NM_000410.4(HFE):c.187C>G (p.His63Asp)
|
rs1799945
|
0.10170
|
NM_000402.4(G6PD):c.466A>G (p.Asn156Asp)
|
rs1050829
|
0.08672
|
NM_000402.4(G6PD):c.292G>A (p.Val98Met)
|
rs1050828
|
0.03616
|
NM_005105.5(RBM8A):c.-21G>A
|
rs139428292
|
0.01871
|
NM_000500.9(CYP21A2):c.*13G>A
|
rs6447
|
0.01770
|
NM_001379610.1(SPINK1):c.101A>G (p.Asn34Ser)
|
rs17107315
|
0.00797
|
NM_000492.4(CFTR):c.2002C>T (p.Arg668Cys)
|
rs1800100
|
0.00625
|
NM_000492.4(CFTR):c.3705T>G (p.Ser1235Arg)
|
rs34911792
|
0.00573
|
NM_000243.3(MEFV):c.2084A>G (p.Lys695Arg)
|
rs104895094
|
0.00506
|
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr)
|
rs17879961
|
0.00434
|
NM_000275.3(OCA2):c.1327G>A (p.Val443Ile)
|
rs121918166
|
0.00350
|
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp)
|
rs36053993
|
0.00341
|
NM_020987.5(ANK3):c.5582C>T (p.Thr1861Met)
|
rs117475706
|
0.00292
|
NM_012275.3(IL36RN):c.338C>T (p.Ser113Leu)
|
rs144478519
|
0.00264
|
NM_144991.3(TSPEAR):c.1915G>A (p.Asp639Asn)
|
rs138480801
|
0.00244
|
NM_001321739.2(M1AP):c.676dup (p.Trp226fs)
|
rs144217347
|
0.00238
|
NM_021870.3(FGG):c.323C>G (p.Ala108Gly)
|
rs148685782
|
0.00222
|
NM_000488.4(SERPINC1):c.89T>A (p.Val30Glu)
|
rs2227624
|
0.00171
|
NM_000243.3(MEFV):c.2177T>C (p.Val726Ala)
|
rs28940579
|
0.00147
|
NM_014915.3(ANKRD26):c.3007G>A (p.Glu1003Lys)
|
rs41304587
|
0.00141
|
NM_000130.5(F5):c.2222A>G (p.Asn741Ser)
|
rs144979314
|
0.00140
|
NM_000098.3(CPT2):c.338C>T (p.Ser113Leu)
|
rs74315294
|
0.00134
|
NM_000500.9(CYP21A2):c.518T>A (p.Ile173Asn)
|
rs6475
|
0.00117
|
NM_007254.4(PNKP):c.1029+2T>C
|
rs199919568
|
0.00115
|
NM_000540.3(RYR1):c.11798A>G (p.Tyr3933Cys)
|
rs147136339
|
0.00108
|
NM_000540.3(RYR1):c.4711A>G (p.Ile1571Val)
|
rs146429605
|
0.00107
|
NM_003119.4(SPG7):c.1045G>A (p.Gly349Ser)
|
rs141659620
|
0.00103
|
NM_000053.4(ATP7B):c.2605G>A (p.Gly869Arg)
|
rs191312027
|
0.00101
|
NM_000488.4(SERPINC1):c.218C>T (p.Pro73Leu)
|
rs121909551
|
0.00092
|
NM_000238.4(KCNH2):c.526C>T (p.Arg176Trp)
|
rs36210422
|
0.00061
|
NM_001848.3(COL6A1):c.2876T>C (p.Val959Ala)
|
rs144814689
|
0.00050
|
NM_000275.3(OCA2):c.1465A>G (p.Asn489Asp)
|
rs121918170
|
0.00043
|
NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met)
|
rs142763740
