NM_004380.3(CREBBP):c.1149G>A (p.Pro383=)
|
rs61759495
|
0.00177
|
NM_004380.3(CREBBP):c.5719G>A (p.Ala1907Thr)
|
rs199990883
|
0.00113
|
NM_004380.3(CREBBP):c.5800T>C (p.Ser1934Pro)
|
rs587783504
|
0.00030
|
NM_004380.3(CREBBP):c.3611A>T (p.Tyr1204Phe)
|
rs200346970
|
0.00014
|
NM_004380.3(CREBBP):c.5747T>C (p.Met1916Thr)
|
rs559294915
|
0.00013
|
NM_004380.3(CREBBP):c.1369A>G (p.Ile457Val)
|
rs369459749
|
0.00009
|
NM_004380.3(CREBBP):c.2854G>A (p.Val952Met)
|
rs369930675
|
0.00009
|
NM_004380.3(CREBBP):c.7184T>C (p.Ile2395Thr)
|
rs759047530
|
0.00009
|
NM_004380.3(CREBBP):c.164A>G (p.Asn55Ser)
|
rs587783466
|
0.00008
|
NM_004380.3(CREBBP):c.1514C>T (p.Pro505Leu)
|
rs369550568
|
0.00005
|
NM_004380.3(CREBBP):c.2112A>G (p.Pro704=)
|
rs398124142
|
0.00004
|
NM_004380.3(CREBBP):c.2505G>T (p.Met835Ile)
|
rs759041100
|
0.00004
|
NM_004380.3(CREBBP):c.2598G>T (p.Met866Ile)
|
rs771016864
|
0.00004
|
NM_004380.3(CREBBP):c.5794A>G (p.Thr1932Ala)
|
rs749249146
|
0.00004
|
NM_004380.3(CREBBP):c.5930T>A (p.Ile1977Asn)
|
rs754429038
|
0.00004
|
NM_004380.3(CREBBP):c.6056G>T (p.Gly2019Val)
|
rs771420935
|
0.00004
|
NM_004380.3(CREBBP):c.6678G>A (p.Ala2226=)
|
rs750845399
|
0.00004
|
NM_004380.3(CREBBP):c.2141G>A (p.Arg714His)
|
rs141098117
|
0.00003
|
NM_004380.3(CREBBP):c.271G>A (p.Ala91Thr)
|
rs200673670
|
0.00003
|
NM_004380.3(CREBBP):c.2860G>A (p.Ala954Thr)
|
rs373284909
|
0.00003
|
NM_004380.3(CREBBP):c.3233C>T (p.Ser1078Leu)
|
rs942848385
|
0.00003
|
NM_004380.3(CREBBP):c.4213G>A (p.Val1405Met)
|
rs140133512
|
0.00003
|
NM_004380.3(CREBBP):c.5740G>A (p.Val1914Met)
|
rs760771706
|
0.00003
|
NM_004380.3(CREBBP):c.6596A>T (p.Gln2199Leu)
|
rs765821935
|
0.00003
|
NM_004380.3(CREBBP):c.7125C>T (p.His2375=)
|
rs746116315
|
0.00003
|
NM_004380.3(CREBBP):c.1824C>G (p.Leu608=)
|
rs753242611
|
0.00002
|
NM_004380.3(CREBBP):c.2679G>A (p.Ser893=)
|
rs587783474
|
0.00002
|
NM_004380.3(CREBBP):c.4419C>T (p.Ala1473=)
|
rs370689343
|
0.00002
|
NM_004380.3(CREBBP):c.6658G>A (p.Gly2220Ser)
|
rs141184151
|
0.00002
|
NM_004380.3(CREBBP):c.7040C>T (p.Ala2347Val)
|
rs182347573
|
0.00002
|
NM_004380.3(CREBBP):c.7162G>A (p.Ala2388Thr)
|
rs756011865
|
0.00002
|
NM_004380.3(CREBBP):c.105C>G (p.Asp35Glu)
|
rs372495787
|
0.00001
|
NM_004380.3(CREBBP):c.1520A>G (p.Gln507Arg)
|
rs766320521
|
0.00001
|
NM_004380.3(CREBBP):c.1585A>G (p.Met529Val)
|
rs747187975
|
0.00001
|
NM_004380.3(CREBBP):c.2557C>A (p.Leu853Met)
|
rs542970560
|
0.00001
|
NM_004380.3(CREBBP):c.2695C>G (p.Pro899Ala)
|
rs1186080322
|
0.00001
|
NM_004380.3(CREBBP):c.3061-11T>C
|
rs762277548
|
0.00001
|
NM_004380.3(CREBBP):c.3385G>A (p.Val1129Ile)
|
rs774047746
|
0.00001
|
NM_004380.3(CREBBP):c.3485A>G (p.Asn1162Ser)
|
rs148166625
|
0.00001
|
NM_004380.3(CREBBP):c.3641A>G (p.Tyr1214Cys)
|
rs1272691121
|
0.00001
|
NM_004380.3(CREBBP):c.3893A>G (p.Tyr1298Cys)
|
rs773159964
|
0.00001
|
NM_004380.3(CREBBP):c.4121G>C (p.Gly1374Ala)
|
rs2052174869
|
0.00001
|
NM_004380.3(CREBBP):c.437C>T (p.Ala146Val)
|
rs1295662710
|
0.00001
|
NM_004380.3(CREBBP):c.4709C>T (p.Ala1570Val)
|
rs1186493453
|
0.00001
|
NM_004380.3(CREBBP):c.4890+6C>T
|
rs1567265838
|
0.00001
|
NM_004380.3(CREBBP):c.5764C>G (p.Pro1922Ala)
|
rs1035114591
|
0.00001
|
NM_004380.3(CREBBP):c.5777G>A (p.Arg1926Gln)
|
rs1370704436
|
0.00001
|
NM_004380.3(CREBBP):c.5795C>T (p.Thr1932Met)
|
rs867074201
|
0.00001
|
NM_004380.3(CREBBP):c.5796G>A (p.Thr1932=)
|
rs755609198
|
0.00001
|
NM_004380.3(CREBBP):c.5836C>G (p.Pro1946Ala)
|
rs1321085895
|
0.00001
|
NM_004380.3(CREBBP):c.5843C>T (p.Pro1948Leu)
|
rs557611780
|
0.00001
|
NM_004380.3(CREBBP):c.586A>G (p.Ser196Gly)
|
rs794727274
|
0.00001
|
NM_004380.3(CREBBP):c.6126G>T (p.Met2042Ile)
|
rs1052723403
|
0.00001
|
NM_004380.3(CREBBP):c.6449C>T (p.Pro2150Leu)
|
rs587783512
|
0.00001
|
NM_004380.3(CREBBP):c.6550A>G (p.Ser2184Gly)
|
rs398124149
|
0.00001
|
NM_004380.3(CREBBP):c.6881G>A (p.Arg2294Gln)
|
rs1064793091
|
0.00001
|
NM_004380.3(CREBBP):c.6956A>T (p.His2319Leu)
|
rs587778215
|
0.00001
|
NM_004380.3(CREBBP):c.7222A>G (p.Met2408Val)
|
rs372005280
|
0.00001
|
