NM_005957.5(MTHFR):c.665C>T (p.Ala222Val)
|
rs1801133
|
0.27446
|
NM_005105.5(RBM8A):c.-21G>A
|
rs139428292
|
0.01871
|
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_025152.3(NUBPL):c.815-27T>C
|
rs118161496
|
0.00348
|
NM_012275.3(IL36RN):c.338C>T (p.Ser113Leu)
|
rs144478519
|
0.00264
|
NM_000016.6(ACADM):c.127G>A (p.Glu43Lys)
|
rs147559466
|
0.00210
|
NM_005609.4(PYGM):c.660G>A (p.Gln220=)
|
rs142234258
|
0.00161
|
NM_000350.3(ABCA4):c.5693G>A (p.Arg1898His)
|
rs1800552
|
0.00153
|
NM_000506.3(F2):c.598G>A (p.Glu200Lys)
|
rs62623459
|
0.00138
|
NM_178857.6(RP1L1):c.5959C>T (p.Gln1987Ter)
|
rs200846354
|
0.00124
|
NM_000492.4(CFTR):c.2900T>C (p.Leu967Ser)
|
rs1800110
|
0.00106
|
NM_001292063.2(OTOG):c.7693+1G>A
|
rs548496846
|
0.00091
|
NM_000350.3(ABCA4):c.5077G>A (p.Val1693Ile)
|
rs61750563
|
0.00088
|
NM_000275.3(OCA2):c.1103C>T (p.Ala368Val)
|
rs61745150
|
0.00086
|
NM_000083.3(CLCN1):c.501C>G (p.Phe167Leu)
|
rs149729531
|
0.00075
|
NM_005609.4(PYGM):c.1094C>T (p.Ala365Val)
|
rs116135678
|
0.00074
|
NM_017721.5(CC2D1A):c.2657G>A (p.Arg886His)
|
rs201921029
|
0.00072
|
NM_000483.5(APOC2):c.122A>C (p.Lys41Thr)
|
rs120074114
|
0.00071
|
NM_000350.3(ABCA4):c.1140T>A (p.Asn380Lys)
|
rs61748549
|
0.00066
|
NM_001006658.3(CR2):c.2298G>A (p.Trp766Ter)
|
rs151093663
|
0.00065
|
NM_002693.3(POLG):c.1402A>G (p.Asn468Asp)
|
rs145843073
|
0.00063
|
NM_206933.4(USH2A):c.12575G>A (p.Arg4192His)
|
rs199605265
|
0.00046
|
NM_000492.4(CFTR):c.509G>A (p.Arg170His)
|
rs1800079
|
0.00045
|
NM_001276345.2(TNNT2):c.862C>T (p.Arg288Cys)
|
rs121964857
|
0.00044
|
NM_000083.3(CLCN1):c.1453A>G (p.Met485Val)
|
rs146457619
|
0.00039
|
NM_020442.6(VARS2):c.1168G>A (p.Ala390Thr)
|
rs202201763
|
0.00039
|
NM_001609.4(ACADSB):c.303+1G>A
|
rs147936696
|
0.00037
|
NM_000492.4(CFTR):c.2421A>G (p.Ile807Met)
|
rs1800103
|
0.00034
|
NM_012452.3(TNFRSF13B):c.260T>A (p.Ile87Asn)
|
rs72553877
|
0.00034
|
NM_000327.4(ROM1):c.339dup (p.Leu114fs)
|
rs71458427
|
0.00033
|
NM_000350.3(ABCA4):c.514G>A (p.Gly172Ser)
|
rs61748532
|
0.00033
|
NM_000275.3(OCA2):c.593C>T (p.Pro198Leu)
|
rs183487020
|
0.00031
|
NM_000335.5(SCN5A):c.1844G>A (p.Gly615Glu)
|
rs12720452
|
0.00030
|
NM_006017.3(PROM1):c.604C>G (p.Arg202Gly)
|
rs140872693
|
0.00026
|
NM_170707.4(LMNA):c.1634G>A (p.Arg545His)
|
rs142191737
|
