NM_005105.5(RBM8A):c.*6C>G
|
rs12079762
|
0.04454
|
NM_000350.3(ABCA4):c.6320G>A (p.Arg2107His)
|
rs62642564
|
0.00654
|
NM_000350.3(ABCA4):c.4253+43G>A
|
rs61754045
|
0.00486
|
NM_001171.6(ABCC6):c.1171A>G (p.Arg391Gly)
|
rs72653762
|
0.00459
|
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr)
|
rs17879961
|
0.00434
|
NM_152419.3(HGSNAT):c.1843G>A (p.Ala615Thr)
|
rs112029032
|
0.00361
|
NM_012275.3(IL36RN):c.338C>T (p.Ser113Leu)
|
rs144478519
|
0.00264
|
NM_000065.5(C6):c.2381+2T>C
|
rs76202909
|
0.00242
|
NM_000552.5(VWF):c.4751A>G (p.Tyr1584Cys)
|
rs1800386
|
0.00237
|
NM_000350.3(ABCA4):c.2971G>C (p.Gly991Arg)
|
rs61749455
|
0.00194
|
NM_004771.4(MMP20):c.389C>T (p.Thr130Ile)
|
rs61730849
|
0.00180
|
NM_007055.4(POLR3A):c.1909+22G>A
|
rs191875469
|
0.00156
|
NM_000454.5(SOD1):c.272A>C (p.Asp91Ala)
|
rs80265967
|
0.00126
|
NM_000552.5(VWF):c.5191T>A (p.Ser1731Thr)
|
rs61750603
|
0.00101
|
NM_000350.3(ABCA4):c.5077G>A (p.Val1693Ile)
|
rs61750563
|
0.00088
|
NM_025216.3(WNT10A):c.337C>T (p.Arg113Cys)
|
rs141074983
|
0.00080
|
NM_006005.3(WFS1):c.1597C>T (p.Pro533Ser)
|
rs146132083
|
0.00076
|
NM_001001548.3(CD36):c.1156C>T (p.Arg386Trp)
|
rs148910227
|
0.00072
|
NM_206933.4(USH2A):c.12145G>A (p.Ala4049Thr)
|
rs143696882
|
0.00066
|
NM_138694.4(PKHD1):c.5134G>A (p.Gly1712Arg)
|
rs141103838
|
0.00056
|
NM_000463.3(UGT1A1):c.1091C>T (p.Pro364Leu)
|
rs34946978
|
0.00053
|
NM_000492.4(CFTR):c.2249C>T (p.Pro750Leu)
|
rs140455771
|
0.00041
|
NM_020117.11(LARS1):c.1292T>A (p.Val431Asp)
|
rs150429680
|
0.00041
|
NM_178452.6(DNAAF1):c.1698+1G>A
|
rs139519641
|
0.00041
|
NM_020442.6(VARS2):c.1168G>A (p.Ala390Thr)
|
rs202201763
|
0.00039
|
NM_203447.4(DOCK8):c.54-1G>T
|
rs192864327
|
0.00036
|
NM_000091.5(COL4A3):c.3829G>A (p.Gly1277Ser)
|
rs190598500
|
0.00035
|
NM_006005.3(WFS1):c.1672C>T (p.Arg558Cys)
|
rs199946797
|
0.00035
|
NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met)
|
rs142763740
|
0.00032
|
NM_012452.3(TNFRSF13B):c.204dup (p.Leu69fs)
|
rs72553875
|
0.00031
|
NM_000277.3(PAH):c.688G>A (p.Val230Ile)
|
rs62516152
|
0.00029
|
NM_144991.3(TSPEAR):c.589C>T (p.Arg197Ter)
|
rs139455627
|
0.00027
|
NM_005422.4(TECTA):c.327C>T (p.Gly109=)
|
rs727504830
|
0.00026
|
NM_000275.3(OCA2):c.1025A>G (p.Tyr342Cys)
|
rs142931246
|
0.00025
|
NM_001395891.1(CLASP1):c.196-562G>A
|
rs370715569
|
0.00025
|
NM_000743.5(CHRNA3):c.907_908del (p.Leu303fs)
|
rs538193392
|
0.00024
|
NM_002693.3(POLG):c.2246T>C (p.Phe749Ser)
|
rs202037973
|
0.00024
|
NM_001366385.1(CARD14):c.205C>T (p.Arg69Trp)
|
rs375624435
|
0.00022
|
NM_003500.4(ACOX2):c.673C>T (p.Arg225Trp)
|
rs150832314
|
0.00022
|
NM_001081.4(CUBN):c.9079G>A (p.Gly3027Arg)
|
rs150202444
|
0.00021
|
NM_012452.3(TNFRSF13B):c.236A>G (p.Tyr79Cys)
|
