ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Invitae and "uncertain significance" from any submitter

Minimum review status of the submission from Invitae: Collection method of the submission from Invitae:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 1396
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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 0.00403
NM_014270.5(SLC7A9):c.544G>A (p.Ala182Thr) rs79389353 0.00238
NM_001292063.2(OTOG):c.7693+1G>A rs548496846 0.00091
NM_022132.5(MCCC2):c.1433C>G (p.Ala478Gly) rs35068278 0.00082
NM_000271.5(NPC1):c.3011C>T (p.Ser1004Leu) rs150334966 0.00066
NM_198076.6(COX20):c.157+3G>C rs367956888 0.00066
NM_000518.4(HBB):c.208G>A (p.Gly70Ser) rs33947415 0.00064
NM_001384732.1(CPLANE1):c.8462-1G>C rs151279194 0.00060
NM_000069.3(CACNA1S):c.5049-2A>G rs148989517 0.00056
NM_024079.5(ALG8):c.478+1G>A rs139832787 0.00052
NM_000030.3(AGXT):c.1048G>A (p.Gly350Ser) rs199610919 0.00046
NM_001378609.3(OTOGL):c.6019+5G>A rs368712763 0.00046
NM_020320.5(RARS2):c.773G>A (p.Arg258His) rs145297855 0.00044
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_020117.11(LARS1):c.1292T>A (p.Val431Asp) rs150429680 0.00041
NM_000170.3(GLDC):c.2852C>A (p.Ser951Tyr) rs147472391 0.00036
NM_002303.6(LEPR):c.1835G>A (p.Arg612His) rs144159890 0.00036
NM_001041.4(SI):c.4099A>G (p.Arg1367Gly) rs143388292 0.00034
NM_001089.3(ABCA3):c.418A>C (p.Asn140His) rs45447801 0.00032
NM_183065.4(TMEM107):c.*638C>T rs368022715 0.00032
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_014321.4(ORC6):c.2T>C (p.Met1Thr) rs146795505 0.00028
NM_206933.4(USH2A):c.13133C>T (p.Pro4378Leu) rs570277510 0.00026
NM_000152.5(GAA):c.922C>T (p.His308Tyr) rs112025212 0.00024
NM_006383.4(CIB2):c.556C>T (p.Arg186Trp) rs370359511 0.00024
NM_006796.3(AFG3L2):c.2167G>A (p.Val723Met) rs139469785 0.00024
NM_016239.4(MYO15A):c.5978G>A (p.Arg1993Gln) rs117071200 0.00024
NM_145200.5(CABP4):c.370C>T (p.Arg124Cys) rs121917828 0.00022
NM_001102564.3(IFT43):c.296-5602T>C rs141114765 0.00020
NM_000350.3(ABCA4):c.3608G>A (p.Gly1203Glu) rs146786552 0.00019
NM_000492.4(CFTR):c.2855T>C (p.Met952Thr) rs142773283 0.00019
NM_003560.4(PLA2G6):c.386T>C (p.Leu129Pro) rs374746113 0.00019
NM_014140.4(SMARCAL1):c.2114C>T (p.Thr705Ile) rs200644381 0.00019
NM_133459.4(CCBE1):c.472C>T (p.Arg158Cys) rs121908253 0.00019
NM_000275.3(OCA2):c.727C>T (p.Arg243Cys) rs138065338 0.00018
NM_006005.3(WFS1):c.2122C>T (p.Arg708Cys) rs200099217 0.00016
NM_017547.4(FOXRED1):c.920G>A (p.Gly307Glu) rs145888229 0.00016
NM_138694.4(PKHD1):c.9662C>T (p.Pro3221Leu) rs145141656 0.00016
NM_000053.4(ATP7B):c.3583G>A (p.Ala1195Thr) rs202218969 0.00015
NM_007194.4(CHEK2):c.190G>A (p.Glu64Lys) rs141568342 0.00015
NM_000350.3(ABCA4):c.2673A>T (p.Glu891Asp) rs766079334 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_004004.6(GJB2):c.110T>C (p.Val37Ala) rs141774369 0.00014
NM_016955.4(SEPSECS):c.548-1G>A rs200041461 0.00014
NM_018136.5(ASPM):c.9294+2T>C rs199503603 0.00014
NM_000237.3(LPL):c.286G>C (p.Val96Leu) rs373088068 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_001737.5(C9):c.355T>G (p.Cys119Gly) rs121909593 0.00013
NM_001851.6(COL9A1):c.876+2T>A rs149830493 0.00013
NM_144991.3(TSPEAR):c.1877T>C (p.Phe626Ser) rs369010851 0.00013
NM_194248.3(OTOF):c.5332G>T (p.Val1778Phe) rs111033330 0.00013
NM_001081.4(CUBN):c.348+2T>C rs146047781 0.00012
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_000487.6(ARSA):c.434G>A (p.Arg145Gln) rs551548107 0.00011
NM_000492.4(CFTR):c.3274T>C (p.Tyr1092His) rs376968326 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_006017.3(PROM1):c.2490-2A>G rs375813885 0.00011
NM_020632.3(ATP6V0A4):c.1029+5G>A rs147476317 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_000441.2(SLC26A4):c.2029C>T (p.Arg677Trp) rs397516426 0.00010
NM_001360.3(DHCR7):c.1349G>A (p.Arg450His) rs542266962 0.00010
NM_016111.4(TELO2):c.2296G>A (p.Val766Met) rs371675497 0.00010
NM_145886.4(PIDD1):c.2042-2A>G rs199752248 0.00010
NM_000053.4(ATP7B):c.3859G>A (p.Gly1287Ser) rs762866453 0.00009
NM_000138.5(FBN1):c.7660C>T (p.Arg2554Trp) rs369294972 0.00009
NM_000271.5(NPC1):c.3559G>A (p.Ala1187Thr) rs762517273 0.00009
NM_000443.4(ABCB4):c.1529A>G (p.Asn510Ser) rs375315619 0.00009
NM_001083961.2(WDR62):c.1043+3A>G rs587784541 0.00009
NM_001164508.2(NEB):c.22590+2T>C rs200449517 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_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_000350.3(ABCA4):c.4909G>A (p.Ala1637Thr) rs61754056 0.00008
NM_001077365.2(POMT1):c.752C>T (p.Pro251Leu) rs139660235 0.00008
NM_001369.3(DNAH5):c.8828G>A (p.Arg2943His) rs184758570 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_014639.4(SKIC3):c.642+1G>A rs538894487 0.00008
NM_000243.3(MEFV):c.1958G>A (p.Arg653His) rs104895085 0.00007
NM_000335.5(SCN5A):c.4975A>G (p.Ile1659Val) rs199473625 0.00007
NM_000527.5(LDLR):c.760C>G (p.Gln254Glu) rs759109699 0.00007
NM_001142800.2(EYS):c.7811G>A (p.Arg2604His) rs368798160 0.00007
NM_001378778.1(MPDZ):c.394G>A (p.Gly132Ser) rs201101621 0.00007
NM_001414.4(EIF2B1):c.824A>G (p.Tyr275Cys) rs758746181 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_052845.4(MMAB):c.521C>T (p.Ser174Leu) rs140881518 0.00007
NM_000017.4(ACADS):c.575C>T (p.Ala192Val) rs28940874 0.00006
NM_000138.5(FBN1):c.7999G>A (p.Glu2667Lys) rs149062442 0.00006
NM_000152.5(GAA):c.2051C>T (p.Pro684Leu) rs147327209 0.00006
NM_000152.5(GAA):c.2456G>A (p.Arg819Gln) rs374687883 0.00006
NM_000158.4(GBE1):c.555+1G>T rs759707498 0.00006
NM_000260.4(MYO7A):c.5618G>A (p.Arg1873Gln) rs397516322 0.00006
NM_000275.3(OCA2):c.2080G>A (p.Ala694Thr) rs745803719 0.00006
NM_000350.3(ABCA4):c.3184C>A (p.Leu1062Ile) rs966434923 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_000492.4(CFTR):c.3209G>A (p.Arg1070Gln) rs78769542 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_001061.7(TBXAS1):c.1417G>T (p.Gly473Trp) rs149988492 0.00006
NM_001256545.2(MEGF10):c.2857-2A>G rs199750143 0.00006
NM_001360.3(DHCR7):c.89G>C (p.Gly30Ala) rs200334114 0.00006
NM_001414.4(EIF2B1):c.252+1G>A rs113994006 0.00006
NM_002226.5(JAG2):c.2515G>A (p.Gly839Arg) rs781734780 0.00006
NM_003504.5(CDC45):c.1660C>T (p.Arg554Trp) rs778665661 0.00006
NM_003560.4(PLA2G6):c.1495G>A (p.Ala499Thr) rs141045127 0.00006
