NM_003070.5(SMARCA2):c.4516A>T (p.Ile1506Phe)
|
rs147135956
|
0.00018
|
NM_003070.5(SMARCA2):c.175A>T (p.Thr59Ser)
|
rs138129490
|
0.00008
|
NM_003070.5(SMARCA2):c.3079-11C>G
|
rs1475613138
|
0.00003
|
NM_003070.5(SMARCA2):c.1325G>A (p.Arg442Lys)
|
rs752101801
|
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.1211C>T (p.Thr404Met)
|
rs1402196351
|
0.00001
|
NM_003070.5(SMARCA2):c.1625A>G (p.Asn542Ser)
|
rs767419753
|
0.00001
|
NM_003070.5(SMARCA2):c.2126C>T (p.Ser709Leu)
|
rs199989401
|
0.00001
|
NM_003070.5(SMARCA2):c.2425G>C (p.Ala809Pro)
|
rs886351989
|
0.00001
|
NM_003070.5(SMARCA2):c.2527-3T>C
|
rs781267277
|
0.00001
|
NM_003070.5(SMARCA2):c.2878G>A (p.Glu960Lys)
|
rs1294074487
|
0.00001
|
NM_003070.5(SMARCA2):c.3229T>A (p.Ser1077Thr)
|
rs1388950613
|
0.00001
|
NM_003070.5(SMARCA2):c.4508G>A (p.Arg1503Gln)
|
rs763271526
|
0.00001
|
NM_003070.5(SMARCA2):c.710A>C (p.Gln237Pro)
|
rs1475414100
|
0.00001
|
NM_003070.5(SMARCA2):c.763G>A (p.Ala255Thr)
|
rs745669287
|
0.00001
|
NM_003070.5(SMARCA2):c.869C>T (p.Ala290Val)
|
rs1284404989
|
0.00001
|
NM_003070.5(SMARCA2):c.890C>A (p.Pro297Gln)
|
rs1417006108
|
0.00001
|
GRCh37/hg19 9p24.3(chr9:1894473-2017932)x1
|
|
|
GRCh37/hg19 9p24.3(chr9:2130392-2185324)x1
|
|
|
GRCh37/hg19 9p24.3-24.2(chr9:1627292-2217469)x3
|
|
|
GRCh37/hg19 9p24.3-24.2(chr9:2084116-2582828)x1
|
|
|
NC_000009.11:g.(?_2170399)_(2170492_?)del
|
|
|
NC_000009.11:g.(?_2181551)_(2192739_?)del
|
|
|
NM_003070.5(SMARCA2):c.1014C>A (p.Asp338Glu)
|
|
|
NM_003070.5(SMARCA2):c.1018G>T (p.Val340Leu)
|
|
|
NM_003070.5(SMARCA2):c.113G>A (p.Gly38Asp)
|
|
|
NM_003070.5(SMARCA2):c.1156C>G (p.Leu386Val)
|
|
|
NM_003070.5(SMARCA2):c.1181A>G (p.Gln394Arg)
|
rs1243149775
|
|
NM_003070.5(SMARCA2):c.1226C>G (p.Ala409Gly)
|
rs2130344304
|
|
NM_003070.5(SMARCA2):c.1232A>G (p.Asn411Ser)
|
rs1820371484
|
|
NM_003070.5(SMARCA2):c.1235C>A (p.Ser412Tyr)
|
|
|
NM_003070.5(SMARCA2):c.1240G>A (p.Ala414Thr)
|
rs1554618664
|
|
NM_003070.5(SMARCA2):c.1249C>T (p.Arg417Trp)
|
|
|
NM_003070.5(SMARCA2):c.1265C>G (p.Thr422Ser)
|
|
|
NM_003070.5(SMARCA2):c.1279C>T (p.Arg427Cys)
|
rs1820373261
|
|
NM_003070.5(SMARCA2):c.130A>G (p.Met44Val)
|
|
|
NM_003070.5(SMARCA2):c.1347+4C>T
|
|
|
NM_003070.5(SMARCA2):c.1378A>G (p.Lys460Glu)
|
rs1445038399
|
|
NM_003070.5(SMARCA2):c.1388A>G (p.Lys463Arg)
|
|
|
NM_003070.5(SMARCA2):c.1436C>T (p.Ala479Val)
|
rs2130352140
|
|
NM_003070.5(SMARCA2):c.143C>G (p.Pro48Arg)
|
|
|
NM_003070.5(SMARCA2):c.1488G>C (p.Glu496Asp)
|
|
|
