|
NM_001374828.1(ARID1B):c.5851G>A (p.Glu1951Lys)
|
rs1451259945
|
0.00004
|
|
NM_006852.6(TLK2):c.1636C>T (p.Arg546Trp)
|
rs1283838287
|
0.00003
|
|
NM_003072.5(SMARCA4):c.3922C>T (p.Arg1308Trp)
|
rs587779750
|
0.00001
|
|
NM_005862.3(STAG1):c.2936A>G (p.Lys979Arg)
|
rs1471479119
|
0.00001
|
|
NM_018489.3(ASH1L):c.5269C>T (p.Arg1757Ter)
|
rs1662320308
|
0.00001
|
|
GRCh37/hg19 3q22.1-22.3(chr3:132642704-136360844)x1
|
|
|
|
GRCh38/hg38 3q22.2-22.3(chr3:135343568-136642002)x1
|
|
|
|
GRCh38/hg38 3q22.2-22.3(chr3:135423479-136961152)x1
|
|
|
|
GRCh38/hg38 6q25.3(chr6:157179172-157184916)x1
|
|
|
|
NC_000017.11:g.59664787del
|
rs1598226304
|
|
|
NC_000017.11:g.59679324_59702065del
|
|
|
|
NM_001135638.2(PIP5K1A):c.1114C>T (p.Arg372Ter)
|
|
|
|
NM_001220.5(CAMK2B):c.416C>T (p.Pro139Leu)
|
rs1554389088
|
|
|
NM_001220.5(CAMK2B):c.601+1G>A
|
|
|
|
NM_001220.5(CAMK2B):c.696+1G>A
|
rs780130215
|
|
|
NM_001220.5(CAMK2B):c.863_864del (p.Val288fs)
|
|
|
|
NM_001320.7(CSNK2B):c.72+2T>G
|
rs2151182244
|
|
|
NM_001321075.3(DLG4):c.1083G>A (p.Ser361=)
|
rs1227093654
|
|
|
NM_001321075.3(DLG4):c.1084-1G>T
|
rs2142844164
|
|
|
NM_001321075.3(DLG4):c.10_13del (p.Leu4fs)
|
|
|
|
NM_001321075.3(DLG4):c.1478+2T>C
|
rs542036630
|
|
|
NM_001321075.3(DLG4):c.1479-2A>G
|
rs2142828286
|
|
|
NM_001321075.3(DLG4):c.1489C>T (p.Arg497Ter)
|
rs1567528092
|
|
|
NM_001321075.3(DLG4):c.1490del (p.Arg497fs)
|
|
|
|
NM_001321075.3(DLG4):c.1543+2T>C
|
rs1597444614
|
|
|
NM_001321075.3(DLG4):c.1592-1G>A
|
rs2142825829
|
|
|
NM_001321075.3(DLG4):c.1607C>T (p.Pro536Leu)
|
rs2142825745
|
|
|
NM_001321075.3(DLG4):c.1693+1G>A
|
rs2142825211
|
|
|
NM_001321075.3(DLG4):c.1832C>T (p.Thr611Ile)
|
rs2142821651
|
|
|
NM_001321075.3(DLG4):c.1866+2T>C
|
rs2142821543
|
|
|
NM_001321075.3(DLG4):c.1878C>A (p.Cys626Ter)
|
rs1451196379
|
|
|
NM_001321075.3(DLG4):c.210+1G>T
|
rs2070315709
|
|
|
NM_001321075.3(DLG4):c.210+2del
|
|
|
|
NM_001321075.3(DLG4):c.211-2A>G
|
rs2142886707
|
|
|
NM_001321075.3(DLG4):c.505+1G>T
|
|
|
|
NM_001321075.3(DLG4):c.506-2A>G
|
|
|
|
NM_001321075.3(DLG4):c.530G>T (p.Gly177Val)
|
rs2142884433
|
|
|
NM_001321075.3(DLG4):c.557A>T (p.Asp186Val)
|
rs2142884288
|
|
|
NM_001321075.3(DLG4):c.642G>A (p.Ala214=)
|
rs2142883774
|
|
|
NM_001321075.3(DLG4):c.643-1G>T
|
|
|
|
NM_001321075.3(DLG4):c.773del (p.Pro258fs)
|
|
|
|
NM_001321075.3(DLG4):c.787+2T>C
|
rs2142881946
|
|
|
NM_001348323.3(TRIP12):c.2625_2629del (p.Asn876fs)
|
|
|
|
NM_001348323.3(TRIP12):c.2679_2685del (p.Asp893fs)
|
|
|
|
NM_001348323.3(TRIP12):c.2764_2767dup (p.Ser923Ter)
|
|
|
|
NM_001348323.3(TRIP12):c.3808del (p.Ser1270fs)
|
rs2042881907
|
|
|
NM_001348323.3(TRIP12):c.4642CTT[1] (p.Leu1550del)
|
|
|
|
NM_001348323.3(TRIP12):c.4838+2T>G
|
rs2040714903
|
|
|
NM_001348323.3(TRIP12):c.4864C>T (p.Arg1622Trp)
|
