NM_001374828.1(ARID1B):c.5851G>A (p.Glu1951Lys)
|
rs1451259945
|
0.00004
|
NM_003072.5(SMARCA4):c.3922C>T (p.Arg1308Trp)
|
rs587779750
|
0.00001
|
GRCh38/hg38 6q25.3(chr6:157179172-157184916)x1
|
|
|
NM_001374828.1(ARID1B):c.1293_1317del (p.Ala433fs)
|
rs1778944605
|
|
NM_001374828.1(ARID1B):c.1293_1320dup (p.Tyr441fs)
|
|
|
NM_001374828.1(ARID1B):c.1462_1466del (p.Phe488fs)
|
|
|
NM_001374828.1(ARID1B):c.1629_1647del (p.Gly544fs)
|
rs1779004027
|
|
NM_001374828.1(ARID1B):c.1789C>T (p.Gln597Ter)
|
rs1779032666
|
|
NM_001374828.1(ARID1B):c.1811del (p.Met604fs)
|
|
|
NM_001374828.1(ARID1B):c.1853dup (p.His619fs)
|
|
|
NM_001374828.1(ARID1B):c.1987-29742G>A
|
rs1554261846
|
|
NM_001374828.1(ARID1B):c.2025C>G (p.Tyr675Ter)
|
rs773640553
|
|
NM_001374828.1(ARID1B):c.2046del (p.Tyr683fs)
|
rs1582908829
|
|
NM_001374828.1(ARID1B):c.2073dup (p.His692fs)
|
rs2128210922
|
|
NM_001374828.1(ARID1B):c.2078del (p.Leu693fs)
|
rs2128210949
|
|
NM_001374828.1(ARID1B):c.2379_2398del (p.His793fs)
|
rs1583280025
|
|
NM_001374828.1(ARID1B):c.2480C>T (p.Ala827Val)
|
|
|
NM_001374828.1(ARID1B):c.2491G>C (p.Gly831Arg)
|
|
|
NM_001374828.1(ARID1B):c.2581G>A (p.Gly861Ser)
|
rs1057518045
|
|
NM_001374828.1(ARID1B):c.2582-2A>C
|
rs1057524160
|
|
NM_001374828.1(ARID1B):c.2603_2606del (p.Arg868fs)
|
rs1085307695
|
|
NM_001374828.1(ARID1B):c.266G>A (p.Gly89Asp)
|
rs1057518648
|
|
NM_001374828.1(ARID1B):c.2714del (p.Asn905fs)
|
|
|
NM_001374828.1(ARID1B):c.2742_2750delinsAC (p.Met914fs)
|
|
|
NM_001374828.1(ARID1B):c.2762-3_2762-2delinsAG
|
|
|
NM_001374828.1(ARID1B):c.2912C>A (p.Ser971Ter)
|
|
|
NM_001374828.1(ARID1B):c.2956del (p.Ser985_Met986insTer)
|
rs2128634579
|
|
NM_001374828.1(ARID1B):c.3287del (p.Leu1096fs)
|
rs1583451146
|
|
NM_001374828.1(ARID1B):c.3306_3310del (p.Lys1103fs)
|
rs1131692263
|
|
NM_001374828.1(ARID1B):c.3581_3602del (p.Leu1194fs)
|
rs1792478147
|
|
NM_001374828.1(ARID1B):c.3589G>A (p.Asp1197Asn)
|
|
|
NM_001374828.1(ARID1B):c.3664dup (p.Asp1222fs)
|
rs2128317569
|
|
NM_001374828.1(ARID1B):c.3721A>T (p.Lys1241Ter)
|
|
|
NM_001374828.1(ARID1B):c.3770C>G (p.Ser1257Ter)
|
rs1583469292
|
|
NM_001374828.1(ARID1B):c.3827_3828del (p.Glu1276fs)
|
rs2128325428
|
|
NM_001374828.1(ARID1B):c.3933del (p.Leu1312fs)
|
|
|
NM_001374828.1(ARID1B):c.3955dup (p.Gln1319fs)
|
rs1289067120
|
|
NM_001374828.1(ARID1B):c.4232-1G>A
|
|
|
NM_001374828.1(ARID1B):c.4342C>T (p.Gln1448Ter)
|
rs1554234402
|
|
NM_001374828.1(ARID1B):c.4479G>A (p.Pro1493=)
|
rs797045277
|
|
NM_001374828.1(ARID1B):c.4557C>A (p.Tyr1519Ter)
|
|
|
