NC_000019.10:g.(?_11018947)_(11030903_?)del
|
|
|
NC_000019.10:g.(?_11018951)_(11030899_?)del
|
|
|
NC_000019.9:g.(?_11094822)_(11172498_?)del
|
|
|
NC_000019.9:g.(?_11094828)_(11114083_?)del
|
|
|
NC_000019.9:g.(?_11094828)_(11129709_?)del
|
|
|
NC_000019.9:g.(?_11094828)_(11152246_?)del
|
|
|
NC_000019.9:g.(?_11094828)_(11172492_?)del
|
|
|
NC_000019.9:g.(?_11098332)_(11105687_?)del
|
|
|
NC_000019.9:g.(?_11099983)_(11102009_?)del
|
|
|
NC_000019.9:g.(?_11101816)_(11152246_?)del
|
|
|
NC_000019.9:g.(?_11118568)_(11118709_?)del
|
|
|
NC_000019.9:g.(?_11121047)_(11136194_?)del
|
|
|
NM_001128849.1(SMARCA4):c.3874delG
|
|
|
NM_003072.5(SMARCA4):c.1020_1053dup (p.Ile352fs)
|
|
|
NM_003072.5(SMARCA4):c.1066C>T (p.Gln356Ter)
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|
|
NM_003072.5(SMARCA4):c.1123C>T (p.Gln375Ter)
|
|
|
NM_003072.5(SMARCA4):c.1141C>T (p.Arg381Ter)
|
rs972341316
|
|
NM_003072.5(SMARCA4):c.1155_1157del (p.Glu386del)
|
rs1555756326
|
|
NM_003072.5(SMARCA4):c.1177del (p.Ala393fs)
|
rs2145848353
|
|
NM_003072.5(SMARCA4):c.1183del (p.Asp395fs)
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|
|
NM_003072.5(SMARCA4):c.1189C>T (p.Arg397Ter)
|
rs1295192121
|
|
NM_003072.5(SMARCA4):c.1243C>T (p.Gln415Ter)
|
rs2086356894
|
|
NM_003072.5(SMARCA4):c.1351C>T (p.Arg451Cys)
|
rs2086534839
|
|
NM_003072.5(SMARCA4):c.1378C>T (p.Gln460Ter)
|
rs1490850743
|
|
NM_003072.5(SMARCA4):c.1408C>T (p.Gln470Ter)
|
rs1555757738
|
|
NM_003072.5(SMARCA4):c.1472_1473insGCAAA (p.Ser492fs)
|
rs2145938835
|
|
NM_003072.5(SMARCA4):c.1489dup (p.Ile497fs)
|
rs1600068013
|
|
NM_003072.5(SMARCA4):c.1543C>T (p.Gln515Ter)
|
rs2086887013
|
|
NM_003072.5(SMARCA4):c.1554_1555del (p.Asn519fs)
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|
|
NM_003072.5(SMARCA4):c.1567G>T (p.Glu523Ter)
|
rs2086888561
|
|
NM_003072.5(SMARCA4):c.1633AAG[1] (p.Lys546del)
|
rs876657378
|
|
NM_003072.5(SMARCA4):c.1645C>T (p.Arg549Cys)
|
rs2087030906
|
|
NM_003072.5(SMARCA4):c.1645del (p.Arg549fs)
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|
|
NM_003072.5(SMARCA4):c.1649del (p.Leu550fs)
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|
|
NM_003072.5(SMARCA4):c.1666C>T (p.Gln556Ter)
|
rs1555763642
|
|
NM_003072.5(SMARCA4):c.1675G>A (p.Glu559Lys)
|
rs1600082188
|
|
NM_003072.5(SMARCA4):c.1680C>G (p.Tyr560Ter)
|
rs375507937
|
|
NM_003072.5(SMARCA4):c.1681del (p.Val561fs)
|
rs2087033635
|
|
NM_003072.5(SMARCA4):c.1717del (p.Ala573fs)
|
|
|
NM_003072.5(SMARCA4):c.1754_1757del (p.Lys585fs)
|
rs1555763780
|
|
NM_003072.5(SMARCA4):c.1757_1760del (p.Lys586fs)
|
rs1342399494
|
|
