ClinVar Miner

List of variants reported as uncertain significance for not provided by Athena Diagnostics Inc

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6233
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000500.9(CYP21A2):c.*13G>A rs6447 0.01770
UGT1A1*6 rs4148323 0.00891
NM_000500.9(CYP21A2):c.*12C>T rs150697472 0.00853
NM_001243133.2(NLRP3):c.592G>A (p.Val198Met) rs121908147 0.00835
NM_000304.4(PMP22):c.353C>T (p.Thr118Met) rs104894619 0.00378
NM_000069.3(CACNA1S):c.4060A>T (p.Thr1354Ser) rs145910245 0.00349
NM_004393.6(DAG1):c.258G>C (p.Leu86Phe) rs145403829 0.00314
NM_000218.3(KCNQ1):c.-5T>C rs532941548 0.00267
NM_000091.5(COL4A3):c.4421T>C (p.Leu1474Pro) rs200302125 0.00257
NM_033305.3(VPS13A):c.775A>G (p.Asn259Asp) rs41307461 0.00255
NM_015474.4(SAMHD1):c.77C>T (p.Pro26Leu) rs147240777 0.00252
NM_018100.4(EFHC1):c.685T>C (p.Phe229Leu) rs137852776 0.00242
NM_001293298.2(CEMIP):c.3397G>A (p.Glu1133Lys) rs151273972 0.00239
NM_020361.5(CPA6):c.799G>A (p.Gly267Arg) rs61738009 0.00239
NM_213599.3(ANO5):c.155A>G (p.Asn52Ser) rs143777403 0.00238
NM_144773.4(PROKR2):c.518T>G (p.Leu173Arg) rs74315416 0.00220
NM_004646.4(NPHS1):c.128T>C (p.Val43Ala) rs140626538 0.00205
NM_000170.3(GLDC):c.2683A>G (p.Met895Val) rs141152043 0.00200
NM_001365999.1(SZT2):c.4898C>T (p.Ser1633Leu) rs138762270 0.00197
NM_032119.4(ADGRV1):c.3151G>T (p.Asp1051Tyr) rs145556097 0.00195
NM_033629.6(TREX1):c.797A>G (p.Glu266Gly) rs55999987 0.00184
NM_004646.4(NPHS1):c.3562G>A (p.Ala1188Thr) rs116700257 0.00177
NM_032119.4(ADGRV1):c.1522A>C (p.Ile508Leu) rs61744480 0.00177
NM_000540.3(RYR1):c.10616G>A (p.Arg3539His) rs143987857 0.00171
NM_001038603.3(MARVELD2):c.898T>A (p.Leu300Met) rs72773422 0.00170
NM_021098.3(CACNA1H):c.2626G>A (p.Ala876Thr) rs58173258 0.00169
NM_000540.3(RYR1):c.12884C>T (p.Ala4295Val) rs193922855 0.00163
NM_032119.4(ADGRV1):c.3443G>A (p.Gly1148Asp) rs200945405 0.00159
NM_001164508.2(NEB):c.9181A>T (p.Met3061Leu) rs143473183 0.00158
NM_152743.4(BRAT1):c.1828C>T (p.Arg610Trp) rs61753094 0.00152
NM_024301.5(FKRP):c.1177G>A (p.Val393Ile) rs140679502 0.00150
NM_025243.4(SLC19A3):c.621A>G (p.Ile207Met) rs145804755 0.00150
NM_005422.4(TECTA):c.3097C>T (p.Arg1033Trp) rs142486386 0.00149
NM_002241.5(KCNJ10):c.136G>A (p.Asp46Asn) rs141553756 0.00146
NM_001164508.2(NEB):c.3623T>C (p.Ile1208Thr) rs201141958 0.00137
NM_003119.4(SPG7):c.4G>A (p.Ala2Thr) rs535030441 0.00136
NM_001130987.2(DYSF):c.205G>C (p.Val69Leu) rs114986640 0.00134
NM_016341.4(PLCE1):c.1495C>T (p.Arg499Cys) rs61751493 0.00134
NM_000083.3(CLCN1):c.1480T>C (p.Phe494Leu) rs147493705 0.00132
NM_032119.4(ADGRV1):c.11974G>A (p.Asp3992Asn) rs201386977 0.00131
NM_000352.6(ABCC8):c.4563G>T (p.Lys1521Asn) rs142272833 0.00130
NM_000170.3(GLDC):c.1618A>C (p.Lys540Gln) rs140516872 0.00127
NM_001079802.2(FKTN):c.166-4A>G rs193922689 0.00125
NM_006420.3(ARFGEF2):c.3892G>A (p.Gly1298Ser) rs139037316 0.00124
NM_024301.5(FKRP):c.740C>A (p.Pro247Gln) rs528000488 0.00124
NM_000500.9(CYP21A2):c.227G>A (p.Arg76Lys) rs368330593 0.00122
NM_020361.5(CPA6):c.619C>G (p.Gln207Glu) rs35993949 0.00121
NM_032119.4(ADGRV1):c.207+3A>G rs142356935 0.00119
NM_133642.5(LARGE1):c.1420G>A (p.Val474Ile) rs150861748 0.00119
NM_014053.4(FLVCR1):c.1624C>T (p.Pro542Ser) rs141575859 0.00117
NM_020686.6(ABAT):c.1186A>G (p.Ile396Val) rs150914629 0.00116
NM_201384.3(PLEC):c.7753G>C (p.Glu2585Gln) rs200488179 0.00116
NM_001130987.2(DYSF):c.4253C>G (p.Pro1418Arg) rs138268837 0.00115
NM_007254.4(PNKP):c.1029+2T>C rs199919568 0.00115
NM_018136.5(ASPM):c.5947A>T (p.Met1983Leu) rs141715950 0.00115
NM_024649.5(BBS1):c.235G>A (p.Glu79Lys) rs138744839 0.00115
NM_145207.3(AFG2A):c.766A>G (p.Ile256Val) rs143384152 0.00115
NM_001130987.2(DYSF):c.1931T>C (p.Met644Thr) rs141867897 0.00113
NM_001130987.2(DYSF):c.2956A>T (p.Met986Leu) rs144636654 0.00112
NM_001048166.1(STIL):c.2362G>A (p.Val788Ile) rs149697952 0.00111
NM_152564.5(VPS13B):c.1248G>T (p.Gln416His) rs143024324 0.00111
NM_000091.5(COL4A3):c.1483C>T (p.His495Tyr) rs200510532 0.00110
NM_004004.6(GJB2):c.478G>A (p.Gly160Ser) rs34988750 0.00107
NM_001304438.2(TMEM132E):c.2125C>G (p.Leu709Val) rs141863942 0.00105
NM_006493.4(CLN5):c.-146T>C rs201615354 0.00104
NM_000426.4(LAMA2):c.1814C>T (p.Thr605Ile) rs112388307 0.00103
NM_001191061.2(SLC25A22):c.585C>T (p.Leu195=) rs147840220 0.00103
NM_000352.6(ABCC8):c.3203C>T (p.Thr1068Met) rs139524121 0.00102
NM_014141.6(CNTNAP2):c.73G>A (p.Ala25Thr) rs200866893 0.00101
NM_016341.4(PLCE1):c.5782G>A (p.Val1928Ile) rs202171627 0.00101
NM_004999.4(MYO6):c.3530G>A (p.Arg1177His) rs139664153 0.00099
NM_000426.4(LAMA2):c.6161A>G (p.Gln2054Arg) rs56035053 0.00098
NM_201384.3(PLEC):c.1969A>T (p.Ser657Cys) rs199843296 0.00097
NM_194248.3(OTOF):c.3966C>G (p.Asp1322Glu) rs80356576 0.00096
NM_001130987.2(DYSF):c.4021C>G (p.Gln1341Glu) rs147950418 0.00094
NM_001927.4(DES):c.935A>C (p.Asp312Ala) rs148947510 0.00093
NM_018136.5(ASPM):c.7670C>G (p.Ser2557Cys) rs78215018 0.00093
NM_194248.3(OTOF):c.1630C>T (p.Arg544Cys) rs139954767 0.00093
NM_201384.3(PLEC):c.9926G>A (p.Arg3309His) rs201369301 0.00093
NM_002693.3(POLG):c.2207A>G (p.Asn736Ser) rs138457939 0.00092
NM_003560.4(PLA2G6):c.1615G>A (p.Gly539Ser) rs143826762 0.00092
NM_003673.4(TCAP):c.353C>T (p.Ala118Val) rs143233087 0.00092
NM_000083.3(CLCN1):c.2834G>T (p.Gly945Val) rs139659129 0.00091
NM_000026.4(ADSL):c.895A>G (p.Met299Val) rs34396910 0.00090
NM_021008.4(DEAF1):c.1186G>A (p.Gly396Ser) rs138447102 0.00090
NM_213599.3(ANO5):c.2141C>G (p.Thr714Ser) rs200631556 0.00090
NM_000336.3(SCNN1B):c.1888G>A (p.Val630Ile) rs72654357 0.00089
NM_000435.3(NOTCH3):c.3691C>T (p.Arg1231Cys) rs201680145 0.00089
NM_016239.4(MYO15A):c.9181G>A (p.Glu3061Lys) rs116833707 0.00089
NM_032119.4(ADGRV1):c.8572A>G (p.Ile2858Val) rs41308297 0.00088
NM_152743.4(BRAT1):c.1792C>T (p.His598Tyr) rs201523118 0.00088
NM_001130987.2(DYSF):c.2147C>T (p.Ala716Val) rs145007061 0.00087
NM_000426.4(LAMA2):c.922G>A (p.Glu308Lys) rs146462599 0.00086
NM_005529.7(HSPG2):c.8381G>A (p.Arg2794Gln) rs141563188 0.00086
NM_020549.5(CHAT):c.665G>C (p.Arg222Pro) rs8178989 0.00086
NM_024301.5(FKRP):c.1154C>T (p.Ser385Leu) rs104894680 0.00086
NM_024596.5(MCPH1):c.2180C>T (p.Pro727Leu) rs199861426 0.00086
NM_032119.4(ADGRV1):c.3509A>G (p.Tyr1170Cys) rs188772875 0.00086
NM_018075.5(ANO10):c.88G>C (p.Glu30Gln) rs147605535 0.00085
NM_000441.2(SLC26A4):c.1061T>C (p.Phe354Ser) rs111033243 0.00083
NM_001851.6(COL9A1):c.902C>T (p.Pro301Leu) rs192047082 0.00083
NM_001927.4(DES):c.785A>T (p.Glu262Val) rs147327878 0.00083
NM_006623.4(PHGDH):c.682G>T (p.Gly228Trp) rs139063843 0.00083
NM_013382.7(POMT2):c.1045C>T (p.Arg349Trp) rs141339355 0.00083
NM_032119.4(ADGRV1):c.17758C>A (p.Leu5920Ile) rs202110635 0.00083
NM_001267550.2(TTN):c.89426G>A (p.Arg29809Gln) rs72648238 0.00082
NM_001365536.1(SCN9A):c.684C>G (p.Ile228Met) rs71428908 0.00081
NM_004320.6(ATP2A1):c.1370C>T (p.Thr457Met) rs138880727 0.00081
NM_194248.3(OTOF):c.2908C>T (p.Arg970Cys) rs140613217 0.00081
NM_206933.4(USH2A):c.5858C>G (p.Ala1953Gly) rs41302239 0.00081
NM_005529.7(HSPG2):c.2725G>A (p.Gly909Ser) rs137904249 0.00079
NM_152564.5(VPS13B):c.5606C>T (p.Thr1869Met) rs117148013 0.00078
NM_152743.4(BRAT1):c.1507C>T (p.Pro503Ser) rs147745609 0.00078
NM_002335.4(LRP5):c.1413-7T>A rs141889567 0.00077
NM_152564.5(VPS13B):c.9094G>T (p.Asp3032Tyr) rs140095832 0.00077
NM_001293298.2(CEMIP):c.2609G>A (p.Gly870Asp) rs113116775 0.00076
NM_016341.4(PLCE1):c.2786G>C (p.Ser929Thr) rs61732521 0.00076
NM_005529.7(HSPG2):c.4568G>A (p.Arg1523His) rs147633715 0.00075
NM_153026.3(PRICKLE1):c.2071A>G (p.Thr691Ala) rs149496604 0.00075
NM_000441.2(SLC26A4):c.1616T>C (p.Ile539Thr) rs146269871 0.00074
NM_000260.4(MYO7A):c.2886G>C (p.Gln962His) rs200641606 0.00073
NM_014855.3(AP5Z1):c.2131C>G (p.Arg711Gly) rs113184057 0.00073
NM_025243.4(SLC19A3):c.1145G>A (p.Ser382Asn) rs145288025 0.00073
NM_033629.6(TREX1):c.720G>C (p.Arg240Ser) rs72556555 0.00073
NM_138691.3(TMC1):c.924C>G (p.Asp308Glu) rs113342704 0.00073
NM_000352.6(ABCC8):c.1252T>C (p.Cys418Arg) rs67254669 0.00072
NM_001130987.2(DYSF):c.4859G>A (p.Arg1620His) rs185596534 0.00072
NM_014855.3(AP5Z1):c.1528C>T (p.Arg510Trp) rs374146548 0.00072
NM_001164508.2(NEB):c.3184A>G (p.Lys1062Glu) rs192117840 0.00071
NM_001164508.2(NEB):c.3989A>G (p.Tyr1330Cys) rs189553632 0.00071
NM_002693.3(POLG):c.578G>A (p.Arg193Gln) rs3176162 0.00071
NM_018451.5(CENPJ):c.3922G>A (p.Val1308Ile) rs140564566 0.00071
NM_152564.5(VPS13B):c.6416A>G (p.Asn2139Ser) rs142248228 0.00070
NM_152564.5(VPS13B):c.3811A>T (p.Thr1271Ser) rs142674934 0.00069
NM_001101426.4(CRPPA):c.1218T>G (p.Ile406Met) rs202011820 0.00068
NM_001191061.2(SLC25A22):c.140C>T (p.Thr47Met) rs142220309 0.00068
NM_001365536.1(SCN9A):c.1109C>T (p.Thr370Met) rs200391162 0.00068
NM_001365999.1(SZT2):c.6977G>A (p.Arg2326Gln) rs146140125 0.00068
NM_001378030.1(CCDC78):c.23G>A (p.Gly8Asp) rs181469519 0.00068
NM_152564.5(VPS13B):c.1768G>A (p.Ala590Thr) rs140601319 0.00068
NM_152564.5(VPS13B):c.7712C>T (p.Ser2571Phe) rs145208175 0.00068
NM_182961.4(SYNE1):c.15907C>T (p.Arg5303Trp) rs149215868 0.00067
NM_000426.4(LAMA2):c.3532G>A (p.Ala1178Thr) rs34505698 0.00066
NM_001164508.2(NEB):c.8978A>G (p.Lys2993Arg) rs138217855 0.00066
NM_032119.4(ADGRV1):c.15177G>T (p.Gln5059His) rs201416399 0.00066
NM_030962.4(SBF2):c.5014_5016del (p.Lys1672del) rs750958357 0.00065
NM_213599.3(ANO5):c.294G>A (p.Ala98=) rs142858990 0.00065
NM_006922.4(SCN3A):c.44G>A (p.Arg15His) rs139769668 0.00064
NM_000256.3(MYBPC3):c.3682C>T (p.Arg1228Cys) rs201312636 0.00063
NM_001244008.2(KIF1A):c.3494T>C (p.Ile1165Thr) rs35698242 0.00063
NM_001267550.2(TTN):c.84263G>A (p.Ser28088Asn) rs200450022 0.00063
NM_002693.3(POLG):c.1402A>G (p.Asn468Asp) rs145843073 0.00063
NM_001267550.2(TTN):c.92294G>C (p.Arg30765Thr) rs373099440 0.00062
NM_002693.3(POLG):c.3131T>C (p.Val1044Ala) rs150233690 0.00062
NM_153026.3(PRICKLE1):c.2216C>T (p.Ser739Phe) rs138452760 0.00062
NM_181882.3(PRX):c.499C>T (p.Arg167Cys) rs10425452 0.00062
NM_000540.3(RYR1):c.11321C>T (p.Ala3774Val) rs146361173 0.00061
NM_001292063.2(OTOG):c.4641G>T (p.Glu1547Asp) rs764159927 0.00061
NM_003119.4(SPG7):c.2275G>A (p.Ala759Thr) rs140769107 0.00061
NM_032119.4(ADGRV1):c.12181G>T (p.Val4061Phe) rs200816323 0.00061
NM_206933.4(USH2A):c.12823T>A (p.Ser4275Thr) rs138607917 0.00061
NM_012301.4(MAGI2):c.3706+5G>A rs188293910 0.00060
NM_001267550.2(TTN):c.68824G>A (p.Glu22942Lys) rs199506676 0.00059
NM_001927.4(DES):c.934G>A (p.Asp312Asn) rs34337334 0.00059
NM_004646.4(NPHS1):c.1747G>A (p.Glu583Lys) rs147641617 0.00059
NM_030962.4(SBF2):c.1424A>G (p.Gln475Arg) rs199894823 0.00059
NM_030962.4(SBF2):c.3824G>A (p.Arg1275His) rs150028248 0.00059
NM_006950.3(SYN1):c.1615G>A (p.Gly539Ser) rs794727076 0.00058
NM_145207.3(AFG2A):c.1964G>A (p.Arg655Gln) rs147873489 0.00058
NM_000352.6(ABCC8):c.1063G>A (p.Ala355Thr) rs145136257 0.00057
NM_004568.6(SERPINB6):c.121G>A (p.Val41Ile) rs140220538 0.00057
NM_021942.6(TRAPPC11):c.931C>G (p.Leu311Val) rs148833310 0.00057
NM_133642.5(LARGE1):c.211G>A (p.Glu71Lys) rs116164106 0.00057
NM_000023.4(SGCA):c.421C>A (p.Arg141Ser) rs35130237 0.00056
NM_001379180.1(ESRRB):c.*1535G>A rs200237229 0.00056
NM_002693.3(POLG):c.678G>C (p.Gln226His) rs147282197 0.00056
NM_005045.4(RELN):c.3147-4A>G rs375230548 0.00056
NM_018075.5(ANO10):c.566G>A (p.Arg189Gln) rs148873732 0.00056
NM_130837.3(OPA1):c.1311A>G (p.Ile437Met) rs143319805 0.00056
NM_000702.4(ATP1A2):c.1474G>A (p.Glu492Lys) rs142348542 0.00055
NM_000083.3(CLCN1):c.2234A>G (p.Asn745Ser) rs144612641 0.00054
NM_020451.3(SELENON):c.415G>A (p.Ala139Thr) rs201692549 0.00054
NM_030962.4(SBF2):c.3290C>A (p.Thr1097Asn) rs141894081 0.00054
NM_201384.3(PLEC):c.7669C>T (p.Arg2557Trp) rs201569045 0.00054
NM_203290.4(POLR1C):c.421C>T (p.Arg141Cys) rs148385032 0.00054
NM_004287.5(GOSR2):c.*1795G>C rs147434599 0.00053
NM_005529.7(HSPG2):c.11938G>A (p.Val3980Met) rs147860819 0.00053
NM_012210.4(TRIM32):c.*1G>A rs142781513 0.00053
NM_032119.4(ADGRV1):c.16312A>G (p.Thr5438Ala) rs201890097 0.00053
NM_144991.3(TSPEAR):c.668C>T (p.Ser223Leu) rs149481227 0.00053
NM_152564.5(VPS13B):c.983A>G (p.His328Arg) rs181625846 0.00053
NM_182914.3(SYNE2):c.4912T>C (p.Tyr1638His) rs146801942 0.00052
NM_000391.4(TPP1):c.1241A>T (p.Asn414Ile) rs146798796 0.00051
NM_001079802.2(FKTN):c.1159G>A (p.Gly387Arg) rs148975262 0.00051
NM_003673.4(TCAP):c.313G>C (p.Glu105Gln) rs146906267 0.00051
NM_004646.4(NPHS1):c.1619C>A (p.Ala540Glu) rs149598144 0.00051
NM_005529.7(HSPG2):c.9476G>A (p.Arg3159Gln) rs140573963 0.00051
NM_013382.7(POMT2):c.229G>A (p.Asp77Asn) rs200992827 0.00051
NM_033629.6(TREX1):c.679G>A (p.Gly227Ser) rs113107733 0.00051
NM_080680.3(COL11A2):c.517C>T (p.Arg173Trp) rs146522169 0.00051
NM_182961.4(SYNE1):c.9394A>G (p.Ser3132Gly) rs138481762 0.00051
NM_000257.4(MYH7):c.2890G>C (p.Val964Leu) rs45496496 0.00050
NM_001130987.2(DYSF):c.2020A>G (p.Lys674Glu) rs139754493 0.00050
NM_182961.4(SYNE1):c.5360A>G (p.Glu1787Gly) rs201366911 0.00050
NM_000161.3(GCH1):c.*20C>T rs143111433 0.00049
NM_017739.4(POMGNT1):c.421-7C>A rs189274856 0.00049
NM_182961.4(SYNE1):c.16850G>A (p.Arg5617Gln) rs141550859 0.00049
NM_004393.6(DAG1):c.1022C>T (p.Thr341Ile) rs148759919 0.00048
NM_014141.6(CNTNAP2):c.479G>A (p.Arg160His) rs138738227 0.00048
NM_020247.5(COQ8A):c.730G>C (p.Gly244Arg) rs199619932 0.00048
NM_024301.5(FKRP):c.456C>G (p.Ser152Arg) rs199714523 0.00048
NM_005045.4(RELN):c.139G>A (p.Glu47Lys) rs139648092 0.00047
NM_033629.6(TREX1):c.739G>C (p.Ala247Pro) rs112741962 0.00047
NM_000370.3(TTPA):c.178G>A (p.Asp60Asn) rs199636231 0.00046
NM_024596.5(MCPH1):c.783T>A (p.Asp261Glu) rs199700538 0.00046
NM_032119.4(ADGRV1):c.853C>G (p.Arg285Gly) rs200197273 0.00046
NM_005477.3(HCN4):c.2800C>T (p.Arg934Cys) rs199638465 0.00045
NM_006420.3(ARFGEF2):c.172C>T (p.Pro58Ser) rs149471454 0.00045
NM_182961.4(SYNE1):c.24488T>C (p.Ile8163Thr) rs139643725 0.00045
NM_001039.4(SCNN1G):c.776C>A (p.Thr259Asn) rs72646501 0.00044
NM_001130987.2(DYSF):c.6174G>A (p.Arg2058=) rs143762717 0.00044
NM_004004.6(GJB2):c.-22-6T>C rs141962118 0.00044
NM_014855.3(AP5Z1):c.584A>G (p.His195Arg) rs117659667 0.00044
NM_032119.4(ADGRV1):c.4666G>A (p.Glu1556Lys) rs200955930 0.00044
NM_005529.7(HSPG2):c.6808G>A (p.Gly2270Arg) rs145091234 0.00043
NM_018136.5(ASPM):c.2263G>A (p.Ala755Thr) rs150852085 0.00043
NM_018451.5(CENPJ):c.600G>T (p.Gln200His) rs200061825 0.00043
NM_020365.5(EIF2B3):c.464G>A (p.Arg155His) rs147773599 0.00043
NM_024577.4(SH3TC2):c.2812C>T (p.His938Tyr) rs144688852 0.00043
NM_152743.4(BRAT1):c.2029G>A (p.Val677Met) rs141726264 0.00043
NM_182914.3(SYNE2):c.7976G>A (p.Arg2659Gln) rs199561218 0.00043
NM_182961.4(SYNE1):c.21149G>A (p.Arg7050Gln) rs143639400 0.00043
NM_001146262.4(SYT14):c.202A>G (p.Arg68Gly) rs149170280 0.00042
NM_001195248.2(APTX):c.18G>T (p.Trp6Cys) rs144076460 0.00042
NM_015346.4(ZFYVE26):c.6448C>T (p.Pro2150Ser) rs138423670 0.00042
NM_201384.3(PLEC):c.13111G>A (p.Ala4371Thr) rs200361523 0.00042
NM_002241.5(KCNJ10):c.52C>T (p.Arg18Trp) rs138457635 0.00041
NM_003611.3(OFD1):c.919G>A (p.Val307Ile) rs139444990 0.00041
NM_006420.3(ARFGEF2):c.5063C>T (p.Thr1688Ile) rs145439001 0.00041
NM_020117.11(LARS1):c.1292T>A (p.Val431Asp) rs150429680 0.00041
NM_032119.4(ADGRV1):c.14632C>T (p.Pro4878Ser) rs201072069 0.00041
NM_182961.4(SYNE1):c.22913G>A (p.Gly7638Asp) rs142117628 0.00041
NM_182961.4(SYNE1):c.25751A>C (p.Asp8584Ala) rs41291047 0.00041
NM_213599.3(ANO5):c.1563G>T (p.Leu521Phe) rs190937193 0.00041
NM_000370.3(TTPA):c.452G>A (p.Arg151Gln) rs150710403 0.00040
NM_001009944.3(PKD1):c.11675G>A (p.Arg3892His) rs748887038 0.00040
NM_001267550.2(TTN):c.34294C>T (p.Pro11432Ser) rs534339525 0.00040
NM_005592.4(MUSK):c.2203G>A (p.Glu735Lys) rs138418494 0.00040
NM_014363.6(SACS):c.2602A>G (p.Ile868Val) rs142284018 0.00040
NM_182961.4(SYNE1):c.14501G>A (p.Arg4834Gln) rs141883764 0.00040
NM_001031679.3(MSRB3):c.523G>A (p.Ala175Thr) rs200201418 0.00039
NM_001365999.1(SZT2):c.6077C>A (p.Ala2026Glu) rs140427193 0.00039
NM_001384140.1(PCDH15):c.2290C>T (p.Arg764Cys) rs192813057 0.00039
NM_004999.4(MYO6):c.2836C>T (p.Arg946Cys) rs141845119 0.00039
NM_005529.7(HSPG2):c.9235G>A (p.Val3079Met) rs187525491 0.00039
NM_017946.4(FKBP14):c.568_570del (p.Lys190del) rs762279651 0.00039
NM_032119.4(ADGRV1):c.16331C>A (p.Thr5444Lys) rs370906851 0.00039
NM_005529.7(HSPG2):c.7444C>G (p.Gln2482Glu) rs140049357 0.00038
NM_014845.6(FIG4):c.2459+5G>A rs367944508 0.00038
NM_014855.3(AP5Z1):c.313C>T (p.His105Tyr) rs200490093 0.00038
NM_182914.3(SYNE2):c.6511C>G (p.Leu2171Val) rs199743242 0.00038
NM_201384.3(PLEC):c.3208A>G (p.Thr1070Ala) rs185859960 0.00038
NM_033380.3(COL4A5):c.2216C>A (p.Pro739His) rs201123438 0.00037
NM_182914.3(SYNE2):c.2270T>C (p.Leu757Ser) rs200319405 0.00037
NM_201384.3(PLEC):c.11329G>A (p.Glu3777Lys) rs538589589 0.00037
NM_000170.3(GLDC):c.2852C>A (p.Ser951Tyr) rs147472391 0.00036
NM_001122955.4(BSCL2):c.823G>A (p.Gly275Arg) rs151018278 0.00036
NM_001128840.3(CACNA1D):c.3853G>A (p.Ala1285Thr) rs144474773 0.00036
NM_001130987.2(DYSF):c.4143C>T (p.Gly1381=) rs145412880 0.00036
NM_005477.3(HCN4):c.2420G>A (p.Arg807His) rs200395062 0.00036
NM_005529.7(HSPG2):c.5206G>A (p.Val1736Ile) rs200506675 0.00036
NM_016239.4(MYO15A):c.3659G>A (p.Gly1220Glu) rs201689819 0.00036
NM_018136.5(ASPM):c.6702A>G (p.Gln2234=) rs142587742 0.00036
NM_020451.3(SELENON):c.1654G>A (p.Glu552Lys) rs200128474 0.00036
NM_024577.4(SH3TC2):c.2743A>T (p.Thr915Ser) rs141783628 0.00036
NM_152564.5(VPS13B):c.4757A>G (p.Asn1586Ser) rs147342579 0.00036
NM_182914.3(SYNE2):c.15857A>G (p.Tyr5286Cys) rs149354607 0.00036
NM_000161.3(GCH1):c.206C>T (p.Pro69Leu) rs56127440 0.00035
NM_001128840.3(CACNA1D):c.5296G>C (p.Ala1766Pro) rs199874790 0.00035
NM_001845.6(COL4A1):c.2669C>T (p.Pro890Leu) rs139859950 0.00035
NM_016341.4(PLCE1):c.1201T>C (p.Tyr401His) rs201401363 0.00035
NM_000360.4(TH):c.1255G>A (p.Val419Met) rs184106392 0.00034
NM_002292.4(LAMB2):c.598G>A (p.Val200Ile) rs149325182 0.00034
NM_003560.4(PLA2G6):c.1408A>G (p.Met470Val) rs201801144 0.00034
NM_005529.7(HSPG2):c.1585G>A (p.Val529Met) rs150648539 0.00034
NM_006493.4(CLN5):c.265G>A (p.Asp89Asn) rs138110438 0.00034
NM_020549.5(CHAT):c.2222G>A (p.Arg741Lys) rs114719193 0.00034
NM_182961.4(SYNE1):c.12970C>T (p.Arg4324Cys) rs142258643 0.00034
NM_182961.4(SYNE1):c.4732C>T (p.Pro1578Ser) rs199769508 0.00034
NM_001370298.3(FGD4):c.740T>C (p.Leu247Pro) rs142609007 0.00033
NM_002693.3(POLG):c.2890C>T (p.Arg964Cys) rs201477273 0.00033
NM_005548.3(KARS1):c.1485A>G (p.Ile495Met) rs144274136 0.00033
NM_006859.4(LIAS):c.944G>A (p.Arg315His) rs145535775 0.00033
NM_018319.4(TDP1):c.1343G>A (p.Arg448Gln) rs144746398 0.00033
NM_032737.4(LMNB2):c.574G>T (p.Ala192Ser) rs112419003 0.00033
NM_201525.4(ADGRG1):c.14C>T (p.Ser5Leu) rs147879224 0.00033
NM_000466.3(PEX1):c.3503A>G (p.Asp1168Gly) rs182452430 0.00032
NM_001267550.2(TTN):c.68864G>C (p.Gly22955Ala) rs201381085 0.00032
NM_002693.3(POLG):c.3098C>T (p.Ala1033Val) rs551708243 0.00032
NM_005529.7(HSPG2):c.7283G>T (p.Gly2428Val) rs561723497 0.00032
NM_005529.7(HSPG2):c.7423G>C (p.Gly2475Arg) rs142601663 0.00032
NM_005629.4(SLC6A8):c.544G>A (p.Val182Met) rs149024147 0.00032
NM_014053.4(FLVCR1):c.1158T>G (p.Ile386Met) rs149834738 0.00032
NM_014363.6(SACS):c.5583G>C (p.Trp1861Cys) rs140678034 0.00032
NM_016373.4(WWOX):c.1196C>T (p.Ala399Val) rs200815431 0.00032
NM_021098.3(CACNA1H):c.2264G>A (p.Gly755Asp) rs142306293 0.00032
NM_024577.4(SH3TC2):c.794C>T (p.Ser265Phe) rs149873249 0.00032
NM_024740.2(ALG9):c.694G>C (p.Ala232Pro) rs36111204 0.00032
NM_000051.4(ATM):c.7740A>C (p.Arg2580Ser) rs199915459 0.00031
NM_000142.5(FGFR3):c.2396C>T (p.Pro799Leu) rs150452037 0.00031
NM_000391.4(TPP1):c.1307T>C (p.Leu436Pro) rs150039898 0.00031
NM_001013693.3(LDLRAD2):c.*1278C>T rs376645617 0.00031
NM_001267550.2(TTN):c.1297G>A (p.Val433Ile) rs146000949 0.00031
NM_004004.6(GJB2):c.499G>A (p.Val167Met) rs111033360 0.00031
NM_004320.6(ATP2A1):c.1367A>G (p.Asn456Ser) rs185041245 0.00031
NM_005529.7(HSPG2):c.10214C>T (p.Thr3405Met) rs141464124 0.00031
NM_005529.7(HSPG2):c.337G>A (p.Glu113Lys) rs144511257 0.00031
NM_005529.7(HSPG2):c.8254G>A (p.Gly2752Arg) rs143734280 0.00031
NM_018136.5(ASPM):c.3772G>A (p.Ala1258Thr) rs142214506 0.00031
NM_032409.3(PINK1):c.776+38_776+40del rs760722267 0.00031
NM_182961.4(SYNE1):c.9091A>G (p.Arg3031Gly) rs144643941 0.00031
NM_000083.3(CLCN1):c.2545G>A (p.Ala849Thr) rs201861334 0.00030
NM_001039.4(SCNN1G):c.1939G>T (p.Asp647Tyr) rs72647543 0.00030
NM_001130987.2(DYSF):c.4792G>A (p.Ala1598Thr) rs146213322 0.00030
NM_001130987.2(DYSF):c.6063G>A (p.Ala2021=) rs138936064 0.00030
NM_001164508.2(NEB):c.12597G>A (p.Pro4199=) rs763783436 0.00030
NM_001267550.2(TTN):c.66673G>A (p.Asp22225Asn) rs72646870 0.00030
NM_018075.5(ANO10):c.850C>A (p.Pro284Thr) rs192531429 0.00030
NM_021098.3(CACNA1H):c.1778_1789del (p.His593_Thr597delinsPro) rs768475346 0.00030
NM_182914.3(SYNE2):c.11047T>A (p.Ser3683Thr) rs199977941 0.00030
NM_182961.4(SYNE1):c.21782G>A (p.Arg7261Gln) rs61742716 0.00030
NM_000051.4(ATM):c.4082A>G (p.Gln1361Arg) rs141921797 0.00029
NM_000336.3(SCNN1B):c.880+10G>A rs200089599 0.00029
NM_000478.6(ALPL):c.1505C>T (p.Ser502Leu) rs550358395 0.00029
NM_001009944.3(PKD1):c.8663G>A (p.Arg2888His) rs200168879 0.00029
NM_001146262.4(SYT14):c.-13T>C rs368545452 0.00029
NM_001174089.2(SLC4A11):c.2176G>A (p.Gly726Arg) rs143965185 0.00029
NM_001267550.2(TTN):c.28733C>T (p.Thr9578Met) rs184923756 0.00029
NM_001267550.2(TTN):c.835C>T (p.Arg279Trp) rs138060032 0.00029
NM_001292063.2(OTOG):c.5432C>T (p.Ala1811Val) rs779658224 0.00029
NM_002241.5(KCNJ10):c.1061A>G (p.Lys354Arg) rs142596580 0.00029
NM_003900.5(SQSTM1):c.457G>A (p.Val153Ile) rs145056421 0.00029
NM_005529.7(HSPG2):c.6935G>A (p.Arg2312Gln) rs151178822 0.00029
NM_006005.3(WFS1):c.1265C>T (p.Ala422Val) rs150368988 0.00029
NM_014363.6(SACS):c.9562T>C (p.Phe3188Leu) rs137905181 0.00029
NM_016239.4(MYO15A):c.10121G>A (p.Arg3374His) rs201794696 0.00029
NM_024570.4(RNASEH2B):c.868G>A (p.Asp290Asn) rs201190805 0.00029
NM_025137.4(SPG11):c.1775C>T (p.Ser592Leu) rs373796566 0.00029
NM_030962.4(SBF2):c.4522C>T (p.Arg1508Cys) rs141108330 0.00029
NM_152564.5(VPS13B):c.7669G>A (p.Asp2557Asn) rs773242093 0.00029
NM_182914.3(SYNE2):c.12307-5T>C rs374468002 0.00029
NM_182961.4(SYNE1):c.3271C>T (p.Arg1091Trp) rs147841761 0.00029
NM_003896.4(ST3GAL5):c.1247G>T (p.Arg416Leu) rs200683924 0.00028
NM_018451.5(CENPJ):c.376A>C (p.Ile126Leu) rs146704811 0.00028
NM_024577.4(SH3TC2):c.751C>T (p.Pro251Ser) rs144963732 0.00028
NM_182961.4(SYNE1):c.5170T>C (p.Phe1724Leu) rs141996707 0.00028
NM_201384.3(PLEC):c.4526G>A (p.Arg1509His) rs782666455 0.00028
NM_000098.3(CPT2):c.236A>C (p.Lys79Thr) rs150888506 0.00027
NM_000170.3(GLDC):c.619C>G (p.Leu207Val) rs142181803 0.00027
NM_000784.4(CYP27A1):c.148G>A (p.Val50Ile) rs149101812 0.00027
NM_001099922.3(ALG13):c.2975G>A (p.Cys992Tyr) rs190790872 0.00027
NM_001195263.2(PDZD7):c.1079G>A (p.Gly360Asp) rs571399433 0.00027
NM_002693.3(POLG):c.391T>C (p.Tyr131His) rs562847013 0.00027
NM_005529.7(HSPG2):c.12257G>A (p.Arg4086Gln) rs142235298 0.00027
NM_020247.5(COQ8A):c.62C>T (p.Ala21Val) rs142184584 0.00027
NM_025137.4(SPG11):c.6625C>T (p.Arg2209Cys) rs374057859 0.00027
NM_182961.4(SYNE1):c.12023C>A (p.Ala4008Asp) rs137985190 0.00027
NM_182961.4(SYNE1):c.7435A>G (p.Lys2479Glu) rs188146577 0.00027
NM_000051.4(ATM):c.4362A>C (p.Lys1454Asn) rs148993589 0.00026
NM_001164508.2(NEB):c.2540A>G (p.Asp847Gly) rs375894183 0.00026
NM_001244008.2(KIF1A):c.4927G>A (p.Asp1643Asn) rs200141437 0.00026
NM_001267550.2(TTN):c.46451G>A (p.Arg15484Lys) rs72677229 0.00026
NM_001267550.2(TTN):c.47513G>A (p.Arg15838Gln) rs199640194 0.00026
NM_001379200.1(TBX1):c.1336C>T (p.Pro446Ser) rs201993443 0.00026
NM_002693.3(POLG):c.328C>T (p.His110Tyr) rs139599587 0.00026
NM_003042.4(SLC6A1):c.1250G>A (p.Arg417His) rs191293931 0.00026
NM_005422.4(TECTA):c.327C>T (p.Gly109=) rs727504830 0.00026
NM_005529.7(HSPG2):c.12929A>C (p.Asp4310Ala) rs144864169 0.00026
NM_014053.4(FLVCR1):c.595C>T (p.Leu199Phe) rs41296694 0.00026
NM_015404.4(WHRN):c.1568G>A (p.Ser523Asn) rs140954343 0.00026
NM_021942.6(TRAPPC11):c.1901A>G (p.Asn634Ser) rs148567547 0.00026
NM_021942.6(TRAPPC11):c.2508G>A (p.Gln836=) rs201868142 0.00026
NM_024301.5(FKRP):c.1003G>A (p.Ala335Thr) rs776947530 0.00026
NM_025137.4(SPG11):c.395G>A (p.Ser132Asn) rs145132275 0.00026
NM_032806.6(POMGNT2):c.71G>A (p.Arg24Gln) rs139245562 0.00026
NM_033305.3(VPS13A):c.4390C>A (p.His1464Asn) rs148891181 0.00026
NM_182961.4(SYNE1):c.9605G>A (p.Arg3202His) rs146769373 0.00026
NM_201384.3(PLEC):c.9475G>A (p.Ala3159Thr) rs201030020 0.00026
NM_000548.5(TSC2):c.4223G>T (p.Gly1408Val) rs202068995 0.00025
NM_001009944.3(PKD1):c.10939C>T (p.Arg3647Trp) rs181927900 0.00025
NM_001267550.2(TTN):c.84923A>C (p.Gln28308Pro) rs201674674 0.00025
NM_001365999.1(SZT2):c.2888A>G (p.Lys963Arg) rs144176855 0.00025
NM_004320.6(ATP2A1):c.2000G>A (p.Arg667Gln) rs141250244 0.00025
NM_005529.7(HSPG2):c.2633G>A (p.Arg878His) rs149479865 0.00025
NM_020247.5(COQ8A):c.1286A>G (p.Tyr429Cys) rs144147839 0.00025
NM_022089.4(ATP13A2):c.472G>A (p.Gly158Arg) rs113643181 0.00025
NM_025137.4(SPG11):c.3988C>G (p.Gln1330Glu) rs375363608 0.00025
NM_032119.4(ADGRV1):c.7873C>T (p.Arg2625Cys) rs201583659 0.00025
NM_201384.3(PLEC):c.1438C>T (p.Arg480Cys) rs202172091 0.00025
NM_201384.3(PLEC):c.9652C>T (p.Arg3218Trp) rs368758264 0.00025
NM_000023.4(SGCA):c.680C>G (p.Pro227Arg) rs201131924 0.00024
NM_000152.5(GAA):c.922C>T (p.His308Tyr) rs112025212 0.00024
NM_000481.4(AMT):c.152C>T (p.Ala51Val) rs34812788 0.00024
NM_000497.4(CYP11B1):c.798C>T (p.Tyr266=) rs370404312 0.00024
NM_001009944.3(PKD1):c.776G>A (p.Cys259Tyr) rs529066905 0.00024
NM_001077365.2(POMT1):c.1598C>T (p.Ala533Val) rs199682341 0.00024
NM_001130987.2(DYSF):c.3125C>T (p.Pro1042Leu) rs372880553 0.00024
NM_001146262.4(SYT14):c.881G>A (p.Gly294Asp) rs149544914 0.00024
NM_001267550.2(TTN):c.59113C>T (p.Arg19705Cys) rs72646839 0.00024
NM_001267550.2(TTN):c.88972A>G (p.Ile29658Val) rs200193877 0.00024
NM_001278064.2(GRM1):c.1073G>A (p.Arg358Lys) rs112817798 0.00024
NM_001365999.1(SZT2):c.7513C>T (p.Arg2505Cys) rs199830565 0.00024
NM_003119.4(SPG7):c.1267G>A (p.Gly423Ser) rs201543030 0.00024
NM_005529.7(HSPG2):c.9060G>A (p.Arg3020=) rs372508479 0.00024
NM_014363.6(SACS):c.2806C>A (p.Gln936Lys) rs61978562 0.00024
NM_015046.7(SETX):c.5294A>G (p.Asn1765Ser) rs373085593 0.00024
NM_030665.4(RAI1):c.3589G>C (p.Gly1197Arg) rs200719553 0.00024
NM_182961.4(SYNE1):c.16295G>A (p.Arg5432Gln) rs200812806 0.00024
NM_182961.4(SYNE1):c.18091G>A (p.Glu6031Lys) rs142229551 0.00024
NM_182961.4(SYNE1):c.23659G>A (p.Val7887Met) rs143842011 0.00024
NM_182961.4(SYNE1):c.26044G>C (p.Gly8682Arg) rs201664645 0.00024
NM_182961.4(SYNE1):c.4471C>G (p.Gln1491Glu) rs144276162 0.00024
NM_001009944.3(PKD1):c.9187C>T (p.Arg3063Cys) rs145906459 0.00023
NM_001099922.3(ALG13):c.3143C>G (p.Ala1048Gly) rs773401427 0.00023
NM_001126121.2(SLC25A19):c.622C>T (p.Pro208Ser) rs200276538 0.00023
NM_001256545.2(MEGF10):c.50G>A (p.Cys17Tyr) rs145733370 0.00023
NM_001267550.2(TTN):c.94553T>C (p.Val31518Ala) rs377016580 0.00023
NM_002693.3(POLG):c.408C>G (p.Asp136Glu) rs115109291 0.00023
NM_005591.4(MRE11):c.1286T>C (p.Val429Ala) rs141293060 0.00023
NM_005592.4(MUSK):c.1099C>T (p.Arg367Trp) rs201014623 0.00023
NM_005670.4(EPM2A):c.143G>A (p.Gly48Asp) rs946076987 0.00023
NM_013275.6(ANKRD11):c.6580C>G (p.Gln2194Glu) rs201589586 0.00023
NM_016239.4(MYO15A):c.8347G>A (p.Val2783Met) rs201214320 0.00023
NM_181882.3(PRX):c.3580C>G (p.Leu1194Val) rs149732789 0.00023
NM_182961.4(SYNE1):c.21029T>A (p.Val7010Glu) rs141275966 0.00023
NM_182961.4(SYNE1):c.9377C>G (p.Ser3126Cys) rs139089832 0.00023
NM_201384.3(PLEC):c.5732G>A (p.Gly1911Glu) rs377030479 0.00023
NM_000051.4(ATM):c.6537T>G (p.Ile2179Met) rs146243469 0.00022
NM_000091.5(COL4A3):c.4523A>G (p.Asn1508Ser) rs200512461 0.00022
NM_001008537.3(NEXMIF):c.3775G>A (p.Ala1259Thr) rs761368099 0.00022
NM_001048166.1(STIL):c.3067G>T (p.Val1023Leu) rs144586803 0.00022
NM_001267550.2(TTN):c.19016A>G (p.Tyr6339Cys) rs192553687 0.00022
NM_001267550.2(TTN):c.32026A>G (p.Lys10676Glu) rs200952728 0.00022
NM_001267550.2(TTN):c.33911-6_33911-5insG rs765503214 0.00022
NM_001378454.1(ALMS1):c.12044G>A (p.Gly4015Asp) rs200462734 0.00022
NM_003119.4(SPG7):c.220G>A (p.Gly74Arg) rs114854791 0.00022
NM_004086.3(COCH):c.22G>A (p.Ala8Thr) rs200935305 0.00022
NM_005529.7(HSPG2):c.10525G>A (p.Glu3509Lys) rs143210045 0.00022
NM_005529.7(HSPG2):c.5335C>T (p.Arg1779Trp) rs148803046 0.00022
NM_014845.6(FIG4):c.2460-8A>G rs201965891 0.00022
NM_025137.4(SPG11):c.6010T>G (p.Leu2004Val) rs200220848 0.00022
NM_182961.4(SYNE1):c.6428A>G (p.Asp2143Gly) rs189734757 0.00022
NM_000092.5(COL4A4):c.2144C>T (p.Ala715Val) rs76636743 0.00021
NM_001077365.2(POMT1):c.1150G>A (p.Gly384Ser) rs146234177 0.00021
NM_001081.4(CUBN):c.9079G>A (p.Gly3027Arg) rs150202444 0.00021
NM_001130987.2(DYSF):c.6256A>G (p.Ile2086Val) rs150834671 0.00021
NM_001244008.2(KIF1A):c.3668C>T (p.Thr1223Met) rs374873057 0.00021
NM_001267550.2(TTN):c.7060C>T (p.Arg2354Cys) rs145039979 0.00021
NM_001278064.2(GRM1):c.1372T>G (p.Ser458Ala) rs151255685 0.00021
NM_001365999.1(SZT2):c.368A>G (p.His123Arg) rs147519875 0.00021
NM_001927.4(DES):c.736-8C>A rs140375681 0.00021
NM_002775.5(HTRA1):c.245C>G (p.Pro82Arg) rs541204010 0.00021
NM_005045.4(RELN):c.6726G>C (p.Arg2242Ser) rs201422815 0.00021
NM_006397.3(RNASEH2A):c.821A>G (p.Asn274Ser) rs373169862 0.00021