NM_003070.5(SMARCA2):c.1489C>A (p.Arg497=)
|
|
|
NM_003070.5(SMARCA2):c.154A>G (p.Ser52Gly)
|
|
|
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.1608T>A (p.Tyr536Ter)
|
|
|
NM_003070.5(SMARCA2):c.1670A>G (p.Lys557Arg)
|
|
|
NM_003070.5(SMARCA2):c.1685G>A (p.Arg562Lys)
|
|
|
NM_003070.5(SMARCA2):c.1692+4C>G
|
|
|
NM_003070.5(SMARCA2):c.1726G>A (p.Ala576Thr)
|
|
|
NM_003070.5(SMARCA2):c.1758G>C (p.Glu586Asp)
|
|
|
NM_003070.5(SMARCA2):c.1804A>G (p.Thr602Ala)
|
|
|
NM_003070.5(SMARCA2):c.182G>C (p.Gly61Ala)
|
rs754667442
|
|
NM_003070.5(SMARCA2):c.1877+7C>T
|
|
|
NM_003070.5(SMARCA2):c.1881T>A (p.Tyr627Ter)
|
|
|
NM_003070.5(SMARCA2):c.1883A>C (p.Glu628Ala)
|
|
|
NM_003070.5(SMARCA2):c.1888G>A (p.Ala630Thr)
|
|
|
NM_003070.5(SMARCA2):c.1931A>C (p.Glu644Ala)
|
rs2130427978
|
|
NM_003070.5(SMARCA2):c.1936-12T>A
|
rs2130439407
|
|
NM_003070.5(SMARCA2):c.193T>C (p.Phe65Leu)
|
|
|
NM_003070.5(SMARCA2):c.1941G>T (p.Glu647Asp)
|
|
|
NM_003070.5(SMARCA2):c.1952C>A (p.Ser651Tyr)
|
|
|
NM_003070.5(SMARCA2):c.1967C>T (p.Thr656Ile)
|
|
|
NM_003070.5(SMARCA2):c.196C>G (p.Pro66Ala)
|
|
|
NM_003070.5(SMARCA2):c.2009C>G (p.Ser670Cys)
|
|
|
NM_003070.5(SMARCA2):c.2027A>T (p.Gln676Leu)
|
|
|
NM_003070.5(SMARCA2):c.2068A>G (p.Ser690Gly)
|
|
|
NM_003070.5(SMARCA2):c.2078A>G (p.Tyr693Cys)
|
|
|
NM_003070.5(SMARCA2):c.2082T>G (p.Ser694Arg)
|
rs1263255821
|
|
NM_003070.5(SMARCA2):c.209T>A (p.Met70Lys)
|
rs2130179805
|
|
NM_003070.5(SMARCA2):c.229A>G (p.Ile77Val)
|
|
|
NM_003070.5(SMARCA2):c.2306A>G (p.His769Arg)
|
|
|
NM_003070.5(SMARCA2):c.2341C>T (p.Pro781Ser)
|
|
|
NM_003070.5(SMARCA2):c.2376T>A (p.Phe792Leu)
|
|
|
NM_003070.5(SMARCA2):c.238A>G (p.Ile80Val)
|
|
|
NM_003070.5(SMARCA2):c.2398G>A (p.Val800Met)
|
|
|
NM_003070.5(SMARCA2):c.2401A>G (p.Lys801Glu)
|
|
|
NM_003070.5(SMARCA2):c.2415+3T>C
|
|
|
NM_003070.5(SMARCA2):c.2420C>T (p.Thr807Ile)
|
rs1554623478
|
|
NM_003070.5(SMARCA2):c.2476C>G (p.Leu826Val)
|
|
|
NM_003070.5(SMARCA2):c.248A>C (p.Lys83Thr)
|
|
|
NM_003070.5(SMARCA2):c.251G>A (p.Gly84Glu)
|
rs1007247960
|
|
NM_003070.5(SMARCA2):c.2526+1G>A
|
|
|
NM_003070.5(SMARCA2):c.2527A>T (p.Ile843Phe)
|
rs2130486187
|
|
NM_003070.5(SMARCA2):c.2569A>G (p.Lys857Glu)
|
|
|
NM_003070.5(SMARCA2):c.2595G>A (p.Gln865=)
|
|
|
NM_003070.5(SMARCA2):c.2770-3C>T
|
|
|
NM_003070.5(SMARCA2):c.2792C>G (p.Thr931Ser)
|
rs2130492796
|
|
NM_003070.5(SMARCA2):c.2794A>T (p.Ile932Leu)
|
rs1131692008
|
|
NM_003070.5(SMARCA2):c.2932T>C (p.Tyr978His)
|
rs2130525796
|
|