NC_000016.9:g.(?_3860584)_(3860800_?)del
|
|
|
NM_004380.3(CREBBP):c.1043C>T (p.Pro348Leu)
|
|
|
NM_004380.3(CREBBP):c.1082T>A (p.Leu361Gln)
|
|
|
NM_004380.3(CREBBP):c.1108C>G (p.Arg370Gly)
|
|
|
NM_004380.3(CREBBP):c.1109G>C (p.Arg370Pro)
|
rs1179677806
|
|
NM_004380.3(CREBBP):c.1133G>T (p.Arg378Leu)
|
|
|
NM_004380.3(CREBBP):c.1148C>T (p.Pro383Leu)
|
rs2053545106
|
|
NM_004380.3(CREBBP):c.1157G>A (p.Arg386Gln)
|
|
|
NM_004380.3(CREBBP):c.1168A>T (p.Asn390Tyr)
|
|
|
NM_004380.3(CREBBP):c.1213C>G (p.Gln405Glu)
|
rs2053544204
|
|
NM_004380.3(CREBBP):c.1216+4A>G
|
|
|
NM_004380.3(CREBBP):c.1287T>A (p.Val429=)
|
|
|
NM_004380.3(CREBBP):c.1331-7G>T
|
|
|
NM_004380.3(CREBBP):c.1355G>A (p.Gly452Glu)
|
|
|
NM_004380.3(CREBBP):c.136C>G (p.Pro46Ala)
|
|
|
NM_004380.3(CREBBP):c.1406C>G (p.Ser469Cys)
|
|
|
NM_004380.3(CREBBP):c.1417C>T (p.Pro473Ser)
|
|
|
NM_004380.3(CREBBP):c.1451C>T (p.Ala484Val)
|
|
|
NM_004380.3(CREBBP):c.1454A>G (p.Tyr485Cys)
|
|
|
NM_004380.3(CREBBP):c.1478T>A (p.Met493Lys)
|
|
|
NM_004380.3(CREBBP):c.1504C>T (p.Pro502Ser)
|
|
|
NM_004380.3(CREBBP):c.1525C>T (p.Pro509Ser)
|
|
|
NM_004380.3(CREBBP):c.1534C>A (p.Pro512Thr)
|
|
|
NM_004380.3(CREBBP):c.1561C>G (p.Leu521Val)
|
|
|
NM_004380.3(CREBBP):c.1571T>A (p.Leu524Gln)
|
|
|
NM_004380.3(CREBBP):c.1572G>C (p.Leu524=)
|
|
|
NM_004380.3(CREBBP):c.1577A>G (p.Asn526Ser)
|
|
|
NM_004380.3(CREBBP):c.1582C>G (p.Pro528Ala)
|
|
|
NM_004380.3(CREBBP):c.1594C>A (p.Pro532Thr)
|
|
|
NM_004380.3(CREBBP):c.1636A>G (p.Ile546Val)
|
|
|
NM_004380.3(CREBBP):c.1645T>G (p.Ser549Ala)
|
|
|
NM_004380.3(CREBBP):c.1654C>T (p.Pro552Ser)
|
|
|
NM_004380.3(CREBBP):c.1655C>T (p.Pro552Leu)
|
|
|
NM_004380.3(CREBBP):c.1666G>A (p.Gly556Arg)
|
|
|
NM_004380.3(CREBBP):c.1677-3T>C
|
|
|
NM_004380.3(CREBBP):c.1678C>A (p.Pro560Thr)
|
|
|
NM_004380.3(CREBBP):c.1679C>A (p.Pro560Gln)
|
|
|
NM_004380.3(CREBBP):c.172A>T (p.Asn58Tyr)
|
|
|
NM_004380.3(CREBBP):c.1756A>G (p.Thr586Ala)
|
|
|
NM_004380.3(CREBBP):c.175C>T (p.Leu59Phe)
|
|
|
NM_004380.3(CREBBP):c.1776G>C (p.Trp592Cys)
|
|
|
NM_004380.3(CREBBP):c.1780G>A (p.Glu594Lys)
|
|
|
NM_004380.3(CREBBP):c.1816C>T (p.His606Tyr)
|
|
|
NM_004380.3(CREBBP):c.1823+18A>G
|
|
|
NM_004380.3(CREBBP):c.1823+7A>C
|
|
|
NM_004380.3(CREBBP):c.1853C>G (p.Pro618Arg)
|
|
|
NM_004380.3(CREBBP):c.1893C>T (p.Ala631=)
|
|
|
NM_004380.3(CREBBP):c.1915G>T (p.Asp639Tyr)
|
|
|
NM_004380.3(CREBBP):c.1925A>G (p.Glu642Gly)
|
|
|
NM_004380.3(CREBBP):c.1934A>G (p.Asn645Ser)
|
|
|
NM_004380.3(CREBBP):c.1941+4G>C
|
|
|
NM_004380.3(CREBBP):c.1941+8G>A
|
rs761673254
|
|
NM_004380.3(CREBBP):c.1941G>A (p.Arg647=)
|
|
|
NM_004380.3(CREBBP):c.1942-5T>C
|
rs1482514446
|
|
NM_004380.3(CREBBP):c.1955A>C (p.His652Pro)
|
rs587783468
|
|
NM_004380.3(CREBBP):c.1984C>A (p.Gln662Lys)
|
|
|
NM_004380.3(CREBBP):c.199C>G (p.His67Asp)
|
rs751125621
|
|
NM_004380.3(CREBBP):c.2031C>T (p.Gly677=)
|
|
|
NM_004380.3(CREBBP):c.206A>G (p.Gln69Arg)
|
|
|
NM_004380.3(CREBBP):c.2075C>A (p.Pro692His)
|
|
|
NM_004380.3(CREBBP):c.2077C>G (p.Pro693Ala)
|
|
|
NM_004380.3(CREBBP):c.2098C>T (p.Pro700Ser)
|
|
|
NM_004380.3(CREBBP):c.2113+3A>G
|
|
|
NM_004380.3(CREBBP):c.2119C>T (p.Pro707Ser)
|
|
|
NM_004380.3(CREBBP):c.2138A>G (p.Asn713Ser)
|
|
|
NM_004380.3(CREBBP):c.2141G>T (p.Arg714Leu)
|
rs141098117
|
|
NM_004380.3(CREBBP):c.2148A>G (p.Gln716=)
|
|
|
NM_004380.3(CREBBP):c.2158+6G>T
|
|
|
NM_004380.3(CREBBP):c.2159-15T>C
|
|
|
NM_004380.3(CREBBP):c.2167T>G (p.Ser723Ala)
|
|
|
NM_004380.3(CREBBP):c.2177C>A (p.Pro726His)
|
|
|
NM_004380.3(CREBBP):c.2179A>G (p.Met727Val)
|
|
|
NM_004380.3(CREBBP):c.2181G>A (p.Met727Ile)
|
|
|
NM_004380.3(CREBBP):c.2181G>T (p.Met727Ile)
|
|
|
NM_004380.3(CREBBP):c.2194G>A (p.Val732Ile)
|
|
|
NM_004380.3(CREBBP):c.2225G>A (p.Arg742His)
|
|
|
NM_004380.3(CREBBP):c.2225G>T (p.Arg742Leu)
|
|
|
NM_004380.3(CREBBP):c.2264G>A (p.Ser755Asn)
|
|
|
NM_004380.3(CREBBP):c.2269G>A (p.Gly757Ser)
|
|
|
NM_004380.3(CREBBP):c.2284-16G>A
|
|
|
NM_004380.3(CREBBP):c.2284-5C>T
|
|
|
NM_004380.3(CREBBP):c.2286G>A (p.Met762Ile)
|
|
|
NM_004380.3(CREBBP):c.2303G>A (p.Arg768Gln)
