NM_000219.6(KCNE1):c.226G>A (p.Asp76Asn)
|
rs74315445
|
0.00005
|
NM_000218.3(KCNQ1):c.1748G>A (p.Arg583His)
|
rs199473482
|
0.00004
|
NM_000312.4(PROC):c.127G>A (p.Ala43Thr)
|
rs767626189
|
0.00004
|
NM_019616.4(F7):c.403G>A (p.Gly135Ser)
|
rs763458490
|
0.00004
|
NM_000218.3(KCNQ1):c.1621G>A (p.Val541Ile)
|
rs199472796
|
0.00002
|
NM_000218.3(KCNQ1):c.1768G>A (p.Ala590Thr)
|
rs199472813
|
0.00002
|
NM_000218.3(KCNQ1):c.877C>T (p.Arg293Cys)
|
rs199472737
|
0.00002
|
NM_000238.4(KCNH2):c.1052C>T (p.Ser351Leu)
|
rs759134380
|
0.00001
|
NM_000238.4(KCNH2):c.2053C>T (p.Arg685Cys)
|
rs778135438
|
0.00001
|
NM_000312.4(PROC):c.433G>A (p.Gly145Ser)
|
rs370813536
|
0.00001
|
NM_000313.4(PROS1):c.1252A>T (p.Asn418Tyr)
|
rs753603433
|
0.00001
|
NM_000335.5(SCN5A):c.2677C>T (p.Arg893Cys)
|
rs199473171
|
0.00001
|
NM_000335.5(SCN5A):c.3781G>A (p.Gly1261Ser)
|
rs137854616
|
0.00001
|
NM_000488.4(SERPINC1):c.133C>T (p.Arg45Trp)
|
rs768704768
|
0.00001
|
NM_000492.4(CFTR):c.476T>C (p.Leu159Ser)
|
rs397508727
|
0.00001
|
NM_000719.7(CACNA1C):c.2579G>A (p.Arg860Gln)
|
rs730880056
|
0.00001
|
NM_001267550.2(TTN):c.44272C>T (p.Arg14758Ter)
|
rs140743001
|
0.00001
|
NM_005228.5(EGFR):c.2402A>G (p.Tyr801Cys)
|
rs779394350
|
0.00001
|
NM_014168.4(METTL5):c.362A>G (p.Asp121Gly)
|
rs760916142
|
0.00001
|
NM_019616.4(F7):c.1105G>A (p.Gly369Ser)
|
rs190485816
|
0.00001
|
NM_023936.2(MRPS34):c.562G>A (p.Glu188Lys)
|
rs1313473522
|
0.00001
|
NM_153704.6(TMEM67):c.1322G>A (p.Arg441His)
|
rs386834183
|
0.00001
|
NC_000011.9:g.(2683312_2790073)_(2799268_2868996)dup
|
|
|
NM_000020.3(ACVRL1):c.1334_1335del (p.Asp445fs)
|
rs2139084307
|
|
NM_000020.3(ACVRL1):c.1376del (p.Pro459fs)
|
|
|
NM_000020.3(ACVRL1):c.994A>G (p.Lys332Glu)
|
rs2139073925
|
|
NM_000021.4(PSEN1):c.257T>G (p.Phe86Cys)
|
rs1594998354
|
|
NM_000038.6(APC):c.5493dup (p.Asp1832fs)
|
|
|
NM_000038.6(APC):c.7658_7661dup (p.His2554fs)
|
|
|
NM_000054.7(AVPR2):c.993dup (p.Val332fs)
|
|
|
NM_000069.3(CACNA1S):c.2690G>C (p.Arg897Thr)
|
rs1287079817
|
|
NM_000088.4(COL1A1):c.2858G>T (p.Gly953Val)
|
|
|
NM_000089.4(COL1A2):c.1235G>T (p.Gly412Val)
|
rs1554396283
|
|
NM_000091.5(COL4A3):c.1381G>C (p.Gly461Arg)
|
rs1135401954
|
|
NM_000091.5(COL4A3):c.2135G>T (p.Gly712Val)
|
rs2071832975
|
|
NM_000091.5(COL4A3):c.3257G>A (p.Gly1086Glu)
|
rs1574813350
|
|