rs1320218400
|
|
|
NM_001348323.3(TRIP12):c.4904G>A (p.Arg1635Gln)
|
rs2154255374
|
|
|
NM_001348323.3(TRIP12):c.4986T>A (p.Asp1662Glu)
|
rs1468657712
|
|
|
NM_001348323.3(TRIP12):c.5030C>T (p.Ala1677Val)
|
|
|
|
NM_001348323.3(TRIP12):c.5259_5276delinsAAATGATATG (p.Leu1754fs)
|
rs2154245501
|
|
|
NM_001348323.3(TRIP12):c.5801C>T (p.Pro1934Leu)
|
|
|
|
NM_001348323.3(TRIP12):c.6096_6109dup (p.Tyr2037Ter)
|
|
|
|
NM_001348323.3(TRIP12):c.6122C>T (p.Pro2041Leu)
|
rs2032214426
|
|
|
NM_001367534.1(CAMK2G):c.676A>G (p.Ile226Val)
|
|
|
|
NM_001367534.1(CAMK2G):c.969dup (p.Ala324fs)
|
rs2134277165
|
|
|
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_001379029.1(CERT1):c.728G>C (p.Gly243Ala)
|
|
|
|
NM_001386298.1(CIC):c.1026dup (p.Trp343fs)
|
|
|
|
NM_001386298.1(CIC):c.111_112del (p.Asp38fs)
|
|
|
|
NM_001386298.1(CIC):c.1582C>T (p.Arg528Ter)
|
rs2147018633
|
|
|
NM_001386298.1(CIC):c.1631del (p.Gly544fs)
|
|
|
|
NM_001386298.1(CIC):c.3407A>G (p.Asn1136Ser)
|
rs2037753806
|
|
|
NM_001386298.1(CIC):c.3428T>C (p.Leu1143Pro)
|
|
|
|
NM_001386298.1(CIC):c.4594G>T (p.Gly1532Ter)
|
rs747706524
|
|
|
NM_001386298.1(CIC):c.5424del (p.Ala1809fs)
|
|
|
|
NM_001386298.1(CIC):c.5501C>T (p.Pro1834Leu)
|
|
|
|
NM_001386298.1(CIC):c.6055C>T (p.Gln2019Ter)
|
|
|
|
NM_001386298.1(CIC):c.6793G>T (p.Glu2265Ter)
|
rs752780532
|
|
|
NM_002074.5(GNB1):c.498-2A>G
|
|
|
|
NM_002397.5(MEF2C):c.104T>C (p.Leu35Pro)
|
rs2153074771
|
|
|
NM_002397.5(MEF2C):c.104T>G (p.Leu35Arg)
|
rs2153074771
|
|
|
NM_002397.5(MEF2C):c.106A>C (p.Ser36Arg)
|
|
|
|
NM_002397.5(MEF2C):c.134T>C (p.Leu45Pro)
|
|
|
|
NM_002397.5(MEF2C):c.137T>A (p.Ile46Asn)
|
rs1799660837
|
|
|
NM_002397.5(MEF2C):c.170A>G (p.Tyr57Cys)
|
rs2153074319
|
|
|
NM_002397.5(MEF2C):c.177C>G (p.Ser59Arg)
|
rs1554139743
|
|
|
NM_002397.5(MEF2C):c.17T>A (p.Ile6Asn)
|
rs2153222922
|
|
|
NM_002397.5(MEF2C):c.194T>G (p.Val65Gly)
|
rs1580988074
|
|
|
NM_002397.5(MEF2C):c.216C>G (p.Tyr72Ter)
|
|
|
|
NM_002397.5(MEF2C):c.22A>C (p.Ile8Leu)
|
|
|
|
NM_002397.5(MEF2C):c.258+1G>A
|
rs1064797310
|
|
|
NM_002397.5(MEF2C):c.258+5G>C
|
rs2153073717
|
|
|
NM_002397.5(MEF2C):c.258G>A (p.Glu86=)
|
rs796052724
|
|
|
NM_002397.5(MEF2C):c.2T>C (p.Met1Thr)
|
rs545185248
|
|
|
NM_002397.5(MEF2C):c.402+146C>A
|
rs1358670337
|
|
|
NM_002397.5(MEF2C):c.402+184del
|
rs2152669802
|
|
|
NM_002397.5(MEF2C):c.43C>T (p.Arg15Cys)
|
rs796052728
|
|
|
NM_002397.5(MEF2C):c.44G>A (p.Arg15His)
|
rs1202957297
|
|
|
NM_002397.5(MEF2C):c.532C>T (p.Gln178Ter)
|
rs1772953161
|
|
|
NM_002397.5(MEF2C):c.565C>T (p.Arg189Ter)
|
rs587783747
|
|
|
NM_002397.5(MEF2C):c.637+1G>C
|
rs2152497250
|
|
|
NM_002397.5(MEF2C):c.637+1G>T
|
|
|
|
NM_002397.5(MEF2C):c.638-1G>A
|
rs2152281284
|
|
|
NM_002397.5(MEF2C):c.68A>G (p.Lys23Arg)
|
rs797045053
|
|
|
NM_002397.5(MEF2C):c.71G>A (p.Arg24Lys)
