NM_003070.5(SMARCA2):c.3672G>A (p.Glu1224=)
|
rs6601
|
0.24705
|
NM_003070.5(SMARCA2):c.4638C>G (p.Asp1546Glu)
|
rs2296212
|
0.17040
|
NM_003070.5(SMARCA2):c.4595-20T>C
|
rs3818384
|
0.15770
|
NM_003070.5(SMARCA2):c.1827A>G (p.Pro609=)
|
rs13288443
|
0.12157
|
NM_003070.5(SMARCA2):c.1347+16_1347+17insT
|
rs150124430
|
0.12134
|
NM_003070.5(SMARCA2):c.177G>A (p.Thr59=)
|
rs10964471
|
0.08917
|
NM_003070.5(SMARCA2):c.174G>A (p.Pro58=)
|
rs10964470
|
0.04780
|
NM_003070.5(SMARCA2):c.683A>C (p.Gln228Pro)
|
rs62534884
|
0.03925
|
NM_003070.5(SMARCA2):c.717G>A (p.Pro239=)
|
rs10964525
|
0.02801
|
NM_003070.5(SMARCA2):c.2992-8G>A
|
rs77406154
|
0.01836
|
NM_003070.5(SMARCA2):c.2770-7C>G
|
rs114448411
|
0.01734
|
NM_003070.5(SMARCA2):c.4590C>T (p.Ser1530=)
|
rs77070978
|
0.01166
|
NM_003070.5(SMARCA2):c.462G>A (p.Gly154=)
|
rs61736900
|
0.00974
|
NM_003070.5(SMARCA2):c.669G>A (p.Gln223=)
|
rs62639301
|
0.00696
|
NM_003070.5(SMARCA2):c.1522-19G>A
|
rs141618610
|
0.00554
|
NM_003070.5(SMARCA2):c.666A>G (p.Gln222=)
|
rs13296987
|
0.00541
|
NM_003070.5(SMARCA2):c.4360-16C>G
|
rs142175015
|
0.00500
|
NM_003070.5(SMARCA2):c.3843C>T (p.Pro1281=)
|
rs61736902
|
0.00490
|
NM_003070.5(SMARCA2):c.3555C>T (p.Leu1185=)
|
rs78868042
|
0.00444
|
NM_003070.5(SMARCA2):c.2733A>G (p.Gln911=)
|
rs146829604
|
0.00409
|
NM_003070.5(SMARCA2):c.2136G>A (p.Val712=)
|
rs147739329
|
0.00159
|
NM_003070.5(SMARCA2):c.4761G>A (p.Thr1587=)
|
rs146702999
|
0.00143
|
NM_003070.5(SMARCA2):c.844G>A (p.Ala282Thr)
|
rs929861388
|
0.00122
|
NM_003070.5(SMARCA2):c.2349-3T>C
|
rs371183012
|
0.00110
|
NM_003070.5(SMARCA2):c.1122C>G (p.Thr374=)
|
rs138404604
|
0.00108
|
NM_003070.5(SMARCA2):c.3438C>T (p.Ser1146=)
|
rs62534896
|
0.00088
|
NM_003070.5(SMARCA2):c.4731T>C (p.Asp1577=)
|
rs143522467
|
0.00088
|
NM_003070.5(SMARCA2):c.1422G>A (p.Gln474=)
|
rs144434753
|
0.00087
|
NM_003070.5(SMARCA2):c.4717G>A (p.Asp1573Asn)
|
rs61736899
|
0.00083
|
NM_003070.5(SMARCA2):c.695A>C (p.Gln232Pro)
|
rs143245740
|
0.00083
|
NM_003070.5(SMARCA2):c.2526+13A>G
|
rs112774333
|
0.00082
|
NM_003070.5(SMARCA2):c.3282A>G (p.Leu1094=)
|
rs140418138
|
0.00073
|
NM_003070.5(SMARCA2):c.4440G>A (p.Thr1480=)
|
rs184913034
|
0.00073
|
NM_003070.5(SMARCA2):c.4699G>C (p.Val1567Leu)
|
rs144110632
|
0.00068
|
NM_003070.5(SMARCA2):c.4737+13G>A
|
rs149380449
|
0.00060
|
NM_003070.5(SMARCA2):c.1962G>A (p.Gln654=)
|
rs151212782
|
0.00058
|
NM_003070.5(SMARCA2):c.231C>T (p.Ile77=)
|
rs148086416
|
0.00058
|
NM_003070.5(SMARCA2):c.1983C>A (p.Leu661=)
|
rs140384223
|
0.00053
|
NM_003070.5(SMARCA2):c.708A>G (p.Gln236=)
|
rs754442970
|
0.00050
|
NM_003070.5(SMARCA2):c.4360-14A>T
|
rs146328709
|
0.00046
|
NM_003070.5(SMARCA2):c.226-20A>G
|
rs149279147
|
0.00044
|
NM_003070.5(SMARCA2):c.1746+10C>T
|
rs140722679
|
0.00043
|
NM_003070.5(SMARCA2):c.1806C>T (p.Thr602=)
|
rs202136878
|
0.00036
|
NM_003070.5(SMARCA2):c.1877+19G>A
|
rs569297862
|
0.00036
|
NM_003070.5(SMARCA2):c.4479C>T (p.Ile1493=)
|
rs111380592
|
0.00035
|
NM_003070.5(SMARCA2):c.246C>T (p.Asp82=)
|
rs181403075
|
0.00029
|
NM_003070.5(SMARCA2):c.3126-17C>T
|
rs200229990
|
0.00029
|
NM_003070.5(SMARCA2):c.4595-7G>C
|
rs199897032
|
0.00029
|
NM_003070.5(SMARCA2):c.4737+18G>A
|
rs191731237
|
0.00026
|
NM_003070.5(SMARCA2):c.97C>T (p.Pro33Ser)
|
rs146990134
|
0.00024
|
NM_003070.5(SMARCA2):c.3685-6C>A
|
rs201731141
|
0.00021
|
NM_003070.5(SMARCA2):c.2348+8A>C
|
rs771019219
|
0.00020
|
NM_003070.5(SMARCA2):c.2929C>T (p.Leu977=)
|
rs139445919
|
0.00020
|
NM_003070.5(SMARCA2):c.1080A>G (p.Glu360=)
|
rs138782877
|
0.00019
|
NM_003070.5(SMARCA2):c.3510G>T (p.Arg1170=)
|
rs148467601
|
