NM_014625.4(NPHS2):c.686G>A (p.Arg229Gln)
|
rs61747728
|
0.02796
|
NM_025152.3(NUBPL):c.815-27T>C
|
rs118161496
|
0.00348
|
NM_000666.3(ACY1):c.1057C>T (p.Arg353Cys)
|
rs121912698
|
0.00260
|
NM_018706.7(DHTKD1):c.2185G>A (p.Gly729Arg)
|
rs117225135
|
0.00190
|
NM_006361.6(HOXB13):c.251G>A (p.Gly84Glu)
|
rs138213197
|
0.00160
|
NM_213607.3(CCDC103):c.461A>C (p.His154Pro)
|
rs145457535
|
0.00123
|
NM_007254.4(PNKP):c.1029+2T>C
|
rs199919568
|
0.00115
|
NM_001363711.2(DUOX2):c.3155G>A (p.Cys1052Tyr)
|
rs76343591
|
0.00109
|
NM_000053.4(ATP7B):c.2605G>A (p.Gly869Arg)
|
rs191312027
|
0.00101
|
NM_000275.3(OCA2):c.1103C>T (p.Ala368Val)
|
rs61745150
|
0.00086
|
NM_018082.6(POLR3B):c.1244T>C (p.Met415Thr)
|
rs199504211
|
0.00069
|
NM_007272.3(CTRC):c.217G>A (p.Ala73Thr)
|
rs515726209
|
0.00067
|
NM_001609.4(ACADSB):c.443C>T (p.Thr148Ile)
|
rs58639322
|
0.00060
|
NM_012144.4(DNAI1):c.389-1G>C
|
rs200488444
|
0.00046
|
NM_001276345.2(TNNT2):c.862C>T (p.Arg288Cys)
|
rs121964857
|
0.00044
|
NM_000492.4(CFTR):c.2249C>T (p.Pro750Leu)
|
rs140455771
|
0.00041
|
NM_014783.6(ARHGAP11A):c.2370_2371del (p.Thr790_Cys791insTer)
|
rs555387669
|
0.00041
|
NM_000492.4(CFTR):c.1865G>A (p.Gly622Asp)
|
rs121908759
|
0.00039
|
NM_000492.4(CFTR):c.3205G>A (p.Gly1069Arg)
|
rs200321110
|
0.00035
|
NM_000463.3(UGT1A1):c.674T>G (p.Val225Gly)
|
rs35003977
|
0.00034
|
NM_000492.4(CFTR):c.1327G>T (p.Asp443Tyr)
|
rs147422190
|
0.00034
|
NM_002693.3(POLG):c.2890C>T (p.Arg964Cys)
|
rs201477273
|
0.00033
|
NM_024301.5(FKRP):c.898G>A (p.Val300Met)
|
rs563033008
|
0.00031
|
NM_001077418.3(TMEM231):c.139+47C>A
|
rs200063331
|
0.00029
|
NM_005502.4(ABCA1):c.5398A>C (p.Asn1800His)
|
rs146292819
|
0.00029
|
NM_014239.4(EIF2B2):c.599G>T (p.Gly200Val)
|
rs113994012
|
0.00029
|
NM_024120.5(NDUFAF5):c.327G>C (p.Lys109Asn)
|
rs150613320
|
0.00028
|
NM_000071.3(CBS):c.1330G>A (p.Asp444Asn)
|
rs28934891
|
0.00026
|
NM_004287.5(GOSR2):c.336+1G>A
|
rs141554661
|
0.00026
|
NM_000053.4(ATP7B):c.122A>G (p.Asn41Ser)
|
rs201738967
|
0.00025
|
NM_001277115.2(DNAH11):c.11804C>T (p.Pro3935Leu)
|
rs72658814
|
0.00025
|
NM_003793.4(CTSF):c.1046-2A>C
|
rs141915593
|
0.00025
|
NM_001363711.2(DUOX2):c.1462G>A (p.Gly488Arg)
|
rs191759494
|
0.00024
|
NM_002693.3(POLG):c.2246T>C (p.Phe749Ser)
|
rs202037973
|
0.00024
|
NM_002769.5(PRSS1):c.623G>C (p.Gly208Ala)
|
rs189270875
|
0.00024
|
NM_001048174.2(MUTYH):c.737G>A (p.Arg246Gln)
|
rs149866955
|
0.00023
|
NM_199069.2(NDUFAF3):c.188dup (p.Tyr63Ter)
|
rs756339822
|
0.00023
|
NM_000369.5(TSHR):c.202C>T (p.Pro68Ser)
|
rs142063461
|
0.00022
|
NM_016938.5(EFEMP2):c.409A>T (p.Ser137Cys)
|
rs1306393544
|
0.00022
|
NM_000277.3(PAH):c.506G>A (p.Arg169His)
|
rs199475679
|
0.00020
|
NM_001378615.1(CC2D2A):c.4667A>T (p.Asp1556Val)
|
rs201502401
|
0.00020
|
NM_001089.3(ABCA3):c.838C>T (p.Arg280Cys)
|
rs201299260
|
0.00019
|
NM_003560.4(PLA2G6):c.386T>C (p.Leu129Pro)
|
rs374746113
|
0.00019
|
NM_016180.5(SLC45A2):c.606G>C (p.Trp202Cys)
|
rs146802593
|
0.00019
|
NM_025152.3(NUBPL):c.166G>A (p.Gly56Arg)
|
rs200401432
|
0.00017
|
NM_000350.3(ABCA4):c.4577C>T (p.Thr1526Met)
|
rs61750152
|
0.00016
|
NM_000492.4(CFTR):c.1853T>C (p.Ile618Thr)
|
rs139468767
|
0.00016
|
NM_000542.5(SFTPB):c.706C>T (p.Arg236Cys)
|
rs137853202
|
0.00016
|
NM_001048174.2(MUTYH):c.616G>A (p.Val206Met)
|
rs200165598
|
0.00016
|
NM_001277115.2(DNAH11):c.6506C>T (p.Ser2169Leu)
|
rs373946181
|
0.00016
|
NM_020247.5(COQ8A):c.1665G>A (p.Met555Ile)
|
rs199874519
|
0.00016
|
NM_018972.4(GDAP1):c.692C>T (p.Pro231Leu)
|
rs121908114
|
0.00015
|
NM_022132.5(MCCC2):c.1423G>A (p.Gly475Arg)
|
rs148773718
|
0.00015
|
NM_005548.3(KARS1):c.599C>T (p.Pro200Leu)
|
rs201650281
|
0.00013
|
NM_006005.3(WFS1):c.124C>T (p.Arg42Ter)
|
rs71530923
|
0.00013
|
NM_001298.3(CNGA3):c.1669G>A (p.Gly557Arg)
|
rs104893615
|
0.00012
|
NM_004092.4(ECHS1):c.518C>T (p.Ala173Val)
|
rs150321966
|
0.00012
|
NM_000218.3(KCNQ1):c.671C>T (p.Thr224Met)
|
rs199472706
|
0.00011
|
NM_000492.4(CFTR):c.1001G>A (p.Arg334Gln)
|
rs397508137
|
0.00011
|
NM_000492.4(CFTR):c.772A>G (p.Arg258Gly)
|
rs191456345
|
0.00011
|
NM_000520.6(HEXA):c.1305C>T (p.Tyr435=)
|
rs587779406
|
0.00011
|
NM_001079866.2(BCS1L):c.205C>T (p.Arg69Cys)
|
rs377025174
|
0.00011
|
NM_001369.3(DNAH5):c.7502G>C (p.Arg2501Pro)
|
rs78853309
|
0.00011
|
NM_006567.5(FARS2):c.1082C>T (p.Pro361Leu)
|
rs751459058
|
0.00011
|
NM_014780.5(CUL7):c.3041T>G (p.Leu1014Arg)
|
rs61752334
|
0.00011
|
NM_016239.4(MYO15A):c.8183G>A (p.Arg2728His)
|
rs184435771
|
0.00011
|
NM_020442.6(VARS2):c.511C>T (p.Arg171Trp)
|
rs139515727
|
0.00011
|
NM_052988.5(CDK10):c.870_871del (p.Trp291fs)
|
rs766960979
|
0.00011
|
NM_000243.3(MEFV):c.2282G>A (p.Arg761His)
|
rs104895097
|
0.00010
|
NM_000540.3(RYR1):c.10348-6C>G
|
rs193922837
|
0.00010
|
NM_001003722.2(GLE1):c.1706G>A (p.Arg569His)
|
rs121434407
|
0.00010
|
NM_001267550.2(TTN):c.12587C>A (p.Ser4196Ter)
|
rs370912401
|
0.00010
|
NM_017802.4(DNAAF5):c.1499G>T (p.Cys500Phe)
|
rs144405450
|
0.00010
|
NM_032756.4(HPDL):c.859T>C (p.Tyr287His)
|
rs777360560
|
0.00010
|
NM_000132.4(F8):c.6089G>A (p.Ser2030Asn)
|
rs369414658
|
0.00009
|
NM_000257.4(MYH7):c.2606G>A (p.Arg869His)
|
rs202141173
|
0.00009
|
NM_000492.4(CFTR):c.2657+2_2657+3insA
|
rs397508414
|
0.00009
|
NM_001358921.2(COQ2):c.533A>G (p.Asn178Ser)
|
rs121918232
|
0.00009
|
NM_001370658.1(BTD):c.1395C>G (p.His465Gln)
|
rs201604102
|
0.00009
|
NM_007194.4(CHEK2):c.349A>G (p.Arg117Gly)
|
rs28909982
|
0.00009
|
NM_022089.4(ATP13A2):c.477+2T>G
|
rs758014228
|
0.00009
|
NM_022436.3(ABCG5):c.1166G>A (p.Arg389His)
|
rs119480069
|
0.00009
|
NM_177550.5(SLC13A5):c.655G>A (p.Gly219Arg)
|
rs144332569
|
0.00009
|
NM_000152.5(GAA):c.1552-3C>G
|
rs375470378
|
0.00008
|
NM_001232.4(CASQ2):c.748C>T (p.Arg250Cys)
|
rs151115064
|
0.00008
|
NM_001283009.1(RTEL1):c.3791G>A (p.Arg1264His)
|
rs201540674
|
0.00008
|
NM_001369.3(DNAH5):c.8387A>G (p.Asp2796Gly)
|
rs727502974
|
0.00008
|
NM_002528.7(NTHL1):c.526-1G>A
|
rs779757251
|
0.00008
|
NM_004006.3(DMD):c.1724T>C (p.Leu575Pro)
|
rs370644567
|
0.00008
|
NM_002662.5(PLD1):c.2531A>G (p.His844Arg)
|
rs556433569
|
0.00007
|
NM_005502.4(ABCA1):c.4037G>A (p.Gly1346Glu)
|
rs762770081
|
0.00007
|
NM_005591.4(MRE11):c.1960_1979dup (p.Lys661fs)
|
rs587781442
|
0.00007
|
NM_016035.5(COQ4):c.202G>C (p.Asp68His)
|
rs758522459
|
0.00007
|
NM_018668.5(VPS33B):c.403G>A (p.Asp135Asn)
|
rs369726600
|
0.00007
|
NM_020745.4(AARS2):c.595C>T (p.Arg199Cys)
|
rs200105202
|
0.00007
|
NM_000057.4(BLM):c.3558+1G>T
|
rs148969222
|
0.00006
|
NM_000077.5(CDKN2A):c.146T>C (p.Ile49Thr)
|
rs199907548
|
0.00006
|
NM_000136.3(FANCC):c.843+5G>A
|
rs369082921
|
0.00006
|
NM_000237.3(LPL):c.292G>A (p.Ala98Thr)
|
rs145657341
|
0.00006
|
NM_000334.4(SCN4A):c.2794G>A (p.Asp932Asn)
|
rs199656266
|
0.00006
|
NM_000466.3(PEX1):c.2926+1G>A
|
rs267608179
|
0.00006
|
NM_000492.4(CFTR):c.169T>C (p.Trp57Arg)
|
rs397508272
|
0.00006
|
NM_000492.4(CFTR):c.2856G>C (p.Met952Ile)
|
rs151048781
|
0.00006
|
NM_000492.4(CFTR):c.571T>G (p.Phe191Val)
|
rs141482808
|
0.00006
|
NM_001083961.2(WDR62):c.1480G>A (p.Gly494Arg)
|
rs587784543
|
0.00006
|
NM_001182.5(ALDH7A1):c.529G>C (p.Ala177Pro)
|
rs140102105
|
0.00006
|
NM_001283.5(AP1S1):c.291+2T>A
|
rs1310110289
|
0.00006
|
NM_001365536.1(SCN9A):c.2517G>T (p.Leu839=)
|
rs766730954
|
0.00006
|
NM_002693.3(POLG):c.3287G>A (p.Arg1096His)
|
rs368435864
|
0.00006
|
NM_005228.5(EGFR):c.2369C>T (p.Thr790Met)
|
rs121434569
|
0.00006
|
NM_005431.2(XRCC2):c.643C>T (p.Arg215Ter)
|
rs143153871
|
0.00006
|
NM_006767.4(LZTR1):c.1396C>T (p.Arg466Trp)
|
rs550922200
|
0.00006
|
NM_006767.4(LZTR1):c.1397G>A (p.Arg466Gln)
|
rs587777180
|
0.00006
|
NM_006767.4(LZTR1):c.2062C>T (p.Arg688Cys)
|
rs587777178
|
0.00006
|
NM_006907.4(PYCR1):c.752G>A (p.Arg251His)
|
rs121918378
|
0.00006
|
NM_015443.4(KANSL1):c.868C>T (p.Arg290Ter)
|
rs149830411
|
0.00006
|
NM_018122.5(DARS2):c.396+2T>G
|
rs759123043
|
0.00006
|
NM_032043.3(BRIP1):c.3196del (p.Ser1066fs)
|
rs730881645
|
0.00006
|
NM_032043.3(BRIP1):c.918+1G>A
|
rs587781655
|
0.00006
|
NM_139284.3(LGI4):c.61A>T (p.Arg21Ter)
|
rs140614229
|
0.00006
|
NM_152743.4(BRAT1):c.283-2A>T
|
rs147005619
|
0.00006
|
NM_181426.2(CCDC39):c.1874G>T (p.Ser625Ile)
|
rs769223754
|
0.00006
|
NM_000053.4(ATP7B):c.1285+5G>T
|
rs370579582
|
0.00005
|
NM_000256.3(MYBPC3):c.1790G>A (p.Arg597Gln)
|
rs727503195
|
0.00005
|
NM_000256.3(MYBPC3):c.2429G>A (p.Arg810His)
|
rs375675796
|
0.00005
|
NM_000492.4(CFTR):c.3409A>G (p.Met1137Val)
|
rs397508553
|
0.00005
|
NM_001370658.1(BTD):c.383G>A (p.Arg128His)
|
rs367902696
|
0.00005
|
NM_002861.5(PCYT2):c.1075C>T (p.Arg359Ter)
|
rs377278120
|
0.00005
|
NM_004279.3(PMPCB):c.601G>C (p.Ala201Pro)
|
rs146343535
|
0.00005
|
NM_006767.4(LZTR1):c.2387T>C (p.Ile796Thr)
|
rs141672122
|
0.00005
|
NM_007194.4(CHEK2):c.433C>T (p.Arg145Trp)
|
rs137853007
|
0.00005
|
NM_017807.4(OSGEP):c.838C>T (p.Arg280Cys)
|
rs374322839
|
0.00005
|
NM_021971.4(GMPPB):c.988G>A (p.Val330Ile)
|
rs199922550
|
0.00005
|
NM_153033.5(KCTD7):c.190A>G (p.Thr64Ala)
|
rs201296399
|
0.00005
|
NM_176787.5(PIGN):c.932T>G (p.Leu311Trp)
|
rs746882521
|
0.00005
|
NM_000051.4(ATM):c.8147T>C (p.Val2716Ala)
|
rs587782652
|
0.00004
|
NM_000053.4(ATP7B):c.3443T>C (p.Ile1148Thr)
|
rs60431989
|
0.00004
|
NM_000057.4(BLM):c.2432A>G (p.Tyr811Cys)
|
rs145029382
|
0.00004
|
NM_000136.3(FANCC):c.521+1G>A
|
rs145394391
|
0.00004
|
NM_000237.3(LPL):c.589C>T (p.Arg197Cys)
|
rs768128481
|
0.00004
|
NM_000237.3(LPL):c.662T>C (p.Ile221Thr)
|
rs118204061
|
0.00004
|
NM_000335.5(SCN5A):c.4874G>A (p.Arg1625His)
|
rs199473283
|
0.00004
|
NM_000363.5(TNNI3):c.484C>T (p.Arg162Trp)
|
rs368861241
|
0.00004
|
NM_000369.5(TSHR):c.1342G>A (p.Val448Ile)
|
rs201889708
|
0.00004
|
NM_000492.4(CFTR):c.3874-4522A>G
|
rs895394181
|
0.00004
|
NM_000527.5(LDLR):c.1444G>A (p.Asp482Asn)
|
rs139624145
|
0.00004
|
NM_000527.5(LDLR):c.718G>A (p.Glu240Lys)
|
rs768563000
|
0.00004
|
NM_000535.7(PMS2):c.11C>G (p.Ala4Gly)
|
rs745361721
|
0.00004
|
NM_000551.4(VHL):c.562C>G (p.Leu188Val)
|
rs5030824
|
0.00004
|
NM_001005242.3(PKP2):c.2352C>T (p.Gly784=)
|
rs727504509
|
0.00004
|
NM_001048174.2(MUTYH):c.421-2A>C
|
rs786203161
|
0.00004
|
NM_001048174.2(MUTYH):c.954G>A (p.Ser318=)
|
rs372673338
|
0.00004
|
NM_001182.5(ALDH7A1):c.834G>A (p.Val278=)
|
rs201948406
|
0.00004
|
NM_001287.6(CLCN7):c.857G>A (p.Arg286Gln)
|
rs760956030
|
0.00004
|
NM_001367624.2(ZNF469):c.10324del (p.Arg3442fs)
|
rs756543273
|
0.00004
|
NM_001369.3(DNAH5):c.10615C>T (p.Arg3539Cys)
|
rs1304504006
|
0.00004
|
NM_001369.3(DNAH5):c.4116G>C (p.Gln1372His)
|
rs139463637
|
0.00004
|
NM_001371904.1(APOA5):c.823C>T (p.Gln275Ter)
|
rs149808404
|
0.00004
|
NM_001378609.3(OTOGL):c.3213+1G>A
|
rs370730786
|
0.00004
|
NM_001698.3(AUH):c.824C>T (p.Ala275Val)
|
rs748318386
|
0.00004
|
NM_001909.5(CTSD):c.299C>T (p.Ser100Phe)
|
rs796052407
|
0.00004
|
NM_002439.5(MSH3):c.1341-1G>T
|
rs61754780
|
0.00004
|
NM_002528.7(NTHL1):c.782G>A (p.Trp261Ter)
|
rs753029097
|
0.00004
|
NM_003579.4(RAD54L):c.1624C>T (p.Arg542Cys)
|
rs374567435
|
0.00004
|
NM_004168.4(SDHA):c.1663+3G>C
|
rs751904543
|
0.00004
|
NM_004168.4(SDHA):c.563G>A (p.Arg188Gln)
|
rs139881415
|
0.00004
|
NM_004279.3(PMPCB):c.523C>T (p.Arg175Cys)
|
rs145596167
|
0.00004
|
NM_004826.4(ECEL1):c.494T>C (p.Leu165Pro)
|
rs765305996
|
0.00004
|
NM_005732.4(RAD50):c.3G>A (p.Met1Ile)
|
rs377260382
|
0.00004
|
NM_006767.4(LZTR1):c.1943-1G>A
|
rs1189015572
|
0.00004
|
NM_012472.6(DNAAF11):c.2T>A (p.Met1Lys)
|
rs377278570
|
0.00004
|
NM_014846.4(WASHC5):c.2489G>A (p.Arg830Gln)
|
rs749703625
|
0.00004
|
NM_018055.5(NODAL):c.778G>A (p.Gly260Arg)
|
rs121909283
|
0.00004
|
NM_018116.4(MSTO1):c.887_888del (p.Leu296fs)
|
rs752022363
|
0.00004
|
NM_022773.4(LMF1):c.1323del (p.Phe441fs)
|
rs760536168
|
0.00004
|
NM_022773.4(LMF1):c.895C>T (p.Gln299Ter)
|
rs554054538
|
0.00004
|
NM_024417.5(FDXR):c.916C>T (p.Arg306Cys)
|
rs752143061
|
0.00004
|
NM_032043.3(BRIP1):c.1045G>C (p.Ala349Pro)
|
rs149364097
|
0.00004
|
NM_138370.3(PKDCC):c.639+1G>T
|
rs763243200
|
0.00004
|
NM_181426.2(CCDC39):c.2T>C (p.Met1Thr)
|
rs758493174
|
0.00004
|
NM_198407.2(GHSR):c.611C>A (p.Ala204Glu)
|
rs121917883
|
0.00004
|
NM_000018.4(ACADVL):c.1376G>A (p.Arg459Gln)
|
rs751995154
|
0.00003
|
NM_000057.4(BLM):c.3210+2del
|
rs587779886
|
0.00003
|
NM_000057.4(BLM):c.98+1G>C
|
rs750293380
|
0.00003
|
NM_000059.4(BRCA2):c.8188G>C (p.Ala2730Pro)
|
rs80359066
|
0.00003
|
NM_000077.5(CDKN2A):c.206A>G (p.Glu69Gly)
|
rs372670098
|
0.00003
|
NM_000153.4(GALC):c.868C>T (p.Arg290Cys)
|
rs780750448
|
0.00003
|
NM_000157.4(GBA1):c.437C>T (p.Ser146Leu)
|
rs758447515
|
0.00003
|
NM_000251.3(MSH2):c.1862G>T (p.Arg621Leu)
|
rs759263820
|
0.00003
|
NM_000257.4(MYH7):c.2081G>A (p.Arg694His)
|
rs886039030
|
0.00003
|
NM_000257.4(MYH7):c.2572C>T (p.Arg858Cys)
|
rs2754158
|
0.00003
|
NM_000257.4(MYH7):c.3133C>T (p.Arg1045Cys)
|
rs45611033
|
0.00003
|
NM_000257.4(MYH7):c.427C>T (p.Arg143Trp)
|
rs727503278
|
0.00003
|
NM_000257.4(MYH7):c.611G>A (p.Arg204His)
|
rs397516260
|
0.00003
|
NM_000335.5(SCN5A):c.1127G>A (p.Arg376His)
|
rs199473101
|
0.00003
|
NM_000335.5(SCN5A):c.393-1C>T
|
rs759235726
|
0.00003
|
NM_000335.5(SCN5A):c.3953G>T (p.Gly1318Val)
|
rs199473220
|
0.00003
|
NM_000400.4(ERCC2):c.2047C>T (p.Arg683Trp)
|
rs41556519
|
0.00003
|
NM_000465.4(BARD1):c.2242G>T (p.Glu748Ter)
|
rs879253880
|
0.00003
|
NM_000466.3(PEX1):c.2966T>C (p.Ile989Thr)
|
rs61750427
|
0.00003
|
NM_000492.4(CFTR):c.1125A>C (p.Leu375Phe)
|
rs73215912
|
0.00003
|
NM_000492.4(CFTR):c.14C>T (p.Pro5Leu)
|
rs193922501
|
0.00003
|
NM_000492.4(CFTR):c.2939T>A (p.Ile980Lys)
|
rs397508463
|
0.00003
|
NM_000527.5(LDLR):c.1061A>T (p.Asp354Val)
|
rs755449669
|
0.00003
|
NM_000527.5(LDLR):c.1474G>C (p.Asp492His)
|
rs373646964
|
0.00003
|
NM_000527.5(LDLR):c.514G>A (p.Asp172Asn)
|
rs879254554
|
0.00003
|
NM_000535.7(PMS2):c.2113G>A (p.Glu705Lys)
|
rs267608161
|
0.00003
|
NM_000540.3(RYR1):c.14928C>G (p.Phe4976Leu)
|
rs368874586
|
0.00003
|
NM_000687.4(AHCY):c.257A>G (p.Asp86Gly)
|
rs773162208
|
0.00003
|
NM_000748.3(CHRNB2):c.139C>T (p.Arg47Cys)
|
rs746480833
|
0.00003
|
NM_001002294.3(FMO3):c.1499G>A (p.Arg500Gln)
|
rs183949390
|
0.00003
|
NM_001048174.2(MUTYH):c.638G>A (p.Arg213Gln)
|
rs1060501346
|
0.00003
|
NM_001182.5(ALDH7A1):c.1292C>T (p.Pro431Leu)
|
rs151107837
|
0.00003
|
NM_001232.4(CASQ2):c.1097T>C (p.Leu366Pro)
|
rs762153545
|
0.00003
|
NM_001232.4(CASQ2):c.923C>T (p.Pro308Leu)
|
rs139228801
|
0.00003
|
NM_001267550.2(TTN):c.40963G>T (p.Glu13655Ter)
|
rs727504198
|
0.00003
|
NM_001267550.2(TTN):c.6555_6556insTGTAAGGAAACAGACA (p.Lys2186fs)
|
rs587780494
|
0.00003
|
NM_001267550.2(TTN):c.89197+1G>C
|
rs1131691873
|
0.00003
|
NM_001267550.2(TTN):c.9610C>T (p.Arg3204Ter)
|
rs757836789
|
0.00003
|
NM_001277115.2(DNAH11):c.983-1G>T
|
rs777285019
|
0.00003
|
NM_001370658.1(BTD):c.908A>G (p.His303Arg)
|
rs397507176
|
0.00003
|
NM_001371596.2(MFSD8):c.1444C>T (p.Arg482Ter)
|
rs724159971
|
0.00003
|
NM_001399.5(EDA):c.1094T>C (p.Val365Ala)
|
rs397516654
|
0.00003
|
NM_001519.4(BRF1):c.776C>T (p.Thr259Met)
|
rs373957300
|
0.00003
|
NM_001851.6(COL9A1):c.876+1G>C
|
rs202232444
|
0.00003
|
NM_002439.5(MSH3):c.1764-1G>A
|
rs367544716
|
0.00003
|
NM_002439.5(MSH3):c.2436-1G>A
|
rs200639359
|
0.00003
|
NM_002485.5(NBN):c.897-2A>T
|
rs864622090
|
0.00003
|
NM_002693.3(POLG):c.3151G>A (p.Gly1051Arg)
|
rs121918049
|
0.00003
|
NM_002834.5(PTPN11):c.1282G>A (p.Val428Met)
|
rs397507536
|
0.00003
|
NM_003000.3(SDHB):c.650G>A (p.Arg217His)
|
rs747518441
|
0.00003
|
NM_003001.5(SDHC):c.377A>G (p.Tyr126Cys)
|
rs898854295
|
0.00003
|
NM_004168.4(SDHA):c.1741G>A (p.Gly581Arg)
|
rs771111180
|
0.00003
|
NM_004415.4(DSP):c.7123G>A (p.Gly2375Arg)
|
rs376923069
|
0.00003
|
NM_005340.7(HINT1):c.278G>A (p.Gly93Asp)
|
rs397514493
|
0.00003
|
NM_006767.4(LZTR1):c.842C>T (p.Pro281Leu)
|
rs1390048261
|
0.00003
|
NM_007194.4(CHEK2):c.707T>C (p.Leu236Pro)
|
rs587782471
|
0.00003
|
NM_007272.3(CTRC):c.649G>A (p.Gly217Ser)
|
rs202058123
|
0.00003
|
NM_007325.5(GRIA3):c.2T>C (p.Met1Thr)
|
rs752728469
|
0.00003
|
NM_012144.4(DNAI1):c.1703G>C (p.Trp568Ser)
|
rs772686744
|
0.00003
|
NM_014252.4(SLC25A15):c.337G>A (p.Gly113Ser)
|
rs199894905
|
0.00003
|
NM_014845.6(FIG4):c.2459+1G>A
|
rs747768373
|
0.00003
|
NM_014874.4(MFN2):c.1085C>T (p.Thr362Met)
|
rs387906991
|
0.00003
|
NM_015160.3(PMPCA):c.1130C>T (p.Ala377Val)
|
rs963172852
|
0.00003
|
NM_016335.6(PRODH):c.1652A>C (p.Tyr551Ser)
|
rs142346005
|
0.00003
|
NM_017802.4(DNAAF5):c.1258T>C (p.Cys420Arg)
|
rs147811057
|
0.00003
|
NM_017807.4(OSGEP):c.319G>A (p.Val107Met)
|
rs140583554
|
0.00003
|
NM_017807.4(OSGEP):c.973C>T (p.Arg325Trp)
|
rs761839638
|
0.00003
|
NM_017849.4(TMEM127):c.464T>A (p.Leu155Ter)
|
rs886039439
|
0.00003
|
NM_018129.4(PNPO):c.657G>A (p.Trp219Ter)
|
rs776248931
|
0.00003
|
NM_020320.5(RARS2):c.419T>G (p.Phe140Cys)
|
rs772887102
|
0.00003
|
NM_020779.4(WDR35):c.3170A>G (p.Tyr1057Cys)
|
rs541910371
|
0.00003
|
NM_022041.4(GAN):c.805C>T (p.Arg269Trp)
|
rs776397915
|
0.00003
|
NM_024649.5(BBS1):c.1339G>A (p.Ala447Thr)
|
rs200116631
|
0.00003
|
NM_025152.3(NUBPL):c.313G>T (p.Asp105Tyr)
|
rs397515440
|
0.00003
|
NM_032043.3(BRIP1):c.2492+2dup
|
rs587780240
|
0.00003
|
NM_183357.3(ADCY5):c.1646+1G>A
|
rs746547282
|
0.00003
|
NM_000026.4(ADSL):c.-49T>C
|
rs1272053459
|
0.00002
|
NM_000027.4(AGA):c.503G>A (p.Trp168Ter)
|
rs386833430
|
0.00002
|
NM_000051.4(ATM):c.2466+1552G>C
|
rs963653732
|
0.00002
|
NM_000051.4(ATM):c.3994-2A>G
|
rs587782276
|
0.00002
|
NM_000089.4(COL1A2):c.2755G>A (p.Gly919Ser)
|
rs749621872
|
0.00002
|
NM_000090.4(COL3A1):c.1996G>A (p.Gly666Ser)
|
rs755528878
|
0.00002
|
NM_000096.4(CP):c.583G>A (p.Gly195Arg)
|
rs750451693
|
0.00002
|
NM_000256.3(MYBPC3):c.2374T>C (p.Trp792Arg)
|
rs187830361
|
0.00002
|
NM_000256.3(MYBPC3):c.2459G>A (p.Arg820Gln)
|
rs2856655
|
0.00002
|
NM_000257.4(MYH7):c.1727A>G (p.His576Arg)
|
rs727504238
|
0.00002
|
NM_000257.4(MYH7):c.2348G>A (p.Arg783His)
|
rs397516142
|
0.00002
|
NM_000257.4(MYH7):c.958G>A (p.Val320Met)
|
rs376897125
|
0.00002
|
NM_000335.5(SCN5A):c.612-2A>G
|
rs370438420
|
0.00002
|
NM_000363.5(TNNI3):c.434G>A (p.Arg145Gln)
|
rs397516349
|
0.00002
|
NM_000404.4(GLB1):c.146G>A (p.Arg49His)
|
rs780523881
|
0.00002
|
NM_000492.4(CFTR):c.1570T>C (p.Cys524Arg)
|
rs368516826
|
0.00002
|
NM_000492.4(CFTR):c.165-3C>T
|
rs200337193
|
0.00002
|
NM_000492.4(CFTR):c.3095A>G (p.Tyr1032Cys)
|
rs144055758
|
0.00002
|
NM_000492.4(CFTR):c.330C>A (p.Asp110Glu)
|
rs397508537
|
0.00002
|
NM_000492.4(CFTR):c.4426C>T (p.Gln1476Ter)
|
rs374705585
|
0.00002
|
NM_000492.4(CFTR):c.490-1G>A
|
rs397508734
|
0.00002
|
NM_000527.5(LDLR):c.1720C>T (p.Arg574Cys)
|
rs185098634
|
0.00002
|
NM_000527.5(LDLR):c.1774G>A (p.Gly592Arg)
|
rs763147599
|
0.00002
|
NM_000527.5(LDLR):c.409G>A (p.Gly137Ser)
|
rs730882082
|
0.00002
|
NM_000535.7(PMS2):c.2444C>T (p.Ser815Leu)
|
rs587779338
|
0.00002
|
NM_000666.3(ACY1):c.699A>C (p.Glu233Asp)
|
rs121912699
|
0.00002
|
NM_000687.4(AHCY):c.293C>T (p.Pro98Leu)
|
rs757966746
|
0.00002
|
NM_001001344.3(ATP2B3):c.3338C>T (p.Thr1113Met)
|
rs368215361
|
0.00002
|
NM_001037.5(SCN1B):c.254G>A (p.Arg85His)
|
rs16969925
|
0.00002
|
NM_001098.3(ACO2):c.988C>T (p.Pro330Ser)
|
rs150129663
|
0.00002
|
NM_001126108.2(SLC12A3):c.2721-1G>A
|
rs761242621
|
0.00002
|
NM_001160372.4(TRAPPC9):c.1982-1G>A
|
rs1465738840
|
0.00002
|
NM_001199107.2(TBC1D24):c.1544C>T (p.Ala515Val)
|
rs267607105
|
0.00002
|
NM_001199107.2(TBC1D24):c.845C>G (p.Pro282Arg)
|
rs747538224
|
0.00002
|
NM_001232.4(CASQ2):c.164A>G (p.Tyr55Cys)
|
rs1436844070
|
0.00002
|
NM_001253852.3(AP4B1):c.617G>A (p.Arg206Gln)
|
rs149705131
|
0.00002
|
NM_001256789.3(CACNA1F):c.1606G>A (p.Ala536Thr)
|
rs781923856
|
0.00002
|
NM_001267550.2(TTN):c.56572C>T (p.Arg18858Ter)
|
rs745376275
|
0.00002
|
NM_001267550.2(TTN):c.89265G>A (p.Trp29755Ter)
|
rs1179247052
|
0.00002
|
NM_001267550.2(TTN):c.98299_98300del (p.Arg32767fs)
|
rs397517776
|
0.00002
|
NM_001277115.2(DNAH11):c.1A>G (p.Met1Val)
|
rs1162526607
|
0.00002
|
NM_001360.3(DHCR7):c.1337G>A (p.Arg446Gln)
|
rs751604696
|
0.00002
|
NM_001371904.1(APOA5):c.913C>T (p.Gln305Ter)
|
rs1403296082
|
0.00002
|
NM_001540.5(HSPB1):c.3G>A (p.Met1Ile)
|
rs1173242313
|
0.00002
|
NM_002180.3(IGHMBP2):c.1156T>C (p.Trp386Arg)
|
rs759641927
|
0.00002
|
NM_002180.3(IGHMBP2):c.1693G>A (p.Asp565Asn)
|
rs770111639
|
0.00002
|
NM_002485.5(NBN):c.37+1G>A
|
rs574673404
|
0.00002
|
NM_002878.4(RAD51D):c.576+1G>A
|
rs781161543
|
0.00002
|
NM_002878.4(RAD51D):c.620C>T (p.Ser207Leu)
|
rs370228071
|
0.00002
|
NM_002878.4(RAD51D):c.898C>T (p.Arg300Ter)
|
rs750621215
|
0.00002
|
NM_003002.4(SDHD):c.479G>T (p.Ter160Leu)
|
rs201372601
|
0.00002
|
NM_003384.3(VRK1):c.216+1G>C
|
rs774518440
|
0.00002
|
NM_004092.4(ECHS1):c.817A>G (p.Lys273Glu)
|
rs565090080
|
0.00002
|
NM_004608.4(TBX6):c.512G>A (p.Arg171His)
|
rs768465241
|
0.00002
|
NM_005477.3(HCN4):c.1123C>T (p.Arg375Cys)
|
rs755356387
|
0.00002
|
NM_005548.3(KARS1):c.1676C>T (p.Thr559Met)
|
rs774447299
|
0.00002
|
NM_005591.4(MRE11):c.1867+2T>C
|
rs745677716
|
0.00002
|
NM_005591.4(MRE11):c.402+1G>A
|
rs929767929
|
0.00002
|
NM_005591.4(MRE11):c.545-1G>A
|
rs1451215042
|
0.00002
|
NM_006757.4(TNNT3):c.481-1G>A
|
rs769915398
|
0.00002
|
NM_007194.4(CHEK2):c.1169A>C (p.Tyr390Ser)
|
rs200928781
|
0.00002
|
NM_007254.4(PNKP):c.865+1G>A
|
rs762003634
|
0.00002
|
NM_014845.6(FIG4):c.877-2A>C
|
rs143956557
|
0.00002
|
NM_014908.4(DOLK):c.1201_1202del (p.Ser401fs)
|
rs919111760
|
0.00002
|
NM_015047.3(EMC1):c.245C>T (p.Thr82Met)
|
rs869320625
|
0.00002
|
NM_018006.5(TRMU):c.1135G>T (p.Gly379Cys)
|
rs773023974
|
0.00002
|
NM_018006.5(TRMU):c.671T>G (p.Ile224Ser)
|
rs926748713
|
0.00002
|
NM_018668.5(VPS33B):c.1225+5G>C
|
rs398122407
|
0.00002
|
NM_020247.5(COQ8A):c.901C>T (p.Arg301Trp)
|
rs140246430
|
0.00002
|
NM_023036.6(DNAI2):c.610+1G>A
|
rs758109864
|
0.00002
|
NM_024120.5(NDUFAF5):c.836T>G (p.Met279Arg)
|
rs761389904
|
0.00002
|
NM_024417.5(FDXR):c.221C>T (p.Pro74Leu)
|
rs746953590
|
0.00002
|
NM_024675.4(PALB2):c.212-2A>G
|
rs730881879
|
0.00002
|
NM_030630.3(HID1):c.1009-1G>T
|
rs757488824
|
0.00002
|
NM_058216.3(RAD51C):c.773G>A (p.Arg258His)
|
rs267606997
|
0.00002
|
NM_153704.6(TMEM67):c.1321C>T (p.Arg441Cys)
|
rs752362727
|
0.00002
|
NM_000020.3(ACVRL1):c.236G>A (p.Gly79Glu)
|
rs1283365095
|
0.00001
|
NM_000033.4(ABCD1):c.1597A>C (p.Lys533Gln)
|
rs781862879
|
0.00001
|
NM_000038.6(APC):c.3083G>T (p.Ser1028Ile)
|
rs1114167617
|
0.00001
|
NM_000039.3(APOA1):c.296T>C (p.Leu99Pro)
|
rs372520221
|
0.00001
|
NM_000051.4(ATM):c.1235G>A (p.Trp412Ter)
|
rs587779813
|
0.00001
|
NM_000051.4(ATM):c.1695A>G (p.Glu565=)
|
rs780932013
|
0.00001
|
NM_000051.4(ATM):c.186-1G>A
|
rs1259911051
|
0.00001
|
NM_000051.4(ATM):c.2376+3A>T
|
rs758083563
|
0.00001
|
NM_000051.4(ATM):c.2838+4A>G
|
rs876659907
|
0.00001
|
NM_000051.4(ATM):c.2930G>A (p.Cys977Tyr)
|
rs876660628
|
0.00001
|
NM_000051.4(ATM):c.3078-17A>G
|
rs2081636353
|
0.00001
|
NM_000051.4(ATM):c.3848T>C (p.Leu1283Pro)
|
rs730881389
|
0.00001
|
NM_000051.4(ATM):c.3994-159A>G
|
rs864622543
|
0.00001
|
NM_000051.4(ATM):c.496+3A>G
|
rs876658311
|
0.00001
|
NM_000051.4(ATM):c.5005+1G>T
|
rs1057517427
|
0.00001
|
NM_000051.4(ATM):c.5144T>C (p.Leu1715Pro)
|
rs747800057
|
0.00001
|
NM_000051.4(ATM):c.5763-1056G>A
|
rs1325461375
|
0.00001
|
NM_000051.4(ATM):c.5825C>T (p.Ala1942Val)
|
rs730881394
|
0.00001
|
NM_000051.4(ATM):c.6056A>G (p.Tyr2019Cys)
|
rs876658415
|
0.00001
|
NM_000051.4(ATM):c.6095+1G>A
|
rs587781584
|
0.00001
|
NM_000051.4(ATM):c.6154G>A (p.Glu2052Lys)
|
rs202206540
|
0.00001
|
NM_000051.4(ATM):c.6573-2A>G
|
rs751168951
|
0.00001
|
NM_000051.4(ATM):c.6807G>A (p.Gln2269=)
|
rs587780638
|
0.00001
|
NM_000051.4(ATM):c.72+1G>A
|
rs786204088
|
0.00001
|
NM_000051.4(ATM):c.7307+3_7307+4insGTTC
|
rs587782288
|
0.00001
|
NM_000051.4(ATM):c.7397C>A (p.Ala2466Glu)
|
rs1324075885
|
0.00001
|
NM_000051.4(ATM):c.7559T>G (p.Met2520Arg)
|
rs587782692
|
0.00001
|
NM_000051.4(ATM):c.7570G>C (p.Ala2524Pro)
|
rs769142993
|
0.00001
|
NM_000051.4(ATM):c.7914G>T (p.Trp2638Cys)
|
rs758843096
|
0.00001
|
NM_000051.4(ATM):c.7997C>A (p.Thr2666Asn)
|
rs730881384
|
0.00001
|
NM_000051.4(ATM):c.8010G>A (p.Lys2670=)
|
rs1013244700
|
0.00001
|
NM_000051.4(ATM):c.8045C>G (p.Thr2682Ser)
|
rs1175177178
|
0.00001
|
NM_000051.4(ATM):c.8105T>G (p.Ile2702Arg)
|
rs876659735
|
0.00001
|
NM_000051.4(ATM):c.8486C>T (p.Pro2829Leu)
|
rs938431501
|
0.00001
|
NM_000051.4(ATM):c.875C>T (p.Pro292Leu)
|
rs747727055
|
0.00001
|
NM_000051.4(ATM):c.9023G>A (p.Arg3008His)
|
rs587781894
|
0.00001
|
NM_000051.4(ATM):c.967A>G (p.Ile323Val)
|
rs587781511
|
0.00001
|
NM_000053.4(ATP7B):c.3716T>G (p.Val1239Gly)
|
rs374628199
|
0.00001
|
NM_000057.4(BLM):c.2015A>G (p.Gln672Arg)
|
rs747281324
|
0.00001
|
NM_000057.4(BLM):c.2075-1G>A
|
rs1231598990
|
0.00001
|
NM_000057.4(BLM):c.2824-2A>T
|
rs745538883
|
0.00001
|
NM_000057.4(BLM):c.3163T>C (p.Cys1055Arg)
|
rs746218707
|
0.00001
|
NM_000057.4(BLM):c.3875-2A>G
|
rs150421256
|
0.00001
|
NM_000059.4(BRCA2):c.6859A>T (p.Arg2287Ter)
|
rs876661261
|
0.00001
|
NM_000059.4(BRCA2):c.7961T>C (p.Leu2654Pro)
|
rs80359023
|
0.00001
|
NM_000059.4(BRCA2):c.7970A>C (p.Lys2657Thr)
|
rs1555286874
|
0.00001
|
NM_000059.4(BRCA2):c.8524C>T (p.Arg2842Cys)
|
rs80359104
|
0.00001
|
NM_000059.4(BRCA2):c.9648+1G>C
|
rs730881573
|
0.00001
|
NM_000071.3(CBS):c.1111G>A (p.Val371Met)
|
rs372010465
|
0.00001
|
NM_000071.3(CBS):c.442G>A (p.Gly148Arg)
|
rs755952006
|
0.00001
|
NM_000077.5(CDKN2A):c.259C>T (p.Arg87Trp)
|
rs749714198
|
0.00001
|
NM_000090.4(COL3A1):c.3166G>A (p.Gly1056Ser)
|
rs1223008559
|
0.00001
|
NM_000091.5(COL4A3):c.3683G>T (p.Gly1228Val)
|
rs1183958961
|
0.00001
|
NM_000135.4(FANCA):c.2941T>C (p.Cys981Arg)
|
rs191943709
|
0.00001
|
NM_000136.3(FANCC):c.166-2A>G
|
rs587777945
|
0.00001
|
NM_000136.3(FANCC):c.166-4_166-1dup
|
rs746016938
|
0.00001
|
NM_000136.3(FANCC):c.522-1G>C
|
rs1014112491
|
0.00001
|
NM_000136.3(FANCC):c.996+1G>T
|
rs370510954
|
0.00001
|
NM_000138.5(FBN1):c.4460-8G>A
|
rs193922204
|
0.00001
|
NM_000138.5(FBN1):c.5512G>A (p.Gly1838Ser)
|
rs397515823
|
0.00001
|
NM_000138.5(FBN1):c.6448C>T (p.Arg2150Cys)
|
rs76702162
|
0.00001
|
NM_000138.5(FBN1):c.6772T>G (p.Cys2258Gly)
|
rs1057520617
|
0.00001
|
NM_000138.5(FBN1):c.7339G>A (p.Glu2447Lys)
|
rs137854464
|
0.00001
|
NM_000143.4(FH):c.1204C>T (p.His402Tyr)
|
rs760360724
|
0.00001
|
NM_000143.4(FH):c.151C>T (p.Arg51Trp)
|
rs778678782
|
0.00001
|
NM_000143.4(FH):c.194A>G (p.Asp65Gly)
|
rs145116688
|
0.00001
|
NM_000143.4(FH):c.222A>T (p.Arg74Ser)
|
rs146739519
|
0.00001
|
NM_000143.4(FH):c.431G>A (p.Gly144Glu)
|
rs1057521425
|
0.00001
|
NM_000143.4(FH):c.583A>G (p.Met195Val)
|
rs1553341364
|
0.00001
|
NM_000143.4(FH):c.908T>C (p.Leu303Ser)
|
rs201502246
|
0.00001
|
NM_000143.4(FH):c.914T>C (p.Phe305Ser)
|
rs1439046582
|
0.00001
|
NM_000143.4(FH):c.923C>G (p.Ala308Gly)
|
rs1057524385
|
0.00001
|
NM_000151.4(G6PC1):c.326G>A (p.Cys109Tyr)
|
rs886052955
|
0.00001
|
NM_000157.4(GBA1):c.703T>C (p.Ser235Pro)
|
rs1064644
|
0.00001
|
NM_000157.4(GBA1):c.754T>A (p.Phe252Ile)
|
rs381737
|
0.00001
|
NM_000158.4(GBE1):c.1064G>A (p.Arg355His)
|
rs869312919
|
0.00001
|
NM_000162.5(GCK):c.1324G>A (p.Glu442Lys)
|
rs758737171
|
0.00001
|
NM_000162.5(GCK):c.676G>A (p.Val226Met)
|
rs148311934
|
0.00001
|
NM_000162.5(GCK):c.787T>C (p.Ser263Pro)
|
rs193922331
|
0.00001
|
NM_000162.5(GCK):c.952G>T (p.Gly318Trp)
|
rs193922340
|
0.00001
|
NM_000166.6(GJB1):c.305A>G (p.Glu102Gly)
|
rs779696968
|
0.00001
|
NM_000166.6(GJB1):c.491G>A (p.Arg164Gln)
|
rs1241595912
|
0.00001
|
NM_000169.3(GLA):c.868A>C (p.Met290Leu)
|
rs375538532
|
0.00001
|
NM_000179.3(MSH6):c.261-1G>C
|
rs863225402
|
0.00001
|
NM_000179.3(MSH6):c.2926C>T (p.Arg976Cys)
|
rs587782386
|
0.00001
|
NM_000179.3(MSH6):c.3227G>A (p.Arg1076His)
|
rs779617676
|
0.00001
|
NM_000179.3(MSH6):c.3447A>C (p.Leu1149Phe)
|
rs876660151
|
0.00001
|
NM_000179.3(MSH6):c.3601C>G (p.Leu1201Val)
|
rs182024561
|
0.00001
|
NM_000179.3(MSH6):c.3724C>A (p.Arg1242Ser)
|
rs587779285
|
0.00001
|
NM_000179.3(MSH6):c.3801+1G>T
|
rs876660943
|
0.00001
|
NM_000179.3(MSH6):c.4053_4081dup (p.*1361Leuext*3)
|
rs2104583584
|
0.00001
|
NM_000179.3(MSH6):c.628-2A>G
|
rs1114167725
|
0.00001
|
NM_000218.3(KCNQ1):c.1664G>A (p.Arg555His)
|
rs199472800
|
0.00001
|
NM_000218.3(KCNQ1):c.521G>A (p.Arg174His)
|
rs199472697
|
0.00001
|
NM_000218.3(KCNQ1):c.674C>T (p.Ser225Leu)
|
rs199473456
|
0.00001
|
NM_000218.3(KCNQ1):c.683+5G>A
|
rs397508122
|
0.00001
|
NM_000218.3(KCNQ1):c.728G>A (p.Arg243His)
|
rs120074196
|
0.00001
|
NM_000218.3(KCNQ1):c.776G>A (p.Arg259His)
|
rs199472720
|
0.00001
|
NM_000218.3(KCNQ1):c.905C>T (p.Ala302Val)
|
rs193922365
|
0.00001
|
NM_000226.4(KRT9):c.488G>A (p.Arg163Gln)
|
rs57758262
|
0.00001
|
NM_000237.3(LPL):c.1139+1G>A
|
rs767260655
|
0.00001
|
NM_000238.4(KCNH2):c.1750G>A (p.Gly584Ser)
|
rs199473428
|
0.00001
|
NM_000238.4(KCNH2):c.188C>A (p.Pro63His)
|
rs766379103
|
0.00001
|
NM_000238.4(KCNH2):c.2467C>T (p.Arg823Trp)
|
rs199473538
|
0.00001
|
NM_000238.4(KCNH2):c.2660G>A (p.Arg887His)
|
rs199473432
|
0.00001
|
NM_000249.4(MLH1):c.1517T>C (p.Val506Ala)
|
rs63749909
|
0.00001
|
NM_000249.4(MLH1):c.244A>G (p.Thr82Ala)
|
rs587778998
|
0.00001
|
NM_000251.3(MSH2):c.2458+2T>C
|
rs1278858560
|
0.00001
|
NM_000251.3(MSH2):c.446G>A (p.Gly149Asp)
|
rs587779162
|
0.00001
|
NM_000256.3(MYBPC3):c.1227-2A>G
|
rs730880531
|
0.00001
|
NM_000256.3(MYBPC3):c.2737+5G>A
|
rs398123280
|
0.00001
|
NM_000256.3(MYBPC3):c.3331-2A>C
|
rs869025469
|
0.00001
|
NM_000256.3(MYBPC3):c.481C>A (p.Pro161Thr)
|
rs397516053
|
0.00001
|
NM_000256.3(MYBPC3):c.655G>T (p.Val219Phe)
|
rs397516068
|
0.00001
|
NM_000256.3(MYBPC3):c.851+2T>C
|
rs1194615408
|
0.00001
|
NM_000257.4(MYH7):c.1231G>A (p.Val411Ile)
|
rs730880868
|
0.00001
|
NM_000257.4(MYH7):c.1324C>T (p.Arg442Cys)
|
rs148808089
|
0.00001
|
NM_000257.4(MYH7):c.1370T>C (p.Ile457Thr)
|
rs397516103
|
0.00001
|
NM_000257.4(MYH7):c.1447G>A (p.Glu483Lys)
|
rs121913651
|
0.00001
|
NM_000257.4(MYH7):c.1633G>A (p.Asp545Asn)
|
rs564101364
|
0.00001
|
NM_000257.4(MYH7):c.1750G>A (p.Gly584Ser)
|
rs121913626
|
0.00001
|
NM_000257.4(MYH7):c.2080C>T (p.Arg694Cys)
|
rs727504240
|
0.00001
|
NM_000257.4(MYH7):c.2536G>C (p.Glu846Gln)
|
rs730880748
|
0.00001
|
NM_000257.4(MYH7):c.2555T>C (p.Met852Thr)
|
rs397516157
|
0.00001
|
NM_000257.4(MYH7):c.3169G>A (p.Gly1057Ser)
|
rs397516179
|
0.00001
|
NM_000257.4(MYH7):c.343T>C (p.Tyr115His)
|
rs397516183
|
0.00001
|
NM_000257.4(MYH7):c.4145G>A (p.Arg1382Gln)
|
rs727504325
|
0.00001
|
NM_000257.4(MYH7):c.428G>A (p.Arg143Gln)
|
rs397516209
|
0.00001
|
NM_000257.4(MYH7):c.550A>C (p.Lys184Gln)
|
rs730880843
|
0.00001
|
NM_000257.4(MYH7):c.709C>T (p.Arg237Trp)
|
rs45516091
|
0.00001
|
NM_000257.4(MYH7):c.727C>T (p.Arg243Cys)
|
rs397516265
|
0.00001
|
NM_000257.4(MYH7):c.728G>A (p.Arg243His)
|
rs267606910
|
0.00001
|
NM_000258.3(MYL3):c.281G>A (p.Arg94His)
|
rs199474703
|
0.00001
|
NM_000258.3(MYL3):c.427G>A (p.Glu143Lys)
|
rs104893750
|
0.00001
|
NM_000263.4(NAGLU):c.934G>A (p.Asp312Asn)
|
rs1052471595
|
0.00001
|
NM_000271.5(NPC1):c.1436G>A (p.Cys479Tyr)
|
rs1555636659
|
0.00001
|
NM_000271.5(NPC1):c.2776G>A (p.Ala926Thr)
|
rs564631426
|
0.00001
|
NM_000271.5(NPC1):c.530G>A (p.Cys177Tyr)
|
rs80358252
|
0.00001
|
NM_000302.4(PLOD1):c.1095C>T (p.Gly365=)
|
rs1032781250
|
0.00001
|
NM_000302.4(PLOD1):c.1471-2A>G
|
rs1401035675
|
0.00001
|
NM_000303.3(PMM2):c.53C>G (p.Thr18Ser)
|
rs760265100
|
0.00001
|
NM_000308.4(CTSA):c.1270C>T (p.Arg424Trp)
|
rs1247403237
|
0.00001
|
NM_000314.8(PTEN):c.518G>A (p.Arg173His)
|
rs121913294
|
0.00001
|
NM_000314.8(PTEN):c.77C>T (p.Thr26Ile)
|
rs786204853
|
0.00001
|
NM_000334.4(SCN4A):c.692C>T (p.Thr231Met)
|
rs867587467
|
0.00001
|
NM_000335.5(SCN5A):c.1066G>A (p.Asp356Asn)
|
rs199473565
|
0.00001
|
NM_000335.5(SCN5A):c.1099C>T (p.Arg367Cys)
|
rs199473097
|
0.00001
|
NM_000335.5(SCN5A):c.1890G>A (p.Thr630=)
|
rs1204915217
|
0.00001
|
NM_000335.5(SCN5A):c.2441G>A (p.Arg814Gln)
|
rs199473584
|
0.00001
|
NM_000335.5(SCN5A):c.2677C>T (p.Arg893Cys)
|
rs199473171
|
0.00001
|
NM_000335.5(SCN5A):c.2678G>A (p.Arg893His)
|
rs199473172
|
0.00001
|
NM_000335.5(SCN5A):c.4716C>T (p.Gly1572=)
|
rs754221948
|
0.00001
|
NM_000335.5(SCN5A):c.4892G>A (p.Arg1631His)
|
rs199473286
|
0.00001
|
NM_000335.5(SCN5A):c.5126C>T (p.Ser1709Leu)
|
rs137854604
|
0.00001
|
NM_000350.3(ABCA4):c.4253+4C>T
|
rs61754044
|
0.00001
|
NM_000363.5(TNNI3):c.485G>A (p.Arg162Gln)
|
rs397516354
|
0.00001
|
NM_000363.5(TNNI3):c.497C>T (p.Ser166Phe)
|
rs727504242
|
0.00001
|
NM_000363.5(TNNI3):c.586G>A (p.Asp196Asn)
|
rs104894727
|
0.00001
|
NM_000363.5(TNNI3):c.592C>G (p.Leu198Val)
|
rs727504285
|
0.00001
|
NM_000371.4(TTR):c.239C>T (p.Thr80Ile)
|
rs1254341785
|
0.00001
|
NM_000371.4(TTR):c.293A>T (p.Tyr98Phe)
|
rs958191819
|
0.00001
|
NM_000478.6(ALPL):c.542C>T (p.Ser181Leu)
|
rs199590449
|
0.00001
|
NM_000492.4(CFTR):c.1517T>C (p.Ile506Thr)
|
rs397508224
|
0.00001
|
NM_000492.4(CFTR):c.1655A>C (p.Gln552Pro)
|
rs1791967656
|
0.00001
|
NM_000492.4(CFTR):c.166G>A (p.Glu56Lys)
|
rs397508256
|
0.00001
|
NM_000492.4(CFTR):c.1721C>A (p.Pro574His)
|
rs121908758
|
0.00001
|
NM_000492.4(CFTR):c.2723C>A (p.Thr908Asn)
|
rs369521395
|
0.00001
|
NM_000492.4(CFTR):c.3047T>C (p.Phe1016Ser)
|
rs397508488
|
0.00001
|
NM_000492.4(CFTR):c.3107C>A (p.Thr1036Asn)
|
rs397508498
|
0.00001
|
NM_000492.4(CFTR):c.3139_3139+1del
|
rs397508505
|
0.00001
|
NM_000492.4(CFTR):c.3222T>A (p.Phe1074Leu)
|
rs186045772
|
0.00001
|
NM_000492.4(CFTR):c.377G>A (p.Gly126Asp)
|
rs397508609
|
0.00001
|
NM_000492.4(CFTR):c.869+5G>A
|
rs533959068
|
0.00001
|
NM_000492.4(CFTR):c.870-2A>G
|
rs1290078234
|
0.00001
|
NM_000520.6(HEXA):c.1393G>A (p.Asp465Asn)
|
rs750727201
|
0.00001
|
NM_000520.6(HEXA):c.1444G>A (p.Glu482Lys)
|
rs121907952
|
0.00001
|
NM_000523.4(HOXD13):c.820C>T (p.Arg274Ter)
|
rs200750564
|
0.00001
|
NM_000527.5(LDLR):c.1217G>A (p.Arg406Gln)
|
rs552422789
|
0.00001
|
NM_000527.5(LDLR):c.1238C>T (p.Thr413Met)
|
rs368562025
|
0.00001
|
NM_000527.5(LDLR):c.1241T>G (p.Leu414Arg)
|
rs748554592
|
0.00001
|
NM_000527.5(LDLR):c.1307T>C (p.Val436Ala)
|
rs779732323
|
0.00001
|
NM_000527.5(LDLR):c.1414G>T (p.Asp472Tyr)
|
rs730882102
|
0.00001
|
NM_000527.5(LDLR):c.1502C>T (p.Ala501Val)
|
rs755667663
|
0.00001
|
NM_000527.5(LDLR):c.1691A>G (p.Asn564Ser)
|
rs758194385
|
0.00001
|
NM_000527.5(LDLR):c.1898G>A (p.Arg633His)
|
rs754536745
|
0.00001
|
NM_000527.5(LDLR):c.190+4A>T
|
rs769446356
|
0.00001
|
NM_000527.5(LDLR):c.1906G>A (p.Gly636Ser)
|
rs764550980
|
0.00001
|
NM_000527.5(LDLR):c.1966C>A (p.His656Asn)
|
rs762815611
|
0.00001
|
NM_000527.5(LDLR):c.223T>A (p.Cys75Ser)
|
rs879254439
|
0.00001
|
NM_000527.5(LDLR):c.352G>T (p.Asp118Tyr)
|
rs730882080
|
0.00001
|
NM_000527.5(LDLR):c.502G>A (p.Asp168Asn)
|
rs200727689
|
0.00001
|
NM_000527.5(LDLR):c.664T>C (p.Cys222Arg)
|
rs577934998
|
0.00001
|
NM_000527.5(LDLR):c.782G>T (p.Cys261Phe)
|
rs121908040
|
0.00001
|
NM_000527.5(LDLR):c.788A>G (p.Asp263Gly)
|
rs141681167
|
0.00001
|
NM_000535.7(PMS2):c.1144+1G>A
|
rs373885654
|
0.00001
|
NM_000535.7(PMS2):c.164-1G>A
|
rs763308607
|
0.00001
|
NM_000535.7(PMS2):c.215G>A (p.Gly72Glu)
|
rs730881915
|
0.00001
|
NM_000535.7(PMS2):c.23+1G>T
|
rs587782074
|
0.00001
|
NM_000535.7(PMS2):c.319C>T (p.Arg107Trp)
|
rs188006077
|
0.00001
|
NM_000535.7(PMS2):c.614A>C (p.Gln205Pro)
|
rs587779342
|
0.00001
|
NM_000535.7(PMS2):c.706-2A>G
|
rs745487791
|
0.00001
|
NM_000540.3(RYR1):c.11315G>A (p.Arg3772Gln)
|
rs193922839
|
0.00001
|
NM_000540.3(RYR1):c.3362A>G (p.Tyr1121Cys)
|
rs756138074
|
0.00001
|
NM_000540.3(RYR1):c.5183C>T (p.Ser1728Phe)
|
rs193922781
|
0.00001
|
NM_000540.3(RYR1):c.9472+1G>A
|
rs776697656
|
0.00001
|
NM_000545.8(HNF1A):c.599G>A (p.Arg200Gln)
|
rs893256143
|
0.00001
|
NM_000545.8(HNF1A):c.608G>A (p.Arg203His)
|
rs587780357
|
0.00001
|
NM_000546.6(TP53):c.1000G>C (p.Gly334Arg)
|
rs730882028
|
0.00001
|
NM_000546.6(TP53):c.374C>T (p.Thr125Met)
|
rs786201057
|
0.00001
|
NM_000546.6(TP53):c.541C>T (p.Arg181Cys)
|
rs587782596
|
0.00001
|
NM_000546.6(TP53):c.542G>A (p.Arg181His)
|
rs397514495
|
0.00001
|
NM_000551.4(VHL):c.242C>T (p.Pro81Leu)
|
rs193922608
|
0.00001
|
NM_000551.4(VHL):c.492G>C (p.Gln164His)
|
rs1352275281
|
0.00001
|
NM_000687.4(AHCY):c.145C>T (p.Arg49Cys)
|
rs369428934
|
0.00001
|
NM_000687.4(AHCY):c.473C>T (p.Thr158Met)
|
rs769267513
|
0.00001
|
NM_000791.4(DHFR):c.-476C>G
|
rs1196929384
|
0.00001
|
NM_001003800.2(BICD2):c.2108C>T (p.Thr703Met)
|
rs371707778
|
0.00001
|
NM_001005242.3(PKP2):c.1034+1G>A
|
rs869025496
|
0.00001
|
NM_001005242.3(PKP2):c.2446-2A>C
|
rs1060501188
|
0.00001
|
NM_001005373.4(LRSAM1):c.2019dup (p.Glu674fs)
|
rs1315010600
|
0.00001
|
NM_001008212.2(OPTN):c.626+1G>A
|
rs756957223
|
0.00001
|
NM_001010874.5(TECRL):c.730+1G>A
|
rs369606261
|
0.00001
|
NM_001031689.3(PLAA):c.1487-1G>A
|
rs1426488816
|
0.00001
|
NM_001040142.2(SCN2A):c.2695G>A (p.Gly899Ser)
|
rs796053120
|
0.00001
|
NM_001040616.3(LINS1):c.2020dup (p.Ser674fs)
|
rs1261920708
|
0.00001
|
NM_001042432.2(CLN3):c.1198-1G>T
|
rs386833702
|
0.00001
|
NM_001042492.3(NF1):c.1261-1G>A
|
rs2066618707
|
0.00001
|
NM_001042492.3(NF1):c.3610C>T (p.Arg1204Trp)
|
rs199474732
|
0.00001
|
NM_001048174.2(MUTYH):c.-6-2A>G
|
rs1383826978
|
0.00001
|
NM_001048174.2(MUTYH):c.1390A>T (p.Lys464Ter)
|
rs863224502
|
0.00001
|
NM_001048174.2(MUTYH):c.1556del (p.Ala519fs)
|
rs587780086
|
0.00001
|
NM_001048174.2(MUTYH):c.170A>G (p.His57Arg)
|
rs558707786
|
0.00001
|
NM_001048174.2(MUTYH):c.242G>C (p.Arg81Pro)
|
rs761763725
|
0.00001
|
NM_001048174.2(MUTYH):c.264+10C>T
|
rs369242529
|
0.00001
|
NM_001048174.2(MUTYH):c.386C>T (p.Pro129Leu)
|
rs777184451
|
0.00001
|
NM_001048174.2(MUTYH):c.559G>A (p.Val187Met)
|
rs776487884
|
0.00001
|
NM_001048174.2(MUTYH):c.563G>A (p.Gly188Glu)
|
rs768553551
|
0.00001
|
NM_001048174.2(MUTYH):c.736C>T (p.Arg246Trp)
|
rs769237459
|
0.00001
|
NM_001048174.2(MUTYH):c.992C>T (p.Pro331Leu)
|
rs1060501323
|
0.00001
|
NM_001079537.2(TRAPPC6B):c.91C>T (p.Arg31Ter)
|
rs1171802070
|
0.00001
|
NM_001079802.2(FKTN):c.1129_1130del (p.Met377fs)
|
rs1554761402
|
0.00001
|
NM_001114753.3(ENG):c.-10C>T
|
rs756994701
|
0.00001
|
NM_001126108.2(SLC12A3):c.403C>T (p.Arg135Cys)
|
rs749742102
|
0.00001
|
NM_001127511.3(APC):c.-192A>G
|
rs879253784
|
0.00001
|
NM_001128126.3(AP4S1):c.17T>C (p.Leu6Pro)
|
rs1335804396
|
0.00001
|
NM_001128425.2(MUTYH):c.36+1G>A
|
rs1553136984
|
0.00001
|
NM_001128431.4(SLC39A14):c.382C>T (p.Arg128Trp)
|
rs1291490743
|
0.00001
|
NM_001134363.3(RBM20):c.1901G>A (p.Arg634Gln)
|
rs267607001
|
0.00001
|
NM_001163435.3(TBCK):c.720+1G>A
|
rs925343986
|
0.00001
|
NM_001164508.2(NEB):c.19944G>A (p.Ser6648=)
|
rs201553266
|
0.00001
|
NM_001164508.2(NEB):c.5344-1G>C
|
rs1197561990
|
0.00001
|
NM_001165963.4(SCN1A):c.652T>C (p.Phe218Leu)
|
rs970867558
|
0.00001
|
NM_001199107.2(TBC1D24):c.679C>T (p.Arg227Trp)
|
rs748302886
|
0.00001
|
NM_001199107.2(TBC1D24):c.680G>T (p.Arg227Leu)
|
rs756181906
|
0.00001
|
NM_001267550.2(TTN):c.100587G>A (p.Trp33529Ter)
|
rs1064793560
|
0.00001
|
NM_001267550.2(TTN):c.100886G>A (p.Trp33629Ter)
|
rs1260821931
|
0.00001
|
NM_001267550.2(TTN):c.101227C>T (p.Arg33743Ter)
|
rs794729305
|
0.00001
|
NM_001267550.2(TTN):c.103771C>T (p.Arg34591Ter)
|
rs967542291
|
0.00001
|
NM_001267550.2(TTN):c.104092C>T (p.Arg34698Ter)
|
rs727504184
|
0.00001
|
NM_001267550.2(TTN):c.104399del (p.Arg34800fs)
|
rs747662439
|
0.00001
|
NM_001267550.2(TTN):c.104827C>T (p.Arg34943Ter)
|
rs1202115268
|
0.00001
|
NM_001267550.2(TTN):c.105754C>T (p.Arg35252Ter)
|
rs886043924
|
0.00001
|
NM_001267550.2(TTN):c.105805del (p.Thr35269fs)
|
rs752787097
|
0.00001
|
NM_001267550.2(TTN):c.106114_106115dup (p.Leu35372fs)
|
rs1394131775
|
0.00001
|
NM_001267550.2(TTN):c.107578C>T (p.Gln35860Ter)
|
rs1009131948
|
0.00001
|
NM_001267550.2(TTN):c.42214C>T (p.Arg14072Ter)
|
rs794729258
|
0.00001
|
NM_001267550.2(TTN):c.43600C>T (p.Gln14534Ter)
|
rs727504499
|
0.00001
|
NM_001267550.2(TTN):c.44272C>T (p.Arg14758Ter)
|
rs140743001
|
0.00001
|
NM_001267550.2(TTN):c.45307C>T (p.Arg15103Ter)
|
rs397517580
|
0.00001
|
NM_001267550.2(TTN):c.48015_48016del (p.Asp16007fs)
|
rs794729319
|
0.00001
|
NM_001267550.2(TTN):c.49870C>T (p.Arg16624Ter)
|
rs1471414348
|
0.00001
|
NM_001267550.2(TTN):c.52009C>T (p.Arg17337Ter)
|
rs1343120755
|
0.00001
|
NM_001267550.2(TTN):c.54166C>T (p.Arg18056Ter)
|
rs768431507
|
0.00001
|
NM_001267550.2(TTN):c.54418C>T (p.Arg18140Ter)
|
rs747236787
|
0.00001
|
NM_001267550.2(TTN):c.55660C>T (p.Arg18554Ter)
|
rs1483931960
|
0.00001
|
NM_001267550.2(TTN):c.57127del (p.Glu19042_Val19043insTer)
|
rs2052216955
|
0.00001
|
NM_001267550.2(TTN):c.57769C>T (p.Arg19257Ter)
|
rs794729275
|
0.00001
|
NM_001267550.2(TTN):c.58732+2T>C
|
rs869312054
|
0.00001
|
NM_001267550.2(TTN):c.59460G>A (p.Trp19820Ter)
|
rs1250461669
|
0.00001
|
NM_001267550.2(TTN):c.59693G>A (p.Trp19898Ter)
|
rs974671846
|
0.00001
|
NM_001267550.2(TTN):c.60681dup (p.Lys20228Ter)
|
rs797044692
|
0.00001
|
NM_001267550.2(TTN):c.61921C>T (p.Arg20641Ter)
|
rs878854324
|
0.00001
|
NM_001267550.2(TTN):c.67348+1G>A
|
rs758279518
|
0.00001
|
NM_001267550.2(TTN):c.68885_68888dup (p.Ile22964fs)
|
rs757603460
|
0.00001
|
NM_001267550.2(TTN):c.76654C>T (p.Arg25552Ter)
|
rs545954490
|
0.00001
|
NM_001267550.2(TTN):c.77145dup (p.Ser25716fs)
|
rs1205409465
|
0.00001
|
NM_001267550.2(TTN):c.78178G>T (p.Glu26060Ter)
|
rs794729289
|
0.00001
|
NM_001267550.2(TTN):c.78979C>T (p.Arg26327Ter)
|
rs1419374180
|
0.00001
|
NM_001267550.2(TTN):c.82240C>T (p.Arg27414Ter)
|
rs766840243
|
0.00001
|
NM_001267550.2(TTN):c.82525C>T (p.Arg27509Ter)
|
rs1575649368
|
0.00001
|
NM_001267550.2(TTN):c.83416C>T (p.Arg27806Ter)
|
rs886055237
|
0.00001
|
NM_001267550.2(TTN):c.86335C>T (p.Arg28779Ter)
|
rs1060500525
|
0.00001
|
NM_001267550.2(TTN):c.88837A>T (p.Lys29613Ter)
|
rs794729300
|
0.00001
|
NM_001267550.2(TTN):c.89220_89221insT (p.Ile29741fs)
|
rs1064794472
|
0.00001
|
NM_001267550.2(TTN):c.92317C>T (p.Arg30773Ter)
|
rs794729301
|
0.00001
|
NM_001267550.2(TTN):c.93139C>T (p.Arg31047Ter)
|
rs1416323929
|
0.00001
|
NM_001267550.2(TTN):c.9448C>T (p.Arg3150Ter)
|
rs146572907
|
0.00001
|
NM_001267550.2(TTN):c.95195C>T (p.Pro31732Leu)
|
rs753334568
|
0.00001
|
NM_001267550.2(TTN):c.98506C>T (p.Arg32836Ter)
|
rs869312085
|
0.00001
|
NM_001276345.2(TNNT2):c.287A>C (p.Asp96Ala)
|
rs397516455
|
0.00001
|
NM_001276345.2(TNNT2):c.418C>T (p.Arg140Cys)
|
rs397516463
|
0.00001
|
NM_001276345.2(TNNT2):c.890G>A (p.Trp297Ter)
|
rs727504247
|
0.00001
|
NM_001278116.2(L1CAM):c.925G>A (p.Glu309Lys)
|
rs367665974
|
0.00001
|
NM_001360.3(DHCR7):c.326T>C (p.Leu109Pro)
|
rs121912195
|
0.00001
|
NM_001363118.2(SLC52A2):c.505C>T (p.Arg169Cys)
|
rs782345472
|
0.00001
|
NM_001365536.1(SCN9A):c.5008A>T (p.Lys1670Ter)
|
rs751948774
|
0.00001
|
NM_001365536.1(SCN9A):c.5351del (p.Glu1784fs)
|
rs1553473041
|
0.00001
|
NM_001367721.1(CASK):c.2486A>G (p.Gln829Arg)
|
rs759736132
|
0.00001
|
NM_001369.3(DNAH5):c.10226G>C (p.Trp3409Ser)
|
rs755407407
|
0.00001
|
NM_001369.3(DNAH5):c.11029-2A>T
|
rs369312501
|
0.00001
|
NM_001369.3(DNAH5):c.13338+1G>C
|
rs1219958424
|
0.00001
|
NM_001369.3(DNAH5):c.1730G>C (p.Arg577Thr)
|
rs397515541
|
0.00001
|
NM_001369.3(DNAH5):c.2052+1G>T
|
rs1774569455
|
0.00001
|
NM_001369.3(DNAH5):c.5883-1G>A
|
rs1195745037
|
0.00001
|
NM_001369.3(DNAH5):c.8010+3A>G
|
rs748171209
|
0.00001
|
NM_001369.3(DNAH5):c.8030G>A (p.Arg2677Gln)
|
rs886043448
|
0.00001
|
NM_001370259.2(MEN1):c.1354C>T (p.Arg452Trp)
|
rs863224810
|
0.00001
|
NM_001371596.2(MFSD8):c.1235C>T (p.Pro412Leu)
|
rs267607235
|
0.00001
|
NM_001371904.1(APOA5):c.427del (p.Arg143fs)
|
rs777046568
|
0.00001
|
NM_001371904.1(APOA5):c.888del (p.Ile296fs)
|
rs1477198098
|
0.00001
|
NM_001378454.1(ALMS1):c.12299-2A>G
|
rs759788656
|
0.00001
|
NM_001379610.1(SPINK1):c.190A>G (p.Asn64Asp)
|
rs1261616345
|
0.00001
|
NM_001379610.1(SPINK1):c.1A>T (p.Met1Leu)
|
rs369163833
|
0.00001
|
NM_001382.4(DPAGT1):c.739C>T (p.Arg247Trp)
|
rs772988029
|
0.00001
|
NM_001386393.1(PANK2):c.1083-1G>T
|
rs148987163
|
0.00001
|
NM_001397406.1(FDX2):c.3G>T (p.Met1Ile)
|
rs771690392
|
0.00001
|
NM_001458.5(FLNC):c.5199+1G>T
|
rs1465588989
|
0.00001
|
NM_001492.6(GDF1):c.608G>A (p.Trp203Ter)
|
rs1359321518
|
0.00001
|
NM_001519.4(BRF1):c.677C>T (p.Ser226Leu)
|
rs606231416
|
0.00001
|
NM_001540.5(HSPB1):c.250G>C (p.Gly84Arg)
|
rs770272088
|
0.00001
|
NM_001605.3(AARS1):c.976C>T (p.Arg326Trp)
|
rs777601008
|
0.00001
|
NM_001613.4(ACTA2):c.592C>T (p.Arg198Cys)
|
rs772862676
|
0.00001
|
NM_001673.5(ASNS):c.1649G>A (p.Arg550His)
|
rs552452349
|
0.00001
|
NM_001846.4(COL4A2):c.4147G>A (p.Gly1383Arg)
|
rs797044947
|
0.00001
|
NM_001868.4(CPA1):c.829G>A (p.Gly277Ser)
|
rs782790983
|
0.00001
|
NM_001875.5(CPS1):c.2810T>A (p.Ile937Asn)
|
rs760714614
|
0.00001
|
NM_001987.5(ETV6):c.1106G>A (p.Arg369Gln)
|
rs724159946
|
0.00001
|
NM_002074.5(GNB1):c.229G>A (p.Gly77Ser)
|
rs758432471
|
0.00001
|
NM_002225.5(IVD):c.1184G>A (p.Arg395Gln)
|
rs1477527791
|
0.00001
|
NM_002225.5(IVD):c.149G>A (p.Arg50His)
|
rs2229311
|
0.00001
|
NM_002241.5(KCNJ10):c.524G>A (p.Arg175Gln)
|
rs397514673
|
0.00001
|
NM_002439.5(MSH3):c.1341-2A>G
|
rs750876165
|
0.00001
|
NM_002439.5(MSH3):c.136C>T (p.Gln46Ter)
|
rs779180469
|
0.00001
|
NM_002439.5(MSH3):c.238-2A>G
|
rs1749285874
|
0.00001
|
NM_002439.5(MSH3):c.358+2T>G