NM_000091.5(COL4A3):c.647G>T (p.Gly216Val)
|
rs2069899081
|
|
NM_000091.5(COL4A3):c.680G>A (p.Gly227Glu)
|
rs1574698507
|
|
NM_000091.5(COL4A3):c.880G>C (p.Gly294Arg)
|
rs2125936494
|
|
NM_000092.5(COL4A4):c.2654G>A (p.Gly885Asp)
|
rs1425028482
|
|
NM_000092.5(COL4A4):c.755G>C (p.Gly252Ala)
|
|
|
NM_000110.4(DPYD):c.508C>T (p.Gln170Ter)
|
|
|
NM_000132.4(F8):c.2045T>C (p.Val682Ala)
|
|
|
NM_000132.4(F8):c.6443A>G (p.Asn2148Ser)
|
rs1321311878
|
|
NM_000132.4(F8):c.6454T>C (p.Ser2152Pro)
|
|
|
NM_000133.4(F9):c.1084A>G (p.Lys362Glu)
|
|
|
NM_000133.4(F9):c.959A>G (p.Glu320Gly)
|
|
|
NM_000159.4(GCDH):c.446T>C (p.Met149Thr)
|
rs2145944429
|
|
NM_000165.5(GJA1):c.436_441del (p.Lys146_Met147del)
|
rs2114283487
|
|
NM_000214.3(JAG1):c.2459-2A>G
|
|
|
NM_000217.3(KCNA1):c.1183G>T (p.Ala395Ser)
|
rs1135401950
|
|
NM_000218.3(KCNQ1):c.1109C>A (p.Ala370Glu)
|
rs775362401
|
|
NM_000218.3(KCNQ1):c.1552C>G (p.Arg518Gly)
|
rs17215500
|
|
NM_000218.3(KCNQ1):c.1700T>C (p.Ile567Thr)
|
rs199472805
|
|
NM_000218.3(KCNQ1):c.1762A>T (p.Ile588Phe)
|
rs794728536
|
|
NM_000218.3(KCNQ1):c.321G>T (p.Gln107His)
|
rs1554958092
|
|
NM_000218.3(KCNQ1):c.776G>C (p.Arg259Pro)
|
rs199472720
|
|
NM_000218.3(KCNQ1):c.965C>A (p.Thr322Lys)
|
rs199472755
|
|
NM_000219.6(KCNE1):c.166_180del (p.Phe56_Gly60del)
|
rs1568836457
|
|
NM_000238.4(KCNH2):c.1238T>G (p.Leu413Arg)
|
rs199472893
|
|
NM_000238.4(KCNH2):c.139G>T (p.Gly47Cys)
|
rs794728409
|
|
NM_000238.4(KCNH2):c.1469C>T (p.Ala490Val)
|
rs1801214475
|
|
NM_000238.4(KCNH2):c.146G>T (p.Cys49Phe)
|
rs199472840
|
|
NM_000238.4(KCNH2):c.1525G>A (p.Asp509Asn)
|
rs370637245
|
|
NM_000238.4(KCNH2):c.1838C>T (p.Thr613Met)
|
rs199473524
|
|
NM_000238.4(KCNH2):c.1910AGA[1] (p.Lys638del)
|
rs794728442
|
|
NM_000238.4(KCNH2):c.92T>A (p.Ile31Asn)
|
rs199472833
|
|
NM_000257.4(MYH7):c.2771A>G (p.Glu924Gly)
|
rs1566530698
|
|
NM_000278.5(PAX2):c.212G>T (p.Arg71Met)
|
|
|
NM_000283.4(PDE6B):c.1070T>A (p.Ile357Asn)
|
|
|
NM_000312.4(PROC):c.1005G>C (p.Gln335His)
|
|
|
NM_000312.4(PROC):c.1154T>C (p.Met385Thr)
|
rs1688692269
|
|
NM_000312.4(PROC):c.382G>C (p.Gly128Arg)
|
|
|
NM_000312.4(PROC):c.632G>A (p.Arg211Gln)
|
rs199469476
|
|
NM_000312.4(PROC):c.673T>C (p.Trp225Arg)
|
rs1277271891
|
|
NM_000312.4(PROC):c.983G>A (p.Arg328His)
|
rs1688677671
|
|
NM_000312.4(PROC):c.989T>C (p.Leu330Pro)