NM_001374828.1(ARID1B):c.4557C>G (p.Tyr1519Ter)
|
rs1794042593
|
|
NM_001374828.1(ARID1B):c.4638C>G (p.Tyr1546Ter)
|
|
|
NM_001374828.1(ARID1B):c.4647del (p.Tyr1550fs)
|
|
|
NM_001374828.1(ARID1B):c.4705C>T (p.Gln1569Ter)
|
rs797045278
|
|
NM_001374828.1(ARID1B):c.4770_4771dup (p.Arg1591fs)
|
|
|
NM_001374828.1(ARID1B):c.4808del (p.Gly1603fs)
|
rs2128374043
|
|
NM_001374828.1(ARID1B):c.4825C>T (p.Gln1609Ter)
|
rs1064793482
|
|
NM_001374828.1(ARID1B):c.5047C>T (p.Gln1683Ter)
|
|
|
NM_001374828.1(ARID1B):c.5224del (p.Val1742fs)
|
rs1583502875
|
|
NM_001374828.1(ARID1B):c.5264-2A>G
|
rs1794274425
|
|
NM_001374828.1(ARID1B):c.5394+3A>C
|
rs1794283740
|
|
NM_001374828.1(ARID1B):c.5395-1G>A
|
|
|
NM_001374828.1(ARID1B):c.5395-2A>C
|
rs1562350940
|
|
NM_001374828.1(ARID1B):c.5399del (p.Ser1800fs)
|
|
|
NM_001374828.1(ARID1B):c.5402del (p.Gly1801fs)
|
rs2128391037
|
|
NM_001374828.1(ARID1B):c.5417dup (p.Leu1806fs)
|
|
|
NM_001374828.1(ARID1B):c.5615_5616dup (p.Glu1873fs)
|
rs2128392250
|
|
NM_001374828.1(ARID1B):c.5635G>T (p.Glu1879Ter)
|
rs1794456297
|
|
NM_001374828.1(ARID1B):c.5719_5722del (p.Phe1907fs)
|
|
|
NM_001374828.1(ARID1B):c.5763_5766del (p.Phe1921fs)
|
rs1554237269
|
|
NM_001374828.1(ARID1B):c.5825G>A (p.Trp1942Ter)
|
|
|
NM_001374828.1(ARID1B):c.5851G>T (p.Glu1951Ter)
|
rs1451259945
|
|
NM_001374828.1(ARID1B):c.5896C>T (p.Arg1966Cys)
|
rs1369594791
|
|
NM_001374828.1(ARID1B):c.5903del (p.Arg1968fs)
|
rs2128393700
|
|
NM_001374828.1(ARID1B):c.6028del (p.Ala2010fs)
|
rs1794490994
|
|
NM_001374828.1(ARID1B):c.6072dup (p.Lys2025Ter)
|
rs886041878
|
|
NM_001374828.1(ARID1B):c.6103del (p.Ser2035fs)
|
|
|
NM_001374828.1(ARID1B):c.612_613insGCAGCAG (p.Gln205fs)
|
|
|
NM_001374828.1(ARID1B):c.6161dup (p.Cys2055fs)
|
|
|
NM_001374828.1(ARID1B):c.6224T>G (p.Val2075Gly)
|
|
|
NM_001374828.1(ARID1B):c.6263T>C (p.Met2088Thr)
|
rs1583516082
|
|
NM_001374828.1(ARID1B):c.6286del (p.Val2095_Leu2096insTer)
|
|
|
NM_001374828.1(ARID1B):c.6359_6360del (p.Lys2120fs)
|
|
|
NM_001374828.1(ARID1B):c.6407G>A (p.Trp2136Ter)
|
|
|
NM_001374828.1(ARID1B):c.6617T>C (p.Leu2206Pro)
|
rs1794550318
|
|
NM_001374828.1(ARID1B):c.6619G>T (p.Glu2207Ter)
|
|
|
NM_001374828.1(ARID1B):c.6842del (p.Asn2281fs)
|
rs1562354784
|
|
NM_001374828.1(ARID1B):c.6873dup (p.Met2292fs)
|
rs2128398868
|
|
NM_001374828.1(ARID1B):c.6895C>T (p.Gln2299Ter)
|
rs758120346
|
|
NM_001374828.1(ARID1B):c.7069_7070del (p.Leu2357fs)
|
rs1794584714
|
|
NM_003072.5(SMARCA4):c.1351C>T (p.Arg451Cys)
|
rs2086534839
|
|
NM_003072.5(SMARCA4):c.1352G>T (p.Arg451Leu)
|
