ClinVar Miner

Variants with conflicting interpretations "pathogenic" from GeneDx and "likely pathogenic" from any submitter

Minimum review status of the submission from GeneDx: Collection method of the submission from GeneDx:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 2418
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HGVS dbSNP gnomAD frequency
NM_005105.5(RBM8A):c.-21G>A rs139428292 0.01871
NM_025216.3(WNT10A):c.682T>A (p.Phe228Ile) rs121908120 0.01450
NM_004004.6(GJB2):c.101T>C (p.Met34Thr) rs35887622 0.00966
NM_000350.3(ABCA4):c.6320G>A (p.Arg2107His) rs62642564 0.00654
NM_016233.2(PADI3):c.881C>T (p.Ala294Val) rs144080386 0.00620
NM_000083.3(CLCN1):c.2680C>T (p.Arg894Ter) rs55960271 0.00561
NM_005105.5(RBM8A):c.67+32G>C rs201779890 0.00518
NM_012452.3(TNFRSF13B):c.542C>A (p.Ala181Glu) rs72553883 0.00518
NM_016233.2(PADI3):c.335T>A (p.Leu112His) rs142129409 0.00502
NM_000371.4(TTR):c.424G>A (p.Val142Ile) rs76992529 0.00501
NM_000250.2(MPO):c.2031-2A>C rs35897051 0.00472
NM_001171.6(ABCC6):c.1171A>G (p.Arg391Gly) rs72653762 0.00459
NM_000350.3(ABCA4):c.2588G>C (p.Gly863Ala) rs76157638 0.00445
NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg) rs34557412 0.00403
NM_000552.5(VWF):c.2561G>A (p.Arg854Gln) rs41276738 0.00377
NM_000016.6(ACADM):c.985A>G (p.Lys329Glu) rs77931234 0.00363
NM_003119.4(SPG7):c.1529C>T (p.Ala510Val) rs61755320 0.00361
NM_015836.4(WARS2):c.37T>G (p.Trp13Gly) rs139548132 0.00360
NM_004004.6(GJB2):c.109G>A (p.Val37Ile) rs72474224 0.00354
NM_000275.3(OCA2):c.1327G>A (p.Val443Ile) rs121918166 0.00350
NM_001329943.3(KIAA0586):c.392del (p.Arg131fs) rs534542684 0.00347
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp) rs36053993 0.00341
NM_016038.4(SBDS):c.258+2T>C rs113993993 0.00323
NM_000035.4(ALDOB):c.448G>C (p.Ala150Pro) rs1800546 0.00319
NM_000301.5(PLG):c.112A>G (p.Lys38Glu) rs73015965 0.00282
NM_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu) rs1800553 0.00269
NM_000262.3(NAGA):c.973G>A (p.Glu325Lys) rs121434529 0.00225
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg) rs113624356 0.00212
NM_000478.6(ALPL):c.571G>A (p.Glu191Lys) rs121918007 0.00200
NM_000157.4(GBA1):c.1226A>G (p.Asn409Ser) rs76763715 0.00191
NM_005609.4(PYGM):c.148C>T (p.Arg50Ter) rs116987552 0.00181
NM_000350.3(ABCA4):c.3113C>T (p.Ala1038Val) rs61751374 0.00178
NM_000250.2(MPO):c.1705C>T (p.Arg569Trp) rs119468010 0.00173
NM_016327.3(UPB1):c.917-1G>A rs143493067 0.00169
NM_024818.6(UBA5):c.1111G>A (p.Ala371Thr) rs114925667 0.00169
NM_001003841.3(SLC6A19):c.517G>A (p.Asp173Asn) rs121434346 0.00168
NM_001111.5(ADAR):c.577C>G (p.Pro193Ala) rs145588689 0.00162
NM_001354604.2(MITF):c.1273G>A (p.Glu425Lys) rs149617956 0.00160
NM_006361.6(HOXB13):c.251G>A (p.Gly84Glu) rs138213197 0.00160
NM_002693.3(POLG):c.752C>T (p.Thr251Ile) rs113994094 0.00159
NM_007055.4(POLR3A):c.1909+22G>A rs191875469 0.00156
NM_000243.3(MEFV):c.2177T>C (p.Val726Ala) rs28940579 0.00147
NM_001256317.3(TMPRSS3):c.413C>A (p.Ala138Glu) rs147231991 0.00146
NM_002016.2(FLG):c.9740C>A (p.Ser3247Ter) rs150597413 0.00144
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr) rs75184679 0.00141
NM_002528.7(NTHL1):c.244C>T (p.Gln82Ter) rs150766139 0.00138
NM_001127701.1(SERPINA1):c.187C>T (p.Arg63Cys) rs28931570 0.00137
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe) rs80338902 0.00137
NM_000098.3(CPT2):c.338C>T (p.Ser113Leu) rs74315294 0.00134
NM_000350.3(ABCA4):c.4685T>C (p.Ile1562Thr) rs1762111 0.00132
NM_002470.4(MYH3):c.-9+1G>A rs557849165 0.00117
NM_002491.3(NDUFB3):c.64T>C (p.Trp22Arg) rs142609245 0.00116
NM_007254.4(PNKP):c.1029+2T>C rs199919568 0.00115
NM_004130.4(GYG1):c.304G>C (p.Asp102His) rs143137713 0.00109
NM_000787.4(DBH):c.339+2T>C rs74853476 0.00106
NM_001256317.3(TMPRSS3):c.1273G>A (p.Ala425Thr) rs56264519 0.00105
NM_003119.4(SPG7):c.1045G>A (p.Gly349Ser) rs141659620 0.00103
NM_018480.7(TMEM126B):c.635G>T (p.Gly212Val) rs141542003 0.00103
NM_024301.5(FKRP):c.826C>A (p.Leu276Ile) rs28937900 0.00103
NM_016366.3(CABP2):c.637+1G>T rs149712664 0.00102
NM_022437.3(ABCG8):c.1083G>A (p.Trp361Ter) rs137852987 0.00102
NM_213599.3(ANO5):c.692G>T (p.Gly231Val) rs137854523 0.00098
NM_002693.3(POLG):c.2209G>C (p.Gly737Arg) rs121918054 0.00096
NM_139027.6(ADAMTS13):c.3178C>T (p.Arg1060Trp) rs142572218 0.00088
NM_000275.3(OCA2):c.1103C>T (p.Ala368Val) rs61745150 0.00086
NM_002693.3(POLG):c.2243G>C (p.Trp748Ser) rs113994097 0.00081
NM_001099287.2(NIPAL4):c.341C>A (p.Ala114Asp) rs199422217 0.00077
NM_000235.4(LIPA):c.894G>A (p.Gln298=) rs116928232 0.00075
NM_001127178.3(PIGG):c.1515G>A (p.Trp505Ter) rs150259543 0.00073
NM_001243279.3(ACSF3):c.1075G>A (p.Glu359Lys) rs150487794 0.00071
NM_023936.2(MRPS34):c.94C>T (p.Gln32Ter) rs763672163 0.00071
NM_176869.3(PPA2):c.514G>A (p.Glu172Lys) rs146013446 0.00070
NM_018082.6(POLR3B):c.1244T>C (p.Met415Thr) rs199504211 0.00069
NM_000030.3(AGXT):c.508G>A (p.Gly170Arg) rs121908529 0.00067
NM_024577.4(SH3TC2):c.2860C>T (p.Arg954Ter) rs80338933 0.00067
NM_013339.4(ALG6):c.257+5G>A rs199682486 0.00065
NM_001164508.2(NEB):c.23989C>T (p.Arg7997Ter) rs549794342 0.00061
NM_001177316.2(SLC34A3):c.575C>T (p.Ser192Leu) rs199690076 0.00059
NM_001492.6(GDF1):c.681C>A (p.Cys227Ter) rs121434422 0.00058
NM_022132.5(MCCC2):c.1015G>A (p.Val339Met) rs150591260 0.00057
NM_001039141.3(TRIOBP):c.5014G>T (p.Gly1672Ter) rs200045032 0.00054
NM_001361.5(DHODH):c.403C>T (p.Arg135Cys) rs201230446 0.00054
NM_014625.4(NPHS2):c.413G>A (p.Arg138Gln) rs74315342 0.00054
NM_021971.4(GMPPB):c.79G>C (p.Asp27His) rs142336618 0.00054
NM_001243279.3(ACSF3):c.1A>G (p.Met1Val) rs370382601 0.00053
NM_001329943.3(KIAA0586):c.94dup (p.His32fs) rs555421894 0.00053
NM_003060.4(SLC22A5):c.136C>T (p.Pro46Ser) rs202088921 0.00052
NM_000016.6(ACADM):c.600-18G>A rs370523609 0.00051
NM_000372.5(TYR):c.1037-7T>A rs61754381 0.00051
NM_000372.5(TYR):c.1118C>A (p.Thr373Lys) rs61754388 0.00051
NM_004820.5(CYP7B1):c.1456C>T (p.Arg486Cys) rs116171274 0.00051
NM_000277.3(PAH):c.734T>C (p.Val245Ala) rs76212747 0.00049
NM_213599.3(ANO5):c.2272C>T (p.Arg758Cys) rs137854529 0.00049
NM_000350.3(ABCA4):c.6089G>A (p.Arg2030Gln) rs61750641 0.00048
NM_000402.4(G6PD):c.632A>T (p.Asp211Val) rs5030872 0.00048
NM_001194998.2(CEP152):c.2034T>G (p.Tyr678Ter) rs182018947 0.00048
NM_138694.4(PKHD1):c.107C>T (p.Thr36Met) rs137852944 0.00048
NM_004004.6(GJB2):c.416G>A (p.Ser139Asn) rs76434661 0.00047
NM_000017.4(ACADS):c.988C>T (p.Arg330Cys) rs140853839 0.00046
NM_000520.6(HEXA):c.1274_1277dup (p.Tyr427fs) rs387906309 0.00046
NM_000521.4(HEXB):c.1250C>T (p.Pro417Leu) rs28942073 0.00046
NM_025114.4(CEP290):c.4813-2A>G rs369523378 0.00046
NM_206933.4(USH2A):c.12575G>A (p.Arg4192His) rs199605265 0.00046
NM_176869.3(PPA2):c.683C>T (p.Pro228Leu) rs138215926 0.00044
NM_000275.3(OCA2):c.1465A>G (p.Asn489Asp) rs121918170 0.00043
NM_003060.4(SLC22A5):c.364G>T (p.Asp122Tyr) rs201082652 0.00043
NM_000303.3(PMM2):c.470T>C (p.Phe157Ser) rs190521996 0.00042
NM_000053.4(ATP7B):c.1934T>G (p.Met645Arg) rs121907998 0.00041
NM_001282225.2(ADA2):c.506G>A (p.Arg169Gln) rs77563738 0.00041
NM_000110.4(DPYD):c.1679T>G (p.Ile560Ser) rs55886062 0.00040
NM_000091.5(COL4A3):c.4981C>T (p.Arg1661Cys) rs201697532 0.00039
NM_014249.4(NR2E3):c.119-2A>C rs2723341 0.00038
NM_019616.4(F7):c.995C>T (p.Ala332Val) rs36209567 0.00038
NM_001609.4(ACADSB):c.303+1G>A rs147936696 0.00037
NM_000277.3(PAH):c.1139C>T (p.Thr380Met) rs62642937 0.00036
NM_000350.3(ABCA4):c.5714+5G>A rs61751407 0.00036
NM_000505.4(F12):c.1681-1G>A rs199988476 0.00036
NM_004972.4(JAK2):c.1849G>T (p.Val617Phe) rs77375493 0.00036
NM_203447.4(DOCK8):c.54-1G>T rs192864327 0.00036
NM_006005.3(WFS1):c.1672C>T (p.Arg558Cys) rs199946797 0.00035
NM_000048.4(ASL):c.532G>A (p.Val178Met) rs28941473 0.00034
NM_012452.3(TNFRSF13B):c.260T>A (p.Ile87Asn) rs72553877 0.00034
NM_014444.5(TUBGCP4):c.1746G>T (p.Leu582=) rs200092283 0.00034
NM_015506.3(MMACHC):c.440G>C (p.Gly147Ala) rs140522266 0.00034
NM_017739.4(POMGNT1):c.1539+1G>A rs138642840 0.00034
NM_000492.4(CFTR):c.3454G>C (p.Asp1152His) rs75541969 0.00033
NM_001127701.1(SERPINA1):c.839A>T (p.Asp280Val) rs121912714 0.00033
NM_000277.3(PAH):c.194T>C (p.Ile65Thr) rs75193786 0.00032
NM_014249.4(NR2E3):c.932G>A (p.Arg311Gln) rs28937873 0.00032
NM_000350.3(ABCA4):c.5461-10T>C rs1800728 0.00031
NM_012452.3(TNFRSF13B):c.204dup (p.Leu69fs) rs72553875 0.00031
NM_018082.6(POLR3B):c.1568T>A (p.Val523Glu) rs138249161 0.00031
NM_145038.5(DRC1):c.352C>T (p.Gln118Ter) rs142371860 0.00031
NM_000122.2(ERCC3):c.325C>T (p.Arg109Ter) rs34295337 0.00030
NM_020451.3(SELENON):c.943G>A (p.Gly315Ser) rs121908188 0.00030
NM_033629.6(TREX1):c.341G>A (p.Arg114His) rs72556554 0.00030
NM_000400.4(ERCC2):c.2150C>G (p.Ala717Gly) rs144564120 0.00029
NM_001379500.1(COL18A1):c.3523_3524del (p.Leu1175fs) rs398122391 0.00029
NM_014239.4(EIF2B2):c.599G>T (p.Gly200Val) rs113994012 0.00029
NM_014874.4(MFN2):c.2119C>T (p.Arg707Trp) rs119103267 0.00029
NM_000137.4(FAH):c.1062+5G>A rs80338901 0.00028
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe) rs5030868 0.00028
NM_021830.5(TWNK):c.1523A>G (p.Tyr508Cys) rs80356540 0.00028
NM_024120.5(NDUFAF5):c.327G>C (p.Lys109Asn) rs150613320 0.00028
NM_144991.3(TSPEAR):c.589C>T (p.Arg197Ter) rs139455627 0.00027
NM_000760.4(CSF3R):c.1640G>A (p.Trp547Ter) rs138156467 0.00026
NM_001377.3(DYNC2H1):c.9044A>G (p.Asp3015Gly) rs137853027 0.00026
NM_001609.4(ACADSB):c.1159G>A (p.Glu387Lys) rs188094280 0.00026
NM_005033.3(EXOSC9):c.41T>C (p.Leu14Pro) rs139632595 0.00026
NM_005422.4(TECTA):c.327C>T (p.Gly109=) rs727504830 0.00026
NM_006118.4(HAX1):c.91del (p.Glu31fs) rs764082747 0.00026
NM_007194.4(CHEK2):c.1283C>T (p.Ser428Phe) rs137853011 0.00026
NM_153240.5(NPHP3):c.2694-2_2694-1del rs751527253 0.00026
NM_001258392.3(CLPB):c.1132A>G (p.Arg378Gly) rs144078282 0.00025
NM_015340.4(LARS2):c.1565C>A (p.Thr522Asn) rs199589947 0.00025
NM_000237.3(LPL):c.644G>A (p.Gly215Glu) rs118204057 0.00024
NM_001363711.2(DUOX2):c.1462G>A (p.Gly488Arg) rs191759494 0.00024
NM_030653.4(DDX11):c.1763-1G>C rs148856317 0.00024
NM_000066.4(C8B):c.271C>T (p.Gln91Ter) rs146187042 0.00023
NM_000275.3(OCA2):c.2228C>T (p.Pro743Leu) rs121918167 0.00023
NM_000369.5(TSHR):c.1349G>A (p.Arg450His) rs189261858 0.00023
NM_001163435.3(TBCK):c.376C>T (p.Arg126Ter) rs575822089 0.00023
NM_000104.4(CYP1B1):c.171G>A (p.Trp57Ter) rs72549387 0.00022
NM_020207.7(ERCC6L2):c.1930C>T (p.Arg644Ter) rs147948835 0.00022
NM_020975.6(RET):c.2410G>A (p.Val804Met) rs79658334 0.00022
NM_152743.4(BRAT1):c.294dup (p.Leu99fs) rs776913277 0.00022
NM_000199.5(SGSH):c.220C>T (p.Arg74Cys) rs104894636 0.00021
NM_000260.4(MYO7A):c.3476G>T (p.Gly1159Val) rs199897298 0.00021
NM_000271.5(NPC1):c.3019C>G (p.Pro1007Ala) rs80358257 0.00021
NM_000369.5(TSHR):c.1637G>A (p.Trp546Ter) rs121908866 0.00021
NM_000520.6(HEXA):c.1073+1G>A rs76173977 0.00021
NM_002016.2(FLG):c.94G>T (p.Glu32Ter) rs114733570 0.00021
NM_198053.3(CD247):c.301C>T (p.Gln101Ter) rs55729925 0.00021
NM_206965.2(FTCD):c.211C>T (p.Arg71Ter) rs8133955 0.00021
NM_000017.4(ACADS):c.1058C>T (p.Ser353Leu) rs28941773 0.00020
NM_001083614.2(EARS2):c.322C>T (p.Arg108Trp) rs376103091 0.00020
NM_001378615.1(CC2D2A):c.4667A>T (p.Asp1556Val) rs201502401 0.00020
NM_000023.4(SGCA):c.739G>A (p.Val247Met) rs143570936 0.00019
NM_000232.5(SGCB):c.341C>T (p.Ser114Phe) rs150518260 0.00019
NM_000372.5(TYR):c.823G>T (p.Val275Phe) rs104894314 0.00019
NM_000414.4(HSD17B4):c.46G>A (p.Gly16Ser) rs137853096 0.00019
NM_001243279.3(ACSF3):c.1411C>T (p.Arg471Trp) rs138680796 0.00019
NM_006019.4(TCIRG1):c.1674-1G>A rs139617644 0.00019
NM_007255.3(B4GALT7):c.38G>A (p.Trp13Ter) rs200503833 0.00019
NM_014140.4(SMARCAL1):c.2114C>T (p.Thr705Ile) rs200644381 0.00019
NM_020812.4(DOCK6):c.5939+2T>C rs201387914 0.00019
NM_021971.4(GMPPB):c.860G>A (p.Arg287Gln) rs202160208 0.00019
NM_145199.3(LIPT1):c.292C>G (p.Arg98Gly) rs137973334 0.00019
NM_000443.4(ABCB4):c.959C>T (p.Ser320Phe) rs72552778 0.00018
NM_000535.7(PMS2):c.137G>T (p.Ser46Ile) rs121434629 0.00018
NM_001126108.2(SLC12A3):c.2549T>C (p.Leu850Pro) rs121909379 0.00018
NM_001282225.2(ADA2):c.973-2A>G rs139750129 0.00018
NM_002905.5(RDH5):c.712G>T (p.Gly238Trp) rs62638191 0.00018
NM_005373.3(MPL):c.79+2T>A rs146249964 0.00018
NM_005592.4(MUSK):c.2368G>A (p.Val790Met) rs199476083 0.00018
NM_017433.5(MYO3A):c.2506-1G>A rs201023600 0.00018
NM_000016.6(ACADM):c.797A>G (p.Asp266Gly) rs201375579 0.00017
NM_000057.4(BLM):c.1642C>T (p.Gln548Ter) rs200389141 0.00017
NM_000350.3(ABCA4):c.1622T>C (p.Leu541Pro) rs61751392 0.00017
NM_000392.5(ABCC2):c.3258+1G>A rs762243203 0.00017
NM_000434.4(NEU1):c.649G>A (p.Val217Met) rs28940583 0.00017
NM_001171.6(ABCC6):c.2787+1G>T rs72664209 0.00017
NM_014270.5(SLC7A9):c.313G>A (p.Gly105Arg) rs121908480 0.00017
NM_000157.4(GBA1):c.222_224del (p.Thr75del) rs761621516 0.00016
NM_000275.3(OCA2):c.1239+5G>C rs757119713 0.00016
NM_000478.6(ALPL):c.526G>A (p.Ala176Thr) rs121918019 0.00016
NM_002491.3(NDUFB3):c.208G>T (p.Gly70Ter) rs200800978 0.00016
NM_004004.6(GJB2):c.617A>G (p.Asn206Ser) rs111033294 0.00016
NM_004562.3(PRKN):c.337_376del (p.Pro113fs) rs771529549 0.00016
NM_004562.3(PRKN):c.719C>T (p.Thr240Met) rs137853054 0.00016
NM_006005.3(WFS1):c.2020G>A (p.Gly674Arg) rs200672755 0.00016
NM_174878.3(CLRN1):c.144T>G (p.Asn48Lys) rs111033258 0.00016
NM_213599.3(ANO5):c.172C>T (p.Arg58Trp) rs201725369 0.00016
NM_000199.5(SGSH):c.892T>C (p.Ser298Pro) rs138504221 0.00015
NM_205861.3(DHDDS):c.124A>G (p.Lys42Glu) rs147394623 0.00015
NM_213599.3(ANO5):c.1664G>T (p.Ser555Ile) rs375014127 0.00015
NM_000112.4(SLC26A2):c.1957T>A (p.Cys653Ser) rs104893924 0.00014
NM_000303.3(PMM2):c.442G>A (p.Asp148Asn) rs148032587 0.00014
NM_000329.3(RPE65):c.11+5G>A rs61751276 0.00014
NM_001206744.2(TPO):c.1357T>G (p.Tyr453Asp) rs121908083 0.00014
NM_006907.4(PYCR1):c.355C>T (p.Arg119Cys) rs121918376 0.00014
NM_024339.5(THOC6):c.569G>A (p.Gly190Glu) rs199795381 0.00014
NM_130849.4(SLC39A4):c.599C>T (p.Pro200Leu) rs121434287 0.00014
NM_213599.3(ANO5):c.2498T>A (p.Met833Lys) rs142073798 0.00014
NM_000071.3(CBS):c.146C>T (p.Pro49Leu) rs148865119 0.00013
NM_000135.4(FANCA):c.2852G>A (p.Arg951Gln) rs755922289 0.00013
NM_000350.3(ABCA4):c.5196+1137G>A rs778234759 0.00013
NM_000540.3(RYR1):c.6721C>T (p.Arg2241Ter) rs200563280 0.00013
NM_000784.4(CYP27A1):c.1016C>T (p.Thr339Met) rs121908102 0.00013
NM_001101426.4(CRPPA):c.53dup (p.Ser19Glufs) rs886041302 0.00013
NM_001128178.3(NPHP1):c.859G>A (p.Gly287Arg) rs121907899 0.00013
NM_002016.2(FLG):c.2362C>T (p.Arg788Ter) rs183942200 0.00013
NM_004168.4(SDHA):c.1A>G (p.Met1Val) rs1061517 0.00013
NM_005236.3(ERCC4):c.2395C>T (p.Arg799Trp) rs121913049 0.00013
NM_017909.4(RMND1):c.713A>G (p.Asn238Ser) rs144972972 0.00013
NM_019109.5(ALG1):c.1187+3A>G rs369160589 0.00013
NM_000112.4(SLC26A2):c.532C>T (p.Arg178Ter) rs104893919 0.00012
NM_002437.5(MPV17):c.186+2T>C rs147952488 0.00012
NM_004092.4(ECHS1):c.518C>T (p.Ala173Val) rs150321966 0.00012
NM_005186.4(CAPN1):c.1605+5G>A rs375817528 0.00012
NM_005373.3(MPL):c.391+5G>C rs752453717 0.00012
NM_016222.4(DDX41):c.3G>A (p.Met1Ile) rs141601766 0.00012
NM_000092.5(COL4A4):c.2906C>G (p.Ser969Ter) rs35138315 0.00011
NM_000441.2(SLC26A4):c.85G>C (p.Glu29Gln) rs111033205 0.00011
NM_001126108.2(SLC12A3):c.1964G>A (p.Arg655His) rs121909380 0.00011
NM_001378615.1(CC2D2A):c.3055C>T (p.Arg1019Ter) rs370880399 0.00011
NM_006567.5(FARS2):c.1082C>T (p.Pro361Leu) rs751459058 0.00011
NM_016239.4(MYO15A):c.8183G>A (p.Arg2728His) rs184435771 0.00011
NM_017866.6(TMEM70):c.317-2A>G rs183973249 0.00011
NM_022132.5(MCCC2):c.1065A>T (p.Leu355Phe) rs757052602 0.00011
NM_024753.5(TTC21B):c.626C>T (p.Pro209Leu) rs140511594 0.00011
NM_024996.7(GFM1):c.689+908G>A rs751069628 0.00011
NM_025137.4(SPG11):c.5381T>C (p.Leu1794Pro) rs201689565 0.00011
NM_078470.6(COX15):c.396-3C>G rs200910834 0.00011
NM_000243.3(MEFV):c.2282G>A (p.Arg761His) rs104895097 0.00010
NM_000256.3(MYBPC3):c.1504C>T (p.Arg502Trp) rs375882485 0.00010
NM_000263.4(NAGLU):c.889C>T (p.Arg297Ter) rs104894592 0.00010
NM_000369.5(TSHR):c.484C>G (p.Pro162Ala) rs121908863 0.00010
NM_000388.4(CASR):c.73C>T (p.Arg25Ter) rs201633414 0.00010
NM_000540.3(RYR1):c.4405C>T (p.Arg1469Trp) rs200546266 0.00010
NM_000543.5(SMPD1):c.1493G>T (p.Arg498Leu) rs120074117 0.00010
NM_001130987.2(DYSF):c.4078C>T (p.Arg1360Trp) rs199870606 0.00010
NM_022124.6(CDH23):c.6442G>A (p.Asp2148Asn) rs111033271 0.00010
NM_024079.5(ALG8):c.1090C>T (p.Arg364Ter) rs376161880 0.00010
NM_000124.4(ERCC6):c.2167C>T (p.Gln723Ter) rs151242354 0.00009
NM_000135.4(FANCA):c.3391A>G (p.Thr1131Ala) rs574034197 0.00009
NM_000152.5(GAA):c.1979G>A (p.Arg660His) rs374143224 0.00009
NM_000257.4(MYH7):c.2606G>A (p.Arg869His) rs202141173 0.00009
NM_000277.3(PAH):c.434A>T (p.Asp145Val) rs140175796 0.00009
NM_000335.5(SCN5A):c.673C>T (p.Arg225Trp) rs199473072 0.00009
NM_000518.5(HBB):c.93-21G>A rs35004220 0.00009
NM_000520.6(HEXA):c.459+5G>A rs762060470 0.00009
NM_000784.4(CYP27A1):c.1184+1G>A rs587778777 0.00009
NM_001048174.2(MUTYH):c.650G>A (p.Arg217His) rs140342925 0.00009
NM_001083614.2(EARS2):c.1547G>A (p.Arg516Gln) rs201727231 0.00009
NM_001128126.3(AP4S1):c.289C>T (p.Arg97Ter) rs200440467 0.00009
NM_001199397.3(NEK1):c.3107C>G (p.Ser1036Ter) rs199947197 0.00009
NM_001360.3(DHCR7):c.278C>T (p.Thr93Met) rs80338853 0.00009