0.00019
|
NM_003070.5(SMARCA2):c.4207G>A (p.Val1403Met)
|
rs143797398
|
0.00019
|
NM_003070.5(SMARCA2):c.4516A>T (p.Ile1506Phe)
|
rs147135956
|
0.00018
|
NM_003070.5(SMARCA2):c.1266T>A (p.Thr422=)
|
rs146138142
|
0.00016
|
NM_003070.5(SMARCA2):c.4200-4G>A
|
rs190182277
|
0.00016
|
NM_003070.5(SMARCA2):c.1428C>G (p.Leu476=)
|
rs768798608
|
0.00015
|
NM_003070.5(SMARCA2):c.674A>C (p.Gln225Pro)
|
rs145170448
|
0.00014
|
NM_003070.5(SMARCA2):c.2244C>T (p.Ala748=)
|
rs140551438
|
0.00011
|
NM_003070.5(SMARCA2):c.175A>T (p.Thr59Ser)
|
rs138129490
|
0.00008
|
NM_003070.5(SMARCA2):c.915C>G (p.Pro305=)
|
rs981565985
|
0.00008
|
NM_003070.5(SMARCA2):c.1737G>A (p.Pro579=)
|
rs371544356
|
0.00007
|
NM_003070.5(SMARCA2):c.1854C>T (p.Asp618=)
|
rs140464170
|
0.00007
|
NM_003070.5(SMARCA2):c.3267G>A (p.Arg1089=)
|
rs147154246
|
0.00006
|
NM_003070.5(SMARCA2):c.3963G>A (p.Thr1321=)
|
rs772015906
|
0.00006
|
NM_003070.5(SMARCA2):c.876C>T (p.Pro292=)
|
rs1046917367
|
0.00006
|
NM_003070.5(SMARCA2):c.4509G>A (p.Arg1503=)
|
rs751453496
|
0.00005
|
NM_003070.5(SMARCA2):c.1188G>T (p.Val396=)
|
rs372968761
|
0.00004
|
NM_003070.5(SMARCA2):c.2211C>T (p.Ser737=)
|
rs753721769
|
0.00004
|
NM_003070.5(SMARCA2):c.2673C>T (p.Leu891=)
|
rs201306504
|
0.00004
|
NM_003070.5(SMARCA2):c.4725G>A (p.Glu1575=)
|
rs61761955
|
0.00004
|
NM_003070.5(SMARCA2):c.4737+12C>T
|
rs769322005
|
0.00004
|
NM_003070.5(SMARCA2):c.1890C>T (p.Ala630=)
|
rs144414155
|
0.00003
|
NM_003070.5(SMARCA2):c.2037-4C>A
|
rs772646899
|
0.00003
|
NM_003070.5(SMARCA2):c.324T>A (p.Pro108=)
|
rs150630640
|
0.00003
|
NM_003070.5(SMARCA2):c.4247G>C (p.Gly1416Ala)
|
rs3793510
|
0.00003
|
NM_003070.5(SMARCA2):c.4257A>C (p.Ser1419=)
|
rs547998868
|
0.00003
|
NM_003070.5(SMARCA2):c.1510C>A (p.Arg504=)
|
rs576817778
|
0.00002
|
NM_003070.5(SMARCA2):c.210G>A (p.Met70Ile)
|
rs529054959
|
0.00002
|
NM_003070.5(SMARCA2):c.2348+3A>G
|
rs368599978
|
0.00002
|
NM_003070.5(SMARCA2):c.2349-15T>A
|
rs777370075
|
0.00002
|
NM_003070.5(SMARCA2):c.2931G>A (p.Leu977=)
|
rs758491724
|
0.00002
|
NM_003070.5(SMARCA2):c.3702G>A (p.Pro1234=)
|
rs140458185
|
0.00002
|
NM_003070.5(SMARCA2):c.3939C>T (p.Asp1313=)
|
rs745662991
|
0.00002
|
NM_003070.5(SMARCA2):c.4206C>T (p.Asn1402=)
|
rs373924332
|
0.00002
|
NM_003070.5(SMARCA2):c.4716C>T (p.Ser1572=)
|
rs1395708134
|
0.00002
|
NM_003070.5(SMARCA2):c.4736G>A (p.Arg1579His)
|
rs138760068
|
0.00002
|
NM_003070.5(SMARCA2):c.4764T>A (p.Asp1588Glu)
|
rs372976069
|
0.00002
|
NM_003070.5(SMARCA2):c.1064C>G (p.Ala355Gly)
|
rs1245060732
|
0.00001
|
NM_003070.5(SMARCA2):c.2154C>G (p.Leu718=)
|
rs565609955
|
0.00001
|
NM_003070.5(SMARCA2):c.2452C>T (p.Leu818=)
|
rs886063776
|
0.00001
|
NM_003070.5(SMARCA2):c.2527-3T>C
|
rs781267277
|
0.00001
|
NM_003070.5(SMARCA2):c.3191C>T (p.Ala1064Val)
|
rs747313863
|
0.00001
|
NM_003070.5(SMARCA2):c.3229T>A (p.Ser1077Thr)
|
rs1388950613
|
0.00001
|
NM_003070.5(SMARCA2):c.3882C>G (p.Leu1294=)
|
rs751409386
|
0.00001
|
NM_003070.5(SMARCA2):c.3982-11C>A
|
rs780683031
|
0.00001
|
NM_003070.5(SMARCA2):c.4080T>G (p.Asp1360Glu)
|
rs751758557
|
0.00001
|
NM_003070.5(SMARCA2):c.4164C>T (p.Asn1388=)
|
rs759832527
|
0.00001
|
NM_003070.5(SMARCA2):c.4738-9T>C
|
rs886063796
|
0.00001
|
NM_003070.5(SMARCA2):c.710A>C (p.Gln237Pro)
|
rs1475414100
|
0.00001
|
NM_003070.5(SMARCA2):c.791-7C>T
|
rs558585794
|
0.00001
|
NM_003070.5(SMARCA2):c.869C>T (p.Ala290Val)
|
rs1284404989
|
0.00001
|
NM_003070.5(SMARCA2):c.873C>T (p.Pro291=)
|
rs1339118310
|
0.00001
|
NM_003070.5(SMARCA2):c.890C>A (p.Pro297Gln)
|
rs1417006108
|
0.00001
|
NC_000009.11:g.(?_2170399)_(2170492_?)del
|
|
|