|
0.00032
|
NM_018117.12(WDR11):c.3450T>G (p.Phe1150Leu)
|
rs139007744
|
0.00031
|
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe)
|
rs5030868
|
0.00028
|
NM_000053.4(ATP7B):c.122A>G (p.Asn41Ser)
|
rs201738967
|
0.00025
|
NM_000237.3(LPL):c.644G>A (p.Gly215Glu)
|
rs118204057
|
0.00024
|
NM_002769.5(PRSS1):c.623G>C (p.Gly208Ala)
|
rs189270875
|
0.00024
|
NM_014946.4(SPAST):c.1625A>G (p.Asp542Gly)
|
rs142053576
|
0.00024
|
NM_000088.4(COL1A1):c.1691G>A (p.Arg564His)
|
rs1800211
|
0.00021
|
NM_000488.4(SERPINC1):c.236G>A (p.Arg79His)
|
rs121909552
|
0.00018
|
NM_001080413.3(NOBOX):c.1483C>A (p.Pro495Thr)
|
rs762648490
|
0.00018
|
NM_001001548.3(CD36):c.1079T>G (p.Leu360Ter)
|
rs56381858
|
0.00017
|
NM_020247.5(COQ8A):c.1665G>A (p.Met555Ile)
|
rs199874519
|
0.00016
|
NM_000243.3(MEFV):c.2080A>G (p.Met694Val)
|
rs61752717
|
0.00012
|
NM_000093.5(COL5A1):c.1888C>T (p.Arg630Trp)
|
rs577618553
|
0.00011
|
NM_014915.3(ANKRD26):c.2005A>G (p.Asn669Asp)
|
rs368602859
|
0.00010
|
NM_000059.4(BRCA2):c.3218A>G (p.Gln1073Arg)
|
rs80358566
|
0.00009
|
NM_007194.4(CHEK2):c.349A>G (p.Arg117Gly)
|
rs28909982
|
0.00009
|
NM_006767.4(LZTR1):c.1084C>T (p.Arg362Ter)
|
rs189150283
|
0.00007
|
NM_007194.4(CHEK2):c.1421G>A (p.Arg474His)
|
rs121908706
|
0.00007
|
NM_000441.2(SLC26A4):c.1226G>A (p.Arg409His)
|
rs111033305
|
0.00006
|
NM_000535.7(PMS2):c.632G>A (p.Arg211Gln)
|
rs587781934
|
0.00006
|
NM_006295.3(VARS1):c.3173G>A (p.Arg1058Gln)
|
rs769369302
|
0.00006
|
NM_001848.3(COL6A1):c.994G>A (p.Gly332Ser)
|
rs11701912
|
0.00005
|
NM_053025.4(MYLK):c.5702C>T (p.Thr1901Met)
|
rs200490629
|
0.00005
|
NM_000128.4(F11):c.723C>G (p.Phe241Leu)
|
rs281875265
|
0.00004
|
NM_000527.5(LDLR):c.798T>A (p.Asp266Glu)
|
rs139043155
|
0.00004
|
NM_000558.5(HBA1):c.358C>T (p.Pro120Ser)
|
rs63750751
|
0.00004
|
NM_007294.4(BRCA1):c.3454G>A (p.Asp1152Asn)
|
rs80357175
|
0.00004
|
NM_000113.3(TOR1A):c.862C>T (p.Arg288Ter)
|
rs760768475
|
0.00003
|
NM_000133.4(F9):c.391+4A>G
|
rs749754992
|
0.00003
|
NM_001134407.3(GRIN2A):c.3578T>G (p.Leu1193Trp)
|
rs75761674
|
0.00003
|
NM_030773.4(TUBB1):c.952C>T (p.Arg318Trp)
|
rs121918555
|
0.00003
|
NM_000027.4(AGA):c.503G>A (p.Trp168Ter)
|
rs386833430
|
0.00002
|