|
|
|
NM_000313.4(PROS1):c.1085A>G (p.Gln362Arg)
|
|
|
NM_000313.4(PROS1):c.154G>C (p.Gly52Arg)
|
rs2107202922
|
|
NM_000313.4(PROS1):c.447G>T (p.Trp149Cys)
|
|
|
NM_000313.4(PROS1):c.595T>C (p.Cys199Arg)
|
rs2107170811
|
|
NM_000313.4(PROS1):c.766T>A (p.Cys256Ser)
|
rs1576182848
|
|
NM_000313.4(PROS1):c.832G>T (p.Asp278Tyr)
|
|
|
NM_000314.6(PTEN):c.866_867insGA (p.Val290Lysfs)
|
rs1564568303
|
|
NM_000335.5(SCN5A):c.1066G>T (p.Asp356Tyr)
|
rs199473565
|
|
NM_000335.5(SCN5A):c.1198G>T (p.Gly400Trp)
|
rs2062008854
|
|
NM_000335.5(SCN5A):c.4009CTC[1] (p.Leu1338del)
|
rs1559732656
|
|
NM_000335.5(SCN5A):c.4134CAA[1] (p.Asn1379del)
|
rs794728922
|
|
NM_000335.5(SCN5A):c.4296G>T (p.Gly1432=)
|
rs794728935
|
|
NM_000335.5(SCN5A):c.4309C>T (p.Pro1437Ser)
|
rs1559729142
|
|
NM_000335.5(SCN5A):c.4460C>A (p.Thr1487Lys)
|
rs199473259
|
|
NM_000335.5(SCN5A):c.4865G>T (p.Arg1622Leu)
|
rs137854600
|
|
NM_000335.5(SCN5A):c.5354T>C (p.Leu1785Pro)
|
rs199473315
|
|
NM_000388.4(CASR):c.2360G>A (p.Cys787Tyr)
|
|
|
NM_000488.4(SERPINC1):c.116T>C (p.Ile39Thr)
|
rs121909558
|
|
NM_000488.4(SERPINC1):c.1219-1G>A
|
|
|
NM_000488.4(SERPINC1):c.614T>C (p.Leu205Pro)
|
|
|
NM_000488.4(SERPINC1):c.819G>C (p.Lys273Asn)
|
rs2102783199
|
|
NM_000489.6(ATRX):c.4981C>T (p.Arg1661Cys)
|
|
|
NM_000489.6(ATRX):c.6127T>C (p.Ser2043Pro)
|
|
|
NM_000489.6(ATRX):c.7192C>T (p.Gln2398Ter)
|
rs1569515457
|
|
NM_000500.9(CYP21A2):c.497C>G (p.Ser166Cys)
|
|
|
NM_000500.9(CYP21A2):c.91C>T (p.Pro31Ser)
|
|
|
NM_000540.3(RYR1):c.15047_15048del (p.Gln5016fs)
|
rs1555806119
|
|
NM_000719.7(CACNA1C):c.2579G>C (p.Arg860Pro)
|
rs730880056
|
|
NM_000834.5(GRIN2B):c.1971G>C (p.Glu657Asp)
|
rs771157135
|
|
NM_000875.5(IGF1R):c.824G>A (p.Arg275His)
|
rs1250642880
|
|
NM_000891.3(KCNJ2):c.935G>A (p.Arg312His)
|
rs786205820
|
|
NM_001001548.3(CD36):c.511del (p.Gln171fs)
|
|
|
NM_001005273.3(CHD3):c.3233G>A (p.Arg1078Gln)
|
|
|
NM_001009944.3(PKD1):c.10051-1G>T
|
rs1245329669
|
|
NM_001009944.3(PKD1):c.11342ACG[3] (p.Asp3782_Val3783insAsp)
|
|
|
NM_001009944.3(PKD1):c.1307G>T (p.Cys436Phe)
|
rs2092660360
|
|
NM_001009944.3(PKD1):c.4379T>G (p.Val1460Gly)
|
rs2151797664
|
|
NM_001009944.3(PKD1):c.694T>C (p.Cys232Arg)
|
rs2151824152
|
|
NM_001009944.3(PKD1):c.7313T>C (p.Leu2438Pro)
|
|
|
NM_001009944.3(PKD1):c.7484G>A (p.Cys2495Tyr)
|
|
|