rs72553876
|
0.00021
|
NM_001144869.3(LIPT2):c.377T>G (p.Leu126Arg)
|
rs753904927
|
0.00020
|
NM_003049.4(SLC10A1):c.755G>A (p.Arg252His)
|
rs147226818
|
0.00020
|
NM_001354768.3(NRL):c.654del (p.Cys219fs)
|
rs761024023
|
0.00019
|
NM_014384.3(ACAD8):c.958G>A (p.Ala320Thr)
|
rs200620279
|
0.00019
|
NM_015311.3(OBSL1):c.3922C>T (p.Arg1308Ter)
|
rs561778744
|
0.00018
|
NM_000271.5(NPC1):c.2524T>C (p.Phe842Leu)
|
rs190298665
|
0.00017
|
NM_000441.2(SLC26A4):c.349C>T (p.Leu117Phe)
|
rs145254330
|
0.00017
|
NM_000094.4(COL7A1):c.5086C>T (p.Arg1696Cys)
|
rs2229820
|
0.00016
|
NM_000492.4(CFTR):c.489+3A>G
|
rs377729736
|
0.00016
|
NM_006005.3(WFS1):c.2020G>A (p.Gly674Arg)
|
rs200672755
|
0.00016
|
NM_001130987.2(DYSF):c.3175C>T (p.Arg1059Cys)
|
rs144598063
|
0.00014
|
NM_017777.4(MKS1):c.417G>A (p.Glu139=)
|
rs386834048
|
0.00014
|
NM_005236.3(ERCC4):c.2395C>T (p.Arg799Trp)
|
rs121913049
|
0.00013
|
NM_000492.4(CFTR):c.1001G>A (p.Arg334Gln)
|
rs397508137
|
0.00011
|
NM_000492.4(CFTR):c.3297C>A (p.Phe1099Leu)
|
rs747754623
|
0.00011
|
NM_000492.4(CFTR):c.772A>G (p.Arg258Gly)
|
rs191456345
|
0.00011
|
NM_138694.4(PKHD1):c.8407T>C (p.Cys2803Arg)
|
rs398124495
|
0.00011
|
NM_000540.3(RYR1):c.4405C>T (p.Arg1469Trp)
|
rs200546266
|
0.00010
|
NM_000275.3(OCA2):c.2425T>A (p.Phe809Ile)
|
rs765779905
|
0.00009
|
NM_000443.4(ABCB4):c.1529A>G (p.Asn510Ser)
|
rs375315619
|
0.00009
|
NM_014714.4(IFT140):c.1565G>A (p.Gly522Glu)
|
rs199826737
|
0.00009
|
NM_022773.4(LMF1):c.295C>T (p.Gln99Ter)
|
rs752473648
|
0.00009
|
NM_025114.4(CEP290):c.4437+1G>A
|
rs760915898
|
0.00009
|
NM_001077365.2(POMT1):c.752C>T (p.Pro251Leu)
|
rs139660235
|
0.00008
|
NM_000135.4(FANCA):c.3624C>T (p.Ser1208=)
|
rs149797103
|
0.00006
|
NM_000152.5(GAA):c.2051C>T (p.Pro684Leu)
|
rs147327209
|
0.00006
|
NM_000158.4(GBE1):c.555+1G>T
|
rs759707498
|
0.00006
|
NM_000441.2(SLC26A4):c.1708G>A (p.Val570Ile)
|
rs397516421
|
0.00006
|
NM_000443.4(ABCB4):c.140G>A (p.Arg47Gln)
|
rs372685632
|
0.00006
|
NM_000497.4(CYP11B1):c.799+5G>C
|
rs193922542
|
0.00006
|
NM_001267550.2(TTN):c.35890C>T (p.Arg11964Ter)
|
rs1266298136
|
0.00006
|
NM_001360.3(DHCR7):c.89G>C (p.Gly30Ala)
|
rs200334114
|
0.00006
|
NM_006767.4(LZTR1):c.1396C>T (p.Arg466Trp)
|
rs550922200
|
0.00006
|
NM_006767.4(LZTR1):c.2062C>T (p.Arg688Cys)
|
rs587777178
|
0.00006
|
NM_020320.5(RARS2):c.1327T>C (p.Ser443Pro)
|
rs775295739
|
0.00006
|
NM_022437.3(ABCG8):c.788G>A (p.Arg263Gln)
|
rs137852990
|
0.00006
|
NM_025114.4(CEP290):c.6645+1G>A
|
rs201218801
|
0.00006
|
NM_033409.4(SLC52A3):c.62A>G (p.Asn21Ser)
|
rs199588390
|
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_000372.5(TYR):c.1063G>C (p.Ala355Pro)
|
rs62645908
|
0.00005
|
NM_000431.4(MVK):c.1139A>G (p.His380Arg)
|
rs104895324
|
0.00005