NM_016239.4(MYO15A):c.4769A>G (p.Tyr1590Cys) rs191828237 0.00006
NM_025114.4(CEP290):c.6645+1G>A rs201218801 0.00006
NM_025137.4(SPG11):c.6157G>A (p.Val2053Met) rs149003934 0.00006
NM_138694.4(PKHD1):c.5129C>T (p.Pro1710Leu) rs749294509 0.00006
NM_144991.3(TSPEAR):c.1423G>A (p.Gly475Ser) rs782056388 0.00006
NM_175914.5(HNF4A):c.340C>T (p.Arg114Trp) rs137853336 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_000022.4(ADA):c.757C>T (p.Arg253Trp) rs201944717 0.00005
NM_000046.5(ARSB):c.1450A>G (p.Arg484Gly) rs201101343 0.00005
NM_000260.4(MYO7A):c.4040G>A (p.Arg1347His) rs756324342 0.00005
NM_000303.3(PMM2):c.91T>C (p.Phe31Leu) rs749720760 0.00005
NM_000350.3(ABCA4):c.1715G>A (p.Arg572Gln) rs61748559 0.00005
NM_000532.5(PCCB):c.1127G>A (p.Arg376His) rs142982097 0.00005
NM_000785.4(CYP27B1):c.1358G>A (p.Arg453His) rs759208930 0.00005
NM_001044385.3(TMEM237):c.42+1G>A rs1378726802 0.00005
NM_001142800.2(EYS):c.6473T>C (p.Leu2158Pro) rs777735735 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_001611.5(ACP5):c.131C>T (p.Thr44Met) rs369804864 0.00005
NM_003244.4(TGIF1):c.83C>G (p.Ser28Cys) rs121909066 0.00005
NM_005548.3(KARS1):c.85G>C (p.Ala29Pro) rs369238198 0.00005
NM_021930.6(RINT1):c.1333+1G>A rs375350359 0.00005
NM_022098.4(XPNPEP3):c.856-2A>G rs149609214 0.00005
NM_153033.5(KCTD7):c.190A>G (p.Thr64Ala) rs201296399 0.00005
NM_000016.6(ACADM):c.388-5G>A rs759254037 0.00004
NM_000017.4(ACADS):c.417G>C (p.Trp139Cys) rs149107232 0.00004
NM_000018.4(ACADVL):c.866G>A (p.Gly289Glu) rs778514103 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_000063.6(C2):c.1360+1G>A rs140225293 0.00004
NM_000082.4(ERCC8):c.481G>A (p.Val161Ile) rs148393161 0.00004
NM_000098.3(CPT2):c.691C>T (p.Arg231Trp) rs373638740 0.00004
NM_000152.5(GAA):c.781G>A (p.Ala261Thr) rs543360994 0.00004
NM_000187.4(HGD):c.347T>C (p.Leu116Pro) rs569846003 0.00004
NM_000277.3(PAH):c.1237C>T (p.Arg413Cys) rs62644467 0.00004
NM_000282.4(PCCA):c.782A>G (p.Glu261Gly) rs1169861687 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_000400.4(ERCC2):c.776G>A (p.Cys259Tyr) rs370454709 0.00004
NM_000436.4(OXCT1):c.1099+2T>C rs202242762 0.00004
NM_000441.2(SLC26A4):c.697G>C (p.Val233Leu) rs397516431 0.00004
NM_000466.3(PEX1):c.2846G>A (p.Arg949Gln) rs61750425 0.00004
NM_000492.4(CFTR):c.794T>G (p.Met265Arg) rs148519623 0.00004
NM_000527.5(LDLR):c.1868T>C (p.Ile623Thr) rs141155833 0.00004
NM_000528.4(MAN2B1):c.2249G>A (p.Arg750Gln) rs373240866 0.00004
NM_000532.5(PCCB):c.1514T>C (p.Ile505Thr) rs1353542774 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_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_001048174.2(MUTYH):c.954G>A (p.Ser318=) rs372673338 0.00004
NM_001171.6(ABCC6):c.3704G>A (p.Arg1235Gln) rs138700741 0.00004
NM_001330078.2(NRXN1):c.772+1032G>A rs771759988 0.00004
NM_001369.3(DNAH5):c.4116G>C (p.Gln1372His) rs139463637 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_002340.6(LSS):c.1054G>A (p.Gly352Arg) rs373046759 0.00004
NM_002437.5(MPV17):c.263A>T (p.Lys88Met) rs756530281 0.00004
NM_002439.5(MSH3):c.1341-1G>T rs61754780 0.00004
NM_003060.4(SLC22A5):c.1403C>A (p.Thr468Lys) rs386134221 0.00004
NM_006005.3(WFS1):c.1949A>G (p.Tyr650Cys) rs765322804 0.00004
NM_014053.4(FLVCR1):c.847G>C (p.Ala283Pro) rs777525949 0.00004
NM_018075.5(ANO10):c.512T>C (p.Phe171Ser) rs373386030 0.00004
NM_023036.6(DNAI2):c.1142T>C (p.Leu381Pro) rs373836524 0.00004
NM_024876.4(COQ8B):c.532C>T (p.Arg178Trp) rs398122978 0.00004
NM_025074.7(FRAS1):c.4843+2T>C rs370018000 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_138691.3(TMC1):c.2027T>A (p.Val676Asp) rs764992976 0.00004
NM_144773.4(PROKR2):c.337T>C (p.Tyr113His) rs202203360 0.00004
NM_144991.3(TSPEAR):c.1697A>G (p.Tyr566Cys) rs782088056 0.00004
NM_152490.5(B3GALNT2):c.979G>A (p.Asp327Asn) rs753340395 0.00004
NM_174936.4(PCSK9):c.1399C>G (p.Pro467Ala) rs772677312 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_000016.6(ACADM):c.216+5G>T rs528788578 0.00003
NM_000017.4(ACADS):c.1156C>T (p.Arg386Cys) rs537072819 0.00003
NM_000018.4(ACADVL):c.1076C>T (p.Ala359Val) rs539029862 0.00003
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_000019.4(ACAT1):c.1229C>T (p.Ala410Val) rs767412638 0.00003
NM_000022.4(ADA):c.715G>A (p.Gly239Ser) rs777820729 0.00003
NM_000023.4(SGCA):c.221G>A (p.Arg74Gln) rs779439298 0.00003
NM_000048.4(ASL):c.1367G>A (p.Arg456Gln) rs767271619 0.00003
NM_000057.4(BLM):c.3210+2del rs587779886 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_000155.4(GALT):c.857A>G (p.Tyr286Cys) rs367543262 0.00003
NM_000159.4(GCDH):c.1148G>A (p.Arg383His) rs764608975 0.00003
NM_000271.5(NPC1):c.1672G>T (p.Ala558Ser) rs201156397 0.00003
NM_000282.4(PCCA):c.802C>T (p.Arg268Cys) rs774738181 0.00003
NM_000283.4(PDE6B):c.299G>A (p.Arg100His) rs555600300 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.1577G>A (p.Arg526His) rs45627438 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.3481C>T (p.Arg1161Cys) rs553776104 0.00003
NM_000350.3(ABCA4):c.370C>T (p.Arg124Cys) rs138359497 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.-121T>C rs777716188 0.00003
NM_000528.4(MAN2B1):c.1204G>A (p.Glu402Lys) rs370760999 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.7099G>A (p.Ala2367Thr) rs146306934 0.00003
NM_000540.3(RYR1):c.7291G>A (p.Asp2431Asn) rs193922810 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_001079866.2(BCS1L):c.551G>A (p.Arg184His) rs779504946 0.00003
NM_001126108.2(SLC12A3):c.2599G>A (p.Gly867Ser) rs370301695 0.00003
NM_001130987.2(DYSF):c.4079G>A (p.Arg1360Gln) rs747583441 0.00003
NM_001142800.2(EYS):c.7810C>T (p.Arg2604Cys) rs1015857165 0.00003
NM_001164508.2(NEB):c.11910+1G>A rs774495973 0.00003
NM_001252024.2(TRPM1):c.3070A>T (p.Ile1024Phe) rs369484186 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_001374736.1(DST):c.16609-1G>T rs766657292 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.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_002340.6(LSS):c.1194+5G>A rs748758448 0.00003
NM_003060.4(SLC22A5):c.131C>T (p.Ala44Val) rs199689597 0.00003
NM_003331.5(TYK2):c.691C>T (p.Arg231Trp) rs201917359 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.2143C>T (p.Arg715Trp) rs780656375 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_016180.5(SLC45A2):c.1325C>T (p.Pro442Leu) rs769448704 0.00003