NC_000009.11:g.(?_2181551)_(2192739_?)del
|
|
|
NM_003070.5(SMARCA2):c.1046+7C>T
|
|
|
NM_003070.5(SMARCA2):c.1047-13T>C
|
|
|
NM_003070.5(SMARCA2):c.1047-17T>C
|
|
|
NM_003070.5(SMARCA2):c.104C>T (p.Pro35Leu)
|
|
|
NM_003070.5(SMARCA2):c.1106C>T (p.Pro369Leu)
|
|
|
NM_003070.5(SMARCA2):c.1131C>T (p.Thr377=)
|
|
|
NM_003070.5(SMARCA2):c.113G>A (p.Gly38Asp)
|
|
|
NM_003070.5(SMARCA2):c.1156C>G (p.Leu386Val)
|
|
|
NM_003070.5(SMARCA2):c.1160A>G (p.Asn387Ser)
|
|
|
NM_003070.5(SMARCA2):c.1173+10T>A
|
|
|
NM_003070.5(SMARCA2):c.1173+13C>A
|
|
|
NM_003070.5(SMARCA2):c.1173+15C>T
|
|
|
NM_003070.5(SMARCA2):c.1173+8A>G
|
|
|
NM_003070.5(SMARCA2):c.1174-7T>C
|
|
|
NM_003070.5(SMARCA2):c.1174-8C>T
|
|
|
NM_003070.5(SMARCA2):c.1181A>G (p.Gln394Arg)
|
rs1243149775
|
|
NM_003070.5(SMARCA2):c.118G>A (p.Val40Ile)
|
|
|
NM_003070.5(SMARCA2):c.1194C>T (p.Ala398=)
|
|
|
NM_003070.5(SMARCA2):c.1212G>A (p.Thr404=)
|
|
|
NM_003070.5(SMARCA2):c.1249C>T (p.Arg417Trp)
|
|
|
NM_003070.5(SMARCA2):c.130A>G (p.Met44Val)
|
|
|
NM_003070.5(SMARCA2):c.1312A>G (p.Ile438Val)
|
|
|
NM_003070.5(SMARCA2):c.1347+19T>G
|
|
|
NM_003070.5(SMARCA2):c.1347+20T>C
|
|
|
NM_003070.5(SMARCA2):c.1347+4C>T
|
|
|
NM_003070.5(SMARCA2):c.1347+9A>C
|
rs2130344799
|
|
NM_003070.5(SMARCA2):c.134G>C (p.Gly45Ala)
|
|
|
NM_003070.5(SMARCA2):c.1353C>T (p.Tyr451=)
|
|
|
NM_003070.5(SMARCA2):c.1356G>C (p.Leu452=)
|
|
|
NM_003070.5(SMARCA2):c.1359C>T (p.Asn453=)
|
|
|
NM_003070.5(SMARCA2):c.1374T>C (p.His458=)
|
|
|
NM_003070.5(SMARCA2):c.1378A>G (p.Lys460Glu)
|
rs1445038399
|
|
NM_003070.5(SMARCA2):c.1388A>G (p.Lys463Arg)
|
|
|
NM_003070.5(SMARCA2):c.1426C>G (p.Leu476Val)
|
|
|
NM_003070.5(SMARCA2):c.1434A>G (p.Lys478=)
|
|
|
NM_003070.5(SMARCA2):c.1511G>A (p.Arg504Gln)
|
|
|
NM_003070.5(SMARCA2):c.1521+15G>T
|
|
|
NM_003070.5(SMARCA2):c.1521+16C>T
|
|
|
NM_003070.5(SMARCA2):c.1521+8del
|
|
|
NM_003070.5(SMARCA2):c.1521+9C>G
|
|
|
NM_003070.5(SMARCA2):c.1522-17T>C
|
|
|
NM_003070.5(SMARCA2):c.155G>C (p.Ser52Thr)
|
|
|
NM_003070.5(SMARCA2):c.1569C>G (p.Asp523Glu)
|
|
|
NM_003070.5(SMARCA2):c.1571G>A (p.Arg524Lys)
|
|
|
NM_003070.5(SMARCA2):c.1599C>T (p.Thr533=)
|
rs145129640
|
|
NM_003070.5(SMARCA2):c.1670A>G (p.Lys557Arg)
|
|
|
NM_003070.5(SMARCA2):c.1680G>A (p.Arg560=)
|
|
|
NM_003070.5(SMARCA2):c.1692+10C>G
|
|
|
NM_003070.5(SMARCA2):c.1692+12_1692+13delinsGT
|
|
|
NM_003070.5(SMARCA2):c.1692+20T>C
|
|
|
NM_003070.5(SMARCA2):c.1692+4C>G
|
|
|
NM_003070.5(SMARCA2):c.1692+8T>C
|
|
|
NM_003070.5(SMARCA2):c.1693-15A>G
|
|
|
NM_003070.5(SMARCA2):c.1693-18G>A
|
|
|
NM_003070.5(SMARCA2):c.1728C>T (p.Ala576=)
|
|
|
NM_003070.5(SMARCA2):c.1736C>T (p.Pro579Leu)
|
|
|
NM_003070.5(SMARCA2):c.173C>T (p.Pro58Leu)
|
rs764338204
|
|
NM_003070.5(SMARCA2):c.1746+11G>A
|
|
|
NM_003070.5(SMARCA2):c.1746+20T>G
|
|
|
NM_003070.5(SMARCA2):c.1746+4del
|
rs954125052
|
|
NM_003070.5(SMARCA2):c.1747-11C>A
|
rs960524428
|
|
NM_003070.5(SMARCA2):c.1747-9C>T
|
|
|
NM_003070.5(SMARCA2):c.1818G>T (p.Leu606=)
|
|
|
NM_003070.5(SMARCA2):c.1821C>T (p.Phe607=)
|
|
|
NM_003070.5(SMARCA2):c.1830A>G (p.Glu610=)
|
|
|
NM_003070.5(SMARCA2):c.183G>T (p.Gly61=)
|
|
|
NM_003070.5(SMARCA2):c.1849C>T (p.Leu617=)
|
|
|
NM_003070.5(SMARCA2):c.1877+7C>T
|
|
|
NM_003070.5(SMARCA2):c.1878-16C>T
|
|
|
NM_003070.5(SMARCA2):c.1878-17T>C
|
|
|
NM_003070.5(SMARCA2):c.1878-17dup
|
|
|
NM_003070.5(SMARCA2):c.1878-19C>T
|
|
|
NM_003070.5(SMARCA2):c.1878-4T>A
|
|
|
NM_003070.5(SMARCA2):c.1878-7T>G
|
|
|
NM_003070.5(SMARCA2):c.1878-8T>C
|
|
|
NM_003070.5(SMARCA2):c.187A>T (p.Thr63Ser)
|
|
|
NM_003070.5(SMARCA2):c.1888G>A (p.Ala630Thr)
|
|
|
NM_003070.5(SMARCA2):c.1890C>A (p.Ala630=)