|
NM_000540.3(RYR1):c.10204T>G (p.Cys3402Gly)
|
rs367543058
|
0.00005
|
NM_000540.3(RYR1):c.14344G>A (p.Gly4782Arg)
|
rs746538672
|
0.00005
|
NM_000785.4(CYP27B1):c.1358G>A (p.Arg453His)
|
rs759208930
|
0.00005
|
NM_014908.4(DOLK):c.1558A>G (p.Thr520Ala)
|
rs374860681
|
0.00005
|
NM_019892.6(INPP5E):c.1754G>A (p.Arg585His)
|
rs752300607
|
0.00005
|
NM_025103.4(IFT74):c.1685-1G>T
|
rs200699377
|
0.00005
|
NM_000110.4(DPYD):c.1651G>A (p.Ala551Thr)
|
rs777425216
|
0.00004
|
NM_000282.4(PCCA):c.782A>G (p.Glu261Gly)
|
rs1169861687
|
0.00004
|
NM_000492.4(CFTR):c.3874-4522A>G
|
rs895394181
|
0.00004
|
NM_000501.4(ELN):c.164-2A>C
|
rs782096458
|
0.00004
|
NM_000939.4(POMC):c.433C>T (p.Arg145Cys)
|
rs756412997
|
0.00004
|
NM_001267550.2(TTN):c.36253C>T (p.Gln12085Ter)
|
rs1384922524
|
0.00004
|
NM_001330078.2(NRXN1):c.772+1032G>A
|
rs771759988
|
0.00004
|
NM_001363711.2(DUOX2):c.1295G>A (p.Arg432His)
|
rs530736554
|
0.00004
|
NM_002225.5(IVD):c.1232G>A (p.Arg411Gln)
|
rs143348838
|
0.00004
|
NM_003049.4(SLC10A1):c.132C>A (p.Cys44Ter)
|
rs200809908
|
0.00004
|
NM_018082.6(POLR3B):c.2303G>A (p.Arg768His)
|
rs267608687
|
0.00004
|
NM_206933.4(USH2A):c.11713C>T (p.Arg3905Cys)
|
rs368675850
|
0.00004
|
NM_000152.5(GAA):c.2105G>A (p.Arg702His)
|
rs398123172
|
0.00003
|
NM_000159.4(GCDH):c.1144G>A (p.Ala382Thr)
|
rs567564095
|
0.00003
|
NM_000257.4(MYH7):c.3133C>T (p.Arg1045Cys)
|
rs45611033
|
0.00003
|
NM_000283.4(PDE6B):c.299G>A (p.Arg100His)
|
rs555600300
|
0.00003
|
NM_000388.4(CASR):c.2303G>T (p.Gly768Val)
|
rs201858689
|
0.00003
|
NM_000439.5(PCSK1):c.470C>T (p.Thr157Met)
|
rs200462856
|
0.00003
|
NM_000492.4(CFTR):c.3208C>T (p.Arg1070Trp)
|
rs202179988
|
0.00003
|
NM_000540.3(RYR1):c.1589G>A (p.Arg530His)
|
rs111888148
|
0.00003
|
NM_000540.3(RYR1):c.7291G>A (p.Asp2431Asn)
|
rs193922810
|
0.00003
|
NM_001267550.2(TTN):c.17461+1G>T
|
rs747990127
|
0.00003
|
NM_001283009.2(RTEL1):c.2869C>T (p.Arg957Trp)
|
rs398123018
|
0.00003
|
NM_004453.4(ETFDH):c.1084G>A (p.Gly362Arg)
|
rs369711837
|
0.00003
|
NM_005373.3(MPL):c.1422G>A (p.Trp474Ter)
|
rs754859909
|
0.00003
|
NM_006767.4(LZTR1):c.842C>T (p.Pro281Leu)
|
rs1390048261
|
0.00003
|
NM_152305.3(POGLUT1):c.814C>T (p.Arg272Ter)
|
rs747897279
|
0.00003
|
NM_000023.4(SGCA):c.242G>A (p.Arg81His)
|
rs747984529
|
0.00002
|
NM_000033.4(ABCD1):c.1747G>A (p.Val583Met)
|
rs1569541120
|
0.00002
|
NM_000275.3(OCA2):c.874T>C (p.Phe292Leu)
|
rs745573222
|
0.00002
|
NM_000335.5(SCN5A):c.4498C>G (p.Leu1500Val)
|
rs199473266
|
0.00002
|
NM_000540.3(RYR1):c.11314C>T (p.Arg3772Trp)
|
rs763112609
|
0.00002
|
NM_000540.3(RYR1):c.122T>C (p.Phe41Ser)
|
rs766407858
|
0.00002
|
NM_001077365.2(POMT1):c.132A>C (p.Glu44Asp)
|
rs398124244
|
0.00002
|
NM_001267550.2(TTN):c.107628del (p.Asn35876fs)