|
rs1450314617
|
0.00001
|
NM_002439.5(MSH3):c.76C>T (p.Arg26Ter)
|
rs770190473
|
0.00001
|
NM_002439.5(MSH3):c.909G>C (p.Lys303Asn)
|
rs757164724
|
0.00001
|
NM_002471.4(MYH6):c.2162G>A (p.Arg721Gln)
|
rs770907731
|
0.00001
|
NM_002485.5(NBN):c.2070+2del
|
rs1057517075
|
0.00001
|
NM_002485.5(NBN):c.2184+1G>T
|
rs756363734
|
0.00001
|
NM_002485.5(NBN):c.2234+2T>G
|
rs142301194
|
0.00001
|
NM_002485.5(NBN):c.481-2A>T
|
rs751567476
|
0.00001
|
NM_002485.5(NBN):c.7A>T (p.Lys3Ter)
|
rs779098734
|
0.00001
|
NM_002528.7(NTHL1):c.795del (p.Glu265fs)
|
rs1173366565
|
0.00001
|
NM_002529.4(NTRK1):c.2206-11G>A
|
rs1553263326
|
0.00001
|
NM_002529.4(NTRK1):c.638T>C (p.Leu213Pro)
|
rs747711259
|
0.00001
|
NM_002633.3(PGM1):c.878G>A (p.Arg293Gln)
|
rs1466885233
|
0.00001
|
NM_002693.3(POLG):c.3317T>C (p.Val1106Ala)
|
rs1354582663
|
0.00001
|
NM_002693.3(POLG):c.3527C>T (p.Ser1176Leu)
|
rs776031396
|
0.00001
|
NM_002693.3(POLG):c.3550G>A (p.Asp1184Asn)
|
rs1131691575
|
0.00001
|
NM_002693.3(POLG):c.679C>T (p.Arg227Trp)
|
rs121918056
|
0.00001
|
NM_002693.3(POLG):c.915C>G (p.Ser305Arg)
|
rs769410130
|
0.00001
|
NM_002878.4(RAD51D):c.739-1G>A
|
rs1555567202
|
0.00001
|
NM_003000.3(SDHB):c.287G>A (p.Gly96Asp)
|
rs778952116
|
0.00001
|
NM_003000.3(SDHB):c.540G>A (p.Leu180=)
|
rs528442805
|
0.00001
|
NM_003000.3(SDHB):c.744C>G (p.Asn248Lys)
|
rs1131691058
|
0.00001
|
NM_003001.5(SDHC):c.148C>T (p.Arg50Cys)
|
rs587778661
|
0.00001
|
NM_003001.5(SDHC):c.78-1G>A
|
rs786202200
|
0.00001
|
NM_003002.4(SDHD):c.205G>A (p.Glu69Lys)
|
rs202198133
|
0.00001
|
NM_003024.3(ITSN1):c.2227G>T (p.Val743Leu)
|
rs755276554
|
0.00001
|
NM_003060.4(SLC22A5):c.455G>A (p.Gly152Asp)
|
rs747821417
|
0.00001
|
NM_003193.5(TBCE):c.101G>C (p.Gly34Ala)
|
rs1283368278
|
0.00001
|
NM_003239.5(TGFB3):c.463C>T (p.Arg155Trp)
|
rs868258653
|
0.00001
|
NM_003242.6(TGFBR2):c.761G>A (p.Arg254His)
|
rs751948498
|
0.00001
|
NM_003280.3(TNNC1):c.23C>T (p.Ala8Val)
|
rs267607125
|
0.00001
|
NM_003384.3(VRK1):c.889+1G>T
|
rs1482696609
|
0.00001
|
NM_003476.5(CSRP3):c.449G>A (p.Cys150Tyr)
|
rs761507504
|
0.00001
|
NM_003560.4(PLA2G6):c.1111G>A (p.Val371Met)
|
rs765156550
|
0.00001
|
NM_003793.4(CTSF):c.1045+1G>T
|
rs1456291681
|
0.00001
|
NM_003872.3(NRP2):c.2118del (p.Val707fs)
|
rs779617179
|
0.00001
|
NM_004100.5(EYA4):c.1739-1G>A
|
rs797045088
|
0.00001
|
NM_004153.4(ORC1):c.2392-1G>T
|
rs869312969
|
0.00001
|
NM_004153.4(ORC1):c.721+1G>C
|
rs869312957
|
0.00001
|
NM_004168.4(SDHA):c.1220A>G (p.His407Arg)
|
rs374087393
|
0.00001
|
NM_004168.4(SDHA):c.1352G>A (p.Arg451His)
|
rs370690436
|
0.00001
|
NM_004168.4(SDHA):c.150+1G>A
|
rs1057523165
|
0.00001
|
NM_004168.4(SDHA):c.1660C>T (p.Arg554Trp)
|
rs9809219
|
0.00001
|
NM_004168.4(SDHA):c.1754G>A (p.Arg585Gln)
|
rs752360961
|
0.00001
|
NM_004168.4(SDHA):c.1795-3C>G
|
rs544544409
|
0.00001
|
NM_004168.4(SDHA):c.1909-2A>G
|
rs747939816
|
0.00001
|
NM_004168.4(SDHA):c.562C>T (p.Arg188Trp)
|
rs553257776
|
0.00001
|
NM_004168.4(SDHA):c.818C>T (p.Thr273Ile)
|
rs587781720
|
0.00001
|
NM_004168.4(SDHA):c.923C>T (p.Thr308Met)
|
rs1457666982
|
0.00001
|
NM_004187.5(KDM5C):c.1660C>A (p.Pro554Thr)
|
rs387906729
|
0.00001
|
NM_004360.5(CDH1):c.1566-1G>C
|
rs113583899
|
0.00001
|
NM_004380.3(CREBBP):c.5356C>T (p.Arg1786Cys)
|
rs1555471394
|
0.00001
|
NM_004415.4(DSP):c.7641C>G (p.Tyr2547Ter)
|
rs1464253797
|
0.00001
|
NM_004612.4(TGFBR1):c.934G>A (p.Gly312Ser)
|
rs760079636
|
0.00001
|
NM_004655.4(AXIN2):c.1201-2A>G
|
rs775783026
|
0.00001
|
NM_004863.4(SPTLC2):c.547C>T (p.Arg183Trp)
|
rs775437084
|
0.00001
|
NM_004870.4(MPDU1):c.19G>T (p.Gly7Ter)
|
rs555710402
|
0.00001
|
NM_005422.4(TECTA):c.5597C>T (p.Thr1866Met)
|
rs140236996
|
0.00001
|
NM_005431.2(XRCC2):c.39+1G>A
|
rs560785131
|
0.00001
|
NM_005431.2(XRCC2):c.39+2T>A
|
rs758499439
|
0.00001
|
NM_005431.2(XRCC2):c.49C>T (p.Arg17Ter)
|
rs750903875
|
0.00001
|
NM_005477.3(HCN4):c.1454C>T (p.Ala485Val)
|
rs1454748709
|
0.00001
|
NM_005548.3(KARS1):c.22G>T (p.Glu8Ter)
|
rs869312925
|
0.00001
|
NM_005591.4(MRE11):c.1225+2T>C
|
rs145058858
|
0.00001
|
NM_005591.4(MRE11):c.1326+2T>G
|
rs1475506136
|
0.00001
|
NM_005591.4(MRE11):c.2070+2T>A
|
rs786202801
|
0.00001
|
NM_005591.4(MRE11):c.315-2A>G
|
rs876659145
|
0.00001
|
NM_005732.4(RAD50):c.1052-2A>C
|
rs876660957
|
0.00001
|
NM_005732.4(RAD50):c.129+2T>A
|
rs748086984
|
0.00001
|
NM_005732.4(RAD50):c.130-1G>T
|
rs876658784
|
0.00001
|
NM_005732.4(RAD50):c.1794-1G>A
|
rs587781742
|
0.00001
|
NM_005732.4(RAD50):c.213+1G>T
|
rs765484171
|
0.00001
|
NM_005732.4(RAD50):c.3164+1G>T
|
rs786203805
|
0.00001
|
NM_005732.4(RAD50):c.3939A>T (p.Ter1313Tyr)
|
rs121912629
|
0.00001
|
NM_005732.4(RAD50):c.552-1G>A
|
rs1236278956
|
0.00001
|
NM_005732.4(RAD50):c.756+2T>C
|
rs764122619
|
0.00001
|
NM_006415.4(SPTLC1):c.431T>A (p.Val144Asp)
|
rs119482083
|
0.00001
|
NM_006745.5(MSMO1):c.731A>G (p.Tyr244Cys)
|
rs760048191
|
0.00001
|
NM_006767.4(LZTR1):c.1785+1G>A
|
rs145594158
|
0.00001
|
NM_006767.4(LZTR1):c.320G>C (p.Arg107Thr)
|
rs1301901369
|
0.00001
|
NM_006767.4(LZTR1):c.401-2_401-1del
|
rs769200796
|
0.00001
|
NM_006767.4(LZTR1):c.651+1G>T
|
rs1450044732
|
0.00001
|
NM_006912.6(RIT1):c.251C>T (p.Ala84Val)
|
rs869025196
|
0.00001
|
NM_007194.4(CHEK2):c.1039G>A (p.Asp347Asn)
|
rs28909980
|
0.00001
|
NM_007194.4(CHEK2):c.1462-1G>A
|
rs1060502698
|
0.00001
|
NM_007194.4(CHEK2):c.319+1G>A
|
rs765080766
|
0.00001
|
NM_007194.4(CHEK2):c.427C>T (p.His143Tyr)
|
rs1060502688
|
0.00001
|
NM_007194.4(CHEK2):c.499G>A (p.Gly167Arg)
|
rs72552322
|
0.00001
|
NM_007194.4(CHEK2):c.592+3A>T
|
rs587782849
|
0.00001
|
NM_007194.4(CHEK2):c.792+2T>C
|
rs545982789
|
0.00001
|
NM_007194.4(CHEK2):c.846+1G>C
|
rs864622149
|
0.00001
|
NM_007294.4(BRCA1):c.4096+1G>A
|
rs80358178
|
0.00001
|
NM_007294.4(BRCA1):c.4097-2A>G
|
rs80358019
|
0.00001
|
NM_007294.4(BRCA1):c.4185+4105C>T
|
rs1597853155
|
0.00001
|
NM_007294.4(BRCA1):c.5407-25T>A
|
rs758780152
|
0.00001
|
NM_014251.3(SLC25A13):c.1763G>A (p.Arg588Gln)
|
rs121908532
|
0.00001
|
NM_014362.4(HIBCH):c.365A>G (p.Tyr122Cys)
|
rs121918329
|
0.00001
|
NM_014822.4(SEC24D):c.1824+1G>T
|
rs1365665482
|
0.00001
|
NM_015039.4(NMNAT2):c.695G>A (p.Arg232Gln)
|
rs768849266
|
0.00001
|
NM_015450.3(POT1):c.1506-1G>A
|
rs1418539002
|
0.00001
|
NM_015450.3(POT1):c.233T>C (p.Ile78Thr)
|
rs947005337
|
0.00001
|
NM_015915.5(ATL1):c.1246C>T (p.Arg416Cys)
|
rs387906941
|
0.00001
|
NM_015915.5(ATL1):c.1483C>T (p.Arg495Trp)
|
rs864622269
|
0.00001
|
NM_016030.6(TRAPPC12):c.1530+1G>A
|
rs369187357
|
0.00001
|
NM_016030.6(TRAPPC12):c.1880C>T (p.Ala627Val)
|
rs768950892
|
0.00001
|
NM_016035.5(COQ4):c.469C>A (p.Gln157Lys)
|
rs1045118320
|
0.00001
|
NM_016180.5(SLC45A2):c.454T>C (p.Phe152Leu)
|
rs202120684
|
0.00001
|
NM_016401.4(HIKESHI):c.164A>G (p.Tyr55Cys)
|
rs1387003933
|
0.00001
|
NM_017547.4(FOXRED1):c.874G>A (p.Gly292Arg)
|
rs749110767
|
0.00001
|
NM_017654.4(SAMD9):c.2944C>T (p.Arg982Cys)
|
rs1247438528
|
0.00001
|
NM_017739.4(POMGNT1):c.1490G>A (p.Arg497Gln)
|
rs573518562
|
0.00001
|
NM_017775.4(TTC19):c.1A>G (p.Met1Val)
|
rs749196122
|
0.00001
|
NM_017802.4(DNAAF5):c.1615-2A>G
|
rs371542660
|
0.00001
|
NM_017837.4(PIGV):c.1253C>A (p.Ala418Asp)
|
rs1271144650
|
0.00001
|
NM_017841.4(SDHAF2):c.347G>A (p.Trp116Ter)
|
rs876658350
|
0.00001
|
NM_017841.4(SDHAF2):c.37-1G>C
|
rs761956866
|
0.00001
|
NM_017841.4(SDHAF2):c.37-2A>G
|
rs1344681005
|
0.00001
|
NM_017841.4(SDHAF2):c.371-2A>G
|
rs375280597
|
0.00001
|
NM_017882.3(CLN6):c.486+1G>A
|
rs756522171
|
0.00001
|
NM_017950.4(CCDC40):c.2832+4A>T
|
rs756602466
|
0.00001
|
NM_018052.5(VAC14):c.2005G>T (p.Val669Leu)
|
rs1363536856
|
0.00001
|
NM_018082.6(POLR3B):c.1263+1G>A
|
rs1565893138
|
0.00001
|
NM_018941.4(CLN8):c.209G>A (p.Arg70His)
|
rs386834124
|
0.00001
|
NM_018941.4(CLN8):c.473A>G (p.Tyr158Cys)
|
rs386834130
|
0.00001
|
NM_019109.5(ALG1):c.1312C>T (p.Arg438Trp)
|
rs16835020
|
0.00001
|
NM_019892.6(INPP5E):c.1687C>T (p.Arg563Cys)
|
rs371960390
|
0.00001
|
NM_020964.3(EPG5):c.1678-1G>A
|
rs755928939
|
0.00001
|
NM_022041.4(GAN):c.1456G>A (p.Glu486Lys)
|
rs119485088
|
0.00001
|
NM_022041.4(GAN):c.851+1G>A
|
rs747291494
|
0.00001
|
NM_022167.4(XYLT2):c.1687C>T (p.Arg563Cys)
|
rs150417924
|
0.00001
|
NM_024063.3(AFG2B):c.2066G>T (p.Gly689Val)
|
rs777812455
|
0.00001
|
NM_024120.5(NDUFAF5):c.155A>C (p.Lys52Thr)
|
rs531254130
|
0.00001
|
NM_024301.5(FKRP):c.1343C>T (p.Pro448Leu)
|
rs104894681
|
0.00001
|
NM_024301.5(FKRP):c.544T>C (p.Tyr182His)
|
rs753390261
|
0.00001
|
NM_024417.5(FDXR):c.394-1G>C
|
rs370799304
|
0.00001
|
NM_024422.6(DSC2):c.631-2A>G
|
rs397514042
|
0.00001
|
NM_024577.4(SH3TC2):c.386-2A>C
|
rs145670786
|
0.00001
|
NM_024675.4(PALB2):c.108+1G>A
|
rs1060499814
|
0.00001
|
NM_024675.4(PALB2):c.2748+2dup
|
rs1370694908
|
0.00001
|
NM_024675.4(PALB2):c.3113+5G>C
|
rs876659463
|
0.00001
|
NM_024675.4(PALB2):c.3201+1G>T
|
rs587776423
|
0.00001
|
NM_024675.4(PALB2):c.3350+4A>C
|
rs180177136
|
0.00001
|
NM_024675.4(PALB2):c.3350+5G>A
|
rs587782566
|
0.00001
|
NM_025099.6(CTC1):c.150G>A (p.Trp50Ter)
|
rs202213253
|
0.00001
|
NM_030630.3(HID1):c.2002C>T (p.Arg668Ter)
|
rs752532048
|
0.00001
|
NM_031229.4(RBCK1):c.1411G>A (p.Glu471Lys)
|
rs1342598444
|
0.00001
|
NM_031263.4(HNRNPK):c.65G>A (p.Arg22His)
|
rs1397068742
|
0.00001
|
NM_031885.5(BBS2):c.2107C>T (p.Arg703Ter)
|
rs567573386
|
0.00001
|
NM_032043.3(BRIP1):c.1794+1G>A
|
rs766516963
|
0.00001
|
NM_032043.3(BRIP1):c.1794+1G>C
|
rs766516963
|
0.00001
|
NM_032043.3(BRIP1):c.2379+1G>A
|
rs1555590286
|
0.00001
|
NM_032043.3(BRIP1):c.2905+3A>G
|
rs1555573247
|
0.00001
|
NM_032043.3(BRIP1):c.3230T>G (p.Leu1077Ter)
|
rs1420431000
|
0.00001
|
NM_032043.3(BRIP1):c.3525dup (p.Ile1176fs)
|
rs777367075
|
0.00001
|
NM_033409.4(SLC52A3):c.1313T>C (p.Leu438Pro)
|
rs1167512470
|
0.00001
|
NM_058216.3(RAD51C):c.1005C>A (p.Cys335Ter)
|
rs759292615
|
0.00001
|
NM_058216.3(RAD51C):c.404+2T>C
|
rs730881931
|
0.00001
|
NM_058216.3(RAD51C):c.414G>C (p.Leu138Phe)
|
rs267606999
|
0.00001
|
NM_058216.3(RAD51C):c.572-2A>G
|
rs145310733
|
0.00001
|
NM_058216.3(RAD51C):c.904+5G>T
|
rs587782702
|
0.00001
|
NM_058216.3(RAD51C):c.905-2A>C
|
rs779582317
|
0.00001
|
NM_058216.3(RAD51C):c.905-2del
|
rs876658652
|
0.00001
|
NM_130468.4(CHST14):c.958C>T (p.Arg320Ter)
|
rs1555410784
|
0.00001
|
NM_144997.7(FLCN):c.1433-2A>G
|
rs398124528
|
0.00001
|
NM_145199.3(LIPT1):c.131A>G (p.Asn44Ser)
|
rs1468529365
|
0.00001
|
NM_152268.4(PARS2):c.836C>T (p.Ser279Leu)
|
rs730882153
|
0.00001
|
NM_152490.5(B3GALNT2):c.762+1G>A
|
rs757347274
|
0.00001
|
NM_152558.5(IQCE):c.1333C>T (p.Arg445Ter)
|
rs753670589
|
0.00001
|
NM_153240.5(NPHP3):c.1920T>G (p.Asp640Glu)
|
rs869312915
|
0.00001
|
NM_153704.6(TMEM67):c.725A>G (p.Asn242Ser)
|
rs775883520
|
0.00001
|
NM_170707.4(LMNA):c.1608+5G>A
|
rs267607539
|
0.00001
|
NM_170707.4(LMNA):c.1745G>A (p.Arg582His)
|
rs57830985
|
0.00001
|
NM_170707.4(LMNA):c.274C>T (p.Leu92Phe)
|
rs267607560
|
0.00001
|
NM_170707.4(LMNA):c.640-10A>G
|
rs80356807
|
0.00001
|
NM_170707.4(LMNA):c.725C>T (p.Ala242Val)
|
rs397517906
|
0.00001
|
NM_172107.4(KCNQ2):c.1627G>A (p.Val543Met)
|
rs794727134
|
0.00001
|
NM_173659.5(RPUSD3):c.724C>T (p.His242Tyr)
|
rs142932960
|
0.00001
|
NM_174916.3(UBR1):c.2260C>T (p.Arg754Cys)
|
rs1388367359
|
0.00001
|
NM_175914.5(HNF4A):c.733C>T (p.Arg245Cys)
|
rs1290868034
|
0.00001
|
NM_181486.4(TBX5):c.710G>A (p.Arg237Gln)
|
rs104894378
|
0.00001
|
NM_181882.3(PRX):c.1102C>T (p.Arg368Ter)
|
rs104894715
|
0.00001
|
NM_194318.4(B3GLCT):c.459+1G>A
|
rs767361165
|
0.00001
|
NM_198253.3(TERT):c.1700C>T (p.Thr567Met)
|
rs886039438
|
0.00001
|
NM_198253.3(TERT):c.2080G>A (p.Val694Met)
|
rs121918662
|
0.00001
|
NM_198253.3(TERT):c.2701C>T (p.Arg901Trp)
|
rs199422304
|
0.00001
|
NM_198253.3(TERT):c.2812C>T (p.Arg938Trp)
|
rs1422814635
|
0.00001
|
NC_000004.11:g.15589466_15589468delGAA
|
rs794729225
|
|
NC_000009.12:g.95482199_95482204del
|
|
|
NM_000018.4(ACADVL):c.637G>A (p.Ala213Thr)
|
rs140629318
|
|
NM_000018.4(ACADVL):c.829_831del (p.Glu277del)
|
rs796051913
|
|
NM_000020.3(ACVRL1):c.1012G>T (p.Val338Phe)
|
|
|
NM_000020.3(ACVRL1):c.1027_1047del (p.Gln343_Leu349del)
|
rs1592224385
|
|
NM_000020.3(ACVRL1):c.1030T>C (p.Cys344Arg)
|
rs1592224412
|
|
NM_000020.3(ACVRL1):c.1048G>A (p.Gly350Ser)
|
|
|
NM_000020.3(ACVRL1):c.1049-1G>A
|
rs1060503242
|
|
NM_000020.3(ACVRL1):c.1055C>A (p.Ala352Asp)
|
rs1085307415
|
|
NM_000020.3(ACVRL1):c.1123T>C (p.Tyr375His)
|
|
|
NM_000020.3(ACVRL1):c.1136A>C (p.Glu379Ala)
|
|
|
NM_000020.3(ACVRL1):c.1195T>G (p.Trp399Gly)
|
rs1085307418
|
|
NM_000020.3(ACVRL1):c.1196G>C (p.Trp399Ser)
|
rs121909289
|
|
NM_000020.3(ACVRL1):c.1199C>A (p.Ala400Asp)
|
rs2139076990
|
|
NM_000020.3(ACVRL1):c.1208T>C (p.Leu403Pro)
|
|
|
NM_000020.3(ACVRL1):c.1246G>A (p.Gly416Ser)
|
rs1592225112
|
|
NM_000020.3(ACVRL1):c.1273T>A (p.Phe425Ile)
|
|
|
NM_000020.3(ACVRL1):c.1275C>G (p.Phe425Leu)
|
|
|
NM_000020.3(ACVRL1):c.1277A>G (p.Tyr426Cys)
|
rs771606504
|
|
NM_000020.3(ACVRL1):c.1297C>T (p.Pro433Ser)
|
rs2139084154
|
|
NM_000020.3(ACVRL1):c.1315AAG[1] (p.Lys440del)
|
rs1940907616
|
|
NM_000020.3(ACVRL1):c.1346C>T (p.Pro449Leu)
|
rs2139084385
|
|
NM_000020.3(ACVRL1):c.1378-78T>G
|
|
|
NM_000020.3(ACVRL1):c.137G>C (p.Cys46Ser)
|
rs1555152454
|
|
NM_000020.3(ACVRL1):c.1398_1399del (p.Gln466fs)
|
|
|
NM_000020.3(ACVRL1):c.140G>C (p.Arg47Pro)
|
rs774389618
|
|
NM_000020.3(ACVRL1):c.143G>A (p.Gly48Glu)
|
rs267606632
|
|
NM_000020.3(ACVRL1):c.1451G>C (p.Arg484Pro)
|
rs863223408
|
|
NM_000020.3(ACVRL1):c.1456A>G (p.Lys486Glu)
|
|
|
NM_000020.3(ACVRL1):c.1466T>C (p.Leu489Pro)
|
rs1057523573
|
|
NM_000020.3(ACVRL1):c.154A>C (p.Thr52Pro)
|
|
|
NM_000020.3(ACVRL1):c.229T>C (p.Cys77Arg)
|
|
|
NM_000020.3(ACVRL1):c.235G>A (p.Gly79Arg)
|
|
|
NM_000020.3(ACVRL1):c.265T>C (p.Cys89Arg)
|
rs1555152520
|
|
NM_000020.3(ACVRL1):c.287A>G (p.Asn96Ser)
|
|
|
NM_000020.3(ACVRL1):c.313+2T>C
|
|
|
NM_000020.3(ACVRL1):c.313_313+1del
|
|
|
NM_000020.3(ACVRL1):c.526-1G>A
|
rs1565593274
|
|
NM_000020.3(ACVRL1):c.526-1G>C
|
|
|
NM_000020.3(ACVRL1):c.526-6C>G
|
rs1438077609
|
|
NM_000020.3(ACVRL1):c.526-7C>A
|
rs772776468
|
|
NM_000020.3(ACVRL1):c.526-7C>G
|
|
|
NM_000020.3(ACVRL1):c.62-36_66delinsTGAAG
|
|
|
NM_000020.3(ACVRL1):c.625+1G>A
|
|
|
NM_000020.3(ACVRL1):c.625G>A (p.Gly209Arg)
|
rs1940766958
|
|
NM_000020.3(ACVRL1):c.625G>C (p.Gly209Arg)
|
|
|
NM_000020.3(ACVRL1):c.641G>T (p.Gly214Val)
|
|
|
NM_000020.3(ACVRL1):c.643G>A (p.Glu215Lys)
|
rs754283265
|
|
NM_000020.3(ACVRL1):c.706G>A (p.Glu236Lys)
|
rs1592223490
|
|
NM_000020.3(ACVRL1):c.760_762del (p.Asp254del)
|
rs387906393
|
|
NM_000020.3(ACVRL1):c.772G>A (p.Gly258Ser)
|
rs1555152966
|
|
NM_000020.3(ACVRL1):c.794_799del (p.Thr265_Arg267delinsSer)
|
|
|
NM_000020.3(ACVRL1):c.824T>C (p.Leu275Pro)
|
|
|
NM_000020.3(ACVRL1):c.830C>A (p.Thr277Lys)
|
rs750085854
|
|
NM_000020.3(ACVRL1):c.835_837dup (p.Tyr279_His280insTyr)
|
|
|
NM_000020.3(ACVRL1):c.839A>G (p.His280Arg)
|
|
|
NM_000020.3(ACVRL1):c.851C>T (p.Ser284Phe)
|
rs768643771
|
|
NM_000020.3(ACVRL1):c.853C>T (p.Leu285Phe)
|
rs1085307410
|
|
NM_000020.3(ACVRL1):c.854T>C (p.Leu285Pro)
|
rs1085307411
|
|
NM_000020.3(ACVRL1):c.905T>C (p.Leu302Pro)
|
rs1565594217
|
|
NM_000020.3(ACVRL1):c.914C>T (p.Ser305Phe)
|
rs1555153126
|
|
NM_000020.3(ACVRL1):c.920C>A (p.Ala307Glu)
|
rs863223411
|
|
NM_000020.3(ACVRL1):c.926G>T (p.Gly309Val)
|
|
|
NM_000020.3(ACVRL1):c.956G>A (p.Gly319Asp)
|
|
|
NM_000020.3(ACVRL1):c.988G>A (p.Asp330Asn)
|
|
|
NM_000020.3(ACVRL1):c.988_990delinsTGG (p.Asp330Trp)
|
|
|
NM_000027.4(AGA):c.394+1G>A
|
|
|
NM_000033.4(ABCD1):c.1010A>G (p.Tyr337Cys)
|
rs2091726692
|
|
NM_000033.4(ABCD1):c.1547T>C (p.Leu516Pro)
|
|
|
NM_000033.4(ABCD1):c.1585G>A (p.Gly529Ser)
|
rs2148397619
|
|
NM_000033.4(ABCD1):c.1772G>A (p.Arg591Gln)
|
rs1557054873
|
|
NM_000033.4(ABCD1):c.1820G>A (p.Gly607Asp)
|
rs2091772324
|
|
NM_000033.4(ABCD1):c.346G>A (p.Gly116Arg)
|
rs398123110
|
|
NM_000033.4(ABCD1):c.488G>A (p.Arg163His)
|
rs1057517954
|
|
NM_000033.4(ABCD1):c.565C>T (p.Arg189Trp)
|
rs1131691916
|
|
NM_000033.4(ABCD1):c.761C>T (p.Thr254Met)
|
rs1131691743
|
|
NM_000033.4(ABCD1):c.785C>G (p.Ser262Trp)
|
rs1204814114
|
|
NM_000033.4(ABCD1):c.887A>G (p.Tyr296Cys)
|
rs797044610
|
|
NM_000033.4(ABCD1):c.953A>T (p.Asn318Ile)
|
|
|
NM_000038.6(APC):c.1312+1G>T
|
rs863225310
|
|
NM_000038.6(APC):c.135+1G>C
|
|
|
NM_000038.6(APC):c.135+1G>T
|
rs750508765
|
|
NM_000038.6(APC):c.136-1G>A
|
rs1554069481
|
|
NM_000038.6(APC):c.1409-3T>G
|
rs1554081629
|
|
NM_000038.6(APC):c.1549-8A>G
|
|
|
NM_000038.6(APC):c.1626+2T>G
|
rs876658858
|
|
NM_000038.6(APC):c.1627-3C>A
|
|
|
NM_000038.6(APC):c.1743+1G>T
|
rs761458613
|
|
NM_000038.6(APC):c.1743+2T>A
|
|
|
NM_000038.6(APC):c.1743+2T>C
|
|
|
NM_000038.6(APC):c.1743G>C (p.Lys581Asn)
|
rs1114167592
|
|
NM_000038.6(APC):c.1743G>T (p.Lys581Asn)
|
|
|
NM_000038.6(APC):c.1902T>G (p.Ser634Arg)
|
rs876659460
|
|
NM_000038.6(APC):c.1959-2A>C
|
|
|
NM_000038.6(APC):c.1959-2A>G
|
rs876658214
|
|
NM_000038.6(APC):c.1987C>T (p.Gln663Ter)
|
rs730881240
|
|
NM_000038.6(APC):c.220+3A>G
|
rs1554069573
|
|
NM_000038.6(APC):c.221-1G>A
|
rs863225327
|
|
NM_000038.6(APC):c.2877_2898del (p.Asn961fs)
|
|
|
NM_000038.6(APC):c.3077A>C (p.Asn1026Thr)
|
rs1114167603
|
|
NM_000038.6(APC):c.3077A>G (p.Asn1026Ser)
|
rs1114167603
|
|
NM_000038.6(APC):c.3443_3444del (p.Tyr1147_Ser1148insTer)
|
rs1765424969
|
|
NM_000038.6(APC):c.3472A>T (p.Arg1158Ter)
|
rs587779790
|
|
NM_000038.6(APC):c.386A>T (p.Glu129Val)
|
rs759662717
|
|
NM_000038.6(APC):c.4139C>T (p.Thr1380Ile)
|
rs876660713
|
|
NM_000038.6(APC):c.422+2T>C
|
rs879254169
|
|
NM_000038.6(APC):c.423-3958C>T
|
|
|
NM_000038.6(APC):c.423-3_423-2del
|
rs863225354
|
|
NM_000038.6(APC):c.423-8A>G
|
rs2149614206
|
|
NM_000038.6(APC):c.4373_4380del (p.Pro1458fs)
|
|
|
NM_000038.6(APC):c.4732T>C (p.Cys1578Arg)
|
rs138367627
|
|
NM_000038.6(APC):c.4732T>G (p.Cys1578Gly)
|
rs138367627
|
|
NM_000038.6(APC):c.4735A>T (p.Ile1579Phe)
|
rs587781935
|
|
NM_000038.6(APC):c.4778dup (p.Pro1594fs)
|
|
|
NM_000038.6(APC):c.5155G>T (p.Glu1719Ter)
|
|
|
NM_000038.6(APC):c.531+3A>C
|
rs1114167550
|
|
NM_000038.6(APC):c.531+5G>A
|
rs587779798
|
|
NM_000038.6(APC):c.532-934A>T
|
|
|
NM_000038.6(APC):c.6102del (p.Glu2035fs)
|
rs2149957064
|
|
NM_000038.6(APC):c.6281del (p.Pro2094fs)
|
rs876660816
|
|
NM_000038.6(APC):c.645+2T>G
|
rs786202351
|
|
NM_000038.6(APC):c.6567del (p.Gly2190fs)
|
|
|
NM_000038.6(APC):c.6760A>T (p.Lys2254Ter)
|
rs2149972499
|
|
NM_000038.6(APC):c.6919dup (p.Ser2307fs)
|
|
|
NM_000038.6(APC):c.7513C>T (p.Arg2505Ter)
|
rs79630786
|
|
NM_000038.6(APC):c.7570A>T (p.Lys2524Ter)
|
|
|
NM_000038.6(APC):c.7612A>T (p.Arg2538Ter)
|
|
|
NM_000038.6(APC):c.7664C>A (p.Ser2555Ter)
|
|
|
NM_000038.6(APC):c.7692dup (p.Arg2565fs)
|
rs1554088600
|
|
NM_000038.6(APC):c.7803_7807del (p.Ser2601fs)
|
rs1580686729
|
|
NM_000038.6(APC):c.7928dup (p.Ile2644fs)
|
|
|
NM_000038.6(APC):c.7935T>A (p.Tyr2645Ter)
|
|
|
NM_000038.6(APC):c.7964_7965del (p.Glu2655fs)
|
rs2149997043
|
|
NM_000038.6(APC):c.8099_8102del (p.Asn2700fs)
|
rs1580690024
|
|
NM_000038.6(APC):c.8310_8311del (p.His2770fs)
|
rs1561622234
|
|
NM_000038.6(APC):c.8332dup (p.Ala2778fs)
|
|
|
NM_000038.6(APC):c.835-17A>G
|
rs1580511131
|
|
NM_000038.6(APC):c.835-8A>G
|
rs1064793022
|
|
NM_000038.6(APC):c.8425dup (p.Val2809fs)
|
rs1580693467
|
|
NM_000038.6(APC):c.8430dup (p.Asn2811Ter)
|
|
|
NM_000038.6(APC):c.8435del (p.Asn2812fs)
|
rs1766745307
|
|
NM_000038.6(APC):c.8446C>T (p.Arg2816Ter)
|
|
|
NM_000038.6(APC):c.933+2T>G
|
rs1057517559
|
|
NM_000038.6(APC):c.933G>A (p.Lys311=)
|
|
|
NM_000038.6(APC):c.933G>C (p.Lys311Asn)
|
rs1762431806
|
|
NM_000046.5(ARSB):c.730C>A (p.Pro244Thr)
|
rs1751681202
|
|
NM_000049.4(ASPA):c.502C>T (p.Arg168Cys)
|
rs937670540
|
|
NM_000049.4(ASPA):c.80G>T (p.Gly27Val)
|
|
|
NM_000051.3:c.2839-3insALU
|
|
|
NM_000051.3:c.3167_3168insALU
|
|
|
NM_000051.3:c.435_436insALU
|
|
|
NM_000051.3:c.4479_4480insL1
|
|
|
NM_000051.3:c.5770_5771insALU
|
|
|
NM_000051.3:c.5889_5890insALU
|
|
|
NM_000051.3:c.7374_7375insAlu
|
|
|
NM_000051.4(ATM):c.1065+1G>C
|
rs201089102
|
|
NM_000051.4(ATM):c.1065+1G>T
|
rs201089102
|
|
NM_000051.4(ATM):c.1066-1G>A
|
rs876660038
|
|
NM_000051.4(ATM):c.1066-2A>T
|
rs1555069514
|
|
NM_000051.4(ATM):c.1066-3_1072del
|
rs1591517089
|
|
NM_000051.4(ATM):c.1236-1G>C
|
rs1408719214
|
|
NM_000051.4(ATM):c.1236-2del
|
rs1565381646
|
|
NM_000051.4(ATM):c.1514T>C (p.Phe505Ser)
|
rs1555071109
|
|
NM_000051.4(ATM):c.1547T>C (p.Leu516Ser)
|
rs786202195
|
|
NM_000051.4(ATM):c.1607+1del
|
|
|
NM_000051.4(ATM):c.1608-1G>A
|
rs1565385010
|
|
NM_000051.4(ATM):c.1700A>G (p.Asn567Ser)
|
rs786203230
|
|
NM_000051.4(ATM):c.172G>T (p.Asp58Tyr)
|
rs876660661
|
|
NM_000051.4(ATM):c.1783_1802+91del
|
rs1555072063
|
|
NM_000051.4(ATM):c.1803-1G>A
|
|
|
NM_000051.4(ATM):c.1803-2A>G
|
rs1057517358
|
|
NM_000051.4(ATM):c.1844T>C (p.Leu615Pro)
|
rs786203783
|
|
NM_000051.4(ATM):c.1847_1849del (p.Thr616del)
|
|
|
NM_000051.4(ATM):c.185+1G>A
|
rs112805604
|
|
NM_000051.4(ATM):c.185+1del
|
rs2078826294
|
|
NM_000051.4(ATM):c.186-1G>T
|
|
|
NM_000051.4(ATM):c.186-1del
|
|
|
NM_000051.4(ATM):c.1899-1G>T
|
rs1555073065
|
|
NM_000051.4(ATM):c.1899-20A>C
|
|
|
NM_000051.4(ATM):c.2124+1G>A
|
rs1555073553
|
|
NM_000051.4(ATM):c.2124+1G>T
|
rs1555073553
|
|
NM_000051.4(ATM):c.2125-2A>G
|
|
|
NM_000051.4(ATM):c.2125-910T>G
|
|
|
NM_000051.4(ATM):c.2149C>A (p.Arg717=)
|
rs147515380
|
|
NM_000051.4(ATM):c.2250+2T>C
|
rs1555075037
|
|
NM_000051.4(ATM):c.2251-1G>A
|
rs876659710
|
|
NM_000051.4(ATM):c.2251-1G>C
|
rs876659710
|
|
NM_000051.4(ATM):c.2251-2A>C
|
|
|
NM_000051.4(ATM):c.2251-4A>G
|
rs786202935
|
|
NM_000051.4(ATM):c.2376+1G>C
|
rs730881347
|
|
NM_000051.4(ATM):c.2376+2dup
|
|
|
NM_000051.4(ATM):c.2376G>A (p.Lys792=)
|
rs754267376
|
|
NM_000051.4(ATM):c.2455T>C (p.Cys819Arg)
|
rs775644968
|
|
NM_000051.4(ATM):c.2463T>G (p.Ser821Arg)
|
rs864622412
|
|
NM_000051.4(ATM):c.2466+1G>A
|
rs914092098
|
|
NM_000051.4(ATM):c.2466+5G>A
|
rs1064795969
|
|
NM_000051.4(ATM):c.2466+5G>C
|
rs1064795969
|
|
NM_000051.4(ATM):c.2467-2A>T
|
rs1555082050
|
|
NM_000051.4(ATM):c.2638+1G>T
|
rs2135509713
|
|
NM_000051.4(ATM):c.2638+1del
|
rs1131691153
|
|
NM_000051.4(ATM):c.2638+2T>C
|
rs587779826
|
|
NM_000051.4(ATM):c.2639-7_2639-2del
|
|
|
NM_000051.4(ATM):c.2838+1G>T
|
rs1555083469
|
|
NM_000051.4(ATM):c.2839-2A>G
|
rs1060501703
|
|
NM_000051.4(ATM):c.2839-3_2839delinsGATACTA
|
rs786202148
|
|
NM_000051.4(ATM):c.2849T>G (p.Leu950Arg)
|
rs786203054
|
|
NM_000051.4(ATM):c.2922-1G>T
|
rs1555084931
|
|
NM_000051.4(ATM):c.2929T>C (p.Cys977Arg)
|
rs2135551484
|
|
NM_000051.4(ATM):c.3065T>G (p.Ile1022Ser)
|
rs1591604769
|
|
NM_000051.4(ATM):c.3077+1G>A
|
rs192810283
|
|
NM_000051.4(ATM):c.3077+1G>T
|
rs192810283
|
|
NM_000051.4(ATM):c.3078-2A>G
|
|
|
NM_000051.4(ATM):c.3078-5T>C
|
rs1565427457
|
|
NM_000051.4(ATM):c.3092A>T (p.Glu1031Val)
|
rs758708495
|
|
NM_000051.4(ATM):c.3093G>T (p.Glu1031Asp)
|
|
|
NM_000051.4(ATM):c.3137T>C (p.Leu1046Pro)
|
rs568461905
|
|
NM_000051.4(ATM):c.3154-1G>T
|
rs1555085973
|
|
NM_000051.4(ATM):c.3248A>G (p.His1083Arg)
|
rs2081667850
|
|
NM_000051.4(ATM):c.3284+1G>A
|
rs864622129
|
|
NM_000051.4(ATM):c.3284+1G>C
|
rs864622129
|
|
NM_000051.4(ATM):c.3284G>A (p.Arg1095Lys)
|
rs587781815
|
|
NM_000051.4(ATM):c.331+2800A>G
|
|
|
NM_000051.4(ATM):c.331+2_331+7del
|
|
|
NM_000051.4(ATM):c.332-1G>C
|
|
|
NM_000051.4(ATM):c.3402+1G>A
|
rs1565439606
|
|
NM_000051.4(ATM):c.3402+2T>C
|
rs876659430
|
|
NM_000051.4(ATM):c.3402+3A>C
|
rs786203688
|
|
NM_000051.4(ATM):c.3403-1G>A
|
rs1555091120
|
|
NM_000051.4(ATM):c.3576+1G>A
|
rs876660621
|
|
NM_000051.4(ATM):c.3576+1G>T
|
rs876660621
|
|
NM_000051.4(ATM):c.3576G>T (p.Lys1192Asn)
|
rs587776551
|
|
NM_000051.4(ATM):c.3576_3576+7del
|
|
|
NM_000051.4(ATM):c.3577-1G>A
|
|
|
NM_000051.4(ATM):c.3577-1G>T
|
|
|
NM_000051.4(ATM):c.3577-201_3604delinsATCAAGAAAAGTTGAATGAATGTT
|
|
|
NM_000051.4(ATM):c.3577-2A>G
|
rs887358871
|
|
NM_000051.4(ATM):c.3677A>G (p.Asp1226Gly)
|
rs1555092445
|
|
NM_000051.4(ATM):c.3746+1G>T
|
rs2082309297
|
|
NM_000051.4(ATM):c.3747-1G>A
|
rs730881364
|
|
NM_000051.4(ATM):c.3747-1G>C
|
rs730881364
|
|
NM_000051.4(ATM):c.3878A>G (p.Asn1293Ser)
|
rs2082382534
|
|
NM_000051.4(ATM):c.3886C>T (p.Pro1296Ser)
|
rs864622654
|
|
NM_000051.4(ATM):c.3901G>T (p.Glu1301Ter)
|
|
|
NM_000051.4(ATM):c.3993+2T>A
|
|
|
NM_000051.4(ATM):c.3993G>C (p.Gln1331His)
|
rs863224566
|
|
NM_000051.4(ATM):c.3994-160T>C
|
rs2082548304
|
|
NM_000051.4(ATM):c.3994-1G>T
|
rs1057516238
|
|
NM_000051.4(ATM):c.4109+1G>A
|
rs879254034
|
|
NM_000051.4(ATM):c.4109+1G>T
|
rs879254034
|
|
NM_000051.4(ATM):c.4109+5G>A
|
rs2082568277
|
|
NM_000051.4(ATM):c.4110-1G>C
|
rs1060501692
|
|
NM_000051.4(ATM):c.4236+1G>T
|
rs876660674
|
|
NM_000051.4(ATM):c.434T>G (p.Leu145Arg)
|
rs1555059346
|
|
NM_000051.4(ATM):c.4394T>C (p.Leu1465Pro)
|
rs730881391
|
|
NM_000051.4(ATM):c.4435_4436+10del
|
|
|
NM_000051.4(ATM):c.4436+2T>C
|
rs1555097898
|
|
NM_000051.4(ATM):c.4436G>A (p.Arg1479Lys)
|
rs2135767002
|
|
NM_000051.4(ATM):c.4611+1del
|
rs1565461824
|
|
NM_000051.4(ATM):c.4612-3_4616del
|
rs773012957
|
|
NM_000051.4(ATM):c.4612G>T (p.Val1538Leu)
|
rs1034235291
|
|
NM_000051.4(ATM):c.4612_4621del (p.Val1538fs)
|
|
|
NM_000051.4(ATM):c.4888G>A (p.Asp1630Asn)
|
rs1555101921
|
|
NM_000051.4(ATM):c.4889A>G (p.Asp1630Gly)
|
rs1565466579
|
|
NM_000051.4(ATM):c.4905_4909+16del
|
|
|
NM_000051.4(ATM):c.4909+1G>T
|
rs756987454
|
|
NM_000051.4(ATM):c.496+1G>A
|
rs876658500
|
|
NM_000051.4(ATM):c.496+286A>G
|
|
|
NM_000051.4(ATM):c.496+334A>G
|
|
|
NM_000051.4(ATM):c.497-1142dup
|
|
|
NM_000051.4(ATM):c.497-1G>T
|
rs778624615
|
|
NM_000051.4(ATM):c.5177+2T>C
|
|
|
NM_000051.4(ATM):c.5178-1G>A
|
rs1555105579
|
|
NM_000051.4(ATM):c.5178-1G>T
|
rs1555105579
|
|
NM_000051.4(ATM):c.5189G>T (p.Arg1730Leu)
|
rs373789346
|
|
NM_000051.4(ATM):c.5236G>A (p.Gly1746Arg)
|
rs1060501571
|
|
NM_000051.4(ATM):c.5309C>T (p.Ser1770Leu)
|
|
|
NM_000051.4(ATM):c.5319+1G>A
|
rs876660175
|
|
NM_000051.4(ATM):c.5319+1G>T
|
rs876660175
|
|
NM_000051.4(ATM):c.5435_5437del (p.Ala1812_Phe1813delinsVal)
|
|
|
NM_000051.4(ATM):c.5496+1G>A
|
rs879254180
|
|
NM_000051.4(ATM):c.5496+2T>G
|
rs1591713093
|
|
NM_000051.4(ATM):c.5496+2_5496+5del
|
rs1565479572
|
|
NM_000051.4(ATM):c.5496+645T>G
|
|
|
NM_000051.4(ATM):c.5497-1G>A
|
rs876660245
|
|
NM_000051.4(ATM):c.5674+1G>T
|
rs1565482453
|
|
NM_000051.4(ATM):c.5675-3C>G
|
rs876658545
|
|
NM_000051.4(ATM):c.5762+1G>A
|
rs869312756
|
|
NM_000051.4(ATM):c.5762G>A (p.Arg1921Lys)
|
|
|
NM_000051.4(ATM):c.5763-18_5772del
|
|
|
NM_000051.4(ATM):c.5763-2A>G
|
rs876659489
|
|
NM_000051.4(ATM):c.5858C>T (p.Thr1953Ile)
|
rs587781963
|
|
NM_000051.4(ATM):c.5888A>G (p.Asp1963Gly)
|
rs1555110484
|
|
NM_000051.4(ATM):c.5918+1G>A
|
rs1591746871
|
|
NM_000051.4(ATM):c.5918+1G>T
|
rs1591746871
|
|
NM_000051.4(ATM):c.5918G>A (p.Arg1973Lys)
|
rs1555110591
|
|
NM_000051.4(ATM):c.5919-2A>G
|
rs746623393
|
|
NM_000051.4(ATM):c.59C>G (p.Ala20Gly)
|
rs2078809726
|
|
NM_000051.4(ATM):c.6006+1G>A
|
rs786202016
|
|
NM_000051.4(ATM):c.6006+1G>C
|
rs786202016
|
|
NM_000051.4(ATM):c.6006G>A (p.Gln2002=)
|
rs1591759073
|
|
NM_000051.4(ATM):c.6047A>G (p.Asp2016Gly)
|
rs587781302
|
|
NM_000051.4(ATM):c.6095+2T>C
|
rs1057516525
|
|
NM_000051.4(ATM):c.6095+4A>G
|
rs1555113632
|
|
NM_000051.4(ATM):c.6096-1G>C
|
rs1591778339
|
|
NM_000051.4(ATM):c.6096-2A>G
|
rs1057520704
|
|
NM_000051.4(ATM):c.6096-9_6096-5del
|
rs879254095
|
|
NM_000051.4(ATM):c.6115G>A (p.Glu2039Lys)
|
rs864622251
|
|
NM_000051.4(ATM):c.6198+3A>G
|
rs786202092
|
|
NM_000051.4(ATM):c.6203T>C (p.Leu2068Ser)
|
rs1555114558
|
|
NM_000051.4(ATM):c.6238T>G (p.Tyr2080Asp)
|
rs1064795467
|
|
NM_000051.4(ATM):c.6348-1G>A
|
rs1057517302
|
|
NM_000051.4(ATM):c.6348-1G>C
|
rs1057517302
|
|
NM_000051.4(ATM):c.6348-2A>C
|
|
|
NM_000051.4(ATM):c.6451A>C (p.Arg2151=)
|
|
|
NM_000051.4(ATM):c.6572+1G>A
|
rs587779856
|
|
NM_000051.4(ATM):c.6573-12C>A
|
rs1057521666
|
|
NM_000051.4(ATM):c.6573-1G>A
|
rs1591128291
|
|
NM_000051.4(ATM):c.6573-1G>C
|
rs1591128291
|
|
NM_000051.4(ATM):c.6573-1G>T
|
|
|
NM_000051.4(ATM):c.661A>T (p.Arg221Ter)
|
|
|
NM_000051.4(ATM):c.662+1G>A
|
rs1060501690
|
|
NM_000051.4(ATM):c.663-2A>G
|
rs886041931
|
|
NM_000051.4(ATM):c.663-3_663-2del
|
|
|
NM_000051.4(ATM):c.6672_6680delinsCTC (p.Met2224_Arg2227delinsIleSer)
|
rs1591129041
|
|
NM_000051.4(ATM):c.6807+1_6807+7del
|
|
|
NM_000051.4(ATM):c.6890A>C (p.Gln2297Pro)
|
rs1565520560
|
|
NM_000051.4(ATM):c.6975+1G>A
|
rs1565521129
|
|
NM_000051.4(ATM):c.6975+1G>T
|
rs1565521129
|
|
NM_000051.4(ATM):c.6975+2T>C
|
rs879254199
|
|
NM_000051.4(ATM):c.6976-10_6989del
|
rs587779859
|
|
NM_000051.4(ATM):c.6976-11_6976-8delinsATA
|
|
|
NM_000051.4(ATM):c.6976-1G>T
|
rs1591141963
|
|
NM_000051.4(ATM):c.6976-2A>C
|
rs587782403
|
|
NM_000051.4(ATM):c.6976-2A>G
|
rs587782403
|
|
NM_000051.4(ATM):c.7089+1G>A
|
rs777741666
|
|
NM_000051.4(ATM):c.7089+2T>G
|
rs1057516235
|
|
NM_000051.4(ATM):c.7089G>C (p.Lys2363Asn)
|
|
|
NM_000051.4(ATM):c.7181C>T (p.Ser2394Leu)
|
rs587779861
|
|
NM_000051.4(ATM):c.72+1del
|
|
|
NM_000051.4(ATM):c.7219T>C (p.Ser2407Pro)
|
rs1565526951
|
|
NM_000051.4(ATM):c.73-1G>A
|
rs1555054043
|
|
NM_000051.4(ATM):c.73-3C>G
|
rs1555054039
|
|
NM_000051.4(ATM):c.7307+2_7307+4delinsCC
|
|
|
NM_000051.4(ATM):c.7307+4A>G
|
rs730881316
|
|
NM_000051.4(ATM):c.7308-1G>C
|
rs1555122941
|
|
NM_000051.4(ATM):c.7308-2A>C
|
rs1555122938
|
|
NM_000051.4(ATM):c.7355T>C (p.Leu2452Pro)
|
rs1555123032
|
|
NM_000051.4(ATM):c.7408T>G (p.Tyr2470Asp)
|
rs876659365
|
|
NM_000051.4(ATM):c.7515+1G>C
|
|
|
NM_000051.4(ATM):c.7516-1G>A
|
|
|
NM_000051.4(ATM):c.7516-1G>C
|
|
|
NM_000051.4(ATM):c.7516-2A>G
|
|
|
NM_000051.4(ATM):c.7629+1G>A
|
rs1565532703
|
|
NM_000051.4(ATM):c.7629+1G>T
|
|
|
NM_000051.4(ATM):c.7630-12_7630-11del
|
|
|
NM_000051.4(ATM):c.7630-1G>A
|
rs2086285148
|
|
NM_000051.4(ATM):c.7630-2A>G
|
rs587779866
|
|
NM_000051.4(ATM):c.7630-3C>G
|
rs587782448
|
|
NM_000051.4(ATM):c.7788+1G>C
|
rs1565534524
|
|
NM_000051.4(ATM):c.7788+1G>T
|
rs1565534524
|
|
NM_000051.4(ATM):c.7788G>C (p.Glu2596Asp)
|
rs587780639
|
|
NM_000051.4(ATM):c.7789-1G>A
|
rs1591177953
|
|
NM_000051.4(ATM):c.7789-29_7789-16del
|
|
|
NM_000051.4(ATM):c.7789-4A>G
|
rs2086401774
|
|
NM_000051.4(ATM):c.7789G>T (p.Asp2597Tyr)
|
rs1555125212
|
|
NM_000051.4(ATM):c.7926A>T (p.Arg2642Ser)
|
|
|
NM_000051.4(ATM):c.7927+1G>A
|
rs1555125532
|
|
NM_000051.4(ATM):c.7983TGT[2] (p.Val2664del)
|
rs876660743
|
|
NM_000051.4(ATM):c.8010+1del
|
rs876659350
|
|
NM_000051.4(ATM):c.8010G>C (p.Lys2670Asn)
|
|
|
NM_000051.4(ATM):c.8011-1G>C
|
rs1555127017
|
|
NM_000051.4(ATM):c.8011-21_8015del
|
|
|
NM_000051.4(ATM):c.8096C>T (p.Pro2699Leu)
|
rs879254209
|
|
NM_000051.4(ATM):c.8122G>C (p.Asp2708His)
|
rs587782719
|
|
NM_000051.4(ATM):c.8122G>T (p.Asp2708Tyr)
|
rs587782719
|
|
NM_000051.4(ATM):c.8146G>T (p.Val2716Phe)
|
rs730881385
|
|
NM_000051.4(ATM):c.8148_8151+2del
|
rs1565541335
|
|
NM_000051.4(ATM):c.8151+1G>C
|
rs1591192583
|
|
NM_000051.4(ATM):c.8151G>A (p.Lys2717=)
|
rs1591192550
|
|
NM_000051.4(ATM):c.8152-18T>G
|
rs1591197705
|
|
NM_000051.4(ATM):c.8152-1G>A
|
rs1398616877
|
|
NM_000051.4(ATM):c.8161G>A (p.Asp2721Asn)
|
rs876659066
|
|
NM_000051.4(ATM):c.8248_8268del (p.Leu2750_Lys2756del)
|
rs771146489
|
|
NM_000051.4(ATM):c.8268+1G>A
|
rs876658957
|
|
NM_000051.4(ATM):c.8268+1G>T
|
rs876658957
|
|
NM_000051.4(ATM):c.8268G>A (p.Lys2756=)
|
rs1555128642
|
|
NM_000051.4(ATM):c.8268G>T (p.Lys2756Asn)
|
rs1555128642
|
|
NM_000051.4(ATM):c.8269-14A>G
|
|
|
NM_000051.4(ATM):c.8269-2A>G
|
|
|
NM_000051.4(ATM):c.8416_8418+5del
|
rs1591249480
|
|
NM_000051.4(ATM):c.8418+2T>C
|
rs1060501713
|
|
NM_000051.4(ATM):c.8418G>A (p.Met2806Ile)
|
rs762744146
|
|
NM_000051.4(ATM):c.8418G>T (p.Met2806Ile)
|
rs762744146
|
|
NM_000051.4(ATM):c.8419-1G>A
|
|
|
NM_000051.4(ATM):c.8419-1G>C
|
rs1555137920
|
|
NM_000051.4(ATM):c.8495G>C (p.Arg2832Pro)
|
rs529296539
|
|
NM_000051.4(ATM):c.8495G>T (p.Arg2832Leu)
|
rs529296539
|
|
NM_000051.4(ATM):c.8565T>G (p.Ser2855Arg)
|
rs780905851
|
|
NM_000051.4(ATM):c.8565_8566delinsAA (p.Ser2855_Val2856delinsArgIle)
|
rs587781353
|
|
NM_000051.4(ATM):c.8575TCT[1] (p.Ser2860del)
|
rs786203976
|
|
NM_000051.4(ATM):c.8584+16A>G
|
rs1322889530
|
|
NM_000051.4(ATM):c.8584+1G>A
|
rs876658182
|
|
NM_000051.4(ATM):c.8585-1G>A
|
rs876660066
|
|
NM_000051.4(ATM):c.8585-2A>G
|
rs1060501700
|
|
NM_000051.4(ATM):c.8671+1G>A
|
|
|
NM_000051.4(ATM):c.8671+2T>G
|
rs1057516229
|
|
NM_000051.4(ATM):c.8672-1G>A
|
rs876660088
|
|
NM_000051.4(ATM):c.8672-1G>T
|
rs876660088
|
|
NM_000051.4(ATM):c.8711A>G (p.Glu2904Gly)
|
rs786202826
|
|
NM_000051.4(ATM):c.8732_8752del (p.Thr2911_Gly2917del)
|
|
|
NM_000051.4(ATM):c.8737G>T (p.Asp2913Tyr)
|
rs756899044
|
|
NM_000051.4(ATM):c.8786_8786+3del
|
rs1060501569
|
|
NM_000051.4(ATM):c.8842_8850+3824del
|
|
|
NM_000051.4(ATM):c.8850+1G>A
|
rs1555143620
|
|
NM_000051.4(ATM):c.8850+1G>T
|
|
|
NM_000051.4(ATM):c.8850+2T>C
|
rs1555143623
|
|
NM_000051.4(ATM):c.8851-2A>G
|
rs886039647
|
|
NM_000051.4(ATM):c.8851-2A>T
|
|
|
NM_000051.4(ATM):c.8947_8951dup (p.Asn2985fs)
|
rs2091211325
|
|
NM_000051.4(ATM):c.902-1G>A
|
rs1064793518
|
|
NM_000051.4(ATM):c.9022C>A (p.Arg3008Ser)
|
rs587782292
|
|
NM_000051.4(ATM):c.9039dup (p.Gln3014fs)
|
rs879253972
|
|
NM_000051.4(ATM):c.9054del (p.Gly3019fs)
|
|
|
NM_000051.4(ATM):c.9071del (p.Thr3024fs)
|
|
|
NM_000051.4(ATM):c.9112C>T (p.Gln3038Ter)
|
rs1591387978
|
|
NM_000051.4(ATM):c.9170G>C (p.Ter3057Ser)
|
rs2091262802
|
|
NM_000053.4(ATP7B):c.2732C>T (p.Ala911Val)
|
rs1014184765
|
|
NM_000053.4(ATP7B):c.3557-2A>G
|
|
|
NM_000054.7(AVPR2):c.382_384del (p.Tyr128del)
|
rs1557100594
|
|
NM_000054.7(AVPR2):c.857C>T (p.Pro286Leu)
|
rs1557100917
|
|
NM_000057.2(BLM):c.-4-4929_82del
|
|
|
NM_000057.2:c.741_742insALU
|
|
|
NM_000057.4(BLM):c.2193+1G>A
|
rs865866188
|
|
NM_000057.4(BLM):c.2193+1G>T
|
rs865866188
|
|
NM_000057.4(BLM):c.2193+1_2193+9del
|
rs1060500652
|
|
NM_000057.4(BLM):c.2308-2A>G
|
rs1248548542
|
|
NM_000057.4(BLM):c.2555+1G>A
|
|
|
NM_000057.4(BLM):c.2555+1G>C
|
|
|
NM_000057.4(BLM):c.2556-2A>G
|
rs1596250255
|
|
NM_000057.4(BLM):c.2556G>T (p.Val852=)
|
rs1896650229
|
|
NM_000057.4(BLM):c.2702G>A (p.Cys901Tyr)
|
rs758311406
|
|
NM_000057.4(BLM):c.2T>C (p.Met1Thr)
|
rs1057516593
|
|
NM_000057.4(BLM):c.3163T>G (p.Cys1055Gly)
|
|
|
NM_000057.4(BLM):c.3164G>A (p.Cys1055Tyr)
|
rs367543029
|
|
NM_000057.4(BLM):c.799+1G>T
|
rs1895641581
|
|
NM_000057.4(BLM):c.83C>G (p.Ser28Ter)
|
rs2151145090
|
|
NM_000057.4(BLM):c.98+1G>A
|
rs750293380
|
|
NM_000057.4(BLM):c.98+1G>T
|
rs750293380
|
|
NM_000057.4(BLM):c.99-1G>A
|
|
|
NM_000057.4(BLM):c.99-8_112del
|
rs2151146678
|
|
NM_000059.3:c.2829_2830insALU
|
|
|
NM_000059.3:c.3390_3391insALU
|
|
|
NM_000059.3:c.3834_3835insALU
|
|
|
NM_000059.3:c.4993_4994insALU
|
|
|
NM_000059.3:c.5990_5991insL1
|
|
|
NM_000059.3:c.7649_7650insALU
|
|
|
NM_000059.3:c.8814_8815insALU
|
|
|
NM_000059.3:c.8933_8934insALU
|
|
|
NM_000059.3:c.9327_9328insALU
|
|
|
NM_000059.3:c.9451_9452insALU
|
|
|
NM_000059.4(BRCA2):c.-39-1_-39del
|
rs758732038
|
|
NM_000059.4(BRCA2):c.-39-2A>G
|
rs1555280053
|
|
NM_000059.4(BRCA2):c.-40+1G>A
|
rs2072249096
|
|
NM_000059.4(BRCA2):c.-40+2T>C
|
rs1593879845
|
|
NM_000059.4(BRCA2):c.1909+1G>A
|
rs587781629
|
|
NM_000059.4(BRCA2):c.1909+2T>A
|
rs876658577
|
|
NM_000059.4(BRCA2):c.1910-1_1914del
|
rs1593895760
|
|
NM_000059.4(BRCA2):c.316+1G>T
|
rs397507303
|
|
NM_000059.4(BRCA2):c.316+1del
|
|
|
NM_000059.4(BRCA2):c.426-2A>G
|
rs398122779
|
|
NM_000059.4(BRCA2):c.475+2T>C
|
rs1555280966
|
|
NM_000059.4(BRCA2):c.475+4del
|
rs276174848
|
|
NM_000059.4(BRCA2):c.476-1G>A
|
rs397507340
|
|
NM_000059.4(BRCA2):c.516+1G>T
|
rs397507762
|
|
NM_000059.4(BRCA2):c.516+4A>G
|
rs2137450725
|
|
NM_000059.4(BRCA2):c.516G>A (p.Lys172=)
|
rs80359790
|
|
NM_000059.4(BRCA2):c.516G>T (p.Lys172Asn)
|
rs80359790
|
|
NM_000059.4(BRCA2):c.517-1G>C
|
|
|
NM_000059.4(BRCA2):c.517-2A>G
|
rs81002858
|
|
NM_000059.4(BRCA2):c.517G>C (p.Gly173Arg)
|
rs397507768
|
|
NM_000059.4(BRCA2):c.517G>T (p.Gly173Cys)
|
rs397507768
|
|
NM_000059.4(BRCA2):c.566A>G (p.Asp189Gly)
|
rs397507359
|
|
NM_000059.4(BRCA2):c.631+1G>C
|
rs81002897
|
|
NM_000059.4(BRCA2):c.631+3A>G
|
rs397507840
|
|
NM_000059.4(BRCA2):c.631G>C (p.Val211Leu)
|
rs80358871
|
|
NM_000059.4(BRCA2):c.632-1G>A
|
rs81002820
|
|
NM_000059.4(BRCA2):c.67+2T>G
|
rs81002885
|
|
NM_000059.4(BRCA2):c.67+3A>C
|
|
|
NM_000059.4(BRCA2):c.67+3A>G
|
rs1593880835
|
|
NM_000059.4(BRCA2):c.681+2dup
|
rs587781486
|
|
NM_000059.4(BRCA2):c.681+4A>G
|
rs397507884
|
|
NM_000059.4(BRCA2):c.682-1G>C
|
rs81002831
|
|
NM_000059.4(BRCA2):c.682-3C>G
|
|
|
NM_000059.4(BRCA2):c.6841+2T>G
|
rs1593909960
|
|
NM_000059.4(BRCA2):c.6938-1G>A
|
rs886040936
|
|
NM_000059.4(BRCA2):c.6938-2A>G
|
rs81002863
|
|
NM_000059.4(BRCA2):c.7007+5G>A
|
rs81002816
|
|
NM_000059.4(BRCA2):c.7007G>T (p.Arg2336Leu)
|
rs28897743
|
|
NM_000059.4(BRCA2):c.7008-1G>A
|
rs786204280
|
|
NM_000059.4(BRCA2):c.7435+2T>C
|
rs1434072252
|
|
NM_000059.4(BRCA2):c.7436-1G>A
|
|
|
NM_000059.4(BRCA2):c.7436-2_7437del
|
rs876659229
|
|
NM_000059.4(BRCA2):c.7510_7617+184del
|
|
|
NM_000059.4(BRCA2):c.7618-10T>G
|
rs864622573
|
|
NM_000059.4(BRCA2):c.7618-187G>T
|
|
|
NM_000059.4(BRCA2):c.7685T>G (p.Phe2562Cys)
|
rs587782715
|
|
NM_000059.4(BRCA2):c.7786G>A (p.Gly2596Arg)
|
rs398122591
|
|
NM_000059.4(BRCA2):c.7792GAA[1] (p.Glu2599del)
|
rs80359682
|
|
NM_000059.4(BRCA2):c.7795G>A (p.Glu2599Lys)
|
rs41293509
|
|
NM_000059.4(BRCA2):c.7796A>G (p.Glu2599Gly)
|
rs780715340
|
|
NM_000059.4(BRCA2):c.7802A>G (p.Tyr2601Cys)
|
rs786202344
|
|
NM_000059.4(BRCA2):c.7804_7805+9del
|
|
|
NM_000059.4(BRCA2):c.7806-1G>C
|
rs81002860
|
|
NM_000059.4(BRCA2):c.7806-2A>C
|
rs81002836
|
|
NM_000059.4(BRCA2):c.7819A>C (p.Thr2607Pro)
|
rs80359008
|
|
NM_000059.4(BRCA2):c.7826G>A (p.Gly2609Asp)
|
rs80359009
|
|
NM_000059.4(BRCA2):c.7826G>T (p.Gly2609Val)
|
rs80359009
|
|
NM_000059.4(BRCA2):c.7855T>C (p.Trp2619Arg)
|
rs1593923998
|
|
NM_000059.4(BRCA2):c.7867C>T (p.His2623Tyr)
|
rs1566244783
|
|
NM_000059.4(BRCA2):c.7874G>T (p.Arg2625Ile)
|
rs864622552
|
|
NM_000059.4(BRCA2):c.7879A>T (p.Ile2627Phe)
|
rs80359014
|
|
NM_000059.4(BRCA2):c.7880T>A (p.Ile2627Asn)
|
rs876658736
|
|
NM_000059.4(BRCA2):c.793+1G>C
|
rs81002846
|
|
NM_000059.4(BRCA2):c.793+1G>T
|
rs81002846
|
|
NM_000059.4(BRCA2):c.7958T>C (p.Leu2653Pro)
|
rs80359022
|
|
NM_000059.4(BRCA2):c.7967T>A (p.Leu2656Gln)
|
rs886037817
|
|
NM_000059.4(BRCA2):c.7976+5G>T
|
rs786201180
|
|
NM_000059.4(BRCA2):c.7977-1G>A
|
rs81002874
|
|
NM_000059.4(BRCA2):c.7977-1G>T
|
rs81002874
|
|
NM_000059.4(BRCA2):c.7977-4_7977-3del
|
rs876659992
|
|
NM_000059.4(BRCA2):c.7978T>G (p.Tyr2660Asp)
|
rs80359029
|
|
NM_000059.4(BRCA2):c.8023A>G (p.Ile2675Val)
|
rs397507954
|
|
NM_000059.4(BRCA2):c.8059G>T (p.Val2687Phe)
|
rs80359044
|
|
NM_000059.4(BRCA2):c.8059_8064del (p.Val2687_Leu2688del)
|
rs1593924996
|
|
NM_000059.4(BRCA2):c.8162T>A (p.Leu2721His)
|
rs80359061
|
|
NM_000059.4(BRCA2):c.8165C>T (p.Thr2722Ile)
|
rs80359062
|
|
NM_000059.4(BRCA2):c.8167G>A (p.Asp2723Asn)
|
rs41293511
|
|
NM_000059.4(BRCA2):c.8169T>A (p.Asp2723Glu)
|
rs1060502432
|
|
NM_000059.4(BRCA2):c.8171G>T (p.Gly2724Val)
|
rs80359063
|
|
NM_000059.4(BRCA2):c.8229_8243del (p.Arg2744_Gly2748del)
|
rs80359698
|
|
NM_000059.4(BRCA2):c.8242G>A (p.Gly2748Ser)
|
rs56371528
|
|
NM_000059.4(BRCA2):c.8243G>T (p.Gly2748Val)
|
rs80359071
|
|
NM_000059.4(BRCA2):c.8252T>G (p.Ile2751Ser)
|
rs1555287065
|
|
NM_000059.4(BRCA2):c.8331+1G>A
|
rs81002837
|
|
NM_000059.4(BRCA2):c.8331+1G>T
|
rs81002837
|
|
NM_000059.4(BRCA2):c.8331+2T>C
|
rs398122602
|
|
NM_000059.4(BRCA2):c.8331+2T>G
|
rs398122602
|
|
NM_000059.4(BRCA2):c.8332-1G>C
|
rs397507979
|
|
NM_000059.4(BRCA2):c.8332-2A>G
|
rs587782774
|
|
NM_000059.4(BRCA2):c.8332-3384A>T
|
|
|
NM_000059.4(BRCA2):c.8332-3C>G
|
rs587782093
|
|
NM_000059.4(BRCA2):c.8342A>T (p.Asn2781Ile)
|
rs1434821822
|
|
NM_000059.4(BRCA2):c.8351G>T (p.Arg2784Leu)
|
rs80359076
|
|
NM_000059.4(BRCA2):c.8362T>C (p.Trp2788Arg)
|
rs80359079
|
|
NM_000059.4(BRCA2):c.8363G>C (p.Trp2788Ser)
|
rs80359080
|
|
NM_000059.4(BRCA2):c.8375T>C (p.Leu2792Pro)
|
rs28897751
|
|
NM_000059.4(BRCA2):c.8375T>G (p.Leu2792Arg)
|
rs28897751
|
|
NM_000059.4(BRCA2):c.8378G>A (p.Gly2793Glu)
|
rs80359083
|
|
NM_000059.4(BRCA2):c.8384_8395del (p.Phe2795_Arg2799delinsTer)
|
rs587781689
|
|
NM_000059.4(BRCA2):c.8486A>G (p.Gln2829Arg)
|
rs80359100
|
|
NM_000059.4(BRCA2):c.8486_8487+7delinsCCTATG
|
|
|
NM_000059.4(BRCA2):c.8488-1G>T
|
rs397507404
|
|
NM_000059.4(BRCA2):c.8488-1_8496delinsCT
|
rs1555287731
|
|
NM_000059.4(BRCA2):c.8632G>A (p.Glu2878Lys)
|
rs398122710
|
|
NM_000059.4(BRCA2):c.8633-1G>A
|
rs398122711
|
|
NM_000059.4(BRCA2):c.8633-24_8634del
|
rs886040945
|
|
NM_000059.4(BRCA2):c.8633-27_8633-9del
|
|
|
NM_000059.4(BRCA2):c.8633-2A>G
|
rs81002886
|
|
NM_000059.4(BRCA2):c.8633-33_8726delinsCAGACCCAGCTT
|
|
|
NM_000059.4(BRCA2):c.8754+1G>T
|
rs397508006
|
|
NM_000059.4(BRCA2):c.8754+1del
|
rs1593935041
|
|
NM_000059.4(BRCA2):c.8754+3G>C
|
rs397508007
|
|
NM_000059.4(BRCA2):c.8754+4A>T
|
rs81002893
|
|
NM_000059.4(BRCA2):c.8754+5G>A
|
rs81002813
|
|
NM_000059.4(BRCA2):c.8754+5G>C
|
rs81002813
|
|
NM_000059.4(BRCA2):c.8755-1G>C
|
rs81002812
|
|
NM_000059.4(BRCA2):c.8755-2A>G
|
rs1566252482
|
|
NM_000059.4(BRCA2):c.8755-3_8755-2delinsGG
|
|
|
NM_000059.4(BRCA2):c.8755-6_8755-2del
|
|
|
NM_000059.4(BRCA2):c.8755-9T>A
|
rs397507413
|
|
NM_000059.4(BRCA2):c.8953+1G>A
|
rs81002882
|
|
NM_000059.4(BRCA2):c.8953+1del
|
rs730881617
|
|
NM_000059.4(BRCA2):c.8954-2_8959del
|
rs1566252995
|
|
NM_000059.4(BRCA2):c.8954-3C>G
|
rs81002844
|
|
NM_000059.4(BRCA2):c.8954-5A>G
|
rs886040949
|
|
NM_000059.4(BRCA2):c.8975_9100del (p.Pro2992_Thr3033del)
|
rs80359736
|
|
NM_000059.4(BRCA2):c.9004G>A (p.Glu3002Lys)
|
rs80359152
|
|
NM_000059.4(BRCA2):c.9005A>G (p.Glu3002Gly)
|
rs1555288459
|
|
NM_000059.4(BRCA2):c.9016T>G (p.Tyr3006Asp)
|
rs397507416
|
|
NM_000059.4(BRCA2):c.9052A>G (p.Ser3018Gly)
|
rs431825373
|
|
NM_000059.4(BRCA2):c.9116_9117+4del
|
|
|
NM_000059.4(BRCA2):c.9117+1del
|
rs869320801
|
|
NM_000059.4(BRCA2):c.9117+3A>G
|
rs1555288517
|
|
NM_000059.4(BRCA2):c.9118-2A>T
|
rs81002862
|
|
NM_000059.4(BRCA2):c.9155G>T (p.Arg3052Leu)
|
rs80359171
|
|
NM_000059.4(BRCA2):c.9217G>T (p.Asp3073Tyr)
|
rs876658262
|
|
NM_000059.4(BRCA2):c.9218A>G (p.Asp3073Gly)
|
rs80359186
|
|
NM_000059.4(BRCA2):c.9254_9256+11del
|
rs1555288584
|
|
NM_000059.4(BRCA2):c.9256+1G>C
|
rs81002883
|
|
NM_000059.4(BRCA2):c.9256+2T>A
|
|
|
NM_000059.4(BRCA2):c.9257-1G>A
|
rs81002889
|
|
NM_000059.4(BRCA2):c.9257-1G>T
|
|
|
NM_000059.4(BRCA2):c.9257-2A>G
|
rs886040954
|
|
NM_000059.4(BRCA2):c.9364G>C (p.Ala3122Pro)
|
rs587782313
|
|
NM_000059.4(BRCA2):c.9373C>T (p.Leu3125Phe)
|
rs1555289566
|
|
NM_000059.4(BRCA2):c.9501+1G>A
|
rs397508058
|
|
NM_000059.4(BRCA2):c.9501+1G>T
|
rs397508058
|
|
NM_000059.4(BRCA2):c.9502-1G>A
|
|
|
NM_000059.4(BRCA2):c.9502-2A>C
|
rs81002868
|
|
NM_000059.4(BRCA2):c.9502-8_9502-3delinsAA
|
|
|
NM_000059.4(BRCA2):c.9502-8_9504dup
|
|
|
NM_000059.4(BRCA2):c.9649-12T>G
|
|
|
NM_000059.4(BRCA2):c.9649-1G>C
|
rs1555289898
|
|
NM_000059.4(BRCA2):c.9895C>T (p.Gln3299Ter)
|
rs1555289997
|
|
NM_000062.3(SERPING1):c.1187T>G (p.Leu396Arg)
|
|
|
NM_000062.3(SERPING1):c.1223A>G (p.Asp408Gly)
|
|
|
NM_000062.3(SERPING1):c.1493C>T (p.Pro498Leu)
|
|
|
NM_000062.3(SERPING1):c.890-14C>G
|
rs2135318127
|
|
NM_000071.3(CBS):c.1007G>C (p.Arg336Pro)
|
rs760417941
|
|
NM_000071.3(CBS):c.536_553del (p.Asp179_Leu184del)
|
rs794727835
|
|
NM_000071.3(CBS):c.862G>A (p.Ala288Thr)
|
rs141502207
|
|
NM_000077.5(CDKN2A):c.-21C>T
|
rs762129503
|
|
NM_000077.5(CDKN2A):c.113C>G (p.Pro38Arg)
|
|
|
NM_000077.5(CDKN2A):c.143C>G (p.Pro48Arg)
|
rs763804037
|
|
NM_000077.5(CDKN2A):c.143C>T (p.Pro48Leu)
|
|
|
NM_000077.5(CDKN2A):c.146T>G (p.Ile49Ser)
|
rs199907548
|
|
NM_000077.5(CDKN2A):c.149A>C (p.Gln50Pro)
|
rs587778189
|
|
NM_000077.5(CDKN2A):c.150+2T>G
|
|
|
NM_000077.5(CDKN2A):c.151-1G>T
|
rs730881677
|
|
NM_000077.5(CDKN2A):c.151-2A>G
|
rs1554654224
|
|
NM_000077.5(CDKN2A):c.154ATG[2] (p.Met54del)
|
rs2131096613
|
|
NM_000077.5(CDKN2A):c.159G>A (p.Met53Ile)
|
rs104894095
|
|
NM_000077.5(CDKN2A):c.176T>G (p.Val59Gly)
|
rs104894099
|
|
NM_000077.5(CDKN2A):c.179C>A (p.Ala60Glu)
|
rs36204594
|
|
NM_000077.5(CDKN2A):c.183GCT[5] (p.Leu65dup)
|
rs2131096063
|
|
NM_000077.5(CDKN2A):c.199G>C (p.Gly67Arg)
|
rs758389471
|
|
NM_000077.5(CDKN2A):c.202G>C (p.Ala68Pro)
|
rs1819719137
|
|
NM_000077.5(CDKN2A):c.202_203delinsTT (p.Ala68Leu)
|
rs876658534
|
|
NM_000077.5(CDKN2A):c.203C>T (p.Ala68Val)
|
rs1060501260
|
|
NM_000077.5(CDKN2A):c.212A>G (p.Asn71Ser)
|
rs559848002
|
|
NM_000077.5(CDKN2A):c.213C>A (p.Asn71Lys)
|
|
|
NM_000077.5(CDKN2A):c.250G>A (p.Asp84Asn)
|
rs11552822
|
|
NM_000077.5(CDKN2A):c.251A>C (p.Asp84Ala)
|
rs587782792
|
|
NM_000077.5(CDKN2A):c.260G>C (p.Arg87Pro)
|
rs878853647
|
|
NM_000077.5(CDKN2A):c.266G>A (p.Gly89Asp)
|
rs137854599
|
|
NM_000077.5(CDKN2A):c.296G>C (p.Arg99Pro)
|
rs754806883
|
|
NM_000077.5(CDKN2A):c.322G>A (p.Asp108Asn)
|
rs121913381
|
|
NM_000077.5(CDKN2A):c.322G>T (p.Asp108Tyr)
|
rs121913381
|
|
NM_000077.5(CDKN2A):c.334C>G (p.Arg112Gly)
|
rs876660436
|
|
NM_000077.5(CDKN2A):c.340_355del (p.Pro114fs)
|
rs1554653956
|