NM_001378609.3(OTOGL):c.1940G>A (p.Trp647Ter) rs377708973 0.00009
NM_003193.5(TBCE):c.100+1G>A rs200356271 0.00009
NM_004004.6(GJB2):c.34G>T (p.Gly12Cys) rs104894408 0.00009
NM_004092.4(ECHS1):c.476A>G (p.Gln159Arg) rs375032130 0.00009
NM_005609.4(PYGM):c.1805G>A (p.Arg602Gln) rs373190458 0.00009
NM_007103.4(NDUFV1):c.1157G>A (p.Arg386His) rs536758576 0.00009
NM_007194.4(CHEK2):c.349A>G (p.Arg117Gly) rs28909982 0.00009
NM_007194.4(CHEK2):c.444+1G>A rs121908698 0.00009
NM_014140.4(SMARCAL1):c.2070+2dup rs762716070 0.00009
NM_016239.4(MYO15A):c.6764+2T>A rs763975867 0.00009
NM_024407.5(NDUFS7):c.364G>A (p.Val122Met) rs104894705 0.00009
NM_182760.4(SUMF1):c.463T>C (p.Ser155Pro) rs137852850 0.00009
NM_000104.4(CYP1B1):c.1169G>A (p.Arg390His) rs56010818 0.00008
NM_000152.5(GAA):c.1552-3C>G rs375470378 0.00008
NM_000257.4(MYH7):c.3158G>A (p.Arg1053Gln) rs587782962 0.00008
NM_000293.3(PHKB):c.2326C>T (p.Gln776Ter) rs149244943 0.00008
NM_000350.3(ABCA4):c.634C>T (p.Arg212Cys) rs61750200 0.00008
NM_001079866.2(BCS1L):c.547C>T (p.Arg183Cys) rs144885874 0.00008
NM_001283009.1(RTEL1):c.3791G>A (p.Arg1264His) rs201540674 0.00008
NM_001849.4(COL6A2):c.1970-9G>A rs747900252 0.00008
NM_002693.3(POLG):c.1880G>A (p.Arg627Gln) rs375305567 0.00008
NM_002693.3(POLG):c.2740A>C (p.Thr914Pro) rs139590686 0.00008
NM_004004.6(GJB2):c.283G>A (p.Val95Met) rs111033299 0.00008
NM_004006.3(DMD):c.1724T>C (p.Leu575Pro) rs370644567 0.00008
NM_004614.5(TK2):c.416C>T (p.Ala139Val) rs281865494 0.00008
NM_006907.4(PYCR1):c.633+1G>C rs144346996 0.00008
NM_018116.4(MSTO1):c.836G>A (p.Arg279His) rs563943670 0.00008
NM_000243.3(MEFV):c.1958G>A (p.Arg653His) rs104895085 0.00007
NM_000431.4(MVK):c.346T>C (p.Tyr116His) rs104895382 0.00007
NM_000518.5(HBB):c.92+6T>C rs35724775 0.00007
NM_001042631.3(SDHAF1):c.156C>A (p.Tyr52Ter) rs768768823 0.00007
NM_001292063.2(OTOG):c.7418del (p.Arg2473fs) rs751369871 0.00007
NM_001360.3(DHCR7):c.1228G>A (p.Gly410Ser) rs80338862 0.00007
NM_001983.4(ERCC1):c.466C>T (p.Arg156Trp) rs757369063 0.00007
NM_002225.5(IVD):c.550+1G>A rs377147994 0.00007
NM_005006.7(NDUFS1):c.1393-2A>C rs370009373 0.00007
NM_006214.4(PHYH):c.823C>T (p.Arg275Trp) rs104894178 0.00007
NM_000053.4(ATP7B):c.3796G>A (p.Gly1266Arg) rs121907992 0.00006
NM_000094.4(COL7A1):c.6501G>A (p.Pro2167=) rs767539005 0.00006
NM_000152.5(GAA):c.1124G>A (p.Arg375His) rs142752477 0.00006
NM_000157.4(GBA1):c.1604G>A (p.Arg535His) rs75822236 0.00006
NM_000256.3(MYBPC3):c.1624G>C (p.Glu542Gln) rs121909374 0.00006
NM_000260.4(MYO7A):c.6028G>A (p.Asp2010Asn) rs755934966 0.00006
NM_000271.5(NPC1):c.2974G>C (p.Gly992Arg) rs80358254 0.00006
NM_000350.3(ABCA4):c.3292C>T (p.Arg1098Cys) rs756840095 0.00006
NM_000350.3(ABCA4):c.4594G>A (p.Asp1532Asn) rs62642574 0.00006
NM_000350.3(ABCA4):c.768G>T (p.Val256=) rs62645944 0.00006
NM_000372.5(TYR):c.1A>G (p.Met1Val) rs28940881 0.00006
NM_000404.4(GLB1):c.464T>G (p.Leu155Arg) rs376710410 0.00006
NM_000440.3(PDE6A):c.2053G>A (p.Val685Met) rs121909835 0.00006
NM_000441.2(SLC26A4):c.1541A>G (p.Gln514Arg) rs111033316 0.00006
NM_000478.6(ALPL):c.1250A>G (p.Asn417Ser) rs121918014 0.00006
NM_000520.6(HEXA):c.806-7G>A rs770932296 0.00006
NM_000527.5(LDLR):c.910G>A (p.Asp304Asn) rs121908030 0.00006
NM_000587.4(C7):c.1135G>C (p.Gly379Arg) rs121964921 0.00006
NM_001077365.2(POMT1):c.579_580del (p.Val195fs) rs1032439203 0.00006
NM_001360.3(DHCR7):c.89G>C (p.Gly30Ala) rs200334114 0.00006
NM_001395413.1(POR):c.1816C>T (p.Gln606Ter) rs782261248 0.00006
NM_002016.2(FLG):c.4544C>A (p.Ser1515Ter) rs180768115 0.00006
NM_002016.2(FLG):c.9085C>T (p.Gln3029Ter) rs564628353 0.00006
NM_005055.5(RAPSN):c.133G>A (p.Val45Met) rs121909254 0.00006
NM_007103.4(NDUFV1):c.1022C>T (p.Ala341Val) rs121913660 0.00006
NM_012434.5(SLC17A5):c.533del (p.Thr178fs) rs727504156 0.00006
NM_015214.3(DDHD2):c.1978G>C (p.Asp660His) rs375168720 0.00006
NM_015443.4(KANSL1):c.868C>T (p.Arg290Ter) rs149830411 0.00006
NM_016239.4(MYO15A):c.4198G>A (p.Val1400Met) rs749136456 0.00006
NM_018122.5(DARS2):c.396+2T>G rs759123043 0.00006
NM_020451.3(SELENON):c.1397G>A (p.Arg466Gln) rs121908185 0.00006
NM_022552.5(DNMT3A):c.1903C>T (p.Arg635Trp) rs144689354 0.00006
NM_025114.4(CEP290):c.4966G>T (p.Glu1656Ter) rs62638179 0.00006
NM_032861.4(SERAC1):c.1159C>T (p.Arg387Ter) rs1220930025 0.00006
NM_138413.4(HOGA1):c.834G>A (p.Ala278=) rs770050262 0.00006
NM_138694.4(PKHD1):c.4870C>T (p.Arg1624Trp) rs200391019 0.00006
NM_152564.5(VPS13B):c.6727G>T (p.Glu2243Ter) rs146960401 0.00006
NM_153704.6(TMEM67):c.579_580del (p.Gly195fs) rs386834202 0.00006
NM_153704.6(TMEM67):c.755T>C (p.Met252Thr) rs202149403 0.00006
NM_170784.3(MKKS):c.830T>C (p.Leu277Pro) rs74315398 0.00006
NM_206933.4(USH2A):c.11156G>A (p.Arg3719His) rs527236139 0.00006
NM_213599.3(ANO5):c.41-1G>A rs398124625 0.00006
NM_000082.4(ERCC8):c.37G>T (p.Glu13Ter) rs121434324 0.00005
NM_000158.4(GBE1):c.1544G>A (p.Arg515His) rs201958741 0.00005
NM_000182.5(HADHA):c.180+3A>G rs781222705 0.00005
NM_000197.2(HSD17B3):c.845C>T (p.Pro282Leu) rs144809928 0.00005
NM_000219.6(KCNE1):c.226G>A (p.Asp76Asn) rs74315445 0.00005
NM_000441.2(SLC26A4):c.706C>G (p.Leu236Val) rs111033242 0.00005
NM_000540.3(RYR1):c.14344G>A (p.Gly4782Arg) rs746538672 0.00005
NM_000540.3(RYR1):c.325C>T (p.Arg109Trp) rs118192173 0.00005
NM_001126108.2(SLC12A3):c.2938G>A (p.Gly980Arg) rs34803727 0.00005
NM_001134831.2(AHI1):c.3032C>G (p.Ser1011Ter) rs777215595 0.00005
NM_001292063.2(OTOG):c.3664C>T (p.Arg1222Ter) rs560339163 0.00005
NM_001875.5(CPS1):c.2148T>A (p.Asn716Lys) rs369061090 0.00005
NM_004168.4(SDHA):c.1534C>T (p.Arg512Ter) rs748089700 0.00005
NM_005548.3(KARS1):c.85G>C (p.Ala29Pro) rs369238198 0.00005
NM_006005.3(WFS1):c.1673G>A (p.Arg558His) rs774265764 0.00005
NM_006767.4(LZTR1):c.1018C>T (p.Arg340Ter) rs149850248 0.00005
NM_018418.5(SPATA7):c.253C>T (p.Arg85Ter) rs140287375 0.00005
NM_025207.5(FLAD1):c.1588C>T (p.Arg530Cys) rs771466122 0.00005
NM_000051.4(ATM):c.5763-1050A>G rs774925473 0.00004
NM_000051.4(ATM):c.8147T>C (p.Val2716Ala) rs587782652 0.00004
NM_000070.3(CAPN3):c.865C>T (p.Arg289Trp) rs528417986 0.00004
NM_000082.4(ERCC8):c.481G>A (p.Val161Ile) rs148393161 0.00004
NM_000152.5(GAA):c.1478C>T (p.Pro493Leu) rs148842275 0.00004
NM_000237.3(LPL):c.662T>C (p.Ile221Thr) rs118204061 0.00004
NM_000256.3(MYBPC3):c.1484G>A (p.Arg495Gln) rs200411226 0.00004
NM_000256.3(MYBPC3):c.3330+2T>G rs387906397 0.00004
NM_000277.3(PAH):c.842+1G>A rs5030852 0.00004
NM_000288.4(PEX7):c.618G>A (p.Trp206Ter) rs61753245 0.00004
NM_000302.4(PLOD1):c.1651-2A>G rs565513365 0.00004
NM_000350.3(ABCA4):c.161G>A (p.Cys54Tyr) rs150774447 0.00004
NM_000363.5(TNNI3):c.422G>A (p.Arg141Gln) rs397516347 0.00004
NM_000363.5(TNNI3):c.484C>T (p.Arg162Trp) rs368861241 0.00004
NM_000371.4(TTR):c.148G>A (p.Val50Met) rs28933979 0.00004
NM_000400.4(ERCC2):c.1846C>T (p.Arg616Trp) rs121913024 0.00004
NM_000431.4(MVK):c.608T>C (p.Val203Ala) rs104895332 0.00004
NM_000448.3(RAG1):c.2924G>A (p.Arg975Gln) rs150739647 0.00004
NM_000487.6(ARSA):c.293C>T (p.Ser98Phe) rs74315456 0.00004
NM_000527.5(LDLR):c.1444G>A (p.Asp482Asn) rs139624145 0.00004
NM_000527.5(LDLR):c.718G>A (p.Glu240Lys) rs768563000 0.00004
NM_000535.7(PMS2):c.1A>G (p.Met1Val) rs587779333 0.00004
NM_000540.3(RYR1):c.11763C>A (p.Tyr3921Ter) rs377178986 0.00004
NM_000540.3(RYR1):c.14126C>T (p.Thr4709Met) rs118192140 0.00004
NM_000540.3(RYR1):c.5340_5341del (p.Cys1781fs) rs779723153 0.00004
NM_000540.3(RYR1):c.6274+1G>A rs1226228092 0.00004
NM_000552.5(VWF):c.2446C>T (p.Arg816Trp) rs121964894 0.00004
NM_001048174.2(MUTYH):c.241C>T (p.Arg81Trp) rs765123255 0.00004
NM_001130987.2(DYSF):c.853C>T (p.Arg285Trp) rs149827237 0.00004
NM_001135055.2:c.769_770insCTACCTCCTTATCTTCTG rs781905246 0.00004
NM_001195518.2(MICU1):c.161+1G>A rs375502236 0.00004
NM_001195518.2(MICU1):c.386G>C (p.Arg129Pro) rs375664373 0.00004
NM_001267550.2(TTN):c.36253C>T (p.Gln12085Ter) rs1384922524 0.00004
NM_001267550.2(TTN):c.67495C>T (p.Arg22499Ter) rs574660186 0.00004
NM_001371904.1(APOA5):c.823C>T (p.Gln275Ter) rs149808404 0.00004
NM_001376571.1(MADD):c.979C>T (p.Arg327Ter) rs147179561 0.00004
NM_001384732.1(CPLANE1):c.1A>G (p.Met1Val) rs891693382 0.00004
NM_002016.2(FLG):c.2218C>T (p.Arg740Ter) rs777181377 0.00004
NM_002693.3(POLG):c.911T>G (p.Leu304Arg) rs121918044 0.00004
NM_002878.4(RAD51D):c.694C>T (p.Arg232Ter) rs587780104 0.00004
NM_003119.4(SPG7):c.2096dup (p.Met699fs) rs747503698 0.00004
NM_003172.4(SURF1):c.574C>T (p.Arg192Trp) rs782190413 0.00004
NM_003742.4(ABCB11):c.3457C>T (p.Arg1153Cys) rs72549395 0.00004
NM_003801.4(GPAA1):c.149T>A (p.Met50Lys) rs200581623 0.00004
NM_004614.5(TK2):c.103C>T (p.Gln35Ter) rs886041321 0.00004
NM_004722.4(AP4M1):c.1012C>T (p.Arg338Ter) rs146262009 0.00004
NM_004937.3(CTNS):c.473T>C (p.Leu158Pro) rs113994206 0.00004
NM_005476.7(GNE):c.647T>C (p.Val216Ala) rs779694939 0.00004
NM_007055.4(POLR3A):c.760C>T (p.Arg254Ter) rs141659018 0.00004
NM_007194.4(CHEK2):c.1368dup (p.Glu457fs) rs730881700 0.00004
NM_013296.5(GPSM2):c.1492C>T (p.Arg498Ter) rs370907055 0.00004
NM_015046.7(SETX):c.5591_5592del (p.Gln1864fs) rs776470487 0.00004
NM_015450.3(POT1):c.1087C>T (p.Arg363Ter) rs756198077 0.00004
NM_015474.4(SAMHD1):c.1343T>C (p.Ile448Thr) rs774964432 0.00004
NM_017613.4(DONSON):c.1047-9A>G rs779149681 0.00004
NM_017739.4(POMGNT1):c.1324C>T (p.Arg442Cys) rs28940869 0.00004
NM_017739.4(POMGNT1):c.1469G>A (p.Cys490Tyr) rs267606960 0.00004
NM_020247.5(COQ8A):c.811C>T (p.Arg271Cys) rs145034527 0.00004
NM_021942.6(TRAPPC11):c.1287+5G>A rs397509418 0.00004
NM_021957.4(GYS2):c.1015G>C (p.Ala339Pro) rs121918421 0.00004
NM_021971.4(GMPPB):c.656T>C (p.Ile219Thr) rs761714818 0.00004
NM_022787.4(NMNAT1):c.619C>T (p.Arg207Trp) rs142968179 0.00004
NM_024301.5(FKRP):c.899T>C (p.Val300Ala) rs104894691 0.00004
NM_032581.4(HYCC1):c.125dup (p.Tyr42Ter) rs780540757 0.00004
NM_058216.3(RAD51C):c.577C>T (p.Arg193Ter) rs200293302 0.00004
NM_139242.4(MTFMT):c.1A>C (p.Met1Leu) rs769064443 0.00004
NM_153704.6(TMEM67):c.1319G>A (p.Arg440Gln) rs386834182 0.00004
NM_173076.3(ABCA12):c.4139A>G (p.Asn1380Ser) rs28940269 0.00004
NM_198253.3(TERT):c.2110C>T (p.Pro704Ser) rs199422297 0.00004
NM_201253.3(CRB1):c.2290C>T (p.Arg764Cys) rs62635654 0.00004
NM_206933.4(USH2A):c.11713C>T (p.Arg3905Cys) rs368675850 0.00004
NM_206933.4(USH2A):c.12574C>T (p.Arg4192Cys) rs750396156 0.00004
NM_213599.3(ANO5):c.2521C>G (p.His841Asp) rs781027702 0.00004
NM_000016.6(ACADM):c.443G>A (p.Arg148Lys) rs778906552 0.00003
NM_000023.4(SGCA):c.518T>C (p.Leu173Pro) rs143962150 0.00003
NM_000047.3(ARSL):c.1743G>A (p.Trp581Ter) rs80338714 0.00003
NM_000048.4(ASL):c.1135C>T (p.Arg379Cys) rs28940287 0.00003
NM_000051.4(ATM):c.2250G>A (p.Lys750=) rs1137887 0.00003
NM_000053.4(ATP7B):c.865C>T (p.Gln289Ter) rs121907999 0.00003
NM_000083.3(CLCN1):c.2596-1G>A rs771721648 0.00003
NM_000083.3(CLCN1):c.854G>A (p.Gly285Glu) rs150885084 0.00003
NM_000094.4(COL7A1):c.7344+1G>T rs754469339 0.00003
NM_000143.4(FH):c.521C>G (p.Pro174Arg) rs199822819 0.00003
NM_000152.5(GAA):c.2105G>A (p.Arg702His) rs398123172 0.00003
NM_000159.4(GCDH):c.769C>T (p.Arg257Trp) rs766518430 0.00003
NM_000182.5(HADHA):c.1793_1794del (p.His598fs) rs769580842 0.00003
NM_000199.5(SGSH):c.1139A>G (p.Gln380Arg) rs144143780 0.00003
NM_000203.5(IDUA):c.1598C>G (p.Pro533Arg) rs121965021 0.00003
NM_000256.3(MYBPC3):c.1624+4A>T rs397515916 0.00003
NM_000257.4(MYH7):c.2389G>A (p.Ala797Thr) rs3218716 0.00003
NM_000275.3(OCA2):c.1349C>T (p.Thr450Met) rs772019064 0.00003
NM_000275.3(OCA2):c.2086_2095del (p.Ala696fs) rs746307353 0.00003
NM_000334.4(SCN4A):c.3466G>A (p.Ala1156Thr) rs80338958 0.00003
NM_000334.4(SCN4A):c.4378C>T (p.Arg1460Trp) rs368256039 0.00003
NM_000335.5(SCN5A):c.1127G>A (p.Arg376His) rs199473101 0.00003
NM_000348.4(SRD5A2):c.578A>G (p.Asn193Ser) rs763296857 0.00003
NM_000350.3(ABCA4):c.4539+2001G>A rs1457937638 0.00003
NM_000350.3(ABCA4):c.4793C>A (p.Ala1598Asp) rs61750155 0.00003
NM_000350.3(ABCA4):c.4918C>T (p.Arg1640Trp) rs61751404 0.00003
NM_000352.6(ABCC8):c.2797C>T (p.Arg933Ter) rs570388861 0.00003
NM_000441.2(SLC26A4):c.2171A>G (p.Asp724Gly) rs757820624 0.00003
NM_000465.4(BARD1):c.1216C>T (p.Arg406Ter) rs377153250 0.00003
NM_000466.3(PEX1):c.2966T>C (p.Ile989Thr) rs61750427 0.00003
NM_000478.6(ALPL):c.892G>A (p.Glu298Lys) rs121918017 0.00003
NM_000492.4(CFTR):c.3468G>A (p.Leu1156=) rs139729994 0.00003
NM_000517.4(HBA2):c.142G>C (p.Asp48His) rs281864834 0.00003
NM_000527.5(LDLR):c.1474G>C (p.Asp492His) rs373646964 0.00003
NM_000527.5(LDLR):c.862G>A (p.Glu288Lys) rs368657165 0.00003
NM_000535.7(PMS2):c.2113G>A (p.Glu705Lys) rs267608161 0.00003
NM_000540.3(RYR1):c.1589G>A (p.Arg530His) rs111888148 0.00003
NM_000540.3(RYR1):c.9847C>T (p.Arg3283Ter) rs752199191 0.00003
NM_000789.4(ACE):c.1486C>T (p.Arg496Ter) rs397514688 0.00003
NM_001037.5(SCN1B):c.363C>G (p.Cys121Trp) rs104894718 0.00003
NM_001082971.2(DDC):c.1040G>A (p.Arg347Gln) rs201951824 0.00003
NM_001126108.2(SLC12A3):c.1844C>T (p.Ser615Leu) rs779160677 0.00003
NM_001163435.3(TBCK):c.1363A>T (p.Lys455Ter) rs376699648 0.00003
NM_001164508.2(NEB):c.19836+1G>A rs1446930968 0.00003
NM_001171.6(ABCC6):c.1256G>A (p.Arg419Gln) rs772434460 0.00003
NM_001171.6(ABCC6):c.3904G>A (p.Gly1302Arg) rs63749856 0.00003
NM_001199107.2(TBC1D24):c.724C>T (p.Arg242Cys) rs398122965 0.00003
NM_001206744.2(TPO):c.2578G>A (p.Gly860Arg) rs556552435 0.00003
NM_001232.4(CASQ2):c.923C>T (p.Pro308Leu) rs139228801 0.00003
NM_001278716.2(FBXL4):c.1444C>T (p.Arg482Trp) rs398123061 0.00003
NM_001298.3(CNGA3):c.1306C>T (p.Arg436Trp) rs104893621 0.00003
NM_001360.3(DHCR7):c.461C>G (p.Thr154Arg) rs143312232 0.00003
NM_001399.5(EDA):c.1094T>C (p.Val365Ala) rs397516654 0.00003
NM_002427.4(MMP13):c.325C>T (p.Arg109Ter) rs369083541 0.00003
NM_002637.4(PHKA1):c.2606+1G>A rs373517016 0.00003
NM_002834.5(PTPN11):c.598A>T (p.Asn200Tyr) rs727503381 0.00003
NM_002834.5(PTPN11):c.781C>T (p.Leu261Phe) rs397507525 0.00003
NM_002834.5(PTPN11):c.794G>A (p.Arg265Gln) rs376607329 0.00003
NM_003000.3(SDHB):c.418G>T (p.Val140Phe) rs267607032 0.00003
NM_004004.6(GJB2):c.2T>C (p.Met1Thr) rs371086981 0.00003
NM_004168.4(SDHA):c.223C>T (p.Arg75Ter) rs781764920 0.00003
NM_004260.4(RECQL4):c.1910T>C (p.Phe637Ser) rs386833848 0.00003
NM_004614.5(TK2):c.156+2T>C rs281865499 0.00003
NM_004722.4(AP4M1):c.916C>T (p.Arg306Ter) rs369459721 0.00003
NM_005476.7(GNE):c.737G>A (p.Arg246Gln) rs121908629 0.00003
NM_005670.4(EPM2A):c.721C>T (p.Arg241Ter) rs104893950 0.00003
NM_005984.5(SLC25A1):c.844C>T (p.Arg282Cys) rs431905509 0.00003
NM_006059.4(LAMC3):c.976+1G>C rs201519274 0.00003
NM_013339.4(ALG6):c.998C>T (p.Ala333Val) rs121908443 0.00003
NM_014804.3(KIAA0753):c.2656C>T (p.Arg886Ter) rs370840009 0.00003
NM_015959.4(TMX2):c.614G>A (p.Arg205Gln) rs370455806 0.00003
NM_020247.5(COQ8A):c.895C>T (p.Arg299Trp) rs201908721 0.00003
NM_020975.6(RET):c.1998G>T (p.Lys666Asn) rs146646971 0.00003
NM_021222.3(PRUNE1):c.196C>T (p.Arg66Ter) rs137929776 0.00003
NM_021222.3(PRUNE1):c.383G>A (p.Arg128Gln) rs767769359 0.00003
NM_021628.3(ALOXE3):c.1630C>T (p.Gln544Ter) rs781631629 0.00003
NM_021971.4(GMPPB):c.458C>T (p.Thr153Ile) rs202013297 0.00003
NM_022168.4(IFIH1):c.2465G>A (p.Arg822Gln) rs376048533 0.00003
NM_024577.4(SH3TC2):c.1972C>T (p.Arg658Cys) rs80338926 0.00003
NM_024675.4(PALB2):c.2730T>A (p.Tyr910Ter) rs995629797 0.00003
NM_025132.4(WDR19):c.2129T>C (p.Leu710Ser) rs387906980 0.00003
NM_080916.3(DGUOK):c.444-11C>G rs536746349 0.00003
NM_144672.4(OTOA):c.92-1G>T rs376382794 0.00003
NM_148897.3(SDR9C7):c.599T>C (p.Ile200Thr) rs770729222 0.00003
NM_177924.5(ASAH1):c.147G>A (p.Trp49Ter) rs369707059 0.00003
NM_198129.4(LAMA3):c.8708+1G>A rs754558574 0.00003
NM_201253.3(CRB1):c.2234C>T (p.Thr745Met) rs28939720 0.00003
NM_206933.4(USH2A):c.7595-3C>G rs201657446 0.00003
NM_206933.4(USH2A):c.949C>A (p.Arg317=) rs111033272 0.00003
NM_000051.4(ATM):c.9022C>T (p.Arg3008Cys) rs587782292 0.00002
NM_000071.3(CBS):c.430G>A (p.Glu144Lys) rs121964966 0.00002
NM_000083.3(CLCN1):c.803C>T (p.Thr268Met) rs80356687 0.00002
NM_000083.3(CLCN1):c.829T>C (p.Cys277Arg) rs757109632 0.00002
NM_000089.4(COL1A2):c.2755G>A (p.Gly919Ser) rs749621872 0.00002
NM_000132.4(F8):c.2149C>T (p.Arg717Trp) rs137852435 0.00002
NM_000132.4(F8):c.5123G>A (p.Arg1708His) rs111033614 0.00002
NM_000138.5(FBN1):c.7754T>C (p.Ile2585Thr) rs727503054 0.00002
NM_000169.3(GLA):c.335G>A (p.Arg112His) rs372966991 0.00002
NM_000179.3(MSH6):c.10C>T (p.Gln4Ter) rs786201042 0.00002
NM_000195.5(HPS1):c.398+2T>C rs1486224265 0.00002
NM_000237.3(LPL):c.547G>A (p.Asp183Asn) rs781614031 0.00002
NM_000256.3(MYBPC3):c.2374T>C (p.Trp792Arg) rs187830361 0.00002
NM_000256.3(MYBPC3):c.3190+5G>A rs587782958 0.00002
NM_000256.3(MYBPC3):c.927-9G>A rs397516083 0.00002
NM_000257.4(MYH7):c.2167C>T (p.Arg723Cys) rs121913630 0.00002
NM_000257.4(MYH7):c.5135G>A (p.Arg1712Gln) rs193922390 0.00002
NM_000260.4(MYO7A):c.5824G>T (p.Gly1942Ter) rs111033192 0.00002
NM_000260.4(MYO7A):c.5899C>T (p.Arg1967Ter) rs376764423 0.00002
NM_000271.5(NPC1):c.3557G>A (p.Arg1186His) rs200444084 0.00002
NM_000321.3(RB1):c.1981C>T (p.Arg661Trp) rs137853294 0.00002
NM_000329.3(RPE65):c.130C>T (p.Arg44Ter) rs368088025 0.00002
NM_000336.3(SCNN1B):c.1542+1G>A rs550424284 0.00002
NM_000359.3(TGM1):c.857G>A (p.Arg286Gln) rs121918727 0.00002