|
rs766624923
|
0.00002
|
NM_001384732.1(CPLANE1):c.4634G>A (p.Arg1545His)
|
rs765457523
|
0.00002
|
NM_002335.4(LRP5):c.1519G>A (p.Gly507Ser)
|
rs765290711
|
0.00002
|
NM_003640.5(ELP1):c.312T>A (p.Cys104Ter)
|
rs1291760879
|
0.00002
|
NM_003846.3(PEX11B):c.361C>T (p.Gln121Ter)
|
rs782365743
|
0.00002
|
NM_014043.4(CHMP2B):c.376C>T (p.Gln126Ter)
|
rs1203007423
|
0.00002
|
NM_016222.4(DDX41):c.653G>A (p.Gly218Asp)
|
rs371460149
|
0.00002
|
NM_000033.4(ABCD1):c.1937C>T (p.Ala646Val)
|
rs1258368672
|
0.00001
|
NM_000059.4(BRCA2):c.8350C>T (p.Arg2784Trp)
|
rs80359075
|
0.00001
|
NM_000069.3(CACNA1S):c.1583G>T (p.Arg528Leu)
|
rs80338777
|
0.00001
|
NM_000092.5(COL4A4):c.1118G>A (p.Gly373Glu)
|
rs755649235
|
0.00001
|
NM_000092.5(COL4A4):c.1360G>A (p.Gly454Arg)
|
rs1319908269
|
0.00001
|
NM_000157.4(GBA1):c.1102C>T (p.Arg368Cys)
|
rs374306700
|
0.00001
|
NM_000158.4(GBE1):c.1229T>G (p.Ile410Arg)
|
rs771405370
|
0.00001
|
NM_000238.4(KCNH2):c.1474C>T (p.His492Tyr)
|
rs199472910
|
0.00001
|
NM_000249.4(MLH1):c.1517T>C (p.Val506Ala)
|
rs63749909
|
0.00001
|
NM_000258.3(MYL3):c.427G>A (p.Glu143Lys)
|
rs104893750
|
0.00001
|
NM_000260.4(MYO7A):c.2558G>A (p.Arg853His)
|
rs111033437
|
0.00001
|
NM_000334.4(SCN4A):c.1333G>C (p.Val445Leu)
|
rs121908552
|
0.00001
|
NM_000352.6(ABCC8):c.3788C>T (p.Ala1263Val)
|
rs772094360
|
0.00001
|
NM_000359.3(TGM1):c.2290C>T (p.Arg764Cys)
|
rs201853046
|
0.00001
|
NM_000439.5(PCSK1):c.1625A>G (p.Asp542Gly)
|
rs1327701164
|
0.00001
|
NM_000443.4(ABCB4):c.2165G>C (p.Gly722Ala)
|
rs779885518
|
0.00001
|
NM_000478.6(ALPL):c.1444C>A (p.His482Asn)
|
rs780857373
|
0.00001
|
NM_000487.6(ARSA):c.370G>A (p.Gly124Ser)
|
rs74315461
|
0.00001
|
NM_000497.4(CYP11B1):c.422G>A (p.Arg141Gln)
|
rs267601810
|
0.00001
|
NM_000527.5(LDLR):c.1133A>C (p.Gln378Pro)
|
rs730882098
|
0.00001
|
NM_000527.5(LDLR):c.299A>T (p.Asp100Val)
|
rs879254460
|
0.00001
|
NM_000535.7(PMS2):c.2249G>A (p.Gly750Asp)
|
rs587779337
|
0.00001
|
NM_000540.3(RYR1):c.131G>A (p.Arg44His)
|
rs139161723
|
0.00001
|
NM_000540.3(RYR1):c.13673G>A (p.Arg4558Gln)
|
rs118192130
|
0.00001
|
NM_000540.3(RYR1):c.178G>A (p.Asp60Asn)
|
rs118192160
|
0.00001
|
NM_000540.3(RYR1):c.7076G>A (p.Arg2359Gln)
|
rs1387126664
|
0.00001
|
NM_000540.3(RYR1):c.9605C>T (p.Pro3202Leu)
|
rs754002399
|
0.00001
|
NM_000540.3(RYR1):c.9623C>T (p.Pro3208Leu)
|
rs758210285
|
0.00001
|
NM_000543.5(SMPD1):c.1427G>A (p.Arg476Gln)
|
rs763566905
|
0.00001
|
NM_000545.8(HNF1A):c.626C>A (p.Ala209Glu)
|
rs1286294151
|
0.00001
|
NM_000784.4(CYP27A1):c.2T>C (p.Met1Thr)
|
rs759003992
|
0.00001
|
NM_001009944.3(PKD1):c.6643C>T (p.Arg2215Trp)
|
rs752793757
|
0.00001
|
NM_001048174.2(MUTYH):c.1102+1G>A
|
rs587781337
|
0.00001
|