|
NM_000077.5(CDKN2A):c.341C>G (p.Pro114Arg)
|
|
|
NM_000077.5(CDKN2A):c.353C>T (p.Ala118Val)
|
rs1060501270
|
|
NM_000077.5(CDKN2A):c.379G>C (p.Ala127Pro)
|
rs6413464
|
|
NM_000077.5(CDKN2A):c.457+1_457+10del
|
rs1587330284
|
|
NM_000077.5(CDKN2A):c.47T>C (p.Leu16Pro)
|
rs864622263
|
|
NM_000077.5(CDKN2A):c.52_57dup (p.Thr18_Ala19dup)
|
rs1563892769
|
|
NM_000077.5(CDKN2A):c.58G>C (p.Ala20Pro)
|
rs760065045
|
|
NM_000077.5(CDKN2A):c.67G>A (p.Gly23Ser)
|
rs1131691186
|
|
NM_000077.5(CDKN2A):c.67G>C (p.Gly23Arg)
|
rs1131691186
|
|
NM_000077.5(CDKN2A):c.67G>T (p.Gly23Cys)
|
rs1131691186
|
|
NM_000077.5(CDKN2A):c.68G>A (p.Gly23Asp)
|
rs1064794292
|
|
NM_000077.5(CDKN2A):c.95T>C (p.Leu32Pro)
|
rs878853650
|
|
NM_000079.4(CHRNA1):c.805G>T (p.Val269Phe)
|
rs137852803
|
|
NM_000088.4(COL1A1):c.1299+5G>A
|
rs193922139
|
|
NM_000088.4(COL1A1):c.3371G>A (p.Gly1124Asp)
|
|
|
NM_000088.4(COL1A1):c.3559G>T (p.Gly1187Cys)
|
|
|
NM_000088.4(COL1A1):c.388G>T (p.Gly130Cys)
|
rs1555575085
|
|
NM_000088.4(COL1A1):c.563G>A (p.Gly188Asp)
|
rs1114167408
|
|
NM_000088.4(COL1A1):c.661G>A (p.Gly221Ser)
|
rs72667037
|
|
NM_000089.4(COL1A2):c.1576G>A (p.Gly526Arg)
|
rs72658129
|
|
NM_000089.4(COL1A2):c.326G>A (p.Gly109Asp)
|
rs1114167416
|
|
NM_000089.4(COL1A2):c.3305G>C (p.Gly1102Ala)
|
rs68063264
|
|
NM_000089.4(COL1A2):c.596G>A (p.Gly199Asp)
|
rs1554395833
|
|
NM_000089.4(COL1A2):c.910G>A (p.Gly304Ser)
|
rs1054264002
|
|
NM_000090.4(COL3A1):c.1024G>A (p.Gly342Arg)
|
rs794728040
|
|
NM_000090.4(COL3A1):c.1079G>A (p.Gly360Asp)
|
|
|
NM_000090.4(COL3A1):c.1186G>A (p.Gly396Ser)
|
|
|
NM_000090.4(COL3A1):c.1231G>C (p.Gly411Arg)
|
rs587779534
|
|
NM_000090.4(COL3A1):c.1241G>A (p.Gly414Asp)
|
rs794728044
|
|
NM_000090.4(COL3A1):c.1258G>A (p.Gly420Ser)
|
rs587779692
|
|
NM_000090.4(COL3A1):c.1294G>A (p.Gly432Ser)
|
rs794728045
|
|
NM_000090.4(COL3A1):c.1295G>A (p.Gly432Asp)
|
rs1688258933
|
|
NM_000090.4(COL3A1):c.1303G>A (p.Gly435Ser)
|
rs886038952
|
|
NM_000090.4(COL3A1):c.1303G>T (p.Gly435Cys)
|
rs886038952
|
|
NM_000090.4(COL3A1):c.1421G>T (p.Gly474Val)
|
rs1553507991
|
|
NM_000090.4(COL3A1):c.1466G>A (p.Gly489Glu)
|
rs587779476
|
|
NM_000090.4(COL3A1):c.1608+1G>A
|
|
|
NM_000090.4(COL3A1):c.1709G>A (p.Gly570Asp)
|
rs2153502685
|
|
NM_000090.4(COL3A1):c.1727G>A (p.Gly576Asp)
|
rs886038853
|
|
NM_000090.4(COL3A1):c.1761+5G>A
|
rs397509372
|
|
NM_000090.4(COL3A1):c.1853G>A (p.Gly618Glu)
|
|
|
NM_000090.4(COL3A1):c.1862_1869+5del
|
|
|
NM_000090.4(COL3A1):c.1871G>A (p.Gly624Glu)
|
rs1553508463
|
|
NM_000090.4(COL3A1):c.1987G>A (p.Gly663Ser)
|
rs587779433
|
|
NM_000090.4(COL3A1):c.2069G>A (p.Gly690Glu)
|
rs587779458
|
|
NM_000090.4(COL3A1):c.2123G>A (p.Gly708Asp)
|
|
|
NM_000090.4(COL3A1):c.2212G>C (p.Gly738Arg)
|
|
|
NM_000090.4(COL3A1):c.2229+1G>A
|
rs1576468385
|
|
NM_000090.4(COL3A1):c.2230G>T (p.Gly744Cys)
|
|
|
NM_000090.4(COL3A1):c.2284G>T (p.Gly762Cys)
|
|
|
NM_000090.4(COL3A1):c.2337G>A (p.Lys779=)
|
rs587779461
|
|
NM_000090.4(COL3A1):c.2717G>A (p.Gly906Asp)
|
|
|
NM_000090.4(COL3A1):c.2770G>T (p.Gly924Cys)
|
rs587779471
|
|
NM_000090.4(COL3A1):c.2771G>A (p.Gly924Asp)
|
rs587779450
|
|
NM_000090.4(COL3A1):c.2924G>C (p.Gly975Ala)
|
|
|
NM_000090.4(COL3A1):c.3103G>A (p.Gly1035Ser)
|
rs587779704
|
|
NM_000090.4(COL3A1):c.3167G>A (p.Gly1056Asp)
|
rs587779540
|
|
NM_000090.4(COL3A1):c.3193G>A (p.Gly1065Arg)
|
rs587779563
|
|
NM_000090.4(COL3A1):c.3229G>A (p.Gly1077Ser)
|
rs886038892
|
|
NM_000090.4(COL3A1):c.3374G>A (p.Gly1125Asp)
|
|
|
NM_000090.4(COL3A1):c.3391G>A (p.Gly1131Ser)
|
rs587779536
|
|
NM_000090.4(COL3A1):c.3499G>C (p.Gly1167Arg)
|
rs587779609
|
|
NM_000090.4(COL3A1):c.3499G>T (p.Gly1167Cys)
|
rs587779609
|
|
NM_000090.4(COL3A1):c.3508G>A (p.Gly1170Ser)
|
rs587779482
|
|
NM_000090.4(COL3A1):c.448-1G>T
|
rs1688078187
|
|
NM_000090.4(COL3A1):c.528+5G>A
|
rs794728038
|
|
NM_000090.4(COL3A1):c.528+5G>T
|
|
|
NM_000090.4(COL3A1):c.547G>A (p.Gly183Ser)
|
rs121912926
|
|
NM_000090.4(COL3A1):c.582+2_582+16del
|
|
|
NM_000090.4(COL3A1):c.647G>A (p.Gly216Glu)
|
rs587779596
|
|
NM_000090.4(COL3A1):c.674G>C (p.Gly225Ala)
|
rs587779533
|
|
NM_000090.4(COL3A1):c.791G>A (p.Gly264Glu)
|
rs587779604
|
|
NM_000090.4(COL3A1):c.809G>A (p.Gly270Glu)
|
rs587779478
|
|
NM_000090.4(COL3A1):c.898-2A>G
|
rs1553507574
|
|
NM_000090.4(COL3A1):c.970G>A (p.Gly324Ser)
|
rs587779650
|
|
NM_000091.5(COL4A3):c.2656+1G>T
|
|
|
NM_000092.5(COL4A4):c.81_86del (p.27IL[1])
|
rs771943519
|
|
NM_000093.5(COL5A1):c.4430G>A (p.Gly1477Asp)
|
|
|
NM_000093.5(COL5A1):c.5165dup (p.Val1723fs)
|
rs1554726251
|
|
NM_000093.5(COL5A1):c.54del (p.Leu19fs)
|
|
|
NM_000093.5(COL5A1):c.655-1G>C
|
rs1554787526
|
|
NM_000093.5(COL5A1):c.655-2A>T
|
rs786205101
|
|
NM_000100.4(CSTB):c.246_247del (p.Leu82fs)
|
|
|
NM_000113.3(TOR1A):c.961del (p.Thr321fs)
|
rs774552108
|
|
NM_000117.3(EMD):c.82G>A (p.Gly28Arg)
|
rs1064797380
|
|
NM_000124.4(ERCC6):c.1397+1G>C
|
rs1554793174
|
|
NM_000124.4(ERCC6):c.2058G>C (p.Trp686Cys)
|
rs751292948
|
|
NM_000132.4(F8):c.7031G>A (p.Gly2344Asp)
|
rs1557271042
|
|
NM_000133.4(F9):c.1115T>C (p.Leu372Pro)
|
rs1556008584
|
|
NM_000136.3(FANCC):c.1534-1G>T
|
rs1364238660
|
|
NM_000136.3(FANCC):c.251-2A>C
|
rs1057517219
|
|
NM_000136.3(FANCC):c.346-1G>A
|
rs1484503633
|
|
NM_000136.3(FANCC):c.521+1G>T
|
|
|
NM_000136.3(FANCC):c.686+1G>C
|
rs1057517125
|
|
NM_000136.3(FANCC):c.687-1G>A
|
rs1588134748
|
|
NM_000136.3(FANCC):c.996+1G>A
|
rs370510954
|
|
NM_000136.3(FANCC):c.996+1_996+2insGA
|
rs1825770738
|
|
NM_000136.3(FANCC):c.997-1G>A
|
rs1588070986
|
|
NM_000138.4:c.1783_1784insALU
|
|
|
NM_000138.5(FBN1):c.1074C>G (p.Cys358Trp)
|
|
|
NM_000138.5(FBN1):c.1129T>C (p.Cys377Arg)
|
rs886039066
|
|
NM_000138.5(FBN1):c.1147G>A (p.Glu383Lys)
|
rs794728325
|
|
NM_000138.5(FBN1):c.1147_1147+9del
|
|
|
NM_000138.5(FBN1):c.1148-1G>C
|
|
|
NM_000138.5(FBN1):c.1421G>A (p.Cys474Tyr)
|
rs794728166
|
|
NM_000138.5(FBN1):c.1421G>T (p.Cys474Phe)
|
rs794728166
|
|
NM_000138.5(FBN1):c.1428C>G (p.Cys476Trp)
|
|
|
NM_000138.5(FBN1):c.1556A>G (p.Tyr519Cys)
|
rs1555400278
|
|
NM_000138.5(FBN1):c.164+1G>C
|
|
|
NM_000138.5(FBN1):c.164G>C (p.Gly55Ala)
|
|
|
NM_000138.5(FBN1):c.1663T>C (p.Cys555Arg)
|
rs2043746138
|
|
NM_000138.5(FBN1):c.1754G>A (p.Gly585Glu)
|
rs1060501041
|
|
NM_000138.5(FBN1):c.1787G>A (p.Cys596Tyr)
|
rs2043732180
|
|
NM_000138.5(FBN1):c.1837+5G>A
|
rs1445085747
|
|
NM_000138.5(FBN1):c.1837G>A (p.Asp613Asn)
|
rs1555399943
|
|
NM_000138.5(FBN1):c.1904A>G (p.Tyr635Cys)
|
rs1555399816
|
|
NM_000138.5(FBN1):c.1909T>A (p.Cys637Ser)
|
|
|
NM_000138.5(FBN1):c.1948C>T (p.Arg650Cys)
|
rs193922185
|
|
NM_000138.5(FBN1):c.202T>A (p.Cys68Ser)
|
rs113604459
|
|
NM_000138.5(FBN1):c.2050T>C (p.Cys684Arg)
|
rs1555399764
|
|
NM_000138.5(FBN1):c.2168A>C (p.Asp723Ala)
|
rs137854463
|
|
NM_000138.5(FBN1):c.2200T>A (p.Cys734Ser)
|
|
|
NM_000138.5(FBN1):c.2201G>A (p.Cys734Tyr)
|
rs794728187
|
|
NM_000138.5(FBN1):c.2287T>C (p.Cys763Arg)
|
rs1555399361
|
|
NM_000138.5(FBN1):c.2294-1G>A
|
|
|
NM_000138.5(FBN1):c.2341T>C (p.Cys781Arg)
|
rs397515766
|
|
NM_000138.5(FBN1):c.2342G>A (p.Cys781Tyr)
|
rs1555399271
|
|
NM_000138.5(FBN1):c.2369G>A (p.Cys790Tyr)
|
rs193922188
|
|
NM_000138.5(FBN1):c.2375G>T (p.Cys792Phe)
|
rs886038984
|
|
NM_000138.5(FBN1):c.239G>A (p.Cys80Tyr)
|
rs397515767
|
|
NM_000138.5(FBN1):c.2419+1G>A
|
rs1555399257
|
|
NM_000138.5(FBN1):c.2432G>A (p.Cys811Tyr)
|
rs1555399210
|
|
NM_000138.5(FBN1):c.2463C>G (p.Cys821Trp)
|
rs1555399205
|
|
NM_000138.5(FBN1):c.247+1G>T
|
rs25404
|
|
NM_000138.5(FBN1):c.2489G>C (p.Cys830Ser)
|
rs397515774
|
|
NM_000138.5(FBN1):c.2489G>T (p.Cys830Phe)
|
|
|
NM_000138.5(FBN1):c.2624G>A (p.Cys875Tyr)
|
rs886039038
|
|
NM_000138.5(FBN1):c.2639G>A (p.Gly880Asp)
|
rs886038953
|
|
NM_000138.5(FBN1):c.2644G>A (p.Ala882Thr)
|
rs2043594915
|
|
NM_000138.5(FBN1):c.2677G>A (p.Asp893Asn)
|
rs193922193
|
|
NM_000138.5(FBN1):c.2728+2T>C
|
rs886038898
|
|
NM_000138.5(FBN1):c.2729-2A>G
|
rs113813525
|
|
NM_000138.5(FBN1):c.2740T>G (p.Cys914Gly)
|
rs1555398994
|
|
NM_000138.5(FBN1):c.2855-1G>C
|
rs112202622
|
|
NM_000138.5(FBN1):c.2860C>T (p.Arg954Cys)
|
rs1555398835
|
|
NM_000138.5(FBN1):c.2953G>A (p.Gly985Arg)
|
rs794728199
|
|
NM_000138.5(FBN1):c.2954G>A (p.Gly985Glu)
|
rs137854477
|
|
NM_000138.5(FBN1):c.3124G>A (p.Gly1042Ser)
|
rs1555398681
|
|
NM_000138.5(FBN1):c.3125G>A (p.Gly1042Asp)
|
rs1555398680
|
|
NM_000138.5(FBN1):c.3344A>G (p.Asp1115Gly)
|
rs794728203
|
|
NM_000138.5(FBN1):c.3457T>C (p.Cys1153Arg)
|
rs886038877
|
|
NM_000138.5(FBN1):c.3545G>A (p.Cys1182Tyr)
|
rs1597562812
|
|
NM_000138.5(FBN1):c.3584G>A (p.Cys1195Tyr)
|
rs886038802
|
|
NM_000138.5(FBN1):c.3632_3634del (p.Phe1211del)
|
rs1555398404
|
|
NM_000138.5(FBN1):c.3712G>A (p.Asp1238Asn)
|
rs794728208
|
|
NM_000138.5(FBN1):c.3746G>C (p.Cys1249Ser)
|
rs137854458
|
|
NM_000138.5(FBN1):c.3833G>C (p.Cys1278Ser)
|
|
|
NM_000138.5(FBN1):c.3834T>G (p.Cys1278Trp)
|
rs886039492
|
|
NM_000138.5(FBN1):c.3958T>A (p.Cys1320Ser)
|
|
|
NM_000138.5(FBN1):c.3963A>G (p.Thr1321=)
|
rs140648
|
|
NM_000138.5(FBN1):c.4043G>A (p.Cys1348Tyr)
|
rs1555397720
|
|
NM_000138.5(FBN1):c.408C>G (p.Cys136Trp)
|
rs1555405039
|
|
NM_000138.5(FBN1):c.4100G>A (p.Cys1367Tyr)
|
rs2141279869
|
|
NM_000138.5(FBN1):c.4204T>C (p.Cys1402Arg)
|
|
|
NM_000138.5(FBN1):c.4206T>G (p.Cys1402Trp)
|
|
|
NM_000138.5(FBN1):c.4243T>C (p.Cys1415Arg)
|
rs1555397557
|
|
NM_000138.5(FBN1):c.4331G>A (p.Cys1444Tyr)
|
rs886038940
|
|
NM_000138.5(FBN1):c.433T>C (p.Cys145Arg)
|
rs1555405031
|
|
NM_000138.5(FBN1):c.434G>A (p.Cys145Tyr)
|
rs878853682
|
|
NM_000138.5(FBN1):c.4366T>G (p.Cys1456Gly)
|
|
|
NM_000138.5(FBN1):c.4367G>A (p.Cys1456Tyr)
|
rs397515805
|
|
NM_000138.5(FBN1):c.4459+1del
|
|
|
NM_000138.5(FBN1):c.4467T>A (p.Asn1489Lys)
|
rs193922205
|
|
NM_000138.5(FBN1):c.4468G>A (p.Glu1490Lys)
|
rs1060501076
|
|
NM_000138.5(FBN1):c.448T>C (p.Cys150Arg)
|
rs1555404819
|
|
NM_000138.5(FBN1):c.4526A>G (p.Tyr1509Cys)
|
rs730880102
|
|
NM_000138.5(FBN1):c.4537T>G (p.Cys1513Gly)
|
|
|
NM_000138.5(FBN1):c.4577G>A (p.Cys1526Tyr)
|
rs886039120
|
|
NM_000138.5(FBN1):c.4589G>C (p.Arg1530Pro)
|
rs778710767
|
|
NM_000138.5(FBN1):c.4601G>C (p.Cys1534Ser)
|
rs112559031
|
|
NM_000138.5(FBN1):c.4684T>C (p.Cys1562Arg)
|
rs193922207
|
|
NM_000138.5(FBN1):c.4817-2A>G
|
rs1555397008
|
|
NM_000138.5(FBN1):c.4864T>C (p.Cys1622Arg)
|
|
|
NM_000138.5(FBN1):c.4937G>C (p.Cys1646Ser)
|
|
|
NM_000138.5(FBN1):c.496T>A (p.Cys166Ser)
|
rs363852
|
|
NM_000138.5(FBN1):c.5155T>C (p.Cys1719Arg)
|
rs886038838
|
|
NM_000138.5(FBN1):c.5345G>A (p.Cys1782Tyr)
|
rs1555396429
|
|
NM_000138.5(FBN1):c.5371T>A (p.Cys1791Ser)
|
|
|
NM_000138.5(FBN1):c.5371T>C (p.Cys1791Arg)
|
rs1555396427
|
|
NM_000138.5(FBN1):c.5372G>A (p.Cys1791Tyr)
|
rs886038848
|
|
NM_000138.5(FBN1):c.5431G>A (p.Glu1811Lys)
|
rs761857514
|
|
NM_000138.5(FBN1):c.5452T>C (p.Cys1818Arg)
|
|
|
NM_000138.5(FBN1):c.5542_5545+11del
|
|
|
NM_000138.5(FBN1):c.557G>A (p.Cys186Tyr)
|
|
|
NM_000138.5(FBN1):c.5626T>C (p.Cys1876Arg)
|
rs1555395980
|
|
NM_000138.5(FBN1):c.5680G>A (p.Glu1894Lys)
|
rs1057521101
|
|
NM_000138.5(FBN1):c.5683T>C (p.Cys1895Arg)
|
rs878853686
|
|
NM_000138.5(FBN1):c.5698T>A (p.Cys1900Ser)
|
rs1555395840
|
|
NM_000138.5(FBN1):c.5700T>G (p.Cys1900Trp)
|
|
|
NM_000138.5(FBN1):c.5726T>C (p.Ile1909Thr)
|
rs794728333
|
|
NM_000138.5(FBN1):c.5741G>A (p.Cys1914Tyr)
|
|
|
NM_000138.5(FBN1):c.5788G>A (p.Asp1930Asn)
|
rs1555395820
|
|
NM_000138.5(FBN1):c.5911T>C (p.Cys1971Arg)
|
rs1555395745
|
|
NM_000138.5(FBN1):c.5912G>A (p.Cys1971Tyr)
|
rs111239111
|
|
NM_000138.5(FBN1):c.5912G>T (p.Cys1971Phe)
|
|
|
NM_000138.5(FBN1):c.5918-2A>G
|
rs869025418
|
|
NM_000138.5(FBN1):c.5951G>A (p.Cys1984Tyr)
|
rs1555395658
|
|
NM_000138.5(FBN1):c.5959G>C (p.Gly1987Arg)
|
rs727504642
|
|
NM_000138.5(FBN1):c.5967T>G (p.Cys1989Trp)
|
rs1555395652
|
|
NM_000138.5(FBN1):c.5999G>A (p.Cys2000Tyr)
|
rs1555395645
|
|
NM_000138.5(FBN1):c.6032G>A (p.Cys2011Tyr)
|
rs886038967
|
|
NM_000138.5(FBN1):c.6037+1G>A
|
rs1064796636
|
|
NM_000138.5(FBN1):c.6046G>A (p.Glu2016Lys)
|
rs2141245531
|
|
NM_000138.5(FBN1):c.6049T>G (p.Cys2017Gly)
|
|
|
NM_000138.5(FBN1):c.6119G>T (p.Cys2040Phe)
|
|
|
NM_000138.5(FBN1):c.6209G>A (p.Cys2070Tyr)
|
rs1060501044
|
|
NM_000138.5(FBN1):c.6247T>C (p.Cys2083Arg)
|
|
|
NM_000138.5(FBN1):c.6313+3A>T
|
|
|
NM_000138.5(FBN1):c.6314-1G>A
|
|
|
NM_000138.5(FBN1):c.6388G>A (p.Glu2130Lys)
|
rs794728334
|
|
NM_000138.5(FBN1):c.6425G>A (p.Cys2142Tyr)
|
rs794728335
|
|
NM_000138.5(FBN1):c.6430A>C (p.Asn2144His)
|
rs886038943
|
|
NM_000138.5(FBN1):c.6446A>G (p.Tyr2149Cys)
|
rs113080385
|
|
NM_000138.5(FBN1):c.6466G>T (p.Gly2156Cys)
|
|
|
NM_000138.5(FBN1):c.6583G>A (p.Gly2195Arg)
|
rs886038976
|
|
NM_000138.5(FBN1):c.6628T>C (p.Cys2210Arg)
|
rs794728253
|
|
NM_000138.5(FBN1):c.6629G>A (p.Cys2210Tyr)
|
rs2141235242
|
|
NM_000138.5(FBN1):c.6689G>A (p.Cys2230Tyr)
|
rs1555394904
|
|
NM_000138.5(FBN1):c.6751T>A (p.Cys2251Ser)
|
rs112836174
|
|
NM_000138.5(FBN1):c.6773G>A (p.Cys2258Tyr)
|
rs886039047
|
|
NM_000138.5(FBN1):c.6821G>C (p.Cys2274Ser)
|
|
|
NM_000138.5(FBN1):c.6822C>G (p.Cys2274Trp)
|
|
|
NM_000138.5(FBN1):c.6866G>T (p.Cys2289Phe)
|
rs1566894230
|
|
NM_000138.5(FBN1):c.6904T>A (p.Cys2302Ser)
|
rs886039092
|
|
NM_000138.5(FBN1):c.6991T>A (p.Cys2331Ser)
|
rs886038894
|
|
NM_000138.5(FBN1):c.7363T>C (p.Cys2455Arg)
|
rs886038930
|
|
NM_000138.5(FBN1):c.7402T>C (p.Cys2468Arg)
|
rs1085308004
|
|
NM_000138.5(FBN1):c.7403G>A (p.Cys2468Tyr)
|
rs1555394400
|
|
NM_000138.5(FBN1):c.7408T>C (p.Cys2470Arg)
|
rs1555394399
|
|
NM_000138.5(FBN1):c.7448G>A (p.Cys2483Tyr)
|
rs1555394390
|
|
NM_000138.5(FBN1):c.7525T>G (p.Cys2509Gly)
|
rs1060501055
|
|
NM_000138.5(FBN1):c.7533T>G (p.Cys2511Trp)
|
rs750331217
|
|
NM_000138.5(FBN1):c.7649G>C (p.Cys2550Ser)
|
rs1555394196
|
|
NM_000138.5(FBN1):c.7699+1G>A
|
rs1555394189
|
|
NM_000138.5(FBN1):c.7742G>A (p.Cys2581Tyr)
|
rs1555394149
|
|
NM_000138.5(FBN1):c.7742G>T (p.Cys2581Phe)
|
rs1555394149
|
|
NM_000138.5(FBN1):c.7763A>G (p.Tyr2588Cys)
|
rs1566891436
|
|
NM_000138.5(FBN1):c.7784G>A (p.Gly2595Asp)
|
rs397515857
|
|
NM_000138.5(FBN1):c.7832G>A (p.Cys2611Tyr)
|
rs794728337
|
|
NM_000138.5(FBN1):c.7865G>A (p.Cys2622Tyr)
|
rs1555393880
|
|
NM_000138.5(FBN1):c.7880G>A (p.Gly2627Glu)
|
rs1555393875
|
|
NM_000138.5(FBN1):c.7886A>G (p.Tyr2629Cys)
|
|
|
NM_000138.5(FBN1):c.7897T>C (p.Cys2633Arg)
|
rs1555393871
|
|
NM_000138.5(FBN1):c.8003G>A (p.Gly2668Asp)
|
rs1555393837
|
|
NM_000138.5(FBN1):c.8005G>T (p.Gly2669Cys)
|
rs794728281
|
|
NM_000138.5(FBN1):c.8006G>T (p.Gly2669Val)
|
rs886038869
|
|
NM_000138.5(FBN1):c.8014T>G (p.Cys2672Gly)
|
rs1555393833
|
|
NM_000138.5(FBN1):c.8038C>T (p.Arg2680Cys)
|
rs794728283
|
|
NM_000138.5(FBN1):c.812G>A (p.Cys271Tyr)
|
|
|
NM_000138.5(FBN1):c.813C>G (p.Cys271Trp)
|
rs765692335
|
|
NM_000138.5(FBN1):c.8607del (p.Leu2869fs)
|
|
|
NM_000141.5(FGFR2):c.1991G>A (p.Arg664Gln)
|
rs1554907364
|
|
NM_000141.5(FGFR2):c.758C>T (p.Pro253Leu)
|
rs77543610
|
|
NM_000141.5(FGFR2):c.940-165_978del
|
rs1554928978
|
|
NM_000143.4(FH):c.1000A>C (p.Ser334Arg)
|
rs587782216
|
|
NM_000143.4(FH):c.1007T>G (p.Met336Arg)
|
rs863223972
|
|
NM_000143.4(FH):c.1016C>A (p.Ala339Glu)
|
rs1659852423
|
|
NM_000143.4(FH):c.1084G>A (p.Glu362Lys)
|
rs121913119
|
|
NM_000143.4(FH):c.1084G>C (p.Glu362Gln)
|
rs121913119
|
|
NM_000143.4(FH):c.1094G>A (p.Ser365Asn)
|
rs1131691238
|
|
NM_000143.4(FH):c.1108+2T>A
|
|
|
NM_000143.4(FH):c.1112A>G (p.Lys371Arg)
|
rs863224005
|
|
NM_000143.4(FH):c.1120C>A (p.Pro374Thr)
|
rs876660446
|
|
NM_000143.4(FH):c.1129T>C (p.Cys377Arg)
|
rs398123161
|
|
NM_000143.4(FH):c.1153_1155dup (p.Ala385_Gln386insAla)
|
|
|
NM_000143.4(FH):c.1157A>G (p.Gln386Arg)
|
rs750447792
|
|
NM_000143.4(FH):c.1165G>A (p.Gly389Arg)
|
|
|
NM_000143.4(FH):c.1192G>A (p.Gly398Ser)
|
|
|
NM_000143.4(FH):c.1202G>A (p.Gly401Glu)
|
rs1573879289
|
|
NM_000143.4(FH):c.1205A>G (p.His402Arg)
|
rs886039366
|
|
NM_000143.4(FH):c.1236+2T>C
|
|
|
NM_000143.4(FH):c.1237-1G>T
|
rs1573878149
|
|
NM_000143.4(FH):c.1256C>T (p.Ser419Leu)
|
rs1131691244
|
|
NM_000143.4(FH):c.1268T>G (p.Leu423Arg)
|
rs863224009
|
|
NM_000143.4(FH):c.1283_1294del (p.Val428_Thr431del)
|
|
|
NM_000143.4(FH):c.132+5G>A
|
rs1060499627
|
|
NM_000143.4(FH):c.1390+1G>T
|
rs886039367
|
|
NM_000143.4(FH):c.1390+2T>C
|
rs1558396285
|
|
NM_000143.4(FH):c.1391G>T (p.Gly464Val)
|
rs1131691250
|
|
NM_000143.4(FH):c.1519_1521del (p.Leu507del)
|
|
|
NM_000143.4(FH):c.1520T>C (p.Leu507Pro)
|
rs1425094515
|
|
NM_000143.4(FH):c.152G>A (p.Arg51Gln)
|
rs976734433
|
|
NM_000143.4(FH):c.214A>C (p.Thr72Pro)
|
rs886039362
|
|
NM_000143.4(FH):c.275TTA[1] (p.Ile93del)
|
rs1573886490
|
|
NM_000143.4(FH):c.284C>A (p.Ala95Asp)
|
|
|
NM_000143.4(FH):c.349G>C (p.Ala117Pro)
|
rs886039363
|
|
NM_000143.4(FH):c.378+2T>C
|
rs1131691241
|
|
NM_000143.4(FH):c.378G>C (p.Glu126Asp)
|
rs1573886367
|
|
NM_000143.4(FH):c.379-1G>C
|
rs1553341623
|
|
NM_000143.4(FH):c.404A>G (p.His135Arg)
|
rs786202833
|
|
NM_000143.4(FH):c.431G>T (p.Gly144Val)
|
rs1057521425
|
|
NM_000143.4(FH):c.437G>A (p.Gly146Glu)
|
rs11545654
|
|
NM_000143.4(FH):c.439A>G (p.Thr147Ala)
|
rs863223983
|
|
NM_000143.4(FH):c.450T>A (p.Asn150Lys)
|
rs1131691242
|
|
NM_000143.4(FH):c.470T>G (p.Ile157Ser)
|
rs2147921876
|
|
NM_000143.4(FH):c.478A>G (p.Arg160Gly)
|
rs878853694
|
|
NM_000143.4(FH):c.482C>A (p.Ala161Glu)
|
|
|
NM_000143.4(FH):c.524T>G (p.Val175Gly)
|
|
|
NM_000143.4(FH):c.555+5G>A
|
|
|
NM_000143.4(FH):c.556-2A>T
|
rs750273092
|
|
NM_000143.4(FH):c.557G>A (p.Ser186Asn)
|
rs587782618
|
|
NM_000143.4(FH):c.560C>T (p.Ser187Leu)
|
rs398123166
|
|
NM_000143.4(FH):c.562A>G (p.Asn188Asp)
|
|
|
NM_000143.4(FH):c.566A>T (p.Asp189Val)
|
rs1064793125
|
|
NM_000143.4(FH):c.575C>T (p.Pro192Leu)
|
rs1573883342
|
|
NM_000143.4(FH):c.584T>C (p.Met195Thr)
|
rs863223965
|
|
NM_000143.4(FH):c.591TGC[2] (p.Ala200del)
|
rs786202907
|
|
NM_000143.4(FH):c.653T>G (p.Leu218Arg)
|
rs1553341345
|
|
NM_000143.4(FH):c.738+1G>A
|
rs1659988368
|
|
NM_000143.4(FH):c.738+2T>C
|
rs1060500901
|
|
NM_000143.4(FH):c.738G>C (p.Gln246His)
|
rs2147919372
|
|
NM_000143.4(FH):c.774_794dup (p.Thr260_Met266dup)
|
rs863223984
|
|
NM_000143.4(FH):c.816_836del (p.Ala273_Val279del)
|
rs863223985
|
|
NM_000143.4(FH):c.827G>A (p.Gly276Asp)
|
rs2147917609
|
|
NM_000143.4(FH):c.827G>T (p.Gly276Val)
|
|
|
NM_000143.4(FH):c.839G>A (p.Gly280Asp)
|
rs863223969
|
|
NM_000143.4(FH):c.842C>G (p.Thr281Arg)
|
|
|
NM_000143.4(FH):c.905-1G>C
|
rs797044973
|
|
NM_000143.4(FH):c.934T>C (p.Phe312Leu)
|
rs863224000
|
|
NM_000143.4(FH):c.950C>T (p.Ala317Val)
|
rs2147916281
|
|
NM_000143.4(FH):c.955G>T (p.Asp319Tyr)
|
|
|
NM_000143.4(FH):c.956A>T (p.Asp319Val)
|
|
|
NM_000143.4(FH):c.965T>A (p.Val322Asp)
|
|
|
NM_000143.4(FH):c.965T>G (p.Val322Gly)
|
rs863224003
|
|
NM_000143.4(FH):c.977G>A (p.Gly326Glu)
|
rs1553341037
|
|
NM_000143.4(FH):c.988A>C (p.Thr330Pro)
|
rs776313200
|
|
NM_000143.4(FH):c.998G>A (p.Cys333Tyr)
|
rs1553341032
|
|
NM_000144.5(FXN):c.11_12del (p.Leu4fs)
|
rs143232208
|
|
NM_000153.4(GALC):c.236G>A (p.Arg79His)
|
|
|
NM_000155.4(GALT):c.406G>C (p.Asp136His)
|
|
|
NM_000156.6(GAMT):c.59G>T (p.Trp20Leu)
|
rs80338734
|
|
NM_000157.4(GBA1):c.1534A>T (p.Lys512Ter)
|
rs1671660634
|
|
NM_000157.4(GBA1):c.364G>C (p.Gly122Arg)
|
|
|
NM_000157.4(GBA1):c.517A>G (p.Thr173Ala)
|
|
|
NM_000157.4(GBA1):c.845G>A (p.Gly282Glu)
|
|
|
NM_000158.4(GBE1):c.998A>T (p.Glu333Val)
|
rs1553684545
|
|
NM_000161.3(GCH1):c.343G>A (p.Asp115Asn)
|
rs1393095176
|
|
NM_000162.5(GCK):c.1136C>A (p.Ala379Glu)
|
rs193922265
|
|
NM_000162.5(GCK):c.1260G>T (p.Lys420Asn)
|
|
|
NM_000162.5(GCK):c.128G>A (p.Arg43His)
|
rs764232985
|
|
NM_000162.5(GCK):c.171G>A (p.Met57Ile)
|
rs1057520109
|
|
NM_000162.5(GCK):c.214G>A (p.Gly72Arg)
|
rs193922289
|
|
NM_000162.5(GCK):c.455T>C (p.Phe152Ser)
|
|
|
NM_000162.5(GCK):c.457C>T (p.Pro153Ser)
|
rs193922300
|
|
NM_000162.5(GCK):c.469G>A (p.Glu157Lys)
|
rs1554335570
|
|
NM_000162.5(GCK):c.523G>A (p.Gly175Arg)
|
rs587780344
|
|
NM_000162.5(GCK):c.540T>G (p.Asn180Lys)
|
rs1554335444
|
|
NM_000162.5(GCK):c.542T>C (p.Val181Ala)
|
rs193922306
|
|
NM_000162.5(GCK):c.566T>C (p.Ile189Thr)
|
rs1554335441
|
|
NM_000162.5(GCK):c.580-1G>C
|
|
|
NM_000162.5(GCK):c.616A>C (p.Thr206Pro)
|
rs587780346
|
|
NM_000162.5(GCK):c.623C>T (p.Ala208Val)
|
rs746913146
|
|
NM_000162.5(GCK):c.626C>T (p.Thr209Met)
|
rs1583599303
|
|
NM_000162.5(GCK):c.627GAT[3] (p.Met210_Ile211insMet)
|
|
|
NM_000162.5(GCK):c.659G>A (p.Cys220Tyr)
|
rs193922316
|
|
NM_000162.5(GCK):c.680-2A>G
|
rs1562715657
|
|
NM_000162.5(GCK):c.731T>A (p.Val244Glu)
|
|
|
NM_000162.5(GCK):c.731T>G (p.Val244Gly)
|
|
|
NM_000162.5(GCK):c.748C>T (p.Arg250Cys)
|
rs1057524904
|
|
NM_000162.5(GCK):c.776C>T (p.Ala259Val)
|
rs1554335132
|
|
NM_000162.5(GCK):c.907C>T (p.Arg303Trp)
|
rs193922336
|
|
NM_000165.5(GJA1):c.113G>C (p.Gly38Ala)
|
rs1554200990
|
|
NM_000165.5(GJA1):c.604C>T (p.Arg202Cys)
|
rs765192739
|
|
NM_000165.5(GJA1):c.75G>C (p.Trp25Cys)
|
rs1773898476
|
|
NM_000166.6(GJB1):c.151T>C (p.Phe51Leu)
|
rs876661269
|
|
NM_000166.6(GJB1):c.160A>C (p.Asn54His)
|
rs2092542986
|
|
NM_000166.6(GJB1):c.223C>T (p.Arg75Trp)
|
rs116840819
|
|
NM_000166.6(GJB1):c.283G>A (p.Val95Met)
|
rs104894821
|
|
NM_000166.6(GJB1):c.425G>A (p.Arg142Gln)
|
rs786204123
|
|
NM_000166.6(GJB1):c.467T>G (p.Leu156Arg)
|
rs104894818
|
|
NM_000169.3(GLA):c.1077_1086del (p.Gly360fs)
|
|
|
NM_000169.3(GLA):c.1A>G (p.Met1Val)
|
rs869312265
|
|
NM_000169.3(GLA):c.254G>A (p.Gly85Asp)
|
rs1569304898
|
|
NM_000169.3(GLA):c.444T>G (p.Ser148Arg)
|
rs1569304190
|
|
NM_000169.3(GLA):c.47T>C (p.Leu16Pro)
|
|
|
NM_000169.3(GLA):c.512G>A (p.Gly171Asp)
|
|
|
NM_000169.3(GLA):c.540G>T (p.Leu180Phe)
|
rs869312145
|
|
NM_000169.3(GLA):c.613C>A (p.Pro205Thr)
|
rs397515870
|
|
NM_000169.3(GLA):c.667T>C (p.Cys223Arg)
|
rs869312381
|
|
NM_000169.3(GLA):c.668G>A (p.Cys223Tyr)
|
rs869312382
|
|
NM_000169.3(GLA):c.695T>C (p.Ile232Thr)
|
rs797044749
|
|
NM_000169.3(GLA):c.704C>G (p.Ser235Cys)
|
rs797044746
|
|
NM_000169.3(GLA):c.713G>A (p.Ser238Asn)
|
rs730880450
|
|
NM_000169.3(GLA):c.812G>T (p.Gly271Val)
|
rs869312429
|
|
NM_000169.3(GLA):c.962A>G (p.Gln321Arg)
|
rs1928161905
|
|
NM_000179.2(MSH6):c.-127_196dup323
|
|
|
NM_000179.2:c.1826_1827insALU
|
|
|
NM_000179.2:c.3311_3312insSVA
|
|
|
NM_000179.2:c.3510_3511insALU
|
|
|
NM_000179.3(MSH6):c.1100A>G (p.His367Arg)
|
rs1553412495
|
|
NM_000179.3(MSH6):c.1147AGG[2] (p.Arg385del)
|
rs267608043
|
|
NM_000179.3(MSH6):c.1295T>C (p.Phe432Ser)
|
rs750528093
|
|
NM_000179.3(MSH6):c.1296T>G (p.Phe432Leu)
|
rs863224614
|
|
NM_000179.3(MSH6):c.1450G>A (p.Glu484Lys)
|
rs587782706
|
|
NM_000179.3(MSH6):c.1621A>C (p.Ser541Arg)
|
rs587779778
|
|
NM_000179.3(MSH6):c.1754T>C (p.Leu585Pro)
|
rs587779220
|
|
NM_000179.3(MSH6):c.2054G>A (p.Gly685Asp)
|
|
|
NM_000179.3(MSH6):c.2295C>G (p.Cys765Trp)
|
rs63750985
|
|
NM_000179.3(MSH6):c.2333T>C (p.Leu778Pro)
|
|
|
NM_000179.3(MSH6):c.2341C>T (p.Pro781Ser)
|
rs587779235
|
|
NM_000179.3(MSH6):c.2375T>C (p.Leu792Pro)
|
rs587779236
|
|
NM_000179.3(MSH6):c.2392_2394del (p.Leu798del)
|
|
|
NM_000179.3(MSH6):c.2393T>C (p.Leu798Pro)
|
|
|
NM_000179.3(MSH6):c.24C>G (p.Tyr8Ter)
|
rs746306598
|
|
NM_000179.3(MSH6):c.2559G>C (p.Lys853Asn)
|
rs765873566
|
|
NM_000179.3(MSH6):c.2559G>T (p.Lys853Asn)
|
|
|
NM_000179.3(MSH6):c.2591G>A (p.Gly864Glu)
|
rs587781306
|
|
NM_000179.3(MSH6):c.260+1G>C
|
rs1553408467
|
|
NM_000179.3(MSH6):c.260+2T>G
|
|
|
NM_000179.3(MSH6):c.260+2_260+3delinsAG
|
rs1064794075
|
|
NM_000179.3(MSH6):c.260G>C (p.Ser87Thr)
|
rs1114167734
|
|
NM_000179.3(MSH6):c.261-2del
|
|
|
NM_000179.3(MSH6):c.2873A>G (p.Gln958Arg)
|
rs876660185
|
|
NM_000179.3(MSH6):c.2874_2885del (p.Gln958_Ile962delinsHis)
|
rs1572729044
|
|
NM_000179.3(MSH6):c.2906A>G (p.Tyr969Cys)
|
rs63749919
|
|
NM_000179.3(MSH6):c.2927G>A (p.Arg976His)
|
rs63751113
|
|
NM_000179.3(MSH6):c.3023C>T (p.Thr1008Ile)
|
rs1558667779
|
|
NM_000179.3(MSH6):c.3037AAG[1] (p.Lys1014del)
|
rs267608073
|
|
NM_000179.3(MSH6):c.3172+1G>C
|
rs587779255
|
|
NM_000179.3(MSH6):c.3172G>C (p.Asp1058His)
|
rs863225404
|
|
NM_000179.3(MSH6):c.3172G>T (p.Asp1058Tyr)
|
|
|
NM_000179.3(MSH6):c.3173-10_3173-6del
|
rs781520783
|
|
NM_000179.3(MSH6):c.3173-1G>A
|
rs397515875
|
|
NM_000179.3(MSH6):c.3173-1_3173del
|
rs587779256
|
|
NM_000179.3(MSH6):c.3173-1del
|
|
|
NM_000179.3(MSH6):c.3173-2A>C
|
rs1553331242
|
|
NM_000179.3(MSH6):c.3188T>G (p.Leu1063Arg)
|
rs1060502901
|
|
NM_000179.3(MSH6):c.3226C>G (p.Arg1076Gly)
|
rs63750617
|
|
NM_000179.3(MSH6):c.3356_3358delinsGAT (p.Glu1119_Glu1120delinsGlyTer)
|
rs1114167695
|
|
NM_000179.3(MSH6):c.3400G>C (p.Gly1134Arg)
|
rs1114167697
|
|
NM_000179.3(MSH6):c.3415G>A (p.Gly1139Ser)
|
rs63751063
|
|
NM_000179.3(MSH6):c.3416G>A (p.Gly1139Asp)
|
rs1316409501
|
|
NM_000179.3(MSH6):c.3416G>T (p.Gly1139Val)
|
rs1316409501
|
|
NM_000179.3(MSH6):c.3431T>G (p.Met1144Arg)
|
rs864622607
|
|
NM_000179.3(MSH6):c.3438+2T>C
|
rs1033749344
|
|
NM_000179.3(MSH6):c.3438G>C (p.Gln1146His)
|
rs1114167759
|
|
NM_000179.3(MSH6):c.3438G>T (p.Gln1146His)
|
|
|
NM_000179.3(MSH6):c.3452C>A (p.Ala1151Asp)
|
rs587782625
|
|
NM_000179.3(MSH6):c.3461C>A (p.Ala1154Asp)
|
rs786202842
|
|
NM_000179.3(MSH6):c.3464A>G (p.Gln1155Arg)
|
rs1572738445
|
|
NM_000179.3(MSH6):c.3469G>A (p.Gly1157Ser)
|
rs587779264
|
|
NM_000179.3(MSH6):c.3482CTG[1] (p.Ala1162del)
|
rs63751427
|
|
NM_000179.3(MSH6):c.3485C>A (p.Ala1162Asp)
|
rs587779935
|
|
NM_000179.3(MSH6):c.3556+2T>C
|
rs1669882321
|
|
NM_000179.3(MSH6):c.3556+3_3556+13del
|
rs587779269
|
|
NM_000179.3(MSH6):c.3556+3_3556+6del
|
|
|
NM_000179.3(MSH6):c.3556+4_3556+8del
|
rs1572739119
|
|
NM_000179.3(MSH6):c.3557-1G>A
|
|
|
NM_000179.3(MSH6):c.3557-1G>T
|
rs1114167723
|
|
NM_000179.3(MSH6):c.3557-2A>C
|
|
|
NM_000179.3(MSH6):c.3577G>A (p.Glu1193Lys)
|
rs63751328
|
|
NM_000179.3(MSH6):c.3632T>G (p.Leu1211Arg)
|
|
|
NM_000179.3(MSH6):c.3646+1G>T
|
rs1553332772
|
|
NM_000179.3(MSH6):c.3646+1del
|
|
|
NM_000179.3(MSH6):c.3646+2T>C
|
rs1553332776
|
|
NM_000179.3(MSH6):c.3646+2T>G
|
|
|
NM_000179.3(MSH6):c.3646G>A (p.Gly1216Arg)
|
rs1114167690
|
|
NM_000179.3(MSH6):c.3647-2A>C
|
rs267608111
|
|
NM_000179.3(MSH6):c.3656C>T (p.Thr1219Ile)
|
rs63750949
|
|
NM_000179.3(MSH6):c.3683_3691del (p.Ala1228_Ala1230del)
|
rs2104538620
|
|
NM_000179.3(MSH6):c.3691GTT[1] (p.Val1232del)
|
rs587779284
|
|
NM_000179.3(MSH6):c.36dup (p.Lys13fs)
|
rs2103932294
|
|
NM_000179.3(MSH6):c.3701_3706dup (p.Glu1234_Leu1235dup)
|
rs63750523
|
|
NM_000179.3(MSH6):c.3706G>C (p.Ala1236Pro)
|
rs1553333039
|
|
NM_000179.3(MSH6):c.3722G>A (p.Cys1241Tyr)
|
rs1021631442
|
|
NM_000179.3(MSH6):c.3729ATT[1] (p.Leu1244del)
|
rs876658650
|
|
NM_000179.3(MSH6):c.3791_3801+25del
|
|
|
NM_000179.3(MSH6):c.3801+1G>A
|
|
|
NM_000179.3(MSH6):c.3801+1del
|
rs1553333185
|
|
NM_000179.3(MSH6):c.3801+2T>C
|
rs1558392617
|
|
NM_000179.3(MSH6):c.3802-7_3802-4del
|
rs876661171
|
|
NM_000179.3(MSH6):c.3851_3871del (p.Thr1284_Ile1290del)
|
rs1572746651
|
|
NM_000179.3(MSH6):c.3889_3891delinsGG (p.Ser1297fs)
|
|
|
NM_000179.3(MSH6):c.3916_3920dup (p.Asn1307fs)
|
rs1670120965
|
|
NM_000179.3(MSH6):c.3920_3927dup (p.Glu1310fs)
|
rs587779295
|
|
NM_000179.3(MSH6):c.3927_3938dup (p.Glu1310_Ile1313dup)
|
rs1670125444
|
|
NM_000179.3(MSH6):c.3929_3938del (p.Glu1310fs)
|
|
|
NM_000179.3(MSH6):c.3939dup (p.Gln1314fs)
|
rs1553333633
|
|
NM_000179.3(MSH6):c.3946G>C (p.Gly1316Arg)
|
rs773675555
|
|
NM_000179.3(MSH6):c.3947G>A (p.Gly1316Glu)
|
rs876661174
|
|
NM_000179.3(MSH6):c.3948_3953delinsCC (p.His1317fs)
|
|
|
NM_000179.3(MSH6):c.3956_3974del (p.Lys1319fs)
|
rs1558394336
|
|
NM_000179.3(MSH6):c.3957_3958dup (p.Ala1320fs)
|
|
|
NM_000179.3(MSH6):c.3957dup (p.Ala1320fs)
|
rs587779297
|
|
NM_000179.3(MSH6):c.4000_4001+20del
|
|
|
NM_000179.3(MSH6):c.4001+1G>C
|
rs1114167729
|
|
NM_000179.3(MSH6):c.4001+1G>T
|
|
|
NM_000179.3(MSH6):c.4001+1_4001+25del
|
|
|
NM_000179.3(MSH6):c.4001+2T>A
|
rs267608131
|
|
NM_000179.3(MSH6):c.4002-1G>A
|
rs1302369946
|
|
NM_000179.3(MSH6):c.4004_4007dup (p.Cys1337fs)
|
rs876658497
|
|
NM_000179.3(MSH6):c.4005_4008dup (p.Cys1337fs)
|
rs1670208407
|
|
NM_000179.3(MSH6):c.457+1G>T
|
rs2104112957
|
|
NM_000179.3(MSH6):c.457+2dup
|
rs876661224
|
|
NM_000179.3(MSH6):c.457G>C (p.Gly153Arg)
|
rs1060502885
|
|
NM_000179.3(MSH6):c.457G>T (p.Gly153Cys)
|
rs1060502885
|
|
NM_000188.3(HK1):c.1334C>T (p.Ser445Leu)
|
rs1064794848
|
|
NM_000188.3(HK1):c.1370C>T (p.Thr457Met)
|
rs1057517928
|
|
NM_000194.3(HPRT1):c.140A>T (p.Glu47Val)
|
|
|
NM_000194.3(HPRT1):c.148G>C (p.Ala50Pro)
|
rs1556026984
|
|
NM_000202.8(IDS):c.1406C>G (p.Pro469Arg)
|
|
|
NM_000202.8(IDS):c.1497T>G (p.Tyr499Ter)
|
rs2089304408
|
|
NM_000202.8(IDS):c.213C>A (p.Ser71Arg)
|
|
|
NM_000202.8(IDS):c.239A>G (p.Gln80Arg)
|
|
|
NM_000202.8(IDS):c.806A>T (p.Asp269Val)
|
rs1085308006
|
|
NM_000206.3(IL2RG):c.667G>T (p.Val223Phe)
|
rs2092258151
|
|
NM_000209.4(PDX1):c.188del (p.Pro63fs)
|
rs193929377
|
|
NM_000209.4(PDX1):c.217del (p.Leu73fs)
|
|
|
NM_000209.4(PDX1):c.671_672dup (p.Gln225fs)
|
|
|
NM_000217.3(KCNA1):c.1213C>G (p.Pro405Ala)
|
rs1947358808
|
|
NM_000217.3(KCNA1):c.745TTC[1] (p.Phe250del)
|
rs113994120
|
|
NM_000218.3(KCNQ1):c.1024C>T (p.Leu342Phe)
|
rs199472760
|
|
NM_000218.3(KCNQ1):c.1025T>A (p.Leu342His)
|
rs794728522
|
|
NM_000218.3(KCNQ1):c.1027C>T (p.Pro343Ser)
|
rs199472762
|
|
NM_000218.3(KCNQ1):c.1031C>A (p.Ala344Glu)
|
rs199472763
|
|
NM_000218.3(KCNQ1):c.1046C>G (p.Ser349Trp)
|
rs199472765
|
|
NM_000218.3(KCNQ1):c.1097G>T (p.Arg366Leu)
|
rs199473410
|
|
NM_000218.3(KCNQ1):c.1105C>G (p.Pro369Ala)
|
rs794728525
|
|
NM_000218.3(KCNQ1):c.1140G>T (p.Arg380Ser)
|
rs199472771
|
|
NM_000218.3(KCNQ1):c.1559T>G (p.Met520Arg)
|
rs199473479
|
|
NM_000218.3(KCNQ1):c.1565A>C (p.Tyr522Ser)
|
rs199472789
|
|
NM_000218.3(KCNQ1):c.1573G>A (p.Ala525Thr)
|
rs120074188
|
|
NM_000218.3(KCNQ1):c.1616G>A (p.Arg539Gln)
|
rs199472794
|
|
NM_000218.3(KCNQ1):c.1669A>G (p.Lys557Glu)
|
rs199472801
|
|
NM_000218.3(KCNQ1):c.1685+1G>A
|
rs794728531
|
|
NM_000218.3(KCNQ1):c.1686-2A>G
|
rs878854350
|
|
NM_000218.3(KCNQ1):c.1686G>C (p.Arg562Ser)
|
|
|
NM_000218.3(KCNQ1):c.1697C>T (p.Ser566Phe)
|
rs199472804
|
|
NM_000218.3(KCNQ1):c.1703G>C (p.Gly568Ala)
|
rs199472806
|
|
NM_000218.3(KCNQ1):c.1781G>C (p.Arg594Pro)
|
rs199472815
|
|
NM_000218.3(KCNQ1):c.1794+2T>C
|
|
|
NM_000218.3(KCNQ1):c.1795-2A>G
|
rs867564993
|
|
NM_000218.3(KCNQ1):c.1892_1911del (p.Pro631fs)
|
rs397508103
|
|
NM_000218.3(KCNQ1):c.1893dup (p.Arg632fs)
|
rs397508104
|
|
NM_000218.3(KCNQ1):c.341T>C (p.Leu114Pro)
|
rs199473448
|
|
NM_000218.3(KCNQ1):c.344A>G (p.Glu115Gly)
|
rs199472679
|
|
NM_000218.3(KCNQ1):c.478G>A (p.Glu160Lys)
|
rs199473453
|
|
NM_000218.3(KCNQ1):c.521G>C (p.Arg174Pro)
|
rs199472697
|
|
NM_000218.3(KCNQ1):c.532G>A (p.Ala178Thr)
|
rs120074177
|
|
NM_000218.3(KCNQ1):c.551A>C (p.Tyr184Ser)
|
rs199473397
|
|
NM_000218.3(KCNQ1):c.556G>T (p.Gly186Cys)
|
rs199473398
|
|
NM_000218.3(KCNQ1):c.568C>T (p.Arg190Trp)
|
rs199473662
|
|
NM_000218.3(KCNQ1):c.569G>T (p.Arg190Leu)
|
rs120074178
|
|
NM_000218.3(KCNQ1):c.677C>T (p.Ala226Val)
|
rs199472707
|
|
NM_000218.3(KCNQ1):c.692G>T (p.Arg231Leu)
|
rs199472709
|
|
NM_000218.3(KCNQ1):c.716T>C (p.Leu239Pro)
|
rs199473458
|
|
NM_000218.3(KCNQ1):c.726C>A (p.Asp242Glu)
|
rs1589957756
|
|
NM_000218.3(KCNQ1):c.760G>T (p.Val254Leu)
|
rs120074179
|
|
NM_000218.3(KCNQ1):c.776G>T (p.Arg259Leu)
|
rs199472720
|
|
NM_000218.3(KCNQ1):c.850G>A (p.Glu284Lys)
|
rs199472734
|
|
NM_000218.3(KCNQ1):c.902A>T (p.Asp301Val)
|
rs1554893260
|
|
NM_000218.3(KCNQ1):c.905C>A (p.Ala302Glu)
|
rs193922365
|
|
NM_000218.3(KCNQ1):c.921+1G>T
|
rs397508130
|
|
NM_000218.3(KCNQ1):c.921G>A (p.Val307=)
|
rs397508131
|
|
NM_000218.3(KCNQ1):c.935C>T (p.Thr312Ile)
|
rs120074182
|
|
NM_000218.3(KCNQ1):c.958C>T (p.Pro320Ser)
|
rs199472753
|
|
NM_000218.3(KCNQ1):c.964A>G (p.Thr322Ala)
|
rs199472754
|
|
NM_000218.3(KCNQ1):c.965C>G (p.Thr322Arg)
|
rs199472755
|
|
NM_000219.6(KCNE1):c.199C>T (p.Arg67Cys)
|
rs199473645
|
|
NM_000219.6(KCNE1):c.292C>T (p.Arg98Trp)
|
rs199473362
|
|
NM_000223.4(KRT12):c.385A>G (p.Met129Val)
|
rs267607387
|
|
NM_000226.4(KRT9):c.512T>G (p.Val171Gly)
|
|
|
NM_000229.2(LCAT):c.1267C>T (p.Arg423Cys)
|
|
|
NM_000237.3(LPL):c.242G>A (p.Gly81Asp)
|
rs762007406
|
|
NM_000238.4(KCNH2):c.1128+1G>C
|
|
|
NM_000238.4(KCNH2):c.1128G>A (p.Gln376=)
|
rs770047651
|
|
NM_000238.4(KCNH2):c.1280A>C (p.Tyr427Ser)
|
rs199472897
|
|
NM_000238.4(KCNH2):c.1421C>T (p.Thr474Ile)
|
rs199472906
|
|
NM_000238.4(KCNH2):c.1468G>A (p.Ala490Thr)
|
rs28928905
|
|
NM_000238.4(KCNH2):c.1496T>G (p.Leu499Arg)
|
rs794728370
|
|
NM_000238.4(KCNH2):c.1501G>A (p.Asp501Asn)
|
rs199472912
|
|
NM_000238.4(KCNH2):c.1520C>T (p.Pro507Leu)
|
rs794728372
|
|
NM_000238.4(KCNH2):c.1557+1G>C
|
rs886039043
|
|
NM_000238.4(KCNH2):c.157G>C (p.Gly53Arg)
|
rs199472842
|
|
NM_000238.4(KCNH2):c.157G>T (p.Gly53Cys)
|
rs199472842
|
|
NM_000238.4(KCNH2):c.164C>T (p.Ser55Leu)
|
rs199472844
|
|
NM_000238.4(KCNH2):c.1684C>T (p.His562Tyr)
|
rs794728481
|
|
NM_000238.4(KCNH2):c.1685A>G (p.His562Arg)
|
rs199472922
|
|
NM_000238.4(KCNH2):c.1693G>C (p.Ala565Pro)
|
rs199473518
|
|
NM_000238.4(KCNH2):c.1882G>C (p.Gly628Arg)
|
rs121912507
|
|
NM_000238.4(KCNH2):c.1894C>G (p.Pro632Ala)
|
rs199473527
|
|
NM_000238.4(KCNH2):c.1894C>T (p.Pro632Ser)
|
rs199473527
|
|
NM_000238.4(KCNH2):c.1904A>T (p.Asn635Ile)
|
rs199472964
|
|
NM_000238.4(KCNH2):c.1910AGA[1] (p.Lys638del)
|
rs794728442
|
|
NM_000238.4(KCNH2):c.1911G>C (p.Glu637Asp)
|
rs199472966
|
|
NM_000238.4(KCNH2):c.1945+1G>C
|
|
|
NM_000238.4(KCNH2):c.209A>G (p.His70Arg)
|
rs199473419
|
|
NM_000238.4(KCNH2):c.212G>A (p.Gly71Glu)
|
rs886039183
|
|
NM_000238.4(KCNH2):c.2145+1G>A
|
rs886039385
|
|
NM_000238.4(KCNH2):c.2146-1G>C
|
|
|
NM_000238.4(KCNH2):c.215C>T (p.Pro72Leu)
|
rs199473421
|
|
NM_000238.4(KCNH2):c.2312A>G (p.His771Arg)
|
rs1060500659
|
|
NM_000238.4(KCNH2):c.2398+5G>T
|
rs1554425149
|
|
NM_000238.4(KCNH2):c.2414T>G (p.Phe805Cys)
|
rs199472999
|
|
NM_000238.4(KCNH2):c.2510A>G (p.Asp837Gly)
|
rs199473004
|
|
NM_000238.4(KCNH2):c.298C>T (p.Arg100Trp)
|
rs121912515
|
|
NM_000238.4(KCNH2):c.3125T>C (p.Leu1042Pro)
|
rs886039064
|
|
NM_000238.4(KCNH2):c.832_916+11del
|
|
|
NM_000238.4(KCNH2):c.87C>G (p.Phe29Leu)
|
|
|
NM_000238.4(KCNH2):c.917-1G>T
|
|
|
NM_000245.4(MET):c.3689A>G (p.Tyr1230Cys)
|
rs121913246
|
|
NM_000245.4(MET):c.3749T>C (p.Met1250Thr)
|
rs121913245
|
|
NM_000249.3(MLH1):c.2104_2105delAG
|
rs63751651
|
|
NM_000249.3:c.(1667+1_1668-1)_(1731+1_1732-1)dup
|
|
|
NM_000249.3:c.(545+1_546-1)_(1558+1_1559-1)dup
|
|
|
NM_000249.4(MLH1):c.1024_1038+1del
|
rs1553648201
|
|
NM_000249.4(MLH1):c.1038+2T>A
|
|
|
NM_000249.4(MLH1):c.1038+2T>C
|
|
|
NM_000249.4(MLH1):c.1039-2A>T
|
rs267607815
|
|
NM_000249.4(MLH1):c.1039-3C>G
|
rs730881737
|
|
NM_000249.4(MLH1):c.109G>C (p.Glu37Gln)
|
rs63751012
|
|
NM_000249.4(MLH1):c.114C>G (p.Asn38Lys)
|
rs267607706
|
|
NM_000249.4(MLH1):c.115T>C (p.Cys39Arg)
|
rs587778890
|
|
NM_000249.4(MLH1):c.116+1G>A
|
rs267607709
|
|
NM_000249.4(MLH1):c.116+1G>T
|
rs267607709
|
|
NM_000249.4(MLH1):c.116+2T>A
|
|
|
NM_000249.4(MLH1):c.116+96C>T
|
|
|
NM_000249.4(MLH1):c.116G>A (p.Cys39Tyr)
|
rs63751701
|
|
NM_000249.4(MLH1):c.116_116+2del
|
|
|
NM_000249.4(MLH1):c.117-11T>A
|
rs267607711
|
|
NM_000249.4(MLH1):c.117-1G>C
|
|
|
NM_000249.4(MLH1):c.117-2A>C
|
|
|
NM_000249.4(MLH1):c.117-3C>G
|
|
|
NM_000249.4(MLH1):c.1178T>C (p.Leu393Pro)
|
rs786203413
|
|
NM_000249.4(MLH1):c.117T>G (p.Cys39Trp)
|
rs1305605404
|
|
NM_000249.4(MLH1):c.121G>T (p.Asp41Tyr)
|
|
|
NM_000249.4(MLH1):c.131C>A (p.Ser44Tyr)
|
rs63751109
|
|
NM_000249.4(MLH1):c.131_132delinsTT (p.Ser44Phe)
|
rs2125710774
|
|
NM_000249.4(MLH1):c.1409+2T>C
|
rs587778911
|
|
NM_000249.4(MLH1):c.1410-2A>G
|
rs746536721
|
|
NM_000249.4(MLH1):c.1558+1G>C
|
|
|
NM_000249.4(MLH1):c.1558+2T>A
|
rs267607831
|
|
NM_000249.4(MLH1):c.1558+2T>C
|
rs267607831
|
|
NM_000249.4(MLH1):c.1558_1558+1delinsAA
|
rs1575554246
|
|
NM_000249.4(MLH1):c.1559-1G>A
|
rs267607837
|
|
NM_000249.4(MLH1):c.1559-1G>C
|
rs267607837
|
|
NM_000249.4(MLH1):c.1588_1590del (p.Phe530del)
|
rs587778930
|
|
NM_000249.4(MLH1):c.1616C>A (p.Ala539Asp)
|
rs267607843
|
|
NM_000249.4(MLH1):c.1625A>C (p.Gln542Pro)
|
rs63750511
|
|
NM_000249.4(MLH1):c.1649T>G (p.Leu550Arg)
|
|
|
NM_000249.4(MLH1):c.1652A>C (p.Asn551Thr)
|
rs63750271
|
|
NM_000249.4(MLH1):c.1667+1del
|
rs1553658246
|
|
NM_000249.4(MLH1):c.1667+2T>C
|
rs878853780
|
|
NM_000249.4(MLH1):c.1668-2del
|
|
|
NM_000249.4(MLH1):c.1676T>C (p.Leu559Pro)
|
rs63750059
|
|
NM_000249.4(MLH1):c.1691T>G (p.Leu564Arg)
|
|
|
NM_000249.4(MLH1):c.1706C>T (p.Ala569Val)
|
rs1559578814
|
|
NM_000249.4(MLH1):c.170_181del (p.Lys57_Gln60del)
|
rs1575395286
|
|
NM_000249.4(MLH1):c.1714G>A (p.Gly572Ser)
|
rs587781796
|
|
NM_000249.4(MLH1):c.1721T>C (p.Leu574Pro)
|
rs63751608
|
|
NM_000249.4(MLH1):c.1731+1_1731+3delinsT
|
|
|
NM_000249.4(MLH1):c.1731+2T>C
|
rs267607856
|
|
NM_000249.4(MLH1):c.1731+2dup
|
|
|
NM_000249.4(MLH1):c.1731+5G>C
|
|
|
NM_000249.4(MLH1):c.1731G>T (p.Ser577=)
|
rs63751657
|
|
NM_000249.4(MLH1):c.1732-9_1747delinsCC
|
|
|
NM_000249.4(MLH1):c.1744C>T (p.Leu582Phe)
|
rs63751713
|
|
NM_000249.4(MLH1):c.1745T>G (p.Leu582Arg)
|
|
|
NM_000249.4(MLH1):c.1754T>C (p.Leu585Pro)
|
rs267607865
|
|
NM_000249.4(MLH1):c.1757C>A (p.Ala586Asp)
|
rs63750587
|
|
NM_000249.4(MLH1):c.1823C>A (p.Ala608Asp)
|
rs267607864
|
|
NM_000249.4(MLH1):c.1832TTG[1] (p.Val612del)
|
rs63750486
|
|
NM_000249.4(MLH1):c.1843_1845del (p.Leu615del)
|
|
|
NM_000249.4(MLH1):c.1855G>C (p.Ala619Pro)
|
rs267607866
|
|
NM_000249.4(MLH1):c.185A>C (p.Gln62Pro)
|
rs2081171469
|
|
NM_000249.4(MLH1):c.1865T>C (p.Leu622Pro)
|
rs63750693
|
|
NM_000249.4(MLH1):c.1865T>G (p.Leu622Arg)
|
|
|
NM_000249.4(MLH1):c.1877T>C (p.Phe626Ser)
|
rs587778952
|
|
NM_000249.4(MLH1):c.187G>C (p.Asp63His)
|
rs63750850
|
|
NM_000249.4(MLH1):c.188A>G (p.Asp63Gly)
|
rs1064795693
|
|
NM_000249.4(MLH1):c.1896+2T>C
|
rs267607869
|
|
NM_000249.4(MLH1):c.1896G>C (p.Glu632Asp)
|
|
|
NM_000249.4(MLH1):c.1896G>T (p.Glu632Asp)
|
|
|
NM_000249.4(MLH1):c.1897-14_1897-1del
|
|
|
NM_000249.4(MLH1):c.1897-15_1901del
|
|
|
NM_000249.4(MLH1):c.1906_1907delinsGG (p.Leu636Gly)
|
|
|
NM_000249.4(MLH1):c.1907T>C (p.Leu636Pro)
|
rs63750825
|
|
NM_000249.4(MLH1):c.1918C>A (p.Pro640Thr)
|
rs63749792
|
|
NM_000249.4(MLH1):c.1919C>T (p.Pro640Leu)
|
rs267607875
|
|
NM_000249.4(MLH1):c.1936T>G (p.Tyr646Asp)
|
|
|
NM_000249.4(MLH1):c.1937A>C (p.Tyr646Ser)
|
rs35045067
|
|
NM_000249.4(MLH1):c.193G>T (p.Gly65Cys)
|
|
|
NM_000249.4(MLH1):c.1942C>A (p.Pro648Thr)
|
|
|
NM_000249.4(MLH1):c.1943C>A (p.Pro648His)
|
|
|
NM_000249.4(MLH1):c.1943C>G (p.Pro648Arg)
|
rs63750610
|
|
NM_000249.4(MLH1):c.194G>A (p.Gly65Asp)
|
rs63751465
|
|
NM_000249.4(MLH1):c.1984A>C (p.Thr662Pro)
|
rs587778964
|
|
NM_000249.4(MLH1):c.1989+2T>C
|
rs1553664119
|
|
NM_000249.4(MLH1):c.1989+3dup
|
|
|
NM_000249.4(MLH1):c.1989G>A (p.Glu663=)
|
rs63751662
|
|
NM_000249.4(MLH1):c.1989G>C (p.Glu663Asp)
|
rs63751662
|
|
NM_000249.4(MLH1):c.1989_1989+8del
|
rs1575628928
|
|
NM_000249.4(MLH1):c.1990-11_1990-2delinsTT
|
|
|
NM_000249.4(MLH1):c.1990-2A>T
|
|
|
NM_000249.4(MLH1):c.1990-3C>G
|
rs267607882
|
|
NM_000249.4(MLH1):c.1995_1996delinsG (p.Asn665fs)
|
|
|
NM_000249.4(MLH1):c.2019del (p.Phe673fs)
|
|
|
NM_000249.4(MLH1):c.2024del (p.Ser675fs)
|
|
|
NM_000249.4(MLH1):c.2027T>G (p.Leu676Arg)
|
rs63750242
|
|
NM_000249.4(MLH1):c.2028_2032delinsT (p.Ser677fs)
|
|
|
NM_000249.4(MLH1):c.2032_2049del (p.Lys678_Phe683del)
|
|
|
NM_000249.4(MLH1):c.2037del (p.Glu679fs)
|
|
|
NM_000249.4(MLH1):c.203T>G (p.Ile68Ser)
|
rs63750281
|
|
NM_000249.4(MLH1):c.2042C>T (p.Ala681Val)
|
rs63750864
|
|
NM_000249.4(MLH1):c.2048T>C (p.Phe683Ser)
|
rs587778972
|
|
NM_000249.4(MLH1):c.2048_2050del (p.Phe683del)
|
rs1553664506
|
|
NM_000249.4(MLH1):c.2054C>T (p.Ser685Phe)
|
rs1064796101
|
|
NM_000249.4(MLH1):c.207+3A>C
|
|
|
NM_000249.4(MLH1):c.207+5G>A
|
rs587781518
|
|
NM_000249.4(MLH1):c.207+5G>C
|
rs587781518
|
|
NM_000249.4(MLH1):c.2072del (p.Ile691fs)
|
|
|
NM_000249.4(MLH1):c.2096del (p.Gly699fs)
|
|
|
NM_000249.4(MLH1):c.2103+2T>A
|
|
|
NM_000249.4(MLH1):c.2103+2T>C
|
|
|
NM_000249.4(MLH1):c.2103+2T>G
|
|
|
NM_000249.4(MLH1):c.2104-1G>A
|
rs587778978
|
|
NM_000249.4(MLH1):c.2104-1G>C
|
|
|
NM_000249.4(MLH1):c.2104-7_2147del
|
|
|
NM_000249.4(MLH1):c.2141_2142dup (p.Thr715fs)
|
|
|
NM_000249.4(MLH1):c.2156_2172del (p.Ile719fs)
|
|
|
NM_000249.4(MLH1):c.2158_2161del (p.Val720fs)
|
|
|
NM_000249.4(MLH1):c.2159T>G (p.Val720Gly)
|
rs587778985
|
|
NM_000249.4(MLH1):c.2162del (p.Tyr721fs)
|
rs786202767
|
|
NM_000249.4(MLH1):c.2172del (p.Leu724fs)
|
|
|
NM_000249.4(MLH1):c.2178del (p.His727fs)
|
|
|
NM_000249.4(MLH1):c.218T>C (p.Leu73Pro)
|
rs397514684
|
|
NM_000249.4(MLH1):c.218T>G (p.Leu73Arg)
|
rs397514684
|
|
NM_000249.4(MLH1):c.2219del (p.Ile740fs)
|
rs1575640960
|
|
NM_000249.4(MLH1):c.2221del (p.Leu741fs)
|
|
|
NM_000249.4(MLH1):c.2240_2241insGT (p.Asp748fs)
|
|
|
NM_000249.4(MLH1):c.2244_2249delinsG (p.Asp748fs)
|
|
|
NM_000249.4(MLH1):c.2248_2249del (p.Tyr750fs)
|
rs786202326
|
|
NM_000249.4(MLH1):c.2250_2251del (p.Tyr750_Lys751delinsTer)
|
|
|
NM_000249.4(MLH1):c.2252_2253dup (p.Val752fs)
|
rs267607901
|
|
NM_000249.4(MLH1):c.2253del (p.Val752fs)
|
rs267607901
|
|
NM_000249.4(MLH1):c.2255_2268delinsA (p.Val752fs)
|
|
|
NM_000249.4(MLH1):c.2263_2264del (p.Arg755fs)
|
rs1559597322
|
|
NM_000249.4(MLH1):c.2269T>C (p.Ter757Gln)
|
|
|
NM_000249.4(MLH1):c.2271A>C (p.Ter757Tyr)
|
rs267607908
|
|
NM_000249.4(MLH1):c.2271A>T (p.Ter757Tyr)
|
|
|
NM_000249.4(MLH1):c.242CTA[1] (p.Thr82del)
|
rs786202328
|
|
NM_000249.4(MLH1):c.250A>G (p.Lys84Glu)
|
rs63750641
|
|
NM_000249.4(MLH1):c.27G>A (p.Arg9=)
|
rs759680369
|
|
NM_000249.4(MLH1):c.292G>A (p.Gly98Ser)
|
rs267607725
|
|
NM_000249.4(MLH1):c.292G>C (p.Gly98Arg)
|
rs267607725
|
|
NM_000249.4(MLH1):c.296T>C (p.Phe99Ser)
|
|
|
NM_000249.4(MLH1):c.301G>A (p.Gly101Ser)
|
rs267607726
|
|
NM_000249.4(MLH1):c.301G>C (p.Gly101Arg)
|
rs267607726
|
|
NM_000249.4(MLH1):c.301G>T (p.Gly101Cys)
|
|
|
NM_000249.4(MLH1):c.302G>A (p.Gly101Asp)
|
rs267607727
|
|
NM_000249.4(MLH1):c.302G>T (p.Gly101Val)
|
rs267607727
|
|
NM_000249.4(MLH1):c.304G>A (p.Glu102Lys)
|
rs63750453
|
|
NM_000249.4(MLH1):c.305A>C (p.Glu102Ala)
|
rs1553640334
|
|
NM_000249.4(MLH1):c.306+2T>G
|
rs1553640340
|
|
NM_000249.4(MLH1):c.307-1G>A
|
|
|
NM_000249.4(MLH1):c.307-1G>C
|
rs267607736
|
|
NM_000249.4(MLH1):c.320T>A (p.Ile107Lys)
|
rs63750507
|
|
NM_000249.4(MLH1):c.332C>A (p.Ala111Asp)
|
|
|
NM_000249.4(MLH1):c.344T>A (p.Ile115Asn)
|
rs764120517
|
|
NM_000249.4(MLH1):c.350C>A (p.Thr117Lys)
|
|
|
NM_000249.4(MLH1):c.380+1del
|
|
|
NM_000249.4(MLH1):c.380+2T>C
|
rs267607742
|
|
NM_000249.4(MLH1):c.380G>C (p.Arg127Thr)
|
rs63751595
|
|
NM_000249.4(MLH1):c.380G>T (p.Arg127Ile)
|
rs63751595
|
|
NM_000249.4(MLH1):c.380_380+1insTAT
|
|
|
NM_000249.4(MLH1):c.439G>C (p.Gly147Arg)
|
rs267607747
|
|
NM_000249.4(MLH1):c.440G>A (p.Gly147Glu)
|
rs1060500702
|
|
NM_000249.4(MLH1):c.453+1G>A
|
rs267607750
|
|
NM_000249.4(MLH1):c.453+1G>C
|
rs267607750
|
|
NM_000249.4(MLH1):c.453+1G>T
|
rs267607750
|
|
NM_000249.4(MLH1):c.453+2T>A
|
|
|
NM_000249.4(MLH1):c.453+2dup
|
|
|
NM_000249.4(MLH1):c.454-10_455delinsGAACA
|
|
|
NM_000249.4(MLH1):c.454-3_454delinsT
|
|
|
NM_000249.4(MLH1):c.454-7T>A
|
|
|
NM_000249.4(MLH1):c.455T>G (p.Val152Gly)
|
rs1559523949
|
|
NM_000249.4(MLH1):c.485_523del (p.Arg162_Gly174del)
|
|
|
NM_000249.4(MLH1):c.538_545+27delinsTG
|
|
|
NM_000249.4(MLH1):c.543C>T (p.Gly181=)
|
rs1481129490
|
|
NM_000249.4(MLH1):c.545+1G>C
|
|
|
NM_000249.4(MLH1):c.545+1_545+6del
|
|
|
NM_000249.4(MLH1):c.546-1G>A
|
rs587779022
|
|
NM_000249.4(MLH1):c.546-1G>C
|
rs587779022
|
|
NM_000249.4(MLH1):c.546-1G>T
|
|
|
NM_000249.4(MLH1):c.554T>G (p.Val185Gly)
|
rs63750515
|
|
NM_000249.4(MLH1):c.55A>T (p.Ile19Phe)
|
rs63750648
|
|
NM_000249.4(MLH1):c.581T>G (p.Val194Gly)
|
rs876658962
|
|
NM_000249.4(MLH1):c.588+1del
|
rs267607773
|
|
NM_000249.4(MLH1):c.588+2T>C
|
|
|
NM_000249.4(MLH1):c.588+5G>C
|
rs267607768
|
|
NM_000249.4(MLH1):c.588+5G>T
|
rs267607768
|
|
NM_000249.4(MLH1):c.589-2A>T
|
|
|
NM_000249.4(MLH1):c.62C>T (p.Ala21Val)
|
rs63750706
|
|
NM_000249.4(MLH1):c.678-18_685del
|
|
|
NM_000249.4(MLH1):c.69A>C (p.Glu23Asp)
|
|
|
NM_000249.4(MLH1):c.69A>T (p.Glu23Asp)
|
rs63750555
|
|
NM_000249.4(MLH1):c.71_75del (p.Val24fs)
|
rs1553637293
|
|
NM_000249.4(MLH1):c.730G>C (p.Gly244Arg)
|
|
|
NM_000249.4(MLH1):c.731G>T (p.Gly244Val)
|
rs63750303
|
|
NM_000249.4(MLH1):c.739T>C (p.Ser247Pro)
|
rs63750948
|
|
NM_000249.4(MLH1):c.760A>T (p.Lys254Ter)
|
|
|
NM_000249.4(MLH1):c.770_790+82delinsA
|
|
|
NM_000249.4(MLH1):c.783C>T (p.Phe261=)
|
rs768119795
|
|
NM_000249.4(MLH1):c.789_790+4del
|
|
|
NM_000249.4(MLH1):c.790+1_790+2delinsTA
|
|
|
NM_000249.4(MLH1):c.790+3A>C
|
|
|
NM_000249.4(MLH1):c.790+3A>T
|
rs267607792
|
|
NM_000249.4(MLH1):c.790+4A>C
|
rs267607786
|
|
NM_000249.4(MLH1):c.790+4A>G
|
rs267607786
|
|
NM_000249.4(MLH1):c.790+4del
|
|
|
NM_000249.4(MLH1):c.791-1G>A
|
rs267607795
|
|
NM_000249.4(MLH1):c.794G>C (p.Arg265Pro)
|
rs63751448
|
|
NM_000249.4(MLH1):c.875T>C (p.Leu292Pro)
|
rs63750517
|
|
NM_000249.4(MLH1):c.883A>C (p.Ser295Arg)
|
rs63751598
|
|
NM_000249.4(MLH1):c.884+1G>T
|
|
|
NM_000249.4(MLH1):c.884G>T (p.Ser295Ile)
|
rs63750144
|
|
NM_000249.4(MLH1):c.885-1G>A
|
rs1553647894
|
|
NM_000249.4(MLH1):c.885-25_1014delinsCA