NM_014141.6(CNTNAP2):c.400T>G (p.Trp134Gly) rs139694086 0.00021
NM_015046.7(SETX):c.1391C>T (p.Ser464Leu) rs200614765 0.00021
NM_017739.4(POMGNT1):c.269G>A (p.Arg90His) rs139701867 0.00021
NM_018136.5(ASPM):c.8009T>C (p.Ile2670Thr) rs41299627 0.00021
NM_021942.6(TRAPPC11):c.3400T>C (p.Ter1134Arg) rs142222368 0.00021
NM_025137.4(SPG11):c.28G>A (p.Ala10Thr) rs372658867 0.00021
NM_177924.5(ASAH1):c.320A>G (p.Asn107Ser) rs200767975 0.00021
NM_182961.4(SYNE1):c.17974C>G (p.Pro5992Ala) rs200701182 0.00021
NM_182961.4(SYNE1):c.3669+4C>G rs376511242 0.00021
NM_182961.4(SYNE1):c.8311G>A (p.Val2771Ile) rs374862218 0.00021
NM_201384.3(PLEC):c.10603G>A (p.Glu3535Lys) rs200034893 0.00021
NM_000092.5(COL4A4):c.929G>A (p.Arg310Gln) rs373741172 0.00020
NM_000217.3(KCNA1):c.60G>C (p.Gln20His) rs201504073 0.00020
NM_001127222.2(CACNA1A):c.7189G>A (p.Val2397Met) rs768129470 0.00020
NM_001164508.2(NEB):c.6381T>A (p.Asp2127Glu) rs368302286 0.00020
NM_001267550.2(TTN):c.104516G>A (p.Arg34839Gln) rs371628882 0.00020
NM_001267550.2(TTN):c.13262A>G (p.Asn4421Ser) rs72648922 0.00020
NM_001267550.2(TTN):c.30389G>A (p.Arg10130His) rs373355159 0.00020
NM_001267550.2(TTN):c.31114G>C (p.Glu10372Gln) rs200831060 0.00020
NM_001267550.2(TTN):c.80555G>A (p.Arg26852His) rs202149931 0.00020
NM_001267550.2(TTN):c.84203G>C (p.Ser28068Thr) rs72648219 0.00020
NM_001267550.2(TTN):c.93244G>A (p.Glu31082Lys) rs199663613 0.00020
NM_001278064.2(GRM1):c.2725A>C (p.Met909Leu) rs138759146 0.00020
NM_003560.4(PLA2G6):c.439G>A (p.Ala147Thr) rs138672490 0.00020
NM_005529.7(HSPG2):c.878G>A (p.Arg293His) rs139873789 0.00020
NM_014043.4(CHMP2B):c.85A>G (p.Ile29Val) rs63750818 0.00020
NM_015046.7(SETX):c.4273A>G (p.Lys1425Glu) rs534886444 0.00020
NM_018136.5(ASPM):c.7428G>T (p.Lys2476Asn) rs200654820 0.00020
NM_018979.4(WNK1):c.5851A>G (p.Thr1951Ala) rs72650764 0.00020
NM_030962.4(SBF2):c.3831C>G (p.Ile1277Met) rs139522696 0.00020
NM_032119.4(ADGRV1):c.12349C>T (p.Arg4117Cys) rs138908576 0.00020
NM_182914.3(SYNE2):c.16312G>A (p.Asp5438Asn) rs201134182 0.00020
NM_182961.4(SYNE1):c.22346+6G>T rs368678916 0.00020
NM_201384.3(PLEC):c.11818G>A (p.Val3940Met) rs534537112 0.00020
NM_000023.4(SGCA):c.37+10G>T rs200626376 0.00019
NM_000051.4(ATM):c.5821G>C (p.Val1941Leu) rs147187700 0.00019
NM_000051.4(ATM):c.8734A>G (p.Arg2912Gly) rs376676328 0.00019
NM_000218.3(KCNQ1):c.386+16216G>A rs201090517 0.00019
NM_000426.4(LAMA2):c.2325C>A (p.Asn775Lys) rs139351727 0.00019
NM_000426.4(LAMA2):c.4909G>A (p.Glu1637Lys) rs138303386 0.00019
NM_001009944.3(PKD1):c.1117C>G (p.Leu373Val) rs765067070 0.00019
NM_001009944.3(PKD1):c.4008C>A (p.Asn1336Lys) rs770514810 0.00019
NM_001146262.4(SYT14):c.398C>T (p.Ser133Leu) rs145963511 0.00019
NM_001164508.2(NEB):c.18410C>T (p.Thr6137Met) rs201462794 0.00019
NM_001242896.3(DEPDC5):c.4391C>T (p.Thr1464Met) rs556147064 0.00019
NM_001267550.2(TTN):c.100447G>C (p.Glu33483Gln) rs368321767 0.00019
NM_001267550.2(TTN):c.3133G>A (p.Val1045Met) rs72647868 0.00019
NM_001267550.2(TTN):c.3170T>C (p.Val1057Ala) rs145940356 0.00019
NM_001267550.2(TTN):c.33856G>A (p.Glu11286Lys) rs376874956 0.00019
NM_001267550.2(TTN):c.52826A>T (p.Gln17609Leu) rs368820294 0.00019
NM_001267550.2(TTN):c.89314G>A (p.Glu29772Lys) rs200503016 0.00019
NM_001367561.1(DOCK7):c.3797G>A (p.Arg1266Gln) rs138914992 0.00019
NM_003793.4(CTSF):c.19C>T (p.Leu7Phe) rs544669445 0.00019
NM_005045.4(RELN):c.10016T>C (p.Met3339Thr) rs150638029 0.00019
NM_005529.7(HSPG2):c.1259G>A (p.Arg420Gln) rs143706338 0.00019
NM_014053.4(FLVCR1):c.254G>C (p.Gly85Ala) rs760414651 0.00019
NM_015087.5(SPART):c.1414G>T (p.Ala472Ser) rs142482393 0.00019
NM_018075.5(ANO10):c.1864A>G (p.Met622Val) rs141806947 0.00019
NM_018075.5(ANO10):c.790G>A (p.Gly264Ser) rs375470443 0.00019
NM_018136.5(ASPM):c.3311G>A (p.Gly1104Asp) rs146959075 0.00019
NM_021942.6(TRAPPC11):c.2419G>A (p.Val807Met) rs139113789 0.00019
NM_022772.4(EPS8L2):c.80T>C (p.Met27Thr) rs143833069 0.00019
NM_181882.3(PRX):c.257G>A (p.Cys86Tyr) rs565094384 0.00019
NM_182961.4(SYNE1):c.10475G>A (p.Arg3492His) rs148522587 0.00019
NM_182961.4(SYNE1):c.13768A>G (p.Asn4590Asp) rs199761238 0.00019
NM_182961.4(SYNE1):c.23216C>A (p.Ser7739Tyr) rs149744490 0.00019
NM_182961.4(SYNE1):c.7045C>T (p.Leu2349Phe) rs370016934 0.00019
NM_201384.3(PLEC):c.9580G>A (p.Glu3194Lys) rs529809254 0.00019
NM_000370.3(TTPA):c.204+6C>T rs574780098 0.00018
NM_000370.3(TTPA):c.760G>T (p.Asp254Tyr) rs374606907 0.00018
NM_001009944.3(PKD1):c.5665G>A (p.Gly1889Ser) rs138471993 0.00018
NM_001130987.2(DYSF):c.2257C>A (p.His753Asn) rs202123283 0.00018
NM_001130987.2(DYSF):c.3304C>T (p.Arg1102Cys) rs764208388 0.00018
NM_001164508.2(NEB):c.4046T>C (p.Leu1349Pro) rs183667452 0.00018
NM_001267550.2(TTN):c.100432T>G (p.Trp33478Gly) rs372304158 0.00018
NM_001267550.2(TTN):c.43577G>A (p.Arg14526Gln) rs373491468 0.00018
NM_003482.4(KMT2D):c.14413G>A (p.Glu4805Lys) rs563335387 0.00018
NM_005529.7(HSPG2):c.6002G>A (p.Arg2001Gln) rs368627489 0.00018
NM_005529.7(HSPG2):c.6820G>A (p.Ala2274Thr) rs190391786 0.00018
NM_014141.6(CNTNAP2):c.2606T>C (p.Ile869Thr) rs121908445 0.00018
NM_015346.4(ZFYVE26):c.6154G>A (p.Val2052Ile) rs201273304 0.00018
NM_018136.5(ASPM):c.4933G>A (p.Gly1645Arg) rs201927596 0.00018
NM_022464.5(SIL1):c.310C>G (p.Leu104Val) rs150892227 0.00018
NM_182914.3(SYNE2):c.19034G>A (p.Arg6345Gln) rs141882853 0.00018
NM_201384.3(PLEC):c.13247C>T (p.Thr4416Met) rs201855218 0.00018
NM_201384.3(PLEC):c.8497G>A (p.Gly2833Ser) rs782099953 0.00018
NM_201525.4(ADGRG1):c.401C>T (p.Pro134Leu) rs138344683 0.00018
NM_213599.3(ANO5):c.553G>C (p.Glu185Gln) rs140381407 0.00018
NM_000051.4(ATM):c.1009C>T (p.Arg337Cys) rs138398778 0.00017
NM_000170.3(GLDC):c.2352C>T (p.Pro784=) rs367781728 0.00017
NM_000256.3(MYBPC3):c.3415G>A (p.Val1139Ile) rs373519667 0.00017
NM_001077365.2(POMT1):c.586G>A (p.Ala196Thr) rs199498900 0.00017
NM_001127222.2(CACNA1A):c.6494G>A (p.Arg2165His) rs727503832 0.00017
NM_001127222.2(CACNA1A):c.7050C>T (p.Ala2350=) rs932173199 0.00017
NM_001145026.2(PTPRQ):c.5191G>A (p.Gly1731Ser) rs1028900450 0.00017
NM_001267550.2(TTN):c.22439A>C (p.Gln7480Pro) rs201065037 0.00017
NM_001267550.2(TTN):c.38506G>A (p.Val12836Met) rs779238709 0.00017
NM_001267550.2(TTN):c.50212G>A (p.Glu16738Lys) rs148018042 0.00017
NM_001278064.2(GRM1):c.1689A>C (p.Lys563Asn) rs372316073 0.00017
NM_005529.7(HSPG2):c.12520C>T (p.Arg4174Cys) rs199899258 0.00017
NM_012301.4(MAGI2):c.307A>G (p.Ile103Val) rs1238715028 0.00017
NM_014363.6(SACS):c.2492A>G (p.Glu831Gly) rs375968367 0.00017
NM_014363.6(SACS):c.6640C>T (p.Arg2214Cys) rs138379074 0.00017
NM_014855.3(AP5Z1):c.2053C>T (p.Arg685Cys) rs367867460 0.00017
NM_018075.5(ANO10):c.236T>G (p.Met79Arg) rs201275096 0.00017
NM_018319.4(TDP1):c.137A>G (p.Tyr46Cys) rs141387488 0.00017
NM_018319.4(TDP1):c.236G>C (p.Ser79Thr) rs148927677 0.00017
NM_018972.4(GDAP1):c.399G>A (p.Met133Ile) rs139808557 0.00017
NM_031443.4(CCM2):c.1061G>A (p.Arg354Lys) rs145579135 0.00017
NM_182914.3(SYNE2):c.12655G>A (p.Ala4219Thr) rs138644399 0.00017
NM_182961.4(SYNE1):c.16831C>T (p.Arg5611Trp) rs369292604 0.00017
NM_182961.4(SYNE1):c.22910G>C (p.Ser7637Thr) rs201497427 0.00017
NM_000051.4(ATM):c.9086G>A (p.Gly3029Asp) rs201199629 0.00016
NM_000352.6(ABCC8):c.1919C>T (p.Ala640Val) rs369049969 0.00016
NM_000426.4(LAMA2):c.7057C>T (p.Arg2353Cys) rs145885540 0.00016
NM_000784.4(CYP27A1):c.1017+5G>A rs370304209 0.00016
NM_000784.4(CYP27A1):c.1343G>A (p.Arg448His) rs370868184 0.00016
NM_001009944.3(PKD1):c.1967T>A (p.Leu656Gln) rs759950842 0.00016
NM_001009944.3(PKD1):c.9451C>T (p.His3151Tyr) rs149872222 0.00016
NM_001080414.4(CCDC88C):c.2958G>A (p.Met986Ile) rs182438780 0.00016
NM_001122955.4(BSCL2):c.1367G>A (p.Arg456His) rs149466797 0.00016
NM_001127222.2(CACNA1A):c.5170G>A (p.Asp1724Asn) rs371595464 0.00016
NM_001130987.2(DYSF):c.3778C>T (p.Arg1260Cys) rs369170272 0.00016
NM_001130987.2(DYSF):c.5362C>T (p.Arg1788Cys) rs545645581 0.00016
NM_001164508.2(NEB):c.7309C>T (p.Arg2437Trp) rs375164626 0.00016
NM_001195248.2(APTX):c.181G>A (p.Val61Ile) rs755448350 0.00016
NM_001267550.2(TTN):c.102877A>G (p.Lys34293Glu) rs72629783 0.00016
NM_001267550.2(TTN):c.106955G>A (p.Arg35652Gln) rs200497615 0.00016
NM_001267550.2(TTN):c.12145C>T (p.Pro4049Ser) rs201888760 0.00016
NM_001267550.2(TTN):c.54104C>T (p.Ala18035Val) rs182445366 0.00016
NM_001267550.2(TTN):c.63626G>A (p.Arg21209Gln) rs148684589 0.00016
NM_001267550.2(TTN):c.64898G>A (p.Arg21633Gln) rs141965360 0.00016
NM_001267550.2(TTN):c.92684G>A (p.Arg30895Gln) rs200141081 0.00016
NM_001393500.2(TOMT):c.703C>T (p.His235Tyr) rs570166217 0.00016
NM_001927.4(DES):c.643G>A (p.Val215Met) rs144908941 0.00016
NM_002693.3(POLG):c.32G>A (p.Gly11Asp) rs765472726 0.00016
NM_004004.6(GJB2):c.355G>A (p.Glu119Lys) rs150529554 0.00016
NM_004006.3(DMD):c.1761A>G (p.Thr587=) rs370103963 0.00016
NM_004287.5(GOSR2):c.64C>T (p.Leu22=) rs770760366 0.00016
NM_004960.4(FUS):c.1292C>T (p.Pro431Leu) rs186547381 0.00016
NM_005529.7(HSPG2):c.5347G>A (p.Val1783Met) rs200944352 0.00016
NM_005529.7(HSPG2):c.5486A>G (p.Asn1829Ser) rs371550970 0.00016
NM_005529.7(HSPG2):c.7843G>A (p.Val2615Ile) rs142226974 0.00016
NM_005591.4(MRE11):c.1643T>C (p.Ile548Thr) rs373522639 0.00016
NM_015046.7(SETX):c.1066G>A (p.Val356Ile) rs143270460 0.00016
NM_015046.7(SETX):c.7195A>G (p.Ile2399Val) rs150489999 0.00016
NM_015634.4(KIFBP):c.550A>G (p.Thr184Ala) rs112642097 0.00016
NM_017433.5(MYO3A):c.2774C>T (p.Thr925Met) rs149803315 0.00016
NM_020247.5(COQ8A):c.1556C>G (p.Thr519Ser) rs141260985 0.00016
NM_022464.5(SIL1):c.424G>C (p.Ala142Pro) rs142987777 0.00016
NM_024306.5(FA2H):c.1112C>T (p.Thr371Met) rs141854925 0.00016
NM_024577.4(SH3TC2):c.1973G>A (p.Arg658His) rs138040787 0.00016
NM_024577.4(SH3TC2):c.2954A>G (p.Glu985Gly) rs575937427 0.00016
NM_030962.4(SBF2):c.3127A>G (p.Ile1043Val) rs147438385 0.00016
NM_152743.4(BRAT1):c.1087G>A (p.Gly363Ser) rs967919052 0.00016
NM_182961.4(SYNE1):c.16687C>T (p.Arg5563Trp) rs375097544 0.00016
NM_182961.4(SYNE1):c.21731A>G (p.Tyr7244Cys) rs536892317 0.00016
NM_182961.4(SYNE1):c.25342G>A (p.Asp8448Asn) rs139679692 0.00016
NM_182961.4(SYNE1):c.25484G>A (p.Arg8495His) rs558046278 0.00016
NM_182961.4(SYNE1):c.4261A>G (p.Lys1421Glu) rs369236839 0.00016
NM_182961.4(SYNE1):c.4636A>G (p.Thr1546Ala) rs146965313 0.00016
NM_182961.4(SYNE1):c.6649G>A (p.Val2217Ile) rs377531174 0.00016
NM_201378.4(PLEC):c.71-11719G>A rs202165668 0.00016
NM_201384.3(PLEC):c.5965C>T (p.Arg1989Cys) rs201465091 0.00016
NM_207346.3(TSEN54):c.991G>A (p.Glu331Lys) rs773368581 0.00016
NM_000026.4(ADSL):c.357+6C>T rs181628906 0.00015
NM_000051.4(ATM):c.2887A>G (p.Met963Val) rs374353016 0.00015
NM_000051.4(ATM):c.8156G>A (p.Arg2719His) rs55982963 0.00015
NM_000083.3(CLCN1):c.139C>T (p.Arg47Trp) rs185031797 0.00015
NM_000162.5(GCK):c.364-13G>A rs372405219 0.00015
NM_000540.3(RYR1):c.305A>G (p.Tyr102Cys) rs760138384 0.00015
NM_001040142.2(SCN2A):c.5753G>A (p.Arg1918His) rs201718767 0.00015
NM_001077365.2(POMT1):c.1117G>C (p.Val373Leu) rs200508760 0.00015
NM_001097577.3(ANG):c.61C>T (p.Pro21Ser) rs149672657 0.00015
NM_001130987.2(DYSF):c.3409G>A (p.Val1137Met) rs144634077 0.00015
NM_001244008.2(KIF1A):c.3680C>T (p.Pro1227Leu) rs374244985 0.00015
NM_001267550.2(TTN):c.25877A>G (p.Asn8626Ser) rs200355367 0.00015
NM_001267550.2(TTN):c.56255C>T (p.Pro18752Leu) rs200132226 0.00015
NM_001371279.1(REEP1):c.*82G>A rs904027097 0.00015
NM_001845.6(COL4A1):c.3170T>C (p.Ile1057Thr) rs569940067 0.00015
NM_002693.3(POLG):c.1356T>C (p.Tyr452=) rs3176179 0.00015
NM_004004.6(GJB2):c.670A>C (p.Lys224Gln) rs111033194 0.00015
NM_004393.6(DAG1):c.1757C>T (p.Ser586Leu) rs371990100 0.00015
NM_014043.4(CHMP2B):c.581C>T (p.Ser194Leu) rs149380040 0.00015
NM_015046.7(SETX):c.1869A>C (p.Glu623Asp) rs139200312 0.00015
NM_017739.4(POMGNT1):c.1454G>A (p.Arg485His) rs544816408 0.00015
NM_018100.4(EFHC1):c.1369C>T (p.Arg457Cys) rs373196171 0.00015
NM_018136.5(ASPM):c.2761-11T>C rs368239890 0.00015
NM_033305.3(VPS13A):c.7047G>A (p.Glu2349=) rs552113529 0.00015
NM_182961.4(SYNE1):c.12115G>A (p.Val4039Ile) rs199774691 0.00015
NM_182961.4(SYNE1):c.13849A>C (p.Asn4617His) rs147667464 0.00015
NM_182961.4(SYNE1):c.18817G>A (p.Glu6273Lys) rs201346604 0.00015
NM_182961.4(SYNE1):c.21440T>C (p.Met7147Thr) rs140962690 0.00015
NM_201384.3(PLEC):c.11657G>A (p.Arg3886His) rs368152307 0.00015
NM_201384.3(PLEC):c.6243C>T (p.Gly2081=) rs782746363 0.00015
NM_000051.4(ATM):c.2927T>C (p.Val976Ala) rs146145357 0.00014
NM_000051.4(ATM):c.4066A>G (p.Asn1356Asp) rs147600485 0.00014
NM_000051.4(ATM):c.6194T>C (p.Ile2065Thr) rs372838622 0.00014
NM_000051.4(ATM):c.7618G>A (p.Val2540Ile) rs35203200 0.00014
NM_000144.5(FXN):c.70C>T (p.Leu24Phe) rs1052328470 0.00014
NM_000231.3(SGCG):c.803C>T (p.Pro268Leu) rs143110015 0.00014
NM_000260.4(MYO7A):c.1801G>A (p.Ala601Thr) rs782481491 0.00014
NM_000338.3(SLC12A1):c.2342A>G (p.Tyr781Cys) rs370908136 0.00014
NM_000426.4(LAMA2):c.3628A>G (p.Ile1210Val) rs147291222 0.00014
NM_000426.4(LAMA2):c.5291A>G (p.Glu1764Gly) rs141950826 0.00014
NM_000540.3(RYR1):c.3095G>A (p.Arg1032His) rs141942845 0.00014
NM_000784.4(CYP27A1):c.215T>A (p.Leu72Gln) rs138189735 0.00014
NM_001130987.2(DYSF):c.5276G>A (p.Arg1759His) rs147678255 0.00014
NM_001130987.2(DYSF):c.854G>A (p.Arg285Gln) rs140002194 0.00014
NM_001267550.2(TTN):c.107915G>T (p.Ser35972Ile) rs397517478 0.00014
NM_001267550.2(TTN):c.2731G>A (p.Val911Ile) rs141961878 0.00014
NM_001267550.2(TTN):c.3010G>A (p.Glu1004Lys) rs200902055 0.00014
NM_001267550.2(TTN):c.35371G>T (p.Val11791Phe) rs200587998 0.00014
NM_001267550.2(TTN):c.54160G>C (p.Val18054Leu) rs200968679 0.00014
NM_001267550.2(TTN):c.57656A>T (p.Tyr19219Phe) rs201541213 0.00014
NM_001267550.2(TTN):c.75490G>A (p.Asp25164Asn) rs192468365 0.00014
NM_001267550.2(TTN):c.96173G>A (p.Arg32058Gln) rs374063064 0.00014
NM_001367561.1(DOCK7):c.3300+8A>G rs368422761 0.00014
NM_001371623.1(TCOF1):c.4079C>T (p.Pro1360Leu) rs541861585 0.00014
NM_001927.4(DES):c.893C>T (p.Ser298Leu) rs62636491 0.00014
NM_002693.3(POLG):c.3436C>T (p.Arg1146Cys) rs2307440 0.00014
NM_004172.5(SLC1A3):c.613G>A (p.Ala205Thr) rs747247810 0.00014
NM_004393.6(DAG1):c.965C>T (p.Thr322Ile) rs376602004 0.00014
NM_004568.6(SERPINB6):c.983C>T (p.Thr328Met) rs376116821 0.00014
NM_005045.4(RELN):c.7634C>T (p.Ala2545Val) rs116634494 0.00014
NM_005477.3(HCN4):c.2730C>A (p.Phe910Leu) rs200814534 0.00014
NM_005529.7(HSPG2):c.5891G>A (p.Arg1964Lys) rs373448635 0.00014
NM_005591.4(MRE11):c.1334A>G (p.Gln445Arg) rs371730091 0.00014
NM_005866.4(SIGMAR1):c.11C>T (p.Ala4Val) rs367968662 0.00014
NM_006096.4(NDRG1):c.1088G>A (p.Arg363His) rs181121989 0.00014
NM_014845.6(FIG4):c.1348C>T (p.Arg450Cys) rs201072058 0.00014
NM_015346.4(ZFYVE26):c.1482C>A (p.Asn494Lys) rs559473389 0.00014
NM_015346.4(ZFYVE26):c.3802C>T (p.Leu1268Phe) rs202021708 0.00014
NM_016156.6(MTMR2):c.16A>T (p.Ser6Cys) rs377006678 0.00014
NM_016156.6(MTMR2):c.604C>G (p.Pro202Ala) rs186380748 0.00014
NM_016239.4(MYO15A):c.9772G>A (p.Val3258Ile) rs79745502 0.00014
NM_018075.5(ANO10):c.837A>T (p.Arg279Ser) rs374795191 0.00014
NM_018319.4(TDP1):c.208T>A (p.Ser70Thr) rs140058160 0.00014
NM_020247.5(COQ8A):c.1057C>T (p.Arg353Cys) rs373083392 0.00014
NM_020919.4(ALS2):c.3746T>C (p.Phe1249Ser) rs551822626 0.00014
NM_021098.3(CACNA1H):c.1753C>T (p.Pro585Ser) rs535609762 0.00014
NM_024577.4(SH3TC2):c.1607G>A (p.Arg536Gln) rs369977771 0.00014
NM_025137.4(SPG11):c.2318T>G (p.Val773Gly) rs182080501 0.00014
NM_057176.3(BSND):c.763G>C (p.Glu255Gln) rs148609746 0.00014
NM_152564.5(VPS13B):c.7660G>C (p.Val2554Leu) rs202226215 0.00014
NM_176787.5(PIGN):c.2679C>G (p.Ser893Arg) rs199573774 0.00014
NM_176787.5(PIGN):c.2750C>T (p.Thr917Met) rs61755364 0.00014
NM_177924.5(ASAH1):c.-6A>G rs200503438 0.00014
NM_181882.3(PRX):c.2449C>T (p.Arg817Cys) rs147441856 0.00014
NM_182961.4(SYNE1):c.10078C>A (p.Gln3360Lys) rs774710219 0.00014
NM_182961.4(SYNE1):c.14029G>A (p.Ala4677Thr) rs374301933 0.00014
NM_182961.4(SYNE1):c.15535G>T (p.Ala5179Ser) rs375686353 0.00014
NM_182961.4(SYNE1):c.22783A>G (p.Ile7595Val) rs146320179 0.00014
NM_182961.4(SYNE1):c.23222A>G (p.Tyr7741Cys) rs34974663 0.00014
NM_182961.4(SYNE1):c.7076C>A (p.Thr2359Asn) rs142747430 0.00014
NM_201384.3(PLEC):c.12992C>T (p.Pro4331Leu) rs199651668 0.00014
NM_000051.4(ATM):c.8560C>T (p.Arg2854Cys) rs201958469 0.00013
NM_000110.4(DPYD):c.274C>G (p.Pro92Ala) rs143986398 0.00013
NM_000156.6(GAMT):c.575C>T (p.Thr192Met) rs141066224 0.00013
NM_000238.4(KCNH2):c.2692+7C>T rs372023163 0.00013
NM_000335.5(SCN5A):c.5857G>A (p.Glu1953Lys) rs397517956 0.00013
NM_001005361.3(DNM2):c.1645T>A (p.Ser549Thr) rs144763522 0.00013
NM_001009944.3(PKD1):c.7039C>T (p.Arg2347Cys) rs781114712 0.00013
NM_001127222.2(CACNA1A):c.3043G>A (p.Gly1015Arg) rs190551509 0.00013
NM_001127222.2(CACNA1A):c.539+9C>T rs369146237 0.00013
NM_001130987.2(DYSF):c.127G>A (p.Val43Met) rs374203339 0.00013
NM_001267550.2(TTN):c.100417G>A (p.Gly33473Ser) rs397517783 0.00013
NM_001267550.2(TTN):c.49172G>A (p.Arg16391Gln) rs200944827 0.00013
NM_001384474.1(LOXHD1):c.287G>A (p.Arg96Gln) rs376467400 0.00013
NM_002529.4(NTRK1):c.1747C>T (p.Arg583Cys) rs371344688 0.00013
NM_002693.3(POLG):c.2939A>C (p.Glu980Ala) rs754202777 0.00013
NM_002775.5(HTRA1):c.1333G>A (p.Ala445Thr) rs371279115 0.00013
NM_003119.4(SPG7):c.80C>G (p.Pro27Arg) rs878854605 0.00013
NM_003494.4(DYSF):c.1508C>T (p.Ser503Leu) rs144931729 0.00013
NM_005529.7(HSPG2):c.2435G>A (p.Arg812Gln) rs150650673 0.00013
NM_005529.7(HSPG2):c.4234G>A (p.Gly1412Ser) rs146184130 0.00013
NM_005529.7(HSPG2):c.5381C>T (p.Thr1794Ile) rs763773500 0.00013
NM_012232.6(CAVIN1):c.647C>T (p.Ser216Phe) rs149017106 0.00013
NM_012233.3(RAB3GAP1):c.2946A>G (p.Ter982Trp) rs141436429 0.00013
NM_014363.6(SACS):c.1219C>A (p.Leu407Ile) rs201569239 0.00013
NM_018129.4(PNPO):c.322C>T (p.Arg108Cys) rs746311862 0.00013
NM_021098.3(CACNA1H):c.6440C>T (p.Pro2147Leu) rs748980218 0.00013
NM_024577.4(SH3TC2):c.2582G>A (p.Arg861Gln) rs142971473 0.00013
NM_024577.4(SH3TC2):c.31C>T (p.Arg11Trp) rs149762843 0.00013
NM_024596.5(MCPH1):c.2272G>A (p.Asp758Asn) rs376082728 0.00013
NM_033305.3(VPS13A):c.3733A>G (p.Met1245Val) rs145398548 0.00013
NM_033305.3(VPS13A):c.787G>A (p.Val263Met) rs372957084 0.00013
NM_152564.5(VPS13B):c.56A>G (p.Lys19Arg) rs200327756 0.00013
NM_173500.4(TTBK2):c.1897T>C (p.Tyr633His) rs370977106 0.00013
NM_176787.5(PIGN):c.1110G>C (p.Gln370His) rs185022348 0.00013
NM_182961.4(SYNE1):c.226-2dup rs774388631 0.00013
NM_182961.4(SYNE1):c.4378G>A (p.Val1460Ile) rs376463379 0.00013
NM_182961.4(SYNE1):c.8375G>A (p.Arg2792His) rs139175290 0.00013
NM_182961.4(SYNE1):c.9604C>T (p.Arg3202Cys) rs749550071 0.00013
NM_201384.3(PLEC):c.10000G>A (p.Gly3334Ser) rs202003084 0.00013
NM_201384.3(PLEC):c.13598C>T (p.Ser4533Leu) rs574054664 0.00013
NM_201384.3(PLEC):c.8033C>T (p.Thr2678Met) rs201093335 0.00013
NM_201384.3(PLEC):c.9247C>T (p.Arg3083Cys) rs201455467 0.00013
NM_203446.3(SYNJ1):c.3638G>A (p.Arg1213Gln) rs144048853 0.00013
NM_000051.4(ATM):c.4375G>A (p.Gly1459Arg) rs145667735 0.00012
NM_000085.5(CLCNKB):c.1375A>C (p.Asn459His) rs765895186 0.00012
NM_000478.6(ALPL):c.914C>T (p.Thr305Met) rs146908399 0.00012
NM_001099922.3(ALG13):c.2606C>T (p.Ala869Val) rs138712375 0.00012
NM_001267550.2(TTN):c.14813T>C (p.Phe4938Ser) rs560537668 0.00012
NM_001267550.2(TTN):c.17818T>C (p.Cys5940Arg) rs374882815 0.00012
NM_001267550.2(TTN):c.4160T>C (p.Leu1387Pro) rs115303497 0.00012
NM_001267550.2(TTN):c.59236G>A (p.Gly19746Ser) rs372802352 0.00012
NM_001267550.2(TTN):c.60197C>T (p.Pro20066Leu) rs750217838 0.00012
NM_001267550.2(TTN):c.81671A>G (p.Asn27224Ser) rs368443217 0.00012
NM_001267550.2(TTN):c.91399C>T (p.Arg30467Cys) rs775591945 0.00012
NM_001278116.2(L1CAM):c.3057T>G (p.Asp1019Glu) rs200815347 0.00012
NM_002296.4(LBR):c.283C>T (p.Arg95Cys) rs11551873 0.00012
NM_002693.3(POLG):c.1403A>G (p.Asn468Ser) rs368614463 0.00012
NM_005506.4(SCARB2):c.1262C>T (p.Thr421Met) rs149474488 0.00012
NM_005529.7(HSPG2):c.2023C>T (p.Arg675Trp) rs373299826 0.00012
NM_005529.7(HSPG2):c.2890A>T (p.Thr964Ser) rs557553229 0.00012
NM_005529.7(HSPG2):c.8903G>A (p.Arg2968Gln) rs146428410 0.00012
NM_012210.4(TRIM32):c.863C>A (p.Pro288His) rs367574371 0.00012
NM_014363.6(SACS):c.2294A>G (p.Tyr765Cys) rs141553858 0.00012
NM_014363.6(SACS):c.5391G>C (p.Lys1797Asn) rs144715822 0.00012
NM_015046.7(SETX):c.5051C>G (p.Ser1684Cys) rs140116005 0.00012
NM_032119.4(ADGRV1):c.8401G>A (p.Gly2801Arg) rs760510612 0.00012
NM_138691.3(TMC1):c.473G>A (p.Arg158His) rs148340276 0.00012
NM_152393.4(KLHL40):c.1077C>G (p.Asn359Lys) rs377564589 0.00012
NM_173500.4(TTBK2):c.1645T>G (p.Ser549Ala) rs376556189 0.00012
NM_176787.5(PIGN):c.2447A>G (p.Tyr816Cys) rs200750917 0.00012
NM_182961.4(SYNE1):c.11675T>C (p.Leu3892Ser) rs180727534 0.00012
NM_182961.4(SYNE1):c.15377A>C (p.Glu5126Ala) rs773536890 0.00012
NM_000051.4(ATM):c.1727T>C (p.Ile576Thr) rs730881342 0.00011
NM_000051.4(ATM):c.5185G>C (p.Val1729Leu) rs3092907 0.00011
NM_000089.4(COL1A2):c.2969C>A (p.Ala990Asp) rs1014550811 0.00011
NM_000144.5(FXN):c.-9C>G rs952412861 0.00011
NM_000156.6(GAMT):c.707G>C (p.Gly236Ala) rs201029006 0.00011
NM_000162.5(GCK):c.363+9C>T rs200985182 0.00011
NM_000231.3(SGCG):c.653T>C (p.Ile218Thr) rs202045534 0.00011
NM_000352.6(ABCC8):c.1562G>A (p.Arg521Gln) rs368114790 0.00011
NM_000435.3(NOTCH3):c.1774C>A (p.Arg592Ser) rs764148985 0.00011
NM_000435.3(NOTCH3):c.3664T>G (p.Cys1222Gly) rs199638166 0.00011
NM_000500.9(CYP21A2):c.371C>T (p.Thr124Ile) rs566065375 0.00011
NM_000527.5(LDLR):c.2106G>A (p.Met702Ile) rs140731590 0.00011
NM_000540.3(RYR1):c.14524G>A (p.Val4842Met) rs193922879 0.00011
NM_000540.3(RYR1):c.2366G>A (p.Arg789Gln) rs200069592 0.00011
NM_000545.8(HNF1A):c.1706G>A (p.Ser569Asn) rs752219487 0.00011
NM_000784.4(CYP27A1):c.355C>T (p.Arg119Trp) rs369294392 0.00011
NM_001009944.3(PKD1):c.7918G>T (p.Ala2640Ser) rs768100426 0.00011
NM_001077365.2(POMT1):c.1793G>A (p.Arg598Gln) rs202140413 0.00011
NM_001083961.2(WDR62):c.16T>G (p.Ser6Ala) rs573013010 0.00011
NM_001112741.2(KCNC1):c.1657G>A (p.Glu553Lys) rs531563186 0.00011
NM_001164508.2(NEB):c.23927C>T (p.Ser7976Leu) rs202137113 0.00011
NM_001178015.2(SLC4A10):c.1636T>G (p.Phe546Val) rs199634510 0.00011
NM_001244008.2(KIF1A):c.1181-6C>G rs535005700 0.00011
NM_001267550.2(TTN):c.105940G>A (p.Ala35314Thr) rs377171054 0.00011
NM_001267550.2(TTN):c.30598G>C (p.Glu10200Gln) rs779015756 0.00011
NM_001267550.2(TTN):c.61484G>A (p.Arg20495His) rs775137607 0.00011
NM_001267550.2(TTN):c.73334C>T (p.Thr24445Ile) rs377334665 0.00011
NM_001267550.2(TTN):c.7618C>T (p.Arg2540Cys) rs368574470 0.00011
NM_001267550.2(TTN):c.81794C>T (p.Thr27265Ile) rs371129005 0.00011
NM_001378452.1(ITPR1):c.2299C>T (p.Arg767Cys) rs377248442 0.00011
NM_001927.4(DES):c.665G>A (p.Arg222His) rs367961979 0.00011
NM_002206.3(ITGA7):c.2534C>T (p.Thr845Met) rs55654066 0.00011
NM_003119.4(SPG7):c.76G>T (p.Gly26Cys) rs763721899 0.00011
NM_005045.4(RELN):c.1336G>C (p.Glu446Gln) rs56146903 0.00011
NM_005529.7(HSPG2):c.12001G>A (p.Val4001Ile) rs985624091 0.00011
NM_005529.7(HSPG2):c.8900C>T (p.Ala2967Val) rs201733295 0.00011
NM_005591.4(MRE11):c.311G>C (p.Ser104Thr) rs587780140 0.00011
NM_005670.4(EPM2A):c.490A>G (p.Ile164Val) rs199856913 0.00011
NM_005670.4(EPM2A):c.644A>T (p.Asp215Val) rs144565191 0.00011
NM_014053.4(FLVCR1):c.71C>T (p.Pro24Leu) rs562153726 0.00011
NM_014363.6(SACS):c.4936C>A (p.Leu1646Met) rs200810800 0.00011
NM_014363.6(SACS):c.7288G>A (p.Glu2430Lys) rs201798841 0.00011
NM_014855.3(AP5Z1):c.1003C>G (p.Leu335Val) rs199930373 0.00011
NM_018136.5(ASPM):c.933C>G (p.Ser311Arg) rs563858170 0.00011
NM_018319.4(TDP1):c.1342C>T (p.Arg448Trp) rs141725364 0.00011
NM_021008.4(DEAF1):c.959A>G (p.Lys320Arg) rs148536538 0.00011
NM_022124.6(CDH23):c.1621G>A (p.Glu541Lys) rs562019725 0.00011
NM_022124.6(CDH23):c.7394G>A (p.Arg2465Gln) rs199903227 0.00011
NM_025137.4(SPG11):c.328A>G (p.Asn110Asp) rs139498464 0.00011
NM_025137.4(SPG11):c.3558C>G (p.Asp1186Glu) rs201902382 0.00011
NM_025137.4(SPG11):c.4365G>C (p.Trp1455Cys) rs138103656 0.00011
NM_032119.4(ADGRV1):c.13496G>A (p.Arg4499His) rs375122809 0.00011
NM_032737.4(LMNB2):c.1063G>A (p.Ala355Thr) rs143717863 0.00011
NM_033337.3(CAV3):c.125A>C (p.Glu42Ala) rs137901165 0.00011
NM_173354.5(SIK1):c.1088G>A (p.Arg363Gln) rs528905001 0.00011
NM_182914.3(SYNE2):c.15031A>G (p.Ile5011Val) rs201269146 0.00011
NM_182914.3(SYNE2):c.7301G>A (p.Arg2434Gln) rs202200597 0.00011
NM_182961.4(SYNE1):c.10784A>G (p.Asn3595Ser) rs148212715 0.00011
NM_182961.4(SYNE1):c.14991G>T (p.Arg4997Ser) rs201306174 0.00011
NM_182961.4(SYNE1):c.18999G>C (p.Leu6333Phe) rs141934037 0.00011
NM_182961.4(SYNE1):c.19972A>G (p.Lys6658Glu) rs376891338 0.00011
NM_182961.4(SYNE1):c.20737C>T (p.Arg6913Cys) rs142593312 0.00011
NM_182961.4(SYNE1):c.22303C>T (p.Arg7435Cys) rs371642308 0.00011
NM_182961.4(SYNE1):c.8839C>G (p.Leu2947Val) rs756300560 0.00011
NM_198904.4(GABRG2):c.1207A>G (p.Thr403Ala) rs757868774 0.00011
NM_201384.3(PLEC):c.12647G>A (p.Arg4216His) rs151106439 0.00011
NM_201384.3(PLEC):c.13450G>A (p.Gly4484Ser) rs782650176 0.00011
NM_201384.3(PLEC):c.13471A>G (p.Thr4491Ala) rs782756146 0.00011
NM_201384.3(PLEC):c.6841G>A (p.Ala2281Thr) rs200618217 0.00011
NM_000051.4(ATM):c.7494T>C (p.Ser2498=) rs34393781 0.00010
NM_000098.3(CPT2):c.1436A>T (p.Tyr479Phe) rs749895856 0.00010
NM_000232.5(SGCB):c.785T>C (p.Met262Thr) rs201923065 0.00010
NM_000297.4(PKD2):c.733A>C (p.Asn245His) rs200543024 0.00010
NM_001146262.4(SYT14):c.61+13201G>A rs914659249 0.00010
NM_001166114.2(PNPLA6):c.1357G>A (p.Ala453Thr) rs761591000 0.00010
NM_001267550.2(TTN):c.3469G>A (p.Val1157Ile) rs397517566 0.00010
NM_001267550.2(TTN):c.4150G>T (p.Ala1384Ser) rs144609506 0.00010
NM_001267550.2(TTN):c.4228G>C (p.Val1410Leu) rs576593161 0.00010
NM_001267550.2(TTN):c.65672C>T (p.Pro21891Leu) rs397517662 0.00010
NM_001267550.2(TTN):c.75914C>T (p.Pro25305Leu) rs142453163 0.00010
NM_001278064.2(GRM1):c.3328G>A (p.Val1110Met) rs373321710 0.00010
NM_001378452.1(ITPR1):c.7583C>T (p.Thr2528Met) rs373614009 0.00010
NM_002087.3(GRN):c.-203G>C rs555738837 0.00010
NM_004526.4(MCM2):c.116C>T (p.Thr39Ile) rs745488384 0.00010
NM_004782.4(SNAP29):c.193G>C (p.Ala65Pro) rs760243787 0.00010
NM_005529.7(HSPG2):c.1844G>A (p.Arg615His) rs189089389 0.00010
NM_005908.4(MANBA):c.1025A>G (p.Tyr342Cys) rs771658981 0.00010
NM_013382.7(POMT2):c.1363C>T (p.Arg455Trp) rs398124261 0.00010
NM_014053.4(FLVCR1):c.554G>C (p.Cys185Ser) rs747064078 0.00010
NM_014141.6(CNTNAP2):c.755-5C>T rs369675346 0.00010
NM_017739.4(POMGNT1):c.355G>A (p.Val119Met) rs148498470 0.00010
NM_018109.4(MTPAP):c.511C>T (p.Arg171Cys) rs759094245 0.00010
NM_018319.4(TDP1):c.19T>C (p.Tyr7His) rs754747710 0.00010
NM_018319.4(TDP1):c.904T>C (p.Tyr302His) rs375817400 0.00010
NM_018941.4(CLN8):c.53A>T (p.Tyr18Phe) rs142104002 0.00010
NM_021072.4(HCN1):c.2390T>G (p.Val797Gly) rs150936707 0.00010
NM_021098.3(CACNA1H):c.1309C>T (p.Arg437Trp) rs377061296 0.00010
NM_021098.3(CACNA1H):c.1610G>A (p.Arg537His) rs548407874 0.00010
NM_024301.5(FKRP):c.731G>A (p.Arg244His) rs764641619 0.00010
NM_024577.4(SH3TC2):c.1106G>A (p.Arg369His) rs551803988 0.00010
NM_024596.5(MCPH1):c.2335G>A (p.Val779Ile) rs751832733 0.00010
NM_024884.3(L2HGDH):c.906G>A (p.Pro302=) rs144701373 0.00010
NM_033305.3(VPS13A):c.1150G>A (p.Val384Met) rs139444683 0.00010
NM_080680.3(COL11A2):c.4898G>A (p.Gly1633Asp) rs143920565 0.00010
NM_133642.5(LARGE1):c.334G>A (p.Glu112Lys) rs146078928 0.00010
NM_152743.4(BRAT1):c.1451C>G (p.Thr484Ser) rs200248064 0.00010
NM_170707.4(LMNA):c.1202G>A (p.Arg401His) rs141490569 0.00010
NM_173477.5(USH1G):c.65G>A (p.Arg22Gln) rs147705262 0.00010
NM_182914.3(SYNE2):c.9745-9A>G rs778028287 0.00010
NM_182961.4(SYNE1):c.10217A>C (p.Asp3406Ala) rs546645393 0.00010
NM_182961.4(SYNE1):c.22915G>A (p.Ala7639Thr) rs376169744 0.00010
NM_182961.4(SYNE1):c.25C>T (p.Arg9Trp) rs200346529 0.00010
NM_182961.4(SYNE1):c.8686C>T (p.Arg2896Cys) rs750573381 0.00010
NM_201384.3(PLEC):c.11020C>T (p.Arg3674Cys) rs557562267 0.00010
NM_201384.3(PLEC):c.12863C>T (p.Thr4288Met) rs782574559 0.00010
NM_201384.3(PLEC):c.2416C>T (p.Arg806Cys) rs372400636 0.00010
NM_201384.3(PLEC):c.6842C>T (p.Ala2281Val) rs371130595 0.00010
NM_201525.4(ADGRG1):c.1371C>T (p.Ser457=) rs747812668 0.00010
NM_201525.4(ADGRG1):c.26C>T (p.Thr9Met) rs200241873 0.00010
NM_213599.3(ANO5):c.994A>G (p.Met332Val) rs200553437 0.00010
NM_000051.4(ATM):c.670A>G (p.Lys224Glu) rs145053092 0.00009
NM_000051.4(ATM):c.6820G>A (p.Ala2274Thr) rs567060474 0.00009
NM_000083.3(CLCN1):c.1205C>T (p.Ala402Val) rs202119213 0.00009
NM_000266.4(NDP):c.*3C>A rs372300274 0.00009
NM_000334.4(SCN4A):c.4282A>G (p.Ile1428Val) rs368822028 0.00009
NM_000426.4(LAMA2):c.4436+8T>C rs192650285 0.00009
NM_000435.3(NOTCH3):c.3421G>A (p.Val1141Met) rs373181668 0.00009
NM_000545.8(HNF1A):c.1721G>A (p.Ser574Asn) rs773895173 0.00009
NM_000702.4(ATP1A2):c.1582G>A (p.Asp528Asn) rs374501280 0.00009
NM_000744.7(CHRNA4):c.1316A>C (p.Lys439Thr) rs796052318 0.00009
NM_001009944.3(PKD1):c.12051G>C (p.Lys4017Asn) rs151044657 0.00009
NM_001009944.3(PKD1):c.8611G>A (p.Ala2871Thr) rs556305338 0.00009
NM_001110556.2(FLNA):c.7450C>T (p.Arg2484Cys) rs782557713 0.00009
NM_001127222.2(CACNA1A):c.1225A>C (p.Thr409Pro) rs187259531 0.00009
NM_001127222.2(CACNA1A):c.2104+6C>T rs372970603 0.00009
NM_001127222.2(CACNA1A):c.6044G>A (p.Gly2015Glu) rs772988279 0.00009
NM_001130438.3(SPTAN1):c.1689G>T (p.Met563Ile) rs373973880 0.00009
NM_001130987.2(DYSF):c.4904A>G (p.Asn1635Ser) rs772664716 0.00009
NM_001130987.2(DYSF):c.6100A>C (p.Ser2034Arg) rs201890095 0.00009