NM_000363.5(TNNI3):c.434G>A (p.Arg145Gln) rs397516349 0.00002
NM_000370.3(TTPA):c.2T>C (p.Met1Thr) rs786204758 0.00002
NM_000382.3(ALDH3A2):c.733G>A (p.Asp245Asn) rs72547568 0.00002
NM_000391.4(TPP1):c.1424C>T (p.Ser475Leu) rs121908202 0.00002
NM_000443.4(ABCB4):c.526C>T (p.Arg176Trp) rs754287486 0.00002
NM_000540.3(RYR1):c.1201C>T (p.Arg401Cys) rs193922764 0.00002
NM_000546.6(TP53):c.743G>A (p.Arg248Gln) rs11540652 0.00002
NM_001037.5(SCN1B):c.254G>A (p.Arg85His) rs16969925 0.00002
NM_001048174.2(MUTYH):c.460C>T (p.Arg154Cys) rs747993448 0.00002
NM_001048174.2(MUTYH):c.637C>T (p.Arg213Trp) rs34126013 0.00002
NM_001083961.2(WDR62):c.3514+1G>A rs199736219 0.00002
NM_001171.6(ABCC6):c.3088C>T (p.Arg1030Ter) rs72653705 0.00002
NM_001182.5(ALDH7A1):c.1004G>A (p.Arg335Gln) rs754449549 0.00002
NM_001195518.2(MICU1):c.735+1G>A rs369915689 0.00002
NM_001199107.2(TBC1D24):c.845C>G (p.Pro282Arg) rs747538224 0.00002
NM_001267550.2(TTN):c.56572C>T (p.Arg18858Ter) rs745376275 0.00002
NM_001267550.2(TTN):c.98299_98300del (p.Arg32767fs) rs397517776 0.00002
NM_001298.3(CNGA3):c.847C>T (p.Arg283Trp) rs104893613 0.00002
NM_001377.3(DYNC2H1):c.1360+2del rs780539887 0.00002
NM_001378778.1(MPDZ):c.4003+1G>A rs767038098 0.00002
NM_002635.4(SLC25A3):c.158-303A>G rs745305932 0.00002
NM_002667.5(PLN):c.116T>G (p.Leu39Ter) rs111033560 0.00002
NM_002769.5(PRSS1):c.364C>T (p.Arg122Cys) rs111033568 0.00002
NM_002860.4(ALDH18A1):c.251G>A (p.Arg84Gln) rs121434582 0.00002
NM_002878.4(RAD51D):c.363del (p.Ala122fs) rs730881935 0.00002
NM_003060.4(SLC22A5):c.1195C>T (p.Arg399Trp) rs267607054 0.00002
NM_003560.4(PLA2G6):c.2215G>C (p.Asp739His) rs587784349 0.00002
NM_004366.6(CLCN2):c.1709G>A (p.Trp570Ter) rs201330912 0.00002
NM_004483.5(GCSH):c.226C>T (p.Gln76Ter) rs769222264 0.00002
NM_005188.4(CBL):c.1259G>A (p.Arg420Gln) rs267606708 0.00002
NM_006005.3(WFS1):c.2254G>T (p.Glu752Ter) rs201239579 0.00002
NM_006907.4(PYCR1):c.616G>A (p.Gly206Arg) rs121918375 0.00002
NM_007126.5(VCP):c.572G>A (p.Arg191Gln) rs121909334 0.00002
NM_012200.4(B3GAT3):c.1A>T (p.Met1Leu) rs139759238 0.00002
NM_014804.3(KIAA0753):c.970C>T (p.Arg324Ter) rs746068882 0.00002
NM_015272.5(RPGRIP1L):c.2050C>T (p.Gln684Ter) rs121918204 0.00002
NM_015450.3(POT1):c.1164-1G>A rs866612394 0.00002
NM_015713.5(RRM2B):c.48G>A (p.Glu16=) rs515726180 0.00002
NM_016327.3(UPB1):c.873+1G>A rs747539101 0.00002
NM_018255.4(ELP2):c.1385G>A (p.Arg462Gln) rs371310428 0.00002
NM_021101.5(CLDN1):c.192C>A (p.Cys64Ter) rs752054405 0.00002
NM_022445.4(TPK1):c.185+1G>A rs747753388 0.00002
NM_022552.5(DNMT3A):c.1792C>T (p.Arg598Ter) rs568207978 0.00002
NM_024301.5(FKRP):c.1387A>G (p.Asn463Asp) rs121908110 0.00002
NM_024809.5(TCTN2):c.1506-2A>G rs374349989 0.00002
NM_031407.7(HUWE1):c.12559C>T (p.Arg4187Cys) rs121918527 0.00002
NM_033380.3(COL4A5):c.5048G>A (p.Arg1683Gln) rs104886308 0.00002
NM_130810.4(DNAAF4):c.1047+1G>A rs779538333 0.00002
NM_152564.5(VPS13B):c.3598C>T (p.Arg1200Ter) rs140353201 0.00002
NM_000016.6(ACADM):c.616C>T (p.Arg206Cys) rs373715782 0.00001
NM_000018.4(ACADVL):c.1183-15A>G rs765390290 0.00001
NM_000018.4(ACADVL):c.1349G>A (p.Arg450His) rs118204016 0.00001
NM_000018.4(ACADVL):c.553G>A (p.Gly185Ser) rs545215807 0.00001
NM_000019.4(ACAT1):c.472A>G (p.Asn158Asp) rs148639841 0.00001
NM_000026.4(ADSL):c.1342T>C (p.Ser448Pro) rs771121666 0.00001
NM_000051.4(ATM):c.3576G>A (p.Lys1192=) rs587776551 0.00001
NM_000051.4(ATM):c.3G>A (p.Met1Ile) rs781404312 0.00001
NM_000051.4(ATM):c.6679C>T (p.Arg2227Cys) rs564652222 0.00001
NM_000051.4(ATM):c.7456C>T (p.Arg2486Ter) rs587779865 0.00001
NM_000051.4(ATM):c.7630-2A>C rs587779866 0.00001
NM_000051.4(ATM):c.8494C>T (p.Arg2832Cys) rs587779872 0.00001
NM_000051.4(ATM):c.8545C>T (p.Arg2849Ter) rs587778080 0.00001
NM_000051.4(ATM):c.875C>T (p.Pro292Leu) rs747727055 0.00001
NM_000053.4(ATP7B):c.2621C>T (p.Ala874Val) rs121907994 0.00001
NM_000059.4(BRCA2):c.2612C>A (p.Ser871Ter) rs397507634 0.00001
NM_000059.4(BRCA2):c.7878G>C (p.Trp2626Cys) rs80359013 0.00001
NM_000059.4(BRCA2):c.8243G>A (p.Gly2748Asp) rs80359071 0.00001
NM_000059.4(BRCA2):c.8350C>T (p.Arg2784Trp) rs80359075 0.00001
NM_000059.4(BRCA2):c.8377G>A (p.Gly2793Arg) rs80359082 0.00001
NM_000059.4(BRCA2):c.9371A>T (p.Asn3124Ile) rs28897759 0.00001
NM_000059.4(BRCA2):c.9891_9894dup (p.Gln3299fs) rs730881619 0.00001
NM_000069.3(CACNA1S):c.520C>T (p.Arg174Trp) rs772226819 0.00001
NM_000070.3(CAPN3):c.1342C>T (p.Arg448Cys) rs776043976 0.00001
NM_000070.3(CAPN3):c.956C>T (p.Pro319Leu) rs121434547 0.00001
NM_000080.4(CHRNE):c.1033-1G>C rs755303686 0.00001
NM_000080.4(CHRNE):c.529_551del (p.Glu177fs) rs758687208 0.00001
NM_000083.3(CLCN1):c.1261C>T (p.Arg421Cys) rs756981034 0.00001
NM_000083.3(CLCN1):c.1471+1G>A rs375596425 0.00001
NM_000083.3(CLCN1):c.409T>G (p.Tyr137Asp) rs748639603 0.00001
NM_000083.3(CLCN1):c.871G>A (p.Glu291Lys) rs121912805 0.00001
NM_000083.3(CLCN1):c.950G>A (p.Arg317Gln) rs80356702 0.00001
NM_000089.4(COL1A2):c.2701G>A (p.Gly901Ser) rs72659306 0.00001
NM_000089.4(COL1A2):c.838G>A (p.Gly280Ser) rs72656387 0.00001
NM_000090.4(COL3A1):c.2689G>A (p.Gly897Ser) rs794728054 0.00001
NM_000090.4(COL3A1):c.3166G>A (p.Gly1056Ser) rs1223008559 0.00001
NM_000091.5(COL4A3):c.2452G>A (p.Gly818Arg) rs868002181 0.00001
NM_000091.5(COL4A3):c.3472G>C (p.Gly1158Arg) rs914878176 0.00001
NM_000092.5(COL4A4):c.2092G>A (p.Gly698Arg) rs1241404192 0.00001
NM_000094.4(COL7A1):c.2587+40G>A rs1158768165 0.00001
NM_000094.4(COL7A1):c.7485+5G>A rs988031901 0.00001
NM_000094.4(COL7A1):c.7865G>A (p.Arg2622Gln) rs368529673 0.00001
NM_000098.3(CPT2):c.452G>A (p.Arg151Gln) rs515726177 0.00001
NM_000100.4(CSTB):c.1_2insAT (p.Met1fs) rs1044894207 0.00001
NM_000102.4(CYP17A1):c.316T>C (p.Ser106Pro) rs104894135 0.00001
NM_000124.4(ERCC6):c.1526+1G>T rs371739894 0.00001
NM_000128.4(F11):c.595+3A>G rs933333847 0.00001
NM_000138.5(FBN1):c.6806T>C (p.Ile2269Thr) rs193922228 0.00001
NM_000138.5(FBN1):c.7916A>G (p.Tyr2639Cys) rs794728280 0.00001
NM_000138.5(FBN1):c.8326C>T (p.Arg2776Ter) rs137854466 0.00001
NM_000143.4(FH):c.1020T>A (p.Asn340Lys) rs398123159 0.00001
NM_000152.5(GAA):c.1799G>A (p.Arg600His) rs377544304 0.00001
NM_000155.4(GALT):c.265T>G (p.Tyr89Asp) rs111033666 0.00001
NM_000155.4(GALT):c.772C>T (p.Arg258Cys) rs368166217 0.00001
NM_000157.4(GBA1):c.1246G>A (p.Gly416Ser) rs121908311 0.00001
NM_000162.5(GCK):c.571C>T (p.Arg191Trp) rs1085307455 0.00001
NM_000165.5(GJA1):c.443G>A (p.Arg148Gln) rs962041031 0.00001
NM_000166.6(GJB1):c.491G>A (p.Arg164Gln) rs1241595912 0.00001
NM_000170.3(GLDC):c.806C>T (p.Thr269Met) rs386833587 0.00001
NM_000195.5(HPS1):c.1858-1G>A rs758797992 0.00001
NM_000199.5(SGSH):c.1105G>A (p.Glu369Lys) rs104894640 0.00001
NM_000213.5(ITGB4):c.182G>A (p.Cys61Tyr) rs80338755 0.00001
NM_000218.3(KCNQ1):c.1664G>A (p.Arg555His) rs199472800 0.00001
NM_000218.3(KCNQ1):c.1781G>A (p.Arg594Gln) rs199472815 0.00001
NM_000218.3(KCNQ1):c.520C>T (p.Arg174Cys) rs199472696 0.00001
NM_000218.3(KCNQ1):c.727C>T (p.Arg243Cys) rs199472713 0.00001
NM_000218.3(KCNQ1):c.806G>A (p.Gly269Asp) rs120074194 0.00001
NM_000218.3(KCNQ1):c.830C>T (p.Ser277Leu) rs199472730 0.00001
NM_000228.3(LAMB3):c.628+1G>A rs1057516539 0.00001
NM_000238.4(KCNH2):c.1750G>A (p.Gly584Ser) rs199473428 0.00001
NM_000249.4(MLH1):c.2059C>T (p.Arg687Trp) rs63751275 0.00001
NM_000249.4(MLH1):c.207+1G>A rs267607718 0.00001
NM_000255.4(MMUT):c.322C>T (p.Arg108Cys) rs121918257 0.00001
NM_000256.3(MYBPC3):c.1223+1G>A rs730880639 0.00001
NM_000256.3(MYBPC3):c.1227-2A>G rs730880531 0.00001
NM_000256.3(MYBPC3):c.2490dup (p.His831fs) rs397515966 0.00001
NM_000256.3(MYBPC3):c.3331-2A>C rs869025469 0.00001
NM_000256.3(MYBPC3):c.3490+1G>T rs397516020 0.00001
NM_000256.3(MYBPC3):c.3491-2A>T rs397516022 0.00001
NM_000256.3(MYBPC3):c.655G>T (p.Val219Phe) rs397516068 0.00001
NM_000256.3(MYBPC3):c.821+1G>A rs397516073 0.00001
NM_000257.4(MYH7):c.1954A>G (p.Arg652Gly) rs727504239 0.00001
NM_000257.4(MYH7):c.2536G>C (p.Glu846Gln) rs730880748 0.00001
NM_000257.4(MYH7):c.2681A>G (p.Glu894Gly) rs397516161 0.00001
NM_000257.4(MYH7):c.4066G>A (p.Glu1356Lys) rs727503246 0.00001
NM_000257.4(MYH7):c.4130C>T (p.Thr1377Met) rs397516201 0.00001
NM_000257.4(MYH7):c.5655G>A (p.Ala1885=) rs753392652 0.00001
NM_000260.4(MYO7A):c.2558G>A (p.Arg853His) rs111033437 0.00001
NM_000263.4(NAGLU):c.934G>A (p.Asp312Asn) rs1052471595 0.00001
NM_000271.5(NPC1):c.3614C>A (p.Thr1205Lys) rs758902805 0.00001
NM_000277.3(PAH):c.1199+17G>A rs62508613 0.00001
NM_000293.3(PHKB):c.307C>T (p.Arg103Ter) rs145166656 0.00001
NM_000297.4(PKD2):c.964C>T (p.Arg322Trp) rs1553925453 0.00001
NM_000298.6(PKLR):c.307del (p.Arg103fs) rs1433205059 0.00001
NM_000303.3(PMM2):c.323C>T (p.Ala108Val) rs200503569 0.00001
NM_000303.3(PMM2):c.53C>G (p.Thr18Ser) rs760265100 0.00001
NM_000314.8(PTEN):c.388C>T (p.Arg130Ter) rs121909224 0.00001
NM_000314.8(PTEN):c.518G>A (p.Arg173His) rs121913294 0.00001
NM_000322.5(PRPH2):c.828+3A>T rs281865373 0.00001
NM_000334.4(SCN4A):c.3917G>C (p.Gly1306Ala) rs80338792 0.00001
NM_000335.5(SCN5A):c.1099C>T (p.Arg367Cys) rs199473097 0.00001
NM_000335.5(SCN5A):c.2441G>A (p.Arg814Gln) rs199473584 0.00001
NM_000335.5(SCN5A):c.4716C>T (p.Gly1572=) rs754221948 0.00001
NM_000335.5(SCN5A):c.4892G>A (p.Arg1631His) rs199473286 0.00001
NM_000335.5(SCN5A):c.4928G>A (p.Arg1643His) rs28937316 0.00001
NM_000335.5(SCN5A):c.5126C>T (p.Ser1709Leu) rs137854604 0.00001
NM_000342.4(SLC4A1):c.1468C>T (p.Arg490Cys) rs1398477044 0.00001
NM_000350.3(ABCA4):c.1648G>A (p.Gly550Arg) rs61748558 0.00001
NM_000350.3(ABCA4):c.1957C>T (p.Arg653Cys) rs61749420 0.00001
NM_000350.3(ABCA4):c.4462T>C (p.Cys1488Arg) rs61750146 0.00001
NM_000350.3(ABCA4):c.6386+2C>G rs61753043 0.00001
NM_000359.3(TGM1):c.1186C>T (p.Arg396Cys) rs543521135 0.00001
NM_000363.5(TNNI3):c.433C>T (p.Arg145Trp) rs104894724 0.00001
NM_000363.5(TNNI3):c.485G>A (p.Arg162Gln) rs397516354 0.00001
NM_000363.5(TNNI3):c.497C>T (p.Ser166Phe) rs727504242 0.00001
NM_000371.4(TTR):c.130C>T (p.Pro44Ser) rs11541790 0.00001
NM_000371.4(TTR):c.238A>G (p.Thr80Ala) rs121918070 0.00001
NM_000382.3(ALDH3A2):c.191T>A (p.Val64Asp) rs72547556 0.00001
NM_000388.4(CASR):c.2405A>G (p.Asn802Ser) rs140022350 0.00001
NM_000390.4(CHM):c.1144G>T (p.Glu382Ter) rs786205604 0.00001
NM_000391.4(TPP1):c.833A>G (p.Gln278Arg) rs796053439 0.00001
NM_000402.4(G6PD):c.233T>C (p.Ile78Thr) rs76645461 0.00001
NM_000426.4(LAMA2):c.1303C>T (p.Arg435Ter) rs773209126 0.00001
NM_000432.4(MYL2):c.173G>A (p.Arg58Gln) rs104894369 0.00001
NM_000434.4(NEU1):c.679G>A (p.Gly227Arg) rs769765227 0.00001
NM_000435.3(NOTCH3):c.544C>T (p.Arg182Cys) rs28933697 0.00001
NM_000441.2(SLC26A4):c.1079C>T (p.Ala360Val) rs786204474 0.00001
NM_000448.3(RAG1):c.2291G>A (p.Arg764His) rs768809293 0.00001
NM_000465.4(BARD1):c.1652C>G (p.Ser551Ter) rs587781707 0.00001
NM_000478.6(ALPL):c.331G>A (p.Ala111Thr) rs773257111 0.00001
NM_000478.6(ALPL):c.550C>T (p.Arg184Trp) rs763159520 0.00001
NM_000492.4(CFTR):c.3222T>A (p.Phe1074Leu) rs186045772 0.00001
NM_000494.4(COL17A1):c.332-1G>A rs754289857 0.00001
NM_000527.5(LDLR):c.1061-1G>C rs879254774 0.00001
NM_000527.5(LDLR):c.1414G>T (p.Asp472Tyr) rs730882102 0.00001
NM_000527.5(LDLR):c.1784G>A (p.Arg595Gln) rs201102492 0.00001
NM_000527.5(LDLR):c.190+4A>T rs769446356 0.00001
NM_000527.5(LDLR):c.2029T>C (p.Cys677Arg) rs775092314 0.00001
NM_000527.5(LDLR):c.223T>A (p.Cys75Ser) rs879254439 0.00001
NM_000527.5(LDLR):c.259T>G (p.Trp87Gly) rs121908025 0.00001
NM_000527.5(LDLR):c.301G>A (p.Glu101Lys) rs144172724 0.00001
NM_000527.5(LDLR):c.313+2T>C rs793888517 0.00001
NM_000527.5(LDLR):c.337G>A (p.Glu113Lys) rs769383881 0.00001
NM_000527.5(LDLR):c.502G>A (p.Asp168Asn) rs200727689 0.00001
NM_000527.5(LDLR):c.664T>C (p.Cys222Arg) rs577934998 0.00001
NM_000530.8(MPZ):c.487G>C (p.Gly163Arg) rs281865128 0.00001
NM_000535.7(PMS2):c.1144+1G>A rs373885654 0.00001
NM_000535.7(PMS2):c.2249G>A (p.Gly750Asp) rs587779337 0.00001
NM_000540.3(RYR1):c.11315G>A (p.Arg3772Gln) rs193922839 0.00001
NM_000540.3(RYR1):c.11590+1G>T rs113928116 0.00001
NM_000540.3(RYR1):c.14645C>T (p.Thr4882Met) rs193922884 0.00001
NM_000540.3(RYR1):c.14818G>A (p.Ala4940Thr) rs118192158 0.00001
NM_000540.3(RYR1):c.7282G>A (p.Ala2428Thr) rs193922809 0.00001
NM_000540.3(RYR1):c.7360C>T (p.Arg2454Cys) rs193922816 0.00001
NM_000540.3(RYR1):c.7372C>T (p.Arg2458Cys) rs28933397 0.00001
NM_000540.3(RYR1):c.8310+1G>T rs1970380121 0.00001
NM_000540.3(RYR1):c.9157C>T (p.Arg3053Ter) rs1374378105 0.00001
NM_000546.6(TP53):c.473G>A (p.Arg158His) rs587782144 0.00001
NM_000546.6(TP53):c.536A>G (p.His179Arg) rs1057519991 0.00001
NM_000546.6(TP53):c.659A>G (p.Tyr220Cys) rs121912666 0.00001
NM_000546.6(TP53):c.711G>A (p.Met237Ile) rs587782664 0.00001
NM_000546.6(TP53):c.733G>A (p.Gly245Ser) rs28934575 0.00001
NM_000546.6(TP53):c.853G>A (p.Glu285Lys) rs112431538 0.00001
NM_000784.4(CYP27A1):c.1420C>T (p.Arg474Trp) rs121908098 0.00001
NM_000834.5(GRIN2B):c.1555C>T (p.Arg519Ter) rs774592932 0.00001
NM_001009944.3(PKD1):c.8311G>A (p.Glu2771Lys) rs1057518897 0.00001
NM_001018005.2(TPM1):c.842T>C (p.Met281Thr) rs199476321 0.00001
NM_001018115.3(FANCD2):c.1948-6C>A rs779350241 0.00001
NM_001029896.2(WDR45):c.695G>A (p.Arg232His) rs781978699 0.00001
NM_001038.6(SCNN1A):c.875+1G>A rs142439390 0.00001
NM_001042492.3(NF1):c.3827G>A (p.Arg1276Gln) rs137854556 0.00001
NM_001048174.2(MUTYH):c.773G>A (p.Gly258Glu) rs730881833 0.00001
NM_001048174.2(MUTYH):c.800C>T (p.Pro267Leu) rs374950566 0.00001
NM_001077365.2(POMT1):c.1939G>A (p.Ala647Thr) rs119462987 0.00001
NM_001077620.3(PRCD):c.74+1G>A rs779066277 0.00001
NM_001079866.2(BCS1L):c.889+1G>T rs1057516346 0.00001
NM_001098.3(ACO2):c.684+1G>T rs747330606 0.00001
NM_001122955.4(BSCL2):c.461C>T (p.Ser154Leu) rs137852973 0.00001
NM_001130987.2(DYSF):c.1276+5G>A rs766433603 0.00001
NM_001130987.2(DYSF):c.3167G>A (p.Arg1056Gln) rs150877497 0.00001
NM_001134363.3(RBM20):c.1901G>A (p.Arg634Gln) rs267607001 0.00001
NM_001142800.2(EYS):c.6528C>A (p.Tyr2176Ter) rs797045089 0.00001
NM_001145809.2(MYH14):c.590+1G>A rs371338704 0.00001
NM_001151.4(SLC25A4):c.368C>A (p.Ala123Asp) rs121912683 0.00001
NM_001164508.2(NEB):c.22489C>T (p.Arg7497Ter) rs760935667 0.00001
NM_001182.5(ALDH7A1):c.575C>T (p.Thr192Met) rs376917645 0.00001
NM_001253852.3(AP4B1):c.1216C>T (p.Arg406Ter) rs776976178 0.00001
NM_001267550.2(TTN):c.100587G>A (p.Trp33529Ter) rs1064793560 0.00001
NM_001267550.2(TTN):c.105754C>T (p.Arg35252Ter) rs886043924 0.00001
NM_001267550.2(TTN):c.105805del (p.Thr35269fs) rs752787097 0.00001
NM_001267550.2(TTN):c.107578C>T (p.Gln35860Ter) rs1009131948 0.00001
NM_001267550.2(TTN):c.35794G>T (p.Glu11932Ter) rs878854299 0.00001
NM_001267550.2(TTN):c.44816-1G>A rs749705939 0.00001
NM_001267550.2(TTN):c.48015_48016del (p.Asp16007fs) rs794729319 0.00001
NM_001267550.2(TTN):c.54166C>T (p.Arg18056Ter) rs768431507 0.00001
NM_001267550.2(TTN):c.57769C>T (p.Arg19257Ter) rs794729275 0.00001
NM_001267550.2(TTN):c.60733C>T (p.Arg20245Ter) rs1057522256 0.00001
NM_001267550.2(TTN):c.68885_68888dup (p.Ile22964fs) rs757603460 0.00001
NM_001267550.2(TTN):c.78178G>T (p.Glu26060Ter) rs794729289 0.00001
NM_001267550.2(TTN):c.80716C>T (p.Arg26906Ter) rs727505284 0.00001
NM_001267550.2(TTN):c.82240C>T (p.Arg27414Ter) rs766840243 0.00001
NM_001267550.2(TTN):c.83064_83073del (p.Ala27689fs) rs794729351 0.00001
NM_001267550.2(TTN):c.85090C>T (p.Arg28364Ter) rs770038577 0.00001
NM_001267550.2(TTN):c.88837A>T (p.Lys29613Ter) rs794729300 0.00001
NM_001267550.2(TTN):c.90697C>T (p.Arg30233Ter) rs1553539391 0.00001
NM_001267550.2(TTN):c.92317C>T (p.Arg30773Ter) rs794729301 0.00001
NM_001267550.2(TTN):c.95195C>T (p.Pro31732Leu) rs753334568 0.00001
NM_001267550.2(TTN):c.97050dup (p.Glu32351fs) rs794729365 0.00001
NM_001267550.2(TTN):c.98506C>T (p.Arg32836Ter) rs869312085 0.00001
NM_001276345.2(TNNT2):c.418C>T (p.Arg140Cys) rs397516463 0.00001
NM_001278116.2(L1CAM):c.925G>A (p.Glu309Lys) rs367665974 0.00001
NM_001283009.2(RTEL1):c.1476G>T (p.Met492Ile) rs370343781 0.00001
NM_001289808.2(CRYAB):c.343del (p.Ser115fs) rs281865142 0.00001
NM_001354768.3(NRL):c.544C>T (p.Gln182Ter) rs901811301 0.00001
NM_001360.3(DHCR7):c.1054C>T (p.Arg352Trp) rs80338860 0.00001
NM_001360.3(DHCR7):c.470T>C (p.Leu157Pro) rs753960624 0.00001
NM_001360.3(DHCR7):c.866C>T (p.Thr289Ile) rs121909765 0.00001
NM_001363711.2(DUOX2):c.3516-1G>C rs764517475 0.00001
NM_001371904.1(APOA5):c.888del (p.Ile296fs) rs1477198098 0.00001
NM_001372044.2(SHANK3):c.2455+1G>A rs1396379503 0.00001
NM_001377.3(DYNC2H1):c.244C>T (p.Arg82Ter) rs1249901214 0.00001
NM_001378615.1(CC2D2A):c.2773C>T (p.Arg925Ter) rs386833748 0.00001
NM_001384140.1(PCDH15):c.1997+1G>A rs763797356 0.00001
NM_001384474.1(LOXHD1):c.4741-1G>A rs1057524755 0.00001
NM_001613.4(ACTA2):c.445C>T (p.Arg149Cys) rs121434526 0.00001
NM_001844.5(COL2A1):c.2659C>T (p.Arg887Ter) rs1399676515 0.00001
NM_001846.4(COL4A2):c.4147G>A (p.Gly1383Arg) rs797044947 0.00001
NM_001851.6(COL9A1):c.1411C>T (p.Arg471Ter) rs745532481 0.00001
NM_001927.4(DES):c.1285C>T (p.Arg429Ter) rs150974575 0.00001
NM_001943.5(DSG2):c.137G>A (p.Arg46Gln) rs121913008 0.00001
NM_002055.5(GFAP):c.1154C>G (p.Ser385Cys) rs797044590 0.00001
NM_002074.5(GNB1):c.229G>A (p.Gly77Ser) rs758432471 0.00001
NM_002074.5(GNB1):c.239T>A (p.Ile80Asn) rs752746786 0.00001