|
|
|
NM_000249.4(MLH1):c.885-2A>G
|
rs267607805
|
|
NM_000249.4(MLH1):c.95T>A (p.Ile32Asn)
|
rs1575377175
|
|
NM_000249.4(MLH1):c.974_1000del (p.Arg325_Lys333del)
|
|
|
NM_000249.4(MLH1):c.977T>A (p.Val326Glu)
|
rs63751049
|
|
NM_000249.4(MLH1):c.988_990del (p.Ile330del)
|
rs63751197
|
|
NM_000251.1(MSH2):c.-68-1376_95del1539
|
|
|
NM_000251.1:c.(366+1_367-1)_(1076+1_1077-1)dup
|
|
|
NM_000251.1:c.1442_1443insALU
|
|
|
NM_000251.1:c.212-15_212-14insALU
|
|
|
NM_000251.3(MSH2):c.1003A>C (p.Thr335Pro)
|
|
|
NM_000251.3(MSH2):c.1003A>G (p.Thr335Ala)
|
|
|
NM_000251.3(MSH2):c.1013_1014delinsAT (p.Gly338Asp)
|
|
|
NM_000251.3(MSH2):c.1033_1034insTAT (p.Gln344_Trp345insLeu)
|
rs587782374
|
|
NM_000251.3(MSH2):c.1044_1045delinsCT (p.Gln348_Pro349delinsHisSer)
|
|
|
NM_000251.3(MSH2):c.1046C>A (p.Pro349His)
|
|
|
NM_000251.3(MSH2):c.1067T>A (p.Ile356Lys)
|
rs753075410
|
|
NM_000251.3(MSH2):c.1075A>G (p.Arg359Gly)
|
|
|
NM_000251.3(MSH2):c.1076+1G>C
|
rs267607940
|
|
NM_000251.3(MSH2):c.1076+2T>C
|
|
|
NM_000251.3(MSH2):c.1076G>T (p.Arg359Ile)
|
rs63751604
|
|
NM_000251.3(MSH2):c.108_159del (p.Phe37fs)
|
|
|
NM_000251.3(MSH2):c.1103_1138del (p.Glu368_Leu380delinsVal)
|
|
|
NM_000251.3(MSH2):c.1227_1238del (p.Gly410_Gln413del)
|
rs1573485191
|
|
NM_000251.3(MSH2):c.1241T>C (p.Leu414Pro)
|
rs587779078
|
|
NM_000251.3(MSH2):c.1270_1276+7del
|
|
|
NM_000251.3(MSH2):c.1276G>C (p.Gly426Arg)
|
rs879254234
|
|
NM_000251.3(MSH2):c.1277-14C>G
|
rs267607951
|
|
NM_000251.3(MSH2):c.1277-1G>C
|
rs267607948
|
|
NM_000251.3(MSH2):c.1313CTC[1] (p.Pro439del)
|
rs587779082
|
|
NM_000251.3(MSH2):c.1319T>G (p.Leu440Arg)
|
rs587779084
|
|
NM_000251.3(MSH2):c.1355A>T (p.Glu452Val)
|
rs1553361274
|
|
NM_000251.3(MSH2):c.1361T>A (p.Ile454Lys)
|
|
|
NM_000251.3(MSH2):c.1380_1386+11del
|
|
|
NM_000251.3(MSH2):c.1386+1G>C
|
rs267607957
|
|
NM_000251.3(MSH2):c.1386+2T>G
|
|
|
NM_000251.3(MSH2):c.1387-1G>A
|
rs267607956
|
|
NM_000251.3(MSH2):c.1387-2012C>T
|
|
|
NM_000251.3(MSH2):c.1427_1510+38delinsATTTGATCCTAATC
|
|
|
NM_000251.3(MSH2):c.1433T>G (p.Leu478Arg)
|
|
|
NM_000251.3(MSH2):c.1498G>C (p.Ala500Pro)
|
rs1666733944
|
|
NM_000251.3(MSH2):c.1510+1G>A
|
rs1114167852
|
|
NM_000251.3(MSH2):c.1511-1G>T
|
rs267607964
|
|
NM_000251.3(MSH2):c.1511-2A>C
|
rs267607962
|
|
NM_000251.3(MSH2):c.1568T>C (p.Phe523Ser)
|
rs587782587
|
|
NM_000251.3(MSH2):c.1571G>C (p.Arg524Pro)
|
rs63751207
|
|
NM_000251.3(MSH2):c.1659_1661+8del
|
|
|
NM_000251.3(MSH2):c.1660A>C (p.Ser554Arg)
|
rs63751656
|
|
NM_000251.3(MSH2):c.1660A>G (p.Ser554Gly)
|
rs63751656
|
|
NM_000251.3(MSH2):c.1660_1661+3del
|
|
|
NM_000251.3(MSH2):c.1661+2T>C
|
rs1553366680
|
|
NM_000251.3(MSH2):c.1661+5G>C
|
rs267607972
|
|
NM_000251.3(MSH2):c.1661G>T (p.Ser554Ile)
|
|
|
NM_000251.3(MSH2):c.1662-1G>T
|
|
|
NM_000251.3(MSH2):c.1662-2A>G
|
rs267607971
|
|
NM_000251.3(MSH2):c.1667T>C (p.Leu556Ser)
|
rs587779101
|
|
NM_000251.3(MSH2):c.1721A>C (p.Gln574Pro)
|
rs1667078647
|
|
NM_000251.3(MSH2):c.1759+1G>T
|
rs587779108
|
|
NM_000251.3(MSH2):c.1759+2T>C
|
rs267607976
|
|
NM_000251.3(MSH2):c.1759G>A (p.Gly587Ser)
|
rs63751140
|
|
NM_000251.3(MSH2):c.1760-2A>G
|
rs1573566175
|
|
NM_000251.3(MSH2):c.1799C>A (p.Ala600Asp)
|
|
|
NM_000251.3(MSH2):c.1799C>T (p.Ala600Val)
|
rs63751236
|
|
NM_000251.3(MSH2):c.1805T>C (p.Leu602Pro)
|
rs1553368561
|
|
NM_000251.3(MSH2):c.1807G>T (p.Asp603Tyr)
|
|
|
NM_000251.3(MSH2):c.1808A>C (p.Asp603Ala)
|
rs267607985
|
|
NM_000251.3(MSH2):c.1808A>G (p.Asp603Gly)
|
rs267607985
|
|
NM_000251.3(MSH2):c.1812TGT[1] (p.Val606del)
|
rs267607978
|
|
NM_000251.3(MSH2):c.1829A>C (p.His610Pro)
|
|
|
NM_000251.3(MSH2):c.182_211+1delinsC
|
|
|
NM_000251.3(MSH2):c.1864C>A (p.Pro622Thr)
|
rs63750280
|
|
NM_000251.3(MSH2):c.1865C>A (p.Pro622Gln)
|
rs28929483
|
|
NM_000251.3(MSH2):c.1865C>G (p.Pro622Arg)
|
rs28929483
|
|
NM_000251.3(MSH2):c.1871T>G (p.Ile624Ser)
|
rs1114167870
|
|
NM_000251.3(MSH2):c.1890A>T (p.Gly630=)
|
|
|
NM_000251.3(MSH2):c.1998_2005+11del
|
|
|
NM_000251.3(MSH2):c.2005+1G>T
|
rs267607986
|
|
NM_000251.3(MSH2):c.2005+2dup
|
rs541623924
|
|
NM_000251.3(MSH2):c.2005+3_2005+14del
|
rs587779125
|
|
NM_000251.3(MSH2):c.2006-1_2012del
|
|
|
NM_000251.3(MSH2):c.2006-3T>G
|
rs1553368975
|
|
NM_000251.3(MSH2):c.2006-7_2022del
|
rs2104367794
|
|
NM_000251.3(MSH2):c.2006G>A (p.Gly669Asp)
|
rs63751640
|
|
NM_000251.3(MSH2):c.2006_2007delinsTT (p.Gly669Val)
|
|
|
NM_000251.3(MSH2):c.2011A>T (p.Asn671Tyr)
|
rs63751232
|
|
NM_000251.3(MSH2):c.2012A>T (p.Asn671Ile)
|
|
|
NM_000251.3(MSH2):c.2019_2021del (p.Gly674del)
|
|
|
NM_000251.3(MSH2):c.2020G>A (p.Gly674Ser)
|
rs63750234
|
|
NM_000251.3(MSH2):c.2021G>T (p.Gly674Val)
|
|
|
NM_000251.3(MSH2):c.2023A>G (p.Lys675Glu)
|
rs1060501990
|
|
NM_000251.3(MSH2):c.2026T>C (p.Ser676Pro)
|
rs63751089
|
|
NM_000251.3(MSH2):c.203_211+9delinsTGCCCGCG
|
|
|
NM_000251.3(MSH2):c.2042A>C (p.Gln681Pro)
|
rs1667302018
|
|
NM_000251.3(MSH2):c.2060T>G (p.Leu687Arg)
|
|
|
NM_000251.3(MSH2):c.2065G>C (p.Ala689Pro)
|
rs914610419
|
|
NM_000251.3(MSH2):c.2066C>A (p.Ala689Asp)
|
rs1060502020
|
|
NM_000251.3(MSH2):c.2075G>A (p.Gly692Glu)
|
rs63751432
|
|
NM_000251.3(MSH2):c.2079T>G (p.Cys693Trp)
|
|
|
NM_000251.3(MSH2):c.207_211+42del
|
rs1553348901
|
|
NM_000251.3(MSH2):c.2080T>A (p.Phe694Ile)
|
rs63751409
|
|
NM_000251.3(MSH2):c.2083G>A (p.Val695Met)
|
rs772491283
|
|
NM_000251.3(MSH2):c.2091T>G (p.Cys697Trp)
|
|
|
NM_000251.3(MSH2):c.2099C>A (p.Ala700Glu)
|
rs876658251
|
|
NM_000251.3(MSH2):c.2105T>A (p.Val702Glu)
|
rs587779137
|
|
NM_000251.3(MSH2):c.211+1G>A
|
|
|
NM_000251.3(MSH2):c.212-2A>G
|
rs267607917
|
|
NM_000251.3(MSH2):c.2132G>C (p.Arg711Pro)
|
rs138465383
|
|
NM_000251.3(MSH2):c.2210+1G>T
|
rs267608002
|
|
NM_000251.3(MSH2):c.2210_2210+1delinsTA
|
rs1114167890
|
|
NM_000251.3(MSH2):c.2211-10T>A
|
rs267608006
|
|
NM_000251.3(MSH2):c.2211-1G>A
|
rs267607979
|
|
NM_000251.3(MSH2):c.2211-1G>C
|
rs267607979
|
|
NM_000251.3(MSH2):c.2211-2A>G
|
rs267608001
|
|
NM_000251.3(MSH2):c.2211-3_2211-2delinsG
|
|
|
NM_000251.3(MSH2):c.2232AAT[1] (p.Ile747del)
|
rs267607690
|
|
NM_000251.3(MSH2):c.2242G>C (p.Asp748His)
|
rs267608007
|
|
NM_000251.3(MSH2):c.2242G>T (p.Asp748Tyr)
|
rs267608007
|
|
NM_000251.3(MSH2):c.2245G>A (p.Glu749Lys)
|
rs63751477
|
|
NM_000251.3(MSH2):c.2281G>A (p.Gly761Arg)
|
rs1060502038
|
|
NM_000251.3(MSH2):c.2281G>C (p.Gly761Arg)
|
rs1060502038
|
|
NM_000251.3(MSH2):c.2320A>G (p.Ile774Val)
|
rs775464903
|
|
NM_000251.3(MSH2):c.2360T>G (p.Leu787Arg)
|
rs1558521929
|
|
NM_000251.3(MSH2):c.2399T>C (p.Leu800Pro)
|
|
|
NM_000251.3(MSH2):c.2402A>C (p.His801Pro)
|
rs1114167875
|
|
NM_000251.3(MSH2):c.2458+1G>C
|
|
|
NM_000251.3(MSH2):c.2458+976A>G
|
rs2104420229
|
|
NM_000251.3(MSH2):c.2458+985A>G
|
|
|
NM_000251.3(MSH2):c.2459-11A>G
|
|
|
NM_000251.3(MSH2):c.2459-12A>G
|
rs267608012
|
|
NM_000251.3(MSH2):c.2459-1G>C
|
rs1060501991
|
|
NM_000251.3(MSH2):c.2459-2A>T
|
|
|
NM_000251.3(MSH2):c.2459-5_2460del
|
|
|
NM_000251.3(MSH2):c.2459-954A>G
|
rs2104421991
|
|
NM_000251.3(MSH2):c.2520_2524delinsGCTAAAC (p.Ile841fs)
|
|
|
NM_000251.3(MSH2):c.2635-12C>G
|
rs1436357692
|
|
NM_000251.3(MSH2):c.2635-1G>T
|
rs267608020
|
|
NM_000251.3(MSH2):c.2635-24A>G
|
rs1667575488
|
|
NM_000251.3(MSH2):c.2635-2A>C
|
rs1114167818
|
|
NM_000251.3(MSH2):c.2635-2A>T
|
rs1114167818
|
|
NM_000251.3(MSH2):c.2641G>T (p.Glu881Ter)
|
|
|
NM_000251.3(MSH2):c.2656G>T (p.Glu886Ter)
|
rs1230083633
|
|
NM_000251.3(MSH2):c.2740del (p.Glu914fs)
|
rs1573582750
|
|
NM_000251.3(MSH2):c.301_306del (p.Glu101_Val102del)
|
rs587779157
|
|
NM_000251.3(MSH2):c.366+1G>T
|
rs267607924
|
|
NM_000251.3(MSH2):c.366+1_366+2insAAGAATGATTGGTATTTGGCATATAAGG
|
|
|
NM_000251.3(MSH2):c.366+1dup
|
|
|
NM_000251.3(MSH2):c.366+2T>C
|
rs1558457533
|
|
NM_000251.3(MSH2):c.366+2T>G
|
|
|
NM_000251.3(MSH2):c.366+2_366+5delinsCA
|
|
|
NM_000251.3(MSH2):c.367-1G>A
|
rs267607925
|
|
NM_000251.3(MSH2):c.445G>C (p.Gly149Arg)
|
|
|
NM_000251.3(MSH2):c.488T>A (p.Val163Asp)
|
rs63750214
|
|
NM_000251.3(MSH2):c.518T>C (p.Leu173Pro)
|
rs63750070
|
|
NM_000251.3(MSH2):c.524T>C (p.Leu175Pro)
|
rs63751291
|
|
NM_000251.3(MSH2):c.560T>A (p.Leu187His)
|
|
|
NM_000251.3(MSH2):c.569T>C (p.Leu190Pro)
|
rs1114167878
|
|
NM_000251.3(MSH2):c.572T>G (p.Leu191Arg)
|
|
|
NM_000251.3(MSH2):c.592G>A (p.Glu198Lys)
|
rs587779166
|
|
NM_000251.3(MSH2):c.593A>C (p.Glu198Ala)
|
|
|
NM_000251.3(MSH2):c.596G>A (p.Cys199Tyr)
|
rs63751136
|
|
NM_000251.3(MSH2):c.597T>G (p.Cys199Trp)
|
rs1573441776
|
|
NM_000251.3(MSH2):c.599T>A (p.Val200Asp)
|
rs587779167
|
|
NM_000251.3(MSH2):c.645+2T>C
|
rs876658996
|
|
NM_000251.3(MSH2):c.645+2dup
|
|
|
NM_000251.3(MSH2):c.646-19_661del
|
|
|
NM_000251.3(MSH2):c.646-2A>C
|
rs587779169
|
|
NM_000251.3(MSH2):c.646-2A>T
|
rs587779169
|
|
NM_000251.3(MSH2):c.646-3_654del
|
rs267607929
|
|
NM_000251.3(MSH2):c.646-6_727del
|
|
|
NM_000251.3(MSH2):c.792+1G>C
|
rs267607934
|
|
NM_000251.3(MSH2):c.792+2T>A
|
|
|
NM_000251.3(MSH2):c.792+2T>C
|
rs587782408
|
|
NM_000251.3(MSH2):c.793-1G>C
|
|
|
NM_000251.3(MSH2):c.793-1G>T
|
|
|
NM_000251.3(MSH2):c.793-2A>G
|
rs267607933
|
|
NM_000251.3(MSH2):c.806C>T (p.Ser269Leu)
|
rs63750058
|
|
NM_000251.3(MSH2):c.942+3A>C
|
rs193922376
|
|
NM_000251.3(MSH2):c.942+3A>G
|
rs193922376
|
|
NM_000251.3(MSH2):c.942+3_942+4delinsGT
|
|
|
NM_000251.3(MSH2):c.942G>T (p.Gln314His)
|
rs587779197
|
|
NM_000251.3(MSH2):c.943-10_943-2del
|
|
|
NM_000251.3(MSH2):c.998G>T (p.Cys333Phe)
|
rs63750828
|
|
NM_000252.3(MTM1):c.1132G>A (p.Gly378Arg)
|
rs587783755
|
|
NM_000256.3(MYBPC3):c.107del (p.Ala36fs)
|
|
|
NM_000256.3(MYBPC3):c.1090G>A (p.Ala364Thr)
|
rs794727046
|
|
NM_000256.3(MYBPC3):c.1227-39_1263del
|
|
|
NM_000256.3(MYBPC3):c.1483C>T (p.Arg495Trp)
|
rs397515905
|
|
NM_000256.3(MYBPC3):c.1504C>G (p.Arg502Gly)
|
rs375882485
|
|
NM_000256.3(MYBPC3):c.1790+1G>A
|
rs1555122053
|
|
NM_000256.3(MYBPC3):c.1A>T (p.Met1Leu)
|
rs1461764618
|
|
NM_000256.3(MYBPC3):c.2148+1G>T
|
rs1060499604
|
|
NM_000256.3(MYBPC3):c.2291_2308+3del
|
|
|
NM_000256.3(MYBPC3):c.2413+2T>A
|
|
|
NM_000256.3(MYBPC3):c.2429G>T (p.Arg810Leu)
|
rs375675796
|
|
NM_000256.3(MYBPC3):c.2458C>T (p.Arg820Trp)
|
rs775404728
|
|
NM_000256.3(MYBPC3):c.2603-1G>C
|
rs977277400
|
|
NM_000256.3(MYBPC3):c.2738-2A>G
|
|
|
NM_000256.3(MYBPC3):c.3190+5G>C
|
|
|
NM_000256.3(MYBPC3):c.3330+1G>T
|
rs1298025872
|
|
NM_000256.3(MYBPC3):c.3330+5G>T
|
rs373746463
|
|
NM_000256.3(MYBPC3):c.3404ACT[1] (p.Tyr1136del)
|
rs730880674
|
|
NM_000256.3(MYBPC3):c.3491-2A>C
|
rs397516022
|
|
NM_000256.3(MYBPC3):c.3491-3C>G
|
rs730880592
|
|
NM_000256.3(MYBPC3):c.3593_3627+20del
|
|
|
NM_000256.3(MYBPC3):c.3713T>C (p.Leu1238Pro)
|
rs730880702
|
|
NM_000256.3(MYBPC3):c.3764CCA[1] (p.Thr1256del)
|
rs397516040
|
|
NM_000256.3(MYBPC3):c.3782_3792delinsCCTG (p.Glu1261fs)
|
rs1085307897
|
|
NM_000256.3(MYBPC3):c.3787del (p.Arg1263fs)
|
|
|
NM_000256.3(MYBPC3):c.3815-1G>A
|
rs397516044
|
|
NM_000256.3(MYBPC3):c.709T>C (p.Tyr237His)
|
rs730880624
|
|
NM_000256.3(MYBPC3):c.710A>G (p.Tyr237Cys)
|
|
|
NM_000256.3(MYBPC3):c.821+2dup
|
|
|
NM_000256.3(MYBPC3):c.821+3G>T
|
rs727503213
|
|
NM_000257.4(MYH7):c.1012G>A (p.Val338Met)
|
rs727503271
|
|
NM_000257.4(MYH7):c.1051A>G (p.Lys351Glu)
|
rs730880864
|
|
NM_000257.4(MYH7):c.1219G>T (p.Gly407Cys)
|
|
|
NM_000257.4(MYH7):c.1220G>T (p.Gly407Val)
|
rs397516095
|
|
NM_000257.4(MYH7):c.1319T>C (p.Val440Ala)
|
rs1244840759
|
|
NM_000257.4(MYH7):c.1358G>T (p.Arg453Leu)
|
rs397516101
|
|
NM_000257.4(MYH7):c.1436A>G (p.Asn479Ser)
|
rs727504236
|
|
NM_000257.4(MYH7):c.1477A>G (p.Met493Val)
|
rs730880875
|
|
NM_000257.4(MYH7):c.1618T>C (p.Phe540Leu)
|
rs1060501443
|
|
NM_000257.4(MYH7):c.1751G>A (p.Gly584Asp)
|
|
|
NM_000257.4(MYH7):c.1826A>G (p.Tyr609Cys)
|
rs727504925
|
|
NM_000257.4(MYH7):c.1987C>A (p.Arg663Ser)
|
rs397516127
|
|
NM_000257.4(MYH7):c.2104A>G (p.Ile702Val)
|
rs863225101
|
|
NM_000257.4(MYH7):c.2129C>A (p.Pro710His)
|
rs727504272
|
|
NM_000257.4(MYH7):c.2345G>A (p.Ser782Asn)
|
rs886039185
|
|
NM_000257.4(MYH7):c.2539_2541del (p.Lys847del)
|
rs397516155
|
|
NM_000257.4(MYH7):c.2546T>C (p.Met849Thr)
|
rs397516156
|
|
NM_000257.4(MYH7):c.2573G>C (p.Arg858Pro)
|
rs2856897
|
|
NM_000257.4(MYH7):c.2602G>C (p.Ala868Pro)
|
rs727504356
|
|
NM_000257.4(MYH7):c.2605C>T (p.Arg869Cys)
|
rs730880750
|
|
NM_000257.4(MYH7):c.2608C>T (p.Arg870Cys)
|
rs138049878
|
|
NM_000257.4(MYH7):c.2631G>A (p.Met877Ile)
|
rs1060505018
|
|
NM_000257.4(MYH7):c.2711G>C (p.Arg904Pro)
|
rs397516165
|
|
NM_000257.4(MYH7):c.2761G>A (p.Glu921Lys)
|
rs730880759
|
|
NM_000257.4(MYH7):c.2782G>A (p.Asp928Asn)
|
rs727503252
|
|
NM_000257.4(MYH7):c.2863G>A (p.Asp955Asn)
|
rs886039204
|
|
NM_000257.4(MYH7):c.2886del (p.Val964fs)
|
rs886038901
|
|
NM_000257.4(MYH7):c.3134G>T (p.Arg1045Leu)
|
rs397516178
|
|
NM_000257.4(MYH7):c.3347AGGAGCTGGAGG[3] (p.1116EELE[3])
|
rs1064792935
|
|
NM_000257.4(MYH7):c.4144C>T (p.Arg1382Trp)
|
rs730880910
|
|
NM_000257.4(MYH7):c.4259G>A (p.Arg1420Gln)
|
rs397516207
|
|
NM_000257.4(MYH7):c.4402G>A (p.Glu1468Lys)
|
rs876657884
|
|
NM_000257.4(MYH7):c.4498C>T (p.Arg1500Trp)
|
rs45544633
|
|
NM_000257.4(MYH7):c.5134C>T (p.Arg1712Trp)
|
rs121913650
|
|
NM_000257.4(MYH7):c.596C>T (p.Ala199Val)
|
rs727504283
|
|
NM_000257.4(MYH7):c.611G>T (p.Arg204Leu)
|
rs397516260
|
|
NM_000257.4(MYH7):c.676G>A (p.Ala226Thr)
|
rs1057517773
|
|
NM_000257.4(MYH7):c.732+1G>A
|
rs730880850
|
|
NM_000257.4(MYH7):c.739T>C (p.Phe247Leu)
|
rs727503276
|
|
NM_000257.4(MYH7):c.741C>A (p.Phe247Leu)
|
rs1566537070
|
|
NM_000257.4(MYH7):c.746G>T (p.Arg249Leu)
|
rs3218713
|
|
NM_000257.4(MYH7):c.815G>C (p.Arg272Thr)
|
rs1555338578
|
|
NM_000257.4(MYH7):c.842G>C (p.Arg281Thr)
|
rs730880856
|
|
NM_000264.5(PTCH1):c.1068-1G>T
|
rs1085307752
|
|
NM_000264.5(PTCH1):c.1216-1G>A
|
rs1564051834
|
|
NM_000264.5(PTCH1):c.1348-1G>T
|
|
|
NM_000264.5(PTCH1):c.1462T>C (p.Cys488Arg)
|
rs1131690999
|
|
NM_000264.5(PTCH1):c.1503+2T>A
|
|
|
NM_000264.5(PTCH1):c.1511C>T (p.Pro504Leu)
|
|
|
NM_000264.5(PTCH1):c.201+1G>A
|
rs1131690967
|
|
NM_000264.5(PTCH1):c.2438_2446dup (p.Pro813_Ile815dup)
|
rs1588568813
|
|
NM_000264.5(PTCH1):c.2465T>C (p.Leu822Pro)
|
|
|
NM_000264.5(PTCH1):c.271G>C (p.Gly91Arg)
|
|
|
NM_000264.5(PTCH1):c.2789_2796delinsG (p.Asp930fs)
|
|
|
NM_000264.5(PTCH1):c.2887+2T>C
|
rs1839273008
|
|
NM_000264.5(PTCH1):c.3168+3G>C
|
|
|
NM_000264.5(PTCH1):c.3385G>C (p.Gly1129Arg)
|
rs1588528637
|
|
NM_000264.5(PTCH1):c.3398_3400del (p.Thr1133_Leu1134delinsMet)
|
|
|
NM_000264.5(PTCH1):c.3404T>C (p.Leu1135Pro)
|
rs1131690989
|
|
NM_000264.5(PTCH1):c.3440T>C (p.Phe1147Ser)
|
rs1131690990
|
|
NM_000264.5(PTCH1):c.3450-11T>A
|
|
|
NM_000264.5(PTCH1):c.3499G>A (p.Gly1167Arg)
|
rs1131690985
|
|
NM_000264.5(PTCH1):c.3549+1G>A
|
rs1838303542
|
|
NM_000264.5(PTCH1):c.385T>C (p.Trp129Arg)
|
rs2118873547
|
|
NM_000264.5(PTCH1):c.584G>C (p.Arg195Thr)
|
rs1554702009
|
|
NM_000264.5(PTCH1):c.945+5G>A
|
rs1588609575
|
|
NM_000267.3(NF1):c.2252delG
|
rs1597713259
|
|
NM_000268.4(NF2):c.12_22delinsTTCA (p.Ile5fs)
|
|
|
NM_000268.4(NF2):c.1447-1G>T
|
|
|
NM_000268.4(NF2):c.1550T>C (p.Leu517Pro)
|
rs1556002568
|
|
NM_000268.4(NF2):c.240+1G>C
|
rs587776562
|
|
NM_000268.4(NF2):c.240G>A (p.Lys80=)
|
rs1555986950
|
|
NM_000268.4(NF2):c.363+2T>C
|
rs2146873271
|
|
NM_000268.4(NF2):c.448-1G>T
|
|
|
NM_000268.4(NF2):c.516+1G>T
|
rs1601612044
|
|
NM_000268.4(NF2):c.599+1G>T
|
rs1555993352
|
|
NM_000268.4(NF2):c.810+1G>A
|
rs794728682
|
|
NM_000271.5(NPC1):c.3754+1del
|
rs1835896772
|
|
NM_000276.4(OCRL):c.1713+2T>G
|
|
|
NM_000282.4(PCCA):c.915-1G>C
|
rs367615795
|
|
NM_000284.4(PDHA1):c.214C>T (p.Arg72Cys)
|
rs863224148
|
|
NM_000284.4(PDHA1):c.499G>A (p.Val167Met)
|
rs2063174067
|
|
NM_000284.4(PDHA1):c.616G>C (p.Glu206Gln)
|
rs1555934336
|
|
NM_000297.4(PKD2):c.974G>A (p.Arg325Gln)
|
rs1727420867
|
|
NM_000303.3(PMM2):c.391C>G (p.Pro131Ala)
|
|
|
NM_000304.4(PMP22):c.320G>T (p.Gly107Val)
|
rs1597597900
|
|
NM_000304.4(PMP22):c.434del (p.Leu145fs)
|
rs863225029
|
|
NM_000314.4:c.(164+1_165-1)_(634+1_635-1)dup
|
|
|
NM_000314.4:c.545_546insALU
|
|
|
NM_000314.8(PTEN):c.1000_1003dup (p.Arg335fs)
|
|
|
NM_000314.8(PTEN):c.1004_1008del (p.Arg335fs)
|
|
|
NM_000314.8(PTEN):c.1026+1del
|
rs398123313
|
|
NM_000314.8(PTEN):c.1027-1852A>G
|
|
|
NM_000314.8(PTEN):c.1034T>C (p.Leu345Pro)
|
rs1554826024
|
|
NM_000314.8(PTEN):c.103A>G (p.Met35Val)
|
rs876659443
|
|
NM_000314.8(PTEN):c.104T>C (p.Met35Thr)
|
rs121909225
|
|
NM_000314.8(PTEN):c.106G>A (p.Gly36Arg)
|
rs786204854
|
|
NM_000314.8(PTEN):c.1103del (p.Asp368fs)
|
|
|
NM_000314.8(PTEN):c.1127_1128insAT (p.His376fs)
|
rs1554826052
|
|
NM_000314.8(PTEN):c.1137T>G (p.Tyr379Ter)
|
rs1295420243
|
|
NM_000314.8(PTEN):c.1211G>C (p.Ter404Ser)
|
|
|
NM_000314.8(PTEN):c.1212A>T (p.Ter404Cys)
|
rs876660879
|
|
NM_000314.8(PTEN):c.157GTA[1] (p.Val54del)
|
rs1554893831
|
|
NM_000314.8(PTEN):c.165-1G>C
|
rs786203847
|
|
NM_000314.8(PTEN):c.170T>C (p.Leu57Ser)
|
|
|
NM_000314.8(PTEN):c.182A>G (p.His61Arg)
|
rs398123316
|
|
NM_000314.8(PTEN):c.202T>C (p.Tyr68His)
|
rs398123317
|
|
NM_000314.8(PTEN):c.203A>C (p.Tyr68Ser)
|
rs876660634
|
|
NM_000314.8(PTEN):c.209+2047A>G
|
|
|
NM_000314.8(PTEN):c.209+2T>G
|
rs878853937
|
|
NM_000314.8(PTEN):c.209+4A>G
|
rs2132232446
|
|
NM_000314.8(PTEN):c.210-12C>G
|
|
|
NM_000314.8(PTEN):c.210-1G>C
|
rs1114167621
|
|
NM_000314.8(PTEN):c.210-1G>T
|
rs1114167621
|
|
NM_000314.8(PTEN):c.210-2A>C
|
rs1564828914
|
|
NM_000314.8(PTEN):c.210-2A>G
|
rs1564828914
|
|
NM_000314.8(PTEN):c.253+5_253+13del
|
|
|
NM_000314.8(PTEN):c.275A>C (p.Asp92Ala)
|
rs1114167623
|
|
NM_000314.8(PTEN):c.275A>G (p.Asp92Gly)
|
rs1114167623
|
|
NM_000314.8(PTEN):c.275A>T (p.Asp92Val)
|
|
|
NM_000314.8(PTEN):c.277C>T (p.His93Tyr)
|
rs786204927
|
|
NM_000314.8(PTEN):c.278A>G (p.His93Arg)
|
rs121909238
|
|
NM_000314.8(PTEN):c.283C>A (p.Pro95Thr)
|
rs1114167630
|
|
NM_000314.8(PTEN):c.283C>G (p.Pro95Ala)
|
|
|
NM_000314.8(PTEN):c.287C>T (p.Pro96Leu)
|
rs1554898074
|
|
NM_000314.8(PTEN):c.293T>G (p.Leu98Arg)
|
rs781647403
|
|
NM_000314.8(PTEN):c.302T>A (p.Ile101Asn)
|
rs1339631701
|
|
NM_000314.8(PTEN):c.313T>G (p.Cys105Gly)
|
|
|
NM_000314.8(PTEN):c.320A>G (p.Asp107Gly)
|
rs786204858
|
|
NM_000314.8(PTEN):c.323T>C (p.Leu108Pro)
|
rs1064793243
|
|
NM_000314.8(PTEN):c.334C>G (p.Leu112Val)
|
rs2132242699
|
|
NM_000314.8(PTEN):c.335T>A (p.Leu112Gln)
|
|
|
NM_000314.8(PTEN):c.353A>C (p.His118Pro)
|
|
|
NM_000314.8(PTEN):c.355G>C (p.Val119Leu)
|
rs139767111
|
|
NM_000314.8(PTEN):c.355G>T (p.Val119Phe)
|
rs139767111
|
|
NM_000314.8(PTEN):c.359C>A (p.Ala120Glu)
|
rs1114167647
|
|
NM_000314.8(PTEN):c.367C>G (p.His123Asp)
|
rs786204931
|
|
NM_000314.8(PTEN):c.370T>A (p.Cys124Ser)
|
rs121909223
|
|
NM_000314.8(PTEN):c.370T>G (p.Cys124Gly)
|
rs121909223
|
|
NM_000314.8(PTEN):c.371G>A (p.Cys124Tyr)
|
rs876660535
|
|
NM_000314.8(PTEN):c.371G>C (p.Cys124Ser)
|
|
|
NM_000314.8(PTEN):c.377C>T (p.Ala126Val)
|
rs1114167656
|
|
NM_000314.8(PTEN):c.379G>A (p.Gly127Arg)
|
rs587781255
|
|
NM_000314.8(PTEN):c.380G>A (p.Gly127Glu)
|
rs398123322
|
|
NM_000314.8(PTEN):c.382A>G (p.Lys128Glu)
|
rs1554898138
|
|
NM_000314.8(PTEN):c.384G>C (p.Lys128Asn)
|
rs1114167645
|
|
NM_000314.8(PTEN):c.389G>C (p.Arg130Pro)
|
rs121909229
|
|
NM_000314.8(PTEN):c.395G>A (p.Gly132Asp)
|
rs121909241
|
|
NM_000314.8(PTEN):c.395G>T (p.Gly132Val)
|
rs121909241
|
|
NM_000314.8(PTEN):c.39_41del (p.Arg15del)
|
rs1114167625
|
|
NM_000314.8(PTEN):c.402G>T (p.Met134Ile)
|
rs1114167676
|
|
NM_000314.8(PTEN):c.404T>A (p.Ile135Lys)
|
rs370795352
|
|
NM_000314.8(PTEN):c.405A>G (p.Ile135Met)
|
|
|
NM_000314.8(PTEN):c.408T>G (p.Cys136Trp)
|
rs869312776
|
|
NM_000314.8(PTEN):c.422A>C (p.His141Pro)
|
rs863224666
|
|
NM_000314.8(PTEN):c.45A>C (p.Arg15Ser)
|
rs1064794096
|
|
NM_000314.8(PTEN):c.463T>A (p.Tyr155Asn)
|
rs398123325
|
|
NM_000314.8(PTEN):c.46T>C (p.Tyr16His)
|
rs1064796078
|
|
NM_000314.8(PTEN):c.475A>G (p.Arg159Gly)
|
rs786202688
|
|
NM_000314.8(PTEN):c.476G>T (p.Arg159Met)
|
rs1114167673
|
|
NM_000314.8(PTEN):c.492+1G>A
|
rs1554898242
|
|
NM_000314.8(PTEN):c.492+1G>T
|
rs1554898242
|
|
NM_000314.8(PTEN):c.493-2A>C
|
rs587781784
|
|
NM_000314.8(PTEN):c.493-2A>T
|
rs587781784
|
|
NM_000314.8(PTEN):c.493G>A (p.Gly165Arg)
|
rs587782603
|
|
NM_000314.8(PTEN):c.497T>A (p.Val166Glu)
|
rs1554900515
|
|
NM_000314.8(PTEN):c.511C>G (p.Gln171Glu)
|
rs786204864
|
|
NM_000314.8(PTEN):c.512A>G (p.Gln171Arg)
|
rs786204865
|
|
NM_000314.8(PTEN):c.518G>C (p.Arg173Pro)
|
rs121913294
|
|
NM_000314.8(PTEN):c.518G>T (p.Arg173Leu)
|
rs121913294
|
|
NM_000314.8(PTEN):c.526TAT[2] (p.Tyr178del)
|
rs587780711
|
|
NM_000314.8(PTEN):c.529T>G (p.Tyr177Asp)
|
rs1860418425
|
|
NM_000314.8(PTEN):c.530A>G (p.Tyr177Cys)
|
rs1564837839
|
|
NM_000314.8(PTEN):c.584T>C (p.Phe195Ser)
|
|
|
NM_000314.8(PTEN):c.598T>G (p.Phe200Val)
|
rs587782473
|
|
NM_000314.8(PTEN):c.634+2_634+3insC
|
rs1554900673
|
|
NM_000314.8(PTEN):c.634+3_634+6del
|
rs1589659775
|
|
NM_000314.8(PTEN):c.634+5G>C
|
rs138336847
|
|
NM_000314.8(PTEN):c.635-1G>T
|
rs876661024
|
|
NM_000314.8(PTEN):c.635-3C>G
|
rs1085308056
|
|
NM_000314.8(PTEN):c.69_74del (p.22DL[1])
|
|
|
NM_000314.8(PTEN):c.70G>A (p.Asp24Asn)
|
rs786201995
|
|
NM_000314.8(PTEN):c.711_722del (p.Lys237_Phe241delinsAsn)
|
|
|
NM_000314.8(PTEN):c.723T>G (p.Phe241Leu)
|
rs17849090
|
|
NM_000314.8(PTEN):c.738_743del (p.Leu247_Pro248del)
|
rs1114167666
|
|
NM_000314.8(PTEN):c.752G>T (p.Gly251Val)
|
rs1554825226
|
|
NM_000314.8(PTEN):c.752_753delinsTG (p.Gly251Val)
|
rs1114167664
|
|
NM_000314.8(PTEN):c.755A>T (p.Asp252Val)
|
rs121909239
|
|
NM_000314.8(PTEN):c.761A>C (p.Lys254Thr)
|
rs1114167633
|
|
NM_000314.8(PTEN):c.764T>A (p.Val255Glu)
|
rs1564566998
|
|
NM_000314.8(PTEN):c.80-2A>C
|
rs2132187034
|
|
NM_000314.8(PTEN):c.80-5_82del
|
rs1589617114
|
|
NM_000314.8(PTEN):c.802-1G>A
|
rs1257124719
|
|
NM_000314.8(PTEN):c.80A>G (p.Tyr27Cys)
|
rs886041877
|
|
NM_000314.8(PTEN):c.815A>C (p.His272Pro)
|
rs1114167648
|
|
NM_000314.8(PTEN):c.830C>G (p.Thr277Arg)
|
rs398123329
|
|
NM_000314.8(PTEN):c.929A>G (p.Asp310Gly)
|
rs1564568473
|
|
NM_000314.8(PTEN):c.94ATT[1] (p.Ile33del)
|
rs1554893765
|
|
NM_000314.8(PTEN):c.959T>C (p.Leu320Ser)
|
rs1114167667
|
|
NM_000321.3(RB1):c.1049+1G>A
|
rs587776782
|
|
NM_000321.3(RB1):c.1049+1G>T
|
rs587776782
|
|
NM_000321.3(RB1):c.138-1G>A
|
rs1593414337
|
|
NM_000321.3(RB1):c.1389+4A>C
|
rs1131690879
|
|
NM_000321.3(RB1):c.1421+1G>C
|
rs1131690886
|
|
NM_000321.3(RB1):c.1421G>T (p.Ser474Ile)
|
rs1555286575
|
|
NM_000321.3(RB1):c.1466G>A (p.Cys489Tyr)
|
rs1131690877
|
|
NM_000321.3(RB1):c.1498+1G>A
|
rs1131690909
|
|
NM_000321.3(RB1):c.1498+2T>G
|
rs1948523741
|
|
NM_000321.3(RB1):c.1696-2A>G
|
rs1593529868
|
|
NM_000321.3(RB1):c.2107-1G>A
|
rs587778860
|
|
NM_000321.3(RB1):c.2134T>C (p.Cys712Arg)
|
rs137853296
|
|
NM_000321.3(RB1):c.2143A>T (p.Lys715Ter)
|
|
|
NM_000321.3(RB1):c.2325+1G>C
|
rs1131690882
|
|
NM_000321.3(RB1):c.2489G>A (p.Arg830Lys)
|
|
|
NM_000321.3(RB1):c.2490-28T>G
|
|
|
NM_000321.3(RB1):c.2520+5G>A
|
rs1131690881
|
|
NM_000321.3(RB1):c.380G>A (p.Ser127Asn)
|
rs1131690843
|
|
NM_000321.3(RB1):c.380G>C (p.Ser127Thr)
|
rs1131690843
|
|
NM_000321.3(RB1):c.539+1G>A
|
rs1566187856
|
|
NM_000321.3(RB1):c.607+2dup
|
rs1131690895
|
|
NM_000321.3(RB1):c.857A>G (p.Asp286Gly)
|
rs1131690864
|
|
NM_000321.3(RB1):c.861+2T>C
|
|
|
NM_000325.6(PITX2):c.344G>A (p.Arg115His)
|
rs104893862
|
|
NM_000325.6(PITX2):c.431G>C (p.Arg144Pro)
|
rs104893859
|
|
NM_000335.5(SCN5A):c.2023+1G>A
|
rs1553703211
|
|
NM_000335.5(SCN5A):c.2632C>T (p.Arg878Cys)
|
rs199473168
|
|
NM_000335.5(SCN5A):c.2729C>T (p.Ser910Leu)
|
rs199473175
|
|
NM_000335.5(SCN5A):c.2788-2del
|
|
|
NM_000335.5(SCN5A):c.3509-1G>C
|
rs1553698563
|
|
NM_000335.5(SCN5A):c.361C>T (p.Arg121Trp)
|
rs199473556
|
|
NM_000335.5(SCN5A):c.3960+1G>A
|
rs483353016
|
|
NM_000335.5(SCN5A):c.3971A>G (p.Asn1324Ser)
|
rs28937317
|
|
NM_000335.5(SCN5A):c.4134CAA[1] (p.Asn1379del)
|
rs794728922
|
|
NM_000335.5(SCN5A):c.4242+1G>T
|
rs794728879
|
|
NM_000335.5(SCN5A):c.4243-2del
|
rs794728943
|
|
NM_000335.5(SCN5A):c.4296+1G>A
|
|
|
NM_000335.5(SCN5A):c.4296+1G>T
|
rs2061175467
|
|
NM_000335.5(SCN5A):c.4296+1del
|
rs1450434935
|
|
NM_000335.5(SCN5A):c.4318G>C (p.Glu1440Gln)
|
rs199473249
|
|
NM_000335.5(SCN5A):c.4490T>C (p.Met1497Thr)
|
rs199473263
|
|
NM_000335.5(SCN5A):c.4504T>C (p.Ser1502Pro)
|
rs199473342
|
|
NM_000335.5(SCN5A):c.4717G>A (p.Glu1573Lys)
|
rs199473620
|
|
NM_000335.5(SCN5A):c.482+1G>C
|
|
|
NM_000335.5(SCN5A):c.4844TCT[1] (p.Phe1616del)
|
rs749697698
|
|
NM_000335.5(SCN5A):c.4892G>T (p.Arg1631Leu)
|
|
|
NM_000335.5(SCN5A):c.4996G>A (p.Val1666Ile)
|
rs199473293
|
|
NM_000335.5(SCN5A):c.5414_5417del (p.Thr1805fs)
|
rs1060501127
|
|
NM_000335.5(SCN5A):c.5461_5464del (p.Glu1822fs)
|
rs794728924
|
|
NM_000335.5(SCN5A):c.94C>T (p.Gln32Ter)
|
|
|
NM_000335.5(SCN5A):c.998+1G>T
|
|
|
NM_000346.4(SOX9):c.247G>C (p.Gly83Arg)
|
rs1908097162
|
|
NM_000346.4(SOX9):c.494A>G (p.His165Arg)
|
rs1908142392
|
|
NM_000346.4(SOX9):c.507C>G (p.His169Gln)
|
rs2229989
|
|
NM_000363.5(TNNI3):c.407G>A (p.Arg136Gln)
|
rs730881069
|
|
NM_000363.5(TNNI3):c.470C>T (p.Ala157Val)
|
rs397516353
|
|
NM_000363.5(TNNI3):c.485G>C (p.Arg162Pro)
|
rs397516354
|
|
NM_000363.5(TNNI3):c.509G>A (p.Arg170Gln)
|
rs727503503
|
|
NM_000363.5(TNNI3):c.595A>T (p.Ser199Cys)
|
rs2085696801
|
|
NM_000363.5(TNNI3):c.596G>A (p.Ser199Asn)
|
rs730881091
|
|
NM_000368.5(TSC1):c.1029+3A>G
|
rs1554817334
|
|
NM_000368.5(TSC1):c.1263+37C>T
|
|
|
NM_000368.5(TSC1):c.1997+2T>G
|
rs2131806725
|
|
NM_000368.5(TSC1):c.210+1G>C
|
|
|
NM_000368.5(TSC1):c.2626-2A>C
|
rs118203717
|
|
NM_000368.5(TSC1):c.2813+1G>C
|
|
|
NM_000368.5(TSC1):c.35_69del (p.Ala12fs)
|
|
|
NM_000368.5(TSC1):c.363G>T (p.Lys121Asn)
|
rs118203370
|
|
NM_000368.5(TSC1):c.508G>A (p.Gly170Ser)
|
|
|
NM_000368.5(TSC1):c.659T>A (p.Val220Asp)
|
|
|
NM_000368.5(TSC1):c.737+1G>T
|
rs118203438
|
|
NM_000368.5(TSC1):c.737+2T>C
|
rs1564497308
|
|
NM_000368.5(TSC1):c.913+2T>C
|
|
|
NM_000368.5(TSC1):c.913G>A (p.Gly305Arg)
|
rs118203468
|
|
NM_000371.4(TTR):c.116C>A (p.Ala39Asp)
|
rs11541795
|
|
NM_000371.4(TTR):c.128G>A (p.Ser43Asn)
|
rs1598844112
|
|
NM_000371.4(TTR):c.133G>T (p.Ala45Ser)
|
|
|
NM_000371.4(TTR):c.155T>C (p.Val52Ala)
|
rs2073493951
|
|
NM_000371.4(TTR):c.172G>C (p.Asp58His)
|
rs2073494217
|
|
NM_000371.4(TTR):c.179C>A (p.Thr60Asn)
|
rs113625622
|
|
NM_000371.4(TTR):c.191T>C (p.Phe64Ser)
|
rs104894665
|
|
NM_000371.4(TTR):c.194C>T (p.Ala65Val)
|
rs730881169
|
|
NM_000371.4(TTR):c.220G>C (p.Glu74Gln)
|
rs1555631393
|
|
NM_000371.4(TTR):c.220_221delinsCT (p.Glu74Leu)
|
|
|
NM_000371.4(TTR):c.220_221inv (p.Glu74Ser)
|
|
|
NM_000371.4(TTR):c.241G>A (p.Glu81Lys)
|
rs121918086
|
|
NM_000371.4(TTR):c.242A>C (p.Glu81Ala)
|
|
|
NM_000371.4(TTR):c.242A>G (p.Glu81Gly)
|
rs1567946170
|
|
NM_000371.4(TTR):c.244G>A (p.Glu82Lys)
|
rs1555631402
|
|
NM_000371.4(TTR):c.265T>C (p.Tyr89His)
|
rs121918100
|
|
NM_000371.4(TTR):c.302C>T (p.Ala101Val)
|
rs1555631417
|
|
NM_000371.4(TTR):c.311T>C (p.Ile104Thr)
|
rs121918072
|
|
NM_000371.4(TTR):c.326A>T (p.Glu109Val)
|
rs2073511444
|
|
NM_000371.4(TTR):c.381T>G (p.Ile127Met)
|
rs751430411
|
|
NM_000371.4(TTR):c.391C>A (p.Leu131Met)
|
rs121918073
|
|
NM_000371.4(TTR):c.401A>G (p.Tyr134Cys)
|
rs121918075
|
|
NM_000371.4(TTR):c.418G>T (p.Ala140Ser)
|
rs876658108
|
|
NM_000381.4(MID1):c.1342T>C (p.Tyr448His)
|
rs1569270016
|
|
NM_000384.3(APOB):c.3491G>C (p.Arg1164Thr)
|
|
|
NM_000388.4(CASR):c.1608+1G>A
|
|
|
NM_000388.4(CASR):c.197G>A (p.Arg66His)
|
rs1276839362
|
|
NM_000388.4(CASR):c.1A>C (p.Met1Leu)
|
|
|
NM_000388.4(CASR):c.2299G>A (p.Glu767Lys)
|
rs2074935748
|
|
NM_000388.4(CASR):c.2531C>T (p.Ala844Val)
|
rs2074940195
|
|
NM_000388.4(CASR):c.379G>A (p.Glu127Lys)
|
rs2074565202
|
|
NM_000388.4(CASR):c.649G>T (p.Asp217Tyr)
|
rs201091657
|
|
NM_000391.4(TPP1):c.1015C>T (p.Arg339Trp)
|
rs750428882
|
|
NM_000391.4(TPP1):c.17+2T>A
|
|
|
NM_000404.4(GLB1):c.319T>C (p.Phe107Leu)
|
rs397515616
|
|
NM_000414.4(HSD17B4):c.67C>T (p.Arg23Ter)
|
rs765702241
|
|
NM_000430.4(PAFAH1B1):c.163T>A (p.Trp55Arg)
|
rs587784254
|
|
NM_000430.4(PAFAH1B1):c.569-10T>C
|
rs113994202
|
|
NM_000432.4(MYL2):c.52T>C (p.Phe18Leu)
|
rs104894370
|
|
NM_000432.4(MYL2):c.64G>A (p.Glu22Lys)
|
rs104894368
|
|
NM_000455.5(STK11):c.151_162del (p.Met51_Leu54del)
|
rs1131690916
|
|
NM_000455.5(STK11):c.155_157del (p.Gly52del)
|
rs1131690917
|
|
NM_000455.5(STK11):c.159_170del (p.Asp53_Gly56del)
|
rs1131690953
|
|
NM_000455.5(STK11):c.200T>C (p.Leu67Pro)
|
rs137853077
|
|
NM_000455.5(STK11):c.290+2T>A
|
|
|
NM_000455.5(STK11):c.290+2_290+4del
|
rs1568690546
|
|
NM_000455.5(STK11):c.375-7_375-6del
|
rs2080765043
|
|
NM_000455.5(STK11):c.460C>G (p.His154Asp)
|
rs878853988
|
|
NM_000455.5(STK11):c.464+1G>C
|
|
|
NM_000455.5(STK11):c.465-21_465del
|
|
|
NM_000455.5(STK11):c.465-2A>C
|
rs1131690931
|
|
NM_000455.5(STK11):c.487G>C (p.Gly163Arg)
|
rs730881972
|
|
NM_000455.5(STK11):c.536C>A (p.Pro179Gln)
|
|
|
NM_000455.5(STK11):c.541_543delinsGAA (p.Asn181Glu)
|
rs1568707668
|
|
NM_000455.5(STK11):c.582C>A (p.Asp194Glu)
|
rs786202134
|
|
NM_000455.5(STK11):c.586G>C (p.Gly196Arg)
|
|
|
NM_000455.5(STK11):c.597+1G>T
|
rs886039554
|
|
NM_000455.5(STK11):c.709G>C (p.Asp237His)
|
rs878853247
|
|
NM_000455.5(STK11):c.711C>A (p.Asp237Glu)
|
rs1057520379
|
|
NM_000455.5(STK11):c.719C>G (p.Ser240Trp)
|
rs730881976
|
|
NM_000455.5(STK11):c.725G>A (p.Gly242Glu)
|
rs1568708382
|
|
NM_000455.5(STK11):c.734+2T>C
|
rs1131690941
|
|
NM_000455.5(STK11):c.734_734+2dup
|
|
|
NM_000455.5(STK11):c.737ACA[1] (p.Asn247del)
|
|
|
NM_000455.5(STK11):c.854T>C (p.Leu285Pro)
|
rs1555738724
|
|
NM_000455.5(STK11):c.863-2A>G
|
rs1131690944
|
|
NM_000455.5(STK11):c.890_907del (p.Arg297_Gln302del)
|
rs1131690935
|
|
NM_000455.5(STK11):c.914A>C (p.Gln305Pro)
|
|
|
NM_000455.5(STK11):c.920+2_920+31del
|
|
|
NM_000458.4(HNF1B):c.544+3_544+6del
|
|
|
NM_000463.3(UGT1A1):c.1007G>T (p.Arg336Leu)
|
|
|
NM_000465.2:c.1764_1765insALU
|
|
|
NM_000465.2:c.1776_1777insL1
|
|
|
NM_000465.4(BARD1):c.1306_1314+7del
|
rs1694934695
|
|
NM_000465.4(BARD1):c.1314+1G>A
|
rs753785671
|
|
NM_000465.4(BARD1):c.133G>T (p.Glu45Ter)
|
|
|
NM_000465.4(BARD1):c.1395+1dup
|
rs1553619688
|
|
NM_000465.4(BARD1):c.1396-1G>A
|
rs2106077292
|
|
NM_000465.4(BARD1):c.1568+1G>T
|
|
|
NM_000465.4(BARD1):c.1568+2T>C
|
rs1553619196
|
|
NM_000465.4(BARD1):c.1568+2dup
|
|
|
NM_000465.4(BARD1):c.1569-1G>A
|
rs1574756672
|
|
NM_000465.4(BARD1):c.1569-2A>G
|
rs1693509336
|
|
NM_000465.4(BARD1):c.158+1G>C
|
rs1553628351
|
|
NM_000465.4(BARD1):c.159-1G>T
|
rs879254139
|
|
NM_000465.4(BARD1):c.1676_1677+2del
|
|
|
NM_000465.4(BARD1):c.1677+1G>A
|
|
|
NM_000465.4(BARD1):c.1677+2T>A
|
|
|
NM_000465.4(BARD1):c.1678-1_1678del
|
rs1553615184
|
|
NM_000465.4(BARD1):c.1678-2A>G
|
rs1693089850
|
|
NM_000465.4(BARD1):c.1678-3C>G
|
rs1693089932
|
|
NM_000465.4(BARD1):c.1810+1G>A
|
rs876659894
|
|
NM_000465.4(BARD1):c.1810+2T>G
|
rs1234033325
|
|
NM_000465.4(BARD1):c.1903+1G>A
|
rs876660237
|
|
NM_000465.4(BARD1):c.1903+1G>T
|
rs876660237
|
|
NM_000465.4(BARD1):c.1903+2T>A
|
rs1574737047
|
|
NM_000465.4(BARD1):c.1904-2A>T
|
rs864622239
|
|
NM_000465.4(BARD1):c.1904-2del
|
rs876659560
|
|
NM_000465.4(BARD1):c.1934_2001+52del
|
rs1574706516
|
|
NM_000465.4(BARD1):c.1961del (p.Pro654fs)
|
|
|
NM_000465.4(BARD1):c.2001+1G>C
|
rs768490891
|
|
NM_000465.4(BARD1):c.2001+2T>C
|
|
|
NM_000465.4(BARD1):c.2002-15_2003del
|
|
|
NM_000465.4(BARD1):c.2020G>T (p.Gly674Ter)
|
rs1328046615
|
|
NM_000465.4(BARD1):c.2038_2042del (p.Trp680fs)
|
rs1553612222
|
|
NM_000465.4(BARD1):c.2065dup (p.Asp689fs)
|
|
|
NM_000465.4(BARD1):c.2099dup (p.Gln701fs)
|
|
|
NM_000465.4(BARD1):c.2101C>T (p.Gln701Ter)
|
rs587782348
|
|
NM_000465.4(BARD1):c.2116A>T (p.Lys706Ter)
|
|
|
NM_000465.4(BARD1):c.2129_2132del (p.Asp710fs)
|
rs1692216921
|
|
NM_000465.4(BARD1):c.2144dup (p.Thr716fs)
|
rs1574703115
|
|
NM_000465.4(BARD1):c.215+1G>A
|
rs2106145519
|
|
NM_000465.4(BARD1):c.215+2T>C
|
rs1559441760
|
|
NM_000465.4(BARD1):c.215+5_215+8del
|
rs876658777
|
|
NM_000465.4(BARD1):c.216-1G>A
|
rs876658905
|
|
NM_000465.4(BARD1):c.2166C>G (p.Tyr722Ter)
|
|
|
NM_000465.4(BARD1):c.2188C>T (p.Gln730Ter)
|
|
|
NM_000465.4(BARD1):c.2208T>A (p.Tyr736Ter)
|
rs2105986813
|
|
NM_000465.4(BARD1):c.2215dup (p.Tyr739fs)
|
|
|
NM_000465.4(BARD1):c.2229dup (p.Asn744Ter)
|
rs1259296823
|
|
NM_000465.4(BARD1):c.2261_2262del (p.Lys754fs)
|
rs1574702099
|
|
NM_000465.4(BARD1):c.2267G>A (p.Trp756Ter)
|
rs1358155595
|
|
NM_000465.4(BARD1):c.2268G>A (p.Trp756Ter)
|
rs786202118
|
|
NM_000465.4(BARD1):c.2291_2294del (p.Ile764fs)
|
|
|
NM_000465.4(BARD1):c.2300_2301del (p.Val767fs)
|
rs750413473
|
|
NM_000465.4(BARD1):c.2301_2303delinsACATC (p.Met768fs)
|
|
|
NM_000465.4(BARD1):c.364+1G>A
|
rs2106134408
|
|
NM_000465.4(BARD1):c.365-1G>T
|
rs1559426428
|
|
NM_000478.6(ALPL):c.976G>C (p.Gly326Arg)
|
rs1644687066
|
|
NM_000481.4(AMT):c.695_696+21del
|
rs1553638457
|
|
NM_000489.6(ATRX):c.4957-3A>G
|
|
|
NM_000489.6(ATRX):c.5271G>C (p.Glu1757Asp)
|
rs141240580
|
|
NM_000489.6(ATRX):c.6149T>C (p.Ile2050Thr)
|
rs122445110
|
|
NM_000489.6(ATRX):c.6406G>A (p.Asp2136Asn)
|
rs2064896365
|
|
NM_000489.6(ATRX):c.737G>T (p.Arg246Leu)
|
rs1603226766
|
|
NM_000489.6(ATRX):c.740A>G (p.Asn247Ser)
|
rs797044865
|
|
NM_000492.3(CFTR):c.2909_2924dup
|
|
|
NM_000492.4(CFTR):c.100_117del (p.Leu34_Gln39del)
|
rs397508141
|
|
NM_000492.4(CFTR):c.1052C>T (p.Thr351Ile)
|
rs1800086
|
|
NM_000492.4(CFTR):c.1075C>A (p.Gln359Lys)
|
rs76879328
|
|
NM_000492.4(CFTR):c.1079C>A (p.Thr360Lys)
|
rs75053309
|
|
NM_000492.4(CFTR):c.1209+1G>T
|
rs397508176
|
|
NM_000492.4(CFTR):c.1210-2_1210-1del
|
rs1562894926
|
|
NM_000492.4(CFTR):c.1364C>T (p.Ala455Val)
|
rs74551128
|
|
NM_000492.4(CFTR):c.1367T>C (p.Val456Ala)
|
rs193922500
|
|
NM_000492.4(CFTR):c.1392+1G>A
|
rs397508197
|
|
NM_000492.4(CFTR):c.1397C>T (p.Ser466Leu)
|
rs121908805
|
|
NM_000492.4(CFTR):c.1420G>A (p.Glu474Lys)
|
rs756206533
|
|
NM_000492.4(CFTR):c.1538A>G (p.Asp513Gly)
|
rs397508225
|
|
NM_000492.4(CFTR):c.1546A>G (p.Arg516Gly)
|
rs397508226
|
|
NM_000492.4(CFTR):c.1571G>A (p.Cys524Tyr)
|
rs1554384440
|
|
NM_000492.4(CFTR):c.1585-2A>G
|
rs397508233
|
|
NM_000492.4(CFTR):c.1585-2A>T
|
rs397508233
|
|
NM_000492.4(CFTR):c.164+1G>T
|
rs397508243
|
|
NM_000492.4(CFTR):c.164+2T>A
|
rs121908800
|
|
NM_000492.4(CFTR):c.1766+2T>A
|
rs1554389062
|
|
NM_000492.4(CFTR):c.1860T>G (p.His620Gln)
|
rs397508315
|
|
NM_000492.4(CFTR):c.2620-2A>G
|
rs1554390859
|
|
NM_000492.4(CFTR):c.273+3A>C
|
rs74467662
|
|
NM_000492.4(CFTR):c.2856G>A (p.Met952Ile)
|
rs151048781
|
|
NM_000492.4(CFTR):c.2908+1G>A
|
rs1060503164
|
|
NM_000492.4(CFTR):c.2936A>T (p.Asp979Val)
|
rs397508462
|
|
NM_000492.4(CFTR):c.3000_3014del (p.Val1001_Ile1005del)
|
|
|
NM_000492.4(CFTR):c.305T>G (p.Leu102Arg)
|
rs397508490
|
|
NM_000492.4(CFTR):c.3068T>G (p.Ile1023Arg)
|
rs756219310
|
|
NM_000492.4(CFTR):c.3107C>T (p.Thr1036Ile)
|
rs397508498
|
|
NM_000492.4(CFTR):c.3140-1G>A
|
rs397508506
|
|
NM_000492.4(CFTR):c.329A>T (p.Asp110Val)
|
|
|
NM_000492.4(CFTR):c.3367+1G>A
|
rs1470125842
|
|
NM_000492.4(CFTR):c.346G>A (p.Glu116Lys)
|
rs397508571
|
|
NM_000492.4(CFTR):c.350G>C (p.Arg117Pro)
|
rs78655421
|
|
NM_000492.4(CFTR):c.3739G>A (p.Gly1247Arg)
|
rs397508601
|
|
NM_000492.4(CFTR):c.3846G>C (p.Trp1282Cys)
|
rs77010898
|
|
NM_000492.4(CFTR):c.3963+1G>C
|
rs672601314
|
|
NM_000492.4(CFTR):c.3963+1G>T
|
|
|
NM_000492.4(CFTR):c.416A>T (p.His139Leu)
|
rs76371115
|
|
NM_000492.4(CFTR):c.4242+2T>C
|
rs193922526
|
|
NM_000492.4(CFTR):c.4339del (p.Arg1446_Val1447insTer)
|
rs1554397772
|
|
NM_000492.4(CFTR):c.490-1G>C
|
|
|
NM_000492.4(CFTR):c.494T>C (p.Leu165Ser)
|
rs397508736
|
|
NM_000492.4(CFTR):c.53+2T>C
|
|
|
NM_000492.4(CFTR):c.567C>A (p.Asn189Lys)
|
rs397508755
|
|
NM_000492.4(CFTR):c.580G>A (p.Gly194Arg)
|
rs376008630
|
|
NM_000492.4(CFTR):c.79G>A (p.Gly27Arg)
|
rs397508796
|
|
NM_000492.4(CFTR):c.869+1G>C
|
rs1330431481
|
|
NM_000492.4(CFTR):c.869+3A>T
|
rs1554380828
|
|
NM_000492.4(CFTR):c.870-1113_870-1110del
|
rs397508809
|
|
NM_000496.3(CRYBB2):c.229G>A (p.Gly77Ser)
|
rs1935449238
|
|
NM_000501.4(ELN):c.1357+1G>T
|
rs1554680190
|
|
NM_000512.5(GALNS):c.239C>T (p.Ser80Leu)
|
rs1209154325
|
|
NM_000516.7(GNAS):c.163A>G (p.Thr55Ala)
|
rs797044895
|
|
NM_000516.7(GNAS):c.742G>A (p.Val248Met)
|
rs1555891562
|
|
NM_000516.7(GNAS):c.793C>T (p.Arg265Cys)
|
rs1555891595
|
|
NM_000520.6(HEXA):c.1559G>A (p.Gly520Asp)
|
|
|
NM_000521.4(HEXB):c.1057G>C (p.Gly353Arg)
|
rs1749652995
|
|
NM_000527.4(LDLR):c.-135C>G
|
|
|
NM_000527.4(LDLR):c.-152C>T
|
|
|
NM_000527.4(LDLR):c.-156C>T
|
rs879254364
|
|
NM_000527.5(LDLR):c.1004G>T (p.Gly335Val)
|
rs869320650
|
|
NM_000527.5(LDLR):c.1028G>A (p.Gly343Asp)
|
rs879254760
|
|
NM_000527.5(LDLR):c.1049G>C (p.Arg350Pro)
|
rs875989914
|
|
NM_000527.5(LDLR):c.1054T>A (p.Cys352Ser)
|
rs879254769
|
|
NM_000527.5(LDLR):c.1061A>G (p.Asp354Gly)
|
rs755449669
|
|
NM_000527.5(LDLR):c.1066G>T (p.Asp356Tyr)
|
rs767767730
|
|
NM_000527.5(LDLR):c.1069G>A (p.Glu357Lys)
|
rs879254781
|
|
NM_000527.5(LDLR):c.1072T>G (p.Cys358Gly)
|
|
|
NM_000527.5(LDLR):c.1073G>A (p.Cys358Tyr)
|
rs875989915
|
|
NM_000527.5(LDLR):c.1090T>G (p.Cys364Gly)
|
|
|
NM_000527.5(LDLR):c.1145G>T (p.Gly382Val)
|
rs752951310
|
|
NM_000527.5(LDLR):c.1174T>A (p.Cys392Ser)
|
|
|
NM_000527.5(LDLR):c.1201C>G (p.Leu401Val)
|
|
|
NM_000527.5(LDLR):c.1208T>C (p.Phe403Ser)
|
|
|
NM_000527.5(LDLR):c.1223A>T (p.Glu408Val)
|
rs879254838
|
|
NM_000527.5(LDLR):c.1277T>G (p.Leu426Arg)
|
rs879254851
|
|
NM_000527.5(LDLR):c.1284C>G (p.Asn428Lys)
|
rs368708058
|
|
NM_000527.5(LDLR):c.1300A>C (p.Thr434Pro)
|
rs1555805237
|
|
NM_000527.5(LDLR):c.1304_1307delinsTGGC (p.Glu435_Val436delinsValAla)
|
|
|
NM_000527.5(LDLR):c.1307T>A (p.Val436Glu)
|
rs779732323
|
|
NM_000527.5(LDLR):c.1324T>C (p.Tyr442His)
|
rs879254863
|
|
NM_000527.5(LDLR):c.1325A>G (p.Tyr442Cys)
|
rs879254864
|
|
NM_000527.5(LDLR):c.1359-31_1359-23delinsCGGCT
|
rs879254876
|
|
NM_000527.5(LDLR):c.1432G>A (p.Gly478Arg)
|
|
|
NM_000527.5(LDLR):c.1432G>T (p.Gly478Trp)
|
rs144614838
|
|
NM_000527.5(LDLR):c.1470G>C (p.Trp490Cys)
|
rs879254915
|
|
NM_000527.5(LDLR):c.1502C>A (p.Ala501Glu)
|
rs755667663
|
|
NM_000527.5(LDLR):c.1525A>G (p.Lys509Glu)
|
rs879254931
|
|
NM_000527.5(LDLR):c.1586+5G>A
|
rs781362878
|
|
NM_000527.5(LDLR):c.1693G>C (p.Gly565Arg)
|
|
|
NM_000527.5(LDLR):c.1694G>C (p.Gly565Ala)
|
rs28942082
|
|
NM_000527.5(LDLR):c.1702C>G (p.Leu568Val)
|
rs746959386
|
|
NM_000527.5(LDLR):c.1724T>C (p.Leu575Pro)
|
rs1249568272
|
|
NM_000527.5(LDLR):c.1739C>T (p.Ser580Phe)
|
rs934496989
|
|
NM_000527.5(LDLR):c.1775G>T (p.Gly592Val)
|
|
|
NM_000527.5(LDLR):c.1796T>C (p.Leu599Ser)
|
rs879255025
|
|
NM_000527.5(LDLR):c.1829C>T (p.Ser610Phe)
|
rs879255038
|
|
NM_000527.5(LDLR):c.1833G>T (p.Leu611Phe)
|
rs879255041
|
|
NM_000527.5(LDLR):c.1853T>G (p.Val618Gly)
|
rs1057519677
|
|
NM_000527.5(LDLR):c.188G>A (p.Cys63Tyr)
|
rs879254427
|
|
NM_000527.5(LDLR):c.1916T>A (p.Val639Asp)
|
rs794728584
|
|
NM_000527.5(LDLR):c.1987+2T>G
|
rs1600742966
|
|
NM_000527.5(LDLR):c.1988-2A>G
|
rs879255101
|
|
NM_000527.5(LDLR):c.2023G>A (p.Gly675Ser)
|
rs770744861
|
|
NM_000527.5(LDLR):c.2042G>A (p.Cys681Tyr)
|
rs201637900
|
|
NM_000527.5(LDLR):c.2086T>A (p.Cys696Ser)
|
|
|
NM_000527.5(LDLR):c.2086T>G (p.Cys696Gly)
|
|
|
NM_000527.5(LDLR):c.2096C>T (p.Pro699Leu)
|
|
|
NM_000527.5(LDLR):c.224G>A (p.Cys75Tyr)
|
rs875989890
|
|
NM_000527.5(LDLR):c.2312-2A>C
|
|
|
NM_000527.5(LDLR):c.2389G>C (p.Val797Leu)
|
rs750518671
|
|
NM_000527.5(LDLR):c.2396T>G (p.Leu799Arg)
|
rs879255196
|
|
NM_000527.5(LDLR):c.2412G>A (p.Leu804=)
|
rs2077686564
|
|
NM_000527.5(LDLR):c.241C>T (p.Arg81Cys)
|
|
|
NM_000527.5(LDLR):c.245G>A (p.Cys82Tyr)
|
rs879254448
|
|
NM_000527.5(LDLR):c.246C>G (p.Cys82Trp)
|
|
|
NM_000527.5(LDLR):c.2473_2475del (p.Asn825del)
|
|
|
NM_000527.5(LDLR):c.2476C>A (p.Pro826Thr)
|
rs879255217
|
|
NM_000527.5(LDLR):c.2483A>G (p.Tyr828Cys)
|
|
|
NM_000527.5(LDLR):c.257_265del (p.Phe86_Arg88del)
|
rs879254451
|
|
NM_000527.5(LDLR):c.28T>C (p.Trp10Arg)
|
|
|
NM_000527.5(LDLR):c.298G>A (p.Asp100Asn)
|
rs879254459
|
|
NM_000527.5(LDLR):c.302A>C (p.Glu101Ala)
|
|
|
NM_000527.5(LDLR):c.302A>G (p.Glu101Gly)
|
rs2077233012
|
|
NM_000527.5(LDLR):c.313+4_313+16del
|
rs1555802822
|
|
NM_000527.5(LDLR):c.313+5G>A
|
|
|
NM_000527.5(LDLR):c.313+6T>G
|
rs879254468
|
|
NM_000527.5(LDLR):c.326G>A (p.Cys109Tyr)
|
rs121908042
|
|
NM_000527.5(LDLR):c.361T>C (p.Cys121Arg)
|
rs879254492
|
|
NM_000527.5(LDLR):c.362G>A (p.Cys121Tyr)
|
rs193922571
|
|
NM_000527.5(LDLR):c.440C>T (p.Thr147Ile)
|
rs879254524
|
|
NM_000527.5(LDLR):c.463T>C (p.Cys155Arg)
|
rs879254535
|
|
NM_000527.5(LDLR):c.464G>T (p.Cys155Phe)
|
rs879254536
|
|
NM_000527.5(LDLR):c.479G>T (p.Cys160Phe)
|
rs879254541
|
|
NM_000527.5(LDLR):c.515A>C (p.Asp172Ala)
|
|
|
NM_000527.5(LDLR):c.515A>G (p.Asp172Gly)
|
rs879254555
|
|
NM_000527.5(LDLR):c.516C>G (p.Asp172Glu)
|
rs879254557
|
|
NM_000527.5(LDLR):c.530C>G (p.Ser177Trp)
|
|
|
NM_000527.5(LDLR):c.533A>G (p.Asp178Gly)
|
rs875989902
|
|
NM_000527.5(LDLR):c.534T>G (p.Asp178Glu)
|
rs879254566
|
|
NM_000527.5(LDLR):c.611G>T (p.Cys204Phe)
|
rs879254592
|
|
NM_000527.5(LDLR):c.622G>A (p.Glu208Lys)
|
rs879254597
|
|
NM_000527.5(LDLR):c.646T>C (p.Cys216Arg)
|
rs879254610
|
|
NM_000527.5(LDLR):c.647G>A (p.Cys216Tyr)
|
rs879254611
|
|
NM_000527.5(LDLR):c.661G>A (p.Asp221Asn)
|
rs875989906
|
|
NM_000527.5(LDLR):c.665_679dup (p.Ser226_Asp227insGlyLysAspLysSer)
|
|
|
NM_000527.5(LDLR):c.670G>C (p.Asp224His)
|
|
|
NM_000527.5(LDLR):c.677C>T (p.Ser226Phe)
|
|
|
NM_000527.5(LDLR):c.683_694del (p.Glu228_Cys231del)
|
rs1064792905
|
|
NM_000527.5(LDLR):c.781T>A (p.Cys261Ser)
|
rs1372739823
|
|
NM_000527.5(LDLR):c.797A>G (p.Asp266Gly)
|
rs879254678
|
|
NM_000527.5(LDLR):c.827G>A (p.Cys276Tyr)
|
rs730882089
|
|
NM_000527.5(LDLR):c.851G>A (p.Cys284Tyr)
|
|
|
NM_000527.5(LDLR):c.851G>T (p.Cys284Phe)
|
rs879254694
|
|
NM_000527.5(LDLR):c.865T>C (p.Cys289Arg)
|
rs879254697
|
|
NM_000527.5(LDLR):c.887G>A (p.Cys296Tyr)
|
rs879254707
|
|
NM_000527.5(LDLR):c.888C>G (p.Cys296Trp)
|
|
|
NM_000527.5(LDLR):c.910G>C (p.Asp304His)
|
rs121908030
|
|
NM_000527.5(LDLR):c.937T>G (p.Cys313Gly)
|
rs879254728
|
|
NM_000527.5(LDLR):c.939C>G (p.Cys313Trp)
|
rs13306512
|
|
NM_000527.5(LDLR):c.953G>A (p.Cys318Tyr)
|
rs879254739
|
|
NM_000527.5(LDLR):c.974G>C (p.Cys325Ser)
|
rs879254746
|
|
NM_000527.5(LDLR):c.974G>T (p.Cys325Phe)
|
rs879254746
|
|
NM_000528.4(MAN2B1):c.590C>G (p.Pro197Arg)
|
rs864621977
|
|
NM_000530.8(MPZ):c.293G>C (p.Arg98Pro)
|
rs121913589
|
|
NM_000530.8(MPZ):c.600dup (p.Lys201fs)
|
rs1553259529
|
|
NM_000530.8(MPZ):c.670G>T (p.Asp224Tyr)
|
rs267607247
|
|
NM_000530.8(MPZ):c.68-1G>A
|
rs1057518021
|
|
NM_000530.8(MPZ):c.699_702del (p.Ser233fs)
|
rs1571817103
|
|
NM_000531.6(OTC):c.77G>A (p.Arg26Gln)
|
rs68031618
|
|
NM_000533.5(PLP1):c.696+1G>A
|
rs113897548
|
|
NM_000535.5:c.1274_1275insALU
|
|
|
NM_000535.5:c.804-64_804-63insSVA
|
|
|
NM_000535.7(PMS2):c.1144+1G>C
|
rs373885654
|
|
NM_000535.7(PMS2):c.1144+1del
|
rs2128746842
|
|
NM_000535.7(PMS2):c.1145-2A>G
|
rs1325835006
|
|
NM_000535.7(PMS2):c.125TAG[1] (p.Val43del)
|
rs1064794820
|
|
NM_000535.7(PMS2):c.137G>A (p.Ser46Asn)
|
rs121434629
|
|
NM_000535.7(PMS2):c.163+2T>A
|
|
|
NM_000535.7(PMS2):c.163+2T>C
|
rs587779329
|
|
NM_000535.7(PMS2):c.163+2dup
|
|
|
NM_000535.7(PMS2):c.19_23+26delinsCC
|
|
|
NM_000535.7(PMS2):c.2006+1G>A
|
rs1554297040
|
|
NM_000535.7(PMS2):c.2006_2006+4del
|
rs771928911
|
|
NM_000535.7(PMS2):c.2007-1G>A
|
rs267608170
|
|
NM_000535.7(PMS2):c.2007-1G>C
|
|
|
NM_000535.7(PMS2):c.2007-4_2007-2delinsACG
|
|
|
NM_000535.7(PMS2):c.2095G>C (p.Asp699His)
|
rs587781317
|
|
NM_000535.7(PMS2):c.209A>T (p.Asp70Val)
|
|
|
NM_000535.7(PMS2):c.2101C>T (p.His701Tyr)
|
rs763866879
|
|
NM_000535.7(PMS2):c.2102A>G (p.His701Arg)
|
rs1583298873
|
|
NM_000535.7(PMS2):c.2174+1G>T
|
|
|
NM_000535.7(PMS2):c.2174+2del
|
|
|
NM_000535.7(PMS2):c.2175-1G>A
|
|
|
NM_000535.7(PMS2):c.2175-2A>G
|
|
|
NM_000535.7(PMS2):c.220G>A (p.Gly74Arg)
|
rs1554304979
|
|
NM_000535.7(PMS2):c.220G>C (p.Gly74Arg)
|
rs1554304979
|
|
NM_000535.7(PMS2):c.2275+1G>C
|
rs1554294393
|
|
NM_000535.7(PMS2):c.2275+2T>C
|
rs1562604682
|
|
NM_000535.7(PMS2):c.23+1G>C
|
rs587782074
|
|
NM_000535.7(PMS2):c.23+2T>A
|
|
|
NM_000535.7(PMS2):c.24-2A>G
|
rs1583419860
|
|
NM_000535.7(PMS2):c.2438_2442del (p.Arg813fs)
|
|
|
NM_000535.7(PMS2):c.2445+1G>A
|
rs876661113
|
|
NM_000535.7(PMS2):c.2446-1G>T
|
rs774583397
|
|
NM_000535.7(PMS2):c.2446-2A>G
|
rs886039709
|
|
NM_000535.7(PMS2):c.250+1G>C
|
|
|
NM_000535.7(PMS2):c.250+2T>G
|
|
|
NM_000535.7(PMS2):c.251-11CT[2]
|
|
|
NM_000535.7(PMS2):c.2531C>A (p.Pro844His)
|
rs587782787
|
|
NM_000535.7(PMS2):c.2534A>G (p.His845Arg)
|
rs1554292741
|
|
NM_000535.7(PMS2):c.2534A>T (p.His845Leu)
|
rs1554292741
|
|
NM_000535.7(PMS2):c.2555del (p.His852fs)
|
|
|
NM_000535.7(PMS2):c.2556_2557del (p.Ile853fs)
|
|
|
NM_000535.7(PMS2):c.353+2T>C
|
rs111466480
|
|
NM_000535.7(PMS2):c.537+1G>A
|
rs863224450
|
|
NM_000535.7(PMS2):c.538-1G>A
|
rs988423880
|
|
NM_000535.7(PMS2):c.705+1G>C
|
rs267608147
|
|
NM_000535.7(PMS2):c.705+1G>T
|
rs267608147
|
|
NM_000535.7(PMS2):c.705+1del
|
|
|
NM_000535.7(PMS2):c.705+2T>C
|
rs1784783734
|
|
NM_000535.7(PMS2):c.706-1G>A
|
rs1202370194
|
|
NM_000535.7(PMS2):c.706-1G>C
|
|
|
NM_000535.7(PMS2):c.706-1G>T