|
|
|
NM_003070.5(SMARCA2):c.189A>C (p.Thr63=)
|
|
|
NM_003070.5(SMARCA2):c.1917T>C (p.Asp639=)
|
|
|
NM_003070.5(SMARCA2):c.1935+10T>C
|
|
|
NM_003070.5(SMARCA2):c.1935+11A>G
|
|
|
NM_003070.5(SMARCA2):c.1935+13C>T
|
|
|
NM_003070.5(SMARCA2):c.1936-10C>T
|
|
|
NM_003070.5(SMARCA2):c.1936-13G>T
|
|
|
NM_003070.5(SMARCA2):c.1941G>T (p.Glu647Asp)
|
|
|
NM_003070.5(SMARCA2):c.1967C>T (p.Thr656Ile)
|
|
|
NM_003070.5(SMARCA2):c.1968C>T (p.Thr656=)
|
|
|
NM_003070.5(SMARCA2):c.2004A>G (p.Glu668=)
|
|
|
NM_003070.5(SMARCA2):c.2009C>G (p.Ser670Cys)
|
|
|
NM_003070.5(SMARCA2):c.2010T>C (p.Ser670=)
|
|
|
NM_003070.5(SMARCA2):c.2019T>C (p.Asp673=)
|
|
|
NM_003070.5(SMARCA2):c.2027A>T (p.Gln676Leu)
|
|
|
NM_003070.5(SMARCA2):c.2036+17del
|
|
|
NM_003070.5(SMARCA2):c.2037-9C>T
|
|
|
NM_003070.5(SMARCA2):c.2052C>T (p.Asp684=)
|
|
|
NM_003070.5(SMARCA2):c.2055G>T (p.Val685=)
|
|
|
NM_003070.5(SMARCA2):c.2068A>G (p.Ser690Gly)
|
|
|
NM_003070.5(SMARCA2):c.2078A>G (p.Tyr693Cys)
|
|
|
NM_003070.5(SMARCA2):c.208A>T (p.Met70Leu)
|
|
|
NM_003070.5(SMARCA2):c.2100C>G (p.Ser700=)
|
|
|
NM_003070.5(SMARCA2):c.2109C>G (p.Thr703=)
|
|
|
NM_003070.5(SMARCA2):c.2109C>T (p.Thr703=)
|
|
|
NM_003070.5(SMARCA2):c.2151C>T (p.Ala717=)
|
|
|
NM_003070.5(SMARCA2):c.2185-8C>T
|
|
|
NM_003070.5(SMARCA2):c.2212C>T (p.Leu738=)
|
|
|
NM_003070.5(SMARCA2):c.2232C>T (p.Asn744=)
|
|
|
NM_003070.5(SMARCA2):c.225+12T>C
|
|
|
NM_003070.5(SMARCA2):c.225+7G>A
|
|
|
NM_003070.5(SMARCA2):c.2255G>C (p.Gly752Ala)
|
rs281875198
|
|
NM_003070.5(SMARCA2):c.2265G>C (p.Lys755Asn)
|
|
|
NM_003070.5(SMARCA2):c.2280T>C (p.Ile760=)
|
|
|
NM_003070.5(SMARCA2):c.2286C>T (p.Leu762=)
|
|
|
NM_003070.5(SMARCA2):c.228C>T (p.Pro76=)
|
|
|
NM_003070.5(SMARCA2):c.2295T>C (p.Tyr765=)
|
|
|
NM_003070.5(SMARCA2):c.2306A>G (p.His769Arg)
|
|
|
NM_003070.5(SMARCA2):c.2341C>T (p.Pro781Ser)
|
|
|
NM_003070.5(SMARCA2):c.2343C>T (p.Pro781=)
|
|
|
NM_003070.5(SMARCA2):c.2348+12C>T
|
|
|
NM_003070.5(SMARCA2):c.2348+9A>C
|
rs2130464724
|
|
NM_003070.5(SMARCA2):c.2349-19T>G
|
|
|
NM_003070.5(SMARCA2):c.2355A>G (p.Leu785=)
|
|
|
NM_003070.5(SMARCA2):c.238A>G (p.Ile80Val)
|
|
|
NM_003070.5(SMARCA2):c.2398G>A (p.Val800Met)
|
|
|
NM_003070.5(SMARCA2):c.2400G>T (p.Val800=)
|
|
|
NM_003070.5(SMARCA2):c.2401A>G (p.Lys801Glu)
|
|
|
NM_003070.5(SMARCA2):c.2415+18T>G
|
|
|
NM_003070.5(SMARCA2):c.2415+3T>C
|
|
|
NM_003070.5(SMARCA2):c.2457G>A (p.Arg819=)
|
|
|
NM_003070.5(SMARCA2):c.2471A>G (p.Asn824Ser)
|
|
|
NM_003070.5(SMARCA2):c.2475C>A (p.Val825=)
|
|
|
NM_003070.5(SMARCA2):c.2476C>G (p.Leu826Val)
|
|
|
NM_003070.5(SMARCA2):c.2478C>T (p.Leu826=)
|
|
|
NM_003070.5(SMARCA2):c.251G>A (p.Gly84Glu)
|
rs1007247960
|
|
NM_003070.5(SMARCA2):c.2526+11A>G
|
|
|
NM_003070.5(SMARCA2):c.2526+16del
|
|
|
NM_003070.5(SMARCA2):c.2526+17T>A
|
|
|
NM_003070.5(SMARCA2):c.2526+19A>G
|
|
|
NM_003070.5(SMARCA2):c.2527-12C>T
|
|
|
NM_003070.5(SMARCA2):c.2550G>T (p.Val850=)
|
|
|
NM_003070.5(SMARCA2):c.2551G>A (p.Asp851Asn)
|
|
|
NM_003070.5(SMARCA2):c.2553C>T (p.Asp851=)
|
|
|
NM_003070.5(SMARCA2):c.2569A>G (p.Lys857Glu)
|
|
|
NM_003070.5(SMARCA2):c.2595G>A (p.Gln865=)
|
|
|
NM_003070.5(SMARCA2):c.2598C>T (p.Val866=)
|
|
|
NM_003070.5(SMARCA2):c.2604C>T (p.Asn868=)
|
|
|
NM_003070.5(SMARCA2):c.2643G>C (p.Gly881=)
|
|
|
NM_003070.5(SMARCA2):c.2648C>T (p.Pro883Leu)
|
rs281875188
|
|
NM_003070.5(SMARCA2):c.2649G>A (p.Pro883=)
|
|
|
NM_003070.5(SMARCA2):c.2770-13G>A
|
|
|
NM_003070.5(SMARCA2):c.2770-3C>T
|
|
|
NM_003070.5(SMARCA2):c.2792C>G (p.Thr931Ser)
|
rs2130492796
|
|
NM_003070.5(SMARCA2):c.27G>A (p.Ala9=)
|
|
|
NM_003070.5(SMARCA2):c.2812C>T (p.Leu938=)
