ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Labcorp Genetics (formerly Invitae), Labcorp and "uncertain significance" from any submitter

Minimum review status of the submission from Labcorp Genetics (formerly Invitae), Labcorp: Collection method of the submission from Labcorp Genetics (formerly Invitae), Labcorp:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 1778
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HGVS dbSNP gnomAD frequency
NM_033100.4(CDHR1):c.783G>A (p.Pro261=) rs147346345 0.00446
NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg) rs34557412 0.00391
NM_014270.5(SLC7A9):c.544G>A (p.Ala182Thr) rs79389353 0.00239
NM_001292063.2(OTOG):c.7693+1G>A rs548496846 0.00088
NM_022132.5(MCCC2):c.1433C>G (p.Ala478Gly) rs35068278 0.00080
NM_000271.5(NPC1):c.3011C>T (p.Ser1004Leu) rs150334966 0.00066
NM_198076.6(COX20):c.157+3G>C rs367956888 0.00066
NM_001384732.1(CPLANE1):c.8462-1G>C rs151279194 0.00060
NM_000518.4(HBB):c.208G>A (p.Gly70Ser) rs33947415 0.00058
NM_000069.3(CACNA1S):c.5049-2A>G rs148989517 0.00056
NM_000030.3(AGXT):c.1048G>A (p.Gly350Ser) rs199610919 0.00046
NM_001142800.2(EYS):c.1852G>A (p.Gly618Ser) rs142450703 0.00043
NM_014049.5(ACAD9):c.1405C>T (p.Arg469Trp) rs139145143 0.00042
NM_020320.5(RARS2):c.773G>A (p.Arg258His) rs145297855 0.00042
NM_020117.11(LARS1):c.1292T>A (p.Val431Asp) rs150429680 0.00041
NM_022835.3(PLEKHG2):c.610C>T (p.Arg204Trp) rs201201843 0.00038
NM_002303.6(LEPR):c.1835G>A (p.Arg612His) rs144159890 0.00036
NM_203447.4(DOCK8):c.54-1G>T rs192864327 0.00036
NM_001041.4(SI):c.4099A>G (p.Arg1367Gly) rs143388292 0.00033
NM_001089.3(ABCA3):c.418A>C (p.Asn140His) rs45447801 0.00032
NR_033294.2(SNORD118):n.24C>T rs368022715 0.00032
NM_000492.4(CFTR):c.3209G>A (p.Arg1070Gln) rs78769542 0.00030
NM_000158.4(GBE1):c.986A>G (p.Tyr329Cys) rs80338671 0.00029
NM_003560.4(PLA2G6):c.956C>T (p.Thr319Met) rs149653983 0.00029
NM_206933.4(USH2A):c.13133C>T (p.Pro4378Leu) rs570277510 0.00027
NM_003060.4(SLC22A5):c.641C>T (p.Ala214Val) rs386134199 0.00026
NM_001102564.3(IFT43):c.296-5602T>C rs141114765 0.00025
NM_006383.4(CIB2):c.556C>T (p.Arg186Trp) rs370359511 0.00024
NM_016239.4(MYO15A):c.5978G>A (p.Arg1993Gln) rs117071200 0.00023
NM_000350.3(ABCA4):c.5984A>T (p.Asp1995Val) rs141489669 0.00022
NM_144666.3(DNHD1):c.1837+2T>C rs180925806 0.00022
NM_000152.5(GAA):c.922C>T (p.His308Tyr) rs112025212 0.00021
NM_001061.7(TBXAS1):c.1235G>A (p.Arg412Gln) rs199422117 0.00021
NM_133459.4(CCBE1):c.472C>T (p.Arg158Cys) rs121908253 0.00021
NM_145200.5(CABP4):c.370C>T (p.Arg124Cys) rs121917828 0.00021
NM_005033.3(EXOSC9):c.522+1G>A rs151134983 0.00020
NM_000350.3(ABCA4):c.3608G>A (p.Gly1203Glu) rs146786552 0.00019
NM_000443.4(ABCB4):c.2784-12T>C rs201498350 0.00019
NM_020632.3(ATP6V0A4):c.1029+5G>A rs147476317 0.00019
NM_138694.4(PKHD1):c.9662C>T (p.Pro3221Leu) rs145141656 0.00018
NM_000492.4(CFTR):c.2855T>C (p.Met952Thr) rs142773283 0.00017
NM_001384474.1(LOXHD1):c.1730T>G (p.Leu577Arg) rs727503147 0.00017
NM_016335.6(PRODH):c.930-1G>C rs751149776 0.00017
NM_017547.4(FOXRED1):c.920G>A (p.Gly307Glu) rs145888229 0.00016
NM_006005.3(WFS1):c.2122C>T (p.Arg708Cys) rs200099217 0.00015
NM_007194.4(CHEK2):c.190G>A (p.Glu64Lys) rs141568342 0.00015
NM_014140.4(SMARCAL1):c.2114C>T (p.Thr705Ile) rs200644381 0.00015
NM_016247.4(IMPG2):c.745C>T (p.Leu249Phe) rs376443291 0.00015
NM_000053.4(ATP7B):c.3583G>A (p.Ala1195Thr) rs202218969 0.00014
NM_000540.3(RYR1):c.2275A>G (p.Asn759Asp) rs147320363 0.00014
NM_001127178.3(PIGG):c.2552A>C (p.Gln851Pro) rs150802299 0.00014
NM_001369.3(DNAH5):c.13775G>A (p.Arg4592Gln) rs367709427 0.00014
NM_016955.4(SEPSECS):c.548-1G>A rs200041461 0.00014
NM_000350.3(ABCA4):c.2673A>T (p.Glu891Asp) rs766079334 0.00013
NM_000443.4(ABCB4):c.1529A>G (p.Asn510Ser) rs375315619 0.00013
NM_001134831.2(AHI1):c.3196C>T (p.Arg1066Ter) rs780163791 0.00013
NM_001369.3(DNAH5):c.4361G>A (p.Arg1454Gln) rs542708170 0.00013
NM_001379081.2(FREM1):c.3971T>G (p.Leu1324Arg) rs281875281 0.00013
NM_001379180.1(ESRRB):c.1360G>C (p.Val454Leu) rs546495818 0.00013
NM_001384474.1(LOXHD1):c.5390A>G (p.Lys1797Arg) rs368286192 0.00013
NM_001737.5(C9):c.355T>G (p.Cys119Gly) rs121909593 0.00013
NM_001851.6(COL9A1):c.876+2T>A rs149830493 0.00013
NM_002480.3(PPP1R12A):c.1823+2T>C rs61756421 0.00013
NM_018136.5(ASPM):c.9294+2T>C rs199503603 0.00013
NM_194248.3(OTOF):c.5332G>T (p.Val1778Phe) rs111033330 0.00013
NM_001330691.3(CEP78):c.491G>A (p.Gly164Asp) rs200752089 0.00012
NM_015506.3(MMACHC):c.364C>A (p.His122Asn) rs372918203 0.00012
NM_000030.3(AGXT):c.949C>T (p.Arg317Trp) rs774030578 0.00011
NM_000195.5(HPS1):c.1846G>A (p.Glu616Lys) rs775570414 0.00011
NM_000275.3(OCA2):c.1901T>A (p.Ile634Asn) rs200692258 0.00011
NM_000487.6(ARSA):c.434G>A (p.Arg145Gln) rs551548107 0.00011
NM_000492.4(CFTR):c.3274T>C (p.Tyr1092His) rs376968326 0.00011
NM_000494.4(COL17A1):c.415+2T>G rs147734242 0.00011
NM_000539.3(RHO):c.578C>T (p.Thr193Met) rs373974298 0.00011
NM_001005242.3(PKP2):c.1930T>C (p.Ser644Pro) rs144601090 0.00011
NM_001363711.2(DUOX2):c.2922-14_2925del rs760031457 0.00011
NM_001378789.1(CERS3):c.1027G>A (p.Glu343Lys) rs145849861 0.00011
NM_006017.3(PROM1):c.2490-2A>G rs375813885 0.00011
NM_022041.4(GAN):c.944C>T (p.Pro315Leu) rs144486241 0.00011
NM_078470.6(COX15):c.396-3C>G rs200910834 0.00011
NM_000098.3(CPT2):c.1436A>T (p.Tyr479Phe) rs749895856 0.00010
NM_000159.4(GCDH):c.510G>C (p.Lys170Asn) rs200785120 0.00010
NM_001360.3(DHCR7):c.1349G>A (p.Arg450His) rs542266962 0.00010
NM_002225.5(IVD):c.707C>T (p.Thr236Ile) rs146861563 0.00010
NM_016111.4(TELO2):c.2296G>A (p.Val766Met) rs371675497 0.00010
NM_000138.5(FBN1):c.7660C>T (p.Arg2554Trp) rs369294972 0.00009
NM_000260.4(MYO7A):c.1970G>A (p.Arg657Gln) rs375457812 0.00009
NM_000271.5(NPC1):c.3559G>A (p.Ala1187Thr) rs762517273 0.00009
NM_001083961.2(WDR62):c.1043+3A>G rs587784541 0.00009
NM_001253852.3(AP4B1):c.577G>A (p.Val193Ile) rs376478015 0.00009
NM_001369.3(DNAH5):c.8828G>A (p.Arg2943His) rs184758570 0.00009
NM_001378609.3(OTOGL):c.236-2A>G rs766564988 0.00009
NM_003060.4(SLC22A5):c.728A>C (p.Tyr243Ser) rs1321621475 0.00009
NM_015072.5(TTLL5):c.1513A>G (p.Met505Val) rs781316021 0.00009
NM_016111.4(TELO2):c.2312T>C (p.Leu771Ser) rs201230315 0.00009
NM_020117.11(LARS1):c.2770-2A>G rs139456270 0.00009
NM_138694.4(PKHD1):c.5498C>T (p.Ser1833Leu) rs201105958 0.00009
NM_145886.4(PIDD1):c.2042-2A>G rs199752248 0.00009
NM_173076.3(ABCA12):c.196G>A (p.Gly66Arg) rs201526979 0.00009
NM_000243.3(MEFV):c.1958G>A (p.Arg653His) rs104895085 0.00008
NM_000350.3(ABCA4):c.4909G>A (p.Ala1637Thr) rs61754056 0.00008
NM_000441.2(SLC26A4):c.2029C>T (p.Arg677Trp) rs397516426 0.00008
NM_001048174.2(MUTYH):c.1333G>A (p.Ala445Thr) rs192816572 0.00008
NM_001256317.3(TMPRSS3):c.1157C>T (p.Ala386Val) rs201172277 0.00008
NM_005609.4(PYGM):c.1363G>A (p.Gly455Ser) rs201042910 0.00008
NM_005912.3(MC4R):c.380C>T (p.Ser127Leu) rs13447331 0.00008
NM_006662.3(SRCAP):c.1135-2A>G rs149689808 0.00008
NM_000335.5(SCN5A):c.4975A>G (p.Ile1659Val) rs199473625 0.00007
NM_000352.6(ABCC8):c.343A>G (p.Met115Val) rs146695489 0.00007
NM_000527.5(LDLR):c.760C>G (p.Gln254Glu) rs759109699 0.00007
NM_001378778.1(MPDZ):c.394G>A (p.Gly132Ser) rs201101621 0.00007
NM_002855.5(NECTIN1):c.851+1G>A rs889179187 0.00007
NM_003060.4(SLC22A5):c.761G>A (p.Arg254Gln) rs200699819 0.00007
NM_004646.4(NPHS1):c.1049C>T (p.Ser350Phe) rs570069789 0.00007
NM_015559.3(SETBP1):c.487-1G>A rs147805077 0.00007
NM_144573.4(NEXN):c.1053+1G>A rs397517843 0.00007
NM_144773.4(PROKR2):c.337T>C (p.Tyr113His) rs202203360 0.00007
NM_000017.4(ACADS):c.417G>C (p.Trp139Cys) rs149107232 0.00006
NM_000094.4(COL7A1):c.6005G>A (p.Arg2002His) rs768326843 0.00006
NM_000138.5(FBN1):c.7999G>A (p.Glu2667Lys) rs149062442 0.00006
NM_000255.4(MMUT):c.1942G>A (p.Gly648Ser) rs751804284 0.00006
NM_000260.4(MYO7A):c.5618G>A (p.Arg1873Gln) rs397516322 0.00006
NM_000404.4(GLB1):c.1256G>A (p.Arg419Gln) rs780634117 0.00006
NM_000441.2(SLC26A4):c.1454C>T (p.Thr485Met) rs370029782 0.00006
NM_000443.4(ABCB4):c.140G>A (p.Arg47Gln) rs372685632 0.00006
NM_000540.3(RYR1):c.2956C>T (p.Arg986Cys) rs150993059 0.00006
NM_000540.3(RYR1):c.9758T>C (p.Ile3253Thr) rs375626634 0.00006
NM_000550.3(TYRP1):c.415G>A (p.Glu139Lys) rs201789348 0.00006
NM_001048174.2(MUTYH):c.461G>T (p.Arg154Leu) rs143353451 0.00006
NM_001061.7(TBXAS1):c.1417G>T (p.Gly473Trp) rs149988492 0.00006
NM_001360.3(DHCR7):c.89G>C (p.Gly30Ala) rs200334114 0.00006
NM_001360.3(DHCR7):c.92G>A (p.Arg31His) rs370307688 0.00006
NM_001414.4(EIF2B1):c.252+1G>A rs113994006 0.00006
NM_016239.4(MYO15A):c.4769A>G (p.Tyr1590Cys) rs191828237 0.00006
NM_016589.4(TIMMDC1):c.410G>A (p.Arg137His) rs142096113 0.00006
NM_018122.5(DARS2):c.396+2T>G rs759123043 0.00006
NM_025137.4(SPG11):c.6157G>A (p.Val2053Met) rs149003934 0.00006
NM_052845.4(MMAB):c.521C>T (p.Ser174Leu) rs140881518 0.00006
NM_138413.4(HOGA1):c.908G>A (p.Arg303His) rs761150081 0.00006
NM_138691.3(TMC1):c.1114G>A (p.Val372Met) rs367924428 0.00006
NM_144991.3(TSPEAR):c.1423G>A (p.Gly475Ser) rs782056388 0.00006
NM_152783.5(D2HGDH):c.1421C>T (p.Ala474Val) rs369324431 0.00006
NM_177924.5(ASAH1):c.997C>G (p.Arg333Gly) rs543697946 0.00006
NM_000017.4(ACADS):c.1157G>A (p.Arg386His) rs766183395 0.00005
NM_000017.4(ACADS):c.575C>T (p.Ala192Val) rs28940874 0.00005
NM_000046.5(ARSB):c.1450A>G (p.Arg484Gly) rs201101343 0.00005
NM_000092.5(COL4A4):c.1334G>C (p.Gly445Ala) rs548019779 0.00005
NM_000152.5(GAA):c.2456G>A (p.Arg819Gln) rs374687883 0.00005
NM_000256.3(MYBPC3):c.1789C>T (p.Arg597Trp) rs201596087 0.00005
NM_000260.4(MYO7A):c.4040G>A (p.Arg1347His) rs756324342 0.00005
NM_000275.3(OCA2):c.2080G>A (p.Ala694Thr) rs745803719 0.00005
NM_000303.3(PMM2):c.91T>C (p.Phe31Leu) rs749720760 0.00005
NM_000335.5(SCN5A):c.1577G>A (p.Arg526His) rs45627438 0.00005
NM_000350.3(ABCA4):c.1715G>A (p.Arg572Gln) rs61748559 0.00005
NM_000527.5(LDLR):c.2282C>T (p.Thr761Met) rs138477254 0.00005
NM_000527.5(LDLR):c.940G>A (p.Gly314Arg) rs72658858 0.00005
NM_000532.5(PCCB):c.1127G>A (p.Arg376His) rs142982097 0.00005
NM_001276345.2(TNNT2):c.863G>A (p.Arg288His) rs397516484 0.00005
NM_001370658.1(BTD):c.383G>A (p.Arg128His) rs367902696 0.00005
NM_001999.4(FBN2):c.5800+5G>A rs375487064 0.00005
NM_003244.4(TGIF1):c.83C>G (p.Ser28Cys) rs121909066 0.00005
NM_003504.5(CDC45):c.1660C>T (p.Arg554Trp) rs778665661 0.00005
NM_003560.4(PLA2G6):c.1495G>A (p.Ala499Thr) rs141045127 0.00005
NM_005548.3(KARS1):c.85G>C (p.Ala29Pro) rs369238198 0.00005
NM_006922.4(SCN3A):c.295A>G (p.Ile99Val) rs200538599 0.00005
NM_007103.4(NDUFV1):c.119G>A (p.Arg40Gln) rs141502688 0.00005
NM_020247.5(COQ8A):c.1000C>T (p.Arg334Trp) rs373971613 0.00005
NM_021930.6(RINT1):c.1333+1G>A rs375350359 0.00005
NM_022437.3(ABCG8):c.1877G>T (p.Gly626Val) rs763289865 0.00005
NM_025074.7(FRAS1):c.4843+2T>C rs370018000 0.00005
NM_025114.4(CEP290):c.6645+1G>A rs201218801 0.00005
NM_138691.3(TMC1):c.2027T>A (p.Val676Asp) rs764992976 0.00005
NM_138694.4(PKHD1):c.5129C>T (p.Pro1710Leu) rs749294509 0.00005
NM_144672.4(OTOA):c.1562T>C (p.Phe521Ser) rs145044236 0.00005
NM_000016.6(ACADM):c.388-5G>A rs759254037 0.00004
NM_000017.4(ACADS):c.1156C>T (p.Arg386Cys) rs537072819 0.00004
NM_000017.4(ACADS):c.815G>A (p.Arg272His) rs374726386 0.00004
NM_000023.4(SGCA):c.661C>T (p.Arg221Cys) rs748936034 0.00004
NM_000046.5(ARSB):c.455G>A (p.Arg152Gln) rs776814144 0.00004
NM_000053.4(ATP7B):c.503T>C (p.Leu168Pro) rs756237962 0.00004
NM_000082.4(ERCC8):c.481G>A (p.Val161Ile) rs148393161 0.00004
NM_000094.4(COL7A1):c.5097G>A (p.Pro1699=) rs369034739 0.00004
NM_000098.3(CPT2):c.1646G>A (p.Gly549Asp) rs186044004 0.00004
NM_000152.5(GAA):c.781G>A (p.Ala261Thr) rs543360994 0.00004
NM_000218.3(KCNQ1):c.583C>T (p.Arg195Trp) rs150172393 0.00004
NM_000256.3(MYBPC3):c.3373G>A (p.Val1125Met) rs121909378 0.00004
NM_000256.3(MYBPC3):c.557C>T (p.Pro186Leu) rs727503216 0.00004
NM_000257.4(MYH7):c.2206A>G (p.Ile736Val) rs397516138 0.00004
NM_000258.3(MYL3):c.460C>T (p.Arg154Cys) rs143852164 0.00004
NM_000277.3(PAH):c.1237C>T (p.Arg413Cys) rs62644467 0.00004
NM_000360.4(TH):c.91-818G>A rs753403788 0.00004
NM_000376.3(VDR):c.218G>A (p.Arg73Gln) rs121909791 0.00004
NM_000400.4(ERCC2):c.1377+2T>C rs201505264 0.00004
NM_000441.2(SLC26A4):c.697G>C (p.Val233Leu) rs397516431 0.00004
NM_000492.4(CFTR):c.794T>G (p.Met265Arg) rs148519623 0.00004
NM_000528.4(MAN2B1):c.2249G>A (p.Arg750Gln) rs373240866 0.00004
NM_000540.3(RYR1):c.11557G>A (p.Glu3853Lys) rs145087576 0.00004
NM_000540.3(RYR1):c.4361C>T (p.Pro1454Leu) rs149737658 0.00004
NM_000540.3(RYR1):c.6274+1G>A rs1226228092 0.00004
NM_000709.4(BCKDHA):c.349C>T (p.Arg117Cys) rs188135164 0.00004
NM_001005242.3(PKP2):c.2352C>T (p.Gly784=) rs727504509 0.00004
NM_001031710.3(KLHL7):c.793+5G>C rs375718274 0.00004