|
|
NM_003072.5(SMARCA4):c.1427T>G (p.Leu476Arg)
|
rs2145937134
|
|
NM_003072.5(SMARCA4):c.1462G>A (p.Glu488Lys)
|
rs2145938426
|
|
NM_003072.5(SMARCA4):c.1646G>T (p.Arg549Leu)
|
rs2145970607
|
|
NM_003072.5(SMARCA4):c.1947_2001+3del
|
|
|
NM_003072.5(SMARCA4):c.2453G>A (p.Trp818Ter)
|
rs2146359668
|
|
NM_003072.5(SMARCA4):c.2506-2A>G
|
|
|
NM_003072.5(SMARCA4):c.2525G>A (p.Arg842Gln)
|
rs2146373452
|
|
NM_003072.5(SMARCA4):c.2647G>A (p.Gly883Ser)
|
rs1568486679
|
|
NM_003072.5(SMARCA4):c.2653C>T (p.Arg885Cys)
|
rs281875227
|
|
NM_003072.5(SMARCA4):c.2656A>G (p.Met886Val)
|
rs2146416371
|
|
NM_003072.5(SMARCA4):c.2678T>G (p.Leu893Arg)
|
|
|
NM_003072.5(SMARCA4):c.2704G>A (p.Val902Met)
|
rs1600278307
|
|
NM_003072.5(SMARCA4):c.2738C>T (p.Pro913Leu)
|
rs778175819
|
|
NM_003072.5(SMARCA4):c.2747A>G (p.Asn916Ser)
|
rs2146419846
|
|
NM_003072.5(SMARCA4):c.2777A>G (p.Asn926Ser)
|
rs1555778797
|
|
NM_003072.5(SMARCA4):c.2851G>A (p.Gly951Arg)
|
rs1060499936
|
|
NM_003072.5(SMARCA4):c.2936G>A (p.Arg979Gln)
|
|
|
NM_003072.5(SMARCA4):c.3068A>G (p.Glu1023Gly)
|
|
|
NM_003072.5(SMARCA4):c.3127C>T (p.Arg1043Trp)
|
rs770014321
|
|
NM_003072.5(SMARCA4):c.3139A>C (p.Asn1047His)
|
rs2146497910
|
|
NM_003072.5(SMARCA4):c.3476G>C (p.Gly1159Ala)
|
rs2146600868
|
|
NM_003072.5(SMARCA4):c.3557C>T (p.Ala1186Val)
|
rs1600388982
|
|
NM_003072.5(SMARCA4):c.3608G>A (p.Arg1203His)
|
rs770680174
|
|
NM_003072.5(SMARCA4):c.3712T>G (p.Ser1238Ala)
|
|
|
NM_003072.5(SMARCA4):c.3730C>T (p.Arg1244Cys)
|
rs2146654092
|
|
NM_003072.5(SMARCA4):c.3734C>G (p.Ala1245Gly)
|
rs797045984
|
|
NM_003072.5(SMARCA4):c.3818A>G (p.His1273Arg)
|
rs1600393629
|
|
NM_003072.5(SMARCA4):c.4213C>T (p.Arg1405Trp)
|
rs1057518049
|
|
NM_003073.5(SMARCB1):c.1070C>G (p.Thr357Arg)
|
rs1555881567
|
|
NM_003073.5(SMARCB1):c.1084_1086del (p.Glu362del)
|
rs2146042583
|
|
NM_003073.5(SMARCB1):c.1087A>G (p.Lys363Glu)
|
rs797045989
|
|
NM_003073.5(SMARCB1):c.1089G>T (p.Lys363Asn)
|
rs1568963037
|
|
NM_003073.5(SMARCB1):c.1096C>G (p.Arg366Gly)
|
rs886039520
|
|
NM_003073.5(SMARCB1):c.1096C>T (p.Arg366Cys)
|
rs886039520
|
|
NM_003073.5(SMARCB1):c.110G>A (p.Arg37His)
|
rs398122368
|
|
NM_003073.5(SMARCB1):c.1120C>T (p.Arg374Trp)
|
rs1568963596
|
|
NM_003073.5(SMARCB1):c.1121G>A (p.Arg374Gln)
|
rs1057517825
|
|
NM_003073.5(SMARCB1):c.602G>A (p.Arg201Gln)
|
rs1555877287
|
|
NM_003073.5(SMARCB1):c.812G>A (p.Gly271Glu)
|
rs2030318562
|
|
NM_003079.5(SMARCE1):c.276G>C (p.Lys92Asn)
|
rs1555605795
|
|
NM_003108.4(SOX11):c.1148del (p.Gly383fs)
|
|
|
NM_003108.4(SOX11):c.1216del (p.Ser406fs)