NM_001077365.2(POMT1):c.697_699del (p.Asn233del)
|
rs761863400
|
0.00001
|
NM_001182.5(ALDH7A1):c.575C>T (p.Thr192Met)
|
rs376917645
|
0.00001
|
NM_001194998.2(CEP152):c.88-2A>G
|
rs537376932
|
0.00001
|
NM_001199107.2(TBC1D24):c.920A>G (p.Asn307Ser)
|
rs761934676
|
0.00001
|
NM_003280.3(TNNC1):c.430A>G (p.Asn144Asp)
|
rs730881061
|
0.00001
|
NM_003361.4(UMOD):c.317G>T (p.Cys106Phe)
|
rs398123697
|
0.00001
|
NM_004153.4(ORC1):c.266T>C (p.Phe89Ser)
|
rs387906827
|
0.00001
|
NM_006767.4(LZTR1):c.365C>T (p.Ser122Leu)
|
rs587777177
|
0.00001
|
NM_006767.4(LZTR1):c.848G>A (p.Arg283Gln)
|
rs1223430276
|
0.00001
|
NM_006907.4(PYCR1):c.797+2T>C
|
rs768235246
|
0.00001
|
NM_007194.4(CHEK2):c.592+3A>T
|
rs587782849
|
0.00001
|
NM_007294.4(BRCA1):c.5096G>A (p.Arg1699Gln)
|
rs41293459
|
0.00001
|
NM_007294.4(BRCA1):c.5407-25T>A
|
rs758780152
|
0.00001
|
NM_014625.4(NPHS2):c.416T>G (p.Leu139Arg)
|
rs1345260812
|
0.00001
|
NM_015631.6(TCTN3):c.627+1G>A
|
rs1566074908
|
0.00001
|
NM_015909.4(NBAS):c.1549C>T (p.Arg517Cys)
|
rs370526257
|
0.00001
|
NM_021008.4(DEAF1):c.671G>A (p.Arg224Gln)
|
rs1415420832
|
0.00001
|
NM_138694.4(PKHD1):c.23T>C (p.Leu8Pro)
|
rs750588859
|
0.00001
|
NM_174936.4(PCSK9):c.103G>T (p.Asp35Tyr)
|
rs764603059
|
0.00001
|
NM_000016.6(ACADM):c.683C>A (p.Thr228Asn)
|
rs149678400
|
|
NM_000033.4(ABCD1):c.1966T>C (p.Ser656Pro)
|
rs2148399307
|
|
NM_000033.4(ABCD1):c.839G>A (p.Arg280His)
|
rs781904944
|
|
NM_000039.3(APOA1):c.548T>C (p.Leu183Pro)
|
|
|
NM_000059.4(BRCA2):c.8059G>T (p.Val2687Phe)
|
rs80359044
|
|
NM_000059.4(BRCA2):c.9699_9702del (p.Cys3233fs)
|
rs80359775
|
|
NM_000088.4(COL1A1):c.3823T>C (p.Trp1275Arg)
|
rs1555571769
|
|
NM_000091.5(COL4A3):c.1364G>T (p.Gly455Val)
|
|
|
NM_000091.5(COL4A3):c.2567G>T (p.Gly856Val)
|
|
|
NM_000091.5(COL4A3):c.2585G>C (p.Gly862Ala)
|
|
|
NM_000091.5(COL4A3):c.3312AAGTCCTGG[1] (p.1105SPG[1])
|
rs756539994
|
|
NM_000091.5(COL4A3):c.3546_3548dup (p.Gly1183dup)
|
rs1175052474
|
|
NM_000091.5(COL4A3):c.997G>A (p.Gly333Arg)
|
rs761819520
|
|
NM_000092.5(COL4A4):c.1831G>A (p.Gly611Ser)
|
rs758860164
|
|
NM_000092.5(COL4A4):c.3577G>T (p.Gly1193Cys)
|
rs1158350974
|
|
NM_000092.5(COL4A4):c.4315G>A (p.Gly1439Ser)
|
|
|
NM_000092.5(COL4A4):c.870G>A (p.Lys290=)
|
rs2060620860
|
|
NM_000138.5(FBN1):c.4172G>T (p.Cys1391Phe)
|
rs1352478541
|
|
NM_000143.4(FH):c.1431_1433dup (p.Lys477dup)
|
rs367543046
|
|
NM_000144.5(FXN):c.493C>T (p.Arg165Cys)
|
rs138034837
|
|
NM_000162.5(GCK):c.1151C>T (p.Ala384Val)
|
rs1583591747
|
|
NM_000162.5(GCK):c.1255T>C (p.Phe419Leu)
|
rs1554334478
|
|
NM_000162.5(GCK):c.566T>C (p.Ile189Thr)
|
rs1554335441
|
|
NM_000166.6(GJB1):c.136G>A (p.Asp46Asn)
|
|
|
NM_000169.3(GLA):c.639+4A>T
|
rs398123215
|
|
NM_000173.7(GP1BA):c.171C>A (p.Asn57Lys)
|
rs1597638398