|
|
|
NM_003070.5(SMARCA2):c.2814A>G (p.Leu938=)
|
|
|
NM_003070.5(SMARCA2):c.2859A>G (p.Glu953=)
|
|
|
NM_003070.5(SMARCA2):c.2877C>T (p.Pro959=)
|
|
|
NM_003070.5(SMARCA2):c.2884-4G>A
|
|
|
NM_003070.5(SMARCA2):c.2889A>G (p.Glu963=)
|
|
|
NM_003070.5(SMARCA2):c.289A>G (p.Thr97Ala)
|
|
|
NM_003070.5(SMARCA2):c.2955G>C (p.Gly985=)
|
|
|
NM_003070.5(SMARCA2):c.2991+10G>A
|
rs17712152
|
|
NM_003070.5(SMARCA2):c.2991+10G>T
|
rs17712152
|
|
NM_003070.5(SMARCA2):c.2991+19T>C
|
|
|
NM_003070.5(SMARCA2):c.2991+4C>T
|
|
|
NM_003070.5(SMARCA2):c.2991+5G>A
|
|
|
NM_003070.5(SMARCA2):c.2991+9C>G
|
|
|
NM_003070.5(SMARCA2):c.2991+9C>T
|
|
|
NM_003070.5(SMARCA2):c.2992-13C>T
|
|
|
NM_003070.5(SMARCA2):c.2992-18C>G
|
|
|
NM_003070.5(SMARCA2):c.2992-19C>A
|
|
|
NM_003070.5(SMARCA2):c.2992-20C>T
|
|
|
NM_003070.5(SMARCA2):c.3034T>C (p.Leu1012=)
|
|
|
NM_003070.5(SMARCA2):c.304C>A (p.Pro102Thr)
|
|
|
NM_003070.5(SMARCA2):c.305C>A (p.Pro102His)
|
|
|
NM_003070.5(SMARCA2):c.3078+9G>A
|
|
|
NM_003070.5(SMARCA2):c.3094C>T (p.His1032Tyr)
|
|
|
NM_003070.5(SMARCA2):c.310C>T (p.Pro104Ser)
|
|
|
NM_003070.5(SMARCA2):c.3125+13T>C
|
|
|
NM_003070.5(SMARCA2):c.3125+16T>A
|
|
|
NM_003070.5(SMARCA2):c.3125+21del
|
|
|
NM_003070.5(SMARCA2):c.3125+5A>G
|
|
|
NM_003070.5(SMARCA2):c.3126-9dup
|
|
|
NM_003070.5(SMARCA2):c.3137A>T (p.Tyr1046Phe)
|
|
|
NM_003070.5(SMARCA2):c.3159G>A (p.Glu1053=)
|
|
|
NM_003070.5(SMARCA2):c.316A>G (p.Met106Val)
|
|
|
NM_003070.5(SMARCA2):c.3192G>T (p.Ala1064=)
|
|
|
NM_003070.5(SMARCA2):c.31C>T (p.Pro11Ser)
|
|
|
NM_003070.5(SMARCA2):c.3201C>T (p.His1067=)
|
|
|
NM_003070.5(SMARCA2):c.3207G>A (p.Val1069=)
|
|
|
NM_003070.5(SMARCA2):c.3213T>C (p.Leu1071=)
|
|
|
NM_003070.5(SMARCA2):c.3228A>G (p.Thr1076=)
|
|
|
NM_003070.5(SMARCA2):c.3292+15C>T
|
rs2130556495
|
|
NM_003070.5(SMARCA2):c.3293-11G>C
|
|
|
NM_003070.5(SMARCA2):c.3293-13del
|
|
|
NM_003070.5(SMARCA2):c.3294C>T (p.Gly1098=)
|
|
|
NM_003070.5(SMARCA2):c.3300C>T (p.Thr1100=)
|
|
|
NM_003070.5(SMARCA2):c.3303G>C (p.Lys1101Asn)
|
|
|
NM_003070.5(SMARCA2):c.3314G>C (p.Arg1105Pro)
|
rs281875197
|
|
NM_003070.5(SMARCA2):c.3344C>T (p.Pro1115Leu)
|
|
|
NM_003070.5(SMARCA2):c.337A>C (p.Met113Leu)
|
|
|
NM_003070.5(SMARCA2):c.3384TGG[3] (p.Gly1130_Leu1131insGly)
|
|
|
NM_003070.5(SMARCA2):c.3420A>T (p.Thr1140=)
|
|
|
NM_003070.5(SMARCA2):c.3439G>A (p.Asp1147Asn)
|
rs886041299
|
|
NM_003070.5(SMARCA2):c.3448C>T (p.Pro1150Ser)
|
|
|
NM_003070.5(SMARCA2):c.3456+11C>G
|
|
|
NM_003070.5(SMARCA2):c.3457-12C>T
|
|
|
NM_003070.5(SMARCA2):c.3457-16T>C
|
|
|
NM_003070.5(SMARCA2):c.3457-19A>T
|
|
|
NM_003070.5(SMARCA2):c.3457-6A>G
|
|
|
NM_003070.5(SMARCA2):c.3458A>T (p.Asp1153Val)
|
|
|
NM_003070.5(SMARCA2):c.3528C>G (p.Thr1176=)
|
|
|
NM_003070.5(SMARCA2):c.3528C>T (p.Thr1176=)
|
|
|
NM_003070.5(SMARCA2):c.355+10C>T
|
|
|
NM_003070.5(SMARCA2):c.355+18A>G
|
rs1262234607
|
|
NM_003070.5(SMARCA2):c.3579C>A (p.Asn1193Lys)
|
|
|
NM_003070.5(SMARCA2):c.3579C>T (p.Asn1193=)
|
|
|
NM_003070.5(SMARCA2):c.3594G>C (p.Val1198=)
|
|
|
NM_003070.5(SMARCA2):c.3609G>A (p.Met1203Ile)
|
|
|
NM_003070.5(SMARCA2):c.3644C>T (p.Ala1215Val)
|
|
|
NM_003070.5(SMARCA2):c.3648C>T (p.Phe1216=)
|
|
|
NM_003070.5(SMARCA2):c.3684+10A>T
|
|
|
NM_003070.5(SMARCA2):c.3685-9T>C
|
|
|
NM_003070.5(SMARCA2):c.3705C>T (p.Asp1235=)
|
|
|
NM_003070.5(SMARCA2):c.3770A>C (p.Asp1257Ala)
|
|
|
NM_003070.5(SMARCA2):c.3779G>A (p.Arg1260Gln)
|
rs2130626217
|
|
NM_003070.5(SMARCA2):c.3780G>A (p.Arg1260=)
|
rs777556670
|
|
NM_003070.5(SMARCA2):c.3785G>C (p.Arg1262Thr)
|
|
|
NM_003070.5(SMARCA2):c.3807A>G (p.Lys1269=)
|
|
|