NM_018105.3(THAP1):c.238A>G (p.Ile80Val) rs372080941 0.00003
NM_020549.5(CHAT):c.620G>A (p.Arg207His) rs764497513 0.00003
NM_020778.5(ALPK3):c.1828G>A (p.Val610Met) rs374911318 0.00003
NM_032043.3(BRIP1):c.2543G>A (p.Arg848His) rs374334794 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_144573.4(NEXN):c.1053+1G>A rs397517843 0.00003
NM_206933.4(USH2A):c.821G>A (p.Arg274Gln) rs727504721 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_000018.4(ACADVL):c.709T>C (p.Cys237Arg) rs1189763523 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_000049.4(ASPA):c.237-2A>T rs780936696 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_000053.4(ATP7B):c.588C>A (p.Asp196Glu) rs756718353 0.00002
NM_000069.3(CACNA1S):c.1948+1G>A rs745712829 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_000143.4(FH):c.2T>G (p.Met1Arg) rs201261794 0.00002
NM_000152.5(GAA):c.1831G>A (p.Gly611Ser) rs1278340100 0.00002
NM_000152.5(GAA):c.317G>A (p.Arg106His) rs772534106 0.00002
NM_000152.5(GAA):c.460C>T (p.Arg154Cys) rs539841659 0.00002
NM_000152.5(GAA):c.858G>A (p.Thr286=) rs201056962 0.00002
NM_000191.3(HMGCL):c.493C>T (p.Arg165Trp) rs764039230 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_000271.5(NPC1):c.2873G>A (p.Arg958Gln) rs120074132 0.00002
NM_000310.4(PPT1):c.287G>A (p.Cys96Tyr) rs386833640 0.00002
NM_000322.5(PRPH2):c.454A>G (p.Met152Val) rs146703538 0.00002
NM_000350.3(ABCA4):c.587C>T (p.Pro196Leu) rs769176363 0.00002
NM_000396.4(CTSK):c.137G>A (p.Arg46Gln) rs200870056 0.00002
NM_000441.2(SLC26A4):c.572C>T (p.Ala191Val) rs372875358 0.00002
NM_000448.3(RAG1):c.1981_1983del (p.Met661del) rs774103837 0.00002
NM_000492.4(CFTR):c.165-3C>T rs200337193 0.00002
NM_000512.5(GALNS):c.1108C>T (p.Pro370Ser) rs749891007 0.00002
NM_000512.5(GALNS):c.986A>C (p.His329Pro) rs760892654 0.00002
NM_000527.5(LDLR):c.2050G>A (p.Ala684Thr) rs774730452 0.00002
NM_000528.4(MAN2B1):c.2140T>C (p.Trp714Arg) rs864621993 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.3877C>A (p.Pro1293Thr) rs146407179 0.00002
NM_000540.3(RYR1):c.6359T>C (p.Met2120Thr) rs398123473 0.00002
NM_000540.3(RYR1):c.9892G>A (p.Ala3298Thr) rs544339193 0.00002
NM_001018005.2(TPM1):c.62G>T (p.Arg21Leu) rs730881151 0.00002
NM_001025356.3(ANO6):c.1880+1G>A rs371269172 0.00002
NM_001083614.2(EARS2):c.1394T>C (p.Leu465Pro) rs759857078 0.00002
NM_001126108.2(SLC12A3):c.1049C>T (p.Ser350Leu) rs778585043 0.00002
NM_001126108.2(SLC12A3):c.1075A>G (p.Asn359Asp) rs781030242 0.00002
NM_001199107.2(TBC1D24):c.193C>T (p.Arg65Cys) rs750421791 0.00002
NM_001242896.3(DEPDC5):c.572A>G (p.Tyr191Cys) rs749809456 0.00002
NM_001256317.3(TMPRSS3):c.1148T>A (p.Met383Lys) rs749798053 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_001364171.2(ODAD1):c.707C>T (p.Ala236Val) rs374990723 0.00002
NM_001370658.1(BTD):c.1406A>C (p.Asn469Thr) rs104893692 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_002225.5(IVD):c.596G>T (p.Gly199Val) rs121434285 0.00002
NM_002296.4(LBR):c.1756C>T (p.Arg586Cys) rs199675363 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_003742.4(ABCB11):c.154C>T (p.Arg52Trp) rs763526610 0.00002
NM_003849.4(SUCLG1):c.825+1G>A rs750388794 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_005591.4(MRE11):c.77T>C (p.Met26Thr) rs372068015 0.00002
NM_005609.4(PYGM):c.875T>C (p.Leu292Pro) rs780375860 0.00002
NM_005908.4(MANBA):c.378+1G>A rs142029636 0.00002
NM_007194.4(CHEK2):c.1169A>C (p.Tyr390Ser) rs200928781 0.00002
NM_007289.4(MME):c.1914+1G>A rs1003705057 0.00002
NM_014362.4(HIBCH):c.353T>C (p.Phe118Ser) rs758938066 0.00002
NM_015629.4(PRPF31):c.910C>T (p.Arg304Cys) rs750340477 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_019892.6(INPP5E):c.1402C>T (p.Arg468Cys) rs375909217 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_020247.5(COQ8A):c.911C>T (p.Ala304Val) rs748118737 0.00002
NM_020320.5(RARS2):c.1405C>T (p.Arg469Cys) rs767150990 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_058216.3(RAD51C):c.571+5G>A rs145779113 0.00002
NM_130837.3(OPA1):c.2962G>A (p.Val988Ile) rs375733283 0.00002
NM_138694.4(PKHD1):c.9059T>C (p.Leu3020Pro) rs757148837 0.00002
NM_138694.4(PKHD1):c.931A>G (p.Thr311Ala) rs890884615 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_173842.3(IL1RN):c.63A>G (p.Ser21=) rs763872895 0.00002
NM_194248.3(OTOF):c.5713-2A>G rs111033455 0.00002
NM_194248.3(OTOF):c.5815C>T (p.Arg1939Trp) rs368790049 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.395C>G (p.Pro132Arg) rs875989854 0.00001
NM_000016.6(ACADM):c.599+5G>A rs875989861 0.00001
NM_000017.4(ACADS):c.1130C>T (p.Pro377Leu) rs183161718 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.428G>A (p.Gly143Asp) rs1458941582 0.00001
NM_000018.4(ACADVL):c.577G>C (p.Gly193Arg) rs763630981 0.00001
NM_000018.4(ACADVL):c.661A>G (p.Ser221Gly) rs767063791 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_000023.4(SGCA):c.190G>A (p.Ala64Thr) rs759692350 0.00001
NM_000023.4(SGCA):c.502G>A (p.Gly168Arg) rs199810179 0.00001
NM_000023.4(SGCA):c.661C>T (p.Arg221Cys) rs748936034 0.00001
NM_000023.4(SGCA):c.851G>A (p.Arg284His) rs369359375 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_000033.4(ABCD1):c.739G>A (p.Ala247Thr) rs782487174 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_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.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.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_000051.4(ATM):c.8105T>G (p.Ile2702Arg) rs876659735 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.2905C>T (p.Arg969Trp) rs774028495 0.00001
NM_000053.4(ATP7B):c.3109C>T (p.Pro1037Ser) rs750891085 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.3877G>A (p.Glu1293Lys) rs776300396 0.00001
NM_000053.4(ATP7B):c.4088C>G (p.Ser1363Cys) rs776848753 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_000070.3(CAPN3):c.1636C>T (p.Arg546Cys) rs372438001 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_000092.5(COL4A4):c.5048G>A (p.Cys1683Tyr) rs1386495377 0.00001
NM_000093.5(COL5A1):c.406C>T (p.Pro136Ser) rs777625241 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.8234G>A (p.Arg2745Gln) rs377182638 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_000138.5(FBN1):c.5086T>C (p.Tyr1696His) rs373320952 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.842G>A (p.Arg281Gln) rs772607616 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_000156.6(GAMT):c.391+15G>T rs367567416 0.00001