|
|
NM_000203.5(IDUA):c.298A>G (p.Arg100Gly)
|
|
|
NM_000249.4(MLH1):c.1616C>A (p.Ala539Asp)
|
rs267607843
|
|
NM_000256.3(MYBPC3):c.709T>C (p.Tyr237His)
|
rs730880624
|
|
NM_000257.4(MYH7):c.2129C>T (p.Pro710Leu)
|
rs727504272
|
|
NM_000298.6(PKLR):c.1174G>A (p.Ala392Thr)
|
rs1403323591
|
|
NM_000335.5(SCN5A):c.2989G>T (p.Ala997Ser)
|
rs137854609
|
|
NM_000350.3(ABCA4):c.4128G>A (p.Gln1376=)
|
rs1064797113
|
|
NM_000350.3(ABCA4):c.769-784C>T
|
|
|
NM_000372.5(TYR):c.1037-3C>G
|
|
|
NM_000382.3(ALDH3A2):c.1339A>G (p.Lys447Glu)
|
|
|
NM_000384.3(APOB):c.13028_13029del (p.Tyr4343fs)
|
rs760832994
|
|
NM_000400.4(ERCC2):c.1847G>A (p.Arg616Gln)
|
rs376556895
|
|
NM_000435.3(NOTCH3):c.1759C>T (p.Arg587Cys)
|
rs754554486
|
|
NM_000435.3(NOTCH3):c.208G>T (p.Gly70Cys)
|
|
|
NM_000448.3(RAG1):c.2327G>A (p.Arg776Gln)
|
|
|
NM_000478.6(ALPL):c.1034C>T (p.Ala345Val)
|
rs1644719715
|
|
NM_000478.6(ALPL):c.416G>A (p.Cys139Tyr)
|
|
|
NM_000516.7(GNAS):c.575C>T (p.Pro192Leu)
|
rs2091273769
|
|
NM_000527.5(LDLR):c.1721G>A (p.Arg574His)
|
|
|
NM_000527.5(LDLR):c.2407_2424del (p.Cys803_Leu808del)
|
rs879255201
|
|
NM_000532.5(PCCB):c.183+3G>C
|
rs398123461
|
|
NM_000535.7(PMS2):c.2186_2187del (p.Leu729fs)
|
rs587779335
|
|
NM_000540.3(RYR1):c.11958C>G (p.Asp3986Glu)
|
rs193922842
|
|
NM_000540.3(RYR1):c.130C>T (p.Arg44Cys)
|
rs193922748
|
|
NM_000540.3(RYR1):c.14416A>G (p.Asn4806Asp)
|
rs886039586
|
|
NM_000540.3(RYR1):c.14555A>G (p.Tyr4852Cys)
|
rs886042826
|
|
NM_000540.3(RYR1):c.14761TTC[3] (p.Phe4924del)
|
rs1064794572
|
|
NM_000540.3(RYR1):c.14801A>G (p.Gln4934Arg)
|
rs1568611775
|
|
NM_000540.3(RYR1):c.14815G>A (p.Asp4939Asn)
|
rs760010175
|
|
NM_000540.3(RYR1):c.14817C>G (p.Asp4939Glu)
|
rs193922895
|
|
NM_000540.3(RYR1):c.958G>A (p.Glu320Lys)
|
rs1568440962
|
|
NM_000543.5(SMPD1):c.1547A>G (p.His516Arg)
|
rs754979734
|
|
NM_000550.3(TYRP1):c.919G>A (p.Glu307Lys)
|
|
|
NM_000552.5(VWF):c.3797C>A (p.Pro1266Gln)
|
rs61749370
|
|
NM_000552.5(VWF):c.3797C>T (p.Pro1266Leu)
|
rs61749370
|
|
NM_000719.7(CACNA1C):c.15_16del (p.Thr6fs)
|
rs786205782
|
|
NM_000784.4(CYP27A1):c.1436G>A (p.Arg479His)
|
rs199638075
|
|
NM_000977.4(RPL13):c.548G>A (p.Arg183His)
|
rs1597676540
|
|
NM_001009944.3(PKD1):c.10850T>C (p.Leu3617Pro)
|
rs1567158067
|
|
NM_001009944.3(PKD1):c.10958C>T (p.Ala3653Val)
|
rs1483214870
|
|
NM_001009944.3(PKD1):c.2180T>G (p.Leu727Arg)
|
rs1616940
|
|
NM_001009944.3(PKD1):c.3542A>G (p.Tyr1181Cys)
|
rs1458516705
|
|
NM_001009944.3(PKD1):c.6827T>C (p.Leu2276Pro)
|
rs1567191044
|
|
NM_001011658.4(TRAPPC2):c.239-10_239-7del
|
rs2146773091
|
|
NM_001012339.3(DNAJC21):c.434A>G (p.Asp145Gly)
|
|
|
NM_001025356.3(ANO6):c.2339_2342del (p.Leu780fs)
|
|
|
NM_001032386.2(SUOX):c.352C>T (p.His118Tyr)
|
|
|