NM_002087.4(GRN):c.708+1G>A rs63749817 0.00001
NM_002180.3(IGHMBP2):c.2362C>T (p.Arg788Ter) rs199839840 0.00001
NM_002317.7(LOX):c.1035+1G>A rs1213452826 0.00001
NM_002693.3(POLG):c.2869G>C (p.Ala957Pro) rs121918051 0.00001
NM_002693.3(POLG):c.2870C>T (p.Ala957Val) rs753160398 0.00001
NM_002693.3(POLG):c.2897T>G (p.Leu966Arg) rs142347031 0.00001
NM_002693.3(POLG):c.679C>T (p.Arg227Trp) rs121918056 0.00001
NM_002769.5(PRSS1):c.365G>A (p.Arg122His) rs111033565 0.00001
NM_002834.5(PTPN11):c.1403C>T (p.Thr468Met) rs121918457 0.00001
NM_002834.5(PTPN11):c.1508G>A (p.Gly503Glu) rs397507546 0.00001
NM_002834.5(PTPN11):c.166A>G (p.Ile56Val) rs397507504 0.00001
NM_003000.3(SDHB):c.137G>A (p.Arg46Gln) rs772551056 0.00001
NM_003000.3(SDHB):c.143A>T (p.Asp48Val) rs202101384 0.00001
NM_003000.3(SDHB):c.221A>C (p.Asp74Ala) rs876658713 0.00001
NM_003000.3(SDHB):c.380T>G (p.Ile127Ser) rs786201095 0.00001
NM_003000.3(SDHB):c.689G>A (p.Arg230His) rs587782604 0.00001
NM_003000.3(SDHB):c.725G>A (p.Arg242His) rs74315368 0.00001
NM_003038.5(SLC1A4):c.1369C>T (p.Arg457Trp) rs761533681 0.00001
NM_003052.5(SLC34A1):c.1006+1G>A rs200095793 0.00001
NM_003060.4(SLC22A5):c.632A>G (p.Tyr211Cys) rs121908888 0.00001
NM_003119.4(SPG7):c.1A>G (p.Met1Val) rs794726906 0.00001
NM_003119.4(SPG7):c.376+1G>T rs746053679 0.00001
NM_003172.4(SURF1):c.269T>C (p.Leu90Pro) rs782024654 0.00001
NM_003907.3(EIF2B5):c.1280C>T (p.Pro427Leu) rs113994078 0.00001
NM_004004.6(GJB2):c.133G>A (p.Gly45Arg) rs1326514987 0.00001
NM_004004.6(GJB2):c.246C>G (p.Ile82Met) rs781534323 0.00001
NM_004092.4(ECHS1):c.88+5G>A rs761464256 0.00001
NM_004260.4(RECQL4):c.3056-2A>C rs786200889 0.00001
NM_004281.4(BAG3):c.367C>T (p.Arg123Ter) rs387906875 0.00001
NM_004287.5(GOSR2):c.1A>G (p.Met1Val) rs879328855 0.00001
NM_004360.5(CDH1):c.1137+1G>A rs876660771 0.00001
NM_004380.3(CREBBP):c.5356C>T (p.Arg1786Cys) rs1555471394 0.00001
NM_004415.4(DSP):c.939+1G>A rs727504443 0.00001
NM_004453.4(ETFDH):c.79C>T (p.Pro27Ser) rs537038850 0.00001
NM_004483.5(GCSH):c.1A>G (p.Met1Val) rs886039730 0.00001
NM_004700.4(KCNQ4):c.961G>A (p.Gly321Ser) rs28939710 0.00001
NM_004722.4(AP4M1):c.1137+1G>T rs770705832 0.00001
NM_004985.5(KRAS):c.35G>A (p.Gly12Asp) rs121913529 0.00001
NM_005097.4(LGI1):c.406C>T (p.Arg136Trp) rs119488099 0.00001
NM_005199.5(CHRNG):c.256C>T (p.Arg86Cys) rs777219451 0.00001
NM_005359.6(SMAD4):c.1486C>T (p.Arg496Cys) rs397518413 0.00001
NM_005422.4(TECTA):c.5597C>T (p.Thr1866Met) rs140236996 0.00001
NM_005609.4(PYGM):c.1726C>T (p.Arg576Ter) rs119103255 0.00001
NM_005633.4(SOS1):c.1654A>T (p.Arg552Trp) rs137852814 0.00001
NM_005857.5(ZMPSTE24):c.1204-1G>A rs61751009 0.00001
NM_006218.4(PIK3CA):c.323G>A (p.Arg108His) rs886042002 0.00001
NM_006231.4(POLE):c.5940G>A (p.Trp1980Ter) rs1470483579 0.00001
NM_006267.5(RANBP2):c.1754C>T (p.Thr585Met) rs121434502 0.00001
NM_006516.4(SLC2A1):c.277C>T (p.Arg93Trp) rs267607061 0.00001
NM_006618.5(KDM5B):c.1321C>T (p.Arg441Ter) rs527951173 0.00001
NM_006618.5(KDM5B):c.895C>T (p.Arg299Ter) rs1558498928 0.00001
NM_006767.4(LZTR1):c.1785+1G>A rs145594158 0.00001
NM_006767.4(LZTR1):c.848G>A (p.Arg283Gln) rs1223430276 0.00001
NM_006767.4(LZTR1):c.993+1G>A rs770368435 0.00001
NM_006907.4(PYCR1):c.356G>A (p.Arg119His) rs121918377 0.00001
NM_007103.4(NDUFV1):c.349G>A (p.Ala117Thr) rs757486575 0.00001
NM_007126.5(VCP):c.476G>A (p.Arg159His) rs121909335 0.00001
NM_007254.4(PNKP):c.610C>T (p.Arg204Ter) rs796052850 0.00001
NM_007289.4(MME):c.1781-2A>G rs765231758 0.00001
NM_007294.4(BRCA1):c.4986+6T>C rs80358086 0.00001
NM_007294.4(BRCA1):c.5096G>A (p.Arg1699Gln) rs41293459 0.00001
NM_014141.6(CNTNAP2):c.3283C>T (p.Arg1095Ter) rs771533907 0.00001
NM_014363.6(SACS):c.12160C>T (p.Gln4054Ter) rs281865120 0.00001
NM_014363.6(SACS):c.434C>G (p.Ser145Ter) rs994374354 0.00001
NM_015046.7(SETX):c.994C>T (p.Arg332Trp) rs29001665 0.00001
NM_015272.5(RPGRIP1L):c.1489G>T (p.Glu497Ter) rs756821449 0.00001
NM_015386.3(COG4):c.2197C>T (p.Arg733Trp) rs267606740 0.00001
NM_015559.3(SETBP1):c.2612T>C (p.Ile871Thr) rs267607038 0.00001
NM_015665.6(AAAS):c.464G>A (p.Arg155His) rs758440592 0.00001
NM_015909.4(NBAS):c.513+2T>C rs1663675984 0.00001
NM_016219.5(MAN1B1):c.1189G>A (p.Glu397Lys) rs387906885 0.00001
NM_016239.4(MYO15A):c.7654+1G>C rs1338603862 0.00001
NM_016247.4(IMPG2):c.3262C>T (p.Arg1088Ter) rs199867882 0.00001
NM_017547.4(FOXRED1):c.86-1G>A rs768720209 0.00001
NM_018006.5(TRMU):c.2T>G (p.Met1Arg) rs118203992 0.00001
NM_018075.5(ANO10):c.2T>C (p.Met1Thr) rs531656357 0.00001
NM_018136.5(ASPM):c.9697C>T (p.Arg3233Ter) rs199422194 0.00001
NM_018941.4(CLN8):c.610C>T (p.Arg204Cys) rs104894060 0.00001
NM_019616.4(F7):c.1043G>T (p.Cys348Phe) rs121964927 0.00001
NM_020320.5(RARS2):c.1582_1583dup (p.Leu528fs) rs863224183 0.00001
NM_020451.3(SELENON):c.872G>A (p.Arg291Gln) rs199564797 0.00001
NM_020461.4(TUBGCP6):c.1833+1G>A rs886041788 0.00001
NM_021625.5(TRPV4):c.943C>T (p.Arg315Trp) rs267607143 0.00001
NM_022081.6(HPS4):c.706+1G>A rs374343385 0.00001
NM_022124.6(CDH23):c.6696del (p.Ala2232_Val2233insTer) rs1278603247 0.00001
NM_024422.6(DSC2):c.631-2A>G rs397514042 0.00001
NM_024675.4(PALB2):c.1653T>A (p.Tyr551Ter) rs118203997 0.00001
NM_025114.4(CEP290):c.1429C>T (p.Arg477Ter) rs1170451277 0.00001
NM_025114.4(CEP290):c.1781T>A (p.Leu594Ter) rs371496675 0.00001
NM_025114.4(CEP290):c.451C>T (p.Arg151Ter) rs757641323 0.00001
NM_025137.4(SPG11):c.6409C>T (p.Arg2137Ter) rs769898852 0.00001
NM_032043.3(BRIP1):c.1240C>T (p.Gln414Ter) rs368796923 0.00001
NM_032043.3(BRIP1):c.2273dup (p.Ala759fs) rs587780236 0.00001
NM_032638.5(GATA2):c.1081C>T (p.Arg361Cys) rs1426175410 0.00001
NM_033380.3(COL4A5):c.1276G>A (p.Gly426Arg) rs104886111 0.00001
NM_057175.5(NAA15):c.239_240del (p.His80fs) rs779009256 0.00001
NM_058216.3(RAD51C):c.414G>C (p.Leu138Phe) rs267606999 0.00001
NM_058216.3(RAD51C):c.905-2_905-1del rs587781995 0.00001
NM_058216.3(RAD51C):c.914G>A (p.Trp305Ter) rs876659874 0.00001
NM_133259.4(LRPPRC):c.864+2T>C rs863224053 0.00001
NM_138422.4(ADAT3):c.430G>A (p.Val144Met) rs730882213 0.00001
NM_144672.4(OTOA):c.1880+1G>A rs148690740 0.00001
NM_144997.7(FLCN):c.1522_1524del (p.Lys508del) rs398124529 0.00001
NM_145207.3(AFG2A):c.1877G>C (p.Trp626Ser) rs375343753 0.00001
NM_170707.4(LMNA):c.1003C>T (p.Arg335Trp) rs386134243 0.00001
NM_170707.4(LMNA):c.1129C>T (p.Arg377Cys) rs397517889 0.00001
NM_170707.4(LMNA):c.1412G>A (p.Arg471His) rs267607578 0.00001
NM_170707.4(LMNA):c.640-10A>G rs80356807 0.00001
NM_170707.4(LMNA):c.949G>A (p.Glu317Lys) rs56816490 0.00001
NM_178857.6(RP1L1):c.133C>T (p.Arg45Trp) rs267607017 0.00001
NM_181486.4(TBX5):c.710G>A (p.Arg237Gln) rs104894378 0.00001
NM_182548.4(LHFPL5):c.395G>A (p.Trp132Ter) rs756967336 0.00001
NM_182961.4(SYNE1):c.4561C>T (p.Arg1521Ter) rs771760718 0.00001
NM_194454.3(KRIT1):c.850C>T (p.Arg284Ter) rs374662170 0.00001
NM_198129.4(LAMA3):c.8941C>T (p.Gln2981Ter) rs772038362 0.00001
NM_201384.3(PLEC):c.6910C>T (p.Gln2304Ter) rs782107643 0.00001
NM_206933.4(USH2A):c.13316C>T (p.Thr4439Ile) rs753330544 0.00001
NM_206933.4(USH2A):c.653T>A (p.Val218Glu) rs397518026 0.00001
NM_212552.3(BOLA3):c.176G>A (p.Cys59Tyr) rs772014561 0.00001
NM_213599.3(ANO5):c.69C>A (p.Tyr23Ter) rs762035813 0.00001
NM_000017.4(ACADS):c.682_683del (p.Glu228fs) rs786204691
NM_000017.4(ACADS):c.988_990delinsTGT (p.Arg330Cys) rs796051906
NM_000018.4(ACADVL):c.829_831del (p.Glu277del) rs796051913
NM_000019.4(ACAT1):c.890C>T (p.Thr297Met) rs886041122
NM_000020.3(ACVRL1):c.140G>C (p.Arg47Pro) rs774389618
NM_000020.3(ACVRL1):c.406_409del (p.Gly136fs) rs863223416
NM_000032.5(ALAS2):c.508C>T (p.Arg170Cys) rs1557248142
NM_000033.4(ABCD1):c.1166G>A (p.Arg389His) rs886044777
NM_000033.4(ABCD1):c.1628C>T (p.Pro543Leu) rs1557054776
NM_000033.4(ABCD1):c.1866-10G>A rs398123108
NM_000038.6(APC):c.1312+3A>G rs863225311
NM_000038.6(APC):c.1866C>A (p.Tyr622Ter) rs876658355
NM_000038.6(APC):c.220+2T>A rs587781809
NM_000038.6(APC):c.3815C>G (p.Ser1272Ter) rs863225348
NM_000038.6(APC):c.475dup (p.Tyr159fs) rs863225361
NM_000038.6(APC):c.5145del (p.Asp1715fs) rs863225363
NM_000038.6(APC):c.5804dup (p.Ser1936fs) rs863225367
NM_000038.6(APC):c.935dup (p.Glu313fs) rs587781451
NM_000051.4(ATM):c.1898+2T>G rs587782124
NM_000051.4(ATM):c.2638+2T>C rs587779826
NM_000051.4(ATM):c.3245_3247delinsTGAT (p.His1082fs) rs587776549
NM_000051.4(ATM):c.331+1G>A rs1555055356
NM_000051.4(ATM):c.331+5G>A rs752135143
NM_000051.4(ATM):c.381del (p.Thr127_Val128insTer) rs587781831
NM_000051.4(ATM):c.4735C>T (p.Gln1579Ter) rs869312755
NM_000051.4(ATM):c.4741dup (p.Ile1581fs) rs864622164
NM_000051.4(ATM):c.478_482del (p.Ser160fs) rs587780624
NM_000051.4(ATM):c.4804_4805del (p.Val1602fs) rs864622290
NM_000051.4(ATM):c.5319+2T>C rs1555105842
NM_000051.4(ATM):c.5414G>A (p.Trp1805Ter) rs879254171
NM_000051.4(ATM):c.6040G>T (p.Glu2014Ter) rs375783941
NM_000051.4(ATM):c.6976-10_6989del rs587779859
NM_000051.4(ATM):c.7638_7646del (p.Arg2547_Ser2549del) rs587776547
NM_000051.4(ATM):c.7865C>T (p.Ala2622Val) rs766351395
NM_000051.4(ATM):c.8395_8404del (p.Phe2799fs) rs786202800
NM_000051.4(ATM):c.8977C>T (p.Arg2993Ter) rs770641163
NM_000053.4(ATP7B):c.778dup (p.Gln260fs) rs786204570
NM_000057.4(BLM):c.2207_2212delinsTAGATTC (p.Tyr736fs) rs113993962
NM_000059.4(BRCA2):c.125_132dup (p.Glu45fs) rs483353112
NM_000059.4(BRCA2):c.15del (p.Glu7fs) rs1064795072
NM_000059.4(BRCA2):c.1817_1819delinsTTT (p.Pro606_Lys607delinsLeuTer) rs587779358
NM_000059.4(BRCA2):c.1888dup (p.Thr630fs) rs80359314
NM_000059.4(BRCA2):c.1889del (p.Thr630fs) rs80359315
NM_000059.4(BRCA2):c.2368G>T (p.Glu790Ter) rs398122746
NM_000059.4(BRCA2):c.262_263del (p.Leu88fs) rs276174825
NM_000059.4(BRCA2):c.3059_3060del (p.Leu1019_Ser1020insTer) rs876661270
NM_000059.4(BRCA2):c.3201del (p.Val1068fs) rs864622672
NM_000059.4(BRCA2):c.3204_3207del (p.Ser1069fs) rs1555283099
NM_000059.4(BRCA2):c.3401del (p.Ser1134fs) rs1555283219
NM_000059.4(BRCA2):c.4112dup (p.Phe1372fs) rs730881606
NM_000059.4(BRCA2):c.4154C>G (p.Ser1385Ter) rs886038101
NM_000059.4(BRCA2):c.4464_4465del (p.His1488fs) rs397507720
NM_000059.4(BRCA2):c.4588A>T (p.Lys1530Ter) rs80358692
NM_000059.4(BRCA2):c.5110A>T (p.Arg1704Ter) rs1064795652
NM_000059.4(BRCA2):c.574_575del (p.Met192fs) rs80359533
NM_000059.4(BRCA2):c.6308C>A (p.Ser2103Ter) rs80358870
NM_000059.4(BRCA2):c.631G>C (p.Val211Leu) rs80358871
NM_000059.4(BRCA2):c.6643del (p.Tyr2215fs) rs80359614
NM_000059.4(BRCA2):c.6938-2A>G rs81002863
NM_000059.4(BRCA2):c.7008-1G>A rs786204280
NM_000059.4(BRCA2):c.7283T>A (p.Leu2428Ter) rs886040696
NM_000059.4(BRCA2):c.7292dup (p.Asn2431fs) rs2137557686
NM_000059.4(BRCA2):c.7719dup (p.Trp2574fs) rs80359676
NM_000059.4(BRCA2):c.7846del (p.Ser2616fs) rs397507940
NM_000059.4(BRCA2):c.7958T>C (p.Leu2653Pro) rs80359022
NM_000059.4(BRCA2):c.7975A>G (p.Arg2659Gly) rs80359026
NM_000059.4(BRCA2):c.7976G>A (p.Arg2659Lys) rs80359027
NM_000059.4(BRCA2):c.8165C>G (p.Thr2722Arg) rs80359062
NM_000059.4(BRCA2):c.8168A>T (p.Asp2723Val) rs41293513
NM_000059.4(BRCA2):c.8754+1G>T rs397508006
NM_000059.4(BRCA2):c.8755-1G>A rs81002812
NM_000059.4(BRCA2):c.8941_8944del (p.Glu2981fs) rs1593936980
NM_000059.4(BRCA2):c.9004G>A (p.Glu3002Lys) rs80359152
NM_000063.6(C2):c.841_849+19del rs9332736
NM_000070.3(CAPN3):c.2148G>T (p.Glu716Asp) rs770894443
NM_000070.3(CAPN3):c.756GAA[1] (p.Lys254del) rs794727697
NM_000071.3(CBS):c.209+1G>A rs751464024
NM_000077.5(CDKN2A):c.-16GGCGGCGGGGAGCAGCATGGAGCC[3] (p.Ala4_Pro11dup) rs587780668
NM_000077.5(CDKN2A):c.238C>T (p.Arg80Ter) rs121913388
NM_000080.4(CHRNE):c.529_531del (p.Glu177del) rs779816027
NM_000082.4(ERCC8):c.611_616del (p.Thr204_Ala205del) rs2112491212
NM_000083.3(CLCN1):c.1437_1450del (p.Pro480fs) rs768119034
NM_000083.3(CLCN1):c.411delinsGGA (p.Tyr137Ter) rs1586484463
NM_000088.4(COL1A1):c.3226G>A (p.Gly1076Ser) rs67394386
NM_000088.4(COL1A1):c.3479G>A (p.Gly1160Asp) rs886039726
NM_000088.4(COL1A1):c.3505G>A (p.Gly1169Ser) rs67815019
NM_000088.4(COL1A1):c.934C>T (p.Arg312Cys) rs72645347
NM_000089.4(COL1A2):c.1541G>C (p.Gly514Ala) rs1791962073
NM_000089.4(COL1A2):c.2233G>A (p.Gly745Arg)
NM_000089.4(COL1A2):c.2864G>A (p.Gly955Asp) rs2115952213
NM_000089.4(COL1A2):c.2989G>A (p.Gly997Ser) rs1562907287
NM_000090.4(COL3A1):c.1024G>A (p.Gly342Arg) rs794728040
NM_000090.4(COL3A1):c.1744G>A (p.Gly582Ser) rs121912923
NM_000090.4(COL3A1):c.3325C>T (p.Arg1109Ter) rs112371422
NM_000090.4(COL3A1):c.674G>C (p.Gly225Ala) rs587779533
NM_000092.5(COL4A4):c.2420del (p.Gly807fs) rs786205640
NM_000094.4(COL7A1):c.4120-1G>C rs1299648939
NM_000094.4(COL7A1):c.5532+1G>A rs767182886
NM_000094.4(COL7A1):c.8111G>A (p.Gly2704Glu) rs2107632852
NM_000098.3(CPT2):c.1324dup (p.Thr442fs) rs1131691330
NM_000098.3(CPT2):c.852del (p.Glu285fs) rs1057517729
NM_000102.4(CYP17A1):c.1435_1438dup (p.Pro480fs) rs556794126
NM_000117.3(EMD):c.60del (p.Asn20fs) rs886041854
NM_000127.3(EXT1):c.1018C>T (p.Arg340Cys) rs119103290
NM_000127.3(EXT1):c.2101C>T (p.Arg701Ter) rs1363815113
NM_000132.4(F8):c.5587-93C>T rs1264918703
NM_000136.3(FANCC):c.1069C>T (p.Gln357Ter) rs759900071
NM_000138.5(FBN1):c.1042C>T (p.Gln348Ter) rs886039550
NM_000138.5(FBN1):c.1090C>T (p.Arg364Ter) rs794728165
NM_000138.5(FBN1):c.1148-2A>G rs397515756
NM_000138.5(FBN1):c.1817C>A (p.Ser606Ter) rs794728176
NM_000138.5(FBN1):c.1948C>T (p.Arg650Cys) rs193922185
NM_000138.5(FBN1):c.2581C>T (p.Arg861Ter) rs140583
NM_000138.5(FBN1):c.2645C>T (p.Ala882Val) rs794728195
NM_000138.5(FBN1):c.401G>A (p.Cys134Tyr) rs1555405043
NM_000138.5(FBN1):c.4096G>A (p.Glu1366Lys) rs763449629
NM_000138.5(FBN1):c.4567C>T (p.Arg1523Ter) rs397515812
NM_000138.5(FBN1):c.4930C>T (p.Arg1644Ter) rs140630
NM_000138.5(FBN1):c.493C>T (p.Arg165Ter) rs113905529
NM_000138.5(FBN1):c.5014T>G (p.Cys1672Gly) rs112930491
NM_000138.5(FBN1):c.5015G>A (p.Cys1672Tyr) rs140627
NM_000138.5(FBN1):c.5183C>T (p.Ala1728Val) rs1131691804
NM_000138.5(FBN1):c.6487G>T (p.Glu2163Ter) rs1555395191
NM_000138.5(FBN1):c.6658C>T (p.Arg2220Ter) rs113001196
NM_000138.5(FBN1):c.7330+3_7330+6del rs1597516325
NM_000138.5(FBN1):c.7453+1G>A rs397515851
NM_000138.5(FBN1):c.7775G>A (p.Cys2592Tyr) rs112118237
NM_000141.5(FGFR2):c.1040C>G (p.Ser347Cys) rs121918494
NM_000141.5(FGFR2):c.2032A>G (p.Arg678Gly) rs1845559552
NM_000141.5(FGFR2):c.758C>G (p.Pro253Arg) rs77543610
NM_000142.5(FGFR3):c.1118A>G (p.Tyr373Cys) rs121913485
NM_000142.5(FGFR3):c.1619A>C (p.Asn540Thr) rs77722678
NM_000142.5(FGFR3):c.667C>T (p.Arg223Cys) rs1721198491
NM_000142.5(FGFR3):c.746C>G (p.Ser249Cys) rs121913483
NM_000143.4(FH):c.1390+1G>T rs886039367
NM_000143.4(FH):c.1431_1433dup (p.Lys477dup) rs367543046
NM_000143.4(FH):c.668_669del (p.Lys223fs) rs886039364
NM_000151.4(G6PC1):c.79del (p.Gln27fs) rs80356479
NM_000152.5(GAA):c.2236T>C (p.Trp746Arg) rs1479740763
NM_000152.5(GAA):c.2237G>C (p.Trp746Ser) rs752921215
NM_000152.5(GAA):c.2238G>C (p.Trp746Cys) rs1800312
NM_000156.6(GAMT):c.503A>C (p.Tyr168Ser) rs1131691644
NM_000162.5(GCK):c.1136C>T (p.Ala379Val) rs193922265
NM_000162.5(GCK):c.1322C>G (p.Ser441Trp) rs1286804191
NM_000162.5(GCK):c.214G>A (p.Gly72Arg) rs193922289
NM_000162.5(GCK):c.533G>A (p.Gly178Glu) rs886039380
NM_000162.5(GCK):c.572G>A (p.Arg191Gln) rs886042610
NM_000162.5(GCK):c.617C>T (p.Thr206Met) rs1441649062
NM_000162.5(GCK):c.775G>A (p.Ala259Thr) rs1375656631
NM_000162.5(GCK):c.952G>A (p.Gly318Arg) rs193922340
NM_000166.6(GJB1):c.164C>T (p.Thr55Ile) rs104894824
NM_000166.6(GJB1):c.547C>T (p.Arg183Cys) rs863224471
NM_000169.3(GLA):c.1072_1074del (p.Glu358del) rs730880453
NM_000169.3(GLA):c.1125_1140del (p.Val376fs) rs876661347
NM_000169.3(GLA):c.713G>A (p.Ser238Asn) rs730880450
NM_000179.3(MSH6):c.1115G>A (p.Trp372Ter) rs1114167731
NM_000179.3(MSH6):c.1135_1139del (p.Arg378_Arg379insTer) rs267608077
NM_000179.3(MSH6):c.1168_1170delinsAA (p.Asp390fs) rs863225398
NM_000179.3(MSH6):c.1352del (p.Phe451fs) rs869312769
NM_000179.3(MSH6):c.1483C>T (p.Arg495Ter) rs587779212
NM_000179.3(MSH6):c.2050del (p.Ala683_Leu684insTer) rs1553413424
NM_000179.3(MSH6):c.2061T>A (p.Cys687Ter) rs267608068
NM_000179.3(MSH6):c.2230dup (p.Glu744fs) rs786201050
NM_000179.3(MSH6):c.2932C>T (p.Gln978Ter) rs587781372
NM_000179.3(MSH6):c.3037_3041del (p.Lys1013fs) rs587782712
NM_000179.3(MSH6):c.3268_3274del (p.Glu1090fs) rs587779259
NM_000179.3(MSH6):c.3476dup (p.Tyr1159Ter) rs587782111
NM_000179.3(MSH6):c.3528_3532del (p.Leu1177fs) rs863225408
NM_000179.3(MSH6):c.3716_3717del (p.Ile1239fs) rs1064794384
NM_000179.3(MSH6):c.3753_3756dup (p.Val1253fs) rs876661222
NM_000179.3(MSH6):c.3799_3800del (p.Met1267fs) rs267608114
NM_000179.3(MSH6):c.3850dup (p.Thr1284fs) rs1553333421
NM_000179.3(MSH6):c.3878_3881dup (p.Pro1295fs) rs1553333500
NM_000179.3(MSH6):c.3980_3983dup (p.Leu1330fs) rs1553333738
NM_000179.3(MSH6):c.3991C>T (p.Arg1331Ter) rs267608094
NM_000179.3(MSH6):c.694C>T (p.Gln232Ter) rs587779318
NM_000186.4(CFH):c.694C>T (p.Arg232Ter) rs755790570
NM_000188.3(HK1):c.1334C>T (p.Ser445Leu) rs1064794848
NM_000206.3(IL2RG):c.670C>T (p.Arg224Trp) rs869320658
NM_000207.2(INS):c.-152C>A rs748749585
NM_000207.3(INS):c.163C>T (p.Arg55Cys) rs121908261
NM_000213.5(ITGB4):c.2254+1G>T
NM_000218.3(KCNQ1):c.1024C>T (p.Leu342Phe) rs199472760
NM_000218.3(KCNQ1):c.1046C>G (p.Ser349Trp) rs199472765
NM_000218.3(KCNQ1):c.1075C>T (p.Gln359Ter) rs397508075
NM_000218.3(KCNQ1):c.1097G>A (p.Arg366Gln) rs199473410