NM_003070.5(SMARCA2):c.3837G>A (p.Glu1279=)
|
|
|
NM_003070.5(SMARCA2):c.3844T>C (p.Ser1282Pro)
|
|
|
NM_003070.5(SMARCA2):c.3885C>T (p.Thr1295=)
|
|
|
NM_003070.5(SMARCA2):c.3894A>C (p.Glu1298Asp)
|
rs141291951
|
|
NM_003070.5(SMARCA2):c.3894A>G (p.Glu1298=)
|
|
|
NM_003070.5(SMARCA2):c.3918G>A (p.Arg1306=)
|
|
|
NM_003070.5(SMARCA2):c.3957C>T (p.Ala1319=)
|
|
|
NM_003070.5(SMARCA2):c.3982-6G>A
|
|
|
NM_003070.5(SMARCA2):c.3988G>A (p.Glu1330Lys)
|
|
|
NM_003070.5(SMARCA2):c.4029T>A (p.Leu1343=)
|
rs150227062
|
|
NM_003070.5(SMARCA2):c.4029T>G (p.Leu1343=)
|
rs150227062
|
|
NM_003070.5(SMARCA2):c.4045C>G (p.Arg1349Gly)
|
|
|
NM_003070.5(SMARCA2):c.4059T>C (p.Asp1353=)
|
|
|
NM_003070.5(SMARCA2):c.4067C>T (p.Pro1356Leu)
|
|
|
NM_003070.5(SMARCA2):c.4081G>A (p.Val1361Met)
|
|
|
NM_003070.5(SMARCA2):c.4116C>T (p.Pro1372=)
|
|
|
NM_003070.5(SMARCA2):c.4147C>A (p.Leu1383Met)
|
|
|
NM_003070.5(SMARCA2):c.4149G>A (p.Leu1383=)
|
|
|
NM_003070.5(SMARCA2):c.4173C>T (p.Ile1391=)
|
|
|
NM_003070.5(SMARCA2):c.4196A>G (p.Asp1399Gly)
|
|
|
NM_003070.5(SMARCA2):c.4200-5C>T
|
|
|
NM_003070.5(SMARCA2):c.4205A>T (p.Asn1402Ile)
|
|
|
NM_003070.5(SMARCA2):c.4218G>A (p.Val1406=)
|
rs558384854
|
|
NM_003070.5(SMARCA2):c.4223G>A (p.Ser1408Asn)
|
|
|
NM_003070.5(SMARCA2):c.4234T>C (p.Leu1412=)
|
|
|
NM_003070.5(SMARCA2):c.4237G>A (p.Glu1413Lys)
|
|
|
NM_003070.5(SMARCA2):c.4239A>G (p.Glu1413=)
|
|
|
NM_003070.5(SMARCA2):c.4243G>A (p.Glu1415Lys)
|
|
|
NM_003070.5(SMARCA2):c.4253+12T>C
|
|
|
NM_003070.5(SMARCA2):c.4253+16G>A
|
|
|
NM_003070.5(SMARCA2):c.4253+18A>G
|
|
|
NM_003070.5(SMARCA2):c.4253+6G>A
|
|
|
NM_003070.5(SMARCA2):c.4253+9C>T
|
rs757009984
|
|
NM_003070.5(SMARCA2):c.4254-15T>G
|
|
|
NM_003070.5(SMARCA2):c.4254-18G>C
|
rs201349909
|
|
NM_003070.5(SMARCA2):c.4254-20T>C
|
|
|
NM_003070.5(SMARCA2):c.4254-4A>G
|
|
|
NM_003070.5(SMARCA2):c.4283_4286del (p.Ile1428fs)
|
rs2129876075
|
|
NM_003070.5(SMARCA2):c.4294_4330dup (p.Arg1444delinsIleLysGluArgIleThrArgIleLeuTer)
|
|
|
NM_003070.5(SMARCA2):c.4296A>G (p.Ser1432=)
|
|
|
NM_003070.5(SMARCA2):c.4347C>T (p.Phe1449=)
|
|
|
NM_003070.5(SMARCA2):c.4359+5A>G
|
|
|
NM_003070.5(SMARCA2):c.4359+6T>C
|
|
|
NM_003070.5(SMARCA2):c.4360-16C>T
|
rs142175015
|
|
NM_003070.5(SMARCA2):c.4360-9T>A
|
|
|
NM_003070.5(SMARCA2):c.4366A>G (p.Ile1456Val)
|
|
|
NM_003070.5(SMARCA2):c.4377T>C (p.His1459=)
|
|
|
NM_003070.5(SMARCA2):c.4384C>G (p.Arg1462Gly)
|
|
|
NM_003070.5(SMARCA2):c.4395C>G (p.Gly1465=)
|
|
|
NM_003070.5(SMARCA2):c.4431C>T (p.Asn1477=)
|
|
|
NM_003070.5(SMARCA2):c.4458C>G (p.Ser1486=)
|
|
|
NM_003070.5(SMARCA2):c.4461+10_4461+11del
|
rs1261682948
|
|
NM_003070.5(SMARCA2):c.4461+13_4461+17del
|
|
|
NM_003070.5(SMARCA2):c.4461+17del
|
rs777462019
|
|
NM_003070.5(SMARCA2):c.4462-14del
|
rs2129940290
|
|
NM_003070.5(SMARCA2):c.4488G>C (p.Gln1496His)
|
|
|
NM_003070.5(SMARCA2):c.4500G>C (p.Lys1500Asn)
|
|
|
NM_003070.5(SMARCA2):c.4540G>C (p.Asp1514His)
|
|
|
NM_003070.5(SMARCA2):c.4548C>T (p.Ser1516=)
|
|
|
NM_003070.5(SMARCA2):c.4549_4557del (p.Asn1517_Glu1519del)
|
|
|
NM_003070.5(SMARCA2):c.4560GGAAGA[1] (p.Glu1522_Glu1523del)
|
|
|
NM_003070.5(SMARCA2):c.4564G>C (p.Glu1522Gln)
|
|
|
NM_003070.5(SMARCA2):c.4575AGA[1] (p.Glu1527del)
|
|
|
NM_003070.5(SMARCA2):c.4583C>T (p.Ser1528Leu)
|
|
|
NM_003070.5(SMARCA2):c.4584A>G (p.Ser1528=)
|
rs543880790
|
|
NM_003070.5(SMARCA2):c.4585G>C (p.Glu1529Gln)
|
|
|
NM_003070.5(SMARCA2):c.4589C>G (p.Ser1530Cys)
|
|
|
NM_003070.5(SMARCA2):c.4594+16C>T
|
rs377486807
|
|
NM_003070.5(SMARCA2):c.4594+17G>A
|
|
|
NM_003070.5(SMARCA2):c.4595-1G>C
|
|
|
NM_003070.5(SMARCA2):c.4603G>A (p.Val1535Ile)
|
|
|
