NM_152641.4(ARID2):c.1472C>G (p.Thr491Ser)
|
rs149755754
|
0.00071
|
NM_003072.5(SMARCA4):c.2176C>T (p.Arg726Cys)
|
rs778049192
|
0.00004
|
NM_006734.4(HIVEP2):c.1339C>T (p.Arg447Cys)
|
rs752550288
|
0.00003
|
NM_001374828.1(ARID1B):c.2711G>A (p.Ser904Asn)
|
rs1159561275
|
0.00002
|
NM_001220.5(CAMK2B):c.1655del (p.Gly552fs)
|
rs2096392954
|
|
NM_001220.5(CAMK2B):c.342-2A>G
|
|
|
NM_001220.5(CAMK2B):c.416C>T (p.Pro139Leu)
|
rs1554389088
|
|
NM_001321075.3(DLG4):c.1018_1025del (p.Phe340fs)
|
rs1597453595
|
|
NM_001321075.3(DLG4):c.1083G>A (p.Ser361=)
|
rs1227093654
|
|
NM_001321075.3(DLG4):c.1084-1G>T
|
rs2142844164
|
|
NM_001321075.3(DLG4):c.1102C>T (p.Arg368Ter)
|
rs1597452702
|
|
NM_001321075.3(DLG4):c.1195C>T (p.Arg399Ter)
|
rs2069779430
|
|
NM_001321075.3(DLG4):c.1201G>T (p.Glu401Ter)
|
rs2069778929
|
|
NM_001321075.3(DLG4):c.129del (p.Asp43fs)
|
|
|
NM_001321075.3(DLG4):c.1434dup (p.Asp479Ter)
|
rs2069660959
|
|
NM_001321075.3(DLG4):c.1458del (p.Phe487fs)
|
rs2142830670
|
|
NM_001321075.3(DLG4):c.1478+2T>C
|
rs542036630
|
|
NM_001321075.3(DLG4):c.1478+4_1478+19del
|
rs2142830394
|
|
NM_001321075.3(DLG4):c.1486C>T (p.Arg496Ter)
|
rs2142828228
|
|
NM_001321075.3(DLG4):c.1489C>T (p.Arg497Ter)
|
rs1567528092
|
|
NM_001321075.3(DLG4):c.148dup (p.Tyr50fs)
|
rs869312859
|
|
NM_001321075.3(DLG4):c.1496G>A (p.Trp499Ter)
|
rs1160688414
|
|
NM_001321075.3(DLG4):c.1497G>A (p.Trp499Ter)
|
rs2142828170
|
|
NM_001321075.3(DLG4):c.1543+2T>C
|
rs1597444614
|
|
NM_001321075.3(DLG4):c.1546C>T (p.Arg516Ter)
|
rs778104648
|
|
NM_001321075.3(DLG4):c.1592-1G>A
|
rs2142825829
|
|
NM_001321075.3(DLG4):c.1672A>T (p.Lys558Ter)
|
rs2142825224
|
|
NM_001321075.3(DLG4):c.1693+1G>A
|
rs2142825211
|
|
NM_001321075.3(DLG4):c.1714del (p.Glu572fs)
|
rs1597442444
|
|
NM_001321075.3(DLG4):c.1757G>A (p.Arg586Gln)
|
rs2142821925
|
|
NM_001321075.3(DLG4):c.1832C>T (p.Thr611Ile)
|
rs2142821651
|
|
NM_001321075.3(DLG4):c.1849C>T (p.Arg617Ter)
|
rs767384318
|
|
NM_001321075.3(DLG4):c.1855del (p.Val619fs)
|
rs2142821587
|
|
NM_001321075.3(DLG4):c.1866+2T>C
|
rs2142821543
|
|
NM_001321075.3(DLG4):c.1878C>A (p.Cys626Ter)
|
rs1451196379
|
|
NM_001321075.3(DLG4):c.193G>T (p.Glu65Ter)
|
rs2142888007
|
|
NM_001321075.3(DLG4):c.2074_2078delinsT (p.Val692fs)
|
rs2142803273
|
|
NM_001321075.3(DLG4):c.210+1G>T
|
rs2070315709
|
|
NM_001321075.3(DLG4):c.211-2A>G
|
rs2142886707
|
|
NM_001321075.3(DLG4):c.218C>G (p.Ser73Ter)
|
rs2142886687
|
|
NM_001321075.3(DLG4):c.243dup (p.Gly82fs)
|
rs2142886600
|
|
NM_001321075.3(DLG4):c.319C>T (p.Gln107Ter)
|
rs2142886433
|
|
NM_001321075.3(DLG4):c.326del (p.Gly109fs)
|
rs1597472411
|
|
NM_001321075.3(DLG4):c.339del (p.Asn114fs)
|
rs2142885916
|
|
NM_001321075.3(DLG4):c.478G>T (p.Glu160Ter)
|
rs2142885279