0.00025
|
NM_024306.5(FA2H):c.232G>A (p.Glu78Lys)
|
rs527421775
|
0.00024
|
NM_032043.3(BRIP1):c.139C>G (p.Pro47Ala)
|
rs28903098
|
0.00024
|
NM_144666.3(DNHD1):c.2683C>T (p.Gln895Ter)
|
rs929548279
|
0.00024
|
NM_000260.4(MYO7A):c.2476G>A (p.Ala826Thr)
|
rs368341987
|
0.00021
|
NM_206933.4(USH2A):c.4106C>T (p.Ser1369Leu)
|
rs201709513
|
0.00019
|
NM_000132.4(F8):c.396A>C (p.Glu132Asp)
|
rs137852388
|
0.00018
|
NM_001204.7(BMPR2):c.545G>A (p.Gly182Asp)
|
rs137852754
|
0.00016
|
NM_000113.3(TOR1A):c.613T>A (p.Phe205Ile)
|
rs267607134
|
0.00014
|
NM_000153.4(GALC):c.266C>T (p.Pro89Leu)
|
rs201422931
|
0.00014
|
NM_030973.4(MED25):c.1966C>A (p.Pro656Thr)
|
rs199761611
|
0.00014
|
NM_000337.6(SGCD):c.451T>G (p.Ser151Ala)
|
rs121909298
|
0.00012
|
NM_012452.3(TNFRSF13B):c.512T>G (p.Leu171Arg)
|
rs143027621
|
0.00012
|
NM_000243.3(MEFV):c.800C>T (p.Thr267Ile)
|
rs104895081
|
0.00011
|
NM_000256.3(MYBPC3):c.442G>A (p.Gly148Arg)
|
rs397516050
|
0.00011
|
NM_002335.4(LRP5):c.3245A>G (p.Tyr1082Cys)
|
rs113804402
|
0.00011
|
NM_170707.4(LMNA):c.1718C>T (p.Ser573Leu)
|
rs60890628
|
0.00011
|
NM_004646.4(NPHS1):c.2335-1G>A
|
rs150038620
|
0.00009
|
NM_013291.3(CPSF1):c.2823_2824del (p.Val943fs)
|
rs782640869
|
0.00009
|
NM_022124.6(CDH23):c.2866G>A (p.Glu956Lys)
|
rs756147087
|
0.00009
|
NM_000501.4(ELN):c.1150+1G>A
|
rs727503030
|
0.00006
|
NM_000540.3(RYR1):c.9579C>G (p.Cys3193Trp)
|
rs587784379
|
0.00006
|
NM_001142800.2(EYS):c.9392G>C (p.Gly3131Ala)
|
rs772888249
|
0.00006
|
NM_006005.3(WFS1):c.977C>T (p.Ala326Val)
|
rs369795224
|
0.00006
|
NM_006059.4(LAMC3):c.3871C>T (p.Arg1291Ter)
|
rs201793200
|
0.00006
|
NM_206933.4(USH2A):c.14219C>A (p.Ala4740Asp)
|
rs539192853
|
0.00006
|
NM_000256.3(MYBPC3):c.1831G>A (p.Glu611Lys)
|
rs730880555
|
0.00005
|
NM_000485.3(APRT):c.400+2dup
|
rs745594160
|
0.00005
|
NM_005619.5(RTN2):c.939del (p.Thr314fs)
|
rs768449676
|
0.00005
|
NM_032756.4(HPDL):c.469T>C (p.Trp157Arg)
|
rs567130416
|
0.00005
|
NM_000335.5(SCN5A):c.4475A>G (p.Lys1492Arg)
|
rs199473260
|
0.00004
|
NM_001367624.2(ZNF469):c.10324del (p.Arg3442fs)
|
rs756543273
|
0.00004
|
NM_002693.3(POLG):c.428C>T (p.Ala143Val)
|
rs796052899
|
0.00004
|
NM_003119.4(SPG7):c.1948G>A (p.Asp650Asn)
|
rs769602042
|
0.00004
|
NM_006767.4(LZTR1):c.1394C>T (p.Ala465Val)
|
rs753757778
|
0.00004
|