|
|
|
NM_000535.7(PMS2):c.706-2A>C
|
rs745487791
|
|
NM_000535.7(PMS2):c.798_803+15delinsGTAGTTCT
|
|
|
NM_000535.7(PMS2):c.803+1G>T
|
rs1562669585
|
|
NM_000535.7(PMS2):c.803+5G>A
|
rs939641251
|
|
NM_000535.7(PMS2):c.804-10T>G
|
rs267608151
|
|
NM_000535.7(PMS2):c.804-1G>A
|
rs1562664845
|
|
NM_000535.7(PMS2):c.804-1G>C
|
|
|
NM_000535.7(PMS2):c.811G>C (p.Gly271Arg)
|
|
|
NM_000535.7(PMS2):c.812G>A (p.Gly271Asp)
|
rs1583364867
|
|
NM_000535.7(PMS2):c.815del (p.Phe272fs)
|
|
|
NM_000535.7(PMS2):c.899_903+5delinsTAACAC
|
|
|
NM_000535.7(PMS2):c.902dup (p.Val302fs)
|
rs1784291698
|
|
NM_000535.7(PMS2):c.903+1G>A
|
rs1554300689
|
|
NM_000535.7(PMS2):c.903+1G>T
|
rs1554300689
|
|
NM_000535.7(PMS2):c.903+2T>A
|
|
|
NM_000535.7(PMS2):c.903+2T>C
|
rs878854059
|
|
NM_000535.7(PMS2):c.904-1G>T
|
|
|
NM_000535.7(PMS2):c.904-2A>C
|
rs587781339
|
|
NM_000535.7(PMS2):c.988+1G>T
|
rs757110564
|
|
NM_000535.7(PMS2):c.988+1del
|
rs876660075
|
|
NM_000535.7(PMS2):c.988+2T>C
|
|
|
NM_000540.3(RYR1):c.10347+1G>A
|
rs111436401
|
|
NM_000540.3(RYR1):c.13882_13896dup (p.Met4628_Phe4632dup)
|
rs1555801872
|
|
NM_000542.5(SFTPB):c.730G>A (p.Gly244Ser)
|
rs1001637675
|
|
NM_000542.5(SFTPB):c.904T>G (p.Cys302Gly)
|
|
|
NM_000545.8(HNF1A):c.2T>C (p.Met1Thr)
|
rs2135819325
|
|
NM_000545.8(HNF1A):c.327-3_327-1del
|
rs1593054210
|
|
NM_000545.8(HNF1A):c.527-1G>C
|
|
|
NM_000545.8(HNF1A):c.607C>A (p.Arg203Ser)
|
rs1180119907
|
|
NM_000545.8(HNF1A):c.607C>T (p.Arg203Cys)
|
rs1180119907
|
|
NM_000545.8(HNF1A):c.686G>A (p.Arg229Gln)
|
rs1057520779
|
|
NM_000545.8(HNF1A):c.695T>C (p.Leu232Pro)
|
|
|
NM_000545.8(HNF1A):c.955+2T>C
|
|
|
NM_000546.6(TP53):c.-29+1G>C
|
rs2151082372
|
|
NM_000546.6(TP53):c.1000G>T (p.Gly334Trp)
|
rs730882028
|
|
NM_000546.6(TP53):c.1010G>C (p.Arg337Pro)
|
rs121912664
|
|
NM_000546.6(TP53):c.1010G>T (p.Arg337Leu)
|
rs121912664
|
|
NM_000546.6(TP53):c.1021_1022delinsAG (p.Phe341Ser)
|
|
|
NM_000546.6(TP53):c.1039G>A (p.Ala347Thr)
|
rs1597349147
|
|
NM_000546.6(TP53):c.1101-1G>A
|
rs876658982
|
|
NM_000546.6(TP53):c.1101-2A>G
|
rs587781664
|
|
NM_000546.6(TP53):c.283_375+21del
|
rs1555526462
|
|
NM_000546.6(TP53):c.313G>A (p.Gly105Ser)
|
rs1060501195
|
|
NM_000546.6(TP53):c.313G>C (p.Gly105Arg)
|
rs1060501195
|
|
NM_000546.6(TP53):c.328_339del (p.Arg110_Phe113del)
|
rs587782490
|
|
NM_000546.6(TP53):c.329G>T (p.Arg110Leu)
|
rs11540654
|
|
NM_000546.6(TP53):c.374C>A (p.Thr125Lys)
|
rs786201057
|
|
NM_000546.6(TP53):c.375+1G>A
|
rs1567555445
|
|
NM_000546.6(TP53):c.375+1G>T
|
rs1567555445
|
|
NM_000546.6(TP53):c.375+2T>A
|
rs1555526469
|
|
NM_000546.6(TP53):c.375+2T>G
|
rs1555526469
|
|
NM_000546.6(TP53):c.376-2A>G
|
rs786202799
|
|
NM_000546.6(TP53):c.376-2A>T
|
rs786202799
|
|
NM_000546.6(TP53):c.376-2_377dup
|
|
|
NM_000546.6(TP53):c.376T>C (p.Tyr126His)
|
|
|
NM_000546.6(TP53):c.380C>T (p.Ser127Phe)
|
rs730881999
|
|
NM_000546.6(TP53):c.394A>G (p.Lys132Glu)
|
rs747342068
|
|
NM_000546.6(TP53):c.401T>G (p.Phe134Cys)
|
rs780442292
|
|
NM_000546.6(TP53):c.402T>A (p.Phe134Leu)
|
rs1555526278
|
|
NM_000546.6(TP53):c.405C>G (p.Cys135Trp)
|
rs1057519976
|
|
NM_000546.6(TP53):c.413C>T (p.Ala138Val)
|
rs750600586
|
|
NM_000546.6(TP53):c.421T>C (p.Cys141Arg)
|
rs1057519978
|
|
NM_000546.6(TP53):c.423C>G (p.Cys141Trp)
|
rs1057519977
|
|
NM_000546.6(TP53):c.434T>C (p.Leu145Pro)
|
rs587782197
|
|
NM_000546.6(TP53):c.451_452delinsTT (p.Pro151Phe)
|
rs1597370899
|
|
NM_000546.6(TP53):c.452C>G (p.Pro151Arg)
|
rs1057520000
|
|
NM_000546.6(TP53):c.455C>G (p.Pro152Arg)
|
rs587782705
|
|
NM_000546.6(TP53):c.466C>G (p.Arg156Gly)
|
rs563378859
|
|
NM_000546.6(TP53):c.470T>C (p.Val157Ala)
|
rs1131691023
|
|
NM_000546.6(TP53):c.473_474delinsTT (p.Arg158Leu)
|
rs1567553501
|
|
NM_000546.6(TP53):c.485T>A (p.Ile162Asn)
|
rs587780069
|
|
NM_000546.6(TP53):c.487T>A (p.Tyr163Asn)
|
rs786203436
|
|
NM_000546.6(TP53):c.487T>G (p.Tyr163Asp)
|
rs786203436
|
|
NM_000546.6(TP53):c.509_520del (p.Thr170_Val173del)
|
rs2151030744
|
|
NM_000546.6(TP53):c.515T>A (p.Val172Asp)
|
rs1131691021
|
|
NM_000546.6(TP53):c.518T>C (p.Val173Ala)
|
rs1057519747
|
|
NM_000546.6(TP53):c.532C>G (p.His178Asp)
|
rs1064795203
|
|
NM_000546.6(TP53):c.534C>A (p.His178Gln)
|
rs1555526001
|
|
NM_000546.6(TP53):c.534C>G (p.His178Gln)
|
rs1555526001
|
|
NM_000546.6(TP53):c.535C>A (p.His179Asn)
|
rs587780070
|
|
NM_000546.6(TP53):c.535C>G (p.His179Asp)
|
rs587780070
|
|
NM_000546.6(TP53):c.536A>C (p.His179Pro)
|
rs1057519991
|
|
NM_000546.6(TP53):c.536A>T (p.His179Leu)
|
rs1057519991
|
|
NM_000546.6(TP53):c.541_559+1del
|
|
|
NM_000546.6(TP53):c.559+1G>A
|
rs1131691042
|
|
NM_000546.6(TP53):c.559+2_559+3delinsGT
|
rs1597369390
|
|
NM_000546.6(TP53):c.559G>C (p.Gly187Arg)
|
rs776167460
|
|
NM_000546.6(TP53):c.569C>G (p.Pro190Arg)
|
rs876660825
|
|
NM_000546.6(TP53):c.569C>T (p.Pro190Leu)
|
rs876660825
|
|
NM_000546.6(TP53):c.569CTC[1] (p.Pro191del)
|
rs1555525902
|
|
NM_000546.6(TP53):c.579T>A (p.His193Gln)
|
rs1597368777
|
|
NM_000546.6(TP53):c.613T>C (p.Tyr205His)
|
rs1057520008
|
|
NM_000546.6(TP53):c.637C>G (p.Arg213Gly)
|
rs397516436
|
|
NM_000546.6(TP53):c.644G>A (p.Ser215Asn)
|
rs587782177
|
|
NM_000546.6(TP53):c.653T>A (p.Val218Glu)
|
|
|
NM_000546.6(TP53):c.655C>T (p.Pro219Ser)
|
rs879253894
|
|
NM_000546.6(TP53):c.657_665del (p.Tyr220_Pro222del)
|
rs876658144
|
|
NM_000546.6(TP53):c.672+1G>A
|
rs863224499
|
|
NM_000546.6(TP53):c.673-1G>C
|
rs878854073
|
|
NM_000546.6(TP53):c.673-2A>T
|
rs1555525585
|
|
NM_000546.6(TP53):c.695T>C (p.Ile232Thr)
|
rs587781589
|
|
NM_000546.6(TP53):c.698ACTACA[1] (p.Asn235_Tyr236del)
|
rs794727846
|
|
NM_000546.6(TP53):c.701A>C (p.Tyr234Ser)
|
rs587780073
|
|
NM_000546.6(TP53):c.709A>G (p.Met237Val)
|
rs730882004
|
|
NM_000546.6(TP53):c.711G>T (p.Met237Ile)
|
rs587782664
|
|
NM_000546.6(TP53):c.714T>G (p.Cys238Trp)
|
rs193920789
|
|
NM_000546.6(TP53):c.716A>G (p.Asn239Ser)
|
rs1057519999
|
|
NM_000546.6(TP53):c.716_736del (p.Asn239_Gly245del)
|
rs876659260
|
|
NM_000546.6(TP53):c.717C>G (p.Asn239Lys)
|
rs1057522275
|
|
NM_000546.6(TP53):c.718A>C (p.Ser240Arg)
|
rs1567549584
|
|
NM_000546.6(TP53):c.724T>A (p.Cys242Ser)
|
rs1057519982
|
|
NM_000546.6(TP53):c.728T>C (p.Met243Thr)
|
rs730882006
|
|
NM_000546.6(TP53):c.736A>C (p.Met246Leu)
|
rs483352695
|
|
NM_000546.6(TP53):c.737T>A (p.Met246Lys)
|
rs587780074
|
|
NM_000546.6(TP53):c.737T>C (p.Met246Thr)
|
rs587780074
|
|
NM_000546.6(TP53):c.738G>A (p.Met246Ile)
|
rs1019340046
|
|
NM_000546.6(TP53):c.738G>C (p.Met246Ile)
|
|
|
NM_000546.6(TP53):c.743G>C (p.Arg248Pro)
|
rs11540652
|
|
NM_000546.6(TP53):c.743G>T (p.Arg248Leu)
|
rs11540652
|
|
NM_000546.6(TP53):c.75-2A>G
|
rs1131691020
|
|
NM_000546.6(TP53):c.751A>C (p.Ile251Leu)
|
rs730882007
|
|
NM_000546.6(TP53):c.754_762del (p.Leu252_Ile254del)
|
rs2073243450
|
|
NM_000546.6(TP53):c.761TCA[1] (p.Ile255del)
|
rs1064794309
|
|
NM_000546.6(TP53):c.763A>T (p.Ile255Phe)
|
rs1057519995
|
|
NM_000546.6(TP53):c.770T>C (p.Leu257Pro)
|
rs28934577
|
|
NM_000546.6(TP53):c.770T>G (p.Leu257Arg)
|
rs28934577
|
|
NM_000546.6(TP53):c.781_782+8del
|
|
|
NM_000546.6(TP53):c.782+2T>A
|
|
|
NM_000546.6(TP53):c.782+2T>G
|
rs876659076
|
|
NM_000546.6(TP53):c.783-2A>T
|
rs1060501207
|
|
NM_000546.6(TP53):c.783-4_792del
|
|
|
NM_000546.6(TP53):c.794T>A (p.Leu265Gln)
|
rs879253942
|
|
NM_000546.6(TP53):c.799C>T (p.Arg267Trp)
|
rs55832599
|
|
NM_000546.6(TP53):c.814G>T (p.Val272Leu)
|
rs121912657
|
|
NM_000546.6(TP53):c.821T>C (p.Val274Ala)
|
rs1057520006
|
|
NM_000546.6(TP53):c.824G>C (p.Cys275Ser)
|
rs863224451
|
|
NM_000546.6(TP53):c.825T>G (p.Cys275Trp)
|
rs1555525279
|
|
NM_000546.6(TP53):c.829T>C (p.Cys277Arg)
|
rs1064795369
|
|
NM_000546.6(TP53):c.830G>A (p.Cys277Tyr)
|
rs763098116
|
|
NM_000546.6(TP53):c.830G>T (p.Cys277Phe)
|
rs763098116
|
|
NM_000546.6(TP53):c.832C>G (p.Pro278Ala)
|
rs17849781
|
|
NM_000546.6(TP53):c.838_846del (p.Asp281_Arg283del)
|
rs1555525215
|
|
NM_000546.6(TP53):c.838_848delinsCA (p.Arg280_Arg283delinsHis)
|
rs587781564
|
|
NM_000546.6(TP53):c.842A>T (p.Asp281Val)
|
rs587781525
|
|
NM_000546.6(TP53):c.843C>A (p.Asp281Glu)
|
rs1057519984
|
|
NM_000546.6(TP53):c.845G>C (p.Arg282Pro)
|
rs730882008
|
|
NM_000546.6(TP53):c.848G>C (p.Arg283Pro)
|
rs371409680
|
|
NM_000546.6(TP53):c.850A>C (p.Thr284Pro)
|
|
|
NM_000546.6(TP53):c.917_919+10del
|
rs1555525040
|
|
NM_000546.6(TP53):c.919+1G>C
|
rs1131691039
|
|
NM_000546.6(TP53):c.920-2A>G
|
rs397516439
|
|
NM_000546.6(TP53):c.920-2A>T
|
|
|
NM_000546.6(TP53):c.96+1G>T
|
rs1131691003
|
|
NM_000546.6(TP53):c.96+2T>G
|
|
|
NM_000546.6(TP53):c.96+2dup
|
rs1131691015
|
|
NM_000546.6(TP53):c.987_993+2delinsTA
|
|
|
NM_000546.6(TP53):c.993+1G>A
|
rs11575997
|
|
NM_000546.6(TP53):c.993+1G>C
|
rs11575997
|
|
NM_000546.6(TP53):c.993+2T>G
|
rs1597359053
|
|
NM_000546.6(TP53):c.993G>A (p.Gln331=)
|
rs11575996
|
|
NM_000546.6(TP53):c.995T>A (p.Ile332Asn)
|
|
|
NM_000548.5(TSC2):c.1172T>A (p.Val391Glu)
|
|
|
NM_000548.5(TSC2):c.1477C>G (p.Leu493Val)
|
rs45517177
|
|
NM_000548.5(TSC2):c.1717-1G>C
|
|
|
NM_000548.5(TSC2):c.1717-3C>A
|
|
|
NM_000548.5(TSC2):c.1724T>G (p.Leu575Arg)
|
|
|
NM_000548.5(TSC2):c.1871A>C (p.Asp624Ala)
|
rs2151296839
|
|
NM_000548.5(TSC2):c.1889G>A (p.Gly630Asp)
|
rs1057520642
|
|
NM_000548.5(TSC2):c.2087G>A (p.Cys696Tyr)
|
rs45486196
|
|
NM_000548.5(TSC2):c.2113G>A (p.Val705Met)
|
rs397515241
|
|
NM_000548.5(TSC2):c.2666C>T (p.Ala889Val)
|
rs137854155
|
|
NM_000548.5(TSC2):c.3182T>C (p.Leu1061Pro)
|
rs397514919
|
|
NM_000548.5(TSC2):c.3284G>A (p.Ser1095Asn)
|
rs1555510754
|
|
NM_000548.5(TSC2):c.3814+2T>G
|
|
|
NM_000548.5(TSC2):c.4672G>A (p.Glu1558Lys)
|
rs45517360
|
|
NM_000548.5(TSC2):c.4685T>C (p.Leu1562Pro)
|
rs45517362
|
|
NM_000548.5(TSC2):c.4783G>A (p.Gly1595Arg)
|
rs45517369
|
|
NM_000548.5(TSC2):c.4898_4915del (p.His1633_Lys1638del)
|
|
|
NM_000548.5(TSC2):c.4919A>G (p.His1640Arg)
|
rs794727602
|
|
NM_000548.5(TSC2):c.5017G>T (p.Val1673Phe)
|
rs45490993
|
|
NM_000548.5(TSC2):c.5045T>C (p.Leu1682Pro)
|
|
|
NM_000548.5(TSC2):c.5068+2T>C
|
rs397515152
|
|
NM_000548.5(TSC2):c.5069-3_5069-2del
|
rs1114167460
|
|
NM_000548.5(TSC2):c.5123T>C (p.Leu1708Pro)
|
rs397515274
|
|
NM_000548.5(TSC2):c.5228G>A (p.Arg1743Gln)
|
rs45507199
|
|
NM_000548.5(TSC2):c.599+2T>C
|
|
|
NM_000548.5(TSC2):c.707T>C (p.Leu236Pro)
|
rs1596278377
|
|
NM_000548.5(TSC2):c.775-2A>G
|
|
|
NM_000548.5(TSC2):c.839T>C (p.Met280Thr)
|
|
|
NM_000548.5(TSC2):c.848+2T>A
|
|
|
NM_000551.4(VHL):c.188T>G (p.Leu63Arg)
|
|
|
NM_000551.4(VHL):c.208G>A (p.Glu70Lys)
|
rs5030802
|
|
NM_000551.4(VHL):c.214T>C (p.Ser72Pro)
|
rs869025618
|
|
NM_000551.4(VHL):c.226T>A (p.Phe76Ile)
|
rs1559425911
|
|
NM_000551.4(VHL):c.226T>C (p.Phe76Leu)
|
|
|
NM_000551.4(VHL):c.232A>T (p.Asn78Tyr)
|
rs869025621
|
|
NM_000551.4(VHL):c.236G>C (p.Arg79Pro)
|
|
|
NM_000551.4(VHL):c.238A>G (p.Ser80Gly)
|
rs786202787
|
|
NM_000551.4(VHL):c.250G>A (p.Val84Met)
|
rs5030827
|
|
NM_000551.4(VHL):c.251T>A (p.Val84Glu)
|
|
|
NM_000551.4(VHL):c.263_265dup (p.Trp88_Leu89insArg)
|
rs1131690960
|
|
NM_000551.4(VHL):c.264G>T (p.Trp88Cys)
|
rs869025622
|
|
NM_000551.4(VHL):c.266T>C (p.Leu89Pro)
|
rs5030807
|
|
NM_000551.4(VHL):c.269A>T (p.Asn90Ile)
|
rs143985153
|
|
NM_000551.4(VHL):c.277G>C (p.Gly93Arg)
|
rs5030808
|
|
NM_000551.4(VHL):c.278_279delinsTT (p.Gly93Val)
|
rs1559426072
|
|
NM_000551.4(VHL):c.287A>C (p.Gln96Pro)
|
rs1559426089
|
|
NM_000551.4(VHL):c.291_296del (p.Tyr98_Pro99del)
|
rs1575922271
|
|
NM_000551.4(VHL):c.293A>C (p.Tyr98Ser)
|
rs864321643
|
|
NM_000551.4(VHL):c.302T>A (p.Leu101Gln)
|
|
|
NM_000551.4(VHL):c.302T>C (p.Leu101Pro)
|
rs1553619456
|
|
NM_000551.4(VHL):c.302T>G (p.Leu101Arg)
|
|
|
NM_000551.4(VHL):c.319C>G (p.Arg107Gly)
|
rs397516440
|
|
NM_000551.4(VHL):c.326T>A (p.Ile109Asn)
|
rs398123482
|
|
NM_000551.4(VHL):c.335_340+5del
|
rs869025632
|
|
NM_000551.4(VHL):c.341-3T>G
|
rs1131690965
|
|
NM_000551.4(VHL):c.344A>C (p.His115Pro)
|
rs5030812
|
|
NM_000551.4(VHL):c.357C>A (p.Phe119Leu)
|
|
|
NM_000551.4(VHL):c.365C>T (p.Ala122Val)
|
rs1696261924
|
|
NM_000551.4(VHL):c.395A>C (p.Gln132Pro)
|
rs1347416980
|
|
NM_000551.4(VHL):c.397A>C (p.Thr133Pro)
|
rs1131690961
|
|
NM_000551.4(VHL):c.402_428del (p.Glu134_Val142del)
|
|
|
NM_000551.4(VHL):c.460C>T (p.Pro154Ser)
|
rs1553619993
|
|
NM_000551.4(VHL):c.463+3A>C
|
rs1131690954
|
|
NM_000551.4(VHL):c.463G>T (p.Val155Leu)
|
rs869025659
|
|
NM_000551.4(VHL):c.475A>G (p.Lys159Glu)
|
rs1575932011
|
|
NM_000551.4(VHL):c.483_500dup (p.Cys162_Arg167dup)
|
rs1553620312
|
|
NM_000551.4(VHL):c.485G>A (p.Cys162Tyr)
|
rs397516444
|
|
NM_000551.4(VHL):c.487C>T (p.Leu163Phe)
|
rs1553620318
|
|
NM_000551.4(VHL):c.488T>C (p.Leu163Pro)
|
rs28940297
|
|
NM_000551.4(VHL):c.492G>T (p.Gln164His)
|
rs1352275281
|
|
NM_000551.4(VHL):c.497T>C (p.Val166Ala)
|
rs397516445
|
|
NM_000551.4(VHL):c.506T>C (p.Leu169Pro)
|
rs1131690962
|
|
NM_000551.4(VHL):c.506del (p.Leu169fs)
|
|
|
NM_000551.4(VHL):c.509T>A (p.Val170Asp)
|
rs864321642
|
|
NM_000551.4(VHL):c.575C>T (p.Pro192Leu)
|
rs902694906
|
|
NM_000551.4(VHL):c.581T>G (p.Val194Gly)
|
rs1131690963
|
|
NM_000551.4(VHL):c.588del (p.Asp197fs)
|
|
|
NM_000551.4(VHL):c.593T>C (p.Leu198Pro)
|
rs869025667
|
|
NM_000551.4(VHL):c.607_608del (p.Gln203fs)
|
|
|
NM_000552.5(VWF):c.4789C>T (p.Arg1597Trp)
|
rs61750117
|
|
NM_000702.4(ATP1A2):c.1091C>T (p.Thr364Met)
|
rs1553244881
|
|
NM_000702.4(ATP1A2):c.2284G>A (p.Gly762Ser)
|
rs1553245780
|
|
NM_000702.4(ATP1A2):c.2810G>A (p.Arg937His)
|
rs1553245943
|
|
NM_000719.7(CACNA1C):c.1609A>G (p.Asn537Asp)
|
rs1467561684
|
|
NM_000719.7(CACNA1C):c.2573G>A (p.Arg858His)
|
rs786205753
|
|
NM_000719.7(CACNA1C):c.3631A>G (p.Lys1211Glu)
|
rs786205759
|
|
NM_000719.7(CACNA1C):c.971G>A (p.Arg324Gln)
|
rs2099740070
|
|
NM_000814.6(GABRB3):c.328A>G (p.Asn110Asp)
|
|
|
NM_000814.6(GABRB3):c.757C>A (p.Pro253Thr)
|
rs1890229008
|
|
NM_000814.6(GABRB3):c.863C>T (p.Thr288Ile)
|
rs1555401440
|
|
NM_000829.4(GRIA4):c.1921A>G (p.Asn641Asp)
|
rs1555050165
|
|
NM_000834.5(GRIN2B):c.1376G>A (p.Gly459Glu)
|
|
|
NM_000834.5(GRIN2B):c.1619G>A (p.Arg540His)
|
rs672601378
|
|
NM_000834.5(GRIN2B):c.1649T>C (p.Phe550Ser)
|
rs1555112021
|
|
NM_000834.5(GRIN2B):c.2087G>A (p.Arg696His)
|
rs1555103971
|
|
NM_000834.5(GRIN2B):c.2776C>T (p.Arg926Ter)
|
rs1555102536
|
|
NM_000834.5(GRIN2B):c.4015_4016del (p.Met1339fs)
|
rs1565453023
|
|
NM_000868.4(HTR2C):c.1219_1222del (p.Ser407fs)
|
rs2071382702
|
|
NM_000891.3(KCNJ2):c.245G>A (p.Arg82Gln)
|
rs199473653
|
|
NM_000891.3(KCNJ2):c.425C>T (p.Thr142Ile)
|
|
|
NM_000891.3(KCNJ2):c.919A>G (p.Met307Val)
|
rs1555603994
|
|
NM_000937.5(POLR2A):c.3367C>G (p.Arg1123Gly)
|
rs779584016
|
|
NM_000937.5(POLR2A):c.3368G>A (p.Arg1123Gln)
|
rs1597803120
|
|
NM_000937.5(POLR2A):c.3752A>G (p.Asn1251Ser)
|
rs2070680579
|
|
NM_000944.5(PPP3CA):c.844G>A (p.Glu282Lys)
|
rs1553923787
|
|
NM_000964.4(RARA):c.827G>A (p.Arg276Gln)
|
rs2034543510
|
|
NM_000969.5(RPL5):c.73+1G>A
|
rs1553284965
|
|
NM_000975.5(RPL11):c.397-2A>G
|
rs2124432051
|
|
NM_000975.5(RPL11):c.465_466del (p.His155fs)
|
rs1644530053
|
|
NM_000975.5(RPL11):c.465_475dup (p.Lys159fs)
|
|
|
NM_000975.5(RPL11):c.508-1G>A
|
|
|
NM_000975.5(RPL11):c.508-9_508-5del
|
|
|
NM_000996.4(RPL35A):c.125A>G (p.Tyr42Cys)
|
|
|
NM_000996.4(RPL35A):c.165-16_166del
|
|
|
NM_001001344.3(ATP2B3):c.3320G>A (p.Gly1107Asp)
|
rs397514619
|
|
NM_001002295.2(GATA3):c.895C>T (p.Arg299Trp)
|
rs2131501111
|
|
NM_001003800.2(BICD2):c.1589T>C (p.Phe530Ser)
|
rs797044920
|
|
NM_001003800.2(BICD2):c.2080C>G (p.Arg694Gly)
|
rs797045412
|
|
NM_001005242.3(PKP2):c.1034+1G>C
|
rs869025496
|
|
NM_001005242.3(PKP2):c.2167+1G>A
|
rs794729116
|
|
NM_001005242.3(PKP2):c.2167+1G>T
|
rs794729116
|
|
NM_001005242.3(PKP2):c.224-1639_274del
|
|
|
NM_001005242.3(PKP2):c.2385del (p.Ala796fs)
|
|
|
NM_001005273.3(CHD3):c.2953C>T (p.Arg985Trp)
|
rs1555611722
|
|
NM_001005273.3(CHD3):c.3032G>A (p.Gly1011Asp)
|
|
|
NM_001005273.3(CHD3):c.4025G>A (p.Arg1342Gln)
|
rs1567863732
|
|
NM_001005273.3(CHD3):c.4073-1G>A
|
|
|
NM_001005273.3(CHD3):c.4073-1G>T
|
rs1970772602
|
|
NM_001005361.3(DNM2):c.1609G>A (p.Gly537Ser)
|
rs121909093
|
|
NM_001007228.2(SPOP):c.362G>A (p.Arg121Gln)
|
rs2072157379
|
|
NM_001009944.3(PKD1):c.2854-1G>T
|
|
|
NM_001009944.3(PKD1):c.7546C>T (p.Arg2516Cys)
|
rs797044902
|
|
NM_001009944.3(PKD1):c.9377C>T (p.Thr3126Ile)
|
rs1567173560
|
|
NM_001010874.5(TECRL):c.809TGT[1] (p.Leu271del)
|
|
|
NM_001015877.2(PHF6):c.965A>C (p.Tyr322Ser)
|
|
|
NM_001017420.3(ESCO2):c.861+1_861+6del
|
|
|
NM_001018005.2(TPM1):c.250G>A (p.Asp84Asn)
|
rs754664923
|
|
NM_001018005.2(TPM1):c.284T>C (p.Val95Ala)
|
rs104894504
|
|
NM_001018005.2(TPM1):c.337C>G (p.Leu113Val)
|
rs397516369
|
|
NM_001018005.2(TPM1):c.533G>A (p.Arg178His)
|
rs397516375
|
|
NM_001018005.2(TPM1):c.560A>T (p.Glu187Val)
|
rs786204411
|
|
NM_001018005.2(TPM1):c.725C>T (p.Ala242Val)
|
rs397516387
|
|
NM_001020658.2(PUM1):c.3439C>T (p.Arg1147Trp)
|
rs1557539450
|
|
NM_001022.4(RPS19):c.140C>T (p.Pro47Leu)
|
|
|
NM_001022.4(RPS19):c.167G>A (p.Arg56Gln)
|
|
|
NM_001022.4(RPS19):c.167G>T (p.Arg56Leu)
|
|
|
NM_001022.4(RPS19):c.176C>T (p.Ser59Phe)
|
|
|
NM_001022.4(RPS19):c.301C>T (p.Arg101Cys)
|
|
|
NM_001022.4(RPS19):c.335TGG[1] (p.Val113del)
|
rs1064794604
|
|
NM_001022.4(RPS19):c.411+2_411+6del
|
|
|
NM_001029.5(RPS26):c.221G>A (p.Cys74Tyr)
|
|
|
NM_001029.5(RPS26):c.3+1G>T
|
|
|
NM_001029.5(RPS26):c.312+1G>C
|
|
|
NM_001029.5(RPS26):c.313-2A>G
|
|
|
NM_001029896.2(WDR45):c.183C>A (p.Asn61Lys)
|
rs2065045729
|
|
NM_001029896.2(WDR45):c.746CCT[1] (p.Ser250del)
|
rs1064793294
|
|
NM_001029896.2(WDR45):c.973+5_973+10del
|
rs1569523436
|
|
NM_001032221.6(STXBP1):c.1029+1G>A
|
rs727504173
|
|
NM_001032221.6(STXBP1):c.136A>G (p.Lys46Glu)
|
rs1840656743
|
|
NM_001032221.6(STXBP1):c.1652G>A (p.Arg551His)
|
|
|
NM_001032221.6(STXBP1):c.560C>T (p.Pro187Leu)
|
rs1841141204
|
|
NM_001032382.2(PQBP1):c.232C>T (p.Pro78Ser)
|
rs1557041239
|
|
NM_001032382.2(PQBP1):c.463C>T (p.Arg155Ter)
|
rs1602330420
|
|
NM_001034850.3(RETREG1):c.321-2_321delinsTGT
|
|
|
NM_001034853.2(RPGR):c.2405_2406del (p.Glu802fs)
|
rs398122960
|
|
NM_001035.3(RYR2):c.1172C>A (p.Ala391Asp)
|
rs374306538
|
|
NM_001035.3(RYR2):c.12325A>G (p.Met4109Val)
|
rs730880196
|
|
NM_001035.3(RYR2):c.12419G>C (p.Gly4140Ala)
|
|
|
NM_001035.3(RYR2):c.12533A>G (p.Asn4178Ser)
|
rs794728787
|
|
NM_001035.3(RYR2):c.14251A>C (p.Lys4751Gln)
|
rs794728802
|
|
NM_001035.3(RYR2):c.14861C>G (p.Ala4954Gly)
|
|
|
NM_001035.3(RYR2):c.14876G>A (p.Arg4959Gln)
|
rs794728811
|
|
NM_001035.3(RYR2):c.230C>T (p.Ala77Val)
|
rs1060500142
|
|
NM_001035.3(RYR2):c.505C>G (p.Arg169Gly)
|
|
|
NM_001035.3(RYR2):c.506G>T (p.Arg169Leu)
|
rs397516539
|
|
NM_001035.3(RYR2):c.5170G>A (p.Glu1724Lys)
|
rs794728740
|
|
NM_001035.3(RYR2):c.527G>T (p.Arg176Leu)
|
rs794728708
|
|
NM_001035.3(RYR2):c.6649C>T (p.His2217Tyr)
|
rs1372052481
|
|
NM_001035.3(RYR2):c.7024G>A (p.Gly2342Arg)
|
rs1553263907
|
|
NM_001035.3(RYR2):c.7159G>A (p.Ala2387Thr)
|
rs794728753
|
|
NM_001035.3(RYR2):c.7160C>T (p.Ala2387Val)
|
rs794728754
|
|
NM_001035.3(RYR2):c.7202G>A (p.Arg2401His)
|
rs794728756
|
|
NM_001037.5(SCN1B):c.253C>T (p.Arg85Cys)
|
rs786205830
|
|
NM_001040142.2(SCN2A):c.2636G>C (p.Gly879Ala)
|
rs1559376694
|
|
NM_001040142.2(SCN2A):c.2816T>C (p.Leu939Pro)
|
|
|
NM_001040142.2(SCN2A):c.2936T>G (p.Leu979Trp)
|
rs1553583544
|
|
NM_001040142.2(SCN2A):c.2960G>T (p.Ser987Ile)
|
rs796053124
|
|
NM_001040142.2(SCN2A):c.408G>A (p.Met136Ile)
|
rs1697221269
|
|
NM_001040142.2(SCN2A):c.4876C>T (p.Arg1626Ter)
|
rs1060503102
|
|
NM_001040142.2(SCN2A):c.5265_5268del (p.Phe1755fs)
|
rs1466129143
|
|
NM_001040142.2(SCN2A):c.5274T>A (p.Ser1758Arg)
|
rs1553463586
|
|
NM_001040142.2(SCN2A):c.5317G>A (p.Ala1773Thr)
|
rs796053162
|
|
NM_001040142.2(SCN2A):c.5644C>T (p.Arg1882Ter)
|
rs796053166
|
|
NM_001040142.2(SCN2A):c.5737C>T (p.Gln1913Ter)
|
rs1553463850
|
|
NM_001040142.2(SCN2A):c.584A>G (p.Asp195Gly)
|
rs1697272149
|
|
NM_001040142.2(SCN2A):c.629T>A (p.Leu210Gln)
|
rs1559352517
|
|
NM_001040142.2(SCN2A):c.722T>G (p.Leu241Arg)
|
|
|
NM_001040616.3(LINS1):c.1754_1755del (p.Asp585fs)
|
rs1834650809
|
|
NM_001042424.3(NSD2):c.2291G>T (p.Cys764Phe)
|
|
|
NM_001042432.2(CLN3):c.1056+1G>T
|
rs1217725909
|
|
NM_001042492.3(NF1):c.1062+2T>C
|
rs2066510391
|
|
NM_001042492.3(NF1):c.1062G>A (p.Lys354=)
|
rs1131691118
|
|
NM_001042492.3(NF1):c.1063-13G>A
|
rs1131691066
|
|
NM_001042492.3(NF1):c.1063-1G>A
|
rs1555610955
|
|
NM_001042492.3(NF1):c.1070T>G (p.Leu357Arg)
|
rs137854563
|
|
NM_001042492.3(NF1):c.1139T>C (p.Leu380Pro)
|
rs1555611004
|
|
NM_001042492.3(NF1):c.1186-1G>A
|
rs876660782
|
|
NM_001042492.3(NF1):c.1186-1G>T
|
rs876660782
|
|
NM_001042492.3(NF1):c.1186-2A>C
|
|
|
NM_001042492.3(NF1):c.1260+1G>C
|
rs267606603
|
|
NM_001042492.3(NF1):c.1260+1G>T
|
rs267606603
|
|
NM_001042492.3(NF1):c.1261-19G>A
|
rs1597688663
|
|
NM_001042492.3(NF1):c.1261-5_1262del
|
|
|
NM_001042492.3(NF1):c.128T>C (p.Leu43Pro)
|
rs1555604899
|
|
NM_001042492.3(NF1):c.1393-1555C>G
|
|
|
NM_001042492.3(NF1):c.1393-1G>T
|
rs1131691131
|
|
NM_001042492.3(NF1):c.1527+2dup
|
rs1597698533
|
|
NM_001042492.3(NF1):c.1527+4_1527+7del
|
rs1555612294
|
|
NM_001042492.3(NF1):c.1527+5G>A
|
rs1060500352
|
|
NM_001042492.3(NF1):c.1528-1G>A
|
rs876660595
|
|
NM_001042492.3(NF1):c.1528-1G>T
|
rs876660595
|
|
NM_001042492.3(NF1):c.1595T>G (p.Leu532Arg)
|
rs199474737
|
|
NM_001042492.3(NF1):c.1642-449A>G
|
rs863224655
|
|
NM_001042492.3(NF1):c.1657C>G (p.His553Asp)
|
|
|
NM_001042492.3(NF1):c.1658A>G (p.His553Arg)
|
rs1064794274
|
|
NM_001042492.3(NF1):c.1721+542A>G
|
rs2066942173
|
|
NM_001042492.3(NF1):c.1721G>A (p.Ser574Asn)
|
rs1555613206
|
|
NM_001042492.3(NF1):c.1722-14_1722-5del
|
rs2144015153
|
|
NM_001042492.3(NF1):c.1722-1G>A
|
rs1567845818
|
|
NM_001042492.3(NF1):c.1733T>C (p.Leu578Pro)
|
rs199474774
|
|
NM_001042492.3(NF1):c.173T>G (p.Leu58Arg)
|
rs1597626094
|
|
NM_001042492.3(NF1):c.176CTA[1] (p.Thr60del)
|
rs2143627187
|
|
NM_001042492.3(NF1):c.1845+2T>G
|
|
|
NM_001042492.3(NF1):c.2002-2A>C
|
rs1555613741
|
|
NM_001042492.3(NF1):c.205-3_205-2del
|
|
|
NM_001042492.3(NF1):c.2072T>C (p.Leu691Pro)
|
rs1131691132
|
|
NM_001042492.3(NF1):c.2084T>C (p.Leu695Pro)
|
rs199474761
|
|
NM_001042492.3(NF1):c.2125T>C (p.Cys709Arg)
|
rs1131691095
|
|
NM_001042492.3(NF1):c.2251+3A>C
|
|
|
NM_001042492.3(NF1):c.2252-1G>C
|
rs587781577
|
|
NM_001042492.3(NF1):c.2252-2A>G
|
rs1131691105
|
|
NM_001042492.3(NF1):c.2252-3T>G
|
rs1057518842
|
|
NM_001042492.3(NF1):c.2288T>G (p.Leu763Arg)
|
rs199474762
|
|
NM_001042492.3(NF1):c.2325+3A>G
|
rs1057517848
|
|
NM_001042492.3(NF1):c.2329T>A (p.Trp777Arg)
|
rs876658853
|
|
NM_001042492.3(NF1):c.2338A>C (p.Thr780Pro)
|
rs1205746953
|
|
NM_001042492.3(NF1):c.2339C>A (p.Thr780Lys)
|
rs199474746
|
|
NM_001042492.3(NF1):c.2339C>G (p.Thr780Arg)
|
rs199474746
|
|
NM_001042492.3(NF1):c.2352G>T (p.Trp784Cys)
|
|
|
NM_001042492.3(NF1):c.248A>C (p.Gln83Pro)
|
rs1060500360
|
|
NM_001042492.3(NF1):c.2509T>A (p.Trp837Arg)
|
rs587781747
|
|
NM_001042492.3(NF1):c.2521A>C (p.Thr841Pro)
|
rs2067066952
|
|
NM_001042492.3(NF1):c.2530C>T (p.Leu844Phe)
|
rs199474785
|
|
NM_001042492.3(NF1):c.2540T>C (p.Leu847Pro)
|
rs199474747
|
|
NM_001042492.3(NF1):c.2693T>C (p.Leu898Pro)
|
rs199474786
|
|
NM_001042492.3(NF1):c.269T>C (p.Leu90Pro)
|
rs1555605393
|
|
NM_001042492.3(NF1):c.277T>C (p.Cys93Arg)
|
rs1555605398
|
|
NM_001042492.3(NF1):c.2786T>C (p.Leu929Pro)
|
rs1555614338
|
|
NM_001042492.3(NF1):c.2798T>C (p.Leu933Pro)
|
rs1555614342
|
|
NM_001042492.3(NF1):c.2850+2T>G
|
rs1597715880
|
|
NM_001042492.3(NF1):c.2850_2850+2dup
|
rs1597715874
|
|
NM_001042492.3(NF1):c.2851-1G>A
|
rs1597716274
|
|
NM_001042492.3(NF1):c.2984T>C (p.Leu995Pro)
|
rs1597716466
|
|
NM_001042492.3(NF1):c.3044T>C (p.Leu1015Pro)
|
rs1131691112
|
|
NM_001042492.3(NF1):c.3104T>A (p.Met1035Lys)
|
rs137854553
|
|
NM_001042492.3(NF1):c.3114-1G>A
|
rs1555614611
|
|
NM_001042492.3(NF1):c.3114-1G>T
|
|
|
NM_001042492.3(NF1):c.3114-2A>G
|
rs1428885377
|
|
NM_001042492.3(NF1):c.3114-8T>G
|
rs1597717471
|
|
NM_001042492.3(NF1):c.3198-314G>A
|
rs2067116490
|
|
NM_001042492.3(NF1):c.3251C>G (p.Pro1084Arg)
|
rs1164081667
|
|
NM_001042492.3(NF1):c.3315-2A>G
|
rs1555614914
|
|
NM_001042492.3(NF1):c.3427C>T (p.His1143Tyr)
|
rs1555614963
|
|
NM_001042492.3(NF1):c.3445A>G (p.Met1149Val)
|
rs1187097568
|
|
NM_001042492.3(NF1):c.3496+1G>A
|
rs2067138719
|
|
NM_001042492.3(NF1):c.3496G>C (p.Gly1166Arg)
|
|
|
NM_001042492.3(NF1):c.3502G>C (p.Gly1168Arg)
|
rs878853883
|
|
NM_001042492.3(NF1):c.3544G>T (p.Val1182Phe)
|
rs1555615027
|
|
NM_001042492.3(NF1):c.3568G>A (p.Gly1190Ser)
|
rs1597719982
|
|
NM_001042492.3(NF1):c.3587T>G (p.Leu1196Arg)
|
rs199474741
|
|
NM_001042492.3(NF1):c.3827G>C (p.Arg1276Pro)
|
rs137854556
|
|
NM_001042492.3(NF1):c.3974G>C (p.Arg1325Thr)
|
rs863224447
|
|
NM_001042492.3(NF1):c.3974G>T (p.Arg1325Met)
|
rs863224447
|
|
NM_001042492.3(NF1):c.4231C>G (p.Leu1411Val)
|
rs199474789
|
|
NM_001042492.3(NF1):c.4332+1G>A
|
rs1555618572
|
|
NM_001042492.3(NF1):c.4332+1dup
|
|
|
NM_001042492.3(NF1):c.4332G>A (p.Lys1444=)
|
rs199474750
|
|
NM_001042492.3(NF1):c.4340A>C (p.Gln1447Pro)
|
rs786204157
|
|
NM_001042492.3(NF1):c.4341G>C (p.Gln1447His)
|
rs876660206
|
|
NM_001042492.3(NF1):c.4370A>G (p.Lys1457Arg)
|
rs1555618656
|
|
NM_001042492.3(NF1):c.4372GAA[1] (p.Glu1459del)
|
rs267606607
|
|
NM_001042492.3(NF1):c.4430+1G>T
|
rs773151680
|
|
NM_001042492.3(NF1):c.4532T>G (p.Leu1511Arg)
|
rs1135402864
|
|
NM_001042492.3(NF1):c.4577+1del
|
|
|
NM_001042492.3(NF1):c.4724+2T>G
|
rs1597748995
|
|
NM_001042492.3(NF1):c.4725-1G>A
|
rs1555619391
|
|
NM_001042492.3(NF1):c.4768T>G (p.Leu1590Val)
|
rs1567865010
|
|
NM_001042492.3(NF1):c.4796C>T (p.Ser1599Phe)
|
rs1555619407
|
|
NM_001042492.3(NF1):c.479G>A (p.Arg160Lys)
|
rs199474752
|
|
NM_001042492.3(NF1):c.4877A>C (p.His1626Pro)
|
|
|
NM_001042492.3(NF1):c.4930G>T (p.Asp1644Tyr)
|
rs1131691123
|
|
NM_001042492.3(NF1):c.5268+5_5268+6del
|
|
|
NM_001042492.3(NF1):c.5311A>G (p.Lys1771Glu)
|
rs1131691103
|
|
NM_001042492.3(NF1):c.5489G>T (p.Arg1830Leu)
|
rs771529172
|
|
NM_001042492.3(NF1):c.5498T>C (p.Leu1833Pro)
|
rs2151541565
|
|
NM_001042492.3(NF1):c.5609G>C (p.Arg1870Pro)
|
|
|
NM_001042492.3(NF1):c.5610-2A>C
|
|
|
NM_001042492.3(NF1):c.5744T>C (p.Leu1915Pro)
|
rs1555533875
|
|
NM_001042492.3(NF1):c.5768C>A (p.Thr1923Lys)
|
rs786203824
|
|
NM_001042492.3(NF1):c.586G>A (p.Glu196Lys)
|
rs876659079
|
|
NM_001042492.3(NF1):c.60+2T>C
|
rs2143145948
|
|
NM_001042492.3(NF1):c.60+2del
|
rs1131691101
|
|
NM_001042492.3(NF1):c.6003_6006+1dup
|
|
|
NM_001042492.3(NF1):c.6007-2_6007del
|
rs1597842196
|
|
NM_001042492.3(NF1):c.61-1G>T
|
rs1263745475
|
|
NM_001042492.3(NF1):c.6148-1G>T
|
|
|
NM_001042492.3(NF1):c.6343C>A (p.Pro2115Thr)
|
|
|
NM_001042492.3(NF1):c.6404C>T (p.Thr2135Ile)
|
rs1555534770
|
|
NM_001042492.3(NF1):c.6428-2A>G
|
rs1060500312
|
|
NM_001042492.3(NF1):c.647T>C (p.Leu216Pro)
|
rs199474756
|
|
NM_001042492.3(NF1):c.654+1G>T
|
rs1060500245
|
|
NM_001042492.3(NF1):c.6642+18A>G
|
rs1555534893
|
|
NM_001042492.3(NF1):c.6642+31T>G
|
|
|
NM_001042492.3(NF1):c.667T>A (p.Trp223Arg)
|
|
|
NM_001042492.3(NF1):c.6685T>C (p.Trp2229Arg)
|
rs1060500342
|
|
NM_001042492.3(NF1):c.6704+1G>C
|
rs1060500376
|
|
NM_001042492.3(NF1):c.6705-1G>C
|
rs1060500356
|
|
NM_001042492.3(NF1):c.6705-3C>A
|
rs1131691079
|
|
NM_001042492.3(NF1):c.6705-3C>G
|
rs1131691079
|
|
NM_001042492.3(NF1):c.6806_6819+5del
|
|
|
NM_001042492.3(NF1):c.6819+1G>C
|
rs1555534964
|
|
NM_001042492.3(NF1):c.6862C>T (p.Gln2288Ter)
|
|
|
NM_001042492.3(NF1):c.68dup (p.Thr25fs)
|
rs2143625205
|
|
NM_001042492.3(NF1):c.6919_6921del (p.Lys2307del)
|
rs587782819
|
|
NM_001042492.3(NF1):c.6968T>C (p.Leu2323Pro)
|
rs1131691267
|
|
NM_001042492.3(NF1):c.7169T>G (p.Leu2390Trp)
|
rs1597851443
|
|
NM_001042492.3(NF1):c.7190-1G>A
|
rs2070073417
|
|
NM_001042492.3(NF1):c.7199A>G (p.His2400Arg)
|
rs1597858362
|
|
NM_001042492.3(NF1):c.731-1G>T
|
rs1555608928
|
|
NM_001042492.3(NF1):c.7458-1G>T
|
|
|
NM_001042492.3(NF1):c.7968_7970+2delinsACAC
|
rs1597867032
|
|
NM_001042492.3(NF1):c.7970+2T>C
|
|
|
NM_001042492.3(NF1):c.7971-2A>C
|
|
|
NM_001042492.3(NF1):c.809A>C (p.Gln270Pro)
|
|
|
NM_001042492.3(NF1):c.8113+2T>G
|
rs1597868312
|
|
NM_001042492.3(NF1):c.8114-1G>C
|
rs1597868727
|
|
NM_001042492.3(NF1):c.819_821del (p.Leu274del)
|
rs2143786045
|
|
NM_001042492.3(NF1):c.889-1G>T
|
rs587781517
|
|
NM_001042492.3(NF1):c.889-1del
|
|
|
NM_001042492.3(NF1):c.980T>C (p.Leu327Pro)
|
rs201624827
|
|
NM_001042492.3(NF1):c.989C>T (p.Ala330Val)
|
rs1555610898
|
|
NM_001042492.3(NF1):c.99A>G (p.Lys33=)
|
rs786203280
|
|
NM_001042681.2(RERE):c.4293C>A (p.His1431Gln)
|
rs869312871
|
|
NM_001042750.2(STAG2):c.2584A>G (p.Arg862Gly)
|
rs1556553319
|
|
NM_001048174.2(MUTYH):c.1102+1G>T
|
rs587781337
|
|
NM_001048174.2(MUTYH):c.1240-1G>T
|
rs876660837
|
|
NM_001048174.2(MUTYH):c.1257_1258del (p.Ile421fs)
|
rs876659414
|
|
NM_001048174.2(MUTYH):c.1387A>T (p.Lys463Ter)
|
rs876660774
|
|
NM_001048174.2(MUTYH):c.1392_1392+6del
|
rs864621967
|
|
NM_001048174.2(MUTYH):c.1393-1G>A
|
rs1057517459
|
|
NM_001048174.2(MUTYH):c.1393-2_1393-1del
|
rs1570346782
|
|
NM_001048174.2(MUTYH):c.1430del (p.Cys477fs)
|
|
|
NM_001048174.2(MUTYH):c.1434+1G>T
|
rs876659420
|
|
NM_001048174.2(MUTYH):c.1434+2del
|
rs2149102703
|
|
NM_001048174.2(MUTYH):c.1434+4A>G
|
rs876658323
|
|
NM_001048174.2(MUTYH):c.1450del (p.Gln484fs)
|
|
|
NM_001048174.2(MUTYH):c.1561del (p.Gln521fs)
|
|
|
NM_001048174.2(MUTYH):c.1A>G (p.Met1Val)
|
rs1570467133
|
|
NM_001048174.2(MUTYH):c.248T>C (p.Leu83Pro)
|
rs1557485553
|
|
NM_001048174.2(MUTYH):c.264+1G>T
|
rs1553130042
|
|
NM_001048174.2(MUTYH):c.265-2A>G
|
|
|
NM_001048174.2(MUTYH):c.299A>G (p.Tyr100Cys)
|
rs876660615
|
|
NM_001048174.2(MUTYH):c.304+2T>C
|
|
|
NM_001048174.2(MUTYH):c.305-2A>G
|
rs863224452
|
|
NM_001048174.2(MUTYH):c.317A>T (p.Glu106Val)
|
rs864622450
|
|
NM_001048174.2(MUTYH):c.323T>C (p.Met108Thr)
|
|
|
NM_001048174.2(MUTYH):c.378+1del
|
|
|
NM_001048174.2(MUTYH):c.378+2T>G
|
rs1553129521
|
|
NM_001048174.2(MUTYH):c.378G>A (p.Gln126=)
|
rs1645260006
|
|
NM_001048174.2(MUTYH):c.379-1G>A
|
rs1057520660
|
|
NM_001048174.2(MUTYH):c.379-1G>T
|
|
|
NM_001048174.2(MUTYH):c.40A>T (p.Lys14Ter)
|
|
|
NM_001048174.2(MUTYH):c.420G>A (p.Glu140=)
|
rs876658641
|
|
NM_001048174.2(MUTYH):c.461G>C (p.Arg154Pro)
|
rs143353451
|
|
NM_001048174.2(MUTYH):c.479_492+1del
|
rs766553845
|
|
NM_001048174.2(MUTYH):c.492+1del
|
rs1553128712
|
|
NM_001048174.2(MUTYH):c.493-2A>G
|
rs1553128663
|
|
NM_001048174.2(MUTYH):c.493-3C>G
|
|
|
NM_001048174.2(MUTYH):c.605A>G (p.Gln202Arg)
|
rs1645128943
|
|
NM_001048174.2(MUTYH):c.606+1G>T
|
rs878854193
|
|
NM_001048174.2(MUTYH):c.606G>C (p.Gln202His)
|
rs199989617
|
|
NM_001048174.2(MUTYH):c.622G>A (p.Asp208Asn)
|
rs1570409700
|
|
NM_001048174.2(MUTYH):c.629A>G (p.Asn210Ser)
|
rs1057517765
|
|
NM_001048174.2(MUTYH):c.652G>T (p.Val218Phe)
|
rs587780749
|
|
NM_001048174.2(MUTYH):c.655C>G (p.Arg219Gly)
|
rs587782885
|
|
NM_001048174.2(MUTYH):c.740_745dup (p.Gly248_Asp249insAlaGly)
|
|
|
NM_001048174.2(MUTYH):c.763A>G (p.Met255Val)
|
rs876659676
|
|
NM_001048174.2(MUTYH):c.914-1G>A
|
|
|
NM_001065.4(TNFRSF1A):c.123T>G (p.Asp41Glu)
|
rs104895271
|
|
NM_001065.4(TNFRSF1A):c.184T>G (p.Cys62Gly)
|
rs104895225
|
|
NM_001065.4(TNFRSF1A):c.250T>C (p.Cys84Arg)
|
rs104895253
|
|
NM_001077365.2(POMT1):c.141T>G (p.Tyr47Ter)
|
|
|
NM_001077418.3(TMEM231):c.790G>A (p.Glu264Lys)
|
rs797044954
|
|
NM_001077653.2(TBX20):c.130C>T (p.Gln44Ter)
|
|
|
NM_001077653.2(TBX20):c.139G>T (p.Glu47Ter)
|
|
|
NM_001077653.2(TBX20):c.205G>T (p.Gly69Ter)
|
|
|
NM_001077653.2(TBX20):c.418dup (p.Val140fs)
|
rs1562567739
|
|
NM_001077653.2(TBX20):c.697dup (p.Ile233fs)
|
rs2128714664
|
|
NM_001079668.3(NKX2-1):c.695C>T (p.Pro232Leu)
|
rs1881107186
|
|
NM_001079802.2(FKTN):c.1175dup (p.Tyr392Ter)
|
|
|
NM_001079802.2(FKTN):c.1176C>A (p.Tyr392Ter)
|
rs1203741361
|
|
NM_001079802.2(FKTN):c.1261_1286delinsACC (p.Ala421fs)
|
rs1588315166
|
|
NM_001079866.2(BCS1L):c.320+1G>T
|
rs386833856
|
|
NM_001079872.2(CUL4B):c.1204C>G (p.Arg402Gly)
|
rs1260356990
|
|
NM_001079872.2(CUL4B):c.1852+1G>A
|
rs797044862
|
|
NM_001079872.2(CUL4B):c.1852+1del
|
rs1556200443
|
|
NM_001080.3(ALDH5A1):c.1506_1521del (p.Glu501_Cys502insTer)
|
|
|
NM_001080.3(ALDH5A1):c.667T>C (p.Cys223Arg)
|
|
|
NM_001080449.3(DNA2):c.1983+1G>T
|
rs1415432326
|
|
NM_001080453.3(INTS1):c.1711+1G>A
|
|
|
NM_001081550.2(THOC2):c.2818G>A (p.Glu940Lys)
|
|
|
NM_001083962.2(TCF4):c.1486+2T>C
|
rs1555721921
|
|
NM_001083962.2(TCF4):c.1720A>G (p.Asn574Asp)
|
rs2047119736
|
|
NM_001083962.2(TCF4):c.1733G>A (p.Arg578His)
|
rs121909123
|
|
NM_001083962.2(TCF4):c.1772_1776delinsCT (p.Leu591_Gly592delinsPro)
|
rs1555710416
|
|
NM_001083962.2(TCF4):c.1811_1822del (p.Pro604_Lys607del)
|
rs1555710171
|
|
NM_001083962.2(TCF4):c.1816A>C (p.Thr606Pro)
|
rs2047096127
|
|
NM_001083962.2(TCF4):c.991-1G>A
|
|
|
NM_001089.3(ABCA3):c.127C>T (p.Arg43Cys)
|
|
|
NM_001089.3(ABCA3):c.2053-1G>C
|
rs1596842934
|
|
NM_001089.3(ABCA3):c.4376G>A (p.Gly1459Asp)
|
|
|
NM_001089.3(ABCA3):c.440C>T (p.Pro147Leu)
|
|
|
NM_001089.3(ABCA3):c.4618G>A (p.Glu1540Lys)
|
|
|
NM_001089.3(ABCA3):c.4648C>T (p.Arg1550Trp)
|
|
|
NM_001089.3(ABCA3):c.557C>T (p.Pro186Leu)
|
|
|
NM_001089.3(ABCA3):c.629G>T (p.Gly210Val)
|
|
|
NM_001098.3(ACO2):c.1181G>A (p.Gly394Glu)
|
rs761368190
|
|
NM_001098.3(ACO2):c.1722G>C (p.Trp574Cys)
|
rs869312927
|
|
NM_001099404.2(SCN5A):c.612-1G>C
|
rs1553706324
|
|
NM_001100.4(ACTA1):c.218T>G (p.Ile73Ser)
|
rs1553255501
|
|
NM_001101.5(ACTB):c.1097dup (p.Ser368fs)
|
rs1554329078
|
|
NM_001101.5(ACTB):c.589G>A (p.Gly197Ser)
|
rs1554329317
|
|
NM_001101.5(ACTB):c.617G>A (p.Arg206Gln)
|
rs886039472
|
|
NM_001101.5(ACTB):c.773C>T (p.Pro258Leu)
|
rs1554329281
|
|
NM_001101.5(ACTB):c.779C>A (p.Ala260Glu)
|
rs1784808970
|
|
NM_001101.5(ACTB):c.888C>G (p.Asn296Lys)
|
rs769182426
|
|
NM_001103.4(ACTN2):c.683T>C (p.Met228Thr)
|
rs786205144
|
|
NM_001110219.3(GJB6):c.148G>C (p.Asp50His)
|
rs1869351345
|
|
NM_001110556.2(FLNA):c.125A>G (p.Lys42Arg)
|
rs1569551930
|
|
NM_001110556.2(FLNA):c.415G>C (p.Gly139Arg)
|
rs1557179684
|
|
NM_001110556.2(FLNA):c.620C>T (p.Pro207Leu)
|
rs28935469
|
|
NM_001110792.2(MECP2):c.348G>T (p.Trp116Cys)
|
rs1557137745
|
|
NM_001110792.2(MECP2):c.414-3C>G
|
rs267608465
|
|
NM_001110792.2(MECP2):c.419A>C (p.Gln140Pro)
|
rs61748383
|
|
NM_001110792.2(MECP2):c.433C>A (p.Arg145Ser)
|
rs28934904
|
|
NM_001110792.2(MECP2):c.439A>G (p.Lys147Glu)
|
rs61748391
|
|
NM_001110792.2(MECP2):c.787_889del (p.Pro263fs)
|
|
|
NM_001110792.2(MECP2):c.941_1168delinsGTACTTCTTGATGGGGC (p.Pro314_Ala390delinsArgThrSerTer)
|
|
|
NM_001110792.2(MECP2):c.953G>C (p.Arg318Pro)
|
rs61751443
|
|
NM_001110792.2(MECP2):c.961C>T (p.Arg321Trp)
|
rs61751444
|
|
NM_001111125.3(IQSEC2):c.2983C>T (p.Arg995Trp)
|
rs1057521657
|
|
NM_001111125.3(IQSEC2):c.3227T>C (p.Leu1076Pro)
|
|
|
NM_001111125.3(IQSEC2):c.3859C>T (p.Gln1287Ter)
|
|
|
NM_001111125.3(IQSEC2):c.4002T>A (p.Tyr1334Ter)
|
|
|
NM_001112741.2(KCNC1):c.1204G>A (p.Gly402Ser)
|
|
|
NM_001112741.2(KCNC1):c.959G>A (p.Arg320His)
|
rs727502818
|
|
NM_001114753.3(ENG):c.1109T>C (p.Leu370Pro)
|
|
|
NM_001114753.3(ENG):c.1120A>G (p.Lys374Glu)
|
|
|
NM_001114753.3(ENG):c.1121_1122delinsGC (p.Lys374Ser)
|
rs2131885751
|
|
NM_001114753.3(ENG):c.1134+1G>T
|
|
|
NM_001114753.3(ENG):c.1146C>G (p.Cys382Trp)
|
|
|
NM_001114753.3(ENG):c.1208T>C (p.Phe403Ser)
|
rs1830433526
|
|
NM_001114753.3(ENG):c.1235G>A (p.Cys412Tyr)
|
rs1554809513
|
|
NM_001114753.3(ENG):c.1310G>C (p.Arg437Pro)
|
|
|
NM_001114753.3(ENG):c.1312-2A>G
|
|
|
NM_001114753.3(ENG):c.1319T>G (p.Val440Gly)
|
rs1554809363
|
|
NM_001114753.3(ENG):c.1429-2del
|
|
|
NM_001114753.3(ENG):c.1469T>C (p.Leu490Ser)
|
rs763475207
|
|
NM_001114753.3(ENG):c.1517T>C (p.Leu506Pro)
|
|
|
NM_001114753.3(ENG):c.155G>A (p.Gly52Asp)
|
rs1564462765
|
|
NM_001114753.3(ENG):c.157T>C (p.Cys53Arg)
|
|
|
NM_001114753.3(ENG):c.1686+1G>C
|
|
|
NM_001114753.3(ENG):c.1687-1G>A
|
rs1554809106
|
|
NM_001114753.3(ENG):c.1733_1737del (p.Asp578fs)
|
|
|
NM_001114753.3(ENG):c.219+2T>C
|
rs2131918332
|
|
NM_001114753.3(ENG):c.219G>A (p.Thr73=)
|
rs755348996
|
|
NM_001114753.3(ENG):c.360+5G>A
|
rs1060501417
|
|
NM_001114753.3(ENG):c.503TCC[2] (p.Leu170del)
|
|
|
NM_001114753.3(ENG):c.506T>C (p.Leu169Pro)
|
|
|
NM_001114753.3(ENG):c.512G>C (p.Arg171Pro)
|
rs756980265
|
|
NM_001114753.3(ENG):c.523+1G>A
|
rs113930974
|
|
NM_001114753.3(ENG):c.523+5G>C
|
|
|
NM_001114753.3(ENG):c.545G>A (p.Cys182Tyr)
|
|
|
NM_001114753.3(ENG):c.569T>A (p.Met190Lys)
|
rs1830602163
|
|
NM_001114753.3(ENG):c.586T>C (p.Trp196Arg)
|
rs2131889336
|
|
NM_001114753.3(ENG):c.614G>C (p.Arg205Pro)
|
|
|
NM_001114753.3(ENG):c.619T>C (p.Cys207Arg)
|
rs2131889169
|
|
NM_001114753.3(ENG):c.659T>C (p.Ile220Thr)
|
rs1588582695
|
|
NM_001114753.3(ENG):c.662T>C (p.Leu221Pro)
|
rs1554810378
|
|
NM_001114753.3(ENG):c.67+2T>C
|
rs2131936480
|
|
NM_001114753.3(ENG):c.694_699del (p.Arg232_Thr233del)
|
rs2131888057
|
|
NM_001114753.3(ENG):c.787_789del (p.Ile263del)
|
rs1830579035
|
|
NM_001114753.3(ENG):c.816+5G>C
|
|
|
NM_001114753.3(ENG):c.832T>C (p.Ser278Pro)
|
|
|
NM_001114753.3(ENG):c.899T>C (p.Leu300Pro)
|
rs1335718486
|
|
NM_001114753.3(ENG):c.917T>C (p.Leu306Pro)
|
|
|
NM_001114753.3(ENG):c.95T>A (p.Leu32His)
|
|
|
NM_001122630.2(CDKN1C):c.788-1G>A
|
rs1848884556
|
|
NM_001124758.2(SPNS2):c.c.1066_1067delinsT (p.Pro356Cysfs)
|
rs1555537637
|
|
NM_001126108.2(SLC12A3):c.1181G>A (p.Gly394Asp)
|
rs777815715
|
|
NM_001127178.3(PIGG):c.760-1G>A
|
|
|
NM_001127222.2(CACNA1A):c.2131A>G (p.Ile711Val)
|
rs1568514116
|
|
NM_001127222.2(CACNA1A):c.2134G>A (p.Ala712Thr)
|
|
|
NM_001127222.2(CACNA1A):c.4363G>C (p.Val1455Leu)
|
|
|
NM_001127222.2(CACNA1A):c.485G>T (p.Gly162Val)
|
|
|
NM_001127222.2(CACNA1A):c.4988G>A (p.Arg1663Gln)
|
rs121908247
|
|
NM_001127222.2(CACNA1A):c.4997G>C (p.Arg1666Pro)
|
rs1568447650
|
|
NM_001127222.2(CACNA1A):c.5123T>C (p.Ile1708Thr)
|
rs121909326
|
|
NM_001127222.2(CACNA1A):c.5134-2A>C
|
|
|
NM_001127222.2(CACNA1A):c.5260G>A (p.Gly1754Arg)
|
rs1555737113
|
|
NM_001127222.2(CACNA1A):c.5941-2A>G
|
rs1555731992
|
|
NM_001127511.3(APC):c.-191T>G
|
|
|
NM_001127511.3(APC):c.-192_-191delinsTAGCAAGGG
|
rs1580995904
|
|
NM_001127644.2(GABRA1):c.809T>C (p.Val270Ala)
|
rs1755063375
|
|
NM_001128126.3(AP4S1):c.2T>C (p.Met1Thr)
|
rs755820725
|
|
NM_001128425.2(MUTYH):c.35G>A (p.Trp12Ter)
|
rs1064795596
|
|
NM_001128425.2(MUTYH):c.36+2T>C
|
|
|
NM_001128425.2(MUTYH):c.933_933+1del
|
rs1553127514
|
|
NM_001128840.3(CACNA1D):c.4362+1G>C
|
rs1553676901
|
|
NM_001129820.2(SLFN14):c.652A>G (p.Lys218Glu)
|
rs869320716
|
|
NM_001130004.2(ACTN1):c.136C>T (p.Arg46Trp)
|
rs747559032
|
|
NM_001130004.2(ACTN1):c.959G>A (p.Arg320Gln)
|
rs1566606055
|
|
NM_001134363.3(RBM20):c.1901G>T (p.Arg634Leu)
|
rs267607001
|
|
NM_001134363.3(RBM20):c.1909A>G (p.Ser637Gly)
|
rs267607005
|
|
NM_001134407.3(GRIN2A):c.1844A>G (p.Asn615Ser)
|
|
|
NM_001134407.3(GRIN2A):c.1903G>A (p.Ala635Thr)
|
rs2042449005
|
|
NM_001134407.3(GRIN2A):c.1925T>G (p.Leu642Arg)
|
rs2042448519
|
|
NM_001136157.2(OTUD5):c.1543C>T (p.Arg515Trp)
|
|
|
NM_001142864.4(PIEZO1):c.7477CTGGAG[1] (p.2493LE[1])
|
rs587776992
|
|
NM_001148.6(ANK2):c.10360del (p.Arg3454fs)
|
rs2096016231
|
|
NM_001148.6(ANK2):c.2179-1G>A
|
rs2065825161
|
|
NM_001162501.2(TNRC6B):c.4583-2A>G
|
rs2071205689
|
|
NM_001164508.2(NEB):c.24579G>A (p.Ser8193=)
|
rs202048855
|
|
NM_001165963.4(SCN1A):c.1028G>A (p.Gly343Asp)
|
rs121918753
|
|
NM_001165963.4(SCN1A):c.1029-2A>C
|
|
|
NM_001165963.4(SCN1A):c.1207T>C (p.Phe403Leu)
|
rs121917966
|
|
NM_001165963.4(SCN1A):c.1663-2A>G
|
rs1085307520
|
|
NM_001165963.4(SCN1A):c.230T>C (p.Leu77Pro)
|
rs2105982276
|
|
NM_001165963.4(SCN1A):c.2512_2514del (p.Phe838del)
|
|
|
NM_001165963.4(SCN1A):c.2624C>T (p.Thr875Met)
|
rs121918623
|
|
NM_001165963.4(SCN1A):c.2636T>G (p.Leu879Arg)
|
rs1559200901
|
|
NM_001165963.4(SCN1A):c.2797C>T (p.His933Tyr)
|
rs886041716
|
|
NM_001165963.4(SCN1A):c.2837G>A (p.Arg946His)
|
|
|
NM_001165963.4(SCN1A):c.3968C>A (p.Pro1323His)
|
rs1057521746
|
|
NM_001165963.4(SCN1A):c.4154T>G (p.Phe1385Cys)
|
|
|
NM_001165963.4(SCN1A):c.4168G>A (p.Val1390Met)
|
rs121917986
|
|
NM_001165963.4(SCN1A):c.4321G>C (p.Ala1441Pro)
|
rs121917974
|
|
NM_001165963.4(SCN1A):c.4327G>C (p.Asp1443His)
|
|
|
NM_001165963.4(SCN1A):c.4847T>C (p.Ile1616Thr)
|
rs2105447247
|
|
NM_001165963.4(SCN1A):c.4907G>A (p.Arg1636Gln)
|
rs121917995
|
|
NM_001165963.4(SCN1A):c.5174_5179del (p.Gly1725_Trp1726del)
|
|
|
NM_001165963.4(SCN1A):c.5218G>A (p.Asp1740Asn)
|
rs796053035
|
|
NM_001165963.4(SCN1A):c.5306A>G (p.Tyr1769Cys)
|
rs886039460
|
|
NM_001165963.4(SCN1A):c.841C>A (p.Pro281Thr)
|
rs1553549660
|
|
NM_001170629.2(CHD8):c.2730+1G>C
|
|
|
NM_001170629.2(CHD8):c.3308-1G>A
|
rs1888129073
|
|
NM_001172509.2(SATB2):c.1253T>G (p.Met418Arg)
|
rs1553547885
|
|
NM_001172509.2(SATB2):c.1730_1731del (p.Glu577fs)
|
rs1553544102
|
|
NM_001173990.3(TMEM216):c.326dup (p.Gln110fs)
|
|
|
NM_001182.5(ALDH7A1):c.247-1G>C
|
rs1060502949
|
|
NM_001184880.2(PCDH19):c.1682C>G (p.Pro561Arg)
|
rs796052819
|
|
NM_001184880.2(PCDH19):c.593G>C (p.Arg198Pro)
|
rs772837341
|
|
NM_001190274.2(FBXO11):c.2720_2721del (p.His907fs)
|
|
|
NM_001195518.2(MICU1):c.40del (p.Ala14fs)
|
rs749124658
|
|
NM_001197104.2(KMT2A):c.3539G>A (p.Gly1180Asp)
|
|
|
NM_001197104.2(KMT2A):c.4310G>T (p.Cys1437Phe)
|
rs1950203796
|
|
NM_001197104.2(KMT2A):c.8570T>G (p.Leu2857Arg)
|
|
|
NM_001197293.3(DPYSL2):c.357C>A (p.Ser119Arg)
|
rs138340807
|
|
NM_001205019.2(GK):c.152+1G>C
|
rs1933016162
|
|
NM_001205293.3(CACNA1E):c.1054G>A (p.Gly352Arg)
|
rs886039323
|
|
NM_001205293.3(CACNA1E):c.2093T>C (p.Phe698Ser)
|
rs869312920
|
|
NM_001205293.3(CACNA1E):c.2104G>A (p.Ala702Thr)
|
rs12131800
|
|
NM_001205293.3(CACNA1E):c.4268T>C (p.Ile1423Thr)
|
rs1658149520
|
|
NM_001220.5(CAMK2B):c.901A>G (p.Lys301Glu)
|
rs1554385111
|
|
NM_001232.4(CASQ2):c.199C>T (p.Gln67Ter)
|
|
|
NM_001232.4(CASQ2):c.235-2A>G
|
rs1060502164
|
|
NM_001232.4(CASQ2):c.319+2T>G
|
|
|
NM_001232.4(CASQ2):c.381C>T (p.Gly127=)
|
rs775663612
|
|
NM_001232.4(CASQ2):c.532+1G>A
|
|
|
NM_001232.4(CASQ2):c.925del (p.Asp309fs)
|
|
|
NM_001232.4(CASQ2):c.939+5G>C
|
rs746128346
|
|
NM_001242896.3(DEPDC5):c.3805+1G>T
|
|
|
NM_001244008.2(KIF1A):c.173C>T (p.Ser58Leu)
|
rs672601362
|
|
NM_001244008.2(KIF1A):c.31C>T (p.Arg11Trp)
|
rs548204329
|
|
NM_001244008.2(KIF1A):c.469C>T (p.Leu157Phe)
|
rs2054761091
|
|
NM_001244008.2(KIF1A):c.641G>A (p.Ser214Asn)
|
rs1553638309
|
|
NM_001244008.2(KIF1A):c.746T>C (p.Leu249Pro)
|
rs672601371
|
|
NM_001244008.2(KIF1A):c.773C>T (p.Thr258Met)
|
rs1553638086
|
|
NM_001244008.2(KIF1A):c.824T>C (p.Leu275Pro)
|
rs2054279545
|
|
NM_001253852.3(AP4B1):c.470-2A>C
|
|
|
NM_001256071.3(RNF213):c.12341C>T (p.Thr4114Ile)
|
rs2079442813
|
|
NM_001256071.3(RNF213):c.12365A>C (p.Asp4122Ala)
|
rs1555676146
|
|
NM_001256447.2(BCAP31):c.739T>C (p.Ter247Gln)
|
rs1557047215
|
|
NM_001258038.2(SPRY1):c.173_174insAG (p.Val59fs)
|
rs1725164851
|
|
NM_001258271.2(MLH1):c.1896+834del
|
|
|
NM_001267550.2(TTN):c.100704C>A (p.Tyr33568Ter)
|
rs1553501227
|
|
NM_001267550.2(TTN):c.100742dup (p.Thr33582fs)
|
|
|
NM_001267550.2(TTN):c.100825C>T (p.Arg33609Ter)
|
rs1057518195
|
|
NM_001267550.2(TTN):c.101098delinsCT (p.Asp33700fs)
|
rs794729367
|
|
NM_001267550.2(TTN):c.10131G>A (p.Trp3377Ter)
|
|
|
NM_001267550.2(TTN):c.101728G>T (p.Glu33910Ter)
|
rs943777958
|
|
NM_001267550.2(TTN):c.101789del (p.Leu33930fs)
|
rs1575285509
|
|
NM_001267550.2(TTN):c.101992_101993del (p.Met33998fs)
|
|
|
NM_001267550.2(TTN):c.101997G>A (p.Trp33999Ter)
|
|
|
NM_001267550.2(TTN):c.102057del (p.Asn34020fs)
|
rs1690605753
|
|
NM_001267550.2(TTN):c.10219del (p.Tyr3407fs)
|
|
|
NM_001267550.2(TTN):c.102234_102235del (p.Arg34079fs)
|
|
|
NM_001267550.2(TTN):c.102234_102237del (p.Arg34079fs)
|
rs754731686
|
|
NM_001267550.2(TTN):c.102352C>T (p.Arg34118Ter)
|
rs1212204584
|
|
NM_001267550.2(TTN):c.102523C>T (p.Arg34175Ter)
|
rs752697861
|
|
NM_001267550.2(TTN):c.102585T>A (p.Tyr34195Ter)
|
rs1690344942
|
|
NM_001267550.2(TTN):c.102766del (p.Arg34256fs)
|
|
|
NM_001267550.2(TTN):c.10285_10288dup (p.Asn3430fs)
|
rs2088191243
|
|
NM_001267550.2(TTN):c.102876_102877delinsAT (p.Tyr34292_Lys34293delinsTer)
|
|
|
NM_001267550.2(TTN):c.103117_103124del (p.Glu34373fs)
|
|
|
NM_001267550.2(TTN):c.103303del (p.Arg34435fs)
|
|
|
NM_001267550.2(TTN):c.103322_103323dup (p.Ala34442fs)
|
|
|
NM_001267550.2(TTN):c.103705A>T (p.Lys34569Ter)
|
rs1553490574
|
|
NM_001267550.2(TTN):c.103758_103759del (p.Arg34586fs)
|
rs1689777278
|
|
NM_001267550.2(TTN):c.103845C>G (p.Tyr34615Ter)
|
rs2154134580
|
|
NM_001267550.2(TTN):c.103846_103849dup (p.Pro34617fs)
|
rs2154134575
|
|
NM_001267550.2(TTN):c.104069del (p.Gly34690fs)
|
rs2154134397
|
|
NM_001267550.2(TTN):c.104170_104174del (p.Lys34724fs)
|
rs2154134297
|
|
NM_001267550.2(TTN):c.104197dup (p.Ile34733fs)
|
|
|
NM_001267550.2(TTN):c.104265C>G (p.Tyr34755Ter)
|
|
|
NM_001267550.2(TTN):c.104393del (p.Lys34798fs)
|
|
|
NM_001267550.2(TTN):c.104515C>T (p.Arg34839Ter)
|
rs1553488049
|
|
NM_001267550.2(TTN):c.104573del (p.Ile34858fs)
|
|
|
NM_001267550.2(TTN):c.104653C>T (p.Arg34885Ter)
|
rs1057518003
|
|
NM_001267550.2(TTN):c.104753T>A (p.Leu34918Ter)
|
|
|
NM_001267550.2(TTN):c.104924G>A (p.Trp34975Ter)
|
|
|