NM_000218.3(KCNQ1):c.1383T>A (p.Tyr461Ter) rs794728527
NM_000218.3(KCNQ1):c.1394-1G>T rs775537394
NM_000218.3(KCNQ1):c.1559T>G (p.Met520Arg) rs199473479
NM_000218.3(KCNQ1):c.1565A>C (p.Tyr522Ser) rs199472789
NM_000218.3(KCNQ1):c.1573G>A (p.Ala525Thr) rs120074188
NM_000218.3(KCNQ1):c.1637C>T (p.Ser546Leu) rs199473480
NM_000218.3(KCNQ1):c.1669A>G (p.Lys557Glu) rs199472801
NM_000218.3(KCNQ1):c.1685+1G>A rs794728531
NM_000218.3(KCNQ1):c.1700T>C (p.Ile567Thr) rs199472805
NM_000218.3(KCNQ1):c.1702G>A (p.Gly568Arg) rs199472807
NM_000218.3(KCNQ1):c.1893dup (p.Arg632fs) rs397508104
NM_000218.3(KCNQ1):c.532G>A (p.Ala178Thr) rs120074177
NM_000218.3(KCNQ1):c.568C>T (p.Arg190Trp) rs199473662
NM_000218.3(KCNQ1):c.569G>T (p.Arg190Leu) rs120074178
NM_000218.3(KCNQ1):c.573_577del (p.Arg192fs) rs397508118
NM_000218.3(KCNQ1):c.724G>A (p.Asp242Asn) rs199472712
NM_000218.3(KCNQ1):c.775C>T (p.Arg259Cys) rs199472719
NM_000218.3(KCNQ1):c.776G>T (p.Arg259Leu) rs199472720
NM_000218.3(KCNQ1):c.797T>C (p.Leu266Pro) rs199473460
NM_000218.3(KCNQ1):c.905C>A (p.Ala302Glu) rs193922365
NM_000218.3(KCNQ1):c.921+1G>T rs397508130
NM_000218.3(KCNQ1):c.935C>T (p.Thr312Ile) rs120074182
NM_000218.3(KCNQ1):c.964A>G (p.Thr322Ala) rs199472754
NM_000218.3(KCNQ1):c.965C>G (p.Thr322Arg) rs199472755
NM_000218.3(KCNQ1):c.973G>A (p.Gly325Arg) rs199472756
NM_000238.4(KCNH2):c.1421C>T (p.Thr474Ile) rs199472906
NM_000238.4(KCNH2):c.1468G>A (p.Ala490Thr) rs28928905
NM_000238.4(KCNH2):c.157G>C (p.Gly53Arg) rs199472842
NM_000238.4(KCNH2):c.164C>T (p.Ser55Leu) rs199472844
NM_000238.4(KCNH2):c.1684C>T (p.His562Tyr) rs794728481
NM_000238.4(KCNH2):c.1838C>T (p.Thr613Met) rs199473524
NM_000238.4(KCNH2):c.1882G>A (p.Gly628Ser) rs121912507
NM_000238.4(KCNH2):c.1894C>T (p.Pro632Ser) rs199473527
NM_000238.4(KCNH2):c.1946-1G>A rs794728375
NM_000238.4(KCNH2):c.2003C>A (p.Ser668Ter) rs749211387
NM_000238.4(KCNH2):c.209A>G (p.His70Arg) rs199473419
NM_000238.4(KCNH2):c.2145+1G>A rs886039385
NM_000238.4(KCNH2):c.214C>T (p.Pro72Ser) rs794728411
NM_000238.4(KCNH2):c.215C>T (p.Pro72Leu) rs199473421
NM_000238.4(KCNH2):c.2414T>G (p.Phe805Cys) rs199472999
NM_000238.4(KCNH2):c.2510A>G (p.Asp837Gly) rs199473004
NM_000238.4(KCNH2):c.2766del (p.Pro923fs) rs1554424403
NM_000238.4(KCNH2):c.2966-2_2967dup rs794728464
NM_000238.4(KCNH2):c.3099_3112del (p.Pro1034fs) rs1554424044
NM_000243.3(MEFV):c.2076_2078del (p.Ile692del) rs104895093
NM_000249.4(MLH1):c.1038G>A (p.Gln346=) rs63751715
NM_000249.4(MLH1):c.1409+1G>A rs267607825
NM_000249.4(MLH1):c.1409+1G>T rs267607825
NM_000249.4(MLH1):c.1731G>A (p.Ser577=) rs63751657
NM_000249.4(MLH1):c.2041G>A (p.Ala681Thr) rs63750217
NM_000249.4(MLH1):c.2252_2253del (p.Lys751fs) rs267607901
NM_000249.4(MLH1):c.283del (p.Ser95fs) rs1064795441
NM_000249.4(MLH1):c.381-1G>A rs267607744
NM_000249.4(MLH1):c.583A>T (p.Lys195Ter) rs863225383
NM_000249.4(MLH1):c.677G>T (p.Arg226Leu) rs63751711
NM_000249.4(MLH1):c.790+1G>A rs267607789
NM_000250.2(MPO):c.1555_1568del (p.Met519fs) rs536522394
NM_000251.3(MSH2):c.1229del (p.Gly410fs) rs1553356700
NM_000251.3(MSH2):c.1276+2T>C rs267607953
NM_000251.3(MSH2):c.1566C>A (p.Tyr522Ter) rs63750224
NM_000251.3(MSH2):c.1661+1G>A rs267607969
NM_000251.3(MSH2):c.1911del (p.Arg638fs) rs63750893
NM_000251.3(MSH2):c.20del (p.Glu7fs) rs267607915
NM_000251.3(MSH2):c.2458+1G>A rs267608010
NM_000251.3(MSH2):c.2502_2508del (p.Asn835fs) rs63751447
NM_000251.3(MSH2):c.871del (p.Glu290_Leu291insTer) rs1064794809
NM_000252.3(MTM1):c.614C>T (p.Pro205Leu) rs587783841
NM_000256.3(MYBPC3):c.1015C>T (p.Gln339Ter) rs730880631
NM_000256.3(MYBPC3):c.1084dup (p.Ser362fs) rs730880723
NM_000256.3(MYBPC3):c.1090+1G>A rs727504269
NM_000256.3(MYBPC3):c.1224-2A>G rs397515891
NM_000256.3(MYBPC3):c.1483C>G (p.Arg495Gly) rs397515905
NM_000256.3(MYBPC3):c.1522C>T (p.Gln508Ter) rs730880544
NM_000256.3(MYBPC3):c.1577_1580dup (p.Cys528fs) rs730880712
NM_000256.3(MYBPC3):c.1838dup (p.Asp613fs) rs730880649
NM_000256.3(MYBPC3):c.1898-1G>A rs730880558
NM_000256.3(MYBPC3):c.2670G>A (p.Trp890Ter) rs397515982
NM_000256.3(MYBPC3):c.2792dup (p.Lys932fs) rs730880716
NM_000256.3(MYBPC3):c.2833_2834del (p.Arg945fs) rs397515987
NM_000256.3(MYBPC3):c.2905+1G>A rs397515991
NM_000256.3(MYBPC3):c.2995-1G>A rs730880584
NM_000256.3(MYBPC3):c.3330+5G>C rs373746463
NM_000256.3(MYBPC3):c.3330+5G>T rs373746463
NM_000256.3(MYBPC3):c.3732C>A (p.Cys1244Ter) rs730880600
NM_000256.3(MYBPC3):c.3742_3759dup (p.Gly1248_Cys1253dup) rs193922384
NM_000256.3(MYBPC3):c.459del (p.Ile154fs) rs397516052
NM_000256.3(MYBPC3):c.551dup (p.Lys185fs) rs397516059
NM_000256.3(MYBPC3):c.655G>C (p.Val219Leu) rs397516068
NM_000256.3(MYBPC3):c.833del (p.Gly278fs) rs727503212
NM_000257.4(MYH7):c.1208G>T (p.Arg403Leu) rs121913624
NM_000257.4(MYH7):c.1750G>C (p.Gly584Arg) rs121913626
NM_000257.4(MYH7):c.2156G>A (p.Arg719Gln) rs121913641
NM_000257.4(MYH7):c.2163G>T (p.Arg721Ser) rs730880734
NM_000257.4(MYH7):c.2207T>C (p.Ile736Thr) rs727503261
NM_000257.4(MYH7):c.2221G>T (p.Gly741Trp) rs121913632
NM_000257.4(MYH7):c.2302G>A (p.Gly768Arg) rs727503260
NM_000257.4(MYH7):c.2334C>G (p.Asp778Glu) rs2069544
NM_000257.4(MYH7):c.2770G>A (p.Glu924Lys) rs121913628
NM_000257.4(MYH7):c.2782G>A (p.Asp928Asn) rs727503252
NM_000257.4(MYH7):c.2788G>C (p.Glu930Gln) rs397516171
NM_000257.4(MYH7):c.4844AGA[2] (p.Lys1617del) rs121913648
NM_000257.4(MYH7):c.602T>C (p.Ile201Thr) rs397516258
NM_000257.4(MYH7):c.732+1G>A rs730880850
NM_000257.4(MYH7):c.740T>G (p.Phe247Cys) rs730880922
NM_000257.4(MYH7):c.746G>A (p.Arg249Gln) rs3218713
NM_000257.4(MYH7):c.788T>C (p.Ile263Thr) rs397516269
NM_000260.4(MYO7A):c.2283-1G>T rs397516295
NM_000260.4(MYO7A):c.5749G>T (p.Glu1917Ter) rs780609120
NM_000260.4(MYO7A):c.689C>T (p.Ala230Val) rs797044512
NM_000264.5(PTCH1):c.114del (p.Leu39fs) rs751977093
NM_000264.5(PTCH1):c.2833C>T (p.Arg945Ter) rs1064794260
NM_000271.5(NPC1):c.3734_3735del (p.Pro1245fs) rs1064794009
NM_000275.3(OCA2):c.2338+2T>G rs1064796956
NM_000275.3(OCA2):c.619_636del (p.Leu207_Leu212del) rs767489236
NM_000276.4(OCRL):c.940-11G>A rs776743373
NM_000284.4(PDHA1):c.1100A>C (p.His367Pro) rs1131691584
NM_000284.4(PDHA1):c.1142_1145dup (p.Trp383fs) rs606231189
NM_000284.4(PDHA1):c.491A>G (p.Asn164Ser) rs1555933963
NM_000293.3(PHKB):c.1972-2A>G rs964263812
NM_000293.3(PHKB):c.2457del (p.Glu820fs) rs1322527832
NM_000297.4(PKD2):c.1320G>T (p.Arg440Ser) rs886041114
NM_000303.3(PMM2):c.710C>G (p.Thr237Arg) rs80338708
NM_000304.4(PMP22):c.245T>C (p.Leu82Pro) rs878853113
NM_000314.8(PTEN):c.103A>G (p.Met35Val) rs876659443
NM_000314.8(PTEN):c.331T>C (p.Trp111Arg) rs398123321
NM_000314.8(PTEN):c.367C>T (p.His123Tyr) rs786204931
NM_000314.8(PTEN):c.389G>A (p.Arg130Gln) rs121909229
NM_000314.8(PTEN):c.395G>A (p.Gly132Asp) rs121909241
NM_000314.8(PTEN):c.39_40del (p.Arg14fs) rs587776671
NM_000314.8(PTEN):c.737C>T (p.Pro246Leu) rs587782350
NM_000314.8(PTEN):c.781C>T (p.Gln261Ter) rs730882131
NM_000314.8(PTEN):c.94ATT[1] (p.Ile33del) rs1554893765
NM_000322.5(PRPH2):c.303C>G (p.Tyr101Ter) rs61755776
NM_000322.5(PRPH2):c.514C>T (p.Arg172Trp) rs61755792
NM_000322.5(PRPH2):c.629C>G (p.Pro210Arg) rs61755798
NM_000322.5(PRPH2):c.715C>T (p.Gln239Ter) rs61755814
NM_000322.5(PRPH2):c.748T>A (p.Cys250Ser) rs1064793931
NM_000322.5(PRPH2):c.797G>A (p.Gly266Asp) rs62645935
NM_000334.4(SCN4A):c.4343G>A (p.Arg1448His) rs121908545
NM_000335.5(SCN5A):c.1338+2T>A rs786204839
NM_000335.5(SCN5A):c.1891-1G>A rs794728858
NM_000335.5(SCN5A):c.2440C>T (p.Arg814Trp) rs199473161
NM_000335.5(SCN5A):c.2575C>T (p.Gln859Ter) rs794728865
NM_000335.5(SCN5A):c.2989G>T (p.Ala997Ser) rs137854609
NM_000335.5(SCN5A):c.3943C>T (p.Arg1315Ter) rs1553695764
NM_000335.5(SCN5A):c.3961-2_3961del rs794728921
NM_000335.5(SCN5A):c.3971A>G (p.Asn1324Ser) rs28937317
NM_000335.5(SCN5A):c.3985G>A (p.Ala1329Thr) rs199473224
NM_000335.5(SCN5A):c.4243-2del rs794728943
NM_000335.5(SCN5A):c.483-1G>A rs794728846
NM_000335.5(SCN5A):c.5461_5464del (p.Glu1822fs) rs794728924
NM_000342.4(SLC4A1):c.1030C>T (p.Arg344Ter) rs750930293
NM_000346.4(SOX9):c.508C>T (p.Pro170Ser) rs866706988
NM_000350.3(ABCA4):c.2948C>T (p.Thr983Ile) rs61752411
NM_000350.3(ABCA4):c.4537dup (p.Gln1513fs) rs281865377
NM_000350.3(ABCA4):c.6215G>A (p.Ser2072Asn) rs1553186514
NM_000352.6(ABCC8):c.2835_2838del (p.Arg946fs) rs1554913069
NM_000352.6(ABCC8):c.4613G>A (p.Arg1538Gln) rs1564869850
NM_000359.3(TGM1):c.1166G>A (p.Arg389His) rs121918723
NM_000363.5(TNNI3):c.470C>T (p.Ala157Val) rs397516353
NM_000363.5(TNNI3):c.509G>A (p.Arg170Gln) rs727503503
NM_000363.5(TNNI3):c.611G>A (p.Arg204His) rs727504275
NM_000368.5(TSC1):c.737+3A>G rs118203439
NM_000369.5(TSHR):c.1963_1964del (p.Thr655fs) rs761918916
NM_000371.4(TTR):c.379A>G (p.Ile127Val) rs121918089
NM_000371.4(TTR):c.401A>G (p.Tyr134Cys) rs121918075
NM_000372.5(TYR):c.286dup (p.Met96fs) rs61753190
NM_000377.3(WAS):c.360+1G>T rs1057520700
NM_000382.3(ALDH3A2):c.1297_1298del (p.Glu433fs) rs387906256
NM_000388.4(CASR):c.379G>A (p.Glu127Lys) rs2074565202
NM_000388.4(CASR):c.679C>T (p.Arg227Ter) rs1085307984
NM_000391.4(TPP1):c.509-1G>T rs56144125
NM_000399.5(EGR2):c.1066G>A (p.Glu356Lys) rs751448371
NM_000400.4(ERCC2):c.1703_1704del (p.Phe568fs) rs587778271
NM_000400.4(ERCC2):c.594+2_594+5del rs762309206
NM_000424.4(KRT5):c.980T>C (p.Met327Thr) rs58072617
NM_000426.4(LAMA2):c.1762del (p.Ala588fs) rs786205654
NM_000426.4(LAMA2):c.8245-2A>G rs914395925
NM_000432.4(MYL2):c.3+1G>T rs730880948
NM_000432.4(MYL2):c.484G>A (p.Gly162Arg) rs199474814
NM_000432.4(MYL2):c.52T>C (p.Phe18Leu) rs104894370
NM_000432.4(MYL2):c.64G>A (p.Glu22Lys) rs104894368
NM_000435.3(NOTCH3):c.397C>T (p.Arg133Cys) rs137852642
NM_000435.3(NOTCH3):c.505C>T (p.Arg169Cys) rs28933696
NM_000441.2(SLC26A4):c.1204G>A (p.Val402Met) rs397516414
NM_000441.2(SLC26A4):c.170C>G (p.Ser57Ter) rs111033200
NM_000441.2(SLC26A4):c.716T>A (p.Val239Asp) rs111033256
NM_000455.5(STK11):c.200T>C (p.Leu67Pro) rs137853077
NM_000455.5(STK11):c.580G>A (p.Asp194Asn) rs121913315
NM_000459.5(TEK):c.2743C>T (p.Arg915Cys) rs1825682922
NM_000466.3(PEX1):c.2097dup (p.Ile700fs) rs61750415
NM_000466.3(PEX1):c.2922del (p.Leu974fs) rs762324548
NM_000466.3(PEX1):c.3303_3304dup (p.Cys1102fs) rs886043558
NM_000466.3(PEX1):c.3574C>T (p.Gln1192Ter) rs1057517467
NM_000478.6(ALPL):c.746G>T (p.Gly249Val) rs121918018
NM_000478.6(ALPL):c.978CTT[2] (p.Phe328del) rs753338851
NM_000489.6(ATRX):c.6253C>T (p.Arg2085Cys) rs2148019913
NM_000489.6(ATRX):c.7366_7367del (p.Met2456fs) rs797044723
NM_000489.6(ATRX):c.736C>T (p.Arg246Cys) rs122445105
NM_000492.3(CFTR):c.1210-12T[5] rs1805177
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del) rs113993960
NM_000492.4(CFTR):c.1367T>C (p.Val456Ala) rs193922500
NM_000492.4(CFTR):c.350G>A (p.Arg117His) rs78655421
NM_000496.3(CRYBB2):c.463C>T (p.Gln155Ter) rs74315489
NM_000512.5(GALNS):c.1228G>T (p.Glu410Ter) rs1567519109
NM_000516.7(GNAS):c.-4_2del (p.Met1del) rs1085307719
NM_000516.7(GNAS):c.494G>A (p.Arg165His) rs2090976265
NM_000516.7(GNAS):c.682C>T (p.Arg228Cys) rs2146278555
NM_000516.7(GNAS):c.691C>T (p.Arg231Cys) rs1601162438
NM_000516.7(GNAS):c.773G>A (p.Arg258Gln) rs1555891584
NM_000518.4(HBB):c.364G>C (p.Glu122Gln) rs33946267
NM_000518.5(HBB):c.316-3C>A rs33913413
NM_000520.6(HEXA):c.748G>A (p.Gly250Ser) rs1057521137
NM_000521.4(HEXB):c.115del (p.Val39fs) rs398123443
NM_000527.4(LDLR):c.313+1G>A
NM_000527.5(LDLR):c.1027G>A (p.Gly343Ser)
NM_000527.5(LDLR):c.1216C>T (p.Arg406Trp)
NM_000527.5(LDLR):c.1291G>A (p.Ala431Thr)
NM_000527.5(LDLR):c.1358+2T>A rs193922567
NM_000527.5(LDLR):c.1432G>A (p.Gly478Arg)
NM_000527.5(LDLR):c.1783C>T (p.Arg595Trp)
NM_000527.5(LDLR):c.1999T>C (p.Cys667Arg)
NM_000527.5(LDLR):c.2475C>G (p.Asn825Lys) rs374045590
NM_000527.5(LDLR):c.2483A>G (p.Tyr828Cys)
NM_000527.5(LDLR):c.313+5G>A
NM_000527.5(LDLR):c.463T>G (p.Cys155Gly) rs879254535
NM_000527.5(LDLR):c.519C>G (p.Cys173Trp) rs769318035
NM_000527.5(LDLR):c.551G>A (p.Cys184Tyr)
NM_000527.5(LDLR):c.589T>G (p.Cys197Gly) rs730882085
NM_000527.5(LDLR):c.622G>A (p.Glu208Lys) rs879254597
NM_000527.5(LDLR):c.661G>A (p.Asp221Asn) rs875989906
NM_000527.5(LDLR):c.682G>A (p.Glu228Lys)
NM_000527.5(LDLR):c.81C>G (p.Cys27Trp)
NM_000527.5(LDLR):c.827G>A (p.Cys276Tyr) rs730882089
NM_000527.5(LDLR):c.858C>A (p.Ser286Arg) rs140241383
NM_000527.5(LDLR):c.938_939delinsAT (p.Cys313Tyr) rs875989910
NM_000530.8(MPZ):c.448+1G>A
NM_000530.8(MPZ):c.68-1G>C rs1057518021
NM_000531.6(OTC):c.119G>A (p.Arg40His) rs72554308
NM_000535.7(PMS2):c.116del (p.Val39fs) rs1064794152
NM_000535.7(PMS2):c.137G>A (p.Ser46Asn) rs121434629
NM_000535.7(PMS2):c.1A>C (p.Met1Leu) rs587779333
NM_000535.7(PMS2):c.1A>T (p.Met1Leu) rs587779333
NM_000535.7(PMS2):c.2095G>C (p.Asp699His) rs587781317
NM_000535.7(PMS2):c.251-2A>C rs587779340
NM_000535.7(PMS2):c.756_757del (p.Cys252_Glu253delinsTer) rs1064794905
NM_000535.7(PMS2):c.7C>T (p.Arg3Ter) rs763939668
NM_000540.3(RYR1):c.12063_12064dup (p.Met4022fs) rs1419938249
NM_000540.3(RYR1):c.12319del (p.Ile4107fs) rs754572007
NM_000540.3(RYR1):c.14210G>A (p.Arg4737Gln) rs193922868
NM_000540.3(RYR1):c.1440+2T>G rs1555767403
NM_000540.3(RYR1):c.14416A>G (p.Asn4806Asp) rs886039586
NM_000540.3(RYR1):c.14678G>A (p.Arg4893Gln) rs118192151
NM_000540.3(RYR1):c.14693T>C (p.Ile4898Thr) rs118192170
NM_000540.3(RYR1):c.14761TTC[3] (p.Phe4924del) rs1064794572
NM_000540.3(RYR1):c.2683-1G>A rs2145434598
NM_000540.3(RYR1):c.3801dup (p.Cys1268fs) rs587784374
NM_000540.3(RYR1):c.6127+1G>A rs1283302989
NM_000540.3(RYR1):c.7304G>T (p.Arg2435Leu) rs28933396
NM_000540.3(RYR1):c.7354C>T (p.Arg2452Trp) rs118192124
NM_000540.3(RYR1):c.7523G>A (p.Arg2508His) rs193922818
NM_000540.3(RYR1):c.9001-2A>G rs774119942
NM_000545.8(HNF1A):c.779C>T (p.Thr260Met) rs886039544
NM_000545.8(HNF1A):c.864del (p.Pro291fs) rs762703502
NM_000546.6(TP53):c.1040C>A (p.Ala347Asp) rs397516434
NM_000546.6(TP53):c.380C>T (p.Ser127Phe) rs730881999
NM_000546.6(TP53):c.577C>T (p.His193Tyr) rs876658468
NM_000546.6(TP53):c.578A>G (p.His193Arg) rs786201838
NM_000546.6(TP53):c.646G>A (p.Val216Met) rs730882025
NM_000546.6(TP53):c.701A>G (p.Tyr234Cys) rs587780073
NM_000546.6(TP53):c.722C>A (p.Ser241Tyr) rs28934573
NM_000546.6(TP53):c.722C>T (p.Ser241Phe) rs28934573
NM_000546.6(TP53):c.731G>A (p.Gly244Asp) rs985033810
NM_000546.6(TP53):c.734G>A (p.Gly245Asp) rs121912656
NM_000546.6(TP53):c.751A>C (p.Ile251Leu) rs730882007
NM_000546.6(TP53):c.818G>A (p.Arg273His) rs28934576
NM_000546.6(TP53):c.818G>T (p.Arg273Leu) rs28934576
NM_000546.6(TP53):c.856G>A (p.Glu286Lys) rs786201059
NM_000546.6(TP53):c.920-2A>G rs397516439
NM_000548.5(TSC2):c.1283_1285del (p.Ser428del) rs137853983
NM_000548.5(TSC2):c.2113G>A (p.Val705Met) rs397515241
NM_000548.5(TSC2):c.32del (p.Gly10_Leu11insTer) rs796053515
NM_000548.5(TSC2):c.4569+1G>A rs1060500972
NM_000550.3(TYRP1):c.1057_1060del (p.Asn353fs) rs387906562
NM_000551.4(VHL):c.191G>C (p.Arg64Pro) rs104893826
NM_000553.6(WRN):c.1165del (p.Arg389fs) rs878854131
NM_000701.8(ATP1A1):c.1645G>A (p.Gly549Arg) rs2101052251
NM_000702.4(ATP1A2):c.1127C>T (p.Thr376Met) rs121918620
NM_000719.7(CACNA1C):c.1552C>T (p.Arg518Cys) rs786205748
NM_000719.7(CACNA1C):c.2573G>A (p.Arg858His) rs786205753
NM_000784.4(CYP27A1):c.1435C>G (p.Arg479Gly) rs72551322
NM_000789.4(ACE):c.47_70del (p.Leu16_Pro23del) rs983649759
NM_000814.6(GABRB3):c.358G>A (p.Asp120Asn) rs886037938
NM_000814.6(GABRB3):c.905A>G (p.Tyr302Cys) rs1889966424
NM_000827.4(GRIA1):c.1906G>A (p.Ala636Thr) rs587776937
NM_000834.5(GRIN2B):c.1672G>A (p.Val558Ile) rs1057519004
NM_000834.5(GRIN2B):c.2084T>C (p.Ile695Thr) rs876661219
NM_000834.5(GRIN2B):c.2515G>A (p.Glu839Lys) rs1085307547
NM_000834.5(GRIN2B):c.2539C>T (p.Arg847Ter) rs879253931
NM_000891.3(KCNJ2):c.245G>A (p.Arg82Gln) rs199473653
NM_000965.5(RARB):c.844G>A (p.Gly282Ser) rs1553637463
NM_001001331.4(ATP2B2):c.1327TTC[1] (p.Phe444del) rs1553564078
NM_001001331.4(ATP2B2):c.2136+1G>A rs1553652886
NM_001003800.2(BICD2):c.2080C>T (p.Arg694Cys) rs797045412
NM_001005242.3(PKP2):c.2167+1G>A rs794729116
NM_001005242.3(PKP2):c.253_256del (p.Glu85fs) rs786204388
NM_001005361.3(DNM2):c.1393C>T (p.Arg465Trp) rs121909091
NM_001005361.3(DNM2):c.1565G>A (p.Arg522His) rs587783595
NM_001009944.3(PKD1):c.11525G>A (p.Trp3842Ter) rs1596481464
NM_001009944.3(PKD1):c.412C>T (p.Arg138Ter) rs1596591955
NM_001009944.3(PKD1):c.4551C>A (p.Tyr1517Ter) rs1238351274
NM_001009944.3(PKD1):c.7327G>T (p.Gly2443Ter) rs1567186165
NM_001009944.3(PKD1):c.8369del (p.Pro2790fs) rs1057518604
NM_001018005.2(TPM1):c.160G>A (p.Glu54Lys) rs104894505
NM_001018005.2(TPM1):c.284T>C (p.Val95Ala) rs104894504
NM_001018005.2(TPM1):c.574G>A (p.Glu192Lys) rs199476315
NM_001032221.6(STXBP1):c.416C>T (p.Pro139Leu) rs796053353
NM_001032221.6(STXBP1):c.569G>A (p.Arg190Gln) rs796053356
NM_001032221.6(STXBP1):c.87+1G>A rs796053350
NM_001032221.6(STXBP1):c.874C>T (p.Arg292Cys) rs786205598
NM_001032221.6(STXBP1):c.875G>A (p.Arg292His) rs796053361
NM_001034853.2(RPGR):c.219del (p.Ala74fs) rs1601982474
NM_001035.3(RYR2):c.1259G>A (p.Arg420Gln) rs794728721
NM_001035.3(RYR2):c.14251A>C (p.Lys4751Gln) rs794728802
NM_001035.3(RYR2):c.14876G>A (p.Arg4959Gln) rs794728811
NM_001035.3(RYR2):c.506G>T (p.Arg169Leu) rs397516539
NM_001035.3(RYR2):c.5170G>A (p.Glu1724Lys) rs794728740
NM_001035.3(RYR2):c.7202G>A (p.Arg2401His) rs794728756
NM_001039591.3(USP9X):c.82dup (p.Leu28fs) rs758083405