|
rs754386072
|
|
NM_004380.3(CREBBP):c.2306T>A (p.Met769Lys)
|
|
|
NM_004380.3(CREBBP):c.2307G>A (p.Met769Ile)
|
|
|
NM_004380.3(CREBBP):c.2314C>A (p.Pro772Thr)
|
rs1555482779
|
|
NM_004380.3(CREBBP):c.2318C>T (p.Pro773Leu)
|
|
|
NM_004380.3(CREBBP):c.2323A>G (p.Met775Val)
|
rs990281677
|
|
NM_004380.3(CREBBP):c.2339C>A (p.Thr780Asn)
|
|
|
NM_004380.3(CREBBP):c.2347A>G (p.Met783Val)
|
|
|
NM_004380.3(CREBBP):c.2347A>T (p.Met783Leu)
|
|
|
NM_004380.3(CREBBP):c.2348T>G (p.Met783Arg)
|
|
|
NM_004380.3(CREBBP):c.2349G>C (p.Met783Ile)
|
|
|
NM_004380.3(CREBBP):c.2355_2366del (p.Ala787_Gln790del)
|
rs755265819
|
|
NM_004380.3(CREBBP):c.235G>A (p.Gly79Ser)
|
|
|
NM_004380.3(CREBBP):c.2376G>T (p.Gln792His)
|
|
|
NM_004380.3(CREBBP):c.239C>G (p.Ser80Cys)
|
rs1318683084
|
|
NM_004380.3(CREBBP):c.2417T>A (p.Met806Lys)
|
rs1596895058
|
|
NM_004380.3(CREBBP):c.2417T>C (p.Met806Thr)
|
rs1596895058
|
|
NM_004380.3(CREBBP):c.2417T>G (p.Met806Arg)
|
rs1596895058
|
|
NM_004380.3(CREBBP):c.2420G>C (p.Ser807Thr)
|
rs750178517
|
|
NM_004380.3(CREBBP):c.2426G>A (p.Gly809Asp)
|
|
|
NM_004380.3(CREBBP):c.242G>T (p.Ser81Ile)
|
|
|
NM_004380.3(CREBBP):c.2463+4C>T
|
|
|
NM_004380.3(CREBBP):c.248A>C (p.Asn83Thr)
|
|
|
NM_004380.3(CREBBP):c.2504T>C (p.Met835Thr)
|
|
|
NM_004380.3(CREBBP):c.2505G>A (p.Met835Ile)
|
rs759041100
|
|
NM_004380.3(CREBBP):c.2512C>A (p.Pro838Thr)
|
|
|
NM_004380.3(CREBBP):c.2528T>C (p.Leu843Pro)
|
|
|
NM_004380.3(CREBBP):c.2530C>T (p.Pro844Ser)
|
rs2052990480
|
|
NM_004380.3(CREBBP):c.2537C>T (p.Pro846Leu)
|
|
|
NM_004380.3(CREBBP):c.2539C>G (p.Pro847Ala)
|
|
|
NM_004380.3(CREBBP):c.2554C>G (p.Pro852Ala)
|
|
|
NM_004380.3(CREBBP):c.2561A>G (p.His854Arg)
|
|
|
NM_004380.3(CREBBP):c.2566A>G (p.Thr856Ala)
|
|
|
NM_004380.3(CREBBP):c.258A>G (p.Ile86Met)
|
rs2054819160
|
|
NM_004380.3(CREBBP):c.2594G>T (p.Gly865Val)
|
|
|
NM_004380.3(CREBBP):c.2601A>T (p.Pro867=)
|
|
|
NM_004380.3(CREBBP):c.2606T>C (p.Leu869Pro)
|
rs587783472
|
|
NM_004380.3(CREBBP):c.2638C>T (p.Pro880Ser)
|
|
|
NM_004380.3(CREBBP):c.2639C>T (p.Pro880Leu)
|
|
|
NM_004380.3(CREBBP):c.26C>T (p.Pro9Leu)
|
|
|
NM_004380.3(CREBBP):c.2701C>T (p.Pro901Ser)
|
|
|
NM_004380.3(CREBBP):c.2712C>G (p.Gly904=)
|
|
|
NM_004380.3(CREBBP):c.2716G>C (p.Val906Leu)
|
|
|
NM_004380.3(CREBBP):c.2726C>G (p.Ala909Gly)
|
|
|
NM_004380.3(CREBBP):c.2744C>T (p.Thr915Ile)
|
|
|
NM_004380.3(CREBBP):c.2750C>T (p.Thr917Ile)
|
|
|
NM_004380.3(CREBBP):c.2765C>A (p.Ala922Asp)
|
|
|
NM_004380.3(CREBBP):c.2779A>C (p.Thr927Pro)
|
|
|
NM_004380.3(CREBBP):c.2788C>T (p.Pro930Ser)
|
|
|
NM_004380.3(CREBBP):c.2806_2811del (p.Pro936_Pro937del)
|
rs2141199443
|
|
NM_004380.3(CREBBP):c.2810C>G (p.Pro937Arg)
|
|
|
NM_004380.3(CREBBP):c.2810C>T (p.Pro937Leu)
|
|
|
NM_004380.3(CREBBP):c.2824C>T (p.Pro942Ser)
|
|
|
NM_004380.3(CREBBP):c.2830T>C (p.Ser944Pro)
|
|
|
NM_004380.3(CREBBP):c.283G>A (p.Val95Met)
|
rs756802946
|
|
NM_004380.3(CREBBP):c.2852C>T (p.Pro951Leu)
|
|
|
NM_004380.3(CREBBP):c.2879C>T (p.Pro960Leu)
|
|
|
NM_004380.3(CREBBP):c.288G>A (p.Gln96=)
|
|
|
NM_004380.3(CREBBP):c.2891C>T (p.Ala964Val)
|
|
|
NM_004380.3(CREBBP):c.2903T>C (p.Ile968Thr)
|
rs147795744
|
|
NM_004380.3(CREBBP):c.2917C>A (p.Pro973Thr)
|
|
|
NM_004380.3(CREBBP):c.2924C>G (p.Pro975Arg)
|
|
|
NM_004380.3(CREBBP):c.2924C>T (p.Pro975Leu)
|
|
|
NM_004380.3(CREBBP):c.292G>A (p.Gly98Ser)
|
|
|
NM_004380.3(CREBBP):c.2960A>C (p.Gln987Pro)
|
|
|
NM_004380.3(CREBBP):c.2986G>C (p.Glu996Gln)
|
|
|
NM_004380.3(CREBBP):c.2992A>G (p.Lys998Glu)
|
|
|
NM_004380.3(CREBBP):c.2993A>G (p.Lys998Arg)
|
|
|
NM_004380.3(CREBBP):c.29C>G (p.Pro10Arg)
|
|
|
NM_004380.3(CREBBP):c.3044_3046del (p.Gly1015del)
|
|
|
NM_004380.3(CREBBP):c.3056C>G (p.Ser1019Cys)
|
|
|
NM_004380.3(CREBBP):c.3060+10G>T
|
|
|
NM_004380.3(CREBBP):c.3064A>T (p.Met1022Leu)
|
|
|
NM_004380.3(CREBBP):c.3064_3066del
|
|
|
NM_004380.3(CREBBP):c.3133C>G (p.Pro1045Ala)
|
|
|
NM_004380.3(CREBBP):c.3134C>T (p.Pro1045Leu)
|
|
|
NM_004380.3(CREBBP):c.3148G>C (p.Glu1050Gln)
|
|
|
NM_004380.3(CREBBP):c.3151A>G (p.Lys1051Glu)
|
|
|
NM_004380.3(CREBBP):c.3161A>G (p.Glu1054Gly)