NM_001267550.2(TTN):c.104941G>T (p.Glu34981Ter)
|
|
|
NM_001267550.2(TTN):c.105161del (p.Pro35054fs)
|
|
|
NM_001267550.2(TTN):c.105190_105191del (p.Val35064fs)
|
rs770878165
|
|
NM_001267550.2(TTN):c.105613_105614del (p.Asn35205fs)
|
|
|
NM_001267550.2(TTN):c.106259_106271del (p.Pro35420fs)
|
|
|
NM_001267550.2(TTN):c.106836_106837del (p.Ser35613fs)
|
|
|
NM_001267550.2(TTN):c.11311+1G>T
|
rs1553963537
|
|
NM_001267550.2(TTN):c.11722A>T (p.Lys3908Ter)
|
|
|
NM_001267550.2(TTN):c.12268C>T (p.Gln4090Ter)
|
rs1574087037
|
|
NM_001267550.2(TTN):c.12405del (p.Asn4135fs)
|
rs727503658
|
|
NM_001267550.2(TTN):c.12643_12644del (p.Gln4215fs)
|
rs869312038
|
|
NM_001267550.2(TTN):c.12742C>T (p.Gln4248Ter)
|
rs794729308
|
|
NM_001267550.2(TTN):c.12870dup (p.Val4291fs)
|
rs869025556
|
|
NM_001267550.2(TTN):c.13117C>T (p.Gln4373Ter)
|
rs1064793411
|
|
NM_001267550.2(TTN):c.13174A>T (p.Arg4392Ter)
|
|
|
NM_001267550.2(TTN):c.13181_13182del (p.Asn4394fs)
|
|
|
NM_001267550.2(TTN):c.13192C>T (p.Gln4398Ter)
|
|
|
NM_001267550.2(TTN):c.13697_13701del (p.Gln4566fs)
|
|
|
NM_001267550.2(TTN):c.13729G>T (p.Glu4577Ter)
|
|
|
NM_001267550.2(TTN):c.13937C>G (p.Ser4646Ter)
|
|
|
NM_001267550.2(TTN):c.14301C>A (p.Cys4767Ter)
|
|
|
NM_001267550.2(TTN):c.2089A>T (p.Lys697Ter)
|
rs1554023044
|
|
NM_001267550.2(TTN):c.40508T>G (p.Leu13503Ter)
|
rs974323028
|
|
NM_001267550.2(TTN):c.40537del (p.Glu13513fs)
|
rs1553756349
|
|
NM_001267550.2(TTN):c.41120_41123del (p.Glu13707fs)
|
|
|
NM_001267550.2(TTN):c.41202del (p.Phe13734fs)
|
|
|
NM_001267550.2(TTN):c.41222_41223del (p.Arg13741fs)
|
rs1436937190
|
|
NM_001267550.2(TTN):c.41367dup (p.Val13790fs)
|
|
|
NM_001267550.2(TTN):c.41432del (p.Val13811fs)
|
rs2060408539
|
|
NM_001267550.2(TTN):c.41473C>T (p.Arg13825Ter)
|
rs869312043
|
|
NM_001267550.2(TTN):c.41483del (p.Pro13828fs)
|
rs876657664
|
|
NM_001267550.2(TTN):c.41581G>T (p.Glu13861Ter)
|
rs2154230108
|
|
NM_001267550.2(TTN):c.42154del (p.Ile14052fs)
|
|
|
NM_001267550.2(TTN):c.42486_42489del (p.Cys14163fs)
|
rs797046064
|
|
NM_001267550.2(TTN):c.42507_42508delinsT (p.Lys14169fs)
|
|
|
NM_001267550.2(TTN):c.42598_42599insG (p.Met14200fs)
|
rs1553742630
|
|
NM_001267550.2(TTN):c.42614_42635delinsCCTTCAGGGGCACAGCAAAGTCAAGG (p.Leu14205fs)
|
|
|
NM_001267550.2(TTN):c.42639dup (p.Gln14214fs)
|
rs2060106818
|
|
NM_001267550.2(TTN):c.42786del (p.Trp14262fs)
|
|
|
NM_001267550.2(TTN):c.42807_42819dup (p.Lys14274fs)
|
|
|
NM_001267550.2(TTN):c.42822del (p.Lys14274fs)
|
rs2060064534
|
|
NM_001267550.2(TTN):c.43122del (p.Ile14374_Leu14375insTer)
|
rs1203006457
|
|
NM_001267550.2(TTN):c.43141C>T (p.Gln14381Ter)
|
rs754568652
|
|
NM_001267550.2(TTN):c.43538del (p.Ser14513fs)
|
|
|
NM_001267550.2(TTN):c.43816C>T (p.Gln14606Ter)
|
|
|
NM_001267550.2(TTN):c.44035C>T (p.Arg14679Ter)
|
rs776970935
|
|
NM_001267550.2(TTN):c.44046_44047del (p.His14682fs)
|
|
|
NM_001267550.2(TTN):c.44067_44068del (p.Glu14690fs)
|
|
|
NM_001267550.2(TTN):c.44143del (p.Leu14715fs)
|
|
|
NM_001267550.2(TTN):c.44149del (p.Thr14717fs)
|
|
|
NM_001267550.2(TTN):c.44170_44173del (p.Glu14724fs)
|
|
|
NM_001267550.2(TTN):c.44281+1G>A
|
rs771562210
|
|
NM_001267550.2(TTN):c.44831del (p.Phe14944fs)
|
|
|
NM_001267550.2(TTN):c.44840del (p.Pro14947fs)
|
|
|
NM_001267550.2(TTN):c.44878C>T (p.Arg14960Ter)
|
rs2058478213
|
|
NM_001267550.2(TTN):c.45100dup (p.Thr15034fs)
|
rs2154212181
|
|
NM_001267550.2(TTN):c.45156T>A (p.Cys15052Ter)
|
rs1060500487
|
|
NM_001267550.2(TTN):c.45283G>T (p.Glu15095Ter)
|
|
|
NM_001267550.2(TTN):c.45316_45320dup (p.Arg15108fs)
|
rs794729390
|
|
NM_001267550.2(TTN):c.45433_45445delinsGG (p.Lys15145fs)
|
|
|
NM_001267550.2(TTN):c.45616G>T (p.Glu15206Ter)
|
rs796314079
|
|
NM_001267550.2(TTN):c.45617-1G>C
|
|
|
NM_001267550.2(TTN):c.45823_45848del (p.Ala15275fs)
|
|
|
NM_001267550.2(TTN):c.46337_46338del (p.Arg15446fs)
|
|
|
NM_001267550.2(TTN):c.46344dup (p.Ile15449fs)
|
|
|
NM_001267550.2(TTN):c.46374_46375dup (p.Glu15459fs)
|
rs2154210696
|
|
NM_001267550.2(TTN):c.46421_46422del (p.Phe15474fs)
|
|
|
NM_001267550.2(TTN):c.46603C>T (p.Arg15535Ter)
|
rs764654357
|
|
NM_001267550.2(TTN):c.46668_46671del (p.Glu15557fs)
|
|
|
NM_001267550.2(TTN):c.47137_47138del (p.Ser15713fs)
|
rs886039125
|
|
NM_001267550.2(TTN):c.47487_47488del (p.Tyr15829_Ser15830delinsTer)
|
rs1447249014
|
|
NM_001267550.2(TTN):c.47779G>T (p.Gly15927Ter)
|
|
|
NM_001267550.2(TTN):c.47797A>T (p.Arg15933Ter)
|
rs2057499255
|
|
NM_001267550.2(TTN):c.48119del (p.Arg16040fs)
|
|
|
NM_001267550.2(TTN):c.48248_48251del (p.Gly16083fs)
|
|
|
NM_001267550.2(TTN):c.48264del (p.Gly16089fs)
|
rs2154208052
|
|
NM_001267550.2(TTN):c.48286G>T (p.Glu16096Ter)
|
|
|
NM_001267550.2(TTN):c.48502del (p.Thr16168fs)
|
|
|
NM_001267550.2(TTN):c.48638+2T>G
|
|
|
NM_001267550.2(TTN):c.48760+1G>T
|
|
|
NM_001267550.2(TTN):c.48760G>T (p.Glu16254Ter)
|
|
|
NM_001267550.2(TTN):c.49171C>T (p.Arg16391Ter)
|
rs570046043
|
|
NM_001267550.2(TTN):c.49338T>A (p.Tyr16446Ter)
|
|
|
NM_001267550.2(TTN):c.49346-1G>A
|
rs869312070
|
|
NM_001267550.2(TTN):c.49378dup (p.Ser16460fs)
|
|
|
NM_001267550.2(TTN):c.49500C>A (p.Cys16500Ter)
|
|
|
NM_001267550.2(TTN):c.49560dup (p.Tyr16521fs)
|
|
|
NM_001267550.2(TTN):c.49658G>A (p.Trp16553Ter)
|
|
|
NM_001267550.2(TTN):c.49793G>A (p.Trp16598Ter)
|
|
|
NM_001267550.2(TTN):c.49858G>T (p.Glu16620Ter)
|
rs1553699454
|
|
NM_001267550.2(TTN):c.50069del (p.Lys16690fs)
|
rs1064796139
|
|
NM_001267550.2(TTN):c.50083C>T (p.Arg16695Ter)
|
rs751502842
|
|
NM_001267550.2(TTN):c.50134_50137dup (p.Thr16713fs)
|
rs794729321
|
|
NM_001267550.2(TTN):c.50162_50163del (p.Tyr16721fs)
|
|
|
NM_001267550.2(TTN):c.50296C>T (p.Arg16766Ter)
|
rs754866489
|
|
NM_001267550.2(TTN):c.50315G>A (p.Trp16772Ter)
|
|
|
NM_001267550.2(TTN):c.50330del (p.Asn16777fs)
|
|
|
NM_001267550.2(TTN):c.50358T>A (p.Tyr16786Ter)
|
rs72677249
|
|
NM_001267550.2(TTN):c.50375_50378del (p.Glu16792fs)
|
|
|
NM_001267550.2(TTN):c.50487_50490dup (p.Glu16831delinsLysTer)
|
rs1553696967
|
|
NM_001267550.2(TTN):c.50657_50660dup (p.Tyr16887Ter)
|
rs2056330918
|
|
NM_001267550.2(TTN):c.50661C>A (p.Tyr16887Ter)
|
rs1553696233
|
|
NM_001267550.2(TTN):c.50767G>T (p.Glu16923Ter)
|
|
|
NM_001267550.2(TTN):c.50859del (p.Asp16952_Cys16953insTer)
|
|
|
NM_001267550.2(TTN):c.51127A>T (p.Lys17043Ter)
|
rs794729269
|
|
NM_001267550.2(TTN):c.51129dup (p.Val17044fs)
|
|
|
NM_001267550.2(TTN):c.51203_51224dup (p.Thr17077_Pro17078insSerArgIleTerGlyThr)
|
rs2154198963
|
|
NM_001267550.2(TTN):c.51424C>T (p.Gln17142Ter)
|
|
|
NM_001267550.2(TTN):c.51436C>T (p.Gln17146Ter)
|
rs906494713
|
|
NM_001267550.2(TTN):c.51444del (p.Asp17149fs)
|
rs1362409861
|
|
NM_001267550.2(TTN):c.51503G>A (p.Trp17168Ter)
|
|
|
NM_001267550.2(TTN):c.51528del (p.Ser17177fs)
|
|
|
NM_001267550.2(TTN):c.51624_51654dup (p.Gln17219delinsSerLysArgThrTer)
|
rs1553692107
|
|
NM_001267550.2(TTN):c.51667C>T (p.Arg17223Ter)
|
rs748956593
|
|
NM_001267550.2(TTN):c.51965dup (p.Leu17322fs)
|
|
|
NM_001267550.2(TTN):c.52041T>A (p.Tyr17347Ter)
|
|
|
NM_001267550.2(TTN):c.52576_52603del (p.Asn17525_Ala17526insTer)
|
rs1064792915
|
|
NM_001267550.2(TTN):c.52601T>A (p.Leu17534Ter)
|
rs1559746821
|
|
NM_001267550.2(TTN):c.52975C>T (p.Gln17659Ter)
|
rs2154197188
|
|
NM_001267550.2(TTN):c.53026_53027del (p.Val17676fs)
|
|
|
NM_001267550.2(TTN):c.53288-1G>C
|
rs1553685927
|
|
NM_001267550.2(TTN):c.53355G>A (p.Trp17785Ter)
|
rs794729273
|
|
NM_001267550.2(TTN):c.53393del (p.Gly17798fs)
|
rs794729324
|
|
NM_001267550.2(TTN):c.53412del (p.Asp17805fs)
|
|
|
NM_001267550.2(TTN):c.53535del (p.Cys17845fs)
|
|
|
NM_001267550.2(TTN):c.53543del (p.Pro17848fs)
|
|
|
NM_001267550.2(TTN):c.53599G>T (p.Glu17867Ter)
|
rs1131691381
|
|
NM_001267550.2(TTN):c.53616del (p.Glu17873fs)
|
|
|
NM_001267550.2(TTN):c.53649G>A (p.Trp17883Ter)
|
|
|
NM_001267550.2(TTN):c.53653G>T (p.Glu17885Ter)
|
rs727503607
|
|
NM_001267550.2(TTN):c.54023_54024insC (p.Glu18008fs)
|
|
|
NM_001267550.2(TTN):c.54067C>T (p.Arg18023Ter)
|
rs1553682168
|
|
NM_001267550.2(TTN):c.54259del (p.Asp18087fs)
|
|
|
NM_001267550.2(TTN):c.54320dup (p.Ser18108fs)
|
rs2054384043
|
|
NM_001267550.2(TTN):c.54392_54393dup (p.Ile18132fs)
|
|
|
NM_001267550.2(TTN):c.54427del (p.Ala18143fs)
|
|
|
NM_001267550.2(TTN):c.54638G>A (p.Trp18213Ter)
|
rs727503602
|
|
NM_001267550.2(TTN):c.54652C>T (p.Arg18218Ter)
|
|
|
NM_001267550.2(TTN):c.54811+1G>A
|
rs1205836993
|
|
NM_001267550.2(TTN):c.54812-2A>T
|
|
|
NM_001267550.2(TTN):c.54976_54979del (p.Asp18326fs)
|
|
|
NM_001267550.2(TTN):c.55129_55130insC (p.Glu18377fs)
|
rs2154193431
|
|
NM_001267550.2(TTN):c.55269+1G>A
|
|
|
NM_001267550.2(TTN):c.55403dup (p.Thr18469fs)
|
|
|
NM_001267550.2(TTN):c.55492del (p.Leu18498fs)
|
|
|
NM_001267550.2(TTN):c.55893G>A (p.Trp18631Ter)
|
rs2154192598
|
|
NM_001267550.2(TTN):c.55972C>T (p.Arg18658Ter)
|
rs764985774
|
|
NM_001267550.2(TTN):c.56089G>T (p.Glu18697Ter)
|
rs1391010387
|
|
NM_001267550.2(TTN):c.56178del (p.Asp18727fs)
|
|
|
NM_001267550.2(TTN):c.56287_56288dup (p.Ile18764fs)
|
|
|
NM_001267550.2(TTN):c.56440_56443del (p.Gly18814fs)
|
|
|
NM_001267550.2(TTN):c.56473del (p.Arg18825fs)
|
|
|
NM_001267550.2(TTN):c.56495G>A (p.Trp18832Ter)
|
rs1576247054
|
|
NM_001267550.2(TTN):c.56564_56576del (p.Tyr18855fs)
|
rs1294679653
|
|
NM_001267550.2(TTN):c.56641del (p.Leu18881fs)
|
|
|
NM_001267550.2(TTN):c.56720del (p.Glu18907fs)
|
|
|
NM_001267550.2(TTN):c.56792G>A (p.Trp18931Ter)
|
rs1060500526
|
|
NM_001267550.2(TTN):c.56940_56957delinsT (p.Ala18981fs)
|
|
|
NM_001267550.2(TTN):c.56978dup (p.Phe18994fs)
|
|
|
NM_001267550.2(TTN):c.57057del (p.Lys19019_Val19020insTer)
|
rs1553662326
|
|
NM_001267550.2(TTN):c.57262+1G>A
|
|
|
NM_001267550.2(TTN):c.57277del (p.Gln19093fs)
|
|
|
NM_001267550.2(TTN):c.57334del (p.Ile19112fs)
|
|
|
NM_001267550.2(TTN):c.57377G>A (p.Trp19126Ter)
|
|
|
NM_001267550.2(TTN):c.57518_57521del (p.Lys19173fs)
|
|
|
NM_001267550.2(TTN):c.58157dup (p.Thr19387fs)
|
|
|
NM_001267550.2(TTN):c.58290dup (p.Asp19431Ter)
|
|
|
NM_001267550.2(TTN):c.58474_58480del (p.Val19492fs)
|
|
|
NM_001267550.2(TTN):c.58606A>T (p.Lys19536Ter)
|
|
|
NM_001267550.2(TTN):c.58788_58795dup (p.Thr19599delinsAsnTer)
|
|
|
NM_001267550.2(TTN):c.58838del (p.Tyr19613fs)
|
rs1576141328
|
|
NM_001267550.2(TTN):c.58925del (p.Pro19642fs)
|
|
|
NM_001267550.2(TTN):c.59127del (p.Ser19710fs)
|
rs2050559188
|
|
NM_001267550.2(TTN):c.59201_59202del (p.Pro19734fs)
|
rs752948913
|
|
NM_001267550.2(TTN):c.59205del (p.Glu19735fs)
|
rs397517643
|
|
NM_001267550.2(TTN):c.59351_59352del (p.Pro19784fs)
|
rs886039027
|
|
NM_001267550.2(TTN):c.59353G>T (p.Glu19785Ter)
|
rs794729276
|
|
NM_001267550.2(TTN):c.59394del (p.Val19800fs)
|
|
|
NM_001267550.2(TTN):c.59602_59603del (p.Val19868fs)
|
|
|
NM_001267550.2(TTN):c.59605dup (p.Ser19869fs)
|
|
|
NM_001267550.2(TTN):c.59763del (p.Ser19921fs)
|
rs1559599859
|
|
NM_001267550.2(TTN):c.59767C>T (p.Gln19923Ter)
|
|
|
NM_001267550.2(TTN):c.59848C>T (p.Arg19950Ter)
|
rs1559598775
|
|
NM_001267550.2(TTN):c.59977G>T (p.Glu19993Ter)
|
rs1085307825
|
|
NM_001267550.2(TTN):c.60307A>T (p.Arg20103Ter)
|
rs1553644307
|
|
NM_001267550.2(TTN):c.60455_60456del (p.Thr20152fs)
|
rs2154184873
|
|
NM_001267550.2(TTN):c.60579G>A (p.Trp20193Ter)
|
rs2050116026
|
|
NM_001267550.2(TTN):c.60716del (p.Gly20239fs)
|
|
|
NM_001267550.2(TTN):c.60837_60840delinsAA (p.Val20280fs)
|
|
|
NM_001267550.2(TTN):c.60902del (p.Ser20301fs)
|
rs1553643140
|
|
NM_001267550.2(TTN):c.60931C>T (p.Arg20311Ter)
|
rs869312055
|
|
NM_001267550.2(TTN):c.61394_61395del (p.Val20465fs)
|
rs2154184320
|
|
NM_001267550.2(TTN):c.61555C>T (p.Arg20519Ter)
|
rs794729278
|
|
NM_001267550.2(TTN):c.61612del (p.Glu20538fs)
|
|
|
NM_001267550.2(TTN):c.61637dup (p.Tyr20547fs)
|
rs886039084
|
|
NM_001267550.2(TTN):c.61770G>A (p.Trp20590Ter)
|
|
|
NM_001267550.2(TTN):c.61855del (p.Val20619fs)
|
|
|
NM_001267550.2(TTN):c.61890del (p.Asn20631fs)
|
|
|
NM_001267550.2(TTN):c.62131_62135dup (p.Asp20713fs)
|
|
|
NM_001267550.2(TTN):c.62197_62198insC (p.Cys20733fs)
|
|
|
NM_001267550.2(TTN):c.62506C>T (p.Arg20836Ter)
|
rs757231565
|
|
NM_001267550.2(TTN):c.62627del (p.Val20876fs)
|
rs1553640190
|
|
NM_001267550.2(TTN):c.62654G>A (p.Trp20885Ter)
|
|
|
NM_001267550.2(TTN):c.62722C>T (p.Arg20908Ter)
|
rs543860009
|
|
NM_001267550.2(TTN):c.62935G>T (p.Glu20979Ter)
|
rs1306891128
|
|
NM_001267550.2(TTN):c.63142_63143del (p.Glu21048fs)
|
|
|
NM_001267550.2(TTN):c.63467del (p.Pro21156fs)
|
|
|
NM_001267550.2(TTN):c.63601C>T (p.Arg21201Ter)
|
rs764243269
|
|
NM_001267550.2(TTN):c.63722delinsAA (p.Ser21241Ter)
|
rs2049307995
|
|
NM_001267550.2(TTN):c.63898_63899del (p.His21300fs)
|
|
|
NM_001267550.2(TTN):c.64011C>A (p.Tyr21337Ter)
|
rs1553636324
|
|
NM_001267550.2(TTN):c.64243del (p.Trp21415fs)
|
|
|
NM_001267550.2(TTN):c.64249_64253dup (p.Tyr21418Ter)
|
rs794729329
|
|
NM_001267550.2(TTN):c.64287del (p.Gly21430fs)
|
rs2049038862
|
|
NM_001267550.2(TTN):c.64397-1G>A
|
|
|
NM_001267550.2(TTN):c.64453C>T (p.Arg21485Ter)
|
rs768345594
|
|
NM_001267550.2(TTN):c.64468del (p.Val21490fs)
|
|
|
NM_001267550.2(TTN):c.64586_64587del (p.Val21529fs)
|
|
|
NM_001267550.2(TTN):c.64688del (p.Pro21563fs)
|
rs774395395
|
|
NM_001267550.2(TTN):c.64810C>T (p.Arg21604Ter)
|
|
|
NM_001267550.2(TTN):c.64849del (p.Thr21617fs)
|
|
|
NM_001267550.2(TTN):c.64999C>T (p.Arg21667Ter)
|
rs794729280
|
|
NM_001267550.2(TTN):c.65040G>A (p.Trp21680Ter)
|
|
|
NM_001267550.2(TTN):c.65324dup (p.Leu21776fs)
|
|
|
NM_001267550.2(TTN):c.6532C>T (p.Gln2178Ter)
|
rs1193046655
|
|
NM_001267550.2(TTN):c.65449del (p.Glu21817fs)
|
|
|
NM_001267550.2(TTN):c.65536del (p.Ser21846fs)
|
|
|
NM_001267550.2(TTN):c.65704_65712delinsT (p.Gly21901_Thr21902insTer)
|
|
|
NM_001267550.2(TTN):c.66059_66060del (p.Leu22020fs)
|
|
|
NM_001267550.2(TTN):c.66159T>A (p.Tyr22053Ter)
|
|
|
NM_001267550.2(TTN):c.66176dup (p.Cys22059fs)
|
|
|
NM_001267550.2(TTN):c.66464-2A>G
|
rs1575921187
|
|
NM_001267550.2(TTN):c.66679C>T (p.Gln22227Ter)
|
|
|
NM_001267550.2(TTN):c.66846T>G (p.Tyr22282Ter)
|
|
|
NM_001267550.2(TTN):c.66968del (p.Asn22323fs)
|
rs2154176360
|
|
NM_001267550.2(TTN):c.67028dup (p.Glu22344fs)
|
|
|
NM_001267550.2(TTN):c.67609del (p.Ile22537fs)
|
rs1553622205
|
|
NM_001267550.2(TTN):c.67637-1G>C
|
rs886038831
|
|
NM_001267550.2(TTN):c.6820C>T (p.Gln2274Ter)
|
rs145649088
|
|
NM_001267550.2(TTN):c.68308del (p.Thr22770fs)
|
rs1064796112
|
|
NM_001267550.2(TTN):c.68350G>T (p.Glu22784Ter)
|
|
|
NM_001267550.2(TTN):c.68370G>A (p.Trp22790Ter)
|
|
|
NM_001267550.2(TTN):c.68641C>T (p.Arg22881Ter)
|
rs1213930919
|
|
NM_001267550.2(TTN):c.68746_68749dup (p.Arg22917delinsAsnTer)
|
|
|
NM_001267550.2(TTN):c.68862dup (p.Gly22955fs)
|
|
|
NM_001267550.2(TTN):c.68993C>A (p.Ser22998Ter)
|
|
|
NM_001267550.2(TTN):c.69078del (p.Phe23026fs)
|
|
|
NM_001267550.2(TTN):c.69131del (p.Pro23044fs)
|
rs2154173603
|
|
NM_001267550.2(TTN):c.69131dup (p.Gly23045fs)
|
|
|
NM_001267550.2(TTN):c.69244del (p.Thr23082fs)
|
|
|
NM_001267550.2(TTN):c.69422_69423delinsAAAAGGA (p.Gly23141fs)
|
|
|
NM_001267550.2(TTN):c.69422_69426delinsAAAAGGACCC (p.Gly23141fs)
|
rs2046539116
|
|
NM_001267550.2(TTN):c.69458_69461dup (p.Asn23154fs)
|
rs397517679
|
|
NM_001267550.2(TTN):c.69536_69543dup (p.Lys23182fs)
|
|
|
NM_001267550.2(TTN):c.69553C>T (p.Arg23185Ter)
|
rs878854328
|
|
NM_001267550.2(TTN):c.69571_69592dup (p.Arg23198fs)
|
rs2046499843
|
|
NM_001267550.2(TTN):c.69999del (p.Glu23334fs)
|
|
|
NM_001267550.2(TTN):c.70000del (p.Glu23334fs)
|
rs1131691811
|
|
NM_001267550.2(TTN):c.70137_70138delinsTTCAGGTTG (p.Lys23380delinsSerGlyTer)
|
|
|
NM_001267550.2(TTN):c.70162C>T (p.Arg23388Ter)
|
rs781540455
|
|
NM_001267550.2(TTN):c.70210_70223delinsTTTACTCTTC (p.Glu23404fs)
|
rs1553614347
|
|
NM_001267550.2(TTN):c.70378_70379del (p.Leu23460fs)
|
|
|
NM_001267550.2(TTN):c.70699dup (p.Tyr23567fs)
|
|
|
NM_001267550.2(TTN):c.70794del (p.Glu23599fs)
|
rs1553612904
|
|
NM_001267550.2(TTN):c.70890_70891del (p.Pro23631fs)
|
|
|
NM_001267550.2(TTN):c.70915delinsAGAAACTGACC (p.Tyr23639delinsArgAsnTer)
|
|
|
NM_001267550.2(TTN):c.71007del (p.Gly23670fs)
|
|
|
NM_001267550.2(TTN):c.71024_71027del (p.Lys23675fs)
|
rs1709577304
|
|
NM_001267550.2(TTN):c.71083G>T (p.Glu23695Ter)
|
rs1575796530
|
|
NM_001267550.2(TTN):c.71242del (p.Trp23748fs)
|
rs1060500514
|
|
NM_001267550.2(TTN):c.71421T>G (p.Tyr23807Ter)
|
|
|
NM_001267550.2(TTN):c.71491_71492insT (p.Gly23831fs)
|
|
|
NM_001267550.2(TTN):c.71634del (p.Ala23879fs)
|
rs727503565
|
|
NM_001267550.2(TTN):c.71661del (p.Lys23887fs)
|
|
|
NM_001267550.2(TTN):c.71685_71686insAAATA (p.Ala23896delinsLysTer)
|
rs1709360511
|
|
NM_001267550.2(TTN):c.72088A>T (p.Lys24030Ter)
|
rs1709195189
|
|
NM_001267550.2(TTN):c.72130_72133del (p.Gly24044fs)
|
rs2154171220
|
|
NM_001267550.2(TTN):c.72613del (p.Val24205fs)
|
rs1708996209
|
|
NM_001267550.2(TTN):c.72632C>G (p.Ser24211Ter)
|
|
|
NM_001267550.2(TTN):c.72645delinsCTGCAA (p.Ala24216fs)
|
rs1553609137
|
|
NM_001267550.2(TTN):c.72828_72831dup (p.Thr24278fs)
|
rs751319893
|
|
NM_001267550.2(TTN):c.72835_72838dup (p.Leu24280Ter)
|
|
|
NM_001267550.2(TTN):c.73200T>A (p.Tyr24400Ter)
|
|
|
NM_001267550.2(TTN):c.73324_73331dup (p.Cys24444fs)
|
|
|
NM_001267550.2(TTN):c.73385_73386delinsC (p.Trp24462fs)
|
|
|
NM_001267550.2(TTN):c.73469dup (p.Asn24490fs)
|
|
|
NM_001267550.2(TTN):c.73508del (p.Asn24503fs)
|
rs886038839
|
|
NM_001267550.2(TTN):c.7365_7374del (p.Asn2455fs)
|
rs794729397
|
|
NM_001267550.2(TTN):c.73939C>T (p.Arg24647Ter)
|
rs2154169928
|
|
NM_001267550.2(TTN):c.74338C>T (p.Arg24780Ter)
|
rs794729285
|
|
NM_001267550.2(TTN):c.74368_74372del (p.Lys24789_Leu24790insTer)
|
|
|
NM_001267550.2(TTN):c.74381_74382del (p.Ala24794fs)
|
|
|
NM_001267550.2(TTN):c.74608del (p.Ala24870fs)
|
rs878854332
|
|
NM_001267550.2(TTN):c.74865G>A (p.Trp24955Ter)
|
|
|
NM_001267550.2(TTN):c.74901del (p.Lys24967fs)
|
|
|
NM_001267550.2(TTN):c.7498C>T (p.Gln2500Ter)
|
rs1561253718
|
|
NM_001267550.2(TTN):c.75138_75141del (p.Lys25046fs)
|
rs794729340
|
|
NM_001267550.2(TTN):c.75250C>T (p.Arg25084Ter)
|
rs794729286
|
|
NM_001267550.2(TTN):c.75328C>T (p.Arg25110Ter)
|
rs794729382
|
|
NM_001267550.2(TTN):c.75468_75469delinsCT (p.Arg25157Ter)
|
|
|
NM_001267550.2(TTN):c.75479_75482del (p.Ile25160fs)
|
rs1553603364
|
|
NM_001267550.2(TTN):c.75507_75508del (p.Ser25170fs)
|
|
|
NM_001267550.2(TTN):c.75542_75554del (p.Asn25181fs)
|
|
|
NM_001267550.2(TTN):c.75568del (p.Ala25190fs)
|
|
|
NM_001267550.2(TTN):c.7557del (p.Gly2520fs)
|
|
|
NM_001267550.2(TTN):c.75633_75636dup (p.Val25213fs)
|
rs1553603036
|
|
NM_001267550.2(TTN):c.75663del (p.Lys25221fs)
|
rs1131691542
|
|
NM_001267550.2(TTN):c.75974G>A (p.Trp25325Ter)
|
rs1553602546
|
|
NM_001267550.2(TTN):c.76238_76239del (p.Lys25413fs)
|
|
|
NM_001267550.2(TTN):c.76240dup (p.Val25414fs)
|
rs1707514832
|
|
NM_001267550.2(TTN):c.76293T>G (p.Tyr25431Ter)
|
|
|
NM_001267550.2(TTN):c.76342_76345dup (p.Val25449fs)
|
rs2154168044
|
|
NM_001267550.2(TTN):c.76383_76386del (p.Asn25462fs)
|
rs869312078
|
|
NM_001267550.2(TTN):c.76401del (p.Glu25467_Val25468insTer)
|
|
|
NM_001267550.2(TTN):c.76403del (p.Val25468fs)
|
|
|
NM_001267550.2(TTN):c.76446_76447del (p.Ala25483fs)
|
rs1707425522
|
|
NM_001267550.2(TTN):c.76507del (p.Glu25503fs)
|
rs2154167928
|
|
NM_001267550.2(TTN):c.76634del (p.Gly25545fs)
|
|
|
NM_001267550.2(TTN):c.76717C>T (p.Arg25573Ter)
|
rs767450912
|
|
NM_001267550.2(TTN):c.76779del (p.Phe25593fs)
|
|
|
NM_001267550.2(TTN):c.76940C>G (p.Ser25647Ter)
|
|
|
NM_001267550.2(TTN):c.76953del (p.Val25651_Val25652insTer)
|
|
|
NM_001267550.2(TTN):c.76990C>T (p.Gln25664Ter)
|
|
|
NM_001267550.2(TTN):c.77100dup (p.Pro25701fs)
|
rs794729343
|
|
NM_001267550.2(TTN):c.77120_77121del (p.Val25707fs)
|
|
|
NM_001267550.2(TTN):c.77183del (p.Ser25728fs)
|
|
|
NM_001267550.2(TTN):c.77227G>T (p.Glu25743Ter)
|
rs765997807
|
|
NM_001267550.2(TTN):c.77230A>T (p.Lys25744Ter)
|
|
|
NM_001267550.2(TTN):c.77237C>A (p.Ser25746Ter)
|
|
|
NM_001267550.2(TTN):c.77437C>T (p.Gln25813Ter)
|
rs794729287
|
|
NM_001267550.2(TTN):c.77493G>A (p.Trp25831Ter)
|
|
|
NM_001267550.2(TTN):c.77546C>A (p.Ser25849Ter)
|
|
|
NM_001267550.2(TTN):c.77646_77662delinsAGA (p.Ile25883fs)
|
rs794729345
|
|
NM_001267550.2(TTN):c.7766del (p.Lys2588_Leu2589insTer)
|
|
|
NM_001267550.2(TTN):c.77884del (p.Gln25962fs)
|
|
|
NM_001267550.2(TTN):c.77933_77951del (p.Glu25978fs)
|
rs1553597801
|
|
NM_001267550.2(TTN):c.78197dup (p.Tyr26066Ter)
|
rs1553596594
|
|
NM_001267550.2(TTN):c.78348dup (p.Gly26117fs)
|
|
|
NM_001267550.2(TTN):c.78404G>A (p.Trp26135Ter)
|
rs1064793668
|
|
NM_001267550.2(TTN):c.78425del (p.Asn26142fs)
|
|
|
NM_001267550.2(TTN):c.78489dup (p.Ile26164fs)
|
|
|
NM_001267550.2(TTN):c.78563_78566dup (p.Glu26189delinsAspTer)
|
|
|
NM_001267550.2(TTN):c.78588_78624dup (p.Glu26209fs)
|
rs1706342425
|
|
NM_001267550.2(TTN):c.78749del (p.Leu26250fs)
|
rs1064793285
|
|
NM_001267550.2(TTN):c.79275_79276del (p.Asp26427fs)
|
|
|
NM_001267550.2(TTN):c.79294C>T (p.Arg26432Ter)
|
rs774411587
|
|
NM_001267550.2(TTN):c.79447dup (p.Asp26483fs)
|
rs886039211
|
|
NM_001267550.2(TTN):c.79603C>T (p.Gln26535Ter)
|
rs1064793911
|
|
NM_001267550.2(TTN):c.79712T>G (p.Leu26571Ter)
|
|
|
NM_001267550.2(TTN):c.79717G>T (p.Glu26573Ter)
|
rs1705879851
|
|
NM_001267550.2(TTN):c.79780del (p.Asp26595fs)
|
|
|
NM_001267550.2(TTN):c.79797_79822dup (p.Gly26608delinsGluLysGluLeuLeuTer)
|
rs2154165475
|
|
NM_001267550.2(TTN):c.80174_80202dup (p.Ser26735delinsGlnProGluLysArgMetLeuMetTer)
|
rs2154165199
|
|
NM_001267550.2(TTN):c.80328del (p.Ala26777fs)
|
|
|
NM_001267550.2(TTN):c.80365_80432del (p.Leu26789fs)
|
rs1575674631
|
|
NM_001267550.2(TTN):c.80371dup (p.Asp26791fs)
|
|
|
NM_001267550.2(TTN):c.80380C>T (p.Gln26794Ter)
|
rs2154165062
|
|
NM_001267550.2(TTN):c.80584del (p.Ser26862fs)
|
rs794729348
|
|
NM_001267550.2(TTN):c.80651T>A (p.Leu26884Ter)
|
|
|
NM_001267550.2(TTN):c.80850C>G (p.Tyr26950Ter)
|
rs794729291
|
|
NM_001267550.2(TTN):c.80855_80856dup (p.Thr26953Ter)
|
|
|
NM_001267550.2(TTN):c.80950G>T (p.Glu26984Ter)
|
rs1060500562
|
|
NM_001267550.2(TTN):c.81126del (p.Glu27042fs)
|
rs1553579429
|
|
NM_001267550.2(TTN):c.81159T>A (p.Tyr27053Ter)
|
|
|
NM_001267550.2(TTN):c.81202del (p.Tyr27068fs)
|
rs794729394
|
|
NM_001267550.2(TTN):c.81243_81261del (p.Thr27082fs)
|
rs749610641
|
|
NM_001267550.2(TTN):c.81340_81344del (p.Lys27114fs)
|
rs886038928
|
|
NM_001267550.2(TTN):c.81522_81529del (p.Pro27174_Gly27175insTer)
|
|
|
NM_001267550.2(TTN):c.81618_86068del (p.Val27207fs)
|
|
|
NM_001267550.2(TTN):c.81758del (p.Asn27253fs)
|
rs2154162603
|
|
NM_001267550.2(TTN):c.82184T>A (p.Leu27395Ter)
|
|
|
NM_001267550.2(TTN):c.82186dup (p.Gln27396fs)
|
|
|
NM_001267550.2(TTN):c.82273C>T (p.Gln27425Ter)
|
rs371332011
|
|
NM_001267550.2(TTN):c.82310_82311del (p.Gly27437fs)
|
|
|
NM_001267550.2(TTN):c.82401T>G (p.Tyr27467Ter)
|
|
|
NM_001267550.2(TTN):c.82470G>A (p.Trp27490Ter)
|
|
|
NM_001267550.2(TTN):c.82594dup (p.Thr27532fs)
|
rs1064795407
|
|
NM_001267550.2(TTN):c.82639G>T (p.Glu27547Ter)
|
rs779874042
|
|
NM_001267550.2(TTN):c.82657G>T (p.Gly27553Ter)
|
rs869178171
|
|
NM_001267550.2(TTN):c.82659del (p.Glu27554fs)
|
|
|
NM_001267550.2(TTN):c.82888C>T (p.Gln27630Ter)
|
|
|
NM_001267550.2(TTN):c.8307_8308del (p.Ala2770fs)
|
rs869312037
|
|
NM_001267550.2(TTN):c.83104C>T (p.Arg27702Ter)
|
rs1559314812
|
|
NM_001267550.2(TTN):c.83284A>T (p.Arg27762Ter)
|
|
|
NM_001267550.2(TTN):c.83747_83751del (p.Val27916fs)
|
|
|
NM_001267550.2(TTN):c.83830_83836delinsTCACT (p.Arg27944fs)
|
rs1575633082
|
|
NM_001267550.2(TTN):c.83935C>T (p.Gln27979Ter)
|
|
|
NM_001267550.2(TTN):c.84109_84110del (p.Val28037fs)
|
rs2154160413
|
|
NM_001267550.2(TTN):c.84296_84297del (p.Ser28099fs)
|
rs1553565463
|
|
NM_001267550.2(TTN):c.8442del (p.Phe2814fs)
|
|
|
NM_001267550.2(TTN):c.84476del (p.Gly28159fs)
|
rs1553564694
|
|
NM_001267550.2(TTN):c.84557dup (p.Ile28187fs)
|
rs1553564589
|
|
NM_001267550.2(TTN):c.84583G>T (p.Glu28195Ter)
|
|
|
NM_001267550.2(TTN):c.84643A>T (p.Lys28215Ter)
|
rs2154159715
|
|
NM_001267550.2(TTN):c.84819del (p.Trp28273fs)
|
rs2154159514
|
|
NM_001267550.2(TTN):c.85150C>T (p.Arg28384Ter)
|
rs1703437679
|
|
NM_001267550.2(TTN):c.85408_85409del (p.Leu28470fs)
|
rs2154159007
|
|
NM_001267550.2(TTN):c.85640_85652del (p.Pro28547fs)
|
rs762286447
|
|
NM_001267550.2(TTN):c.85707_85708del (p.Cys28570fs)
|
rs1219440385
|
|
NM_001267550.2(TTN):c.86105_86108del (p.Ile28702fs)
|
|
|
NM_001267550.2(TTN):c.86267_86268del (p.Ile28756fs)
|
|
|
NM_001267550.2(TTN):c.86413_86417delinsATGG (p.Asp28805fs)
|
|
|
NM_001267550.2(TTN):c.86426C>G (p.Ser28809Ter)
|
rs1553560951
|
|
NM_001267550.2(TTN):c.86620G>T (p.Gly28874Ter)
|
rs765852996
|
|
NM_001267550.2(TTN):c.86799_86802del (p.Glu28935_Gly28936insTer)
|
rs727504856
|
|
NM_001267550.2(TTN):c.86992del (p.Thr28998fs)
|
|
|
NM_001267550.2(TTN):c.87295_87296insT (p.Asn29099fs)
|
|
|
NM_001267550.2(TTN):c.87296dup (p.Asn29099fs)
|
|
|
NM_001267550.2(TTN):c.87381_87424dup (p.Thr29142delinsLysLeuSerLeuThrLeuLeuCysTer)
|
|
|
NM_001267550.2(TTN):c.87515dup (p.Asn29172fs)
|
|
|
NM_001267550.2(TTN):c.87733dup (p.Trp29245fs)
|
rs1553553671
|
|
NM_001267550.2(TTN):c.87734G>A (p.Trp29245Ter)
|
rs1701973330
|
|
NM_001267550.2(TTN):c.87834_87837del (p.Asp29278fs)
|
|
|
NM_001267550.2(TTN):c.87835del (p.Arg29279fs)
|
rs2154155616
|
|
NM_001267550.2(TTN):c.87841_87842del (p.Ser29281fs)
|
|
|
NM_001267550.2(TTN):c.87939T>G (p.Tyr29313Ter)
|
rs200314496
|
|
NM_001267550.2(TTN):c.88000del (p.Asp29334fs)
|
|
|
NM_001267550.2(TTN):c.88091_88094del (p.Gly29364fs)
|
rs2154155280
|
|
NM_001267550.2(TTN):c.88184del (p.Phe29395fs)
|
rs1553551651
|
|
NM_001267550.2(TTN):c.88422G>A (p.Trp29474Ter)
|
rs1553547657
|
|
NM_001267550.2(TTN):c.88636_88637del (p.Val29546fs)
|
|
|
NM_001267550.2(TTN):c.88703_88704del (p.His29568fs)
|
rs794729360
|
|
NM_001267550.2(TTN):c.88825C>T (p.Arg29609Ter)
|
rs766450773
|
|
NM_001267550.2(TTN):c.8884_8898delinsTAAATG (p.Ala2962_Val2966delinsTer)
|
|
|
NM_001267550.2(TTN):c.88852_88855del (p.Glu29618fs)
|
rs2154152955
|
|
NM_001267550.2(TTN):c.89017C>T (p.Arg29673Ter)
|
rs886038916
|
|
NM_001267550.2(TTN):c.89178C>G (p.Tyr29726Ter)
|
|
|
NM_001267550.2(TTN):c.89222_89226del (p.Ile29741fs)
|
rs1575534947
|
|
NM_001267550.2(TTN):c.89288del (p.Gly29763fs)
|
rs1575534208
|
|
NM_001267550.2(TTN):c.89839C>T (p.Arg29947Ter)
|
rs727505224
|
|
NM_001267550.2(TTN):c.90286_90292del (p.Gln30096fs)
|
|
|
NM_001267550.2(TTN):c.9047del (p.Met3016fs)
|
|
|
NM_001267550.2(TTN):c.90628del (p.Val30210fs)
|
rs2154151163
|
|
NM_001267550.2(TTN):c.90721dup (p.Ser30241fs)
|
|
|
NM_001267550.2(TTN):c.90760G>T (p.Gly30254Ter)
|
rs1060500495
|
|
NM_001267550.2(TTN):c.90827dup (p.Cys30276fs)
|
|
|
NM_001267550.2(TTN):c.90900_90901del (p.Arg30300fs)
|
|
|
NM_001267550.2(TTN):c.90935del (p.Val30312fs)
|
|
|
NM_001267550.2(TTN):c.91113G>A (p.Trp30371Ter)
|
rs1553538469
|
|
NM_001267550.2(TTN):c.91192del (p.Arg30398fs)
|
|
|
NM_001267550.2(TTN):c.91352dup (p.Ser30452fs)
|
|
|
NM_001267550.2(TTN):c.91476T>G (p.Tyr30492Ter)
|
rs727504646
|
|
NM_001267550.2(TTN):c.91544_91554del (p.Ile30515fs)
|
rs1559192617
|
|
NM_001267550.2(TTN):c.91565-1G>A
|
rs775248181
|
|
NM_001267550.2(TTN):c.91669C>T (p.Arg30557Ter)
|
rs1553536305
|
|
NM_001267550.2(TTN):c.91715dup (p.Asn30572fs)
|
rs779129892
|
|
NM_001267550.2(TTN):c.91784_91790delinsAC (p.Gly30595fs)
|
|
|
NM_001267550.2(TTN):c.91859del (p.Pro30620fs)
|
|
|
NM_001267550.2(TTN):c.91875del (p.Pro30626fs)
|
rs757451467
|
|
NM_001267550.2(TTN):c.91920G>A (p.Trp30640Ter)
|
rs1698600051
|
|
NM_001267550.2(TTN):c.92017A>T (p.Lys30673Ter)
|
rs2154148429
|
|
NM_001267550.2(TTN):c.92284_92288dup (p.Ser30763fs)
|
rs756367933
|
|
NM_001267550.2(TTN):c.92298G>A (p.Trp30766Ter)
|
|
|
NM_001267550.2(TTN):c.92404G>T (p.Gly30802Ter)
|
|
|
NM_001267550.2(TTN):c.92568T>A (p.Tyr30856Ter)
|
|
|
NM_001267550.2(TTN):c.92620G>T (p.Glu30874Ter)
|
|
|
NM_001267550.2(TTN):c.92631dup (p.Lys30878fs)
|
rs886039145
|
|
NM_001267550.2(TTN):c.92652_92659del (p.Asp30885fs)
|
rs1559175090
|
|
NM_001267550.2(TTN):c.92659C>T (p.Gln30887Ter)
|
rs1305222903
|
|
NM_001267550.2(TTN):c.92797C>T (p.Gln30933Ter)
|
rs1553532356
|
|
NM_001267550.2(TTN):c.93034A>T (p.Lys31012Ter)
|
rs2154147529
|
|
NM_001267550.2(TTN):c.93337C>T (p.Gln31113Ter)
|
rs1454572839
|
|
NM_001267550.2(TTN):c.93396_93400del (p.Ala31133_Trp31134insTer)
|
rs886044536
|
|
NM_001267550.2(TTN):c.93735del (p.Lys31246_Val31247insTer)
|
|
|
NM_001267550.2(TTN):c.9395del (p.Gly3132fs)
|
|
|
NM_001267550.2(TTN):c.94167del (p.Phe31389fs)
|
|
|
NM_001267550.2(TTN):c.94180delinsTCTAGCAG (p.Pro31394fs)
|
rs727503547
|
|
NM_001267550.2(TTN):c.94190C>A (p.Ser31397Ter)
|
|
|
NM_001267550.2(TTN):c.94291G>T (p.Glu31431Ter)
|
rs1697595705
|
|
NM_001267550.2(TTN):c.94298del (p.Tyr31433fs)
|
|
|
NM_001267550.2(TTN):c.94405A>T (p.Lys31469Ter)
|
rs1553524697
|
|
NM_001267550.2(TTN):c.94452T>G (p.Tyr31484Ter)
|
|
|
NM_001267550.2(TTN):c.94562C>G (p.Ser31521Ter)
|
|
|
NM_001267550.2(TTN):c.94816C>T (p.Arg31606Ter)
|
rs1060500435
|
|
NM_001267550.2(TTN):c.95023_95024del (p.Ile31675fs)
|
rs1697105934
|
|
NM_001267550.2(TTN):c.95266del (p.Trp31755_Val31756insTer)
|
rs2154145523
|
|
NM_001267550.2(TTN):c.95343del (p.Arg31781_Val31782insTer)
|
|
|
NM_001267550.2(TTN):c.95452_95453delinsATATGCCAT (p.Gly31818fs)
|
|
|
NM_001267550.2(TTN):c.9565C>T (p.Gln3189Ter)
|
|
|
NM_001267550.2(TTN):c.95829_95830insG (p.Tyr31944fs)
|
|
|
NM_001267550.2(TTN):c.95944del (p.Ser31982fs)
|
|
|
NM_001267550.2(TTN):c.96233_96236delinsCCT (p.Tyr32078fs)
|
rs1553518529
|
|
NM_001267550.2(TTN):c.96260_96279dup (p.Lys32094fs)
|
rs2154143867
|
|
NM_001267550.2(TTN):c.96477C>A (p.Cys32159Ter)
|
|
|
NM_001267550.2(TTN):c.96669G>A (p.Trp32223Ter)
|
rs2154143423
|
|
NM_001267550.2(TTN):c.96680_96684del (p.Leu32227fs)
|
|
|
NM_001267550.2(TTN):c.96682dup (p.Tyr32228fs)
|
rs2154143418
|
|
NM_001267550.2(TTN):c.96697C>T (p.Arg32233Ter)
|
rs781171206
|
|
NM_001267550.2(TTN):c.97129_97130dup (p.Leu32379fs)
|
rs748382770
|
|
NM_001267550.2(TTN):c.97212dup (p.Gly32405fs)
|
|
|
NM_001267550.2(TTN):c.97315C>T (p.Gln32439Ter)
|
rs767837705
|
|
NM_001267550.2(TTN):c.97405_97408del (p.Glu32469fs)
|
|
|
NM_001267550.2(TTN):c.97405_97410delinsAC (p.Glu32469fs)
|
rs1553515430
|
|
NM_001267550.2(TTN):c.97492+1G>C
|
rs727505319
|
|
NM_001267550.2(TTN):c.97555_97558dup (p.Trp32520fs)
|
rs1575386270
|
|
NM_001267550.2(TTN):c.97647_97663dup (p.Thr32555delinsLysIleLysTyrLeuTer)
|
rs2154141588
|
|
NM_001267550.2(TTN):c.97653del (p.Val32552fs)
|
|
|
NM_001267550.2(TTN):c.97813C>T (p.Gln32605Ter)
|
rs1301441435
|
|
NM_001267550.2(TTN):c.97972C>T (p.Arg32658Ter)
|
|
|
NM_001267550.2(TTN):c.98072del (p.Gly32691fs)
|
|
|
NM_001267550.2(TTN):c.98074del (p.Thr32692fs)
|
|
|
NM_001267550.2(TTN):c.98134G>T (p.Glu32712Ter)
|
rs727504679
|
|
NM_001267550.2(TTN):c.98171_98174dup (p.Ile32726fs)
|
rs1275153634
|
|
NM_001267550.2(TTN):c.9829C>T (p.Gln3277Ter)
|
|
|
NM_001267550.2(TTN):c.98551C>T (p.Arg32851Ter)
|
rs553821887
|
|
NM_001267550.2(TTN):c.98628del (p.Phe32876fs)
|
|
|
NM_001267550.2(TTN):c.98923C>T (p.Gln32975Ter)
|
|
|
NM_001267550.2(TTN):c.98989+1G>A
|
rs112240298
|
|
NM_001267550.2(TTN):c.99023_99026del (p.Leu33008fs)
|
|
|
NM_001267550.2(TTN):c.99034A>T (p.Lys33012Ter)
|
rs771511344
|
|
NM_001267550.2(TTN):c.99081dup (p.Lys33028Ter)
|
|
|
NM_001267550.2(TTN):c.99425_99428del (p.Ile33142fs)
|
|
|
NM_001267550.2(TTN):c.99496G>T (p.Glu33166Ter)
|
rs886038825
|
|
NM_001267550.2(TTN):c.99571C>T (p.Gln33191Ter)
|
|
|
NM_001267550.2(TTN):c.99719C>G (p.Ser33240Ter)
|
rs794727539
|
|
NM_001267550.2(TTN):c.9979_9980del (p.Val3328fs)
|
|
|
NM_001267550.2(TTN):c.99859dup (p.Ile33287fs)
|
|
|
NM_001271.4(CHD2):c.1532T>C (p.Met511Thr)
|
rs1555440555
|
|
NM_001271.4(CHD2):c.1622C>G (p.Pro541Arg)
|
rs1555440561
|
|
NM_001271.4(CHD2):c.2636C>T (p.Ala879Val)
|
rs1555442813
|
|
NM_001271.4(CHD2):c.3221G>A (p.Arg1074Gln)
|
rs1567152270
|
|
NM_001271.4(CHD2):c.3413+1G>C
|
|
|
NM_001271.4(CHD2):c.4602G>T (p.Trp1534Cys)
|
rs1555445563
|
|
NM_001271.4(CHD2):c.693-1G>A
|
rs2053387699
|
|
NM_001271696.3(ABCB7):c.2044G>A (p.Gly682Ser)
|
rs797044558
|
|
NM_001273.5(CHD4):c.3659A>C (p.Lys1220Thr)
|
rs1377989582
|
|
NM_001273.5(CHD4):c.4909+1G>A
|
|
|
NM_001276345.2(TNNT2):c.421C>T (p.Arg141Trp)
|
rs74315380
|
|
NM_001276345.2(TNNT2):c.566C>T (p.Ser189Phe)
|
rs727504246
|
|
NM_001276345.2(TNNT2):c.837C>A (p.Asn279Lys)
|
rs376923877
|
|
NM_001276345.2(TNNT2):c.851+1G>A
|
rs111377893
|
|
NM_001277115.2(DNAH11):c.10166-1G>C
|
|
|
NM_001277115.2(DNAH11):c.11203-1G>C
|
rs1783074775
|
|
NM_001277115.2(DNAH11):c.2274+1del
|
|
|
NM_001277115.2(DNAH11):c.4817+1_4817+16del
|
|
|
NM_001277115.2(DNAH11):c.7812-2A>G
|
|
|
NM_001278116.2(L1CAM):c.1A>G (p.Met1Val)
|
|
|
NM_001278116.2(L1CAM):c.3581C>T (p.Ser1194Leu)
|
rs137852522
|
|
NM_001278116.2(L1CAM):c.524-2A>G
|
rs2064763561
|
|
NM_001278716.2(FBXL4):c.1740_1742del (p.Leu581del)
|
rs1770579596
|
|
NM_001282531.3(ADNP):c.201G>C (p.Gln67His)
|
rs1555812161
|
|
NM_001282531.3(ADNP):c.2865_2868del (p.Ser955fs)
|
rs1980777288
|
|
NM_001282534.2(KCNK9):c.392G>A (p.Arg131His)
|
rs867543866
|
|
NM_001290223.2(DOCK1):c.2053dup (p.Glu685fs)
|
rs767858333
|
|
NM_001291415.2(KDM6A):c.2989-2A>G
|
rs2045232957
|
|
NM_001298.3(CNGA3):c.667C>G (p.Arg223Gly)
|
rs138958917
|
|
NM_001312909.2(FAM111A):c.1706G>A (p.Arg569His)
|
rs587777011
|
|
NM_001317778.2(SFTPC):c.202G>T (p.Val68Phe)
|
rs2131816806
|
|
NM_001317778.2(SFTPC):c.334G>C (p.Ala112Pro)
|
|
|
NM_001317778.2(SFTPC):c.337T>C (p.Tyr113His)
|
|
|
NM_001317778.2(SFTPC):c.397A>C (p.Ser133Arg)
|
rs1554476282
|
|
NM_001317778.2(SFTPC):c.435G>A (p.Gln145=)
|
|
|
NM_001317778.2(SFTPC):c.476_477del (p.Glu159fs)
|
|
|
NM_001318852.2(MAPK8IP3):c.65del (p.Gly22fs)
|
rs1567128142
|
|
NM_001320.7(CSNK2B):c.73-2A>G
|
rs1554169967
|
|
NM_001323289.2(CDKL5):c.656A>C (p.Gln219Pro)
|
rs786204963
|
|
NM_001323289.2(CDKL5):c.689T>A (p.Leu230His)
|
rs1925702601
|
|
NM_001323289.2(CDKL5):c.745-2A>G
|
|
|
NM_001329943.3(KIAA0586):c.38del (p.Lys13fs)
|
rs745949846
|
|
NM_001330260.2(SCN8A):c.1228G>A (p.Val410Met)
|
|
|
NM_001330260.2(SCN8A):c.2300C>T (p.Thr767Ile)
|
rs797045013
|
|
NM_001330260.2(SCN8A):c.2921C>G (p.Ala974Gly)
|
rs1942877839
|
|
NM_001330260.2(SCN8A):c.3967G>A (p.Ala1323Thr)
|
rs794727361
|
|
NM_001330260.2(SCN8A):c.5279T>C (p.Met1760Thr)
|
rs1555231012
|
|
NM_001332.4(CTNND2):c.121del (p.Asp41fs)
|
|
|
NM_001332.4(CTNND2):c.1629-2A>G
|
rs1554008611
|
|
NM_001347721.2(DYRK1A):c.476G>A (p.Gly159Asp)
|
rs1064796406
|
|
NM_001347721.2(DYRK1A):c.821T>G (p.Ile274Ser)
|
|
|
NM_001348716.2(KDM6B):c.138-1G>A
|
rs2078522740
|
|
NM_001348768.2(HECW2):c.3583G>C (p.Ala1195Pro)
|
rs1553635778
|
|
NM_001348768.2(HECW2):c.3989G>A (p.Arg1330Gln)
|
rs1553633403
|
|
NM_001348768.2(HECW2):c.4485G>T (p.Arg1495Ser)
|
rs774316240
|
|
NM_001348768.2(HECW2):c.4514G>C (p.Ser1505Thr)
|
rs1687461276
|
|
NM_001348768.2(HECW2):c.4714G>A (p.Glu1572Lys)
|
rs1553629086
|
|
NM_001348800.3(ZBTB20):c.1256dup (p.Gly420fs)
|
rs1553794464
|
|
NM_001348800.3(ZBTB20):c.1739G>T (p.Cys580Phe)
|
|
|
NM_001348800.3(ZBTB20):c.1811A>C (p.Lys604Thr)
|
rs483353069
|
|
NM_001348800.3(ZBTB20):c.1873A>G (p.Met625Val)
|
rs1064795382
|
|
NM_001348800.3(ZBTB20):c.1885A>G (p.Thr629Ala)
|
rs1553789264
|
|
NM_001352027.3(PHF21A):c.1995del (p.Ser666fs)
|
rs1554969688
|
|
NM_001353345.2(SETD1B):c.22dup (p.His8fs)
|
|
|
NM_001353345.2(SETD1B):c.5704C>T (p.Arg1902Cys)
|
rs1876922399
|
|
NM_001353921.2(ARHGEF9):c.1033C>T (p.Arg345Trp)
|
rs869312941
|
|
NM_001353921.2(ARHGEF9):c.889C>T (p.Arg297Cys)
|
rs2050115619
|
|
NM_001353921.2(ARHGEF9):c.890G>A (p.Arg297His)
|
|
|
NM_001354712.2(THRB):c.959G>A (p.Arg320His)
|
rs121918693
|
|
NM_001354712.2(THRB):c.962A>G (p.Tyr321Cys)
|
rs1559401356
|
|
NM_001356.5(DDX3X):c.1415A>C (p.His472Pro)
|
rs2063923221
|
|
NM_001356.5(DDX3X):c.1415A>G (p.His472Arg)
|
rs2063923221
|
|
NM_001356.5(DDX3X):c.1462C>T (p.Arg488Cys)
|
rs796052234
|
|
NM_001356.5(DDX3X):c.1538T>C (p.Val513Ala)
|
rs1569240261
|
|
NM_001356.5(DDX3X):c.1839del (p.Phe613fs)
|
rs2063940433
|
|
NM_001356.5(DDX3X):c.1859dup (p.Ser620fs)
|
rs2063941013
|
|
NM_001356.5(DDX3X):c.536_543+5inv
|
|
|
NM_001356.5(DDX3X):c.878C>T (p.Ser293Phe)
|
|
|
NM_001356.5(DDX3X):c.976C>T (p.Arg326Cys)
|
rs1555953548
|
|
NM_001360.3(DHCR7):c.1190C>T (p.Ser397Leu)
|
rs773134475
|
|
NM_001360.3(DHCR7):c.852C>A (p.Phe284Leu)
|
rs184297154
|
|
NM_001360016.2(G6PD):c.1089C>G (p.Asn363Lys)
|
rs137852329
|
|
NM_001363.5(DKC1):c.1226C>T (p.Pro409Leu)
|
rs121912289
|
|
NM_001363.5(DKC1):c.191T>G (p.Val64Gly)
|
rs2071739379
|
|
NM_001363118.2(SLC52A2):c.1201_1202delinsC (p.Gly401fs)
|
|
|
NM_001365902.3(NFIX):c.28-16G>A
|
|
|
NM_001367561.1(DOCK7):c.3936G>A (p.Thr1312=)
|
rs1553163123
|
|
NM_001367624.2(ZNF469):c.6297_6298del (p.Gly2100_Asp2101insTer)
|
|
|
NM_001368809.2(AMPD2):c.1070A>G (p.Asn357Ser)
|
rs869312928
|
|
NM_001368809.2(AMPD2):c.971G>C (p.Arg324Pro)
|
rs746332433
|
|
NM_001369.3(DNAH5):c.57_57+1delinsAA
|
rs1560984816
|
|
NM_001369.3(DNAH5):c.7407+1G>A
|
rs749711805
|
|
NM_001369.3(DNAH5):c.7610-2A>G
|
|
|
NM_001369.3(DNAH5):c.8010+1G>A
|
|
|
NM_001369.3(DNAH5):c.8396G>C (p.Arg2799Pro)
|
|
|
NM_001369268.1(ACAN):c.6127G>T (p.Glu2043Ter)
|
rs267604368
|
|
NM_001370259.2(MEN1):c.1013T>C (p.Leu338Pro)
|
rs1114167480
|
|
NM_001370259.2(MEN1):c.1049+1G>C
|
rs1114167489
|
|
NM_001370259.2(MEN1):c.1051T>A (p.Tyr351Asn)
|
|
|
NM_001370259.2(MEN1):c.1064G>A (p.Arg355Gln)
|
rs1114167474
|
|
NM_001370259.2(MEN1):c.108_122del (p.Leu37_Leu41del)
|
rs1555166695
|
|
NM_001370259.2(MEN1):c.1102G>A (p.Ala368Thr)
|
rs1114167473
|
|
NM_001370259.2(MEN1):c.1102G>C (p.Ala368Pro)
|
rs1114167473
|
|
NM_001370259.2(MEN1):c.1127T>C (p.Leu376Pro)
|
rs1114167471
|
|
NM_001370259.2(MEN1):c.112T>C (p.Ser38Pro)
|
|
|
NM_001370259.2(MEN1):c.124G>C (p.Gly42Arg)
|
|
|
NM_001370259.2(MEN1):c.1258A>T (p.Ile420Phe)
|
rs1114167526
|
|
NM_001370259.2(MEN1):c.1259T>G (p.Ile420Ser)
|
rs1114167539
|
|
NM_001370259.2(MEN1):c.1262G>A (p.Cys421Tyr)
|
rs386134249
|
|
NM_001370259.2(MEN1):c.1267T>C (p.Trp423Arg)
|
rs1555164270
|
|
NM_001370259.2(MEN1):c.1279A>C (p.Ser427Arg)
|
rs1555164245
|
|
NM_001370259.2(MEN1):c.1281T>A (p.Ser427Arg)
|
rs1114167528
|
|
NM_001370259.2(MEN1):c.1350G>C (p.Gln450His)
|
rs1592636161
|
|
NM_001370259.2(MEN1):c.1351-2A>C
|
rs1060499986
|
|
NM_001370259.2(MEN1):c.1355G>T (p.Arg452Leu)
|
|
|
NM_001370259.2(MEN1):c.135G>C (p.Glu45Asp)
|
rs778670301
|
|
NM_001370259.2(MEN1):c.143T>C (p.Leu48Pro)
|
rs1592660057
|
|
NM_001370259.2(MEN1):c.1539del (p.Arg516fs)
|
rs1592631908
|
|
NM_001370259.2(MEN1):c.1664G>A (p.Ser555Asn)
|
rs863224527
|
|
NM_001370259.2(MEN1):c.1669A>G (p.Lys557Glu)
|
rs1114167517
|
|
NM_001370259.2(MEN1):c.1682T>G (p.Met561Arg)
|
|
|
NM_001370259.2(MEN1):c.1708_1728del (p.Ile570_Lys576del)
|
rs1555163115
|
|
NM_001370259.2(MEN1):c.1710del (p.Asn571fs)
|
|
|
NM_001370259.2(MEN1):c.1725del (p.Lys576fs)
|
rs1555163124
|
|
NM_001370259.2(MEN1):c.1730T>C (p.Leu577Pro)
|
rs794728634
|
|
NM_001370259.2(MEN1):c.249_266del (p.Ser84_Leu89del)
|
|
|
NM_001370259.2(MEN1):c.35C>G (p.Pro12Arg)
|
|
|
NM_001370259.2(MEN1):c.431T>G (p.Phe144Cys)
|
|
|
NM_001370259.2(MEN1):c.473C>A (p.Ala158Asp)
|
rs794728617
|
|
NM_001370259.2(MEN1):c.514G>T (p.Asp172Tyr)
|
rs1114167494
|
|
NM_001370259.2(MEN1):c.515A>T (p.Asp172Val)
|
rs794728618
|
|
NM_001370259.2(MEN1):c.530T>G (p.Leu177Arg)
|
|
|
NM_001370259.2(MEN1):c.541C>G (p.His181Asp)
|
|
|
NM_001370259.2(MEN1):c.542A>G (p.His181Arg)
|
rs1941861451
|
|
NM_001370259.2(MEN1):c.654G>T (p.Arg218=)
|
|
|
NM_001370259.2(MEN1):c.658T>C (p.Trp220Arg)
|
rs1085307971
|
|
NM_001370259.2(MEN1):c.662T>C (p.Leu221Pro)
|
rs2136143369
|
|
NM_001370259.2(MEN1):c.721T>C (p.Cys241Arg)
|
rs1592649108
|
|
NM_001370259.2(MEN1):c.722G>A (p.Cys241Tyr)
|
rs794728624
|
|
NM_001370259.2(MEN1):c.758C>T (p.Ser253Leu)
|
rs386134259
|
|
NM_001370259.2(MEN1):c.776T>C (p.Leu259Pro)
|
rs2136139920
|
|
NM_001370259.2(MEN1):c.788T>C (p.Leu263Pro)
|
rs1114167502
|
|
NM_001370259.2(MEN1):c.824+1G>C
|
rs1060499976
|
|
NM_001370259.2(MEN1):c.825-1G>A
|
rs1114167505
|
|
NM_001370259.2(MEN1):c.830C>A (p.Pro277His)
|
rs1060499973
|
|
NM_001370259.2(MEN1):c.841G>A (p.Gly281Arg)
|
rs1114167493
|
|
NM_001370259.2(MEN1):c.851C>T (p.Ala284Val)
|
|
|
NM_001370259.2(MEN1):c.912G>A (p.Lys304=)
|
rs1592646211
|
|
NM_001370259.2(MEN1):c.913-1G>A
|
rs1057518572
|
|
NM_001370259.2(MEN1):c.913-2A>G
|
rs1114167498
|
|
NM_001370259.2(MEN1):c.922T>C (p.Ser308Pro)
|
rs1064793169
|
|
NM_001370259.2(MEN1):c.949C>T (p.His317Tyr)
|
rs2136120898
|
|
NM_001370259.2(MEN1):c.950A>G (p.His317Arg)
|
rs1114167495
|
|
NM_001370259.2(MEN1):c.95C>G (p.Pro32Arg)
|
|
|
NM_001371596.2(MFSD8):c.554-2A>T
|
rs1560747815
|
|
NM_001371596.2(MFSD8):c.63-2A>G
|
rs757857101
|
|
NM_001371596.2(MFSD8):c.699-1G>C
|
rs1739594685
|
|
NM_001371596.2(MFSD8):c.754+1G>T
|
rs868732642
|
|
NM_001371727.1(GABRB2):c.238G>C (p.Asp80His)
|
|
|
NM_001371727.1(GABRB2):c.626A>C (p.Gln209Pro)
|
rs1554094278
|
|
NM_001371904.1(APOA5):c.154G>T (p.Glu52Ter)
|
|
|
NM_001371904.1(APOA5):c.466G>T (p.Glu156Ter)
|
|
|
NM_001371904.1(APOA5):c.494dup (p.Val166fs)
|
|
|
NM_001371904.1(APOA5):c.775A>T (p.Arg259Ter)
|
|
|
NM_001371904.1(APOA5):c.990_993del (p.Asp332fs)
|
rs774150500
|
|
NM_001372044.2(SHANK3):c.4765dup (p.Glu1589fs)
|
rs1569116595
|
|
NM_001372044.2(SHANK3):c.5362dup (p.Thr1788fs)
|
rs2083362624
|
|
NM_001372066.1(TFAP2A):c.1156C>T (p.His386Tyr)
|
|
|
NM_001372066.1(TFAP2A):c.767G>A (p.Arg256Gln)
|
rs151344530
|
|
NM_001372066.1(TFAP2A):c.771-2_771-1del
|
|
|
NM_001374353.1(GLI2):c.3452_3453del (p.Gln1151fs)
|
|
|
NM_001374353.1(GLI2):c.3638del (p.Ala1213fs)
|
rs1553479405
|
|
NM_001374736.1(DST):c.17680+1G>A
|
|
|
NM_001374828.1(ARID1B):c.4479+5G>A
|
|
|
NM_001374828.1(ARID1B):c.6377del (p.Lys2126fs)
|
|
|
NM_001374828.1(ARID1B):c.6599C>A (p.Ser2200Ter)
|
rs1554237979
|
|
NM_001375380.1(EBF3):c.196A>G (p.Asn66Asp)
|
rs1057519518
|
|
NM_001375380.1(EBF3):c.386G>C (p.Arg129Pro)
|
rs1859577030
|
|
NM_001375380.1(EBF3):c.422A>G (p.Tyr141Cys)
|
rs1057519519
|
|
NM_001375380.1(EBF3):c.490T>G (p.Cys164Gly)
|
rs1859111016
|
|
NM_001375380.1(EBF3):c.625C>T (p.Arg209Trp)
|
rs779003155
|
|
NM_001375380.1(EBF3):c.626G>A (p.Arg209Gln)
|
rs1131692261
|
|
NM_001375380.1(EBF3):c.686C>T (p.Ser229Leu)
|
rs1852552180
|
|
NM_001375380.1(EBF3):c.983T>A (p.Leu328His)
|
|
|
NM_001375905.1(SGMS2):c.148C>T (p.Arg50Ter)
|
rs1560667389
|
|
NM_001376.5(DYNC1H1):c.10051A>T (p.Ile3351Phe)
|
rs1567018763
|
|
NM_001376.5(DYNC1H1):c.11083C>T (p.Arg3695Trp)
|
|
|
NM_001376.5(DYNC1H1):c.4366G>A (p.Glu1456Lys)
|
|
|
NM_001376.5(DYNC1H1):c.5885G>A (p.Arg1962His)
|
rs1057518287
|
|
NM_001376.5(DYNC1H1):c.6268C>T (p.Leu2090Phe)
|
|
|
NM_001376.5(DYNC1H1):c.6989G>A (p.Gly2330Glu)
|
rs1555410010
|
|
NM_001376.5(DYNC1H1):c.751C>T (p.Arg251Cys)
|
rs879253979
|
|
NM_001377303.1(L3MBTL1):c.2041G>T (p.Glu681Ter)
|
rs2019606024
|
|
NM_001378183.1(PIEZO2):c.4163T>C (p.Leu1388Pro)
|
rs1555638058
|
|
NM_001378183.1(PIEZO2):c.4167+1G>C
|
rs1555638052
|
|
NM_001378452.1(ITPR1):c.1699T>C (p.Tyr567His)
|
rs1553681758
|
|
NM_001378452.1(ITPR1):c.1813C>T (p.Leu605Phe)
|
rs1064796252
|
|
NM_001378452.1(ITPR1):c.736G>A (p.Glu246Lys)
|
rs1553666546
|
|
NM_001378454.1(ALMS1):c.10214-2A>G
|
rs2104063527
|
|
NM_001378454.1(ALMS1):c.11547+1G>T
|
|
|
NM_001378454.1(ALMS1):c.1432+1G>T
|
rs1553401634
|
|
NM_001378454.1(ALMS1):c.1432+2_1432+15del
|
rs1203193062
|
|
NM_001378454.1(ALMS1):c.31G>T (p.Glu11Ter)
|
|
|
NM_001378454.1(ALMS1):c.451-2A>G
|
|
|
NM_001378615.1(CC2D2A):c.4497-2A>G
|
rs1553845569
|
|
NM_001379029.1(CERT1):c.404C>T (p.Ser135Phe)
|
rs1763619016
|
|
NM_001379110.1(SLC9A6):c.370-9_370-5del
|
rs796053290
|
|
NM_001379610.1(SPINK1):c.162del (p.Asn56fs)
|
|
|
NM_001379610.1(SPINK1):c.165del (p.Asn56fs)
|
rs1756441909
|
|
NM_001379610.1(SPINK1):c.55+1G>A
|
|
|
NM_001382241.1(TNPO2):c.466G>T (p.Asp156Tyr)
|
|
|
NM_001385012.1(NBEA):c.526+3A>G
|
|
|
NM_001386298.1(CIC):c.6764A>G (p.Asp2255Gly)
|
|
|
NM_001386298.1(CIC):c.6767+2T>C
|
rs1555773152
|
|
NM_001386393.1(PANK2):c.651+1G>C
|
rs1390184629
|
|
NM_001393504.1(MAST3):c.1738G>C (p.Val580Leu)
|
|
|
NM_001429.4(EP300):c.3502-2A>G
|
rs2059089321
|
|
NM_001429.4(EP300):c.4783T>G (p.Phe1595Val)
|
rs1057517732
|
|
NM_001429.4(EP300):c.6608dup (p.Gly2204fs)
|
rs2059215587
|
|
NM_001429.4(EP300):c.6986dup (p.Arg2330fs)
|
rs2059219404
|
|
NM_001429.4(EP300):c.7097del (p.Ser2366fs)
|
rs2059220495
|
|
NM_001458.5(FLNC):c.1549+2T>G
|
rs111806457
|
|
NM_001458.5(FLNC):c.1677-1G>C
|
|
|
NM_001458.5(FLNC):c.2550+2T>C
|
rs113972676
|
|
NM_001458.5(FLNC):c.2811+1G>A
|
|
|
NM_001458.5(FLNC):c.2930-1G>A
|
|
|
NM_001458.5(FLNC):c.4457-1G>T
|
|
|
NM_001458.5(FLNC):c.4952-2A>T
|
rs774945928
|
|
NM_001478.5(B4GALNT1):c.384-1G>A
|
|
|
NM_001492.6(GDF1):c.787_814del (p.Pro263fs)
|
rs1417119878
|
|
NM_001493.3(GDI1):c.819+1G>A
|
rs1557198821
|
|
NM_001613.4(ACTA2):c.115C>G (p.Arg39Gly)
|
rs112901682
|
|
NM_001613.4(ACTA2):c.116G>A (p.Arg39His)
|
rs794728021
|
|
NM_001613.4(ACTA2):c.146T>C (p.Met49Thr)
|
rs869025352
|
|
NM_001613.4(ACTA2):c.352C>T (p.Arg118Trp)
|
rs1845899655
|
|
NM_001613.4(ACTA2):c.419C>T (p.Ala140Val)
|
rs397516683
|
|
NM_001613.4(ACTA2):c.593G>A (p.Arg198His)
|
rs746972765
|
|
NM_001613.4(ACTA2):c.766C>T (p.Arg256Cys)
|
rs886038852
|
|
NM_001613.4(ACTA2):c.767G>A (p.Arg256His)
|
rs766734961
|
|
