NM_017837.4(PIGV):c.1022C>A (p.Ala341Glu)
|
rs139073416
|
0.00014
|
NM_005559.4(LAMA1):c.8556+1G>A
|
rs764745270
|
0.00011
|
NM_001127178.3(PIGG):c.2005C>T (p.Arg669Cys)
|
rs372392424
|
0.00010
|
NM_001360.3(DHCR7):c.1A>G (p.Met1Val)
|
rs104886033
|
0.00004
|
NM_006907.4(PYCR1):c.535G>A (p.Ala179Thr)
|
rs139751598
|
0.00004
|
NM_014797.3(ZBTB24):c.958C>T (p.Arg320Ter)
|
rs387907104
|
0.00003
|
NM_006907.4(PYCR1):c.540+1G>A
|
rs752297179
|
0.00002
|
NM_000051.4(ATM):c.8549T>A (p.Leu2850Ter)
|
rs876658716
|
0.00001
|
NM_001042492.3(NF1):c.574C>T (p.Arg192Ter)
|
rs397514641
|
0.00001
|
NM_002834.5(PTPN11):c.188A>G (p.Tyr63Cys)
|
rs121918459
|
0.00001
|
NM_006907.4(PYCR1):c.722C>T (p.Ala241Val)
|
rs770505872
|
0.00001
|
NM_024884.3(L2HGDH):c.1003C>T (p.Arg335Ter)
|
rs387907013
|
0.00001
|
NM_176787.5(PIGN):c.1434+5G>A
|
rs369486176
|
0.00001
|
NM_198525.3(KIF7):c.434A>C (p.Tyr145Ser)
|
rs758361736
|
0.00001
|
NM_000030.3(AGXT):c.33dup (p.Lys12fs)
|
rs180177201
|
|
NM_000051.4(ATM):c.2521del (p.Asp841fs)
|
rs1175457710
|
|
NM_000141.5(FGFR2):c.1025G>C (p.Cys342Ser)
|
rs121918487
|
|
NM_000141.5(FGFR2):c.812G>T (p.Gly271Val)
|
rs1564919048
|
|
NM_000141.5(FGFR2):c.943G>T (p.Ala315Ser)
|
rs121918504
|
|
NM_000142.5(FGFR3):c.749C>G (p.Pro250Arg)
|
rs4647924
|
|
NM_000168.6(GLI3):c.4202del (p.Ser1401fs)
|
rs1583728165
|
|
NM_000435.3(NOTCH3):c.6626dup (p.Pro2210fs)
|
rs1599359239
|
|
NM_000489.6(ATRX):c.4558-3T>G
|
rs1602996115
|
|
NM_000489.6(ATRX):c.7205del (p.Ile2402fs)
|
rs1569513017
|
|
NM_000520.6(HEXA):c.1444G>T (p.Glu482Ter)
|
rs121907952
|
|
NM_000834.5(GRIN2B):c.1439_1446del (p.Leu480fs)
|
rs1949426932
|
|
NM_001024630.4(RUNX2):c.738C>T (p.Leu246=)
|
rs1582169095
|
|
NM_001080517.3(SETD5):c.1852C>T (p.Arg618Ter)
|
rs1218918142
|
|
NM_001083962.2(TCF4):c.1719_1722dup (p.Ala575fs)
|
rs1057518848
|
|
NM_001110792.2(MECP2):c.509C>T (p.Thr170Met)
|
rs28934906
|
|
NM_001110792.2(MECP2):c.844C>T (p.Arg282Ter)
|
rs61750240
|
|
NM_001110792.2(MECP2):c.952C>T (p.Arg318Cys)
|
rs28935468
|
|
NM_001127222.2(CACNA1A):c.4494CTT[2] (p.Phe1501del)
|
rs886041279
|
|
NM_001197104.2(KMT2A):c.10376del (p.Asn3459fs)
|
rs1591286581
|
|
NM_001197104.2(KMT2A):c.5621dup (p.Gln1875fs)
|
rs1555043939
|
|
NM_001220.5(CAMK2B):c.85C>T (p.Arg29Ter)
|
rs1554434435
|
|
NM_001348323.3(TRIP12):c.399dup (p.Pro134fs)
|
rs2060119917
|
|
NM_001356.5(DDX3X):c.1600C>G (p.Arg534Gly)
|