NM_206933.4(USH2A):c.11713C>T (p.Arg3905Cys)
|
rs368675850
|
0.00004
|
NM_000238.4(KCNH2):c.2843G>A (p.Arg948His)
|
rs199473011
|
0.00003
|
NM_000350.3(ABCA4):c.6721C>G (p.Leu2241Val)
|
rs61748521
|
0.00003
|
NM_006059.4(LAMC3):c.976+1G>C
|
rs201519274
|
0.00003
|
NM_017654.4(SAMD9):c.3381C>A (p.Tyr1127Ter)
|
rs572380130
|
0.00003
|
NM_000260.4(MYO7A):c.3502C>T (p.Arg1168Trp)
|
rs554073390
|
0.00002
|
NM_000747.3(CHRNB1):c.248G>A (p.Trp83Ter)
|
rs766823872
|
0.00002
|
NM_002230.4(JUP):c.902A>G (p.Glu301Gly)
|
rs782058451
|
0.00002
|
NM_020461.4(TUBGCP6):c.5112del (p.Asp1705fs)
|
rs764772232
|
0.00002
|
NM_020944.3(GBA2):c.515G>A (p.Arg172His)
|
rs200268523
|
0.00002
|
NM_170707.4(LMNA):c.1318G>A (p.Val440Met)
|
rs121912493
|
0.00002
|
NM_000271.5(NPC1):c.2972_2973del (p.Gln991fs)
|
rs756815030
|
0.00001
|
NM_000283.4(PDE6B):c.409G>A (p.Gly137Arg)
|
rs781658083
|
0.00001
|
NM_000350.3(ABCA4):c.5113C>T (p.Arg1705Trp)
|
rs771038310
|
0.00001
|
NM_000531.6(OTC):c.374C>T (p.Thr125Met)
|
rs72554356
|
0.00001
|
NM_000535.7(PMS2):c.2249G>A (p.Gly750Asp)
|
rs587779337
|
0.00001
|
NM_000540.3(RYR1):c.8026C>T (p.Arg2676Trp)
|
rs193922826
|
0.00001
|
NM_001182.5(ALDH7A1):c.575C>T (p.Thr192Met)
|
rs376917645
|
0.00001
|
NM_001184.4(ATR):c.7273C>T (p.Arg2425Ter)
|
rs1310011888
|
0.00001
|
NM_001297.5(CNGB1):c.2603G>A (p.Gly868Asp)
|
rs770961534
|
0.00001
|
NM_001358263.1(HK1):c.75+20308C>T
|
rs756166032
|
0.00001
|
NM_001365536.1(SCN9A):c.377+5C>T
|
rs200972952
|
0.00001
|
NM_001374623.1(PNPLA1):c.704C>T (p.Pro235Leu)
|
rs376245108
|
0.00001
|
NM_001939.3(DRP2):c.43C>T (p.Arg15Ter)
|
rs756695526
|
0.00001
|
NM_004004.6(GJB2):c.32_45del (p.Gly11fs)
|
rs1290698257
|
0.00001
|
NM_004076.5(CRYBB3):c.466G>A (p.Gly156Arg)
|
rs1203386884
|
0.00001
|
NM_004183.4(BEST1):c.682G>A (p.Asp228Asn)
|
rs267606676
|
0.00001
|
NM_005245.4(FAT1):c.12808C>T (p.Arg4270Ter)
|
rs373689624
|
0.00001
|
NM_005276.4(GPD1):c.895G>A (p.Gly299Arg)
|
rs889092603
|
0.00001
|
NM_006017.3(PROM1):c.1209_1229del (p.Gln403_Ser410delinsHis)
|
rs777497868
|
0.00001
|
NM_006031.6(PCNT):c.6162_6163del (p.Lys2054fs)
|
rs778391726
|
0.00001
|
NM_006516.4(SLC2A1):c.278G>A (p.Arg93Gln)
|
rs80359815
|
0.00001
|
NM_007294.4(BRCA1):c.4096+1G>A
|
rs80358178
|
0.00001
|
NM_015214.3(DDHD2):c.568C>T (p.Arg190Ter)
|
rs377293194
|
