NM_000243.3(MEFV):c.442G>C (p.Glu148Gln)
|
rs3743930
|
0.02112
|
NM_022168.4(IFIH1):c.1641+1G>C
|
rs35337543
|
0.00728
|
NM_002693.3(POLG):c.1550G>T (p.Gly517Val)
|
rs61752783
|
0.00516
|
NM_000243.3(MEFV):c.2084A>G (p.Lys695Arg)
|
rs104895094
|
0.00506
|
NM_002693.3(POLG):c.803G>C (p.Gly268Ala)
|
rs61752784
|
0.00364
|
NM_000302.4(PLOD1):c.1534C>T (p.Arg512Cys)
|
rs138490756
|
0.00328
|
NR_003051.4(RMRP):n.129G>C
|
rs74810894
|
0.00319
|
NM_006846.4(SPINK5):c.1964G>A (p.Gly655Asp)
|
rs142227576
|
0.00313
|
NM_006846.4(SPINK5):c.2243A>G (p.Glu748Gly)
|
rs181639116
|
0.00297
|
NM_001367624.2(ZNF469):c.1615A>T (p.Ser539Cys)
|
rs189476639
|
0.00283
|
NM_000760.4(CSF3R):c.2041-30C>T
|
rs3918021
|
0.00270
|
NM_000243.3(MEFV):c.97G>T (p.Val33Leu)
|
rs11466016
|
0.00250
|
NM_020964.3(EPG5):c.2998A>G (p.Met1000Val)
|
rs144334723
|
0.00245
|
NM_031471.6(FERMT3):c.736G>A (p.Ala246Thr)
|
rs150869428
|
0.00235
|
NM_022089.4(ATP13A2):c.*130C>T
|
rs189334432
|
0.00217
|
NM_018063.5(HELLS):c.2182A>G (p.Ile728Val)
|
rs116043383
|
0.00211
|
NM_022168.4(IFIH1):c.2362G>A (p.Ala788Thr)
|
rs148369169
|
0.00207
|
NM_012448.4(STAT5B):c.551-5T>C
|
rs200299299
|
0.00188
|
NM_006892.4(DNMT3B):c.608C>T (p.Pro203Leu)
|
rs147945634
|
0.00185
|
NM_007254.4(PNKP):c.416G>A (p.Arg139His)
|
rs34472250
|
0.00185
|
NM_001283009.2(RTEL1):c.2444G>T (p.Ser815Ile)
|
rs150461578
|
0.00176
|
NM_020964.3(EPG5):c.7495A>G (p.Met2499Val)
|
rs191244915
|
0.00173
|
NM_002693.3(POLG):c.1837C>T (p.His613Tyr)
|
rs147407423
|
0.00166
|
NM_001199107.2(TBC1D24):c.1327G>A (p.Glu443Lys)
|
rs141399869
|
0.00163
|
NM_001378454.1(ALMS1):c.6082T>C (p.Ser2028Pro)
|
rs149096794
|
0.00163
|
NM_004415.4(DSP):c.2773C>T (p.Arg925Trp)
|
rs145933612
|
0.00143
|
NM_001111.5(ADAR):c.2668+6T>C
|
rs190881240
|
0.00135
|
NM_000243.3(MEFV):c.986G>A (p.Arg329His)
|
rs104895112
|
0.00133
|
NM_000391.4(TPP1):c.14C>A (p.Ala5Asp)
|
rs138976576
|
0.00133
|
NM_006846.4(SPINK5):c.1451G>A (p.Arg484Lys)
|
rs190657753
|
0.00132
|
NM_031471.6(FERMT3):c.331C>T (p.Arg111Cys)
|
rs140328152
|
0.00129
|
NM_020458.4(TTC7A):c.189C>G (p.Asp63Glu)
|
rs112301354
|
0.00123
|
NM_000211.5(ITGB2):c.311C>T (p.Thr104Met)
|
rs138682103
|
0.00121
|
NM_170707.4(LMNA):c.1930C>T (p.Arg644Cys)
|
rs142000963
|
0.00117
|
NM_022168.4(IFIH1):c.2863C>G (p.Gln955Glu)
|
rs144455277