NM_003072.5(SMARCA4):c.1823del (p.Glu608fs)
|
|
|
NM_003072.5(SMARCA4):c.1831C>T (p.Gln611Ter)
|
rs1568455217
|
|
NM_003072.5(SMARCA4):c.1892dup (p.Asp632fs)
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|
|
NM_003072.5(SMARCA4):c.1911dup (p.Gln638fs)
|
|
|
NM_003072.5(SMARCA4):c.1958del (p.Pro653fs)
|
|
|
NM_003072.5(SMARCA4):c.1996G>T (p.Glu666Ter)
|
|
|
NM_003072.5(SMARCA4):c.2032C>T (p.Gln678Ter)
|
rs1555771571
|
|
NM_003072.5(SMARCA4):c.2111_2115del (p.Arg704fs)
|
rs2146193795
|
|
NM_003072.5(SMARCA4):c.2149G>T (p.Glu717Ter)
|
rs2146234214
|
|
NM_003072.5(SMARCA4):c.2156G>A (p.Gly719Asp)
|
rs2088712889
|
|
NM_003072.5(SMARCA4):c.2164C>T (p.Gln722Ter)
|
rs1555773269
|
|
NM_003072.5(SMARCA4):c.2236_2239del (p.Ser746fs)
|
|
|
NM_003072.5(SMARCA4):c.2266C>T (p.Gln756Ter)
|
|
|
NM_003072.5(SMARCA4):c.2287G>T (p.Glu763Ter)
|
rs1555774631
|
|
NM_003072.5(SMARCA4):c.2291G>A (p.Trp764Ter)
|
|
|
NM_003072.5(SMARCA4):c.2292G>A (p.Trp764Ter)
|
rs2088999811
|
|
NM_003072.5(SMARCA4):c.229G>T (p.Glu77Ter)
|
rs1568419675
|
|
NM_003072.5(SMARCA4):c.2329del (p.Leu777fs)
|
rs1555774702
|
|
NM_003072.5(SMARCA4):c.2348T>C (p.Leu783Pro)
|
rs869312964
|
|
NM_003072.5(SMARCA4):c.2475G>T (p.Trp825Cys)
|
rs2146360458
|
|
NM_003072.5(SMARCA4):c.2527del (p.Ala843fs)
|
rs2146373508
|
|
NM_003072.5(SMARCA4):c.2576C>T (p.Thr859Met)
|
rs281875226
|
|
NM_003072.5(SMARCA4):c.2617-3C>G
|
rs587777463
|
|
NM_003072.5(SMARCA4):c.2625del (p.Arg874_Trp875insTer)
|
|
|
NM_003072.5(SMARCA4):c.2653C>T (p.Arg885Cys)
|
rs281875227
|
|
NM_003072.5(SMARCA4):c.2654G>A (p.Arg885His)
|
rs1064794284
|
|
NM_003072.5(SMARCA4):c.2683C>T (p.Gln895Ter)
|
rs2146417384
|
|
NM_003072.5(SMARCA4):c.274del (p.Gln92fs)
|
|
|
NM_003072.5(SMARCA4):c.2761C>T (p.Leu921Phe)
|
rs281875228
|
|
NM_003072.5(SMARCA4):c.2766G>A (p.Trp922Ter)
|
|
|
NM_003072.5(SMARCA4):c.2780del (p.Phe927fs)
|
rs2146421085
|
|
NM_003072.5(SMARCA4):c.2825G>A (p.Trp942Ter)
|
rs2146422618
|
|
NM_003072.5(SMARCA4):c.2826G>A (p.Trp942Ter)
|
rs2146422656
|
|
NM_003072.5(SMARCA4):c.2828T>G (p.Phe943Cys)
|
rs1555778828
|
|
NM_003072.5(SMARCA4):c.2838del (p.Phe947fs)
|
rs2146423140
|
|
NM_003072.5(SMARCA4):c.2851G>A (p.Gly951Arg)
|
rs1060499936
|
|
NM_003072.5(SMARCA4):c.2854_2855delinsC (p.Glu952fs)
|
|
|
NM_003072.5(SMARCA4):c.2922del (p.Phe975fs)
|
rs797045980
|
|
NM_003072.5(SMARCA4):c.2932C>T (p.Arg978Ter)
|
rs1064796254
|
|
NM_003072.5(SMARCA4):c.2933G>A (p.Arg978Gln)
|
rs1180804356
|
|
NM_003072.5(SMARCA4):c.2935C>T (p.Arg979Ter)
|
rs769308802
|
|
NM_003072.5(SMARCA4):c.2936G>A (p.Arg979Gln)
|
|
|
NM_003072.5(SMARCA4):c.2953G>A (p.Glu985Lys)
|
|
|
NM_003072.5(SMARCA4):c.2959C>T (p.Gln987Ter)