NM_000158.4(GBE1):c.1063C>T (p.Arg355Cys) rs780431086 0.00001
NM_000158.4(GBE1):c.1655C>T (p.Pro552Leu) rs777589783 0.00001
NM_000162.5(GCK):c.951C>G (p.His317Gln) rs1379908545 0.00001
NM_000163.5(GHR):c.504T>G (p.His168Gln) rs121909373 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_000183.3(HADHB):c.998C>T (p.Pro333Leu) rs770736746 0.00001
NM_000187.4(HGD):c.473C>T (p.Pro158Leu) rs375396766 0.00001
NM_000199.5(SGSH):c.548G>A (p.Cys183Tyr) rs1329133410 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.1401_1403dup (p.Arg467_His468insGln) rs111033219 0.00001
NM_000271.5(NPC1):c.2933G>A (p.Arg978His) rs752728865 0.00001
NM_000271.5(NPC1):c.3745A>G (p.Ser1249Gly) rs1415921261 0.00001
NM_000275.3(OCA2):c.1322A>G (p.Asp441Gly) rs147816326 0.00001
NM_000275.3(OCA2):c.1875A>C (p.Lys625Asn) rs1455447337 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_000294.3(PHKG2):c.469G>A (p.Glu157Lys) rs752961445 0.00001
NM_000303.3(PMM2):c.124G>A (p.Gly42Arg) rs755402538 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_000330.4(RS1):c.554C>T (p.Thr185Met) rs61753173 0.00001
NM_000335.5(SCN5A):c.1045G>A (p.Asp349Asn) rs779687673 0.00001
NM_000335.5(SCN5A):c.2422C>T (p.Arg808Cys) rs749864465 0.00001
NM_000335.5(SCN5A):c.2441G>A (p.Arg814Gln) rs199473584 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.1817G>A (p.Gly606Asp) rs147932486 0.00001
NM_000350.3(ABCA4):c.185C>T (p.Pro62Leu) rs1057520211 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.3005G>A (p.Arg1002Gln) rs752000268 0.00001
NM_000350.3(ABCA4):c.3206A>G (p.Lys1069Arg) rs775661924 0.00001
NM_000350.3(ABCA4):c.6146A>C (p.Lys2049Thr) rs760481450 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_000360.4(TH):c.604C>T (p.Arg202Cys) rs1021029193 0.00001
NM_000363.5(TNNI3):c.370G>C (p.Glu124Gln) rs727503506 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_000387.6(SLC25A20):c.824G>A (p.Arg275Gln) rs376342597 0.00001
NM_000391.4(TPP1):c.1339C>T (p.Arg447Cys) rs1035033641 0.00001
NM_000396.4(CTSK):c.235G>A (p.Gly79Arg) rs750609110 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.1124A>G (p.Tyr375Cys) rs148425972 0.00001
NM_000441.2(SLC26A4):c.1708-1G>A rs759414956 0.00001
NM_000441.2(SLC26A4):c.2003T>C (p.Leu668Pro) rs727504303 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_000478.6(ALPL):c.454C>T (p.Arg152Cys) rs200621180 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.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_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.1367T>C (p.Leu456Pro) rs200143634 0.00001
NM_000527.5(LDLR):c.1381G>T (p.Gly461Cys) rs193922568 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.504C>A (p.Asp168Glu) rs777321035 0.00001
NM_000527.5(LDLR):c.859G>A (p.Gly287Ser) rs375495026 0.00001
NM_000528.4(MAN2B1):c.788C>T (p.Pro263Leu) rs746808159 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.1100G>A (p.Arg367Gln) rs113332073 0.00001
NM_000540.3(RYR1):c.12406C>A (p.Arg4136Ser) rs193922849 0.00001
NM_000540.3(RYR1):c.15021G>C (p.Gln5007His) rs376293495 0.00001
NM_000540.3(RYR1):c.1655G>A (p.Arg552Gln) rs772978260 0.00001
NM_000540.3(RYR1):c.326G>A (p.Arg109Gln) rs762278203 0.00001
NM_000540.3(RYR1):c.3535C>T (p.Arg1179Trp) rs763944786 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.9149T>A (p.Val3050Asp) rs1157851269 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_000784.4(CYP27A1):c.1537C>T (p.Arg513Cys) rs560108684 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_001042432.2(CLN3):c.47-1G>A rs1555469477 0.00001
NM_001048174.2(MUTYH):c.1556del (p.Ala519fs) rs587780086 0.00001
NM_001061.7(TBXAS1):c.1235G>A (p.Arg412Gln) rs199422117 0.00001
NM_001080.3(ALDH5A1):c.692A>G (p.Glu231Gly) rs757605946 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_001142800.2(EYS):c.5959A>C (p.Thr1987Pro) rs1278246029 0.00001
NM_001159773.2(CANT1):c.734C>T (p.Pro245Leu) rs761853610 0.00001
NM_001164508.2(NEB):c.23127+2T>C rs112610938 0.00001
NM_001164508.2(NEB):c.8020G>A (p.Glu2674Lys) rs369224273 0.00001
NM_001177701.3(IFT27):c.234+1G>A rs1159774355 0.00001
NM_001194998.2(CEP152):c.88-2A>G rs537376932 0.00001
NM_001195263.2(PDZD7):c.682G>A (p.Gly228Arg) rs753034799 0.00001
NM_001278293.3(ARL6):c.362G>A (p.Arg121His) rs765715798 0.00001
NM_001288705.3(CSF1R):c.2392G>A (p.Gly798Arg) rs1209791630 0.00001
NM_001297.5(CNGB1):c.2294G>A (p.Arg765His) rs761839551 0.00001
NM_001360.3(DHCR7):c.1084C>T (p.Arg362Cys) rs371302153 0.00001
NM_001360.3(DHCR7):c.1085G>A (p.Arg362His) rs142213147 0.00001
NM_001360.3(DHCR7):c.1277A>C (p.His426Pro) rs1354718634 0.00001
NM_001369.3(DNAH5):c.5146C>T (p.Arg1716Trp) rs368644722 0.00001
NM_001369.3(DNAH5):c.7096C>T (p.Arg2366Trp) rs868151020 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_001844.5(COL2A1):c.2966G>A (p.Arg989His) rs756155678 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_001875.5(CPS1):c.4274+2T>C rs1374322297 0.00001
NM_001876.4(CPT1A):c.1393G>A (p.Gly465Arg) rs80356784 0.00001
NM_001918.5(DBT):c.1202T>C (p.Ile401Thr) rs1449113689 0.00001
NM_001953.5(TYMP):c.854T>C (p.Leu285Pro) rs121913042 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_002878.4(RAD51D):c.619T>C (p.Ser207Pro) rs372365287 0.00001
NM_003060.4(SLC22A5):c.77G>A (p.Ser26Asn) rs772578415 0.00001
NM_003242.6(TGFBR2):c.95-2A>G rs779131465 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_003896.4(ST3GAL5):c.82+1G>C rs878854615 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_004360.5(CDH1):c.2194C>T (p.Arg732Trp) rs864622198 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.310C>T (p.Arg104Cys) rs1194187379 0.00001
NM_004614.5(TK2):c.497A>T (p.Asp166Val) rs921593414 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_005340.7(HINT1):c.284G>A (p.Arg95Gln) rs373197800 0.00001
NM_005609.4(PYGM):c.1193C>T (p.Pro398Leu) rs773204705 0.00001
NM_005609.4(PYGM):c.1723A>G (p.Lys575Glu) rs1315020035 0.00001
NM_005609.4(PYGM):c.580C>T (p.Arg194Trp) rs376581557 0.00001
NM_005677.4(COLQ):c.954+1G>A rs757060689 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_006208.3(ENPP1):c.1652A>G (p.Tyr551Cys) rs753071702 0.00001
NM_006231.4(POLE):c.2562-2A>C rs751662353 0.00001