NM_001199107.2(TBC1D24):c.1642G>A (p.Val548Met) rs201649140 0.00009
NM_001244008.2(KIF1A):c.5332C>T (p.Arg1778Trp) rs765668490 0.00009
NM_001267550.2(TTN):c.16934C>T (p.Pro5645Leu) rs370889765 0.00009
NM_001267550.2(TTN):c.17806A>G (p.Ile5936Val) rs72648945 0.00009
NM_001267550.2(TTN):c.41596G>A (p.Val13866Ile) rs375474669 0.00009
NM_001267550.2(TTN):c.49363A>G (p.Thr16455Ala) rs374543277 0.00009
NM_001267550.2(TTN):c.51896C>T (p.Pro17299Leu) rs369648778 0.00009
NM_001267550.2(TTN):c.54053A>T (p.Lys18018Met) rs368425364 0.00009
NM_001267550.2(TTN):c.54068G>A (p.Arg18023Gln) rs727503603 0.00009
NM_001267550.2(TTN):c.57544+7dup rs750881309 0.00009
NM_001267550.2(TTN):c.60146G>A (p.Arg20049His) rs200455644 0.00009
NM_001267550.2(TTN):c.66086G>A (p.Arg22029His) rs72646868 0.00009
NM_001267550.2(TTN):c.72674C>T (p.Pro24225Leu) rs55992239 0.00009
NM_001267550.2(TTN):c.79334G>A (p.Arg26445His) rs764254441 0.00009
NM_001267550.2(TTN):c.84466G>C (p.Gly28156Arg) rs763560084 0.00009
NM_001267550.2(TTN):c.87280G>A (p.Glu29094Lys) rs199501185 0.00009
NM_001267550.2(TTN):c.89947G>A (p.Val29983Met) rs397517746 0.00009
NM_001267550.2(TTN):c.93860T>C (p.Phe31287Ser) rs374887049 0.00009
NM_001278064.2(GRM1):c.1643C>T (p.Thr548Met) rs201399008 0.00009
NM_001278064.2(GRM1):c.1982G>A (p.Arg661His) rs200495057 0.00009
NM_001286445.3(RIPOR2):c.323G>C (p.Arg108Thr) rs201842232 0.00009
NM_001370298.3(FGD4):c.1508T>C (p.Leu503Ser) rs555510533 0.00009
NM_001378609.3(OTOGL):c.2791G>A (p.Val931Ile) rs368000272 0.00009
NM_001458.5(FLNC):c.643G>A (p.Val215Met) rs754309921 0.00009
NM_002055.5(GFAP):c.265T>C (p.Phe89Leu) rs773482099 0.00009
NM_002296.4(LBR):c.837+5G>A rs755762718 0.00009
NM_002693.3(POLG):c.1842C>T (p.Tyr614=) rs62640033 0.00009
NM_002693.3(POLG):c.460G>A (p.Ala154Thr) rs753858440 0.00009
NM_002906.4(RDX):c.602A>G (p.Tyr201Cys) rs146019940 0.00009
NM_003482.4(KMT2D):c.8006T>G (p.Met2669Arg) rs372520829 0.00009
NM_003673.4(TCAP):c.388C>T (p.Arg130Cys) rs374886575 0.00009
NM_004393.6(DAG1):c.1307C>T (p.Thr436Met) rs143573515 0.00009
NM_004820.5(CYP7B1):c.757A>G (p.Lys253Glu) rs200328073 0.00009
NM_005045.4(RELN):c.4720G>A (p.Ala1574Thr) rs78480723 0.00009
NM_005529.7(HSPG2):c.7198G>A (p.Ala2400Thr) rs148674648 0.00009
NM_005591.4(MRE11):c.818C>G (p.Ser273Cys) rs143400546 0.00009
NM_005670.4(EPM2A):c.919G>A (p.Glu307Lys) rs754779408 0.00009
NM_006883.2(SHOX):c.634-1G>C rs1308380568 0.00009
NM_012210.4(TRIM32):c.979A>G (p.Met327Val) rs373287765 0.00009
NM_013275.6(ANKRD11):c.2213G>A (p.Arg738His) rs370690185 0.00009
NM_014053.4(FLVCR1):c.1642del (p.Ser548fs) rs766024598 0.00009
NM_014363.6(SACS):c.12260A>G (p.Tyr4087Cys) rs373478772 0.00009
NM_014363.6(SACS):c.1463C>T (p.Pro488Leu) rs375875022 0.00009
NM_014363.6(SACS):c.2996T>C (p.Ile999Thr) rs371869943 0.00009
NM_014363.6(SACS):c.5744A>G (p.His1915Arg) rs144822691 0.00009
NM_014855.3(AP5Z1):c.259G>A (p.Ala87Thr) rs775883752 0.00009
NM_015046.7(SETX):c.2750T>C (p.Met917Thr) rs376022544 0.00009
NM_015046.7(SETX):c.5852A>G (p.His1951Arg) rs146593865 0.00009
NM_018100.4(EFHC1):c.574G>A (p.Val192Ile) rs781665913 0.00009
NM_018109.4(MTPAP):c.1325A>G (p.Lys442Arg) rs201004319 0.00009
NM_018109.4(MTPAP):c.346G>A (p.Val116Ile) rs560622337 0.00009
NM_018136.5(ASPM):c.6275A>T (p.Asn2092Ile) rs144574871 0.00009
NM_018319.4(TDP1):c.1249A>G (p.Lys417Glu) rs138135786 0.00009
NM_018319.4(TDP1):c.1543G>A (p.Ala515Thr) rs200769126 0.00009
NM_018319.4(TDP1):c.15C>T (p.Gly5=) rs779666160 0.00009
NM_018319.4(TDP1):c.370G>A (p.Ala124Thr) rs200906712 0.00009
NM_021072.4(HCN1):c.2008G>A (p.Ala670Thr) rs373454105 0.00009
NM_021098.3(CACNA1H):c.5081T>C (p.Met1694Thr) rs375015931 0.00009
NM_021098.3(CACNA1H):c.6023G>T (p.Ser2008Ile) rs750277154 0.00009
NM_022464.5(SIL1):c.142A>C (p.Thr48Pro) rs185697854 0.00009
NM_024577.4(SH3TC2):c.3166C>T (p.Leu1056Phe) rs201805333 0.00009
NM_025137.4(SPG11):c.6950G>A (p.Gly2317Asp) rs79186522 0.00009
NM_032119.4(ADGRV1):c.12128T>C (p.Ile4043Thr) rs375632680 0.00009
NM_032119.4(ADGRV1):c.14373T>A (p.Ala4791=) rs375062187 0.00009
NM_032737.4(LMNB2):c.1553C>T (p.Thr518Met) rs368745985 0.00009
NM_152743.4(BRAT1):c.2329A>G (p.Arg777Gly) rs773571503 0.00009
NM_182914.3(SYNE2):c.20590C>T (p.Leu6864Phe) rs201554266 0.00009
NM_182914.3(SYNE2):c.6664C>G (p.Pro2222Ala) rs201838350 0.00009
NM_182961.4(SYNE1):c.11867T>C (p.Leu3956Pro) rs150913316 0.00009
NM_182961.4(SYNE1):c.13949G>A (p.Arg4650Gln) rs763557674 0.00009
NM_182961.4(SYNE1):c.14018G>A (p.Arg4673Gln) rs144963785 0.00009
NM_182961.4(SYNE1):c.15259C>T (p.Arg5087Trp) rs767636254 0.00009
NM_182961.4(SYNE1):c.15413C>T (p.Ala5138Val) rs143916942 0.00009
NM_182961.4(SYNE1):c.16211C>T (p.Ala5404Val) rs140850000 0.00009
NM_182961.4(SYNE1):c.1708T>C (p.Tyr570His) rs199962439 0.00009
NM_182961.4(SYNE1):c.20159A>C (p.Glu6720Ala) rs367790193 0.00009
NM_182961.4(SYNE1):c.20182C>T (p.Arg6728Cys) rs150063353 0.00009
NM_182961.4(SYNE1):c.21952G>A (p.Ala7318Thr) rs145494541 0.00009
NM_182961.4(SYNE1):c.26272C>G (p.Leu8758Val) rs139740651 0.00009
NM_182961.4(SYNE1):c.4544C>T (p.Thr1515Ile) rs148785548 0.00009
NM_182961.4(SYNE1):c.9262G>A (p.Ala3088Thr) rs398123005 0.00009
NM_198994.3(TGM6):c.986T>C (p.Met329Thr) rs111506138 0.00009
NM_201384.3(PLEC):c.10157C>T (p.Ala3386Val) rs532234200 0.00009
NM_201384.3(PLEC):c.10897C>T (p.Arg3633Cys) rs200653006 0.00009
NM_201384.3(PLEC):c.10933C>T (p.Arg3645Cys) rs782194334 0.00009
NM_201384.3(PLEC):c.113-6C>T rs782235036 0.00009
NM_201384.3(PLEC):c.3863C>T (p.Thr1288Met) rs372055596 0.00009
NM_201384.3(PLEC):c.5248C>T (p.Arg1750Trp) rs782410213 0.00009
NM_201384.3(PLEC):c.6464C>T (p.Ala2155Val) rs201922111 0.00009
NM_201384.3(PLEC):c.8545G>A (p.Asp2849Asn) rs200360391 0.00009
NM_201384.3(PLEC):c.9167C>A (p.Ala3056Asp) rs373831849 0.00009
NM_000166.6(GJB1):c.-101C>T rs961829342 0.00008
NM_000231.3(SGCG):c.455C>T (p.Thr152Ile) rs201329880 0.00008
NM_000334.4(SCN4A):c.4386C>G (p.Ile1462Met) rs763827415 0.00008
NM_000352.6(ABCC8):c.3413C>T (p.Thr1138Met) rs201351976 0.00008
NM_000352.6(ABCC8):c.375C>G (p.His125Gln) rs60637558 0.00008
NM_000497.4(CYP11B1):c.538G>A (p.Ala180Thr) rs140123041 0.00008
NM_000540.3(RYR1):c.4747C>T (p.Arg1583Cys) rs754476250 0.00008
NM_001009944.3(PKD1):c.12089C>T (p.Thr4030Ile) rs751776839 0.00008
NM_001009944.3(PKD1):c.7289G>A (p.Arg2430Gln) rs62038819 0.00008
NM_001130987.2(DYSF):c.2159C>T (p.Thr720Met) rs775539496 0.00008
NM_001130987.2(DYSF):c.565G>A (p.Glu189Lys) rs151054827 0.00008
NM_001244008.2(KIF1A):c.3599C>T (p.Ser1200Leu) rs763750448 0.00008
NM_001267550.2(TTN):c.33650C>T (p.Ala11217Val) rs750612476 0.00008
NM_001267550.2(TTN):c.39709+9G>C rs765647346 0.00008
NM_001267550.2(TTN):c.59365G>A (p.Asp19789Asn) rs1352997069 0.00008
NM_001267550.2(TTN):c.68097G>C (p.Gln22699His) rs727504520 0.00008
NM_001267550.2(TTN):c.98431C>T (p.Arg32811Cys) rs371807358 0.00008
NM_001458.5(FLNC):c.6817G>A (p.Ala2273Thr) rs372251350 0.00008
NM_001845.6(COL4A1):c.2447C>T (p.Pro816Leu) rs781249721 0.00008
NM_001927.4(DES):c.216C>A (p.Ser72Arg) rs375719734 0.00008
NM_002087.3(GRN):c.-100A>G rs956983853 0.00008
NM_002241.5(KCNJ10):c.1123C>T (p.Arg375Cys) rs751338154 0.00008
NM_002473.6(MYH9):c.5338C>T (p.Arg1780Trp) rs527571090 0.00008
NM_002693.3(POLG):c.2642C>T (p.Pro881Leu) rs375935084 0.00008
NM_002693.3(POLG):c.719C>T (p.Ser240Leu) rs369175235 0.00008
NM_005422.4(TECTA):c.790+6G>A rs375946958 0.00008
NM_005529.7(HSPG2):c.10079C>T (p.Ser3360Leu) rs778225565 0.00008
NM_005529.7(HSPG2):c.1507+9G>A rs371371189 0.00008
NM_005529.7(HSPG2):c.2987G>A (p.Arg996His) rs373895855 0.00008
NM_005529.7(HSPG2):c.3551G>A (p.Gly1184Asp) rs138804377 0.00008
NM_005529.7(HSPG2):c.6205G>A (p.Asp2069Asn) rs751734807 0.00008
NM_005529.7(HSPG2):c.9902C>T (p.Ala3301Val) rs140197256 0.00008
NM_012210.4(TRIM32):c.1012G>A (p.Ala338Thr) rs141806013 0.00008
NM_013382.7(POMT2):c.1141T>C (p.Tyr381His) rs369489033 0.00008
NM_014874.4(MFN2):c.160G>A (p.Ala54Thr) rs61733203 0.00008
NM_015046.7(SETX):c.1374T>G (p.Phe458Leu) rs201441886 0.00008
NM_015046.7(SETX):c.7979A>G (p.Asp2660Gly) rs567672087 0.00008
NM_015340.4(LARS2):c.1358G>A (p.Arg453Gln) rs572177274 0.00008
NM_018075.5(ANO10):c.397G>A (p.Glu133Lys) rs571983239 0.00008
NM_020247.5(COQ8A):c.11T>A (p.Ile4Lys) rs202075418 0.00008
NM_020247.5(COQ8A):c.794G>A (p.Arg265His) rs199696414 0.00008
NM_022464.5(SIL1):c.1022C>T (p.Thr341Met) rs372399027 0.00008
NM_024596.5(MCPH1):c.2395C>T (p.Pro799Ser) rs369127299 0.00008
NM_032119.4(ADGRV1):c.15113T>C (p.Ile5038Thr) rs192561791 0.00008
NM_153026.3(PRICKLE1):c.1145G>A (p.Arg382Lys) rs748636455 0.00008
NM_170707.4(LMNA):c.1862C>T (p.Thr621Met) rs765594825 0.00008
NM_181882.3(PRX):c.4017C>A (p.Ser1339Arg) rs758057597 0.00008
NM_182914.3(SYNE2):c.1218G>A (p.Met406Ile) rs768665395 0.00008
NM_182914.3(SYNE2):c.12437A>G (p.His4146Arg) rs375035375 0.00008
NM_182914.3(SYNE2):c.3889A>G (p.Met1297Val) rs368642506 0.00008
NM_182961.4(SYNE1):c.10312G>A (p.Glu3438Lys) rs550171329 0.00008
NM_182961.4(SYNE1):c.16552C>T (p.Arg5518Trp) rs377410590 0.00008
NM_182961.4(SYNE1):c.18345G>C (p.Glu6115Asp) rs749005373 0.00008
NM_182961.4(SYNE1):c.24635G>A (p.Arg8212His) rs766462111 0.00008
NM_182961.4(SYNE1):c.2528G>A (p.Arg843His) rs191723029 0.00008
NM_182961.4(SYNE1):c.25922G>A (p.Arg8641Gln) rs774776856 0.00008
NM_182961.4(SYNE1):c.9719T>C (p.Leu3240Pro) rs56308121 0.00008
NM_198578.4(LRRK2):c.2771G>A (p.Arg924His) rs200795874 0.00008
NM_201384.3(PLEC):c.9749C>T (p.Thr3250Met) rs201349099 0.00008
NM_000051.4(ATM):c.2149C>T (p.Arg717Trp) rs147515380 0.00007
NM_000051.4(ATM):c.290T>C (p.Ile97Thr) rs786203011 0.00007
NM_000142.5(FGFR3):c.1879G>A (p.Glu627Lys) rs200849753 0.00007
NM_000170.3(GLDC):c.578A>G (p.Asn193Ser) rs555919940 0.00007
NM_000334.4(SCN4A):c.1139G>A (p.Arg380Gln) rs374446143 0.00007
NM_000370.3(TTPA):c.265C>T (p.Pro89Ser) rs374272548 0.00007
NM_000388.4(CASR):c.848T>C (p.Ile283Thr) rs142745096 0.00007
NM_000435.3(NOTCH3):c.1505C>T (p.Ser502Phe) rs778571943 0.00007
NM_000435.3(NOTCH3):c.269G>A (p.Arg90His) rs754726425 0.00007
NM_001008212.2(OPTN):c.941A>T (p.Gln314Leu) rs142812715 0.00007
NM_001079802.2(FKTN):c.1212T>G (p.Phe404Leu) rs776724595 0.00007
NM_001130987.2(DYSF):c.1618T>C (p.Tyr540His) rs777489323 0.00007
NM_001130987.2(DYSF):c.4359G>A (p.Ala1453=) rs371816429 0.00007
NM_001195263.2(PDZD7):c.1940C>T (p.Pro647Leu) rs1013083731 0.00007
NM_001242896.3(DEPDC5):c.130C>G (p.Pro44Ala) rs756878843 0.00007
NM_001267550.2(TTN):c.53807G>A (p.Arg17936His) rs727503604 0.00007
NM_001267550.2(TTN):c.72226T>G (p.Leu24076Val) rs202098308 0.00007
NM_001267550.2(TTN):c.86623G>A (p.Ala28875Thr) rs762472705 0.00007
NM_002641.4(PIGA):c.61A>G (p.Ser21Gly) rs375401655 0.00007
NM_002693.3(POLG):c.2051A>G (p.Asn684Ser) rs202244328 0.00007
NM_003068.5(SNAI2):c.341A>C (p.Gln114Pro) rs200288712 0.00007
NM_004006.3(DMD):c.9580A>C (p.Ile3194Leu) rs181517869 0.00007
NM_004977.3(KCNC3):c.1706C>T (p.Pro569Leu) rs558106649 0.00007
NM_005529.7(HSPG2):c.1855C>T (p.Arg619Cys) rs754060584 0.00007
NM_005529.7(HSPG2):c.3148G>A (p.Gly1050Ser) rs779672692 0.00007
NM_005591.4(MRE11):c.482A>G (p.Lys161Arg) rs587782294 0.00007
NM_006946.4(SPTBN2):c.1504A>G (p.Ile502Val) rs751351000 0.00007
NM_006946.4(SPTBN2):c.2209G>A (p.Glu737Lys) rs766618779 0.00007
NM_006946.4(SPTBN2):c.2816+5G>A rs369265033 0.00007
NM_006946.4(SPTBN2):c.7051C>T (p.Arg2351Trp) rs753896989 0.00007
NM_014363.6(SACS):c.11066C>A (p.Pro3689Gln) rs148925505 0.00007
NM_014363.6(SACS):c.6178G>C (p.Val2060Leu) rs373226693 0.00007
NM_014363.6(SACS):c.6266C>T (p.Ser2089Leu) rs370095300 0.00007
NM_014846.4(WASHC5):c.1522-10T>A rs200283018 0.00007
NM_015046.7(SETX):c.3023C>G (p.Thr1008Ser) rs372021275 0.00007
NM_016156.6(MTMR2):c.894A>T (p.Glu298Asp) rs200898934 0.00007
NM_020247.5(COQ8A):c.1612C>T (p.Arg538Trp) rs201331131 0.00007
NM_021625.5(TRPV4):c.143C>T (p.Ser48Leu) rs756185743 0.00007
NM_021942.6(TRAPPC11):c.3211G>A (p.Gly1071Ser) rs141588557 0.00007
NM_022124.6(CDH23):c.2953G>C (p.Val985Leu) rs374964318 0.00007
NM_022124.6(CDH23):c.310G>A (p.Glu104Lys) rs772284876 0.00007
NM_024577.4(SH3TC2):c.517C>A (p.Leu173Met) rs147633804 0.00007
NM_030962.4(SBF2):c.4257+6C>G rs370274486 0.00007
NM_152743.4(BRAT1):c.1484C>T (p.Pro495Leu) rs577945739 0.00007
NM_170707.4(LMNA):c.1243G>A (p.Val415Ile) rs267607606 0.00007
NM_182914.3(SYNE2):c.10457A>G (p.Asp3486Gly) rs768214736 0.00007
NM_182961.4(SYNE1):c.26330C>G (p.Ser8777Cys) rs377446250 0.00007
NM_182961.4(SYNE1):c.6254T>C (p.Ile2085Thr) rs577979265 0.00007
NM_182961.4(SYNE1):c.952G>A (p.Val318Ile) rs373619878 0.00007
NM_198576.4(AGRN):c.4138C>T (p.Arg1380Cys) rs747790893 0.00007
NM_198994.3(TGM6):c.2059G>C (p.Val687Leu) rs374655115 0.00007
NM_201384.3(PLEC):c.4075C>T (p.Arg1359Cys) rs541323979 0.00007
NM_213599.3(ANO5):c.570A>G (p.Gln190=) rs144159801 0.00007
NM_000051.4(ATM):c.2275A>G (p.Ser759Gly) rs148705269 0.00006
NM_000051.4(ATM):c.4792C>A (p.Leu1598Ile) rs375190373 0.00006
NM_000051.4(ATM):c.610G>A (p.Gly204Arg) rs147915571 0.00006
NM_000051.4(ATM):c.8495G>A (p.Arg2832His) rs529296539 0.00006
NM_000069.3(CACNA1S):c.1385G>A (p.Arg462His) rs146696298 0.00006
NM_000088.4(COL1A1):c.649A>T (p.Met217Leu) rs763409550 0.00006
NM_000091.5(COL4A3):c.4649T>G (p.Val1550Gly) rs200655479 0.00006
NM_000092.5(COL4A4):c.2170C>T (p.Arg724Cys) rs754398956 0.00006
NM_000100.4(CSTB):c.29A>C (p.Gln10Pro) rs569851503 0.00006
NM_000110.4(DPYD):c.1180C>T (p.Arg394Trp) rs140602333 0.00006
NM_000110.4(DPYD):c.1990G>T (p.Ala664Ser) rs138545885 0.00006
NM_000156.6(GAMT):c.670G>A (p.Ala224Thr) rs141471799 0.00006
NM_000334.4(SCN4A):c.365G>A (p.Arg122His) rs374529559 0.00006
NM_000335.5(SCN5A):c.3343C>T (p.Arg1115Trp) rs199473196 0.00006
NM_000335.5(SCN5A):c.393-5C>A rs368678204 0.00006
NM_000338.3(SLC12A1):c.262G>A (p.Ala88Thr) rs369639692 0.00006
NM_000352.6(ABCC8):c.4733G>A (p.Arg1578His) rs143557848 0.00006
NM_000352.6(ABCC8):c.647G>A (p.Arg216His) rs199702708 0.00006
NM_000370.3(TTPA):c.355A>G (p.Ile119Val) rs766200402 0.00006
NM_000370.3(TTPA):c.75G>C (p.Gln25His) rs751638180 0.00006
NM_000426.4(LAMA2):c.479A>T (p.Asp160Val) rs147398243 0.00006
NM_000435.3(NOTCH3):c.1416G>T (p.Glu472Asp) rs1416152273 0.00006
NM_000435.3(NOTCH3):c.5010G>A (p.Glu1670=) rs937296497 0.00006
NM_000435.3(NOTCH3):c.5467G>A (p.Asp1823Asn) rs763602970 0.00006
NM_000435.3(NOTCH3):c.6164C>T (p.Ala2055Val) rs769066713 0.00006
NM_000435.3(NOTCH3):c.754G>A (p.Val252Met) rs115836330 0.00006
NM_000484.4(APP):c.2137G>A (p.Ala713Thr) rs63750066 0.00006
NM_000497.4(CYP11B1):c.799+5G>C rs193922542 0.00006
NM_000540.3(RYR1):c.14203C>T (p.Arg4735Trp) rs766887342 0.00006
NM_000540.3(RYR1):c.3619G>A (p.Val1207Met) rs760235443 0.00006
NM_000545.8(HNF1A):c.1405C>T (p.His469Tyr) rs201811844 0.00006
NM_000744.7(CHRNA4):c.461C>T (p.Pro154Leu) rs121912244 0.00006
NM_001005361.3(DNM2):c.535A>G (p.Met179Val) rs748887276 0.00006
NM_001009944.3(PKD1):c.10429C>A (p.Leu3477Ile) rs62621452 0.00006
NM_001009944.3(PKD1):c.2416G>A (p.Val806Met) rs1219493715 0.00006
NM_001009944.3(PKD1):c.4916G>C (p.Gly1639Ala) rs1178172751 0.00006
NM_001009944.3(PKD1):c.8186C>T (p.Ser2729Leu) rs371541730 0.00006
NM_001009944.3(PKD1):c.8428G>A (p.Glu2810Lys) rs777608163 0.00006
NM_001042492.3(NF1):c.4526G>A (p.Arg1509His) rs546073780 0.00006
NM_001077365.2(POMT1):c.847A>C (p.Ser283Arg) rs747506380 0.00006
NM_001127222.2(CACNA1A):c.2501A>C (p.Asn834Thr) rs201666606 0.00006
NM_001127222.2(CACNA1A):c.2812G>C (p.Gly938Arg) rs771423362 0.00006
NM_001127222.2(CACNA1A):c.3649A>G (p.Met1217Val) rs372017604 0.00006
NM_001127222.2(CACNA1A):c.5740G>A (p.Asp1914Asn) rs371957992 0.00006
NM_001127222.2(CACNA1A):c.6190-3C>A rs368480650 0.00006
NM_001127222.2(CACNA1A):c.6266G>A (p.Arg2089Gln) rs1033214914 0.00006
NM_001127222.2(CACNA1A):c.6400C>T (p.Arg2134Cys) rs121908235 0.00006
NM_001130987.2(DYSF):c.1774G>T (p.Asp592Tyr) rs376932915 0.00006
NM_001166114.2(PNPLA6):c.1228G>A (p.Val410Ile) rs369465821 0.00006
NM_001195248.2(APTX):c.191A>G (p.Asn64Ser) rs142032370 0.00006
NM_001242896.3(DEPDC5):c.3085A>G (p.Thr1029Ala) rs537257402 0.00006
NM_001244008.2(KIF1A):c.4955G>A (p.Arg1652Gln) rs376658420 0.00006
NM_001256545.2(MEGF10):c.2347C>T (p.Arg783Trp) rs754251946 0.00006
NM_001267550.2(TTN):c.104125C>T (p.Arg34709Cys) rs530959653 0.00006
NM_001267550.2(TTN):c.104222C>T (p.Thr34741Ile) rs727505306 0.00006
NM_001267550.2(TTN):c.12821G>A (p.Ser4274Asn) rs200348414 0.00006
NM_001267550.2(TTN):c.14999G>A (p.Arg5000His) rs377062348 0.00006
NM_001267550.2(TTN):c.49801G>T (p.Val16601Leu) rs773271774 0.00006
NM_001267550.2(TTN):c.49937G>A (p.Arg16646Gln) rs746384579 0.00006
NM_001267550.2(TTN):c.52139A>T (p.Asp17380Val) rs373305248 0.00006
NM_001267550.2(TTN):c.60343G>A (p.Asp20115Asn) rs369893671 0.00006
NM_001267550.2(TTN):c.61696G>A (p.Val20566Ile) rs764777213 0.00006
NM_001267550.2(TTN):c.6608T>C (p.Val2203Ala) rs746433556 0.00006
NM_001267550.2(TTN):c.70975G>A (p.Gly23659Ser) rs376256345 0.00006
NM_001267550.2(TTN):c.7328A>G (p.Tyr2443Cys) rs369407160 0.00006
NM_001267550.2(TTN):c.80720C>A (p.Pro26907Gln) rs375693686 0.00006
NM_001267550.2(TTN):c.85115G>A (p.Gly28372Glu) rs190721759 0.00006
NM_001267550.2(TTN):c.85316G>A (p.Arg28439Gln) rs764437671 0.00006
NM_001267550.2(TTN):c.91325A>C (p.Lys30442Thr) rs370086155 0.00006
NM_001267550.2(TTN):c.947C>A (p.Ser316Tyr) rs1357433834 0.00006
NM_001278064.2(GRM1):c.827A>C (p.Lys276Thr) rs192397712 0.00006
NM_001330078.2(NRXN1):c.1688T>C (p.Ile563Thr) rs201837579 0.00006
NM_001347702.2(SYNE1):c.1480C>T (p.Leu494Phe) rs200854314 0.00006
NM_001347721.2(DYRK1A):c.1762G>A (p.Ala588Thr) rs200808105 0.00006
NM_001365999.1(SZT2):c.8216C>T (p.Pro2739Leu) rs774032264 0.00006
NM_001378452.1(ITPR1):c.2188G>A (p.Val730Ile) rs370701686 0.00006
NM_001378452.1(ITPR1):c.7630G>A (p.Val2544Ile) rs371726673 0.00006
NM_001384140.1(PCDH15):c.3807-6T>G rs727504791 0.00006
NM_002047.4(GARS1):c.1852G>A (p.Val618Ile) rs369894731 0.00006
NM_002292.4(LAMB2):c.2983A>G (p.Met995Val) rs773681564 0.00006
NM_002693.3(POLG):c.1097G>C (p.Gly366Ala) rs757315161 0.00006
NM_002693.3(POLG):c.154C>A (p.Gln52Lys) rs376683989 0.00006
NM_002693.3(POLG):c.1591G>A (p.Gly531Ser) rs796052904 0.00006
NM_002693.3(POLG):c.2218A>G (p.Asn740Asp) rs78347903 0.00006
NM_002693.3(POLG):c.3216C>G (p.Thr1072=) rs146936870 0.00006
NM_002693.3(POLG):c.3701G>A (p.Arg1234Gln) rs750792237 0.00006
NM_003900.5(SQSTM1):c.625C>T (p.Arg209Cys) rs1478180381 0.00006
NM_003907.3(EIF2B5):c.37G>A (p.Val13Ile) rs577738220 0.00006
NM_004004.6(GJB2):c.493C>T (p.Arg165Trp) rs376898963 0.00006
NM_005529.7(HSPG2):c.2896G>A (p.Glu966Lys) rs142651007 0.00006
NM_005529.7(HSPG2):c.4391G>A (p.Arg1464Gln) rs757410321 0.00006
NM_005529.7(HSPG2):c.8270A>G (p.Gln2757Arg) rs375390882 0.00006
NM_005591.4(MRE11):c.274G>A (p.Glu92Lys) rs587780139 0.00006
NM_005591.4(MRE11):c.391G>A (p.Asp131Asn) rs368403414 0.00006
NM_005619.5(RTN2):c.1618T>C (p.Ser540Pro) rs779865623 0.00006
NM_005660.3(SLC35A2):c.1039G>A (p.Ala347Thr) rs781948153 0.00006
NM_006922.4(SCN3A):c.5200G>C (p.Gly1734Arg) rs577933870 0.00006
NM_006946.4(SPTBN2):c.1336C>T (p.Arg446Cys) rs147422843 0.00006
NM_006946.4(SPTBN2):c.5593C>T (p.Arg1865Trp) rs755595060 0.00006
NM_007254.4(PNKP):c.1492A>C (p.Ile498Leu) rs753116883 0.00006
NM_012210.4(TRIM32):c.1688G>A (p.Arg563His) rs138056275 0.00006
NM_012463.4(ATP6V0A2):c.1048G>A (p.Gly350Ser) rs768141782 0.00006
NM_013382.7(POMT2):c.1485-3C>T rs754892193 0.00006
NM_014053.4(FLVCR1):c.1022A>G (p.Tyr341Cys) rs200151282 0.00006
NM_014053.4(FLVCR1):c.944C>G (p.Pro315Arg) rs572881055 0.00006
NM_014141.6(CNTNAP2):c.3112G>A (p.Asp1038Asn) rs144003410 0.00006
NM_014159.7(SETD2):c.1343G>A (p.Arg448Gln) rs564020755 0.00006
NM_014363.6(SACS):c.10954C>A (p.Pro3652Thr) rs201505036 0.00006
NM_014363.6(SACS):c.11717C>T (p.Ala3906Val) rs375961779 0.00006
NM_014363.6(SACS):c.12190C>A (p.Pro4064Thr) rs200707453 0.00006
NM_014363.6(SACS):c.2024A>G (p.Asn675Ser) rs146395198 0.00006
NM_014363.6(SACS):c.2776A>G (p.Ile926Val) rs144362131 0.00006
NM_014363.6(SACS):c.432G>T (p.Trp144Cys) rs368570790 0.00006
NM_014363.6(SACS):c.6364A>G (p.Lys2122Glu) rs755723511 0.00006
NM_014795.4(ZEB2):c.2855G>C (p.Arg952Thr) rs151256895 0.00006
NM_014855.3(AP5Z1):c.1132G>A (p.Gly378Arg) rs777093701 0.00006
NM_014855.3(AP5Z1):c.1360C>T (p.Leu454Phe) rs371402624 0.00006
NM_014855.3(AP5Z1):c.2221G>A (p.Glu741Lys) rs199745141 0.00006
NM_015046.7(SETX):c.5537G>A (p.Arg1846His) rs373571937 0.00006
NM_015046.7(SETX):c.7660T>A (p.Phe2554Ile) rs368269464 0.00006
NM_015046.7(SETX):c.7874C>T (p.Pro2625Leu) rs553413088 0.00006
NM_016239.4(MYO15A):c.4561G>C (p.Glu1521Gln) rs769189017 0.00006
NM_016341.4(PLCE1):c.3518C>T (p.Ser1173Phe) rs180753337 0.00006
NM_017882.3(CLN6):c.271G>A (p.Val91Ile) rs140519790 0.00006
NM_020247.5(COQ8A):c.1198C>T (p.Arg400Trp) rs541836846 0.00006
NM_020247.5(COQ8A):c.137C>T (p.Thr46Met) rs187123516 0.00006
NM_020247.5(COQ8A):c.1645G>A (p.Gly549Ser) rs119468009 0.00006
NM_020919.4(ALS2):c.2632C>T (p.Leu878Phe) rs568716023 0.00006
NM_020975.6(RET):c.3005G>A (p.Ser1002Asn) rs763489828 0.00006
NM_021098.3(CACNA1H):c.2215C>T (p.Arg739Cys) rs371167728 0.00006
NM_021098.3(CACNA1H):c.4426G>A (p.Ala1476Thr) rs374297889 0.00006
NM_021830.5(TWNK):c.1975G>A (p.Ala659Thr) rs370814108 0.00006
NM_024301.5(FKRP):c.562G>A (p.Ala188Thr) rs746905689 0.00006
NM_024411.5(PDYN):c.135C>G (p.Cys45Trp) rs776557797 0.00006
NM_024577.4(SH3TC2):c.2492G>A (p.Ser831Asn) rs375034766 0.00006
NM_024577.4(SH3TC2):c.3835C>T (p.Arg1279Trp) rs536334280 0.00006
NM_024589.3(ROGDI):c.584A>G (p.Asn195Ser) rs201116642 0.00006
NM_025137.4(SPG11):c.316G>A (p.Ala106Thr) rs201842512 0.00006
NM_030962.4(SBF2):c.3812G>A (p.Arg1271His) rs201249004 0.00006
NM_032409.3(PINK1):c.1382T>G (p.Leu461Arg) rs144440543 0.00006
NM_033305.3(VPS13A):c.7658A>T (p.Asp2553Val) rs758912053 0.00006
NM_133433.4(NIPBL):c.7418T>C (p.Val2473Ala) rs185745349 0.00006
NM_133642.5(LARGE1):c.941A>T (p.Gln314Leu) rs149747266 0.00006
NM_152564.5(VPS13B):c.2617A>G (p.Met873Val) rs745651556 0.00006
NM_173500.4(TTBK2):c.3443G>A (p.Arg1148His) rs199594294 0.00006
NM_175875.5(SIX5):c.1687C>T (p.Leu563Phe) rs781343581 0.00006
NM_177924.5(ASAH1):c.997C>G (p.Arg333Gly) rs543697946 0.00006
NM_181882.3(PRX):c.1100C>A (p.Ala367Asp) rs143400291 0.00006
NM_181882.3(PRX):c.3886G>C (p.Gly1296Arg) rs769014032 0.00006
NM_181882.3(PRX):c.839C>T (p.Pro280Leu) rs557355077 0.00006
NM_182914.3(SYNE2):c.12614C>T (p.Thr4205Ile) rs376207235 0.00006
NM_182914.3(SYNE2):c.17591A>G (p.Asn5864Ser) rs566886977 0.00006
NM_182914.3(SYNE2):c.7664C>T (p.Thr2555Met) rs201297144 0.00006
NM_182961.4(SYNE1):c.10160C>G (p.Ala3387Gly) rs201621810 0.00006
NM_182961.4(SYNE1):c.11475C>G (p.Cys3825Trp) rs146919170 0.00006
NM_182961.4(SYNE1):c.11999C>A (p.Ala4000Glu) rs375752705 0.00006
NM_182961.4(SYNE1):c.13631A>C (p.Asp4544Ala) rs149081144 0.00006
NM_182961.4(SYNE1):c.1665A>C (p.Gln555His) rs561648669 0.00006
NM_182961.4(SYNE1):c.22016C>A (p.Ala7339Asp) rs146907132 0.00006
NM_182961.4(SYNE1):c.22219G>A (p.Ala7407Thr) rs575637225 0.00006
NM_182961.4(SYNE1):c.23983G>A (p.Glu7995Lys) rs781626097 0.00006
NM_182961.4(SYNE1):c.25952G>A (p.Arg8651His) rs144888773 0.00006
NM_182961.4(SYNE1):c.2893-5G>A rs370196519 0.00006
NM_182961.4(SYNE1):c.310-468G>A rs143635963 0.00006
NM_182961.4(SYNE1):c.3436C>G (p.Gln1146Glu) rs760256766 0.00006
NM_182961.4(SYNE1):c.3944G>C (p.Arg1315Pro) rs1043288099 0.00006
NM_182961.4(SYNE1):c.4562G>A (p.Arg1521Gln) rs149606474 0.00006
NM_182961.4(SYNE1):c.5049G>T (p.Met1683Ile) rs755866233 0.00006
NM_182961.4(SYNE1):c.5228A>G (p.Asp1743Gly) rs555731770 0.00006
NM_182961.4(SYNE1):c.5392G>T (p.Asp1798Tyr) rs772266857 0.00006
NM_182961.4(SYNE1):c.5441A>G (p.Glu1814Gly) rs557081125 0.00006
NM_182961.4(SYNE1):c.6094G>A (p.Glu2032Lys) rs367594476 0.00006
NM_198994.3(TGM6):c.1303G>A (p.Val435Met) rs769042038 0.00006
NM_201384.3(PLEC):c.4363C>T (p.Arg1455Cys) rs782436596 0.00006
NM_201384.3(PLEC):c.5092C>T (p.Arg1698Trp) rs201386659 0.00006
NM_201384.3(PLEC):c.7672C>T (p.Arg2558Trp) rs961518883 0.00006
NM_201384.3(PLEC):c.7829C>T (p.Ala2610Val) rs782085255 0.00006
NM_201384.3(PLEC):c.9835G>C (p.Val3279Leu) rs200407723 0.00006
NM_201525.4(ADGRG1):c.1780C>T (p.Arg594Cys) rs371152613 0.00006
NM_000023.4(SGCA):c.575G>A (p.Arg192Gln) rs200945974 0.00005
NM_000051.4(ATM):c.2476A>C (p.Ile826Leu) rs587782397 0.00005
NM_000051.4(ATM):c.2770C>T (p.Arg924Trp) rs55723361 0.00005
NM_000051.4(ATM):c.4724G>A (p.Arg1575His) rs550552791 0.00005
NM_000051.4(ATM):c.659C>T (p.Ala220Val) rs145355104 0.00005
NM_000051.4(ATM):c.9031A>G (p.Met3011Val) rs372795527 0.00005
NM_000070.3(CAPN3):c.835T>C (p.Ser279Pro) rs755930521 0.00005
NM_000080.4(CHRNE):c.1168C>T (p.Arg390Trp) rs140763858 0.00005
NM_000209.4(PDX1):c.694G>A (p.Gly232Ser) rs367625089 0.00005
NM_000257.4(MYH7):c.4294G>A (p.Val1432Ile) rs144200285 0.00005
NM_000370.3(TTPA):c.745G>A (p.Glu249Lys) rs1041651534 0.00005
NM_000391.4(TPP1):c.1490G>A (p.Arg497His) rs549928656 0.00005
NM_000426.4(LAMA2):c.1550A>T (p.Glu517Val) rs372358704 0.00005
NM_000435.3(NOTCH3):c.1631G>A (p.Arg544His) rs751284168 0.00005
NM_000435.3(NOTCH3):c.351C>T (p.Cys117=) rs200881673 0.00005
NM_000435.3(NOTCH3):c.451C>G (p.Gln151Glu) rs371491165 0.00005
NM_000435.3(NOTCH3):c.6521G>A (p.Arg2174Gln) rs1337328035 0.00005
NM_000435.3(NOTCH3):c.743G>C (p.Gly248Ala) rs141402160 0.00005
NM_000458.4(HNF1B):c.1654-4G>A rs193922485 0.00005
NM_000702.4(ATP1A2):c.1461+5G>A rs199906945 0.00005
NM_000726.5(CACNB4):c.1418G>A (p.Arg473His) rs368111233 0.00005
NM_000726.5(CACNB4):c.148-90306C>T rs547439915 0.00005
NM_000742.4(CHRNA2):c.1464G>A (p.Ser488=) rs796052305 0.00005
NM_001009944.3(PKD1):c.9820C>T (p.Arg3274Cys) rs531854741 0.00005
NM_001039141.3(TRIOBP):c.4298C>T (p.Pro1433Leu) rs761830009 0.00005
NM_001042492.3(NF1):c.1894T>A (p.Cys632Ser) rs370789267 0.00005
NM_001112741.2(KCNC1):c.1426G>A (p.Val476Ile) rs146311746 0.00005
NM_001130987.2(DYSF):c.132C>A (p.Asn44Lys) rs772240035 0.00005
NM_001164508.2(NEB):c.2683G>A (p.Ala895Thr) rs753428817 0.00005
NM_001165963.4(SCN1A):c.3060C>A (p.His1020Gln) rs150154265 0.00005
NM_001166114.2(PNPLA6):c.4003C>T (p.Pro1335Ser) rs151264767 0.00005
NM_001267550.2(TTN):c.106388G>C (p.Gly35463Ala) rs373369136 0.00005
NM_001267550.2(TTN):c.10654G>C (p.Ala3552Pro) rs774004409 0.00005
NM_001267550.2(TTN):c.15148G>T (p.Gly5050Trp) rs908686601 0.00005
NM_001267550.2(TTN):c.22922C>T (p.Ser7641Leu) rs369508943 0.00005
NM_001267550.2(TTN):c.54167G>A (p.Arg18056Gln) rs376932266 0.00005
NM_001267550.2(TTN):c.57593A>G (p.Asn19198Ser) rs199787097 0.00005
NM_001267550.2(TTN):c.58017G>C (p.Leu19339Phe) rs368025965 0.00005
NM_001267550.2(TTN):c.59813C>T (p.Ala19938Val) rs1187337182 0.00005
NM_001267550.2(TTN):c.61289G>A (p.Cys20430Tyr) rs527704660 0.00005
NM_001267550.2(TTN):c.77348G>A (p.Arg25783Gln) rs777428147 0.00005
NM_001267550.2(TTN):c.89760A>C (p.Glu29920Asp) rs747181293 0.00005
NM_001267550.2(TTN):c.95716C>G (p.Pro31906Ala) rs755949122 0.00005
NM_001278064.2(GRM1):c.3044C>G (p.Pro1015Arg) rs199777173 0.00005
NM_001367561.1(DOCK7):c.5080A>G (p.Met1694Val) rs142608509 0.00005
NM_001378452.1(ITPR1):c.256G>A (p.Ala86Thr) rs767787371 0.00005
NM_001378969.1(KCND3):c.1798G>A (p.Gly600Arg) rs149344567 0.00005
NM_001458.5(FLNC):c.4222G>A (p.Glu1408Lys) rs965589915 0.00005
NM_001692.4(ATP6V1B1):c.992G>A (p.Arg331Gln) rs148429410 0.00005
NM_001849.4(COL6A2):c.*1C>T rs376976896 0.00005
NM_001849.4(COL6A2):c.1493G>A (p.Arg498His) rs267606749 0.00005
NM_001851.6(COL9A1):c.166+5G>A rs544432669 0.00005
NM_001852.4(COL9A2):c.629C>T (p.Pro210Leu) rs199831035 0.00005
NM_002055.5(GFAP):c.86G>A (p.Arg29His) rs201998644 0.00005
NM_002087.4(GRN):c.803C>T (p.Thr268Met) rs202006119 0.00005
NM_002693.3(POLG):c.1684C>T (p.Arg562Trp) rs756952607 0.00005
NM_002693.3(POLG):c.1850G>A (p.Arg617His) rs779961986 0.00005
NM_003919.3(SGCE):c.21G>A (p.Trp7Ter) rs201378067 0.00005
NM_004172.5(SLC1A3):c.1144G>A (p.Val382Met) rs199787096 0.00005
NM_004817.4(TJP2):c.3500G>T (p.Arg1167Leu) rs370985421 0.00005
NM_005477.3(HCN4):c.2537C>T (p.Pro846Leu) rs747467877 0.00005
NM_005529.7(HSPG2):c.10633G>A (p.Val3545Ile) rs538111168 0.00005
NM_005529.7(HSPG2):c.10661G>A (p.Arg3554His) rs144854184 0.00005
NM_005529.7(HSPG2):c.4813G>A (p.Gly1605Arg) rs370427626 0.00005
NM_005529.7(HSPG2):c.5075G>T (p.Gly1692Val) rs777795072 0.00005
NM_005629.4(SLC6A8):c.1874G>A (p.Ser625Asn) rs1181103233 0.00005
NM_006796.3(AFG3L2):c.2047A>G (p.Met683Val) rs751855138 0.00005
NM_006946.4(SPTBN2):c.3824G>A (p.Arg1275Gln) rs534938954 0.00005
NM_006946.4(SPTBN2):c.6280C>T (p.Arg2094Trp) rs368782432 0.00005
NM_007078.3(LDB3):c.1904T>G (p.Val635Gly) rs567014755 0.00005
NM_014159.7(SETD2):c.986G>A (p.Arg329Gln) rs540015912 0.00005
NM_014363.6(SACS):c.6349G>A (p.Glu2117Lys) rs754033201 0.00005
NM_014845.6(FIG4):c.2200G>A (p.Glu734Lys) rs372846619 0.00005
NM_014946.4(SPAST):c.832G>A (p.Val278Met) rs369908571 0.00005
NM_015046.7(SETX):c.1015A>C (p.Lys339Gln) rs768437607 0.00005
NM_015046.7(SETX):c.3056C>A (p.Ser1019Tyr) rs749204574 0.00005
NM_015046.7(SETX):c.4225A>T (p.Asn1409Tyr) rs373375060 0.00005
NM_015046.7(SETX):c.4252C>G (p.Pro1418Ala) rs747356601 0.00005
NM_015346.4(ZFYVE26):c.2010C>G (p.His670Gln) rs749925808 0.00005
NM_016239.4(MYO15A):c.5925G>A (p.Trp1975Ter) rs375290498 0.00005
NM_017837.4(PIGV):c.115G>A (p.Glu39Lys) rs369275802 0.00005
NM_018136.5(ASPM):c.7002G>T (p.Met2334Ile) rs764918001 0.00005
NM_018319.4(TDP1):c.1701G>C (p.Met567Ile) rs375084022 0.00005