NM_003070.5(SMARCA2):c.2939A>G (p.His980Arg)
|
rs2130525863
|
|
NM_003070.5(SMARCA2):c.2991+4C>T
|
|
|
NM_003070.5(SMARCA2):c.2991+5G>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+5A>G
|
|
|
NM_003070.5(SMARCA2):c.3134T>C (p.Leu1045Pro)
|
|
|
NM_003070.5(SMARCA2):c.3140G>A (p.Arg1047Gln)
|
|
|
NM_003070.5(SMARCA2):c.3169C>T (p.Arg1057Cys)
|
|
|
NM_003070.5(SMARCA2):c.316A>G (p.Met106Val)
|
|
|
NM_003070.5(SMARCA2):c.3265C>T (p.Arg1089Trp)
|
rs766894963
|
|
NM_003070.5(SMARCA2):c.3283C>T (p.Arg1095Cys)
|
|
|
NM_003070.5(SMARCA2):c.3292G>C (p.Gly1098Arg)
|
|
|
NM_003070.5(SMARCA2):c.3303G>C (p.Lys1101Asn)
|
|
|
NM_003070.5(SMARCA2):c.3344C>T (p.Pro1115Leu)
|
|
|
NM_003070.5(SMARCA2):c.334C>T (p.Pro112Ser)
|
rs2130202272
|
|
NM_003070.5(SMARCA2):c.3368T>G (p.Leu1123Trp)
|
|
|
NM_003070.5(SMARCA2):c.3379A>G (p.Arg1127Gly)
|
rs1586715646
|
|
NM_003070.5(SMARCA2):c.337A>C (p.Met113Leu)
|
|
|
NM_003070.5(SMARCA2):c.3391del (p.Leu1131fs)
|
|
|
NM_003070.5(SMARCA2):c.3439G>A (p.Asp1147Asn)
|
rs886041299
|
|
NM_003070.5(SMARCA2):c.3448C>T (p.Pro1150Ser)
|
|
|
NM_003070.5(SMARCA2):c.344A>T (p.Gln115Leu)
|
rs1218358072
|
|
NM_003070.5(SMARCA2):c.3458A>T (p.Asp1153Val)
|
|
|
NM_003070.5(SMARCA2):c.3519G>T (p.Arg1173Ser)
|
rs2130599717
|
|
NM_003070.5(SMARCA2):c.3579C>A (p.Asn1193Lys)
|
|
|
NM_003070.5(SMARCA2):c.3607A>G (p.Met1203Val)
|
|
|
NM_003070.5(SMARCA2):c.3609G>A (p.Met1203Ile)
|
|
|
NM_003070.5(SMARCA2):c.3615C>G (p.Asp1205Glu)
|
rs2130600052
|
|
NM_003070.5(SMARCA2):c.3644C>T (p.Ala1215Val)
|
|
|
NM_003070.5(SMARCA2):c.373C>T (p.Pro125Ser)
|
|
|
NM_003070.5(SMARCA2):c.3770A>C (p.Asp1257Ala)
|
|
|
NM_003070.5(SMARCA2):c.3779G>A (p.Arg1260Gln)
|
rs2130626217
|
|
NM_003070.5(SMARCA2):c.3785G>C (p.Arg1262Thr)
|
|
|
NM_003070.5(SMARCA2):c.3796C>G (p.Arg1266Gly)
|
rs768875248
|
|
NM_003070.5(SMARCA2):c.3844T>C (p.Ser1282Pro)
|
|
|
NM_003070.5(SMARCA2):c.3887G>A (p.Cys1296Tyr)
|
|
|
NM_003070.5(SMARCA2):c.3894A>C (p.Glu1298Asp)
|
rs141291951
|
|
NM_003070.5(SMARCA2):c.3932G>C (p.Arg1311Pro)
|
|
|
NM_003070.5(SMARCA2):c.3940G>A (p.Val1314Met)
|
rs1823574246
|
|
NM_003070.5(SMARCA2):c.3982-4A>T
|
rs2129640514
|
|
NM_003070.5(SMARCA2):c.3988G>A (p.Glu1330Lys)
|
|
|
NM_003070.5(SMARCA2):c.4045C>G (p.Arg1349Gly)
|
|
|
NM_003070.5(SMARCA2):c.4067C>T (p.Pro1356Leu)
|
|
|
NM_003070.5(SMARCA2):c.4103G>A (p.Arg1368Lys)
|
rs1825693531
|
|
NM_003070.5(SMARCA2):c.413T>C (p.Met138Thr)
|
rs1316822781
|
|
NM_003070.5(SMARCA2):c.4147C>A (p.Leu1383Met)
|
|
|