NM_001009944.3(PKD1):c.7535T>G (p.Leu2512Arg)
|
rs2151772458
|
|
NM_001009944.3(PKD1):c.8302G>T (p.Val2768Leu)
|
rs1456510041
|
|
NM_001032382.2(PQBP1):c.722AGC[1] (p.Gln242del)
|
rs1602333390
|
|
NM_001034853.2(RPGR):c.197A>G (p.Gln66Arg)
|
|
|
NM_001035.3(RYR2):c.11788G>C (p.Gly3930Arg)
|
rs1573911397
|
|
NM_001035.3(RYR2):c.12006G>A (p.Met4002Ile)
|
rs1695315646
|
|
NM_001035.3(RYR2):c.1244C>A (p.Thr415Lys)
|
rs1288202574
|
|
NM_001035.3(RYR2):c.12455T>A (p.Ile4152Asn)
|
rs1695358851
|
|
NM_001035.3(RYR2):c.12499G>A (p.Glu4167Lys)
|
rs1695363148
|
|
NM_001035.3(RYR2):c.12550_12552del (p.Glu4184del)
|
rs1558405887
|
|
NM_001035.3(RYR2):c.13823G>A (p.Arg4608Gln)
|
rs1553328170
|
|
NM_001035.3(RYR2):c.14079_14081del (p.Leu4694del)
|
rs1573997412
|
|
NM_001035.3(RYR2):c.14737C>T (p.His4913Tyr)
|
rs2102947618
|
|
NM_001035.3(RYR2):c.14769G>T (p.Met4923Ile)
|
rs1663792524
|
|
NM_001035.3(RYR2):c.14777T>C (p.Ile4926Thr)
|
rs1663793007
|
|
NM_001035.3(RYR2):c.344A>G (p.Tyr115Cys)
|
rs1558698334
|
|
NM_001035.3(RYR2):c.6749A>T (p.Asn2250Ile)
|
rs2148707460
|
|
NM_001035.3(RYR2):c.6899A>G (p.Asp2300Gly)
|
rs1681104142
|
|
NM_001035.3(RYR2):c.7202G>A (p.Arg2401His)
|
rs794728756
|
|
NM_001040142.2(SCN2A):c.1563_1564del (p.Asp521fs)
|
rs1553569739
|
|
NM_001040142.2(SCN2A):c.4096T>C (p.Cys1366Arg)
|
|
|
NM_001040142.2(SCN2A):c.4895G>T (p.Arg1632Met)
|
rs796053158
|
|
NM_001040142.2(SCN2A):c.788C>A (p.Ala263Glu)
|
rs387906686
|
|
NM_001040616.3(LINS1):c.1605G>A (p.Trp535Ter)
|
|
|
NM_001077350.3(NPRL3):c.469G>T (p.Glu157Ter)
|
rs1596522356
|
|
NM_001079668.3(NKX2-1):c.338_342del (p.Val113fs)
|
rs1594406926
|
|
NM_001079872.2(CUL4B):c.1444-1G>A
|
|
|
NM_001080517.3(SETD5):c.1931C>G (p.Ser644Ter)
|
rs1553625881
|
|
NM_001080517.3(SETD5):c.3631+1G>C
|
|
|
NM_001080517.3(SETD5):c.3855del (p.Ser1286fs)
|
|
|
NM_001080517.3(SETD5):c.897del (p.Ile299fs)
|
rs1575427610
|
|
NM_001085049.3(MRAS):c.67G>C (p.Gly23Arg)
|
rs1560171992
|
|
NM_001101.5(ACTB):c.217C>T (p.His73Tyr)
|
rs786205585
|
|
NM_001101.5(ACTB):c.527T>C (p.Leu176Pro)
|
rs1554329331
|
|
NM_001111125.3(IQSEC2):c.1591C>T (p.Arg531Ter)
|
rs1602284689
|
|
NM_001123385.2(BCOR):c.526C>T (p.Gln176Ter)
|
|
|
NM_001126108.2(SLC12A3):c.1844C>G (p.Ser615Trp)
|
rs779160677
|
|
NM_001126108.2(SLC12A3):c.719A>G (p.Glu240Gly)
|
rs2144689801
|
|