NM_000053.4(ATP7B):c.3505A>G (p.Met1169Val)
|
rs749085322
|
0.00002
|
NM_000057.4(BLM):c.3028del (p.Asp1010fs)
|
rs780379121
|
0.00002
|
NM_000059.4(BRCA2):c.10202C>T (p.Thr3401Met)
|
rs55853199
|
0.00002
|
NM_000093.5(COL5A1):c.187G>A (p.Ala63Thr)
|
rs749697867
|
0.00002
|
NM_000093.5(COL5A1):c.2635C>A (p.Gln879Lys)
|
rs758475317
|
0.00002
|
NM_000138.5(FBN1):c.7754T>C (p.Ile2585Thr)
|
rs727503054
|
0.00002
|
NM_000257.4(MYH7):c.5135G>A (p.Arg1712Gln)
|
rs193922390
|
0.00002
|
NM_000312.4(PROC):c.925G>A (p.Ala309Thr)
|
rs121918146
|
0.00002
|
NM_000497.4(CYP11B1):c.995G>A (p.Arg332Gln)
|
rs149881706
|
0.00002
|
NM_000048.4(ASL):c.707G>A (p.Arg236Gln)
|
rs764602422
|
0.00001
|
NM_000051.4(ATM):c.8549T>A (p.Leu2850Ter)
|
rs876658716
|
0.00001
|
NM_000059.4(BRCA2):c.8350C>T (p.Arg2784Trp)
|
rs80359075
|
0.00001
|
NM_000059.4(BRCA2):c.9371A>T (p.Asn3124Ile)
|
rs28897759
|
0.00001
|
NM_000312.4(PROC):c.1106C>T (p.Pro369Leu)
|
rs1211098698
|
0.00001
|
NM_000441.2(SLC26A4):c.3G>C (p.Met1Ile)
|
rs786204426
|
0.00001
|
NM_000455.5(STK11):c.632G>A (p.Arg211Gln)
|
rs730881982
|
0.00001
|
NM_000465.4(BARD1):c.2129A>T (p.Asp710Val)
|
rs150121935
|
0.00001
|
NM_000488.4(SERPINC1):c.133C>T (p.Arg45Trp)
|
rs768704768
|
0.00001
|
NM_000488.4(SERPINC1):c.391C>T (p.Leu131Phe)
|
rs121909567
|
0.00001
|
NM_000527.5(LDLR):c.1359-1G>A
|
rs139617694
|
0.00001
|
NM_000527.5(LDLR):c.502G>A (p.Asp168Asn)
|
rs200727689
|
0.00001
|
NM_001849.4(COL6A2):c.2099G>A (p.Gly700Asp)
|
rs2078657536
|
0.00001
|
NM_001849.4(COL6A2):c.2483C>T (p.Thr828Met)
|
rs755782924
|
0.00001
|
NM_002834.5(PTPN11):c.188A>G (p.Tyr63Cys)
|
rs121918459
|
0.00001
|
NM_003482.4(KMT2D):c.3455C>T (p.Pro1152Leu)
|
rs765863571
|
0.00001
|
NM_005912.3(MC4R):c.496G>A (p.Val166Ile)
|
rs942758928
|
0.00001
|
NM_006772.3(SYNGAP1):c.3308G>A (p.Arg1103His)
|
rs764952741
|
0.00001
|
NM_000051.4(ATM):c.7875_7876delinsGC (p.Asp2625_Ala2626delinsGluPro)
|
rs267606668
|
|
NM_000128.4(F11):c.977G>A (p.Arg326His)
|
rs1554082932
|
|
NM_000249.4(MLH1):c.199G>A (p.Gly67Arg)
|
rs63750206
|
|
NM_000251.3(MSH2):c.2576_2584del (p.Glu859_Gln861del)
|
rs587781278
|
|
NM_000277.3(PAH):c.47_48del (p.Leu15_Ser16insTer)
|
rs62642906
|
|
NM_000313.4(PROS1):c.1501T>C (p.Ser501Pro)