0.00001
|
NM_018359.5(UFSP2):c.344T>A (p.Val115Glu)
|
rs142500730
|
0.00001
|
NM_033629.6(TREX1):c.218C>T (p.Pro73Leu)
|
rs755919767
|
0.00001
|
NM_000070.3(CAPN3):c.1117T>C (p.Trp373Arg)
|
rs775453643
|
|
NM_000094.4(COL7A1):c.3942dup (p.Asn1315fs)
|
rs747912732
|
|
NM_000151.4(G6PC1):c.965T>A (p.Phe322Tyr)
|
rs863224022
|
|
NM_000153.4(GALC):c.1158_1161+6del
|
rs759068540
|
|
NM_000256.3(MYBPC3):c.709T>C (p.Tyr237His)
|
rs730880624
|
|
NM_000260.4(MYO7A):c.1117C>T (p.Arg373Cys)
|
rs868979094
|
|
NM_000283.4(PDE6B):c.2152G>A (p.Asp718Asn)
|
rs150639487
|
|
NM_000350.3(ABCA4):c.746A>G (p.Asp249Gly)
|
rs62646865
|
|
NM_000350.3(ABCA4):c.769-784C>T
|
|
|
NM_000435.3(NOTCH3):c.3298C>T (p.Arg1100Cys)
|
|
|
NM_000492.4(CFTR):c.2758G>T (p.Val920Leu)
|
rs373885282
|
|
NM_000498.3(CYP11B2):c.542G>A (p.Arg181Gln)
|
|
|
NM_000551.4(VHL):c.500G>A (p.Arg167Gln)
|
rs5030821
|
|
NM_000742.4(CHRNA2):c.1126C>T (p.Arg376Trp)
|
rs1018084204
|
|
NM_000814.6(GABRB3):c.380A>G (p.Lys127Arg)
|
rs1057519201
|
|
NM_001005273.3(CHD3):c.2897G>A (p.Arg966Gln)
|
rs1555611692
|
|
NM_001040142.2(SCN2A):c.2642T>C (p.Leu881Pro)
|
rs796053116
|
|
NM_001040142.2(SCN2A):c.2990A>G (p.Asp997Gly)
|
rs1057523786
|
|
NM_001100913.3(PACS2):c.631G>A (p.Glu211Lys)
|
rs1595718024
|
|
NM_001104631.2(PDE4D):c.1762A>G (p.Met588Val)
|
rs1554033934
|
|
NM_001110556.2(FLNA):c.1923C>T (p.Gly641=)
|
rs80338841
|
|
NM_001127222.2(CACNA1A):c.4927G>A (p.Asp1643Asn)
|
rs1064795531
|
|
NM_001127222.2(CACNA1A):c.526G>A (p.Val176Met)
|
rs1057521920
|
|
NM_001130438.3(SPTAN1):c.55C>T (p.Arg19Trp)
|
rs748232676
|
|
NM_001163435.3(TBCK):c.2512C>T (p.Gln838Ter)
|
rs1740799305
|
|
NM_001166114.2(PNPLA6):c.3517C>T (p.Arg1173Trp)
|
rs766389806
|
|
NM_001195553.2(DCX):c.667G>A (p.Gly223Arg)
|
rs587783577
|
|
NM_001205293.3(CACNA1E):c.5267+5G>A
|
rs2102796431
|
|
NM_001320.7(CSNK2B):c.257G>A (p.Arg86His)
|
|
|
NM_001323289.2(CDKL5):c.2821del (p.Tyr941fs)
|
rs1602300837
|
|
NM_001330260.2(SCN8A):c.4441A>G (p.Met1481Val)
|
rs886041670
|
|
NM_001376.5(DYNC1H1):c.751C>T (p.Arg251Cys)
|
rs879253979
|
|
NM_001830.4(CLCN4):c.1389+5G>A
|
rs879255590
|
|
NM_001939.3(DRP2):c.973C>T (p.Gln325Ter)
|
rs1556419606
|
|
NM_002063.4(GLRA2):c.887C>T (p.Thr296Met)
|
rs1601761445
|
|
NM_002074.5(GNB1):c.346G>A (p.Gly116Ser)
|
rs1231842600
|
|