NM_001127222.2(CACNA1A):c.2067_2068delinsGGAG (p.Phe689fs)
|
rs1568514371
|
|
NM_001127222.2(CACNA1A):c.2602del (p.Ala868fs)
|
|
|
NM_001127392.3(MYRF):c.643del (p.His215fs)
|
rs2135782176
|
|
NM_001127644.2(GABRA1):c.371C>T (p.Pro124Leu)
|
|
|
NM_001134363.3(RBM20):c.1016G>A (p.Trp339Ter)
|
rs1554898987
|
|
NM_001134363.3(RBM20):c.1385del (p.Ala462fs)
|
rs2135050138
|
|
NM_001165963.4(SCN1A):c.1025C>A (p.Ala342Glu)
|
rs794726797
|
|
NM_001165963.4(SCN1A):c.4043T>C (p.Met1348Thr)
|
rs1559128483
|
|
NM_001165963.4(SCN1A):c.5173G>A (p.Gly1725Ser)
|
rs1689280236
|
|
NM_001170629.2(CHD8):c.1601+5G>A
|
rs2139531134
|
|
NM_001170629.2(CHD8):c.3299T>C (p.Leu1100Pro)
|
|
|
NM_001170629.2(CHD8):c.4611del (p.Lys1537_Val1538insTer)
|
rs1555314317
|
|
NM_001184880.2(PCDH19):c.1682del (p.Pro561fs)
|
rs1602635656
|
|
NM_001184880.2(PCDH19):c.798C>G (p.Asp266Glu)
|
rs369638371
|
|
NM_001190274.2(FBXO11):c.1507G>A (p.Gly503Arg)
|
|
|
NM_001197104.2(KMT2A):c.293del (p.Ser97_Ser98insTer)
|
|
|
NM_001198950.3(MYO16):c.1477C>T (p.Pro493Ser)
|
rs774060871
|
|
NM_001242896.3(DEPDC5):c.1277_1280del (p.Ala426fs)
|
rs1568963062
|
|
NM_001242896.3(DEPDC5):c.2694_2703delinsGGACA (p.Asp898fs)
|
rs1569083500
|
|
NM_001256317.3(TMPRSS3):c.771C>A (p.His257Gln)
|
rs2052560214
|
|
NM_001267550.2(TTN):c.102749del (p.Thr34250fs)
|
rs2154135490
|
|
NM_001267550.2(TTN):c.40626dup (p.Pro13543fs)
|
rs1553754743
|
|
NM_001267550.2(TTN):c.48963_48966del (p.Ser16321fs)
|
rs1553703310
|
|
NM_001267550.2(TTN):c.55541_55542del (p.Tyr18514fs)
|
rs1218695159
|
|
NM_001267550.2(TTN):c.57300_57303dup (p.Ile19102Ter)
|
rs1553659902
|
|
NM_001267550.2(TTN):c.64011C>A (p.Tyr21337Ter)
|
rs1553636324
|
|
NM_001267550.2(TTN):c.75546C>A (p.Tyr25182Ter)
|
rs1553603152
|
|
NM_001267550.2(TTN):c.84311_84312del (p.Ile28104fs)
|
rs1553565316
|
|
NM_001267550.2(TTN):c.94371del (p.Glu31458fs)
|
rs1553524807
|
|
NM_001271.4(CHD2):c.2765A>C (p.Glu922Ala)
|
|
|
NM_001271838.2(RSRC1):c.332del (p.Arg111fs)
|
|
|
NM_001277115.2(DNAH11):c.9587_9595dup (p.Thr3196_Asn3198dup)
|
rs2127985750
|
|
NM_001282531.3(ADNP):c.2213dup (p.Pro739fs)
|
|
|
NM_001287491.2(TET3):c.2684del (p.Ile895fs)
|
|
|
NM_001291415.2(KDM6A):c.3409G>A (p.Gly1137Arg)
|
rs2045472713
|
|
NM_001303052.2(MYT1L):c.557dup (p.Asp187fs)
|
rs2149110899
|
|
NM_001321120.2(TBX4):c.271A>G (p.Lys91Glu)