|
0.00113
|
NM_020458.4(TTC7A):c.2484G>C (p.Gln828His)
|
rs151032299
|
0.00088
|
NM_020964.3(EPG5):c.214G>A (p.Ala72Thr)
|
rs201067154
|
0.00088
|
NM_022168.4(IFIH1):c.478A>G (p.Asn160Asp)
|
rs74162075
|
0.00079
|
NM_022168.4(IFIH1):c.1066C>A (p.Pro356Thr)
|
rs150317197
|
0.00078
|
NM_020458.4(TTC7A):c.1633G>A (p.Val545Ile)
|
rs6755258
|
0.00076
|
NM_022168.4(IFIH1):c.2524G>A (p.Glu842Lys)
|
rs79324540
|
0.00076
|
NM_001367624.2(ZNF469):c.8503G>C (p.Glu2835Gln)
|
rs200153921
|
0.00073
|
NM_000243.3(MEFV):c.277+6C>T
|
rs7199464
|
0.00071
|
NM_001378454.1(ALMS1):c.10892G>A (p.Arg3631His)
|
rs142558799
|
0.00066
|
NM_001283009.2(RTEL1):c.2600C>T (p.Pro867Leu)
|
rs139083375
|
0.00065
|
NM_002693.3(POLG):c.1402A>G (p.Asn468Asp)
|
rs145843073
|
0.00063
|
NM_007259.5(VPS45):c.566A>G (p.Glu189Gly)
|
rs144659538
|
0.00061
|
NM_000302.4(PLOD1):c.1927G>A (p.Val643Ile)
|
rs149425237
|
0.00057
|
NM_020964.3(EPG5):c.7165T>G (p.Leu2389Val)
|
rs199602966
|
0.00053
|
NM_000391.4(TPP1):c.1241A>T (p.Asn414Ile)
|
rs146798796
|
0.00051
|
NM_001367624.2(ZNF469):c.8344C>T (p.His2782Tyr)
|
rs553227769
|
0.00051
|
NM_022089.4(ATP13A2):c.3405+9C>T
|
rs374766933
|
0.00051
|
NM_022089.4(ATP13A2):c.2972G>A (p.Arg991Gln)
|
rs145548316
|
0.00050
|
NM_024301.5(FKRP):c.456C>G (p.Ser152Arg)
|
rs199714523
|
0.00048
|
NM_000243.3(MEFV):c.1151T>C (p.Leu384Pro)
|
rs139313647
|
0.00047
|
NM_002241.5(KCNJ10):c.530A>G (p.Glu177Gly)
|
rs145947380
|
0.00043
|
NM_004415.4(DSP):c.2683T>C (p.Tyr895His)
|
rs375891215
|
0.00043
|
NM_016938.5(EFEMP2):c.259G>A (p.Val87Ile)
|
rs149525720
|
0.00037
|
NM_001013838.3(CARMIL2):c.1308C>G (p.Asp436Glu)
|
rs202220889
|
0.00036
|
NM_000243.3(MEFV):c.1260+10C>T
|
rs104895137
|
0.00035
|
NM_022089.4(ATP13A2):c.1039+6C>T
|
rs565724504
|
0.00035
|
NM_002241.5(KCNJ10):c.1043G>A (p.Arg348His)
|
rs146396982
|
0.00034
|
NM_004100.5(EYA4):c.749C>A (p.Thr250Asn)
|
rs143757415
|
0.00034
|
NM_004415.4(DSP):c.2288A>G (p.Tyr763Cys)
|
rs113967308
|
0.00034
|
NM_024301.5(FKRP):c.898G>A (p.Val300Met)
|
rs563033008
|
0.00031
|
NM_006279.5(ST3GAL3):c.1079G>A (p.Arg360Gln)
|
rs553120567
|
0.00027
|
NM_006279.5(ST3GAL3):c.362G>A (p.Arg121Gln)
|
rs201287443
|
0.00027
|
NM_002693.3(POLG):c.328C>T (p.His110Tyr)
|
rs139599587
|
0.00026
|
NM_000391.4(TPP1):c.7C>A (p.Leu3Ile)
|
rs142163063
|
0.00025
