084 | CREBBP | c.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 |
16 | g.3770828T>G | CA493395078 | CREBBP | c.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 |
16 | g.3770828T= | CA2202950902 | CREBBP | c.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=) | |
16 | g.3770829G>A | CA394551428 | CREBBP | c.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) | |
16 | g.3770829G>C | CA394551430 | CREBBP | c.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) | |
16 | g.3770829G>T | CA394551432 | CREBBP | c.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 |
16 | g.3770830del | CA2695222750 | CREBBP | c.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) | |
16 | g.3770830G>A | CA394551434 | CREBBP | c.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 |
16 | g.3770830G>C | CA394551436 | CREBBP | c.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 |
16 | g.3770830G>T | CA394551438 | CREBBP | c.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) | |
16 | g.3770831T>A | CA493395082 | CREBBP | c.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 |
16 | g.3770831T>C | CA493395083 | CREBBP | c.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=) | |
16 | g.3770831T>G | CA493395084 | CREBBP | c.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 |
16 | g.3770832G>A | CA394551440 | CREBBP | c.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 |
16 | g.3770832G>C | CA394551444 | CREBBP | c.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 |
16 | g.3770832G>T | CA394551442 | CREBBP | c.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 |
16 | g.3770833T>A | CA394551446 | CREBBP | c.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 |
16 | g.3770833T>C | CA7870062 | CREBBP | c.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 |
16 | g.3770833T>G | CA394551449 | CREBBP | c.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 |
16 | g.3770833T= | CA2202950903 | CREBBP | c.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=) | |
16 | g.3770834C>A | CA493395085 | CREBBP | c.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 |
16 | g.3770834C= | CA2202950904 | CREBBP | c.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=) | |
16 | g.3770834C>G | CA493395086 | CREBBP | c.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 |
16 | g.3770834C>T | CA7870063 | CREBBP | c.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 |
16 | g.3770834dup | CA2695222751 | CREBBP | c.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?) | |
16 | g.3770835G>A | CA7870064 | CREBBP | c.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 |
16 | g.3770835G>C | CA394551453 | CREBBP | c.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 |
16 | g.3770835G= | CA2202950905 | CREBBP | c.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=) | |
16 | g.3770835G>T | CA394551455 | CREBBP | c.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 |
16 | g.3770836T>A | CA394551457 | CREBBP | c.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 |
16 | g.3770836T>C | CA394551459 | CREBBP | c.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 |
16 | g.3770836T>G | CA394551461 | CREBBP | c.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 |
16 | g.3770836dup | CA2841701433 | CREBBP | c.2614dup (p.Thr872AsnfsTer?) c.2500dup (p.Thr834AsnfsTer?) c.1219dup (p.Thr407AsnfsTer?) c.2569dup (p.Thr857AsnfsTer?) c.2464-1483dup (n.2464-1483dup) c.2560dup (p.Thr854AsnfsTer?) c.1861dup (p.Thr621AsnfsTer?) c.2608dup (p.Thr870AsnfsTer?) | |
16 | g.3770837G>A | CA276969093 | CREBBP | c.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 |
16 | g.3770837G>C | CA394551464 | CREBBP | c.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 |
16 | g.3770837G= | CA2202950906 | CREBBP | c.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=) | |
16 | g.3770837G>T | CA394551466 | CREBBP | c.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) | |
16 | g.3770838_3770845del | CA2631426193 | CREBBP | c.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 |
16 | g.3770838T>A | CA394551468 | CREBBP | c.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 |
16 | g.3770838T>C | CA394551472 | CREBBP | c.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) | |
16 | g.3770838T>G | CA394551470 | CREBBP | c.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 |