rs1555954284
|
|
NM_001356.5(DDX3X):c.1746del (p.Ser583fs)
|
rs2063933817
|
|
NM_001356.5(DDX3X):c.577G>T (p.Gly193Ter)
|
rs875989803
|
|
NM_001360.3(DHCR7):c.1A>C (p.Met1Leu)
|
rs104886033
|
|
NM_001374828.1(ARID1B):c.3277A>T (p.Lys1093Ter)
|
rs902091666
|
|
NM_001374828.1(ARID1B):c.3345G>A (p.Lys1115=)
|
rs1583451360
|
|
NM_001374828.1(ARID1B):c.3673C>T (p.Arg1225Ter)
|
rs387907141
|
|
NM_001374828.1(ARID1B):c.3692_3693del (p.Lys1231fs)
|
rs876657380
|
|
NM_001374828.1(ARID1B):c.3955dup (p.Gln1319fs)
|
rs1289067120
|
|
NM_001374828.1(ARID1B):c.6145C>T (p.Arg2049Ter)
|
rs1554237658
|
|
NM_001375524.1(TRRAP):c.3128C>T (p.Ala1043Val)
|
rs1790093579
|
|
NM_001429.4(EP300):c.3070_3071insT (p.Lys1024fs)
|
rs1601621506
|
|
NM_001429.4(EP300):c.3905dup (p.Glu1303fs)
|
rs2059152743
|
|
NM_001453.3(FOXC1):c.392C>G (p.Ser131Trp)
|
rs104893957
|
|
NM_001457.4(FLNB):c.4928C>T (p.Ala1643Val)
|
rs868820857
|
|
NM_001844.5(COL2A1):c.1129G>A (p.Ala377Thr)
|
rs1045330263
|
|
NM_001844.5(COL2A1):c.3714C>A (p.Tyr1238Ter)
|
rs1481453913
|
|
NM_001854.4(COL11A1):c.3816+5G>A
|
rs1057524237
|
|
NM_002834.5(PTPN11):c.1232C>T (p.Thr411Met)
|
rs121918467
|
|
NM_002834.5(PTPN11):c.184T>G (p.Tyr62Asp)
|
rs121918460
|
|
NM_002834.5(PTPN11):c.228G>C (p.Glu76Asp)
|
rs397507514
|
|
NM_002834.5(PTPN11):c.236A>G (p.Gln79Arg)
|
rs121918466
|
|
NM_002834.5(PTPN11):c.417G>C (p.Glu139Asp)
|
rs397507520
|
|
NM_002834.5(PTPN11):c.853T>C (p.Phe285Leu)
|
rs397507531
|
|
NM_002834.5(PTPN11):c.923A>G (p.Asn308Ser)
|
rs121918455
|
|
NM_002860.4(ALDH18A1):c.413G>T (p.Arg138Leu)
|
rs863225045
|
|
NM_002880.4(RAF1):c.770C>T (p.Ser257Leu)
|
rs80338796
|
|
NM_003011.4(SET):c.458C>A (p.Ser153Ter)
|
rs764645296
|
|
NM_003070.5(SMARCA2):c.2361C>A (p.Asn787Lys)
|
rs1343138502
|
|
NM_003073.5(SMARCB1):c.1085AGA[2] (p.Lys364del)
|
rs875989800
|
|
NM_003172.4(SURF1):c.845_846del (p.Ser282fs)
|
rs782316919
|
|
NM_003242.6(TGFBR2):c.1512G>A (p.Trp504Ter)
|
rs1575165272
|
|
NM_003482.4(KMT2D):c.13320del (p.Ile4440fs)
|
rs1845429019
|
|
NM_003482.4(KMT2D):c.15834del (p.Asp5279fs)
|
rs1592102369
|
|
NM_003482.4(KMT2D):c.5278A>T (p.Lys1760Ter)
|
rs1592142093
|
|
NM_003482.4(KMT2D):c.5869G>T (p.Glu1957Ter)
|
rs1592139573
|
|
NM_003482.4(KMT2D):c.8311C>T (p.Arg2771Ter)
|
rs1251778848
|
|
NM_003482.4(KMT2D):c.9223dup (p.Ser3075fs)
|
rs1592130816
|
|
NM_004247.4(EFTUD2):c.1414-2A>G
|
rs1597797917
|
|