NM_020247.5(COQ8A):c.1246C>T (p.Arg416Cys) rs151292389 0.00005
NM_020919.4(ALS2):c.3863C>T (p.Pro1288Leu) rs376835062 0.00005
NM_022772.4(EPS8L2):c.793G>A (p.Asp265Asn) rs775248143 0.00005
NM_024577.4(SH3TC2):c.2257C>T (p.Arg753Trp) rs530824367 0.00005
NM_024884.3(L2HGDH):c.70C>T (p.Pro24Ser) rs749417358 0.00005
NM_025137.4(SPG11):c.5471G>A (p.Arg1824Gln) rs752401008 0.00005
NM_032119.4(ADGRV1):c.16325G>A (p.Gly5442Asp) rs376505416 0.00005
NM_032119.4(ADGRV1):c.4786G>A (p.Val1596Ile) rs371179945 0.00005
NM_032737.4(LMNB2):c.1234G>A (p.Val412Ile) rs577848864 0.00005
NM_152743.4(BRAT1):c.578C>T (p.Ala193Val) rs144841598 0.00005
NM_152743.4(BRAT1):c.626C>T (p.Ala209Val) rs112960104 0.00005
NM_153033.5(KCTD7):c.190A>G (p.Thr64Ala) rs201296399 0.00005
NM_173500.4(TTBK2):c.2746C>A (p.Leu916Ile) rs371807025 0.00005
NM_173500.4(TTBK2):c.3484C>T (p.Arg1162Cys) rs200437800 0.00005
NM_175914.5(HNF4A):c.*4G>A rs193922468 0.00005
NM_175914.5(HNF4A):c.83C>T (p.Ala28Val) rs140143857 0.00005
NM_176787.5(PIGN):c.1333G>A (p.Val445Ile) rs187036839 0.00005
NM_181882.3(PRX):c.4244_4246dup (p.Val1415_Ser1416insLeu) rs771234852 0.00005
NM_182914.3(SYNE2):c.2194C>A (p.Gln732Lys) rs758897129 0.00005
NM_182961.4(SYNE1):c.10048A>G (p.Asn3350Asp) rs145117891 0.00005
NM_182961.4(SYNE1):c.11848C>T (p.Leu3950Phe) rs182154754 0.00005
NM_182961.4(SYNE1):c.12142T>G (p.Cys4048Gly) rs377526133 0.00005
NM_182961.4(SYNE1):c.12958C>T (p.His4320Tyr) rs775930653 0.00005
NM_182961.4(SYNE1):c.16568A>G (p.Asn5523Ser) rs773901491 0.00005
NM_182961.4(SYNE1):c.20069C>T (p.Thr6690Met) rs143674856 0.00005
NM_182961.4(SYNE1):c.21502G>A (p.Val7168Ile) rs760451139 0.00005
NM_182961.4(SYNE1):c.2174C>T (p.Thr725Met) rs374866393 0.00005
NM_182961.4(SYNE1):c.5048T>G (p.Met1683Arg) rs769420760 0.00005
NM_182961.4(SYNE1):c.7523A>T (p.Gln2508Leu) rs201127061 0.00005
NM_201384.3(PLEC):c.10615C>T (p.Arg3539Cys) rs201438739 0.00005
NM_201384.3(PLEC):c.5023C>T (p.Arg1675Trp) rs567331060 0.00005
NM_201384.3(PLEC):c.9724C>T (p.Pro3242Ser) rs782376110 0.00005
NM_000051.4(ATM):c.202A>G (p.Ile68Val) rs35389822 0.00004
NM_000051.4(ATM):c.3154-5C>T rs55719759 0.00004
NM_000051.4(ATM):c.4466G>A (p.Arg1489His) rs201594549 0.00004
NM_000051.4(ATM):c.6179G>C (p.Arg2060Pro) rs376521407 0.00004
NM_000051.4(ATM):c.7592T>C (p.Met2531Thr) rs587781365 0.00004
NM_000051.4(ATM):c.8558C>T (p.Thr2853Met) rs141534716 0.00004
NM_000069.3(CACNA1S):c.4882C>T (p.Leu1628Phe) rs200848930 0.00004
NM_000070.3(CAPN3):c.1001A>T (p.His334Leu) rs749863676 0.00004
NM_000070.3(CAPN3):c.1553A>G (p.Gln518Arg) rs764593698 0.00004
NM_000070.3(CAPN3):c.2184+3G>A rs771917810 0.00004
NM_000083.3(CLCN1):c.1748A>G (p.Gln583Arg) rs747895358 0.00004
NM_000083.3(CLCN1):c.1831C>T (p.Arg611Cys) rs146469288 0.00004
NM_000083.3(CLCN1):c.2578G>A (p.Val860Ile) rs767209392 0.00004
NM_000083.3(CLCN1):c.2645C>T (p.Pro882Leu) rs745329674 0.00004
NM_000083.3(CLCN1):c.412G>A (p.Val138Ile) rs762344462 0.00004
NM_000088.4(COL1A1):c.3278G>A (p.Arg1093His) rs781491172 0.00004
NM_000088.4(COL1A1):c.4168C>T (p.Leu1390Phe) rs768808806 0.00004
NM_000141.5(FGFR2):c.1327C>G (p.Pro443Ala) rs7078073 0.00004
NM_000162.5(GCK):c.646G>A (p.Glu216Lys) rs778550411 0.00004
NM_000170.3(GLDC):c.869C>T (p.Ala290Val) rs534936420 0.00004
NM_000217.3(KCNA1):c.1449A>T (p.Gln483His) rs372539672 0.00004
NM_000218.3(KCNQ1):c.41G>T (p.Arg14Leu) rs1424013094 0.00004
NM_000238.4(KCNH2):c.1128+1884G>A rs765679790 0.00004
NM_000288.4(PEX7):c.203A>T (p.Asp68Val) rs763388501 0.00004
NM_000304.4(PMP22):c.185T>G (p.Leu62Arg) rs756046682 0.00004
NM_000334.4(SCN4A):c.2377-5C>T rs560170181 0.00004
NM_000334.4(SCN4A):c.3871A>G (p.Ile1291Val) rs777298727 0.00004
NM_000334.4(SCN4A):c.5126A>G (p.Asn1709Ser) rs766365683 0.00004
NM_000334.4(SCN4A):c.713C>T (p.Thr238Met) rs201661188 0.00004
NM_000360.4(TH):c.304G>T (p.Val102Leu) rs372077622 0.00004
NM_000371.4(TTR):c.386C>T (p.Ala129Val) rs121918092 0.00004
NM_000388.4(CASR):c.308C>T (p.Thr103Ile) rs199734455 0.00004
NM_000399.5(EGR2):c.826C>A (p.Pro276Thr) rs774442561 0.00004
NM_000426.4(LAMA2):c.5050G>A (p.Glu1684Lys) rs201632009 0.00004
NM_000426.4(LAMA2):c.6539A>T (p.Asp2180Val) rs567385461 0.00004
NM_000426.4(LAMA2):c.7118C>T (p.Ser2373Leu) rs758887080 0.00004
NM_000426.4(LAMA2):c.9060G>A (p.Leu3020=) rs368896579 0.00004
NM_000435.3(NOTCH3):c.1724C>T (p.Thr575Met) rs371176740 0.00004
NM_000435.3(NOTCH3):c.1873G>A (p.Ala625Thr) rs747633377 0.00004
NM_000435.3(NOTCH3):c.2149C>T (p.Arg717Cys) rs144163298 0.00004
NM_000435.3(NOTCH3):c.3566T>C (p.Phe1189Ser) rs764617561 0.00004
NM_000435.3(NOTCH3):c.488G>A (p.Arg163Gln) rs761209241 0.00004
NM_000435.3(NOTCH3):c.6267G>A (p.Pro2089=) rs577303432 0.00004
NM_000435.3(NOTCH3):c.6437C>T (p.Ala2146Val) rs770739669 0.00004
NM_000500.9(CYP21A2):c.1075G>A (p.Val359Ile) rs373579128 0.00004
NM_000540.3(RYR1):c.13498G>A (p.Glu4500Lys) rs752192756 0.00004
NM_000540.3(RYR1):c.4361C>T (p.Pro1454Leu) rs149737658 0.00004
NM_000540.3(RYR1):c.4963C>T (p.Arg1655Cys) rs371777056 0.00004
NM_000545.8(HNF1A):c.527-18G>A rs375259151 0.00004
NM_000722.4(CACNA2D1):c.1141A>G (p.Lys381Glu) rs756707031 0.00004
NM_000726.5(CACNB4):c.521+5G>A rs768612563 0.00004
NM_000744.7(CHRNA4):c.1637T>G (p.Val546Gly) rs764888239 0.00004
NM_000744.7(CHRNA4):c.514C>T (p.Gln172Ter) rs112748821 0.00004
NM_001005361.3(DNM2):c.2237C>T (p.Thr746Met) rs202136528 0.00004
NM_001009944.3(PKD1):c.10006G>A (p.Val3336Ile) rs754956606 0.00004
NM_001009944.3(PKD1):c.10933C>T (p.Arg3645Cys) rs765277688 0.00004
NM_001009944.3(PKD1):c.1723-17G>A rs749856740 0.00004
NM_001009944.3(PKD1):c.239G>A (p.Arg80Gln) rs1190107349 0.00004
NM_001009944.3(PKD1):c.5209A>G (p.Thr1737Ala) rs760993331 0.00004
NM_001009944.3(PKD1):c.7100C>T (p.Ser2367Phe) rs771932172 0.00004
NM_001038603.3(MARVELD2):c.476A>G (p.Tyr159Cys) rs575942430 0.00004
NM_001039213.4(CEACAM16):c.703C>T (p.Arg235Cys) rs746164064 0.00004
NM_001048166.1(STIL):c.892A>G (p.Asn298Asp) rs770213403 0.00004
NM_001081.4(CUBN):c.3496G>A (p.Gly1166Arg) rs201443885 0.00004
NM_001083961.2(WDR62):c.3368A>C (p.Gln1123Pro) rs144233940 0.00004
NM_001127222.2(CACNA1A):c.1306G>A (p.Glu436Lys) rs759782636 0.00004
NM_001127222.2(CACNA1A):c.3175C>T (p.Pro1059Ser) rs775079932 0.00004
NM_001127222.2(CACNA1A):c.3226G>A (p.Ala1076Thr) rs554091859 0.00004
NM_001127222.2(CACNA1A):c.7306G>A (p.Ala2436Thr) rs754573556 0.00004
NM_001134407.3(GRIN2A):c.3961G>C (p.Glu1321Gln) rs370754278 0.00004
NM_001134407.3(GRIN2A):c.547T>A (p.Phe183Ile) rs587780353 0.00004
NM_001145809.2(MYH14):c.4946G>A (p.Arg1649Gln) rs368076336 0.00004
NM_001146262.4(SYT14):c.1709C>T (p.Ala570Val) rs970796538 0.00004
NM_001164508.2(NEB):c.22183G>A (p.Val7395Ile) rs1396168176 0.00004
NM_001191061.2(SLC25A22):c.562A>G (p.Lys188Glu) rs767949941 0.00004
NM_001242896.3(DEPDC5):c.380A>G (p.Tyr127Cys) rs370881336 0.00004
NM_001267550.2(TTN):c.15749C>T (p.Thr5250Ile) rs759384825 0.00004
NM_001267550.2(TTN):c.18037T>C (p.Tyr6013His) rs548015673 0.00004
NM_001267550.2(TTN):c.21785C>G (p.Thr7262Ser) rs200954184 0.00004
NM_001267550.2(TTN):c.24107C>T (p.Ser8036Leu) rs200598509 0.00004
NM_001267550.2(TTN):c.26564G>T (p.Gly8855Val) rs767057972 0.00004
NM_001267550.2(TTN):c.29015C>T (p.Thr9672Ile) rs769996978 0.00004
NM_001267550.2(TTN):c.29230C>T (p.Arg9744Cys) rs375266859 0.00004
NM_001267550.2(TTN):c.38845C>T (p.Pro12949Ser) rs757781411 0.00004
NM_001267550.2(TTN):c.40557C>T (p.Ser13519=) rs371178429 0.00004
NM_001267550.2(TTN):c.45199G>A (p.Asp15067Asn) rs370904881 0.00004
NM_001267550.2(TTN):c.62479T>C (p.Ser20827Pro) rs1001628726 0.00004
NM_001267550.2(TTN):c.65782C>T (p.Arg21928Trp) rs371856109 0.00004
NM_001267550.2(TTN):c.66015A>T (p.Gln22005His) rs747951231 0.00004
NM_001267550.2(TTN):c.67210G>A (p.Val22404Met) rs369257896 0.00004
NM_001267550.2(TTN):c.68887A>C (p.Thr22963Pro) rs771761816 0.00004
NM_001267550.2(TTN):c.70288G>A (p.Val23430Ile) rs549709481 0.00004
NM_001267550.2(TTN):c.7459C>A (p.Pro2487Thr) rs759448340 0.00004
NM_001267550.2(TTN):c.83821G>A (p.Glu27941Lys) rs545954394 0.00004
NM_001267550.2(TTN):c.93724C>T (p.Arg31242Cys) rs563887822 0.00004
NM_001267550.2(TTN):c.9443G>A (p.Arg3148His) rs368786036 0.00004
NM_001267550.2(TTN):c.94507G>A (p.Ala31503Thr) rs375657115 0.00004
NM_001267550.2(TTN):c.94664G>A (p.Arg31555His) rs727503545 0.00004
NM_001267550.2(TTN):c.95153G>T (p.Ser31718Ile) rs758006837 0.00004
NM_001278116.2(L1CAM):c.367G>A (p.Ala123Thr) rs782752037 0.00004
NM_001286445.3(RIPOR2):c.1858-1422G>T rs928982652 0.00004
NM_001330260.2(SCN8A):c.5558A>G (p.Lys1853Arg) rs1410900258 0.00004
NM_001365999.1(SZT2):c.7743-4A>G rs368440874 0.00004
NM_001378452.1(ITPR1):c.1554+6T>G rs371214686 0.00004
NM_001378452.1(ITPR1):c.3564+5G>T rs371420259 0.00004
NM_001378452.1(ITPR1):c.3766G>A (p.Ala1256Thr) rs768179678 0.00004
NM_001378452.1(ITPR1):c.6448G>A (p.Gly2150Ser) rs199890939 0.00004
NM_001378452.1(ITPR1):c.929C>T (p.Thr310Met) rs201693219 0.00004
NM_001378609.3(OTOGL):c.2986G>A (p.Asp996Asn) rs148362257 0.00004
NM_001378969.1(KCND3):c.1649G>A (p.Arg550His) rs151164490 0.00004
NM_001845.6(COL4A1):c.1402C>T (p.Leu468Phe) rs757163211 0.00004
NM_001853.4(COL9A3):c.1538C>T (p.Pro513Leu) rs202094480 0.00004
NM_001927.4(DES):c.109C>T (p.Arg37Trp) rs537881554 0.00004
NM_002047.4(GARS1):c.1991T>C (p.Ile664Thr) rs1064797334 0.00004
NM_002055.5(GFAP):c.31C>T (p.Arg11Cys) rs749815672 0.00004
NM_002693.3(POLG):c.487C>T (p.Pro163Ser) rs758454871 0.00004
NM_002693.3(POLG):c.863G>A (p.Arg288His) rs796052902 0.00004
NM_003482.4(KMT2D):c.9499C>T (p.Arg3167Trp) rs370155635 0.00004
NM_004006.3(DMD):c.10223C>T (p.Thr3408Ile) rs777510517 0.00004
NM_004082.5(DCTN1):c.2339T>C (p.Ile780Thr) rs374163967 0.00004
NM_004320.6(ATP2A1):c.-2C>T rs375892159 0.00004
NM_004393.6(DAG1):c.1370G>A (p.Arg457Gln) rs756890406 0.00004
NM_004393.6(DAG1):c.2123C>T (p.Thr708Met) rs758254304 0.00004
NM_004393.6(DAG1):c.535T>A (p.Ser179Thr) rs201869343 0.00004
NM_004839.4(HOMER2):c.350C>T (p.Thr117Met) rs752489637 0.00004
NM_004960.4(FUS):c.788A>G (p.Asn263Ser) rs144917373 0.00004
NM_005045.4(RELN):c.1197C>T (p.Ser399=) rs199686580 0.00004
NM_005045.4(RELN):c.2095G>A (p.Ala699Thr) rs543233426 0.00004
NM_005045.4(RELN):c.6632G>A (p.Arg2211His) rs374088118 0.00004
NM_005249.5(FOXG1):c.1273T>C (p.Ser425Pro) rs780242359 0.00004
NM_005529.7(HSPG2):c.3608C>A (p.Pro1203Gln) rs375214661 0.00004
NM_005529.7(HSPG2):c.4502C>T (p.Pro1501Leu) rs371955842 0.00004
NM_005529.7(HSPG2):c.6353G>A (p.Arg2118His) rs144032875 0.00004
NM_005529.7(HSPG2):c.665G>A (p.Arg222Gln) rs762529271 0.00004
NM_005548.3(KARS1):c.1724C>G (p.Pro575Arg) rs148798578 0.00004
NM_006397.3(RNASEH2A):c.874G>A (p.Gly292Ser) rs768346345 0.00004
NM_006420.3(ARFGEF2):c.2015G>A (p.Gly672Glu) rs373933885 0.00004
NM_006516.4(SLC2A1):c.1396G>A (p.Gly466Ser) rs138139624 0.00004
NM_006796.3(AFG3L2):c.1616C>A (p.Ser539Tyr) rs756205069 0.00004
NM_006796.3(AFG3L2):c.1736C>T (p.Ala579Val) rs551042055 0.00004
NM_006796.3(AFG3L2):c.838C>T (p.Arg280Trp) rs180989155 0.00004
NM_006922.4(SCN3A):c.2021G>A (p.Gly674Asp) rs751294193 0.00004
NM_006922.4(SCN3A):c.4236A>G (p.Gln1412=) rs551837418 0.00004
NM_006922.4(SCN3A):c.872C>T (p.Thr291Ile) rs757676103 0.00004
NM_006946.4(SPTBN2):c.232G>A (p.Val78Met) rs149918123 0.00004
NM_006946.4(SPTBN2):c.2647C>T (p.Arg883Cys) rs761263852 0.00004
NM_006946.4(SPTBN2):c.2729C>T (p.Ala910Val) rs532746761 0.00004
NM_006946.4(SPTBN2):c.5083C>T (p.Arg1695Trp) rs150270569 0.00004
NM_006946.4(SPTBN2):c.5522G>A (p.Arg1841Gln) rs778218574 0.00004
NM_006946.4(SPTBN2):c.6250G>A (p.Glu2084Lys) rs145191943 0.00004
NM_006946.4(SPTBN2):c.6283C>T (p.Arg2095Trp) rs761960627 0.00004
NM_006946.4(SPTBN2):c.6752G>A (p.Arg2251Gln) rs763398880 0.00004
NM_006946.4(SPTBN2):c.692G>A (p.Cys231Tyr) rs773129687 0.00004
NM_006946.4(SPTBN2):c.7006G>A (p.Glu2336Lys) rs765015336 0.00004
NM_007262.5(PARK7):c.218C>T (p.Pro73Leu) rs367584305 0.00004
NM_014053.4(FLVCR1):c.1365C>T (p.Tyr455=) rs779980010 0.00004
NM_014363.6(SACS):c.10256G>A (p.Arg3419His) rs536675517 0.00004
NM_014363.6(SACS):c.10737G>A (p.Met3579Ile) rs199970621 0.00004
NM_014363.6(SACS):c.11161G>A (p.Gly3721Ser) rs780789569 0.00004
NM_014363.6(SACS):c.11301A>T (p.Lys3767Asn) rs762041995 0.00004
NM_014363.6(SACS):c.12968C>T (p.Ser4323Leu) rs150225486 0.00004
NM_014363.6(SACS):c.1387C>A (p.His463Asn) rs149951538 0.00004
NM_014363.6(SACS):c.1913G>A (p.Cys638Tyr) rs778572943 0.00004
NM_014363.6(SACS):c.4255A>G (p.Ile1419Val) rs138245586 0.00004
NM_014363.6(SACS):c.4724G>A (p.Arg1575Gln) rs764992284 0.00004
NM_014363.6(SACS):c.7916T>C (p.Ile2639Thr) rs202144442 0.00004
NM_014363.6(SACS):c.8192G>A (p.Arg2731His) rs201127191 0.00004
NM_014845.6(FIG4):c.1405G>A (p.Gly469Arg) rs201742496 0.00004
NM_014846.4(WASHC5):c.2752C>T (p.Pro918Ser) rs367744328 0.00004
NM_014946.4(SPAST):c.1808C>T (p.Ala603Val) rs368801051 0.00004
NM_015046.7(SETX):c.*7C>T rs754956426 0.00004
NM_015046.7(SETX):c.1468G>A (p.Val490Ile) rs763545230 0.00004
NM_015046.7(SETX):c.146A>G (p.Lys49Arg) rs142551293 0.00004
NM_015046.7(SETX):c.1754A>G (p.Gln585Arg) rs188247474 0.00004
NM_015046.7(SETX):c.2176T>C (p.Cys726Arg) rs377734748 0.00004
NM_015046.7(SETX):c.2935G>A (p.Asp979Asn) rs138287942 0.00004
NM_015046.7(SETX):c.3587A>G (p.Asn1196Ser) rs376381668 0.00004
NM_015046.7(SETX):c.4202G>T (p.Gly1401Val) rs185868357 0.00004
NM_015046.7(SETX):c.4436C>T (p.Ala1479Val) rs761119964 0.00004
NM_015046.7(SETX):c.4828C>T (p.Leu1610Phe) rs749891883 0.00004
NM_015046.7(SETX):c.4979A>G (p.His1660Arg) rs371894414 0.00004
NM_015046.7(SETX):c.546C>A (p.Asp182Glu) rs199748733 0.00004
NM_015046.7(SETX):c.7073A>G (p.Asp2358Gly) rs770469636 0.00004
NM_015046.7(SETX):c.7715C>T (p.Thr2572Met) rs773364996 0.00004
NM_015046.7(SETX):c.839-6T>C rs760584527 0.00004
NM_015346.4(ZFYVE26):c.6560G>A (p.Arg2187Gln) rs151306544 0.00004
NM_015915.5(ATL1):c.311A>G (p.Asn104Ser) rs377736535 0.00004
NM_018075.5(ANO10):c.5A>T (p.Lys2Ile) rs569513041 0.00004
NM_018319.4(TDP1):c.757G>A (p.Ala253Thr) rs202165305 0.00004
NM_018429.3(BDP1):c.3416A>T (p.Glu1139Val) rs529958885 0.00004
NM_018941.4(CLN8):c.661G>A (p.Gly221Ser) rs386834136 0.00004
NM_020247.5(COQ8A):c.1711G>A (p.Ala571Thr) rs762900727 0.00004
NM_020919.4(ALS2):c.1129G>A (p.Ala377Thr) rs200990057 0.00004
NM_020919.4(ALS2):c.2098A>G (p.Thr700Ala) rs745544432 0.00004
NM_021098.3(CACNA1H):c.2461C>G (p.Leu821Val) rs777617840 0.00004
NM_021098.3(CACNA1H):c.4736G>A (p.Arg1579Gln) rs367947771 0.00004
NM_021098.3(CACNA1H):c.5162G>A (p.Arg1721His) rs747789914 0.00004
NM_021830.5(TWNK):c.56G>A (p.Gly19Glu) rs767175342 0.00004
NM_021942.6(TRAPPC11):c.2234C>A (p.Thr745Lys) rs768000138 0.00004
NM_022089.4(ATP13A2):c.1781C>T (p.Ala594Val) rs372058266 0.00004
NM_022124.6(CDH23):c.982G>A (p.Ala328Thr) rs374545987 0.00004
NM_022464.5(SIL1):c.1088A>C (p.Gln363Pro) rs563414935 0.00004
NM_022464.5(SIL1):c.902C>T (p.Pro301Leu) rs1478296366 0.00004
NM_022489.4(INF2):c.2857C>T (p.Arg953Trp) rs942393807 0.00004
NM_024301.5(FKRP):c.328C>T (p.Arg110Trp) rs758759348 0.00004
NM_024577.4(SH3TC2):c.1168G>T (p.Asp390Tyr) rs771921298 0.00004
NM_024577.4(SH3TC2):c.1318C>T (p.Arg440Cys) rs768012192 0.00004
NM_024577.4(SH3TC2):c.3150G>A (p.Ala1050=) rs768044718 0.00004
NM_024577.4(SH3TC2):c.3611A>G (p.Lys1204Arg) rs143436632 0.00004
NM_024596.5(MCPH1):c.2255G>A (p.Arg752His) rs536823455 0.00004
NM_030962.4(SBF2):c.129G>A (p.Gln43=) rs761285505 0.00004
NM_030962.4(SBF2):c.136G>C (p.Glu46Gln) rs878855130 0.00004
NM_030962.4(SBF2):c.4523G>A (p.Arg1508His) rs770619905 0.00004
NM_032119.4(ADGRV1):c.7843G>A (p.Gly2615Ser) rs1343515415 0.00004
NM_032634.4(PIGO):c.365G>A (p.Arg122Gln) rs756043994 0.00004
NM_032737.4(LMNB2):c.1789G>A (p.Glu597Lys) rs777988017 0.00004
NM_033380.3(COL4A5):c.796C>G (p.Arg266Gly) rs104886071 0.00004
NM_130837.3(OPA1):c.1016C>T (p.Thr339Met) rs141326740 0.00004
NM_133261.3(GIPC3):c.826G>A (p.Ala276Thr) rs779376305 0.00004
NM_133433.4(NIPBL):c.6674C>T (p.Ser2225Phe) rs750309699 0.00004
NM_139319.3(SLC17A8):c.854C>T (p.Thr285Ile) rs727503424 0.00004
NM_144988.4(ALG14):c.326G>A (p.Arg109Gln) rs199689080 0.00004
NM_152743.4(BRAT1):c.1702G>A (p.Ala568Thr) rs141709461 0.00004
NM_175914.5(HNF4A):c.358T>C (p.Ser120Pro) rs780342162 0.00004
NM_175914.5(HNF4A):c.68G>A (p.Gly23Asp) rs773661614 0.00004
NM_175914.5(HNF4A):c.768G>C (p.Glu256Asp) rs193922477 0.00004
NM_181882.3(PRX):c.2384T>C (p.Met795Thr) rs756958051 0.00004
NM_181882.3(PRX):c.2464G>A (p.Glu822Lys) rs772009400 0.00004
NM_181882.3(PRX):c.2620G>A (p.Ala874Thr) rs145790961 0.00004
NM_181882.3(PRX):c.625G>A (p.Ala209Thr) rs769143653 0.00004
NM_182914.3(SYNE2):c.17141G>A (p.Arg5714His) rs200137127 0.00004
NM_182914.3(SYNE2):c.19153G>A (p.Glu6385Lys) rs374948516 0.00004
NM_182914.3(SYNE2):c.2296A>G (p.Met766Val) rs556342048 0.00004
NM_182961.4(SYNE1):c.11309A>G (p.Lys3770Arg) rs780693119 0.00004
NM_182961.4(SYNE1):c.11589A>C (p.Gln3863His) rs190032752 0.00004
NM_182961.4(SYNE1):c.12007A>G (p.Lys4003Glu) rs772000149 0.00004
NM_182961.4(SYNE1):c.1322C>T (p.Thr441Met) rs772375574 0.00004
NM_182961.4(SYNE1):c.13553G>A (p.Arg4518His) rs148248006 0.00004
NM_182961.4(SYNE1):c.13789G>A (p.Glu4597Lys) rs371375804 0.00004
NM_182961.4(SYNE1):c.14890G>A (p.Glu4964Lys) rs780258342 0.00004
NM_182961.4(SYNE1):c.15580C>T (p.Arg5194Cys) rs757086609 0.00004
NM_182961.4(SYNE1):c.16868G>A (p.Arg5623His) rs753544584 0.00004
NM_182961.4(SYNE1):c.17140C>T (p.Arg5714Trp) rs202171698 0.00004
NM_182961.4(SYNE1):c.19228G>A (p.Glu6410Lys) rs143554730 0.00004
NM_182961.4(SYNE1):c.19555G>A (p.Val6519Ile) rs563568189 0.00004
NM_182961.4(SYNE1):c.20169C>T (p.Asp6723=) rs367936675 0.00004
NM_182961.4(SYNE1):c.20449C>T (p.Arg6817Trp) rs140903556 0.00004
NM_182961.4(SYNE1):c.20660A>G (p.Gln6887Arg) rs150163670 0.00004
NM_182961.4(SYNE1):c.21095A>G (p.Gln7032Arg) rs752508132 0.00004
NM_182961.4(SYNE1):c.21560T>C (p.Leu7187Ser) rs778441411 0.00004
NM_182961.4(SYNE1):c.21613G>A (p.Val7205Met) rs377449974 0.00004
NM_182961.4(SYNE1):c.26279G>A (p.Gly8760Glu) rs747635401 0.00004
NM_182961.4(SYNE1):c.3186+4C>T rs747984490 0.00004
NM_182961.4(SYNE1):c.4075A>G (p.Thr1359Ala) rs377718960 0.00004
NM_182961.4(SYNE1):c.5230G>A (p.Glu1744Lys) rs540091060 0.00004
NM_182961.4(SYNE1):c.6289G>C (p.Ala2097Pro) rs375773340 0.00004
NM_182961.4(SYNE1):c.8339T>C (p.Leu2780Pro) rs757960938 0.00004
NM_182961.4(SYNE1):c.862G>A (p.Ala288Thr) rs770907182 0.00004
NM_182961.4(SYNE1):c.9814G>C (p.Val3272Leu) rs368607560 0.00004
NM_198859.4(PRICKLE2):c.2219C>T (p.Ser740Phe) rs760799226 0.00004
NM_198994.3(TGM6):c.1898T>C (p.Ile633Thr) rs746304003 0.00004
NM_198994.3(TGM6):c.691C>T (p.Arg231Ter) rs201338900 0.00004
NM_198994.3(TGM6):c.755G>A (p.Arg252His) rs147093390 0.00004
NM_198999.3(SLC26A5):c.1828G>A (p.Glu610Lys) rs148538056 0.00004
NM_201384.3(PLEC):c.4475C>T (p.Ala1492Val) rs782685705 0.00004
NM_201384.3(PLEC):c.6914G>A (p.Arg2305Gln) rs532388907 0.00004
NM_201384.3(PLEC):c.7393G>A (p.Glu2465Lys) rs782413821 0.00004
NM_201384.3(PLEC):c.7738C>T (p.Arg2580Trp) rs531396914 0.00004
NM_201384.3(PLEC):c.9394C>T (p.Arg3132Cys) rs370266957 0.00004
NM_201525.4(ADGRG1):c.1781G>A (p.Arg594His) rs757051705 0.00004
NM_206933.4(USH2A):c.12344G>A (p.Arg4115His) rs775075094 0.00004
NM_213599.3(ANO5):c.583C>T (p.Arg195Trp) rs149040903 0.00004
NM_213655.5(WNK1):c.2653G>T (p.Val885Phe) rs769092053 0.00004
NM_000023.4(SGCA):c.1133C>T (p.Ala378Val) rs751466306 0.00003
NM_000051.4(ATM):c.2414G>A (p.Arg805Gln) rs587782255 0.00003
NM_000051.4(ATM):c.5189G>A (p.Arg1730Gln) rs373789346 0.00003
NM_000051.4(ATM):c.649A>G (p.Ile217Val) rs547045780 0.00003
NM_000069.3(CACNA1S):c.2157G>A (p.Lys719=) rs889659456 0.00003
NM_000083.3(CLCN1):c.1541A>G (p.Asp514Gly) rs1441046956 0.00003
NM_000083.3(CLCN1):c.2864A>T (p.Glu955Val) rs150796358 0.00003
NM_000088.4(COL1A1):c.*16A>G rs202170631 0.00003
NM_000092.5(COL4A4):c.4693C>T (p.Arg1565Cys) rs372161135 0.00003
NM_000092.5(COL4A4):c.4708G>A (p.Glu1570Lys) rs757328549 0.00003
NM_000100.4(CSTB):c.167A>G (p.Lys56Arg) rs935774172 0.00003
NM_000110.4(DPYD):c.2074C>T (p.Arg692Trp) rs538703919 0.00003
NM_000156.6(GAMT):c.292C>T (p.Arg98Trp) rs765070826 0.00003
NM_000162.5(GCK):c.301G>A (p.Val101Met) rs762922697 0.00003
NM_000166.6(GJB1):c.689G>T (p.Arg230Leu) rs780335726 0.00003
NM_000166.6(GJB1):c.830G>A (p.Ser277Asn) rs748095080 0.00003
NM_000196.4(HSD11B2):c.949G>A (p.Asp317Asn) rs147758873 0.00003
NM_000209.4(PDX1):c.*8G>A rs940344638 0.00003
NM_000209.4(PDX1):c.820G>T (p.Val274Phe) rs930365498 0.00003
NM_000231.3(SGCG):c.1-3C>T rs373335254 0.00003
NM_000238.4(KCNH2):c.2902C>G (p.Pro968Ala) rs753788508 0.00003
NM_000334.4(SCN4A):c.2260G>A (p.Val754Ile) rs747401713 0.00003
NM_000334.4(SCN4A):c.4303G>C (p.Asp1435His) rs776355318 0.00003
NM_000334.4(SCN4A):c.5482C>T (p.Arg1828Cys) rs758511540 0.00003
NM_000334.4(SCN4A):c.553G>A (p.Asp185Asn) rs778661227 0.00003
NM_000335.5(SCN5A):c.1577G>A (p.Arg526His) rs45627438 0.00003
NM_000335.5(SCN5A):c.476A>G (p.Tyr159Cys) rs767116750 0.00003
NM_000337.6(SGCD):c.767C>T (p.Thr256Met) rs578056399 0.00003
NM_000338.3(SLC12A1):c.513A>C (p.Gln171His) rs942607677 0.00003
NM_000352.6(ABCC8):c.1067A>G (p.Tyr356Cys) rs59852838 0.00003
NM_000399.5(EGR2):c.733G>A (p.Asp245Asn) rs745823802 0.00003
NM_000400.4(ERCC2):c.6G>C (p.Lys2Asn) rs200443634 0.00003
NM_000426.4(LAMA2):c.2477G>A (p.Arg826Gln) rs759973830 0.00003
NM_000426.4(LAMA2):c.6518A>T (p.Asn2173Ile) rs529110314 0.00003
NM_000435.3(NOTCH3):c.2455C>G (p.Pro819Ala) rs1301248585 0.00003
NM_000435.3(NOTCH3):c.2588C>T (p.Ser863Leu) rs758913191 0.00003
NM_000435.3(NOTCH3):c.3311G>A (p.Gly1104Glu) rs145524535 0.00003
NM_000435.3(NOTCH3):c.3352A>T (p.Asn1118Tyr) rs376950447 0.00003
NM_000435.3(NOTCH3):c.4914A>G (p.Glu1638=) rs149222385 0.00003
NM_000435.3(NOTCH3):c.6136C>T (p.Pro2046Ser) rs1354320725 0.00003
NM_000451.4(SHOX):c.543A>C (p.Lys181Asn) rs202144835 0.00003
NM_000451.4(SHOX):c.640G>A (p.Ala214Thr) rs1335171952 0.00003
NM_000484.4(APP):c.*2C>T rs777073624 0.00003
NM_000500.9(CYP21A2):c.1222+8G>A rs752693177 0.00003
NM_000500.9(CYP21A2):c.143A>G (p.Tyr48Cys) rs566306310 0.00003
NM_000540.3(RYR1):c.2390G>A (p.Gly797Asp) rs896357123 0.00003
NM_000540.3(RYR1):c.614G>C (p.Cys205Ser) rs201834803 0.00003
NM_000545.8(HNF1A):c.1322C>A (p.Thr441Lys) rs371544082 0.00003
NM_000548.5(TSC2):c.5266G>A (p.Glu1756Lys) rs375075952 0.00003
NM_000702.4(ATP1A2):c.1891A>G (p.Ile631Val) rs201977531 0.00003
NM_000702.4(ATP1A2):c.3023G>A (p.Arg1008Gln) rs781023681 0.00003
NM_000751.3(CHRND):c.730C>T (p.Arg244Cys) rs376642208 0.00003
NM_000784.4(CYP27A1):c.871G>A (p.Glu291Lys) rs190012697 0.00003
NM_001005361.3(DNM2):c.1993G>A (p.Ala665Thr) rs1262634479 0.00003
NM_001005361.3(DNM2):c.603C>T (p.Ile201=) rs980931289 0.00003
NM_001009944.3(PKD1):c.11014C>T (p.Arg3672Trp) rs140389000 0.00003
NM_001009944.3(PKD1):c.5173G>A (p.Ala1725Thr) rs779607937 0.00003
NM_001009944.3(PKD1):c.5777C>T (p.Ala1926Val) rs754890213 0.00003
NM_001009944.3(PKD1):c.7456G>A (p.Ala2486Thr) rs567983155 0.00003
NM_001009944.3(PKD1):c.8394C>T (p.Gly2798=) rs760811822 0.00003
NM_001009944.3(PKD1):c.9313C>T (p.Arg3105Trp) rs1376608198 0.00003
NM_001039141.3(TRIOBP):c.6022C>T (p.Arg2008Trp) rs772305308 0.00003
NM_001101426.4(CRPPA):c.827T>C (p.Ile276Thr) rs1314571093 0.00003
NM_001110556.2(FLNA):c.1542G>C (p.Glu514Asp) rs782765195 0.00003
NM_001110792.2(MECP2):c.968C>T (p.Thr323Met) rs61751445 0.00003
NM_001126108.2(SLC12A3):c.1669+5G>A rs779917194 0.00003
NM_001127222.2(CACNA1A):c.1534G>A (p.Glu512Lys) rs375210532 0.00003
NM_001127222.2(CACNA1A):c.6125C>T (p.Thr2042Met) rs563345694 0.00003
NM_001127222.2(CACNA1A):c.6193G>A (p.Val2065Met) rs776203885 0.00003
NM_001130987.2(DYSF):c.2744C>T (p.Thr915Met) rs769739410 0.00003
NM_001130987.2(DYSF):c.3506G>A (p.Arg1169His) rs780134612 0.00003
NM_001130987.2(DYSF):c.5558G>A (p.Arg1853His) rs372895279 0.00003
NM_001134407.3(GRIN2A):c.1007C>T (p.Pro336Leu) rs757262372 0.00003
NM_001145026.2(PTPRQ):c.5103C>A (p.Thr1701=) rs1175106700 0.00003
NM_001146262.4(SYT14):c.587A>G (p.Asn196Ser) rs200087065 0.00003
NM_001165963.4(SCN1A):c.1220T>C (p.Ile407Thr) rs398123581 0.00003
NM_001174089.2(SLC4A11):c.1049T>C (p.Ile350Thr) rs370322948 0.00003
NM_001191061.2(SLC25A22):c.190G>A (p.Gly64Ser) rs774766308 0.00003
NM_001242896.3(DEPDC5):c.2704G>A (p.Val902Ile) rs374944205 0.00003
NM_001242896.3(DEPDC5):c.3461C>T (p.Ser1154Phe) rs578244490 0.00003
NM_001244008.2(KIF1A):c.1597G>A (p.Glu533Lys) rs764182180 0.00003
NM_001244008.2(KIF1A):c.3759G>A (p.Pro1253=) rs777751073 0.00003
NM_001267550.2(TTN):c.105590G>A (p.Gly35197Asp) rs397517796 0.00003
NM_001267550.2(TTN):c.105806C>T (p.Thr35269Ile) rs1239639956 0.00003
NM_001267550.2(TTN):c.19528A>G (p.Ile6510Val) rs761041978 0.00003
NM_001267550.2(TTN):c.2998C>T (p.Leu1000Phe) rs140953779 0.00003
NM_001267550.2(TTN):c.34538-5T>A rs771217707 0.00003
NM_001267550.2(TTN):c.36472G>T (p.Val12158Phe) rs771574378 0.00003
NM_001267550.2(TTN):c.4552G>A (p.Val1518Ile) rs755962102 0.00003
NM_001267550.2(TTN):c.46036C>T (p.Arg15346Cys) rs767343871 0.00003
NM_001267550.2(TTN):c.50077G>A (p.Val16693Ile) rs377141765 0.00003
NM_001267550.2(TTN):c.53881+4C>T rs187632918 0.00003
NM_001267550.2(TTN):c.54140C>T (p.Ala18047Val) rs373815064 0.00003
NM_001267550.2(TTN):c.55198G>A (p.Ala18400Thr) rs769472573 0.00003
NM_001267550.2(TTN):c.57332G>A (p.Arg19111Gln) rs375808207 0.00003
NM_001267550.2(TTN):c.63110G>A (p.Arg21037His) rs775651612 0.00003
NM_001267550.2(TTN):c.65987G>A (p.Arg21996His) rs374489349 0.00003
NM_001267550.2(TTN):c.74814T>A (p.Ser24938Arg) rs747593205 0.00003
NM_001267550.2(TTN):c.77093T>G (p.Val25698Gly) rs759278736 0.00003
NM_001267550.2(TTN):c.81485C>T (p.Ser27162Leu) rs763903239 0.00003
NM_001267550.2(TTN):c.83332G>T (p.Val27778Leu) rs749009127 0.00003
NM_001267550.2(TTN):c.86120G>A (p.Gly28707Glu) rs754207859 0.00003
NM_001267550.2(TTN):c.8726A>G (p.Asn2909Ser) rs1300254374 0.00003
NM_001267550.2(TTN):c.88787C>G (p.Thr29596Ser) rs786205371 0.00003
NM_001267550.2(TTN):c.99518G>A (p.Cys33173Tyr) rs761362832 0.00003
NM_001278064.2(GRM1):c.2026G>A (p.Val676Met) rs752403373 0.00003
NM_001278064.2(GRM1):c.2661-7309A>T rs768023437 0.00003
NM_001278064.2(GRM1):c.2909C>T (p.Pro970Leu) rs1432380664 0.00003
NM_001278064.2(GRM1):c.3554G>A (p.Arg1185Gln) rs557752501 0.00003
NM_001293298.2(CEMIP):c.449C>T (p.Ala150Val) rs751790405 0.00003
NM_001370298.3(FGD4):c.1961A>G (p.Gln654Arg) rs199546503 0.00003
NM_001370298.3(FGD4):c.2289A>C (p.Glu763Asp) rs907657345 0.00003
NM_001376.5(DYNC1H1):c.13651G>A (p.Ala4551Thr) rs145366078 0.00003
NM_001378452.1(ITPR1):c.5762G>A (p.Arg1921Gln) rs375223667 0.00003
NM_001378969.1(KCND3):c.1314G>A (p.Ser438=) rs1247179970 0.00003
NM_001378969.1(KCND3):c.430G>A (p.Ala144Thr) rs143933558 0.00003
NM_001379200.1(TBX1):c.197C>T (p.Ala66Val) rs1383914204 0.00003
NM_001379200.1(TBX1):c.617C>T (p.Pro206Leu) rs766608075 0.00003
NM_001384474.1(LOXHD1):c.1605A>G (p.Ile535Met) rs770710016 0.00003
NM_001540.5(HSPB1):c.372C>G (p.His124Gln) rs145243219 0.00003
NM_001845.6(COL4A1):c.1055C>T (p.Pro352Leu) rs200786329 0.00003
NM_001961.4(EEF2):c.1088C>T (p.Thr363Met) rs980260154 0.00003
NM_002087.4(GRN):c.1112G>C (p.Ser371Thr) rs149023078 0.00003
NM_002160.4(TNC):c.2404C>T (p.Arg802Cys) rs756735994 0.00003
NM_002693.3(POLG):c.1498G>A (p.Ala500Thr) rs745506700 0.00003
NM_002693.3(POLG):c.1637G>A (p.Arg546His) rs773418477 0.00003
NM_002693.3(POLG):c.1780C>T (p.Leu594=) rs778172428 0.00003
NM_002693.3(POLG):c.2027C>T (p.Ala676Val) rs376306906 0.00003
NM_002693.3(POLG):c.2111A>C (p.Lys704Thr) rs1049107490 0.00003
NM_002693.3(POLG):c.2596C>T (p.Arg866Trp) rs748777396 0.00003
NM_002693.3(POLG):c.3239G>C (p.Ser1080Thr) rs779956099 0.00003
NM_002693.3(POLG):c.3445G>A (p.Ala1149Thr) rs879135314 0.00003
NM_002693.3(POLG):c.388C>T (p.Leu130Phe) rs201261842 0.00003
NM_002739.5(PRKCG):c.866C>A (p.Pro289Gln) rs376704133 0.00003
NM_003850.3(SUCLA2):c.80C>T (p.Ala27Val) rs368407554 0.00003
NM_003900.5(SQSTM1):c.416G>A (p.Arg139His) rs758090054 0.00003
NM_004004.6(GJB2):c.476A>T (p.Asp159Val) rs28931592 0.00003
NM_004004.6(GJB2):c.571T>C (p.Phe191Leu) rs397516878 0.00003
NM_004006.3(DMD):c.2069C>T (p.Thr690Ile) rs762475657 0.00003
NM_004006.3(DMD):c.2102A>C (p.Glu701Ala) rs772229363 0.00003
NM_004006.3(DMD):c.8828C>T (p.Thr2943Met) rs751810893 0.00003
NM_004172.5(SLC1A3):c.227G>A (p.Arg76Gln) rs148490778 0.00003
NM_004172.5(SLC1A3):c.940C>A (p.Leu314Ile) rs966200792 0.00003
NM_004287.5(GOSR2):c.57G>A (p.Met19Ile) rs369247929 0.00003
NM_004320.6(ATP2A1):c.1283A>G (p.Asn428Ser) rs138267146 0.00003
NM_004369.4(COL6A3):c.6224C>T (p.Pro2075Leu) rs113331139 0.00003
NM_004526.4(MCM2):c.2608C>T (p.Arg870Cys) rs773391587 0.00003
NM_004637.6(RAB7A):c.551A>G (p.Asn184Ser) rs752824265 0.00003
NM_005045.4(RELN):c.2938G>C (p.Ala980Pro) rs373969392 0.00003
NM_005051.3(QARS1):c.1607G>C (p.Cys536Ser) rs771579029 0.00003
NM_005051.3(QARS1):c.1612C>T (p.Arg538Trp) rs201176263 0.00003
NM_005051.3(QARS1):c.674G>A (p.Arg225Gln) rs138456917 0.00003
NM_005529.7(HSPG2):c.10336G>A (p.Val3446Met) rs573946760 0.00003
NM_005529.7(HSPG2):c.11546G>C (p.Arg3849Pro) rs144525987 0.00003
NM_005529.7(HSPG2):c.11975G>A (p.Arg3992His) rs764827758 0.00003
NM_005529.7(HSPG2):c.1495G>A (p.Val499Ile) rs376748881 0.00003
NM_005529.7(HSPG2):c.2791C>G (p.Arg931Gly) rs141852442 0.00003
NM_005529.7(HSPG2):c.3875A>G (p.Gln1292Arg) rs764233594 0.00003
NM_005529.7(HSPG2):c.6464G>A (p.Arg2155His) rs575744546 0.00003
NM_005529.7(HSPG2):c.7750C>T (p.Arg2584Trp) rs760052323 0.00003
NM_005529.7(HSPG2):c.9421C>T (p.Arg3141Cys) rs560125766 0.00003