NM_001034853.2(RPGR):c.299T>C (p.Leu100Pro)
|
rs1064797366
|
|
NM_001040113.2(MYH11):c.5819del (p.Pro1940fs)
|
rs747392139
|
|
NM_001080517.3(SETD5):c.1782+1G>T
|
|
|
NM_001114753.3(ENG):c.1586G>A (p.Arg529His)
|
rs863223538
|
|
NM_001127222.2(CACNA1A):c.5702G>A (p.Arg1901His)
|
rs2144595024
|
|
NM_001165963.4(SCN1A):c.4338+5G>A
|
rs796053011
|
|
NM_001202.6(BMP4):c.928C>T (p.Arg310Cys)
|
rs770777693
|
|
NM_001267550.2(TTN):c.15691C>T (p.Gln5231Ter)
|
|
|
NM_001267550.2(TTN):c.40723+1del
|
rs876658058
|
|
NM_001267550.2(TTN):c.46236C>A (p.Cys15412Ter)
|
rs368200299
|
|
NM_001267550.2(TTN):c.6820C>T (p.Gln2274Ter)
|
rs145649088
|
|
NM_001267550.2(TTN):c.7642C>T (p.Gln2548Ter)
|
rs727503688
|
|
NM_001320.7(CSNK2B):c.94G>A (p.Asp32Asn)
|
rs1554169984
|
|
NM_001349338.3(FOXP1):c.1438G>A (p.Glu480Lys)
|
|
|
NM_001354604.2(MITF):c.1072G>A (p.Val358Met)
|
rs1271000541
|
|
NM_001355436.2(SPTB):c.647G>A (p.Arg216Gln)
|
rs1555371769
|
|
NM_001360.3(DHCR7):c.1406G>C (p.Arg469Pro)
|
rs201150384
|
|
NM_001363711.2(DUOX2):c.2654G>T (p.Arg885Leu)
|
rs181461079
|
|
NM_001370259.2(MEN1):c.1667AGA[1] (p.Lys557del)
|
rs794728661
|
|
NM_001376.5(DYNC1H1):c.12760G>A (p.Gly4254Arg)
|
|
|
NM_001378477.3(NYX):c.920A>G (p.Asn307Ser)
|
rs62637035
|
|
NM_001379403.1(WDR26):c.1196G>A (p.Arg399Gln)
|
rs1673967254
|
|
NM_001399.5(EDA):c.707-13T>G
|
rs2147511678
|
|
NM_001614.5(ACTG1):c.998C>G (p.Pro333Arg)
|
|
|
NM_001735.3(C5):c.957CAA[1] (p.Asn320del)
|
rs772444483
|
|
NM_001830.4(CLCN4):c.2167C>T (p.Arg723Trp)
|
rs1924842665
|
|
NM_001844.5(COL2A1):c.1996-9G>A
|
rs2136555221
|
|
NM_001848.3(COL6A1):c.1425del (p.Gly476fs)
|
rs878854398
|
|
NM_001854.4(COL11A1):c.2522G>T (p.Gly841Val)
|
rs1663311706
|
|
NM_001930.4(DHPS):c.912_917del (p.Tyr305_Ile306del)
|
rs1568317152
|
|
NM_002016.2(FLG):c.2282_2285del (p.Ser761fs)
|
rs558269137
|
|
NM_002303.6(LEPR):c.2642G>T (p.Cys881Phe)
|
rs992720162
|
|
NM_002470.4(MYH3):c.1123G>A (p.Glu375Lys)
|
rs121913621
|
|
NM_002500.5(NEUROD1):c.616dup (p.His206fs)
|
rs387906384
|
|
NM_002693.3(POLG):c.2265+1G>A
|
|
|
NM_002693.3(POLG):c.2437GTG[1] (p.Val814del)
|
rs1596353095
|
|
NM_002693.3(POLG):c.3573G>T (p.Lys1191Asn)
|
rs1085307741
|
|
NM_002834.5(PTPN11):c.1382C>G (p.Ala461Gly)
|
rs397509344
|
|
NM_002834.5(PTPN11):c.329A>G (p.Glu110Gly)
|
rs397507519
|
|
NM_002834.5(PTPN11):c.853T>G (p.Phe285Val)
|
rs397507531
|
|
NM_002875.5(RAD51):c.877G>A (p.Ala293Thr)
|
rs1057519413
|
|
NM_002890.3(RASA1):c.2708G>A (p.Arg903Gln)
|
rs2112509032
|
|
NM_002972.4(SBF1):c.5394_5395del (p.Ala1799fs)
|
rs1234122324
|
|
NM_003072.5(SMARCA4):c.2896C>T (p.Arg966Trp)
|
rs1227826852
|
|
NM_003119.4(SPG7):c.1904C>T (p.Ser635Leu)
|
rs864622507
|
|
NM_003128.3(SPTBN1):c.3007C>T (p.Arg1003Trp)
|
rs2103938644
|
|