NM_001040142.2(SCN2A):c.2548C>T (p.Arg850Ter) rs1553578503
NM_001040142.2(SCN2A):c.2567G>A (p.Arg856Gln) rs797045942
NM_001040142.2(SCN2A):c.2654C>T (p.Thr885Ile) rs1699477928
NM_001040142.2(SCN2A):c.3947C>T (p.Ala1316Val) rs796053130
NM_001040142.2(SCN2A):c.3956G>A (p.Arg1319Gln)
NM_001040142.2(SCN2A):c.4904G>A (p.Arg1635Gln) rs1057520844
NM_001040142.2(SCN2A):c.5317G>A (p.Ala1773Thr) rs796053162
NM_001040142.2(SCN2A):c.5645G>A (p.Arg1882Gln) rs794727444
NM_001040142.2(SCN2A):c.781G>A (p.Val261Met) rs1057520413
NM_001042492.3(NF1):c.1019_1020del (p.Ser340fs) rs1555610903
NM_001042492.3(NF1):c.1063-2A>G rs1060500358
NM_001042492.3(NF1):c.1642-449A>G rs863224655
NM_001042492.3(NF1):c.1748A>G (p.Lys583Arg) rs199474760
NM_001042492.3(NF1):c.204+1G>T rs886039548
NM_001042492.3(NF1):c.2268del (p.Arg758fs) rs2151426865
NM_001042492.3(NF1):c.2325+3A>G rs1057517848
NM_001042492.3(NF1):c.2410-12T>G rs876657932
NM_001042492.3(NF1):c.2503C>T (p.Gln835Ter) rs1555614207
NM_001042492.3(NF1):c.2540T>C (p.Leu847Pro) rs199474747
NM_001042492.3(NF1):c.2991-2A>G rs1555614495
NM_001042492.3(NF1):c.3113+1G>C rs267606599
NM_001042492.3(NF1):c.3445A>G (p.Met1149Val) rs1187097568
NM_001042492.3(NF1):c.3610C>G (p.Arg1204Gly) rs199474732
NM_001042492.3(NF1):c.3826C>G (p.Arg1276Gly) rs199474742
NM_001042492.3(NF1):c.4333-2A>G rs1555618634
NM_001042492.3(NF1):c.4369A>G (p.Lys1457Glu) rs878853893
NM_001042492.3(NF1):c.4836-1G>A rs1057518326
NM_001042492.3(NF1):c.5030TCTATA[1] (p.Ile1679_Tyr1680del) rs1135402868
NM_001042492.3(NF1):c.5516del (p.Ile1839fs) rs1597832304
NM_001042492.3(NF1):c.6428-3C>G rs374014162
NM_001042492.3(NF1):c.6704+1del rs1597844692
NM_001042492.3(NF1):c.7153AACTTT[1] (p.2385NF[1]) rs864622639
NM_001042681.2(RERE):c.4293C>A (p.His1431Gln) rs869312871
NM_001042681.2(RERE):c.4305C>G (p.His1435Gln) rs751232315
NM_001048174.2(MUTYH):c.307T>A (p.Trp103Arg) rs730881832
NM_001069.3(TUBB2A):c.533C>T (p.Thr178Met) rs886039447
NM_001069.3(TUBB2A):c.728C>T (p.Pro243Leu) rs1554122947
NM_001079668.3(NKX2-1):c.664G>T (p.Glu222Ter) rs1555349209
NM_001079668.3(NKX2-1):c.872C>T (p.Pro291Leu) rs1057519223
NM_001079802.2(FKTN):c.411C>A (p.Cys137Ter) rs537001725
NM_001079802.2(FKTN):c.642dup (p.Asp215Ter) rs398123557
NM_001080510.5(METTL23):c.169_172del (p.His57fs) rs587777644
NM_001080517.3(SETD5):c.2644C>T (p.Arg882Ter) rs1553635637
NM_001080517.3(SETD5):c.3214C>T (p.Arg1072Ter) rs2045524028
NM_001080517.3(SETD5):c.3520C>T (p.Arg1174Ter) rs1559496157
NM_001083116.3(PRF1):c.844AAG[3] (p.Lys285del) rs745902829
NM_001083962.2(TCF4):c.1732C>T (p.Arg578Cys) rs2144406630
NM_001083962.2(TCF4):c.1738C>T (p.Arg580Trp) rs121909120
NM_001083962.2(TCF4):c.990G>A (p.Ser330=) rs587784469
NM_001099274.3(TINF2):c.847C>T (p.Pro283Ser) rs199422311
NM_001099922.3(ALG13):c.320A>G (p.Asn107Ser) rs398122394
NM_001100.4(ACTA1):c.442G>A (p.Gly148Ser) rs398123563
NM_001101.5(ACTB):c.1043C>T (p.Ser348Leu) rs886041309
NM_001101.5(ACTB):c.589G>A (p.Gly197Ser) rs1554329317
NM_001101.5(ACTB):c.617G>A (p.Arg206Gln) rs886039472
NM_001101.5(ACTB):c.625G>A (p.Val209Met) rs587779777
NM_001101426.4(CRPPA):c.1105GTT[3] (p.Val372del) rs587777798
NM_001110792.2(MECP2):c.1001C>T (p.Pro334Leu) rs61751450
NM_001110792.2(MECP2):c.1191_1236del (p.Leu398fs) rs267608329
NM_001110792.2(MECP2):c.1198_1208del (p.Pro399_Pro400insTer) rs2065919863
NM_001110792.2(MECP2):c.353G>A (p.Arg118Gln) rs61754457
NM_001110792.2(MECP2):c.455C>T (p.Ala152Val) rs28934908
NM_001110792.2(MECP2):c.535C>T (p.Arg179Trp) rs61748420
NM_001110792.2(MECP2):c.961C>T (p.Arg321Trp) rs61751444
NM_001111.5(ADAR):c.3286C>T (p.Arg1096Ter) rs769148365
NM_001111125.3(IQSEC2):c.2278G>A (p.Gly760Ser) rs1556862958
NM_001111125.3(IQSEC2):c.2911C>T (p.Arg971Ter) rs1131691887
NM_001111125.3(IQSEC2):c.2984G>A (p.Arg995Gln) rs886041767
NM_001111125.3(IQSEC2):c.3279G>A (p.Ser1093=) rs1602260263
NM_001111125.3(IQSEC2):c.804del (p.Tyr269fs) rs886041481
NM_001112741.2(KCNC1):c.1294G>A (p.Val432Met) rs1057524670
NM_001114748.2(TMEM240):c.509C>T (p.Pro170Leu) rs606231451
NM_001114753.3(ENG):c.219+5G>C rs1554812252
NM_001114753.3(ENG):c.662T>C (p.Leu221Pro) rs1554810378
NM_001123385.2(BCOR):c.4936dup (p.Leu1646fs) rs748074364
NM_001127178.3(PIGG):c.2624_2625del (p.Gly874_Leu875insTer) rs771819481
NM_001127217.3(SMAD9):c.204C>A (p.Cys68Ter) rs146583835
NM_001127222.2(CACNA1A):c.2039_2040del (p.Gln680fs) rs1064794262
NM_001127222.2(CACNA1A):c.2980G>T (p.Glu994Ter) rs1600271575
NM_001127222.2(CACNA1A):c.3692+1G>A rs1315533129
NM_001127222.2(CACNA1A):c.4072C>T (p.Arg1358Trp) rs1555745461
NM_001127222.2(CACNA1A):c.4174G>A (p.Val1392Met) rs794727411
NM_001127222.2(CACNA1A):c.4897G>A (p.Asp1633Asn) rs1555740805
NM_001127222.2(CACNA1A):c.4979G>A (p.Arg1660His) rs121908216
NM_001127222.2(CACNA1A):c.4988G>A (p.Arg1663Gln) rs121908247
NM_001127222.2(CACNA1A):c.526G>A (p.Val176Met) rs1057521920
NM_001127222.2(CACNA1A):c.5393C>T (p.Ser1798Leu) rs1064794261
NM_001127511.3(APC):c.-191T>C rs879253783
NM_001127644.2(GABRA1):c.640C>T (p.Arg214Cys) rs727503940
NM_001127644.2(GABRA1):c.865A>G (p.Thr289Ala) rs189199636
NM_001127898.4(CLCN5):c.1609C>T (p.Arg537Ter) rs797044811
NM_001130438.3(SPTAN1):c.6899ACCAGCTGG[1] (p.2300DQL[1]) rs587784440
NM_001130438.3(SPTAN1):c.6899ACCAGCTGG[3] (p.2300DQL[3]) rs587784440
NM_001130987.2(DYSF):c.1149+5G>A rs1023002894
NM_001130987.2(DYSF):c.5139del (p.Phe1713fs) rs1057519132
NM_001134232.2(TMEM106B):c.754G>A (p.Asp252Asn) rs1554310600
NM_001134363.3(RBM20):c.1900C>T (p.Arg634Trp) rs796734066
NM_001134363.3(RBM20):c.2737G>A (p.Glu913Lys) rs397516607
NM_001134407.3(GRIN2A):c.1007+1G>A rs397518465
NM_001134407.3(GRIN2A):c.2179G>A (p.Ala727Thr) rs1555488144
NM_001134407.3(GRIN2A):c.3701del (p.Phe1234fs) rs886041308
NM_001134665.3(TRMT10A):c.277C>T (p.Arg93Ter) rs1314619609
NM_001134673.4(NFIA):c.2T>C (p.Met1Thr) rs1553148514
NM_001142800.2(EYS):c.7723+1G>A rs1770412895
NM_001142864.4(PIEZO1):c.5289C>G (p.Tyr1763Ter) rs72811487
NM_001145358.2(SIN3A):c.2844_2847del (p.Lys948fs) rs1555443581
NM_001161.5(NUDT2):c.186del (p.Ala63fs) rs529087882
NM_001163435.3(TBCK):c.1370dup (p.Asn457fs) rs746860249
NM_001163435.3(TBCK):c.304C>T (p.Gln102Ter) rs1330115613
NM_001165963.4(SCN1A):c.1129C>T (p.Arg377Ter) rs794726799
NM_001165963.4(SCN1A):c.1264G>A (p.Val422Met) rs886042528
NM_001165963.4(SCN1A):c.2589+3A>T rs794726775
NM_001165963.4(SCN1A):c.2791C>T (p.Arg931Cys) rs121918788
NM_001165963.4(SCN1A):c.314C>T (p.Thr105Ile) rs796053089
NM_001165963.4(SCN1A):c.4548del (p.Lys1518fs) rs796053081
NM_001165963.4(SCN1A):c.5468T>C (p.Met1823Thr) rs1559101839
NM_001165963.4(SCN1A):c.580G>A (p.Asp194Asn) rs121917935
NM_001170535.3(ATAD3A):c.1582C>T (p.Arg528Trp) rs1057517686
NM_001170629.2(CHD8):c.1690C>T (p.Arg564Ter) rs1057524677
NM_001170629.2(CHD8):c.2726C>G (p.Ser909Ter) rs774906516
NM_001170629.2(CHD8):c.3562C>T (p.Arg1188Ter) rs1555314911
NM_001170629.2(CHD8):c.4204C>T (p.Arg1402Ter) rs1334692966
NM_001170629.2(CHD8):c.727C>T (p.Arg243Ter) rs1555318552
NM_001172509.2(SATB2):c.1165C>T (p.Arg389Cys)
NM_001172509.2(SATB2):c.1196G>A (p.Arg399His) rs1057518190
NM_001172509.2(SATB2):c.1573G>A (p.Glu525Lys)
NM_001172509.2(SATB2):c.1946C>T (p.Ser649Leu) rs746319722
NM_001190737.2(NFIB):c.115C>T (p.Arg39Cys) rs1588253471
NM_001194998.2(CEP152):c.3212del (p.Leu1071fs) rs1555418825
NM_001195263.2(PDZD7):c.2107del (p.Ser703fs) rs397516633
NM_001197104.2(KMT2A):c.3301C>T (p.Arg1101Ter) rs886041856
NM_001197104.2(KMT2A):c.3460C>T (p.Arg1154Trp) rs1555038090
NM_001197104.2(KMT2A):c.478C>T (p.Arg160Ter) rs1555034779
NM_001197104.2(KMT2A):c.6571C>T (p.Arg2191Ter) rs200497972
NM_001197104.2(KMT2A):c.7567_7570del (p.Val2523fs) rs797044565
NM_001205293.3(CACNA1E):c.2104G>A (p.Ala702Thr) rs12131800
NM_001206744.2(TPO):c.1184_1187dup (p.Ala397fs) rs763941231
NM_001206744.2(TPO):c.1768+1G>A
NM_001242896.3(DEPDC5):c.1474C>T (p.Arg492Ter) rs1057519107
NM_001242896.3(DEPDC5):c.2446C>T (p.Gln816Ter) rs2148968418
NM_001244008.2(KIF1A):c.31C>T (p.Arg11Trp) rs548204329
NM_001244008.2(KIF1A):c.37C>T (p.Arg13Cys) rs1064794935
NM_001244008.2(KIF1A):c.38G>A (p.Arg13His) rs797045050
NM_001244008.2(KIF1A):c.646C>T (p.Arg216Cys) rs797045164
NM_001244008.2(KIF1A):c.647G>A (p.Arg216His) rs672601368
NM_001244008.2(KIF1A):c.760C>T (p.Arg254Trp) rs879253888
NM_001244008.2(KIF1A):c.761G>A (p.Arg254Gln) rs886041692
NM_001244008.2(KIF1A):c.773C>T (p.Thr258Met) rs1553638086
NM_001244008.2(KIF1A):c.821C>T (p.Ser274Leu) rs797045655
NM_001244008.2(KIF1A):c.914C>T (p.Pro305Leu) rs1131690804
NM_001253852.3(AP4B1):c.1160_1161del (p.Thr387fs) rs587779388
NM_001253852.3(AP4B1):c.664del (p.Leu222fs) rs1571563769
NM_001256789.3(CACNA1F):c.946TTC[2] (p.Phe318del) rs1557110499
NM_001267550.2(TTN):c.100825C>T (p.Arg33609Ter) rs1057518195
NM_001267550.2(TTN):c.101098delinsCT (p.Asp33700fs) rs794729367
NM_001267550.2(TTN):c.103360del (p.Glu34454fs) rs760768093
NM_001267550.2(TTN):c.106375-2A>G rs1553482872
NM_001267550.2(TTN):c.107377+1G>C rs112188483
NM_001267550.2(TTN):c.45316_45320dup (p.Arg15108fs) rs794729390
NM_001267550.2(TTN):c.47479C>T (p.Gln15827Ter) rs794729261
NM_001267550.2(TTN):c.49346-1G>A rs869312070
NM_001267550.2(TTN):c.50083C>T (p.Arg16695Ter) rs751502842
NM_001267550.2(TTN):c.50296C>T (p.Arg16766Ter) rs754866489
NM_001267550.2(TTN):c.51127A>T (p.Lys17043Ter) rs794729269
NM_001267550.2(TTN):c.51667C>T (p.Arg17223Ter) rs748956593
NM_001267550.2(TTN):c.52307_52310dup (p.Glu17437delinsAspTer) rs794729323
NM_001267550.2(TTN):c.53355G>A (p.Trp17785Ter) rs794729273
NM_001267550.2(TTN):c.53393del (p.Gly17798fs) rs794729324
NM_001267550.2(TTN):c.53599G>T (p.Glu17867Ter) rs1131691381
NM_001267550.2(TTN):c.53653G>T (p.Glu17885Ter) rs727503607
NM_001267550.2(TTN):c.58870C>T (p.Arg19624Ter) rs1553649171
NM_001267550.2(TTN):c.59205del (p.Glu19735fs) rs397517643
NM_001267550.2(TTN):c.59351_59352del (p.Pro19784fs) rs886039027
NM_001267550.2(TTN):c.59353G>T (p.Glu19785Ter) rs794729276
NM_001267550.2(TTN):c.59926+1G>A rs553526525
NM_001267550.2(TTN):c.59977G>T (p.Glu19993Ter) rs1085307825
NM_001267550.2(TTN):c.62217T>A (p.Tyr20739Ter) rs727503586
NM_001267550.2(TTN):c.62506C>T (p.Arg20836Ter) rs757231565
NM_001267550.2(TTN):c.63601C>T (p.Arg21201Ter) rs764243269
NM_001267550.2(TTN):c.63625C>T (p.Arg21209Ter) rs794729279
NM_001267550.2(TTN):c.64249_64253dup (p.Tyr21418Ter) rs794729329
NM_001267550.2(TTN):c.64287del (p.Gly21430fs) rs2049038862
NM_001267550.2(TTN):c.64453C>T (p.Arg21485Ter) rs768345594
NM_001267550.2(TTN):c.64680dup (p.Gly21561fs) rs794729330
NM_001267550.2(TTN):c.64688dup (p.Gln21564fs) rs774395395
NM_001267550.2(TTN):c.64999C>T (p.Arg21667Ter) rs794729280
NM_001267550.2(TTN):c.68308del (p.Thr22770fs) rs1064796112
NM_001267550.2(TTN):c.70000del (p.Glu23334fs) rs1131691811
NM_001267550.2(TTN):c.70162C>T (p.Arg23388Ter) rs781540455
NM_001267550.2(TTN):c.71602C>T (p.Arg23868Ter) rs397517689
NM_001267550.2(TTN):c.72826dup (p.Thr24276fs) rs971618751
NM_001267550.2(TTN):c.74338C>T (p.Arg24780Ter) rs794729285
NM_001267550.2(TTN):c.74608del (p.Ala24870fs) rs878854332
NM_001267550.2(TTN):c.75250C>T (p.Arg25084Ter) rs794729286
NM_001267550.2(TTN):c.75328C>T (p.Arg25110Ter) rs794729382
NM_001267550.2(TTN):c.75663del (p.Lys25221fs) rs1131691542
NM_001267550.2(TTN):c.76397_76398del (p.Ile25466fs) rs794729342
NM_001267550.2(TTN):c.77437C>T (p.Gln25813Ter) rs794729287
NM_001267550.2(TTN):c.77646_77662delinsAGA (p.Ile25883fs) rs794729345
NM_001267550.2(TTN):c.78404G>A (p.Trp26135Ter) rs1064793668
NM_001267550.2(TTN):c.78749del (p.Leu26250fs) rs1064793285
NM_001267550.2(TTN):c.79603C>T (p.Gln26535Ter) rs1064793911
NM_001267550.2(TTN):c.79684C>T (p.Arg26562Ter) rs869025545
NM_001267550.2(TTN):c.80365_80432del (p.Leu26789fs) rs1575674631
NM_001267550.2(TTN):c.80584del (p.Ser26862fs) rs794729348
NM_001267550.2(TTN):c.81037C>T (p.Arg27013Ter) rs869038795
NM_001267550.2(TTN):c.81202del (p.Tyr27068fs) rs794729394
NM_001267550.2(TTN):c.81243_81261del (p.Thr27082fs) rs749610641
NM_001267550.2(TTN):c.82036C>T (p.Gln27346Ter) rs886042331
NM_001267550.2(TTN):c.82273C>T (p.Gln27425Ter) rs371332011
NM_001267550.2(TTN):c.82657G>T (p.Gly27553Ter) rs869178171
NM_001267550.2(TTN):c.83104C>T (p.Arg27702Ter) rs1559314812
NM_001267550.2(TTN):c.86474T>G (p.Leu28825Ter) rs794729297
NM_001267550.2(TTN):c.88703_88704del (p.His29568fs) rs794729360
NM_001267550.2(TTN):c.89017C>T (p.Arg29673Ter) rs886038916
NM_001267550.2(TTN):c.89288del (p.Gly29763fs) rs1575534208
NM_001267550.2(TTN):c.90760G>T (p.Gly30254Ter) rs1060500495
NM_001267550.2(TTN):c.91875del (p.Pro30626fs) rs757451467
NM_001267550.2(TTN):c.92284_92288dup (p.Ser30763fs) rs756367933
NM_001267550.2(TTN):c.92631dup (p.Lys30878fs) rs886039145
NM_001267550.2(TTN):c.93166C>T (p.Arg31056Ter) rs72648250
NM_001267550.2(TTN):c.93396_93400del (p.Ala31133_Trp31134insTer) rs886044536
NM_001267550.2(TTN):c.94103_94107del (p.Ile31368fs) rs769488730
NM_001267550.2(TTN):c.94180delinsTCTAGCAG (p.Pro31394fs) rs727503547
NM_001267550.2(TTN):c.95008C>T (p.Arg31670Ter) rs1322596650
NM_001267550.2(TTN):c.95126C>G (p.Pro31709Arg) rs869320739
NM_001267550.2(TTN):c.95187G>C (p.Trp31729Cys) rs869320742
NM_001267550.2(TTN):c.95341C>T (p.Arg31781Ter) rs780414947
NM_001267550.2(TTN):c.96669G>A (p.Trp32223Ter) rs2154143423
NM_001267550.2(TTN):c.97492+1G>C rs727505319
NM_001267550.2(TTN):c.98551C>T (p.Arg32851Ter) rs553821887
NM_001267550.2(TTN):c.98989+1G>A rs112240298
NM_001271.4(CHD2):c.1934C>T (p.Thr645Met) rs2053619460
NM_001271.4(CHD2):c.4971G>A (p.Trp1657Ter) rs398122998
NM_001273.5(CHD4):c.3518G>A (p.Arg1173Gln) rs886039918
NM_001273.5(CHD4):c.3530G>A (p.Arg1177His) rs2136209181
NM_001276345.2(TNNT2):c.310C>T (p.Arg104Cys) rs727503513
NM_001276345.2(TNNT2):c.311G>T (p.Arg104Leu) rs397516457
NM_001276345.2(TNNT2):c.421C>T (p.Arg141Trp) rs74315380
NM_001276345.2(TNNT2):c.422G>A (p.Arg141Gln) rs397516464
NM_001276345.2(TNNT2):c.446G>A (p.Arg149His) rs397516466
NM_001276345.2(TNNT2):c.508GAG[3] (p.Glu173del) rs397516470
NM_001276345.2(TNNT2):c.547C>T (p.Arg183Trp) rs727503512
NM_001276345.2(TNNT2):c.548G>A (p.Arg183Gln) rs397516471
NM_001276345.2(TNNT2):c.644G>A (p.Arg215Gln) rs121964860
NM_001278116.2(L1CAM):c.3671C>T (p.Ser1224Leu) rs2148491960
NM_001278116.2(L1CAM):c.998C>G (p.Pro333Arg) rs1064793162
NM_001278716.2(FBXL4):c.1067del (p.Gly356fs) rs1554219474
NM_001282225.2(ADA2):c.1110C>A (p.Asn370Lys) rs1489114116
NM_001282225.2(ADA2):c.140G>T (p.Gly47Val) rs200930463
NM_001282531.3(ADNP):c.2188C>T (p.Arg730Ter) rs886041116
NM_001282531.3(ADNP):c.2496_2499del (p.Asn832fs) rs587777523
NM_001282534.2(KCNK9):c.391C>T (p.Arg131Cys) rs1814690517
NM_001292034.3(TAB2):c.1039C>T (p.Arg347Ter) rs1057518422
NM_001292063.2(OTOG):c.432del (p.Gln145fs) rs1393191930
NM_001292063.2(OTOG):c.5926dup (p.Gln1976fs) rs34547529
NM_001298.3(CNGA3):c.1641C>A (p.Phe547Leu) rs104893617
NM_001303052.2(MYT1L):c.1706G>A (p.Arg569Gln) rs878853045
NM_001303256.3(MORC2):c.394C>T (p.Arg132Cys) rs1064795559
NM_001320.7(CSNK2B):c.1A>G (p.Met1Val) rs1801755635
NM_001320.7(CSNK2B):c.94G>A (p.Asp32Asn) rs1554169984
NM_001321075.3(DLG4):c.925C>T (p.Arg309Ter) rs1182894684
NM_001323289.2(CDKL5):c.533G>A (p.Arg178Gln) rs267606715
NM_001330260.2(SCN8A):c.2287A>G (p.Ile763Val) rs794727128
NM_001330260.2(SCN8A):c.4423G>A (p.Gly1475Arg) rs796053216
NM_001330260.2(SCN8A):c.4441A>G (p.Met1481Val) rs886041670
NM_001347721.2(DYRK1A):c.638-9_638-5del
NM_001348323.3(TRIP12):c.4903C>T (p.Arg1635Ter) rs1574994308
NM_001349338.3(FOXP1):c.1240_1241del (p.Leu414fs) rs1064793130
NM_001349338.3(FOXP1):c.1540C>T (p.Arg514Cys) rs869025203
NM_001349338.3(FOXP1):c.1574G>A (p.Arg525Gln) rs1553663084
NM_001349338.3(FOXP1):c.1652+5G>A rs794727216
NM_001351132.2(PEX5):c.1578T>G (p.Asn526Lys) rs61752138
NM_001352027.3(PHF21A):c.1741C>T (p.Arg581Ter)
NM_001353345.2(SETD1B):c.5375G>A (p.Arg1792Gln) rs2137588997
NM_001353921.2(ARHGEF9):c.331C>T (p.Arg111Trp)
NM_001353921.2(ARHGEF9):c.332G>A (p.Arg111Gln) rs1556401714
NM_001356.5(DDX3X):c.121C>T (p.Pro41Ser) rs1064793796
NM_001356.5(DDX3X):c.1423C>T (p.Arg475Cys) rs1064794574
NM_001356.5(DDX3X):c.1462C>T (p.Arg488Cys) rs796052234
NM_001356.5(DDX3X):c.1463G>A (p.Arg488His) rs796052235
NM_001356.5(DDX3X):c.1675CTT[1] (p.Leu560del) rs1555954380
NM_001356.5(DDX3X):c.1807C>T (p.Arg603Ter) rs886041705
NM_001356.5(DDX3X):c.454dup (p.Ser152fs)
NM_001356.5(DDX3X):c.744C>T (p.Gly248=) rs1569238002
NM_001360.3(DHCR7):c.385_412+5del rs746482788
NM_001363711.2(DUOX2):c.2895_2898del (p.Phe966fs) rs530719719
NM_001363711.2(DUOX2):c.602dup (p.Gln202fs) rs567500345
NM_001365902.3(NFIX):c.373A>G (p.Lys125Glu) rs2145192745
NM_001365902.3(NFIX):c.520G>T (p.Glu174Ter) rs786205515
NM_001367916.1(MAGT1):c.992+1G>A rs1557213306
NM_001368067.1(LDB3):c.439G>A (p.Ala147Thr) rs121908333
NM_001368894.2(PAX6):c.1310A>T (p.Ter437Leu) rs121907922
NM_001368894.2(PAX6):c.664C>T (p.Arg222Trp) rs757259413
NM_001370100.5(ZMYND11):c.1798C>T (p.Arg600Trp) rs797044854
NM_001370259.2(MEN1):c.1579C>T (p.Arg527Ter) rs104894261
NM_001370298.3(FGD4):c.2298_2302dup (p.Gly768fs) rs751035912
NM_001370658.1(BTD):c.622G>T (p.Asp208Tyr) rs397514380
NM_001371928.1(AHDC1):c.1122dup (p.Gly375fs) rs749294057
NM_001372044.2(SHANK3):c.4874_4878dup (p.Pro1627fs) rs1603447373
NM_001372044.2(SHANK3):c.496C>T (p.Arg166Ter) rs1569097392