NM_005529.7(HSPG2):c.9859G>A (p.Ala3287Thr) rs149276709 0.00003
NM_005591.4(MRE11):c.476T>C (p.Val159Ala) rs140130291 0.00003
NM_005912.3(MC4R):c.691G>A (p.Gly231Ser) rs1363347811 0.00003
NM_006005.3(WFS1):c.133G>A (p.Gly45Arg) rs1014892217 0.00003
NM_006030.4(CACNA2D2):c.998A>G (p.Asn333Ser) rs779326054 0.00003
NM_006790.3(MYOT):c.182A>C (p.His61Pro) rs372276337 0.00003
NM_006796.3(AFG3L2):c.292+2T>C rs779805236 0.00003
NM_006859.4(LIAS):c.376G>A (p.Ala126Thr) rs74528014 0.00003
NM_006946.4(SPTBN2):c.1160G>A (p.Arg387His) rs772590586 0.00003
NM_006946.4(SPTBN2):c.1303G>A (p.Ala435Thr) rs751975483 0.00003
NM_006946.4(SPTBN2):c.1882G>A (p.Glu628Lys) rs1027470381 0.00003
NM_006946.4(SPTBN2):c.3248G>A (p.Arg1083His) rs367949397 0.00003
NM_006946.4(SPTBN2):c.4648C>T (p.Arg1550Trp) rs757086442 0.00003
NM_006946.4(SPTBN2):c.5826G>A (p.Ala1942=) rs373276784 0.00003
NM_006946.4(SPTBN2):c.5939C>A (p.Ala1980Glu) rs750934185 0.00003
NM_006946.4(SPTBN2):c.6591C>T (p.Ser2197=) rs778388054 0.00003
NM_006996.3(SLC19A2):c.1291G>T (p.Ala431Ser) rs746375841 0.00003
NM_012301.4(MAGI2):c.826G>A (p.Val276Met) rs369905248 0.00003
NM_012463.4(ATP6V0A2):c.1014G>A (p.Leu338=) rs917452697 0.00003
NM_014053.4(FLVCR1):c.346C>T (p.Leu116=) rs150645228 0.00003
NM_014053.4(FLVCR1):c.49C>G (p.Pro17Ala) rs543847452 0.00003
NM_014053.4(FLVCR1):c.987T>G (p.Phe329Leu) rs762546149 0.00003
NM_014141.6(CNTNAP2):c.3833C>T (p.Thr1278Ile) rs760047247 0.00003
NM_014231.5(VAMP1):c.299T>C (p.Met100Thr) rs901075787 0.00003
NM_014254.3(RXYLT1):c.77A>G (p.His26Arg) rs1019967024 0.00003
NM_014363.6(SACS):c.10181A>G (p.Asn3394Ser) rs375898103 0.00003
NM_014363.6(SACS):c.10205A>G (p.Asp3402Gly) rs543563990 0.00003
NM_014363.6(SACS):c.10255C>T (p.Arg3419Cys) rs765758197 0.00003
NM_014363.6(SACS):c.10675C>G (p.Pro3559Ala) rs767704103 0.00003
NM_014363.6(SACS):c.10787C>T (p.Ser3596Phe) rs755172172 0.00003
NM_014363.6(SACS):c.11309C>G (p.Ala3770Gly) rs1170997950 0.00003
NM_014363.6(SACS):c.11886A>G (p.Ile3962Met) rs1252737332 0.00003
NM_014363.6(SACS):c.2853C>A (p.His951Gln) rs200644511 0.00003
NM_014363.6(SACS):c.4318A>G (p.Ser1440Gly) rs1172044277 0.00003
NM_014363.6(SACS):c.8539C>G (p.Leu2847Val) rs760976439 0.00003
NM_014845.6(FIG4):c.14C>T (p.Ala5Val) rs915749340 0.00003
NM_014845.6(FIG4):c.2360G>A (p.Ser787Asn) rs377017892 0.00003
NM_014846.4(WASHC5):c.2327G>A (p.Arg776His) rs750463169 0.00003
NM_014855.3(AP5Z1):c.176G>A (p.Arg59Gln) rs200423282 0.00003
NM_014855.3(AP5Z1):c.2018C>T (p.Ala673Val) rs754422151 0.00003
NM_014874.4(MFN2):c.1759C>T (p.Pro587Ser) rs771675874 0.00003
NM_015046.7(SETX):c.2390A>G (p.Lys797Arg) rs1273786747 0.00003
NM_015046.7(SETX):c.2755G>C (p.Val919Leu) rs561190371 0.00003
NM_015046.7(SETX):c.5071C>A (p.Leu1691Ile) rs756770572 0.00003
NM_015046.7(SETX):c.5591A>C (p.Gln1864Pro) rs375747001 0.00003
NM_015046.7(SETX):c.6085A>G (p.Lys2029Glu) rs746525639 0.00003
NM_015346.4(ZFYVE26):c.361G>A (p.Glu121Lys) rs201229339 0.00003
NM_015404.4(WHRN):c.827A>T (p.Asp276Val) rs143202640 0.00003
NM_016156.6(MTMR2):c.1523T>C (p.Ile508Thr) rs769280444 0.00003
NM_018075.5(ANO10):c.1559C>T (p.Ala520Val) rs150026260 0.00003
NM_018075.5(ANO10):c.989T>G (p.Leu330Arg) rs1024962328 0.00003
NM_018100.4(EFHC1):c.668A>G (p.Tyr223Cys) rs1307612935 0.00003
NM_018109.4(MTPAP):c.468G>C (p.Gln156His) rs547303023 0.00003
NM_018136.5(ASPM):c.5603G>A (p.Arg1868Lys) rs761106315 0.00003
NM_018319.4(TDP1):c.1799C>T (p.Thr600Met) rs772139596 0.00003
NM_018319.4(TDP1):c.716A>G (p.His239Arg) rs750038981 0.00003
NM_018429.3(BDP1):c.1060A>G (p.Lys354Glu) rs756650377 0.00003
NM_020247.5(COQ8A):c.1097A>G (p.Gln366Arg) rs759470563 0.00003
NM_020247.5(COQ8A):c.1132G>A (p.Val378Met) rs375821684 0.00003
NM_020247.5(COQ8A):c.1247G>A (p.Arg416His) rs767899984 0.00003
NM_020247.5(COQ8A):c.771G>A (p.Glu257=) rs371867831 0.00003
NM_020361.5(CPA6):c.505T>C (p.Tyr169His) rs201643526 0.00003
NM_020451.3(SELENON):c.1249C>T (p.Arg417Cys) rs769840172 0.00003
NM_020549.5(CHAT):c.1635-5C>A rs776745899 0.00003
NM_020822.3(KCNT1):c.2045G>A (p.Arg682Gln) rs1188425438 0.00003
NM_020919.4(ALS2):c.3416G>A (p.Arg1139Gln) rs761444982 0.00003
NM_021098.3(CACNA1H):c.1799C>T (p.Ala600Val) rs759349379 0.00003
NM_021098.3(CACNA1H):c.940C>T (p.Pro314Ser) rs200943355 0.00003
NM_021830.5(TWNK):c.1802G>A (p.Arg601Gln) rs141315771 0.00003
NM_022089.4(ATP13A2):c.3059A>G (p.Tyr1020Cys) rs372182128 0.00003
NM_022124.6(CDH23):c.1543A>G (p.Ile515Val) rs727504914 0.00003
NM_022464.5(SIL1):c.1321G>A (p.Glu441Lys) rs779649580 0.00003
NM_022464.5(SIL1):c.355C>G (p.Leu119Val) rs758512287 0.00003
NM_022464.5(SIL1):c.937C>A (p.Leu313Met) rs374933348 0.00003
NM_024577.4(SH3TC2):c.2861G>A (p.Arg954Gln) rs776426059 0.00003
NM_024678.6(NARS2):c.122G>A (p.Gly41Glu) rs1367741605 0.00003
NM_025137.4(SPG11):c.3551G>T (p.Ser1184Ile) rs766403944 0.00003
NM_025137.4(SPG11):c.6028G>T (p.Asp2010Tyr) rs1060501171 0.00003
NM_030962.4(SBF2):c.2807-3C>T rs375252298 0.00003
NM_030962.4(SBF2):c.3376A>T (p.Ile1126Leu) rs747669195 0.00003
NM_030962.4(SBF2):c.56G>T (p.Gly19Val) rs375560902 0.00003
NM_031844.3(HNRNPU):c.1259C>T (p.Ser420Leu) rs778010676 0.00003
NM_032119.4(ADGRV1):c.13765G>A (p.Val4589Met) rs375258567 0.00003
NM_032119.4(ADGRV1):c.15830G>A (p.Arg5277His) rs747856236 0.00003
NM_032119.4(ADGRV1):c.17108G>A (p.Arg5703His) rs201073459 0.00003
NM_032634.4(PIGO):c.1013G>A (p.Gly338Glu) rs749274989 0.00003
NM_033305.3(VPS13A):c.7340A>G (p.Tyr2447Cys) rs574650880 0.00003
NM_145239.3(PRRT2):c.755C>G (p.Ala252Gly) rs1053144630 0.00003
NM_152743.4(BRAT1):c.346G>A (p.Val116Ile) rs750543404 0.00003
NM_152743.4(BRAT1):c.811G>A (p.Val271Met) rs746527927 0.00003
NM_153700.2(STRC):c.4237A>T (p.Thr1413Ser) rs754834213 0.00003
NM_170707.4(LMNA):c.1001G>A (p.Ser334Asn) rs370656306 0.00003
NM_170707.4(LMNA):c.1007G>A (p.Arg336Gln) rs58105277 0.00003
NM_172107.4(KCNQ2):c.1301+6G>A rs377304987 0.00003
NM_173500.4(TTBK2):c.1060G>A (p.Asp354Asn) rs748178741 0.00003
NM_173500.4(TTBK2):c.187A>G (p.Met63Val) rs749472718 0.00003
NM_175914.5(HNF4A):c.53C>T (p.Thr18Met) rs199796094 0.00003
NM_176787.5(PIGN):c.1418T>C (p.Val473Ala) rs922043983 0.00003
NM_177924.5(ASAH1):c.622G>A (p.Val208Met) rs774912301 0.00003
NM_181882.3(PRX):c.1752G>C (p.Glu584Asp) rs759029769 0.00003
NM_181882.3(PRX):c.2450G>A (p.Arg817His) rs149241078 0.00003
NM_181882.3(PRX):c.4334C>T (p.Thr1445Ile) rs746338096 0.00003
NM_181882.3(PRX):c.899T>C (p.Leu300Ser) rs748380935 0.00003
NM_182914.3(SYNE2):c.15792G>C (p.Gln5264His) rs368363575 0.00003
NM_182914.3(SYNE2):c.16480-10C>G rs768388576 0.00003
NM_182914.3(SYNE2):c.17862G>T (p.Lys5954Asn) rs146016022 0.00003
NM_182914.3(SYNE2):c.18541-7G>A rs368396657 0.00003
NM_182961.4(SYNE1):c.10268G>A (p.Arg3423Gln) rs139691734 0.00003
NM_182961.4(SYNE1):c.10726C>T (p.Arg3576Trp) rs777447487 0.00003
NM_182961.4(SYNE1):c.13918T>C (p.Tyr4640His) rs748256440 0.00003
NM_182961.4(SYNE1):c.15986A>C (p.Glu5329Ala) rs886044412 0.00003
NM_182961.4(SYNE1):c.16132G>T (p.Ala5378Ser) rs374220794 0.00003
NM_182961.4(SYNE1):c.18194G>A (p.Arg6065Gln) rs777432650 0.00003
NM_182961.4(SYNE1):c.18622C>G (p.Gln6208Glu) rs558425673 0.00003
NM_182961.4(SYNE1):c.18930G>T (p.Gln6310His) rs759556319 0.00003
NM_182961.4(SYNE1):c.18952G>A (p.Glu6318Lys) rs758182381 0.00003
NM_182961.4(SYNE1):c.19039G>A (p.Asp6347Asn) rs368068433 0.00003
NM_182961.4(SYNE1):c.21815A>G (p.Lys7272Arg) rs764715827 0.00003
NM_182961.4(SYNE1):c.2386C>G (p.Leu796Val) rs1055043180 0.00003
NM_182961.4(SYNE1):c.24161C>T (p.Thr8054Met) rs771177928 0.00003
NM_182961.4(SYNE1):c.244C>T (p.Arg82Trp) rs772761179 0.00003
NM_182961.4(SYNE1):c.24802G>A (p.Glu8268Lys) rs527527845 0.00003
NM_182961.4(SYNE1):c.24959G>A (p.Gly8320Glu) rs748328529 0.00003
NM_182961.4(SYNE1):c.25135G>A (p.Glu8379Lys) rs531559372 0.00003
NM_182961.4(SYNE1):c.3911G>C (p.Gly1304Ala) rs141164314 0.00003
NM_182961.4(SYNE1):c.4670T>G (p.Phe1557Cys) rs373642960 0.00003
NM_182961.4(SYNE1):c.4735A>G (p.Ile1579Val) rs138691290 0.00003
NM_182961.4(SYNE1):c.6984G>A (p.Met2328Ile) rs372524102 0.00003
NM_182961.4(SYNE1):c.7277A>C (p.Lys2426Thr) rs764200857 0.00003
NM_182961.4(SYNE1):c.9679G>A (p.Glu3227Lys) rs1024177161 0.00003
NM_182961.4(SYNE1):c.9959C>T (p.Thr3320Met) rs548283137 0.00003
NM_198578.4(LRRK2):c.7300A>G (p.Ile2434Val) rs398124661 0.00003
NM_198994.3(TGM6):c.621C>A (p.Asp207Glu) rs148696208 0.00003
NM_201384.3(PLEC):c.11605G>A (p.Gly3869Ser) rs782123116 0.00003
NM_201384.3(PLEC):c.3619C>T (p.Arg1207Cys) rs782816670 0.00003
NM_201384.3(PLEC):c.797C>T (p.Pro266Leu) rs782324328 0.00003
NM_201384.3(PLEC):c.8620G>T (p.Asp2874Tyr) rs369356119 0.00003
NM_201525.4(ADGRG1):c.1798T>C (p.Trp600Arg) rs1414923097 0.00003
NM_206933.4(USH2A):c.10358C>G (p.Thr3453Arg) rs375485721 0.00003
NM_000021.4(PSEN1):c.1309A>G (p.Ile437Val) rs764971634 0.00002
NM_000023.4(SGCA):c.242G>A (p.Arg81His) rs747984529 0.00002
NM_000051.4(ATM):c.3071C>T (p.Ala1024Val) rs746133264 0.00002
NM_000051.4(ATM):c.4201T>A (p.Leu1401Ile) rs587779838 0.00002
NM_000051.4(ATM):c.4856G>A (p.Arg1619Lys) rs730881393 0.00002
NM_000051.4(ATM):c.5009C>T (p.Ala1670Val) rs375131360 0.00002
NM_000051.4(ATM):c.518G>T (p.Arg173Met) rs372694758 0.00002
NM_000051.4(ATM):c.5612C>T (p.Thr1871Ile) rs538452060 0.00002
NM_000051.4(ATM):c.5753G>C (p.Arg1918Thr) rs148064985 0.00002
NM_000051.4(ATM):c.6814G>A (p.Glu2272Lys) rs886039471 0.00002
NM_000051.4(ATM):c.7358G>A (p.Arg2453His) rs587781361 0.00002
NM_000051.4(ATM):c.8405A>G (p.Gln2802Arg) rs730881324 0.00002
NM_000051.4(ATM):c.8520G>C (p.Leu2840Phe) rs752652869 0.00002
NM_000051.4(ATM):c.95G>A (p.Arg32His) rs368161489 0.00002
NM_000069.3(CACNA1S):c.758G>A (p.Arg253Gln) rs768015104 0.00002
NM_000070.3(CAPN3):c.648C>T (p.Tyr216=) rs138846390 0.00002
NM_000080.4(CHRNE):c.1211C>T (p.Thr404Ile) rs747853975 0.00002
NM_000080.4(CHRNE):c.16C>T (p.Leu6Phe) rs746521766 0.00002
NM_000083.3(CLCN1):c.1342G>A (p.Val448Met) rs200371691 0.00002
NM_000083.3(CLCN1):c.2108G>C (p.Gly703Ala) rs1428234081 0.00002
NM_000089.4(COL1A2):c.2959G>A (p.Val987Ile) rs752207083 0.00002
NM_000098.3(CPT2):c.1448T>C (p.Val483Ala) rs1324631593 0.00002
NM_000110.4(DPYD):c.2599C>T (p.Arg867Cys) rs557220418 0.00002
NM_000144.5(FXN):c.356C>T (p.Thr119Met) rs757847415 0.00002
NM_000166.6(GJB1):c.-27C>T rs879254157 0.00002
NM_000209.4(PDX1):c.8G>C (p.Gly3Ala) rs1380564366 0.00002
NM_000217.3(KCNA1):c.61G>A (p.Asp21Asn) rs747465523 0.00002
NM_000238.4(KCNH2):c.1459G>A (p.Gly487Ser) rs562875924 0.00002
NM_000260.4(MYO7A):c.3503+10G>A rs782049232 0.00002
NM_000260.4(MYO7A):c.5327-10C>T rs781062618 0.00002
NM_000304.4(PMP22):c.255C>G (p.Cys85Trp) rs755701957 0.00002
NM_000334.4(SCN4A):c.1378G>A (p.Glu460Lys) rs540596321 0.00002
NM_000334.4(SCN4A):c.2207A>G (p.Asp736Gly) rs1397719163 0.00002
NM_000334.4(SCN4A):c.3622G>C (p.Glu1208Gln) rs754401226 0.00002
NM_000334.4(SCN4A):c.4052C>T (p.Thr1351Met) rs545724550 0.00002
NM_000334.4(SCN4A):c.4949C>T (p.Pro1650Leu) rs774183791 0.00002
NM_000334.4(SCN4A):c.757G>A (p.Val253Met) rs772899378 0.00002
NM_000334.4(SCN4A):c.766C>T (p.Leu256Phe) rs764694733 0.00002
NM_000368.5(TSC1):c.2065C>T (p.Arg689Cys) rs202241429 0.00002
NM_000368.5(TSC1):c.917G>A (p.Cys306Tyr) rs752290177 0.00002
NM_000388.4(CASR):c.220A>C (p.Met74Leu) rs745377913 0.00002
NM_000435.3(NOTCH3):c.1375G>A (p.Ala459Thr) rs370186772 0.00002
NM_000435.3(NOTCH3):c.319C>T (p.Arg107Trp) rs768965053 0.00002
NM_000435.3(NOTCH3):c.925G>A (p.Glu309Lys) rs1386908989 0.00002
NM_000451.4(SHOX):c.*5C>T rs1288254860 0.00002
NM_000454.5(SOD1):c.289G>A (p.Asp97Asn) rs121912459 0.00002
NM_000458.4(HNF1B):c.1390G>A (p.Gly464Ser) rs982085453 0.00002
NM_000458.4(HNF1B):c.314A>G (p.Glu105Gly) rs375625110 0.00002
NM_000489.6(ATRX):c.1474G>A (p.Glu492Lys) rs1418531949 0.00002
NM_000497.4(CYP11B1):c.1443A>G (p.Ile481Met) rs778584104 0.00002
NM_000500.9(CYP21A2):c.89T>A (p.Leu30His) rs1303387085 0.00002
NM_000525.4(KCNJ11):c.1040G>A (p.Arg347His) rs771797701 0.00002
NM_000540.3(RYR1):c.6838G>A (p.Val2280Ile) rs193922797 0.00002
NM_000545.8(HNF1A):c.125G>A (p.Gly42Asp) rs1261968643 0.00002
NM_000548.5(TSC2):c.4030G>A (p.Glu1344Lys) rs397515035 0.00002
NM_000548.5(TSC2):c.4349C>G (p.Pro1450Arg) rs45517338 0.00002
NM_000548.5(TSC2):c.4418A>G (p.Lys1473Arg) rs1219556604 0.00002
NM_000702.4(ATP1A2):c.2977C>T (p.Leu993Phe) rs1303848624 0.00002
NM_000726.5(CACNB4):c.571A>T (p.Thr191Ser) rs746415223 0.00002
NM_000747.3(CHRNB1):c.26T>C (p.Leu9Pro) rs1157224283 0.00002
NM_000784.4(CYP27A1):c.1148T>A (p.Met383Lys) rs539356203 0.00002
NM_000815.5(GABRD):c.1105G>A (p.Gly369Ser) rs759836961 0.00002
NM_001008212.2(OPTN):c.1330A>G (p.Met444Val) rs900961302 0.00002
NM_001009944.3(PKD1):c.3736G>A (p.Asp1246Asn) rs553360241 0.00002
NM_001009944.3(PKD1):c.4189G>A (p.Glu1397Lys) rs755462601 0.00002
NM_001009944.3(PKD1):c.7479C>G (p.Phe2493Leu) rs752349510 0.00002
NM_001009944.3(PKD1):c.9454C>T (p.Arg3152Trp) rs776866974 0.00002
NM_001039213.4(CEACAM16):c.707C>A (p.Thr236Lys) rs780505743 0.00002
NM_001042492.3(NF1):c.1955G>A (p.Arg652His) rs587778549 0.00002
NM_001042492.3(NF1):c.4958G>A (p.Arg1653His) rs763413441 0.00002
NM_001077365.2(POMT1):c.1729A>G (p.Ile577Val) rs749978093 0.00002
NM_001077365.2(POMT1):c.699+14T>A rs370038491 0.00002
NM_001077365.2(POMT1):c.817G>A (p.Asp273Asn) rs754611085 0.00002
NM_001079802.2(FKTN):c.188T>C (p.Met63Thr) rs772840681 0.00002
NM_001126108.2(SLC12A3):c.1049C>T (p.Ser350Leu) rs778585043 0.00002
NM_001126108.2(SLC12A3):c.760G>A (p.Val254Met) rs751725614 0.00002
NM_001127222.2(CACNA1A):c.1142G>A (p.Arg381Gln) rs772354342 0.00002
NM_001127222.2(CACNA1A):c.2729T>G (p.Leu910Arg) rs953766694 0.00002
NM_001127222.2(CACNA1A):c.3421G>A (p.Glu1141Lys) rs780535727 0.00002
NM_001127222.2(CACNA1A):c.5986A>G (p.Thr1996Ala) rs141963371 0.00002
NM_001127222.2(CACNA1A):c.6220G>A (p.Gly2074Ser) rs376910068 0.00002
NM_001127222.2(CACNA1A):c.6340-7C>A rs765609971 0.00002
NM_001127222.2(CACNA1A):c.6464G>T (p.Arg2155Leu) rs572722130 0.00002
NM_001127222.2(CACNA1A):c.6467G>A (p.Arg2156His) rs755749925 0.00002
NM_001127644.2(GABRA1):c.1234A>T (p.Thr412Ser) rs1229633395 0.00002
NM_001130987.2(DYSF):c.2821G>A (p.Gly941Ser) rs747089235 0.00002
NM_001130987.2(DYSF):c.6208C>G (p.Pro2070Ala) rs778611782 0.00002
NM_001130987.2(DYSF):c.785G>A (p.Arg262His) rs764849844 0.00002
NM_001136472.2(LITAF):c.478C>T (p.Arg160Cys) rs748017885 0.00002
NM_001145809.2(MYH14):c.1834G>A (p.Asp612Asn) rs571071269 0.00002
NM_001146262.4(SYT14):c.1724G>A (p.Ter575=) rs1482516941 0.00002
NM_001146262.4(SYT14):c.392C>G (p.Pro131Arg) rs1192775388 0.00002
NM_001164508.2(NEB):c.734G>T (p.Gly245Val) rs765569689 0.00002
NM_001166114.2(PNPLA6):c.649G>A (p.Gly217Ser) rs150620708 0.00002
NM_001195248.2(APTX):c.396T>A (p.Ala132=) rs753537901 0.00002
NM_001195248.2(APTX):c.710A>G (p.Asp237Gly) rs749338153 0.00002
NM_001195248.2(APTX):c.86G>A (p.Arg29His) rs766690500 0.00002
NM_001199107.2(TBC1D24):c.485A>G (p.Asn162Ser) rs772054145 0.00002
NM_001244008.2(KIF1A):c.2481C>T (p.Arg827=) rs371444142 0.00002
NM_001244008.2(KIF1A):c.2680G>A (p.Asp894Asn) rs1064796756 0.00002
NM_001244008.2(KIF1A):c.5015G>A (p.Arg1672Gln) rs761974755 0.00002
NM_001267550.2(TTN):c.102614G>A (p.Gly34205Asp) rs367926247 0.00002
NM_001267550.2(TTN):c.10270C>A (p.Gln3424Lys) rs370865998 0.00002
NM_001267550.2(TTN):c.11032C>G (p.Gln3678Glu) rs552438291 0.00002
NM_001267550.2(TTN):c.14873A>G (p.Tyr4958Cys) rs530572005 0.00002
NM_001267550.2(TTN):c.19855A>G (p.Lys6619Glu) rs1060500450 0.00002
NM_001267550.2(TTN):c.21907G>A (p.Glu7303Lys) rs774950387 0.00002
NM_001267550.2(TTN):c.26744C>G (p.Ala8915Gly) rs536974988 0.00002
NM_001267550.2(TTN):c.46564G>C (p.Gly15522Arg) rs750435043 0.00002
NM_001267550.2(TTN):c.52010G>A (p.Arg17337Gln) rs775700218 0.00002
NM_001267550.2(TTN):c.59876G>A (p.Arg19959His) rs748120315 0.00002
NM_001267550.2(TTN):c.60623T>C (p.Ile20208Thr) rs752768925 0.00002
NM_001267550.2(TTN):c.61825C>T (p.Arg20609Cys) rs786205389 0.00002
NM_001267550.2(TTN):c.64720G>A (p.Ala21574Thr) rs578085621 0.00002
NM_001267550.2(TTN):c.66902A>G (p.Asn22301Ser) rs772823241 0.00002
NM_001267550.2(TTN):c.67496G>A (p.Arg22499Gln) rs767993624 0.00002
NM_001267550.2(TTN):c.68503C>G (p.Pro22835Ala) rs750857565 0.00002
NM_001267550.2(TTN):c.68632G>A (p.Val22878Met) rs764263517 0.00002
NM_001267550.2(TTN):c.79487T>C (p.Ile26496Thr) rs749600987 0.00002
NM_001267550.2(TTN):c.85477A>G (p.Thr28493Ala) rs369907507 0.00002
NM_001267550.2(TTN):c.87253C>T (p.Leu29085Phe) rs376026291 0.00002
NM_001267550.2(TTN):c.91343G>A (p.Arg30448His) rs374474227 0.00002
NM_001267550.2(TTN):c.99415A>G (p.Lys33139Glu) rs779723670 0.00002
NM_001278116.2(L1CAM):c.3326G>A (p.Arg1109His) rs782420127 0.00002
NM_001289808.2(CRYAB):c.85G>C (p.Gly29Arg) rs148500053 0.00002
NM_001347721.2(DYRK1A):c.1705A>G (p.Thr569Ala) rs774075762 0.00002
NM_001365999.1(SZT2):c.1000G>T (p.Gly334Cys) rs918688605 0.00002
NM_001371279.1(REEP1):c.408T>A (p.Ala136=) rs368965566 0.00002
NM_001371596.2(MFSD8):c.1107G>C (p.Leu369Phe) rs747197852 0.00002
NM_001371727.1(GABRB2):c.1202A>G (p.His401Arg) rs1435021718 0.00002
NM_001378452.1(ITPR1):c.634G>A (p.Val212Ile) rs774735244 0.00002
NM_001458.5(FLNC):c.3499C>T (p.Arg1167Cys) rs766439553 0.00002
NM_001845.6(COL4A1):c.1056G>A (p.Pro352=) rs531373470 0.00002
NM_001848.3(COL6A1):c.352G>A (p.Asp118Asn) rs747665716 0.00002
NM_001961.4(EEF2):c.1702A>G (p.Ile568Val) rs773849734 0.00002
NM_002055.5(GFAP):c.626G>A (p.Arg209Gln) rs771699440 0.00002
NM_002087.4(GRN):c.836-3C>T rs771907059 0.00002
NM_002303.6(LEPR):c.1652T>A (p.Ile551Asn) rs755235061 0.00002
NM_002529.4(NTRK1):c.1037T>C (p.Leu346Pro) rs150651692 0.00002
NM_002693.3(POLG):c.1250+5G>T rs751221993 0.00002
NM_002693.3(POLG):c.1613A>C (p.Glu538Ala) rs767216577 0.00002
NM_002693.3(POLG):c.1735C>T (p.Arg579Trp) rs556925652 0.00002
NM_002693.3(POLG):c.1808T>C (p.Met603Thr) rs367610201 0.00002
NM_002693.3(POLG):c.1889A>G (p.Asn630Ser) rs796052905 0.00002
NM_002693.3(POLG):c.2368C>T (p.Arg790Cys) rs775168496 0.00002
NM_002693.3(POLG):c.2998G>A (p.Glu1000Lys) rs1412887168 0.00002
NM_002693.3(POLG):c.3266A>G (p.Gln1089Arg) rs369716454 0.00002
NM_002700.3(POU4F3):c.103T>C (p.Cys35Arg) rs147927112 0.00002
NM_002739.5(PRKCG):c.613C>T (p.Arg205Trp) rs367543208 0.00002
NM_003119.4(SPG7):c.1795C>T (p.Arg599Trp) rs764645740 0.00002
NM_003482.4(KMT2D):c.3238G>C (p.Glu1080Gln) rs762541995 0.00002
NM_003680.4(YARS1):c.874T>G (p.Tyr292Asp) rs753211165 0.00002
NM_003850.3(SUCLA2):c.943G>A (p.Asp315Asn) rs772228438 0.00002
NM_003900.5(SQSTM1):c.1A>G (p.Met1Val) rs1302810798 0.00002
NM_003900.5(SQSTM1):c.562G>A (p.Val188Met) rs371832577 0.00002
NM_004006.3(DMD):c.2311G>C (p.Ala771Pro) rs776275581 0.00002
NM_004006.3(DMD):c.4497G>A (p.Gln1499=) rs1417062461 0.00002
NM_004006.3(DMD):c.728T>C (p.Val243Ala) rs753509616 0.00002
NM_004006.3(DMD):c.8015G>A (p.Ser2672Asn) rs771081514 0.00002
NM_004082.5(DCTN1):c.2290G>A (p.Val764Ile) rs753618444 0.00002
NM_004172.5(SLC1A3):c.1259A>G (p.Glu420Gly) rs745942837 0.00002
NM_004172.5(SLC1A3):c.1408G>A (p.Ala470Thr) rs750317354 0.00002
NM_004320.6(ATP2A1):c.2455C>T (p.Arg819Cys) rs768177407 0.00002
NM_004320.6(ATP2A1):c.971G>A (p.Arg324His) rs751166692 0.00002
NM_004393.6(DAG1):c.1210A>G (p.Thr404Ala) rs769229834 0.00002
NM_004733.4(SLC33A1):c.280A>T (p.Ser94Cys) rs780342840 0.00002
NM_004820.5(CYP7B1):c.147A>G (p.Ile49Met) rs774259036 0.00002
NM_004960.4(FUS):c.317C>T (p.Pro106Leu) rs374191107 0.00002
NM_004960.4(FUS):c.821G>A (p.Arg274His) rs1415220872 0.00002
NM_004977.3(KCNC3):c.1844C>T (p.Ala615Val) rs1432486680 0.00002
NM_004984.4(KIF5A):c.217+5T>C rs1321172885 0.00002
NM_004984.4(KIF5A):c.2282C>G (p.Thr761Ser) rs1271325672 0.00002
NM_004984.4(KIF5A):c.2881G>A (p.Ala961Thr) rs746095110 0.00002
NM_005045.4(RELN):c.3287A>G (p.Gln1096Arg) rs780325204 0.00002
NM_005506.4(SCARB2):c.1105A>G (p.Ile369Val) rs1311037416 0.00002
NM_005529.7(HSPG2):c.10085G>A (p.Arg3362His) rs748180505 0.00002
NM_005529.7(HSPG2):c.10460C>A (p.Pro3487His) rs144411636 0.00002
NM_005529.7(HSPG2):c.12116C>T (p.Ser4039Leu) rs1378916104 0.00002
NM_005529.7(HSPG2):c.12682G>A (p.Glu4228Lys) rs138672955 0.00002
NM_005529.7(HSPG2):c.5089C>T (p.Arg1697Trp) rs754726732 0.00002
NM_005529.7(HSPG2):c.5801G>A (p.Arg1934Gln) rs756689841 0.00002
NM_005529.7(HSPG2):c.662G>A (p.Arg221Gln) rs539990898 0.00002
NM_005529.7(HSPG2):c.7985C>A (p.Thr2662Lys) rs374346089 0.00002
NM_005591.4(MRE11):c.1139G>A (p.Arg380His) rs587781646 0.00002
NM_005591.4(MRE11):c.1163G>A (p.Arg388Gln) rs587780134 0.00002
NM_005591.4(MRE11):c.259C>T (p.Arg87Trp) rs758112386 0.00002
NM_005912.3(MC4R):c.983T>A (p.Leu328Ter) rs751914635 0.00002
NM_006009.4(TUBA1A):c.859T>A (p.Ser287Thr) rs150978489 0.00002
NM_006096.4(NDRG1):c.1057C>T (p.Arg353Cys) rs777244818 0.00002
NM_006493.4(CLN5):c.526A>G (p.Lys176Glu) rs142870036 0.00002
NM_006790.3(MYOT):c.529C>G (p.Gln177Glu) rs140135928 0.00002
NM_006796.3(AFG3L2):c.433A>T (p.Met145Leu) rs200249258 0.00002
NM_006922.4(SCN3A):c.5699A>G (p.Glu1900Gly) rs747096151 0.00002
NM_006946.4(SPTBN2):c.1266G>C (p.Lys422Asn) rs770892589 0.00002
NM_006946.4(SPTBN2):c.1501C>T (p.Arg501Cys) rs780836225 0.00002
NM_006946.4(SPTBN2):c.4465G>A (p.Glu1489Lys) rs377750743 0.00002
NM_006946.4(SPTBN2):c.4593+3G>A rs915452792 0.00002
NM_006946.4(SPTBN2):c.5137C>T (p.Arg1713Cys) rs754809056 0.00002
NM_006946.4(SPTBN2):c.5404G>A (p.Glu1802Lys) rs149317715 0.00002
NM_006946.4(SPTBN2):c.6536G>A (p.Arg2179Gln) rs759206588 0.00002
NM_006946.4(SPTBN2):c.7039C>T (p.Arg2347Trp) rs746195427 0.00002
NM_012210.4(TRIM32):c.907G>A (p.Val303Met) rs144532174 0.00002
NM_013275.6(ANKRD11):c.3343A>G (p.Ile1115Val) rs753868881 0.00002
NM_013382.7(POMT2):c.1654-8T>G rs780532724 0.00002
NM_013382.7(POMT2):c.320C>T (p.Pro107Leu) rs398124264 0.00002
NM_014159.7(SETD2):c.3136A>G (p.Asn1046Asp) rs199890800 0.00002
NM_014363.6(SACS):c.10622A>G (p.Tyr3541Cys) rs747013127 0.00002
NM_014363.6(SACS):c.11249A>G (p.Asn3750Ser) rs376188585 0.00002
NM_014363.6(SACS):c.11302A>G (p.Thr3768Ala) rs774463808 0.00002
NM_014363.6(SACS):c.11380G>T (p.Val3794Phe) rs753844954 0.00002
NM_014363.6(SACS):c.11776G>A (p.Asp3926Asn) rs756252903 0.00002
NM_014363.6(SACS):c.12130G>C (p.Gly4044Arg) rs753511073 0.00002
NM_014363.6(SACS):c.1310C>T (p.Thr437Met) rs199657817 0.00002
NM_014363.6(SACS):c.2686C>T (p.Leu896Phe) rs760556327 0.00002
NM_014363.6(SACS):c.494C>T (p.Thr165Ile) rs1419027987 0.00002
NM_014363.6(SACS):c.5630G>A (p.Arg1877Gln) rs772866081 0.00002
NM_014363.6(SACS):c.6518T>C (p.Ile2173Thr) rs368624188 0.00002
NM_014363.6(SACS):c.7171G>A (p.Val2391Met) rs760087813 0.00002
NM_014845.6(FIG4):c.2690T>C (p.Met897Thr) rs764958115 0.00002
NM_014874.4(MFN2):c.1402C>T (p.Arg468Cys) rs746852710 0.00002
NM_015046.7(SETX):c.1858A>G (p.Asn620Asp) rs777081940 0.00002
NM_015046.7(SETX):c.2101G>A (p.Ala701Thr) rs769620847 0.00002
NM_015046.7(SETX):c.4180T>C (p.Ser1394Pro) rs780078856 0.00002
NM_015046.7(SETX):c.4525T>C (p.Cys1509Arg) rs543647990 0.00002
NM_015046.7(SETX):c.4672A>G (p.Thr1558Ala) rs764920626 0.00002
NM_015046.7(SETX):c.5278G>A (p.Ala1760Thr) rs764316153 0.00002
NM_015046.7(SETX):c.5403A>C (p.Lys1801Asn) rs762071010 0.00002
NM_015046.7(SETX):c.5552G>A (p.Arg1851His) rs137978070 0.00002
NM_015046.7(SETX):c.6029A>G (p.Asn2010Ser) rs759806045 0.00002
NM_015046.7(SETX):c.6356T>C (p.Val2119Ala) rs781741533 0.00002
NM_015346.4(ZFYVE26):c.1462C>T (p.His488Tyr) rs145455748 0.00002
NM_015915.5(ATL1):c.686C>G (p.Ala229Gly) rs1454376300 0.00002
NM_016239.4(MYO15A):c.9593T>C (p.Ile3198Thr) rs369742063 0.00002
NM_016341.4(PLCE1):c.599C>T (p.Thr200Ile) rs777436865 0.00002
NM_017668.3(NDE1):c.823C>T (p.Arg275Trp) rs769264617 0.00002
NM_018075.5(ANO10):c.224C>T (p.Ser75Phe) rs769095178 0.00002
NM_018109.4(MTPAP):c.818A>G (p.Asn273Ser) rs763949748 0.00002
NM_018941.4(CLN8):c.161G>A (p.Arg54His) rs372268977 0.00002
NM_020247.5(COQ8A):c.1174G>A (p.Glu392Lys) rs760476900 0.00002
NM_020247.5(COQ8A):c.1189G>A (p.Val397Met) rs777934964 0.00002
NM_020247.5(COQ8A):c.1812G>A (p.Glu604=) rs887556564 0.00002
NM_020247.5(COQ8A):c.853+10C>T rs367945973 0.00002
NM_020247.5(COQ8A):c.911C>T (p.Ala304Val) rs748118737 0.00002
NM_020435.4(GJC2):c.377C>T (p.Ala126Val) rs2034711645 0.00002
NM_020919.4(ALS2):c.1558C>T (p.Leu520Phe) rs569869571 0.00002
NM_020919.4(ALS2):c.2326A>G (p.Ser776Gly) rs778099581 0.00002
NM_021098.3(CACNA1H):c.3800G>A (p.Arg1267Gln) rs557125328 0.00002
NM_021625.5(TRPV4):c.191G>A (p.Arg64Gln) rs1199457372 0.00002
NM_021625.5(TRPV4):c.2585G>A (p.Arg862His) rs371989034 0.00002
NM_021625.5(TRPV4):c.523A>G (p.Thr175Ala) rs146304351 0.00002
NM_021625.5(TRPV4):c.743G>A (p.Arg248His) rs759859968 0.00002
NM_021971.4(GMPPB):c.931C>T (p.Arg311Cys) rs371188899 0.00002
NM_022089.4(ATP13A2):c.220C>T (p.Arg74Trp) rs753087058 0.00002
NM_022124.6(CDH23):c.7706G>A (p.Arg2569Gln) rs769627991 0.00002
NM_022464.5(SIL1):c.288G>T (p.Gln96His) rs368830878 0.00002
NM_024306.5(FA2H):c.35C>T (p.Ser12Leu) rs1245153953 0.00002
NM_024577.4(SH3TC2):c.2671G>A (p.Ala891Thr) rs779223727 0.00002
NM_024577.4(SH3TC2):c.3190G>A (p.Glu1064Lys) rs756108498 0.00002
NM_024589.3(ROGDI):c.829G>A (p.Val277Met) rs759234056 0.00002
NM_024665.7(TBL1XR1):c.353C>T (p.Ala118Val) rs749382891 0.00002
NM_024678.6(NARS2):c.151C>T (p.Arg51Cys) rs367584549 0.00002
NM_024884.3(L2HGDH):c.752G>A (p.Arg251Gln) rs767037296 0.00002
NM_025137.4(SPG11):c.2561C>T (p.Ala854Val) rs758923470 0.00002
NM_025137.4(SPG11):c.6719G>A (p.Arg2240His) rs766384717 0.00002
NM_025137.4(SPG11):c.7013C>T (p.Ala2338Val) rs368902742 0.00002
NM_030962.4(SBF2):c.3109C>T (p.Arg1037Cys) rs770723203 0.00002
NM_030962.4(SBF2):c.4394G>A (p.Gly1465Glu) rs762165359 0.00002
NM_032409.3(PINK1):c.155C>T (p.Pro52Leu) rs776293086 0.00002
NM_032409.3(PINK1):c.935G>A (p.Arg312Gln) rs202128685 0.00002
NM_033305.3(VPS13A):c.8830A>G (p.Lys2944Glu) rs776346441 0.00002
NM_058246.4(DNAJB6):c.791G>A (p.Arg264Gln) rs969715884 0.00002
NM_130837.3(OPA1):c.706C>A (p.Gln236Lys) rs779375399 0.00002
NM_144498.4(OSBPL2):c.*4C>T rs371365664 0.00002
NM_144599.5(NIPA1):c.871T>C (p.Phe291Leu) rs779693743 0.00002
NM_145207.3(AFG2A):c.1498A>G (p.Asn500Asp) rs770721082 0.00002
NM_152564.5(VPS13B):c.7579G>A (p.Ala2527Thr) rs369062407 0.00002
NM_153026.3(PRICKLE1):c.626G>A (p.Arg209His) rs758400992 0.00002
NM_175914.5(HNF4A):c.1018G>A (p.Gly340Ser) rs555432665 0.00002
NM_176787.5(PIGN):c.1423A>G (p.Lys475Glu) rs375746864 0.00002
NM_176787.5(PIGN):c.2486C>T (p.Ala829Val) rs375027313 0.00002
NM_181882.3(PRX):c.4117C>T (p.Arg1373Trp) rs766729202 0.00002
NM_182961.4(SYNE1):c.10136G>A (p.Arg3379His) rs764835758 0.00002
NM_182961.4(SYNE1):c.10474C>T (p.Arg3492Cys) rs531503159 0.00002
NM_182961.4(SYNE1):c.11002G>A (p.Glu3668Lys) rs767544504 0.00002
NM_182961.4(SYNE1):c.1126G>A (p.Gly376Ser) rs757408388 0.00002
NM_182961.4(SYNE1):c.114C>T (p.Asn38=) rs150562892 0.00002
NM_182961.4(SYNE1):c.13105G>A (p.Glu4369Lys) rs777182389 0.00002
NM_182961.4(SYNE1):c.13657C>T (p.Arg4553Trp) rs762294604 0.00002
NM_182961.4(SYNE1):c.14577G>C (p.Gln4859His) rs369433602 0.00002
NM_182961.4(SYNE1):c.1464-9T>C rs757728476 0.00002
NM_182961.4(SYNE1):c.14951G>C (p.Arg4984Thr) rs762212036 0.00002
NM_182961.4(SYNE1):c.16553G>A (p.Arg5518Gln) rs150604289 0.00002
NM_182961.4(SYNE1):c.17071C>T (p.Leu5691Phe) rs767705064 0.00002
NM_182961.4(SYNE1):c.18106G>A (p.Asp6036Asn) rs147615757 0.00002
NM_182961.4(SYNE1):c.18634G>A (p.Val6212Ile) rs138258566 0.00002
NM_182961.4(SYNE1):c.19276A>C (p.Ile6426Leu) rs773315032 0.00002
NM_182961.4(SYNE1):c.22840T>A (p.Phe7614Ile) rs138581943 0.00002
NM_182961.4(SYNE1):c.23358T>A (p.Ser7786Arg) rs748682472 0.00002
NM_182961.4(SYNE1):c.24955C>T (p.Arg8319Trp) rs201109440 0.00002
NM_182961.4(SYNE1):c.25305G>T (p.Met8435Ile) rs758254064 0.00002
NM_182961.4(SYNE1):c.25567C>T (p.Arg8523Cys) rs765027754 0.00002
NM_182961.4(SYNE1):c.275T>C (p.Ile92Thr) rs1007703591 0.00002
NM_182961.4(SYNE1):c.4792C>T (p.Leu1598Phe) rs151002514 0.00002
NM_182961.4(SYNE1):c.5710T>A (p.Leu1904Met) rs372724272 0.00002
NM_182961.4(SYNE1):c.6086A>C (p.Asn2029Thr) rs201522015 0.00002
NM_182961.4(SYNE1):c.6117A>C (p.Lys2039Asn) rs1449605743 0.00002
NM_182961.4(SYNE1):c.6319A>G (p.Ser2107Gly) rs368938119 0.00002
NM_182961.4(SYNE1):c.6880G>A (p.Val2294Ile) rs763813886 0.00002
NM_182961.4(SYNE1):c.7279G>A (p.Ala2427Thr) rs763152677 0.00002
NM_182961.4(SYNE1):c.7988G>T (p.Arg2663Leu) rs370644295 0.00002
NM_198576.4(AGRN):c.1534G>A (p.Ala512Thr) rs780205618 0.00002
NM_198578.4(LRRK2):c.1132C>T (p.Leu378Phe) rs200870486 0.00002
NM_198994.3(TGM6):c.1997C>T (p.Ala666Val) rs535889149 0.00002
NM_201378.4(PLEC):c.71-11534C>T rs375696082 0.00002
NM_201384.3(PLEC):c.10207C>T (p.Arg3403Trp) rs542488020 0.00002
NM_201384.3(PLEC):c.12401C>T (p.Ser4134Phe) rs782074353 0.00002
NM_201384.3(PLEC):c.12721G>A (p.Gly4241Ser) rs782789434 0.00002
NM_201384.3(PLEC):c.5594G>A (p.Arg1865His) rs569571032 0.00002
NM_201384.3(PLEC):c.6875G>A (p.Arg2292Gln) rs782779625 0.00002
NM_201384.3(PLEC):c.718+5G>A rs369126676 0.00002
NM_201384.3(PLEC):c.7240G>A (p.Gly2414Ser) rs782229968 0.00002
NM_201384.3(PLEC):c.8542G>A (p.Asp2848Asn) rs781793289 0.00002
NM_201384.3(PLEC):c.9823C>T (p.Arg3275Cys) rs782733657 0.00002
NM_201525.4(ADGRG1):c.2057G>A (p.Arg686His) rs768017345 0.00002
NM_201525.4(ADGRG1):c.490C>A (p.Pro164Thr) rs781499938 0.00002
NM_000023.4(SGCA):c.1015G>A (p.Gly339Arg) rs540254057 0.00001
NM_000023.4(SGCA):c.592A>G (p.Ile198Val) rs375463037 0.00001
NM_000051.4(ATM):c.1021G>A (p.Val341Ile) rs200601781 0.00001