NM_004273.5(CHST3):c.1254GAA[1] (p.Lys419del)
|
rs1589510055
|
|
NM_004333.6(BRAF):c.1406G>A (p.Gly469Glu)
|
rs121913355
|
|
NM_004333.6(BRAF):c.1787G>T (p.Gly596Val)
|
rs397507483
|
|
NM_004333.6(BRAF):c.1796C>G (p.Thr599Arg)
|
rs121913375
|
|
NM_004333.6(BRAF):c.1798G>C (p.Val600Leu)
|
rs121913378
|
|
NM_004333.6(BRAF):c.770A>G (p.Gln257Arg)
|
rs180177035
|
|
NM_004380.3(CREBBP):c.4206del (p.Ile1402fs)
|
rs1596812256
|
|
NM_004380.3(CREBBP):c.6436C>T (p.Gln2146Ter)
|
rs1596783639
|
|
NM_004423.4(DVL3):c.1715-2A>C
|
rs869025216
|
|
NM_004463.3(FGD1):c.1143_1145del (p.Leu382del)
|
rs1601954686
|
|
NM_004463.3(FGD1):c.1590T>A (p.Tyr530Ter)
|
rs1601953552
|
|
NM_004586.3(RPS6KA3):c.1959+2dup
|
rs1057518853
|
|
NM_004859.4(CLTC):c.2325_2327del (p.Ile776del)
|
rs1598233581
|
|
NM_004985.5(KRAS):c.108A>G (p.Ile36Met)
|
rs727503109
|
|
NM_005188.4(CBL):c.1111T>A (p.Tyr371Asn)
|
rs267606706
|
|
NM_005629.4(SLC6A8):c.942_944del (p.Phe315del)
|
rs2091467532
|
|
NM_005633.4(SOS1):c.1300G>A (p.Gly434Arg)
|
rs397517148
|
|
NM_005633.4(SOS1):c.1655G>A (p.Arg552Lys)
|
rs397517154
|
|
NM_005633.4(SOS1):c.1656G>C (p.Arg552Ser)
|
rs267607079
|
|
NM_005633.4(SOS1):c.1867T>A (p.Phe623Ile)
|
rs727505093
|
|
NM_005633.4(SOS1):c.806T>G (p.Met269Arg)
|
rs137852813
|
|
NM_006009.4(TUBA1A):c.1264C>T (p.Arg422Cys)
|
rs137853049
|
|
NM_006015.6(ARID1A):c.4003C>T (p.Arg1335Ter)
|
rs387906846
|
|
NM_006015.6(ARID1A):c.5940_6000del (p.Val1982fs)
|
rs2124144295
|
|
NM_006767.4(LZTR1):c.1785+1G>C
|
rs145594158
|
|
NM_006907.4(PYCR1):c.11G>T (p.Gly4Val)
|
rs1598358440
|
|
NM_006912.6(RIT1):c.170C>G (p.Ala57Gly)
|
rs672601334
|
|
NM_006912.6(RIT1):c.229G>A (p.Ala77Thr)
|
rs869025191
|
|
NM_006912.6(RIT1):c.245T>C (p.Phe82Ser)
|
rs868208063
|
|
NM_006912.6(RIT1):c.246T>A (p.Phe82Leu)
|
rs730881014
|
|
NM_006912.6(RIT1):c.247A>C (p.Thr83Pro)
|
rs869025195
|
|
NM_006912.6(RIT1):c.69A>C (p.Lys23Asn)
|
rs1557962794
|
|
NM_006912.6(RIT1):c.91G>C (p.Gly31Arg)
|
rs1571999498
|
|
NM_006940.6(SOX5):c.405dup (p.Lys136fs)
|
rs2096571436
|
|
NM_007327.4(GRIN1):c.1853G>T (p.Gly618Val)
|
rs1833614725
|
|
NM_012330.4(KAT6B):c.3172C>T (p.Arg1058Ter)
|
rs1554843815
|
|
NM_013275.6(ANKRD11):c.1372C>T (p.Arg458Ter)
|
rs900492387
|
|
NM_013275.6(ANKRD11):c.1621C>T (p.Gln541Ter)
|
rs1156815415
|
|
NM_013275.6(ANKRD11):c.2826_2829del (p.Arg942fs)
|
rs1597459077
|
|
NM_013275.6(ANKRD11):c.4270del (p.Ser1424fs)