NM_001372066.1(TFAP2A):c.716G>A (p.Arg239Gln) rs151344525
NM_001374258.1(BRAF):c.1523T>C (p.Phe508Ser) rs397507473
NM_001374828.1(ARID1B):c.2581+5G>A rs1554298239
NM_001374828.1(ARID1B):c.4479G>A (p.Pro1493=) rs797045277
NM_001374828.1(ARID1B):c.5636_5639del (p.Glu1879fs) rs1583513256
NM_001374828.1(ARID1B):c.5763_5766del (p.Phe1921fs) rs1554237269
NM_001374828.1(ARID1B):c.5773C>T (p.Arg1925Ter) rs797045282
NM_001374828.1(ARID1B):c.6145C>T (p.Arg2049Ter) rs1554237658
NM_001375380.1(EBF3):c.1210C>T (p.Arg404Ter) rs1564816319
NM_001375380.1(EBF3):c.625C>T (p.Arg209Trp) rs779003155
NM_001375380.1(EBF3):c.626G>A (p.Arg209Gln) rs1131692261
NM_001376.5(DYNC1H1):c.10016G>A (p.Arg3339His) rs2152591288
NM_001376.5(DYNC1H1):c.10030C>T (p.Arg3344Trp) rs2048519381
NM_001376.5(DYNC1H1):c.3278T>C (p.Phe1093Ser) rs1555408829
NM_001376.5(DYNC1H1):c.4868G>A (p.Arg1623Gln) rs1064796765
NM_001376.5(DYNC1H1):c.791G>A (p.Arg264Gln) rs713993043
NM_001377142.1(PLCB4):c.1924G>A (p.Asp642Asn) rs1568763104
NM_001378120.1(MBD5):c.1549C>T (p.Gln517Ter) rs1553518593
NM_001378120.1(MBD5):c.973C>T (p.Arg325Ter) rs1553518509
NM_001378452.1(ITPR1):c.7793T>C (p.Ile2598Thr) rs1553758021
NM_001378452.1(ITPR1):c.805C>T (p.Arg269Trp) rs886039392
NM_001378454.1(ALMS1):c.2726C>G (p.Ser909Ter) rs746640196
NM_001378969.1(KCND3):c.1111G>A (p.Gly371Arg) rs1057521793
NM_001378969.1(KCND3):c.1150G>A (p.Gly384Ser) rs1664632655
NM_001384732.1(CPLANE1):c.8150_8151del (p.Gly2717fs) rs730882217
NM_001384910.1(GUCA1A):c.296A>G (p.Tyr99Cys) rs104893967
NM_001385012.1(NBEA):c.433C>T (p.Arg145Ter) rs1215568155
NM_001399.5(EDA):c.1069C>T (p.Arg357Trp) rs886039347
NM_001399.5(EDA):c.466C>T (p.Arg156Cys) rs132630313
NM_001399.5(EDA):c.648_683del (p.Pro219_Gly230del) rs876657685
NM_001429.3(EP300):c.3857A>G rs1555910821
NM_001429.4(EP300):c.104_107del (p.Ser35fs) rs886037664
NM_001429.4(EP300):c.4783T>G (p.Phe1595Val) rs1057517732
NM_001458.5(FLNC):c.1948C>T (p.Arg650Ter) rs770606675
NM_001458.5(FLNC):c.6190dup (p.Val2064fs) rs1808888920
NM_001605.3(AARS1):c.986G>A (p.Arg329His) rs267606621
NM_001613.4(ACTA2):c.635G>A (p.Arg212Gln) rs397516685
NM_001613.4(ACTA2):c.773G>A (p.Arg258His) rs121434527
NM_001655.5(ARCN1):c.1303C>T (p.Arg435Ter) rs2135556662
NM_001737.5(C9):c.162C>A (p.Cys54Ter) rs34000044
NM_001791.4(CDC42):c.191A>G (p.Tyr64Cys) rs864309721
NM_001791.4(CDC42):c.476C>T (p.Ala159Val) rs1553196134
NM_001791.4(CDC42):c.68A>G (p.Tyr23Cys) rs797044916
NM_001792.5(CDH2):c.2027A>G (p.Tyr676Cys) rs199984052
NM_001844.5(COL2A1):c.1132G>A (p.Gly378Ser) rs2136579628
NM_001844.5(COL2A1):c.1268G>A (p.Gly423Asp) rs1555167449
NM_001844.5(COL2A1):c.1358G>A (p.Gly453Asp) rs794727339
NM_001844.5(COL2A1):c.1546G>A (p.Gly516Ser) rs886041895
NM_001844.5(COL2A1):c.156C>A (p.Cys52Ter) rs1246771678
NM_001844.5(COL2A1):c.1996G>A (p.Gly666Arg) rs2136555177
NM_001844.5(COL2A1):c.2059G>A (p.Gly687Ser) rs1939189846
NM_001844.5(COL2A1):c.2491G>A (p.Gly831Arg) rs1064796660
NM_001844.5(COL2A1):c.2536G>A (p.Gly846Arg) rs886042043
NM_001844.5(COL2A1):c.2887G>A (p.Gly963Ser) rs1215825701
NM_001844.5(COL2A1):c.3589G>A (p.Gly1197Ser) rs121912870
NM_001844.5(COL2A1):c.519del (p.Gly174fs) rs1592235124
NM_001844.5(COL2A1):c.905C>T (p.Ala302Val) rs1555168505
NM_001845.6(COL4A1):c.2086G>A (p.Gly696Ser) rs587780588
NM_001845.6(COL4A1):c.3592G>A (p.Gly1198Arg) rs2139156247
NM_001845.6(COL4A1):c.3760G>A (p.Gly1254Arg) rs1085307614
NM_001848.3(COL6A1):c.1425del (p.Gly476fs) rs878854398
NM_001848.3(COL6A1):c.877G>A (p.Gly293Arg) rs398123643
NM_001849.4(COL6A2):c.1572+1G>A rs1057520717
NM_001849.4(COL6A2):c.803G>A (p.Gly268Asp) rs397515333
NM_001849.4(COL6A2):c.848G>A (p.Gly283Glu) rs886044088
NM_001849.4(COL6A2):c.855+1G>C rs1057517988
NM_001887.4(CRYBB1):c.171del (p.Asn58fs) rs1064793935
NM_001904.4(CTNNB1):c.1603C>T (p.Arg535Ter) rs886039332
NM_001904.4(CTNNB1):c.1981C>T (p.Arg661Ter) rs748294403
NM_001927.4(DES):c.1360C>T (p.Arg454Trp) rs267607490
NM_001943.5(DSG2):c.2349C>A (p.Tyr783Ter) rs1064793983
NM_001943.5(DSG2):c.523+1G>A rs553299589
NM_001953.5(TYMP):c.516+2T>A rs797044454
NM_001958.5(EEF1A2):c.271G>A (p.Asp91Asn) rs886041197
NM_001958.5(EEF1A2):c.370G>A (p.Glu124Lys) rs886042041
NM_002016.2(FLG):c.1297_1298del (p.Asp433fs) rs761877421
NM_002016.2(FLG):c.2282_2285del (p.Ser761fs) rs558269137
NM_002016.2(FLG):c.2427G>A (p.Trp809Ter) rs745516434
NM_002016.2(FLG):c.4420C>T (p.Arg1474Ter) rs146686141
NM_002016.2(FLG):c.6950_6957del (p.Ala2316_Ser2317insTer) rs578184315
NM_002016.2(FLG):c.7339C>T (p.Arg2447Ter) rs138726443
NM_002067.5(GNA11):c.1018G>A (p.Val340Met) rs2145329230
NM_002074.5(GNB1):c.227A>G (p.Asp76Gly) rs869312821
NM_002074.5(GNB1):c.233A>G (p.Lys78Arg) rs869312823
NM_002074.5(GNB1):c.239T>C (p.Ile80Thr) rs752746786
NM_002074.5(GNB1):c.346G>A (p.Gly116Ser) rs1231842600
NM_002107.7(H3-3A):c.365C>T (p.Pro122Leu) rs1576203003
NM_002180.3(IGHMBP2):c.2911_2912del (p.Arg971fs) rs724159994
NM_002317.7(LOX):c.1131+1_1131+6del rs1064796814
NM_002317.7(LOX):c.625del (p.Gln209fs) rs756849358
NM_002335.4(LRP5):c.724G>A (p.Ala242Thr) rs121908670
NM_002427.4(MMP13):c.772dup (p.Asp258fs) rs797044754
NM_002437.5(MPV17):c.260AGA[1] (p.Lys88del) rs267607263
NM_002465.4(MYBPC1):c.776T>C (p.Leu259Pro) rs1421405659
NM_002465.4(MYBPC1):c.788T>G (p.Leu263Arg) rs1565943228
NM_002473.6(MYH9):c.2152C>T (p.Arg718Trp) rs1184544985
NM_002473.6(MYH9):c.5521G>A (p.Glu1841Lys) rs80338834
NM_002485.5(NBN):c.995-2A>G rs876659521
NM_002576.5(PAK1):c.1427T>C (p.Ile476Thr) rs1591695781
NM_002609.4(PDGFRB):c.1997A>G (p.Asn666Ser) rs2113894766
NM_002633.3(PGM1):c.1144+3A>T
NM_002693.3(POLG):c.1716G>A (p.Trp572Ter) rs767709505
NM_002693.3(POLG):c.3151G>C (p.Gly1051Arg) rs121918049
NM_002693.3(POLG):c.3286C>G (p.Arg1096Gly) rs201732356
NM_002734.5(PRKAR1A):c.1102C>T (p.Arg368Ter) rs387906692
NM_002755.4(MAP2K1):c.383G>T (p.Gly128Val) rs121908596
NM_002816.5(PSMD12):c.430C>T (p.Arg144Ter) rs2041990527
NM_002834.5(PTPN11):c.1472C>A (p.Pro491His) rs397507540
NM_002834.5(PTPN11):c.1530G>C (p.Gln510His) rs397507550
NM_002834.5(PTPN11):c.178G>A (p.Gly60Ser) rs397507507
NM_002834.5(PTPN11):c.178G>T (p.Gly60Cys) rs397507507
NM_002834.5(PTPN11):c.179G>C (p.Gly60Ala) rs397507509
NM_002834.5(PTPN11):c.214G>A (p.Ala72Thr) rs121918453
NM_002834.5(PTPN11):c.217A>C (p.Thr73Pro) rs397507513
NM_002834.5(PTPN11):c.5C>T (p.Thr2Ile) rs267606990
NM_002834.5(PTPN11):c.846C>G (p.Ile282Met) rs397507530
NM_002878.4(RAD51D):c.748del (p.His250fs) rs587780105
NM_002880.4(RAF1):c.1082G>C (p.Gly361Ala) rs397516813
NM_002880.4(RAF1):c.1472C>T (p.Thr491Ile) rs80338799
NM_002880.4(RAF1):c.524A>G (p.His175Arg) rs397516822
NM_002880.4(RAF1):c.776C>G (p.Ser259Cys) rs397516827
NM_002880.4(RAF1):c.779C>T (p.Thr260Ile) rs869025501
NM_002880.4(RAF1):c.788T>C (p.Val263Ala) rs397516830
NM_003000.3(SDHB):c.541-2A>G rs786201161
NM_003011.4(SET):c.130_133del (p.Arg44fs) rs1554776342
NM_003042.4(SLC6A1):c.1084G>A (p.Gly362Arg) rs1131691302
NM_003042.4(SLC6A1):c.130C>T (p.Arg44Trp) rs1553687863
NM_003042.4(SLC6A1):c.131G>A (p.Arg44Gln) rs794726859
NM_003042.4(SLC6A1):c.1377C>A (p.Ser459Arg) rs1064795099
NM_003042.4(SLC6A1):c.1648G>A (p.Gly550Arg) rs886042046
NM_003042.4(SLC6A1):c.331G>A (p.Gly111Arg) rs1559622516
NM_003042.4(SLC6A1):c.889G>A (p.Gly297Arg) rs876657400
NM_003072.5(SMARCA4):c.2933G>A (p.Arg978Gln) rs1180804356
NM_003073.5(SMARCB1):c.1096C>T (p.Arg366Cys) rs886039520
NM_003079.5(SMARCE1):c.314G>A (p.Arg105Gln) rs2037146907
NM_003126.4(SPTA1):c.4106dup (p.Leu1370fs)
NM_003126.4(SPTA1):c.6154del (p.Ala2052fs)
NM_003136.4(SRP54):c.343ACA[2] (p.Thr117del) rs1555354198
NM_003193.5(TBCE):c.464T>A (p.Ile155Asn) rs780472451
NM_003238.6(TGFB2):c.821dup (p.Asn274fs) rs863223796
NM_003238.6(TGFB2):c.895C>T (p.Arg299Trp) rs863223792
NM_003239.5(TGFB3):c.898C>T (p.Arg300Trp) rs796051885
NM_003242.6(TGFBR2):c.1336G>A (p.Asp446Asn) rs886039551
NM_003242.6(TGFBR2):c.1378C>T (p.Arg460Cys) rs104893811
NM_003242.6(TGFBR2):c.1570G>A (p.Asp524Asn) rs727504421
NM_003289.4(TPM2):c.782A>G (p.Tyr261Cys) rs1824676022
NM_003482.4(KMT2D):c.10744C>T (p.Arg3582Trp) rs1943085639
NM_003482.4(KMT2D):c.15461G>A (p.Arg5154Gln) rs886043497
NM_003491.4(NAA10):c.346C>T (p.Arg116Trp)
NM_003560.4(PLA2G6):c.1186+1G>A rs761815070
NM_003560.4(PLA2G6):c.673C>T (p.His225Tyr) rs587784359
NM_003560.4(PLA2G6):c.729_740del (p.Ala244_Asn247del) rs587784360
NM_003587.5(DHX16):c.2021C>T (p.Thr674Met) rs1582931908
NM_003590.5(CUL3):c.1377+1G>A
NM_003590.5(CUL3):c.493_494del (p.Leu165fs) rs1553523940
NM_003620.4(PPM1D):c.1434C>A (p.Cys478Ter)
NM_003718.5(CDK13):c.2525A>G (p.Asn842Ser) rs878853160
NM_003722.5(TP63):c.1028G>A (p.Arg343Gln) rs121908841
NM_003922.4(HERC1):c.4396C>T (p.Arg1466Ter)
NM_003924.4(PHOX2B):c.741_758dup (p.Ala255_Ala260dup) rs771383153
NM_004004.6(GJB2):c.35G>T (p.Gly12Val) rs1801002
NM_004004.6(GJB2):c.456C>A (p.Tyr152Ter) rs111033420
NM_004004.6(GJB2):c.56G>C (p.Ser19Thr) rs80338941
NM_004004.6(GJB2):c.647_650del (p.Arg216fs) rs587783647
NM_004006.3(DMD):c.10098AGA[1] (p.Glu3367del) rs886042840
NM_004006.3(DMD):c.10588C>T (p.Gln3530Ter) rs2147935982
NM_004006.3(DMD):c.1270del (p.Gln423_Met424insTer) rs1602459861
NM_004006.3(DMD):c.2623-1G>T rs794729005
NM_004064.5(CDKN1B):c.229C>T (p.Gln77Ter)
NM_004183.4(BEST1):c.652C>T (p.Arg218Cys) rs281865238
NM_004187.5(KDM5C):c.2041C>T (p.Arg681Ter) rs370032584
NM_004187.5(KDM5C):c.3392_3393del (p.Glu1131fs)
NM_004247.4(EFTUD2):c.1060C>T (p.Arg354Ter) rs996949678
NM_004281.4(BAG3):c.699C>A (p.Tyr233Ter) rs876661342
NM_004281.4(BAG3):c.77G>A (p.Trp26Ter) rs1554875409
NM_004320.6(ATP2A1):c.2464dup (p.Arg822fs) rs751365374
NM_004333.6(BRAF):c.1391G>A (p.Gly464Glu) rs121913348
NM_004333.6(BRAF):c.1454T>C (p.Leu485Ser) rs397507475
NM_004333.6(BRAF):c.1495A>G (p.Lys499Glu) rs180177037
NM_004333.6(BRAF):c.1497A>C (p.Lys499Asn) rs397507476
NM_004333.6(BRAF):c.1574T>A (p.Leu525Gln) rs869025340
NM_004333.6(BRAF):c.2135C>A (p.Ala712Asp) rs727502904
NM_004333.6(BRAF):c.755G>C (p.Arg252Pro) rs1325951163
NM_004333.6(BRAF):c.785A>G (p.Gln262Arg) rs397516904
NM_004360.5(CDH1):c.1553_1565+39del rs1555516191
NM_004360.5(CDH1):c.1587dup (p.Ala530fs) rs1555516532
NM_004360.5(CDH1):c.715G>A (p.Gly239Arg) rs587780537
NM_004370.6(COL12A1):c.2179C>T (p.Arg727Ter) rs1064796670
NM_004380.3(CREBBP):c.3832G>A (p.Glu1278Lys) rs267606752
NM_004380.3(CREBBP):c.5603G>A (p.Arg1868Gln) rs1567263168
NM_004380.3(CREBBP):c.6241C>T (p.Gln2081Ter) rs886041518
NM_004387.4(NKX2-5):c.443del (p.Ala148fs) rs876661381
NM_004415.4(DSP):c.3337C>T (p.Arg1113Ter) rs746877365
NM_004415.4(DSP):c.6273del (p.Ala2092fs) rs794728146
NM_004415.4(DSP):c.6496C>T (p.Arg2166Ter) rs141026028
NM_004415.4(DSP):c.6954_6955del (p.Gly2319fs) rs1554108929
NM_004415.4(DSP):c.8170C>T (p.Gln2724Ter) rs879254353
NM_004453.4(ETFDH):c.302_303dup (p.Leu102fs) rs796051962
NM_004493.3(HSD17B10):c.439C>T (p.Arg147Cys) rs1064794694
NM_004493.3(HSD17B10):c.634A>G (p.Lys212Glu) rs886041974
NM_004523.4(KIF11):c.76A>G (p.Arg26Gly) rs2135892544
NM_004531.5(MOCS2):c.377+1G>A rs1389817466
NM_004612.4(TGFBR1):c.722C>T (p.Ser241Leu) rs111854391
NM_004625.4(WNT7A):c.610G>A (p.Gly204Ser) rs387907231
NM_004656.4(BAP1):c.458_459del (p.Pro153fs) rs1559590613
NM_004722.4(AP4M1):c.1129del (p.Leu377fs) rs1432802140
NM_004722.4(AP4M1):c.1321C>T (p.Arg441Ter) rs886041126
NM_004722.4(AP4M1):c.218dup (p.Asn73fs) rs1321353475
NM_004722.4(AP4M1):c.330C>G (p.Tyr110Ter) rs752598529
NM_004722.4(AP4M1):c.694dup (p.Glu232fs) rs1584514057
NM_004928.3(CFAP410):c.218G>C (p.Arg73Pro) rs140451304
NM_004958.4(MTOR):c.5663T>G (p.Phe1888Cys) rs869312666
NM_004958.4(MTOR):c.7216G>A (p.Val2406Met) rs1557739557
NM_004959.5(NR5A1):c.937C>T (p.Arg313Cys) rs1057517779
NM_004959.5(NR5A1):c.938G>A (p.Arg313His) rs1554721235
NM_004974.4(KCNA2):c.881G>A (p.Arg294His) rs886041761
NM_004975.4(KCNB1):c.916C>T (p.Arg306Cys) rs1555889130
NM_004975.4(KCNB1):c.934C>T (p.Arg312Cys)
NM_004984.4(KIF5A):c.611G>A (p.Arg204Gln) rs387907287
NM_004985.5(KRAS):c.179G>T (p.Gly60Val) rs727503108
NM_005027.4(PIK3R2):c.1669G>T (p.Asp557Tyr) rs372272045
NM_005097.4(LGI1):c.108del (p.Lys36fs) rs2133975489
NM_005120.3(MED12):c.3646G>A (p.Val1216Met) rs2147805923
NM_005157.6(ABL1):c.1525G>A (p.Glu509Lys) rs1831433011
NM_005208.5(CRYBA1):c.269GAG[1] (p.Gly91del) rs1064797219
NM_005249.5(FOXG1):c.460dup (p.Glu154fs) rs398124204
NM_005343.4(HRAS):c.34G>A (p.Gly12Ser) rs104894229
NM_005343.4(HRAS):c.34G>T (p.Gly12Cys) rs104894229
NM_005343.4(HRAS):c.35G>C (p.Gly12Ala) rs104894230
NM_005359.6(SMAD4):c.1351_1375del (p.Ala451fs) rs587780124
NM_005373.3(MPL):c.317C>T (p.Pro106Leu) rs750046020
NM_005422.4(TECTA):c.5668C>T (p.Arg1890Cys) rs121909063
NM_005477.3(HCN4):c.1444G>A (p.Gly482Arg) rs794727637
NM_005529.7(HSPG2):c.7006+1G>A rs778653296
NM_005554.4(KRT6A):c.1385T>A (p.Ile462Asn) rs57629991
NM_005557.4(KRT16):c.379C>G (p.Arg127Gly) rs59856285
NM_005609.4(PYGM):c.2262del (p.Lys754fs) rs398124210
NM_005614.4(RHEB):c.104A>G (p.Tyr35Cys) rs1057519950
NM_005633.4(SOS1):c.1310T>C (p.Ile437Thr) rs397517150
NM_005633.4(SOS1):c.508A>G (p.Lys170Glu) rs397517172
NM_005654.6(NR2F1):c.1024G>A (p.Glu342Lys) rs2149946003
NM_005654.6(NR2F1):c.320A>G (p.Lys107Arg) rs2149941608
NM_005859.5(PURA):c.363C>G (p.Tyr121Ter) rs587782996
NM_005859.5(PURA):c.45_60dup (p.Leu21fs) rs1581036015
NM_005859.5(PURA):c.691TTC[2] (p.Phe233del) rs786204835
NM_005859.5(PURA):c.692T>G (p.Phe231Cys) rs1554129113
NM_005862.3(STAG1):c.1117C>T (p.Arg373Ter) rs2107814279
NM_005901.6(SMAD2):c.358C>T (p.Arg120Ter)
NM_005902.4(SMAD3):c.860G>A (p.Arg287Gln) rs730880214
NM_005982.4(SIX1):c.386A>G (p.Tyr129Cys) rs104894478
NM_005984.5(SLC25A1):c.517_526del (p.Arg173fs) rs483352911
NM_006005.3(WFS1):c.2486T>C (p.Leu829Pro) rs104893883
NM_006005.3(WFS1):c.2648_2651del (p.Phe883fs) rs797045076
NM_006009.4(TUBA1A):c.1168C>T (p.Arg390Cys) rs1064793286
NM_006009.4(TUBA1A):c.1246G>A (p.Gly416Ser) rs1057521986
NM_006009.4(TUBA1A):c.236G>A (p.Arg79His) rs1942181364
NM_006009.4(TUBA1A):c.518C>T (p.Pro173Leu) rs1565627304
NM_006009.4(TUBA1A):c.521C>T (p.Ala174Val) rs587784489
NM_006009.4(TUBA1A):c.5G>A (p.Arg2His) rs587784491
NM_006009.4(TUBA1A):c.878A>G (p.Asn293Ser) rs1942169629
NM_006009.4(TUBA1A):c.922C>T (p.Arg308Cys)
NM_006017.3(PROM1):c.1354dup (p.Tyr452fs) rs543698823
NM_006035.4(CDC42BPB):c.2599C>T (p.Arg867Cys) rs1595472764
NM_006070.6(TFG):c.854C>T (p.Pro285Leu) rs207482230
NM_006086.4(TUBB3):c.136C>T (p.Arg46Trp) rs1555625363
NM_006086.4(TUBB3):c.292G>A (p.Gly98Ser) rs587784505
NM_006086.4(TUBB3):c.785G>A (p.Arg262His) rs864321716
NM_006087.4(TUBB4A):c.1163T>C (p.Met388Thr) rs886041020
NM_006087.4(TUBB4A):c.1228G>A (p.Glu410Lys) rs587777428
NM_006087.4(TUBB4A):c.286G>A (p.Gly96Arg) rs1131691696
NM_006087.4(TUBB4A):c.745G>A (p.Asp249Asn) rs483352809
NM_006121.4(KRT1):c.698C>T (p.Ser233Leu) rs60297570
NM_006147.4(IRF6):c.454C>T (p.Gln152Ter) rs1057520738
NM_006218.4(PIK3CA):c.1048G>A (p.Asp350Asn) rs1064793349
NM_006218.4(PIK3CA):c.1624G>A (p.Glu542Lys) rs121913273
NM_006218.4(PIK3CA):c.1633G>A (p.Glu545Lys) rs104886003
NM_006218.4(PIK3CA):c.2740G>A (p.Gly914Arg) rs587776932
NM_006218.4(PIK3CA):c.277C>T (p.Arg93Trp) rs1724342112
NM_006218.4(PIK3CA):c.3012G>A (p.Met1004Ile) rs2108429272
NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg) rs121913279
NM_006218.4(PIK3CA):c.3143A>G (p.His1048Arg) rs1553826184
NM_006231.4(POLE):c.3264_3275+13del rs761516512
NM_006245.4(PPP2R5D):c.589G>A (p.Glu197Lys) rs863225081
NM_006245.4(PPP2R5D):c.592G>A (p.Glu198Lys)
NM_006245.4(PPP2R5D):c.619T>C (p.Trp207Arg) rs869320691
NM_006306.4(SMC1A):c.2420G>A (p.Arg807His) rs1569356550
NM_006348.5(COG5):c.96del (p.Cys33Valfs) rs1554464495
NM_006390.4(IPO8):c.1069dup (p.Ser357fs)
NM_006397.3(RNASEH2A):c.206dup (p.Thr70fs) rs549586181
NM_006397.3(RNASEH2A):c.557G>A (p.Arg186Gln) rs753679297
NM_006420.3(ARFGEF2):c.656dup (p.Val220fs) rs730882200
NM_006445.4(PRPF8):c.5804G>A (p.Arg1935His) rs1555550617
NM_006494.4(ERF):c.1201_1202del (p.Lys401fs) rs1064794325
NM_006516.4(SLC2A1):c.1372C>T (p.Arg458Trp) rs13306758
NM_006516.4(SLC2A1):c.274C>T (p.Arg92Trp) rs202060209
NM_006516.4(SLC2A1):c.2T>C (p.Met1Thr) rs1553157935
NM_006516.4(SLC2A1):c.377G>A (p.Arg126His) rs80359816
NM_006516.4(SLC2A1):c.694C>T (p.Arg232Cys) rs387907313
NM_006516.4(SLC2A1):c.940G>A (p.Gly314Ser) rs121909739
NM_006565.4(CTCF):c.1016G>A (p.Arg339Gln) rs1567610917
NM_006565.4(CTCF):c.1024C>T (p.Arg342Cys) rs1131691283
NM_006593.4(TBR1):c.1118A>G (p.Gln373Arg) rs1553510492
NM_006593.4(TBR1):c.1588_1594dup (p.Thr532fs) rs869312704
NM_006623.4(PHGDH):c.290+2T>C rs886041874
NM_006623.4(PHGDH):c.488G>A (p.Arg163Gln) rs587777483
NM_006662.3(SRCAP):c.7303C>T (p.Arg2435Ter) rs199469465
NM_006766.5(KAT6A):c.3353-1G>A rs1351334408
NM_006767.4(LZTR1):c.1149+1G>A rs767191322
NM_006767.4(LZTR1):c.352dup (p.Arg118fs) rs1486960809
NM_006767.4(LZTR1):c.652-2A>C
NM_006767.4(LZTR1):c.993+1G>T rs770368435
NM_006772.3(SYNGAP1):c.1167_1168del (p.Gly391fs) rs1060503378
NM_006772.3(SYNGAP1):c.1685C>T (p.Pro562Leu) rs397514670
NM_006772.3(SYNGAP1):c.1717C>T (p.Arg573Trp) rs1064795331
NM_006852.6(TLK2):c.1015C>T (p.Arg339Trp) rs1567948262
NM_006852.6(TLK2):c.2092C>T (p.Arg698Ter) rs1555669421
NM_006908.5(RAC1):c.116A>G (p.Asn39Ser)
NM_006912.6(RIT1):c.230C>G (p.Ala77Gly) rs1673399238
NM_006912.6(RIT1):c.244T>C (p.Phe82Leu) rs869025194