NM_000051.4(ATM):c.1335A>G (p.Gln445=) rs1385656085 0.00001
NM_000051.4(ATM):c.1352G>A (p.Arg451His) rs554805703 0.00001
NM_000051.4(ATM):c.1444A>C (p.Lys482Gln) rs202173660 0.00001
NM_000051.4(ATM):c.1505C>G (p.Ala502Gly) rs766595156 0.00001
NM_000051.4(ATM):c.1741T>G (p.Leu581Val) rs876659822 0.00001
NM_000051.4(ATM):c.2062G>A (p.Glu688Lys) rs769338089 0.00001
NM_000051.4(ATM):c.2269G>A (p.Gly757Arg) rs587779819 0.00001
NM_000051.4(ATM):c.2333A>G (p.Asn778Ser) rs587779820 0.00001
NM_000051.4(ATM):c.241A>G (p.Asn81Asp) rs758962678 0.00001
NM_000051.4(ATM):c.2501A>T (p.Glu834Val) rs730881349 0.00001
NM_000051.4(ATM):c.3299C>T (p.Thr1100Met) rs189445371 0.00001
NM_000051.4(ATM):c.3505G>A (p.Glu1169Lys) rs200765255 0.00001
NM_000051.4(ATM):c.4153G>T (p.Val1385Leu) rs1064794484 0.00001
NM_000051.4(ATM):c.4420C>G (p.His1474Asp) rs587779840 0.00001
NM_000051.4(ATM):c.4802G>A (p.Ser1601Asn) rs587782506 0.00001
NM_000051.4(ATM):c.5488A>G (p.Met1830Val) rs587781622 0.00001
NM_000051.4(ATM):c.5633C>T (p.Ser1878Leu) rs758908522 0.00001
NM_000051.4(ATM):c.5892G>C (p.Lys1964Asn) rs786202728 0.00001
NM_000051.4(ATM):c.6154G>A (p.Glu2052Lys) rs202206540 0.00001
NM_000051.4(ATM):c.6536T>C (p.Ile2179Thr) rs878853532 0.00001
NM_000051.4(ATM):c.6807G>A (p.Gln2269=) rs587780638 0.00001
NM_000051.4(ATM):c.6975+5G>T rs575354684 0.00001
NM_000051.4(ATM):c.7382G>A (p.Arg2461His) rs768461085 0.00001
NM_000051.4(ATM):c.7499T>C (p.Val2500Ala) rs779810877 0.00001
NM_000051.4(ATM):c.7502A>G (p.Asn2501Ser) rs531617441 0.00001
NM_000051.4(ATM):c.8314G>A (p.Gly2772Arg) rs1064794239 0.00001
NM_000051.4(ATM):c.8617G>A (p.Val2873Ile) rs730881327 0.00001
NM_000051.4(ATM):c.9041A>G (p.Gln3014Arg) rs1064793579 0.00001
NM_000051.4(ATM):c.977T>C (p.Ile326Thr) rs768720856 0.00001
NM_000070.3(CAPN3):c.1092G>T (p.Glu364Asp) rs2053635682 0.00001
NM_000070.3(CAPN3):c.1257T>G (p.Asp419Glu) rs139836397 0.00001
NM_000070.3(CAPN3):c.371G>C (p.Gly124Ala) rs587780291 0.00001
NM_000070.3(CAPN3):c.964T>C (p.Tyr322His) rs149591108 0.00001
NM_000083.3(CLCN1):c.1061T>G (p.Ile354Ser) rs1682810737 0.00001
NM_000083.3(CLCN1):c.166G>A (p.Val56Ile) rs202120426 0.00001
NM_000083.3(CLCN1):c.1974G>A (p.Gln658=) rs1271606004 0.00001
NM_000083.3(CLCN1):c.2284+3G>A rs755127390 0.00001
NM_000083.3(CLCN1):c.2365-3T>C rs770158484 0.00001
NM_000083.3(CLCN1):c.2663G>A (p.Arg888Gln) rs771890096 0.00001
NM_000083.3(CLCN1):c.2789C>A (p.Pro930His) rs147068247 0.00001
NM_000083.3(CLCN1):c.563-8G>A rs763640926 0.00001
NM_000083.3(CLCN1):c.823G>A (p.Val275Ile) rs759703560 0.00001
NM_000083.3(CLCN1):c.959C>T (p.Ala320Val) rs1478129213 0.00001
NM_000088.4(COL1A1):c.3842G>T (p.Gly1281Val) rs918420911 0.00001
NM_000089.4(COL1A2):c.1159G>C (p.Ala387Pro) rs972825197 0.00001
NM_000092.5(COL4A4):c.1203A>G (p.Ala401=) rs778832152 0.00001
NM_000092.5(COL4A4):c.3771G>A (p.Pro1257=) rs1384523881 0.00001
NM_000098.3(CPT2):c.130C>T (p.His44Tyr) rs995114769 0.00001
NM_000110.4(DPYD):c.2758A>C (p.Thr920Pro) rs886046575 0.00001
NM_000144.5(FXN):c.163G>A (p.Ala55Thr) rs1316008371 0.00001
NM_000144.5(FXN):c.81C>T (p.Val27=) rs1456280969 0.00001
NM_000161.3(GCH1):c.22G>A (p.Ala8Thr) rs529381971 0.00001
NM_000162.5(GCK):c.1364T>A (p.Val455Glu) rs753795627 0.00001
NM_000162.5(GCK):c.1386G>T (p.Met462Ile) rs193922285 0.00001
NM_000162.5(GCK):c.370G>A (p.Asp124Asn) rs759072800 0.00001
NM_000162.5(GCK):c.823C>T (p.Arg275Cys) rs556436603 0.00001
NM_000162.5(GCK):c.951C>G (p.His317Gln) rs1379908545 0.00001
NM_000166.6(GJB1):c.793C>T (p.Arg265Cys) rs1324941945 0.00001
NM_000209.4(PDX1):c.110A>T (p.Tyr37Phe) rs1242190304 0.00001
NM_000209.4(PDX1):c.259C>G (p.Pro87Ala) rs769974289 0.00001
NM_000217.3(KCNA1):c.12G>T (p.Met4Ile) rs773128496 0.00001
NM_000217.3(KCNA1):c.1311T>G (p.Ser437=) rs1565433583 0.00001
NM_000217.3(KCNA1):c.1346T>C (p.Met449Thr) rs1481224137 0.00001
NM_000217.3(KCNA1):c.475T>C (p.Tyr159His) rs764645312 0.00001
NM_000231.3(SGCG):c.100C>T (p.Arg34Cys) rs747549369 0.00001
NM_000231.3(SGCG):c.230G>C (p.Gly77Ala) rs886043950 0.00001
NM_000232.5(SGCB):c.204G>T (p.Val68=) rs1560568801 0.00001
NM_000238.4(KCNH2):c.1319C>T (p.Pro440Leu) rs199473509 0.00001
NM_000238.4(KCNH2):c.3215C>T (p.Thr1072Met) rs781624566 0.00001
NM_000245.4(MET):c.1477G>C (p.Glu493Gln) rs965319455 0.00001
NM_000256.3(MYBPC3):c.1219G>A (p.Gly407Ser) rs727505266 0.00001
NM_000260.4(MYO7A):c.2122A>G (p.Met708Val) rs397516293 0.00001
NM_000284.4(PDHA1):c.661A>G (p.Ile221Val) rs1410654779 0.00001
NM_000284.4(PDHA1):c.900-2dup rs779132922 0.00001
NM_000287.4(PEX6):c.2347G>A (p.Glu783Lys) rs757161798 0.00001
NM_000297.4(PKD2):c.1093G>A (p.Ala365Thr) rs926203174 0.00001
NM_000297.4(PKD2):c.1724A>G (p.Lys575Arg) rs181037821 0.00001
NM_000297.4(PKD2):c.59C>T (p.Ala20Val) rs1213258236 0.00001
NM_000304.4(PMP22):c.332T>C (p.Met111Thr) rs759808649 0.00001
NM_000330.4(RS1):c.185-3054G>A rs1294833087 0.00001
NM_000330.4(RS1):c.185-3146G>A rs1398393336 0.00001
NM_000334.4(SCN4A):c.2083A>G (p.Asn695Asp) rs1327920743 0.00001
NM_000334.4(SCN4A):c.3829A>T (p.Ile1277Phe) rs776750130 0.00001
NM_000334.4(SCN4A):c.4390G>A (p.Gly1464Arg) rs150423825 0.00001
NM_000334.4(SCN4A):c.4420G>A (p.Ala1474Thr) rs778417596 0.00001
NM_000334.4(SCN4A):c.4484T>C (p.Ile1495Thr) rs1318966106 0.00001
NM_000334.4(SCN4A):c.4791C>G (p.Ile1597Met) rs1567816199 0.00001
NM_000334.4(SCN4A):c.5492T>A (p.Val1831Asp) rs1300925199 0.00001
NM_000335.5(SCN5A):c.4744C>T (p.Arg1582Cys) rs45514691 0.00001
NM_000336.3(SCNN1B):c.187G>A (p.Val63Ile) rs1039766661 0.00001
NM_000338.3(SLC12A1):c.3160G>A (p.Val1054Ile) rs767407815 0.00001
NM_000344.4(SMN1):c.835-3C>T rs772466166 0.00001
NM_000352.6(ABCC8):c.170A>G (p.Lys57Arg) rs762919223 0.00001
NM_000352.6(ABCC8):c.1973G>T (p.Gly658Val) rs149400972 0.00001
NM_000352.6(ABCC8):c.3784G>A (p.Ala1262Thr) rs1266053680 0.00001
NM_000352.6(ABCC8):c.3989-10C>T rs373737642 0.00001
NM_000352.6(ABCC8):c.4607C>T (p.Ala1536Val) rs745918247 0.00001
NM_000370.3(TTPA):c.272G>C (p.Ser91Thr) rs186021365 0.00001
NM_000370.3(TTPA):c.401G>A (p.Arg134Gln) rs748038814 0.00001
NM_000370.3(TTPA):c.6A>T (p.Ala2=) rs1805748956 0.00001
NM_000370.3(TTPA):c.752C>T (p.Ser251Phe) rs756313678 0.00001
NM_000371.4(TTR):c.88T>C (p.Cys30Arg) rs121918083 0.00001
NM_000383.4(AIRE):c.22C>T (p.Arg8Cys) rs1231469574 0.00001
NM_000388.4(CASR):c.106G>A (p.Gly36Arg) rs193922420 0.00001
NM_000388.4(CASR):c.2314G>A (p.Ala772Thr) rs199508583 0.00001
NM_000388.4(CASR):c.2915C>T (p.Thr972Met) rs200620134 0.00001
NM_000399.5(EGR2):c.670C>A (p.Pro224Thr) rs758869303 0.00001
NM_000414.4(HSD17B4):c.571A>G (p.Thr191Ala) rs1397379413 0.00001
NM_000426.4(LAMA2):c.1262C>A (p.Ser421Tyr) rs775603569 0.00001
NM_000426.4(LAMA2):c.1681T>G (p.Leu561Val) rs765515681 0.00001
NM_000426.4(LAMA2):c.2376C>T (p.Phe792=) rs150046431 0.00001
NM_000426.4(LAMA2):c.5899G>T (p.Ala1967Ser) rs762129616 0.00001
NM_000426.4(LAMA2):c.6079C>A (p.Pro2027Thr) rs374006928 0.00001
NM_000435.3(NOTCH3):c.133G>C (p.Asp45His) rs142031490 0.00001
NM_000435.3(NOTCH3):c.1522G>A (p.Val508Met) rs755398328 0.00001
NM_000435.3(NOTCH3):c.154G>A (p.Gly52Arg) rs148166997 0.00001
NM_000435.3(NOTCH3):c.1780G>A (p.Gly594Ser) rs955926125 0.00001
NM_000435.3(NOTCH3):c.2054C>T (p.Pro685Leu) rs768867865 0.00001
NM_000435.3(NOTCH3):c.2119G>A (p.Gly707Ser) rs1378515982 0.00001
NM_000435.3(NOTCH3):c.2137C>T (p.Pro713Ser) rs147855256 0.00001
NM_000435.3(NOTCH3):c.2253C>T (p.Ser751=) rs1039939758 0.00001
NM_000435.3(NOTCH3):c.2887G>A (p.Ala963Thr) rs199978689 0.00001
NM_000435.3(NOTCH3):c.2890G>C (p.Asp964His) rs201336164 0.00001
NM_000435.3(NOTCH3):c.305C>T (p.Ala102Val) rs1487780762 0.00001
NM_000435.3(NOTCH3):c.3293C>A (p.Thr1098Asn) rs182238142 0.00001
NM_000435.3(NOTCH3):c.4112G>T (p.Arg1371Leu) rs1177188516 0.00001
NM_000435.3(NOTCH3):c.4406C>G (p.Pro1469Arg) rs779132149 0.00001
NM_000435.3(NOTCH3):c.5006G>A (p.Arg1669His) rs1184522923 0.00001
NM_000435.3(NOTCH3):c.5281C>T (p.Arg1761Cys) rs771814027 0.00001
NM_000435.3(NOTCH3):c.5398G>T (p.Gly1800Trp) rs1012192046 0.00001
NM_000435.3(NOTCH3):c.5617C>T (p.Arg1873Cys) rs749429793 0.00001
NM_000435.3(NOTCH3):c.6101C>G (p.Pro2034Arg) rs751050359 0.00001
NM_000435.3(NOTCH3):c.6242G>T (p.Gly2081Val) rs141231747 0.00001
NM_000435.3(NOTCH3):c.6255G>A (p.Thr2085=) rs967649457 0.00001
NM_000435.3(NOTCH3):c.6395C>T (p.Ala2132Val) rs1300230282 0.00001
NM_000435.3(NOTCH3):c.6440G>A (p.Gly2147Asp) rs897705605 0.00001
NM_000435.3(NOTCH3):c.6665C>T (p.Pro2222Leu) rs1489373939 0.00001
NM_000444.6(PHEX):c.827G>A (p.Arg276Lys) rs776124957 0.00001
NM_000447.3(PSEN2):c.89C>T (p.Ser30Phe) rs200037771 0.00001
NM_000451.4(SHOX):c.*3C>T rs891162345 0.00001
NM_000451.4(SHOX):c.379G>C (p.Glu127Gln) rs1318947960 0.00001
NM_000451.4(SHOX):c.528G>T (p.Glu176Asp) rs778921118 0.00001
NM_000451.4(SHOX):c.792C>G (p.Ala264=) rs1432441801 0.00001
NM_000454.5(SOD1):c.193T>C (p.Phe65Leu) rs1030039318 0.00001
NM_000458.4(HNF1B):c.1117G>A (p.Ala373Thr) rs759270956 0.00001
NM_000458.4(HNF1B):c.1243A>T (p.Thr415Ser) rs765654692 0.00001
NM_000458.4(HNF1B):c.146C>G (p.Ser49Cys) rs770078634 0.00001
NM_000466.3(PEX1):c.2363T>C (p.Val788Ala) rs886062505 0.00001
NM_000481.4(AMT):c.638T>G (p.Phe213Cys) rs963795935 0.00001
NM_000481.4(AMT):c.830T>C (p.Ile277Thr) rs1052014497 0.00001
NM_000484.4(APP):c.1138G>A (p.Glu380Lys) rs755703063 0.00001
NM_000487.6(ARSA):c.847G>T (p.Asp283Tyr) rs199476386 0.00001
NM_000497.4(CYP11B1):c.338T>G (p.Leu113Arg) rs1258403960 0.00001
NM_000497.4(CYP11B1):c.422G>A (p.Arg141Gln) rs267601810 0.00001
NM_000497.4(CYP11B1):c.476C>T (p.Pro159Leu) rs370266763 0.00001
NM_000500.9(CYP21A2):c.49C>T (p.Arg17Cys) rs757608533 0.00001
NM_000525.4(KCNJ11):c.874G>A (p.Glu292Lys) rs1174593640 0.00001
NM_000530.8(MPZ):c.73T>A (p.Ser25Thr) rs997633417 0.00001
NM_000540.3(RYR1):c.6311G>A (p.Arg2104His) rs745319881 0.00001
NM_000540.3(RYR1):c.7072A>C (p.Ile2358Leu) rs759306349 0.00001
NM_000540.3(RYR1):c.9149T>A (p.Val3050Asp) rs1157851269 0.00001
NM_000540.3(RYR1):c.9413C>T (p.Pro3138Leu) rs762652935 0.00001
NM_000540.3(RYR1):c.9605C>T (p.Pro3202Leu) rs754002399 0.00001
NM_000540.3(RYR1):c.9623C>T (p.Pro3208Leu) rs758210285 0.00001
NM_000545.8(HNF1A):c.1637A>C (p.Asp546Ala) rs984428675 0.00001
NM_000545.8(HNF1A):c.1699G>A (p.Val567Ile) rs751368921 0.00001
NM_000545.8(HNF1A):c.1769T>C (p.Val590Ala) rs928744634 0.00001
NM_000545.8(HNF1A):c.527-19C>T rs563495098 0.00001
NM_000545.8(HNF1A):c.626C>A (p.Ala209Glu) rs1286294151 0.00001
NM_000545.8(HNF1A):c.901G>A (p.Ala301Thr) rs555681479 0.00001
NM_000548.5(TSC2):c.1099C>T (p.Arg367Trp) rs757844109 0.00001
NM_000548.5(TSC2):c.1622C>G (p.Pro541Arg) rs752953762 0.00001
NM_000548.5(TSC2):c.170G>A (p.Arg57His) rs397514949 0.00001
NM_000548.5(TSC2):c.4738C>T (p.Arg1580Trp) rs777592623 0.00001
NM_000548.5(TSC2):c.997G>T (p.Val333Leu) rs1336741146 0.00001
NM_000702.4(ATP1A2):c.2123T>C (p.Ile708Thr) rs1341609289 0.00001
NM_000702.4(ATP1A2):c.2266G>A (p.Val756Ile) rs777895941 0.00001
NM_000722.4(CACNA2D1):c.879+9833A>G rs891611532 0.00001
NM_000726.5(CACNB4):c.1504C>G (p.Pro502Ala) rs777642049 0.00001
NM_000726.5(CACNB4):c.1550G>A (p.Arg517Gln) rs760115429 0.00001
NM_000726.5(CACNB4):c.280G>A (p.Ala94Thr) rs1345049325 0.00001
NM_000726.5(CACNB4):c.331G>A (p.Val111Met) rs764764389 0.00001
NM_000744.7(CHRNA4):c.1721T>C (p.Ile574Thr) rs139657121 0.00001
NM_000744.7(CHRNA4):c.326C>T (p.Thr109Ile) rs768527293 0.00001
NM_000744.7(CHRNA4):c.383+1G>A rs139129197 0.00001
NM_000748.3(CHRNB2):c.515A>G (p.Lys172Arg) rs1330894666 0.00001
NM_000748.3(CHRNB2):c.691C>T (p.Arg231Cys) rs752986234 0.00001
NM_001003800.2(BICD2):c.1790G>A (p.Arg597Gln) rs1412401979 0.00001
NM_001005361.3(DNM2):c.2035A>G (p.Ile679Val) rs1381561772 0.00001
NM_001005361.3(DNM2):c.2593G>A (p.Glu865Lys) rs746818628 0.00001
NM_001005361.3(DNM2):c.944A>G (p.Lys315Arg) rs148105340 0.00001
NM_001008212.2(OPTN):c.628G>A (p.Ala210Thr) rs778855963 0.00001
NM_001008212.2(OPTN):c.682C>T (p.His228Tyr) rs775448931 0.00001
NM_001009944.3(PKD1):c.10163C>G (p.Ala3388Gly) rs780451430 0.00001
NM_001009944.3(PKD1):c.10822-4C>G rs1213585339 0.00001
NM_001009944.3(PKD1):c.11156+5G>A rs781007377 0.00001
NM_001009944.3(PKD1):c.11903G>A (p.Arg3968His) rs1297869565 0.00001
NM_001009944.3(PKD1):c.12441G>A (p.Lys4147=) rs201747031 0.00001
NM_001009944.3(PKD1):c.12697A>C (p.Thr4233Pro) rs1230641065 0.00001
NM_001009944.3(PKD1):c.2993C>T (p.Ala998Val) rs1393997103 0.00001
NM_001009944.3(PKD1):c.4696G>A (p.Val1566Met) rs2575314 0.00001
NM_001009944.3(PKD1):c.5080C>T (p.His1694Tyr) rs374424212 0.00001
NM_001009944.3(PKD1):c.5125G>A (p.Asp1709Asn) rs1199050207 0.00001
NM_001009944.3(PKD1):c.6404C>T (p.Ala2135Val) rs368987928 0.00001
NM_001009944.3(PKD1):c.6637C>T (p.Arg2213Trp) rs757222149 0.00001
NM_001009944.3(PKD1):c.6643C>T (p.Arg2215Trp) rs752793757 0.00001
NM_001009944.3(PKD1):c.6679C>T (p.His2227Tyr) rs1257476353 0.00001
NM_001009944.3(PKD1):c.8300G>A (p.Arg2767His) rs770080914 0.00001
NM_001009944.3(PKD1):c.8302G>A (p.Val2768Met) rs1456510041 0.00001
NM_001009944.3(PKD1):c.9815G>A (p.Arg3272His) rs1452116333 0.00001
NM_001009944.3(PKD1):c.9841G>A (p.Ala3281Thr) rs1210319842 0.00001
NM_001039141.3(TRIOBP):c.567G>T (p.Arg189Ser) rs1318164921 0.00001
NM_001040142.2(SCN2A):c.2046G>T (p.Lys682Asn) rs756493732 0.00001
NM_001042492.3(NF1):c.5951A>G (p.Asn1984Ser) rs764291252 0.00001
NM_001042492.3(NF1):c.7943T>G (p.Val2648Gly) rs1487025591 0.00001
NM_001042517.2(DIAPH3):c.1682C>G (p.Pro561Arg) rs752119644 0.00001
NM_001042517.2(DIAPH3):c.31C>T (p.Pro11Ser) rs1002183897 0.00001
NM_001048166.1(STIL):c.653T>G (p.Leu218Trp) rs1236526270 0.00001
NM_001077365.2(POMT1):c.1064T>C (p.Ile355Thr) rs1334264954 0.00001
NM_001077365.2(POMT1):c.1354G>A (p.Ala452Thr) rs150702948 0.00001
NM_001077365.2(POMT1):c.1601T>C (p.Leu534Pro) rs1489617043 0.00001
NM_001077365.2(POMT1):c.2068G>A (p.Val690Met) rs150209587 0.00001
NM_001077365.2(POMT1):c.426C>T (p.Ile142=) rs771390000 0.00001
NM_001077365.2(POMT1):c.697_699del (p.Asn233del) rs761863400 0.00001
NM_001083961.2(WDR62):c.1462C>T (p.Pro488Ser) rs769676295 0.00001
NM_001083961.2(WDR62):c.2600G>A (p.Arg867Gln) rs757558839 0.00001
NM_001083961.2(WDR62):c.3514C>T (p.Pro1172Ser) rs1345522384 0.00001
NM_001099922.3(ALG13):c.1217C>T (p.Ala406Val) rs1057522541 0.00001
NM_001099922.3(ALG13):c.2260C>T (p.Pro754Ser) rs775045681 0.00001
NM_001101362.3(KBTBD13):c.778C>T (p.Leu260Phe) rs769416249 0.00001
NM_001101362.3(KBTBD13):c.901G>T (p.Ala301Ser) rs540070816 0.00001
NM_001110556.2(FLNA):c.6437G>A (p.Arg2146His) rs1557176006 0.00001
NM_001110556.2(FLNA):c.6937G>A (p.Glu2313Lys) rs782129661 0.00001
NM_001126108.2(SLC12A3):c.3062A>G (p.Gln1021Arg) rs762026283 0.00001
NM_001126108.2(SLC12A3):c.391G>A (p.Glu131Lys) rs199745548 0.00001
NM_001126108.2(SLC12A3):c.472C>T (p.Arg158Trp) rs1041531529 0.00001
NM_001126108.2(SLC12A3):c.56G>A (p.Arg19His) rs776593495 0.00001
NM_001127222.2(CACNA1A):c.1327G>A (p.Ala443Thr) rs866479368 0.00001
NM_001127222.2(CACNA1A):c.1329T>C (p.Ala443=) rs2058444317 0.00001
NM_001127222.2(CACNA1A):c.1427G>A (p.Arg476His) rs755107633 0.00001
NM_001127222.2(CACNA1A):c.1499C>T (p.Thr500Met) rs121908240 0.00001
NM_001127222.2(CACNA1A):c.1546G>A (p.Asp516Asn) rs185034915 0.00001
NM_001127222.2(CACNA1A):c.2391G>A (p.Met797Ile) rs370746809 0.00001
NM_001127222.2(CACNA1A):c.2707C>T (p.His903Tyr) rs765300713 0.00001
NM_001127222.2(CACNA1A):c.2774C>T (p.Ala925Val) rs765345767 0.00001
NM_001127222.2(CACNA1A):c.2882A>C (p.His961Pro) rs1316264115 0.00001
NM_001127222.2(CACNA1A):c.294-4A>G rs1400044284 0.00001
NM_001127222.2(CACNA1A):c.3071G>A (p.Arg1024Gln) rs1458500776 0.00001
NM_001127222.2(CACNA1A):c.3167G>A (p.Arg1056His) rs200850308 0.00001
NM_001127222.2(CACNA1A):c.3364C>T (p.Arg1122Cys) rs774407963 0.00001
NM_001127222.2(CACNA1A):c.3371C>T (p.Thr1124Met) rs374720207 0.00001
NM_001127222.2(CACNA1A):c.3377A>G (p.Asn1126Ser) rs755440575 0.00001
NM_001127222.2(CACNA1A):c.4693C>T (p.Pro1565Ser) rs1353824164 0.00001
NM_001127222.2(CACNA1A):c.4786G>A (p.Ala1596Thr) rs769043258 0.00001
NM_001127222.2(CACNA1A):c.5336G>A (p.Arg1779Gln) rs267605294 0.00001
NM_001127222.2(CACNA1A):c.5839+10G>A rs371733571 0.00001
NM_001127222.2(CACNA1A):c.6055G>T (p.Ala2019Ser) rs1393616835 0.00001
NM_001127222.2(CACNA1A):c.6458A>G (p.Gln2153Arg) rs1242460645 0.00001
NM_001127222.2(CACNA1A):c.6469G>A (p.Asp2157Asn) rs1042634748 0.00001
NM_001127222.2(CACNA1A):c.7197G>C (p.Glu2399Asp) rs973900517 0.00001
NM_001127222.2(CACNA1A):c.7368G>A (p.Arg2456=) rs987406696 0.00001
NM_001127222.2(CACNA1A):c.7409G>A (p.Arg2470Gln) rs754738036 0.00001
NM_001127222.2(CACNA1A):c.7512T>C (p.Asp2504=) rs1296592145 0.00001
NM_001127644.2(GABRA1):c.1283C>T (p.Pro428Leu) rs778447396 0.00001
NM_001128840.3(CACNA1D):c.5695T>G (p.Cys1899Gly) rs779483775 0.00001
NM_001130823.3(DNMT1):c.4000G>A (p.Ala1334Thr) rs779967013 0.00001
NM_001130987.2(DYSF):c.3202C>G (p.Leu1068Val) rs781120136 0.00001
NM_001130987.2(DYSF):c.3458T>C (p.Phe1153Ser) rs886044487 0.00001
NM_001130987.2(DYSF):c.4060-7T>A rs753614306 0.00001
NM_001130987.2(DYSF):c.5483T>C (p.Leu1828Pro) rs727503914 0.00001
NM_001130987.2(DYSF):c.5720A>G (p.Asn1907Ser) rs543664648 0.00001
NM_001145026.2(PTPRQ):c.5076T>A (p.Ile1692=) rs745546272 0.00001
NM_001145809.2(MYH14):c.5962C>T (p.Arg1988Cys) rs747594595 0.00001
NM_001146262.4(SYT14):c.1182G>A (p.Met394Ile) rs759225529 0.00001
NM_001146262.4(SYT14):c.118C>A (p.Leu40Met) rs149932852 0.00001
NM_001146262.4(SYT14):c.61+13176A>G rs866440102 0.00001
NM_001161352.2(KCNMA1):c.2981C>T (p.Thr994Ile) rs768061213 0.00001
NM_001164508.2(NEB):c.1423A>G (p.Ile475Val) rs772070576 0.00001
NM_001165963.4(SCN1A):c.3506T>C (p.Val1169Ala) rs1380673643 0.00001
NM_001165963.4(SCN1A):c.821G>A (p.Arg274Lys) rs1285055471 0.00001
NM_001166114.2(PNPLA6):c.4046G>A (p.Arg1349Gln) rs368661376 0.00001
NM_001199107.2(TBC1D24):c.734T>C (p.Leu245Pro) rs370477379 0.00001
NM_001242896.3(DEPDC5):c.1265G>A (p.Arg422Gln) rs886039277 0.00001
NM_001243133.2(NLRP3):c.2951T>A (p.Val984Asp) rs778650629 0.00001
NM_001243230.2(TCF4):c.13A>G (p.Lys5Glu) rs1373298140 0.00001
NM_001244008.2(KIF1A):c.3296A>G (p.Asn1099Ser) rs1288885072 0.00001
NM_001244008.2(KIF1A):c.799-4G>A rs759945798 0.00001
NM_001267550.2(TTN):c.101173A>G (p.Ile33725Val) rs878900245 0.00001
NM_001267550.2(TTN):c.105449G>A (p.Cys35150Tyr) rs554953169 0.00001
NM_001267550.2(TTN):c.107182G>A (p.Glu35728Lys) rs764891218 0.00001
NM_001267550.2(TTN):c.107723T>C (p.Ile35908Thr) rs769141222 0.00001
NM_001267550.2(TTN):c.12779C>T (p.Ala4260Val) rs370295357 0.00001
NM_001267550.2(TTN):c.1307C>T (p.Ala436Val) rs781488193 0.00001
NM_001267550.2(TTN):c.13940A>G (p.Asp4647Gly) rs781348816 0.00001
NM_001267550.2(TTN):c.14018G>A (p.Gly4673Glu) rs374361492 0.00001
NM_001267550.2(TTN):c.15797G>A (p.Arg5266Gln) rs749816144 0.00001
NM_001267550.2(TTN):c.17910T>C (p.His5970=) rs1175537809 0.00001
NM_001267550.2(TTN):c.18589G>C (p.Glu6197Gln) rs753281535 0.00001
NM_001267550.2(TTN):c.19715-3T>C rs2079629592 0.00001
NM_001267550.2(TTN):c.20986T>C (p.Phe6996Leu) rs753725329 0.00001
NM_001267550.2(TTN):c.21674T>C (p.Phe7225Ser) rs780534846 0.00001
NM_001267550.2(TTN):c.21833T>A (p.Ile7278Lys) rs766571996 0.00001
NM_001267550.2(TTN):c.21956C>T (p.Thr7319Ile) rs876658043 0.00001
NM_001267550.2(TTN):c.2233A>G (p.Lys745Glu) rs139957325 0.00001
NM_001267550.2(TTN):c.22650A>T (p.Lys7550Asn) rs1460815999 0.00001
NM_001267550.2(TTN):c.23392G>A (p.Val7798Met) rs144032104 0.00001
NM_001267550.2(TTN):c.23521A>T (p.Asn7841Tyr) rs753072306 0.00001
NM_001267550.2(TTN):c.24706G>A (p.Glu8236Lys) rs377762626 0.00001
NM_001267550.2(TTN):c.25489C>T (p.Arg8497Cys) rs369517119 0.00001
NM_001267550.2(TTN):c.2585C>T (p.Pro862Leu) rs1431639021 0.00001
NM_001267550.2(TTN):c.28274C>T (p.Pro9425Leu) rs755720364 0.00001
NM_001267550.2(TTN):c.28462+3A>G rs1402065855 0.00001
NM_001267550.2(TTN):c.28877C>A (p.Ala9626Asp) rs397517530 0.00001
NM_001267550.2(TTN):c.2989A>G (p.Ile997Val) rs761499989 0.00001
NM_001267550.2(TTN):c.32011+1G>T rs1471534246 0.00001
NM_001267550.2(TTN):c.32096-5T>G rs551230637 0.00001
NM_001267550.2(TTN):c.33418+1G>A rs746588865 0.00001
NM_001267550.2(TTN):c.34435G>C (p.Glu11479Gln) rs1298237270 0.00001
NM_001267550.2(TTN):c.35012T>G (p.Val11671Gly) rs879054010 0.00001
NM_001267550.2(TTN):c.36578T>C (p.Val12193Ala) rs550002952 0.00001
NM_001267550.2(TTN):c.40478-4T>G rs1211347843 0.00001
NM_001267550.2(TTN):c.42055C>T (p.Arg14019Cys) rs763499817 0.00001
NM_001267550.2(TTN):c.42840T>G (p.Asp14280Glu) rs760643071 0.00001
NM_001267550.2(TTN):c.43989G>T (p.Lys14663Asn) rs781378924 0.00001
NM_001267550.2(TTN):c.4442T>C (p.Val1481Ala) rs1252349535 0.00001
NM_001267550.2(TTN):c.45895G>A (p.Glu15299Lys) rs397517582 0.00001
NM_001267550.2(TTN):c.46846A>G (p.Thr15616Ala) rs794727331 0.00001
NM_001267550.2(TTN):c.47662G>A (p.Gly15888Arg) rs566975986 0.00001
NM_001267550.2(TTN):c.49707G>T (p.Arg16569Ser) rs879180534 0.00001
NM_001267550.2(TTN):c.50258G>A (p.Gly16753Glu) rs774047061 0.00001
NM_001267550.2(TTN):c.51587G>T (p.Arg17196Ile) rs751398376 0.00001
NM_001267550.2(TTN):c.52411C>T (p.Pro17471Ser) rs551867239 0.00001
NM_001267550.2(TTN):c.52526G>A (p.Arg17509His) rs886055267 0.00001
NM_001267550.2(TTN):c.53219G>A (p.Gly17740Asp) rs1219250375 0.00001
NM_001267550.2(TTN):c.54632C>G (p.Pro18211Arg) rs764772164 0.00001
NM_001267550.2(TTN):c.54653G>A (p.Arg18218Gln) rs143643360 0.00001
NM_001267550.2(TTN):c.57832A>G (p.Ile19278Val) rs56025724 0.00001
NM_001267550.2(TTN):c.59003C>T (p.Pro19668Leu) rs794729465 0.00001
NM_001267550.2(TTN):c.59176G>A (p.Glu19726Lys) rs1356102019 0.00001
NM_001267550.2(TTN):c.61760C>G (p.Thr20587Arg) rs757267029 0.00001
NM_001267550.2(TTN):c.6192T>G (p.Phe2064Leu) rs759437501 0.00001
NM_001267550.2(TTN):c.63227C>T (p.Thr21076Ile) rs972090108 0.00001
NM_001267550.2(TTN):c.65786A>G (p.Lys21929Arg) rs1465791266 0.00001
NM_001267550.2(TTN):c.65864-7C>T rs1416710271 0.00001
NM_001267550.2(TTN):c.66479C>T (p.Pro22160Leu) rs777364605 0.00001
NM_001267550.2(TTN):c.66610G>A (p.Val22204Met) rs376238023 0.00001
NM_001267550.2(TTN):c.68300C>T (p.Pro22767Leu) rs775953148 0.00001
NM_001267550.2(TTN):c.6866T>G (p.Ile2289Ser) rs200440412 0.00001
NM_001267550.2(TTN):c.69337C>T (p.Arg23113Trp) rs749409444 0.00001
NM_001267550.2(TTN):c.69959A>G (p.Asn23320Ser) rs756468956 0.00001
NM_001267550.2(TTN):c.70181C>T (p.Thr23394Met) rs397517683 0.00001
NM_001267550.2(TTN):c.70843G>A (p.Ala23615Thr) rs574614034 0.00001
NM_001267550.2(TTN):c.71731A>G (p.Lys23911Glu) rs763131148 0.00001
NM_001267550.2(TTN):c.73024A>G (p.Ile24342Val) rs1051443527 0.00001
NM_001267550.2(TTN):c.74063G>A (p.Arg24688His) rs376988498 0.00001
NM_001267550.2(TTN):c.75053T>C (p.Val25018Ala) rs745832906 0.00001
NM_001267550.2(TTN):c.76565T>C (p.Ile25522Thr) rs372963832 0.00001
NM_001267550.2(TTN):c.76952T>C (p.Val25651Ala) rs370768049 0.00001
NM_001267550.2(TTN):c.76994T>G (p.Leu25665Arg) rs188012906 0.00001
NM_001267550.2(TTN):c.79636A>G (p.Thr26546Ala) rs775053902 0.00001
NM_001267550.2(TTN):c.82070C>G (p.Thr27357Arg) rs754175266 0.00001
NM_001267550.2(TTN):c.83674G>A (p.Gly27892Ser) rs765177625 0.00001
NM_001267550.2(TTN):c.85195G>A (p.Glu28399Lys) rs397517732 0.00001
NM_001267550.2(TTN):c.88156A>T (p.Ser29386Cys) rs727505102 0.00001
NM_001267550.2(TTN):c.8821A>G (p.Met2941Val) rs1344696996 0.00001
NM_001267550.2(TTN):c.89207G>C (p.Gly29736Ala) rs1454670479 0.00001
NM_001267550.2(TTN):c.91813T>A (p.Ser30605Thr) rs984360776 0.00001
NM_001267550.2(TTN):c.93288T>C (p.Tyr31096=) rs1280272876 0.00001
NM_001267550.2(TTN):c.95085G>T (p.Gly31695=) rs746787955 0.00001
NM_001267550.2(TTN):c.95119G>C (p.Asp31707His) rs1360232560 0.00001
NM_001267550.2(TTN):c.96020A>G (p.Glu32007Gly) rs1205390409 0.00001
NM_001267550.2(TTN):c.96551T>C (p.Ile32184Thr) rs952755219 0.00001
NM_001267550.2(TTN):c.96872C>T (p.Thr32291Ile) rs780461366 0.00001
NM_001267550.2(TTN):c.9770G>A (p.Arg3257His) rs535876380 0.00001
NM_001267550.2(TTN):c.98404C>A (p.Pro32802Thr) rs1165279106 0.00001
NM_001267550.2(TTN):c.98774G>A (p.Gly32925Asp) rs763528740 0.00001
NM_001267550.2(TTN):c.99955G>A (p.Gly33319Arg) rs72648279 0.00001
NM_001271.4(CHD2):c.1693A>G (p.Ile565Val) rs1060503518 0.00001
NM_001271.4(CHD2):c.5120G>A (p.Arg1707Gln) rs61759469 0.00001
NM_001278064.2(GRM1):c.113T>C (p.Val38Ala) rs374907798 0.00001
NM_001278064.2(GRM1):c.1754A>G (p.Tyr585Cys) rs754787480 0.00001
NM_001278064.2(GRM1):c.2062G>A (p.Gly688Ser) rs965990929 0.00001
NM_001278064.2(GRM1):c.2087G>A (p.Arg696Gln) rs746003735 0.00001
NM_001278064.2(GRM1):c.2252T>A (p.Leu751Gln) rs767615613 0.00001
NM_001278064.2(GRM1):c.3408A>G (p.Lys1136=) rs1040774327 0.00001
NM_001278064.2(GRM1):c.41T>G (p.Leu14Trp) rs774851565 0.00001
NM_001278064.2(GRM1):c.722T>C (p.Met241Thr) rs768616151 0.00001
NM_001278116.2(L1CAM):c.3654G>C (p.Gln1218His) rs1369743518 0.00001
NM_001292063.2(OTOG):c.365C>T (p.Thr122Ile) rs1403454339 0.00001
NM_001293298.2(CEMIP):c.3311C>T (p.Thr1104Met) rs376164357 0.00001
NM_001330260.2(SCN8A):c.1507C>G (p.Leu503Val) rs1022856027 0.00001
NM_001330260.2(SCN8A):c.3345C>T (p.Ser1115=) rs745966369 0.00001
NM_001330260.2(SCN8A):c.5675G>A (p.Arg1892His) rs1565934531 0.00001
NM_001347702.2(SYNE1):c.1447A>T (p.Met483Leu) rs372305836 0.00001
NM_001347721.2(DYRK1A):c.1947G>A (p.Leu649=) rs767266728 0.00001
NM_001353921.2(ARHGEF9):c.1474G>A (p.Gly492Ser) rs1365914320 0.00001
NM_001365536.1(SCN9A):c.5157A>T (p.Lys1719Asn) rs749848631 0.00001
NM_001365536.1(SCN9A):c.5425C>G (p.Leu1809Val) rs199954555 0.00001
NM_001365999.1(SZT2):c.1487C>T (p.Thr496Met) rs781377160 0.00001
NM_001365999.1(SZT2):c.629A>G (p.Gln210Arg) rs1557531808 0.00001
NM_001365999.1(SZT2):c.7681T>C (p.Phe2561Leu) rs148506515 0.00001
NM_001365999.1(SZT2):c.7718G>C (p.Ser2573Thr) rs755325371 0.00001
NM_001367561.1(DOCK7):c.-1C>T rs1181335941 0.00001
NM_001370298.3(FGD4):c.1102-5T>A rs1459339879 0.00001
NM_001370298.3(FGD4):c.2509C>A (p.Pro837Thr) rs756057996 0.00001
NM_001371279.1(REEP1):c.521G>C (p.Gly174Ala) rs1279009965 0.00001
NM_001376.5(DYNC1H1):c.13408C>T (p.Pro4470Ser) rs150906249 0.00001
NM_001376.5(DYNC1H1):c.6986A>G (p.Asn2329Ser) rs142335110 0.00001
NM_001376.5(DYNC1H1):c.8954G>C (p.Cys2985Ser) rs1269870036 0.00001
NM_001378030.1(CCDC78):c.1136G>A (p.Gly379Asp) rs1296158476 0.00001
NM_001378120.1(MBD5):c.415C>T (p.Pro139Ser) rs1472737578 0.00001
NM_001378120.1(MBD5):c.4193G>A (p.Arg1398Gln) rs727503999 0.00001
NM_001378452.1(ITPR1):c.1152-6T>C rs752886993 0.00001
NM_001378452.1(ITPR1):c.1240G>A (p.Val414Met) rs1462970629 0.00001
NM_001378452.1(ITPR1):c.2225C>T (p.Ala742Val) rs779996062 0.00001
NM_001378452.1(ITPR1):c.2980G>A (p.Val994Met) rs776228202 0.00001
NM_001378452.1(ITPR1):c.3277C>T (p.Leu1093Phe) rs1278034455 0.00001
NM_001378452.1(ITPR1):c.4483A>G (p.Ile1495Val) rs769648295 0.00001
NM_001378452.1(ITPR1):c.4640G>A (p.Arg1547Gln) rs1250105592 0.00001
NM_001378452.1(ITPR1):c.5228C>T (p.Ala1743Val) rs747201343 0.00001
NM_001378452.1(ITPR1):c.5266G>A (p.Val1756Ile) rs763787819 0.00001
NM_001378452.1(ITPR1):c.5301C>A (p.Ser1767Arg) rs758372914 0.00001
NM_001378452.1(ITPR1):c.5789C>A (p.Ala1930Asp) rs535969136 0.00001
NM_001378452.1(ITPR1):c.5867C>T (p.Ala1956Val) rs769041115 0.00001
NM_001378452.1(ITPR1):c.6808+4G>A rs746724784 0.00001
NM_001378452.1(ITPR1):c.7180A>G (p.Met2394Val) rs905034632 0.00001
NM_001378452.1(ITPR1):c.7707C>A (p.Pro2569=) rs1371333593 0.00001
NM_001378452.1(ITPR1):c.806G>A (p.Arg269Gln) rs760588490 0.00001
NM_001378609.3(OTOGL):c.4823C>T (p.Pro1608Leu) rs1467973613 0.00001
NM_001378969.1(KCND3):c.1277G>A (p.Arg426His) rs760274429 0.00001
NM_001378969.1(KCND3):c.1427A>G (p.His476Arg) rs1571626155 0.00001
NM_001378969.1(KCND3):c.1697G>A (p.Arg566His) rs761867267 0.00001
NM_001378969.1(KCND3):c.553T>C (p.Phe185Leu) rs1219355757 0.00001
NM_001382.4(DPAGT1):c.868C>G (p.Leu290Val) rs376322200 0.00001
NM_001384140.1(PCDH15):c.1172A>G (p.Gln391Arg) rs758680936 0.00001
NM_001458.5(FLNC):c.5544C>T (p.Ser1848=) rs1350503435 0.00001
NM_001482.3(GATM):c.814-3C>T rs1262428448 0.00001
NM_001845.6(COL4A1):c.1091C>T (p.Pro364Leu) rs755483519 0.00001
NM_001845.6(COL4A1):c.3581C>T (p.Pro1194Leu) rs372606485 0.00001
NM_001848.3(COL6A1):c.680C>T (p.Ala227Val) rs770597799 0.00001
NM_001854.4(COL11A1):c.3923C>T (p.Pro1308Leu) rs769308801 0.00001
NM_001927.4(DES):c.286G>T (p.Ala96Ser) rs201190593 0.00001
NM_001961.4(EEF2):c.1168C>G (p.Pro390Ala) rs762878861 0.00001
NM_001961.4(EEF2):c.128C>T (p.Ala43Val) rs768918548 0.00001
NM_001961.4(EEF2):c.2176C>T (p.Arg726Trp) rs752178810 0.00001
NM_001961.4(EEF2):c.637G>T (p.Gly213Cys) rs773181804 0.00001
NM_001961.4(EEF2):c.712G>A (p.Ala238Thr) rs575523824 0.00001
NM_002047.4(GARS1):c.1905G>A (p.Ser635=) rs773889809 0.00001
NM_002047.4(GARS1):c.2159A>C (p.Glu720Ala) rs530891983 0.00001
NM_002047.4(GARS1):c.401A>G (p.Tyr134Cys) rs898879117 0.00001
NM_002055.5(GFAP):c.546C>T (p.Ala182=) rs1190065571 0.00001
NM_002087.4(GRN):c.1448C>T (p.Pro483Leu) rs774128685 0.00001
NM_002087.4(GRN):c.928A>C (p.Thr310Pro) rs969767392 0.00001
NM_002156.5(HSPD1):c.1426G>T (p.Ala476Ser) rs375600770 0.00001
NM_002180.3(IGHMBP2):c.1348C>T (p.Arg450Cys) rs374363750 0.00001
NM_002241.5(KCNJ10):c.427G>A (p.Ala143Thr) rs796052607 0.00001
NM_002547.3(OPHN1):c.2170A>G (p.Ser724Gly) rs760163301 0.00001
NM_002547.3(OPHN1):c.2249G>A (p.Arg750Gln) rs765116282 0.00001
NM_002547.3(OPHN1):c.2316A>G (p.Thr772=) rs1403350105 0.00001
NM_002693.3(POLG):c.1061A>G (p.Asn354Ser) rs148697152 0.00001
NM_002693.3(POLG):c.1936G>T (p.Val646Phe) rs757131755 0.00001