NM_002107.7(H3-3A):c.365C>T (p.Pro122Leu)
|
rs1576203003
|
|
NM_002834.5(PTPN11):c.10C>G (p.Arg4Gly)
|
rs886041517
|
|
NM_002834.5(PTPN11):c.661A>G (p.Ile221Val)
|
rs397516806
|
|
NM_003042.4(SLC6A1):c.1377C>A (p.Ser459Arg)
|
rs1064795099
|
|
NM_003560.4(PLA2G6):c.2098C>T (p.Gln700Ter)
|
rs587784346
|
|
NM_004311.4(ARL3):c.446G>A (p.Arg149His)
|
rs770782663
|
|
NM_004700.4(KCNQ4):c.1012C>T (p.Arg338Trp)
|
rs2148320413
|
|
NM_004859.4(CLTC):c.2325_2327del (p.Ile776del)
|
rs1598233581
|
|
NM_005027.4(PIK3R2):c.1694C>G (p.Pro565Arg)
|
rs1131691683
|
|
NM_006009.4(TUBA1A):c.521C>T (p.Ala174Val)
|
rs587784489
|
|
NM_006218.4(PIK3CA):c.325GAA[1] (p.Glu110del)
|
rs1724343994
|
|
NM_006306.4(SMC1A):c.793_795del (p.Glu265del)
|
rs1602413408
|
|
NM_006796.3(AFG3L2):c.1064C>T (p.Thr355Met)
|
rs1057522195
|
|
NM_006940.6(SOX5):c.1678A>G (p.Met560Val)
|
rs1591908609
|
|
NM_013275.6(ANKRD11):c.7607G>A (p.Arg2536Gln)
|
rs2033511172
|
|
NM_013275.6(ANKRD11):c.7753C>T (p.Arg2585Cys)
|
rs1567537304
|
|
NM_014516.4(CNOT3):c.732del (p.Ser245fs)
|
rs753475896
|
|
NM_018052.5(VAC14):c.1744G>A (p.Ala582Thr)
|
rs749094914
|
|
NM_018263.6(ASXL2):c.1879dup (p.Ser627fs)
|
rs1574391468
|
|
NM_021008.4(DEAF1):c.641T>C (p.Leu214Pro)
|
rs1590017658
|
|
NM_021008.4(DEAF1):c.646A>G (p.Lys216Glu)
|
rs1590017652
|
|
NM_021008.4(DEAF1):c.658G>A (p.Gly220Ser)
|
rs751569402
|
|
NM_021930.6(RINT1):c.310C>T (p.Arg104Ter)
|
rs777242801
|
|
NM_022726.4(ELOVL4):c.698C>T (p.Thr233Met)
|
rs1554162016
|
|
NM_024740.2(ALG9):c.1173+2T>A
|
rs786205134
|
|
NM_024996.7(GFM1):c.829dup (p.Ser277fs)
|
rs771865940
|
|
NM_130837.3(OPA1):c.1681+3A>G
|
rs1553878573
|
|
NM_144666.3(DNHD1):c.12240del (p.Lys4080fs)
|
rs751352585
|
|
NM_144773.4(PROKR2):c.254G>A (p.Arg85His)
|
rs74315418
|
|
NM_144991.3(TSPEAR):c.1870G>T (p.Glu624Ter)
|
rs587717339
|
|
NM_145239.3(PRRT2):c.323_324del (p.Thr108fs)
|
rs886041327
|
|
NM_172107.4(KCNQ2):c.553G>A (p.Ala185Thr)
|
rs1600786349
|
|
NM_205850.3(SLC24A5):c.546T>A (p.Ser182Arg)
|
rs1057517995
|
|
NM_206933.4(USH2A):c.1039G>C (p.Asp347His)
|
rs772317024
|
|
NM_206933.4(USH2A):c.1531G>A (p.Glu511Lys)
|
rs767209934
|
|
NM_206933.4(USH2A):c.2953T>C (p.Cys985Arg)
|
rs1171264735
|
|
NM_206933.4(USH2A):c.3713C>G (p.Thr1238Arg)
|
rs768461447
|
|
NM_206965.2(FTCD):c.1366dup (p.Glu456fs)
|
rs777099958
|
|