|
|
|
NM_004380.3(CREBBP):c.3163G>T (p.Val1055Leu)
|
|
|
NM_004380.3(CREBBP):c.3175G>C (p.Val1059Leu)
|
|
|
NM_004380.3(CREBBP):c.3178_3183del (p.Lys1060_Glu1061del)
|
|
|
NM_004380.3(CREBBP):c.3185A>C (p.Glu1062Ala)
|
|
|
NM_004380.3(CREBBP):c.318G>C (p.Gln106His)
|
|
|
NM_004380.3(CREBBP):c.318G>T (p.Gln106His)
|
|
|
NM_004380.3(CREBBP):c.3190G>A (p.Glu1064Lys)
|
rs886041006
|
|
NM_004380.3(CREBBP):c.3208A>C (p.Thr1070Pro)
|
|
|
NM_004380.3(CREBBP):c.320C>G (p.Pro107Arg)
|
rs766844540
|
|
NM_004380.3(CREBBP):c.3212C>T (p.Ala1071Val)
|
|
|
NM_004380.3(CREBBP):c.3214T>G (p.Ser1072Ala)
|
|
|
NM_004380.3(CREBBP):c.3227C>T (p.Ser1076Phe)
|
rs1476678901
|
|
NM_004380.3(CREBBP):c.3229_3231del (p.Pro1077del)
|
|
|
NM_004380.3(CREBBP):c.3236A>G (p.Gln1079Arg)
|
|
|
NM_004380.3(CREBBP):c.3238C>G (p.Pro1080Ala)
|
|
|
NM_004380.3(CREBBP):c.323A>G (p.Asn108Ser)
|
|
|
NM_004380.3(CREBBP):c.3242G>A (p.Arg1081His)
|
|
|
NM_004380.3(CREBBP):c.3249A>T (p.Lys1083Asn)
|
rs2141181124
|
|
NM_004380.3(CREBBP):c.3250+4G>A
|
|
|
NM_004380.3(CREBBP):c.3250A>C (p.Ile1084Leu)
|
|
|
NM_004380.3(CREBBP):c.3250A>T (p.Ile1084Phe)
|
|
|
NM_004380.3(CREBBP):c.326G>A (p.Ser109Asn)
|
|
|
NM_004380.3(CREBBP):c.3287C>T (p.Pro1096Leu)
|
|
|
NM_004380.3(CREBBP):c.32A>G (p.Asn11Ser)
|
|
|
NM_004380.3(CREBBP):c.3339G>A (p.Gln1113=)
|
|
|
NM_004380.3(CREBBP):c.336G>C (p.Met112Ile)
|
|
|
NM_004380.3(CREBBP):c.3370-3A>G
|
|
|
NM_004380.3(CREBBP):c.3410C>G (p.Thr1137Ser)
|
|
|
NM_004380.3(CREBBP):c.3442C>G (p.Gln1148Glu)
|
rs2052626228
|
|
NM_004380.3(CREBBP):c.3465C>A (p.Asp1155Glu)
|
|
|
NM_004380.3(CREBBP):c.3473G>C (p.Trp1158Ser)
|
|
|
NM_004380.3(CREBBP):c.3500A>G (p.Tyr1167Cys)
|
rs587783481
|
|
NM_004380.3(CREBBP):c.3506G>A (p.Arg1169His)
|
|
|
NM_004380.3(CREBBP):c.3571C>A (p.Pro1191Thr)
|
rs2151383193
|
|
NM_004380.3(CREBBP):c.3604C>T (p.Arg1202Cys)
|
|
|
NM_004380.3(CREBBP):c.3609+5A>G
|
|
|
NM_004380.3(CREBBP):c.3629C>G (p.Thr1210Ser)
|
|
|
NM_004380.3(CREBBP):c.363C>A (p.Ser121Arg)
|
|
|
NM_004380.3(CREBBP):c.3647A>C (p.Lys1216Thr)
|
|
|
NM_004380.3(CREBBP):c.3667C>T (p.Arg1223Cys)
|
|
|
NM_004380.3(CREBBP):c.3673G>A (p.Ala1225Thr)
|
rs2052609627
|
|
NM_004380.3(CREBBP):c.3698+5G>T
|
rs1596852349
|
|
NM_004380.3(CREBBP):c.3698+6C>T
|
|
|
NM_004380.3(CREBBP):c.3699-11C>A
|
|
|
NM_004380.3(CREBBP):c.3706T>A (p.Phe1236Ile)
|
|
|
NM_004380.3(CREBBP):c.3706T>C (p.Phe1236Leu)
|
|
|
NM_004380.3(CREBBP):c.3719G>A (p.Cys1240Tyr)
|
rs1596839714
|
|
NM_004380.3(CREBBP):c.3729G>C (p.Glu1243Asp)
|
|
|
NM_004380.3(CREBBP):c.3760G>A (p.Asp1254Asn)
|
|
|
NM_004380.3(CREBBP):c.3771G>T (p.Gln1257His)
|
|
|
NM_004380.3(CREBBP):c.3777G>C (p.Gln1259His)
|
|
|
NM_004380.3(CREBBP):c.3779C>A (p.Thr1260Lys)
|
|
|
NM_004380.3(CREBBP):c.3780-2del
|
|
|
NM_004380.3(CREBBP):c.3782C>A (p.Thr1261Lys)
|
|
|
NM_004380.3(CREBBP):c.381TTC[1] (p.Ser129del)
|
|
|
NM_004380.3(CREBBP):c.3836C>G (p.Pro1279Arg)
|
rs749189606
|
|
NM_004380.3(CREBBP):c.3839T>A (p.Phe1280Tyr)
|
|
|
NM_004380.3(CREBBP):c.3839T>G (p.Phe1280Cys)
|
rs2151355973
|
|
NM_004380.3(CREBBP):c.3841G>T (p.Val1281Phe)
|
|
|
NM_004380.3(CREBBP):c.3844G>A (p.Asp1282Asn)
|
|
|
NM_004380.3(CREBBP):c.3857G>A (p.Cys1286Tyr)
|
|
|
NM_004380.3(CREBBP):c.3860G>A (p.Gly1287Asp)
|
|
|
NM_004380.3(CREBBP):c.3862C>T (p.Arg1288Trp)
|
|
|
NM_004380.3(CREBBP):c.3892T>C (p.Tyr1298His)
|
rs2052315739
|
|
NM_004380.3(CREBBP):c.3907C>T (p.Pro1303Ser)
|
rs2151355349
|
|
NM_004380.3(CREBBP):c.3914+17_3914+32del
|
|
|
NM_004380.3(CREBBP):c.3920T>C (p.Val1307Ala)
|
rs2151354200
|
|
NM_004380.3(CREBBP):c.3934T>G (p.Leu1312Val)
|
|
|
NM_004380.3(CREBBP):c.3973A>C (p.Ser1325Arg)
|
|
|
NM_004380.3(CREBBP):c.3974G>T (p.Ser1325Ile)
|
rs760292945
|
|
NM_004380.3(CREBBP):c.3989A>G (p.Gln1330Arg)
|
rs587783487
|
|
NM_004380.3(CREBBP):c.4013T>G (p.Leu1338Trp)
|
rs2151341032
|
|
NM_004380.3(CREBBP):c.4039C>T (p.Arg1347Trp)
|
|
|
NM_004380.3(CREBBP):c.4043G>A (p.Arg1348His)
|
|
|
NM_004380.3(CREBBP):c.4090A>G (p.Ser1364Gly)
|
|
|
NM_004380.3(CREBBP):c.4103C>T (p.Thr1368Met)
|
|
|
NM_004380.3(CREBBP):c.4111G>C (p.Val1371Leu)