NM_001034116.2(EIF2B4):c.1399C>T (p.Arg467Trp) rs138249238 0.00004
NM_001044385.3(TMEM237):c.42+1G>A rs1378726802 0.00004
NM_001048174.2(MUTYH):c.752A>C (p.Asn251Thr) rs587778534 0.00004
NM_001048174.2(MUTYH):c.954G>A (p.Ser318=) rs372673338 0.00004
NM_001171.6(ABCC6):c.3704G>A (p.Arg1235Gln) rs138700741 0.00004
NM_001386393.1(PANK2):c.988C>T (p.Arg330Cys) rs201329683 0.00004
NM_001953.5(TYMP):c.128A>C (p.Lys43Thr) rs752137335 0.00004
NM_002317.7(LOX):c.1190G>A (p.Arg397His) rs749796906 0.00004
NM_002335.4(LRP5):c.1331G>A (p.Arg444His) rs761049544 0.00004
NM_002340.6(LSS):c.1054G>A (p.Gly352Arg) rs373046759 0.00004
NM_002437.5(MPV17):c.263A>T (p.Lys88Met) rs756530281 0.00004
NM_002772.3(TMPRSS15):c.533-2A>G rs543871957 0.00004
NM_005327.7(HADH):c.907G>A (p.Gly303Ser) rs201772964 0.00004
NM_006516.4(SLC2A1):c.653G>A (p.Arg218His) rs374080633 0.00004
NM_020451.3(SELENON):c.1574T>G (p.Met525Arg) rs761631813 0.00004
NM_023036.6(DNAI2):c.1142T>C (p.Leu381Pro) rs373836524 0.00004
NM_052845.4(MMAB):c.656A>G (p.Tyr219Cys) rs765547005 0.00004
NM_052989.3(IFT122):c.3031G>C (p.Ala1011Pro) rs199622112 0.00004
NM_133459.4(CCBE1):c.916-2A>G rs367990953 0.00004
NM_152490.5(B3GALNT2):c.979G>A (p.Asp327Asn) rs753340395 0.00004
NM_176869.3(PPA2):c.379C>T (p.Arg127Cys) rs372302682 0.00004
NM_206933.4(USH2A):c.14369A>C (p.Gln4790Pro) rs149807281 0.00004
NM_206933.4(USH2A):c.14570G>C (p.Gly4857Ala) rs749889050 0.00004
NM_213720.3(CHCHD10):c.196G>A (p.Gly66Ser) rs374211312 0.00004
NM_000018.4(ACADVL):c.1246G>T (p.Ala416Ser) rs118204018 0.00003
NM_000018.4(ACADVL):c.1748C>G (p.Ser583Trp) rs1085307648 0.00003
NM_000018.4(ACADVL):c.866G>A (p.Gly289Glu) rs778514103 0.00003
NM_000019.4(ACAT1):c.1229C>T (p.Ala410Val) rs767412638 0.00003
NM_000022.4(ADA):c.715G>A (p.Gly239Ser) rs777820729 0.00003
NM_000048.4(ASL):c.1367G>A (p.Arg456Gln) rs767271619 0.00003
NM_000053.4(ATP7B):c.3473G>T (p.Gly1158Val) rs770428835 0.00003
NM_000069.3(CACNA1S):c.1948+1G>A rs745712829 0.00003
NM_000138.5(FBN1):c.6623A>G (p.Asn2208Ser) rs146063839 0.00003
NM_000138.5(FBN1):c.6890C>T (p.Thr2297Met) rs773785908 0.00003
NM_000152.5(GAA):c.2799+4A>G rs778032599 0.00003
NM_000152.5(GAA):c.503G>A (p.Arg168Gln) rs376685205 0.00003
NM_000218.3(KCNQ1):c.1748G>A (p.Arg583His) rs199473482 0.00003
NM_000255.4(MMUT):c.1296A>C (p.Glu432Asp) rs748225883 0.00003
NM_000256.3(MYBPC3):c.2249C>T (p.Thr750Met) rs727503189 0.00003
NM_000256.3(MYBPC3):c.2311G>A (p.Val771Met) rs371488302 0.00003
NM_000263.4(NAGLU):c.235G>A (p.Gly79Ser) rs1276484671 0.00003
NM_000271.5(NPC1):c.1672G>T (p.Ala558Ser) rs201156397 0.00003
NM_000282.4(PCCA):c.782A>G (p.Glu261Gly) rs1169861687 0.00003
NM_000282.4(PCCA):c.802C>T (p.Arg268Cys) rs774738181 0.00003
NM_000317.3(PTS):c.338A>G (p.Tyr113Cys) rs762894736 0.00003
NM_000322.5(PRPH2):c.425G>A (p.Arg142Gln) rs554945964 0.00003
NM_000335.5(SCN5A):c.393-1C>T rs759235726 0.00003
NM_000350.3(ABCA4):c.2432G>A (p.Arg811His) rs368016280 0.00003
NM_000350.3(ABCA4):c.3305A>G (p.Asp1102Gly) rs143689372 0.00003
NM_000352.6(ABCC8):c.916C>T (p.Arg306Cys) rs751228166 0.00003
NM_000360.4(TH):c.90+13G>A rs77140743 0.00003
NM_000382.3(ALDH3A2):c.1267C>T (p.Arg423Cys) rs370654268 0.00003
NM_000527.5(LDLR):c.1868T>C (p.Ile623Thr) rs141155833 0.00003
NM_000528.4(MAN2B1):c.1204G>A (p.Glu402Lys) rs370760999 0.00003
NM_000532.5(PCCB):c.1514T>C (p.Ile505Thr) rs1353542774 0.00003
NM_000539.3(RHO):c.1021G>A (p.Glu341Lys) rs142322202 0.00003
NM_000540.3(RYR1):c.10229C>T (p.Pro3410Leu) rs769196275 0.00003
NM_000540.3(RYR1):c.1099C>T (p.Arg367Trp) rs140037232 0.00003
NM_000540.3(RYR1):c.12335C>T (p.Ser4112Leu) rs193922847 0.00003
NM_000540.3(RYR1):c.7099G>A (p.Ala2367Thr) rs146306934 0.00003
NM_000540.3(RYR1):c.7771C>G (p.Arg2591Gly) rs193922822 0.00003
NM_000540.3(RYR1):c.947G>T (p.Arg316Leu) rs193922761 0.00003
NM_000543.5(SMPD1):c.533T>A (p.Ile178Asn) rs749780769 0.00003
NM_001025356.3(ANO6):c.1880+1G>A rs371269172 0.00003
NM_001079866.2(BCS1L):c.551G>A (p.Arg184His) rs779504946 0.00003
NM_001126108.2(SLC12A3):c.2599G>A (p.Gly867Ser) rs370301695 0.00003
NM_001126128.2(PROK2):c.223-2A>G rs991290069 0.00003
NM_001127255.2(NLRP7):c.2130-2A>G rs764734665 0.00003
NM_001130987.2(DYSF):c.4079G>A (p.Arg1360Gln) rs747583441 0.00003
NM_001142800.2(EYS):c.9019G>T (p.Asp3007Tyr) rs888739369 0.00003
NM_001164508.2(NEB):c.11910+1G>A rs774495973 0.00003
NM_001360.3(DHCR7):c.1085G>A (p.Arg362His) rs142213147 0.00003
NM_001360.3(DHCR7):c.1336C>T (p.Arg446Trp) rs145043679 0.00003
NM_001360.3(DHCR7):c.862G>A (p.Glu288Lys) rs565893436 0.00003
NM_001363711.2(DUOX2):c.3847+2T>C rs199752932 0.00003
NM_001384474.1(LOXHD1):c.4212+5G>A rs752553552 0.00003
NM_001384732.1(CPLANE1):c.3857G>A (p.Arg1286His) rs139464953 0.00003
NM_001384732.1(CPLANE1):c.968C>T (p.Thr323Met) rs373704405 0.00003
NM_001540.5(HSPB1):c.372C>G (p.His124Gln) rs145243219 0.00003
NM_001845.6(COL4A1):c.343G>A (p.Gly115Ser) rs753989899 0.00003
NM_001845.6(COL4A1):c.922G>A (p.Gly308Arg) rs370677625 0.00003
NM_001851.6(COL9A1):c.876+1G>C rs202232444 0.00003
NM_001875.5(CPS1):c.1145C>T (p.Pro382Leu) rs201407486 0.00003
NM_001875.5(CPS1):c.3265C>T (p.Arg1089Cys) rs1392559810 0.00003
NM_002439.5(MSH3):c.1341-1G>T rs61754780 0.00003
NM_003060.4(SLC22A5):c.131C>T (p.Ala44Val) rs199689597 0.00003
NM_003060.4(SLC22A5):c.1403C>A (p.Thr468Lys) rs386134221 0.00003
NM_003235.5(TG):c.3847+1G>C rs748654543 0.00003
NM_003331.5(TYK2):c.691C>T (p.Arg231Trp) rs201917359 0.00003
NM_003560.4(PLA2G6):c.1547C>T (p.Ala516Val) rs151108668 0.00003
NM_003742.4(ABCB11):c.3629C>G (p.Thr1210Ser) rs1033490064 0.00003
NM_004183.4(BEST1):c.55C>T (p.Arg19Cys) rs765385264 0.00003
NM_005609.4(PYGM):c.1465C>T (p.Pro489Ser) rs752622662 0.00003
NM_005609.4(PYGM):c.2143C>T (p.Arg715Trp) rs780656375 0.00003
NM_005912.3(MC4R):c.449C>T (p.Thr150Ile) rs766665118 0.00003
NM_006005.3(WFS1):c.1949A>G (p.Tyr650Cys) rs765322804 0.00003
NM_006059.4(LAMC3):c.976+1G>C rs201519274 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_014049.5(ACAD9):c.728C>G (p.Thr243Arg) rs368222811 0.00003
NM_014249.4(NR2E3):c.1025T>C (p.Val342Ala) rs757665544 0.00003
NM_016180.5(SLC45A2):c.1325C>T (p.Pro442Leu) rs769448704 0.00003
NM_018075.5(ANO10):c.512T>C (p.Phe171Ser) rs373386030 0.00003
NM_020320.5(RARS2):c.1405C>T (p.Arg469Cys) rs767150990 0.00003
NM_020366.4(RPGRIP1):c.3100-1G>A rs371900300 0.00003
NM_020778.5(ALPK3):c.1828G>A (p.Val610Met) rs374911318 0.00003
NM_032520.5(GNPTG):c.742-1G>T rs373976323 0.00003
NM_033109.5(PNPT1):c.1382T>C (p.Val461Ala) rs752666494 0.00003
NM_138694.4(PKHD1):c.7430T>G (p.Phe2477Cys) rs1366295189 0.00003
NM_206933.4(USH2A):c.11267G>A (p.Gly3756Asp) rs1243406137 0.00003
NM_000018.4(ACADVL):c.1077G>A (p.Ala359=) rs779458466 0.00002
NM_000018.4(ACADVL):c.1154G>A (p.Arg385Gln) rs772014118 0.00002
NM_000023.4(SGCA):c.242G>A (p.Arg81His) rs747984529 0.00002
NM_000046.5(ARSB):c.305G>A (p.Arg102His) rs759356342 0.00002
NM_000053.4(ATP7B):c.2122-3C>T rs1593726901 0.00002
NM_000053.4(ATP7B):c.2575+5G>C rs551030054 0.00002
NM_000053.4(ATP7B):c.2984T>C (p.Val995Ala) rs777791532 0.00002
NM_000069.3(CACNA1S):c.520C>T (p.Arg174Trp) rs772226819 0.00002
NM_000070.3(CAPN3):c.1202A>G (p.Tyr401Cys) rs371784007 0.00002
NM_000071.3(CBS):c.301C>G (p.Leu101Val) rs369644531 0.00002
NM_000091.5(COL4A3):c.2954G>T (p.Gly985Val) rs121912827 0.00002
NM_000094.4(COL7A1):c.5441G>A (p.Arg1814His) rs756258247 0.00002
NM_000138.5(FBN1):c.467A>G (p.Asn156Ser) rs779490973 0.00002
NM_000138.5(FBN1):c.5086T>C (p.Tyr1696His) rs373320952 0.00002
NM_000143.4(FH):c.2T>G (p.Met1Arg) rs201261794 0.00002
NM_000152.5(GAA):c.1831G>A (p.Gly611Ser) rs1278340100 0.00002
NM_000158.4(GBE1):c.1063C>T (p.Arg355Cys) rs780431086 0.00002
NM_000191.3(HMGCL):c.493C>T (p.Arg165Trp) rs764039230 0.00002
NM_000218.3(KCNQ1):c.1747C>T (p.Arg583Cys) rs17221854 0.00002
NM_000218.3(KCNQ1):c.898G>A (p.Ala300Thr) rs120074187 0.00002
NM_000256.3(MYBPC3):c.2003G>A (p.Arg668His) rs727503191 0.00002
NM_000257.4(MYH7):c.1193G>A (p.Gly398Glu) rs730880158 0.00002
NM_000257.4(MYH7):c.5422G>A (p.Gly1808Ser) rs369940645 0.00002
NM_000257.4(MYH7):c.5561C>T (p.Thr1854Met) rs372381770 0.00002
NM_000260.4(MYO7A):c.616C>T (p.Arg206Cys) rs782361954 0.00002
NM_000273.3(GPR143):c.695C>T (p.Thr232Met) rs137852297 0.00002
NM_000274.4(OAT):c.1249C>T (p.Pro417Ser) rs763915205 0.00002
NM_000322.5(PRPH2):c.454A>G (p.Met152Val) rs146703538 0.00002
NM_000341.4(SLC3A1):c.1367G>A (p.Arg456His) rs373852467 0.00002
NM_000352.6(ABCC8):c.4297G>A (p.Gly1433Ser) rs781090024 0.00002
NM_000441.2(SLC26A4):c.1124A>G (p.Tyr375Cys) rs148425972 0.00002
NM_000441.2(SLC26A4):c.260A>G (p.Asp87Gly) rs111033344 0.00002
NM_000441.2(SLC26A4):c.572C>T (p.Ala191Val) rs372875358 0.00002
NM_000492.4(CFTR):c.165-3C>T rs200337193 0.00002
NM_000512.5(GALNS):c.986A>C (p.His329Pro) rs760892654 0.00002
NM_000527.5(LDLR):c.1588T>G (p.Phe530Val) rs875989924 0.00002
NM_000528.4(MAN2B1):c.2140T>C (p.Trp714Arg) rs864621993 0.00002
NM_000540.3(RYR1):c.12652T>C (p.Phe4218Leu) rs1568581720 0.00002
NM_000540.3(RYR1):c.13990T>C (p.Cys4664Arg) rs759500310 0.00002
NM_000540.3(RYR1):c.2045G>A (p.Arg682Gln) rs372513400 0.00002
NM_000540.3(RYR1):c.2635G>A (p.Glu879Lys) rs746904839 0.00002
NM_000540.3(RYR1):c.3535C>T (p.Arg1179Trp) rs763944786 0.00002
NM_000540.3(RYR1):c.3877C>A (p.Pro1293Thr) rs146407179 0.00002
NM_000540.3(RYR1):c.6359T>C (p.Met2120Thr) rs398123473 0.00002
NM_000540.3(RYR1):c.7291G>A (p.Asp2431Asn) rs193922810 0.00002
NM_000550.3(TYRP1):c.643C>T (p.His215Tyr) rs1160525621 0.00002
NM_001083614.2(EARS2):c.1394T>C (p.Leu465Pro) rs759857078 0.00002
NM_001126108.2(SLC12A3):c.1075A>G (p.Asn359Asp) rs781030242 0.00002
NM_001136472.2(LITAF):c.478C>T (p.Arg160Cys) rs748017885 0.00002
NM_001177316.2(SLC34A3):c.410C>T (p.Thr137Met) rs1373464667 0.00002
NM_001242896.3(DEPDC5):c.572A>G (p.Tyr191Cys) rs749809456 0.00002
NM_001352514.2(HLCS):c.1808A>G (p.Tyr603Cys) rs781603756 0.00002
NM_001352514.2(HLCS):c.2152G>A (p.Asp718Asn) rs119103228 0.00002
NM_001360.3(DHCR7):c.683G>A (p.Arg228Gln) rs201556114 0.00002
NM_001364171.2(ODAD1):c.707C>T (p.Ala236Val) rs374990723 0.00002
NM_001370658.1(BTD):c.1406A>C (p.Asn469Thr) rs104893692 0.00002
NM_001374736.1(DST):c.16609-1G>T rs766657292 0.00002
NM_001384140.1(PCDH15):c.2751+2T>C rs754543131 0.00002
NM_001845.6(COL4A1):c.1729G>C (p.Gly577Arg) rs752009614 0.00002
NM_001846.4(COL4A2):c.360+1G>A rs759305120 0.00002
NM_001846.4(COL4A2):c.826-1G>T rs759452442 0.00002
NM_002225.5(IVD):c.596G>T (p.Gly199Val) rs121434285 0.00002
NM_002335.4(LRP5):c.1519G>A (p.Gly507Ser) rs765290711 0.00002
NM_002662.5(PLD1):c.2543+1G>T rs779667018 0.00002
NM_002693.3(POLG):c.1156C>T (p.Arg386Cys) rs199759055 0.00002
NM_003560.4(PLA2G6):c.680C>T (p.Ala227Val) rs764957976 0.00002
NM_003849.4(SUCLG1):c.548T>C (p.Ile183Thr) rs140626260 0.00002
NM_004004.6(GJB2):c.585G>C (p.Met195Ile) rs570552952 0.00002
NM_004646.4(NPHS1):c.1714A>G (p.Ser572Gly) rs755254230 0.00002
NM_004646.4(NPHS1):c.319G>A (p.Ala107Thr) rs386833933 0.00002
NM_005609.4(PYGM):c.1129A>T (p.Asn377Tyr) rs954192338 0.00002
NM_005609.4(PYGM):c.614G>A (p.Gly205Asp) rs375724338 0.00002
NM_005609.4(PYGM):c.875T>C (p.Leu292Pro) rs780375860 0.00002
NM_007194.4(CHEK2):c.1169A>C (p.Tyr390Ser) rs200928781 0.00002
NM_015629.4(PRPF31):c.910C>T (p.Arg304Cys) rs750340477 0.00002
NM_016239.4(MYO15A):c.4072G>A (p.Gly1358Ser) rs1291982378 0.00002
NM_016239.4(MYO15A):c.4108C>T (p.Arg1370Cys) rs878854411 0.00002
NM_018006.5(TRMU):c.680G>C (p.Arg227Thr) rs764622793 0.00002
NM_018105.3(THAP1):c.238A>G (p.Ile80Val) rs372080941 0.00002
NM_018249.6(CDK5RAP2):c.2203-2A>T rs1204244672 0.00002
NM_020166.5(MCCC1):c.295G>A (p.Gly99Ser) rs375244642 0.00002
NM_020166.5(MCCC1):c.758C>T (p.Pro253Leu) rs202083272 0.00002
NM_020247.5(COQ8A):c.1651G>A (p.Glu551Lys) rs119468004 0.00002
NM_020547.3(AMHR2):c.1024C>T (p.Arg342Trp) rs374038746 0.00002
NM_020822.3(KCNT1):c.1067G>A (p.Arg356Gln) rs758152252 0.00002
NM_022132.5(MCCC2):c.129+3A>G rs1352606118 0.00002
NM_022132.5(MCCC2):c.578G>A (p.Arg193His) rs535519604 0.00002
NM_025074.7(FRAS1):c.3010+1G>A rs574631014 0.00002
NM_130837.3(OPA1):c.2962G>A (p.Val988Ile) rs375733283 0.00002
NM_138694.4(PKHD1):c.5360G>T (p.Cys1787Phe) rs367970695 0.00002
NM_138694.4(PKHD1):c.9059T>C (p.Leu3020Pro) rs757148837 0.00002
NM_145649.5(GCNT2):c.1154G>A (p.Arg385His) rs55940927 0.00002
NM_153033.5(KCTD7):c.458G>A (p.Arg153His) rs765235486 0.00002
NM_183050.4(BCKDHB):c.506A>G (p.Tyr169Cys) rs398124580 0.00002
NM_194248.3(OTOF):c.5815C>T (p.Arg1939Trp) rs368790049 0.00002
NM_206933.4(USH2A):c.821G>A (p.Arg274Gln) rs727504721 0.00002
NM_207346.3(TSEN54):c.370-2A>G rs762922379 0.00002
NM_000016.6(ACADM):c.1115C>A (p.Ala372Asp) rs781424858 0.00001
NM_000016.6(ACADM):c.216+5G>T rs528788578 0.00001