|
rs869312698
|
|
|
NM_002397.5(MEF2C):c.728dup (p.Met244fs)
|
|
|
|
NM_002397.5(MEF2C):c.79G>A (p.Gly27Arg)
|
|
|
|
NM_002397.5(MEF2C):c.810+2T>C
|
|
|
|
NM_002397.5(MEF2C):c.835-2A>G
|
|
|
|
NM_002397.5(MEF2C):c.89A>C (p.Lys30Thr)
|
|
|
|
NM_003011.4(SET):c.138dup (p.Glu47Ter)
|
|
|
|
NM_003011.4(SET):c.219del (p.Glu73fs)
|
|
|
|
NM_003011.4(SET):c.340_341del (p.Glu114fs)
|
rs1861593395
|
|
|
NM_003011.4(SET):c.573del (p.Trp192fs)
|
rs1861625938
|
|
|
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_004068.4(AP2M1):c.508C>T (p.Arg170Trp)
|
rs1577059692
|
|
|
NM_004859.4(CLTC):c.111del (p.Phe37fs)
|
rs2143496899
|
|
|
NM_004859.4(CLTC):c.1745C>T (p.Thr582Met)
|
|
|
|
NM_004859.4(CLTC):c.1824T>G (p.Tyr608Ter)
|
|
|
|
NM_004859.4(CLTC):c.2096_2099del (p.Ile699fs)
|
|
|
|
NM_004859.4(CLTC):c.2562-1G>C
|
|
|
|
NM_004859.4(CLTC):c.2669C>T (p.Pro890Leu)
|
|
|
|
NM_004859.4(CLTC):c.3239C>A (p.Ser1080Ter)
|
rs2143591718
|
|
|
NM_004859.4(CLTC):c.3493C>T (p.Arg1165Ter)
|
|
|
|
NM_004859.4(CLTC):c.3611del (p.Arg1204fs)
|
|
|
|
NM_004859.4(CLTC):c.3647TGT[1] (p.Leu1217del)
|
|
|
|
NM_004859.4(CLTC):c.3805G>C (p.Ala1269Pro)
|
|
|
|
NM_004859.4(CLTC):c.3905_3911del (p.Met1302fs)
|
|
|
|
NM_004859.4(CLTC):c.4411_4413del (p.Phe1471del)
|
|
|
|
NM_004859.4(CLTC):c.4602_4603dup (p.Lys1535fs)
|
|
|
|
NM_004859.4(CLTC):c.4722C>G (p.Tyr1574Ter)
|
rs367867382
|
|
|
NM_004973.4(JARID2):c.12_13del (p.Arg5fs)
|
rs2127277880
|
|
|
NM_005121.3(MED13):c.1036dup (p.Val346fs)
|
rs2143672313
|
|
|
NM_005121.3(MED13):c.1968-1G>A
|
rs2080338119
|
|
|
NM_005121.3(MED13):c.2503C>T (p.Pro835Ser)
|
|
|
|
NM_005121.3(MED13):c.3786_3787insAA (p.Pro1263fs)
|
|
|
|
NM_005121.3(MED13):c.3902C>G (p.Pro1301Arg)
|
rs2143410400
|
|
|
NM_005121.3(MED13):c.413_414dup (p.Ile139fs)
|
|
|
|
NM_005121.3(MED13):c.4225C>T (p.Arg1409Ter)
|
|
|
|
NM_005121.3(MED13):c.4802C>A (p.Ser1601Ter)
|
|
|
|
NM_005862.3(STAG1):c.1118G>A (p.Arg373Gln)
|
rs1376334317
|
|
|
NM_005862.3(STAG1):c.1129C>T (p.Arg377Cys)
|
rs1559824939
|
|
|
NM_005862.3(STAG1):c.1716dup (p.Ile573fs)
|
|
|
|
NM_005862.3(STAG1):c.1962dup (p.Asp655Ter)
|
|
|
|
NM_005862.3(STAG1):c.2009_2012del (p.Asn670fs)
|
rs1559791842
|
|
|
NM_005862.3(STAG1):c.2557dup (p.Glu853fs)
|
rs1560062082
|
|
|
NM_005862.3(STAG1):c.3241C>T (p.Arg1081Ter)
|
|
|
|
NM_005862.3(STAG1):c.3261del (p.Lys1087fs)
|
rs1553789166
|
|
|
NM_005862.3(STAG1):c.3691C>T (p.Arg1231Ter)
|
|
|
|
NM_005862.3(STAG1):c.418C>T (p.Arg140Ter)
|
|
|
|
NM_005862.3(STAG1):c.513del (p.Gln170_Trp171insTer)
|
rs2107905668
|
|
|
NM_005862.3(STAG1):c.625G>C (p.Gly209Arg)
|
rs2107905472
|
|
|
NM_005862.3(STAG1):c.646A>G (p.Arg216Gly)
|
rs1553738686
|
|
|
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_006734.4(HIVEP2):c.117del (p.Phe39fs)
|
|
|
|
NM_006734.4(HIVEP2):c.1189G>T (p.Asp397Tyr)