|
|
|
NM_003072.5(SMARCA4):c.3000del (p.Met1000fs)
|
rs1600300837
|
|
NM_003072.5(SMARCA4):c.300_301del (p.Gly102fs)
|
rs780424104
|
|
NM_003072.5(SMARCA4):c.300del (p.Gly102fs)
|
rs1599941421
|
|
NM_003072.5(SMARCA4):c.3010C>T (p.Gln1004Ter)
|
|
|
NM_003072.5(SMARCA4):c.3013C>T (p.Arg1005Ter)
|
rs2146473376
|
|
NM_003072.5(SMARCA4):c.3032T>C (p.Met1011Thr)
|
rs281875229
|
|
NM_003072.5(SMARCA4):c.3033dup (p.Gln1012fs)
|
rs2090100956
|
|
NM_003072.5(SMARCA4):c.3034C>T (p.Gln1012Ter)
|
|
|
NM_003072.5(SMARCA4):c.3127C>T (p.Arg1043Trp)
|
rs770014321
|
|
NM_003072.5(SMARCA4):c.3129del (p.Lys1044fs)
|
rs2146497558
|
|
NM_003072.5(SMARCA4):c.3150C>A (p.Tyr1050Ter)
|
|
|
NM_003072.5(SMARCA4):c.3168+2T>C
|
rs1489795776
|
|
NM_003072.5(SMARCA4):c.3169G>T (p.Glu1057Ter)
|
rs1555781050
|
|
NM_003072.5(SMARCA4):c.3211dup (p.Gln1071fs)
|
rs2146516794
|
|
NM_003072.5(SMARCA4):c.3213del (p.Leu1073fs)
|
|
|
NM_003072.5(SMARCA4):c.3228C>G (p.Tyr1076Ter)
|
rs2146541525
|
|
NM_003072.5(SMARCA4):c.3229C>T (p.Arg1077Ter)
|
rs2146541571
|
|
NM_003072.5(SMARCA4):c.3239G>A (p.Gly1080Asp)
|
rs587777464
|
|
NM_003072.5(SMARCA4):c.3267del (p.Lys1091fs)
|
|
|
NM_003072.5(SMARCA4):c.3277C>T (p.Arg1093Ter)
|
rs1600335765
|
|
NM_003072.5(SMARCA4):c.3355C>T (p.Arg1119Cys)
|
rs2090378511
|
|
NM_003072.5(SMARCA4):c.336dup (p.Met113fs)
|
rs2145752321
|
|
NM_003072.5(SMARCA4):c.33_51del (p.Pro12fs)
|
|
|
NM_003072.5(SMARCA4):c.343C>T (p.Gln115Ter)
|
rs2145752709
|
|
NM_003072.5(SMARCA4):c.3469C>G (p.Arg1157Gly)
|
rs281875230
|
|
NM_003072.5(SMARCA4):c.3480dup (p.Leu1161fs)
|
rs797045982
|
|
NM_003072.5(SMARCA4):c.3496C>T (p.Gln1166Ter)
|
rs1600365455
|
|
NM_003072.5(SMARCA4):c.3512_3513del (p.Val1171fs)
|
|
|
NM_003072.5(SMARCA4):c.3533G>A (p.Trp1178Ter)
|
rs587777460
|
|
NM_003072.5(SMARCA4):c.3547-1G>A
|
rs2146647668
|
|
NM_003072.5(SMARCA4):c.3556G>A (p.Ala1186Thr)
|
rs1085307556
|
|
NM_003072.5(SMARCA4):c.3557C>T (p.Ala1186Val)
|
rs1600388982
|
|
NM_003072.5(SMARCA4):c.3559C>T (p.Gln1187Ter)
|
rs1600389034
|
|
NM_003072.5(SMARCA4):c.3565C>T (p.Arg1189Ter)
|
rs267607070
|
|
NM_003072.5(SMARCA4):c.3603dup (p.Leu1202fs)
|
|
|
NM_003072.5(SMARCA4):c.3607C>T (p.Arg1203Cys)
|
|
|
NM_003072.5(SMARCA4):c.3608G>A (p.Arg1203His)
|
rs770680174
|
|
NM_003072.5(SMARCA4):c.365C>A (p.Ser122Ter)
|
rs1555752859
|
|
NM_003072.5(SMARCA4):c.3725del (p.Glu1242fs)
|
|
|
NM_003072.5(SMARCA4):c.3809_3825dup (p.Pro1276fs)
|
rs2075088671
|
|
NM_003072.5(SMARCA4):c.3827del (p.Pro1276fs)
|
rs2146666663
|
|
NM_003072.5(SMARCA4):c.3910C>T (p.Gln1304Ter)
|
rs2146678594
|
|
NM_003072.5(SMARCA4):c.3980_3981del (p.Glu1327fs)