NM_000016.6(ACADM):c.296G>T (p.Gly99Val) rs370608001 0.00001
NM_000016.6(ACADM):c.395C>G (p.Pro132Arg) rs875989854 0.00001
NM_000016.6(ACADM):c.599+5G>A rs875989861 0.00001
NM_000017.4(ACADS):c.578C>T (p.Ser193Leu) rs369167716 0.00001
NM_000018.4(ACADVL):c.1183-15A>G rs765390290 0.00001
NM_000018.4(ACADVL):c.1198G>A (p.Val400Met) rs149116708 0.00001
NM_000018.4(ACADVL):c.374T>C (p.Leu125Pro) rs1416443472 0.00001
NM_000018.4(ACADVL):c.577G>C (p.Gly193Arg) rs763630981 0.00001
NM_000018.4(ACADVL):c.782T>C (p.Val261Ala) rs756069599 0.00001
NM_000018.4(ACADVL):c.881G>A (p.Gly294Glu) rs200573371 0.00001
NM_000018.4(ACADVL):c.899T>G (p.Met300Arg) rs142765230 0.00001
NM_000019.4(ACAT1):c.1167G>A (p.Met389Ile) rs377295639 0.00001
NM_000020.3(ACVRL1):c.598C>T (p.Arg200Trp) rs999380946 0.00001
NM_000023.4(SGCA):c.289G>C (p.Asp97His) rs774299871 0.00001
NM_000023.4(SGCA):c.502G>A (p.Gly168Arg) rs199810179 0.00001
NM_000023.4(SGCA):c.851G>A (p.Arg284His) rs369359375 0.00001
NM_000023.4(SGCA):c.957-11C>G rs1391089933 0.00001
NM_000026.4(ADSL):c.1339T>C (p.Ser447Pro) rs777821034 0.00001
NM_000033.4(ABCD1):c.1165C>T (p.Arg389Cys) rs128624215 0.00001
NM_000033.4(ABCD1):c.508G>A (p.Ala170Thr) rs782293513 0.00001
NM_000046.5(ARSB):c.247G>T (p.Asp83Tyr) rs1247117898 0.00001
NM_000046.5(ARSB):c.275C>T (p.Thr92Met) rs751010538 0.00001
NM_000046.5(ARSB):c.928A>G (p.Asn310Asp) rs1402584432 0.00001
NM_000048.4(ASL):c.1124A>G (p.Tyr375Cys) rs886062406 0.00001
NM_000048.4(ASL):c.1136G>A (p.Arg379His) rs200853731 0.00001
NM_000048.4(ASL):c.1354A>T (p.Ile452Phe) rs1211112295 0.00001
NM_000048.4(ASL):c.281G>A (p.Arg94His) rs777437569 0.00001
NM_000048.4(ASL):c.772G>A (p.Glu258Lys) rs909358635 0.00001
NM_000048.4(ASL):c.890G>A (p.Arg297Gln) rs750431938 0.00001
NM_000049.4(ASPA):c.432G>A (p.Lys144=) rs754087904 0.00001
NM_000049.4(ASPA):c.539G>T (p.Gly180Val) rs1014551540 0.00001
NM_000051.4(ATM):c.1234T>C (p.Trp412Arg) rs587779812 0.00001
NM_000051.4(ATM):c.2838+4A>G rs876659907 0.00001
NM_000051.4(ATM):c.7880A>G (p.Tyr2627Cys) rs767670019 0.00001
NM_000051.4(ATM):c.7984G>A (p.Val2662Ile) rs1315805984 0.00001
NM_000053.4(ATP7B):c.2182A>G (p.Asn728Asp) rs1459023925 0.00001
NM_000053.4(ATP7B):c.2355+4A>G rs776572343 0.00001
NM_000053.4(ATP7B):c.2518C>A (p.Pro840Thr) rs1017756733 0.00001
NM_000053.4(ATP7B):c.2606G>A (p.Gly869Glu) rs775553302 0.00001
NM_000053.4(ATP7B):c.2905C>T (p.Arg969Trp) rs774028495 0.00001
NM_000053.4(ATP7B):c.3109C>T (p.Pro1037Ser) rs750891085 0.00001
NM_000053.4(ATP7B):c.3317T>A (p.Val1106Asp) rs775541743 0.00001
NM_000053.4(ATP7B):c.3551T>C (p.Ile1184Thr) rs755817220 0.00001
NM_000053.4(ATP7B):c.3716T>G (p.Val1239Gly) rs374628199 0.00001
NM_000053.4(ATP7B):c.3863C>T (p.Thr1288Met) rs373748155 0.00001
NM_000053.4(ATP7B):c.3877G>A (p.Glu1293Lys) rs776300396 0.00001
NM_000053.4(ATP7B):c.3959G>C (p.Arg1320Thr) rs548512104 0.00001
NM_000053.4(ATP7B):c.4088C>G (p.Ser1363Cys) rs776848753 0.00001
NM_000053.4(ATP7B):c.52-1G>T rs1057517351 0.00001
NM_000053.4(ATP7B):c.588C>A (p.Asp196Glu) rs756718353 0.00001
NM_000069.3(CACNA1S):c.1583G>T (p.Arg528Leu) rs80338777 0.00001
NM_000069.3(CACNA1S):c.3795G>T (p.Gln1265His) rs201627041 0.00001
NM_000069.3(CACNA1S):c.4798-2A>G rs1428157373 0.00001
NM_000069.3(CACNA1S):c.695-1G>A rs1213421499 0.00001
NM_000070.3(CAPN3):c.1636C>T (p.Arg546Cys) rs372438001 0.00001
NM_000070.3(CAPN3):c.264T>G (p.Phe88Leu) rs760626912 0.00001
NM_000090.4(COL3A1):c.4254+3A>G rs376799861 0.00001
NM_000091.5(COL4A3):c.343G>A (p.Gly115Arg) rs202147112 0.00001
NM_000091.5(COL4A3):c.4351C>G (p.His1451Asp) rs1291948462 0.00001
NM_000091.5(COL4A3):c.441G>A (p.Pro147=) rs373559251 0.00001
NM_000092.5(COL4A4):c.1441G>A (p.Gly481Ser) rs181528936 0.00001
NM_000092.5(COL4A4):c.5044C>T (p.Arg1682Trp) rs766550724 0.00001
NM_000093.5(COL5A1):c.406C>T (p.Pro136Ser) rs777625241 0.00001
NM_000094.4(COL7A1):c.4705G>A (p.Gly1569Arg) rs989893662 0.00001
NM_000094.4(COL7A1):c.5096C>T (p.Pro1699Leu) rs121912845 0.00001
NM_000094.4(COL7A1):c.7115G>A (p.Gly2372Glu) rs1233025207 0.00001
NM_000094.4(COL7A1):c.7967G>T (p.Gly2656Val) rs557951372 0.00001
NM_000098.3(CPT2):c.1115A>G (p.His372Arg) rs1212235186 0.00001
NM_000128.4(F11):c.1103G>C (p.Gly368Ala) rs748926718 0.00001
NM_000137.4(FAH):c.81+2T>A rs772895065 0.00001
NM_000138.5(FBN1):c.3931T>A (p.Tyr1311Asn) rs1406315227 0.00001
NM_000143.4(FH):c.151C>T (p.Arg51Trp) rs778678782 0.00001
NM_000143.4(FH):c.1A>G (p.Met1Val) rs776806414 0.00001
NM_000143.4(FH):c.405T>G (p.His135Gln) rs1298815479 0.00001
NM_000143.4(FH):c.908T>C (p.Leu303Ser) rs201502246 0.00001
NM_000151.4(G6PC1):c.665G>C (p.Gly222Ala) rs515726229 0.00001
NM_000152.5(GAA):c.1402A>T (p.Ile468Phe) rs886043148 0.00001
NM_000152.5(GAA):c.2174G>A (p.Arg725Gln) rs577042191 0.00001
NM_000152.5(GAA):c.2236T>G (p.Trp746Gly) rs1479740763 0.00001
NM_000152.5(GAA):c.265C>T (p.Arg89Cys) rs534192892 0.00001
NM_000152.5(GAA):c.316C>T (p.Arg106Cys) rs915675670 0.00001
NM_000152.5(GAA):c.460C>T (p.Arg154Cys) rs539841659 0.00001
NM_000152.5(GAA):c.732G>C (p.Gln244His) rs1178922366 0.00001
NM_000152.5(GAA):c.842G>A (p.Arg281Gln) rs772607616 0.00001
NM_000152.5(GAA):c.858G>A (p.Thr286=) rs201056962 0.00001
NM_000153.4(GALC):c.1187G>A (p.Arg396Gln) rs887930208 0.00001
NM_000154.2(GALK1):c.520G>A (p.Glu174Lys) rs1363497653 0.00001
NM_000155.4(GALT):c.590A>G (p.Asp197Gly) rs1554709359 0.00001
NM_000155.4(GALT):c.857A>G (p.Tyr286Cys) rs367543262 0.00001
NM_000156.6(GAMT):c.391+15G>T rs367567416 0.00001
NM_000158.4(GBE1):c.1655C>T (p.Pro552Leu) rs777589783 0.00001
NM_000158.4(GBE1):c.1693C>T (p.Arg565Trp) rs552094593 0.00001
NM_000158.4(GBE1):c.1934+2T>C rs752625236 0.00001
NM_000163.5(GHR):c.504T>G (p.His168Gln) rs121909373 0.00001
NM_000166.6(GJB1):c.376C>T (p.His126Tyr) rs879253995 0.00001
NM_000169.3(GLA):c.596T>C (p.Val199Ala) rs781871113 0.00001
NM_000170.3(GLDC):c.1664T>G (p.Leu555Arg) rs765384489 0.00001
NM_000170.3(GLDC):c.2196T>A (p.Asn732Lys) rs386833544 0.00001
NM_000179.3(MSH6):c.2056G>T (p.Gly686Cys) rs1060502934 0.00001
NM_000179.3(MSH6):c.2972C>T (p.Pro991Leu) rs375966384 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.3725G>T (p.Arg1242Leu) rs63750119 0.00001
NM_000183.3(HADHB):c.998C>T (p.Pro333Leu) rs770736746 0.00001
NM_000187.4(HGD):c.347T>C (p.Leu116Pro) rs569846003 0.00001
NM_000187.4(HGD):c.473C>T (p.Pro158Leu) rs375396766 0.00001
NM_000199.5(SGSH):c.1262C>T (p.Thr421Met) rs767649680 0.00001
NM_000199.5(SGSH):c.548G>A (p.Cys183Tyr) rs1329133410 0.00001
NM_000208.4(INSR):c.356C>T (p.Ala119Val) rs1347473020 0.00001
NM_000215.4(JAK3):c.2323C>T (p.Arg775Cys) rs200624610 0.00001
NM_000218.3(KCNQ1):c.1765G>A (p.Gly589Ser) rs780676796 0.00001
NM_000218.3(KCNQ1):c.437A>G (p.Glu146Gly) rs914460959 0.00001
NM_000231.3(SGCG):c.158T>C (p.Leu53Pro) rs781760379 0.00001
NM_000232.5(SGCB):c.346A>G (p.Met116Val) rs752168132 0.00001
NM_000237.3(LPL):c.862G>A (p.Ala288Thr) rs1800011 0.00001
NM_000255.4(MMUT):c.656A>G (p.Asn219Ser) rs950211877 0.00001
NM_000256.3(MYBPC3):c.1409G>A (p.Arg470Gln) rs776734314 0.00001
NM_000257.4(MYH7):c.3337G>A (p.Ala1113Thr) rs193922388 0.00001
NM_000257.4(MYH7):c.4145G>A (p.Arg1382Gln) rs727504325 0.00001
NM_000257.4(MYH7):c.610C>T (p.Arg204Cys) rs397516259 0.00001
NM_000260.4(MYO7A):c.1208A>G (p.Tyr403Cys) rs797044511 0.00001
NM_000260.4(MYO7A):c.1496T>C (p.Ile499Thr) rs397516286 0.00001
NM_000260.4(MYO7A):c.3652G>A (p.Gly1218Arg) rs111033195 0.00001
NM_000260.4(MYO7A):c.5507T>C (p.Leu1836Pro) rs1164918878 0.00001
NM_000263.4(NAGLU):c.1843C>T (p.Arg615Cys) rs199729746 0.00001
NM_000271.5(NPC1):c.1156A>G (p.Ser386Gly) rs1192824648 0.00001
NM_000271.5(NPC1):c.1327-2dup rs1555636712 0.00001
NM_000271.5(NPC1):c.2833G>A (p.Asp945Asn) rs1428599096 0.00001
NM_000271.5(NPC1):c.2873G>A (p.Arg958Gln) rs120074132 0.00001
NM_000271.5(NPC1):c.2933G>A (p.Arg978His) rs752728865 0.00001
NM_000271.5(NPC1):c.3281T>C (p.Ile1094Thr) rs1338658857 0.00001
NM_000271.5(NPC1):c.3745A>G (p.Ser1249Gly) rs1415921261 0.00001
NM_000275.3(OCA2):c.1514T>C (p.Phe505Ser) rs753721437 0.00001
NM_000275.3(OCA2):c.1875A>C (p.Lys625Asn) rs1455447337 0.00001
NM_000275.3(OCA2):c.2079+5G>T rs745930102 0.00001
NM_000275.3(OCA2):c.2279A>T (p.Glu760Val) rs759815955 0.00001
NM_000277.3(PAH):c.1124A>G (p.Gln375Arg) rs1874694173 0.00001
NM_000277.3(PAH):c.811C>T (p.His271Tyr) rs62517164 0.00001
NM_000277.3(PAH):c.828G>A (p.Met276Ile) rs62514954 0.00001
NM_000282.4(PCCA):c.1593_1595del (p.Leu532del) rs937519016 0.00001
NM_000283.4(PDE6B):c.1726G>A (p.Gly576Ser) rs753925314 0.00001
NM_000298.6(PKLR):c.514G>C (p.Glu172Gln) rs757359024 0.00001
NM_000303.3(PMM2):c.124G>A (p.Gly42Arg) rs755402538 0.00001
NM_000303.3(PMM2):c.457A>G (p.Ile153Val) rs1596489094 0.00001
NM_000303.3(PMM2):c.52A>C (p.Thr18Pro) rs757040733 0.00001
NM_000306.4(POU1F1):c.143-2A>G rs746709336 0.00001
NM_000317.3(PTS):c.347A>G (p.Asp116Gly) rs104894279 0.00001
NM_000317.3(PTS):c.95G>A (p.Ser32Asn) rs374871539 0.00001
NM_000322.5(PRPH2):c.649A>G (p.Ser217Gly) rs767471467 0.00001
NM_000322.5(PRPH2):c.995T>A (p.Val332Glu) rs1582759492 0.00001
NM_000335.5(SCN5A):c.2441G>A (p.Arg814Gln) rs199473584 0.00001
NM_000335.5(SCN5A):c.3553G>A (p.Ala1185Thr) rs199473595 0.00001
NM_000335.5(SCN5A):c.3781G>A (p.Gly1261Ser) rs137854616 0.00001
NM_000335.5(SCN5A):c.4531C>T (p.Arg1511Trp) rs137854602 0.00001
NM_000335.5(SCN5A):c.656G>A (p.Arg219His) rs878855296 0.00001
NM_000350.3(ABCA4):c.1037A>C (p.Lys346Thr) rs61752389 0.00001
NM_000350.3(ABCA4):c.1528C>A (p.Leu510Ile) rs758584771 0.00001
NM_000350.3(ABCA4):c.185C>T (p.Pro62Leu) rs1057520211 0.00001
NM_000350.3(ABCA4):c.191C>T (p.Ala64Val) rs1388219872 0.00001
NM_000350.3(ABCA4):c.2042G>A (p.Arg681Gln) rs761380652 0.00001
NM_000350.3(ABCA4):c.2608C>T (p.Pro870Ser) rs867875828 0.00001
NM_000350.3(ABCA4):c.2919-10T>C rs886044733 0.00001
NM_000350.3(ABCA4):c.2942C>T (p.Pro981Leu) rs147826775 0.00001
NM_000350.3(ABCA4):c.3005G>A (p.Arg1002Gln) rs752000268 0.00001
NM_000350.3(ABCA4):c.3148G>A (p.Gly1050Ser) rs1034969302 0.00001
NM_000350.3(ABCA4):c.3206A>G (p.Lys1069Arg) rs775661924 0.00001
NM_000350.3(ABCA4):c.3218C>T (p.Ala1073Val) rs754788289 0.00001
NM_000350.3(ABCA4):c.3293G>A (p.Arg1098His) rs891533398 0.00001
NM_000350.3(ABCA4):c.3298A>G (p.Ile1100Val) rs572604704 0.00001
NM_000350.3(ABCA4):c.3481C>T (p.Arg1161Cys) rs553776104 0.00001
NM_000350.3(ABCA4):c.5528G>A (p.Arg1843Gln) rs777519184 0.00001
NM_000350.3(ABCA4):c.5773A>G (p.Arg1925Gly) rs757449019 0.00001
NM_000350.3(ABCA4):c.587C>T (p.Pro196Leu) rs769176363 0.00001
NM_000350.3(ABCA4):c.599T>C (p.Leu200Pro) rs1662215591 0.00001
NM_000352.6(ABCC8):c.20G>A (p.Gly7Asp) rs1848809864 0.00001
NM_000352.6(ABCC8):c.3784G>A (p.Ala1262Thr) rs1266053680 0.00001
NM_000352.6(ABCC8):c.4252C>T (p.Arg1418Cys) rs1468762603 0.00001
NM_000352.6(ABCC8):c.686C>T (p.Thr229Ile) rs768017509 0.00001
NM_000353.3(TAT):c.1298G>A (p.Arg433Gln) rs775488556 0.00001
NM_000359.3(TGM1):c.1075G>A (p.Val359Met) rs202037016 0.00001
NM_000359.3(TGM1):c.1121A>G (p.Tyr374Cys) rs2040782954 0.00001
NM_000360.4(TH):c.604C>T (p.Arg202Cys) rs1021029193 0.00001
NM_000363.5(TNNI3):c.11+1G>T rs2085744080 0.00001
NM_000363.5(TNNI3):c.5C>T (p.Ala2Val) rs397516359 0.00001
NM_000372.5(TYR):c.1026T>G (p.Asn342Lys) rs1565392064 0.00001
NM_000372.5(TYR):c.238T>C (p.Trp80Arg) rs61753188 0.00001
NM_000383.4(AIRE):c.173C>A (p.Ala58Asp) rs747941115 0.00001
NM_000383.4(AIRE):c.22C>T (p.Arg8Cys) rs1231469574 0.00001
NM_000391.4(TPP1):c.1339C>T (p.Arg447Cys) rs1035033641 0.00001
NM_000391.4(TPP1):c.163C>G (p.Gln55Glu) rs1315730321 0.00001
NM_000391.4(TPP1):c.182T>G (p.Leu61Arg) rs1060502179 0.00001
NM_000396.4(CTSK):c.137G>A (p.Arg46Gln) rs200870056 0.00001
NM_000396.4(CTSK):c.235G>A (p.Gly79Arg) rs750609110 0.00001
NM_000404.4(GLB1):c.1452C>G (p.Asn484Lys) rs968221254 0.00001
NM_000431.4(MVK):c.721C>T (p.Arg241Cys) rs758427037 0.00001
NM_000435.3(NOTCH3):c.2038C>T (p.Arg680Cys) rs1250956327 0.00001
NM_000440.3(PDE6A):c.1620G>A (p.Glu540=) rs727504072 0.00001
NM_000441.2(SLC26A4):c.1160C>A (p.Ala387Asp) rs777333979 0.00001
NM_000441.2(SLC26A4):c.1445G>C (p.Trp482Ser) rs774182356 0.00001
NM_000441.2(SLC26A4):c.1963A>G (p.Ile655Val) rs397516424 0.00001
NM_000441.2(SLC26A4):c.2003T>C (p.Leu668Pro) rs727504303 0.00001
NM_000441.2(SLC26A4):c.765+5G>A rs947864801 0.00001
NM_000466.3(PEX1):c.1777G>A (p.Gly593Arg) rs61750407 0.00001
NM_000466.3(PEX1):c.1991T>C (p.Leu664Pro) rs121434455 0.00001
NM_000466.3(PEX1):c.3038G>A (p.Arg1013His) rs1484321655 0.00001
NM_000478.6(ALPL):c.106A>C (p.Thr36Pro) rs747167000 0.00001
NM_000478.6(ALPL):c.127C>T (p.Leu43Phe) rs148357203 0.00001
NM_000478.6(ALPL):c.1454C>T (p.Ala485Val) rs886044912 0.00001
NM_000478.6(ALPL):c.422C>T (p.Thr141Ile) rs916300043 0.00001
NM_000478.6(ALPL):c.454C>T (p.Arg152Cys) rs200621180 0.00001