NM_002693.3(POLG):c.1976A>C (p.His659Pro) rs1325564562 0.00001
NM_002693.3(POLG):c.2195A>G (p.Tyr732Cys) rs760305786 0.00001
NM_002693.3(POLG):c.2215T>C (p.Tyr739His) rs796052885 0.00001
NM_002693.3(POLG):c.2608G>C (p.Val870Leu) rs1329611992 0.00001
NM_002693.3(POLG):c.2725G>A (p.Gly909Ser) rs758419140 0.00001
NM_002693.3(POLG):c.3046G>A (p.Glu1016Lys) rs763290547 0.00001
NM_002693.3(POLG):c.3073C>A (p.Leu1025Met) rs1421324049 0.00001
NM_002693.3(POLG):c.3257C>T (p.Ser1086Leu) rs373316463 0.00001
NM_002693.3(POLG):c.3323A>T (p.Tyr1108Phe) rs765949668 0.00001
NM_002693.3(POLG):c.38C>G (p.Thr13Ser) rs1199924512 0.00001
NM_002693.3(POLG):c.453G>A (p.Leu151=) rs779981823 0.00001
NM_002693.3(POLG):c.609G>C (p.Leu203Phe) rs796052900 0.00001
NM_002693.3(POLG):c.726T>A (p.Ala242=) rs2055576134 0.00001
NM_002693.3(POLG):c.869G>A (p.Arg290His) rs146603953 0.00001
NM_002693.3(POLG):c.86C>G (p.Ser29Cys) rs796052895 0.00001
NM_002739.5(PRKCG):c.974C>T (p.Pro325Leu) rs145197557 0.00001
NM_002968.3(SALL1):c.2825C>A (p.Pro942His) rs751069468 0.00001
NM_003119.4(SPG7):c.1175G>A (p.Ser392Asn) rs745459731 0.00001
NM_003119.4(SPG7):c.1552+2dup rs1567928509 0.00001
NM_003482.4(KMT2D):c.13118G>A (p.Gly4373Asp) rs770966197 0.00001
NM_003482.4(KMT2D):c.14972G>A (p.Arg4991Gln) rs761108868 0.00001
NM_003482.4(KMT2D):c.6884C>T (p.Ser2295Phe) rs758685548 0.00001
NM_003482.4(KMT2D):c.7787C>T (p.Pro2596Leu) rs756597120 0.00001
NM_003482.4(KMT2D):c.8789C>T (p.Pro2930Leu) rs777025180 0.00001
NM_003680.4(YARS1):c.166A>G (p.Met56Val) rs141115281 0.00001
NM_003680.4(YARS1):c.190A>C (p.Lys64Gln) rs1322723317 0.00001
NM_003680.4(YARS1):c.277C>T (p.Arg93Ter) rs781579762 0.00001
NM_003680.4(YARS1):c.709C>T (p.Arg237Trp) rs1385295171 0.00001
NM_003793.4(CTSF):c.1252C>T (p.Arg418Cys) rs761039140 0.00001
NM_003900.5(SQSTM1):c.1052G>C (p.Gly351Ala) rs1355424687 0.00001
NM_004004.6(GJB2):c.14C>T (p.Thr5Met) rs781085903 0.00001
NM_004004.6(GJB2):c.188T>C (p.Val63Ala) rs727504309 0.00001
NM_004006.3(DMD):c.-192C>T rs2051914908 0.00001
NM_004006.3(DMD):c.1112A>G (p.Asp371Gly) rs770239678 0.00001
NM_004006.3(DMD):c.3239A>G (p.Asp1080Gly) rs886043493 0.00001
NM_004100.5(EYA4):c.1434G>T (p.Met478Ile) rs1187396214 0.00001
NM_004115.4(FGF14):c.256C>A (p.His86Asn) rs758950207 0.00001
NM_004172.5(SLC1A3):c.1046T>C (p.Ile349Thr) rs760669339 0.00001
NM_004172.5(SLC1A3):c.212A>G (p.Tyr71Cys) rs573483474 0.00001
NM_004172.5(SLC1A3):c.560T>A (p.Phe187Tyr) rs1742105604 0.00001
NM_004172.5(SLC1A3):c.770T>C (p.Ile257Thr) rs145397429 0.00001
NM_004172.5(SLC1A3):c.803G>A (p.Arg268Lys) rs1371499415 0.00001
NM_004172.5(SLC1A3):c.954C>A (p.Thr318=) rs528899789 0.00001
NM_004320.6(ATP2A1):c.2902C>T (p.Leu968Phe) rs1403323589 0.00001
NM_004369.4(COL6A3):c.3575G>A (p.Arg1192His) rs776312405 0.00001
NM_004393.6(DAG1):c.1015G>A (p.Val339Met) rs763537489 0.00001
NM_004393.6(DAG1):c.2647A>G (p.Met883Val) rs754908618 0.00001
NM_004408.4(DNM1):c.*6T>A rs766139015 0.00001
NM_004519.4(KCNQ3):c.1709T>C (p.Met570Thr) rs199999939 0.00001
NM_004526.4(MCM2):c.1213A>G (p.Ser405Gly) rs772049358 0.00001
NM_004595.5(SMS):c.330-10C>G rs1460331906 0.00001
NM_004621.6(TRPC6):c.643C>T (p.Arg215Trp) rs768210838 0.00001
NM_004646.4(NPHS1):c.1850A>G (p.His617Arg) rs764058957 0.00001
NM_004646.4(NPHS1):c.2054G>A (p.Gly685Asp) rs1161340572 0.00001
NM_004820.5(CYP7B1):c.956G>T (p.Arg319Leu) rs767826482 0.00001
NM_004960.4(FUS):c.1168+6G>C rs750980752 0.00001
NM_004974.4(KCNA2):c.1433A>G (p.Lys478Arg) rs1243868138 0.00001
NM_004977.3(KCNC3):c.2023G>A (p.Glu675Lys) rs758477949 0.00001
NM_004977.3(KCNC3):c.991G>A (p.Gly331Arg) rs1305901422 0.00001
NM_005045.4(RELN):c.7897G>A (p.Glu2633Lys) rs958494439 0.00001
NM_005045.4(RELN):c.8158G>A (p.Glu2720Lys) rs1554367200 0.00001
NM_005271.5(GLUD1):c.921+15A>C rs1223770359 0.00001
NM_005477.3(HCN4):c.3448G>A (p.Val1150Ile) rs772491303 0.00001
NM_005506.4(SCARB2):c.1039G>A (p.Glu347Lys) rs559054010 0.00001
NM_005529.7(HSPG2):c.10309G>T (p.Gly3437Trp) rs1265080496 0.00001
NM_005529.7(HSPG2):c.11819C>T (p.Ala3940Val) rs764345932 0.00001
NM_005529.7(HSPG2):c.12773A>G (p.Asp4258Gly) rs756568323 0.00001
NM_005529.7(HSPG2):c.2402G>A (p.Gly801Glu) rs759055154 0.00001
NM_005529.7(HSPG2):c.362C>T (p.Ser121Leu) rs780963482 0.00001
NM_005529.7(HSPG2):c.4061A>G (p.Gln1354Arg) rs1021698423 0.00001
NM_005529.7(HSPG2):c.4226C>T (p.Ala1409Val) rs746918802 0.00001
NM_005529.7(HSPG2):c.5638G>A (p.Gly1880Arg) rs755793917 0.00001
NM_005529.7(HSPG2):c.6119T>A (p.Val2040Glu) rs538015199 0.00001
NM_005529.7(HSPG2):c.6161A>G (p.Lys2054Arg) rs758801322 0.00001
NM_005529.7(HSPG2):c.6308G>A (p.Arg2103Gln) rs751330969 0.00001
NM_005529.7(HSPG2):c.6484C>T (p.His2162Tyr) rs757056213 0.00001
NM_005529.7(HSPG2):c.6516C>A (p.Asn2172Lys) rs751315560 0.00001
NM_005529.7(HSPG2):c.7389G>A (p.Gln2463=) rs1183628323 0.00001
NM_005529.7(HSPG2):c.7394A>G (p.His2465Arg) rs1327744845 0.00001
NM_005529.7(HSPG2):c.833G>T (p.Gly278Val) rs766807669 0.00001
NM_005529.7(HSPG2):c.9154A>G (p.Ile3052Val) rs764834261 0.00001
NM_005529.7(HSPG2):c.9274G>A (p.Val3092Met) rs369024085 0.00001
NM_005591.4(MRE11):c.1154T>C (p.Phe385Ser) rs786201817 0.00001
NM_005591.4(MRE11):c.1238A>G (p.Asn413Ser) rs587782457 0.00001
NM_005591.4(MRE11):c.1478T>G (p.Leu493Arg) rs786203158 0.00001
NM_005591.4(MRE11):c.1499A>T (p.Glu500Val) rs786203159 0.00001
NM_005591.4(MRE11):c.1699A>G (p.Asn567Asp) rs778585671 0.00001
NM_005591.4(MRE11):c.1718G>A (p.Gly573Glu) rs587781461 0.00001
NM_005591.4(MRE11):c.1875A>C (p.Lys625Asn) rs907660509 0.00001
NM_005591.4(MRE11):c.250A>G (p.Met84Val) rs786203222 0.00001
NM_005591.4(MRE11):c.826C>T (p.Pro276Ser) rs587782742 0.00001
NM_005591.4(MRE11):c.83A>C (p.Lys28Thr) rs876658611 0.00001
NM_005619.5(RTN2):c.1322C>T (p.Ser441Leu) rs755367786 0.00001
NM_005619.5(RTN2):c.389C>T (p.Ala130Val) rs745409162 0.00001
NM_005619.5(RTN2):c.79+6T>A rs749104931 0.00001
NM_005619.5(RTN2):c.916G>A (p.Val306Ile) rs181791404 0.00001
NM_005629.4(SLC6A8):c.1319G>A (p.Arg440His) rs781925657 0.00001
NM_005881.4(BCKDK):c.529C>T (p.Arg177Trp) rs774302251 0.00001
NM_006096.4(NDRG1):c.1085G>A (p.Ser362Asn) rs749124058 0.00001
NM_006096.4(NDRG1):c.1153G>A (p.Ala385Thr) rs1276408714 0.00001
NM_006158.5(NEFL):c.202C>G (p.Leu68Val) rs1328701916 0.00001
NM_006158.5(NEFL):c.490C>G (p.Arg164Gly) rs752771636 0.00001
NM_006493.4(CLN5):c.-74T>C rs1182554801 0.00001
NM_006493.4(CLN5):c.904A>G (p.Lys302Glu) rs1060502320 0.00001
NM_006767.4(LZTR1):c.848G>A (p.Arg283Gln) rs1223430276 0.00001
NM_006790.3(MYOT):c.1222T>C (p.Leu408=) rs886059968 0.00001
NM_006796.3(AFG3L2):c.1814A>G (p.Tyr605Cys) rs773240455 0.00001
NM_006796.3(AFG3L2):c.1820A>G (p.Gln607Arg) rs774546735 0.00001
NM_006796.3(AFG3L2):c.31C>G (p.Arg11Gly) rs1050447923 0.00001
NM_006796.3(AFG3L2):c.365A>T (p.Lys122Ile) rs915684170 0.00001
NM_006946.4(SPTBN2):c.1073+4G>A rs539652266 0.00001
NM_006946.4(SPTBN2):c.1129C>T (p.Arg377Trp) rs199861592 0.00001
NM_006946.4(SPTBN2):c.1511C>G (p.Ala504Gly) rs1454805342 0.00001
NM_006946.4(SPTBN2):c.1786C>T (p.Arg596Cys) rs533645041 0.00001
NM_006946.4(SPTBN2):c.2006C>T (p.Thr669Met) rs775522542 0.00001
NM_006946.4(SPTBN2):c.2383G>A (p.Glu795Lys) rs1387465998 0.00001
NM_006946.4(SPTBN2):c.2464G>A (p.Glu822Lys) rs771402351 0.00001
NM_006946.4(SPTBN2):c.2602G>A (p.Val868Met) rs1424804035 0.00001
NM_006946.4(SPTBN2):c.3281C>T (p.Pro1094Leu) rs748499520 0.00001
NM_006946.4(SPTBN2):c.3667G>A (p.Ala1223Thr) rs765368981 0.00001
NM_006946.4(SPTBN2):c.3883G>A (p.Asp1295Asn) rs1449778004 0.00001
NM_006946.4(SPTBN2):c.4833G>C (p.Met1611Ile) rs1328577241 0.00001
NM_006946.4(SPTBN2):c.4960A>G (p.Met1654Val) rs1258204858 0.00001
NM_006946.4(SPTBN2):c.5003G>A (p.Arg1668His) rs746585059 0.00001
NM_006946.4(SPTBN2):c.5032G>A (p.Gly1678Ser) rs768814631 0.00001
NM_006946.4(SPTBN2):c.5102G>A (p.Arg1701His) rs907900432 0.00001
NM_006946.4(SPTBN2):c.5138G>A (p.Arg1713His) rs753738305 0.00001
NM_006946.4(SPTBN2):c.5284A>G (p.Ile1762Val) rs569231673 0.00001
NM_006946.4(SPTBN2):c.5540A>G (p.His1847Arg) rs765894915 0.00001
NM_006946.4(SPTBN2):c.5749C>T (p.Arg1917Trp) rs868609865 0.00001
NM_006946.4(SPTBN2):c.5846A>G (p.Gln1949Arg) rs1940417909 0.00001
NM_006946.4(SPTBN2):c.5978C>T (p.Ala1993Val) rs368415742 0.00001
NM_006946.4(SPTBN2):c.6720C>T (p.Asn2240=) rs754536144 0.00001
NM_006946.4(SPTBN2):c.6802G>A (p.Val2268Met) rs750623875 0.00001
NM_006946.4(SPTBN2):c.7030A>C (p.Ser2344Arg) rs148840695 0.00001
NM_006946.4(SPTBN2):c.752C>T (p.Thr251Ile) rs373650492 0.00001
NM_006950.3(SYN1):c.2112C>T (p.Ser704=) rs1227806166 0.00001
NM_006950.3(SYN1):c.334G>T (p.Ala112Ser) rs764283680 0.00001
NM_007126.5(VCP):c.18-4C>G rs1563981227 0.00001
NM_007126.5(VCP):c.1973A>C (p.Lys658Thr) rs1284380722 0.00001
NM_007126.5(VCP):c.697A>G (p.Ile233Val) rs750335399 0.00001
NM_007327.4(GRIN1):c.2442C>T (p.Ala814=) rs773708731 0.00001
NM_012210.4(TRIM32):c.938C>T (p.Ala313Val) rs794727284 0.00001
NM_012233.3(RAB3GAP1):c.460A>G (p.Ile154Val) rs750345824 0.00001
NM_012301.4(MAGI2):c.1425T>C (p.Tyr475=) rs148086431 0.00001
NM_012301.4(MAGI2):c.3022C>T (p.Pro1008Ser) rs764279398 0.00001
NM_013275.6(ANKRD11):c.1994A>G (p.Lys665Arg) rs769640583 0.00001
NM_013275.6(ANKRD11):c.6046C>T (p.Pro2016Ser) rs1449729767 0.00001
NM_013275.6(ANKRD11):c.6377G>A (p.Gly2126Asp) rs763100566 0.00001
NM_013275.6(ANKRD11):c.6704C>T (p.Pro2235Leu) rs1394383095 0.00001
NM_013382.7(POMT2):c.1843A>G (p.Ile615Val) rs762148813 0.00001
NM_013382.7(POMT2):c.1870C>T (p.Arg624Trp) rs749335757 0.00001
NM_013382.7(POMT2):c.275T>C (p.Met92Thr) rs775489616 0.00001
NM_013444.4(UBQLN2):c.522G>A (p.Gln174=) rs1271536440 0.00001
NM_014053.4(FLVCR1):c.-7C>T rs1323079807 0.00001
NM_014053.4(FLVCR1):c.1506T>G (p.Phe502Leu) rs369869680 0.00001
NM_014053.4(FLVCR1):c.169C>G (p.Leu57Val) rs1039497994 0.00001
NM_014053.4(FLVCR1):c.18T>A (p.Asp6Glu) rs1029247819 0.00001
NM_014053.4(FLVCR1):c.488C>T (p.Pro163Leu) rs369434267 0.00001
NM_014053.4(FLVCR1):c.785A>G (p.Asn262Ser) rs547679833 0.00001
NM_014159.7(SETD2):c.1688T>C (p.Ile563Thr) rs202178837 0.00001
NM_014159.7(SETD2):c.7444A>G (p.Ile2482Val) rs761150552 0.00001
NM_014363.6(SACS):c.11207T>C (p.Met3736Thr) rs759433888 0.00001
NM_014363.6(SACS):c.11887A>G (p.Met3963Val) rs375613914 0.00001
NM_014363.6(SACS):c.13273G>A (p.Gly4425Arg) rs754693143 0.00001
NM_014363.6(SACS):c.13282T>G (p.Tyr4428Asp) rs886050071 0.00001
NM_014363.6(SACS):c.1846G>C (p.Ala616Pro) rs200437752 0.00001
NM_014363.6(SACS):c.2092A>T (p.Arg698Trp) rs965068037 0.00001
NM_014363.6(SACS):c.2471C>T (p.Ser824Leu) rs762821420 0.00001
NM_014363.6(SACS):c.2585C>T (p.Pro862Leu) rs776290829 0.00001
NM_014363.6(SACS):c.2611C>T (p.Pro871Ser) rs370103461 0.00001
NM_014363.6(SACS):c.3017A>G (p.His1006Arg) rs368149368 0.00001
NM_014363.6(SACS):c.3506G>C (p.Gly1169Ala) rs1443000762 0.00001
NM_014363.6(SACS):c.4597T>G (p.Ser1533Ala) rs1230237404 0.00001
NM_014363.6(SACS):c.4628A>G (p.Glu1543Gly) rs370324250 0.00001
NM_014363.6(SACS):c.4639A>T (p.Arg1547Trp) rs772907934 0.00001
NM_014363.6(SACS):c.47G>T (p.Gly16Val) rs886050090 0.00001
NM_014363.6(SACS):c.482A>G (p.Asn161Ser) rs746069731 0.00001
NM_014363.6(SACS):c.4840T>C (p.Phe1614Leu) rs771080306 0.00001
NM_014363.6(SACS):c.4846A>C (p.Asn1616His) rs979327782 0.00001
NM_014363.6(SACS):c.4913G>A (p.Ser1638Asn) rs774163551 0.00001
NM_014363.6(SACS):c.5732C>T (p.Thr1911Met) rs368494148 0.00001
NM_014363.6(SACS):c.593A>G (p.Tyr198Cys) rs1461096954 0.00001
NM_014363.6(SACS):c.6776C>T (p.Pro2259Leu) rs150098233 0.00001
NM_014363.6(SACS):c.6778A>G (p.Ile2260Val) rs202110208 0.00001
NM_014363.6(SACS):c.6993A>T (p.Glu2331Asp) rs759201960 0.00001
NM_014363.6(SACS):c.7262T>A (p.Phe2421Tyr) rs1213144547 0.00001
NM_014363.6(SACS):c.7282A>G (p.Ile2428Val) rs1007936574 0.00001
NM_014363.6(SACS):c.7406A>G (p.Asn2469Ser) rs1288769278 0.00001
NM_014363.6(SACS):c.8233G>A (p.Glu2745Lys) rs745462710 0.00001
NM_014363.6(SACS):c.8414C>T (p.Thr2805Ile) rs772742353 0.00001
NM_014363.6(SACS):c.8836A>G (p.Asn2946Asp) rs184407783 0.00001
NM_014363.6(SACS):c.8889C>A (p.Phe2963Leu) rs776647599 0.00001
NM_014363.6(SACS):c.9677A>G (p.Tyr3226Cys) rs776143384 0.00001
NM_014363.6(SACS):c.9680A>C (p.Lys3227Thr) rs765635417 0.00001
NM_014625.4(NPHS2):c.965G>C (p.Arg322Pro) rs776859868 0.00001
NM_014795.4(ZEB2):c.2390A>G (p.His797Arg) rs201227541 0.00001
NM_014795.4(ZEB2):c.3329G>A (p.Arg1110Gln) rs1346483037 0.00001
NM_014845.6(FIG4):c.1069G>A (p.Ala357Thr) rs376772954 0.00001
NM_014845.6(FIG4):c.2116G>A (p.Val706Ile) rs754830354 0.00001
NM_014845.6(FIG4):c.2256G>C (p.Glu752Asp) rs375960403 0.00001
NM_014845.6(FIG4):c.2339A>G (p.Lys780Arg) rs373590484 0.00001
NM_014845.6(FIG4):c.2444T>C (p.Phe815Ser) rs375414729 0.00001
NM_014845.6(FIG4):c.244G>A (p.Gly82Arg) rs774546266 0.00001
NM_014845.6(FIG4):c.2660T>C (p.Met887Thr) rs780643086 0.00001
NM_014845.6(FIG4):c.2695C>T (p.Arg899Ter) rs750069994 0.00001
NM_014845.6(FIG4):c.309A>C (p.Glu103Asp) rs151070087 0.00001
NM_014855.3(AP5Z1):c.2015A>C (p.Glu672Ala) rs370660240 0.00001
NM_014855.3(AP5Z1):c.2345A>G (p.Asp782Gly) rs779642265 0.00001
NM_014855.3(AP5Z1):c.392C>T (p.Ala131Val) rs372539355 0.00001
NM_014874.4(MFN2):c.1408A>G (p.Ile470Val) rs776174992 0.00001
NM_014874.4(MFN2):c.163A>T (p.Thr55Ser) rs776423551 0.00001
NM_014874.4(MFN2):c.1782C>T (p.Leu594=) rs950932066 0.00001
NM_014874.4(MFN2):c.31A>G (p.Ile11Val) rs763735861 0.00001
NM_014874.4(MFN2):c.420T>G (p.Asp140Glu) rs767640801 0.00001
NM_014946.4(SPAST):c.1783A>G (p.Ser595Gly) rs1553321245 0.00001
NM_015046.7(SETX):c.1579C>G (p.Pro527Ala) rs774240718 0.00001
NM_015046.7(SETX):c.1670G>A (p.Arg557Gln) rs548433078 0.00001
NM_015046.7(SETX):c.2005A>T (p.Asn669Tyr) rs143727702 0.00001
NM_015046.7(SETX):c.2125A>G (p.Thr709Ala) rs750530263 0.00001
NM_015046.7(SETX):c.2233C>T (p.Arg745Cys) rs780121182 0.00001
NM_015046.7(SETX):c.2245G>A (p.Asp749Asn) rs922821119 0.00001
NM_015046.7(SETX):c.2254A>G (p.Thr752Ala) rs745938575 0.00001
NM_015046.7(SETX):c.2711A>G (p.Asn904Ser) rs143265750 0.00001
NM_015046.7(SETX):c.3040A>G (p.Ile1014Val) rs761243379 0.00001
NM_015046.7(SETX):c.3602T>C (p.Ile1201Thr) rs750443804 0.00001
NM_015046.7(SETX):c.3900C>T (p.Ser1300=) rs886063554 0.00001
NM_015046.7(SETX):c.4114G>C (p.Asp1372His) rs1564539457 0.00001
NM_015046.7(SETX):c.4270A>G (p.Ile1424Val) rs757978377 0.00001
NM_015046.7(SETX):c.4312C>T (p.Pro1438Ser) rs750178634 0.00001
NM_015046.7(SETX):c.4417C>T (p.Arg1473Cys) rs781185115 0.00001
NM_015046.7(SETX):c.4424T>C (p.Ile1475Thr) rs765480069 0.00001
NM_015046.7(SETX):c.4432G>A (p.Ala1478Thr) rs759545112 0.00001
NM_015046.7(SETX):c.5297C>A (p.Ser1766Tyr) rs1434366684 0.00001
NM_015046.7(SETX):c.5503G>A (p.Glu1835Lys) rs143133190 0.00001
NM_015046.7(SETX):c.6172A>C (p.Lys2058Gln) rs747309962 0.00001
NM_015046.7(SETX):c.628A>G (p.Ile210Val) rs1352654083 0.00001
NM_015046.7(SETX):c.6313C>T (p.Arg2105Trp) rs142843968 0.00001
NM_015046.7(SETX):c.7005G>C (p.Lys2335Asn) rs141657462 0.00001
NM_015046.7(SETX):c.7139G>A (p.Arg2380Gln) rs145397619 0.00001
NM_015046.7(SETX):c.820A>G (p.Met274Val) rs753713810 0.00001
NM_015046.7(SETX):c.866C>T (p.Ala289Val) rs1237541645 0.00001
NM_015046.7(SETX):c.967A>G (p.Ser323Gly) rs758625845 0.00001
NM_015087.5(SPART):c.141G>T (p.Lys47Asn) rs1566133181 0.00001
NM_015192.4(PLCB1):c.3336G>A (p.Arg1112=) rs771734537 0.00001
NM_015192.4(PLCB1):c.807G>C (p.Glu269Asp) rs1222914240 0.00001
NM_015346.4(ZFYVE26):c.5003G>A (p.Arg1668Gln) rs1239889656 0.00001
NM_015559.3(SETBP1):c.493A>G (p.Thr165Ala) rs770804298 0.00001
NM_015713.5(RRM2B):c.470A>G (p.Asn157Ser) rs751231428 0.00001
NM_016156.6(MTMR2):c.1386+8A>C rs371105248 0.00001
NM_016239.4(MYO15A):c.1277C>T (p.Ala426Val) rs765664013 0.00001
NM_016341.4(PLCE1):c.2995T>C (p.Phe999Leu) rs751871890 0.00001
NM_017433.5(MYO3A):c.3232A>T (p.Ile1078Leu) rs199834305 0.00001
NM_017534.6(MYH2):c.2045A>G (p.Asn682Ser) rs761148856 0.00001
NM_017534.6(MYH2):c.3541C>T (p.Arg1181Cys) rs201768483 0.00001
NM_017739.4(POMGNT1):c.358C>G (p.Leu120Val) rs373016708 0.00001
NM_017780.4(CHD7):c.5816G>A (p.Arg1939Gln) rs1024797402 0.00001
NM_018075.5(ANO10):c.305A>G (p.Tyr102Cys) rs754580837 0.00001
NM_018075.5(ANO10):c.416A>T (p.Asp139Val) rs1341078381 0.00001
NM_018100.4(EFHC1):c.140T>A (p.Ile47Lys) rs368839861 0.00001
NM_018136.5(ASPM):c.1802G>T (p.Arg601Ile) rs766146033 0.00001
NM_018136.5(ASPM):c.2792G>A (p.Arg931Gln) rs764854489 0.00001
NM_018136.5(ASPM):c.4048G>A (p.Ala1350Thr) rs758550029 0.00001
NM_018136.5(ASPM):c.4520A>G (p.Tyr1507Cys) rs751358312 0.00001
NM_018319.4(TDP1):c.1434-9T>C rs768026182 0.00001
NM_018319.4(TDP1):c.148G>A (p.Glu50Lys) rs781564388 0.00001
NM_018319.4(TDP1):c.346A>G (p.Ile116Val) rs370785146 0.00001
NM_018319.4(TDP1):c.802C>G (p.Leu268Val) rs764936943 0.00001
NM_018319.4(TDP1):c.914T>C (p.Ile305Thr) rs367992333 0.00001
NM_018723.4(RBFOX1):c.733A>T (p.Ser245Cys) rs1568184362 0.00001
NM_020247.5(COQ8A):c.1706C>A (p.Ala569Asp) rs765235707 0.00001
NM_020247.5(COQ8A):c.314C>A (p.Pro105Gln) rs751042244 0.00001
NM_020247.5(COQ8A):c.335G>A (p.Ser112Asn) rs147889685 0.00001
NM_020247.5(COQ8A):c.344C>G (p.Pro115Arg) rs746577141 0.00001
NM_020247.5(COQ8A):c.358G>A (p.Val120Met) rs376347405 0.00001
NM_020361.5(CPA6):c.173A>G (p.Lys58Arg) rs1400065970 0.00001
NM_020822.3(KCNT1):c.1150G>A (p.Asp384Asn) rs762752381 0.00001
NM_020822.3(KCNT1):c.2244-10C>T rs758069398 0.00001
NM_020822.3(KCNT1):c.274G>A (p.Val92Ile) rs776233220 0.00001
NM_020822.3(KCNT1):c.3660C>G (p.His1220Gln) rs868847760 0.00001
NM_020919.4(ALS2):c.1178A>G (p.Asn393Ser) rs1693481434 0.00001
NM_020919.4(ALS2):c.146G>T (p.Gly49Val) rs1461116724 0.00001
NM_020975.6(RET):c.2137-13A>G rs1314541806 0.00001
NM_021008.4(DEAF1):c.1621G>A (p.Gly541Ser) rs771661969 0.00001
NM_021098.3(CACNA1H):c.1624G>A (p.Glu542Lys) rs761025927 0.00001
NM_021098.3(CACNA1H):c.1663G>A (p.Ala555Thr) rs1056058034 0.00001
NM_021098.3(CACNA1H):c.1996G>A (p.Glu666Lys) rs772141645 0.00001
NM_021098.3(CACNA1H):c.2192C>T (p.Thr731Met) rs779476529 0.00001
NM_021098.3(CACNA1H):c.2395A>G (p.Ile799Val) rs1216897674 0.00001
NM_021098.3(CACNA1H):c.4156G>A (p.Ala1386Thr) rs766694151 0.00001
NM_021098.3(CACNA1H):c.86C>T (p.Ser29Phe) rs1443348691 0.00001
NM_021098.3(CACNA1H):c.992G>A (p.Gly331Asp) rs747326278 0.00001
NM_021625.5(TRPV4):c.1064G>A (p.Arg355His) rs764715510 0.00001
NM_021625.5(TRPV4):c.1390C>T (p.Arg464Cys) rs373049874 0.00001
NM_021625.5(TRPV4):c.1478C>T (p.Pro493Leu) rs757284253 0.00001
NM_021625.5(TRPV4):c.1658+5G>A rs756714651 0.00001
NM_021625.5(TRPV4):c.2452C>T (p.Arg818Cys) rs776544875 0.00001
NM_021625.5(TRPV4):c.2458G>T (p.Asp820Tyr) rs768849310 0.00001
NM_021625.5(TRPV4):c.345C>G (p.His115Gln) rs1420465373 0.00001
NM_021830.5(TWNK):c.1510G>A (p.Ala504Thr) rs863223923 0.00001
NM_021830.5(TWNK):c.908G>A (p.Arg303Gln) rs137852956 0.00001
NM_021942.6(TRAPPC11):c.1349G>A (p.Arg450Gln) rs201387237 0.00001
NM_021942.6(TRAPPC11):c.2093G>A (p.Cys698Tyr) rs773726834 0.00001
NM_021942.6(TRAPPC11):c.3236A>G (p.Asn1079Ser) rs898762603 0.00001
NM_022124.6(CDH23):c.6707A>G (p.Asn2236Ser) rs545514111 0.00001
NM_022464.5(SIL1):c.272T>C (p.Val91Ala) rs1461916800 0.00001
NM_024301.5(FKRP):c.517G>A (p.Val173Ile) rs1322879846 0.00001
NM_024334.3(TMEM43):c.700C>T (p.Pro234Ser) rs374202326 0.00001
NM_024411.5(PDYN):c.321G>T (p.Glu107Asp) rs761883755 0.00001
NM_024411.5(PDYN):c.571G>T (p.Gly191Trp) rs767807436 0.00001
NM_024411.5(PDYN):c.592A>T (p.Met198Leu) rs745446529 0.00001
NM_024411.5(PDYN):c.632T>C (p.Leu211Ser) rs267606940 0.00001
NM_024577.4(SH3TC2):c.1002-5T>A rs769711653 0.00001
NM_024577.4(SH3TC2):c.1325C>T (p.Pro442Leu) rs370613184 0.00001
NM_024577.4(SH3TC2):c.1431G>A (p.Glu477=) rs887057321 0.00001
NM_024577.4(SH3TC2):c.2083C>G (p.Gln695Glu) rs770170997 0.00001
NM_024577.4(SH3TC2):c.2581C>T (p.Arg861Trp) rs147490172 0.00001
NM_024577.4(SH3TC2):c.3143T>C (p.Leu1048Pro) rs537759361 0.00001
NM_024577.4(SH3TC2):c.82G>C (p.Val28Leu) rs1399431033 0.00001
NM_025137.4(SPG11):c.3884A>G (p.Glu1295Gly) rs747199399 0.00001
NM_025137.4(SPG11):c.4107T>A (p.Asn1369Lys) rs200700774 0.00001
NM_025137.4(SPG11):c.4757C>G (p.Ala1586Gly) rs1332100392 0.00001
NM_030962.4(SBF2):c.3097A>G (p.Asn1033Asp) rs1258242566 0.00001
NM_030962.4(SBF2):c.3278C>T (p.Pro1093Leu) rs762973514 0.00001
NM_030962.4(SBF2):c.4247T>C (p.Ile1416Thr) rs370601742 0.00001
NM_030962.4(SBF2):c.5323C>T (p.Arg1775Cys) rs938347502 0.00001
NM_030962.4(SBF2):c.5365A>G (p.Ile1789Val) rs746542104 0.00001
NM_032119.4(ADGRV1):c.10801A>G (p.Arg3601Gly) rs771934458 0.00001
NM_032119.4(ADGRV1):c.10882C>T (p.Pro3628Ser) rs564470089 0.00001
NM_032119.4(ADGRV1):c.12979G>A (p.Gly4327Arg) rs1251839466 0.00001
NM_032119.4(ADGRV1):c.2307T>A (p.Asn769Lys) rs775205741 0.00001
NM_032119.4(ADGRV1):c.2800C>G (p.Pro934Ala) rs149600158 0.00001
NM_032119.4(ADGRV1):c.323C>G (p.Pro108Arg) rs1158908533 0.00001
NM_032119.4(ADGRV1):c.3346G>T (p.Asp1116Tyr) rs761253411 0.00001
NM_032119.4(ADGRV1):c.6728T>C (p.Ile2243Thr) rs1050561499 0.00001
NM_032119.4(ADGRV1):c.7007G>A (p.Arg2336Gln) rs755180090 0.00001
NM_032551.5(KISS1R):c.369+5G>A rs1002693684 0.00001
NM_033109.5(PNPT1):c.337C>T (p.Pro113Ser) rs930190521 0.00001
NM_033305.3(VPS13A):c.610C>T (p.Arg204Cys) rs752509925 0.00001
NM_033305.3(VPS13A):c.6785T>C (p.Met2262Thr) rs763311249 0.00001
NM_033305.3(VPS13A):c.8233A>G (p.Ile2745Val) rs780530847 0.00001
NM_033380.3(COL4A5):c.4693C>G (p.Pro1565Ala) rs104886295 0.00001
NM_033380.3(COL4A5):c.4726C>G (p.Pro1576Ala) rs747041833 0.00001
NM_033380.3(COL4A5):c.4891C>T (p.Arg1631Cys) rs865842167 0.00001
NM_033629.6(TREX1):c.226G>T (p.Ala76Ser) rs986003279 0.00001
NM_058246.4(DNAJB6):c.203A>G (p.Tyr68Cys) rs531186856 0.00001
NM_130837.3(OPA1):c.326T>C (p.Val109Ala) rs77173739 0.00001
NM_130839.5(UBE3A):c.1754-4A>G rs780429591 0.00001
NM_133433.4(NIPBL):c.2261G>T (p.Arg754Leu) rs748268539 0.00001
NM_133433.4(NIPBL):c.2423G>A (p.Arg808Gln) rs142574933 0.00001
NM_138477.4(CDAN1):c.1867C>T (p.Arg623Trp) rs141007889 0.00001
NM_138691.3(TMC1):c.1029+3A>G rs1588083737 0.00001
NM_144498.4(OSBPL2):c.366C>G (p.Cys122Trp) rs770358849 0.00001
NM_144991.3(TSPEAR):c.1330C>T (p.Arg444Trp) rs782352724 0.00001
NM_145309.6(LRTOMT):c.315T>C (p.Ser105=) rs535642551 0.00001
NM_152393.4(KLHL40):c.1381A>G (p.Met461Val) rs776547008 0.00001
NM_152393.4(KLHL40):c.395A>G (p.Asn132Ser) rs767039942 0.00001
NM_152564.5(VPS13B):c.11087G>A (p.Arg3696Gln) rs757726642 0.00001
NM_152564.5(VPS13B):c.8041G>A (p.Gly2681Ser) rs762186948 0.00001
NM_152564.5(VPS13B):c.8680A>G (p.Ile2894Val) rs1272294316 0.00001
NM_153026.3(PRICKLE1):c.1324C>T (p.His442Tyr) rs1420840004 0.00001
NM_153026.3(PRICKLE1):c.668C>T (p.Thr223Met) rs754218148 0.00001
NM_153033.5(KCTD7):c.61T>G (p.Ser21Ala) rs753471689 0.00001
NM_153033.5(KCTD7):c.68C>T (p.Ala23Val) rs745360140 0.00001
NM_170707.4(LMNA):c.1280G>A (p.Arg427His) rs747139279 0.00001
NM_170707.4(LMNA):c.1786G>A (p.Asp596Asn) rs769561386 0.00001
NM_170707.4(LMNA):c.65C>T (p.Ser22Leu) rs1016767319 0.00001
NM_170707.4(LMNA):c.662G>A (p.Arg221His) rs372567202 0.00001
NM_170707.4(LMNA):c.7A>G (p.Thr3Ala) rs1183004393 0.00001
NM_170707.4(LMNA):c.953C>T (p.Ala318Val) rs1212920276 0.00001
NM_171998.4(RAB39B):c.386C>T (p.Thr129Ile) rs1557314226 0.00001
NM_173500.4(TTBK2):c.1126C>T (p.Arg376Cys) rs759216076 0.00001
NM_173500.4(TTBK2):c.1261G>A (p.Gly421Arg) rs1889964761 0.00001
NM_173500.4(TTBK2):c.1360C>T (p.Arg454Cys) rs758352842 0.00001
NM_173500.4(TTBK2):c.1399C>T (p.Leu467Phe) rs377471302 0.00001
NM_173500.4(TTBK2):c.1895A>T (p.Gln632Leu) rs779249410 0.00001
NM_173500.4(TTBK2):c.3035C>T (p.Ala1012Val) rs752316838 0.00001
NM_173500.4(TTBK2):c.3130A>G (p.Ile1044Val) rs1439802446 0.00001
NM_173500.4(TTBK2):c.3427A>G (p.Ser1143Gly) rs777159553 0.00001
NM_173500.4(TTBK2):c.3431C>T (p.Pro1144Leu) rs2061791659 0.00001
NM_173660.5(DOK7):c.1446G>A (p.Ala482=) rs773592493 0.00001
NM_175914.5(HNF4A):c.196G>A (p.Val66Met) rs369182343 0.00001
NM_175914.5(HNF4A):c.457G>A (p.Asp153Asn) rs1427687409 0.00001
NM_175914.5(HNF4A):c.733C>T (p.Arg245Cys) rs1290868034 0.00001
NM_175914.5(HNF4A):c.76C>A (p.Leu26Ile) rs753285226 0.00001
NM_175914.5(HNF4A):c.925C>T (p.Arg309Cys) rs193922479 0.00001
NM_175929.3(FGF14):c.142A>T (p.Ser48Cys) rs756852215 0.00001
NM_177550.5(SLC13A5):c.402C>T (p.Leu134=) rs1336828226 0.00001
NM_178013.4(PRIMA1):c.87C>G (p.Phe29Leu) rs1474313538 0.00001
NM_181882.3(PRX):c.1925C>T (p.Pro642Leu) rs751935470 0.00001
NM_181882.3(PRX):c.2252C>T (p.Ser751Leu) rs570569581 0.00001
NM_181882.3(PRX):c.3640C>T (p.Pro1214Ser) rs1303392170 0.00001
NM_181882.3(PRX):c.4232G>T (p.Arg1411Leu) rs1005254872 0.00001
NM_181882.3(PRX):c.707T>C (p.Leu236Pro) rs876661240 0.00001
NM_182914.3(SYNE2):c.10536C>A (p.Asp3512Glu) rs557133901 0.00001
NM_182914.3(SYNE2):c.11539G>A (p.Asp3847Asn) rs376684112 0.00001
NM_182914.3(SYNE2):c.14801A>G (p.His4934Arg) rs758936935 0.00001
NM_182914.3(SYNE2):c.18862G>A (p.Gly6288Ser) rs2098648256 0.00001
NM_182914.3(SYNE2):c.19559C>T (p.Pro6520Leu) rs1372094522 0.00001
NM_182914.3(SYNE2):c.20115C>G (p.Asn6705Lys) rs199800249 0.00001
NM_182914.3(SYNE2):c.7028A>G (p.Glu2343Gly) rs770601583 0.00001
NM_182961.4(SYNE1):c.10639G>A (p.Ala3547Thr) rs1395813698 0.00001
NM_182961.4(SYNE1):c.10709G>C (p.Arg3570Pro) rs751191478 0.00001
NM_182961.4(SYNE1):c.10730A>C (p.Gln3577Pro) rs757925072 0.00001
NM_182961.4(SYNE1):c.10750C>T (p.His3584Tyr) rs752209637 0.00001
NM_182961.4(SYNE1):c.11031C>T (p.Cys3677=) rs2096781049 0.00001
NM_182961.4(SYNE1):c.11521G>A (p.Val3841Ile) rs1323758453 0.00001
NM_182961.4(SYNE1):c.11726T>C (p.Ile3909Thr) rs772794050 0.00001
NM_182961.4(SYNE1):c.12217A>G (p.Ile4073Val) rs886044158 0.00001
NM_182961.4(SYNE1):c.13310T>C (p.Leu4437Pro) rs745789075 0.00001
NM_182961.4(SYNE1):c.13373T>G (p.Phe4458Cys) rs764410604 0.00001
NM_182961.4(SYNE1):c.13375C>T (p.Leu4459Phe) rs1180692276 0.00001
NM_182961.4(SYNE1):c.13433T>C (p.Phe4478Ser) rs886042314 0.00001
NM_182961.4(SYNE1):c.13555G>A (p.Glu4519Lys) rs571224180 0.00001
NM_182961.4(SYNE1):c.13580A>G (p.Gln4527Arg) rs747550581 0.00001
NM_182961.4(SYNE1):c.13832A>C (p.Gln4611Pro) rs762392590 0.00001
NM_182961.4(SYNE1):c.13901A>G (p.Asn4634Ser) rs1362233016 0.00001
NM_182961.4(SYNE1):c.13989C>A (p.Phe4663Leu) rs1166869172 0.00001
NM_182961.4(SYNE1):c.13991A>G (p.Tyr4664Cys) rs367979558 0.00001
NM_182961.4(SYNE1):c.14530C>A (p.Pro4844Thr) rs747838657 0.00001
NM_182961.4(SYNE1):c.14590G>A (p.Glu4864Lys) rs752922869 0.00001
NM_182961.4(SYNE1):c.14683C>T (p.Arg4895Cys) rs776494157 0.00001
NM_182961.4(SYNE1):c.14955G>C (p.Gln4985His) rs890021376 0.00001
NM_182961.4(SYNE1):c.15116T>C (p.Phe5039Ser) rs780617133 0.00001
NM_182961.4(SYNE1):c.1544T>A (p.Leu515Gln) rs544309811 0.00001
NM_182961.4(SYNE1):c.15494A>T (p.Lys5165Ile) rs199760899 0.00001
NM_182961.4(SYNE1):c.15908G>C (p.Arg5303Pro) rs537825329 0.00001
NM_182961.4(SYNE1):c.16237-10A>T rs201078255 0.00001
NM_182961.4(SYNE1):c.16409A>G (p.Asp5470Gly) rs747824937 0.00001
NM_182961.4(SYNE1):c.1723G>T (p.Gly575Cys) rs143408582 0.00001
NM_182961.4(SYNE1):c.17443C>G (p.Leu5815Val) rs987594036 0.00001
NM_182961.4(SYNE1):c.17533G>A (p.Val5845Met) rs535699185 0.00001
NM_182961.4(SYNE1):c.17851-7G>T rs776806501 0.00001
NM_182961.4(SYNE1):c.18053A>G (p.Asn6018Ser) rs774683772 0.00001
NM_182961.4(SYNE1):c.18073G>A (p.Ala6025Thr) rs886042460 0.00001
NM_182961.4(SYNE1):c.18513G>T (p.Arg6171Ser) rs764725032 0.00001
NM_182961.4(SYNE1):c.18659G>A (p.Arg6220His) rs377307244 0.00001
NM_182961.4(SYNE1):c.18761G>A (p.Arg6254His) rs752272082 0.00001
NM_182961.4(SYNE1):c.18842A>C (p.Glu6281Ala) rs965275563 0.00001
NM_182961.4(SYNE1):c.19243T>G (p.Cys6415Gly) rs1398807335 0.00001
NM_182961.4(SYNE1):c.19303A>G (p.Lys6435Glu) rs1433787324 0.00001
NM_182961.4(SYNE1):c.19470+5G>A rs775233950 0.00001
NM_182961.4(SYNE1):c.19586C>T (p.Ala6529Val) rs1413633616 0.00001
NM_182961.4(SYNE1):c.19888C>T (p.His6630Tyr) rs1172865347 0.00001
NM_182961.4(SYNE1):c.20549A>T (p.Asp6850Val) rs773506774 0.00001
NM_182961.4(SYNE1):c.2168T>C (p.Phe723Ser) rs1348902701 0.00001
NM_182961.4(SYNE1):c.21907C>T (p.Leu7303Phe) rs753138419 0.00001
NM_182961.4(SYNE1):c.22492G>A (p.Glu7498Lys) rs762050668 0.00001
NM_182961.4(SYNE1):c.22942G>A (p.Ala7648Thr) rs778126141 0.00001
NM_182961.4(SYNE1):c.23006C>A (p.Ala7669Asp) rs1452906754 0.00001
NM_182961.4(SYNE1):c.23145+6T>G rs794727081 0.00001
NM_182961.4(SYNE1):c.23444T>C (p.Ile7815Thr) rs1391158473 0.00001
NM_182961.4(SYNE1):c.23866G>A (p.Asp7956Asn) rs774220095 0.00001
NM_182961.4(SYNE1):c.24283C>T (p.Arg8095Cys) rs200118773 0.00001
NM_182961.4(SYNE1):c.25007G>A (p.Arg8336Gln) rs200684943 0.00001
NM_182961.4(SYNE1):c.25489G>A (p.Ala8497Thr) rs777390431 0.00001
NM_182961.4(SYNE1):c.25601T>C (p.Val8534Ala) rs746452797 0.00001
NM_182961.4(SYNE1):c.25735A>G (p.Ile8579Val) rs200178554 0.00001
NM_182961.4(SYNE1):c.26237G>A (p.Arg8746Gln) rs757466963 0.00001
NM_182961.4(SYNE1):c.2693A>T (p.Gln898Leu) rs898451919 0.00001
NM_182961.4(SYNE1):c.2809G>A (p.Ala937Thr) rs570242828 0.00001
NM_182961.4(SYNE1):c.2959G>A (p.Asp987Asn) rs1374710512 0.00001
NM_182961.4(SYNE1):c.3061C>T (p.His1021Tyr) rs373161596 0.00001
NM_182961.4(SYNE1):c.310-469C>T rs762351812 0.00001
NM_182961.4(SYNE1):c.3925C>G (p.Arg1309Gly) rs1412425061 0.00001
NM_182961.4(SYNE1):c.3943C>T (p.Arg1315Trp) rs747574901 0.00001
NM_182961.4(SYNE1):c.4044C>T (p.Asn1348=) rs765010255 0.00001
NM_182961.4(SYNE1):c.6154T>C (p.Phe2052Leu) rs147511500 0.00001
NM_182961.4(SYNE1):c.6184C>T (p.Arg2062Cys) rs746057788 0.00001
NM_182961.4(SYNE1):c.6565A>G (p.Met2189Val) rs1220473900 0.00001