NM_003242.6(TGFBR2):c.1591G>A (p.Ala531Thr)
|
rs727503477
|
|
NM_003590.5(CUL3):c.2281C>T (p.Arg761Cys)
|
|
|
NM_003718.5(CDK13):c.2668C>T (p.Arg890Ter)
|
|
|
NM_003742.4(ABCB11):c.2086C>T (p.Arg696Trp)
|
|
|
NM_003742.4(ABCB11):c.677C>T (p.Ser226Leu)
|
rs1382100120
|
|
NM_004069.6(AP2S1):c.28C>T (p.Arg10Trp)
|
rs1064795235
|
|
NM_004463.3(FGD1):c.1556G>A (p.Arg519His)
|
rs398124157
|
|
NM_004817.4(TJP2):c.1202A>G (p.Glu401Gly)
|
rs1057515614
|
|
NM_005159.5(ACTC1):c.554G>A (p.Arg185Gln)
|
|
|
NM_005159.5(ACTC1):c.664G>A (p.Ala222Thr)
|
rs1555418793
|
|
NM_006005.3(WFS1):c.911_914dup (p.Asp305_Met306insTer)
|
rs863224264
|
|
NM_006218.4(PIK3CA):c.1252G>A (p.Glu418Lys)
|
rs397517199
|
|
NM_006231.4(POLE):c.1487del (p.Gly496fs)
|
rs1555228358
|
|
NM_006231.4(POLE):c.4551+2_4551+3del
|
rs1251654299
|
|
NM_006767.4(LZTR1):c.1234C>T (p.Arg412Cys)
|
rs747430075
|
|
NM_006941.4(SOX10):c.323T>C (p.Met108Thr)
|
rs1932464492
|
|
NM_007118.4(TRIO):c.3233G>A (p.Arg1078Gln)
|
rs1745369142
|
|
NM_007327.4(GRIN1):c.2417C>T (p.Ala806Val)
|
rs1554770589
|
|
NM_014049.5(ACAD9):c.1622A>G (p.Tyr541Cys)
|
|
|
NM_015202.5(KATNIP):c.2788C>T (p.Gln930Ter)
|
|
|
NM_015634.4(KIFBP):c.1516dup (p.Ile506fs)
|
rs781469363
|
|
NM_017841.4(SDHAF2):c.355dup (p.Tyr119fs)
|
rs1456129845
|
|
NM_021871.4(FGA):c.1718G>T (p.Arg573Leu)
|
rs78506343
|
|
NM_022095.4(ZNF335):c.2442+1G>A
|
|
|
NM_022773.4(LMF1):c.383T>A (p.Leu128Ter)
|
rs2072617381
|
|
NM_023110.3(FGFR1):c.232C>T (p.Arg78Cys)
|
rs1554570706
|
|
NM_030773.4(TUBB1):c.779T>C (p.Phe260Ser)
|
rs1057517996
|
|
NM_030773.4(TUBB1):c.844C>T (p.Arg282Ter)
|
|
|
NM_032444.4(SLX4):c.4823C>G (p.Ser1608Ter)
|
rs200628199
|
|
NM_033380.3(COL4A5):c.2767+4A>G
|
|
|
NM_052876.4(NACC1):c.71G>A (p.Arg24Gln)
|
|
|
NM_080680.3(COL11A2):c.1119+1G>C
|
rs367706373
|
|
NM_133497.4(KCNV2):c.1015G>A (p.Asp339Asn)
|
|
|
NM_133497.4(KCNV2):c.1381G>T (p.Gly461Ter)
|
rs149648640
|
|
NM_138694.4(PKHD1):c.7264T>G (p.Cys2422Gly)
|
rs201881567
|
|
NM_138694.4(PKHD1):c.847T>C (p.Phe283Leu)
|
rs375145340
|
|
NM_138694.4(PKHD1):c.9308G>A (p.Gly3103Asp)
|
|
|
NM_138694.4(PKHD1):c.9719G>T (p.Arg3240Leu)
|
rs146649803
|
|
NM_144773.4(PROKR2):c.254G>A (p.Arg85His)
|
rs74315418
|
|
NM_152703.5(SAMD9L):c.1877C>T (p.Ser626Leu)
|
rs1554341671
|
|
NM_172364.5(CACNA2D4):c.1564C>T (p.Arg522Ter)
|
|
|
NM_175914.5(HNF4A):c.869G>A (p.Arg290His)
|
rs1191912908
|
|
NM_194248.3(OTOF):c.1469C>G (p.Pro490Arg)
|
rs80356585
|
|
NM_198904.4(GABRG2):c.893A>C (p.Lys298Thr)
|
rs1764627724
|
|
NM_199355.4(ADAMTS18):c.719A>T (p.Glu240Val)
|
|
|
NM_201253.3(CRB1):c.498_506del (p.Ile167_Gly169del)
|
rs398124615
|
|
NM_203486.3(DLL3):c.529_535del (p.Arg177fs)
|
rs1452482256
|
|
NM_206933.4(USH2A):c.5012G>A (p.Gly1671Asp)
|
rs727505116
|
|