|
|
|
NM_004380.3(CREBBP):c.413C>G (p.Ala138Gly)
|
|
|
NM_004380.3(CREBBP):c.4141G>A (p.Asp1381Asn)
|
rs2052155279
|
|
NM_004380.3(CREBBP):c.4210G>A (p.Gly1404Ser)
|
|
|
NM_004380.3(CREBBP):c.422C>G (p.Ser141Cys)
|
|
|
NM_004380.3(CREBBP):c.4252G>A (p.Gly1418Ser)
|
|
|
NM_004380.3(CREBBP):c.4279A>G (p.Arg1427Gly)
|
rs794727401
|
|
NM_004380.3(CREBBP):c.430A>T (p.Thr144Ser)
|
|
|
NM_004380.3(CREBBP):c.431C>T (p.Thr144Ile)
|
|
|
NM_004380.3(CREBBP):c.4321C>T (p.Arg1441Trp)
|
|
|
NM_004380.3(CREBBP):c.4328G>A (p.Arg1443His)
|
|
|
NM_004380.3(CREBBP):c.4364T>C (p.Ile1455Thr)
|
|
|
NM_004380.3(CREBBP):c.4364T>G (p.Ile1455Ser)
|
|
|
NM_004380.3(CREBBP):c.4394+3G>A
|
|
|
NM_004380.3(CREBBP):c.4394+3_4394+7del
|
rs1596810185
|
|
NM_004380.3(CREBBP):c.4394+5G>C
|
|
|
NM_004380.3(CREBBP):c.4397A>T (p.Tyr1466Phe)
|
|
|
NM_004380.3(CREBBP):c.4409A>C (p.His1470Pro)
|
|
|
NM_004380.3(CREBBP):c.4421_4422delinsTC (p.Cys1474Phe)
|
rs1555473126
|
|
NM_004380.3(CREBBP):c.4438GAT[1] (p.Asp1481del)
|
|
|
NM_004380.3(CREBBP):c.4465C>A (p.Pro1489Thr)
|
|
|
NM_004380.3(CREBBP):c.4465C>G (p.Pro1489Ala)
|
rs1303444757
|
|
NM_004380.3(CREBBP):c.4483A>G (p.Lys1495Glu)
|
|
|
NM_004380.3(CREBBP):c.4490A>C (p.Lys1497Thr)
|
|
|
NM_004380.3(CREBBP):c.449C>A (p.Ala150Glu)
|
|
|
NM_004380.3(CREBBP):c.4518G>C (p.Met1506Ile)
|
|
|
NM_004380.3(CREBBP):c.4540C>T (p.Arg1514Trp)
|
|
|
NM_004380.3(CREBBP):c.4549C>T (p.His1517Tyr)
|
|
|
NM_004380.3(CREBBP):c.4559A>T (p.Lys1520Met)
|
rs1596805575
|
|
NM_004380.3(CREBBP):c.4561-3C>A
|
|
|
NM_004380.3(CREBBP):c.4571A>G (p.Lys1524Arg)
|
|
|
NM_004380.3(CREBBP):c.4598G>A (p.Ser1533Asn)
|
|
|
NM_004380.3(CREBBP):c.4612C>T (p.Pro1538Ser)
|
|
|
NM_004380.3(CREBBP):c.4624G>T (p.Gly1542Cys)
|
|
|
NM_004380.3(CREBBP):c.463G>A (p.Ala155Thr)
|
|
|
NM_004380.3(CREBBP):c.4640A>G (p.Asn1547Ser)
|
|
|
NM_004380.3(CREBBP):c.4649A>C (p.Glu1550Ala)
|
|
|
NM_004380.3(CREBBP):c.4666C>G (p.Leu1556Val)
|
|
|
NM_004380.3(CREBBP):c.4672C>G (p.Gln1558Glu)
|
|
|
NM_004380.3(CREBBP):c.4674AGA[2] (p.Glu1562del)
|
|
|
NM_004380.3(CREBBP):c.4721C>G (p.Thr1574Ser)
|
|
|
NM_004380.3(CREBBP):c.4726G>A (p.Glu1576Lys)
|
|
|
NM_004380.3(CREBBP):c.4728+4C>G
|
|
|
NM_004380.3(CREBBP):c.4744A>G (p.Ser1582Gly)
|
|
|
NM_004380.3(CREBBP):c.4749G>T (p.Lys1583Asn)
|
|
|
NM_004380.3(CREBBP):c.475G>A (p.Val159Met)
|
|
|
NM_004380.3(CREBBP):c.4764G>C (p.Lys1588Asn)
|
|
|
NM_004380.3(CREBBP):c.4767C>G (p.Asn1589Lys)
|
|
|
NM_004380.3(CREBBP):c.4795A>G (p.Ser1599Gly)
|
|
|
NM_004380.3(CREBBP):c.4804C>A (p.Arg1602Ser)
|
rs2151319330
|
|
NM_004380.3(CREBBP):c.4807G>A (p.Ala1603Thr)
|
|
|
NM_004380.3(CREBBP):c.4837G>T (p.Val1613Leu)
|
|
|
NM_004380.3(CREBBP):c.4846G>A (p.Asp1616Asn)
|
|
|
NM_004380.3(CREBBP):c.4859A>G (p.Lys1620Arg)
|
|
|
NM_004380.3(CREBBP):c.4888G>A (p.Glu1630Lys)
|
|
|
NM_004380.3(CREBBP):c.4894T>C (p.Phe1632Leu)
|
rs587783501
|
|
NM_004380.3(CREBBP):c.4894T>G (p.Phe1632Val)
|
|
|
NM_004380.3(CREBBP):c.490A>G (p.Ser164Gly)
|
|
|
NM_004380.3(CREBBP):c.4910T>C (p.Leu1637Pro)
|
|
|
NM_004380.3(CREBBP):c.4942C>T (p.Pro1648Ser)
|
|
|
NM_004380.3(CREBBP):c.4943C>A (p.Pro1648His)
|
|
|
NM_004380.3(CREBBP):c.4981A>C (p.Met1661Leu)
|
|
|
NM_004380.3(CREBBP):c.4981A>G (p.Met1661Val)
|
|
|
NM_004380.3(CREBBP):c.4996G>A (p.Ala1666Thr)
|
|
|
NM_004380.3(CREBBP):c.4997C>G (p.Ala1666Gly)
|
|
|
NM_004380.3(CREBBP):c.500C>G (p.Ala167Gly)
|
|
|
NM_004380.3(CREBBP):c.5011G>A (p.Ala1671Thr)
|
rs2151316910
|
|
NM_004380.3(CREBBP):c.5017G>T (p.Asp1673Tyr)
|
|
|
NM_004380.3(CREBBP):c.5025C>A (p.His1675Gln)
|
|
|
NM_004380.3(CREBBP):c.5036CCT[1] (p.Ser1680del)
|
rs587783502
|
|
NM_004380.3(CREBBP):c.503C>T (p.Thr168Met)
|
|
|
NM_004380.3(CREBBP):c.5042T>C (p.Leu1681Ser)
|
|
|
NM_004380.3(CREBBP):c.5048G>A (p.Arg1683His)
|
|
|
NM_004380.3(CREBBP):c.5051C>A (p.Ser1684Tyr)
|
rs1555471841
|
|
NM_004380.3(CREBBP):c.5105G>T (p.Arg1702Leu)
|
rs1275659601
|
|
NM_004380.3(CREBBP):c.510G>C (p.Gln170His)
|
|
|
NM_004380.3(CREBBP):c.5140G>A (p.Val1714Met)
|
|
|
NM_004380.3(CREBBP):c.515G>T (p.Gly172Val)
|
|
|