NM_006912.6(RIT1):c.270G>C (p.Met90Ile) rs483352822
NM_006940.6(SOX5):c.1673G>A (p.Arg558His)
NM_006946.4(SPTBN2):c.1310G>A (p.Arg437Gln) rs1554986337
NM_006950.3(SYN1):c.528-2A>T rs1556860663
NM_007055.4(POLR3A):c.1771-7C>G rs201314157
NM_007059.4(KPTN):c.714_731dup (p.Met241_Gln246dup) rs587777148
NM_007103.4(NDUFV1):c.736G>A (p.Glu246Lys)
NM_007118.4(TRIO):c.3232C>T (p.Arg1078Trp)
NM_007118.4(TRIO):c.4282C>T (p.Arg1428Ter) rs1747351128
NM_007118.4(TRIO):c.4394A>G (p.Asn1465Ser) rs1747669042
NM_007118.4(TRIO):c.6092dup (p.Leu2031fs) rs752676391
NM_007144.3(PCGF2):c.194C>T (p.Pro65Leu)
NM_007194.4(CHEK2):c.1263del (p.Ser422fs) rs587780174
NM_007194.4(CHEK2):c.247del (p.Gln83fs) rs587782766
NM_007194.4(CHEK2):c.372del (p.Phe125fs) rs876661050
NM_007194.4(CHEK2):c.444+1del rs1064793780
NM_007194.4(CHEK2):c.616_617del (p.Val206fs) rs1346554630
NM_007194.4(CHEK2):c.655del (p.Glu219fs) rs786202497
NM_007254.4(PNKP):c.1295_1298+6del rs587784366
NM_007272.3(CTRC):c.649G>C (p.Gly217Arg) rs202058123
NM_007289.4(MME):c.467del (p.Pro156fs) rs749320057
NM_007294.4(BRCA1):c.1009_1010del (p.Glu337fs) rs1555592671
NM_007294.4(BRCA1):c.122A>G (p.His41Arg) rs80357276
NM_007294.4(BRCA1):c.1714G>T (p.Glu572Ter) rs730881473
NM_007294.4(BRCA1):c.1881_1884del (p.Ser628fs) rs80357567
NM_007294.4(BRCA1):c.2199del (p.Lys734fs) rs80357944
NM_007294.4(BRCA1):c.2214del (p.Val740fs) rs80357574
NM_007294.4(BRCA1):c.2709_2710del (p.Cys903_Glu904delinsTer) rs886040065
NM_007294.4(BRCA1):c.3066del (p.Thr1022_Val1023insTer) rs786202906
NM_007294.4(BRCA1):c.3612del (p.Ala1206fs) rs80357980
NM_007294.4(BRCA1):c.411dup (p.Leu138fs) rs886040205
NM_007294.4(BRCA1):c.442C>T (p.Gln148Ter) rs876659614
NM_007294.4(BRCA1):c.4675+1G>A rs80358044
NM_007294.4(BRCA1):c.5089T>C (p.Cys1697Arg) rs80356993
NM_007294.4(BRCA1):c.5117G>A (p.Gly1706Glu) rs80356860
NM_007294.4(BRCA1):c.5144G>A (p.Ser1715Asn) rs45444999
NM_007294.4(BRCA1):c.5193+1del rs397509236
NM_007294.4(BRCA1):c.5207T>C (p.Val1736Ala) rs45553935
NM_007317.3(KIF22):c.446G>T (p.Arg149Leu) rs193922922
NM_007325.5(GRIA3):c.1888G>A (p.Gly630Arg) rs587777361
NM_007325.5(GRIA3):c.1957G>A (p.Ala653Thr) rs1057521721
NM_007327.4(GRIN1):c.2530C>T (p.Arg844Cys) rs1554770667
NM_012062.5(DNM1L):c.1207C>T (p.Arg403Cys) rs863223953
NM_012062.5(DNM1L):c.436G>A (p.Asp146Asn) rs1057523861
NM_012123.4(MTO1):c.402_403del (p.Tyr134_Lys135delinsTer) rs769532203
NM_012154.5(AGO2):c.2140C>T (p.Arg714Trp) rs866981753
NM_012193.4(FZD4):c.611G>A (p.Cys204Tyr) rs1064794064
NM_012199.5(AGO1):c.1073A>G (p.Gln358Arg)
NM_012199.5(AGO1):c.1123GAG[1] (p.Glu376del) rs2148715376
NM_012199.5(AGO1):c.536TCT[1] (p.Phe180del) rs1553154062
NM_012233.3(RAB3GAP1):c.630_631insC (p.Ile211fs) rs1064794536
NM_012250.6(RRAS2):c.67G>T (p.Gly23Cys) rs2134048726
NM_012330.4(KAT6B):c.3004C>T (p.Arg1002Ter) rs2134159699
NM_012330.4(KAT6B):c.4911_4921del (p.Val1638fs) rs199470480
NM_013275.6(ANKRD11):c.1381_1384del (p.Glu461fs) rs1597464953
NM_013275.6(ANKRD11):c.2175_2178del (p.Asn725fs) rs886039734
NM_013275.6(ANKRD11):c.3309dup (p.Asp1104fs) rs772267579
NM_013275.6(ANKRD11):c.3369_3372del (p.Ser1123fs)
NM_013275.6(ANKRD11):c.3770_3771del (p.Lys1257fs) rs886039477
NM_013275.6(ANKRD11):c.6982dup (p.Arg2328fs) rs1555525088
NM_013275.6(ANKRD11):c.7535G>A (p.Arg2512Gln) rs2033535934
NM_013275.6(ANKRD11):c.7814T>G (p.Leu2605Arg) rs1131691512
NM_013296.5(GPSM2):c.742del (p.Gly249fs) rs528069912
NM_014159.7(SETD2):c.5218C>T (p.Arg1740Trp) rs1057523157
NM_014225.6(PPP2R1A):c.656C>T (p.Ser219Leu) rs1555791268
NM_014231.5(VAMP1):c.340del (p.Ile114fs) rs746220436
NM_014233.4(UBTF):c.628G>A (p.Glu210Lys) rs1555582065
NM_014334.4(FRRS1L):c.566del (p.Pro189fs) rs1831184766
NM_014363.6(SACS):c.2182C>T (p.Arg728Ter) rs752059006
NM_014633.5(CTR9):c.1126G>A (p.Glu376Lys) rs869312709
NM_014874.4(MFN2):c.1091G>A (p.Arg364Gln) rs879254011
NM_014874.4(MFN2):c.2219G>C (p.Trp740Ser) rs28940292
NM_014874.4(MFN2):c.382C>T (p.His128Tyr) rs2100822486
NM_014915.3(ANKRD26):c.-118C>T rs1589393759
NM_014927.5(CNKSR2):c.1282C>T (p.Arg428Ter) rs1064794022
NM_014946.4(SPAST):c.1775T>A (p.Ile592Lys) rs1553321237
NM_015100.4(POGZ):c.3259C>T (p.Arg1087Ter) rs879255404
NM_015107.3(PHF8):c.2210C>G (p.Ser737Ter) rs797044665
NM_015178.3(RHOBTB2):c.1453C>T (p.Arg485Cys) rs1563292586
NM_015335.5(MED13L):c.2597C>T (p.Pro866Leu) rs1555246145
NM_015338.6(ASXL1):c.1934dup (p.Gly646fs) rs750318549
NM_015443.4(KANSL1):c.1774C>T (p.Arg592Trp) rs774841964
NM_015559.3(SETBP1):c.2572G>A (p.Glu858Lys) rs1178702025
NM_015570.4(AUTS2):c.1603_1626del (p.531HQHT[1]) rs1789934246
NM_015599.3(PGM3):c.398_413del (p.Ser133fs) rs1404084330
NM_015631.6(TCTN3):c.276_277del (p.Cys92_Asp93delinsTer) rs553175533
NM_016035.5(COQ4):c.402+1G>C rs747779231
NM_016188.5(ACTL6B):c.1027G>A (p.Gly343Arg) rs1131692228
NM_016213.5(TRIP4):c.180del (p.Gly61fs) rs1446427502
NM_016222.4(DDX41):c.1586_1587del (p.Thr529fs) rs866179648
NM_016222.4(DDX41):c.434+1G>A
NM_016333.4(SRRM2):c.7748_7758del (p.Thr2583fs)
NM_016373.4(WWOX):c.606-1G>A rs730882215
NM_016373.4(WWOX):c.689A>C (p.Gln230Pro)
NM_016604.4(KDM3B):c.4549C>T (p.Arg1517Ter) rs1554131871
NM_016628.5(WAC):c.451C>T (p.Arg151Ter) rs886041614
NM_016955.5(SEPSECS):c.808dup rs776969714
NM_017547.4(FOXRED1):c.612_615dup (p.Ala206fs) rs398124308
NM_017654.4(SAMD9):c.2945G>A (p.Arg982His) rs1554336974
NM_017739.4(POMGNT1):c.1814G>A (p.Arg605His) rs267606962
NM_017780.4(CHD7):c.3302G>A (p.Cys1101Tyr) rs1554598013
NM_017849.4(TMEM127):c.410-2A>G rs121908826
NM_017875.4(SLC25A38):c.324_325del (p.Tyr109fs) rs869320719
NM_017934.7(PHIP):c.328C>T (p.Arg110Cys) rs768324201
NM_017934.7(PHIP):c.919_923del (p.Ile307fs) rs771126523
NM_017946.4(FKBP14):c.362dup (p.Glu122fs) rs542489955
NM_018006.5(TRMU):c.2T>C (p.Met1Thr) rs118203992
NM_018026.4(PACS1):c.607C>T (p.Arg203Trp) rs398123009
NM_018075.5(ANO10):c.132dup (p.Asp45fs) rs540331226
NM_018192.4(P3H2):c.1452+1G>T rs1064796858
NM_018365.4(MNS1):c.724C>T (p.Arg242Ter) rs185005213
NM_018489.3(ASH1L):c.2134dup (p.Arg712fs) rs1558150870
NM_018684.4(ZC4H2):c.199C>T (p.Arg67Ter) rs1131691616
NM_018684.4(ZC4H2):c.225+5G>A rs1057520298
NM_018684.4(ZC4H2):c.592C>T (p.Arg198Trp) rs137962226
NM_018714.3(COG1):c.2665dup (p.Arg889fs) rs747606976
NM_018972.4(GDAP1):c.368A>G (p.His123Arg) rs397515442
NM_019066.5(MAGEL2):c.1912C>T (p.Gln638Ter) rs797044883
NM_019098.5(CNGB3):c.886_896delinsT (p.Thr296fs) rs886063161
NM_019616.4(F7):c.1325del (p.Pro442fs) rs750457207
NM_020247.5(COQ8A):c.1747ACC[1] (p.Thr584del) rs387906299
NM_020338.4(ZMIZ1):c.887C>T (p.Thr296Ile) rs1589579476
NM_020338.4(ZMIZ1):c.899C>T (p.Thr300Met) rs1589579500
NM_020738.4(KIDINS220):c.4417dup (p.Leu1473fs) rs34141362
NM_020751.3(COG6):c.1167-24A>G rs730882236
NM_020778.5(ALPK3):c.3580dup (p.Arg1194fs) rs777315336
NM_020822.3(KCNT1):c.1066C>T (p.Arg356Trp) rs752514808
NM_020822.3(KCNT1):c.1420C>T (p.Arg474Cys) rs866242631
NM_020822.3(KCNT1):c.785G>A (p.Arg262Gln) rs1554771469
NM_020822.3(KCNT1):c.800T>C (p.Met267Thr) rs1564354299
NM_020975.6(RET):c.1825T>C (p.Cys609Arg) rs77558292
NM_020975.6(RET):c.1858T>C (p.Cys620Arg) rs77316810
NM_020975.6(RET):c.1879+1G>A rs1588873476
NM_020975.6(RET):c.1947G>A (p.Ser649=) rs377767412
NM_020975.6(RET):c.2752A>G (p.Met918Val) rs377767442
NM_020975.6(RET):c.2753T>C (p.Met918Thr) rs74799832
NM_020988.3(GNAO1):c.118G>C (p.Gly40Arg) rs886041715
NM_020988.3(GNAO1):c.709G>A (p.Glu237Lys) rs1064794533
NM_021005.4(NR2F2):c.1022C>A (p.Ser341Tyr) rs587777371
NM_021008.4(DEAF1):c.700T>G (p.Trp234Gly) rs1057524157
NM_021222.3(PRUNE1):c.88G>A (p.Asp30Asn) rs1057521927
NM_021625.5(TRPV4):c.947G>A (p.Arg316His) rs387906905
NM_021939.4(FKBP10):c.392-2A>G rs1555616334
NM_022124.6(CDH23):c.1087del (p.Val363fs) rs747955135
NM_022336.4(EDAR):c.1259G>A (p.Arg420Gln) rs121908453
NM_022370.4(ROBO3):c.571dup (p.Arg191fs) rs756837590
NM_022437.3(ABCG8):c.965-1G>C rs957176669
NM_022455.5(NSD1):c.5741G>T (p.Arg1914Leu) rs587784155
NM_022455.5(NSD1):c.5854C>T (p.Arg1952Trp) rs886041219
NM_022552.5(DNMT3A):c.1004A>G (p.Lys335Arg) rs2149307214
NM_022552.5(DNMT3A):c.2645G>A (p.Arg882His) rs147001633
NM_022726.4(ELOVL4):c.698C>T (p.Thr233Met) rs1554162016
NM_023067.4(FOXL2):c.644A>G (p.Tyr215Cys) rs1057516168
NM_023110.3(FGFR1):c.1864C>T (p.Arg622Ter) rs121909628
NM_023110.3(FGFR1):c.2059G>A (p.Gly687Arg) rs727505376
NM_024312.5(GNPTAB):c.1906dup (p.Arg636fs) rs747789493
NM_024312.5(GNPTAB):c.3503_3504del (p.Leu1168fs) rs34002892
NM_024426.6(WT1):c.1400G>A (p.Arg467Gln) rs121907903
NM_024426.6(WT1):c.1447+4C>T rs587776577
NM_024496.4(IRF2BPL):c.2122del (p.Ala708fs) rs1566785444
NM_024496.4(IRF2BPL):c.499C>T (p.Gln167Ter) rs1566786613
NM_024496.4(IRF2BPL):c.514G>T (p.Glu172Ter) rs1448259271
NM_024665.7(TBL1XR1):c.1108G>A (p.Asp370Asn) rs1057517933
NM_024675.4(PALB2):c.2145_2146del (p.Asp715fs) rs515726081
NM_024675.4(PALB2):c.223A>T (p.Lys75Ter) rs1555461875
NM_024675.4(PALB2):c.2693G>A (p.Trp898Ter) rs876658983
NM_024675.4(PALB2):c.3048del (p.Phe1016fs) rs515726104
NM_024675.4(PALB2):c.3362del (p.Gly1121fs) rs515726117
NM_024675.4(PALB2):c.3507_3508del (p.His1170fs) rs587776428
NM_024757.5(EHMT1):c.1468C>T (p.Arg490Ter) rs1588553447
NM_025114.4(CEP290):c.2390del (p.Lys797fs) rs781670422
NM_025137.4(SPG11):c.2877C>A (p.Cys959Ter) rs786204176
NM_025233.7(COASY):c.1403_1404dup (p.Ile469Ter) rs560987504
NM_025243.4(SLC19A3):c.597dup (p.His200fs) rs773140674
NM_030632.3(ASXL3):c.3106C>T (p.Arg1036Ter)
NM_030632.3(ASXL3):c.3349C>T (p.Arg1117Ter) rs868044680
NM_030632.3(ASXL3):c.3464C>A (p.Ser1155Ter) rs377619533
NM_030662.4(MAP2K2):c.181A>G (p.Lys61Glu) rs730880517
NM_030662.4(MAP2K2):c.619G>A (p.Glu207Lys) rs727504382
NM_030912.3(TRIM8):c.1375C>T (p.Gln459Ter) rs866294686
NM_031263.4(HNRNPK):c.253G>A (p.Glu85Lys) rs1554700678
NM_031407.7(HUWE1):c.328C>T (p.Arg110Trp) rs1057520538
NM_031443.4(CCM2):c.30+5_30+6delinsTT rs797044623
NM_032043.3(BRIP1):c.133G>T (p.Glu45Ter) rs587781292
NM_032043.3(BRIP1):c.2244C>G (p.Tyr748Ter) rs1257401983
NM_032043.3(BRIP1):c.2258-1G>A rs1064793887
NM_032043.3(BRIP1):c.2684_2687del (p.Val894_Ser895insTer) rs760551339
NM_032043.3(BRIP1):c.2990_2993del (p.Thr997fs) rs771028677
NM_032043.3(BRIP1):c.2992_2993del (p.Lys998fs) rs878855151
NM_032108.4(SEMA6B):c.1966G>T (p.Glu656Ter) rs747115338
NM_032193.4(RNASEH2C):c.205C>T (p.Arg69Trp) rs78635798
NM_032228.6(FAR1):c.1438C>T (p.Arg480Cys) rs12799308
NM_032436.4(CHAMP1):c.2127T>G (p.Tyr709Ter) rs1555379968
NM_032638.5(GATA2):c.1017+572C>T rs1559985787
NM_033100.4(CDHR1):c.863-1G>A rs886041900
NM_033305.3(VPS13A):c.4956+1G>A rs1085307823
NM_033360.4(KRAS):c.439A>G (p.Lys147Glu) rs387907206
NM_033380.3(COL4A5):c.2414G>A (p.Gly805Glu) rs1556418210
NM_033380.3(COL4A5):c.2660G>T (p.Gly887Val) rs104886201
NM_033380.3(COL4A5):c.3107G>A (p.Gly1036Glu) rs104886212
NM_033380.3(COL4A5):c.3427G>A (p.Gly1143Ser) rs104886228
NM_033380.3(COL4A5):c.584G>T (p.Gly195Val) rs104886061
NM_033380.3(COL4A5):c.874G>A (p.Gly292Arg) rs104886073
NM_033380.3(COL4A5):c.990+1G>T rs1556407701
NM_052867.4(NALCN):c.1733A>G (p.Tyr578Cys) rs786203988
NM_052867.4(NALCN):c.1894C>T (p.Arg632Ter) rs541633673
NM_052867.4(NALCN):c.3542G>A (p.Arg1181Gln) rs786201003
NM_052867.4(NALCN):c.3553G>A (p.Ala1185Thr) rs2139519168
NM_057175.4(NAA15):c.228_232del (p.Asp76Glufs) rs1380822792
NM_057175.5(NAA15):c.1841dup (p.Asn614fs) rs1283385686
NM_057175.5(NAA15):c.1947+1G>A rs2110977610
NM_058216.3(RAD51C):c.630T>G (p.Tyr210Ter) rs786201909
NM_078470.6(COX15):c.272+2T>G
NM_078480.3(PUF60):c.24+1G>A rs1064795388
NM_078480.3(PUF60):c.449_457del (p.Ala150_Phe152del) rs1131692232
NM_078480.3(PUF60):c.541G>A (p.Glu181Lys) rs1085307135
NM_078480.3(PUF60):c.590dup (p.Arg198fs) rs1057518046
NM_078480.3(PUF60):c.619_637del (p.Asn207fs) rs1554643142
NM_080680.3(COL11A2):c.1606C>T (p.Arg536Ter)
NM_080680.3(COL11A2):c.966dup (p.Thr323fs) rs748440351
NM_130466.4(UBE3B):c.1742-2A>G rs1037348200
NM_130837.3(OPA1):c.1034G>A (p.Arg345Gln) rs121908375
NM_130837.3(OPA1):c.2873_2876del rs80356530
NM_130837.3(OPA1):c.2990_2993del (p.Val997fs) rs879255560
NM_130839.5(UBE3A):c.2563_2568del (p.Leu855_Lys856del) rs863225070
NM_130839.5(UBE3A):c.2567_2570del (p.Lys856fs)
NM_133259.4(LRPPRC):c.1920+1G>T rs863224055
NM_133259.4(LRPPRC):c.3963C>A (p.Tyr1321Ter) rs863224052
NM_133433.4(NIPBL):c.6893G>A (p.Arg2298His) rs587784024
NM_133433.4(NIPBL):c.7168G>A (p.Ala2390Thr) rs587784036
NM_138576.4(BCL11B):c.1944_1965del (p.Gly649fs) rs1886427331
NM_138694.4(PKHD1):c.4330C>T (p.Gln1444Ter) rs1581808463
NM_138694.4(PKHD1):c.7264T>G (p.Cys2422Gly) rs201881567
NM_138927.4(SON):c.3852_3856del (p.Met1284fs) rs1114167303
NM_138967.4(SCAMP5):c.538G>T (p.Gly180Trp) rs1184981709
NM_139027.6(ADAMTS13):c.3044+1G>A rs1057520680
NM_144773.4(PROKR2):c.253C>G (p.Arg85Gly) rs141090506
NM_144991.3(TSPEAR):c.1726_1728delinsTT (p.Val576fs) rs1569151872
NM_144997.7(FLCN):c.1432+1G>A rs755959303
NM_144997.7(FLCN):c.1597C>T (p.Gln533Ter) rs398124532
NM_144997.7(FLCN):c.189del (p.Ala64fs) rs876660611
NM_144997.7(FLCN):c.521_527del (p.Thr174fs) rs1085307478
NM_145207.3(AFG2A):c.1883A>G (p.Asp628Gly) rs768528444
NM_145207.3(AFG2A):c.1A>C (p.Met1Leu) rs552219028
NM_145207.3(AFG2A):c.983CAA[2] (p.Thr330del) rs796052243
NM_145239.3(PRRT2):c.649del (p.Arg217fs) rs587778771
NM_145239.3(PRRT2):c.649dup (p.Arg217fs)
NM_147191.1(MMP21):c.240dup (p.Lys81fs) rs886041273
NM_147196.3(TMIE):c.92A>G (p.Glu31Gly) rs1057517839
NM_152296.5(ATP1A3):c.2266C>T (p.Arg756Cys) rs1064797245
NM_152296.5(ATP1A3):c.2267G>A (p.Arg756His) rs606231435
NM_152296.5(ATP1A3):c.2324C>T (p.Pro775Leu) rs886041396
NM_152419.3(HGSNAT):c.1170del (p.Trp390fs) rs748387885
NM_152618.3(BBS12):c.1115_1116del (p.Gly371_Phe372insTer) rs587777803
NM_152743.4(BRAT1):c.638dup (p.Val214fs) rs730880324
NM_153704.6(TMEM67):c.1413-2A>G rs786205608
NM_170606.3(KMT2C):c.8390dup (p.Glu2798fs) rs747256476
NM_170675.5(MEIS2):c.992GAA[2] (p.Arg333del) rs879255264
NM_170707.4(LMNA):c.1142_1157+1del rs1553265755
NM_170707.4(LMNA):c.1146C>T (p.Gly382=) rs57508089
NM_170707.4(LMNA):c.1294C>T (p.Gln432Ter) rs267607618
NM_170707.4(LMNA):c.1357C>T (p.Arg453Trp) rs58932704
NM_170707.4(LMNA):c.1622G>A (p.Arg541His) rs61444459
NM_170707.4(LMNA):c.3G>C (p.Met1Ile) rs794728598
NM_170707.4(LMNA):c.3G>T (p.Met1Ile) rs794728598
NM_170707.4(LMNA):c.481G>A (p.Glu161Lys) rs28933093
NM_170707.4(LMNA):c.497G>C (p.Arg166Pro) rs267607570
NM_170707.4(LMNA):c.736C>T (p.Gln246Ter) rs267607587
NM_170707.4(LMNA):c.73C>G (p.Arg25Gly) rs58327533
NM_170707.4(LMNA):c.746G>A (p.Arg249Gln) rs59332535
NM_170707.4(LMNA):c.778AAG[1] (p.Lys261del) rs58978449
NM_170707.4(LMNA):c.799T>C (p.Tyr267His) rs267607593
NM_172107.4(KCNQ2):c.1004C>T (p.Pro335Leu) rs796052641
NM_172107.4(KCNQ2):c.1229dup (p.Pro411fs) rs886041339
NM_172107.4(KCNQ2):c.1657C>T (p.Arg553Trp) rs759584387
NM_172107.4(KCNQ2):c.1678C>T (p.Arg560Trp) rs773171451
NM_172107.4(KCNQ2):c.1742G>A (p.Arg581Gln) rs118192235
NM_172107.4(KCNQ2):c.2126dup (p.Val710fs) rs1555850842
NM_172107.4(KCNQ2):c.394G>A (p.Val132Met) rs1600789325
NM_172107.4(KCNQ2):c.430C>T (p.Arg144Trp)
NM_172107.4(KCNQ2):c.431G>A (p.Arg144Gln) rs796052618
NM_172107.4(KCNQ2):c.602G>A (p.Arg201His) rs1057516085
NM_172107.4(KCNQ2):c.640C>T (p.Arg214Trp) rs28939684
NM_172107.4(KCNQ2):c.740C>T (p.Ser247Leu) rs74315392
NM_172107.4(KCNQ2):c.753C>G (p.Tyr251Ter) rs2145735982
NM_172107.4(KCNQ2):c.793G>A (p.Ala265Thr) rs794727740
NM_172107.4(KCNQ2):c.833T>C (p.Ile278Thr) rs1057523728
NM_172107.4(KCNQ2):c.927+1G>A rs1555870346
NM_172362.3(KCNH1):c.1070G>A (p.Arg357Gln) rs886041300
NM_173076.3(ABCA12):c.5381+1G>C rs1553523037
NM_173477.5(USH1G):c.1311del (p.Lys438fs) rs886043626
NM_173689.7(CRB2):c.3089_3104dup (p.Gly1036fs) rs879255251
NM_174936.4(PCSK9):c.94G>A (p.Glu32Lys)
NM_175914.5(HNF4A):c.224+2T>C rs1057524790
NM_175914.5(HNF4A):c.335G>A (p.Arg112Gln) rs1085307913
NM_177438.3(DICER1):c.4405_4406del (p.Leu1469fs) rs1064795904
NM_177438.3(DICER1):c.4458dup (p.Ser1487fs) rs1131691197
NM_177559.3(CSNK2A1):c.149A>G (p.Tyr50Cys) rs869312849
NM_177559.3(CSNK2A1):c.593A>G (p.Lys198Arg) rs869312840
NM_178012.5(TUBB2B):c.533C>T (p.Thr178Met) rs1057520391
NM_181332.3(NLGN4X):c.301C>T (p.Arg101Ter) rs756651509
NM_182916.3(TRNT1):c.1252dup (p.Ser418fs) rs876661298
NM_182931.3(KMT2E):c.1776_1780del (p.Lys593fs) rs1562927768
NM_183075.3(CYP2U1):c.947A>T (p.Asp316Val) rs397514513
NM_183357.3(ADCY5):c.2176G>A (p.Ala726Thr) rs796065306
NM_183381.3(RNF13):c.881_882del (p.Asp293_Ser294insTer) rs2108622234
NM_194454.3(KRIT1):c.1524_1528del (p.Arg510fs) rs1057517754
NM_194454.3(KRIT1):c.1A>G (p.Met1Val) rs1554539120
NM_198253.3(TERT):c.2147C>T (p.Ala716Val) rs199422298
NM_198503.5(KCNT2):c.569G>A (p.Arg190His) rs1572547466
NM_198904.4(GABRG2):c.316G>A (p.Ala106Thr) rs796052505
NM_198904.4(GABRG2):c.501C>A (p.Asn167Lys) rs1581351046
NM_201253.3(CRB1):c.498_506del (p.Ile167_Gly169del) rs398124615
NM_201525.4(ADGRG1):c.272G>C (p.Cys91Ser) rs121908465
NM_205861.3(DHDDS):c.110G>A (p.Arg37His) rs1553121073
NM_206933.4(USH2A):c.10450C>T (p.Arg3484Ter) rs111033379
NM_206933.4(USH2A):c.10759C>T (p.Gln3587Ter) rs111033418
NM_206933.4(USH2A):c.4338_4339del (p.Cys1447fs) rs111033367
NM_206965.2(FTCD):c.990dup (p.Pro331fs) rs398124234
Single allele

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