|
NM_004260.4(RECQL4):c.2953G>A (p.Val985Met)
|
rs200629599
|
0.00024
|
NM_006796.3(AFG3L2):c.2167G>A (p.Val723Met)
|
rs139469785
|
0.00024
|
NM_000243.3(MEFV):c.1370C>T (p.Ala457Val)
|
rs104895151
|
0.00020
|
NM_002241.5(KCNJ10):c.148C>T (p.Leu50Phe)
|
rs773510302
|
0.00019
|
NM_000057.4(BLM):c.807C>T (p.Ser269=)
|
rs147850738
|
0.00018
|
NM_000302.4(PLOD1):c.376T>G (p.Phe126Val)
|
rs144702307
|
0.00017
|
NM_002693.3(POLG):c.2021G>A (p.Gly674Asp)
|
rs200257554
|
0.00017
|
NM_000211.5(ITGB2):c.1324C>T (p.Leu442Phe)
|
rs750853525
|
0.00016
|
NM_002230.4(JUP):c.1172G>A (p.Ser391Asn)
|
rs199826380
|
0.00016
|
NM_000302.4(PLOD1):c.1321C>T (p.Arg441Trp)
|
rs11553676
|
0.00014
|
NM_001013838.3(CARMIL2):c.1937G>A (p.Arg646Gln)
|
rs781084120
|
0.00014
|
NM_004415.4(DSP):c.1534A>G (p.Ile512Val)
|
rs202025438
|
0.00014
|
NM_000760.4(CSF3R):c.2072C>T (p.Pro691Leu)
|
rs183614500
|
0.00013
|
NM_004415.4(DSP):c.2134G>A (p.Val712Met)
|
rs397516922
|
0.00012
|
NM_000057.4(BLM):c.3991A>G (p.Arg1331Gly)
|
rs150631940
|
0.00010
|
NM_001287.6(CLCN7):c.2073+4C>T
|
rs768190489
|
0.00010
|
NM_004260.4(RECQL4):c.1132-8C>A
|
rs370660188
|
0.00010
|
NM_031471.6(FERMT3):c.558G>A (p.Ser186=)
|
rs747094642
|
0.00010
|
NM_000231.3(SGCG):c.17A>G (p.Tyr6Cys)
|
rs148041867
|
0.00009
|
NM_001814.6(CTSC):c.1201G>A (p.Glu401Lys)
|
rs200627023
|
0.00009
|
NM_001143992.2(WRAP53):c.956-6del
|
rs773916846
|
0.00008
|
NM_004415.4(DSP):c.107G>C (p.Gly36Ala)
|
rs778506459
|
0.00008
|
NM_001143992.2(WRAP53):c.395C>A (p.Thr132Asn)
|
rs201340741
|
0.00006
|
NM_003896.4(ST3GAL5):c.247C>T (p.Leu83Phe)
|
rs146955794
|
0.00006
|
NM_016938.5(EFEMP2):c.506G>A (p.Arg169His)
|
rs141310608
|
0.00006
|
NM_022168.4(IFIH1):c.1243C>A (p.Gln415Lys)
|
rs575678322
|
0.00006
|
NM_000391.4(TPP1):c.1425G>A (p.Ser475=)
|
rs779333902
|
0.00005
|
NM_001283009.2(RTEL1):c.2308G>A (p.Gly770Arg)
|
rs537754916
|
0.00005
|
NM_001283009.2(RTEL1):c.640A>T (p.Asn214Tyr)
|
rs746411863
|
0.00005
|
NM_022168.4(IFIH1):c.1787_1797del (p.Lys596fs)
|
rs766039450
|
0.00005
|
NM_001378454.1(ALMS1):c.11863T>G (p.Ser3955Ala)
|
rs45528134
|
0.00004
|
NM_002230.4(JUP):c.1219G>A (p.Val407Ile)
|
rs370913228
|
0.00004
|
NM_002693.3(POLG):c.331G>C (p.Gly111Arg)
|
rs760170099
|
0.00004
|
NM_004100.5(EYA4):c.263C>G (p.Pro88Arg)
|
rs727503050
|
0.00004
|