NM_000478.6(ALPL):c.643A>G (p.Ile215Val) rs769903299 0.00001
NM_000487.6(ARSA):c.674A>G (p.Tyr225Cys) rs527640350 0.00001
NM_000492.4(CFTR):c.2417A>G (p.Asp806Gly) rs397508375 0.00001
NM_000492.4(CFTR):c.2797A>G (p.Arg933Gly) rs397508436 0.00001
NM_000492.4(CFTR):c.3873G>C (p.Gln1291His) rs121909015 0.00001
NM_000492.4(CFTR):c.4225G>A (p.Glu1409Lys) rs397508699 0.00001
NM_000492.4(CFTR):c.941G>A (p.Gly314Glu) rs75763344 0.00001
NM_000497.4(CYP11B1):c.422G>A (p.Arg141Gln) rs267601810 0.00001
NM_000512.5(GALNS):c.1108C>T (p.Pro370Ser) rs749891007 0.00001
NM_000512.5(GALNS):c.1498G>A (p.Gly500Ser) rs1303492021 0.00001
NM_000512.5(GALNS):c.1558T>C (p.Trp520Arg) rs398123434 0.00001
NM_000512.5(GALNS):c.578A>G (p.Glu193Gly) rs1427663367 0.00001
NM_000512.5(GALNS):c.638C>T (p.Ala213Val) rs770239604 0.00001
NM_000512.5(GALNS):c.910G>A (p.Gly304Ser) rs764070268 0.00001
NM_000520.6(HEXA):c.1393G>A (p.Asp465Asn) rs750727201 0.00001
NM_000521.4(HEXB):c.448A>C (p.Thr150Pro) rs938611392 0.00001
NM_000525.4(KCNJ11):c.130G>A (p.Val44Met) rs1282255458 0.00001
NM_000525.4(KCNJ11):c.185C>T (p.Thr62Met) rs1057518775 0.00001
NM_000525.4(KCNJ11):c.874G>A (p.Glu292Lys) rs1174593640 0.00001
NM_000527.5(LDLR):c.1004G>A (p.Gly335Asp) rs869320650 0.00001
NM_000527.5(LDLR):c.1318A>G (p.Arg440Gly) rs879254861 0.00001
NM_000527.5(LDLR):c.1381G>T (p.Gly461Cys) rs193922568 0.00001
NM_000527.5(LDLR):c.1575T>G (p.Asp525Glu) rs763884010 0.00001
NM_000527.5(LDLR):c.1586G>A (p.Gly529Asp) rs878854025 0.00001
NM_000527.5(LDLR):c.1906G>A (p.Gly636Ser) rs764550980 0.00001
NM_000527.5(LDLR):c.1981C>A (p.Pro661Thr) rs1182317785 0.00001
NM_000527.5(LDLR):c.2023G>A (p.Gly675Ser) rs770744861 0.00001
NM_000527.5(LDLR):c.811G>A (p.Val271Ile) rs749220643 0.00001
NM_000527.5(LDLR):c.859G>A (p.Gly287Ser) rs375495026 0.00001
NM_000528.4(MAN2B1):c.2402G>A (p.Gly801Asp) rs864621994 0.00001
NM_000531.6(OTC):c.286T>C (p.Ser96Pro) rs184053962 0.00001
NM_000532.5(PCCB):c.563G>C (p.Gly188Ala) rs796052024 0.00001
NM_000540.3(RYR1):c.10937+1G>C rs775682151 0.00001
NM_000540.3(RYR1):c.1100G>A (p.Arg367Gln) rs113332073 0.00001
NM_000540.3(RYR1):c.11590+1G>T rs113928116 0.00001
NM_000540.3(RYR1):c.11608+2T>C rs1443083095 0.00001
NM_000540.3(RYR1):c.12406C>A (p.Arg4136Ser) rs193922849 0.00001
NM_000540.3(RYR1):c.12700G>A (p.Val4234Met) rs193922852 0.00001
NM_000540.3(RYR1):c.14378T>G (p.Leu4793Arg) rs118192179 0.00001
NM_000540.3(RYR1):c.15021G>C (p.Gln5007His) rs376293495 0.00001
NM_000540.3(RYR1):c.1588C>T (p.Arg530Cys) rs757399861 0.00001
NM_000540.3(RYR1):c.1655G>A (p.Arg552Gln) rs772978260 0.00001
NM_000540.3(RYR1):c.2897C>T (p.Pro966Leu) rs143179371 0.00001
NM_000540.3(RYR1):c.3253G>A (p.Gly1085Ser) rs752849270 0.00001
NM_000540.3(RYR1):c.326G>A (p.Arg109Gln) rs762278203 0.00001
NM_000540.3(RYR1):c.4160+1G>A rs113460156 0.00001
NM_000540.3(RYR1):c.530G>A (p.Arg177His) rs750303767 0.00001
NM_000540.3(RYR1):c.643G>A (p.Gly215Arg) rs1393197844 0.00001
NM_000540.3(RYR1):c.6610C>T (p.His2204Tyr) rs745432757 0.00001
NM_000540.3(RYR1):c.6664-2A>G rs1346257891 0.00001
NM_000540.3(RYR1):c.6701G>A (p.Arg2234His) rs1251260760 0.00001
NM_000540.3(RYR1):c.7076G>A (p.Arg2359Gln) rs1387126664 0.00001
NM_000540.3(RYR1):c.7199A>G (p.Asp2400Gly) rs976108591 0.00001
NM_000540.3(RYR1):c.7355G>A (p.Arg2452Gln) rs193922815 0.00001
NM_000540.3(RYR1):c.7757T>A (p.Val2586Glu) rs577314143 0.00001
NM_000540.3(RYR1):c.8310+1G>T rs1970380121 0.00001
NM_000540.3(RYR1):c.9472+1G>A rs776697656 0.00001
NM_000543.5(SMPD1):c.1427G>A (p.Arg476Gln) rs763566905 0.00001
NM_000545.8(HNF1A):c.1855G>A (p.Glu619Lys) rs1316999782 0.00001
NM_000546.6(TP53):c.1000G>C (p.Gly334Arg) rs730882028 0.00001
NM_000546.6(TP53):c.530C>T (p.Pro177Leu) rs751477326 0.00001
NM_000550.3(TYRP1):c.1298G>A (p.Gly433Glu) rs1172083752 0.00001
NM_000553.6(WRN):c.1898+2T>G rs772319506 0.00001
NM_000642.3(AGL):c.1027C>T (p.Arg343Trp) rs1131691438 0.00001
NM_000718.4(CACNA1B):c.5536+1G>A rs752588118 0.00001
NM_001018005.2(TPM1):c.548C>T (p.Ala183Val) rs397516376 0.00001
NM_001018005.2(TPM1):c.62G>T (p.Arg21Leu) rs730881151 0.00001
NM_001018005.2(TPM1):c.850A>G (p.Ile284Val) rs199476322 0.00001
NM_001034116.2(EIF2B4):c.1191+2T>C rs751867352 0.00001
NM_001038603.3(MARVELD2):c.1147-2A>G rs763062791 0.00001
NM_001044385.3(TMEM237):c.676A>G (p.Arg226Gly) rs2105899169 0.00001
NM_001048174.2(MUTYH):c.1556del (p.Ala519fs) rs587780086 0.00001
NM_001048174.2(MUTYH):c.299A>G (p.Tyr100Cys) rs876660615 0.00001
NM_001048174.2(MUTYH):c.992C>T (p.Pro331Leu) rs1060501323 0.00001
NM_001077418.3(TMEM231):c.438+5G>C rs1472951348 0.00001
NM_001080.3(ALDH5A1):c.692A>G (p.Glu231Gly) rs757605946 0.00001
NM_001083614.2(EARS2):c.1234C>T (p.Arg412Cys) rs549058278 0.00001
NM_001089.3(ABCA3):c.3208G>A (p.Ala1070Thr) rs1165435486 0.00001
NM_001101426.4(CRPPA):c.377G>A (p.Arg126His) rs752817129 0.00001
NM_001126108.2(SLC12A3):c.1001G>A (p.Arg334Gln) rs776296772 0.00001
NM_001126108.2(SLC12A3):c.1045C>G (p.Pro349Ala) rs1335601482 0.00001
NM_001126108.2(SLC12A3):c.1049C>T (p.Ser350Leu) rs778585043 0.00001
NM_001126108.2(SLC12A3):c.1919A>G (p.Asn640Ser) rs886039754 0.00001
NM_001126108.2(SLC12A3):c.2548C>T (p.Leu850Phe) rs765240540 0.00001
NM_001126108.2(SLC12A3):c.460A>T (p.Ile154Phe) rs748547209 0.00001
NM_001126108.2(SLC12A3):c.472C>T (p.Arg158Trp) rs1041531529 0.00001
NM_001130987.2(DYSF):c.4631A>G (p.Tyr1544Cys) rs757820496 0.00001
NM_001139.3(ALOX12B):c.1496G>A (p.Arg499His) rs768784091 0.00001
NM_001142800.2(EYS):c.5959A>C (p.Thr1987Pro) rs1278246029 0.00001
NM_001142800.2(EYS):c.8206G>C (p.Ala2736Pro) rs1250317776 0.00001
NM_001142800.2(EYS):c.8368A>G (p.Arg2790Gly) rs1554163993 0.00001
NM_001164508.2(NEB):c.1569+1G>A rs1553605553 0.00001
NM_001164508.2(NEB):c.8020G>A (p.Glu2674Lys) rs369224273 0.00001
NM_001165963.4(SCN1A):c.4628T>C (p.Phe1543Ser) rs121917992 0.00001
NM_001177701.3(IFT27):c.234+1G>A rs1159774355 0.00001
NM_001184880.2(PCDH19):c.809A>G (p.Asn270Ser) rs772171727 0.00001
NM_001195263.2(PDZD7):c.682G>A (p.Gly228Arg) rs753034799 0.00001
NM_001199799.2(ILDR1):c.206C>A (p.Pro69His) rs754492545 0.00001
NM_001212.4(C1QBP):c.576+2T>A rs779379127 0.00001
NM_001256317.3(TMPRSS3):c.1304G>A (p.Arg435His) rs769807644 0.00001
NM_001256317.3(TMPRSS3):c.1333G>A (p.Glu445Lys) rs777595673 0.00001
NM_001267550.2(TTN):c.32471-1G>A rs371725574 0.00001
NM_001278716.2(FBXL4):c.1390-1G>A rs767055284 0.00001
NM_001282225.2(ADA2):c.562C>G (p.Leu188Val) rs765219776 0.00001
NM_001297.5(CNGB1):c.2294G>A (p.Arg765His) rs761839551 0.00001
NM_001297.5(CNGB1):c.2320G>A (p.Glu774Lys) rs1286857064 0.00001
NM_001298.3(CNGA3):c.1307G>A (p.Arg436Gln) rs767083685 0.00001
NM_001319074.4(RAX2):c.91C>T (p.Arg31Cys) rs200153795 0.00001
NM_001360.3(DHCR7):c.1022T>C (p.Leu341Pro) rs1317526744 0.00001
NM_001360.3(DHCR7):c.1084C>T (p.Arg362Cys) rs371302153 0.00001
NM_001360.3(DHCR7):c.1277A>C (p.His426Pro) rs1354718634 0.00001
NM_001360.3(DHCR7):c.1424T>C (p.Phe475Ser) rs1478872904 0.00001
NM_001360016.2(G6PD):c.407G>A (p.Arg136His) rs782205676 0.00001
NM_001363711.2(DUOX2):c.3416-2A>C rs758000012 0.00001
NM_001370259.2(MEN1):c.466G>A (p.Gly156Ser) rs1085307471 0.00001
NM_001370658.1(BTD):c.-17+2T>C rs745648160 0.00001
NM_001370658.1(BTD):c.1246G>A (p.Glu416Lys) rs749460715 0.00001
NM_001370658.1(BTD):c.385T>C (p.Phe129Leu) rs397514359 0.00001
NM_001370658.1(BTD):c.704T>C (p.Ile235Thr) rs397514384 0.00001
NM_001374828.1(ARID1B):c.3236-1G>A rs752642190 0.00001
NM_001384474.1(LOXHD1):c.5731G>A (p.Gly1911Arg) rs780560784 0.00001
NM_001384732.1(CPLANE1):c.4482-1G>T rs774492992 0.00001
NM_001814.6(CTSC):c.116G>C (p.Trp39Ser) rs104894210 0.00001
NM_001844.5(COL2A1):c.2966G>A (p.Arg989His) rs756155678 0.00001
NM_001845.6(COL4A1):c.1657G>A (p.Gly553Ser) rs370670458 0.00001
NM_001845.6(COL4A1):c.4204G>A (p.Gly1402Ser) rs1179536054 0.00001
NM_001846.4(COL4A2):c.1012-1G>A rs1224451609 0.00001
NM_001846.4(COL4A2):c.1776+1G>A rs886039602 0.00001
NM_001875.5(CPS1):c.1837-8A>G rs1290474919 0.00001
NM_001875.5(CPS1):c.2945G>T (p.Gly982Val) rs121912595 0.00001
NM_001876.4(CPT1A):c.1393G>A (p.Gly465Arg) rs80356784 0.00001
NM_001876.4(CPT1A):c.1449C>A (p.His483Gln) rs1165511243 0.00001
NM_001918.5(DBT):c.1202T>C (p.Ile401Thr) rs1449113689 0.00001
NM_002296.4(LBR):c.1756C>T (p.Arg586Cys) rs199675363 0.00001
NM_002335.4(LRP5):c.1183C>T (p.Arg395Trp) rs1177481438 0.00001
NM_002335.4(LRP5):c.1348C>T (p.Arg450Cys) rs765695793 0.00001
NM_002335.4(LRP5):c.3763+2T>C rs774270653 0.00001
NM_002340.6(LSS):c.1194+5G>A rs748758448 0.00001
NM_002529.4(NTRK1):c.2143G>A (p.Val715Met) rs759190964 0.00001
NM_002529.4(NTRK1):c.2312G>A (p.Arg771His) rs780724170 0.00001
NM_002693.3(POLG):c.3542G>A (p.Ser1181Asn) rs149921636 0.00001
NM_003060.4(SLC22A5):c.1085C>T (p.Ser362Leu) rs886042092 0.00001
NM_003060.4(SLC22A5):c.1138G>A (p.Ala380Thr) rs781417085 0.00001
NM_003060.4(SLC22A5):c.42G>C (p.Trp14Cys) rs796052036 0.00001
NM_003060.4(SLC22A5):c.77G>A (p.Ser26Asn) rs772578415 0.00001
NM_003060.4(SLC22A5):c.902C>G (p.Ala301Gly) rs72552730 0.00001
NM_003242.6(TGFBR2):c.95-2A>G rs779131465 0.00001
NM_003322.6(TULP1):c.971A>C (p.Tyr324Ser) rs749776323 0.00001
NM_003560.4(PLA2G6):c.1898C>T (p.Ala633Val) rs201657455 0.00001
NM_003640.5(ELP1):c.1461-2A>G rs866046915 0.00001
NM_003742.4(ABCB11):c.154C>T (p.Arg52Trp) rs763526610 0.00001
NM_004004.6(GJB2):c.133G>A (p.Gly45Arg) rs1326514987 0.00001
NM_004004.6(GJB2):c.196G>A (p.Asp66Asn) rs104894403 0.00001
NM_004004.6(GJB2):c.584T>C (p.Met195Thr) rs1378679640 0.00001
NM_004092.4(ECHS1):c.712G>C (p.Ala238Pro) rs142639185 0.00001
NM_004168.4(SDHA):c.818C>T (p.Thr273Ile) rs587781720 0.00001
NM_004360.5(CDH1):c.2194C>T (p.Arg732Trp) rs864622198 0.00001
NM_004446.3(EPRS1):c.3344C>G (p.Pro1115Arg) rs1288116010 0.00001
NM_004453.4(ETFDH):c.679C>A (p.Pro227Thr) rs141407224 0.00001
NM_004453.4(ETFDH):c.814G>A (p.Gly272Arg) rs763541530 0.00001
NM_004612.4(TGFBR1):c.844T>C (p.Tyr282His) rs755827803 0.00001
NM_004614.5(TK2):c.497A>T (p.Asp166Val) rs921593414 0.00001
NM_004614.5(TK2):c.659T>C (p.Leu220Pro) rs1168827071 0.00001
NM_004646.4(NPHS1):c.3287-2A>C rs758432802 0.00001
NM_004937.3(CTNS):c.634G>A (p.Ala212Thr) rs768600603 0.00001
NM_005006.7(NDUFS1):c.1222C>T (p.Arg408Cys) rs149271416 0.00001
NM_005055.5(RAPSN):c.872G>A (p.Gly291Asp) rs374604570 0.00001
NM_005094.4(SLC27A4):c.1207T>C (p.Cys403Arg) rs770792971 0.00001
NM_005340.7(HINT1):c.284G>A (p.Arg95Gln) rs373197800 0.00001
NM_005591.4(MRE11):c.1563+1G>A rs1381679718 0.00001
NM_005591.4(MRE11):c.77T>C (p.Met26Thr) rs372068015 0.00001
NM_005609.4(PYGM):c.1193C>T (p.Pro398Leu) rs773204705 0.00001
NM_005609.4(PYGM):c.1996C>G (p.Gln666Glu) rs119103256 0.00001
NM_005609.4(PYGM):c.2021C>T (p.Ala674Val) rs1413827545 0.00001
NM_005609.4(PYGM):c.580C>T (p.Arg194Trp) rs376581557 0.00001
NM_005902.4(SMAD3):c.1129G>A (p.Val377Ile) rs730880216 0.00001
NM_005957.5(MTHFR):c.1263G>C (p.Trp421Cys) rs200688214 0.00001
NM_006005.3(WFS1):c.472G>A (p.Glu158Lys) rs567563179 0.00001
NM_006147.4(IRF6):c.134G>A (p.Arg45Gln) rs121434229 0.00001
NM_006231.4(POLE):c.5812-1G>T rs1296022681 0.00001
NM_006516.4(SLC2A1):c.695G>A (p.Arg232His) rs139412383 0.00001
NM_006767.4(LZTR1):c.1261-2A>G rs759240190 0.00001
NM_006767.4(LZTR1):c.993+1G>A rs770368435 0.00001
NM_007103.4(NDUFV1):c.733G>A (p.Val245Met) rs200829846 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_007294.4(BRCA1):c.5407-25T>A rs758780152 0.00001
NM_012434.5(SLC17A5):c.1355_1356insAA (p.Val453fs) rs1234745577 0.00001
NM_012434.5(SLC17A5):c.500T>C (p.Leu167Pro) rs587779410 0.00001
NM_014049.5(ACAD9):c.509C>T (p.Ala170Val) rs762521317 0.00001
NM_014140.4(SMARCAL1):c.2290C>T (p.Arg764Trp) rs1480919035 0.00001
NM_014254.3(RXYLT1):c.914+6T>G rs748809209 0.00001
NM_014362.4(HIBCH):c.365A>G (p.Tyr122Cys) rs121918329 0.00001
NM_014363.6(SACS):c.623G>T (p.Ser208Ile) rs911764681 0.00001
NM_014384.3(ACAD8):c.988C>T (p.Arg330Trp) rs121908420 0.00001
NM_014639.4(SKIC3):c.642+1G>A rs538894487 0.00001
NM_015338.6(ASXL1):c.141-2A>G rs768868045 0.00001
NM_015506.3(MMACHC):c.349G>C (p.Ala117Pro) rs752205161 0.00001
NM_016180.5(SLC45A2):c.1457C>T (p.Ala486Val) rs121912620 0.00001
NM_016180.5(SLC45A2):c.454T>C (p.Phe152Leu) rs202120684 0.00001
NM_016180.5(SLC45A2):c.497A>G (p.Tyr166Cys) rs752655063 0.00001
NM_016180.5(SLC45A2):c.686G>A (p.Cys229Tyr) rs769099171 0.00001
NM_016204.4(GDF2):c.1051T>C (p.Tyr351His) rs1486994359 0.00001
NM_016239.4(MYO15A):c.8147A>G (p.Gln2716Arg) rs756607995 0.00001
NM_017534.6(MYH2):c.5472+1G>A rs758888662 0.00001
NM_018052.5(VAC14):c.947-2A>G rs750777960 0.00001
NM_018668.5(VPS33B):c.96+1G>T rs1567232168 0.00001
NM_019098.5(CNGB3):c.1306A>C (p.Ser436Arg) rs748354081 0.00001
NM_020166.5(MCCC1):c.1330C>T (p.Arg444Cys) rs375996272 0.00001