|
|
|
NM_001330260.2(SCN8A):c.109_137del (p.Pro37fs)
|
|
|
NM_001330260.2(SCN8A):c.2531G>A (p.Arg844Gln)
|
rs1476532344
|
|
NM_001330260.2(SCN8A):c.4017dup (p.Ile1340fs)
|
|
|
NM_001330260.2(SCN8A):c.4328A>G (p.Tyr1443Cys)
|
rs2138909536
|
|
NM_001330260.2(SCN8A):c.4436T>C (p.Ile1479Thr)
|
rs1938214529
|
|
NM_001349338.3(FOXP1):c.1729_1730delinsTGAA (p.Met577Ter)
|
|
|
NM_001356.5(DDX3X):c.828dup (p.Glu277fs)
|
|
|
NM_001365902.3(NFIX):c.1459del (p.Asp487fs)
|
|
|
NM_001374353.1(GLI2):c.1183-45del
|
|
|
NM_001374828.1(ARID1B):c.6617T>C (p.Leu2206Pro)
|
rs1794550318
|
|
NM_001375380.1(EBF3):c.461_462delinsCT (p.Leu154Pro)
|
rs1564927062
|
|
NM_001375524.1(TRRAP):c.3479G>T (p.Gly1160Val)
|
|
|
NM_001376.5(DYNC1H1):c.10016G>A (p.Arg3339His)
|
rs2152591288
|
|
NM_001377.3(DYNC2H1):c.12831G>T (p.Arg4277Ser)
|
rs372878677
|
|
NM_001377.3(DYNC2H1):c.9820A>C (p.Ser3274Arg)
|
rs371932985
|
|
NM_001406838.1(KCNQ1):c.478-12807del
|
rs1848316236
|
|
NM_001429.4(EP300):c.2064dup (p.Pro689fs)
|
rs1601617062
|
|
NM_001429.4(EP300):c.6121_6124del (p.Leu2041fs)
|
rs2059211409
|
|
NM_001451.3(FOXF1):c.1140A>C (p.Ter380Cys)
|
rs1567511932
|
|
NM_001478.5(B4GALNT1):c.1322C>A (p.Ala441Glu)
|
|
|
NM_001743.6(CALM2):c.400G>A (p.Asp134Asn)
|
rs398124650
|
|
NM_001844.5(COL2A1):c.609+4del
|
rs1555168965
|
|
NM_001845.6(COL4A1):c.4232G>A (p.Gly1411Glu)
|
|
|
NM_001846.4(COL4A2):c.1312G>A (p.Gly438Arg)
|
|
|
NM_001846.4(COL4A2):c.4937G>C (p.Cys1646Ser)
|
|
|
NM_001854.4(COL11A1):c.4547G>T (p.Gly1516Val)
|
rs1553193910
|
|
NM_001927.4(DES):c.736G>A (p.Glu246Lys)
|
|
|
NM_002226.5(JAG2):c.841G>T (p.Gly281Cys)
|
rs1377648342
|
|
NM_002397.5(MEF2C):c.17T>A (p.Ile6Asn)
|
rs2153222922
|
|
NM_002470.4(MYH3):c.1624C>A (p.Pro542Thr)
|
rs2142404938
|
|
NM_002470.4(MYH3):c.2512A>C (p.Lys838Gln)
|
rs2074256645
|
|
NM_002473.6(MYH9):c.1184A>C (p.Lys395Thr)
|
|
|
NM_002528.7(NTHL1):c.745A>T (p.Lys249Ter)
|
rs2150938327
|
|
NM_002585.4(PBX1):c.818G>A (p.Cys273Tyr)
|
rs1558020021
|
|
NM_002816.5(PSMD12):c.1084-1G>A
|
|
|
NM_002860.4(ALDH18A1):c.232G>A (p.Gly78Ser)
|
|
|
NM_003070.5(SMARCA2):c.1874C>T (p.Pro625Leu)
|
|
|
NM_003106.4(SOX2):c.70_89dup (p.Gly31fs)
|
|
|
NM_003108.4(SOX11):c.1148del (p.Gly383fs)
|
|
|
NM_003242.6(TGFBR2):c.1049T>A (p.Leu350Gln)
|
|
|
NM_003413.4(ZIC3):c.764G>C (p.Trp255Ser)
|
rs886041111
|
|