|
|
NM_001321075.3(DLG4):c.525dup (p.Gly176fs)
|
rs1597471063
|
|
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.592G>A (p.Gly198Ser)
|
rs1326420629
|
|
NM_001321075.3(DLG4):c.605del (p.Lys202fs)
|
rs1064795686
|
|
NM_001321075.3(DLG4):c.787+2T>C
|
rs2142881946
|
|
NM_001321075.3(DLG4):c.792T>A (p.Tyr264Ter)
|
rs2069827755
|
|
NM_001321075.3(DLG4):c.925C>T (p.Arg309Ter)
|
rs1182894684
|
|
NM_001321075.3(DLG4):c.990C>T (p.Gly330=)
|
rs769940216
|
|
NM_001321075.3(DLG4):c.995A>G (p.Asp332Gly)
|
rs2142845915
|
|
NM_001348323.3(TRIP12):c.1651C>T (p.Arg551Ter)
|
rs1553636520
|
|
NM_001348323.3(TRIP12):c.3774G>T (p.Glu1258Asp)
|
rs1268798250
|
|
NM_001348323.3(TRIP12):c.3808del (p.Ser1270fs)
|
rs2042881907
|
|
NM_001348323.3(TRIP12):c.3869del (p.Leu1290fs)
|
|
|
NM_001348323.3(TRIP12):c.4726del (p.Ser1576fs)
|
rs2154256586
|
|
NM_001348323.3(TRIP12):c.6184C>T (p.Gln2062Ter)
|
rs1387893497
|
|
NM_001374828.1(ARID1B):c.1293_1320dup (p.Tyr441fs)
|
|
|
NM_001374828.1(ARID1B):c.1737del (p.Ser580fs)
|
rs1779022643
|
|
NM_001374828.1(ARID1B):c.1789C>T (p.Gln597Ter)
|
rs1779032666
|
|
NM_001374828.1(ARID1B):c.1987-29742G>A
|
rs1554261846
|
|
NM_001374828.1(ARID1B):c.2025C>G (p.Tyr675Ter)
|
rs773640553
|
|
NM_001374828.1(ARID1B):c.2287G>T (p.Glu763Ter)
|
rs1554294593
|
|
NM_001374828.1(ARID1B):c.2603_2606del (p.Arg868fs)
|
rs1085307695
|
|
NM_001374828.1(ARID1B):c.2762-3_2762-2delinsAG
|
|
|
NM_001374828.1(ARID1B):c.2956del (p.Ser985_Met986insTer)
|
rs2128634579
|
|
NM_001374828.1(ARID1B):c.3955dup (p.Gln1319fs)
|
rs1289067120
|
|
NM_001374828.1(ARID1B):c.5897G>T (p.Arg1966Leu)
|
rs758748419
|
|
NM_001374828.1(ARID1B):c.5916dup (p.Ser1974fs)
|
rs35441529
|
|
NM_001374828.1(ARID1B):c.6028del (p.Ala2010fs)
|
rs1794490994
|
|
NM_001374828.1(ARID1B):c.6751C>T (p.Arg2251Ter)
|
rs1554238072
|
|
NM_001379029.1(CERT1):c.395C>T (p.Ser132Leu)
|
rs1064794019
|
|
NM_001386298.1(CIC):c.4612C>T (p.Gln1538Ter)
|
rs2038020420
|
|
NM_001386298.1(CIC):c.6173C>G (p.Thr2058Ser)
|
rs2038239333
|
|
NM_001386298.1(CIC):c.6793G>T (p.Glu2265Ter)
|
rs752780532
|
|
NM_002074.5(GNB1):c.233A>G (p.Lys78Arg)
|
rs869312823
|
|
NM_002074.5(GNB1):c.239T>C (p.Ile80Thr)
|
rs752746786
|
|
NM_002074.5(GNB1):c.274G>A (p.Ala92Thr)
|
rs1557889974
|
|
NM_002074.5(GNB1):c.280C>T (p.Pro94Ser)
|
rs1646671069
|
|
NM_002074.5(GNB1):c.487G>A (p.Asp163Asn)
|
rs2100546220
|
|
NM_002397.5(MEF2C):c.-26C>T
|
rs758320958
|
|
NM_002397.5(MEF2C):c.110T>C (p.Val37Ala)
|
rs1799677960
|
|
NM_002397.5(MEF2C):c.1247C>T (p.Ala416Val)
|
rs768570497
|
|
NM_002397.5(MEF2C):c.177C>G (p.Ser59Arg)
|
rs1554139743
|
|
NM_002397.5(MEF2C):c.402+145A>G
|
rs1777617806
|
|
NM_002397.5(MEF2C):c.658C>T (p.Arg220Ter)
|
rs1761818173
|
|
NM_003011.4(SET):c.573del (p.Trp192fs)
|