NM_020451.3(SELENON):c.1501-1G>A rs750138587 0.00001
NM_020451.3(SELENON):c.873-2A>G rs1176143542 0.00001
NM_020533.3(MCOLN1):c.681-19A>C rs768736321 0.00001
NM_020738.4(KIDINS220):c.3585+1G>A rs775189420 0.00001
NM_020778.5(ALPK3):c.182+1G>A rs1963449829 0.00001
NM_020778.5(ALPK3):c.3965+2T>C rs1201826827 0.00001
NM_021625.5(TRPV4):c.695G>A (p.Arg232His) rs769107613 0.00001
NM_021625.5(TRPV4):c.812G>A (p.Arg271His) rs387907219 0.00001
NM_021830.5(TWNK):c.904C>T (p.Arg302Trp) rs374997012 0.00001
NM_021831.6(AGBL5):c.826C>T (p.Arg276Trp) rs879253769 0.00001
NM_021930.6(RINT1):c.689+1G>T rs1790698966 0.00001
NM_021942.6(TRAPPC11):c.3014C>T (p.Pro1005Leu) rs764158202 0.00001
NM_021942.6(TRAPPC11):c.3189+1G>A rs1170374164 0.00001
NM_022124.6(CDH23):c.1025A>G (p.Asn342Ser) rs1451062499 0.00001
NM_022124.6(CDH23):c.3220G>A (p.Asp1074Asn) rs750452808 0.00001
NM_022124.6(CDH23):c.4845G>A (p.Ser1615=) rs542618168 0.00001
NM_022132.5(MCCC2):c.1342G>A (p.Gly448Arg) rs766045910 0.00001
NM_023036.6(DNAI2):c.1288G>A (p.Gly430Arg) rs765285682 0.00001
NM_024306.5(FA2H):c.691T>C (p.Tyr231His) rs878855081 0.00001
NM_024312.5(GNPTAB):c.3571C>T (p.Arg1191Cys) rs1481471124 0.00001
NM_024334.3(TMEM43):c.1072T>C (p.Ser358Pro) rs1559363695 0.00001
NM_025103.4(IFT74):c.305+1G>A rs766986213 0.00001
NM_032608.7(MYO18B):c.3775+1G>C rs539007966 0.00001
NM_033109.5(PNPT1):c.337C>T (p.Pro113Ser) rs930190521 0.00001
NM_033380.3(COL4A5):c.3899G>C (p.Gly1300Ala) rs1252928330 0.00001
NM_033409.4(SLC52A3):c.211G>A (p.Glu71Lys) rs267606683 0.00001
NM_058216.3(RAD51C):c.935G>A (p.Arg312Gln) rs779834376 0.00001
NM_080632.3(UPF3B):c.846+1G>A rs373920032 0.00001
NM_080680.3(COL11A2):c.939+1G>A rs750173113 0.00001
NM_133459.4(CCBE1):c.213-1G>A rs201030273 0.00001
NM_138413.4(HOGA1):c.580G>A (p.Gly194Ser) rs763146679 0.00001
NM_138694.4(PKHD1):c.11284C>A (p.Pro3762Thr) rs1229349983 0.00001
NM_138694.4(PKHD1):c.1409G>T (p.Gly470Val) rs776845008 0.00001
NM_138694.4(PKHD1):c.2167C>T (p.Arg723Cys) rs794727366 0.00001
NM_138694.4(PKHD1):c.2638C>T (p.Arg880Cys) rs752646435 0.00001
NM_138694.4(PKHD1):c.3383T>C (p.Ile1128Thr) rs78624439 0.00001
NM_138694.4(PKHD1):c.428A>G (p.Tyr143Cys) rs141093030 0.00001
NM_138694.4(PKHD1):c.5869G>A (p.Asp1957Asn) rs200929620 0.00001
NM_138694.4(PKHD1):c.6074A>G (p.Tyr2025Cys) rs1554144226 0.00001
NM_138694.4(PKHD1):c.8411T>A (p.Met2804Lys) rs794727759 0.00001
NM_138694.4(PKHD1):c.9152T>C (p.Ile3051Thr) rs1374086784 0.00001
NM_138694.4(PKHD1):c.931A>G (p.Thr311Ala) rs890884615 0.00001
NM_144573.4(NEXN):c.688-1G>C rs761030548 0.00001
NM_152419.3(HGSNAT):c.1445T>A (p.Met482Lys) rs121908284 0.00001
NM_152618.3(BBS12):c.1276T>C (p.Cys426Arg) rs771456483 0.00001
NM_153033.5(KCTD7):c.280C>T (p.Arg94Trp) rs387907260 0.00001
NM_173689.7(CRB2):c.3219C>G (p.Asp1073Glu) rs1443443959 0.00001
NM_174936.4(PCSK9):c.643C>T (p.Arg215Cys) rs753505066 0.00001
NM_183235.3(RAB27A):c.121A>G (p.Thr41Ala) rs1896186645 0.00001
NM_194248.3(OTOF):c.5374C>T (p.Arg1792Cys) rs142111099 0.00001
NM_198904.4(GABRG2):c.530G>A (p.Arg177Gln) rs1445637165 0.00001
NM_201253.3(CRB1):c.3936C>G (p.Cys1312Trp) rs1665481687 0.00001
NM_206933.4(USH2A):c.1037A>G (p.Asn346Ser) rs773301677 0.00001
NM_206933.4(USH2A):c.10996T>G (p.Cys3666Gly) rs766505885 0.00001
NM_206933.4(USH2A):c.13514A>G (p.Tyr4505Cys) rs1268140508 0.00001
NM_206933.4(USH2A):c.14294T>C (p.Val4765Ala) rs763127023 0.00001
NM_206933.4(USH2A):c.5018T>C (p.Leu1673Pro) rs1162305984 0.00001
NM_207122.2(EXT2):c.1305+2T>C rs202153611 0.00001
NM_213599.3(ANO5):c.2237C>A (p.Ala746Asp) rs886042907 0.00001
NC_000019.10:g.11089400C>A rs879254368
NC_000019.10:g.11089413C>G rs879254374
NM_000016.6(ACADM):c.1046G>T (p.Arg349Leu) rs760335676
NM_000016.6(ACADM):c.241G>A (p.Ala81Thr) rs1448376709
NM_000016.6(ACADM):c.346T>G (p.Cys116Gly) rs875989863
NM_000016.6(ACADM):c.353G>C (p.Gly118Ala) rs1647188699
NM_000016.6(ACADM):c.494C>T (p.Ala165Val) rs1260394550
NM_000016.6(ACADM):c.592G>A (p.Ala198Thr) rs1647485086
NM_000016.6(ACADM):c.622G>T (p.Asp208Tyr) rs983879715
NM_000017.4(ACADS):c.1054G>A (p.Ala352Thr) rs202078273
NM_000018.4(ACADVL):c.1055T>C (p.Met352Thr) rs2071296504
NM_000018.4(ACADVL):c.1081G>A (p.Asp361Asn) rs1331739604
NM_000018.4(ACADVL):c.1103A>C (p.Gln368Pro) rs776063244
NM_000018.4(ACADVL):c.1276G>A (p.Ala426Thr) rs1419478766
NM_000018.4(ACADVL):c.1321G>A (p.Gly441Ser) rs2071346777
NM_000018.4(ACADVL):c.1376G>C (p.Arg459Pro) rs751995154
NM_000018.4(ACADVL):c.1384G>A (p.Glu462Lys) rs2071355499
NM_000018.4(ACADVL):c.1613G>C (p.Arg538Pro) rs201350598
NM_000018.4(ACADVL):c.1616C>A (p.Ala539Asp) rs781613690
NM_000018.4(ACADVL):c.1678+3_1678+6del rs759135941
NM_000018.4(ACADVL):c.1923G>C (p.Leu641Phe) rs1452402269
NM_000018.4(ACADVL):c.215C>T (p.Ser72Phe) rs1161495077
NM_000018.4(ACADVL):c.260T>C (p.Val87Ala) rs796051907
NM_000018.4(ACADVL):c.272C>A (p.Pro91Gln) rs2071160066
NM_000018.4(ACADVL):c.430C>G (p.Leu144Val) rs2508264631
NM_000018.4(ACADVL):c.535G>T (p.Gly179Trp) rs796051909
NM_000018.4(ACADVL):c.638C>T (p.Ala213Val) rs2071252145
NM_000018.4(ACADVL):c.689C>T (p.Thr230Ile) rs1241935771
NM_000018.4(ACADVL):c.709T>C (p.Cys237Arg) rs1189763523
NM_000018.4(ACADVL):c.739A>G (p.Lys247Glu) rs387906253
NM_000019.4(ACAT1):c.1253G>A (p.Gly418Asp) rs886042080
NM_000019.4(ACAT1):c.163_167delinsAA (p.Phe55_Leu56delinsLys) rs1591361995
NM_000020.3(ACVRL1):c.1252G>A (p.Val418Met) rs753480401
NM_000020.3(ACVRL1):c.500C>G (p.Ser167Cys) rs2540160946
NM_000022.4(ADA):c.1078+2T>C rs1555843178
NM_000023.4(SGCA):c.246C>A (p.Ser82Arg) rs1598265282
NM_000023.4(SGCA):c.271G>T (p.Gly91Cys) rs890921874
NM_000023.4(SGCA):c.304G>T (p.Val102Phe) rs1266940329
NM_000023.4(SGCA):c.614C>T (p.Pro205Leu) rs757481230
NM_000023.4(SGCA):c.644C>T (p.Ser215Phe) rs750844090
NM_000023.4(SGCA):c.850C>G (p.Arg284Gly) rs137852623
NM_000027.4(AGA):c.179G>A (p.Gly60Asp) rs121964907
NM_000030.3(AGXT):c.806T>C (p.Leu269Pro) rs180177271
NM_000033.4(ABCD1):c.1675T>C (p.Tyr559His) rs2091764510
NM_000033.4(ABCD1):c.1816T>C (p.Ser606Pro) rs201774661
NM_000033.4(ABCD1):c.1900G>A (p.Ala634Thr) rs782041940
NM_000033.4(ABCD1):c.653C>T (p.Pro218Leu) rs1569540710
NM_000033.4(ABCD1):c.739G>A (p.Ala247Thr) rs782487174
NM_000033.4(ABCD1):c.892G>A (p.Gly298Ser) rs1603232243
NM_000038.6(APC):c.4139C>T (p.Thr1380Ile) rs876660713
NM_000038.6(APC):c.4732T>G (p.Cys1578Gly) rs138367627
NM_000045.4(ARG1):c.860AAG[1] (p.Glu288del) rs1399124034
NM_000046.5(ARSB):c.1442C>T (p.Pro481Leu) rs906245021
NM_000046.5(ARSB):c.206C>T (p.Thr69Met) rs1554032175
NM_000046.5(ARSB):c.944G>C (p.Arg315Pro) rs727503809
NM_000048.4(ASL):c.1080G>C (p.Met360Ile) rs1786857910
NM_000048.4(ASL):c.503G>A (p.Arg168His) rs727503811
NM_000048.4(ASL):c.571C>G (p.Arg191Gly) rs143508372
NM_000048.4(ASL):c.675C>G (p.Ile225Met) rs1554327265
NM_000048.4(ASL):c.718+5G>A rs869312990
NM_000049.4(ASPA):c.427A>T (p.Ile143Phe) rs199565861
NM_000049.4(ASPA):c.542C>T (p.Pro181Leu) rs1335267315
NM_000049.4(ASPA):c.89T>C (p.Leu30Pro) rs1555538144
NM_000051.4(ATM):c.1844T>C (p.Leu615Pro) rs786203783
NM_000051.4(ATM):c.497-1G>T rs778624615
NM_000051.4(ATM):c.5177+5G>A rs759373136
NM_000051.4(ATM):c.6145T>G (p.Tyr2049Asp) rs786203767
NM_000051.4(ATM):c.7788G>C (p.Glu2596Asp) rs587780639
NM_000053.4(ATP7B):c.2120A>G (p.Gln707Arg) rs2547724461
NM_000053.4(ATP7B):c.2129G>C (p.Gly710Ala) rs1555291285
NM_000053.4(ATP7B):c.2132G>A (p.Gly711Glu) rs2139545313
NM_000053.4(ATP7B):c.2486A>T (p.Asp829Val) rs1566503575
NM_000053.4(ATP7B):c.254G>C (p.Gly85Ala) rs786204643
NM_000053.4(ATP7B):c.2558A>G (p.Asp853Gly) rs752634617
NM_000053.4(ATP7B):c.2662A>T (p.Thr888Ser) rs1455758826
NM_000053.4(ATP7B):c.2681C>T (p.Thr894Ile) rs1340729837
NM_000053.4(ATP7B):c.2827G>T (p.Gly943Cys) rs28942076
NM_000053.4(ATP7B):c.2999G>T (p.Gly1000Val) rs1957653671
NM_000053.4(ATP7B):c.3041C>T (p.Pro1014Leu) rs2139048200
NM_000053.4(ATP7B):c.3266G>A (p.Gly1089Glu) rs1555285911
NM_000053.4(ATP7B):c.3296G>A (p.Gly1099Asp) rs2547613010
NM_000053.4(ATP7B):c.3452G>A (p.Arg1151His) rs377297166
NM_000053.4(ATP7B):c.3548C>G (p.Ala1183Gly) rs587783315
NM_000053.4(ATP7B):c.3767A>G (p.Gln1256Arg) rs1555283946
NM_000053.4(ATP7B):c.3958A>G (p.Arg1320Gly) rs2138561490
NM_000053.4(ATP7B):c.3971A>G (p.Asn1324Ser) rs760285767
NM_000059.4(BRCA2):c.425G>T (p.Ser142Ile) rs397507713
NM_000059.4(BRCA2):c.8167G>A (p.Asp2723Asn) rs41293511
NM_000069.3(CACNA1S):c.1949-8_1986del rs1280451927
NM_000069.3(CACNA1S):c.2063+1G>A rs1407484817
NM_000069.3(CACNA1S):c.2158-2A>G rs2102135936
NM_000069.3(CACNA1S):c.3715C>T (p.Arg1239Cys) rs28930069
NM_000069.3(CACNA1S):c.4113+1G>A rs1558056376
NM_000070.3(CAPN3):c.1006T>G (p.Tyr336Asp) rs745967703
NM_000070.3(CAPN3):c.2148G>T (p.Glu716Asp) rs770894443
NM_000070.3(CAPN3):c.397G>A (p.Ala133Thr) rs946415346
NM_000070.3(CAPN3):c.985G>C (p.Gly329Arg) rs1085307995
NM_000071.3(CBS):c.1616T>C (p.Leu539Ser) rs121964968
NM_000071.3(CBS):c.262C>G (p.Pro88Ala) rs2146413970
NM_000071.3(CBS):c.359A>G (p.Asp120Gly) rs1982750491
NM_000071.3(CBS):c.683A>G (p.Asn228Ser) rs1555874803
NM_000071.3(CBS):c.752T>C (p.Leu251Pro) rs1176770868
NM_000080.4(CHRNE):c.501-10_504dup rs768552387
NM_000080.4(CHRNE):c.713G>A (p.Arg238Gln) rs2151097307
NM_000081.4(LYST):c.7460+3_7460+6del rs2527732015
NM_000082.4(ERCC8):c.611C>A (p.Thr204Lys) rs1211144774
NM_000083.3(CLCN1):c.691A>G (p.Lys231Glu) rs1586486170
NM_000090.4(COL3A1):c.1754G>T (p.Gly585Val) rs2153502692
NM_000090.4(COL3A1):c.944G>C (p.Gly315Ala) rs587779487
NM_000091.5(COL4A3):c.1594G>A (p.Gly532Ser) rs779575469
NM_000091.5(COL4A3):c.2657-1G>T rs373324875
NM_000092.5(COL4A4):c.4334-23A>G rs766501515
NM_000092.5(COL4A4):c.81_86del (p.27IL[1]) rs771943519
NM_000093.5(COL5A1):c.5204G>A (p.Ser1735Asn) rs1588615451
NM_000108.5(DLD):c.1463del (p.Pro488fs) rs1554400720
NM_000116.5(TAFAZZIN):c.590G>A (p.Gly197Glu) rs397515746
NM_000128.4(F11):c.1288G>T (p.Ala430Ser) rs753909969
NM_000128.4(F11):c.1777A>T (p.Thr593Ser) rs1741382224
NM_000135.4(FANCA):c.1776+7A>G rs1555552070
NM_000135.4(FANCA):c.189+2T>A rs2041094594
NM_000135.4(FANCA):c.2316+1_2316+3del rs2039275264
NM_000135.4(FANCA):c.3392C>T (p.Thr1131Ile) rs2143109078
NM_000135.4(FANCA):c.3490C>T (p.Pro1164Ser) rs545772434
NM_000135.4(FANCA):c.3602AAG[1] (p.Glu1202del) rs1380850249
NM_000135.4(FANCA):c.3934+1G>A rs2062087795
NM_000135.4(FANCA):c.4285G>A (p.Asp1429Asn) rs748856769
NM_000135.4(FANCA):c.826+2T>C rs2143585058
NM_000137.4(FAH):c.607-6T>G rs80338896
NM_000138.5(FBN1):c.229G>A (p.Gly77Arg) rs794728290
NM_000138.5(FBN1):c.3677G>T (p.Gly1226Val) rs1555398387
NM_000138.5(FBN1):c.697C>T (p.Arg233Cys) rs397515841
NM_000141.5(FGFR2):c.1066T>G (p.Trp356Gly) rs2134254562
NM_000142.5(FGFR3):c.598C>T (p.Arg200Cys) rs886043613
NM_000143.4(FH):c.1170C>A (p.Asn390Lys) rs1659806898
NM_000143.4(FH):c.1431_1433dup (p.Lys477dup) rs367543046
NM_000143.4(FH):c.452T>A (p.Met151Lys) rs1660099266
NM_000143.4(FH):c.839G>A (p.Gly280Asp) rs863223969
NM_000143.4(FH):c.842C>T (p.Thr281Ile) rs1573881633
NM_000143.4(FH):c.998G>A (p.Cys333Tyr) rs1553341032
NM_000151.4(G6PC1):c.497T>C (p.Val166Ala) rs104894571
NM_000151.4(G6PC1):c.674T>C (p.Leu225Pro) rs1555560128
NM_000152.5(GAA):c.1114C>T (p.His372Tyr) rs1555600070
NM_000152.5(GAA):c.1190C>T (p.Pro397Leu) rs776008078
NM_000152.5(GAA):c.1216G>A (p.Asp406Asn) rs1555600179
NM_000152.5(GAA):c.1317GAT[1] (p.Met440del) rs1555600235
NM_000152.5(GAA):c.1780C>T (p.Arg594Cys) rs1428112902
NM_000152.5(GAA):c.1940G>T (p.Cys647Phe) rs1265892085
NM_000152.5(GAA):c.2132_2133delinsGG (p.Thr711Arg) rs1555601773
NM_000152.5(GAA):c.2237G>T (p.Trp746Leu) rs752921215
NM_000152.5(GAA):c.569G>T (p.Arg190Leu) rs528367092
NM_000152.5(GAA):c.710C>T (p.Ala237Val) rs121907944
NM_000152.5(GAA):c.953T>A (p.Met318Lys) rs121907936
NM_000153.4(GALC):c.136G>C (p.Asp46His) rs751975987
NM_000153.4(GALC):c.1400C>T (p.Thr467Ile) rs750431739
NM_000153.4(GALC):c.1942A>T (p.Lys648Ter) rs1884501856
NM_000153.4(GALC):c.203C>T (p.Ser68Phe) rs1555383892
NM_000155.4(GALT):c.1049C>A (p.Thr350Asn) rs775317639
NM_000155.4(GALT):c.394C>T (p.His132Tyr) rs111033688
NM_000155.4(GALT):c.405G>A (p.Ser135=) rs141232328
NM_000155.4(GALT):c.547C>A (p.Pro183Thr) rs111033721
NM_000158.4(GBE1):c.1484T>C (p.Met495Thr) rs1456579860
NM_000159.4(GCDH):c.203G>C (p.Arg68Thr) rs1417389111
NM_000159.4(GCDH):c.437C>A (p.Ser146Tyr) rs1555749927
NM_000159.4(GCDH):c.680G>A (p.Arg227Gln) rs121434373
NM_000162.5(GCK):c.1130G>A (p.Arg377His) rs193922264
NM_000162.5(GCK):c.1247A>C (p.His416Pro) rs1583591303
NM_000162.5(GCK):c.364C>G (p.Leu122Val) rs1554335616
NM_000162.5(GCK):c.449T>A (p.Phe150Tyr) rs193922297
NM_000162.5(GCK):c.451T>C (p.Ser151Pro) rs2484529481
NM_000162.5(GCK):c.540T>G (p.Asn180Lys) rs1554335444
NM_000162.5(GCK):c.595G>A (p.Val199Met) rs1554335417
NM_000162.5(GCK):c.601G>T (p.Ala201Ser) rs794727775