NM_004380.3(CREBBP):c.5172+10_5172+11delinsCT
|
|
|
NM_004380.3(CREBBP):c.5172+4G>A
|
|
|
NM_004380.3(CREBBP):c.518C>T (p.Pro173Leu)
|
|
|
NM_004380.3(CREBBP):c.5201A>C (p.Asn1734Thr)
|
|
|
NM_004380.3(CREBBP):c.5210G>A (p.Ser1737Asn)
|
|
|
NM_004380.3(CREBBP):c.5234G>C (p.Trp1745Ser)
|
|
|
NM_004380.3(CREBBP):c.5238G>T (p.Gly1746=)
|
|
|
NM_004380.3(CREBBP):c.5242G>T (p.Gly1748Cys)
|
|
|
NM_004380.3(CREBBP):c.5264G>A (p.Ser1755Asn)
|
|
|
NM_004380.3(CREBBP):c.5301_5302insAAGAACCCCCAA (p.Ser1767_Arg1768insLysAsnProGln)
|
rs2151311865
|
|
NM_004380.3(CREBBP):c.5352G>T (p.Gln1784His)
|
|
|
NM_004380.3(CREBBP):c.5377C>T (p.Pro1793Ser)
|
|
|
NM_004380.3(CREBBP):c.5398C>T (p.Arg1800Trp)
|
|
|
NM_004380.3(CREBBP):c.5404G>A (p.Val1802Met)
|
|
|
NM_004380.3(CREBBP):c.5440G>A (p.Gly1814Arg)
|
|
|
NM_004380.3(CREBBP):c.5450C>T (p.Pro1817Leu)
|
|
|
NM_004380.3(CREBBP):c.5462A>G (p.Gln1821Arg)
|
rs1448187215
|
|
NM_004380.3(CREBBP):c.5467A>T (p.Ile1823Phe)
|
|
|
NM_004380.3(CREBBP):c.5489C>G (p.Ala1830Gly)
|
|
|
NM_004380.3(CREBBP):c.5540A>G (p.Lys1847Arg)
|
|
|
NM_004380.3(CREBBP):c.5544C>G (p.His1848Gln)
|
|
|
NM_004380.3(CREBBP):c.5549T>C (p.Leu1850Pro)
|
|
|
NM_004380.3(CREBBP):c.5557C>G (p.Gln1853Glu)
|
|
|
NM_004380.3(CREBBP):c.5570_5590dup (p.Gln1863_Leu1864insHisArgLeuGlnGlnAlaGln)
|
|
|
NM_004380.3(CREBBP):c.5573G>C (p.Arg1858Pro)
|
rs770325046
|
|
NM_004380.3(CREBBP):c.559G>C (p.Gly187Arg)
|
|
|
NM_004380.3(CREBBP):c.5611A>C (p.Thr1871Pro)
|
rs2051850835
|
|
NM_004380.3(CREBBP):c.5627A>G (p.Asn1876Ser)
|
|
|
NM_004380.3(CREBBP):c.5629G>A (p.Val1877Met)
|
|
|
NM_004380.3(CREBBP):c.5653C>T (p.Pro1885Ser)
|
|
|
NM_004380.3(CREBBP):c.5676C>T (p.Thr1892=)
|
|
|
NM_004380.3(CREBBP):c.5685G>A (p.Gln1895=)
|
|
|
NM_004380.3(CREBBP):c.5695A>C (p.Thr1899Pro)
|
|
|
NM_004380.3(CREBBP):c.5695A>G (p.Thr1899Ala)
|
|
|
NM_004380.3(CREBBP):c.5707C>T (p.Pro1903Ser)
|
|
|
NM_004380.3(CREBBP):c.5708C>T (p.Pro1903Leu)
|
|
|
NM_004380.3(CREBBP):c.5717C>T (p.Pro1906Leu)
|
|
|
NM_004380.3(CREBBP):c.572G>C (p.Ser191Thr)
|
|
|
NM_004380.3(CREBBP):c.5734T>G (p.Ser1912Ala)
|
|
|
NM_004380.3(CREBBP):c.5791A>C (p.Thr1931Pro)
|
|
|
NM_004380.3(CREBBP):c.5792C>T (p.Thr1931Ile)
|
|
|
NM_004380.3(CREBBP):c.5796_5804del (p.Val1933_Thr1935del)
|
|
|
NM_004380.3(CREBBP):c.5797G>A (p.Val1933Met)
|
|
|
NM_004380.3(CREBBP):c.5804C>T (p.Thr1935Ile)
|
rs2151308115
|
|
NM_004380.3(CREBBP):c.5820C>G (p.Ser1940Arg)
|
|
|
NM_004380.3(CREBBP):c.5827C>G (p.Pro1943Ala)
|
|
|
NM_004380.3(CREBBP):c.5828C>A (p.Pro1943Gln)
|
|
|
NM_004380.3(CREBBP):c.5836C>T (p.Pro1946Ser)
|
|
|
NM_004380.3(CREBBP):c.5837C>A (p.Pro1946Gln)
|
rs765600316
|
|
NM_004380.3(CREBBP):c.5839C>A (p.Pro1947Thr)
|
|
|
NM_004380.3(CREBBP):c.5842C>A (p.Pro1948Thr)
|
rs1231016252
|
|
NM_004380.3(CREBBP):c.5844_5846dup (p.Ala1949dup)
|
rs2151307787
|
|
NM_004380.3(CREBBP):c.5849A>C (p.Gln1950Pro)
|
|
|
NM_004380.3(CREBBP):c.5873C>T (p.Ala1958Val)
|
rs986406817
|
|
NM_004380.3(CREBBP):c.5891G>T (p.Arg1964Leu)
|
|
|
NM_004380.3(CREBBP):c.5900A>G (p.Gln1967Arg)
|
|
|
NM_004380.3(CREBBP):c.5908C>G (p.Gln1970Glu)
|
|
|
NM_004380.3(CREBBP):c.5910G>T (p.Gln1970His)
|
|
|
NM_004380.3(CREBBP):c.5921G>A (p.Arg1974Gln)
|
|
|
NM_004380.3(CREBBP):c.5925G>A (p.Val1975=)
|
|
|
NM_004380.3(CREBBP):c.5933ACA[1] (p.Asn1979del)
|
|
|
NM_004380.3(CREBBP):c.5953C>T (p.Arg1985Cys)
|
|
|
NM_004380.3(CREBBP):c.5962A>T (p.Met1988Leu)
|
|
|
NM_004380.3(CREBBP):c.5969_5977del (p.Thr1990_Gly1992del)
|
rs777318563
|
|
NM_004380.3(CREBBP):c.5992G>T (p.Val1998Leu)
|
|
|
NM_004380.3(CREBBP):c.5997C>T (p.Ser1999=)
|
|
|
NM_004380.3(CREBBP):c.599A>G (p.Gln200Arg)
|
|
|
NM_004380.3(CREBBP):c.6007C>T (p.Pro2003Ser)
|
rs1282498604
|
|
NM_004380.3(CREBBP):c.6028G>A (p.Gly2010Arg)
|
rs751739281
|
|
NM_004380.3(CREBBP):c.6029G>T (p.Gly2010Val)
|
|
|
NM_004380.3(CREBBP):c.6045C>G (p.Ser2015Arg)
|
|
|
NM_004380.3(CREBBP):c.6050C>T (p.Pro2017Leu)
|
|
|
NM_004380.3(CREBBP):c.6055G>A (p.Gly2019Arg)
|
|
|
NM_004380.3(CREBBP):c.6071C>G (p.Ala2024Gly)
|
|
|
NM_004380.3(CREBBP):c.6097C>G (p.Pro2033Ala)
|
|
|
NM_004380.3(CREBBP):c.6110G>A (p.Arg2037Lys)