NM_006231.4(POLE):c.5812-1G>T rs1296022681 0.00001
NM_006231.4(POLE):c.6658-2A>G rs751217859 0.00001
NM_006432.5(NPC2):c.190+5G>A rs80358268 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_007194.4(CHEK2):c.592+3A>T rs587782849 0.00001
NM_007194.4(CHEK2):c.792+2T>C rs545982789 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_014251.3(SLC25A13):c.1637C>G (p.Thr546Arg) rs548769905 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_015338.6(ASXL1):c.141-2A>G rs768868045 0.00001
NM_015506.3(MMACHC):c.349G>C (p.Ala117Pro) rs752205161 0.00001
NM_016204.4(GDF2):c.1051T>C (p.Tyr351His) rs1486994359 0.00001
NM_016239.4(MYO15A):c.4310A>G (p.Tyr1437Cys) rs749812958 0.00001
NM_017534.6(MYH2):c.5472+1G>A rs758888662 0.00001
NM_018006.5(TRMU):c.2T>G (p.Met1Arg) rs118203992 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_020533.3(MCOLN1):c.681-19A>C rs768736321 0.00001
NM_020549.5(CHAT):c.1679G>A (p.Arg560His) rs121912819 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_021008.4(DEAF1):c.716A>G (p.Glu239Gly) rs1064795812 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_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.3220G>A (p.Asp1074Asn) rs750452808 0.00001
NM_022132.5(MCCC2):c.1342G>A (p.Gly448Arg) rs766045910 0.00001
NM_022132.5(MCCC2):c.578G>A (p.Arg193His) rs535519604 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_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_080680.3(COL11A2):c.939+1G>A rs750173113 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.2638C>T (p.Arg880Cys) rs752646435 0.00001
NM_138694.4(PKHD1):c.428A>G (p.Tyr143Cys) rs141093030 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.977G>T (p.Gly326Val) rs778329699 0.00001
NM_144573.4(NEXN):c.688-1G>C rs761030548 0.00001
NM_152564.5(VPS13B):c.7051-1G>A rs930144563 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_176869.3(PPA2):c.346C>T (p.Pro116Ser) rs373735128 0.00001
NM_183050.4(BCKDHB):c.506A>G (p.Tyr169Cys) rs398124580 0.00001
NM_194248.3(OTOF):c.5374C>T (p.Arg1792Cys) rs142111099 0.00001
NM_198904.4(GABRG2):c.1000G>A (p.Ala334Thr) rs398123523 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.13514A>G (p.Tyr4505Cys) rs1268140508 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_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.388-19T>A rs1553123252
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)
NM_000018.4(ACADVL):c.1072A>G (p.Lys358Glu)
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)
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.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_000022.4(ADA):c.1078+2T>C
NM_000023.4(SGCA):c.271G>T (p.Gly91Cys) rs890921874
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.229_237del (p.Trp77_Leu79del) rs1569540680
NM_000033.4(ABCD1):c.653C>T (p.Pro218Leu) rs1569540710
NM_000033.4(ABCD1):c.892G>A (p.Gly298Ser) rs1603232243
NM_000038.6(APC):c.4732T>G (p.Cys1578Gly) rs138367627
NM_000038.6(APC):c.834G>A (p.Gln278=) rs1060503261
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.928A>G (p.Asn310Asp) rs1402584432
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.1354A>T (p.Ile452Phe)
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.3137T>C (p.Leu1046Pro) rs568461905
NM_000051.4(ATM):c.497-1G>T rs778624615
NM_000051.4(ATM):c.5177+5G>A rs759373136
NM_000051.4(ATM):c.7788G>C (p.Glu2596Asp) rs587780639
NM_000053.4(ATP7B):c.2120A>G (p.Gln707Arg)
NM_000053.4(ATP7B):c.2122-3C>T rs1593726901
NM_000053.4(ATP7B):c.2129G>C (p.Gly710Ala) rs1555291285
NM_000053.4(ATP7B):c.254G>C (p.Gly85Ala)
NM_000053.4(ATP7B):c.2558A>G (p.Asp853Gly) rs752634617
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.3266G>A (p.Gly1089Glu) rs1555285911
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_000059.4(BRCA2):c.425+1G>A rs587782590
NM_000059.4(BRCA2):c.7618-10T>G rs864622573
NM_000059.4(BRCA2):c.8167G>A (p.Asp2723Asn) rs41293511
NM_000069.3(CACNA1S):c.4113+1G>A rs1558056376
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.1007G>C (p.Arg336Pro) rs760417941
NM_000071.3(CBS):c.1616T>C (p.Leu539Ser) rs121964968
NM_000071.3(CBS):c.262C>G (p.Pro88Ala)
NM_000071.3(CBS):c.359A>G (p.Asp120Gly) rs1982750491
NM_000071.3(CBS):c.502G>A (p.Val168Met) rs121964970
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.713G>A (p.Arg238Gln) rs2151097307
NM_000081.4(LYST):c.7460+3_7460+6del
NM_000090.4(COL3A1):c.1754G>T (p.Gly585Val) rs2153502692
NM_000091.5(COL4A3):c.2657-1G>T rs373324875
NM_000091.5(COL4A3):c.3546_3548dup (p.Gly1183dup) rs1175052474
NM_000091.5(COL4A3):c.3592G>A (p.Gly1198Ser) rs920061910
NM_000092.5(COL4A4):c.2438G>A (p.Gly813Glu) rs2150251009
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)
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.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_000138.5(FBN1):c.229G>A (p.Gly77Arg) rs794728290
NM_000138.5(FBN1):c.6697C>T (p.Pro2233Ser) rs794728255
NM_000142.5(FGFR3):c.598C>T (p.Arg200Cys) rs886043613
NM_000143.4(FH):c.1431_1433dup (p.Lys477dup) rs367543046
NM_000143.4(FH):c.214A>C (p.Thr72Pro) rs886039362
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.988A>C (p.Thr330Pro) rs776313200
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.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.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.732G>C (p.Gln244His) rs1178922366
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_000158.4(GBE1):c.992+2T>G rs772349876
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.595G>A (p.Val199Met) rs1554335417
NM_000162.5(GCK):c.601G>T (p.Ala201Ser) rs794727775
NM_000166.6(GJB1):c.173C>G (p.Pro58Arg) rs1602348876
NM_000166.6(GJB1):c.376C>T (p.His126Tyr) rs879253995
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_000181.4(GUSB):c.1412A>C (p.Lys471Thr) rs1302470051
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.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_000202.8(IDS):c.187A>G (p.Asn63Asp) rs193302909
NM_000206.3(IL2RG):c.694G>A (p.Gly232Arg) rs1569479909
NM_000208.4(INSR):c.356C>T (p.Ala119Val)
NM_000215.4(JAK3):c.1207C>T (p.Arg403Cys)
NM_000215.4(JAK3):c.1915-1G>A
NM_000219.6(KCNE1):c.292C>T (p.Arg98Trp) rs199473362
NM_000228.3(LAMB3):c.3G>A (p.Met1Ile)
NM_000231.3(SGCG):c.158T>C (p.Leu53Pro) rs781760379
NM_000255.4(MMUT):c.1942G>A (p.Gly648Ser)