NM_003070.5(SMARCA2):c.4148T>C (p.Leu1383Pro)
|
|
|
NM_003070.5(SMARCA2):c.4157_4166del (p.Gln1386fs)
|
rs2129641411
|
|
NM_003070.5(SMARCA2):c.4196A>G (p.Asp1399Gly)
|
|
|
NM_003070.5(SMARCA2):c.4199+8_4199+9delinsAG
|
|
|
NM_003070.5(SMARCA2):c.4212G>T (p.Glu1404Asp)
|
rs2129725271
|
|
NM_003070.5(SMARCA2):c.4234T>C (p.Leu1412=)
|
|
|
NM_003070.5(SMARCA2):c.4237G>A (p.Glu1413Lys)
|
|
|
NM_003070.5(SMARCA2):c.4243G>A (p.Glu1415Lys)
|
|
|
NM_003070.5(SMARCA2):c.4253+3C>T
|
rs1826189320
|
|
NM_003070.5(SMARCA2):c.4254-3C>T
|
rs2129875725
|
|
NM_003070.5(SMARCA2):c.4275A>G (p.Glu1425=)
|
rs1309967815
|
|
NM_003070.5(SMARCA2):c.4281_4296dup (p.Arg1433fs)
|
|
|
NM_003070.5(SMARCA2):c.4283_4286del (p.Ile1428fs)
|
rs2129876075
|
|
NM_003070.5(SMARCA2):c.4286A>G (p.Gln1429Arg)
|
|
|
NM_003070.5(SMARCA2):c.4294_4330dup (p.Arg1444delinsIleLysGluArgIleThrArgIleLeuTer)
|
|
|
NM_003070.5(SMARCA2):c.4300A>G (p.Lys1434Glu)
|
|
|
NM_003070.5(SMARCA2):c.4359+5A>G
|
|
|
NM_003070.5(SMARCA2):c.4359+6T>C
|
|
|
NM_003070.5(SMARCA2):c.4364G>C (p.Arg1455Thr)
|
rs1057519094
|
|
NM_003070.5(SMARCA2):c.4366A>G (p.Ile1456Val)
|
|
|
NM_003070.5(SMARCA2):c.4370G>A (p.Arg1457His)
|
rs1264921290
|
|
NM_003070.5(SMARCA2):c.4377T>A (p.His1459Gln)
|
|
|
NM_003070.5(SMARCA2):c.4381T>C (p.Tyr1461His)
|
|
|
NM_003070.5(SMARCA2):c.4384C>G (p.Arg1462Gly)
|
|
|
NM_003070.5(SMARCA2):c.4471G>C (p.Asp1491His)
|
|
|
NM_003070.5(SMARCA2):c.4488G>C (p.Gln1496His)
|
|
|
NM_003070.5(SMARCA2):c.4528G>C (p.Glu1510Gln)
|
rs2129941206
|
|
NM_003070.5(SMARCA2):c.4540G>C (p.Asp1514His)
|
|
|
NM_003070.5(SMARCA2):c.4548_4556dup (p.Glu1518_Glu1519insAspAsnGlu)
|
|
|
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.4560GGAAGA[3] (p.Glu1523_Asp1524insGluGlu)
|
|
|
NM_003070.5(SMARCA2):c.4572_4577del (p.Asp1524_Glu1525del)
|
rs1229249653
|
|
NM_003070.5(SMARCA2):c.4575AGA[1] (p.Glu1527del)
|
|
|
NM_003070.5(SMARCA2):c.4583C>T (p.Ser1528Leu)
|
|
|
NM_003070.5(SMARCA2):c.4585G>C (p.Glu1529Gln)
|
|
|
NM_003070.5(SMARCA2):c.4591G>A (p.Glu1531Lys)
|
|
|
NM_003070.5(SMARCA2):c.4595-11T>A
|
rs2130003508
|
|
NM_003070.5(SMARCA2):c.4600T>A (p.Ser1534Thr)
|
|
|
NM_003070.5(SMARCA2):c.4607A>C (p.Lys1536Thr)
|
|
|
NM_003070.5(SMARCA2):c.4634A>T (p.Asp1545Val)
|
rs1827864772
|
|
NM_003070.5(SMARCA2):c.463G>T (p.Ala155Ser)
|
|
|
NM_003070.5(SMARCA2):c.4644_4655del (p.Arg1549_Gly1552del)
|
|
|
NM_003070.5(SMARCA2):c.4663_4672del (p.Lys1555fs)
|
|
|
NM_003070.5(SMARCA2):c.4696G>C (p.Val1566Leu)
|
rs1827870545
|
|