|
|
|
NM_004380.3(CREBBP):c.6113C>T (p.Pro2038Leu)
|
|
|
NM_004380.3(CREBBP):c.6118A>C (p.Ile2040Leu)
|
|
|
NM_004380.3(CREBBP):c.6119T>C (p.Ile2040Thr)
|
|
|
NM_004380.3(CREBBP):c.6122C>G (p.Ser2041Cys)
|
|
|
NM_004380.3(CREBBP):c.6124A>T (p.Met2042Leu)
|
|
|
NM_004380.3(CREBBP):c.6137C>T (p.Ala2046Val)
|
|
|
NM_004380.3(CREBBP):c.613C>A (p.Gln205Lys)
|
|
|
NM_004380.3(CREBBP):c.6145G>T (p.Ala2049Ser)
|
|
|
NM_004380.3(CREBBP):c.6164G>C (p.Ser2055Thr)
|
|
|
NM_004380.3(CREBBP):c.6185T>G (p.Ile2062Ser)
|
|
|
NM_004380.3(CREBBP):c.6195C>A (p.Ser2065Arg)
|
rs374150949
|
|
NM_004380.3(CREBBP):c.6227C>T (p.Ser2076Leu)
|
|
|
NM_004380.3(CREBBP):c.6232A>G (p.Ser2078Gly)
|
|
|
NM_004380.3(CREBBP):c.625A>G (p.Met209Val)
|
|
|
NM_004380.3(CREBBP):c.6300C>G (p.Phe2100Leu)
|
|
|
NM_004380.3(CREBBP):c.6301A>G (p.Ile2101Val)
|
|
|
NM_004380.3(CREBBP):c.6339_6356dup (p.Gly2120_Leu2121insMetGlnProGlnProGly)
|
|
|
NM_004380.3(CREBBP):c.6343_6360dup (p.Gly2120_Leu2121insMetGlnProGlnProGly)
|
|
|
NM_004380.3(CREBBP):c.6348_6383dup (p.Gly2132_Met2133insLeuGlnSerGlnProGlyMetGlnProGlnProGly)
|
|
|
NM_004380.3(CREBBP):c.6361_6396del (p.Leu2121_Gly2132del)
|
|
|
NM_004380.3(CREBBP):c.6376G>A (p.Gly2126Ser)
|
|
|
NM_004380.3(CREBBP):c.6376G>T (p.Gly2126Cys)
|
|
|
NM_004380.3(CREBBP):c.6384_6401del (p.Gln2128_Met2133del)
|
rs772003652
|
|
NM_004380.3(CREBBP):c.6384_6401dup (p.Gln2128_Met2133dup)
|
rs772003652
|
|
NM_004380.3(CREBBP):c.6390G>C (p.Gln2130His)
|
|
|
NM_004380.3(CREBBP):c.6398T>C (p.Met2133Thr)
|
|
|
NM_004380.3(CREBBP):c.6402C>G (p.His2134Gln)
|
|
|
NM_004380.3(CREBBP):c.6435G>C (p.Met2145Ile)
|
|
|
NM_004380.3(CREBBP):c.6449C>A (p.Pro2150Gln)
|
|
|
NM_004380.3(CREBBP):c.6451C>T (p.Arg2151Trp)
|
|
|
NM_004380.3(CREBBP):c.6454C>T (p.Pro2152Ser)
|
rs773348705
|
|
NM_004380.3(CREBBP):c.6458G>A (p.Gly2153Asp)
|
|
|
NM_004380.3(CREBBP):c.6479C>T (p.Ala2160Val)
|
|
|
NM_004380.3(CREBBP):c.6517A>G (p.Ile2173Val)
|
|
|
NM_004380.3(CREBBP):c.6519C>G (p.Ile2173Met)
|
|
|
NM_004380.3(CREBBP):c.652A>G (p.Arg218Gly)
|
|
|
NM_004380.3(CREBBP):c.6538C>T (p.Pro2180Ser)
|
|
|
NM_004380.3(CREBBP):c.6539C>G (p.Pro2180Arg)
|
|
|
NM_004380.3(CREBBP):c.6542A>G (p.Asn2181Ser)
|
|
|
NM_004380.3(CREBBP):c.6543C>A (p.Asn2181Lys)
|
|
|
NM_004380.3(CREBBP):c.6547G>T (p.Ala2183Ser)
|
|
|
NM_004380.3(CREBBP):c.6557A>T (p.Asn2186Ile)
|
rs1358192617
|
|
NM_004380.3(CREBBP):c.6559C>T (p.Pro2187Ser)
|
rs2151303211
|
|
NM_004380.3(CREBBP):c.6580C>T (p.Arg2194Trp)
|
|
|
NM_004380.3(CREBBP):c.6594GCA[2] (p.Gln2214_Gln2216del)
|
rs746121736
|
|
NM_004380.3(CREBBP):c.6594GCA[3] (p.Gln2215_Gln2216del)
|
rs746121736
|
|
NM_004380.3(CREBBP):c.6594GCA[6] (p.Gln2216_Gly2217insGln)
|
|
|
NM_004380.3(CREBBP):c.6600GCAGCAGCAACA[3] (p.Gln2216_Gly2217insGlnGlnGlnGln)
|
|
|
NM_004380.3(CREBBP):c.6600_6632del (p.Gln2206_Gln2216del)
|
rs2051809059
|
|
NM_004380.3(CREBBP):c.6603_6620del (p.Gln2211_Gln2216del)
|
rs2151302749
|
|
NM_004380.3(CREBBP):c.6611A>T (p.Gln2204Leu)
|
|
|
NM_004380.3(CREBBP):c.6612GCA[4] (p.Gln2216dup)
|
rs779647460
|
|
NM_004380.3(CREBBP):c.6621ACA[1] (p.Gln2216del)
|
|
|
NM_004380.3(CREBBP):c.6621_6644del (p.Gln2209_Gln2216del)
|
rs778507028
|
|
NM_004380.3(CREBBP):c.6621_6644dup (p.Gln2216_Gly2217insGlnGlnGlnGlnGlnGlnGlnGln)
|
|
|
NM_004380.3(CREBBP):c.6624ACAGCAGCA[3] (p.Gln2216_Gly2217insGlnGlnGln)
|
|
|
NM_004380.3(CREBBP):c.6624GCA[4] (p.Gln2216_Gly2217insGlnGlnGlnGln)
|
|
|
NM_004380.3(CREBBP):c.6624_6635del (p.Gln2213_Gln2216del)
|
rs763108828
|
|
NM_004380.3(CREBBP):c.6625C>G (p.Gln2209Glu)
|
|
|
NM_004380.3(CREBBP):c.6627GCA[3] (p.Gln2216_Gly2217insGln)
|
|
|
NM_004380.3(CREBBP):c.6633_6644dup (p.Gln2216_Gly2217insGlnGlnGlnGln)
|
|
|
NM_004380.3(CREBBP):c.6636GCA[5] (p.Gln2216_Gly2217insGln)
|
|
|
NM_004380.3(CREBBP):c.6646C>A (p.Gln2216Lys)
|
|
|
NM_004380.3(CREBBP):c.6658G>C (p.Gly2220Arg)
|
|
|
NM_004380.3(CREBBP):c.6664G>A (p.Ala2222Thr)
|
|
|
NM_004380.3(CREBBP):c.6668G>T (p.Gly2223Val)
|
|
|
NM_004380.3(CREBBP):c.6673A>C (p.Met2225Leu)
|
|
|
NM_004380.3(CREBBP):c.6673A>G (p.Met2225Val)
|
|