|
rs869312847
|
|
|
NM_006734.4(HIVEP2):c.2367del (p.Gly791fs)
|
|
|
|
NM_006734.4(HIVEP2):c.2925del (p.His975fs)
|
|
|
|
NM_006734.4(HIVEP2):c.3490C>T (p.Gln1164Ter)
|
|
|
|
NM_006734.4(HIVEP2):c.3678dup (p.Gln1227fs)
|
|
|
|
NM_006734.4(HIVEP2):c.4655del (p.Pro1552fs)
|
|
|
|
NM_006734.4(HIVEP2):c.5188-1del
|
|
|
|
NM_006734.4(HIVEP2):c.5620+1GT[2]
|
rs1775234925
|
|
|
NM_006734.4(HIVEP2):c.5935C>T (p.Arg1979Ter)
|
rs1554275163
|
|
|
NM_006734.4(HIVEP2):c.6964C>T (p.Gln2322Ter)
|
rs1554274371
|
|
|
NM_006852.6(TLK2):c.1015C>T (p.Arg339Trp)
|
rs1567948262
|
|
|
NM_006852.6(TLK2):c.1121+1G>A
|
rs2146617330
|
|
|
NM_006852.6(TLK2):c.1412A>G (p.His471Arg)
|
rs1567974030
|
|
|
NM_006852.6(TLK2):c.1480C>T (p.Arg494Trp)
|
|
|
|
NM_006852.6(TLK2):c.1487A>G (p.His496Arg)
|
rs1567995650
|
|
|
NM_006852.6(TLK2):c.1550+1G>A
|
rs2147105351
|
|
|
NM_006852.6(TLK2):c.1579G>A (p.Gly527Arg)
|
rs2147165095
|
|
|
NM_006852.6(TLK2):c.1586A>G (p.Asp529Gly)
|
rs2082811958
|
|
|
NM_006852.6(TLK2):c.1589T>C (p.Leu530Pro)
|
|
|
|
NM_006852.6(TLK2):c.1637G>A (p.Arg546Gln)
|
rs2147165727
|
|
|
NM_006852.6(TLK2):c.1819G>A (p.Asp607Asn)
|
rs1568006217
|
|
|
NM_006852.6(TLK2):c.1973C>G (p.Pro658Arg)
|
rs1568018905
|
|
|
NM_006852.6(TLK2):c.31C>T (p.Arg11Ter)
|
rs2144333874
|
|
|
NM_006852.6(TLK2):c.585C>A (p.Cys195Ter)
|
rs2146204977
|
|
|
NM_006852.6(TLK2):c.890G>A (p.Gly297Asp)
|
rs1555639254
|
|
|
NM_006852.6(TLK2):c.944G>T (p.Gly315Val)
|
|
|
|
NM_006852.6(TLK2):c.968+1G>A
|
rs1598620094
|
|
|
NM_007118.4(TRIO):c.1665_1666delinsTT (p.Trp555_Gln556delinsCysTer)
|
rs2152305937
|
|
|
NM_007118.4(TRIO):c.3224C>T (p.Thr1075Ile)
|
rs1745368018
|
|
|
NM_007118.4(TRIO):c.4085A>G (p.Tyr1362Cys)
|
|
|
|
NM_007118.4(TRIO):c.5619G>A (p.Met1873Ile)
|
|
|
|
NM_007118.4(TRIO):c.704del (p.Glu235fs)
|
rs2152284932
|
|
|
NM_007118.4(TRIO):c.7050del (p.Val2351fs)
|
|
|
|
NM_015125.5(CIC):c.3617del (p.Gln1206fs)
|
rs2147320674
|
|
|
NM_015981.4(CAMK2A):c.220C>T (p.Arg74Ter)
|
|
|
|
NM_015981.4(CAMK2A):c.329C>T (p.Ala110Val)
|
rs779607303
|
|
|
NM_015981.4(CAMK2A):c.415G>C (p.Glu139Gln)
|
|
|
|
NM_015981.4(CAMK2A):c.49G>A (p.Glu17Lys)
|
|
|
|
NM_015981.4(CAMK2A):c.524G>C (p.Gly175Ala)
|
rs2150280830
|
|
|
NM_015981.4(CAMK2A):c.59G>A (p.Gly20Asp)
|
rs2150315525
|
|
|
NM_015981.4(CAMK2A):c.755T>C (p.Leu252Pro)
|
|
|
|
NM_015981.4(CAMK2A):c.775C>T (p.Arg259Cys)
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NM_015981.4(CAMK2A):c.785_790del (p.Ala262_Ala263del)
|
rs2150279502
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NM_015981.4(CAMK2A):c.82C>T (p.Arg28Ter)
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NM_015981.4(CAMK2A):c.884C>A (p.Ala295Asp)
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NM_017635.5(KMT5B):c.2347C>T (p.Arg783Ter)