NM_006118.4(HAX1):c.221G>A (p.Arg74His)
|
rs151225652
|
0.00004
|
NM_022089.4(ATP13A2):c.1542+3G>A
|
rs747456787
|
0.00004
|
NM_022089.4(ATP13A2):c.2640C>T (p.Ala880=)
|
rs567287489
|
0.00004
|
NM_022089.4(ATP13A2):c.2746G>A (p.Val916Met)
|
rs768674400
|
0.00004
|
NM_000760.4(CSF3R):c.103A>G (p.Ile35Val)
|
rs755370892
|
0.00003
|
NM_002230.4(JUP):c.1729C>T (p.Arg577Cys)
|
rs782354654
|
0.00003
|
NM_004415.4(DSP):c.4492A>G (p.Lys1498Glu)
|
rs794728122
|
0.00003
|
NM_012448.4(STAT5B):c.2353G>A (p.Ala785Thr)
|
rs760771231
|
0.00003
|
NM_012448.4(STAT5B):c.550+7C>T
|
rs771507023
|
0.00003
|
NM_001111.5(ADAR):c.2360C>T (p.Ala787Val)
|
rs367868255
|
0.00002
|
NM_001378454.1(ALMS1):c.902T>C (p.Ile301Thr)
|
rs374259576
|
0.00002
|
NM_004415.4(DSP):c.6397G>A (p.Gly2133Ser)
|
rs372393122
|
0.00002
|
NM_006892.4(DNMT3B):c.1139G>A (p.Arg380Gln)
|
rs148132847
|
0.00002
|
NM_016038.4(SBDS):c.173T>C (p.Val58Ala)
|
rs747222022
|
0.00002
|
NM_016373.4(WWOX):c.517-108243C>T
|
rs551189075
|
0.00002
|
NM_020964.3(EPG5):c.4367A>G (p.Tyr1456Cys)
|
rs761064074
|
0.00002
|
NM_022168.4(IFIH1):c.1701G>A (p.Met567Ile)
|
rs765060493
|
0.00002
|
NM_022168.4(IFIH1):c.2920C>T (p.His974Tyr)
|
rs748198655
|
0.00002
|
NM_031471.6(FERMT3):c.731G>A (p.Gly244Glu)
|
rs776202905
|
0.00002
|
NM_138387.4(G6PC3):c.201C>T (p.Leu67=)
|
rs375273894
|
0.00002
|
NM_000057.4(BLM):c.3267A>G (p.Gln1089=)
|
rs1396484162
|
0.00001
|
NM_000243.3(MEFV):c.1131C>T (p.Arg377=)
|
rs149941578
|
0.00001
|
NM_000243.3(MEFV):c.1894G>A (p.Gly632Ser)
|
rs104895128
|
0.00001
|
NM_000243.3(MEFV):c.688G>A (p.Glu230Lys)
|
rs104895080
|
0.00001
|
NM_000337.6(SGCD):c.761C>A (p.Thr254Lys)
|
rs372607729
|
0.00001
|
NM_001199107.2(TBC1D24):c.734T>C (p.Leu245Pro)
|
rs370477379
|
0.00001
|
NM_001367624.2(ZNF469):c.1799C>T (p.Thr600Met)
|
rs749374208
|
0.00001
|
NM_001367624.2(ZNF469):c.5114C>T (p.Thr1705Ile)
|
rs768667107
|
0.00001
|
NM_002485.5(NBN):c.390A>G (p.Gln130=)
|
rs146150499
|
0.00001
|
NM_002693.3(POLG):c.3323A>T (p.Tyr1108Phe)
|
rs765949668
|
0.00001
|
NM_002693.3(POLG):c.862C>T (p.Arg288Cys)
|
rs564582352
|
0.00001
|
NM_004260.4(RECQL4):c.2032G>A (p.Val678Met)
|
rs780282337
|
0.00001
|
NM_004415.4(DSP):c.2689G>C (p.Ala897Pro)
|
rs1008407158
|
0.00001
|
NM_006118.4(HAX1):c.46C>T (p.Pro16Ser)
|
rs763746492
|
0.00001
|