|
NM_004380.3(CREBBP):c.6680G>A (p.Gly2227Glu)
|
|
|
NM_004380.3(CREBBP):c.6684C>G (p.His2228Gln)
|
|
|
NM_004380.3(CREBBP):c.6686G>A (p.Gly2229Asp)
|
|
|
NM_004380.3(CREBBP):c.668G>C (p.Gly223Ala)
|
rs2054806972
|
|
NM_004380.3(CREBBP):c.6703C>G (p.Gln2235Glu)
|
|
|
NM_004380.3(CREBBP):c.6730A>C (p.Met2244Leu)
|
|
|
NM_004380.3(CREBBP):c.6730A>G (p.Met2244Val)
|
|
|
NM_004380.3(CREBBP):c.6734AGC[3] (p.Gln2248del)
|
|
|
NM_004380.3(CREBBP):c.6734AGC[5] (p.Gln2248dup)
|
rs753283086
|
|
NM_004380.3(CREBBP):c.6741_6758dup (p.Gln2252_His2253insGlnGlnArgMetGlnGln)
|
|
|
NM_004380.3(CREBBP):c.6764C>T (p.Pro2255Leu)
|
rs1191357764
|
|
NM_004380.3(CREBBP):c.6785G>A (p.Gly2262Asp)
|
|
|
NM_004380.3(CREBBP):c.6789G>C (p.Gln2263His)
|
|
|
NM_004380.3(CREBBP):c.6811C>G (p.Leu2271Val)
|
|
|
NM_004380.3(CREBBP):c.6819G>C (p.Gln2273His)
|
|
|
NM_004380.3(CREBBP):c.6820A>G (p.Met2274Val)
|
rs1306100144
|
|
NM_004380.3(CREBBP):c.6829C>T (p.Pro2277Ser)
|
|
|
NM_004380.3(CREBBP):c.6839G>A (p.Gly2280Glu)
|
rs781438241
|
|
NM_004380.3(CREBBP):c.6847A>G (p.Ser2283Gly)
|
|
|
NM_004380.3(CREBBP):c.6871C>G (p.Leu2291Val)
|
|
|
NM_004380.3(CREBBP):c.6901A>G (p.Met2301Val)
|
|
|
NM_004380.3(CREBBP):c.6909_6910delinsTA (p.Gln2303_Gln2304delinsHisLys)
|
|
|
NM_004380.3(CREBBP):c.6937C>G (p.Pro2313Ala)
|
|
|
NM_004380.3(CREBBP):c.6959T>C (p.Met2320Thr)
|
|
|
NM_004380.3(CREBBP):c.695A>G (p.Gln232Arg)
|
rs2054805900
|
|
NM_004380.3(CREBBP):c.6980C>G (p.Ala2327Gly)
|
|
|
NM_004380.3(CREBBP):c.6983C>T (p.Ser2328Leu)
|
|
|
NM_004380.3(CREBBP):c.7018A>G (p.Ser2340Gly)
|
|
|
NM_004380.3(CREBBP):c.7023C>G (p.Asn2341Lys)
|
|
|
NM_004380.3(CREBBP):c.7028T>G (p.Val2343Gly)
|
|
|
NM_004380.3(CREBBP):c.7058_7078del (p.Arg2353_Pro2359del)
|
rs766383937
|
|
NM_004380.3(CREBBP):c.7082C>T (p.Ser2361Phe)
|
|
|
NM_004380.3(CREBBP):c.7090T>C (p.Ser2364Pro)
|
|
|
NM_004380.3(CREBBP):c.7106C>T (p.Pro2369Leu)
|
|
|
NM_004380.3(CREBBP):c.7111C>A (p.Pro2371Thr)
|
|
|
NM_004380.3(CREBBP):c.7123C>T (p.His2375Tyr)
|
|
|
NM_004380.3(CREBBP):c.7136A>C (p.Gln2379Pro)
|
|
|
NM_004380.3(CREBBP):c.7139C>G (p.Thr2380Ser)
|
|
|
NM_004380.3(CREBBP):c.7172T>C (p.Met2391Thr)
|
|
|
NM_004380.3(CREBBP):c.7185A>G (p.Ile2395Met)
|
|
|
NM_004380.3(CREBBP):c.718G>T (p.Ala240Ser)
|
|
|
NM_004380.3(CREBBP):c.7195C>T (p.His2399Tyr)
|
|
|
NM_004380.3(CREBBP):c.719C>T (p.Ala240Val)
|
|
|
NM_004380.3(CREBBP):c.7207C>G (p.Pro2403Ala)
|
|
|
NM_004380.3(CREBBP):c.7210G>A (p.Glu2404Lys)
|
rs863223334
|
|
NM_004380.3(CREBBP):c.721G>A (p.Glu241Lys)
|
|
|
NM_004380.3(CREBBP):c.7243C>T (p.Pro2415Ser)
|
|
|
NM_004380.3(CREBBP):c.725C>A (p.Thr242Asn)
|
|
|
NM_004380.3(CREBBP):c.7266C>G (p.Ser2422Arg)
|
|
|
NM_004380.3(CREBBP):c.7290_7301dup (p.Thr2434_Leu2435insThrGlyAspThr)
|
|
|
NM_004380.3(CREBBP):c.7300A>G (p.Thr2434Ala)
|
|
|
NM_004380.3(CREBBP):c.7301C>T (p.Thr2434Met)
|
|
|
NM_004380.3(CREBBP):c.7311G>T (p.Lys2437Asn)
|
rs895608889
|
|
NM_004380.3(CREBBP):c.739T>C (p.Ser247Pro)
|
|
|
NM_004380.3(CREBBP):c.748A>G (p.Met250Val)
|
|
|
NM_004380.3(CREBBP):c.749T>C (p.Met250Thr)
|
|
|
NM_004380.3(CREBBP):c.760G>T (p.Ala254Ser)
|
|
|
NM_004380.3(CREBBP):c.772A>G (p.Thr258Ala)
|
rs1597053070
|
|
NM_004380.3(CREBBP):c.778C>A (p.Gln260Lys)
|
|
|
NM_004380.3(CREBBP):c.796A>G (p.Lys266Glu)
|
|
|
NM_004380.3(CREBBP):c.799A>G (p.Met267Val)
|
|
|
NM_004380.3(CREBBP):c.799A>T (p.Met267Leu)
|
|
|
NM_004380.3(CREBBP):c.805A>G (p.Ile269Val)
|
|
|
NM_004380.3(CREBBP):c.874G>A (p.Gly292Arg)
|
|
|
NM_004380.3(CREBBP):c.875G>A (p.Gly292Glu)
|
|
|
NM_004380.3(CREBBP):c.878T>A (p.Val293Glu)
|
rs1239213391
|
|
NM_004380.3(CREBBP):c.882C>A (p.Asn294Lys)
|
|
|
NM_004380.3(CREBBP):c.887A>C (p.Gln296Pro)
|
|
|
NM_004380.3(CREBBP):c.907A>G (p.Met303Val)
|
rs1567331335
|
|
NM_004380.3(CREBBP):c.908T>C (p.Met303Thr)
|
|
|
NM_004380.3(CREBBP):c.921G>T (p.Leu307Phe)
|
|
|
NM_004380.3(CREBBP):c.925A>G (p.Thr309Ala)
|
|
|
NM_004380.3(CREBBP):c.955G>A (p.Val319Ile)
|
|
|
NM_004380.3(CREBBP):c.959C>G (p.Thr320Ser)
|
|
|
NM_004380.3(CREBBP):c.964G>A (p.Val322Met)
|
|
|
NM_004380.3(CREBBP):c.975+3A>G
|
|
|