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NM_017635.5(KMT5B):c.2422_2425del (p.Leu808fs)
|
rs2153039957
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NM_017635.5(KMT5B):c.431_432del (p.Arg143_Phe144insTer)
|
rs1856229182
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NM_017635.5(KMT5B):c.559C>T (p.Arg187Ter)
|
rs114727354
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NM_017635.5(KMT5B):c.712GAG[1] (p.Glu239del)
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NM_017635.5(KMT5B):c.787C>T (p.Leu263Phe)
|
rs2153052371
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NM_017635.5(KMT5B):c.904G>A (p.Glu302Lys)
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NM_017635.5(KMT5B):c.914G>A (p.Cys305Tyr)
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NM_017635.5(KMT5B):c.972C>G (p.Cys324Trp)
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NM_018489.3(ASH1L):c.1907C>G (p.Ser636Ter)
|
rs1198775988
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NM_018489.3(ASH1L):c.2126dup (p.Leu709fs)
|
rs2148727707
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NM_018489.3(ASH1L):c.2134dup (p.Arg712fs)
|
rs1558150870
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NM_018489.3(ASH1L):c.326G>A (p.Arg109Gln)
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NM_018489.3(ASH1L):c.3838C>T (p.Arg1280Ter)
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rs1553265154
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NM_018489.3(ASH1L):c.3976dup (p.Ser1326fs)
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rs2148721714
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NM_018489.3(ASH1L):c.4065_4072del (p.Met1356fs)
|
rs2148721365
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NM_018489.3(ASH1L):c.4289G>T (p.Gly1430Val)
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NM_018489.3(ASH1L):c.4902_4903del (p.Ser1635fs)
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rs1665684529
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NM_018489.3(ASH1L):c.5575C>T (p.Gln1859Ter)
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NM_018489.3(ASH1L):c.6019C>T (p.Arg2007Ter)
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NM_018489.3(ASH1L):c.6129dup (p.Asp2044Ter)
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rs2148443341
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NM_018489.3(ASH1L):c.7804G>T (p.Val2602Leu)
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NM_018489.3(ASH1L):c.7957C>T (p.Arg2653Ter)
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NM_019842.4(KCNQ5):c.1040G>C (p.Gly347Ala)
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rs1775232605
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NM_019842.4(KCNQ5):c.1076G>A (p.Arg359His)