NM_000162.5(GCK):c.736G>A (p.Gly246Arg) rs2096275721
NM_000162.5(GCK):c.737G>C (p.Gly246Ala) rs1583596522
NM_000162.5(GCK):c.758T>C (p.Val253Ala) rs193921400
NM_000166.6(GJB1):c.173C>G (p.Pro58Arg) rs1602348876
NM_000166.6(GJB1):c.563CCGTCTTCA[1] (p.188TVF[1]) rs116840823
NM_000169.3(GLA):c.239G>A (p.Gly80Asp) rs781838005
NM_000169.3(GLA):c.265C>T (p.Leu89Phe) rs1555986305
NM_000170.3(GLDC):c.1676C>A (p.Thr559Asn) rs1554646634
NM_000170.3(GLDC):c.1926+5G>A rs1554644678
NM_000170.3(GLDC):c.2033_2035del (p.Ala678del) rs769625871
NM_000170.3(GLDC):c.2297G>T (p.Gly766Val) rs750384225
NM_000170.3(GLDC):c.2631_2639del (p.Glu877_Val879del) rs1554642294
NM_000170.3(GLDC):c.2983G>A (p.Asp995Asn) rs1554641505
NM_000179.3(MSH6):c.2341C>A (p.Pro781Thr) rs587779235
NM_000179.3(MSH6):c.2342C>T (p.Pro781Leu) rs1553413710
NM_000179.3(MSH6):c.3400G>C (p.Gly1134Arg) rs1114167697
NM_000179.3(MSH6):c.3469G>A (p.Gly1157Ser) rs587779264
NM_000179.3(MSH6):c.3602T>G (p.Leu1201Arg) rs2530823755
NM_000179.3(MSH6):c.3729ATT[1] (p.Leu1244del) rs876658650
NM_000179.3(MSH6):c.4002-22_4002-10delinsAAGGG rs878853744
NM_000181.4(GUSB):c.1412A>C (p.Lys471Thr) rs1302470051
NM_000187.4(HGD):c.368G>A (p.Gly123Glu) rs374473331
NM_000199.5(SGSH):c.1195G>A (p.Asp399Asn) rs1064794815
NM_000199.5(SGSH):c.171C>G (p.Ser57Arg) rs1131691434
NM_000199.5(SGSH):c.539C>T (p.Pro180Leu) rs2510890872
NM_000199.5(SGSH):c.675C>G (p.Phe225Leu) rs34520362
NM_000199.5(SGSH):c.734G>T (p.Arg245Leu) rs104894635
NM_000199.5(SGSH):c.927C>G (p.Ser309Arg) rs1385473515
NM_000202.8(IDS):c.1439C>T (p.Pro480Leu) rs2123994251
NM_000203.5(IDUA):c.1091C>A (p.Thr364Lys) rs121965032
NM_000203.5(IDUA):c.1091C>G (p.Thr364Arg) rs121965032
NM_000206.3(IL2RG):c.694G>A (p.Gly232Arg) rs1569479909
NM_000215.4(JAK3):c.1207C>T (p.Arg403Cys) rs1257606008
NM_000215.4(JAK3):c.1915-1G>A rs1449943380
NM_000218.3(KCNQ1):c.1045T>C (p.Ser349Pro) rs199472764
NM_000218.3(KCNQ1):c.1831G>T (p.Asp611Tyr) rs147445322
NM_000218.3(KCNQ1):c.887T>C (p.Phe296Ser) rs199472738
NM_000218.3(KCNQ1):c.914G>T (p.Trp305Leu) rs120074186
NM_000219.6(KCNE1):c.292C>T (p.Arg98Trp) rs199473362
NM_000233.4(LHCGR):c.1733A>C (p.Asp578Ala) rs121912518
NM_000238.4(KCNH2):c.2362G>A (p.Glu788Lys) rs199472997
NM_000249.4(MLH1):c.110A>G (p.Glu37Gly) rs876658410
NM_000249.4(MLH1):c.1178T>C (p.Leu393Pro) rs786203413
NM_000249.4(MLH1):c.1744C>T (p.Leu582Phe) rs63751713
NM_000249.4(MLH1):c.1832TTG[1] (p.Val612del) rs63750486
NM_000249.4(MLH1):c.188A>G (p.Asp63Gly) rs1064795693
NM_000249.4(MLH1):c.1918C>A (p.Pro640Thr) rs63749792
NM_000249.4(MLH1):c.1918C>G (p.Pro640Ala) rs63749792
NM_000249.4(MLH1):c.2048T>C (p.Phe683Ser) rs587778972
NM_000249.4(MLH1):c.245C>G (p.Thr82Ser) rs63750005
NM_000249.4(MLH1):c.27G>A (p.Arg9=) rs759680369
NM_000249.4(MLH1):c.292G>C (p.Gly98Arg) rs267607725
NM_000249.4(MLH1):c.293G>A (p.Gly98Asp) rs863225382
NM_000249.4(MLH1):c.301G>A (p.Gly101Ser) rs267607726
NM_000249.4(MLH1):c.304G>A (p.Glu102Lys) rs63750453
NM_000249.4(MLH1):c.61G>T (p.Ala21Ser) rs2080897397
NM_000249.4(MLH1):c.779T>A (p.Leu260His) rs63751283
NM_000249.4(MLH1):c.83C>A (p.Pro28Gln) rs63750792
NM_000249.4(MLH1):c.911A>G (p.Asp304Gly) rs63750993
NM_000249.4(MLH1):c.931A>G (p.Lys311Glu) rs876658657
NM_000251.3(MSH2):c.1661+5G>T rs267607972
NM_000251.3(MSH2):c.1807G>C (p.Asp603His) rs63750657
NM_000251.3(MSH2):c.1862G>C (p.Arg621Pro) rs759263820
NM_000251.3(MSH2):c.1864C>G (p.Pro622Ala) rs63750280
NM_000251.3(MSH2):c.2005+3_2005+14del rs587779125
NM_000251.3(MSH2):c.2081T>C (p.Phe694Ser) rs1114167857
NM_000251.3(MSH2):c.2228C>T (p.Ser743Leu) rs63751155
NM_000251.3(MSH2):c.2275G>A (p.Gly759Arg) rs63749854
NM_000251.3(MSH2):c.2635-3C>G rs587779153
NM_000251.3(MSH2):c.524T>C (p.Leu175Pro) rs63751291
NM_000251.3(MSH2):c.797C>T (p.Ala266Val) rs587781745
NM_000255.4(MMUT):c.912-1G>A rs1561957527
NM_000256.3(MYBPC3):c.654+2T>C rs2142867623
NM_000256.3(MYBPC3):c.852-1G>T rs368121566
NM_000257.4(MYH7):c.2051T>C (p.Met684Thr) rs606231332
NM_000257.4(MYH7):c.2149G>A (p.Asp717Asn) rs1057524857
NM_000257.4(MYH7):c.2714G>C (p.Cys905Ser) rs730880757
NM_000257.4(MYH7):c.2804A>T (p.Glu935Val) rs730880761
NM_000260.4(MYO7A):c.1979G>T (p.Gly660Val) rs1555078946
NM_000260.4(MYO7A):c.3509A>G (p.Glu1170Gly) rs1555090196
NM_000260.4(MYO7A):c.3602G>A (p.Cys1201Tyr) rs117966637
NM_000260.4(MYO7A):c.5345G>C (p.Gly1782Ala) rs751242455
NM_000260.4(MYO7A):c.5824G>A (p.Gly1942Arg) rs111033192
NM_000260.4(MYO7A):c.6025G>A (p.Ala2009Thr) rs397516325
NM_000260.4(MYO7A):c.6041A>G (p.His2014Arg) rs2135762079
NM_000268.4(NF2):c.676-7T>G rs2518595186
NM_000271.5(NPC1):c.3134T>C (p.Leu1045Pro) rs893564568
NM_000271.5(NPC1):c.3754+3A>C rs1208252513
NM_000273.3(GPR143):c.248T>C (p.Leu83Pro) rs2518641943
NM_000275.3(OCA2):c.1378C>G (p.Leu460Val) rs748692597
NM_000275.3(OCA2):c.1922C>T (p.Ser641Leu) rs868238523
NM_000275.3(OCA2):c.1954T>A (p.Trp652Arg) rs886043514
NM_000275.3(OCA2):c.2383G>A (p.Gly795Arg)
NM_000275.3(OCA2):c.535A>G (p.Lys179Glu) rs1277911369
NM_000275.3(OCA2):c.646+1G>A rs1046172334
NM_000277.3(PAH):c.510-5T>A rs1875378128
NM_000277.3(PAH):c.568G>A (p.Val190Met) rs281865441
NM_000277.3(PAH):c.649T>C (p.Cys217Arg) rs62508718
NM_000277.3(PAH):c.912+3A>C rs281865450
NM_000282.4(PCCA):c.659C>A (p.Ala220Asp) rs1555396108
NM_000293.3(PHKB):c.594+1G>A rs2548342446
NM_000298.6(PKLR):c.1552C>A (p.Arg518Ser) rs139002629
NM_000298.6(PKLR):c.1670G>C (p.Gly557Ala) rs1674489086
NM_000303.3(PMM2):c.337C>A (p.Pro113Thr) rs765433263
NM_000303.3(PMM2):c.458T>G (p.Ile153Arg) rs150577656
NM_000312.4(PROC):c.548G>T (p.Cys183Phe) rs1284942525
NM_000314.8(PTEN):c.105G>A (p.Met35Ile) rs1554893782
NM_000314.8(PTEN):c.599T>C (p.Phe200Ser) rs786204867
NM_000321.3(RB1):c.1498+4A>T rs2138143230
NM_000322.5(PRPH2):c.595A>G (p.Asn199Asp) rs757988141
NM_000322.5(PRPH2):c.737G>C (p.Trp246Ser) rs1582764697
NM_000330.4(RS1):c.251C>G (p.Ser84Cys) rs1338396929
NM_000330.4(RS1):c.404G>C (p.Gly135Ala) rs61752152
NM_000335.5(SCN5A):c.2821_2822delinsAA (p.Ser941Asn) rs137854605
NM_000335.5(SCN5A):c.4134CAA[1] (p.Asn1379del) rs794728922
NM_000335.5(SCN5A):c.4393A>G (p.Ile1465Val) rs794728881
NM_000335.5(SCN5A):c.4434+5G>A rs1057520531
NM_000335.5(SCN5A):c.5123C>T (p.Thr1708Met) rs199473297
NM_000335.5(SCN5A):c.5131G>A (p.Gly1711Ser) rs199473298
NM_000335.5(SCN5A):c.5543A>G (p.His1848Arg) rs794728898
NM_000335.5(SCN5A):c.844C>T (p.Arg282Cys) rs199473082
NM_000350.3(ABCA4):c.1019A>C (p.Tyr340Ser) rs1191143782
NM_000350.3(ABCA4):c.1844T>C (p.Val615Ala) rs2101078285
NM_000350.3(ABCA4):c.2036A>T (p.Glu679Val) rs1553192420
NM_000350.3(ABCA4):c.2869C>A (p.Gln957Lys) rs398123338
NM_000350.3(ABCA4):c.2875A>T (p.Thr959Ser) rs368846708
NM_000350.3(ABCA4):c.3248T>A (p.Val1083Glu) rs1660531924
NM_000350.3(ABCA4):c.4128G>A (p.Gln1376=) rs1064797113
NM_000350.3(ABCA4):c.4532C>T (p.Pro1511Leu) rs886046564
NM_000350.3(ABCA4):c.4552A>G (p.Ser1518Gly) rs2523707283
NM_000350.3(ABCA4):c.4859A>T (p.Asn1620Ile) rs1659893012
NM_000350.3(ABCA4):c.5510C>T (p.Pro1837Leu) rs1571250077
NM_000350.3(ABCA4):c.6319C>A (p.Arg2107Ser) rs2297669
NM_000350.3(ABCA4):c.6379T>C (p.Ser2127Pro) rs2100993895
NM_000350.3(ABCA4):c.6386G>A (p.Ser2129Asn) rs1571242070
NM_000350.3(ABCA4):c.6788G>A (p.Arg2263Gln) rs281865407
NM_000352.6(ABCC8):c.2521C>G (p.Arg841Gly) rs1484689392
NM_000352.6(ABCC8):c.3551C>T (p.Ala1184Val) rs137852675
NM_000352.6(ABCC8):c.4055G>A (p.Arg1352His) rs28936370
NM_000352.6(ABCC8):c.917G>T (p.Arg306Leu) rs1409900082
NM_000358.3(TGFBI):c.1501C>A (p.Pro501Thr) rs121909212
NM_000359.3(TGM1):c.1571G>T (p.Gly524Val) rs2502494955
NM_000359.3(TGM1):c.450CCT[2] (p.Leu153del) rs746008257
NM_000360.4(TH):c.90+13G>T rs77140743
NM_000363.5(TNNI3):c.150+1G>C rs2085732359
NM_000363.5(TNNI3):c.282+2T>A rs2085728001
NM_000368.5(TSC1):c.2042-5A>G rs118203627
NM_000371.4(TTR):c.232C>G (p.Leu78Val) rs2510933010
NM_000371.4(TTR):c.259G>C (p.Gly87Arg) rs11541799
NM_000372.5(TYR):c.1234C>G (p.Pro412Ala) rs797046081
NM_000372.5(TYR):c.604C>T (p.His202Tyr) rs749096874
NM_000381.4(MID1):c.1943T>C (p.Leu648Pro) rs2518959444
NM_000383.4(AIRE):c.43C>T (p.Arg15Cys) rs179363875
NM_000391.4(TPP1):c.182T>C (p.Leu61Pro) rs1060502179
NM_000404.4(GLB1):c.1768C>A (p.Arg590Ser) rs794727165
NM_000404.4(GLB1):c.971A>G (p.Tyr324Cys) rs977975596
NM_000424.4(KRT5):c.506G>C (p.Arg169Pro) rs60720877
NM_000428.3(LTBP2):c.3652+1G>C rs773910322
NM_000434.4(NEU1):c.839G>A (p.Arg280Gln) rs2481395324
NM_000435.3(NOTCH3):c.1345C>T (p.Arg449Cys) rs762734007
NM_000441.2(SLC26A4):c.1228A>G (p.Thr410Ala) rs1286976213
NM_000441.2(SLC26A4):c.1308_1313del (p.Ala437_Leu438del) rs111033207
NM_000441.2(SLC26A4):c.1574C>T (p.Pro525Leu) rs765197819
NM_000441.2(SLC26A4):c.1670G>A (p.Gly557Asp) rs939755872
NM_000441.2(SLC26A4):c.2090A>C (p.Asp697Ala) rs111033443
NM_000441.2(SLC26A4):c.347G>A (p.Gly116Asp) rs2129311246
NM_000441.2(SLC26A4):c.358G>C (p.Ala120Pro) rs2129311252
NM_000444.6(PHEX):c.1046A>G (p.Asp349Gly) rs2147047501
NM_000444.6(PHEX):c.1313T>C (p.Leu438Ser) rs1057517904
NM_000444.6(PHEX):c.1382C>A (p.Thr461Lys) rs374873766
NM_000444.6(PHEX):c.1960T>A (p.Phe654Ile) rs1935508894
NM_000444.6(PHEX):c.2018T>C (p.Leu673Pro) rs1935549921
NM_000444.6(PHEX):c.2147G>C (p.Arg716Thr) rs1936363158
NM_000444.6(PHEX):c.304G>T (p.Gly102Trp) rs1927580756
NM_000444.6(PHEX):c.499T>C (p.Trp167Arg) rs1064796435
NM_000444.6(PHEX):c.914T>G (p.Leu305Arg) rs1064796929
NM_000455.5(STK11):c.458C>A (p.Ala153Asp) rs1555737824
NM_000455.5(STK11):c.854T>C (p.Leu285Pro) rs1555738724
NM_000458.4(HNF1B):c.704G>A (p.Arg235Gln) rs2033752564
NM_000463.3(UGT1A1):c.1463C>T (p.Ser488Phe) rs72551360
NM_000465.4(BARD1):c.2001+3A>G rs1553612461
NM_000466.3(PEX1):c.3077T>C (p.Leu1026Pro) rs954814470
NM_000478.6(ALPL):c.1000G>A (p.Gly334Ser) rs769955594
NM_000478.6(ALPL):c.1004G>C (p.Arg335Thr) rs1057524727
NM_000478.6(ALPL):c.1099T>A (p.Ser367Thr) rs2545342410
NM_000478.6(ALPL):c.1143C>G (p.His381Gln) rs749419329
NM_000478.6(ALPL):c.1162T>G (p.Tyr388Asp) rs1644722881
NM_000478.6(ALPL):c.1189+5del rs1208855163
NM_000478.6(ALPL):c.188G>T (p.Gly63Val) rs1490668038
NM_000478.6(ALPL):c.436G>C (p.Glu146Gln) rs138587317
NM_000478.6(ALPL):c.457T>C (p.Trp153Arg) rs1644512630
NM_000478.6(ALPL):c.620A>C (p.Gln207Pro) rs121918004
NM_000478.6(ALPL):c.671A>T (p.Lys224Ile) rs2545317046
NM_000478.6(ALPL):c.746G>C (p.Gly249Ala) rs121918018
NM_000486.6(AQP2):c.450T>A (p.Asp150Glu) rs770932012
NM_000488.4(SERPINC1):c.1141T>C (p.Ser381Pro) rs121909565
NM_000488.4(SERPINC1):c.536T>C (p.Phe179Ser) rs483352847
NM_000492.4(CFTR):c.1369G>C (p.Ala457Pro) rs1554382664
NM_000492.4(CFTR):c.1516A>C (p.Ile506Leu) rs1800091
NM_000492.4(CFTR):c.1763A>T (p.Glu588Val) rs397508297
NM_000492.4(CFTR):c.276A>T (p.Glu92Asp) rs397508432
NM_000492.4(CFTR):c.3038C>T (p.Pro1013Leu) rs193922516
NM_000492.4(CFTR):c.3061C>T (p.Pro1021Ser) rs397508491
NM_000492.4(CFTR):c.325T>A (p.Tyr109Asn) rs397508522
NM_000492.4(CFTR):c.3262A>G (p.Asn1088Asp) rs397508523
NM_000492.4(CFTR):c.328G>T (p.Asp110Tyr) rs113993958
NM_000492.4(CFTR):c.349C>G (p.Arg117Gly) rs77834169
NM_000492.4(CFTR):c.3717+5G>A rs193922520
NM_000492.4(CFTR):c.422C>A (p.Ala141Asp) rs397508700
NM_000492.4(CFTR):c.4433C>G (p.Thr1478Arg) rs753173837
NM_000492.4(CFTR):c.558C>G (p.Asn186Lys) rs397508753
NM_000512.5(GALNS):c.107T>C (p.Leu36Pro) rs755832705
NM_000512.5(GALNS):c.115G>T (p.Asp39Tyr) rs2143013504
NM_000512.5(GALNS):c.1173GGC[1] (p.Ala393del) rs1567519221
NM_000512.5(GALNS):c.118G>A (p.Asp40Asn) rs1967935603
NM_000512.5(GALNS):c.1201C>T (p.His401Tyr) rs2142993806
NM_000512.5(GALNS):c.121-7C>G rs1004936255
NM_000512.5(GALNS):c.1450C>T (p.Pro484Ser) rs1204485789
NM_000512.5(GALNS):c.1474G>A (p.Ala492Thr) rs760300454
NM_000512.5(GALNS):c.286G>T (p.Gly96Cys) rs2143005086
NM_000512.5(GALNS):c.289T>G (p.Phe97Val) rs2143005083
NM_000512.5(GALNS):c.313A>G (p.Arg105Gly) rs2143005072
NM_000512.5(GALNS):c.374C>A (p.Pro125Gln) rs746949976
NM_000512.5(GALNS):c.464G>A (p.Gly155Glu) rs2143002437
NM_000512.5(GALNS):c.547G>T (p.Asp183Tyr) rs2143002331
NM_000512.5(GALNS):c.700G>A (p.Ala234Thr) rs368603508
NM_000512.5(GALNS):c.920T>C (p.Leu307Pro) rs2142999202
NM_000516.7(GNAS):c.502G>A (p.Glu168Lys) rs2146210724
NM_000516.7(GNAS):c.569A>G (p.Tyr190Cys) rs2517226164
NM_000516.7(GNAS):c.883G>T (p.Asp295Tyr) rs2146291027
NM_000518.5(HBB):c.*132C>T rs1420779550
NM_000518.5(HBB):c.93-30_96delinsGTCCCTTGGGCTGTTTTCCTACCCTCAGATTA rs1554918013
NM_000520.6(HEXA):c.1074-7_1074-3del rs759219683
NM_000520.6(HEXA):c.996C>A (p.Asn332Lys) rs2542520592
NM_000525.4(KCNJ11):c.515C>T (p.Ala172Val) rs1426834688
NM_000525.4(KCNJ11):c.556C>T (p.His186Tyr) rs2133380076
NM_000527.5(LDLR):c.-188C>T rs878854023
NM_000527.5(LDLR):c.1003G>C (p.Gly335Arg) rs544453230
NM_000527.5(LDLR):c.1004G>T (p.Gly335Val) rs869320650