rs1861625938
|
|
NM_003011.4(SET):c.74-3C>G
|
rs775179714
|
|
NM_003072.5(SMARCA4):c.1462G>A (p.Glu488Lys)
|
rs2145938426
|
|
NM_003072.5(SMARCA4):c.4891A>T (p.Ser1631Cys)
|
rs1600649575
|
|
NM_003108.4(SOX11):c.309GCGGCT[3] (p.104RL[3])
|
rs2103276417
|
|
NM_003108.4(SOX11):c.347A>G (p.Tyr116Cys)
|
rs587777479
|
|
NM_003108.4(SOX11):c.650_651insGA (p.Lys218fs)
|
rs2103276750
|
|
NM_004068.4(AP2M1):c.73G>A (p.Gly25Arg)
|
rs2109028363
|
|
NM_004859.4(CLTC):c.111del (p.Phe37fs)
|
rs2143496899
|
|
NM_004859.4(CLTC):c.1592A>T (p.Gln531Leu)
|
rs2032692372
|
|
NM_004859.4(CLTC):c.187C>T (p.Arg63Ter)
|
rs1598211790
|
|
NM_005121.3(MED13):c.6117G>A (p.Lys2039=)
|
|
|
NM_005862.3(STAG1):c.2647A>T (p.Met883Leu)
|
rs1937096737
|
|
NM_006015.6(ARID1A):c.1029_1043del (p.Ala345_Ala349del)
|
rs751352361
|
|
NM_006015.6(ARID1A):c.261_275del (p.Ala88_Gly92del)
|
rs2080257947
|
|
NM_006015.6(ARID1A):c.284del (p.Gly95fs)
|
|
|
NM_006015.6(ARID1A):c.3033G>T (p.Leu1011Phe)
|
rs1553152590
|
|
NM_006015.6(ARID1A):c.4004+5G>A
|
rs2081106391
|
|
NM_006015.6(ARID1A):c.4102-1G>C
|
rs2081113293
|
|
NM_006015.6(ARID1A):c.849_854del (p.Gly284_Gly285del)
|
rs766163118
|
|
NM_006734.4(HIVEP2):c.3064C>T (p.His1022Tyr)
|
rs1775548729
|
|
NM_006734.4(HIVEP2):c.7072C>T (p.His2358Tyr)
|
rs1774972546
|
|
NM_006852.6(TLK2):c.1971G>C (p.Lys657Asn)
|
rs1413696538
|
|
NM_006852.6(TLK2):c.2042A>G (p.Gln681Arg)
|
rs2147284271
|
|
NM_006852.6(TLK2):c.36del (p.Gln13fs)
|
rs2144334211
|
|
NM_015981.4(CAMK2A):c.59G>A (p.Gly20Asp)
|
rs2150315525
|
|
NM_017635.5(KMT5B):c.329C>G (p.Ser110Ter)
|
rs1856779339
|
|
NM_018489.3(ASH1L):c.3838C>T (p.Arg1280Ter)
|
rs1553265154
|
|
NM_019842.4(KCNQ5):c.1076G>A (p.Arg359His)
|
|
|
NM_019842.4(KCNQ5):c.1106C>T (p.Pro369Leu)
|
rs1135401958
|
|
NM_024665.7(TBL1XR1):c.208G>C (p.Gly70Arg)
|
rs1717114995
|
|
NM_024665.7(TBL1XR1):c.559G>C (p.Gly187Arg)
|
rs2108492204
|
|
NM_024665.7(TBL1XR1):c.728G>A (p.Gly243Asp)
|
rs2108480284
|
|
NM_057175.5(NAA15):c.1645C>T (p.Arg549Ter)
|
rs1179904078
|
|
NM_057175.5(NAA15):c.1754-2A>G
|
rs1748397238
|
|
NM_057175.5(NAA15):c.1772del (p.Glu591fs)
|
rs2110977229
|
|
NM_057175.5(NAA15):c.2344C>T (p.Arg782Ter)
|
rs1270628305
|
|
NM_057175.5(NAA15):c.655C>T (p.Gln219Ter)
|
|
|
NM_130797.4(DPP6):c.3G>A (p.Met1Ile)
|
|
|
NM_130797.4(DPP6):c.914G>A (p.Trp305Ter)
|
rs1796104181
|
|
NM_138459.5(NUS1):c.26G>A (p.Trp9Ter)
|
rs2114674308
|
|
NM_138459.5(NUS1):c.677dup (p.Leu226fs)
|
|
|
NM_138459.5(NUS1):c.869G>A (p.Arg290His)
|
rs886037858
|
|
NM_152641.4(ARID2):c.1716-2A>G
|
rs113548014
|
|
NM_152641.4(ARID2):c.4540_4541delinsGAA (p.Thr1514fs)
|
rs2138180455
|
|
NM_205768.3(ZBTB18):c.1307G>A (p.Arg436His)
|
rs1572531765
|
|
NM_205768.3(ZBTB18):c.1473C>G (p.Tyr491Ter)
|
rs376898131
|
|