|
rs1597452422
|
|
NM_013275.6(ANKRD11):c.6968_6975del (p.Ala2323fs)
|
rs1555525115
|
|
NM_014112.5(TRPS1):c.1630C>T (p.Arg544Ter)
|
rs886040971
|
|
NM_014112.5(TRPS1):c.2110del (p.Cys704fs)
|
rs1586431903
|
|
NM_014112.5(TRPS1):c.2725dup (p.Cys909fs)
|
rs1554617582
|
|
NM_014489.4(PGAP2):c.2T>G (p.Met1Arg)
|
rs1590215915
|
|
NM_014489.4(PGAP2):c.713G>C (p.Arg238Pro)
|
rs774843232
|
|
NM_014795.4(ZEB2):c.2083C>T (p.Arg695Ter)
|
rs137852981
|
|
NM_015338.6(ASXL1):c.1162_1163del (p.Val388fs)
|
rs886043994
|
|
NM_015338.6(ASXL1):c.2416_2417dup (p.Val807fs)
|
rs1600588239
|
|
NM_015443.4(KANSL1):c.1849-4661_1895del
|
|
|
NM_017780.4(CHD7):c.2442+5G>C
|
rs387906271
|
|
NM_017780.4(CHD7):c.2520G>A (p.Trp840Ter)
|
rs1586379156
|
|
NM_017780.4(CHD7):c.5458C>T (p.Arg1820Ter)
|
rs587783446
|
|
NM_017780.4(CHD7):c.635del (p.Gln212fs)
|
rs1586249038
|
|
NM_018136.5(ASPM):c.2938C>T (p.Arg980Ter)
|
rs199422151
|
|
NM_018136.5(ASPM):c.2967G>A (p.Trp989Ter)
|
rs199422152
|
|
NM_018136.5(ASPM):c.5863dup (p.Gln1955fs)
|
rs1571600860
|
|
NM_018136.5(ASPM):c.7782_7783del (p.Lys2595fs)
|
rs199422173
|
|
NM_018136.5(ASPM):c.8200_8201del (p.Asn2734fs)
|
rs1558328287
|
|
NM_018451.5(CENPJ):c.18del (p.Ser7fs)
|
rs199422202
|
|
NM_018486.3(HDAC8):c.1112-4_1116del
|
rs1602491207
|
|
NM_018486.3(HDAC8):c.496C>T (p.Arg166Ter)
|
rs886041936
|
|
NM_019597.5(HNRNPH2):c.616C>T (p.Arg206Trp)
|
rs886039763
|
|
NM_020699.4(GATAD2B):c.365C>G (p.Ser122Ter)
|
rs1674609315
|
|
NM_020706.2(SCAF4):c.571C>T (p.Gln191Ter)
|
rs2050538888
|
|
NM_022455.5(NSD1):c.6050G>A (p.Arg2017Gln)
|
rs587784177
|
|
NM_024757.5(EHMT1):c.1647+2T>C
|
rs1057518913
|
|
NM_024757.5(EHMT1):c.3443del (p.Pro1148fs)
|
rs1588875719
|
|
NM_030665.4(RAI1):c.2966_2969del (p.Lys989fs)
|
rs1135401792
|
|
NM_032634.4(PIGO):c.2397A>C (p.Gln799His)
|
rs1587162510
|
|
NM_033517.1(SHANK3):c.3679dup (p.Ala1227fs)
|
rs762292772
|
|
NM_057175.5(NAA15):c.1446dup (p.Gln483fs)
|
rs1748100957
|
|
NM_057175.5(NAA15):c.1624_1627delinsAT (p.Leu542fs)
|
rs2110959790
|
|
NM_080680.3(COL11A2):c.4465G>A (p.Gly1489Ser)
|
rs1583287711
|
|
NM_133433.4(NIPBL):c.7948dup (p.Ile2650fs)
|
rs2149759954
|
|
NM_138927.4(SON):c.6022C>T (p.Arg2008Ter)
|
rs1555899560
|
|
NM_170707.4(LMNA):c.1357C>T (p.Arg453Trp)
|
rs58932704
|
|
NM_176787.5(PIGN):c.1660G>A (p.Gly554Arg)
|
rs747283967
|
|
NM_181458.4(PAX3):c.748dup (p.Glu250fs)
|
rs1574661904
|
|