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NM_019842.4(KCNQ5):c.1291A>T (p.Arg431Trp)
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rs1776322078
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NM_019842.4(KCNQ5):c.1667G>C (p.Gly556Ala)
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NM_019842.4(KCNQ5):c.532C>T (p.Arg178Ter)
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rs1554201137
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NM_019842.4(KCNQ5):c.545C>T (p.Ala182Val)
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NM_019842.4(KCNQ5):c.875A>G (p.Asn292Ser)
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NM_021008.4(DEAF1):c.782G>C (p.Arg261Pro)
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NM_024665.7(TBL1XR1):c.1000T>C (p.Cys334Arg)
|
rs1576994101
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NM_024665.7(TBL1XR1):c.1043A>G (p.His348Arg)
|
rs1576994053
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NM_024665.7(TBL1XR1):c.1182_1183dup (p.Tyr395fs)
|
rs2108414363
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NM_024665.7(TBL1XR1):c.1336T>C (p.Tyr446His)
|
rs1553808301
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NM_024665.7(TBL1XR1):c.1378G>A (p.Gly460Ser)
|
rs2108407721
|
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NM_024665.7(TBL1XR1):c.1453G>A (p.Gly485Arg)
|
rs2108378323
|
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NM_024665.7(TBL1XR1):c.187G>A (p.Glu63Lys)
|
rs2108503870
|
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NM_024665.7(TBL1XR1):c.204+2del
|
rs2108503840
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NM_024665.7(TBL1XR1):c.205-7A>G
|
rs1717116134
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NM_024665.7(TBL1XR1):c.524G>A (p.Cys175Tyr)
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NM_024665.7(TBL1XR1):c.59-1G>A
|
rs2108504144
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NM_024665.7(TBL1XR1):c.679G>A (p.Asp227Asn)
|
rs2108490656
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NM_024665.7(TBL1XR1):c.689C>T (p.Ser230Phe)
|
rs1553815393
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NM_024665.7(TBL1XR1):c.728G>A (p.Gly243Asp)
|
rs2108480284
|
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NM_024665.7(TBL1XR1):c.809T>G (p.Phe270Cys)
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NM_024665.7(TBL1XR1):c.937G>A (p.Asp313Asn)
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NM_024665.7(TBL1XR1):c.970T>G (p.Ser324Ala)
|
rs2108437312
|
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NM_024665.7(TBL1XR1):c.973_975dup (p.Cys325dup)
|
rs1715105181
|
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NM_024665.7(TBL1XR1):c.974G>A (p.Cys325Tyr)
|
rs1553810255
|
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NM_024665.7(TBL1XR1):c.977G>T (p.Ser326Ile)