|
rs1572217107
|
|
NM_003108.4(SOX11):c.146T>A (p.Ile49Asn)
|
|
|
NM_003108.4(SOX11):c.146T>G (p.Ile49Ser)
|
|
|
NM_003108.4(SOX11):c.151C>G (p.Arg51Gly)
|
|
|
NM_003108.4(SOX11):c.151C>T (p.Arg51Trp)
|
rs2103276324
|
|
NM_003108.4(SOX11):c.152G>A (p.Arg51Gln)
|
rs2103276330
|
|
NM_003108.4(SOX11):c.152G>T (p.Arg51Leu)
|
|
|
NM_003108.4(SOX11):c.155C>T (p.Pro52Leu)
|
|
|
NM_003108.4(SOX11):c.157A>G (p.Met53Val)
|
|
|
NM_003108.4(SOX11):c.158T>G (p.Met53Arg)
|
|
|
NM_003108.4(SOX11):c.159G>A (p.Met53Ile)
|
|
|
NM_003108.4(SOX11):c.159G>T (p.Met53Ile)
|
|
|
NM_003108.4(SOX11):c.160A>G (p.Asn54Asp)
|
|
|
NM_003108.4(SOX11):c.167T>G (p.Phe56Cys)
|
rs2103276337
|
|
NM_003108.4(SOX11):c.168C>G (p.Phe56Leu)
|
rs2103276338
|
|
NM_003108.4(SOX11):c.170T>C (p.Met57Thr)
|
rs2103276340
|
|
NM_003108.4(SOX11):c.190C>A (p.Arg64Ser)
|
|
|
NM_003108.4(SOX11):c.190C>T (p.Arg64Cys)
|
|
|
NM_003108.4(SOX11):c.191G>C (p.Arg64Pro)
|
|
|
NM_003108.4(SOX11):c.191G>T (p.Arg64Leu)
|
|
|
NM_003108.4(SOX11):c.223C>G (p.His75Asp)
|
|
|
NM_003108.4(SOX11):c.226A>G (p.Asn76Asp)
|
rs1665660543
|
|
NM_003108.4(SOX11):c.239C>T (p.Ser80Phe)
|
rs1553327809
|
|
NM_003108.4(SOX11):c.250G>A (p.Gly84Ser)
|
|
|
NM_003108.4(SOX11):c.259T>C (p.Trp87Arg)
|
|
|
NM_003108.4(SOX11):c.293del (p.Phe98fs)
|
rs1558373252
|
|
NM_003108.4(SOX11):c.299G>C (p.Arg100Pro)
|
rs1064794628
|
|
NM_003108.4(SOX11):c.305C>T (p.Ala102Val)
|
rs1665661372
|
|
NM_003108.4(SOX11):c.317G>C (p.Arg106Pro)
|
|
|
NM_003108.4(SOX11):c.322A>G (p.Lys108Glu)
|
|
|
NM_003108.4(SOX11):c.326A>C (p.His109Pro)
|
|
|
NM_003108.4(SOX11):c.337T>C (p.Tyr113His)
|
|
|
NM_003108.4(SOX11):c.353A>G (p.Tyr118Cys)
|
|
|
NM_003108.4(SOX11):c.359C>A (p.Pro120His)
|
|
|
NM_003108.4(SOX11):c.359C>T (p.Pro120Leu)
|
rs1665662335
|
|
NM_003108.4(SOX11):c.650_651insGA (p.Lys218fs)
|
rs2103276750
|
|
NM_003108.4(SOX11):c.657C>A (p.Cys219Ter)
|
|
|
NM_003108.4(SOX11):c.700G>T (p.Glu234Ter)
|
rs780122780
|
|
NM_003108.4(SOX11):c.820A>T (p.Lys274Ter)
|
|
|
NM_003108.4(SOX11):c.886G>T (p.Glu296Ter)
|
rs1441654871
|
|
NM_006015.6(ARID1A):c.1920+3_1920+6del
|
rs2124792810
|
|
NM_006015.6(ARID1A):c.284del (p.Gly95fs)
|
|
|
NM_006015.6(ARID1A):c.3033G>T (p.Leu1011Phe)
|
rs1553152590
|
|
NM_006015.6(ARID1A):c.3067T>C (p.Trp1023Arg)
|
rs1557612048
|
|
NM_006015.6(ARID1A):c.3067T>G (p.Trp1023Gly)
|
|
|
NM_006015.6(ARID1A):c.3148G>T (p.Asp1050Tyr)
|
rs1570609440
|
|
NM_006015.6(ARID1A):c.3169T>C (p.Ser1057Pro)
|
rs2124087634
|
|
NM_006015.6(ARID1A):c.3198+2dup
|
|
|