NM_006846.4(SPINK5):c.1282A>G (p.Lys428Glu)
|
rs1428055248
|
0.00001
|
NM_006892.4(DNMT3B):c.1490+8C>G
|
rs746731138
|
0.00001
|
NM_007259.5(VPS45):c.1535A>G (p.Tyr512Cys)
|
rs782797599
|
0.00001
|
NM_014425.5(INVS):c.2380C>T (p.Arg794Cys)
|
rs556807161
|
0.00001
|
NM_016038.4(SBDS):c.523C>T (p.Arg175Trp)
|
rs774976459
|
0.00001
|
NM_016938.5(EFEMP2):c.928G>A (p.Val310Met)
|
rs544423133
|
0.00001
|
NM_020458.4(TTC7A):c.142A>G (p.Arg48Gly)
|
rs557981380
|
0.00001
|
NM_020458.4(TTC7A):c.895T>A (p.Cys299Ser)
|
rs1198449310
|
0.00001
|
NM_020964.3(EPG5):c.25C>A (p.Arg9Ser)
|
rs368321414
|
0.00001
|
NM_020964.3(EPG5):c.3496C>G (p.Leu1166Val)
|
rs772777352
|
0.00001
|
NM_020964.3(EPG5):c.713G>T (p.Arg238Leu)
|
rs370270531
|
0.00001
|
NM_022168.4(IFIH1):c.2733T>C (p.Ser911=)
|
rs767453829
|
0.00001
|
NM_152617.4(RNF168):c.237A>G (p.Ile79Met)
|
rs148808853
|
0.00001
|
NM_206933.4(USH2A):c.4733G>A (p.Arg1578His)
|
rs552928943
|
0.00001
|
NM_000057.4(BLM):c.1490A>C (p.Gln497Pro)
|
rs368547042
|
|
NM_000162.5(GCK):c.232G>T (p.Asp78Tyr)
|
|
|
NM_000243.3(MEFV):c.1318C>G (p.Gln440Glu)
|
rs11466026
|
|
NM_000243.3(MEFV):c.2024G>A (p.Ser675Asn)
|
rs104895087
|
|
NM_000243.3(MEFV):c.357G>C (p.Lys119Asn)
|
rs1000657059
|
|
NM_000243.3(MEFV):c.941_942delinsAT (p.Arg314His)
|
rs1085307824
|
|
NM_000302.4(PLOD1):c.2161G>T (p.Ala721Ser)
|
rs781689639
|
|
NM_000302.4(PLOD1):c.218G>T (p.Gly73Val)
|
rs1034357016
|
|
NM_000302.4(PLOD1):c.534C>A (p.Ser178Arg)
|
rs113384442
|
|
NM_000302.4(PLOD1):c.652G>A (p.Val218Met)
|
rs372534520
|
|
NM_000391.4(TPP1):c.1243G>A (p.Val415Met)
|
rs2134591998
|
|
NM_000760.4(CSF3R):c.1072-10T>C
|
rs1557592278
|
|
NM_001013838.3(CARMIL2):c.1546G>A (p.Val516Met)
|
|
|
NM_001079802.2(FKTN):c.506A>G (p.His169Arg)
|
|
|
NM_001136219.3(FCGR2A):c.497C>T (p.Ser166Phe)
|
rs1675655979
|
|
NM_001136219.3(FCGR2A):c.780+1G>A
|
rs409763
|
|
NM_001142279.2(RNASEH2B):c.767G>A (p.Gly256Asp)
|
rs1428846232
|
|
NM_001143992.2(WRAP53):c.1557_1559del (p.Cys519_Gly520delinsTrp)
|
rs2074302817
|
|
NM_001143992.2(WRAP53):c.1564dup (p.Ala522fs)
|
rs755116516
|
|
NM_001143992.2(WRAP53):c.550A>C (p.Ile184Leu)
|
rs776832907
|
|
NM_001283009.2(RTEL1):c.263C>T (p.Ser88Phe)
|
rs758172246
|
|
NM_001283009.2(RTEL1):c.3343+8G>A
|
rs768036242
|
|
NM_001283009.2(RTEL1):c.732G>A (p.Gly244=)
|
rs919917378
|
|