|
rs121918472
|
|
NM_000466.3(PEX1):c.2097dup (p.Ile700fs)
|
rs61750415
|
|
NM_000488.4(SERPINC1):c.1157T>C (p.Ile386Thr)
|
rs1449772752
|
|
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del)
|
rs113993960
|
|
NM_000492.4(CFTR):c.224G>A (p.Arg75Gln)
|
rs1800076
|
|
NM_000500.9(CYP21A2):c.1439G>T (p.Arg480Leu)
|
rs184649564
|
|
NM_000500.9(CYP21A2):c.293-13C>G
|
rs6467
|
|
NM_000500.9(CYP21A2):c.844G>T (p.Val282Leu)
|
rs6471
|
|
NM_000527.5(LDLR):c.1027G>A (p.Gly343Ser)
|
|
|
NM_000527.5(LDLR):c.1285G>A (p.Val429Met)
|
|
|
NM_000527.5(LDLR):c.1783C>T (p.Arg595Trp)
|
|
|
NM_000527.5(LDLR):c.542C>G (p.Pro181Arg)
|
rs557344672
|
|
NM_000535.7(PMS2):c.354-1G>A
|
rs786203954
|
|
NM_000540.3(RYR1):c.14761TTC[3] (p.Phe4924del)
|
rs1064794572
|
|
NM_000552.5(VWF):c.4636del (p.Met1545_Val1546insTer)
|
rs267607345
|
|
NM_001042424.3(NSD2):c.1348C>T (p.Arg450Ter)
|
rs2108805626
|
|
NM_001042492.3(NF1):c.2798T>C (p.Leu933Pro)
|
rs1555614342
|
|
NM_001042492.3(NF1):c.5521C>T (p.Gln1841Ter)
|
rs786203570
|
|
NM_001083962.2(TCF4):c.1486G>A (p.Gly496Ser)
|
rs1599570613
|
|
NM_001110556.2(FLNA):c.3637G>A (p.Gly1213Ser)
|
|
|
NM_001110792.2(MECP2):c.509C>T (p.Thr170Met)
|
rs28934906
|
|
NM_001134673.4(NFIA):c.361C>T (p.Arg121Cys)
|
rs886039429
|
|
NM_001165963.4(SCN1A):c.5066T>C (p.Met1689Thr)
|
|
|
NM_001190274.2(FBXO11):c.2729A>G (p.Asp910Gly)
|
rs1670355281
|
|
NM_001303052.2(MYT1L):c.2221_2230del (p.Thr741fs)
|
rs1253072668
|
|
NM_001349338.3(FOXP1):c.1540C>T (p.Arg514Cys)
|
rs869025203
|
|
NM_001845.6(COL4A1):c.3715G>A (p.Gly1239Arg)
|
rs1085307709
|
|
NM_004369.4(COL6A3):c.1630C>T (p.Arg544Trp)
|
|
|
NM_005027.4(PIK3R2):c.1117G>A (p.Gly373Arg)
|
rs587776934
|
|
NM_005373.3(MPL):c.823C>A (p.Pro275Thr)
|
rs28928908
|
|
NM_014112.5(TRPS1):c.769C>T (p.Arg257Ter)
|
rs2130531352
|
|
NM_014712.3(SETD1A):c.2665C>T (p.Arg889Trp)
|
|
|
NM_019616.4(F7):c.1325del (p.Pro442fs)
|
rs750457207
|
|
NM_138694.4(PKHD1):c.8552T>C (p.Ile2851Thr)
|
rs1554232224
|
|
NM_177559.3(CSNK2A1):c.593A>G (p.Lys198Arg)
|
rs869312840
|
|
NM_182916.3(TRNT1):c.498_501del (p.Phe167fs)
|
rs754883449
|
|
NM_183235.3(RAB27A):c.259G>C (p.Ala87Pro)
|
rs104894497
|
|
NM_206933.4(USH2A):c.9424G>T (p.Gly3142Ter)
|
rs397518048
|
|