NM_001613.4(ACTA2):c.773G>A (p.Arg258His)
|
rs121434527
|
|
NM_001614.5(ACTG1):c.206A>G (p.Tyr69Cys)
|
rs781953399
|
|
NM_001673.5(ASNS):c.1320+1G>C
|
rs1791277284
|
|
NM_001690.4(ATP6V1A):c.80C>G (p.Pro27Arg)
|
rs1553709380
|
|
NM_001690.4(ATP6V1A):c.967A>G (p.Arg323Gly)
|
rs1709072898
|
|
NM_001709.5(BDNF):c.502G>T (p.Glu168Ter)
|
rs1554931219
|
|
NM_001829.4(CLCN3):c.1358G>T (p.Ser453Ile)
|
rs1732611964
|
|
NM_001830.4(CLCN4):c.1634G>A (p.Gly545Asp)
|
rs1555977164
|
|
NM_001830.4(CLCN4):c.949G>A (p.Val317Ile)
|
rs1064796023
|
|
NM_001844.5(COL2A1):c.1061G>T (p.Gly354Val)
|
rs1555167847
|
|
NM_001844.5(COL2A1):c.1636G>A (p.Gly546Ser)
|
rs886044555
|
|
NM_001844.5(COL2A1):c.1790G>A (p.Gly597Glu)
|
|
|
NM_001844.5(COL2A1):c.2789G>A (p.Gly930Asp)
|
rs1555165501
|
|
NM_001844.5(COL2A1):c.2852G>A (p.Gly951Glu)
|
|
|
NM_001844.5(COL2A1):c.3062CCGTGGGTCCTCCTGGCC[4] (p.1021PVGPPG[4])
|
rs1555165335
|
|
NM_001844.5(COL2A1):c.3077G>C (p.Gly1026Ala)
|
rs1555165336
|
|
NM_001845.6(COL4A1):c.1180G>C (p.Gly394Arg)
|
rs1879015838
|
|
NM_001845.6(COL4A1):c.2096G>A (p.Gly699Asp)
|
rs1064795935
|
|
NM_001845.6(COL4A1):c.3032G>A (p.Gly1011Glu)
|
rs1555303010
|
|
NM_001845.6(COL4A1):c.3674G>A (p.Gly1225Glu)
|
rs1555302454
|
|
NM_001846.4(COL4A2):c.2840G>A (p.Gly947Asp)
|
|
|
NM_001848.3(COL6A1):c.824G>T (p.Gly275Val)
|
rs1556425468
|
|
NM_001854.4(COL11A1):c.1629+1G>A
|
rs1553234339
|
|
NM_001876.4(CPT1A):c.1184G>C (p.Arg395Pro)
|
rs768667071
|
|
NM_001904.4(CTNNB1):c.1139A>T (p.Asn380Ile)
|
rs1553631770
|
|
NM_001904.4(CTNNB1):c.1723G>A (p.Gly575Arg)
|
rs797044875
|
|
NM_001904.4(CTNNB1):c.2071_2072delinsG (p.Asn691fs)
|
|
|
NM_001931.5(DLAT):c.470T>G (p.Val157Gly)
|
rs797044957
|
|
NM_001943.5(DSG2):c.2001+1G>T
|
|
|
NM_001943.5(DSG2):c.2434G>T (p.Gly812Cys)
|
rs121913010
|
|
NM_001943.5(DSG2):c.2617C>T (p.Gln873Ter)
|
|
|
NM_001943.5(DSG2):c.2620del (p.Thr874fs)
|
rs755243947
|
|
NM_001943.5(DSG2):c.2955del (p.Val986fs)
|
rs1064794709
|
|
NM_001943.5(DSG2):c.3059_3062del (p.Glu1020fs)
|
rs397516706
|
|
NM_001943.5(DSG2):c.523+1G>A
|
rs553299589
|
|
NM_001943.5(DSG2):c.523+1G>C
|
rs553299589
|
|
NM_001958.5(EEF1A2):c.1084G>T (p.Asp362Tyr)
|
|
|
NM_001958.5(EEF1A2):c.1267C>T (p.Arg423Cys)
|
rs886039346
|
|
NM_001999.4(FBN2):c.3466T>C (p.Cys1156Arg)
|
rs1750917259
|
|
NM_001999.4(FBN2):c.3486T>G (p.Cys1162Trp)
|
rs1554123064
|
|
NM_001999.4(FBN2):c.3719G>A (p.Cys1240Tyr)
|
rs1554122896
|
|
NM_001999.4(FBN2):c.3724+1G>A
|
|
|
NM_001999.4(FBN2):c.3724+2T>G
|
|
|
NM_001999.4(FBN2):c.4340G>T (p.Cys1447Phe)
|
|
|
NM_001999.4(FBN2):c.4346-2A>C
|
|
|
NM_001999.4(FBN2):c.523T>C (p.Cys175Arg)
|
rs886038942
|
|
NM_001999.4(FBN2):c.539G>A (p.Cys180Tyr)
|
rs1554075372
|
|
NM_001999.4(FBN2):c.6638-2A>C
|
rs886039200
|
|
NM_002024.6(FMR1):c.797G>A (p.Gly266Glu)
|
rs1569545763
|
|
NM_002025.4(AFF2):c.1210+1G>A
|
rs2070619300
|
|
NM_002025.4(AFF2):c.3203+1G>A
|
rs2072188268
|
|
NM_002047.4(GARS1):c.1031+1G>A
|
rs1554338272
|
|
NM_002047.4(GARS1):c.1810-2A>T
|
|
|
NM_002074.5(GNB1):c.230G>A (p.Gly77Asp)
|
rs1135401746
|
|
NM_002074.5(GNB1):c.233A>G (p.Lys78Arg)
|
rs869312823
|
|
NM_002087.4(GRN):c.708+6_708+9del
|
rs778599933
|
|
NM_002107.7(H3-3A):c.137C>T (p.Thr46Ile)
|
rs1657901999
|
|
NM_002107.7(H3-3A):c.244G>C (p.Asp82His)
|
rs1657903750
|
|
NM_002107.7(H3-3A):c.365C>G (p.Pro122Arg)
|
rs1576203003
|
|
NM_002107.7(H3-3A):c.365C>T (p.Pro122Leu)
|
rs1576203003
|
|
NM_002107.7(H3-3A):c.377A>G (p.Gln126Arg)
|
rs1276519904
|
|
NM_002227.4(JAK1):c.1901C>A (p.Ala634Asp)
|
rs869312953
|
|
NM_002249.6(KCNN3):c.1349T>C (p.Val450Ala)
|
|
|
NM_002292.4(LAMB2):c.4923+1G>T
|
|
|
NM_002294.3(LAMP2):c.183+1G>A
|
rs727503120
|
|
NM_002294.3(LAMP2):c.741+1G>A
|
rs1251075016
|
|
NM_002317.7(LOX):c.139C>T (p.Gln47Ter)
|
|
|
NM_002317.7(LOX):c.210_226dup (p.Val76fs)
|
|
|
NM_002317.7(LOX):c.295_299dup (p.Ala101fs)
|
|
|
NM_002317.7(LOX):c.604G>T (p.Gly202Ter)
|
rs1473260982
|
|
NM_002317.7(LOX):c.625del (p.Gln209fs)
|
rs756849358
|
|
NM_002317.7(LOX):c.841del (p.Arg281fs)
|
|
|
NM_002356.7(MARCKS):c.616_632del (p.Glu206fs)
|
rs1554191995
|
|
NM_002382.5(MAX):c.171+2T>A
|
rs786203009
|
|
NM_002382.5(MAX):c.212T>A (p.Ile71Asn)
|
rs876659610
|
|
NM_002382.5(MAX):c.348del (p.Ser117fs)
|
|
|
NM_002397.5(MEF2C):c.401_402+2del
|
rs1561875779
|
|
NM_002397.5(MEF2C):c.58A>T (p.Thr20Ser)
|
rs1554139870
|
|
NM_002439.5(MSH3):c.127G>A (p.Ala43Thr)
|
rs1351260483
|
|
NM_002439.5(MSH3):c.14del (p.Lys5fs)
|
rs1749186228
|
|
NM_002439.5(MSH3):c.1568+1G>C
|
|
|
NM_002439.5(MSH3):c.1654-1G>C
|
|
|
NM_002439.5(MSH3):c.1764-2A>C
|
|
|
NM_002439.5(MSH3):c.1896+1G>A
|
rs1330593620
|
|
NM_002439.5(MSH3):c.1896+2T>C
|
rs1580027713
|
|
NM_002439.5(MSH3):c.1897-1G>A
|
rs1744149615
|
|
NM_002439.5(MSH3):c.2084+1G>A
|
rs2112884587
|
|
NM_002439.5(MSH3):c.2084+1G>C
|
|
|
NM_002439.5(MSH3):c.2253+3_2253+7del
|
rs1488467945
|
|
NM_002439.5(MSH3):c.2254-1G>A
|
|
|
NM_002439.5(MSH3):c.2319-2A>G
|
rs1197719947
|
|
NM_002439.5(MSH3):c.237+1G>A
|
|
|
NM_002439.5(MSH3):c.2435+2T>C
|
rs1580045730
|
|
NM_002439.5(MSH3):c.2655+1G>A
|
rs1580053768
|
|
NM_002439.5(MSH3):c.2813+1G>A
|
rs2112054627
|
|
NM_002439.5(MSH3):c.2814-95_2871del
|
|
|
NM_002439.5(MSH3):c.2988_3000+893del
|
rs1580091639
|
|
NM_002439.5(MSH3):c.3001-2A>G
|
rs886037878
|
|
NM_002439.5(MSH3):c.358+1G>A
|
rs2112801912
|
|
NM_002439.5(MSH3):c.47C>G (p.Ser16Ter)
|
|
|
NM_002439.5(MSH3):c.579+1G>A
|
rs2112809006
|
|
NM_002439.5(MSH3):c.57del (p.Arg20fs)
|
|
|
NM_002454.3(MTRR):c.1953-6_1953-2del
|
|
|
NM_002470.4(MYH3):c.3269A>C (p.Gln1090Pro)
|
rs1555525941
|
|
NM_002470.4(MYH3):c.706A>C (p.Thr236Pro)
|
rs1555527172
|
|
NM_002474.3(MYH11):c.4578+1G>C
|
rs397514037
|
|
NM_002485.4:c.113_114insALU
|
|
|
NM_002485.5(NBN):c.1124+1G>C
|
rs1057517209
|
|
NM_002485.5(NBN):c.115C>T (p.Gln39Ter)
|
rs377730553
|
|
NM_002485.5(NBN):c.1397+1_1397+9del
|
rs2129716262
|
|
NM_002485.5(NBN):c.1397+1_1397+9delinsACA
|
rs876659666
|
|
NM_002485.5(NBN):c.171+1G>A
|
rs931715719
|
|
NM_002485.5(NBN):c.171+2T>G
|
|
|
NM_002485.5(NBN):c.172-1_176del
|
|
|
NM_002485.5(NBN):c.172-2A>G
|
|
|
NM_002485.5(NBN):c.1845+1G>A
|
rs2129695663
|
|
NM_002485.5(NBN):c.1845+1G>C
|
|
|
NM_002485.5(NBN):c.2070+1G>A
|
rs1554556454
|
|
NM_002485.5(NBN):c.2070+2T>G
|
rs786203223
|
|
NM_002485.5(NBN):c.2071-1G>A
|
rs786201965
|
|
NM_002485.5(NBN):c.2071-1G>C
|
rs786201965
|
|
NM_002485.5(NBN):c.2184+1G>A
|
rs756363734
|
|
NM_002485.5(NBN):c.2185-1G>A
|
rs1057517262
|
|
NM_002485.5(NBN):c.2185-1G>T
|
|
|
NM_002485.5(NBN):c.2226_2234+4del
|
rs1563497529
|
|
NM_002485.5(NBN):c.2234+1G>T
|
rs1586024147
|
|
NM_002485.5(NBN):c.2238C>A (p.Tyr746Ter)
|
rs751570713
|
|
NM_002485.5(NBN):c.2238del (p.Arg745_Tyr746insTer)
|
|
|
NM_002485.5(NBN):c.2T>C (p.Met1Thr)
|
rs746422391
|
|
NM_002485.5(NBN):c.320+1G>A
|
rs1364533250
|
|
NM_002485.5(NBN):c.321-2A>G
|
rs587777931
|
|
NM_002485.5(NBN):c.35_37+10del
|
rs781710700
|
|
NM_002485.5(NBN):c.37+2dup
|
rs876658183
|
|
NM_002485.5(NBN):c.38-2A>G
|
rs771475965
|
|
NM_002485.5(NBN):c.480+2T>G
|
|
|
NM_002485.5(NBN):c.481-1G>A
|
|
|
NM_002485.5(NBN):c.481-2A>G
|
rs751567476
|
|
NM_002485.5(NBN):c.4del (p.Trp2fs)
|
rs1275657359
|
|
NM_002485.5(NBN):c.584+1G>A
|
rs1811862598
|
|
NM_002485.5(NBN):c.584+2T>C
|
rs1586101154
|
|
NM_002485.5(NBN):c.585-1_585delinsC
|
rs786203662
|
|
NM_002485.5(NBN):c.585-2A>G
|
rs772005832
|
|
NM_002485.5(NBN):c.702+1G>A
|
rs1057517104
|
|
NM_002485.5(NBN):c.702+1G>C
|
rs1057517104
|
|
NM_002485.5(NBN):c.741_742dup (p.Glu248fs)
|
rs864309670
|
|
NM_002485.5(NBN):c.897-1G>A
|
rs1586076299
|
|
NM_002485.5(NBN):c.93del (p.Cys31fs)
|
|
|
NM_002485.5(NBN):c.994+1G>T
|
rs1554562083
|
|
NM_002485.5(NBN):c.994+1del
|
|
|
NM_002485.5(NBN):c.994+2T>C
|
rs1586075690
|
|
NM_002485.5(NBN):c.994G>A (p.Gly332Arg)
|
rs1437392838
|
|
NM_002485.5(NBN):c.995-23_998inv
|
|
|
NM_002485.5(NBN):c.995-2A>G
|
rs876659521
|
|
NM_002485.5(NBN):c.9del (p.Lys3fs)
|
|
|
NM_002490.6(NDUFA6):c.281_284del (p.Ile94fs)
|
rs768463498
|
|
NM_002490.6(NDUFA6):c.309del (p.Met104fs)
|
rs763006208
|
|
NM_002528.7(NTHL1):c.116-1G>A
|
rs1411394625
|
|
NM_002528.7(NTHL1):c.354+1G>A
|
rs1377633383
|
|
NM_002528.7(NTHL1):c.42_43del (p.Leu15fs)
|
|
|
NM_002528.7(NTHL1):c.525+2T>G
|
rs2150942179
|
|
NM_002528.7(NTHL1):c.545dup (p.Gln183fs)
|
|
|
NM_002528.7(NTHL1):c.709dup (p.Ile237fs)
|
rs2150938411
|
|
NM_002528.7(NTHL1):c.792-1G>A
|
|
|
NM_002528.7(NTHL1):c.792-2A>G
|
rs2150937989
|
|
NM_002528.7(NTHL1):c.883C>T (p.Gln295Ter)
|
|
|
NM_002529.4(NTRK1):c.2231del (p.Arg744fs)
|
|
|
NM_002529.4(NTRK1):c.571T>C (p.Cys191Arg)
|
rs1026300967
|
|
NM_002547.3(OPHN1):c.1362-2A>G
|
rs1569215808
|
|
NM_002576.5(PAK1):c.1261C>T (p.Arg421Trp)
|
|
|
NM_002578.5(PAK3):c.276+5G>A
|
rs1569398792
|
|
NM_002585.4(PBX1):c.760T>C (p.Ser254Pro)
|
rs1669419321
|
|
NM_002609.4(PDGFRB):c.1996A>C (p.Asn666His)
|
rs797044887
|
|
NM_002641.4(PIGA):c.98A>G (p.His33Arg)
|
rs797044924
|
|
NM_002677.5(PMP2):c.155T>C (p.Ile52Thr)
|
rs1563518388
|
|
NM_002693.3(POLG):c.3104+1G>T
|
|
|
NM_002693.3(POLG):c.3240_3242dup (p.Arg1081dup)
|
rs1064794213
|
|
NM_002709.3(PPP1CB):c.755A>G (p.Asp252Gly)
|
|
|
NM_002715.4(PPP2CA):c.811A>G (p.Asn271Asp)
|
|
|
NM_002734.5(PRKAR1A):c.502+1G>A
|
rs1555813578
|
|
NM_002734.5(PRKAR1A):c.932_933del (p.Glu311fs)
|
|
|
NM_002734.5(PRKAR1A):c.973+1G>C
|
|
|
NM_002734.5(PRKAR1A):c.974_981delinsCAAA (p.Gly325fs)
|
|
|
NM_002755.4(MAP2K1):c.607G>A (p.Glu203Lys)
|
rs1057519733
|
|
NM_002764.4(PRPS1):c.341A>G (p.Asn114Ser)
|
rs137852540
|
|
NM_002778.4(PSAP):c.257T>A (p.Ile86Asn)
|
rs1554881272
|
|
NM_002834.5(PTPN11):c.178G>T (p.Gly60Cys)
|
rs397507507
|
|
NM_002834.5(PTPN11):c.802G>A (p.Gly268Ser)
|
rs397507527
|
|
NM_002834.5(PTPN11):c.846C>G (p.Ile282Met)
|
rs397507530
|
|
NM_002878.4(RAD51D):c.134_144+15del
|
|
|
NM_002878.4(RAD51D):c.141C>A (p.Tyr47Ter)
|
rs771077929
|
|
NM_002878.4(RAD51D):c.144+1dup
|
|
|
NM_002878.4(RAD51D):c.211_263+3141del
|
|
|
NM_002878.4(RAD51D):c.264-2A>C
|
rs1555568514
|
|
NM_002878.4(RAD51D):c.264-2A>G
|
rs1555568514
|
|
NM_002878.4(RAD51D):c.2T>A (p.Met1Lys)
|
rs1064794619
|
|
NM_002878.4(RAD51D):c.2del (p.Met1fs)
|
|
|
NM_002878.4(RAD51D):c.335G>C (p.Gly112Ala)
|
rs587782848
|
|
NM_002878.4(RAD51D):c.346-1G>C
|
rs1555568386
|
|
NM_002878.4(RAD51D):c.486_532del (p.Glu162fs)
|
rs1597861744
|
|
NM_002878.4(RAD51D):c.54del (p.Gln18fs)
|
|
|
NM_002878.4(RAD51D):c.577-2A>G
|
rs1555567649
|
|
NM_002878.4(RAD51D):c.5del (p.Gly2fs)
|
|
|
NM_002878.4(RAD51D):c.608delinsGA (p.Val203fs)
|
rs1597858862
|
|
NM_002878.4(RAD51D):c.620C>G (p.Ser207Trp)
|
rs370228071
|
|
NM_002878.4(RAD51D):c.623dup (p.Thr209fs)
|
rs1555567610
|
|
NM_002878.4(RAD51D):c.641dup (p.Leu215fs)
|
rs1409088398
|
|
NM_002878.4(RAD51D):c.667+1G>T
|
rs1597858666
|
|
NM_002878.4(RAD51D):c.668-2A>C
|
rs1567726325
|
|
NM_002878.4(RAD51D):c.738+1G>A
|
rs1567726124
|
|
NM_002878.4(RAD51D):c.738G>A (p.Val246=)
|
rs1210620444
|
|
NM_002878.4(RAD51D):c.739-2A>T
|
rs1597856297
|
|
NM_002878.4(RAD51D):c.752del (p.Ile251fs)
|
rs1597856236
|
|
NM_002878.4(RAD51D):c.774dup (p.Arg259fs)
|
rs1555567170
|
|
NM_002878.4(RAD51D):c.801del (p.Trp268fs)
|
rs2142411904
|
|
NM_002878.4(RAD51D):c.808_857del (p.Phe270fs)
|
|
|
NM_002878.4(RAD51D):c.82+1G>A
|
rs786202788
|
|
NM_002878.4(RAD51D):c.82+2T>G
|
rs1597878498
|
|
NM_002878.4(RAD51D):c.898del (p.Arg300fs)
|
rs786202251
|
|
NM_002878.4(RAD51D):c.901C>T (p.Gln301Ter)
|
rs1060502959
|
|
NM_002878.4(RAD51D):c.904-2A>C
|
|
|
NM_002878.4(RAD51D):c.904-2A>T
|
rs1403784434
|
|
NM_002880.4(RAF1):c.1472C>T (p.Thr491Ile)
|
rs80338799
|
|
NM_002880.4(RAF1):c.1837C>A (p.Leu613Ile)
|
rs80338797
|
|
NM_002880.4(RAF1):c.524A>G (p.His175Arg)
|
rs397516822
|
|
NM_002880.4(RAF1):c.779C>T (p.Thr260Ile)
|
rs869025501
|
|
NM_002880.4(RAF1):c.782C>A (p.Pro261His)
|
|
|
NM_002880.4(RAF1):c.788T>C (p.Val263Ala)
|
rs397516830
|
|
NM_002890.3(RASA1):c.2011+1G>C
|
|
|
NM_002890.3(RASA1):c.2925+1dup
|
|
|
NM_002971.6(SATB1):c.1259A>G (p.Gln420Arg)
|
rs1291314034
|
|
NM_003000.2:c.251_252insALU
|
|
|
NM_003000.2:c.256_257insALU
|
|
|
NM_003000.3(SDHB):c.127G>C (p.Ala43Pro)
|
|
|
NM_003000.3(SDHB):c.137G>T (p.Arg46Leu)
|
rs772551056
|
|
NM_003000.3(SDHB):c.194T>A (p.Leu65His)
|
rs876659329
|
|
NM_003000.3(SDHB):c.200+3G>C
|
rs876659330
|
|
NM_003000.3(SDHB):c.200+5G>C
|
rs1553178726
|
|
NM_003000.3(SDHB):c.203G>A (p.Cys68Tyr)
|
rs587782904
|
|
NM_003000.3(SDHB):c.221A>T (p.Asp74Val)
|
rs876658713
|
|
NM_003000.3(SDHB):c.238A>G (p.Lys80Glu)
|
rs1131691051
|
|
NM_003000.3(SDHB):c.278G>T (p.Cys93Phe)
|
rs1131691054
|
|
NM_003000.3(SDHB):c.287-3C>G
|
rs1553177772
|
|
NM_003000.3(SDHB):c.289A>T (p.Ile97Phe)
|
rs1553177769
|
|
NM_003000.3(SDHB):c.296G>A (p.Gly99Asp)
|
rs878854576
|
|
NM_003000.3(SDHB):c.331C>G (p.Leu111Val)
|
rs2078005090
|
|
NM_003000.3(SDHB):c.332T>C (p.Leu111Pro)
|
rs1570948631
|
|
NM_003000.3(SDHB):c.386C>G (p.Pro129Arg)
|
rs587781735
|
|
NM_003000.3(SDHB):c.395A>C (p.His132Pro)
|
rs74315372
|
|
NM_003000.3(SDHB):c.412G>T (p.Asp138Tyr)
|
rs786203529
|
|
NM_003000.3(SDHB):c.415C>T (p.Leu139Phe)
|
rs397516834
|
|
NM_003000.3(SDHB):c.419T>A (p.Val140Asp)
|
|
|
NM_003000.3(SDHB):c.539T>C (p.Leu180Pro)
|
|
|
NM_003000.3(SDHB):c.566G>T (p.Cys189Phe)
|
rs876658540
|
|
NM_003000.3(SDHB):c.572G>A (p.Cys191Tyr)
|
rs2077978456
|
|
NM_003000.3(SDHB):c.589C>T (p.Pro197Ser)
|
rs2077978300
|
|
NM_003000.3(SDHB):c.598T>C (p.Trp200Arg)
|
rs1557739966
|
|
NM_003000.3(SDHB):c.622G>A (p.Gly208Arg)
|
|
|
NM_003000.3(SDHB):c.623G>A (p.Gly208Glu)
|
|
|
NM_003000.3(SDHB):c.634C>G (p.Leu212Val)
|
rs1228560456
|
|
NM_003000.3(SDHB):c.634C>T (p.Leu212Phe)
|
rs1228560456
|
|
NM_003000.3(SDHB):c.641A>G (p.Gln214Arg)
|
rs781590955
|
|
NM_003000.3(SDHB):c.642+1G>C
|
rs1131691052
|
|
NM_003000.3(SDHB):c.642G>T (p.Gln214His)
|
rs1278834014
|
|
NM_003000.3(SDHB):c.643-1G>A
|
rs1553177292
|
|
NM_003000.3(SDHB):c.653G>C (p.Trp218Ser)
|
rs1553177290
|
|
NM_003000.3(SDHB):c.65_72+16del
|
|
|
NM_003000.3(SDHB):c.688C>G (p.Arg230Gly)
|
|
|
NM_003000.3(SDHB):c.728G>T (p.Cys243Phe)
|
rs1570944788
|
|
NM_003000.3(SDHB):c.73-1G>A
|
rs1131691055
|
|
NM_003000.3(SDHB):c.73-1G>T
|
rs1131691055
|
|
NM_003000.3(SDHB):c.73-2A>G
|
|
|
NM_003000.3(SDHB):c.746G>T (p.Cys249Phe)
|
|
|
NM_003000.3(SDHB):c.758G>A (p.Cys253Tyr)
|
rs786201085
|
|
NM_003000.3(SDHB):c.761C>T (p.Pro254Leu)
|
rs948484408
|
|
NM_003000.3(SDHB):c.780dup (p.Lys261fs)
|
rs1557738304
|
|
NM_003000.3(SDHB):c.784_787dup (p.Ile263fs)
|
rs1553176976
|
|
NM_003000.3(SDHB):c.789del (p.Ile263fs)
|
rs2077946198
|
|
NM_003000.3(SDHB):c.801del (p.Lys268_Met269insTer)
|
|
|
NM_003000.3(SDHB):c.806del (p.Met269fs)
|
|
|
NM_003001.5(SDHC):c.160C>A (p.Pro54Thr)
|
rs1553262444
|
|
NM_003001.5(SDHC):c.160C>T (p.Pro54Ser)
|
|
|
NM_003001.5(SDHC):c.179+1G>C
|
rs1057517818
|
|
NM_003001.5(SDHC):c.180-2A>G
|
rs1363265634
|
|
NM_003001.5(SDHC):c.202T>C (p.Ser68Pro)
|
rs2102336180
|
|
NM_003001.5(SDHC):c.21-2A>G
|
rs1131691062
|
|
NM_003001.5(SDHC):c.223G>C (p.Gly75Arg)
|
rs867966048
|
|
NM_003001.5(SDHC):c.241+1G>A
|
rs748440817
|
|
NM_003001.5(SDHC):c.241+1G>T
|
|
|
NM_003001.5(SDHC):c.242-2A>G
|
|
|
NM_003001.5(SDHC):c.452C>A (p.Ser151Tyr)
|
rs1571899020
|
|
NM_003001.5(SDHC):c.452_455delinsATGA (p.Ser151_Gly152delinsTyrGlu)
|
|
|
NM_003001.5(SDHC):c.455G>A (p.Gly152Glu)
|
rs1060501386
|
|
NM_003001.5(SDHC):c.497T>G (p.Leu166Arg)
|
rs1571899223
|
|
NM_003001.5(SDHC):c.77+1G>A
|
rs1558164647
|
|
NM_003001.5(SDHC):c.78-1G>T
|
rs786202200
|
|
NM_003002.4(SDHD):c.148C>G (p.His50Asp)
|
rs779249550
|
|
NM_003002.4(SDHD):c.209G>C (p.Arg70Thr)
|
rs755047928
|
|
NM_003002.4(SDHD):c.209G>T (p.Arg70Met)
|
rs755047928
|
|
NM_003002.4(SDHD):c.213_215del (p.Val72del)
|
rs1555186992
|
|
NM_003002.4(SDHD):c.275A>T (p.Asp92Val)
|
rs786205436
|
|
NM_003002.4(SDHD):c.278_280del (p.Tyr93del)
|
rs121908983
|
|
NM_003002.4(SDHD):c.278_280dup (p.Tyr93dup)
|
rs121908983
|
|
NM_003002.4(SDHD):c.305A>G (p.His102Arg)
|
rs104894302
|
|
NM_003002.4(SDHD):c.317G>A (p.Gly106Asp)
|
rs1555187574
|
|
NM_003002.4(SDHD):c.317G>T (p.Gly106Val)
|
rs1555187574
|
|
NM_003002.4(SDHD):c.320T>C (p.Leu107Pro)
|
|
|
NM_003002.4(SDHD):c.320T>G (p.Leu107Arg)
|
rs876658477
|
|
NM_003002.4(SDHD):c.326_327del (p.Gln109fs)
|
rs1592786159
|
|
NM_003002.4(SDHD):c.340T>A (p.Tyr114Asn)
|
rs876659276
|
|
NM_003002.4(SDHD):c.412G>A (p.Gly138Arg)
|
rs786203932
|
|
NM_003002.4(SDHD):c.430_435del (p.Tyr144_His145del)
|
|
|
NM_003002.4(SDHD):c.443_444delinsTT (p.Gly148Val)
|
rs1555187635
|
|
NM_003002.4(SDHD):c.53-7_53-3del
|
rs1865650219
|
|
NM_003042.4(SLC6A1):c.684_689del (p.Cys228_Ile229del)
|
|
|
NM_003042.4(SLC6A1):c.863C>T (p.Ala288Val)
|
rs794726860
|
|
NM_003047.5(SLC9A1):c.1351A>C (p.Ile451Leu)
|
rs1553175089
|
|
NM_003054.6(SLC18A2):c.895G>C (p.Gly299Arg)
|
rs1293033867
|
|
NM_003070.5(SMARCA2):c.1514G>A (p.Arg505Gln)
|
rs1586657848
|
|
NM_003070.5(SMARCA2):c.2326T>C (p.Tyr776His)
|
rs1554623111
|
|
NM_003070.5(SMARCA2):c.2737T>C (p.Phe913Leu)
|
rs1554623885
|
|
NM_003072.5(SMARCA4):c.102_114dup (p.Ala39fs)
|
|
|
NM_003072.5(SMARCA4):c.222+1G>T
|
|
|
NM_003072.5(SMARCA4):c.2275-1G>C
|
|
|
NM_003072.5(SMARCA4):c.2438+1G>C
|
|
|
NM_003072.5(SMARCA4):c.2438+1G>T
|
rs1555774786
|
|
NM_003072.5(SMARCA4):c.2441C>T (p.Thr814Met)
|
rs2089620653
|
|
NM_003072.5(SMARCA4):c.2656A>G (p.Met886Val)
|
rs2146416371
|
|
NM_003072.5(SMARCA4):c.2681C>T (p.Thr894Met)
|
rs2089893983
|
|
NM_003072.5(SMARCA4):c.2859+1G>C
|
rs797044856
|
|
NM_003072.5(SMARCA4):c.3546+1G>A
|
rs2146603666
|
|
NM_003072.5(SMARCA4):c.355+1G>A
|
|
|
NM_003072.5(SMARCA4):c.355+2T>G
|
rs1599942345
|
|
NM_003072.5(SMARCA4):c.3774+2T>A
|
rs1475054297
|
|
NM_003072.5(SMARCA4):c.3951+2T>C
|
rs1555785056
|
|
NM_003072.5(SMARCA4):c.4243C>T (p.Arg1415Ter)
|
rs878854224
|
|
NM_003073.5(SMARCB1):c.158G>T (p.Arg53Leu)
|
rs779769475
|
|
NM_003073.5(SMARCB1):c.41C>A (p.Pro14His)
|
|
|
NM_003073.5(SMARCB1):c.934_981del (p.Ala312_Ala327del)
|
rs1601433521
|
|
NM_003073.5(SMARCB1):c.986+2T>G
|
|
|
NM_003079.5(SMARCE1):c.227A>G (p.Tyr76Cys)
|
rs1555605893
|
|
NM_003079.5(SMARCE1):c.238-2A>G
|
|
|
NM_003079.5(SMARCE1):c.816+1del
|
|
|
NM_003079.5(SMARCE1):c.959del (p.Pro320fs)
|
|
|
NM_003106.4(SOX2):c.334C>G (p.Pro112Ala)
|
rs1553862987
|
|
NM_003108.4(SOX11):c.262A>G (p.Lys88Glu)
|
|
|
NM_003114.5(SPAG1):c.301-2A>G
|
|
|
NM_003136.4(SRP54):c.331G>A (p.Gly111Arg)
|
rs2044272867
|
|
NM_003136.4(SRP54):c.677G>A (p.Gly226Glu)
|
rs1555354750
|
|
NM_003172.4(SURF1):c.106G>C (p.Gly36Arg)
|
rs1836579970
|
|
NM_003183.6(ADAM17):c.230+1G>A
|
rs1665281440
|
|
NM_003193.5(TBCE):c.1491_1491+4dup
|
rs746593718
|
|
NM_003238.6(TGFB2):c.1101T>G (p.Tyr367Ter)
|
|
|
NM_003238.6(TGFB2):c.1139G>T (p.Cys380Phe)
|
rs1553303745
|
|
NM_003238.6(TGFB2):c.346+1G>T
|
rs1553292145
|
|
NM_003238.6(TGFB2):c.895C>T (p.Arg299Trp)
|
rs863223792
|
|
NM_003238.6(TGFB2):c.905G>A (p.Arg302His)
|
rs1553303213
|
|
NM_003239.5(TGFB3):c.1034C>G (p.Ser345Ter)
|
rs1060502827
|
|
NM_003239.5(TGFB3):c.109A>T (p.Lys37Ter)
|
rs2035418540
|
|
NM_003239.5(TGFB3):c.1102_1105del (p.Leu368fs)
|
rs1555360047
|
|
NM_003239.5(TGFB3):c.1188dup (p.Lys397fs)
|
|
|
NM_003239.5(TGFB3):c.310G>T (p.Glu104Ter)
|
|
|
NM_003239.5(TGFB3):c.442C>T (p.Arg148Ter)
|
rs1057523647
|
|
NM_003239.5(TGFB3):c.884dup (p.Gln296fs)
|
|
|
NM_003239.5(TGFB3):c.886_893dup (p.Lys298fs)
|
rs1555360368
|
|
NM_003242.6(TGFBR2):c.1051G>C (p.Gly351Arg)
|
rs1553630221
|
|
NM_003242.6(TGFBR2):c.1052G>A (p.Gly351Asp)
|
rs869025537
|
|
NM_003242.6(TGFBR2):c.1189G>A (p.Asp397Asn)
|
rs863223845
|
|
NM_003242.6(TGFBR2):c.1240G>A (p.Ala414Thr)
|
|
|
NM_003242.6(TGFBR2):c.1240G>C (p.Ala414Pro)
|
rs2125437095
|
|
NM_003242.6(TGFBR2):c.1255G>C (p.Val419Leu)
|
|
|
NM_003242.6(TGFBR2):c.1255G>T (p.Val419Leu)
|
rs863223847
|
|
NM_003242.6(TGFBR2):c.1382G>A (p.Cys461Tyr)
|
rs587782979
|
|
NM_003242.6(TGFBR2):c.1524+2T>C
|
|
|
NM_003242.6(TGFBR2):c.1579G>A (p.Ala527Thr)
|
rs2125455285
|
|
NM_003242.6(TGFBR2):c.1580C>T (p.Ala527Val)
|
rs727503476
|
|
NM_003242.6(TGFBR2):c.1589C>T (p.Thr530Ile)
|
|
|
NM_003242.6(TGFBR2):c.1591G>A (p.Ala531Thr)
|
rs727503477
|
|
NM_003242.6(TGFBR2):c.1599T>A (p.Cys533Ter)
|
|
|
NM_003242.6(TGFBR2):c.914T>A (p.Leu305His)
|
rs1553630174
|
|
NM_003289.4(TPM2):c.26A>C (p.Gln9Pro)
|
rs1554659746
|
|
NM_003319.4(TTN):c.45637dup (p.Thr15213fs)
|
rs876657669
|
|
NM_003319.4(TTN):c.53802_53817del (p.Ala17933_Tyr17934insTer)
|
rs727503559
|
|
NM_003319.4(TTN):c.69998_70007del10
|
|
|
NM_003319.4:c.42742_42743insALU
|
|
|
NM_003319.4:c.42743_42744insALU
|
|
|
NM_003319.4:c.58067_58068insALU
|
|
|
NM_003336.4(UBE2A):c.1A>G (p.Met1Val)
|
rs1556235119
|
|
NM_003336.4(UBE2A):c.2T>G (p.Met1Arg)
|
rs1556235129
|
|
NM_003383.5(VLDLR):c.820+1G>A
|
|
|
NM_003403.5(YY1):c.1015A>C (p.Lys339Gln)
|
rs1555370868
|
|
NM_003412.4(ZIC1):c.1130T>C (p.Leu377Pro)
|
rs2087391194
|
|
NM_003470.3(USP7):c.611+1G>A
|
|
|
NM_003477.3(PDHX):c.1305dup (p.Gln436fs)
|
|
|
NM_003482.4(KMT2D):c.16412G>A (p.Arg5471Lys)
|
rs1555184684
|
|
NM_003482.4(KMT2D):c.4280G>A (p.Cys1427Tyr)
|
rs1555195158
|
|
NM_003482.4(KMT2D):c.70G>T (p.Glu24Ter)
|
rs1555198910
|
|
NM_003542.4(H4C3):c.136C>A (p.Arg46Ser)
|
|
|
NM_003545.4(H4C5):c.110G>C (p.Arg37Pro)
|
|
|
NM_003545.4(H4C5):c.295T>C (p.Tyr99His)
|
|
|
NM_003545.4(H4C5):c.98C>T (p.Pro33Leu)
|
|
|
NM_003560.4(PLA2G6):c.1427+1G>C
|
rs750939090
|
|
NM_003579.4(RAD54L):c.1033G>T (p.Gly345Cys)
|
rs797044888
|
|
NM_003611.3(OFD1):c.929T>C (p.Phe310Ser)
|
rs797044917
|
|
NM_003620.4(PPM1D):c.1226_1227del (p.Met409fs)
|
rs1555648564
|
|
NM_003620.4(PPM1D):c.1254dup (p.Val419fs)
|
rs2031449441
|
|
NM_003620.4(PPM1D):c.1262C>G (p.Ser421Ter)
|
rs2031551111
|
|
NM_003632.3(CNTNAP1):c.1163G>C (p.Arg388Pro)
|
rs779027563
|
|
NM_003673.4(TCAP):c.110_110+1dup
|
|
|
NM_003676.4(DEGS1):c.397C>T (p.Arg133Trp)
|
rs1367958450
|
|
NM_003676.4(DEGS1):c.752dup (p.Leu251fs)
|
rs1402209451
|
|
NM_003718.5(CDK13):c.2638C>T (p.Arg880Cys)
|
rs1005618432
|
|
NM_003722.5(TP63):c.500C>T (p.Ser167Phe)
|
rs1553845515
|
|
NM_003850.3(SUCLA2):c.272-2A>G
|
rs565456094
|
|
NM_003883.4(HDAC3):c.893A>G (p.Tyr298Cys)
|
rs1554216308
|
|
NM_003883.4(HDAC3):c.902G>A (p.Arg301Gln)
|
rs1554216303
|
|
NM_003896.4(ST3GAL5):c.1024G>A (p.Gly342Ser)
|
rs367638648
|
|
NM_003906.5(MCM3AP):c.2628+1G>A
|
|
|
NM_003924.4(PHOX2B):c.208dup (p.Leu70fs)
|
|
|
NM_003924.4(PHOX2B):c.295C>T (p.Arg99Trp)
|
|
|
NM_003924.4(PHOX2B):c.299G>T (p.Arg100Leu)
|
rs104893855
|
|
NM_003924.4(PHOX2B):c.429+1G>A
|
|
|
NM_003924.4(PHOX2B):c.429+1G>T
|
|
|
NM_003924.4(PHOX2B):c.42C>A (p.Tyr14Ter)
|
|
|
NM_003924.4(PHOX2B):c.774_776GGC[3]AGCGGCAGCGGAGGC[1] (p.Ala260_Gly261insAlaAlaAlaAlaGluAlaAla)
|
|
|
NM_003924.4(PHOX2B):c.945A>G (p.Ter315Trp)
|
rs1553897738
|
|
NM_003977.4(AIP):c.811C>T (p.Arg271Trp)
|
rs267606579
|
|
NM_003977.4(AIP):c.919dup (p.Arg307fs)
|
rs267606589
|
|
NM_003995.4(NPR2):c.668-1G>C
|
rs1554672061
|
|
NM_004004.6(GJB2):c.647_650del (p.Arg216fs)
|
rs587783647
|
|
NM_004006.3(DMD):c.31+36947G>A
|
rs886042106
|
|
NM_004006.3(DMD):c.3432+2036A>G
|
rs182575709
|
|
NM_004064.5(CDKN1B):c.21dup (p.Asn8Ter)
|
rs2136355372
|
|
NM_004085.4(TIMM8A):c.127T>C (p.Cys43Arg)
|
rs1602996815
|
|
NM_004115.4(FGF14):c.409-1245_464del
|
|
|
NM_004168.4(SDHA):c.1001_1064+5dup
|
|
|
NM_004168.4(SDHA):c.1064+1G>T
|
rs1579402807
|
|
NM_004168.4(SDHA):c.1064+2T>A
|
rs1553999072
|
|
NM_004168.4(SDHA):c.1261-2A>G
|
rs1579409293
|
|
NM_004168.4(SDHA):c.1334C>T (p.Ser445Leu)
|
rs1296066077
|
|
NM_004168.4(SDHA):c.1351C>A (p.Arg451Ser)
|
rs1553999752
|
|
NM_004168.4(SDHA):c.1351C>T (p.Arg451Cys)
|
rs1553999752
|
|
NM_004168.4(SDHA):c.1432+1_1432+2delinsAG
|
rs1579410180
|
|
NM_004168.4(SDHA):c.151-1G>C
|
rs1458851277
|
|
NM_004168.4(SDHA):c.1571C>T (p.Ala524Val)
|
rs137852767
|
|
NM_004168.4(SDHA):c.1664-2A>G
|
rs2126633124
|
|
NM_004168.4(SDHA):c.1766G>A (p.Arg589Gln)
|
rs763766162
|
|
NM_004168.4(SDHA):c.1794+1G>A
|
rs876659595
|
|
NM_004168.4(SDHA):c.1795-1G>T
|
rs778516878
|
|
NM_004168.4(SDHA):c.1832del (p.Gln611fs)
|
rs1554002451
|
|
NM_004168.4(SDHA):c.1848del (p.Lys616fs)
|
|
|
NM_004168.4(SDHA):c.1879del (p.Leu627fs)
|
|
|
NM_004168.4(SDHA):c.1909-1G>A
|
rs1159597886
|
|
NM_004168.4(SDHA):c.284C>G (p.Pro95Arg)
|
rs1553997377
|
|
NM_004168.4(SDHA):c.308_309inv (p.Ala103Val)
|
|
|
NM_004168.4(SDHA):c.313-1G>A
|
|
|
NM_004168.4(SDHA):c.313-2A>C
|
|
|
NM_004168.4(SDHA):c.456+1G>A
|
rs1579384604
|
|
NM_004168.4(SDHA):c.456+1G>T
|
rs1579384604
|
|
NM_004168.4(SDHA):c.622-2A>T
|
|
|
NM_004168.4(SDHA):c.63+1G>A
|
|
|
NM_004168.4(SDHA):c.63+2del
|
rs1579369969
|
|
NM_004168.4(SDHA):c.64-2A>G
|
rs762456298
|
|
NM_004168.4(SDHA):c.762_770+17del
|
rs1041809852
|
|
NM_004168.4(SDHA):c.940G>A (p.Glu314Lys)
|
rs1337704280
|
|
NM_004187.5(KDM5C):c.1162G>C (p.Ala388Pro)
|
rs199422235
|
|
NM_004187.5(KDM5C):c.1499C>T (p.Pro500Leu)
|
rs1569273900
|
|
NM_004187.5(KDM5C):c.2092G>A (p.Glu698Lys)
|
rs1057517955
|
|
NM_004187.5(KDM5C):c.229G>A (p.Ala77Thr)
|
rs199422239
|
|
NM_004204.5(PIGQ):c.1199_1201del (p.Tyr400del)
|
rs766667249
|
|
NM_004247.4(EFTUD2):c.105+2T>G
|
rs2051339634
|
|
NM_004247.4(EFTUD2):c.2306G>A (p.Gly769Asp)
|
rs2050507811
|
|
NM_004247.4(EFTUD2):c.702+1G>T
|
rs1085307457
|
|
NM_004281.4(BAG3):c.108G>A (p.Trp36Ter)
|
rs1846844070
|
|
NM_004281.4(BAG3):c.1306G>T (p.Glu436Ter)
|
|
|
NM_004281.4(BAG3):c.77G>A (p.Trp26Ter)
|
rs1554875409
|
|
NM_004329.3(BMPR1A):c.1013C>A (p.Ala338Asp)
|
rs199476086
|
|
NM_004329.3(BMPR1A):c.1021G>T (p.Gly341Cys)
|
rs1554891077
|
|
NM_004329.3(BMPR1A):c.1036C>G (p.His346Asp)
|
|
|
NM_004329.3(BMPR1A):c.1037A>G (p.His346Arg)
|
rs587782536
|
|
NM_004329.3(BMPR1A):c.1166+731A>G
|
|
|
NM_004329.3(BMPR1A):c.1167-1G>A
|
rs1589292553
|
|
NM_004329.3(BMPR1A):c.1409T>C (p.Met470Thr)
|
rs199476089
|
|
NM_004329.3(BMPR1A):c.1409T>G (p.Met470Arg)
|
|
|
NM_004329.3(BMPR1A):c.1438C>G (p.Arg480Gly)
|
|
|
NM_004329.3(BMPR1A):c.1438C>T (p.Arg480Trp)
|
rs876658515
|
|
NM_004329.3(BMPR1A):c.1473+1G>A
|
rs1589293533
|
|
NM_004329.3(BMPR1A):c.1473+1G>T
|
|
|
NM_004329.3(BMPR1A):c.1474-2A>G
|
rs587781407
|
|
NM_004329.3(BMPR1A):c.1508G>A (p.Cys503Tyr)
|
rs869312790
|
|
NM_004329.3(BMPR1A):c.233C>T (p.Thr78Ile)
|
rs1064793490
|
|
NM_004329.3(BMPR1A):c.245G>T (p.Cys82Phe)
|
rs1554888310
|
|
NM_004329.3(BMPR1A):c.295G>C (p.Gly99Arg)
|
|
|
NM_004329.3(BMPR1A):c.299G>A (p.Cys100Tyr)
|
|
|
NM_004329.3(BMPR1A):c.355C>T (p.Arg119Cys)
|
rs587782494
|
|
NM_004329.3(BMPR1A):c.431-3C>G
|
rs876659613
|
|
NM_004329.3(BMPR1A):c.531-1G>T
|
rs1589288524
|
|
NM_004329.3(BMPR1A):c.676-1G>C
|
rs1554890734
|
|
NM_004329.3(BMPR1A):c.67G>A (p.Gly23Arg)
|
rs1131691171
|
|
NM_004329.3(BMPR1A):c.869-9A>G
|
rs2133588734
|
|
NM_004333.6(BRAF):c.1600G>C (p.Gly534Arg)
|
rs180177041
|
|
NM_004333.6(BRAF):c.1722C>G (p.His574Gln)
|
rs397507481
|
|
NM_004333.6(BRAF):c.1787G>T (p.Gly596Val)
|
rs397507483
|
|
NM_004333.6(BRAF):c.769C>A (p.Gln257Lys)
|
rs397507469
|
|
NM_004360.5(CDH1):c.1009-1G>C
|
rs1597894632
|
|
NM_004360.5(CDH1):c.1137+2T>C
|
rs786202817
|
|
NM_004360.5(CDH1):c.1553_1565+39del
|
rs1555516191
|
|
NM_004360.5(CDH1):c.1565+1del
|
rs1064795267
|
|
NM_004360.5(CDH1):c.1565+5G>A
|
rs786201861
|
|
NM_004360.5(CDH1):c.1566-2A>G
|
rs1555516520
|
|
NM_004360.5(CDH1):c.1613A>T (p.Asp538Val)
|
rs863224726
|
|
NM_004360.5(CDH1):c.1703C>G (p.Thr568Arg)
|
rs786202712
|
|
NM_004360.5(CDH1):c.1711+1G>C
|
rs886041161
|
|
NM_004360.5(CDH1):c.1711G>A (p.Gly571Ser)
|
rs786202290
|
|
NM_004360.5(CDH1):c.1936+2T>C
|
|
|
NM_004360.5(CDH1):c.1936+5G>A
|
rs1567512631
|
|
NM_004360.5(CDH1):c.2165-2A>G
|
rs1596970624
|
|
NM_004360.5(CDH1):c.2196G>C (p.Arg732=)
|
|
|
NM_004360.5(CDH1):c.2272G>A (p.Glu758Lys)
|
rs786202785
|
|
NM_004360.5(CDH1):c.2295+1G>A
|
|
|
NM_004360.5(CDH1):c.2295+1G>C
|
rs1596971108
|
|
NM_004360.5(CDH1):c.2295G>A (p.Gln765=)
|
rs1961383748
|
|
NM_004360.5(CDH1):c.2296-3A>G
|
rs113067020
|
|
NM_004360.5(CDH1):c.2416G>T (p.Glu806Ter)
|
|
|
NM_004360.5(CDH1):c.2436del (p.Asp812fs)
|
|
|
NM_004360.5(CDH1):c.2439+5_2439+8del
|
rs587782810
|
|
NM_004360.5(CDH1):c.2446A>T (p.Lys816Ter)
|
rs1555518211
|
|
NM_004360.5(CDH1):c.2474dup (p.Pro826fs)
|
rs1555518221
|
|
NM_004360.5(CDH1):c.2480dup (p.Tyr827Ter)
|
rs1596976243
|
|
NM_004360.5(CDH1):c.2490dup (p.Leu831fs)
|
rs1131690822
|
|
NM_004360.5(CDH1):c.2506G>T (p.Glu836Ter)
|
rs1555518239
|
|
NM_004360.5(CDH1):c.48G>C (p.Gln16His)
|
rs749591910
|
|
NM_004360.5(CDH1):c.532-1G>C
|
rs771085839
|
|
NM_004360.5(CDH1):c.635G>T (p.Gly212Val)
|
rs1555515276
|
|
NM_004360.5(CDH1):c.687+2T>C
|
rs1555515297
|
|
NM_004360.5(CDH1):c.831A>G (p.Pro277=)
|
|
|
NM_004360.5(CDH1):c.833-9C>G
|
rs878854698
|
|
NM_004360.5(CDH1):c.944A>G (p.Asn315Ser)
|
|
|
NM_004369.4(COL6A3):c.6354+1G>A
|
rs886042883
|
|
NM_004369.4(COL6A3):c.6355G>A (p.Gly2119Arg)
|
|
|
NM_004370.6(COL12A1):c.8453G>A (p.Gly2818Glu)
|
rs1554168326
|
|
NM_004380.3(CREBBP):c.3882C>G (p.Cys1294Trp)
|
rs1278147369
|
|
NM_004380.3(CREBBP):c.4493G>A (p.Arg1498Gln)
|
rs1567269945
|
|
NM_004380.3(CREBBP):c.5159G>A (p.Cys1720Tyr)
|
rs2051906316
|
|
NM_004380.3(CREBBP):c.6324C>A (p.Tyr2108Ter)
|
rs199821421
|
|
NM_004387.4(NKX2-5):c.167_186dup (p.Ala63fs)
|
rs2113906336
|
|
NM_004408.4(DNM1):c.1610G>A (p.Gly537Asp)
|
rs1554781552
|
|
NM_004408.4(DNM1):c.415G>A (p.Gly139Arg)
|
rs1564328617
|
|
NM_004415.2:c.3564_3565insALU
|
|
|
NM_004415.4(DSP):c.123C>G (p.Tyr41Ter)
|
rs1057523045
|
|
NM_004415.4(DSP):c.2437-1G>C
|
rs1057517903
|
|
NM_004415.4(DSP):c.250_273+1del
|
|
|
NM_004415.4(DSP):c.6954_6955del (p.Gly2319fs)
|
rs1554108929
|
|
NM_004415.4(DSP):c.7123G>C (p.Gly2375Arg)
|
rs376923069
|
|
NM_004415.4(DSP):c.7346del (p.Lys2449fs)
|
|
|
NM_004415.4(DSP):c.7418_7425dup (p.Glu2476fs)
|
|
|
NM_004415.4(DSP):c.778-2A>G
|
rs113726158
|
|
NM_004415.4(DSP):c.7780dup (p.Ser2594fs)
|
|
|
NM_004415.4(DSP):c.8170C>T (p.Gln2724Ter)
|
rs879254353
|
|
NM_004415.4(DSP):c.8188del (p.Gln2730fs)
|
rs886038929
|
|
NM_004415.4(DSP):c.868G>A (p.Glu290Lys)
|
rs397516974
|
|
NM_004453.4(ETFDH):c.485_487+14delinsT
|
rs796051963
|
|
NM_004456.5(EZH2):c.406G>C (p.Asp136His)
|
rs1554499814
|
|
NM_004463.3(FGD1):c.1328G>A (p.Arg443His)
|
rs137853266
|
|
NM_004463.3(FGD1):c.1555C>T (p.Arg519Cys)
|
rs1557189252
|
|
NM_004463.3(FGD1):c.1906C>T (p.Arg636Trp)
|
|
|
NM_004463.3(FGD1):c.2015+1G>A
|
|
|
NM_004463.3(FGD1):c.2020GAG[2] (p.Glu676del)
|
|
|
NM_004484.4(GPC3):c.1166+1G>A
|
|
|
NM_004484.4(GPC3):c.1666G>A (p.Gly556Arg)
|
rs267606850
|
|
NM_004493.3(HSD17B10):c.439C>T (p.Arg147Cys)
|
rs1064794694
|
|
NM_004541.4(NDUFA1):c.127T>C (p.Tyr43His)
|
rs797044914
|
|
NM_004551.3(NDUFS3):c.3G>C (p.Met1Ile)
|
|
|
NM_004553.6(NDUFS6):c.109G>T (p.Glu37Ter)
|
|
|
NM_004586.3(RPS6KA3):c.2186G>A (p.Arg729Gln)
|
rs28935171
|
|
NM_004586.3(RPS6KA3):c.326-11A>G
|
rs1555943503
|
|
NM_004586.3(RPS6KA3):c.632-1G>C
|
rs398124177
|
|
NM_004606.5(TAF1):c.2182dup (p.Thr728fs)
|
|
|
NM_004612.4(TGFBR1):c.1063G>A (p.Ala355Thr)
|
|
|
NM_004612.4(TGFBR1):c.1124C>G (p.Thr375Arg)
|
rs1827743139
|
|
NM_004612.4(TGFBR1):c.1457T>C (p.Leu486Ser)
|
rs886039176
|
|
NM_004612.4(TGFBR1):c.722C>T (p.Ser241Leu)
|
rs111854391
|
|
NM_004612.4(TGFBR1):c.757A>G (p.Met253Val)
|
rs886038919
|
|
NM_004612.4(TGFBR1):c.759G>A (p.Met253Ile)
|
|
|
NM_004612.4(TGFBR1):c.980C>T (p.Pro327Leu)
|
|
|
NM_004621.6(TRPC6):c.2689G>A (p.Glu897Lys)
|
rs121434395
|
|
NM_004655.4(AXIN2):c.1059+1G>C
|
|
|
NM_004655.4(AXIN2):c.1712+1G>T
|
|
|
NM_004655.4(AXIN2):c.1713-1G>A
|
rs1309148182
|
|
NM_004655.4(AXIN2):c.2205_2206dup (p.Pro736fs)
|
|
|
NM_004655.4(AXIN2):c.2309del (p.Phe770fs)
|
rs1299440644
|
|
NM_004656.4(BAP1):c.1117-1G>A
|
|
|
NM_004656.4(BAP1):c.118C>T (p.Gln40Ter)
|
rs1553646284
|
|
NM_004656.4(BAP1):c.1251-1G>A
|
rs1578221396
|
|
NM_004656.4(BAP1):c.1251-2A>G
|
rs2153226773
|
|
NM_004656.4(BAP1):c.1708C>G (p.Leu570Val)
|
|
|
NM_004656.4(BAP1):c.1730-2A>G
|
rs2153226523
|
|
NM_004656.4(BAP1):c.1A>T (p.Met1Leu)
|
|
|
NM_004656.4(BAP1):c.2056+1G>C
|
rs1578218644
|
|
NM_004656.4(BAP1):c.2057-2A>G
|
rs587776878
|
|
NM_004656.4(BAP1):c.249_255+15delinsAGACC
|
|
|
NM_004656.4(BAP1):c.38-1G>A
|
rs1553646367
|
|
NM_004656.4(BAP1):c.3G>C (p.Met1Ile)
|
|
|
NM_004656.4(BAP1):c.535C>T (p.Arg179Trp)
|
rs910211860
|
|
NM_004656.4(BAP1):c.553G>A (p.Gly185Arg)
|
rs2153227788
|
|
NM_004656.4(BAP1):c.580+1G>T
|
rs1553645785
|
|
NM_004656.4(BAP1):c.581-1G>T
|
rs1553645729
|
|
NM_004656.4(BAP1):c.59_67+1del
|
|
|
NM_004656.4(BAP1):c.606G>C (p.Trp202Cys)
|
|
|
NM_004656.4(BAP1):c.606G>T (p.Trp202Cys)
|
rs868339867
|
|
NM_004656.4(BAP1):c.659+1G>T
|
|
|
NM_004656.4(BAP1):c.659+1del
|
rs1064795667
|
|
NM_004656.4(BAP1):c.659+3A>C
|
rs878854741
|
|
NM_004656.4(BAP1):c.660-2A>G
|
rs1559589809
|
|
NM_004656.4(BAP1):c.68-2_68-1insTTCCTTTCCTTGACACCTTAAC
|
rs1064792988
|
|
NM_004656.4(BAP1):c.745_783+57delinsTGG
|
|
|
NM_004699.4(FAM50A):c.760G>A (p.Glu254Lys)
|
|
|
NM_004859.4(CLTC):c.2080_2094del (p.Ser694_Leu698del)
|
|
|
NM_004859.4(CLTC):c.2204C>T (p.Ala735Val)
|
rs1555605688
|
|
NM_004859.4(CLTC):c.4606-1G>A
|
|
|
NM_004859.4(CLTC):c.4862_4866del (p.Lys1621fs)
|
|
|
NM_004859.4(CLTC):c.4904-1G>A
|
rs781677731
|
|
NM_004964.3(HDAC1):c.461A>G (p.Asn154Ser)
|
rs797044931
|
|
NM_004974.4(KCNA2):c.539T>G (p.Phe180Cys)
|
|
|
NM_004974.4(KCNA2):c.869T>G (p.Leu290Arg)
|
rs1085307768
|
|
NM_004975.4(KCNB1):c.1041C>A (p.Ser347Arg)
|
rs587777848
|
|
NM_004975.4(KCNB1):c.1100C>T (p.Ser367Phe)
|
rs1984252463
|
|
NM_004975.4(KCNB1):c.934C>T (p.Arg312Cys)
|
|
|
NM_004975.4(KCNB1):c.988G>A (p.Glu330Lys)
|
rs1555889114
|
|
NM_005045.4(RELN):c.812G>T (p.Gly271Val)
|
rs1554404338
|
|
NM_005097.4(LGI1):c.504-1G>T
|
rs1564851314
|
|
NM_005097.4(LGI1):c.673+2T>C
|
|
|
NM_005120.3(MED12):c.1300del (p.Ala434fs)
|
rs1556334793
|
|
NM_005120.3(MED12):c.2881C>T (p.Arg961Trp)
|
rs80338758
|
|
NM_005120.3(MED12):c.3927C>A (p.Asp1309Glu)
|
|
|
NM_005120.3(MED12):c.6358C>T (p.Gln2120Ter)
|
rs1556340124
|
|
NM_005120.3(MED12):c.887G>A (p.Arg296Gln)
|
rs1556334519
|
|
NM_005159.5(ACTC1):c.553C>T (p.Arg185Trp)
|
rs397517065
|
|
NM_005188.4(CBL):c.1100A>C (p.Gln367Pro)
|
rs267606704
|
|
NM_005188.4(CBL):c.1109_1111dup (p.Leu370_Tyr371insLeu)
|
|
|
NM_005188.4(CBL):c.1166A>C (p.Lys389Thr)
|
rs1949904868
|
|
NM_005214.5(CTLA4):c.436G>A (p.Gly146Arg)
|
rs1688718864
|
|
NM_005220.3(DLX3):c.534G>C (p.Gln178His)
|
rs2144182867
|
|
NM_005235.3(ERBB4):c.119_120del (p.Leu39_Ser40insTer)
|
rs1553563398
|
|
NM_005249.5(FOXG1):c.620T>C (p.Ile207Thr)
|
rs1881803464
|
|
NM_005249.5(FOXG1):c.701C>T (p.Ser234Phe)
|
rs1555321334
|
|
NM_005249.5(FOXG1):c.705CAA[1] (p.Asn236del)
|
|
|
NM_005249.5(FOXG1):c.749G>A (p.Gly250Asp)
|
rs1881807337
|
|
NM_005267.5(GJA8):c.136G>A (p.Gly46Arg)
|
rs1553242554
|
|
NM_005267.5(GJA8):c.151G>T (p.Asp51Tyr)
|
rs864309703
|
|
NM_005276.4(GPD1):c.866_867del (p.Lys289fs)
|
rs746781699
|
|
NM_005321.3(H1-4):c.368_369insT (p.Gly124fs)
|
rs1764189332
|
|
NM_005321.3(H1-4):c.408dup (p.Lys137fs)
|
rs1581429395
|
|
NM_005321.3(H1-4):c.414dup (p.Lys139fs)
|
rs1581429403
|
|
NM_005321.3(H1-4):c.427_430dup (p.Ala144fs)
|
rs1131690805
|
|
NM_005321.3(H1-4):c.430dup (p.Ala144fs)
|
rs1131690805
|
|
NM_005359.6(SMAD4):c.1051G>C (p.Asp351His)
|
rs1057519739
|
|
NM_005359.6(SMAD4):c.1088G>A (p.Cys363Tyr)
|
rs876660556
|
|
NM_005359.6(SMAD4):c.1088_1090del (p.Cys363del)
|
rs377767349
|
|
NM_005359.6(SMAD4):c.1308+1G>T
|
rs587781618
|
|
NM_005359.6(SMAD4):c.1349_1376dup (p.Ala460fs)
|
rs876660720
|
|
NM_005359.6(SMAD4):c.1476TGA[1] (p.Asp494del)
|
rs1910518741
|
|
NM_005359.6(SMAD4):c.1495T>C (p.Cys499Arg)
|
rs1060500738
|
|
NM_005359.6(SMAD4):c.1529G>T (p.Gly510Val)
|
rs377767371
|
|
NM_005359.6(SMAD4):c.1546C>T (p.Gln516Ter)
|
|
|
NM_005359.6(SMAD4):c.250-1G>C
|
rs1555685149
|
|
NM_005359.6(SMAD4):c.424+1G>T
|
|
|
NM_005359.6(SMAD4):c.787+2T>C
|
rs1909895611
|
|
NM_005359.6(SMAD4):c.905-1G>A
|
rs1555686070
|
|
NM_005359.6(SMAD4):c.989A>G (p.Glu330Gly)
|
rs281875324
|
|
NM_005360.5(MAF):c.170C>T (p.Ser57Phe)
|
rs1555530080
|
|
NM_005378.6(MYCN):c.1037dup (p.Gln347fs)
|
rs1662848905
|
|
NM_005431.2(XRCC2):c.109dup (p.Ser37fs)
|
rs1213272601
|
|
NM_005431.2(XRCC2):c.122-1G>T
|
rs201836415
|
|
NM_005431.2(XRCC2):c.166_167del (p.Glu56fs)
|
|
|
NM_005431.2(XRCC2):c.175del (p.Tyr59fs)
|
|
|
NM_005431.2(XRCC2):c.240_243del (p.Phe80fs)
|
|
|
NM_005431.2(XRCC2):c.2T>C (p.Met1Thr)
|
rs1064793295
|
|
NM_005431.2(XRCC2):c.350del (p.Leu117fs)
|
rs764640893
|
|
NM_005431.2(XRCC2):c.350dup (p.Leu117fs)
|
rs764640893
|
|
NM_005431.2(XRCC2):c.377T>A (p.Leu126Ter)
|
rs1064794088
|
|
NM_005431.2(XRCC2):c.377T>G (p.Leu126Ter)
|
|
|
NM_005431.2(XRCC2):c.395C>A (p.Ser132Ter)
|
|
|
NM_005431.2(XRCC2):c.488dup (p.Glu164fs)
|
|
|
NM_005431.2(XRCC2):c.490_491del (p.Glu164fs)
|
rs1590129487
|
|
NM_005431.2(XRCC2):c.609del (p.Ser204fs)
|
|
|
NM_005431.2(XRCC2):c.651_652del (p.Cys217_Asp218delinsTer)
|
rs746142129
|
|
NM_005431.2(XRCC2):c.96del (p.Phe32fs)
|
rs730882048
|
|
NM_005445.4(SMC3):c.1655T>A (p.Val552Asp)
|
|
|
NM_005445.4(SMC3):c.3439C>G (p.Gln1147Glu)
|
rs1861409519
|
|
NM_005445.4(SMC3):c.381C>G (p.Ser127Arg)
|
rs748876063
|
|
NM_005450.6(NOG):c.615G>A (p.Trp205Ter)
|
rs104894615
|
|
NM_005461.5(MAFB):c.209C>T (p.Ser70Leu)
|
rs387907006
|
|
NM_005465.7(AKT3):c.1393C>T (p.Arg465Trp)
|
rs587776935
|
|
NM_005476.7(GNE):c.796C>T (p.Arg266Trp)
|
rs121908621
|
|
NM_005499.3(UBA2):c.1A>G (p.Met1Val)
|
rs2075210211
|
|
NM_005499.3(UBA2):c.52_58del (p.Gly18fs)
|
|
|
NM_005543.4(INSL3):c.148dup (p.Arg50fs)
|
rs1187807999
|
|
NM_005559.4(LAMA1):c.7870T>C (p.Tyr2624His)
|
rs797044940
|
|
NM_005585.5(SMAD6):c.840dup (p.Arg281fs)
|
|
|
NM_005585.5(SMAD6):c.950C>G (p.Ser317Ter)
|
rs1333161839
|
|
NM_005591.3:c.14_15insALU
|
|
|
NM_005591.4(MRE11):c.1018-1G>A
|
rs1555012083
|
|
NM_005591.4(MRE11):c.1098+2T>C
|
rs876659343
|
|
NM_005591.4(MRE11):c.1225+1G>A
|
rs876658665
|
|
NM_005591.4(MRE11):c.1225_1225+1delinsCA
|
rs2134999194
|
|
NM_005591.4(MRE11):c.1226-2A>C
|
rs1555009945
|
|
NM_005591.4(MRE11):c.1327-1G>C
|
|
|
NM_005591.4(MRE11):c.1327-2A>G
|
rs878854776
|
|
NM_005591.4(MRE11):c.154-1G>A
|
rs1555017290
|
|
NM_005591.4(MRE11):c.1564-1G>A
|
|
|
NM_005591.4(MRE11):c.1783+1G>A
|
|
|
NM_005591.4(MRE11):c.1784-2A>G
|
rs201572020
|
|
NM_005591.4(MRE11):c.1868-2A>C
|
rs1555002450
|
|
NM_005591.4(MRE11):c.1926+2T>C
|
rs1555002390
|
|
NM_005591.4(MRE11):c.1926+2_1926+5del
|
rs1555002387
|
|
NM_005591.4(MRE11):c.1927-1G>T
|
rs1295485913
|
|
NM_005591.4(MRE11):c.1927-2A>G
|
rs587781822
|
|
NM_005591.4(MRE11):c.1994+1G>C
|
|
|
NM_005591.4(MRE11):c.1995-2A>G
|
rs1591634006
|
|
NM_005591.4(MRE11):c.21-1G>A
|
|
|
NM_005591.4(MRE11):c.21-6_26del
|
rs587780138
|
|
NM_005591.4(MRE11):c.314+2T>C
|
rs1591718826
|
|
NM_005591.4(MRE11):c.3G>T (p.Met1Ile)
|
rs1555018818
|
|
NM_005591.4(MRE11):c.402+2_402+3delinsGGG
|
rs1555015413
|
|
NM_005591.4(MRE11):c.402G>C (p.Gly134=)
|
rs587782669
|
|
NM_005591.4(MRE11):c.403-2A>G
|
|
|
NM_005591.4(MRE11):c.403-2A>T
|
rs2135086294
|
|
NM_005591.4(MRE11):c.47T>G (p.Leu16Ter)
|
|
|
NM_005591.4(MRE11):c.56del (p.Thr19fs)
|
|
|
NM_005591.4(MRE11):c.660-1G>A
|
rs876658917
|
|
NM_005591.4(MRE11):c.845+2T>A
|
rs587781381
|
|
NM_005591.4(MRE11):c.846-1G>T
|
|
|
NM_005591.4(MRE11):c.846-2A>C
|
rs1591693112
|
|
NM_005629.4(SLC6A8):c.318CTT[1] (p.Phe107del)
|
rs80338739
|
|
NM_005633.4(SOS1):c.1310T>A (p.Ile437Asn)
|
rs397517150
|
|
NM_005633.4(SOS1):c.2207T>G (p.Ile736Arg)
|
rs1553354396
|
|
NM_005633.4(SOS1):c.512T>G (p.Val171Gly)
|
rs397517174
|
|
NM_005639.3(SYT1):c.1090G>A (p.Asp364Asn)
|
rs1555226395
|
|
NM_005654.6(NR2F1):c.317G>A (p.Cys106Tyr)
|
rs1131691826
|
|
NM_005654.6(NR2F1):c.365G>A (p.Cys122Tyr)
|
|
|
NM_005654.6(NR2F1):c.425G>T (p.Arg142Leu)
|
rs1554074684
|
|
NM_005654.6(NR2F1):c.682_684dup (p.Phe228dup)
|
rs1753264180
|
|
NM_005732.3:c.2291_2292insALU
|
|
|
NM_005732.4(RAD50):c.1245+1G>A
|
rs1561639636
|
|
NM_005732.4(RAD50):c.12_13delinsTT (p.Glu5Ter)
|
|
|
NM_005732.4(RAD50):c.1636-2A>G
|
rs1554098466
|
|
NM_005732.4(RAD50):c.1794-1G>T
|
rs587781742
|
|
NM_005732.4(RAD50):c.1969+1G>A
|
rs587782078
|
|
NM_005732.4(RAD50):c.1970-2A>G
|
rs876660728
|
|
NM_005732.4(RAD50):c.1A>G (p.Met1Val)
|
rs876658212
|
|
NM_005732.4(RAD50):c.2524+1G>T
|
rs1581001575
|
|
NM_005732.4(RAD50):c.2525-1G>T
|
rs1015686770
|
|
NM_005732.4(RAD50):c.263_365+47delinsCAAAAAGAC
|
rs1580985027
|
|
NM_005732.4(RAD50):c.2718+1_2718+5del
|
rs876659158
|
|
NM_005732.4(RAD50):c.2829+5G>C
|
rs1446519890
|
|
NM_005732.4(RAD50):c.2830-2A>C
|
rs1554099356
|
|
NM_005732.4(RAD50):c.2922+1G>A
|
rs1581004749
|
|
NM_005732.4(RAD50):c.3164+1G>A
|
rs786203805
|
|
NM_005732.4(RAD50):c.3164+1G>C
|
rs786203805
|
|
NM_005732.4(RAD50):c.3164+2T>C
|
|
|
NM_005732.4(RAD50):c.3389+1G>A
|
rs762648843
|
|
NM_005732.4(RAD50):c.3389+1G>C
|
rs762648843
|
|
NM_005732.4(RAD50):c.3390-1G>A
|
|
|
NM_005732.4(RAD50):c.3475+1G>A
|
|
|
NM_005732.4(RAD50):c.3475+2T>C
|
rs761168506
|
|
NM_005732.4(RAD50):c.3476-10_3480del
|
rs587782866
|
|
NM_005732.4(RAD50):c.3612_3618+5del
|
rs995265408
|
|
NM_005732.4(RAD50):c.3618+1G>A
|
rs587781925
|
|
NM_005732.4(RAD50):c.3619-2A>G
|
|
|
NM_005732.4(RAD50):c.366-2A>G
|
rs1554097755
|
|
NM_005732.4(RAD50):c.3722_3745delinsGCGTA (p.Asn1241fs)
|
|
|
NM_005732.4(RAD50):c.3753-1G>A
|
rs1554101314
|
|
NM_005732.4(RAD50):c.551+2T>A
|
rs1580987375
|
|
NM_005732.4(RAD50):c.551+2T>C
|
rs1580987375
|
|
NM_005732.4(RAD50):c.552-1G>T
|
|
|
NM_005732.4(RAD50):c.756+2T>G
|
rs764122619
|
|
NM_005732.4(RAD50):c.756_756+2delinsTG
|
rs1554097840
|
|
NM_005732.4(RAD50):c.886-1G>C
|
rs1580992079
|
|
NM_005732.4(RAD50):c.886-4_890delinsCAAATAAA
|
rs1554098191
|
|
NM_005826.5(HNRNPR):c.1654C>T (p.Gln552Ter)
|
rs1553153365
|
|
NM_005850.5(SF3B4):c.164-1G>A
|
rs797044869
|
|
NM_005859.5(PURA):c.305T>C (p.Leu102Pro)
|
rs793888531
|
|
NM_005859.5(PURA):c.458G>C (p.Arg153Pro)
|
rs886039610
|
|
NM_005859.5(PURA):c.458_487dup (p.Arg153_Asn162dup)
|
rs1763047232
|
|
NM_005859.5(PURA):c.563T>C (p.Ile188Thr)
|
rs793888527
|
|
NM_005859.5(PURA):c.572C>T (p.Pro191Leu)
|
rs1064795165
|
|
NM_005859.5(PURA):c.691TTC[2] (p.Phe233del)
|
rs786204835
|
|
NM_005862.3(STAG1):c.1118G>A (p.Arg373Gln)
|
rs1376334317
|
|
NM_005866.4(SIGMAR1):c.19del (p.Arg7fs)
|
rs747285235
|
|
NM_005902.4(SMAD3):c.1091A>G (p.Tyr364Cys)
|
rs886039177
|
|
NM_005902.4(SMAD3):c.1117C>T (p.Arg373Cys)
|
rs863223746
|
|
NM_005902.4(SMAD3):c.1118G>A (p.Arg373His)
|
rs1060500766
|
|
NM_005902.4(SMAD3):c.1139G>A (p.Trp380Ter)
|
|
|
NM_005902.4(SMAD3):c.1154G>C (p.Arg385Thr)
|
rs886038770
|
|
NM_005902.4(SMAD3):c.1187T>A (p.Ile396Asn)
|
rs1595965957
|
|
NM_005902.4(SMAD3):c.1A>C (p.Met1Leu)
|
rs1555405092
|
|
NM_005902.4(SMAD3):c.401-6G>A
|
rs745672741
|
|
NM_005902.4(SMAD3):c.727C>T (p.Arg243Cys)
|
rs886039137
|
|
NM_005902.4(SMAD3):c.733G>A (p.Gly245Arg)
|
rs863223737
|
|
NM_005902.4(SMAD3):c.733G>C (p.Gly245Arg)
|
rs863223737
|
|
NM_005902.4(SMAD3):c.872-2_881del
|
|
|
NM_005918.4(MDH2):c.556-1G>C
|
|
|
NM_005921.2(MAP3K1):c.566T>A (p.Leu189Gln)
|
rs387906788
|
|
NM_005932.4(MIPEP):c.1053+1G>A
|
|
|
NM_005996.4(TBX3):c.370G>T (p.Val124Phe)
|
rs927204453
|
|
NM_005996.4(TBX3):c.418T>C (p.Cys140Arg)
|
rs1868908326
|
|
NM_006005.3(WFS1):c.2486T>C (p.Leu829Pro)
|
rs104893883
|
|
NM_006009.4(TUBA1A):c.1055A>T (p.Lys352Met)
|
rs1555162303
|
|
NM_006009.4(TUBA1A):c.1082C>T (p.Thr361Ile)
|
rs1555162301
|
|
NM_006009.4(TUBA1A):c.128G>T (p.Gly43Val)
|
|
|
NM_006009.4(TUBA1A):c.191G>A (p.Arg64Gln)
|
rs1942184922
|
|
NM_006009.4(TUBA1A):c.344T>C (p.Ile115Thr)
|
rs1085307716
|
|
NM_006009.4(TUBA1A):c.379G>A (p.Asp127Asn)
|
rs1085308005
|
|
NM_006009.4(TUBA1A):c.781C>G (p.Pro261Ala)
|
|
|
NM_006009.4(TUBA1A):c.902A>G (p.Gln301Arg)
|
rs1942169309
|
|
NM_006009.4(TUBA1A):c.959G>A (p.Arg320His)
|
rs1555162323
|
|
NM_006015.6(ARID1A):c.5976_5981dup (p.Phe1993_Val1994dup)
|
rs2081174999
|
|
NM_006015.6(ARID1A):c.6232G>A (p.Glu2078Lys)
|
rs869312956
|
|
NM_006015.6(ARID1A):c.854dup (p.Thr286fs)
|
|
|
NM_006015.6(ARID1A):c.971del (p.Gly324fs)
|
|
|
NM_006086.4(TUBB3):c.533C>T (p.Thr178Met)
|
rs747480526
|
|
NM_006087.4(TUBB4A):c.1240A>T (p.Asn414Tyr)
|
rs1914081211
|
|
NM_006087.4(TUBB4A):c.293G>A (p.Gly98Asp)
|
rs1555754185
|
|
NM_006087.4(TUBB4A):c.763G>A (p.Val255Ile)
|
rs767399782
|
|
NM_006096.4(NDRG1):c.205+1G>C
|
|
|
NM_006158.5(NEFL):c.23C>G (p.Pro8Arg)
|
rs61491953
|
|
NM_006179.5(NTF4):c.521A>G (p.Gln174Arg)
|
rs797044939
|
|
NM_006180.6(NTRK2):c.1301A>G (p.Tyr434Cys)
|
rs886041091
|
|
NM_006196.4(PCBP1):c.550C>T (p.Gln184Ter)
|
rs797044899
|
|
NM_006218.4(PIK3CA):c.1625A>G (p.Glu542Gly)
|
rs1057519927
|
|
NM_006236.3(POU3F3):c.1032del (p.Leu345fs)
|
rs1676571583
|
|
NM_006236.3(POU3F3):c.1197del (p.Ile400fs)
|
rs1553426479
|
|
NM_006236.3(POU3F3):c.1234_1244del (p.Ser412fs)
|
rs1676574259
|
|
NM_006236.3(POU3F3):c.125del (p.Gly42fs)
|
rs1303053833
|
|
NM_006236.3(POU3F3):c.992_1006del (p.Gln331_Lys335del)
|
rs1553426462
|
|
NM_006245.4(PPP2R5D):c.751G>T (p.Asp251Tyr)
|
rs1762178916
|
|
NM_006260.5(DNAJC3):c.1296_1300del (p.Lys433fs)
|
rs1253927514
|
|
NM_006268.5(DPF2):c.1033T>G (p.Cys345Gly)
|
rs1854614432
|
|
NM_006268.5(DPF2):c.1049G>A (p.Arg350His)
|
rs1555032051
|
|
NM_006270.5(RRAS):c.107GCG[5] (p.Gly39dup)
|
rs749539343
|
|
NM_006306.4(SMC1A):c.2351T>C (p.Ile784Thr)
|
rs387906702
|
|
NM_006306.4(SMC1A):c.2368C>T (p.Arg790Trp)
|
rs587784412
|
|
NM_006306.4(SMC1A):c.3197G>A (p.Arg1066His)
|
rs1556886034
|
|
NM_006306.4(SMC1A):c.3578T>G (p.Phe1193Cys)
|
rs869312954
|
|
NM_006361.6(HOXB13):c.853del (p.Ter285LysextTer?)