16 | g.3770839G>A | CA394551474 | CREBBP | c.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 |
16 | g.3770839G>C | CA394551476 | CREBBP | c.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 |
16 | g.3770839G>T | CA394551478 | CREBBP | c.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 |
16 | g.3770840C>A | CA394551480 | CREBBP | c.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 |
16 | g.3770840C>G | CA394551482 | CREBBP | c.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 |
16 | g.3770840C>T | CA493395091 | CREBBP | c.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 |
16 | g.3770841T>A | CA394551484 | CREBBP | c.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 |
16 | g.3770841T>C | CA394551486 | CREBBP | c.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) | |
16 | g.3770841T>G | CA394551487 | CREBBP | c.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) | |
16 | g.3770842G>A | CA394551490 | CREBBP | c.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 |
16 | g.3770842G>C | CA394551492 | CREBBP | c.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) | |
16 | g.3770842G= | CA2202950908 | CREBBP | c.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=) | |
16 | g.3770842G>T | CA394551493 | CREBBP | c.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 |
16 | g.3770842_3770844delinsGGA | CA2202950907 | CREBBP | c.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=) | |
16 | g.3770843G>A | CA493395093 | CREBBP | c.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 |
16 | g.3770843G>C | CA276969095 | CREBBP | c.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 |
16 | g.3770843G= | CA2202950909 | CREBBP | c.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=) | |
16 | g.3770843G>T | CA493395095 | CREBBP | c.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 |
16 | g.3770847_3770848del | CA271376 | CREBBP | c.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 |
16 | g.3770844A= | CA2202950910 | CREBBP | c.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=) | |
16 | g.3770844A>C | CA394551497 | CREBBP | c.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) | |
16 | g.3770844A>G | CA271374 | CREBBP | c.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 |
16 | g.3770844A>T | CA394551499 | CREBBP | c.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 |
16 | g.3770845G>A | CA394551502 | CREBBP | c.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 |
16 | g.3770845G>C | CA7870065 | CREBBP | c.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 |
16 | g.3770845G= | CA2202950912 | CREBBP | c.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=) | |
16 | g.3770845G>T | CA394551504 | CREBBP | c.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 |
16 | g.3770846A>C | CA493395097 | CREBBP | c.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=) | |
16 | g.3770846A>G | CA493395098 | CREBBP | c.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 |
16 | g.3770846A>T | CA493395099 | CREBBP | c.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 |
16 | g.3770847G>A | CA394551507 | CREBBP | c.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) | |
16 | g.3770847G>C | CA394551509 | CREBBP | c.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 |
16 | g.3770847G= | CA2202950913 | CREBBP | c.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=) | |
16 | g.3770847G>T | CA394551510 | CREBBP | c.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) | |
16 | g.3770848A>C | CA394551512 | CREBBP | c.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) | |
16 | g.3770848A>G | CA394551514 | CREBBP | c.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 |
16 | g.3770848A>T | CA394551516 | CREBBP | c.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 |
16 | g.3770849T>A | CA7870066 | CREBBP | c.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 |
16 | g.3770849T>C | CA7870067 | CREBBP | c.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 |
16 | g.3770849T>G | CA493395103 | CREBBP | c.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=) | |
16 | g.3770849T= | CA2202950914 | CREBBP | c.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=) | |
16 | g.3770850G>A | CA394551520 | CREBBP | c.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 |
16 | g.3770850G>C | CA394551522 | CREBBP | c.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 |