|
|
|
NM_003072.5(SMARCA4):c.4004del (p.Pro1335fs)
|
|
|
NM_003072.5(SMARCA4):c.4038G>A (p.Trp1346Ter)
|
|
|
NM_003072.5(SMARCA4):c.4077T>A (p.Cys1359Ter)
|
rs2146700981
|
|
NM_003072.5(SMARCA4):c.4126dup (p.Glu1376fs)
|
|
|
NM_003072.5(SMARCA4):c.4145C>A (p.Ser1382Ter)
|
|
|
NM_003072.5(SMARCA4):c.4153del (p.Glu1385fs)
|
rs1600407324
|
|
NM_003072.5(SMARCA4):c.4170+1G>A
|
rs587777461
|
|
NM_003072.5(SMARCA4):c.4171-1789C>T
|
rs2075455200
|
|
NM_003072.5(SMARCA4):c.4243C>T (p.Arg1415Ter)
|
rs878854224
|
|
NM_003072.5(SMARCA4):c.4345G>T (p.Glu1449Ter)
|
|
|
NM_003072.5(SMARCA4):c.4459C>T (p.Gln1487Ter)
|
|
|
NM_003072.5(SMARCA4):c.4465_4466insT (p.Pro1489fs)
|
|
|
NM_003072.5(SMARCA4):c.4471C>T (p.Arg1491Ter)
|
rs758517117
|
|
NM_003072.5(SMARCA4):c.4477G>T (p.Glu1493Ter)
|
|
|
NM_003072.5(SMARCA4):c.4494C>G (p.Tyr1498Ter)
|
|
|
NM_003072.5(SMARCA4):c.4526del (p.Lys1509fs)
|
rs1555795091
|
|
NM_003072.5(SMARCA4):c.4579A>T (p.Lys1527Ter)
|
|
|
NM_003072.5(SMARCA4):c.4600C>T (p.Gln1534Ter)
|
rs2076695154
|
|
NM_003072.5(SMARCA4):c.4660C>T (p.Gln1554Ter)
|
rs1555795884
|
|
NM_003072.5(SMARCA4):c.4667del (p.Val1556fs)
|
rs797045987
|
|
NM_003072.5(SMARCA4):c.4684C>T (p.Gln1562Ter)
|
|
|
NM_003072.5(SMARCA4):c.4738G>T (p.Glu1580Ter)
|
rs1600644640
|
|
NM_003072.5(SMARCA4):c.478del (p.Gln160fs)
|
|
|
NM_003072.5(SMARCA4):c.490C>T (p.Gln164Ter)
|
rs2145775805
|
|
NM_003072.5(SMARCA4):c.493C>T (p.Gln165Ter)
|
rs1568422286
|
|
NM_003072.5(SMARCA4):c.561C>G (p.Tyr187Ter)
|
rs1305866080
|
|
NM_003072.5(SMARCA4):c.574del (p.Arg192fs)
|
rs2145779070
|
|
NM_003072.5(SMARCA4):c.579del (p.Gln194fs)
|
|
|
NM_003072.5(SMARCA4):c.643C>T (p.Gln215Ter)
|
rs587777462
|
|
NM_003072.5(SMARCA4):c.657_661del (p.Leu220fs)
|
|
|
NM_003072.5(SMARCA4):c.662del (p.Pro221fs)
|
rs1060502085
|
|
NM_003072.5(SMARCA4):c.671_696del (p.Ser224fs)
|
|
|
NM_003072.5(SMARCA4):c.747C>A (p.Tyr249Ter)
|
|
|
NM_003072.5(SMARCA4):c.788del (p.Pro263fs)
|
|
|
NM_003072.5(SMARCA4):c.788dup (p.Gly264fs)
|
rs1555754177
|
|
NM_003072.5(SMARCA4):c.810del (p.Met272fs)
|
|
|
NM_003072.5(SMARCA4):c.810dup (p.Gly271fs)
|
|
|
NM_003072.5(SMARCA4):c.823C>T (p.Gln275Ter)
|
rs1555754293
|
|
NM_003072.5(SMARCA4):c.826_827del (p.Pro276fs)
|
|
|
NM_003072.5(SMARCA4):c.868del (p.Ala290fs)
|
|
|
NM_003072.5(SMARCA4):c.870del (p.Asn291fs)
|
|
|
NM_003072.5(SMARCA4):c.885del (p.Thr296fs)
|
|
|
NM_003072.5(SMARCA4):c.916C>T (p.Gln306Ter)
|
rs2086182638
|
|
NM_003072.5(SMARCA4):c.917_941del (p.Gln306fs)
|
rs2145815261
|
|
NM_003072.5(SMARCA4):c.947del (p.Pro316fs)
|
|
|
NM_003072.5(SMARCA4):c.982_986del (p.Pro328fs)
|
rs1555755067
|
|