NM_000255.4(MMUT):c.912-1G>A rs1561957527
NM_000256.3(MYBPC3):c.2449C>G (p.Arg817Gly) rs727503188
NM_000256.3(MYBPC3):c.2543C>A (p.Ala848Glu) rs730880569
NM_000257.4(MYH7):c.2051T>C (p.Met684Thr) rs606231332
NM_000257.4(MYH7):c.2714G>C (p.Cys905Ser) rs730880757
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_000260.4(MYO7A):c.977T>A (p.Leu326Gln) rs797044491
NM_000271.5(NPC1):c.1156A>G (p.Ser386Gly) rs1192824648
NM_000271.5(NPC1):c.1327-2dup rs1555636712
NM_000271.5(NPC1):c.3134T>C (p.Leu1045Pro) rs893564568
NM_000271.5(NPC1):c.3281T>C (p.Ile1094Thr) rs1338658857
NM_000271.5(NPC1):c.3754+3A>C rs1208252513
NM_000275.3(OCA2):c.1954T>A (p.Trp652Arg) rs886043514
NM_000275.3(OCA2):c.646+1G>A
NM_000277.3(PAH):c.1144T>C (p.Phe382Leu) rs1555203681
NM_000277.3(PAH):c.441+6T>C rs199475698
NM_000277.3(PAH):c.510-5T>A rs1875378128
NM_000277.3(PAH):c.568G>A (p.Val190Met) rs281865441
NM_000277.3(PAH):c.637C>T (p.Leu213Phe) rs1131691945
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_000289.6(PFKM):c.238-3A>G
NM_000298.6(PKLR):c.1552C>A (p.Arg518Ser) rs139002629
NM_000298.6(PKLR):c.1670G>C (p.Gly557Ala) rs1674489086
NM_000298.6(PKLR):c.514G>C (p.Glu172Gln)
NM_000303.3(PMM2):c.337C>A (p.Pro113Thr) rs765433263
NM_000303.3(PMM2):c.44G>C (p.Gly15Ala) rs958073558
NM_000303.3(PMM2):c.457A>G (p.Ile153Val) rs1596489094
NM_000303.3(PMM2):c.458T>G (p.Ile153Arg) rs150577656
NM_000304.4(PMP22):c.233T>C (p.Leu78Pro) rs1555565276
NM_000304.4(PMP22):c.418T>C (p.Trp140Arg) rs1555564040
NM_000304.4(PMP22):c.448G>T (p.Gly150Cys) rs104894624
NM_000304.4(PMP22):c.68C>G (p.Thr23Arg) rs906563423
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_000314.8(PTEN):c.802-2del rs886047397
NM_000317.3(PTS):c.83+1G>A rs927103678
NM_000322.5(PRPH2):c.457A>G (p.Lys153Glu) rs2152010930
NM_000322.5(PRPH2):c.595A>G (p.Asn199Asp) rs757988141
NM_000322.5(PRPH2):c.653C>T (p.Ser218Leu) rs986748364
NM_000322.5(PRPH2):c.737G>C (p.Trp246Ser) rs1582764697
NM_000322.5(PRPH2):c.995T>A (p.Val332Glu) rs1582759492
NM_000330.4(RS1):c.404G>C (p.Gly135Ala)
NM_000335.5(SCN5A):c.2701G>A (p.Glu901Lys) rs199473174
NM_000335.5(SCN5A):c.2816T>C (p.Leu939Pro) rs2061581608
NM_000335.5(SCN5A):c.4393A>G (p.Ile1465Val) rs794728881
NM_000335.5(SCN5A):c.4434+5G>A rs1057520531
NM_000335.5(SCN5A):c.4978G>A (p.Gly1660Arg) rs199473292
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.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.4128G>A (p.Gln1376=) rs1064797113
NM_000350.3(ABCA4):c.4532C>T (p.Pro1511Leu) rs886046564
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_000352.6(ABCC8):c.2521C>G (p.Arg841Gly) rs1484689392
NM_000352.6(ABCC8):c.343A>G (p.Met115Val) rs146695489
NM_000352.6(ABCC8):c.3551C>T (p.Ala1184Val) rs137852675
NM_000352.6(ABCC8):c.916C>T (p.Arg306Cys)
NM_000352.6(ABCC8):c.917G>T (p.Arg306Leu)
NM_000358.3(TGFBI):c.1501C>A (p.Pro501Thr) rs121909212
NM_000360.4(TH):c.90+13G>T rs77140743
NM_000368.5(TSC1):c.2042-5A>G rs118203627
NM_000371.4(TTR):c.259G>C (p.Gly87Arg) rs11541799
NM_000372.5(TYR):c.1234C>G (p.Pro412Ala) rs797046081
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.1452C>G (p.Asn484Lys) rs968221254
NM_000404.4(GLB1):c.1768C>A (p.Arg590Ser) rs794727165
NM_000404.4(GLB1):c.971A>G (p.Tyr324Cys) rs977975596
NM_000428.3(LTBP2):c.3652+1G>C rs773910322
NM_000441.2(SLC26A4):c.1308_1313del (p.Ala437_Leu438del) rs111033207
NM_000441.2(SLC26A4):c.1670G>A (p.Gly557Asp) rs939755872
NM_000441.2(SLC26A4):c.260A>G (p.Asp87Gly) rs111033344
NM_000441.2(SLC26A4):c.347G>A (p.Gly116Asp) rs2129311246
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)
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.854T>C (p.Leu285Pro) rs1555738724
NM_000463.3(UGT1A1):c.1463C>T (p.Ser488Phe) rs72551360
NM_000465.4(BARD1):c.2001+3A>G rs1553612461
NM_000466.3(PEX1):c.3038G>A (p.Arg1013His) rs1484321655
NM_000466.3(PEX1):c.3077T>C (p.Leu1026Pro) rs954814470
NM_000478.6(ALPL):c.1004G>C (p.Arg335Thr) rs1057524727
NM_000478.6(ALPL):c.106A>C (p.Thr36Pro) rs747167000
NM_000478.6(ALPL):c.1143C>G (p.His381Gln) rs749419329
NM_000478.6(ALPL):c.188G>T (p.Gly63Val) rs1490668038
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.643A>G (p.Ile215Val)
NM_000478.6(ALPL):c.746G>C (p.Gly249Ala) rs121918018
NM_000487.6(ARSA):c.1108-3C>G rs1001100248
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.2936A>C (p.Asp979Ala) rs397508462
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.4433C>G (p.Thr1478Arg) rs753173837
NM_000492.4(CFTR):c.558C>G (p.Asn186Lys) rs397508753
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.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)
NM_000516.7(GNAS):c.569A>G (p.Tyr190Cys)
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_000527.4(LDLR):c.-136C>G rs879254374
NM_000527.4(LDLR):c.-149C>A rs879254368
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.1294C>G (p.Leu432Val) rs730882100
NM_000527.5(LDLR):c.1318A>G (p.Arg440Gly) rs879254861
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.1463T>C (p.Ile488Thr)
NM_000527.5(LDLR):c.1577C>A (p.Pro526His) rs879254944
NM_000527.5(LDLR):c.1577C>T (p.Pro526Leu)
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.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.895G>T (p.Ala299Ser) rs879254711
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.159+2T>C rs1057516501
NM_000528.4(MAN2B1):c.2402G>A (p.Gly801Asp) rs864621994
NM_000528.4(MAN2B1):c.2747G>A (p.Arg916His) rs758765126
NM_000530.8(MPZ):c.161C>G (p.Ser54Cys) rs1571820092
NM_000530.8(MPZ):c.193A>G (p.Thr65Ala) rs1553259760
NM_000532.5(PCCB):c.1127G>T (p.Arg376Leu) rs142982097
NM_000532.5(PCCB):c.1313C>A (p.Ala438Asp)
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_000539.3(RHO):c.1021G>A (p.Glu341Lys) rs142322202
NM_000539.3(RHO):c.677T>C (p.Leu226Pro) rs2084786958
NM_000540.3(RYR1):c.10501G>T (p.Asp3501Tyr) rs763259167
NM_000540.3(RYR1):c.12652T>C (p.Phe4218Leu) rs1568581720
NM_000540.3(RYR1):c.12700G>A (p.Val4234Met)
NM_000540.3(RYR1):c.13724A>C (p.Asn4575Thr) rs1568591803
NM_000540.3(RYR1):c.13952A>G (p.His4651Arg) rs118192139
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)
NM_000540.3(RYR1):c.14647-3_14647del rs1568611362
NM_000540.3(RYR1):c.1588C>T (p.Arg530Cys) rs757399861
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.3799C>A (p.Pro1267Thr) rs564495912