NM_003482.4(KMT2D):c.12735_12748del (p.Glu4245fs)
|
|
|
NM_003482.4(KMT2D):c.15460C>T (p.Arg5154Trp)
|
|
|
NM_003482.4(KMT2D):c.4214A>G (p.His1405Arg)
|
rs1565809463
|
|
NM_003722.5(TP63):c.679G>A (p.Ala227Thr)
|
|
|
NM_004004.6(GJB2):c.172C>T (p.Pro58Ser)
|
rs1064797090
|
|
NM_004115.4(FGF14):c.194-1G>C
|
|
|
NM_004187.5(KDM5C):c.1862A>G (p.Asp621Gly)
|
rs2146867887
|
|
NM_004281.4(BAG3):c.1418dup (p.Ala474fs)
|
rs1589632876
|
|
NM_004380.3(CREBBP):c.1094A>C (p.His365Pro)
|
|
|
NM_004380.3(CREBBP):c.1930G>C (p.Ala644Pro)
|
rs2141237064
|
|
NM_004380.3(CREBBP):c.2031del (p.Ile678fs)
|
rs1555483716
|
|
NM_004380.3(CREBBP):c.5186G>C (p.Cys1729Ser)
|
rs2051863859
|
|
NM_004387.4(NKX2-5):c.469T>G (p.Phe157Val)
|
|
|
NM_004463.3(FGD1):c.1328G>A (p.Arg443His)
|
rs137853266
|
|
NM_004523.4(KIF11):c.489del (p.Tyr164fs)
|
|
|
NM_004700.4(KCNQ4):c.859G>A (p.Gly287Ser)
|
rs137853969
|
|
NM_005027.4(PIK3R2):c.1056C>G (p.Phe352Leu)
|
rs1568636630
|
|
NM_005121.3(MED13):c.6047C>T (p.Pro2016Leu)
|
rs1567938478
|
|
NM_005324.5(H3-3B):c.376C>A (p.Gln126Lys)
|
|
|
NM_005618.4(DLL1):c.235T>G (p.Tyr79Asp)
|
|
|
NM_005660.3(SLC35A2):c.989T>C (p.Leu330Pro)
|
rs2063477376
|
|
NM_005859.5(PURA):c.605T>C (p.Leu202Pro)
|
rs1561793336
|
|
NM_006186.4(NR4A2):c.854G>A (p.Gly285Asp)
|
|
|
NM_006343.3(MERTK):c.1296+5G>A
|
rs1553454799
|
|
NM_006514.4(SCN10A):c.4201_4203del (p.Phe1401del)
|
rs1559414131
|
|
NM_006516.4(SLC2A1):c.424A>C (p.Met142Leu)
|
|
|
NM_006565.4(CTCF):c.1376A>C (p.Gln459Pro)
|
|
|
NM_006593.4(TBR1):c.691A>G (p.Arg231Gly)
|
|
|
NM_006734.4(HIVEP2):c.2367del (p.Gly791fs)
|
|
|
NM_006767.4(LZTR1):c.844C>T (p.Gln282Ter)
|
|
|
NM_006941.4(SOX10):c.953dup (p.Tyr318Ter)
|
|
|
NM_006950.3(SYN1):c.314del (p.Gly105fs)
|
rs1603078587
|
|
NM_007294.4(BRCA1):c.4988T>G (p.Met1663Arg)
|
rs80357205
|
|
NM_012154.5(AGO2):c.2389G>A (p.Val797Met)
|
|
|
NM_013275.6(ANKRD11):c.3201dup (p.Asp1068fs)
|
|
|
NM_014795.4(ZEB2):c.851G>A (p.Cys284Tyr)
|
rs1703306516
|
|
NM_014946.4(SPAST):c.1508G>A (p.Arg503Gln)
|
|
|
NM_015015.3(KDM4B):c.2935G>T (p.Glu979Ter)
|
|
|
NM_016219.5(MAN1B1):c.219G>T (p.Arg73Ser)
|
|
|
NM_016239.4(MYO15A):c.9061C>T (p.Arg3021Ter)
|
rs1567658710
|
|
NM_016333.4(SRRM2):c.1181dup (p.Ser395fs)
|
|
|
NM_016341.4(PLCE1):c.4301G>A (p.Arg1434Gln)
|
|
|
NM_018075.5(ANO10):c.101G>A (p.Trp34Ter)
|
|
|