16 | g.3770850G= | CA2202950916 | CREBBP | c.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=) | |
16 | g.3770850G>T | CA394551524 | CREBBP | c.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) | |
16 | g.3770851G>A | CA394551526 | CREBBP | c.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 |
16 | g.3770851G>C | CA394551530 | CREBBP | c.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 |
16 | g.3770851G>T | CA394551528 | CREBBP | c.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 |
16 | g.3770852C>A | CA7870068 | CREBBP | c.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 |
16 | g.3770852C= | CA2202950920 | CREBBP | c.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=) | |
16 | g.3770852C>G | CA394551532 | CREBBP | c.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 |
16 | g.3770852C>T | CA394551534 | CREBBP | c.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 |
16 | g.3770853A>C | CA394551535 | CREBBP | c.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 |
16 | g.3770853A>G | CA394551536 | CREBBP | c.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 |
16 | g.3770853A>T | CA394551538 | CREBBP | c.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 |
16 | g.3770854T>A | CA394551540 | CREBBP | c.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 |
16 | g.3770854T>C | CA7870069 | CREBBP | c.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 |
16 | g.3770854T>G | CA394551543 | CREBBP | c.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 |
16 | g.3770854T= | CA2202950921 | CREBBP | c.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=) | |
16 | g.3770855G>A | CA493395105 | CREBBP | c.2595C>T (p.Gly865=) c.2481C>T (p.Gly827=) c.1200C>T (p.Gly400=) c.2550C>T (p.Gly850=) c.2464-1502C>T (n.2464-1502C>T) c.2541C>T (p.Gly847=) c.1842C>T (p.Gly614=) c.2589C>T (p.Gly863=) | |
16 | g.3770855G>C | CA493395107 | CREBBP | c.2595C>G (p.Gly865=) c.2481C>G (p.Gly827=) c.1200C>G (p.Gly400=) c.2550C>G (p.Gly850=) c.2464-1502C>G (n.2464-1502C>G) c.2541C>G (p.Gly847=) c.1842C>G (p.Gly614=) c.2589C>G (p.Gly863=) | |
16 | g.3770855G>T | CA493395106 | CREBBP | c.2595C>A (p.Gly865=) c.2481C>A (p.Gly827=) c.1200C>A (p.Gly400=) c.2550C>A (p.Gly850=) c.2464-1502C>A (n.2464-1502C>A) c.2541C>A (p.Gly847=) c.1842C>A (p.Gly614=) c.2589C>A (p.Gly863=) | gnomAD v4 |
16 | g.3770856C>A | CA394551547 | CREBBP | c.2594G>T (p.Gly865Val) c.2480G>T (p.Gly827Val) c.1199G>T (p.Gly400Val) c.2549G>T (p.Gly850Val) c.2464-1503G>T (n.2464-1503G>T) c.2540G>T (p.Gly847Val) c.1841G>T (p.Gly614Val) c.2588G>T (p.Gly863Val) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.3770856C= | CA2202950922 | CREBBP | c.2594G= (p.Gly865=) c.2480G= (p.Gly827=) c.1199G= (p.Gly400=) c.2549G= (p.Gly850=) c.2464-1503G= (n.2464-1503G=) c.2540G= (p.Gly847=) c.1841G= (p.Gly614=) c.2588G= (p.Gly863=) | |
16 | g.3770856C>G | CA394551548 | CREBBP | c.2594G>C (p.Gly865Ala) c.2480G>C (p.Gly827Ala) c.1199G>C (p.Gly400Ala) c.2549G>C (p.Gly850Ala) c.2464-1503G>C (n.2464-1503G>C) c.2540G>C (p.Gly847Ala) c.1841G>C (p.Gly614Ala) c.2588G>C (p.Gly863Ala) | dbSNP |
16 | g.3770856C>T | CA394551545 | CREBBP | c.2594G>A (p.Gly865Asp) c.2480G>A (p.Gly827Asp) c.1199G>A (p.Gly400Asp) c.2549G>A (p.Gly850Asp) c.2464-1503G>A (n.2464-1503G>A) c.2540G>A (p.Gly847Asp) c.1841G>A (p.Gly614Asp) c.2588G>A (p.Gly863Asp) | dbSNP |
16 | g.3770857C>A | CA394551550 | CREBBP | c.2593G>T (p.Gly865Cys) c.2479G>T (p.Gly827Cys) c.1198G>T (p.Gly400Cys) c.2548G>T (p.Gly850Cys) c.2464-1504G>T (n.2464-1504G>T) c.2539G>T (p.Gly847Cys) c.1840G>T (p.Gly614Cys) c.2587G>T (p.Gly863Cys) | |
16 | g.3770857C= | CA2202950925 | CREBBP | c.2593G= (p.Gly865=) c.2479G= (p.Gly827=) c.1198G= (p.Gly400=) c.2548G= (p.Gly850=) c.2464-1504G= (n.2464-1504G=) c.2539G= (p.Gly847=) c.1840G= (p.Gly614=) c.2587G= (p.Gly863=) | |
16 | g.3770857C>G | CA394551552 | CREBBP | c.2593G>C (p.Gly865Arg) c.2479G>C (p.Gly827Arg) c.1198G>C (p.Gly400Arg) c.2548G>C (p.Gly850Arg) c.2464-1504G>C (n.2464-1504G>C) c.2539G>C (p.Gly847Arg) c.1840G>C (p.Gly614Arg) c.2587G>C (p.Gly863Arg) | dbSNP |
16 | g.3770857C>T | CA394551553 | CREBBP | c.2593G>A (p.Gly865Ser) c.2479G>A (p.Gly827Ser) c.1198G>A (p.Gly400Ser) c.2548G>A (p.Gly850Ser) c.2464-1504G>A (n.2464-1504G>A) c.2539G>A (p.Gly847Ser) c.1840G>A (p.Gly614Ser) c.2587G>A (p.Gly863Ser) | dbSNP |