NM_000540.3(RYR1):c.3800C>A (p.Pro1267His) rs150495044
NM_000540.3(RYR1):c.643G>A (p.Gly215Arg) rs1393197844
NM_000540.3(RYR1):c.6610C>T (p.His2204Tyr) rs745432757
NM_000540.3(RYR1):c.6701G>A (p.Arg2234His)
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.7355G>A (p.Arg2452Gln) rs193922815
NM_000543.5(SMPD1):c.995C>T (p.Pro332Leu) rs202081954
NM_000545.8(HNF1A):c.1135C>T (p.Pro379Ser)
NM_000545.8(HNF1A):c.1136C>A (p.Pro379His) rs371717826
NM_000546.6(TP53):c.560-9T>A rs794727781
NM_000546.6(TP53):c.569C>G (p.Pro190Arg) rs876660825
NM_000546.6(TP53):c.589G>A (p.Val197Met) rs786204041
NM_000546.6(TP53):c.655C>T (p.Pro219Ser) rs879253894
NM_000548.5(TSC2):c.1865G>C (p.Arg622Pro) rs45517206
NM_000548.5(TSC2):c.910T>C (p.Trp304Arg) rs397515108
NM_000551.4(VHL):c.574C>T (p.Pro192Ser) rs28940300
NM_000553.6(WRN):c.1350+1G>T rs752202315
NM_000553.6(WRN):c.1898+2T>G rs772319506
NM_000553.6(WRN):c.3819+1G>C rs748618811
NM_000642.3(AGL):c.1027C>T (p.Arg343Trp) rs1131691438
NM_000709.4(BCKDHA):c.859C>G (p.Arg287Gly) rs764247545
NM_000718.4(CACNA1B):c.5536+1G>A
NM_000784.4(CYP27A1):c.1209C>G (p.Asn403Lys) rs587778781
NM_000784.4(CYP27A1):c.1436G>A (p.Arg479His) rs199638075
NM_000900.5(MGP):c.56G>A (p.Cys19Tyr) rs1555094473
NM_000900.5(MGP):c.56G>T (p.Cys19Phe) rs1555094473
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_001039876.3(SYNE4):c.973-2A>T
NM_001040142.2(SCN2A):c.2696G>A (p.Gly899Asp) rs796053121
NM_001040716.2(PC):c.1825+1G>A rs1565214970
NM_001042492.3(NF1):c.1328T>C (p.Phe443Ser) rs1555611581
NM_001042492.3(NF1):c.1655T>C (p.Leu552Pro) rs1555613193
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.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.5033A>G (p.Tyr1678Cys) rs1555533347
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.5768C>G (p.Thr1923Arg) rs786203824
NM_001042492.3(NF1):c.5924T>C (p.Leu1975Pro) rs1555534411
NM_001042492.3(NF1):c.6006G>C (p.Gln2002His) rs1555534432
NM_001042492.3(NF1):c.6119C>T (p.Ser2040Phe) rs2069671270
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.7970+5G>A rs1567627286
NM_001048174.2(MUTYH):c.1466_1467delinsAG (p.Cys489Ter) rs587782716
NM_001048174.2(MUTYH):c.652G>T (p.Val218Phe) rs587780749
NM_001077350.3(NPRL3):c.980C>T (p.Pro327Leu) rs1898841618
NM_001079802.2(FKTN):c.919C>G (p.Arg307Gly) rs267606814
NM_001080.3(ALDH5A1):c.1015-3C>G rs2127387935
NM_001082971.2(DDC):c.478C>T (p.Arg160Trp) rs886062374
NM_001089.3(ABCA3):c.1112-20G>A
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.1807G>A (p.Gly603Arg) rs1830302008
NM_001126108.2(SLC12A3):c.1001G>A (p.Arg334Gln)
NM_001126108.2(SLC12A3):c.1045C>G (p.Pro349Ala)
NM_001127222.2(CACNA1A):c.593G>A (p.Arg198Gln) rs797045424
NM_001142800.2(EYS):c.7228G>T (p.Ala2410Ser) rs915505702
NM_001142800.2(EYS):c.8368A>G (p.Arg2790Gly) rs1554163993
NM_001142864.4(PIEZO1):c.5389C>T (p.Arg1797Cys)
NM_001164508.2(NEB):c.1569+1G>A rs1553605553
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_001171.6(ABCC6):c.2293C>G (p.Arg765Gly) rs776513864
NM_001171.6(ABCC6):c.4279G>A (p.Glu1427Lys)
NM_001195263.2(PDZD7):c.2796_2798del (p.Arg933del) rs770336804
NM_001199107.2(TBC1D24):c.404C>T (p.Pro135Leu) rs1057519630
NM_001205293.3(CACNA1E):c.586C>T (p.Arg196Trp) rs1651121815
NM_001212.4(C1QBP):c.576+2T>A
NM_001243279.3(ACSF3):c.1673G>C (p.Arg558Pro) rs140328142
NM_001256071.3(RNF213):c.14566T>C (p.Cys4856Arg) rs2080231811
NM_001256317.3(TMPRSS3):c.1149G>T (p.Met383Ile) rs727503492
NM_001256317.3(TMPRSS3):c.1180G>C (p.Asp394His) rs111033537
NM_001256317.3(TMPRSS3):c.1333G>A (p.Glu445Lys)
NM_001256789.3(CACNA1F):c.245G>A (p.Arg82Gln) rs2065880189
NM_001258392.3(CLPB):c.1610A>G (p.Tyr537Cys) rs150857620
NM_001276345.2(TNNT2):c.286G>A (p.Asp96Asn) rs1553282768
NM_001277115.2(DNAH11):c.495+1G>T
NM_001278512.2(AP3B2):c.3235_3238del (p.Thr1079fs) rs756807665
NM_001283009.2(RTEL1):c.1266+3_1266+80del rs2090574236
NM_001289125.3(IFNAR2):c.157T>C (p.Ser53Pro) rs1987287426
NM_001297.5(CNGB1):c.2320G>A (p.Glu774Lys) rs1286857064
NM_001298.3(CNGA3):c.1307G>A (p.Arg436Gln)
NM_001321120.2(TBX4):c.749G>A (p.Arg250Gln) rs1555883469
NM_001323289.2(CDKL5):c.2500C>T (p.Gln834Ter) rs122460158
NM_001356.5(DDX3X):c.1462C>T (p.Arg488Cys) rs796052234
NM_001360.3(DHCR7):c.1022T>C (p.Leu341Pro) rs1317526744
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.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.907G>T (p.Gly303Trp) rs142808899
NM_001360.3(DHCR7):c.91C>T (p.Arg31Cys) rs367585401
NM_001360016.2(G6PD):c.595A>G (p.Ile199Val)
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_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.3620C>T (p.Ser1207Phe) rs1085307837
NM_001382391.1(CSPP1):c.3330+2T>C
NM_001386393.1(PANK2):c.887A>T (p.Lys296Ile)
NM_001692.4(ATP6V1B1):c.367+1G>A rs1343871627
NM_001844.5(COL2A1):c.4135C>T (p.Arg1379Cys) rs141951587
NM_001844.5(COL2A1):c.4453T>C (p.Cys1485Arg) rs1565664095
NM_001845.6(COL4A1):c.343G>A (p.Gly115Ser)
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_001846.4(COL4A2):c.826-1G>T
NM_001849.4(COL6A2):c.403G>A (p.Asp135Asn) rs983938730
NM_001854.4(COL11A1):c.2241+5G>T rs2101800665
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.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_002181.4(IHH):c.949G>A (p.Val317Met) rs886044074
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_002381.5(MATN3):c.653A>G (p.Tyr218Cys) rs1673092558
NM_002437.5(MPV17):c.190C>T (p.Pro64Ser)
NM_002474.3(MYH11):c.3728T>C (p.Leu1243Pro) rs1555554139
NM_002641.4(PIGA):c.145G>A (p.Val49Met) rs1569180100
NM_002772.3(TMPRSS15):c.533-2A>G
NM_002834.5(PTPN11):c.782T>G (p.Leu261Arg) rs765642157
NM_002880.4(RAF1):c.1193G>T (p.Arg398Leu) rs730880382
NM_002890.3(RASA1):c.3109_3112del (p.Gln1037fs) rs1554051094
NM_002972.4(SBF1):c.897+1G>A rs374026247
NM_003060.4(SLC22A5):c.1064C>T (p.Ser355Leu)
NM_003060.4(SLC22A5):c.1138G>A (p.Ala380Thr)
NM_003060.4(SLC22A5):c.1346A>G (p.Tyr449Cys) rs1183338050
NM_003060.4(SLC22A5):c.55C>A (p.Arg19Ser) rs1319889867
NM_003060.4(SLC22A5):c.641C>T (p.Ala214Val) rs386134199
NM_003060.4(SLC22A5):c.902C>G (p.Ala301Gly)
NM_003235.5(TG):c.3847+1G>C
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)
NM_003242.6(TGFBR2):c.1526G>T (p.Gly509Val) rs863223853
NM_003322.6(TULP1):c.961T>G (p.Tyr321Asp) rs794726991