NM_000527.5(LDLR):c.1186+5G>A rs879254821
NM_000527.5(LDLR):c.1222G>C (p.Glu408Gln) rs137943601
NM_000527.5(LDLR):c.1291G>C (p.Ala431Pro) rs28942079
NM_000527.5(LDLR):c.1294C>G (p.Leu432Val) rs730882100
NM_000527.5(LDLR):c.1366C>T (p.Leu456Phe) rs761004553
NM_000527.5(LDLR):c.1403T>A (p.Val468Asp) rs879254890
NM_000527.5(LDLR):c.1424C>T (p.Ala475Val) rs879254897
NM_000527.5(LDLR):c.1441G>A (p.Val481Met) rs879254903
NM_000527.5(LDLR):c.1555C>T (p.Pro519Ser) rs875989923
NM_000527.5(LDLR):c.1567G>C (p.Val523Leu) rs28942080
NM_000527.5(LDLR):c.1575T>A (p.Asp525Glu) rs763884010
NM_000527.5(LDLR):c.1577C>A (p.Pro526His) rs879254944
NM_000527.5(LDLR):c.1577C>T (p.Pro526Leu) rs879254944
NM_000527.5(LDLR):c.1592T>C (p.Met531Thr) rs779913921
NM_000527.5(LDLR):c.1646G>C (p.Gly549Ala) rs28941776
NM_000527.5(LDLR):c.1694G>A (p.Gly565Asp) rs28942082
NM_000527.5(LDLR):c.1828T>C (p.Ser610Pro) rs2077475503
NM_000527.5(LDLR):c.1946C>T (p.Pro649Leu) rs879255081
NM_000527.5(LDLR):c.1957G>T (p.Val653Phe) rs879255085
NM_000527.5(LDLR):c.1961T>C (p.Leu654Pro) rs2077526349
NM_000527.5(LDLR):c.2113G>T (p.Ala705Ser) rs193922570
NM_000527.5(LDLR):c.2479G>T (p.Val827Phe) rs137853964
NM_000527.5(LDLR):c.44T>C (p.Leu15Pro) rs879254390
NM_000527.5(LDLR):c.631C>G (p.His211Asp) rs771917370
NM_000527.5(LDLR):c.679G>C (p.Asp227His) rs2077282480
NM_000527.5(LDLR):c.895G>T (p.Ala299Ser) rs879254711
NM_000527.5(LDLR):c.920A>C (p.Asp307Ala) rs1555803908
NM_000528.4(MAN2B1):c.1055T>C (p.Leu352Pro) rs864621980
NM_000528.4(MAN2B1):c.1358C>T (p.Ser453Phe) rs864621984
NM_000528.4(MAN2B1):c.2747G>A (p.Arg916His) rs758765126
NM_000528.4(MAN2B1):c.599A>T (p.His200Leu) rs864621978
NM_000528.4(MAN2B1):c.788C>T (p.Pro263Leu) rs746808159
NM_000531.6(OTC):c.1027A>G (p.Thr343Ala) rs2519986961
NM_000531.6(OTC):c.1063T>G (p.Ter355Gly) rs2147349974
NM_000531.6(OTC):c.622G>T (p.Ala208Ser) rs72558416
NM_000532.5(PCCB):c.1127G>T (p.Arg376Leu) rs142982097
NM_000532.5(PCCB):c.1313C>A (p.Ala438Asp) rs2529974111
NM_000532.5(PCCB):c.319G>A (p.Val107Met) rs1553774114
NM_000532.5(PCCB):c.611C>T (p.Ala204Val) rs760499581
NM_000532.5(PCCB):c.682C>G (p.Pro228Ala) rs1052979420
NM_000532.5(PCCB):c.749A>G (p.His250Arg) rs1933813724
NM_000535.7(PMS2):c.1144+5G>C rs1783506726
NM_000535.7(PMS2):c.903+1G>A rs1554300689
NM_000539.3(RHO):c.677T>C (p.Leu226Pro) rs2084786958
NM_000539.3(RHO):c.755G>C (p.Arg252Pro) rs765438313
NM_000540.3(RYR1):c.10229C>G (p.Pro3410Arg) rs769196275
NM_000540.3(RYR1):c.10501G>T (p.Asp3501Tyr) rs763259167
NM_000540.3(RYR1):c.11132C>G (p.Thr3711Arg) rs375915752
NM_000540.3(RYR1):c.11315G>T (p.Arg3772Leu) rs193922839
NM_000540.3(RYR1):c.11608+1G>C rs1354044963
NM_000540.3(RYR1):c.13724A>C (p.Asn4575Thr) rs1568591803
NM_000540.3(RYR1):c.13909A>C (p.Thr4637Pro) rs118192166
NM_000540.3(RYR1):c.14051T>C (p.Phe4684Ser) rs193922864
NM_000540.3(RYR1):c.14386T>C (p.Tyr4796His) rs1568604251
NM_000540.3(RYR1):c.1440+2T>G rs1555767403
NM_000540.3(RYR1):c.14581C>A (p.Arg4861Ser) rs118192181
NM_000540.3(RYR1):c.14647-3_14647del rs1568611362
NM_000540.3(RYR1):c.14680G>C (p.Ala4894Pro) rs193922888
NM_000540.3(RYR1):c.14804-1G>T rs193922894
NM_000540.3(RYR1):c.165+1G>A rs1388577237
NM_000540.3(RYR1):c.1859T>A (p.Ile620Asn) rs1568450514
NM_000540.3(RYR1):c.2044C>T (p.Arg682Trp) rs776252106
NM_000540.3(RYR1):c.212C>A (p.Ser71Tyr) rs118192113
NM_000540.3(RYR1):c.2682G>A (p.Pro894=) rs919322708
NM_000540.3(RYR1):c.3291C>T (p.Gly1097=) rs1234999215
NM_000540.3(RYR1):c.3799C>A (p.Pro1267Thr) rs564495912
NM_000540.3(RYR1):c.3800C>A (p.Pro1267His) rs150495044
NM_000540.3(RYR1):c.4294-1G>C rs2514176735
NM_000540.3(RYR1):c.4935-1G>C rs2514225496
NM_000540.3(RYR1):c.5989G>A (p.Glu1997Lys) rs1366464512
NM_000540.3(RYR1):c.6502G>C (p.Val2168Leu) rs118192176
NM_000540.3(RYR1):c.6707T>G (p.Leu2236Arg) rs1969830618
NM_000540.3(RYR1):c.7035C>G (p.Ser2345Arg) rs1448949048
NM_000540.3(RYR1):c.7298T>C (p.Leu2433Pro) rs1600822174
NM_000540.3(RYR1):c.7303C>T (p.Arg2435Cys) rs1970033550
NM_000540.3(RYR1):c.742G>T (p.Gly248Trp) rs1801086
NM_000540.3(RYR1):c.7777C>G (p.Arg2593Gly) rs756685891
NM_000540.3(RYR1):c.7836-2A>G rs1406317092
NM_000540.3(RYR1):c.8067+1G>A rs2514351792
NM_000540.3(RYR1):c.9149T>A (p.Val3050Asp) rs1157851269
NM_000540.3(RYR1):c.9554+1G>A rs2514419722
NM_000540.3(RYR1):c.9978C>A (p.Asn3326Lys) rs367543057
NM_000543.5(SMPD1):c.995C>T (p.Pro332Leu) rs202081954
NM_000545.8(HNF1A):c.1136C>A (p.Pro379His) rs371717826
NM_000546.6(TP53):c.490A>G (p.Lys164Glu) rs879254249
NM_000546.6(TP53):c.560-9T>A rs794727781
NM_000546.6(TP53):c.655C>T (p.Pro219Ser) rs879253894
NM_000546.6(TP53):c.830G>A (p.Cys277Tyr) rs763098116
NM_000548.5(TSC2):c.1865G>C (p.Arg622Pro) rs45517206
NM_000548.5(TSC2):c.2117T>C (p.Leu706Pro) rs2151316174
NM_000548.5(TSC2):c.910T>C (p.Trp304Arg) rs397515108
NM_000553.6(WRN):c.1350+1G>T rs752202315
NM_000553.6(WRN):c.3819+1G>C rs748618811
NM_000709.4(BCKDHA):c.859C>G (p.Arg287Gly) rs764247545
NM_000709.4(BCKDHA):c.981G>C (p.Glu327Asp) rs2039382789
NM_000782.5(CYP24A1):c.304G>C (p.Gly102Arg) rs1568976122
NM_000784.4(CYP27A1):c.1209C>G (p.Asn403Lys) rs587778781
NM_000784.4(CYP27A1):c.1436G>A (p.Arg479His) rs199638075
NM_000814.6(GABRB3):c.862A>G (p.Thr288Ala) rs1595440443
NM_000900.5(MGP):c.56G>A (p.Cys19Tyr) rs1555094473
NM_001003800.2(BICD2):c.2042C>T (p.Ser681Leu) rs1853375829
NM_001005361.3(DNM2):c.1072G>A (p.Gly358Arg) rs267606772
NM_001005361.3(DNM2):c.1564C>T (p.Arg522Cys) rs2072577342
NM_001005361.3(DNM2):c.1678G>A (p.Glu560Lys) rs879254086
NM_001005373.4(LRSAM1):c.175-2A>T rs1035054313
NM_001035.3(RYR2):c.13822C>T (p.Arg4608Trp) rs794728799
NM_001035.3(RYR2):c.14482G>A (p.Gly4828Arg) rs1402571360
NM_001042492.3(NF1):c.1062+2dup rs2066510417
NM_001042492.3(NF1):c.1260+5G>C rs1060500253
NM_001042492.3(NF1):c.1649T>C (p.Leu550Pro) rs886052798
NM_001042492.3(NF1):c.2894T>A (p.Ile965Lys) rs1555614438
NM_001042492.3(NF1):c.2915T>C (p.Leu972Pro) rs1597716348
NM_001042492.3(NF1):c.3118A>G (p.Lys1040Glu) rs1555614619
NM_001042492.3(NF1):c.3545T>C (p.Val1182Ala) rs2067142076
NM_001042492.3(NF1):c.3596C>G (p.Thr1199Arg) rs1555615047
NM_001042492.3(NF1):c.3831C>T (p.Gly1277=) rs1597722611
NM_001042492.3(NF1):c.4226T>G (p.Met1409Arg) rs1555618508
NM_001042492.3(NF1):c.4786G>C (p.Ala1596Pro) rs2151470213
NM_001042492.3(NF1):c.479+5G>T rs1567818033
NM_001042492.3(NF1):c.4832G>A (p.Arg1611Gln) rs876659197
NM_001042492.3(NF1):c.556G>T (p.Asp186Tyr) rs1567820765
NM_001042492.3(NF1):c.5625TCT[1] (p.Leu1877del) rs1131691081
NM_001042492.3(NF1):c.5867T>G (p.Leu1956Arg) rs1597840087
NM_001042492.3(NF1):c.5924T>C (p.Leu1975Pro) rs1555534411
NM_001042492.3(NF1):c.6119C>T (p.Ser2040Phe) rs2069671270
NM_001042492.3(NF1):c.6374T>C (p.Leu2125Pro) rs1597843129
NM_001042492.3(NF1):c.6642+18A>G rs1555534893
NM_001042492.3(NF1):c.7010T>G (p.Leu2337Arg) rs1555535179
NM_001042492.3(NF1):c.7970+4_7970+7del rs1064794279
NM_001042492.3(NF1):c.958G>C (p.Ala320Pro) rs2066507272
NM_001046.3(SLC12A2):c.757-2A>G rs1189842719
NM_001048174.2(MUTYH):c.1435-2A>G rs1553123105
NM_001048174.2(MUTYH):c.1466_1467delinsAG (p.Cys489Ter) rs587782716
NM_001048174.2(MUTYH):c.704G>C (p.Trp235Ser) rs1570406302
NM_001077350.3(NPRL3):c.980C>T (p.Pro327Leu) rs1898841618
NM_001079802.2(FKTN):c.919C>G (p.Arg307Gly) rs267606814
NM_001079866.2(BCS1L):c.-49-539T>A rs386833855
NM_001079866.2(BCS1L):c.295C>T (p.Pro99Ser) rs2469868875
NM_001080.3(ALDH5A1):c.1015-3C>G rs2127387935
NM_001089.3(ABCA3):c.1112-20G>A rs746701685
NM_001089.3(ABCA3):c.3563A>G (p.Tyr1188Cys) rs2505622044
NM_001106.4(ACVR2B):c.1147C>T (p.Arg383Cys) rs1559655653
NM_001114753.3(ENG):c.1121_1122delinsGC (p.Lys374Ser) rs2131885751
NM_001114753.3(ENG):c.1160T>C (p.Leu387Pro) rs1564453623
NM_001114753.3(ENG):c.1807G>A (p.Gly603Arg) rs1830302008
NM_001126108.2(SLC12A3):c.1519C>T (p.Arg507Cys)
NM_001126108.2(SLC12A3):c.2191G>T (p.Gly731Trp) rs752101663
NM_001126108.2(SLC12A3):c.404G>A (p.Arg135His) rs769047841
NM_001126108.2(SLC12A3):c.533C>G (p.Ser178Trp) rs772589653
NM_001127222.2(CACNA1A):c.593G>A (p.Arg198Gln) rs797045424
NM_001127644.2(GABRA1):c.857-2A>G rs1313965409
NM_001128425.2(MUTYH):c.36+2T>C rs2149248633
NM_001134407.3(GRIN2A):c.2147C>A (p.Ala716Asp) rs1057519552
NM_001142800.2(EYS):c.2023+5G>T rs1287889008
NM_001142800.2(EYS):c.7228G>T (p.Ala2410Ser) rs915505702
NM_001164508.2(NEB):c.23929-2A>C rs1553569122
NM_001164508.2(NEB):c.3127_3129dup (p.Asn1043dup) rs1288870299
NM_001165963.4(SCN1A):c.3879+5G>T rs796052999
NM_001165963.4(SCN1A):c.4775T>C (p.Leu1592Pro) rs1689684958
NM_001171.6(ABCC6):c.2293C>G (p.Arg765Gly) rs776513864
NM_001195263.2(PDZD7):c.2796_2798del (p.Arg933del) rs770336804
NM_001205293.3(CACNA1E):c.586C>T (p.Arg196Trp) rs1651121815
NM_001243279.3(ACSF3):c.1673G>C (p.Arg558Pro) rs140328142
NM_001256071.3(RNF213):c.12185G>A (p.Arg4062Gln) rs1555676035
NM_001256071.3(RNF213):c.14566T>C (p.Cys4856Arg) rs2080231811
NM_001256317.3(TMPRSS3):c.1028G>T (p.Trp343Leu) rs540715620
NM_001256317.3(TMPRSS3):c.1029G>C (p.Trp343Cys) rs2517107344
NM_001256317.3(TMPRSS3):c.1149G>T (p.Met383Ile) rs727503492
NM_001256317.3(TMPRSS3):c.1303C>T (p.Arg435Cys) rs565348874
NM_001256317.3(TMPRSS3):c.274T>C (p.Cys92Arg)
NM_001256789.3(CACNA1F):c.245G>A (p.Arg82Gln) rs2065880189
NM_001258392.3(CLPB):c.1610A>G (p.Tyr537Cys) rs150857620
NM_001267550.2(TTN):c.19180del (p.Val6394fs) rs1560763939
NM_001267550.2(TTN):c.27329-1del rs2528906126
NM_001276345.2(TNNT2):c.286G>A (p.Asp96Asn) rs1553282768
NM_001277115.2(DNAH11):c.495+1G>T rs377623604
NM_001283009.2(RTEL1):c.1266+3_1266+80del rs2090574236
NM_001287.6(CLCN7):c.689A>G (p.Lys230Arg) rs2142382909
NM_001289125.3(IFNAR2):c.157T>C (p.Ser53Pro) rs1987287426
NM_001298.3(CNGA3):c.1229G>T (p.Arg410Leu) rs373666055
NM_001321120.2(TBX4):c.749G>A (p.Arg250Gln) rs1555883469
NM_001355436.2(SPTB):c.154C>T (p.Arg52Trp) rs1594796374
NM_001360.3(DHCR7):c.1210C>A (p.Arg404Ser) rs61757582
NM_001360.3(DHCR7):c.1210C>G (p.Arg404Gly) rs61757582
NM_001360.3(DHCR7):c.1337G>C (p.Arg446Pro) rs751604696
NM_001360.3(DHCR7):c.1342G>C (p.Glu448Gln) rs80338864
NM_001360.3(DHCR7):c.1406G>C (p.Arg469Pro) rs201150384
NM_001360.3(DHCR7):c.782A>G (p.Glu261Gly) rs1406131499
NM_001360.3(DHCR7):c.88G>A (p.Gly30Ser) rs1222259994
NM_001360.3(DHCR7):c.907G>T (p.Gly303Trp) rs142808899
NM_001360.3(DHCR7):c.91C>T (p.Arg31Cys) rs367585401
NM_001367721.1(CASK):c.616G>A (p.Gly206Ser) rs2067099763
NM_001369.3(DNAH5):c.11168T>A (p.Leu3723Gln) rs1554033862
NM_001369.3(DNAH5):c.12779A>T (p.Asp4260Val) rs1744309029
NM_001369.3(DNAH5):c.7579_7590del (p.Thr2527_Asp2530del) rs1554058577
NM_001369268.1(ACAN):c.1460C>T (p.Thr487Ile) rs2141585529
NM_001369369.1(FOXN1):c.699+1G>T rs1555609768
NM_001369369.1(FOXN1):c.928-2A>G rs2151497815
NM_001370259.2(MEN1):c.1185+1G>A rs1941661315
NM_001370259.2(MEN1):c.430T>G (p.Phe144Val) rs1114167543
NM_001370658.1(BTD):c.1309G>T (p.Val437Leu) rs146600671
NM_001370658.1(BTD):c.806C>T (p.Ala269Val) rs1057520533
NM_001375524.1(TRRAP):c.3140G>A (p.Arg1047His) rs2116495297
NM_001377.3(DYNC2H1):c.5771A>T (p.Asp1924Val) rs1565368733
NM_001379500.1(COL18A1):c.2214+1G>C rs151228115
NM_001379500.1(COL18A1):c.3620C>T (p.Ser1207Phe) rs1085307837
NM_001382391.1(CSPP1):c.3330+2T>C rs527372531
NM_001384474.1(LOXHD1):c.3281A>G (p.Asp1094Gly) rs543098936
NM_001384474.1(LOXHD1):c.610+2T>A rs2511978435
NM_001386393.1(PANK2):c.887A>T (p.Lys296Ile) rs763608502
NM_001414.4(EIF2B1):c.115+1G>T
NM_001692.4(ATP6V1B1):c.367+1G>A rs1343871627
NM_001844.5(COL2A1):c.3925G>A (p.Asp1309Asn) rs2540097718
NM_001844.5(COL2A1):c.4135C>T (p.Arg1379Cys) rs141951587
NM_001845.6(COL4A1):c.1952_1954del (p.Glu651del) rs751234195
NM_001845.6(COL4A1):c.3574G>C (p.Gly1192Arg) rs2139156269
NM_001845.6(COL4A1):c.3905G>C (p.Gly1302Ala) rs1877385413
NM_001845.6(COL4A1):c.607G>A (p.Gly203Arg) rs1057519191
NM_001846.4(COL4A2):c.1287_1339+1dup rs1566539998
NM_001849.4(COL6A2):c.403G>A (p.Asp135Asn) rs983938730
NM_001854.4(COL11A1):c.4086+5G>A rs2524454786
NM_001875.5(CPS1):c.1307G>A (p.Gly436Asp) rs1553511785
NM_001876.4(CPT1A):c.1367C>T (p.Ser456Leu) rs1478167106
NM_001876.4(CPT1A):c.1493A>G (p.Tyr498Cys) rs80356791
NM_001876.4(CPT1A):c.693+1G>A rs1055176086
NM_001903.5(CTNNA1):c.105+1G>C rs374313094
NM_001903.5(CTNNA1):c.965C>T (p.Ser322Leu) rs1554085478
NM_001918.5(DBT):c.1126C>T (p.Arg376Cys) rs768389398
NM_001999.4(FBN2):c.3437A>G (p.Tyr1146Cys) rs1750918319
NM_002180.3(IGHMBP2):c.1523C>T (p.Ser508Leu) rs754465226
NM_002181.4(IHH):c.949G>A (p.Val317Met) rs886044074
NM_002185.5(IL7R):c.135G>C (p.Gln45His) rs200464578
NM_002225.5(IVD):c.467G>C (p.Gly156Ala) rs1221254988
NM_002225.5(IVD):c.848A>G (p.Glu283Gly) rs1314850102
NM_002230.4(JUP):c.468G>A (p.Pro156=) rs886037753
NM_002317.7(LOX):c.1044T>A (p.Ser348Arg) rs1561417568
NM_002335.4(LRP5):c.425G>C (p.Arg142Pro) rs368198391