NM_001367624.2(ZNF469):c.10744G>C (p.Ala3582Pro)
|
|
|
NM_001367624.2(ZNF469):c.11016G>T (p.Lys3672Asn)
|
rs967698954
|
|
NM_001367624.2(ZNF469):c.3611A>G (p.Gln1204Arg)
|
rs1597208940
|
|
NM_001378454.1(ALMS1):c.10421G>A (p.Arg3474His)
|
|
|
NM_001378454.1(ALMS1):c.5453G>T (p.Arg1818Leu)
|
rs200925575
|
|
NM_001378454.1(ALMS1):c.8242G>C (p.Gly2748Arg)
|
|
|
NM_002485.5(NBN):c.260T>C (p.Phe87Ser)
|
rs786203573
|
|
NM_002693.3(POLG):c.2466C>G (p.Pro822=)
|
rs1235161601
|
|
NM_002693.3(POLG):c.3482+6C>T
|
rs55779802
|
|
NM_003673.4(TCAP):c.469T>A (p.Ser157Thr)
|
|
|
NM_004260.4(RECQL4):c.2573C>T (p.Thr858Ile)
|
|
|
NM_004415.4(DSP):c.2932A>G (p.Ile978Val)
|
rs780823789
|
|
NM_005219.5(DIAPH1):c.1821TCC[4] (p.Pro614_Pro620del)
|
rs3075570
|
|
NM_005419.4(STAT2):c.34A>G (p.Ser12Gly)
|
rs1565660719
|
|
NM_006846.4(SPINK5):c.2494ACAGGAGAAAGGAGCAAT[1] (p.832TGERSN[1])
|
rs554634510
|
|
NM_006846.4(SPINK5):c.3158G>A (p.Gly1053Glu)
|
|
|
NM_006846.4(SPINK5):c.795-11A>G
|
rs1561685366
|
|
NM_006892.4(DNMT3B):c.1543G>A (p.Glu515Lys)
|
|
|
NM_007254.4(PNKP):c.1360C>A (p.Leu454Met)
|
rs200611702
|
|
NM_012448.4(STAT5B):c.863A>T (p.Gln288Leu)
|
|
|
NM_014797.3(ZBTB24):c.1583G>A (p.Ser528Asn)
|
rs768489629
|
|
NM_014797.3(ZBTB24):c.1786A>G (p.Thr596Ala)
|
|
|
NM_014797.3(ZBTB24):c.745A>C (p.Ser249Arg)
|
rs1776405737
|
|
NM_016938.5(EFEMP2):c.1311T>G (p.Phe437Leu)
|
rs1591064625
|
|
NM_018389.5(SLC35C1):c.402C>T (p.Cys134=)
|
rs955606062
|
|
NM_020661.4(AICDA):c.281T>C (p.Val94Ala)
|
rs2136431874
|
|
NM_020964.3(EPG5):c.1258A>G (p.Lys420Glu)
|
rs2143723704
|
|
NM_020964.3(EPG5):c.2981C>T (p.Ser994Phe)
|
rs2050179430
|
|
NM_020964.3(EPG5):c.6166C>T (p.Arg2056Trp)
|
rs116076204
|
|
NM_022168.4(IFIH1):c.1992G>T (p.Lys664Asn)
|
rs2105197453
|
|
NM_022168.4(IFIH1):c.457G>T (p.Ala153Ser)
|
rs781431529
|
|
NM_024301.5(FKRP):c.10A>G (p.Thr4Ala)
|
|
|
NM_024301.5(FKRP):c.934C>G (p.Arg312Gly)
|
|
|
NM_031471.6(FERMT3):c.514+4A>G
|
rs1591027554
|
|
NM_138387.4(G6PC3):c.677+7C>T
|
rs1045392209
|
|
NM_138387.4(G6PC3):c.920G>A (p.Ser307Asn)
|
|
|
NM_148919.4(PSMB8):c.815G>A (p.Arg272Gln)
|
rs368551668
|
|
NM_152617.4(RNF168):c.1591_1594dup (p.Asn532delinsSerTer)
|
rs751867784
|
|
NM_170707.4(LMNA):c.1198G>A (p.Gly400Ser)
|
|
|
NM_182961.4(SYNE1):c.-224+1G>A
|
|
|
NR_003051.4(RMRP):n.92A>G
|
rs752723025
|
|