NM_003070.5(SMARCA2):c.4607A>C (p.Lys1536Thr)
|
|
|
NM_003070.5(SMARCA2):c.4634A>T (p.Asp1545Val)
|
rs1827864772
|
|
NM_003070.5(SMARCA2):c.4635T>C (p.Asp1545=)
|
|
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NM_003070.5(SMARCA2):c.4644C>T (p.Gly1548=)
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NM_003070.5(SMARCA2):c.4644_4655del (p.Arg1549_Gly1552del)
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NM_003070.5(SMARCA2):c.4696G>C (p.Val1566Leu)
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rs1827870545
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NM_003070.5(SMARCA2):c.4708T>C (p.Phe1570Leu)
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rs1373182486
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NM_003070.5(SMARCA2):c.4734A>T (p.Glu1578Asp)
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NM_003070.5(SMARCA2):c.4735C>T (p.Arg1579Cys)
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NM_003070.5(SMARCA2):c.4737+11C>G
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NM_003070.5(SMARCA2):c.4737+17G>C
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NM_003070.5(SMARCA2):c.4737+20A>G
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NM_003070.5(SMARCA2):c.4738-12T>C
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NM_003070.5(SMARCA2):c.4738-14_4738-11dup
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NM_003070.5(SMARCA2):c.4738-15T>C
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NM_003070.5(SMARCA2):c.4738-17_4738-15del
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NM_003070.5(SMARCA2):c.4743G>T (p.Gln1581His)
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NM_003070.5(SMARCA2):c.4750G>T (p.Gly1584Ter)
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NM_003070.5(SMARCA2):c.4758G>T (p.Gly1586=)
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NM_003070.5(SMARCA2):c.4760C>T (p.Thr1587Met)
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NM_003070.5(SMARCA2):c.483G>T (p.Pro161=)
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rs146359524
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NM_003070.5(SMARCA2):c.51G>A (p.Pro17=)
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NM_003070.5(SMARCA2):c.51G>C (p.Pro17=)
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rs148865068
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NM_003070.5(SMARCA2):c.53G>A (p.Gly18Glu)
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NM_003070.5(SMARCA2):c.669GCA[10] (p.Gln236_Gln238del)
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rs113070757
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NM_003070.5(SMARCA2):c.669GCA[12] (p.Gln238del)
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rs113070757
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NM_003070.5(SMARCA2):c.669GCA[14] (p.Gln238dup)
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rs113070757
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NM_003070.5(SMARCA2):c.669GCA[15] (p.Gln237_Gln238dup)
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rs113070757
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NM_003070.5(SMARCA2):c.669GCA[16] (p.Gln236_Gln238dup)
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rs113070757
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NM_003070.5(SMARCA2):c.669GCA[6] (p.Gln232_Gln238del)
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rs113070757
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NM_003070.5(SMARCA2):c.669GCA[7] (p.Gln233_Gln238del)
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rs113070757