NM_018139.3(DNAAF2):c.1807G>T (p.Glu603Ter)
|
|
|
NM_018255.4(ELP2):c.2084_2087del (p.Val695fs)
|
|
|
NM_018255.4(ELP2):c.2237del (p.Cys746fs)
|
|
|
NM_018263.6(ASXL2):c.1143-1G>T
|
|
|
NM_018486.3(HDAC8):c.796G>C (p.Ala266Pro)
|
rs1569317995
|
|
NM_018486.3(HDAC8):c.799G>A (p.Asp267Asn)
|
rs2047965357
|
|
NM_019616.4(F7):c.857T>C (p.Leu286Pro)
|
rs2142232799
|
|
NM_019616.4(F7):c.86C>A (p.Ala29Asp)
|
rs2036074360
|
|
NM_020778.5(ALPK3):c.432_435dup (p.Asp146fs)
|
|
|
NM_021956.5(GRIK2):c.808C>T (p.Arg270Ter)
|
rs1265340906
|
|
NM_022124.6(CDH23):c.2867A>G (p.Glu956Gly)
|
rs2132740263
|
|
NM_022454.4(SOX17):c.245A>G (p.Glu82Gly)
|
|
|
NM_022455.5(NSD1):c.6179T>A (p.Leu2060Gln)
|
|
|
NM_024079.5(ALG8):c.544C>T (p.Gln182Ter)
|
|
|
NM_024120.5(NDUFAF5):c.782T>C (p.Met261Thr)
|
|
|
NM_024757.5(EHMT1):c.3343T>G (p.Cys1115Gly)
|
rs1954891050
|
|
NM_030578.4(B9D2):c.168C>G (p.Tyr56Ter)
|
rs1568484575
|
|
NM_030632.3(ASXL3):c.4356del (p.Lys1452fs)
|
|
|
NM_030632.3(ASXL3):c.5414del (p.Pro1805fs)
|
|
|
NM_033380.3(COL4A5):c.2713G>C (p.Gly905Arg)
|
rs140753501
|
|
NM_033380.3(COL4A5):c.3073_3081del (p.Leu1025_Gly1027del)
|
|
|
NM_033380.3(COL4A5):c.4598G>T (p.Cys1533Phe)
|
|
|
NM_052844.4(DYNC2I2):c.1340_1341delinsTA (p.Arg447Leu)
|
rs1860309810
|
|
NM_052867.4(NALCN):c.3064A>G (p.Ile1022Val)
|
rs1555381108
|
|
NM_130839.5(UBE3A):c.1742A>G (p.Asn581Ser)
|
rs587784517
|
|
NM_130839.5(UBE3A):c.211G>T (p.Glu71Ter)
|
rs1207660411
|
|
NM_133433.4(NIPBL):c.868G>A (p.Gly290Ser)
|
rs1554014382
|
|
NM_144997.7(FLCN):c.1538+2T>C
|
rs2144831005
|
|
NM_145690.3(YWHAZ):c.689C>G (p.Ser230Trp)
|
rs1554612377
|
|
NM_152296.5(ATP1A3):c.2686T>C (p.Trp896Arg)
|
rs2145945797
|
|
NM_170675.5(MEIS2):c.916G>A (p.Glu306Lys)
|
rs2141389824
|
|
NM_170707.4(LMNA):c.611T>G (p.Leu204Arg)
|
rs1553265180
|
|
NM_172107.4(KCNQ2):c.430C>G (p.Arg144Gly)
|
rs1555873985
|
|
NM_172107.4(KCNQ2):c.670G>C (p.Val224Leu)
|
rs2145774625
|
|
NM_172107.4(KCNQ2):c.949G>A (p.Ala317Thr)
|
rs1600751236
|
|
NM_172362.3(KCNH1):c.596A>G (p.Lys199Arg)
|
rs1558570102
|
|
NM_177559.3(CSNK2A1):c.151_152delinsCC (p.Ser51Pro)
|
|
|
NM_177559.3(CSNK2A1):c.704G>T (p.Gly235Val)
|
|
|
NM_203475.3(PORCN):c.782T>C (p.Leu261Pro)
|
rs2147130188
|
|
NM_206933.4(USH2A):c.4945G>C (p.Gly1649Arg)
|
|
|
NM_206933.4(USH2A):c.5550T>A (p.Tyr1850Ter)
|
rs763831329
|
|