NM_006015.6(ARID1A):c.3230C>A (p.Ala1077Glu)
|
rs1030084592
|
|
NM_006015.6(ARID1A):c.3287A>G (p.Tyr1096Cys)
|
|
|
NM_006015.6(ARID1A):c.3898_3899del (p.Met1300fs)
|
|
|
NM_006015.6(ARID1A):c.4049del (p.Ser1350fs)
|
rs2124114899
|
|
NM_006015.6(ARID1A):c.4102-1G>C
|
rs2081113293
|
|
NM_006015.6(ARID1A):c.4860dup (p.Pro1621fs)
|
rs1553153291
|
|
NM_006015.6(ARID1A):c.5138T>C (p.Leu1713Pro)
|
rs797045264
|
|
NM_006015.6(ARID1A):c.5903_5904del (p.Cys1968fs)
|
|
|
NM_006015.6(ARID1A):c.595C>T (p.Gln199Ter)
|
rs2124742621
|
|
NM_006015.6(ARID1A):c.5963T>C (p.Ile1988Thr)
|
rs2081174839
|
|
NM_006015.6(ARID1A):c.5965C>G (p.Arg1989Gly)
|
|
|
NM_006015.6(ARID1A):c.6196A>T (p.Asn2066Tyr)
|
rs1570622663
|
|
NM_006015.6(ARID1A):c.6200T>C (p.Ile2067Thr)
|
|
|
NM_006015.6(ARID1A):c.6232G>A (p.Glu2078Lys)
|
rs869312956
|
|
NM_006015.6(ARID1A):c.6518A>T (p.Asn2173Ile)
|
rs1553153783
|
|
NM_152641.4(ARID2):c.1028T>A (p.Leu343Ter)
|
rs796052242
|
|
NM_152641.4(ARID2):c.109dup (p.Ile37fs)
|
rs2137959601
|
|
NM_152641.4(ARID2):c.1284_1288del (p.Met428fs)
|
rs2138132620
|
|
NM_152641.4(ARID2):c.1716-2A>G
|
rs113548014
|
|
NM_152641.4(ARID2):c.1746_1747del (p.Arg582fs)
|
|
|
NM_152641.4(ARID2):c.2659C>T (p.Gln887Ter)
|
|
|
NM_152641.4(ARID2):c.2828T>G (p.Ile943Ser)
|
rs2138166428
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NM_152641.4(ARID2):c.3037C>T (p.Gln1013Ter)
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rs2138168418
|
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NM_152641.4(ARID2):c.3643C>T (p.Gln1215Ter)
|
|
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NM_152641.4(ARID2):c.3927_3928del (p.Gly1310fs)
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rs1592121202
|
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NM_152641.4(ARID2):c.4126_4142del (p.Ile1376fs)
|
|
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NM_152641.4(ARID2):c.4318C>T (p.Gln1440Ter)
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rs772995852
|
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NM_152641.4(ARID2):c.4942_4943del (p.Gln1648fs)
|
rs2138231889
|
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NM_152641.4(ARID2):c.542_552del (p.Thr181fs)
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NM_152641.4(ARID2):c.791G>A (p.Trp264Ter)
|
|
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NM_152641.4(ARID2):c.820C>T (p.Arg274Ter)
|
rs1943228378
|
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NM_152641.4(ARID2):c.890C>T (p.Ser297Phe)
|
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