NM_003361.4(UMOD):c.533G>C (p.Arg178Pro) rs1228791562
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_003560.4(PLA2G6):c.1547C>T (p.Ala516Val)
NM_003560.4(PLA2G6):c.668C>T (p.Pro223Leu) rs776753796
NM_003742.4(ABCB11):c.1444G>A (p.Asp482Asn) rs1558897179
NM_003742.4(ABCB11):c.1708G>T (p.Ala570Ser) rs886043807
NM_003748.4(ALDH4A1):c.866+1G>A rs78532707
NM_003977.4(AIP):c.645+2T>C rs1293512916
NM_003998.4(NFKB1):c.1210+1G>A rs2149203552
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.284T>C (p.Val95Ala) rs1250849257
NM_004004.6(GJB2):c.532G>T (p.Val178Leu) rs1275901105
NM_004046.6(ATP5F1A):c.1037C>T (p.Ser346Phe) rs2144178477
NM_004092.4(ECHS1):c.412G>A (p.Ala138Thr)
NM_004183.4(BEST1):c.33T>G (p.Asn11Lys) rs281865531
NM_004183.4(BEST1):c.568A>T (p.Asn190Tyr)
NM_004208.4(AIFM1):c.1006G>A (p.Glu336Lys) rs1603223158
NM_004208.4(AIFM1):c.1020G>T (p.Met340Ile)
NM_004370.6(COL12A1):c.6067+1G>A rs1766265062
NM_004453.4(ETFDH):c.1116+2T>C rs1561247874
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)
NM_004656.4(BAP1):c.535C>T (p.Arg179Trp) rs910211860
NM_004700.4(KCNQ4):c.860G>T (p.Gly287Val) rs2148320011
NM_004818.3(DDX23):c.2264C>T (p.Thr755Met) rs1938372282
NM_004820.5(CYP7B1):c.1460dup (p.Leu487fs) rs776075679
NM_004999.4(MYO6):c.3137+1G>A rs200713129
NM_005249.5(FOXG1):c.701C>T (p.Ser234Phe) rs1555321334
NM_005450.6(NOG):c.125C>T (p.Pro42Leu) rs1018505000
NM_005548.3(KARS1):c.1486T>C (p.Cys496Arg) rs776736207
NM_005591.4(MRE11):c.21-6_26del rs587780138
NM_005609.4(PYGM):c.1129A>T (p.Asn377Tyr) rs954192338
NM_005609.4(PYGM):c.1151C>T (p.Ala384Val) rs1465752595
NM_005609.4(PYGM):c.1996C>G (p.Gln666Glu) rs119103256
NM_005609.4(PYGM):c.614G>A (p.Gly205Asp)
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.346AAG[1] (p.Lys117del) rs2140294164
NM_005902.4(SMAD3):c.371C>T (p.Pro124Leu) rs886039050
NM_005902.4(SMAD3):c.607+1G>T rs1060500771
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)
NM_006005.3(WFS1):c.529C>T (p.Arg177Cys) rs760631912
NM_006147.4(IRF6):c.134G>A (p.Arg45Gln) rs121434229
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.1020+1G>T rs1064794748
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.4551+2_4551+3del rs1251654299
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_006516.4(SLC2A1):c.523G>A (p.Gly175Ser) rs1085308009
NM_006516.4(SLC2A1):c.985G>A (p.Glu329Lys) rs2124448063
NM_006567.5(FARS2):c.1156C>G (p.Arg386Gly) rs770597592
NM_006662.3(SRCAP):c.1135-2A>G
NM_006767.4(LZTR1):c.1235G>A (p.Arg412His) rs935736801
NM_006767.4(LZTR1):c.320+1G>A rs943939913
NM_006767.4(LZTR1):c.400+1G>C rs1555927561
NM_006767.4(LZTR1):c.401-1G>C rs747225246
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_007103.4(NDUFV1):c.733G>A (p.Val245Met)
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_007294.4(BRCA1):c.5357T>C (p.Leu1786Pro) rs398122697
NM_007294.4(BRCA1):c.5365G>A (p.Ala1789Thr) rs80357078
NM_012144.4(DNAI1):c.1204G>A (p.Gly402Ser) rs746647838
NM_012208.4(HARS2):c.389A>G (p.Tyr130Cys) rs763261995
NM_014014.5(SNRNP200):c.1627C>T (p.Pro543Ser) rs1057519143
NM_014053.4(FLVCR1):c.1593+5_1593+8del rs771159212
NM_014270.5(SLC7A9):c.217G>A (p.Gly73Arg)
NM_014362.4(HIBCH):c.439-2A>G rs1180861300
NM_014795.4(ZEB2):c.917G>A (p.Gly306Asp) rs1703292916
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_016111.4(TELO2):c.2291+1G>A rs76038845
NM_016239.4(MYO15A):c.4072G>A (p.Gly1358Ser)
NM_018052.5(VAC14):c.947-2A>G
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_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)
NM_020451.3(SELENON):c.402_403+2del rs773670891
NM_020451.3(SELENON):c.873-2A>G rs1176143542
NM_020778.5(ALPK3):c.135_143+12del
NM_020778.5(ALPK3):c.3965+2T>C
NM_020822.3(KCNT1):c.2896G>A (p.Ala966Thr)
NM_020964.3(EPG5):c.5943-9_5943-5del rs773330060
NM_021939.4(FKBP10):c.1015C>T (p.Arg339Trp) rs377642451
NM_021957.4(GYS2):c.1472T>G (p.Met491Arg) rs121918422
NM_022124.6(CDH23):c.4762C>T (p.Arg1588Trp) rs137937502
NM_022124.6(CDH23):c.4845G>A (p.Ser1615=) rs542618168
NM_022132.5(MCCC2):c.955G>A (p.Gly319Arg) rs1443551700
NM_022356.4(P3H1):c.2174_2177del (p.Leu725fs) rs1570452214
NM_022437.3(ABCG8):c.1877G>T (p.Gly626Val)
NM_022455.5(NSD1):c.5714G>C (p.Cys1905Ser) rs1554204110
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_024996.7(GFM1):c.573-1G>C rs2108009356
NM_024996.7(GFM1):c.749G>A (p.Arg250Gln) rs752251570
NM_025103.4(IFT74):c.256+1G>C
NM_025137.4(SPG11):c.6899T>G (p.Leu2300Arg) rs371334506
NM_030665.4(RAI1):c.3440G>A (p.Arg1147Gln)
NM_031407.7(HUWE1):c.12885G>C (p.Lys4295Asn) rs1325394060
NM_033380.3(COL4A5):c.3116G>A (p.Gly1039Asp) rs1556421658
NM_033380.3(COL4A5):c.4207G>A (p.Gly1403Ser) rs2147982351
NM_058246.4(DNAJB6):c.265T>C (p.Phe89Leu) rs387907150
NM_080680.3(COL11A2):c.1179+1G>A
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_133459.4(CCBE1):c.213-1G>A rs201030273
NM_138413.4(HOGA1):c.908G>A (p.Arg303His)
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.1233+1G>A rs886061623
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.6074A>G (p.Tyr2025Cys) rs1554144226
NM_138694.4(PKHD1):c.8648TAG[1] (p.Val2884del) rs1554221478
NM_144672.4(OTOA):c.1265G>T (p.Gly422Val) rs200689333
NM_144672.4(OTOA):c.1880C>G (p.Pro627Arg) rs727503351
NM_145331.3(MAP3K7):c.820C>T (p.Arg274Cys) rs2127974439
NM_152296.5(ATP1A3):c.973G>C (p.Gly325Arg) rs2145977694
NM_152564.5(VPS13B):c.5908+2dup rs587777381
NM_172250.3(MMAA):c.439+4_439+7del rs1553957939
NM_173477.5(USH1G):c.251T>C (p.Leu84Pro) rs397517927
NM_175914.5(HNF4A):c.932G>A (p.Arg311His) rs1375557127
NM_177550.5(SLC13A5):c.369-2A>G rs1973796030
NM_177924.5(ASAH1):c.998G>A (p.Arg333His) rs1588974098
NM_177965.4(CFAP418):c.374+1G>C
NM_181458.4(PAX3):c.241G>T (p.Gly81Cys) rs483353059
NM_183235.3(RAB27A):c.121A>G (p.Thr41Ala) rs1896186645
NM_199242.3(UNC13D):c.1820G>C (p.Arg607Pro) rs377293829
NM_201253.3(CRB1):c.1760G>A (p.Cys587Tyr) rs1471328495
NM_201548.5(CERKL):c.316C>T (p.Arg106Cys) rs569826109
NM_206933.4(USH2A):c.1000C>G (p.Arg334Gly) rs397517963
NM_206933.4(USH2A):c.12261G>C (p.Trp4087Cys)
NM_206933.4(USH2A):c.13808A>C (p.His4603Pro) rs727504551
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.4307C>T (p.Pro1436Leu) rs1230923403
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
Single allele

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