NM_002381.5(MATN3):c.653A>G (p.Tyr218Cys) rs1673092558
NM_002437.5(MPV17):c.190C>T (p.Pro64Ser) rs2465683495
NM_002439.5(MSH3):c.2318+5del rs779491624
NM_002474.3(MYH11):c.3728T>C (p.Leu1243Pro) rs1555554139
NM_002834.5(PTPN11):c.782T>G (p.Leu261Arg) rs765642157
NM_002863.5(PYGL):c.1518G>A (p.Glu506=) rs748519147
NM_002880.4(RAF1):c.1193G>T (p.Arg398Leu) rs730880382
NM_002972.4(SBF1):c.897+1G>A rs374026247
NM_003001.5(SDHC):c.160C>A (p.Pro54Thr) rs1553262444
NM_003060.4(SLC22A5):c.1064C>T (p.Ser355Leu) rs1385634398
NM_003060.4(SLC22A5):c.1346A>G (p.Tyr449Cys) rs1183338050
NM_003060.4(SLC22A5):c.55C>A (p.Arg19Ser) rs1319889867
NM_003242.6(TGFBR2):c.1066C>T (p.Arg356Trp) rs199660234
NM_003242.6(TGFBR2):c.1168G>A (p.Asp390Asn) rs2125436704
NM_003242.6(TGFBR2):c.1275G>A (p.Met425Ile) rs1699391960
NM_003242.6(TGFBR2):c.1526G>T (p.Gly509Val) rs863223853
NM_003242.6(TGFBR2):c.869A>G (p.Glu290Gly) rs1575157782
NM_003322.6(TULP1):c.961T>G (p.Tyr321Asp) rs794726991
NM_003361.4(UMOD):c.533G>C (p.Arg178Pro) rs1228791562
NM_003476.5(CSRP3):c.457_458del (p.Leu154fs) rs748393033
NM_003482.4(KMT2D):c.10595T>C (p.Ile3532Thr) rs1943100257
NM_003482.4(KMT2D):c.15565G>A (p.Gly5189Arg) rs1555185701
NM_003491.4(NAA10):c.10C>G (p.Arg4Gly) rs2148537151
NM_003742.4(ABCB11):c.1409G>T (p.Arg470Leu) rs1463057954
NM_003742.4(ABCB11):c.1444G>A (p.Asp482Asn) rs1558897179
NM_003742.4(ABCB11):c.1708G>T (p.Ala570Ser) rs886043807
NM_003907.3(EIF2B5):c.166T>G (p.Phe56Val) rs113994043
NM_003907.3(EIF2B5):c.722G>A (p.Arg241Gln) rs1713453539
NM_003998.4(NFKB1):c.1210+1G>A rs2149203552
NM_004004.6(GJB2):c.101T>G (p.Met34Arg) rs35887622
NM_004004.6(GJB2):c.161A>G (p.Asn54Ser) rs2137308512
NM_004004.6(GJB2):c.187G>A (p.Val63Met) rs370696868
NM_004004.6(GJB2):c.196G>T (p.Asp66Tyr) rs104894403
NM_004004.6(GJB2):c.284T>C (p.Val95Ala) rs1250849257
NM_004004.6(GJB2):c.35G>A (p.Gly12Asp) rs1801002
NM_004004.6(GJB2):c.380G>T (p.Arg127Leu) rs111033196
NM_004004.6(GJB2):c.532G>T (p.Val178Leu) rs1275901105
NM_004004.6(GJB2):c.560A>G (p.Glu187Gly) rs1451982228
NM_004004.6(GJB2):c.585G>T (p.Met195Ile) rs570552952
NM_004046.6(ATP5F1A):c.1037C>T (p.Ser346Phe) rs2144178477
NM_004092.4(ECHS1):c.412G>A (p.Ala138Thr) rs2493842342
NM_004183.4(BEST1):c.568A>T (p.Asn190Tyr) rs2541372399
NM_004370.6(COL12A1):c.6067+1G>A rs1766265062
NM_004408.4(DNM1):c.718_720del (p.Lys240del) rs2538984991
NM_004444.5(EPHB4):c.2233A>G (p.Asn745Asp) rs1584654433
NM_004444.5(EPHB4):c.2459C>T (p.Pro820Leu) rs1584653650
NM_004444.5(EPHB4):c.2590C>T (p.Arg864Trp) rs769965440
NM_004606.5(TAF1):c.3648A>G (p.Gln1216=) rs2034990430
NM_004614.5(TK2):c.415G>T (p.Ala139Ser) rs138479499
NM_004646.4(NPHS1):c.1570G>A (p.Ala524Thr) rs2513774296
NM_004656.4(BAP1):c.535C>T (p.Arg179Trp) rs910211860
NM_004700.4(KCNQ4):c.825G>C (p.Trp275Cys) rs956666801
NM_004700.4(KCNQ4):c.860G>T (p.Gly287Val) rs2148320011
NM_004817.4(TJP2):c.1056+2T>C rs1278244243
NM_004818.3(DDX23):c.2264C>T (p.Thr755Met) rs1938372282
NM_004820.5(CYP7B1):c.1460dup (p.Leu487fs) rs776075679
NM_004972.4(JAK2):c.1691G>A (p.Arg564Gln) rs368927897
NM_004999.4(MYO6):c.3137+1G>A rs200713129
NM_005051.3(QARS1):c.1615-2A>T rs369802930
NM_005249.5(FOXG1):c.701C>T (p.Ser234Phe) rs1555321334
NM_005267.5(GJA8):c.200A>G (p.Asp67Gly) rs2149015482
NM_005450.6(NOG):c.125C>T (p.Pro42Leu) rs1018505000
NM_005548.3(KARS1):c.1486T>C (p.Cys496Arg) rs776736207
NM_005609.4(PYGM):c.1151C>T (p.Ala384Val) rs1465752595
NM_005732.4(RAD50):c.3639del (p.Arg1214fs) rs1554101172
NM_005732.4(RAD50):c.3753-5T>A rs1581024884
NM_005732.4(RAD50):c.3763del (p.Ser1255fs) rs760621534
NM_005732.4(RAD50):c.3799dup (p.Ile1267fs) rs1554101324
NM_005732.4(RAD50):c.3806_3807del (p.His1269fs) rs1085307088
NM_005857.5(ZMPSTE24):c.951_954+2del rs747563189
NM_005861.4(STUB1):c.832del (p.Glu278fs) rs1555475529
NM_005902.4(SMAD3):c.1268G>A (p.Ser423Asn) rs1555414503
NM_005902.4(SMAD3):c.371C>T (p.Pro124Leu) rs886039050
NM_005902.4(SMAD3):c.607+1G>T rs1060500771
NM_005902.4(SMAD3):c.788C>T (p.Pro263Leu) rs387906855
NM_005957.5(MTHFR):c.1228_1242del (p.Ser410_Lys414del) rs1297161027
NM_006005.3(WFS1):c.1289C>T (p.Ser430Leu) rs1235562712
NM_006005.3(WFS1):c.1922C>A (p.Thr641Lys) rs376626985
NM_006005.3(WFS1):c.2311G>T (p.Asp771Tyr) rs534067035
NM_006005.3(WFS1):c.529C>T (p.Arg177Cys) rs760631912
NM_006031.6(PCNT):c.9701-2A>G rs778234498
NM_006031.6(PCNT):c.9701-2A>T rs778234498
NM_006147.4(IRF6):c.911T>C (p.Leu304Pro) rs1064793154
NM_006147.4(IRF6):c.961G>A (p.Val321Met) rs2102536882
NM_006204.4(PDE6C):c.2141T>A (p.Ile714Asn) rs1064797148
NM_006231.4(POLE):c.1021-26_1045delinsGTTCTACACC rs1555229232
NM_006231.4(POLE):c.205-2A>G rs2043148194
NM_006231.4(POLE):c.4149+2T>C rs1064796760
NM_006231.4(POLE):c.4290+1G>A rs1565940214
NM_006231.4(POLE):c.5378+1G>T rs747165215
NM_006231.4(POLE):c.5552+1G>A rs1555221894
NM_006231.4(POLE):c.5553-1G>A rs1064796152
NM_006231.4(POLE):c.6136+1G>T rs1593708662
NM_006445.4(PRPF8):c.6938A>G (p.His2313Arg) rs1555550045
NM_006516.4(SLC2A1):c.259G>A (p.Val87Ile) rs1643484242
NM_006516.4(SLC2A1):c.985G>A (p.Glu329Lys) rs2124448063
NM_006567.5(FARS2):c.1156C>G (p.Arg386Gly) rs770597592
NM_006767.4(LZTR1):c.1214G>C (p.Gly405Ala) rs748190695
NM_006767.4(LZTR1):c.2326-1G>A rs1290087666
NM_006767.4(LZTR1):c.652-1G>C
NM_006772.3(SYNGAP1):c.1802C>A (p.Ala601Glu) rs1761012352
NM_006772.3(SYNGAP1):c.3635C>T (p.Ser1212Phe) rs1761209473
NM_006914.4(RORB):c.784T>C (p.Cys262Arg) rs2118516548
NM_006922.4(SCN3A):c.2293G>A (p.Ala765Thr) rs1687767627
NM_007103.4(NDUFV1):c.383G>T (p.Arg128Leu) rs778295360
NM_007194.4(CHEK2):c.1461+5G>A rs769841229
NM_007194.4(CHEK2):c.480AGA[1] (p.Glu161del) rs587782008
NM_007194.4(CHEK2):c.593-1G>C rs786203229
NM_007289.4(MME):c.1946T>C (p.Ile649Thr) rs184666602
NM_007294.4(BRCA1):c.5357T>C (p.Leu1786Pro) rs398122697
NM_012208.4(HARS2):c.389A>G (p.Tyr130Cys) rs763261995
NM_012208.4(HARS2):c.634-2A>G
NM_014049.5(ACAD9):c.1241G>A (p.Arg414His) rs1935884990
NM_014053.4(FLVCR1):c.1593+5_1593+8del rs771159212
NM_014112.5(TRPS1):c.2732A>G (p.Asn911Ser) rs1554617580
NM_014270.5(SLC7A9):c.217G>A (p.Gly73Arg) rs138156402
NM_014362.4(HIBCH):c.353T>C (p.Phe118Ser) rs758938066
NM_014363.6(SACS):c.4747C>A (p.Pro1583Thr) rs1566068552
NM_014795.4(ZEB2):c.917G>A (p.Gly306Asp) rs1703292916
NM_014946.4(SPAST):c.1174G>C (p.Ala392Pro) rs1558331867
NM_015450.3(POT1):c.818G>A (p.Arg273Gln) rs587777476
NM_015506.3(MMACHC):c.82-11_82-8del rs751236442
NM_015629.4(PRPF31):c.682G>C (p.Ala228Pro) rs2146421585
NM_015915.5(ATL1):c.1193C>A (p.Ser398Tyr) rs864622083
NM_015915.5(ATL1):c.1237T>C (p.Phe413Leu) rs2504577368
NM_016111.4(TELO2):c.2291+1G>A rs76038845
NM_016180.5(SLC45A2):c.563G>A (p.Gly188Asp) rs1177355814
NM_016239.4(MYO15A):c.5504G>T (p.Arg1835Leu) rs752816535
NM_017909.4(RMND1):c.729+1_729+2del rs1382069196
NM_018062.4(FANCL):c.1051_1052del (p.Ser351fs) rs750871999
NM_018972.4(GDAP1):c.193G>A (p.Glu65Lys) rs1808862287
NM_018972.4(GDAP1):c.482G>A (p.Arg161His) rs104894076
NM_018979.4(WNK1):c.5448+1G>T rs1953966878
NM_019098.5(CNGB3):c.806T>C (p.Leu269Pro) rs1189928623
NM_019109.5(ALG1):c.212C>G (p.Ser71Cys) rs200605408
NM_019109.5(ALG1):c.434G>A (p.Gly145Asp) rs387906926
NM_020166.5(MCCC1):c.1315G>T (p.Val439Leu) rs398124352
NM_020247.5(COQ8A):c.1805C>A (p.Pro602Gln) rs61995958
NM_020247.5(COQ8A):c.1805C>T (p.Pro602Leu) rs61995958
NM_020320.5(RARS2):c.734G>A (p.Arg245Gln) rs767785738
NM_020451.3(SELENON):c.402_403+2del rs773670891
NM_020778.5(ALPK3):c.135_143+12del rs762762408
NM_020822.3(KCNT1):c.2896G>A (p.Ala966Thr) rs1424788778
NM_020964.3(EPG5):c.5943-9_5943-5del rs773330060
NM_020975.6(RET):c.2136+2T>G rs2132856009
NM_020975.6(RET):c.989G>A (p.Arg330Gln) rs80236571
NM_021830.5(TWNK):c.1343A>G (p.Asn448Ser)
NM_021930.6(RINT1):c.1887-4_1892del rs2485181856
NM_021939.4(FKBP10):c.1015C>T (p.Arg339Trp) rs377642451
NM_022124.6(CDH23):c.3220+1G>A rs1487026359
NM_022124.6(CDH23):c.4762C>T (p.Arg1588Trp) rs137937502
NM_022132.5(MCCC2):c.955G>A (p.Gly319Arg) rs1443551700
NM_022356.4(P3H1):c.2174_2177del (p.Leu725fs) rs1570452214
NM_022455.5(NSD1):c.5714G>C (p.Cys1905Ser) rs1554204110
NM_022455.5(NSD1):c.5741G>A (p.Arg1914His) rs587784155
NM_022455.5(NSD1):c.6086C>T (p.Thr2029Ile) rs587784181
NM_023036.6(DNAI2):c.701G>A (p.Gly234Asp) rs897911822
NM_024120.5(NDUFAF5):c.718-1G>A rs1359810808
NM_024411.5(PDYN):c.658_659del (p.Trp220fs) rs748307861
NM_024675.4(PALB2):c.104T>C (p.Leu35Pro) rs141047069
NM_024675.4(PALB2):c.1684+1G>A rs1555461148
NM_024809.5(TCTN2):c.613G>A (p.Gly205Ser) rs201827132
NM_024809.5(TCTN2):c.613G>T (p.Gly205Cys) rs201827132
NM_024996.7(GFM1):c.248A>T (p.Asp83Val) rs1576721522
NM_024996.7(GFM1):c.573-1G>C rs2108009356
NM_024996.7(GFM1):c.749G>A (p.Arg250Gln) rs752251570
NM_025137.4(SPG11):c.6899T>G (p.Leu2300Arg) rs371334506
NM_030665.4(RAI1):c.3440G>A (p.Arg1147Gln) rs772898321
NM_031407.7(HUWE1):c.12885G>C (p.Lys4295Asn) rs1325394060
NM_032119.4(ADGRV1):c.8286+4A>G rs1343614760
NM_033380.3(COL4A5):c.2200G>A (p.Gly734Ser) rs867265684
NM_033380.3(COL4A5):c.3116G>A (p.Gly1039Asp) rs1556421658
NM_033380.3(COL4A5):c.3712G>A (p.Gly1238Ser) rs2147959471
NM_033380.3(COL4A5):c.3853G>A (p.Gly1285Ser) rs764755602
NM_033380.3(COL4A5):c.4207G>A (p.Gly1403Ser) rs2147982351
NM_033380.3(COL4A5):c.511G>A (p.Gly171Ser) rs1556404027
NM_033380.3(COL4A5):c.530G>C (p.Gly177Ala) rs1569489328
NM_053025.4(MYLK):c.4289-2A>C
NM_058246.4(DNAJB6):c.265T>C (p.Phe89Leu) rs387907150
NM_080680.3(COL11A2):c.1179+1G>A rs760663026
NM_130837.3(OPA1):c.1466T>C (p.Leu489Pro) rs1553877946
NM_130837.3(OPA1):c.1498C>A (p.Arg500Ser) rs886043340
NM_130837.3(OPA1):c.1722AGA[1] (p.Glu576del) rs794727173
NM_130837.3(OPA1):c.2126A>G (p.Asp709Gly) rs2109139343
NM_133433.4(NIPBL):c.6068A>G (p.His2023Arg) rs587783991
NM_138694.4(PKHD1):c.10414T>G (p.Cys3472Gly) rs1772510920
NM_138694.4(PKHD1):c.11452G>T (p.Val3818Phe) rs1385935333
NM_138694.4(PKHD1):c.1397G>C (p.Gly466Ala) rs750730042
NM_138694.4(PKHD1):c.1980C>G (p.Cys660Trp) rs1554214097
NM_138694.4(PKHD1):c.2280-2A>G rs780675990
NM_138694.4(PKHD1):c.847T>C (p.Phe283Leu) rs375145340
NM_138694.4(PKHD1):c.8648TAG[1] (p.Val2884del) rs1554221478
NM_138694.4(PKHD1):c.8871A>G (p.Ile2957Met) rs1453006216
NM_144643.4(SCLT1):c.778-2A>T
NM_144666.3(DNHD1):c.11207-9_11207del rs759052984
NM_144672.4(OTOA):c.1265G>T (p.Gly422Val) rs200689333
NM_144672.4(OTOA):c.1880C>G (p.Pro627Arg) rs727503351
NM_145045.5(ODAD3):c.1116+1G>T rs761992279
NM_145200.5(CABP4):c.757C>T (p.Arg253Ter) rs761991624
NM_152296.5(ATP1A3):c.973G>C (p.Gly325Arg) rs2145977694
NM_152564.5(VPS13B):c.5908+2dup rs587777381
NM_152564.5(VPS13B):c.8243C>T (p.Ser2748Leu) rs180177370
NM_172250.3(MMAA):c.439+4_439+7del rs1553957939
NM_173477.5(USH1G):c.251T>C (p.Leu84Pro) rs397517927
NM_174936.4(PCSK9):c.652A>G (p.Arg218Gly) rs1278078294
NM_175914.5(HNF4A):c.932G>A (p.Arg311His) rs1375557127
NM_177438.3(DICER1):c.2257-2A>G rs2140034081
NM_177438.3(DICER1):c.2523A>G (p.Gln841=) rs1891604387
NM_177550.5(SLC13A5):c.369-2A>G rs1973796030
NM_177924.5(ASAH1):c.994G>C (p.Asp332His) rs941670381
NM_177924.5(ASAH1):c.998G>A (p.Arg333His) rs1588974098
NM_177965.4(CFAP418):c.374+1G>C rs974031657
NM_181458.4(PAX3):c.241G>T (p.Gly81Cys) rs483353059
NM_182916.3(TRNT1):c.443C>T (p.Ala148Val) rs761516140
NM_194277.3(FRMD7):c.568A>G (p.Arg190Gly) rs2124223282
NM_198904.4(GABRG2):c.247C>A (p.Pro83Thr) rs587777365
NM_198904.4(GABRG2):c.941C>A (p.Thr314Lys) rs2532755903
NM_201253.3(CRB1):c.1760G>A (p.Cys587Tyr) rs1471328495
NM_201253.3(CRB1):c.635G>A (p.Cys212Tyr) rs1658699227
NM_201548.5(CERKL):c.674A>T (p.Asp225Val) rs863224855
NM_206933.4(USH2A):c.1000C>G (p.Arg334Gly) rs397517963
NM_206933.4(USH2A):c.11387C>T (p.Pro3796Leu) rs1173600555
NM_206933.4(USH2A):c.12261G>C (p.Trp4087Cys) rs2464914539
NM_206933.4(USH2A):c.12415G>A (p.Gly4139Ser) rs138866017
NM_206933.4(USH2A):c.13808A>C (p.His4603Pro) rs727504551
NM_206933.4(USH2A):c.14423G>A (p.Cys4808Tyr) rs2464816066
NM_206933.4(USH2A):c.15020C>T (p.Pro5007Leu) rs1237333884
NM_206933.4(USH2A):c.15380C>T (p.Pro5127Leu) rs201513512
NM_206933.4(USH2A):c.1655G>C (p.Cys552Ser) rs2528257076
NM_206933.4(USH2A):c.1979G>A (p.Gly660Glu) rs2528172143
NM_206933.4(USH2A):c.2087G>T (p.Cys696Phe) rs1352007983
NM_206933.4(USH2A):c.4307C>T (p.Pro1436Leu) rs1230923403
NM_206933.4(USH2A):c.4481A>T (p.Asn1494Ile) rs2034357761
NM_206933.4(USH2A):c.4886-33_4894dup rs2527813624
NM_206933.4(USH2A):c.5504C>T (p.Ser1835Leu) rs199645514
NM_206933.4(USH2A):c.5516T>A (p.Val1839Glu) rs886039867
NM_206933.4(USH2A):c.6721C>T (p.Pro2241Ser) rs111033412
NM_206933.4(USH2A):c.847A>G (p.Arg283Gly) rs2102658767
NM_207122.2(EXT2):c.1935+1G>T rs945058783
NR_033294.2(SNORD118):n.81G>A rs772667974
Single allele

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