|
rs1135401760
|
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NM_057175.5(NAA15):c.1021del (p.Ile341fs)
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NM_057175.5(NAA15):c.1118T>A (p.Leu373Ter)
|
rs2110948948
|
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NM_057175.5(NAA15):c.1257+1G>A
|
rs1747996495
|
|
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NM_057175.5(NAA15):c.134A>G (p.His45Arg)
|
rs2110895965
|
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NM_057175.5(NAA15):c.139_139+1dup
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NM_057175.5(NAA15):c.1549G>C (p.Glu517Gln)
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NM_057175.5(NAA15):c.1645C>T (p.Arg549Ter)
|
rs1179904078
|
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NM_057175.5(NAA15):c.1772del (p.Glu591fs)
|
rs2110977229
|
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NM_057175.5(NAA15):c.219G>T (p.Leu73Phe)
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NM_057175.5(NAA15):c.231dup (p.Lys78fs)
|
rs757423402
|
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NM_057175.5(NAA15):c.2344C>T (p.Arg782Ter)
|
rs1270628305
|
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NM_057175.5(NAA15):c.327G>A (p.Trp109Ter)
|
rs2110911054
|
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NM_057175.5(NAA15):c.395dup (p.Tyr133fs)
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|
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NM_057175.5(NAA15):c.403-1G>A
|
rs2110915238
|
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NM_057175.5(NAA15):c.55-2A>C
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NM_057175.5(NAA15):c.655C>T (p.Gln219Ter)
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|
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NM_057175.5(NAA15):c.691+1G>A
|
rs1579109565
|
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NM_057175.5(NAA15):c.779del (p.Tyr260fs)
|
rs2110930242
|
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NM_057175.5(NAA15):c.839_840del (p.Ile279_Tyr280insTer)
|
|
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NM_057175.5(NAA15):c.962del (p.Gly321fs)
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NM_138459.5(NUS1):c.220_244del (p.Gly74fs)
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|
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NM_138459.5(NUS1):c.26G>A (p.Trp9Ter)
|
rs2114674308
|
|
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NM_138459.5(NUS1):c.439A>T (p.Arg147Ter)
|
|
|
|
NM_138459.5(NUS1):c.677dup (p.Leu226fs)
|
|
|
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NM_138459.5(NUS1):c.692-2A>G
|
rs2114693876
|
|
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NM_152641.4(ARID2):c.1028T>A (p.Leu343Ter)