|
rs77179853
|
|
NM_006397.3(RNASEH2A):c.590A>G (p.Glu197Gly)
|
rs1555734800
|
|
NM_006445.4(PRPF8):c.5792C>T (p.Thr1931Met)
|
rs1911391944
|
|
NM_006516.4(SLC2A1):c.1199G>A (p.Arg400His)
|
rs776095655
|
|
NM_006516.4(SLC2A1):c.881C>T (p.Ser294Phe)
|
rs1557645723
|
|
NM_006565.4(CTCF):c.1169A>T (p.Asp390Val)
|
|
|
NM_006565.4(CTCF):c.782-2A>G
|
rs1555534189
|
|
NM_006593.4(TBR1):c.1588_1594dup (p.Thr532fs)
|
rs869312704
|
|
NM_006593.4(TBR1):c.638T>A (p.Leu213His)
|
|
|
NM_006593.4(TBR1):c.732_734delinsGGTCTGGTTTTAACATT (p.Asp245delinsValTrpPheTer)
|
|
|
NM_006618.5(KDM5B):c.1822-1G>A
|
rs1655690067
|
|
NM_006648.4(WNK2):c.4801dup (p.Asp1601fs)
|
rs757473977
|
|
NM_006734.4(HIVEP2):c.5461C>A (p.His1821Asn)
|
rs1554275655
|
|
NM_006734.4(HIVEP2):c.6516+1G>C
|
rs1775173231
|
|
NM_006744.4(RBP4):c.223G>A (p.Ala75Thr)
|
rs794726861
|
|
NM_006765.4(TUSC3):c.938-8_939del
|
|
|
NM_006766.5(KAT6A):c.3040-1G>T
|
rs1821915703
|
|
NM_006766.5(KAT6A):c.4292dup (p.Leu1431fs)
|
rs786200956
|
|
NM_006767.4(LZTR1):c.1149+1G>A
|
rs767191322
|
|
NM_006767.4(LZTR1):c.1149+1G>C
|
|
|
NM_006767.4(LZTR1):c.1149+1G>T
|
|
|
NM_006767.4(LZTR1):c.1149G>C (p.Glu383Asp)
|
|
|
NM_006767.4(LZTR1):c.1150-1G>T
|
|
|
NM_006767.4(LZTR1):c.1260+1G>T
|
|
|
NM_006767.4(LZTR1):c.1449+1G>C
|
|
|
NM_006767.4(LZTR1):c.1449+1G>T
|
|
|
NM_006767.4(LZTR1):c.1449G>A (p.Gln483=)
|
|
|
NM_006767.4(LZTR1):c.1449G>C (p.Gln483His)
|
|
|
NM_006767.4(LZTR1):c.1615+1G>A
|
|
|
NM_006767.4(LZTR1):c.1616-1G>A
|
|
|
NM_006767.4(LZTR1):c.1616-1G>C
|
|
|
NM_006767.4(LZTR1):c.1616-2A>C
|
|
|
NM_006767.4(LZTR1):c.1616-2A>G
|
rs1328046881
|
|
NM_006767.4(LZTR1):c.1616-2_1616-1delinsCC
|
|
|
NM_006767.4(LZTR1):c.1785+2T>G
|
|
|
NM_006767.4(LZTR1):c.200+1G>T
|
|
|
NM_006767.4(LZTR1):c.200+1dup
|
|
|
NM_006767.4(LZTR1):c.200+2T>A
|
|
|
NM_006767.4(LZTR1):c.200G>C (p.Arg67Pro)
|
|
|
NM_006767.4(LZTR1):c.2069+2T>G
|
|
|
NM_006767.4(LZTR1):c.2070-1G>A
|
|
|
NM_006767.4(LZTR1):c.2070-2A>G
|
rs774954465
|
|
NM_006767.4(LZTR1):c.2325+1G>C
|
|
|
NM_006767.4(LZTR1):c.2348_2351del (p.Thr783fs)
|
rs587777179
|
|
NM_006767.4(LZTR1):c.264-2A>C
|
|
|
NM_006767.4(LZTR1):c.320+1G>A
|
rs943939913
|
|
NM_006767.4(LZTR1):c.320+1G>C
|
rs943939913
|
|
NM_006767.4(LZTR1):c.320+2T>G
|
|
|
NM_006767.4(LZTR1):c.321-1G>A
|
|
|
NM_006767.4(LZTR1):c.400+1G>C
|
rs1555927561
|
|
NM_006767.4(LZTR1):c.401-1G>C
|
rs747225246
|
|
NM_006767.4(LZTR1):c.401-2del
|
|
|
NM_006767.4(LZTR1):c.509G>T (p.Arg170Leu)
|
rs781431741
|
|
NM_006767.4(LZTR1):c.50_51del (p.Ala17fs)
|
|
|
NM_006767.4(LZTR1):c.577T>C (p.Tyr193His)
|
rs2147962725
|
|
NM_006767.4(LZTR1):c.594-1G>C
|
|
|
NM_006767.4(LZTR1):c.594-3C>G
|
|
|
NM_006767.4(LZTR1):c.651+1G>A
|
|
|
NM_006767.4(LZTR1):c.651G>A (p.Glu217=)
|
|
|
NM_006767.4(LZTR1):c.652-1G>A
|
|
|
NM_006767.4(LZTR1):c.652-2A>C
|
|
|
NM_006767.4(LZTR1):c.791+1G>A
|
rs148031742
|
|
NM_006767.4(LZTR1):c.791+1G>T
|
|
|
NM_006767.4(LZTR1):c.792-1G>A
|
|
|
NM_006767.4(LZTR1):c.792-2A>G
|
|
|
NM_006767.4(LZTR1):c.993+2T>G
|
|
|
NM_006767.4(LZTR1):c.994-1G>A
|
|
|
NM_006767.4(LZTR1):c.994-1G>T
|
rs758238174
|
|
NM_006767.4(LZTR1):c.994-2A>G
|
|
|
NM_006772.3(SYNGAP1):c.1386+1G>A
|
|
|
NM_006772.3(SYNGAP1):c.1387-8G>A
|
rs1409847091
|
|
NM_006772.3(SYNGAP1):c.1531G>A (p.Gly511Arg)
|
|
|
NM_006772.3(SYNGAP1):c.1685C>T (p.Pro562Leu)
|
rs397514670
|
|
NM_006772.3(SYNGAP1):c.1718G>T (p.Arg573Leu)
|
rs1554121685
|
|
NM_006772.3(SYNGAP1):c.3794+2T>C
|
rs1395368098
|
|
NM_006772.3(SYNGAP1):c.3794G>C (p.Arg1265Thr)
|
rs1554122763
|
|
NM_006772.3(SYNGAP1):c.859G>T (p.Asp287Tyr)
|
|
|
NM_006885.4(ZFHX3):c.6850C>T (p.Arg2284Ter)
|
rs869312913
|
|
NM_006888.6(CALM1):c.293A>G (p.Asn98Ser)
|
rs267607277
|
|
NM_006912.6(RIT1):c.230C>G (p.Ala77Gly)
|
rs1673399238
|
|
NM_006912.6(RIT1):c.67A>C (p.Lys23Gln)
|
rs869312687
|
|
NM_006914.4(RORB):c.1249_1251del (p.Thr417del)
|
rs869312972
|
|
NM_006914.4(RORB):c.161T>C (p.Ile54Thr)
|
|
|
NM_006922.4(SCN3A):c.5306T>C (p.Val1769Ala)
|
rs1553517274
|
|
NM_006939.4(SOS2):c.1648C>G (p.Arg550Gly)
|
rs1344304906
|
|
NM_006940.6(SOX5):c.1678A>G (p.Met560Val)
|
rs1591908609
|
|
NM_006941.4(SOX10):c.523C>T (p.Pro175Ser)
|
rs1555938395
|
|
NM_006950.3(SYN1):c.635G>T (p.Ser212Ile)
|
rs1556860638
|
|
NM_007118.4(TRIO):c.179_183del (p.Met60fs)
|
rs1795936426
|
|
NM_007118.4(TRIO):c.2391+1G>A
|
|
|
NM_007118.4(TRIO):c.3232C>T (p.Arg1078Trp)
|
|
|
NM_007118.4(TRIO):c.7960A>T (p.Lys2654Ter)
|
rs1756936101
|
|
NM_007126.5(VCP):c.553G>A (p.Glu185Lys)
|
rs864309501
|
|
NM_007144.3(PCGF2):c.193C>T (p.Pro65Ser)
|
rs1567941256
|
|
NM_007194.3:c.(319+1_320-1)_(846+1_847-1)dup
|
|
|
NM_007194.3:c.(846+1_847-1)_(908+1_909-1)dup
|
|
|
NM_007194.3:c.966_967insSVA
|
|
|
NM_007194.4(CHEK2):c.1008+1G>A
|
rs1555915298
|
|
NM_007194.4(CHEK2):c.1008+1G>T
|
rs1555915298
|
|
NM_007194.4(CHEK2):c.1008+2T>G
|
rs1555915295
|
|
NM_007194.4(CHEK2):c.1009-2A>G
|
rs766158073
|
|
NM_007194.4(CHEK2):c.1095+1G>A
|
rs768172525
|
|
NM_007194.4(CHEK2):c.1095+2dup
|
|
|
NM_007194.4(CHEK2):c.1096-1G>A
|
rs1060502716
|
|
NM_007194.4(CHEK2):c.1096-1G>C
|
rs1060502716
|
|
NM_007194.4(CHEK2):c.1096-3_1098del
|
rs876659838
|
|
NM_007194.4(CHEK2):c.1169A>G (p.Tyr390Cys)
|
rs200928781
|
|
NM_007194.4(CHEK2):c.1259+1G>A
|
rs121908707
|
|
NM_007194.4(CHEK2):c.1259+1G>C
|
rs121908707
|
|
NM_007194.4(CHEK2):c.1375+1G>C
|
rs759706360
|
|
NM_007194.4(CHEK2):c.1375+1_1375+2del
|
rs876660801
|
|
NM_007194.4(CHEK2):c.1376-1G>A
|
rs876659287
|
|
NM_007194.4(CHEK2):c.1376-1G>C
|
rs876659287
|
|
NM_007194.4(CHEK2):c.1376-21_1382del
|
|
|
NM_007194.4(CHEK2):c.1376-27C>G
|
|
|
NM_007194.4(CHEK2):c.1376-2A>C
|
|
|
NM_007194.4(CHEK2):c.1376-2A>G
|
rs2145786737
|
|
NM_007194.4(CHEK2):c.1408_1461+209del
|
|
|
NM_007194.4(CHEK2):c.1461+1G>A
|
rs886039629
|
|
NM_007194.4(CHEK2):c.1461+1G>T
|
rs886039629
|
|
NM_007194.4(CHEK2):c.1461+2T>C
|
rs779844113
|
|
NM_007194.4(CHEK2):c.1462-10_1472del
|
|
|
NM_007194.4(CHEK2):c.1462-2A>G
|
rs587782575
|
|
NM_007194.4(CHEK2):c.1476del (p.Arg493fs)
|
|
|
NM_007194.4(CHEK2):c.1492_1496del (p.Leu498fs)
|
rs1555912044
|
|
NM_007194.4(CHEK2):c.1492del (p.Leu498fs)
|
rs2052245881
|
|
NM_007194.4(CHEK2):c.1510G>T (p.Glu504Ter)
|
rs587782489
|
|
NM_007194.4(CHEK2):c.1542+3A>G
|
rs1060502722
|
|
NM_007194.4(CHEK2):c.1543-11_1543-2del
|
rs2145739661
|
|
NM_007194.4(CHEK2):c.1543-2A>C
|
rs1160973224
|
|
NM_007194.4(CHEK2):c.1546del (p.Ser516fs)
|
rs1555911636
|
|
NM_007194.4(CHEK2):c.1547del (p.Ser516fs)
|
rs1555911635
|
|
NM_007194.4(CHEK2):c.1558_1559insC (p.Lys520fs)
|
rs876658646
|
|
NM_007194.4(CHEK2):c.319+1G>T
|
rs765080766
|
|
NM_007194.4(CHEK2):c.319+1del
|
|
|
NM_007194.4(CHEK2):c.320-10_375del
|
|
|
NM_007194.4(CHEK2):c.320-1801_592+317dup
|
|
|
NM_007194.4(CHEK2):c.320-1843_592+340dup
|
|
|
NM_007194.4(CHEK2):c.320-1G>C
|
rs864622613
|
|
NM_007194.4(CHEK2):c.320-1G>T
|
rs864622613
|
|
NM_007194.4(CHEK2):c.320-2048_593-1211dup
|
|
|
NM_007194.4(CHEK2):c.401A>G (p.Asp134Gly)
|
rs1404473412
|
|
NM_007194.4(CHEK2):c.444+1G>T
|
rs121908698
|
|
NM_007194.4(CHEK2):c.444+1del
|
rs1064793780
|
|
NM_007194.4(CHEK2):c.444+2T>C
|
rs560596101
|
|
NM_007194.4(CHEK2):c.445-1G>A
|
rs587782830
|
|
NM_007194.4(CHEK2):c.445-1G>C
|
rs587782830
|
|
NM_007194.4(CHEK2):c.445-8_446del
|
rs2146062270
|
|
NM_007194.4(CHEK2):c.480AGA[1] (p.Glu161del)
|
rs587782008
|
|
NM_007194.4(CHEK2):c.592+1G>C
|
rs1601822722
|
|
NM_007194.4(CHEK2):c.592+2T>C
|
rs1601822717
|
|
NM_007194.4(CHEK2):c.592+2T>G
|
|
|
NM_007194.4(CHEK2):c.592G>A (p.Val198Ile)
|
rs1555926708
|
|
NM_007194.4(CHEK2):c.593-1G>A
|
rs786203229
|
|
NM_007194.4(CHEK2):c.593-1G>T
|
rs786203229
|
|
NM_007194.4(CHEK2):c.683+1G>A
|
rs786203650
|
|
NM_007194.4(CHEK2):c.683+1G>T
|
rs786203650
|
|
NM_007194.4(CHEK2):c.683+2T>A
|
rs781021132
|
|
NM_007194.4(CHEK2):c.684-1G>A
|
rs1298667185
|
|
NM_007194.4(CHEK2):c.684-1G>T
|
rs1298667185
|
|
NM_007194.4(CHEK2):c.684-2A>G
|
rs2053419665
|
|
NM_007194.4(CHEK2):c.684-3_684-2del
|
|
|
NM_007194.4(CHEK2):c.792+1G>A
|
rs1555921011
|
|
NM_007194.4(CHEK2):c.793-1G>T
|
rs730881687
|
|
NM_007194.4(CHEK2):c.846+1G>A
|
rs864622149
|
|
NM_007194.4(CHEK2):c.846+1G>T
|
rs864622149
|
|
NM_007194.4(CHEK2):c.846+1_846+2del
|
|
|
NM_007194.4(CHEK2):c.846+2T>C
|
rs1601777275
|
|
NM_007194.4(CHEK2):c.846+4_846+7del
|
rs764884641
|
|
NM_007194.4(CHEK2):c.847-14_847-2del
|
rs1293617484
|
|
NM_007194.4(CHEK2):c.847-14_847-2delinsGG
|
rs1555917041
|
|
NM_007194.4(CHEK2):c.847-1G>A
|
rs878854926
|
|
NM_007194.4(CHEK2):c.847-2A>G
|
rs1601753141
|
|
NM_007194.4(CHEK2):c.908+1G>A
|
rs587781699
|
|
NM_007194.4(CHEK2):c.908+1G>T
|
rs587781699
|
|
NM_007194.4(CHEK2):c.908+1_908+8delinsTT
|
rs1569127917
|
|
NM_007194.4(CHEK2):c.908+2T>G
|
|
|
NM_007194.4(CHEK2):c.908+3A>T
|
rs1601752050
|
|
NM_007194.4(CHEK2):c.908+5G>A
|
rs1064796016
|
|
NM_007194.4(CHEK2):c.909-1G>A
|
rs886039721
|
|
NM_007194.4(CHEK2):c.909-2A>G
|
rs1555915589
|
|
NM_007254.4(PNKP):c.1385G>C (p.Arg462Pro)
|
rs376854895
|
|
NM_007254.4(PNKP):c.937-2A>G
|
rs1568660279
|
|
NM_007272.3(CTRC):c.129G>A (p.Trp43Ter)
|
|
|
NM_007272.3(CTRC):c.2T>C (p.Met1Thr)
|
|
|
NM_007272.3(CTRC):c.627dup (p.Ser210fs)
|
|
|
NM_007272.3(CTRC):c.649G>C (p.Gly217Arg)
|
rs202058123
|
|
NM_007279.3(U2AF2):c.449G>A (p.Arg150His)
|
|
|
NM_007294.3(BRCA1):c.5193+3_5193+15del
|
rs273901752
|
|
NM_007294.3(BRCA1):c.5408delG
|
|
|
NM_007294.3:c.(134+1_135-1)_(593+1_594-1)dup
|
|
|
NM_007294.3:c.(4986+1_4987-1)_(5074+1_5075-1)dup
|
|
|
NM_007294.3:c.1569_1570insSVA
|
|
|
NM_007294.3:c.2692_2693insALU
|
|
|
NM_007294.4(BRCA1):c.100C>T (p.Pro34Ser)
|
rs1064793357
|
|
NM_007294.4(BRCA1):c.101C>G (p.Pro34Arg)
|
rs786203319
|
|
NM_007294.4(BRCA1):c.101C>T (p.Pro34Leu)
|
rs786203319
|
|
NM_007294.4(BRCA1):c.121C>A (p.His41Asn)
|
rs1060502353
|
|
NM_007294.4(BRCA1):c.121C>T (p.His41Tyr)
|
rs1060502353
|
|
NM_007294.4(BRCA1):c.132C>T (p.Cys44=)
|
rs876658362
|
|
NM_007294.4(BRCA1):c.134+1G>T
|
rs80358043
|
|
NM_007294.4(BRCA1):c.134+3_134+6del
|
rs397508858
|
|
NM_007294.4(BRCA1):c.208_212+22del
|
rs1555597152
|
|
NM_007294.4(BRCA1):c.211A>T (p.Arg71Trp)
|
rs80357382
|
|
NM_007294.4(BRCA1):c.212+1del
|
rs786203526
|
|
NM_007294.4(BRCA1):c.212+2T>C
|
rs80358026
|
|
NM_007294.4(BRCA1):c.212G>T (p.Arg71Met)
|
rs80356913
|
|
NM_007294.4(BRCA1):c.213-7A>G
|
rs2054700180
|
|
NM_007294.4(BRCA1):c.231G>T (p.Thr77=)
|
rs80356847
|
|
NM_007294.4(BRCA1):c.247G>T (p.Val83Phe)
|
rs1060502343
|
|
NM_007294.4(BRCA1):c.284T>C (p.Leu95Pro)
|
rs2054675041
|
|
NM_007294.4(BRCA1):c.286G>C (p.Asp96His)
|
rs80357110
|
|
NM_007294.4(BRCA1):c.302-1G>A
|
rs80358116
|
|
NM_007294.4(BRCA1):c.302-1G>C
|
rs80358116
|
|
NM_007294.4(BRCA1):c.302-1G>T
|
rs80358116
|
|
NM_007294.4(BRCA1):c.302-2A>C
|
rs80358011
|
|
NM_007294.4(BRCA1):c.302-2A>G
|
rs80358011
|
|
NM_007294.4(BRCA1):c.32T>G (p.Val11Gly)
|
rs80357017
|
|
NM_007294.4(BRCA1):c.4097-1G>A
|
rs80358070
|
|
NM_007294.4(BRCA1):c.4097-20_4134del
|
rs2053440925
|
|
NM_007294.4(BRCA1):c.4185G>C (p.Gln1395His)
|
rs80356857
|
|
NM_007294.4(BRCA1):c.4232T>C (p.Met1411Thr)
|
rs273900729
|
|
NM_007294.4(BRCA1):c.441+1G>A
|
rs397509172
|
|
NM_007294.4(BRCA1):c.441+1G>C
|
|
|
NM_007294.4(BRCA1):c.441+2T>A
|
rs397509173
|
|
NM_007294.4(BRCA1):c.441+2T>C
|
rs397509173
|
|
NM_007294.4(BRCA1):c.4676-1G>A
|
rs80358008
|
|
NM_007294.4(BRCA1):c.4676-1G>C
|
rs80358008
|
|
NM_007294.4(BRCA1):c.4676-2A>G
|
rs80358096
|
|
NM_007294.4(BRCA1):c.4964C>T (p.Ser1655Phe)
|
rs80357390
|
|
NM_007294.4(BRCA1):c.4970T>C (p.Leu1657Pro)
|
rs1597830263
|
|
NM_007294.4(BRCA1):c.4986+4A>T
|
rs80358087
|
|
NM_007294.4(BRCA1):c.4986+6T>G
|
rs80358086
|
|
NM_007294.4(BRCA1):c.4987-1G>C
|
rs730881495
|
|
NM_007294.4(BRCA1):c.4987-2A>C
|
rs397509212
|
|
NM_007294.4(BRCA1):c.4987-2A>G
|
rs397509212
|
|
NM_007294.4(BRCA1):c.4987-3C>A
|
rs397509213
|
|
NM_007294.4(BRCA1):c.4987-5T>A
|
rs397509214
|
|
NM_007294.4(BRCA1):c.4987-6T>A
|
rs2052193063
|
|
NM_007294.4(BRCA1):c.4987-7A>G
|
rs1025136518
|
|
NM_007294.4(BRCA1):c.5003T>C (p.Phe1668Ser)
|
rs1567772408
|
|
NM_007294.4(BRCA1):c.5014CAC[1] (p.His1673del)
|
rs80358343
|
|
NM_007294.4(BRCA1):c.5054_5074+3del
|
|
|
NM_007294.4(BRCA1):c.5057A>G (p.His1686Arg)
|
rs730882166
|
|
NM_007294.4(BRCA1):c.5066T>A (p.Met1689Lys)
|
rs80357061
|
|
NM_007294.4(BRCA1):c.5072C>A (p.Thr1691Lys)
|
rs80357034
|
|
NM_007294.4(BRCA1):c.5072C>G (p.Thr1691Arg)
|
rs80357034
|
|
NM_007294.4(BRCA1):c.5074+3A>G
|
rs80358181
|
|
NM_007294.4(BRCA1):c.5074+3A>T
|
rs80358181
|
|
NM_007294.4(BRCA1):c.5075-1G>T
|
rs1800747
|
|
NM_007294.4(BRCA1):c.5075-8T>G
|
rs397509221
|
|
NM_007294.4(BRCA1):c.5075A>T (p.Asp1692Val)
|
rs397509222
|
|
NM_007294.4(BRCA1):c.5078_5080del (p.Ala1693del)
|
rs80358345
|
|
NM_007294.4(BRCA1):c.5089T>C (p.Cys1697Arg)
|
rs80356993
|
|
NM_007294.4(BRCA1):c.5090G>A (p.Cys1697Tyr)
|
rs397507241
|
|
NM_007294.4(BRCA1):c.5099C>T (p.Thr1700Ile)
|
rs2051927197
|
|
NM_007294.4(BRCA1):c.5104A>C (p.Lys1702Gln)
|
rs2051925024
|
|
NM_007294.4(BRCA1):c.5105A>T (p.Lys1702Ile)
|
rs2051924695
|
|
NM_007294.4(BRCA1):c.5108A>G (p.Tyr1703Cys)
|
rs876660071
|
|
NM_007294.4(BRCA1):c.5114T>C (p.Leu1705Pro)
|
rs397507242
|
|
NM_007294.4(BRCA1):c.5116G>A (p.Gly1706Arg)
|
rs886040864
|
|
NM_007294.4(BRCA1):c.5117G>A (p.Gly1706Glu)
|
rs80356860
|
|
NM_007294.4(BRCA1):c.5137G>T (p.Val1713Leu)
|
rs1064793309
|
|
NM_007294.4(BRCA1):c.5138T>C (p.Val1713Ala)
|
rs80357132
|
|
NM_007294.4(BRCA1):c.5140G>T (p.Val1714Phe)
|
rs1567769244
|
|
NM_007294.4(BRCA1):c.5143A>T (p.Ser1715Cys)
|
rs80357222
|
|
NM_007294.4(BRCA1):c.5145C>G (p.Ser1715Arg)
|
rs80357094
|
|
NM_007294.4(BRCA1):c.5152+4A>G
|
rs397509232
|
|
NM_007294.4(BRCA1):c.5152+5G>T
|
rs80358165
|
|
NM_007294.4(BRCA1):c.5152T>G (p.Trp1718Gly)
|
rs1567769155
|
|
NM_007294.4(BRCA1):c.5153-16_5156delinsAATA
|
rs587781526
|
|
NM_007294.4(BRCA1):c.5153-2A>G
|
rs786202545
|
|
NM_007294.4(BRCA1):c.5154G>T (p.Trp1718Cys)
|
rs80357239
|
|
NM_007294.4(BRCA1):c.5156T>G (p.Val1719Gly)
|
rs1247437511
|
|
NM_007294.4(BRCA1):c.5164T>C (p.Ser1722Pro)
|
rs483353100
|
|
NM_007294.4(BRCA1):c.5165C>A (p.Ser1722Tyr)
|
rs80357104
|
|
NM_007294.4(BRCA1):c.5194-2A>C
|
rs80358069
|
|
NM_007294.4(BRCA1):c.5202T>G (p.Phe1734Leu)
|
rs869320780
|
|
NM_007294.4(BRCA1):c.5210GAG[1] (p.Gly1738del)
|
rs80358347
|
|
NM_007294.4(BRCA1):c.5215G>C (p.Asp1739His)
|
rs80357283
|
|
NM_007294.4(BRCA1):c.5216A>G (p.Asp1739Gly)
|
rs80357227
|
|
NM_007294.4(BRCA1):c.5217T>G (p.Asp1739Glu)
|
rs80357340
|
|
NM_007294.4(BRCA1):c.5236C>G (p.His1746Asp)
|
rs80357146
|
|
NM_007294.4(BRCA1):c.5242G>C (p.Gly1748Arg)
|
rs397507245
|
|
NM_007294.4(BRCA1):c.5242G>T (p.Gly1748Cys)
|
rs397507245
|
|
NM_007294.4(BRCA1):c.5252G>C (p.Arg1751Pro)
|
rs80357442
|
|
NM_007294.4(BRCA1):c.5254G>A (p.Ala1752Thr)
|
rs80357074
|
|
NM_007294.4(BRCA1):c.5277+1_5277+6del
|
rs1060502356
|
|
NM_007294.4(BRCA1):c.5277+2T>G
|
rs2051494815
|
|
NM_007294.4(BRCA1):c.5278-2A>G
|
rs397509253
|
|
NM_007294.4(BRCA1):c.5278-2A>T
|
rs397509253
|
|
NM_007294.4(BRCA1):c.5282T>C (p.Phe1761Ser)
|
rs80356905
|
|
NM_007294.4(BRCA1):c.5288G>T (p.Gly1763Val)
|
rs80357007
|
|
NM_007294.4(BRCA1):c.5291T>C (p.Leu1764Pro)
|
rs80357281
|
|
NM_007294.4(BRCA1):c.5323A>G (p.Met1775Val)
|
rs2051198464
|
|
NM_007294.4(BRCA1):c.5324T>A (p.Met1775Lys)
|
rs41293463
|
|
NM_007294.4(BRCA1):c.5332G>A (p.Asp1778Asn)
|
rs80357112
|
|
NM_007294.4(BRCA1):c.5339T>G (p.Leu1780Arg)
|
rs80357474
|
|
NM_007294.4(BRCA1):c.5352dup (p.Gln1785fs)
|
rs80357744
|
|
NM_007294.4(BRCA1):c.5357T>C (p.Leu1786Pro)
|
rs398122697
|
|
NM_007294.4(BRCA1):c.5362G>T (p.Gly1788Cys)
|
rs397509271
|
|
NM_007294.4(BRCA1):c.5366C>T (p.Ala1789Val)
|
rs2051085308
|
|
NM_007294.4(BRCA1):c.536_547+209delinsTCACCTTGAAGAATCTTACTTTAAAAAGGGAGCAAAAGAGGCCAGGCATGGT
|
|
|
NM_007294.4(BRCA1):c.53T>C (p.Met18Thr)
|
rs80356929
|
|
NM_007294.4(BRCA1):c.5406+5G>A
|
rs80358073
|
|
NM_007294.4(BRCA1):c.5406del (p.Gly1803fs)
|
|
|
NM_007294.4(BRCA1):c.5407-1G>C
|
rs80358029
|
|
NM_007294.4(BRCA1):c.5408G>C (p.Gly1803Ala)
|
rs80357149
|
|
NM_007294.4(BRCA1):c.5426T>A (p.Val1809Asp)
|
rs80357216
|
|
NM_007294.4(BRCA1):c.5432A>G (p.Gln1811Arg)
|
rs80357040
|
|
NM_007294.4(BRCA1):c.5467G>C (p.Ala1823Pro)
|
rs80357212
|
|
NM_007294.4(BRCA1):c.5468-2A>G
|
rs398122699
|
|
NM_007294.4(BRCA1):c.5468-2A>T
|
rs398122699
|
|
NM_007294.4(BRCA1):c.5497G>A (p.Val1833Met)
|
rs80357268
|
|
NM_007294.4(BRCA1):c.5503dup (p.Arg1835fs)
|
rs397509291
|
|
NM_007294.4(BRCA1):c.5509T>C (p.Trp1837Arg)
|
rs80356959
|
|
NM_007294.4(BRCA1):c.5509T>G (p.Trp1837Gly)
|
rs80356959
|
|
NM_007294.4(BRCA1):c.5511G>T (p.Trp1837Cys)
|
rs80356914
|
|
NM_007294.4(BRCA1):c.5513T>A (p.Val1838Glu)
|
rs80357107
|
|
NM_007294.4(BRCA1):c.5516T>C (p.Leu1839Ser)
|
rs398122702
|
|
NM_007294.4(BRCA1):c.5522G>A (p.Ser1841Asn)
|
rs80357368
|
|
NM_007294.4(BRCA1):c.5522G>C (p.Ser1841Thr)
|
rs80357368
|
|
NM_007294.4(BRCA1):c.5527G>C (p.Ala1843Pro)
|
rs80357019
|
|
NM_007294.4(BRCA1):c.5528C>A (p.Ala1843Glu)
|
rs730881447
|
|
NM_007294.4(BRCA1):c.5545G>T (p.Glu1849Ter)
|
rs2050864747
|
|
NM_007294.4(BRCA1):c.5558A>C (p.Tyr1853Ser)
|
rs80357258
|
|
NM_007294.4(BRCA1):c.5561T>C (p.Leu1854Pro)
|
rs80356996
|
|
NM_007294.4(BRCA1):c.5569del (p.Gln1857fs)
|
rs886039675
|
|
NM_007294.4(BRCA1):c.56A>C (p.Gln19Pro)
|
rs2055725680
|
|
NM_007294.4(BRCA1):c.594_597delTGTG
|
rs797045175
|
|
NM_007294.4(BRCA1):c.65T>C (p.Leu22Ser)
|
rs80357438
|
|
NM_007294.4(BRCA1):c.671-1G>C
|
rs80358020
|
|
NM_007294.4(BRCA1):c.671-1G>T
|
rs80358020
|
|
NM_007294.4(BRCA1):c.671-2A>G
|
rs80358108
|
|
NM_007294.4(BRCA1):c.74C>T (p.Pro25Leu)
|
rs876660096
|
|
NM_007294.4(BRCA1):c.779A>G (p.Lys260Arg)
|
rs2054049431
|
|
NM_007294.4(BRCA1):c.80G>A (p.Cys27Tyr)
|
rs1064793052
|
|
NM_007294.4(BRCA1):c.80G>T (p.Cys27Phe)
|
rs1064793052
|
|
NM_007294.4(BRCA1):c.81-2A>G
|
rs397509326
|
|
NM_007294.4(BRCA1):c.81-6T>A
|
rs80358179
|
|
NM_007294.4(BRCA1):c.83T>C (p.Leu28Pro)
|
rs80357266
|
|
NM_007317.3(KIF22):c.443C>T (p.Pro148Leu)
|
rs193922921
|
|
NM_007325.5(GRIA3):c.1502G>C (p.Arg501Thr)
|
rs1556317780
|
|
NM_007325.5(GRIA3):c.2167_2175del (p.Ala723_Val725del)
|
|
|
NM_007327.4(GRIN1):c.1852G>C (p.Gly618Arg)
|
rs1833614590
|
|
NM_007327.4(GRIN1):c.1858G>C (p.Gly620Arg)
|
rs797045047
|
|
NM_007327.4(GRIN1):c.1979C>T (p.Pro660Leu)
|
rs1328780843
|
|
NM_007373.4(SHOC2):c.519G>A (p.Met173Ile)
|
rs730881020
|
|
NM_012062.5(DNM1L):c.1228G>A (p.Glu410Lys)
|
rs1954544114
|
|
NM_012199.5(AGO1):c.1354G>A (p.Ala452Thr)
|
|
|
NM_012199.5(AGO1):c.536TCT[1] (p.Phe180del)
|
rs1553154062
|
|
NM_012202.5(GNG3):c.12_13dup (p.Thr5fs)
|
rs2083577399
|
|
NM_012243.3(SLC35A3):c.21C>G (p.Tyr7Ter)
|
rs775151826
|
|
NM_012280.4(FTSJ1):c.161G>C (p.Ser54Thr)
|
rs1556967227
|
|
NM_012281.3(KCND2):c.1208C>T (p.Pro403Leu)
|
rs750457269
|
|
NM_013275.6(ANKRD11):c.7388C>G (p.Pro2463Arg)
|
|
|
NM_013275.6(ANKRD11):c.7534C>T (p.Arg2512Trp)
|
rs2033536147
|
|
NM_013436.5(NCKAP1):c.3165_3176del (p.Lys1056_Leu1059del)
|
|
|
NM_014225.6(PPP2R1A):c.548G>C (p.Arg183Pro)
|
rs1057519947
|
|
NM_014271.4(IL1RAPL1):c.1489C>T (p.Arg497Ter)
|
rs144365564
|
|
NM_014362.4(HIBCH):c.371T>C (p.Leu124Pro)
|
rs1553505302
|
|
NM_014363.6(SACS):c.12923_12927del (p.Lys4308fs)
|
rs1057517294
|
|
NM_014365.3(HSPB8):c.515dup (p.Pro173fs)
|
rs1954727159
|
|
NM_014489.4(PGAP2):c.732dup (p.Gln245fs)
|
rs771218491
|
|
NM_014795.4(ZEB2):c.3211T>C (p.Ser1071Pro)
|
rs397515448
|
|
NM_014822.4(SEC24D):c.1980_1988del (p.Lys660_Asn662del)
|
rs1726363887
|
|
NM_014845.6(FIG4):c.1389-1G>C
|
|
|
NM_014845.6(FIG4):c.1749_1750+7del
|
rs1777296419
|
|
NM_014845.6(FIG4):c.289+2T>C
|
|
|
NM_014846.4(WASHC5):c.1876G>T (p.Val626Phe)
|
rs80338867
|
|
NM_014855.3(AP5Z1):c.1707+1G>A
|
|
|
NM_014874.4(MFN2):c.1091G>A (p.Arg364Gln)
|
rs879254011
|
|
NM_014874.4(MFN2):c.1126A>G (p.Met376Val)
|
rs863224967
|
|
NM_014874.4(MFN2):c.775C>T (p.Arg259Cys)
|
rs587777875
|
|
NM_014908.4(DOLK):c.1275del (p.Cys426fs)
|
rs1401485925
|
|
NM_014908.4(DOLK):c.991C>T (p.Gln331Ter)
|
|
|
NM_014946.4(SPAST):c.1032A>G (p.Ile344Met)
|
|
|
NM_014946.4(SPAST):c.1206CTT[1] (p.Phe404del)
|
rs1553317028
|
|
NM_014946.4(SPAST):c.1459A>G (p.Asn487Asp)
|
rs1553318323
|
|
NM_014946.4(SPAST):c.1496G>A (p.Arg499His)
|
rs878854991
|
|
NM_014946.4(SPAST):c.1634C>G (p.Ser545Ter)
|
rs869312949
|
|
NM_015015.3(KDM4B):c.2303A>G (p.His768Arg)
|
rs2039634438
|
|
NM_015021.3(ZNF292):c.5515_5569del (p.Glu1839fs)
|
rs1775415071
|
|
NM_015021.3(ZNF292):c.6113_6114del (p.Val2038fs)
|
|
|
NM_015021.3(ZNF292):c.6661_6664del (p.Leu2221fs)
|
rs1775494843
|
|
NM_015039.4(NMNAT2):c.403dup (p.Gln135fs)
|
rs775499191
|
|
NM_015046.7(SETX):c.340CTT[1] (p.Leu115del)
|
rs587776537
|
|
NM_015047.3(EMC1):c.1751C>A (p.Pro584His)
|
rs1553252938
|
|
NM_015100.4(POGZ):c.3456_3457del (p.Glu1154fs)
|
rs869320764
|
|
NM_015100.4(POGZ):c.3528C>A (p.Tyr1176Ter)
|
|
|
NM_015100.4(POGZ):c.3591_3592del (p.Ser1197fs)
|
rs1653397845
|
|
NM_015100.4(POGZ):c.568+2T>C
|
|
|
NM_015178.3(RHOBTB2):c.1382G>A (p.Arg461His)
|
rs1554504663
|
|
NM_015178.3(RHOBTB2):c.1462A>G (p.Asn488Asp)
|
rs1554504678
|
|
NM_015189.3(EXOC6B):c.1801-2A>G
|
rs1553417206
|
|
NM_015215.4(CAMTA1):c.2915-2A>G
|
|
|
NM_015259.6(ICOSLG):c.55+1G>T
|
rs1165558487
|
|
NM_015330.6(SPECC1L):c.1324_1326del (p.Lys442del)
|
rs2040737476
|
|
NM_015335.5(MED13L):c.2605C>T (p.Pro869Ser)
|
rs1057524103
|
|
NM_015335.5(MED13L):c.3935-2A>G
|
rs1555244216
|
|
NM_015335.5(MED13L):c.5033T>A (p.Val1678Asp)
|
rs1555243099
|
|
NM_015346.4(ZFYVE26):c.195-2A>G
|
|
|
NM_015443.4(KANSL1):c.2837+1G>A
|
rs2077054270
|
|
NM_015450.3(POT1):c.10-2A>C
|
rs1554434788
|
|
NM_015450.3(POT1):c.108T>G (p.Tyr36Ter)
|
|
|
NM_015450.3(POT1):c.1163+1G>A
|
rs1562981766
|
|
NM_015450.3(POT1):c.124+1G>A
|
|
|
NM_015450.3(POT1):c.125-2A>G
|
rs1562997292
|
|
NM_015450.3(POT1):c.126T>G (p.Asp42Glu)
|
rs1554429221
|
|
NM_015450.3(POT1):c.1369+1G>A
|
|
|
NM_015450.3(POT1):c.1369+1G>T
|
|
|
NM_015450.3(POT1):c.1792+1G>A
|
rs1562972354
|
|
NM_015450.3(POT1):c.1851_1852del (p.Asp617fs)
|
rs758673417
|
|
NM_015450.3(POT1):c.1A>G (p.Met1Val)
|
rs1584510207
|
|
NM_015450.3(POT1):c.255+1G>A
|
rs1584777699
|
|
NM_015450.3(POT1):c.255+1G>T
|
rs1584777699
|
|
NM_015450.3(POT1):c.266A>G (p.Tyr89Cys)
|
rs587777472
|
|
NM_015450.3(POT1):c.2dup (p.Met1fs)
|
|
|
NM_015450.3(POT1):c.33_34dup (p.Thr12fs)
|
|
|
NM_015450.3(POT1):c.347C>T (p.Pro116Leu)
|
rs1554426966
|
|
NM_015450.3(POT1):c.349C>T (p.Arg117Cys)
|
rs780936436
|
|
NM_015450.3(POT1):c.79G>C (p.Gly27Arg)
|
rs1584791977
|
|
NM_015450.3(POT1):c.818G>A (p.Arg273Gln)
|
rs587777476
|
|
NM_015450.3(POT1):c.9+1G>A
|
|
|
NM_015474.4(SAMHD1):c.349-6_354del
|
|
|
NM_015559.3(SETBP1):c.4000+2T>G
|
rs2071410989
|
|
NM_015627.3(LDLRAP1):c.748-608G>A
|
|
|
NM_015662.3(IFT172):c.2976-2A>T
|
|
|
NM_015874.6(RBPJ):c.130C>G (p.Gln44Glu)
|
rs1553878198
|
|
NM_015915.5(ATL1):c.1220A>T (p.Lys407Met)
|
rs2039539459
|
|
NM_015915.5(ATL1):c.1243C>T (p.Arg415Trp)
|
rs119476050
|
|
NM_016120.4(RLIM):c.1159C>T (p.Arg387Cys)
|
rs1569309776
|
|
NM_016156.6(MTMR2):c.1746del (p.Arg582fs)
|
|
|
NM_016156.6(MTMR2):c.1810C>T (p.Arg604Ter)
|
rs138746296
|
|
NM_016169.4(SUFU):c.597+1G>A
|
rs1590062006
|
|
NM_016169.4(SUFU):c.683+5G>A
|
|
|
NM_016169.4(SUFU):c.739_756+12del
|
|
|
NM_016169.4(SUFU):c.911-8C>A
|
|
|
NM_016203.4(PRKAG2):c.905G>C (p.Arg302Pro)
|
rs121908987
|
|
NM_016219.5(MAN1B1):c.620+1del
|
rs1564278864
|
|
NM_016239.4(MYO15A):c.4547T>G (p.Leu1516Arg)
|
rs1555543296
|
|
NM_016532.4(INPP5K):c.1229_1230del (p.Phe410fs)
|
|
|
NM_016729.3(FOLR1):c.639G>A (p.Trp213Ter)
|
rs757554598
|
|
NM_016734.3(PAX5):c.419G>A (p.Arg140Gln)
|
rs2132424384
|
|
NM_016938.5(EFEMP2):c.1171-2_1195del
|
|
|
NM_016955.4(SEPSECS):c.355A>G (p.Asn119Asp)
|
rs1553881788
|
|
NM_017415.3(KLHL3):c.1079G>A (p.Arg360Gln)
|
rs1561586322
|
|
NM_017635.5(KMT5B):c.970T>G (p.Cys324Gly)
|
rs1555027828
|
|
NM_017636.4(TRPM4):c.1127T>C (p.Ile376Thr)
|
rs2122839457
|
|
NM_017646.6(TRIT1):c.22C>T (p.Arg8Ter)
|
rs184469579
|
|
NM_017654.4(SAMD9):c.1228T>G (p.Tyr410Asp)
|
|
|
NM_017721.5(CC2D1A):c.61-2A>G
|
|
|
NM_017780.4(CHD7):c.2613+1G>A
|
rs587783432
|
|
NM_017780.4(CHD7):c.2958-3A>G
|
|
|
NM_017780.4(CHD7):c.3059T>C (p.Leu1020Ser)
|
rs1057521077
|
|
NM_017780.4(CHD7):c.3201+1G>T
|
rs1804103264
|
|
NM_017780.4(CHD7):c.4644+5G>T
|
|
|
NM_017780.4(CHD7):c.4645-1G>C
|
|
|
NM_017780.4(CHD7):c.5405-17G>A
|
rs794727423
|
|
NM_017841.4(SDHAF2):c.233G>A (p.Gly78Glu)
|
rs1590764905
|
|
NM_017841.4(SDHAF2):c.260+1G>A
|
rs749527870
|
|
NM_017841.4(SDHAF2):c.315T>A (p.Tyr105Ter)
|
rs750979204
|
|
NM_017841.4(SDHAF2):c.357C>G (p.Tyr119Ter)
|
|
|
NM_017849.3:c.498_499insALU
|
|
|
NM_017849.4(TMEM127):c.245-2del
|
|
|
NM_017849.4(TMEM127):c.2T>G (p.Met1Arg)
|
rs1684398953
|
|
NM_017849.4(TMEM127):c.409+1_409+8del
|
|
|
NM_017849.4(TMEM127):c.410-2A>G
|
rs121908826
|
|
NM_017849.4(TMEM127):c.541dup (p.Ala181fs)
|
|
|
NM_017849.4(TMEM127):c.570del (p.Thr191fs)
|
rs1215337884
|
|
NM_017849.4(TMEM127):c.613del (p.Glu205fs)
|
rs1684144086
|
|
NM_017909.4(RMND1):c.1348T>C (p.Ter450Arg)
|
rs1554340243
|
|
NM_017934.7(PHIP):c.328C>T (p.Arg110Cys)
|
rs768324201
|
|
NM_017946.4(FKBP14):c.467_468del (p.Leu155_Ser156insTer)
|
rs753775062
|
|
NM_017950.4(CCDC40):c.940-1G>C
|
rs2037540861
|
|
NM_018062.4(FANCL):c.1051_1052del (p.Ser351fs)
|
rs750871999
|
|
NM_018116.4(MSTO1):c.1A>C (p.Met1Leu)
|
|
|
NM_018122.5(DARS2):c.549G>A (p.Met183Ile)
|
rs869312930
|
|
NM_018127.7(ELAC2):c.297-2_297-1delinsT
|
rs1060502161
|
|
NM_018194.6(HHAT):c.1A>T (p.Met1Leu)
|
rs1340611668
|
|
NM_018206.6(VPS35):c.1463A>G (p.Gln488Arg)
|
rs797044948
|
|
NM_018486.3(HDAC8):c.467A>G (p.Asn156Ser)
|
|
|
NM_018486.3(HDAC8):c.958G>A (p.Gly320Arg)
|
rs398122909
|
|
NM_018668.5(VPS33B):c.1106-2A>C
|
|
|
NM_018699.4(PRDM5):c.1666C>T (p.Gln556Ter)
|
|
|
NM_018699.4(PRDM5):c.243del (p.Trp81fs)
|
|
|
NM_018718.3(CEP41):c.856C>T (p.Arg286Ter)
|
|
|
NM_018941.4(CLN8):c.92G>A (p.Gly31Asp)
|
rs1366421988
|
|
NM_019042.5(PUS7):c.398+1G>T
|
rs1264890888
|
|
NM_019074.4(DLL4):c.1679_1689del (p.Pro560fs)
|
rs1555393172
|
|
NM_019109.5(ALG1):c.1025A>C (p.Gln342Pro)
|
rs267606651
|
|
NM_019109.5(ALG1):c.115del (p.Val39fs)
|
rs886042130
|
|
NM_019597.5(HNRNPH2):c.629A>G (p.Tyr210Cys)
|
rs1555988422
|
|
NM_019842.4(KCNQ5):c.1039G>A (p.Gly347Ser)
|
rs1554210415
|
|
NM_019842.4(KCNQ5):c.1105C>A (p.Pro369Thr)
|
rs1554210418
|
|
NM_019842.4(KCNQ5):c.1287C>A (p.Ser429Arg)
|
|
|
NM_019892.6(INPP5E):c.1132C>T (p.Arg378Cys)
|
rs121918130
|
|
NM_020247.5(COQ8A):c.1015G>A (p.Ala339Thr)
|
rs755933881
|
|
NM_020247.5(COQ8A):c.1821C>A (p.Tyr607Ter)
|
rs201618750
|
|
NM_020297.4(ABCC9):c.3346C>T (p.Arg1116Cys)
|
rs387907228
|
|
NM_020297.4(ABCC9):c.3796G>A (p.Val1266Met)
|
rs1555179320
|
|
NM_020338.4(ZMIZ1):c.3042dup (p.Glu1015fs)
|
rs1855126420
|
|
NM_020376.4(PNPLA2):c.187+1G>C
|
rs1554975332
|
|
NM_020435.4(GJC2):c.679T>A (p.Phe227Ile)
|
rs1553262546
|
|
NM_020435.4(GJC2):c.83T>C (p.Leu28Pro)
|
rs1553262430
|
|
NM_020533.3(MCOLN1):c.1336G>T (p.Val446Leu)
|
rs754097561
|
|
NM_020699.4(GATAD2B):c.597+1G>A
|
rs1570929867
|
|
NM_020699.4(GATAD2B):c.70C>T (p.Arg24Ter)
|
|
|
NM_020699.4(GATAD2B):c.730-1G>T
|
rs1674522395
|
|
NM_020738.4(KIDINS220):c.4050dup (p.Gln1351fs)
|
|
|
NM_020738.4(KIDINS220):c.4171_4175del (p.Ile1391fs)
|
rs1664160163
|
|
NM_020745.4(AARS2):c.2872C>T (p.Arg958Ter)
|
|
|
NM_020745.4(AARS2):c.2T>C (p.Met1Thr)
|
|
|
NM_020751.3(COG6):c.1166+1G>A
|
|
|
NM_020778.4:c.1178_1179insALU
|
|
|
NM_020778.5(ALPK3):c.1009C>T (p.Gln337Ter)
|
rs1567089714
|
|
NM_020778.5(ALPK3):c.1417dup (p.Gln473fs)
|
rs769139957
|
|
NM_020778.5(ALPK3):c.143+1G>A
|
|
|
NM_020778.5(ALPK3):c.1438del (p.Arg480fs)
|
rs1963653131
|
|
NM_020778.5(ALPK3):c.2464C>T (p.Gln822Ter)
|
|
|
NM_020778.5(ALPK3):c.2920G>T (p.Glu974Ter)
|
|
|
NM_020778.5(ALPK3):c.3231_3232del (p.Asp1077fs)
|
rs2141568790
|
|
NM_020778.5(ALPK3):c.3313del (p.Ala1105fs)
|
|
|
NM_020778.5(ALPK3):c.3649_3662dup (p.Ser1222fs)
|
|
|
NM_020778.5(ALPK3):c.3818-1G>C
|
|
|
NM_020778.5(ALPK3):c.3818-1del
|
|
|
NM_020778.5(ALPK3):c.3884G>A (p.Trp1295Ter)
|
rs2141570234
|
|
NM_020778.5(ALPK3):c.3947_3954dup (p.Val1319fs)
|
|
|
NM_020778.5(ALPK3):c.4564_4565insT (p.Asp1522fs)
|
rs2141574028
|
|
NM_020778.5(ALPK3):c.4582G>T (p.Glu1528Ter)
|
|
|
NM_020778.5(ALPK3):c.4641dup (p.Glu1548Ter)
|
|
|
NM_020778.5(ALPK3):c.571_581dup (p.Glu195fs)
|
rs2141556264
|
|
NM_020778.5(ALPK3):c.678_685dup (p.Gly229delinsAspTer)
|
|
|
NM_020778.5(ALPK3):c.680T>A (p.Leu227Ter)
|
rs2141556463
|
|
NM_020778.5(ALPK3):c.690_697del (p.Gln231fs)
|
|
|
NM_020778.5(ALPK3):c.801_810delinsACCTGA (p.Asn267fs)
|
|
|
NM_020779.4(WDR35):c.24+1G>T
|
rs1672702813
|
|
NM_020791.4(TAOK1):c.449G>T (p.Arg150Ile)
|
rs2030989355
|
|
NM_020791.4(TAOK1):c.451G>A (p.Asp151Asn)
|
|
|
NM_020812.4(DOCK6):c.4650+1_4650+3del
|
rs1280482569
|
|
NM_020822.3(KCNT1):c.1421G>T (p.Arg474Leu)
|
|
|
NM_020822.3(KCNT1):c.1429G>A (p.Ala477Thr)
|
rs1564367605
|
|
NM_020822.3(KCNT1):c.800T>C (p.Met267Thr)
|
rs1564354299
|
|
NM_020971.3(SPTBN4):c.7453del (p.Ala2485fs)
|
rs1555721549
|
|
NM_020975.6(RET):c.1664T>G (p.Phe555Cys)
|
|
|
NM_020975.6(RET):c.1760-2_1760-1del
|
|
|
NM_020975.6(RET):c.1817A>G (p.Tyr606Cys)
|
rs377767395
|
|
NM_020975.6(RET):c.1879+1del
|
|
|
NM_020975.6(RET):c.1888T>A (p.Cys630Ser)
|
|
|
NM_020975.6(RET):c.1947G>A (p.Ser649=)
|
rs377767412
|
|
NM_020975.6(RET):c.2617C>T (p.Arg873Trp)
|
|
|
NM_020975.6(RET):c.2752A>G (p.Met918Val)
|
rs377767442
|
|
NM_020988.3(GNAO1):c.1030_1032del (p.Ile344del)
|
rs2037954707
|
|
NM_020988.3(GNAO1):c.116T>C (p.Leu39Pro)
|
rs1555499769
|
|
NM_020988.3(GNAO1):c.520G>A (p.Asp174Asn)
|
rs1567488305
|
|
NM_020988.3(GNAO1):c.550G>C (p.Gly184Arg)
|
rs1555507383
|
|
NM_020988.3(GNAO1):c.601G>T (p.Asp201Tyr)
|
|
|
NM_021005.4(NR2F2):c.940T>C (p.Cys314Arg)
|
rs1555447237
|
|
NM_021008.4(DEAF1):c.658G>A (p.Gly220Ser)
|
rs751569402
|
|
NM_021008.4(DEAF1):c.676C>T (p.Arg226Trp)
|
rs587777623
|
|
NM_021072.4(HCN1):c.459G>T (p.Met153Ile)
|
|
|
NM_021076.4(NEFH):c.3044_3045del (p.Lys1015fs)
|
|
|
NM_021120.4(DLG3):c.158_159insA (p.Tyr54fs)
|
|
|
NM_021614.4(KCNN2):c.1598_1600del (p.Leu533del)
|
rs1554086554
|
|
NM_021625.5(TRPV4):c.557G>A (p.Arg186Gln)
|
rs397514494
|
|
NM_021625.5(TRPV4):c.842A>C (p.Tyr281Ser)
|
rs1555208063
|
|
NM_021870.3(FGG):c.1030G>A (p.Asp344Asn)
|
rs1553965518
|
|
NM_021964.3(ZNF148):c.1581_1582insC (p.Lys528fs)
|
rs1057519268
|
|
NM_021964.3(ZNF148):c.969dup (p.Ser324fs)
|
rs1935959694
|
|
NM_021971.4(GMPPB):c.1000G>A (p.Asp334Asn)
|
rs397509422
|
|
NM_022081.6(HPS4):c.1966_1967dup (p.Ala657fs)
|
rs752827715
|
|
NM_022089.4(ATP13A2):c.3176T>G (p.Leu1059Arg)
|
|
|
NM_022095.4(ZNF335):c.3092G>A (p.Arg1031Gln)
|
rs1350201776
|
|
NM_022166.4(XYLT1):c.2560G>T (p.Glu854Ter)
|
rs769391314
|
|
NM_022436.3(ABCG5):c.1325-1G>T
|
rs768019354
|
|
NM_022455.5(NSD1):c.4756T>C (p.Cys1586Arg)
|
rs1554198434
|
|
NM_022489.4(INF2):c.271C>G (p.Arg91Gly)
|
rs200247054
|
|
NM_022489.4(INF2):c.653G>A (p.Arg218Gln)
|
rs267607183
|
|
NM_022552.5(DNMT3A):c.1643T>C (p.Met548Thr)
|
rs587777509
|
|
NM_022552.5(DNMT3A):c.639G>A (p.Glu213=)
|
|
|
NM_022773.4(LMF1):c.1024C>T (p.Arg342Ter)
|
|
|
NM_022773.4(LMF1):c.966del (p.Phe323fs)
|
|
|
NM_022893.4(BCL11A):c.2194dup (p.Arg732fs)
|
rs1676202186
|
|
NM_022893.4(BCL11A):c.55+1G>A
|
rs1670493597
|
|
NM_022893.4(BCL11A):c.794del (p.Leu265fs)
|
rs1676346981
|
|
NM_023036.6(DNAI2):c.1212-2A>C
|
|
|
NM_024298.5(MBOAT7):c.855-2A>G
|
rs2076192966
|
|
NM_024301.5(FKRP):c.1016G>A (p.Arg339His)
|
rs1450841129
|
|
NM_024301.5(FKRP):c.1378C>T (p.Gln460Ter)
|
|
|
NM_024301.5(FKRP):c.1415del (p.Lys472fs)
|
rs1555739280
|
|
NM_024306.5(FA2H):c.443C>T (p.Pro148Leu)
|
rs372350326
|
|
NM_024417.5(FDXR):c.463C>T (p.Arg155Trp)
|
rs752675360
|
|
NM_024422.6(DSC2):c.1521-1G>A
|
rs886039128
|
|
NM_024422.6(DSC2):c.96del (p.Ala31_Cys32insTer)
|
rs397517408
|
|
NM_024496.4(IRF2BPL):c.1412G>A (p.Trp471Ter)
|
|
|
NM_024496.4(IRF2BPL):c.2152del (p.Cys718fs)
|
rs1555377234
|
|
NM_024529.5(CDC73):c.1030+1G>A
|
|
|
NM_024529.5(CDC73):c.1067-2A>G
|
|
|
NM_024529.5(CDC73):c.131+1G>A
|
rs587776558
|
|
NM_024529.5(CDC73):c.238-1G>T
|
|
|
NM_024577.4(SH3TC2):c.1586_1587delinsAG (p.Arg529Gln)
|
rs863224454
|
|
NM_024665.7(TBL1XR1):c.1108G>A (p.Asp370Asn)
|
rs1057517933
|
|
NM_024665.7(TBL1XR1):c.1341T>G (p.Ser447Arg)
|
rs1553808295
|
|
NM_024665.7(TBL1XR1):c.991A>T (p.Ile331Phe)
|
rs1553810244
|
|
NM_024675.3:c.1246_1247insALU
|
|
|
NM_024675.3:c.2098_2099insALU
|
|
|
NM_024675.3:c.2099_2100insALU
|
|
|
NM_024675.3:c.2455_2456insALU
|
|
|
NM_024675.3:c.2913_2914insALU
|
|
|
NM_024675.3:c.3180_3181insALU
|
|
|
NM_024675.4(PALB2):c.108+1_108+2insC
|
rs1597101776
|
|
NM_024675.4(PALB2):c.108+2_108+12delinsCGGC
|
rs1597101736
|
|
NM_024675.4(PALB2):c.109-12T>A
|
rs774949203
|
|
NM_024675.4(PALB2):c.109-2A>C
|
rs730881897
|
|
NM_024675.4(PALB2):c.109-2A>G
|
rs730881897
|
|
NM_024675.4(PALB2):c.1684+1G>A
|
rs1555461148
|
|
NM_024675.4(PALB2):c.1684+1G>T
|
rs1555461148
|
|
NM_024675.4(PALB2):c.1685-1G>C
|
rs1057520645
|
|
NM_024675.4(PALB2):c.1685-2A>C
|
rs754660432
|
|
NM_024675.4(PALB2):c.1685-2A>G
|
rs754660432
|
|
NM_024675.4(PALB2):c.18G>T (p.Gly6=)
|
rs587782462
|
|
NM_024675.4(PALB2):c.1A>C (p.Met1Leu)
|
|
|
NM_024675.4(PALB2):c.1A>G (p.Met1Val)
|
rs879254144
|
|
NM_024675.4(PALB2):c.211+1G>A
|
rs1555462026
|
|
NM_024675.4(PALB2):c.2514+1G>C
|
rs886039729
|
|
NM_024675.4(PALB2):c.2514+1G>T
|
|
|
NM_024675.4(PALB2):c.2515-1G>A
|
rs587776417
|
|
NM_024675.4(PALB2):c.2515-1G>C
|
rs587776417
|
|
NM_024675.4(PALB2):c.2586+1_2586+2delinsTA
|
|
|
NM_024675.4(PALB2):c.2587-1G>C
|
rs761214886
|
|
NM_024675.4(PALB2):c.2587-2A>C
|
rs1060502787
|
|
NM_024675.4(PALB2):c.2748+1G>A
|
rs753153576
|
|
NM_024675.4(PALB2):c.2748+1G>T
|
rs753153576
|
|
NM_024675.4(PALB2):c.2748+2T>C
|
rs1060499821
|
|
NM_024675.4(PALB2):c.2749-2A>C
|
rs1555459747
|
|
NM_024675.4(PALB2):c.2749-2A>G
|
rs1555459747
|
|
NM_024675.4(PALB2):c.2834+1G>A
|
rs587776419
|
|
NM_024675.4(PALB2):c.2834+1G>C
|
rs587776419
|
|
NM_024675.4(PALB2):c.2834+1G>T
|
rs587776419
|
|
NM_024675.4(PALB2):c.2834+2T>C
|
rs864622481
|
|
NM_024675.4(PALB2):c.2835-1G>A
|
rs515726099
|
|
NM_024675.4(PALB2):c.2835-1G>C
|
rs515726099
|
|
NM_024675.4(PALB2):c.2996+1G>T
|
rs886039626
|
|
NM_024675.4(PALB2):c.2996+5G>T
|
rs879254193
|
|
NM_024675.4(PALB2):c.2997-1G>A
|
rs754465466
|
|
NM_024675.4(PALB2):c.2T>C (p.Met1Thr)
|
rs756519825
|
|
NM_024675.4(PALB2):c.2T>G (p.Met1Arg)
|
|
|
NM_024675.4(PALB2):c.3113+1G>A
|
rs1597079557
|
|
NM_024675.4(PALB2):c.3113+1G>C
|
|
|
NM_024675.4(PALB2):c.3113+5G>A
|
rs876659463
|
|
NM_024675.4(PALB2):c.3114-1G>A
|
rs886039619
|
|
NM_024675.4(PALB2):c.3114-554_3166del
|
|
|
NM_024675.4(PALB2):c.31del (p.Cys11fs)
|
|
|
NM_024675.4(PALB2):c.3201+1G>C
|
rs587776423
|
|
NM_024675.4(PALB2):c.3201+1del
|
|
|
NM_024675.4(PALB2):c.3201+3A>C
|
rs876660215
|
|
NM_024675.4(PALB2):c.3202-1G>A
|
rs515726111
|
|
NM_024675.4(PALB2):c.3202-1G>C
|
rs515726111
|
|
NM_024675.4(PALB2):c.3202-2A>C
|
rs1060499827
|
|
NM_024675.4(PALB2):c.3240del (p.Glu1081fs)
|
|
|
NM_024675.4(PALB2):c.3290_3292delinsAT (p.Pro1097fs)
|
|
|
NM_024675.4(PALB2):c.3324C>A (p.Tyr1108Ter)
|
rs1218512317
|
|
NM_024675.4(PALB2):c.3350+2C>G
|
rs1555458171
|
|
NM_024675.4(PALB2):c.3350G>A (p.Arg1117Lys)
|
rs876659859
|
|
NM_024675.4(PALB2):c.3350_3350+1delinsC
|
|
|
NM_024675.4(PALB2):c.3351-1G>C
|
rs1597062406
|
|
NM_024675.4(PALB2):c.3351-2A>G
|
rs1060502764
|
|
NM_024675.4(PALB2):c.3351-2A>T
|
|
|
NM_024675.4(PALB2):c.3448_3450delinsTT (p.Leu1150fs)
|
|
|
NM_024675.4(PALB2):c.3483del (p.Phe1161fs)
|
rs2142252781
|
|
NM_024675.4(PALB2):c.3494C>A (p.Ser1165Ter)
|
rs773829275
|
|
NM_024675.4(PALB2):c.3507_3508del (p.His1170fs)
|
rs587776428
|
|
NM_024675.4(PALB2):c.3G>A (p.Met1Ile)
|
rs1057517585
|
|
NM_024675.4(PALB2):c.48+1G>A
|
rs515726118
|
|
NM_024675.4(PALB2):c.48+1G>C
|
rs515726118
|
|
NM_024675.4(PALB2):c.48+1del
|
rs1060499829
|
|
NM_024675.4(PALB2):c.48+2T>G
|
rs876659679
|
|
NM_024675.4(PALB2):c.48G>A (p.Lys16=)
|
rs587776405
|
|
NM_024675.4(PALB2):c.49-1G>A
|
rs1440838364
|
|
NM_024675.4(PALB2):c.49-2A>T
|
rs786203245
|
|
NM_024675.4(PALB2):c.9_48+118del
|
|
|
NM_024685.4(BBS10):c.1804G>T (p.Val602Leu)
|
rs778431173
|
|
NM_024757.5(EHMT1):c.1307C>T (p.Pro436Leu)
|
rs869312936
|
|
NM_024757.5(EHMT1):c.2426C>G (p.Pro809Arg)
|
|
|
NM_024757.5(EHMT1):c.3447C>T (p.Gly1149=)
|
|
|
NM_024818.6(UBA5):c.638C>T (p.Ser213Leu)
|
rs376997494
|
|
NM_025077.4(TOE1):c.539T>A (p.Leu180Gln)
|
rs1647053042
|
|
NM_025132.4(WDR19):c.2646-2A>G
|
rs890152763
|
|
NM_025132.4(WDR19):c.2891T>C (p.Leu964Pro)
|
rs1733504639
|
|
NM_025137.4(SPG11):c.5866+5G>C
|
rs1256036525
|
|
NM_025137.4(SPG11):c.7152-2A>G
|
|
|
NM_025152.3(NUBPL):c.257-2A>G
|
rs2033399542
|
|
NM_025216.3(WNT10A):c.725T>G (p.Met242Arg)
|
rs370462053
|
|
NM_030632.3(ASXL3):c.3039+2T>A
|
rs1555743005
|
|
NM_030632.3(ASXL3):c.4330C>T (p.Arg1444Ter)
|
rs1555744282
|
|
NM_030632.3(ASXL3):c.5623A>T (p.Lys1875Ter)
|
rs2067763918
|
|
NM_030962.4(SBF2):c.3602A>G (p.His1201Arg)
|
rs869312970
|
|
NM_030962.4(SBF2):c.3857T>C (p.Val1286Ala)
|
rs869312963
|
|
NM_031206.7(LAS1L):c.1430G>A (p.Ser477Asn)
|
rs797044926
|
|
NM_031263.4(HNRNPK):c.1092+1G>A
|
|
|
NM_031263.4(HNRNPK):c.248G>A (p.Gly83Asp)
|
rs1064794967
|
|
NM_031263.4(HNRNPK):c.676_678del (p.Asp226del)
|
rs1956875321
|
|
NM_031307.4(PUS3):c.981dup (p.Lys328Ter)
|
|
|
NM_031407.7(HUWE1):c.12904G>A (p.Gly4302Ser)
|
rs1556909335
|
|
NM_031418.4(ANO3):c.922A>C (p.Ile308Leu)
|
rs869312951
|
|
NM_031844.3(HNRNPU):c.970A>G (p.Arg324Gly)
|
rs1553283037
|
|
NM_032043.2:c.(627+1_628-1)_(1473+1_1474-1)dup
|
|
|
NM_032043.2:c.577_578insALU
|
|
|
NM_032043.3(BRIP1):c.1140+3del
|
rs2145331108
|
|
NM_032043.3(BRIP1):c.1140+6T>C
|
|
|
NM_032043.3(BRIP1):c.1141-2A>G
|
|
|
NM_032043.3(BRIP1):c.1186C>G (p.His396Asp)
|
rs1603342316
|
|
NM_032043.3(BRIP1):c.118C>T (p.Gln40Ter)
|
|
|
NM_032043.3(BRIP1):c.128T>A (p.Leu43Ter)
|
|
|
NM_032043.3(BRIP1):c.1340+1G>A
|
rs1555607022
|
|
NM_032043.3(BRIP1):c.1340+2_1340+5del
|
rs2077945546
|
|
NM_032043.3(BRIP1):c.1341-3C>G
|
rs864622597
|
|
NM_032043.3(BRIP1):c.1473+1G>A
|
rs748274524
|
|
NM_032043.3(BRIP1):c.1474-1G>A
|
rs1555603638
|
|
NM_032043.3(BRIP1):c.1474-2A>G
|
rs1603337052
|
|
NM_032043.3(BRIP1):c.1628+5G>A
|
rs754929230
|
|
NM_032043.3(BRIP1):c.1629-1G>T
|
rs1060501757
|
|
NM_032043.3(BRIP1):c.1629-2A>G
|
|
|
NM_032043.3(BRIP1):c.1794+2T>A
|
|
|
NM_032043.3(BRIP1):c.1795-1G>A
|
rs1368457771
|
|
NM_032043.3(BRIP1):c.1936-1G>A
|
rs1555601204
|
|
NM_032043.3(BRIP1):c.1936-2A>G
|
rs878855143
|
|
NM_032043.3(BRIP1):c.2097+1G>C
|
rs786202941
|
|
NM_032043.3(BRIP1):c.2098-1G>T
|
|
|
NM_032043.3(BRIP1):c.2098-3_2098-1delinsAA
|
|
|
NM_032043.3(BRIP1):c.2258-1G>A
|
rs1064793887
|
|
NM_032043.3(BRIP1):c.2370_2379+20del
|
rs2144674380
|
|
NM_032043.3(BRIP1):c.2379+1G>T
|
rs1555590286
|
|
NM_032043.3(BRIP1):c.2492+1G>A
|
|
|
NM_032043.3(BRIP1):c.2492+1del
|
rs1603293314
|
|
NM_032043.3(BRIP1):c.2492_2492+5del
|
rs1603293306
|
|
NM_032043.3(BRIP1):c.2493-1G>A
|
rs786203451
|
|
NM_032043.3(BRIP1):c.2493-1G>C
|
rs786203451
|
|
NM_032043.3(BRIP1):c.2575+1G>C
|
|
|
NM_032043.3(BRIP1):c.2575+1G>T
|
rs1567737536
|
|
NM_032043.3(BRIP1):c.2575+2dup
|
rs1555574711
|
|
NM_032043.3(BRIP1):c.2576-2A>G
|
rs869312763
|
|
NM_032043.3(BRIP1):c.2859del (p.Asn955fs)
|
|
|
NM_032043.3(BRIP1):c.2905+1G>A
|
rs876660203
|
|
NM_032043.3(BRIP1):c.2905+1G>C
|
|
|
NM_032043.3(BRIP1):c.2905+1G>T
|
rs876660203
|
|
NM_032043.3(BRIP1):c.2905+2T>C
|
rs1603276502
|
|
NM_032043.3(BRIP1):c.2905+3A>T
|
|
|
NM_032043.3(BRIP1):c.2986C>T (p.Gln996Ter)
|
|
|
NM_032043.3(BRIP1):c.3072del (p.Ser1025fs)
|
rs1342519012
|
|
NM_032043.3(BRIP1):c.3074C>A (p.Ser1025Ter)
|
rs1603275526
|
|
NM_032043.3(BRIP1):c.3173_3179delinsCTC (p.Leu1058fs)
|
rs1555572799
|
|
NM_032043.3(BRIP1):c.3208del (p.Ser1070fs)
|
rs748598593
|
|
NM_032043.3(BRIP1):c.3209C>A (p.Ser1070Ter)
|
rs777213170
|
|
NM_032043.3(BRIP1):c.3216_3235dup (p.Ile1079delinsThrLeuPheHisHisTer)
|
rs1603275367
|
|
NM_032043.3(BRIP1):c.3232A>T (p.Lys1078Ter)
|
rs786202927
|
|
NM_032043.3(BRIP1):c.3240dup (p.Ala1081fs)
|
rs779741278
|
|
NM_032043.3(BRIP1):c.3260dup (p.Asn1087fs)
|
rs771654971
|
|
NM_032043.3(BRIP1):c.3328G>T (p.Glu1110Ter)
|
rs1060501774
|
|
NM_032043.3(BRIP1):c.3358_3359del (p.Asp1120fs)
|
rs1603275179
|
|
NM_032043.3(BRIP1):c.3370_3371del (p.Glu1124fs)
|
rs1426528935
|
|
NM_032043.3(BRIP1):c.3390_3393del (p.Tyr1131fs)
|
rs778664039
|
|
NM_032043.3(BRIP1):c.3411_3420del (p.Leu1136_Tyr1137insTer)
|
rs876660100
|
|
NM_032043.3(BRIP1):c.3440dup (p.Asn1147fs)
|
rs753683450
|
|
NM_032043.3(BRIP1):c.379+1del
|
|
|
NM_032043.3(BRIP1):c.507+1G>T
|
rs2145761239
|
|
NM_032043.3(BRIP1):c.507G>A (p.Gln169=)
|
rs876660937
|
|
NM_032043.3(BRIP1):c.507G>C (p.Gln169His)
|
|
|
NM_032043.3(BRIP1):c.507G>T (p.Gln169His)
|
rs876660937
|
|
NM_032043.3(BRIP1):c.508-1G>C
|
rs864622277
|
|
NM_032043.3(BRIP1):c.508-1G>T
|
rs864622277
|
|
NM_032043.3(BRIP1):c.508-2A>G
|
rs876659707
|
|
NM_032043.3(BRIP1):c.508-2A>T
|
rs876659707
|
|
NM_032043.3(BRIP1):c.627+1G>A
|
rs587780833
|
|
NM_032043.3(BRIP1):c.627+1G>T
|
rs587780833
|
|
NM_032043.3(BRIP1):c.628-3C>G
|
|
|
NM_032043.3(BRIP1):c.628-5_629del
|
rs1555609402
|
|
NM_032043.3(BRIP1):c.727A>G (p.Ile243Val)
|
|
|
NM_032043.3(BRIP1):c.72del (p.Gln25fs)
|
|
|
NM_032043.3(BRIP1):c.918+2T>C
|
rs1603346587
|
|
NM_032043.3(BRIP1):c.93+1G>A
|
rs587782047
|
|
NM_032043.3(BRIP1):c.93+1G>T
|
rs587782047
|
|
NM_032043.3(BRIP1):c.93+2del
|
|
|
NM_032043.3(BRIP1):c.93+2dup
|
rs786202125
|
|
NM_032043.3(BRIP1):c.93+4_93+7del
|
rs1224034842
|
|
NM_032043.3(BRIP1):c.93+5G>A
|
rs730881629
|
|
NM_032043.3(BRIP1):c.93+5G>C
|
rs730881629
|
|
NM_032043.3(BRIP1):c.94-2A>G
|
|
|
NM_032188.3(KAT8):c.269A>G (p.Tyr90Cys)
|
rs2057483219
|
|
NM_032482.3(DOT1L):c.3882dup (p.Gly1295fs)
|
rs2024330843
|
|
NM_032590.5(KDM2B):c.1847G>T (p.Cys616Phe)
|
|
|
NM_032730.5(RTN4IP1):c.1084A>T (p.Ile362Phe)
|
rs1775080757
|
|
NM_032806.6(POMGNT2):c.880C>T (p.Arg294Ter)
|
|
|
NM_032856.5(WDR73):c.21G>A (p.Trp7Ter)
|
|
|
NM_032888.4(COL27A1):c.3062G>A (p.Gly1021Asp)
|
rs1554816354
|
|
NM_032982.4(CASP2):c.560_561del (p.His187fs)
|
rs1801677859
|
|
NM_033022.4(RPS24):c.279+5G>T
|
|
|
NM_033360.4(KRAS):c.15A>T (p.Lys5Asn)
|
rs104894361
|
|
NM_033409.4(SLC52A3):c.1156T>C (p.Cys386Arg)
|
rs1555783543
|
|
NM_033409.4(SLC52A3):c.1203dup (p.Ser402fs)
|
|
|
NM_033453.4(ITPA):c.403del (p.Arg135fs)
|
|
|
NM_052867.4(NALCN):c.4605-1G>C
|
rs1555373511
|
|
NM_052867.4(NALCN):c.4755+1G>T
|
rs1158141270
|
|
NM_052867.4(NALCN):c.965T>C (p.Ile322Thr)
|
rs1057519433
|
|
NM_052867.4(NALCN):c.986G>C (p.Arg329Thr)
|
rs2043574947
|
|
NM_052874.5(STX1B):c.106-2A>G
|
rs1567379470
|
|
NM_052874.5(STX1B):c.431G>T (p.Cys144Phe)
|
rs1555494259
|
|
NM_052874.5(STX1B):c.768T>A (p.Tyr256Ter)
|
rs2056572481
|
|
NM_052876.4(NACC1):c.892C>T (p.Arg298Trp)
|
rs1060505041
|
|
NM_057175.5(NAA15):c.1410+1G>A
|
rs1553996876
|
|
NM_057175.5(NAA15):c.1753G>A (p.Ala585Thr)
|
rs1748144362
|
|
NM_058195.4(CDKN2A):c.193+1del
|
rs1820525500
|
|
NM_058195.4(CDKN2A):c.193+2T>C
|
rs2131147945
|
|
NM_058195.4(CDKN2A):c.193+5G>A
|
rs587782083
|
|
NM_058216.1:c.371_372insALU
|
|
|
NM_058216.3(RAD51C):c.1004_1005delinsAA (p.Cys335Ter)
|
rs1598535096
|
|
NM_058216.3(RAD51C):c.1018C>T (p.Gln340Ter)
|
rs1555605103
|
|
NM_058216.3(RAD51C):c.1026+5_1026+7del
|
rs587781410
|
|
NM_058216.3(RAD51C):c.126dup (p.Pro43fs)
|
|
|
NM_058216.3(RAD51C):c.145+1G>A
|
rs757128712
|
|
NM_058216.3(RAD51C):c.145+2T>G
|
rs1057517641
|
|
NM_058216.3(RAD51C):c.146-1G>T
|
rs1555593458
|
|
NM_058216.3(RAD51C):c.146-2A>G
|
rs1555593457
|
|
NM_058216.3(RAD51C):c.146-4_146-2del
|
rs1555593450
|
|
NM_058216.3(RAD51C):c.404+1G>A
|
rs1555593939
|
|
NM_058216.3(RAD51C):c.404G>A (p.Cys135Tyr)
|
rs767796996
|
|
NM_058216.3(RAD51C):c.405-1G>C
|
rs587782036
|
|
NM_058216.3(RAD51C):c.50del (p.Phe17fs)
|
rs1555591851
|
|
NM_058216.3(RAD51C):c.570_571+16del
|
|
|
NM_058216.3(RAD51C):c.571+1del
|
rs1327086366
|
|
NM_058216.3(RAD51C):c.571G>T (p.Glu191Ter)
|
|
|
NM_058216.3(RAD51C):c.572-1G>C
|
rs1413872299
|
|
NM_058216.3(RAD51C):c.572-3C>G
|
rs1567794089
|
|
NM_058216.3(RAD51C):c.705+1G>A
|
rs876658644
|
|
NM_058216.3(RAD51C):c.705G>T (p.Lys235Asn)
|
rs755849719
|
|
NM_058216.3(RAD51C):c.706-1G>T
|
rs1555599090
|
|
NM_058216.3(RAD51C):c.706-2A>C
|
rs587780259
|
|
NM_058216.3(RAD51C):c.837+1G>C
|
rs760235677
|
|
NM_058216.3(RAD51C):c.837+1G>T
|
rs760235677
|
|
NM_058216.3(RAD51C):c.837+1del
|
rs1555599288
|
|
NM_058216.3(RAD51C):c.837+2T>C
|
rs1567799943
|
|
NM_058216.3(RAD51C):c.837+4_837+7del
|
rs727503760
|
|
NM_058216.3(RAD51C):c.838-2A>G
|
rs748589398
|
|
NM_058216.3(RAD51C):c.904+1G>A
|
rs1555602159
|
|
NM_058216.3(RAD51C):c.904+1G>T
|
rs1555602159
|
|
NM_058216.3(RAD51C):c.904G>A (p.Gly302Arg)
|
rs1555602158
|
|
NM_058216.3(RAD51C):c.905-3_906del
|
rs730881941
|
|
NM_058216.3(RAD51C):c.917dup (p.His307fs)
|
|
|
NM_058216.3(RAD51C):c.965+1G>A
|
rs730881933
|
|
NM_058216.3(RAD51C):c.965+5G>A
|
rs774586107
|
|
NM_058216.3(RAD51C):c.97_98del (p.Gln33fs)
|
rs587780840
|
|
NM_058216.3(RAD51C):c.981C>G (p.Tyr327Ter)
|
|
|
NM_058216.3(RAD51C):c.994C>T (p.Gln332Ter)
|
rs1555605074
|
|
NM_078470.6(COX15):c.750+1G>A
|
|
|
NM_078480.3(PUF60):c.478_479del (p.Met160fs)
|
rs1554643473
|
|
NM_080680.3(COL11A2):c.2268+1G>T
|
rs797044915
|
|
NM_130466.4(UBE3B):c.2990G>C (p.Arg997Pro)
|
rs539407162
|
|
NM_130811.4(SNAP25):c.142G>T (p.Val48Phe)
|
rs797044873
|
|
NM_130839.5(UBE3A):c.1456A>G (p.Lys486Glu)
|
rs1566954813
|
|
NM_130839.5(UBE3A):c.1577G>A (p.Arg526His)
|
rs1064795012
|
|
NM_130839.5(UBE3A):c.1693G>A (p.Gly565Arg)
|
rs587781233
|
|
NM_130839.5(UBE3A):c.2540C>T (p.Pro847Leu)
|
rs587781239
|
|
NM_133378.4(TTN):c.10361-1262dup
|
rs876657673
|
|
NM_133378.4(TTN):c.41592_41611del (p.Val13865fs)
|
rs727504825
|
|
NM_133433.4(NIPBL):c.3810GAA[1] (p.Lys1271del)
|
|
|
NM_133433.4(NIPBL):c.6316G>T (p.Val2106Leu)
|
|
|
NM_133433.4(NIPBL):c.7168G>A (p.Ala2390Thr)
|
rs587784036
|
|
NM_133443.4(GPT2):c.459C>G (p.Ser153Arg)
|
rs786203999
|
|
NM_138370.3(PKDCC):c.651C>A (p.Tyr217Ter)
|
rs761532715
|
|
NM_138615.3(DHX30):c.2354G>A (p.Arg785His)
|
rs1553706799
|
|
NM_138773.4(SLC25A46):c.1078_1087dup (p.Asn363delinsThrSerAsnTer)
|
rs1561610094
|
|
NM_138773.4(SLC25A46):c.998del (p.Pro333fs)
|
|
|
NM_139058.3(ARX):c.1384_1406del (p.Leu462fs)
|
|
|
NM_139276.3(STAT3):c.2144C>T (p.Pro715Leu)
|
rs1064794957
|
|
NM_144628.4(TBC1D20):c.627-1G>C
|
|
|
NM_144773.4(PROKR2):c.58del (p.His20fs)
|
rs587777834
|
|
NM_144997.7(FLCN):c.1176+1G>A
|
|
|
NM_144997.7(FLCN):c.1176+1G>C
|
rs1555607929
|
|
NM_144997.7(FLCN):c.1176+1G>T
|
rs1555607929
|
|
NM_144997.7(FLCN):c.1300+5G>C
|
rs746264578
|
|
NM_144997.7(FLCN):c.1301-1G>A
|
|
|
NM_144997.7(FLCN):c.1301-2A>C
|
|
|
NM_144997.7(FLCN):c.1301-2A>G
|
rs1555607296
|
|
NM_144997.7(FLCN):c.1432+1G>T
|
|
|
NM_144997.7(FLCN):c.1498del (p.Val500fs)
|
rs1597578776
|
|
NM_144997.7(FLCN):c.1615dup (p.Leu539fs)
|
|
|
NM_144997.7(FLCN):c.1616dup (p.Ala541fs)
|
rs2144810362
|
|
NM_144997.7(FLCN):c.1657T>C (p.Trp553Arg)
|
rs1131690833
|
|
NM_144997.7(FLCN):c.1_18delinsTGTTGCAG (p.Met1fs)
|
|
|
NM_144997.7(FLCN):c.397-1G>T
|
rs2144983515
|
|
NM_144997.7(FLCN):c.397-2A>G
|
|
|
NM_144997.7(FLCN):c.761T>C (p.Leu254Pro)
|
|
|
NM_144997.7(FLCN):c.767CCT[1] (p.Ser257del)
|
|
|
NM_144997.7(FLCN):c.780-2A>G
|
rs1555609514
|
|
NM_144997.7(FLCN):c.871+132G>T
|
|
|
NM_144997.7(FLCN):c.91C>T (p.Gln31Ter)
|
rs1597618162
|
|
NM_145167.3(PIGM):c.2T>C (p.Met1Thr)
|
rs776715594
|
|
NM_152268.4(PARS2):c.865C>T (p.Gln289Ter)
|
rs1553183771
|
|
NM_152296.5(ATP1A3):c.1124G>A (p.Arg375His)
|
rs200891944
|
|
NM_152296.5(ATP1A3):c.2267G>A (p.Arg756His)
|
rs606231435
|
|
NM_152296.5(ATP1A3):c.2323C>A (p.Pro775Thr)
|
rs1555859593
|
|
NM_152296.5(ATP1A3):c.2324C>T (p.Pro775Leu)
|
rs886041396
|
|
NM_152296.5(ATP1A3):c.971A>G (p.Glu324Gly)
|
rs797044897
|
|
NM_152416.4(NDUFAF6):c.2T>C (p.Met1Thr)
|
rs552141388
|
|
NM_152564.5(VPS13B):c.11705_11709delinsAGAA (p.Thr3902fs)
|
rs386834067
|
|
NM_152564.5(VPS13B):c.3397C>T (p.Pro1133Ser)
|
rs781781537
|
|
NM_152594.3(SPRED1):c.1075_1076insAGTA (p.Ile359fs)
|
|
|
NM_152594.3(SPRED1):c.305C>G (p.Thr102Arg)
|
rs754706111
|
|
NM_152594.3(SPRED1):c.71G>A (p.Arg24Gln)
|
rs1057518150
|
|
NM_152730.6(TBC1D32):c.2482-2A>G
|
|
|
NM_152743.4(BRAT1):c.1134+1G>C
|
|
|
NM_152743.4(BRAT1):c.2125_2128del (p.Phe709fs)
|
rs763527391
|
|
NM_152756.5(RICTOR):c.4346del (p.Asn1449fs)
|
rs1554059320
|
|
NM_153033.5(KCTD7):c.145-2A>G
|
rs1554397774
|
|
NM_153033.5(KCTD7):c.754C>G (p.Leu252Val)
|
rs200652879
|
|
NM_153700.2(STRC):c.4917_4918delinsCT (p.Leu1640Phe)
|
rs727503441
|
|
NM_153704.6(TMEM67):c.370G>A (p.Glu124Lys)
|
rs375824494
|
|
NM_170675.5(MEIS2):c.992GAA[2] (p.Arg333del)
|
rs879255264
|
|
NM_170707.4(LMNA):c.1004_1005inv (p.Arg335Pro)
|
|
|
NM_170707.4(LMNA):c.1142_1157+1del
|
rs1553265755
|
|
NM_170707.4(LMNA):c.1146C>T (p.Gly382=)
|
rs57508089
|
|
NM_170707.4(LMNA):c.1381-1G>A
|
|
|
NM_170707.4(LMNA):c.1411C>G (p.Arg471Gly)
|
rs28928902
|
|
NM_170707.4(LMNA):c.1489-2A>G
|
rs879254081
|
|
NM_170707.4(LMNA):c.1608+2T>G
|
rs2102896324
|
|
NM_170707.4(LMNA):c.1609-3C>G
|
rs267607581
|
|
NM_170707.4(LMNA):c.1622G>A (p.Arg541His)
|
rs61444459
|
|
NM_170707.4(LMNA):c.1744C>T (p.Arg582Cys)
|
rs918645468
|
|
NM_170707.4(LMNA):c.497G>C (p.Arg166Pro)
|
rs267607570
|
|
NM_170707.4(LMNA):c.513+2T>G
|
rs1553264668
|
|
NM_170707.4(LMNA):c.639+1G>T
|
rs869125101
|
|
NM_170707.4(LMNA):c.644T>C (p.Leu215Pro)
|
rs61295588
|
|
NM_170707.4(LMNA):c.73C>T (p.Arg25Cys)
|
rs58327533
|
|
NM_170707.4(LMNA):c.778AAG[1] (p.Lys261del)
|
rs58978449
|
|
NM_170707.4(LMNA):c.799T>C (p.Tyr267His)
|
rs267607593
|
|
NM_170707.4(LMNA):c.82C>G (p.Arg28Gly)
|
rs59914820
|
|
NM_170707.4(LMNA):c.937-1G>A
|
rs1553265606
|
|
NM_170707.4(LMNA):c.937-2A>G
|
|
|
NM_172107.4(KCNQ2):c.1742G>A (p.Arg581Gln)
|
rs118192235
|
|
NM_172107.4(KCNQ2):c.1962_1963del (p.Glu654fs)
|
|
|
NM_172107.4(KCNQ2):c.2599_2603dup (p.Arg871fs)
|
rs1555850151
|
|
NM_172107.4(KCNQ2):c.430C>G (p.Arg144Gly)
|
rs1555873985
|
|
NM_172107.4(KCNQ2):c.584C>T (p.Ser195Phe)
|
rs1568940442
|
|
NM_172107.4(KCNQ2):c.612G>C (p.Gln204His)
|
rs796052625
|
|
NM_172107.4(KCNQ2):c.638G>A (p.Arg213Gln)
|
|
|
NM_172107.4(KCNQ2):c.704C>T (p.Ala235Val)
|
rs797045638
|
|
NM_172107.4(KCNQ2):c.794C>T (p.Ala265Val)
|
rs587777219
|
|
NM_172107.4(KCNQ2):c.839A>G (p.Tyr280Cys)
|
rs1568927820
|
|
NM_172107.4(KCNQ2):c.994A>G (p.Arg332Gly)
|
rs1555869758
|
|
NM_172362.3(KCNH1):c.1486G>A (p.Gly496Arg)
|
rs730882175
|
|
NM_173495.3(PTCHD1):c.963del (p.Gly322fs)
|
|
|
NM_173659.5(RPUSD3):c.646C>T (p.Arg216Cys)
|
rs767103943
|
|
NM_174916.3(UBR1):c.3848+1G>T
|
rs758623165
|
|
NM_174936.4(PCSK9):c.94G>A (p.Glu32Lys)
|
|
|
NM_175914.5(HNF4A):c.582+1G>A
|
rs1392795567
|
|
NM_175914.5(HNF4A):c.583-1G>C
|
|
|
NM_175914.5(HNF4A):c.932G>A (p.Arg311His)
|
rs1375557127
|
|
NM_176869.3(PPA2):c.528+1G>A
|
|
|
NM_177438.3(DICER1):c.1376+1G>A
|
rs886037670
|
|
NM_177438.3(DICER1):c.1753-9A>G
|
rs1595407392
|
|
NM_177438.3(DICER1):c.2041-2A>G
|
rs1131691204
|
|
NM_177438.3(DICER1):c.2041-5_2041-2del
|
rs1595394092
|
|
NM_177438.3(DICER1):c.2041-7_2041-2delinsAT
|
|
|
NM_177438.3(DICER1):c.2256+5G>T
|
|
|
NM_177438.3(DICER1):c.2257-7A>G
|
rs1891665514
|
|
NM_177438.3(DICER1):c.2436+1G>T
|
rs1595381795
|
|
NM_177438.3(DICER1):c.2436+1dup
|
|
|
NM_177438.3(DICER1):c.2650+1G>A
|
rs886037691
|
|
NM_177438.3(DICER1):c.2988-2A>G
|
rs1595372950
|
|
NM_177438.3(DICER1):c.4050+1G>A
|
rs875989783
|
|
NM_177438.3(DICER1):c.4051-1G>A
|
rs1595354013
|
|
NM_177438.3(DICER1):c.5123G>A (p.Gly1708Glu)
|
rs886037724
|
|
NM_177438.3(DICER1):c.5364+1G>A
|
rs1131691227
|
|
NM_177438.3(DICER1):c.5441C>T (p.Ser1814Leu)
|
rs1060503625
|
|
NM_177438.3(DICER1):c.5465A>G (p.Asp1822Gly)
|
rs886037729
|
|
NM_177550.5(SLC13A5):c.548-1G>A
|
|
|
NM_177559.3(CSNK2A1):c.140G>A (p.Arg47Gln)
|
rs869312845
|
|
NM_177559.3(CSNK2A1):c.529G>A (p.Gly177Ser)
|
rs1555762734
|
|
NM_177559.3(CSNK2A1):c.934C>T (p.Arg312Trp)
|
rs2018124491
|
|
NM_178012.5(TUBB2B):c.526T>C (p.Ser176Pro)
|
rs1757277674
|
|
NM_178012.5(TUBB2B):c.533C>T (p.Thr178Met)
|
rs1057520391
|
|
NM_178014.4(TUBB):c.979G>A (p.Asp327Asn)
|
rs1776459285
|
|
NM_178526.5(SLC25A42):c.623_624del (p.Thr207_Tyr208insTer)
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|
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NM_181303.2(NLGN3):c.577+1G>A
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|
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NM_181426.2(CCDC39):c.1874+2T>C
|
|
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NM_181486.4(TBX5):c.1202G>A (p.Trp401Ter)
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|
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NM_181523.3(PIK3R1):c.1612ATT[1] (p.Ile539del)
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rs397514046
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NM_181552.4(CUX1):c.268+1G>A
|
rs1825996355
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NM_181882.3(PRX):c.184+2T>C
|
rs2079511684
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NM_181882.3(PRX):c.2853dup (p.Gly952fs)
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rs1568704829
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NM_182925.5(FLT4):c.3391G>A (p.Gly1131Ser)
|
rs1554109707
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NM_182931.3(KMT2E):c.1249-1G>C
|
rs1797769314
|
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NM_182931.3(KMT2E):c.2847+5G>A
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|
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NM_182977.3(NNT):c.2798A>G (p.Tyr933Cys)
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rs1741493255
|
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NM_183050.4(BCKDHB):c.509G>C (p.Arg170Pro)
|
rs371518124
|
|
NM_183357.3(ADCY5):c.3037C>T (p.Arg1013Cys)
|
rs1365372289
|
|
NM_198173.3(GRHL3):c.1795C>G (p.Leu599Val)
|
rs797044857
|
|
NM_198253.3(TERT):c.1438T>C (p.Ser480Pro)
|
rs917650159
|
|
NM_198253.3(TERT):c.1456C>T (p.Arg486Cys)
|
rs199422293
|
|
NM_198253.3(TERT):c.1891C>T (p.Arg631Trp)
|
rs1194223999
|
|
NM_198253.3(TERT):c.2147C>T (p.Ala716Val)
|
rs199422298
|
|
NM_198253.3(TERT):c.2286+1G>A
|
rs1749780301
|
|
NM_198253.3(TERT):c.2593C>T (p.Arg865Cys)
|
rs372868296
|
|
NM_198253.3(TERT):c.2648T>G (p.Phe883Cys)
|
|
|
NM_198253.3(TERT):c.2768C>T (p.Pro923Leu)
|
rs387907251
|
|
NM_198253.3(TERT):c.421C>G (p.Leu141Val)
|
rs775225240
|
|
NM_198904.4(GABRG2):c.1027T>C (p.Phe343Leu)
|
rs1554100923
|
|
NM_198904.4(GABRG2):c.244C>T (p.Arg82Trp)
|
rs146470870
|
|
NM_198904.4(GABRG2):c.259+1G>A
|
|
|
NM_198904.4(GABRG2):c.808A>G (p.Arg270Gly)
|
rs796052520
|
|
NM_198904.4(GABRG2):c.917C>A (p.Ser306Tyr)
|
|
|
NM_198965.2(PTHLH):c.524+2T>C
|
rs1555124505
|
|
NM_199334.5(THRA):c.788C>T (p.Ala263Val)
|
rs1555545033
|
|
NM_201525.4(ADGRG1):c.1352A>G (p.Asp451Gly)
|
rs142684762
|
|
NM_205768.3(ZBTB18):c.1118del (p.Ser373fs)
|
rs875989785
|
|
NM_205861.3(DHDDS):c.104G>A (p.Gly35Glu)
|
rs2075181154
|
|
NM_206933.4(USH2A):c.10403C>T (p.Pro3468Leu)
|
rs1553261476
|
|
NM_206933.4(USH2A):c.9055+1del
|
rs1553268563
|
|
NM_206937.2(LIG4):c.2336del (p.Phe778_Ser779insTer)
|
|
|
NM_206937.2(LIG4):c.907G>C (p.Gly303Arg)
|
rs1131691430
|
|
NM_213607.3(CCDC103):c.289dup (p.Leu97fs)
|
|
|
PALB2:c.2515-1G>T
|
rs587776417
|
|
Single allele
|
|
|