NM_003070.5(SMARCA2):c.4712A>G (p.Asp1571Gly)
|
|
|
NM_003070.5(SMARCA2):c.472C>T (p.Pro158Ser)
|
|
|
NM_003070.5(SMARCA2):c.4735C>T (p.Arg1579Cys)
|
|
|
NM_003070.5(SMARCA2):c.4738-7C>T
|
rs1554646789
|
|
NM_003070.5(SMARCA2):c.4750G>T (p.Gly1584Ter)
|
|
|
NM_003070.5(SMARCA2):c.475G>C (p.Gly159Arg)
|
|
|
NM_003070.5(SMARCA2):c.497A>G (p.Gln166Arg)
|
rs1042651235
|
|
NM_003070.5(SMARCA2):c.508G>C (p.Gly170Arg)
|
rs2130246879
|
|
NM_003070.5(SMARCA2):c.53G>A (p.Gly18Glu)
|
|
|
NM_003070.5(SMARCA2):c.583G>C (p.Gly195Arg)
|
rs1201596045
|
|
NM_003070.5(SMARCA2):c.655C>T (p.Gln219Ter)
|
|
|
NM_003070.5(SMARCA2):c.669GCA[6] (p.Gln232_Gln238del)
|
rs113070757
|
|
NM_003070.5(SMARCA2):c.669GCA[7] (p.Gln233_Gln238del)
|
rs113070757
|
|
NM_003070.5(SMARCA2):c.669GCA[9] (p.Gln235_Gln238del)
|
rs113070757
|
|
NM_003070.5(SMARCA2):c.669delinsACAGCAGCAGCAA (p.Gln238_Pro239insGlnGlnGlnGln)
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NM_003070.5(SMARCA2):c.677_678insACAGCA (p.Gln238_Pro239insGlnGln)
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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.686_715del (p.Gln229_Gln238del)
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NM_003070.5(SMARCA2):c.723_734dup (p.Gln245_Pro246insGlnProProGln)
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NM_003070.5(SMARCA2):c.750ACA[1] (p.Gln253del)
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NM_003070.5(SMARCA2):c.751C>A (p.Gln251Lys)
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NM_003070.5(SMARCA2):c.77T>C (p.Ile26Thr)
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NM_003070.5(SMARCA2):c.782G>C (p.Arg261Thr)
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NM_003070.5(SMARCA2):c.811G>C (p.Gly271Arg)
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NM_003070.5(SMARCA2):c.815C>T (p.Pro272Leu)
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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.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.879_896del (p.Gln296_Ala301del)
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NM_003070.5(SMARCA2):c.885_902del (p.Gln296_Ala301del)
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NM_003070.5(SMARCA2):c.910G>T (p.Gly304Trp)
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NM_003070.5(SMARCA2):c.913C>T (p.Pro305Ser)
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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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