|
rs796052242
|
|
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NM_152641.4(ARID2):c.109dup (p.Ile37fs)
|
rs2137959601
|
|
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NM_152641.4(ARID2):c.1284_1288del (p.Met428fs)
|
rs2138132620
|
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NM_152641.4(ARID2):c.1716-2A>G
|
rs113548014
|
|
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NM_152641.4(ARID2):c.1746_1747del (p.Arg582fs)
|
|
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NM_152641.4(ARID2):c.2659C>T (p.Gln887Ter)
|
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NM_152641.4(ARID2):c.2828T>G (p.Ile943Ser)
|
rs2138166428
|
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NM_152641.4(ARID2):c.3037C>T (p.Gln1013Ter)
|
rs2138168418
|
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NM_152641.4(ARID2):c.3643C>T (p.Gln1215Ter)
|
|
|
|
NM_152641.4(ARID2):c.3927_3928del (p.Gly1310fs)
|
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)
|
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)
|
|
|
|
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)
|
|
|
|
NM_205768.3(ZBTB18):c.1147del (p.Leu383fs)
|
rs1698428309
|
|
|
NM_205768.3(ZBTB18):c.1207del (p.Arg403fs)
|
rs2148557361
|
|
|
NM_205768.3(ZBTB18):c.1210G>A (p.Glu404Lys)
|
rs2148557375
|
|
|
NM_205768.3(ZBTB18):c.1283T>G (p.Phe428Cys)
|
rs1572531730
|
|
|
NM_205768.3(ZBTB18):c.1301T>C (p.Leu434Pro)
|
rs1553270599
|
|
|
NM_205768.3(ZBTB18):c.1306C>T (p.Arg436Cys)
|
rs1698434969
|
|
|
NM_205768.3(ZBTB18):c.1307G>A (p.Arg436His)
|
rs1572531765
|
|
|
NM_205768.3(ZBTB18):c.1309C>T (p.His437Tyr)
|
|
|
|
NM_205768.3(ZBTB18):c.1355G>A (p.Cys452Tyr)
|
rs1572531830
|
|
|
NM_205768.3(ZBTB18):c.1378C>T (p.His460Tyr)
|
rs1698437148
|
|
|
NM_205768.3(ZBTB18):c.1391G>C (p.Arg464Pro)
|
rs1558149913
|
|
|
NM_205768.3(ZBTB18):c.1391G>T (p.Arg464Leu)
|
rs1558149913
|
|
|
NM_205768.3(ZBTB18):c.1403T>C (p.Val468Ala)
|
rs2148557671
|
|
|
NM_205768.3(ZBTB18):c.1411C>T (p.Arg471Cys)
|
|
|
|
NM_205768.3(ZBTB18):c.1423C>G (p.His475Asp)
|
|
|
|
NM_205768.3(ZBTB18):c.142C>G (p.Arg48Gly)
|
rs1135401770
|
|
|
NM_205768.3(ZBTB18):c.1465G>T (p.Asp489Tyr)
|
rs1572532005
|
|
|
NM_205768.3(ZBTB18):c.1473C>G (p.Tyr491Ter)
|
rs376898131
|
|
|
NM_205768.3(ZBTB18):c.1478A>G (p.His493Arg)
|
|
|
|
NM_205768.3(ZBTB18):c.1493A>C (p.His498Pro)
|
rs1553270640
|
|
|
NM_205768.3(ZBTB18):c.160T>C (p.Cys54Arg)
|
rs869312689
|
|
|
NM_205768.3(ZBTB18):c.204_205del (p.Asp70fs)
|
|
|
|
NM_205768.3(ZBTB18):c.244_246dup (p.Pro82_Ala83insPro)
|
|
|
|
NM_205768.3(ZBTB18):c.306del (p.Ile103fs)
|
|
|
|
NM_205768.3(ZBTB18):c.686_687del (p.Glu229fs)
|
|
|
|
NM_205768.3(ZBTB18):c.764_765dup (p.Ser256fs)
|
|
|
|
NM_205768.3(ZBTB18):c.922G>T (p.Glu308Ter)
|
rs763141634
|
|
|
Single allele
|
|
|