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NM_003070.5(SMARCA2):c.669GCA[8] (p.Gln234_Gln238del)
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rs113070757
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NM_003070.5(SMARCA2):c.669GCA[9] (p.Gln235_Gln238del)
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rs113070757
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NM_003070.5(SMARCA2):c.685_686insCGC (p.Gln228_Gln229insPro)
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rs751906633
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NM_003070.5(SMARCA2):c.716C>T (p.Pro239Leu)
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rs752254994
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NM_003070.5(SMARCA2):c.750A>G (p.Gln250=)
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rs62639302
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NM_003070.5(SMARCA2):c.77T>C (p.Ile26Thr)
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NM_003070.5(SMARCA2):c.791-19dup
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NM_003070.5(SMARCA2):c.804G>C (p.Glu268Asp)
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NM_003070.5(SMARCA2):c.807G>C (p.Leu269=)
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NM_003070.5(SMARCA2):c.810C>T (p.Ser270=)
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NM_003070.5(SMARCA2):c.818G>A (p.Ser273Asn)
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NM_003070.5(SMARCA2):c.832C>A (p.Leu278Met)
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NM_003070.5(SMARCA2):c.836C>A (p.Pro279Gln)
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NM_003070.5(SMARCA2):c.836C>G (p.Pro279Arg)
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NM_003070.5(SMARCA2):c.841C>A (p.Pro281Thr)
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NM_003070.5(SMARCA2):c.842C>T (p.Pro281Leu)
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NM_003070.5(SMARCA2):c.849C>A (p.Pro283=)
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NM_003070.5(SMARCA2):c.849C>T (p.Pro283=)
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NM_003070.5(SMARCA2):c.850_873dup (p.Pro291_Pro292insGlyGlyArgProSerProAlaPro)
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NM_003070.5(SMARCA2):c.865C>T (p.Pro289Ser)
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NM_003070.5(SMARCA2):c.869_952del (p.Ala290_Pro317del)
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NM_003070.5(SMARCA2):c.871C>T (p.Pro291Ser)
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NM_003070.5(SMARCA2):c.872C>G (p.Pro291Arg)
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NM_003070.5(SMARCA2):c.873_890del (p.Gln296_Ala301del)
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NM_003070.5(SMARCA2):c.874C>T (p.Pro292Ser)
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rs1486358678
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NM_003070.5(SMARCA2):c.876C>G (p.Pro292=)
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NM_003070.5(SMARCA2):c.891G>T (p.Pro297=)
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NM_003070.5(SMARCA2):c.897G>T (p.Ala299=)
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NM_003070.5(SMARCA2):c.923C>G (p.Pro308Arg)
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NM_003070.5(SMARCA2):c.982A>C (p.Ile328Leu)
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NM_003070.5(SMARCA2):c.995A>C (p.Gln332Pro)
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NM_003070.5(SMARCA2):c.9G>A (p.Thr3=)
|
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