NM_182961.4(SYNE1):c.6974A>G (p.Glu2325Gly) rs777595583 0.00001
NM_182961.4(SYNE1):c.7139G>A (p.Arg2380His) rs554035671 0.00001
NM_182961.4(SYNE1):c.7587A>G (p.Leu2529=) rs141499089 0.00001
NM_182961.4(SYNE1):c.7625A>G (p.Asn2542Ser) rs1215589518 0.00001
NM_182961.4(SYNE1):c.7756G>A (p.Glu2586Lys) rs776873775 0.00001
NM_182961.4(SYNE1):c.7786C>T (p.Arg2596Cys) rs768574390 0.00001
NM_182961.4(SYNE1):c.8625C>T (p.Ala2875=) rs759736838 0.00001
NM_182961.4(SYNE1):c.8918G>A (p.Ser2973Asn) rs766072795 0.00001
NM_182961.4(SYNE1):c.9194T>C (p.Leu3065Ser) rs2097283921 0.00001
NM_194248.3(OTOF):c.2246T>A (p.Ile749Asn) rs372085440 0.00001
NM_194248.3(OTOF):c.2438G>A (p.Arg813Gln) rs767282723 0.00001
NM_198586.3(NHLRC1):c.218G>A (p.Arg73Gln) rs1280991443 0.00001
NM_198859.4(PRICKLE2):c.413A>G (p.Asn138Ser) rs1247504361 0.00001
NM_198904.4(GABRG2):c.1172G>A (p.Arg391His) rs528036202 0.00001
NM_198994.3(TGM6):c.1282G>T (p.Ala428Ser) rs556958028 0.00001
NM_198994.3(TGM6):c.1304T>C (p.Val435Ala) rs774694098 0.00001
NM_198994.3(TGM6):c.1384T>C (p.Phe462Leu) rs199968743 0.00001
NM_198994.3(TGM6):c.1600G>A (p.Ala534Thr) rs368369881 0.00001
NM_198994.3(TGM6):c.1967+1G>A rs747702159 0.00001
NM_198994.3(TGM6):c.573C>G (p.Leu191=) rs1347908694 0.00001
NM_198994.3(TGM6):c.644T>C (p.Ile215Thr) rs376370167 0.00001
NM_198994.3(TGM6):c.728G>C (p.Gly243Ala) rs751595281 0.00001
NM_198994.3(TGM6):c.733G>A (p.Gly245Ser) rs1288465164 0.00001
NM_198994.3(TGM6):c.982A>G (p.Ser328Gly) rs1271717343 0.00001
NM_198999.3(SLC26A5):c.28C>T (p.Leu10Phe) rs1375742194 0.00001
NM_201384.3(PLEC):c.1086C>G (p.His362Gln) rs1221901115 0.00001
NM_201384.3(PLEC):c.12026G>A (p.Arg4009His) rs564907731 0.00001
NM_201384.3(PLEC):c.12747G>A (p.Ser4249=) rs782377686 0.00001
NM_201384.3(PLEC):c.2035G>A (p.Gly679Arg) rs1554716477 0.00001
NM_201384.3(PLEC):c.2127G>C (p.Gln709His) rs1303759485 0.00001
NM_201384.3(PLEC):c.2843C>G (p.Pro948Arg) rs537345370 0.00001
NM_201384.3(PLEC):c.3081+9C>T rs371983298 0.00001
NM_201384.3(PLEC):c.3356C>T (p.Pro1119Leu) rs782567448 0.00001
NM_201384.3(PLEC):c.4657C>T (p.Arg1553Trp) rs781820448 0.00001
NM_201384.3(PLEC):c.4717A>G (p.Ser1573Gly) rs1212000414 0.00001
NM_201384.3(PLEC):c.5020C>T (p.Arg1674Trp) rs782306391 0.00001
NM_201384.3(PLEC):c.5131G>A (p.Ala1711Thr) rs781937167 0.00001
NM_201384.3(PLEC):c.5410G>A (p.Ala1804Thr) rs984387491 0.00001
NM_201384.3(PLEC):c.5741A>G (p.Glu1914Gly) rs782280540 0.00001
NM_201384.3(PLEC):c.5938G>A (p.Glu1980Lys) rs782334814 0.00001
NM_201384.3(PLEC):c.6415C>T (p.Arg2139Cys) rs782717631 0.00001
NM_201384.3(PLEC):c.6530C>T (p.Thr2177Met) rs1312954051 0.00001
NM_201384.3(PLEC):c.6754C>T (p.Arg2252Cys) rs782530517 0.00001
NM_201384.3(PLEC):c.6845G>A (p.Arg2282Gln) rs782316711 0.00001
NM_201384.3(PLEC):c.8626G>A (p.Glu2876Lys) rs782517831 0.00001
NM_201384.3(PLEC):c.8639G>A (p.Cys2880Tyr) rs782789906 0.00001
NM_201384.3(PLEC):c.9301G>A (p.Ala3101Thr) rs1554682090 0.00001
NM_201384.3(PLEC):c.9919G>A (p.Gly3307Ser) rs782021653 0.00001
NM_203446.3(SYNJ1):c.*232C>T rs373563239 0.00001
NM_206933.4(USH2A):c.10182G>A (p.Lys3394=) rs751903445 0.00001
NM_206933.4(USH2A):c.2761C>A (p.Leu921Met) rs772211390 0.00001
NM_213599.3(ANO5):c.1031C>G (p.Pro344Arg) rs541372136 0.00001
NM_213599.3(ANO5):c.265G>T (p.Asp89Tyr) rs766228901 0.00001
NM_213599.3(ANO5):c.87G>A (p.Glu29=) rs1554919178 0.00001
NC_000007.14:g.44153459_44153467del
NC_012920.1(MT-CO1):m.6899G>C rs1556423194
NC_012920.1(MT-CO1):m.6951G>A rs1603220711
NC_012920.1(MT-CO2):m.7724A>T rs1553139599
NC_012920.1(MT-CO2):m.7746A>G rs1603221113
NC_012920.1(MT-CYB):m.12217A>G rs1556424082
NC_012920.1(MT-CYB):m.1257T>C rs1603218535
NC_012920.1(MT-CYB):m.1282G>A rs1569483805
NC_012920.1(MT-RNR1):m.1118A>G
NC_012920.1(MT-TK):m.8302A>G
NM_000021.4(PSEN1):c.1141C>A (p.Leu381Ile) rs63750687
NM_000021.4(PSEN1):c.1158C>A (p.Phe386Leu) rs1555358095
NM_000021.4(PSEN1):c.1184A>T (p.Lys395Ile)
NM_000021.4(PSEN1):c.1292C>T (p.Ala431Val) rs63750083
NM_000021.4(PSEN1):c.389T>C (p.Leu130Pro) rs1566630838
NM_000021.4(PSEN1):c.525C>G (p.Phe175Leu) rs1566638724
NM_000021.4(PSEN1):c.703C>G (p.Leu235Val) rs63751130
NM_000021.4(PSEN1):c.715A>G (p.Lys239Glu) rs1595035012
NM_000021.4(PSEN1):c.779C>G (p.Ala260Gly)
NM_000021.4(PSEN1):c.782T>C (p.Val261Ala) rs199723282
NM_000023.4(SGCA):c.49G>A (p.Gly17Arg) rs573792379
NM_000033.4(ABCD1):c.1072T>C (p.Ser358Pro)
NM_000033.4(ABCD1):c.1082-23C>G rs2148395325
NM_000033.4(ABCD1):c.1224G>C (p.Glu408Asp) rs2148395507
NM_000033.4(ABCD1):c.1237G>C (p.Ala413Pro) rs1569541011
NM_000033.4(ABCD1):c.1448C>T (p.Thr483Met) rs1569541035
NM_000033.4(ABCD1):c.1763T>A (p.Ile588Asn) rs1569541122
NM_000033.4(ABCD1):c.1832A>G (p.Gln611Arg) rs1569541194
NM_000033.4(ABCD1):c.355G>C (p.Ala119Pro) rs781846746
NM_000033.4(ABCD1):c.653C>T (p.Pro218Leu) rs1569540710
NM_000051.4(ATM):c.*5del
NM_000051.4(ATM):c.1025A>G (p.Lys342Arg) rs1064794119
NM_000051.4(ATM):c.1075G>A (p.Glu359Lys) rs2079988487
NM_000051.4(ATM):c.1219_1221dup (p.Phe407dup) rs1064792998
NM_000051.4(ATM):c.1235+4_1235+5del rs770033355
NM_000051.4(ATM):c.1295T>A (p.Leu432Gln) rs546621356
NM_000051.4(ATM):c.2250+7G>A rs752009031
NM_000051.4(ATM):c.2386A>T (p.Asn796Tyr) rs201793499
NM_000051.4(ATM):c.2987A>G (p.His996Arg) rs876660034
NM_000051.4(ATM):c.3063A>G (p.Val1021=) rs1591604752
NM_000051.4(ATM):c.3394A>G (p.Arg1132Gly) rs1591632541
NM_000051.4(ATM):c.354A>G (p.Gln118=) rs1188306380
NM_000051.4(ATM):c.3834C>A (p.Asp1278Glu) rs534864280
NM_000051.4(ATM):c.4070C>A (p.Ser1357Tyr) rs730881390
NM_000051.4(ATM):c.421T>G (p.Cys141Gly) rs1565357020
NM_000051.4(ATM):c.4534G>A (p.Ala1512Thr) rs1060501653
NM_000051.4(ATM):c.4910A>G (p.Asp1637Gly) rs763457172
NM_000051.4(ATM):c.5062A>G (p.Ile1688Val) rs766053182
NM_000051.4(ATM):c.5392C>G (p.Leu1798Val) rs879254274
NM_000051.4(ATM):c.5675-7_5675-4del rs1189695629
NM_000051.4(ATM):c.5822T>G (p.Val1941Gly) rs876660334
NM_000051.4(ATM):c.5887G>A (p.Asp1963Asn) rs864622148
NM_000051.4(ATM):c.61A>G (p.Thr21Ala) rs1565344141
NM_000051.4(ATM):c.6248G>C (p.Gly2083Ala) rs1060501559
NM_000051.4(ATM):c.643A>G (p.Lys215Glu) rs2079708238
NM_000051.4(ATM):c.6583C>T (p.His2195Tyr) rs780946471
NM_000051.4(ATM):c.6859G>A (p.Gly2287Arg) rs1181779478
NM_000051.4(ATM):c.6878T>C (p.Leu2293Pro) rs1450429233
NM_000051.4(ATM):c.6975+4T>G rs876660240
NM_000051.4(ATM):c.6975G>A (p.Ala2325=) rs556778314
NM_000051.4(ATM):c.6975G>C (p.Ala2325=) rs556778314
NM_000051.4(ATM):c.7235A>G (p.Asn2412Ser) rs786203311
NM_000051.4(ATM):c.7339T>G (p.Leu2447Val) rs1591159997
NM_000051.4(ATM):c.7375C>G (p.Arg2459Gly) rs730881383
NM_000051.4(ATM):c.743G>A (p.Arg248Gln) rs769166447
NM_000051.4(ATM):c.75A>G (p.Lys25=) rs1591446716
NM_000051.4(ATM):c.8187A>T (p.Gln2729His) rs587781946
NM_000051.4(ATM):c.8311A>G (p.Thr2771Ala) rs876660587
NM_000051.4(ATM):c.8486C>A (p.Pro2829Gln) rs938431501
NM_000051.4(ATM):c.8495G>T (p.Arg2832Leu) rs529296539
NM_000051.4(ATM):c.8536T>C (p.Phe2846Leu) rs1591265229
NM_000051.4(ATM):c.8917A>G (p.Arg2973Gly) rs1555151352
NM_000052.7(ATP7A):c.1814A>G (p.His605Arg) rs1020034878
NM_000052.7(ATP7A):c.4489G>A (p.Asp1497Asn)
NM_000054.7(AVPR2):c.503T>G (p.Leu168Arg) rs1557100711
NM_000068.4(CACNA1A):c.4970_4987del
NM_000070.3(CAPN3):c.1516A>C (p.Ile506Leu) rs140828326
NM_000070.3(CAPN3):c.1664T>A (p.Val555Asp) rs2141203159
NM_000070.3(CAPN3):c.309+4A>C rs1566966120
NM_000070.3(CAPN3):c.600C>G (p.Phe200Leu)
NM_000079.4(CHRNA1):c.-6T>C
NM_000079.4(CHRNA1):c.1312T>C (p.Cys438Arg)
NM_000080.4(CHRNE):c.384_389del (p.Leu129_Val130del) rs1555546980
NM_000080.4(CHRNE):c.421C>A (p.Pro141Thr) rs483353045
NM_000083.3(CLCN1):c.1003A>G (p.Thr335Ala) rs2116852900
NM_000083.3(CLCN1):c.1090G>A (p.Val364Ile)
NM_000083.3(CLCN1):c.1129C>G (p.Arg377Gly)
NM_000083.3(CLCN1):c.1166+5G>A rs1586497958
NM_000083.3(CLCN1):c.1262G>T (p.Arg421Leu) rs780834658
NM_000083.3(CLCN1):c.1295C>G (p.Thr432Arg) rs1563080014
NM_000083.3(CLCN1):c.1416C>A (p.Ile472=) rs372034290
NM_000083.3(CLCN1):c.1445G>A (p.Gly482Glu) rs1380726444
NM_000083.3(CLCN1):c.1454T>G (p.Met485Arg) rs1586507590
NM_000083.3(CLCN1):c.1568G>T (p.Gly523Val) rs1460714146
NM_000083.3(CLCN1):c.1571A>G (p.Tyr524Cys) rs1563083476
NM_000083.3(CLCN1):c.1630G>A (p.Val544Met) rs1554438433
NM_000083.3(CLCN1):c.1652G>A (p.Gly551Asp) rs1563084603
NM_000083.3(CLCN1):c.1697C>T (p.Ala566Val) rs2116373070
NM_000083.3(CLCN1):c.1873_1882delinsG (p.Leu625_Leu628delinsVal)
NM_000083.3(CLCN1):c.1948G>A (p.Gly650Ser) rs1181586555
NM_000083.3(CLCN1):c.2099C>A (p.Ala700Glu)
NM_000083.3(CLCN1):c.2404-9G>A
NM_000083.3(CLCN1):c.2461_2464delinsCTCC (p.Ile821_Asp822delinsLeuHis) rs2116396889
NM_000083.3(CLCN1):c.2471C>A (p.Ser824Tyr) rs1803362038
NM_000083.3(CLCN1):c.2530_2532del (p.Leu844del) rs1563090152
NM_000083.3(CLCN1):c.2694G>T (p.Gly898=) rs1803411706
NM_000083.3(CLCN1):c.2782G>A (p.Glu928Lys) rs1803416147
NM_000083.3(CLCN1):c.281A>T (p.Asp94Val) rs1586483178
NM_000083.3(CLCN1):c.2872G>T (p.Glu958Ter)
NM_000083.3(CLCN1):c.2959A>C (p.Ile987Leu)
NM_000083.3(CLCN1):c.392T>A (p.Val131Asp) rs769391461
NM_000083.3(CLCN1):c.514A>T (p.Ile172Phe) rs992335710
NM_000083.3(CLCN1):c.586A>T (p.Thr196Ser) rs1802442547
NM_000083.3(CLCN1):c.661G>A (p.Ala221Thr)
NM_000083.3(CLCN1):c.680T>A (p.Ile227Asn) rs1802446540
NM_000083.3(CLCN1):c.779C>T (p.Pro260Leu) rs1554435319
NM_000083.3(CLCN1):c.799C>T (p.Leu267=) rs1563075864
NM_000083.3(CLCN1):c.809G>A (p.Gly270Asp) rs1490537212
NM_000083.3(CLCN1):c.811T>C (p.Cys271Arg) rs1554435334
NM_000083.3(CLCN1):c.818T>C (p.Val273Ala) rs1586489367
NM_000083.3(CLCN1):c.824T>C (p.Val275Ala)
NM_000083.3(CLCN1):c.825C>T (p.Val275=)
NM_000083.3(CLCN1):c.905A>G (p.Tyr302Cys) rs1563078716
NM_000083.3(CLCN1):c.987C>G (p.Ile329Met) rs140664749
NM_000085.5(CLCNKB):c.656-9C>T
NM_000085.5(CLCNKB):c.891C>A (p.Ser297Arg) rs565165729
NM_000088.4(COL1A1):c.1433C>G (p.Thr478Ser)
NM_000088.4(COL1A1):c.1515+19C>T
NM_000088.4(COL1A1):c.2838T>G (p.Pro946=) rs1555572418
NM_000088.4(COL1A1):c.3208-19C>T
NM_000088.4(COL1A1):c.3585T>C (p.Gly1195=) rs1906585690
NM_000089.4(COL1A2):c.2428C>T (p.Pro810Ser) rs779393490
NM_000089.4(COL1A2):c.3772C>T (p.Arg1258Cys) rs766273613
NM_000089.4(COL1A2):c.975A>C (p.Gly325=) rs148063325
NM_000091.5(COL4A3):c.2223G>A (p.Lys741=) rs1574774667
NM_000091.5(COL4A3):c.2381C>T (p.Pro794Leu) rs1559895213
NM_000091.5(COL4A3):c.5010_*14del (p.His1670_Ter1671delinsXaa) rs765655100
NM_000091.5(COL4A3):c.87+8G>C
NM_000092.5(COL4A4):c.1871C>T (p.Ala624Val) rs2150476651
NM_000092.5(COL4A4):c.1987+4A>G rs1559562567
NM_000092.5(COL4A4):c.4550T>C (p.Phe1517Ser) rs1575697378
NM_000092.5(COL4A4):c.680G>A (p.Arg227His) rs368248078
NM_000100.4(CSTB):c.67-4C>G rs2084002305
NM_000110.4(DPYD):c.1310C>T (p.Ala437Val) rs1290815802
NM_000110.4(DPYD):c.1654A>G (p.Thr552Ala) rs771648776
NM_000122.2(ERCC3):c.1291A>C (p.Lys431Gln) rs1573957226
NM_000144.5(FXN):c.125T>G (p.Leu42Arg)
NM_000144.5(FXN):c.128G>C (p.Arg43Pro) rs752207437
NM_000144.5(FXN):c.171G>C (p.Ser57=) rs767221228
NM_000144.5(FXN):c.185T>C (p.Leu62Pro)
NM_000144.5(FXN):c.221A>G (p.Tyr74Cys) rs750274023
NM_000144.5(FXN):c.227T>G (p.Met76Arg)
NM_000144.5(FXN):c.290G>A (p.Arg97Lys) rs1378785673
NM_000144.5(FXN):c.323_324delinsTT (p.Glu108Val) rs1587821826
NM_000144.5(FXN):c.427T>C (p.Tyr143His) rs2133127151
NM_000144.5(FXN):c.472T>G (p.Ser158Ala) rs748916855
NM_000144.5(FXN):c.483-7C>T
NM_000144.5(FXN):c.623A>G (p.Lys208Arg)
NM_000144.5(FXN):c.97T>G (p.Leu33Val)
NM_000152.5(GAA):c.*187_*203delinsGGG
NM_000161.3(GCH1):c.260A>C (p.Gln87Pro) rs1595031190
NM_000161.3(GCH1):c.295G>T (p.Ala99Ser) rs1566687219
NM_000161.3(GCH1):c.669C>A (p.Ser223Arg) rs1594968409
NM_000162.5(GCK):c.1064T>C (p.Leu355Pro) rs1583592156
NM_000162.5(GCK):c.1087G>A (p.Asp363Asn) rs1064793134
NM_000162.5(GCK):c.1108G>C (p.Ala370Pro)
NM_000162.5(GCK):c.1123T>C (p.Ser375Pro) rs1454408814
NM_000162.5(GCK):c.1129C>T (p.Arg377Cys) rs1471992838
NM_000162.5(GCK):c.1136C>G (p.Ala379Gly) rs193922265
NM_000162.5(GCK):c.1145G>A (p.Cys382Tyr) rs2096271616
NM_000162.5(GCK):c.1147T>C (p.Ser383Pro) rs749298368
NM_000162.5(GCK):c.1150G>C (p.Ala384Pro) rs1376620210
NM_000162.5(GCK):c.1151C>T (p.Ala384Val) rs1583591747
NM_000162.5(GCK):c.1156C>G (p.Leu386Val) rs1583591700
NM_000162.5(GCK):c.115_117del (p.Lys39del) rs2096283216
NM_000162.5(GCK):c.1163G>A (p.Gly388Asp) rs2096271482
NM_000162.5(GCK):c.1190G>A (p.Arg397His) rs193929375
NM_000162.5(GCK):c.1207C>G (p.Arg403Gly) rs193922271
NM_000162.5(GCK):c.1217_1219dup (p.Val406dup) rs2128819145
NM_000162.5(GCK):c.121A>G (p.Met41Val) rs1583604693
NM_000162.5(GCK):c.1220G>A (p.Gly407Asp)
NM_000162.5(GCK):c.1229G>A (p.Gly410Asp) rs1554334546
NM_000162.5(GCK):c.122T>C (p.Met41Thr) rs1057524906
NM_000162.5(GCK):c.1242G>T (p.Lys414Asn)
NM_000162.5(GCK):c.1247A>C (p.His416Pro) rs1583591303
NM_000162.5(GCK):c.1253+3G>T rs911506580
NM_000162.5(GCK):c.1265G>C (p.Arg422Pro) rs1010302320
NM_000162.5(GCK):c.1280T>G (p.Val427Gly) rs1562712097
NM_000162.5(GCK):c.1310C>T (p.Thr437Ile) rs1185622190
NM_000162.5(GCK):c.1322C>T (p.Ser441Leu) rs1286804191
NM_000162.5(GCK):c.1340G>C (p.Arg447Pro) rs1131691416
NM_000162.5(GCK):c.1350_1361del (p.Leu451_Ala454del) rs1583590383
NM_000162.5(GCK):c.167A>C (p.Lys56Thr)
NM_000162.5(GCK):c.170T>A (p.Met57Lys)
NM_000162.5(GCK):c.207A>G (p.Ser69=) rs779548342
NM_000162.5(GCK):c.227C>A (p.Ser76Tyr)
NM_000162.5(GCK):c.230T>C (p.Leu77Pro) rs2096281827
NM_000162.5(GCK):c.234C>A (p.Asp78Glu)
NM_000162.5(GCK):c.28G>A (p.Ala10Thr)
NM_000162.5(GCK):c.332C>T (p.Pro111Leu)
NM_000162.5(GCK):c.343A>G (p.Met115Val)
NM_000162.5(GCK):c.364C>G (p.Leu122Val) rs1554335616
NM_000162.5(GCK):c.370G>C (p.Asp124His) rs759072800
NM_000162.5(GCK):c.377T>C (p.Ile126Thr) rs1562718220
NM_000162.5(GCK):c.386G>T (p.Cys129Phe)
NM_000162.5(GCK):c.454T>C (p.Phe152Leu) rs2096280050
NM_000162.5(GCK):c.457C>T (p.Pro153Ser) rs193922300
NM_000162.5(GCK):c.466C>T (p.His156Tyr) rs1562718043
NM_000162.5(GCK):c.527C>A (p.Ala176Glu) rs193922304
NM_000162.5(GCK):c.542T>C (p.Val181Ala) rs193922306
NM_000162.5(GCK):c.554T>G (p.Leu185Arg) rs1583599749
NM_000162.5(GCK):c.557G>A (p.Arg186Gln)
NM_000162.5(GCK):c.571C>G (p.Arg191Gly) rs1085307455
NM_000162.5(GCK):c.579+8G>A rs1562717232
NM_000162.5(GCK):c.595G>A (p.Val199Met) rs1554335417
NM_000162.5(GCK):c.601G>T (p.Ala201Ser) rs794727775
NM_000162.5(GCK):c.615C>A (p.Asp205Glu)
NM_000162.5(GCK):c.623C>T (p.Ala208Val) rs746913146
NM_000162.5(GCK):c.629T>C (p.Met210Thr) rs80356654
NM_000162.5(GCK):c.638_640del (p.Cys213del) rs1583599241
NM_000162.5(GCK):c.666C>A (p.Val222=)
NM_000162.5(GCK):c.679+3A>C
NM_000162.5(GCK):c.680-15C>A rs369345791
NM_000162.5(GCK):c.680-19C>T
NM_000162.5(GCK):c.688T>C (p.Cys230Arg) rs794727839
NM_000162.5(GCK):c.701A>G (p.Tyr234Cys) rs1562715620
NM_000162.5(GCK):c.707A>T (p.Glu236Val)
NM_000162.5(GCK):c.710A>T (p.Glu237Val)
NM_000162.5(GCK):c.730G>A (p.Val244Met) rs1240035630
NM_000162.5(GCK):c.734A>G (p.Glu245Gly) rs1583596546
NM_000162.5(GCK):c.736G>A (p.Gly246Arg) rs2096275721
NM_000162.5(GCK):c.737G>C (p.Gly246Ala) rs1583596522
NM_000162.5(GCK):c.741C>G (p.Asp247Glu)
NM_000162.5(GCK):c.758T>C (p.Val253Ala) rs193921400
NM_000162.5(GCK):c.758T>G (p.Val253Gly) rs193921400
NM_000162.5(GCK):c.770G>C (p.Trp257Ser) rs1562715426
NM_000162.5(GCK):c.772G>T (p.Gly258Cys) rs1583596378
NM_000162.5(GCK):c.802G>A (p.Glu268Lys) rs1554335111
NM_000162.5(GCK):c.809T>C (p.Leu270Pro) rs1583596227
NM_000162.5(GCK):c.822C>A (p.Asp274Glu) rs756251613
NM_000162.5(GCK):c.833A>T (p.Asp278Val) rs193922333
NM_000162.5(GCK):c.85G>T (p.Asp29Tyr)
NM_000162.5(GCK):c.863+3A>G rs193922334
NM_000162.5(GCK):c.868G>A (p.Glu290Lys) rs1487194256
NM_000162.5(GCK):c.904G>C (p.Val302Leu) rs1583594501
NM_000162.5(GCK):c.914T>G (p.Val305Gly) rs2096273846
NM_000162.5(GCK):c.917T>C (p.Leu306Pro) rs193922337
NM_000162.5(GCK):c.943C>T (p.Leu315Phe) rs1583594350
NM_000162.5(GCK):c.946T>G (p.Phe316Val)
NM_000162.5(GCK):c.971T>G (p.Leu324Arg) rs193922341
NM_000162.5(GCK):c.990C>T (p.Phe330=) rs773582328
NM_000162.5(GCK):c.995C>G (p.Thr332Arg) rs770231054
NM_000166.6(GJB1):c.-17+10C>A rs2092541241
NM_000166.6(GJB1):c.-45G>T
NM_000166.6(GJB1):c.109G>T (p.Val37Leu) rs1057518946
NM_000166.6(GJB1):c.118G>A (p.Ala40Thr) rs1602348782
NM_000166.6(GJB1):c.147T>C (p.Ser49=) rs2092542885
NM_000166.6(GJB1):c.149C>G (p.Ser50Cys) rs2092542910
NM_000166.6(GJB1):c.176G>A (p.Gly59Asp)
NM_000166.6(GJB1):c.192C>G (p.Cys64Trp) rs2147945443
NM_000166.6(GJB1):c.268C>A (p.Leu90Ile) rs1299325261
NM_000166.6(GJB1):c.26T>C (p.Leu9Ser) rs1569214971
NM_000166.6(GJB1):c.299A>T (p.His100Leu) rs1602349133
NM_000166.6(GJB1):c.386G>A (p.Gly129Glu) rs1602349280
NM_000166.6(GJB1):c.389C>T (p.Thr130Ile) rs1602349283
NM_000166.6(GJB1):c.563CCGTCTTCA[1] (p.188TVF[1]) rs116840823
NM_000166.6(GJB1):c.592T>C (p.Ser198Pro) rs1555937259
NM_000166.6(GJB1):c.617T>G (p.Val206Gly) rs1569215431
NM_000166.6(GJB1):c.713G>T (p.Arg238Leu) rs776206757
NM_000166.6(GJB1):c.7T>C (p.Trp3Arg) rs1602348537
NM_000169.3(GLA):c.1103C>T (p.Ala368Val)
NM_000170.3(GLDC):c.1791G>T (p.Glu597Asp) rs141875337
NM_000170.3(GLDC):c.2876A>G (p.His959Arg) rs572523552
NM_000209.4(PDX1):c.102G>A (p.Ala34=)
NM_000209.4(PDX1):c.279C>T (p.Pro93=)
NM_000209.4(PDX1):c.455C>T (p.Ala152Val) rs1355562073
NM_000209.4(PDX1):c.474G>T (p.Leu158=) rs1957808858
NM_000214.3(JAG1):c.830A>G (p.Asn277Ser)
NM_000216.4(ANOS1):c.515G>C (p.Cys172Ser) rs1930749813
NM_000217.3(KCNA1):c.1371C>T (p.Ile457=)
NM_000217.3(KCNA1):c.357T>C (p.Phe119=)
NM_000217.3(KCNA1):c.837C>A (p.Asn279Lys) rs1591627786
NM_000217.3(KCNA1):c.884G>A (p.Arg295His) rs778463081
NM_000218.3(KCNQ1):c.1252-9T>G
NM_000231.3(SGCG):c.*2C>T
NM_000231.3(SGCG):c.637G>T (p.Ala213Ser) rs1883004416
NM_000232.5(SGCB):c.12GGC[5] (p.Ala9dup) rs768838951
NM_000232.5(SGCB):c.374G>A (p.Ser125Asn) rs1560567674
NM_000232.5(SGCB):c.430-5dup rs762831481
NM_000232.5(SGCB):c.809G>A (p.Ser270Asn)
NM_000232.5(SGCB):c.9_14dup (p.Ala8_Ala9dup) rs886044103
NM_000233.4(LHCGR):c.1715C>T (p.Ala572Val) rs121912522
NM_000238.4(KCNH2):c.302A>G (p.Lys101Arg) rs2117062159
NM_000238.4(KCNH2):c.3185C>T (p.Thr1062Ile) rs761811244
NM_000238.4(KCNH2):c.670G>A (p.Gly224Arg) rs794728358
NM_000238.4(KCNH2):c.872T>G (p.Met291Arg) rs199472881
NM_000256.3(MYBPC3):c.1625-8C>A
NM_000256.3(MYBPC3):c.4C>A (p.Pro2Thr) rs1565632363
NM_000257.4(MYH7):c.5020G>T (p.Val1674Leu) rs397516235
NM_000260.4(MYO7A):c.2759G>T (p.Arg920Leu) rs565162134
NM_000260.4(MYO7A):c.3503+10_3503+32delinsA rs1955533165
NM_000268.4(NF2):c.904G>A (p.Gly302Arg) rs1255367068
NM_000271.5(NPC1):c.2864C>T (p.Ser955Phe)
NM_000287.4(PEX6):c.1992G>T (p.Glu664Asp)
NM_000297.4(PKD2):c.1298T>C (p.Ile433Thr) rs1192846098
NM_000297.4(PKD2):c.1326G>T (p.Leu442Phe)
NM_000297.4(PKD2):c.1346G>T (p.Gly449Val) rs1131408
NM_000297.4(PKD2):c.1556T>A (p.Val519Glu)
NM_000297.4(PKD2):c.1641C>A (p.Asn547Lys)
NM_000297.4(PKD2):c.1912C>T (p.Arg638Cys)
NM_000297.4(PKD2):c.2019G>T (p.Leu673Phe)
NM_000297.4(PKD2):c.2051_2053del (p.Tyr684del) rs1578144872
NM_000297.4(PKD2):c.2207T>C (p.Leu736Ser) rs868519938
NM_000297.4(PKD2):c.2651T>C (p.Leu884Pro)
NM_000297.4(PKD2):c.289G>C (p.Glu97Gln) rs1578111365
NM_000304.4(PMP22):c.31_39del (p.Leu11_Val13del) rs1567719323
NM_000304.4(PMP22):c.362A>G (p.His121Arg) rs1567698985
NM_000304.4(PMP22):c.398G>A (p.Gly133Asp) rs1411246019
NM_000304.4(PMP22):c.406T>A (p.Tyr136Asn) rs1906274147
NM_000304.4(PMP22):c.79-16A>C rs373417110
NM_000334.4(SCN4A):c.1585G>A (p.Gly529Ser) rs143457794
NM_000334.4(SCN4A):c.2096C>A (p.Ala699Glu) rs1395381249
NM_000334.4(SCN4A):c.2101G>C (p.Gly701Arg) rs1909105377
NM_000334.4(SCN4A):c.2150T>C (p.Val717Ala) rs1567823095
NM_000334.4(SCN4A):c.235C>A (p.Pro79Thr) rs376505442
NM_000334.4(SCN4A):c.2514C>T (p.Ala838=) rs2144787155
NM_000334.4(SCN4A):c.2578G>A (p.Glu860Lys) rs1346024466
NM_000334.4(SCN4A):c.2585_2602del (p.Asp862_Ala867del) rs776181227
NM_000334.4(SCN4A):c.296G>T (p.Gly99Val) rs2143026945
NM_000334.4(SCN4A):c.301G>A (p.Ala101Thr)
NM_000334.4(SCN4A):c.3262G>A (p.Gly1088Ser) rs1282585219
NM_000334.4(SCN4A):c.3286G>C (p.Ala1096Pro) rs766002690
NM_000334.4(SCN4A):c.3336G>C (p.Leu1112Phe) rs764409572
NM_000334.4(SCN4A):c.3430G>A (p.Glu1144Lys) rs751443439
NM_000334.4(SCN4A):c.3466G>T (p.Ala1156Ser) rs80338958
NM_000334.4(SCN4A):c.349T>C (p.Phe117Leu) rs1567829697
NM_000334.4(SCN4A):c.3558C>A (p.Phe1186Leu) rs147610324
NM_000334.4(SCN4A):c.3696G>A (p.Leu1232=) rs2144779293
NM_000334.4(SCN4A):c.4031G>C (p.Gly1344Ala) rs371949054
NM_000334.4(SCN4A):c.4080G>T (p.Met1360Ile) rs774789710
NM_000334.4(SCN4A):c.4088T>A (p.Ile1363Asn) rs1567817027
NM_000334.4(SCN4A):c.4297C>T (p.Leu1433Phe)
NM_000334.4(SCN4A):c.4343G>T (p.Arg1448Leu) rs121908545
NM_000334.4(SCN4A):c.4352G>A (p.Arg1451His) rs748517635
NM_000334.4(SCN4A):c.4481T>A (p.Phe1494Tyr)
NM_000334.4(SCN4A):c.4591G>A (p.Glu1531Lys) rs1555600732
NM_000334.4(SCN4A):c.4759C>T (p.Leu1587Phe) rs1567816227
NM_000334.4(SCN4A):c.4778A>T (p.Tyr1593Phe) rs1908530350
NM_000334.4(SCN4A):c.4825A>C (p.Ser1609Arg) rs1555600678
NM_000334.4(SCN4A):c.5051C>T (p.Thr1684Ile) rs541964442
NM_000334.4(SCN4A):c.5104G>A (p.Glu1702Lys) rs1555600605
NM_000334.4(SCN4A):c.5104GAG[1] (p.Glu1703del) rs1464481652
NM_000334.4(SCN4A):c.5105A>G (p.Glu1702Gly) rs1555600604
NM_000334.4(SCN4A):c.5162C>T (p.Thr1721Ile) rs1172419975
NM_000334.4(SCN4A):c.5172G>A (p.Arg1724=)
NM_000334.4(SCN4A):c.5229A>G (p.Leu1743=) rs1908508905
NM_000334.4(SCN4A):c.55C>T (p.Pro19Ser) rs772628295
NM_000334.4(SCN4A):c.781C>A (p.Leu261Met) rs1597985492
NM_000334.4(SCN4A):c.794C>A (p.Ala265Glu) rs749502925
NM_000334.4(SCN4A):c.888C>T (p.Ser296=)
NM_000335.5(SCN5A):c.1355G>T (p.Gly452Val) rs794728855
NM_000335.5(SCN5A):c.3208GAG[2] (p.Glu1072del) rs758282196
NM_000335.5(SCN5A):c.3388-10_3388-9del rs2061494723
NM_000335.5(SCN5A):c.393-5C>T rs368678204
NM_000335.5(SCN5A):c.396C>T (p.Leu132=)
NM_000336.3(SCNN1B):c.1163G>A (p.Arg388His)
NM_000338.3(SLC12A1):c.206G>A (p.Cys69Tyr) rs143141941
NM_000338.3(SLC12A1):c.2338G>C (p.Gly780Arg) rs1566849200
NM_000338.3(SLC12A1):c.2435T>G (p.Ile812Arg) rs201516084
NM_000338.3(SLC12A1):c.2770C>T (p.Leu924Phe) rs1597456429
NM_000344.4(SMN1):c.223G>A (p.Ala75Thr)
NM_000344.4(SMN1):c.242A>T (p.Gln81Leu) rs1580886807
NM_000344.4(SMN1):c.490C>A (p.Gln164Lys) rs1561499713
NM_000344.4(SMN1):c.618A>G (p.Gly206=)
NM_000344.4(SMN1):c.708T>G (p.Phe236Leu)
NM_000344.4(SMN1):c.855_858del (p.Arg288fs) rs1475940018
NM_000344.4(SMN1):c.873T>A (p.His291Gln) rs1561503207
NM_000352.6(ABCC8):c.1106A>G (p.Gln369Arg) rs756808492
NM_000352.6(ABCC8):c.1178C>T (p.Thr393Ile) rs377104807
NM_000352.6(ABCC8):c.1220T>A (p.Leu407Gln) rs1564955834
NM_000352.6(ABCC8):c.1818-7del rs1955709311
NM_000352.6(ABCC8):c.4090G>A (p.Val1364Ile) rs138642224
NM_000352.6(ABCC8):c.4268T>G (p.Ile1423Ser) rs1564874456
NM_000352.6(ABCC8):c.4274T>C (p.Leu1425Pro) rs1953879871
NM_000352.6(ABCC8):c.640G>A (p.Gly214Arg) rs1274656446
NM_000352.6(ABCC8):c.823C>T (p.Arg275Trp)
NM_000365.6(TPI1):c.49G>A (p.Gly17Arg)
NM_000370.3(TTPA):c.101G>A (p.Arg34Gln)
NM_000370.3(TTPA):c.143C>T (p.Thr48Ile) rs2129795826
NM_000370.3(TTPA):c.682A>G (p.Asn228Asp)
NM_000371.4(TTR):c.184G>A (p.Glu62Lys)
NM_000371.4(TTR):c.326A>T (p.Glu109Val) rs2073511444
NM_000383.4(AIRE):c.925A>G (p.Ile309Val) rs936714310
NM_000388.4(CASR):c.101T>C (p.Leu34Pro) rs1559955362
NM_000388.4(CASR):c.1309T>C (p.Cys437Arg) rs1559959958
NM_000388.4(CASR):c.1340G>T (p.Gly447Val)
NM_000388.4(CASR):c.1466A>G (p.Tyr489Cys) rs1553768108
NM_000388.4(CASR):c.1608+5G>A rs2107643797
NM_000388.4(CASR):c.1608+5del rs2074816023
NM_000388.4(CASR):c.1658G>T (p.Gly553Val) rs1576875807
NM_000388.4(CASR):c.1687T>C (p.Phe563Leu) rs2074898883
NM_000388.4(CASR):c.1693T>G (p.Cys565Gly) rs1559967708
NM_000388.4(CASR):c.1732+10C>T rs201859314
NM_000388.4(CASR):c.179G>T (p.Cys60Phe) rs772906030
NM_000388.4(CASR):c.1901T>C (p.Phe634Ser) rs2107649591
NM_000388.4(CASR):c.1919C>T (p.Thr640Ile) rs1559968450
NM_000388.4(CASR):c.197G>T (p.Arg66Leu) rs1276839362
NM_000388.4(CASR):c.2023T>C (p.Trp675Arg) rs2107649805
NM_000388.4(CASR):c.2054G>A (p.Gly685Asp)
NM_000388.4(CASR):c.2061C>A (p.Ser687Arg) rs2074930161
NM_000388.4(CASR):c.2071T>G (p.Cys691Gly)
NM_000388.4(CASR):c.2111T>C (p.Leu704Pro) rs1559968657
NM_000388.4(CASR):c.2129T>C (p.Ile710Thr) rs2107649977
NM_000388.4(CASR):c.2240C>G (p.Pro747Arg)
NM_000388.4(CASR):c.2243C>T (p.Pro748Leu) rs193922433
NM_000388.4(CASR):c.2306C>G (p.Ser769Cys)
NM_000388.4(CASR):c.2392C>T (p.Pro798Ser) rs1576877924
NM_000388.4(CASR):c.2397G>C (p.Glu799Asp) rs752953216
NM_000388.4(CASR):c.2557T>G (p.Phe853Val) rs1576878133
NM_000388.4(CASR):c.2656C>G (p.Arg886Gly)
NM_000388.4(CASR):c.3040C>T (p.Leu1014Phe) rs202219108
NM_000388.4(CASR):c.329C>A (p.Ala110Asp) rs1559956624
NM_000388.4(CASR):c.449C>T (p.Ser150Phe) rs1559956735
NM_000388.4(CASR):c.467T>C (p.Leu156Pro) rs2107627878
NM_000388.4(CASR):c.470T>C (p.Leu157Pro) rs1553766286
NM_000388.4(CASR):c.488C>G (p.Pro163Arg)
NM_000388.4(CASR):c.527A>G (p.Asn176Ser) rs1060502849
NM_000388.4(CASR):c.533A>G (p.Asn178Ser)
NM_000388.4(CASR):c.554G>C (p.Arg185Pro) rs104893689
NM_000388.4(CASR):c.893C>T (p.Ala298Val) rs1064797049
NM_000393.5(COL5A2):c.4417C>T (p.Pro1473Ser)
NM_000399.5(EGR2):c.1192T>C (p.Phe398Leu)
NM_000399.5(EGR2):c.206G>A (p.Arg69Lys) rs776869045
NM_000399.5(EGR2):c.307C>T (p.Pro103Ser)
NM_000399.5(EGR2):c.469A>T (p.Thr157Ser)
NM_000414.4(HSD17B4):c.694G>A (p.Glu232Lys)
NM_000426.4(LAMA2):c.1623T>A (p.Ser541Arg)
NM_000426.4(LAMA2):c.2239G>T (p.Gly747Cys)
NM_000426.4(LAMA2):c.3317G>A (p.Cys1106Tyr) rs371548755
NM_000426.4(LAMA2):c.4321C>A (p.His1441Asn) rs1562477412
NM_000426.4(LAMA2):c.4909G>C (p.Glu1637Gln) rs138303386
NM_000426.4(LAMA2):c.6158C>T (p.Ala2053Val) rs1562566133
NM_000426.4(LAMA2):c.6332A>T (p.Asp2111Val)
NM_000426.4(LAMA2):c.6764T>C (p.Ile2255Thr) rs951339046
NM_000426.4(LAMA2):c.8857G>A (p.Val2953Ile) rs1211031170
NM_000435.3(NOTCH3):c.1027G>C (p.Gly343Arg) rs1599393810
NM_000435.3(NOTCH3):c.1044G>A (p.Leu348=)
NM_000435.3(NOTCH3):c.1051C>A (p.Leu351Met) rs1599392148
NM_000435.3(NOTCH3):c.1193-10C>T
NM_000435.3(NOTCH3):c.1262G>A (p.Arg421His) rs2145436323
NM_000435.3(NOTCH3):c.1313G>T (p.Gly438Val)
NM_000435.3(NOTCH3):c.1322G>A (p.Arg441Gln)
NM_000435.3(NOTCH3):c.1368_1369del (p.Ile456fs) rs2145435979
NM_000435.3(NOTCH3):c.1375G>C (p.Ala459Pro) rs370186772
NM_000435.3(NOTCH3):c.139A>G (p.Ser47Gly) rs775259883
NM_000435.3(NOTCH3):c.1414G>A (p.Glu472Lys)
NM_000435.3(NOTCH3):c.1449C>T (p.Val483=)
NM_000435.3(NOTCH3):c.1492+2T>C
NM_000435.3(NOTCH3):c.1576C>T (p.Pro526Ser)
NM_000435.3(NOTCH3):c.161G>A (p.Arg54His) rs754104109
NM_000435.3(NOTCH3):c.1621C>A (p.Leu541Met) rs1410670785
NM_000435.3(NOTCH3):c.1635C>G (p.Asn545Lys)
NM_000435.3(NOTCH3):c.1749G>A (p.Val583=)
NM_000435.3(NOTCH3):c.1840+3G>A rs2046888185
NM_000435.3(NOTCH3):c.1957C>A (p.Leu653Ile) rs1336688514
NM_000435.3(NOTCH3):c.1966G>C (p.Val656Leu) rs560752299
NM_000435.3(NOTCH3):c.197+8C>T
NM_000435.3(NOTCH3):c.2011T>A (p.Ser671Thr)
NM_000435.3(NOTCH3):c.2071C>A (p.Leu691Ile)
NM_000435.3(NOTCH3):c.218G>T (p.Gly73Val)
NM_000435.3(NOTCH3):c.231G>C (p.Gln77His) rs1438944422
NM_000435.3(NOTCH3):c.2539G>A (p.Asp847Asn)
NM_000435.3(NOTCH3):c.2660A>C (p.Asp887Ala)
NM_000435.3(NOTCH3):c.2717C>T (p.Ala906Val) rs754997329
NM_000435.3(NOTCH3):c.2741_2742delinsAG (p.Pro914Gln) rs2145423971
NM_000435.3(NOTCH3):c.2749G>A (p.Gly917Arg) rs150338460
NM_000435.3(NOTCH3):c.2793-8C>A rs960266832
NM_000435.3(NOTCH3):c.2827G>T (p.Val943Leu) rs764894150
NM_000435.3(NOTCH3):c.2879A>T (p.Gln960Leu)
NM_000435.3(NOTCH3):c.2905C>T (p.Arg969Trp)
NM_000435.3(NOTCH3):c.2996C>T (p.Thr999Met)
NM_000435.3(NOTCH3):c.3130G>T (p.Ala1044Ser) rs767672719
NM_000435.3(NOTCH3):c.3193G>A (p.Asp1065Asn) rs920169956
NM_000435.3(NOTCH3):c.320G>A (p.Arg107Gln)
NM_000435.3(NOTCH3):c.3472G>A (p.Glu1158Lys)
NM_000435.3(NOTCH3):c.363T>A (p.Asp121Glu) rs2046935214
NM_000435.3(NOTCH3):c.3757_3758delinsAG (p.Gln1253Arg) rs2046814637
NM_000435.3(NOTCH3):c.3829_3835del (p.Cys1277fs)
NM_000435.3(NOTCH3):c.3837+10G>T rs1555727565
NM_000435.3(NOTCH3):c.3865del (p.Val1289fs) rs2046807565
NM_000435.3(NOTCH3):c.391G>A (p.Gly131Ser) rs767150916
NM_000435.3(NOTCH3):c.4004_4006dup (p.Ser1335dup) rs1555727412
NM_000435.3(NOTCH3):c.4029del (p.Cys1344fs)
NM_000435.3(NOTCH3):c.4203C>T (p.Cys1401=)
NM_000435.3(NOTCH3):c.4267G>A (p.Asp1423Asn) rs2145414624
NM_000435.3(NOTCH3):c.427C>T (p.Leu143Phe) rs772201554
NM_000435.3(NOTCH3):c.4404-6C>G rs1157189739
NM_000435.3(NOTCH3):c.4417_4428dup (p.Lys1473_Ala1476dup) rs1599374922
NM_000435.3(NOTCH3):c.4418_4422del (p.Lys1473fs) rs2046769538
NM_000435.3(NOTCH3):c.4521G>A (p.Leu1507=)
NM_000435.3(NOTCH3):c.4528C>T (p.Arg1510Cys) rs763870059
NM_000435.3(NOTCH3):c.4627C>A (p.Leu1543Met) rs111838442
NM_000435.3(NOTCH3):c.4637G>A (p.Arg1546His)
NM_000435.3(NOTCH3):c.4737-7C>G
NM_000435.3(NOTCH3):c.4944_4945dup (p.Ala1649fs) rs2046723155
NM_000435.3(NOTCH3):c.5000G>A (p.Arg1667His)
NM_000435.3(NOTCH3):c.5014A>T (p.Ser1672Cys)
NM_000435.3(NOTCH3):c.5149G>A (p.Val1717Met)
NM_000435.3(NOTCH3):c.5180C>G (p.Pro1727Arg) rs989373826
NM_000435.3(NOTCH3):c.5203G>C (p.Glu1735Gln)
NM_000435.3(NOTCH3):c.5285T>C (p.Val1762Ala) rs750747488
NM_000435.3(NOTCH3):c.530C>T (p.Thr177Ile) rs919800459
NM_000435.3(NOTCH3):c.5738C>T (p.Ala1913Val)
NM_000435.3(NOTCH3):c.5798A>G (p.Asn1933Ser)
NM_000435.3(NOTCH3):c.583G>A (p.Glu195Lys) rs1599394696
NM_000435.3(NOTCH3):c.5901G>A (p.Met1967Ile) rs373866355
NM_000435.3(NOTCH3):c.5990A>G (p.Asn1997Ser)
NM_000435.3(NOTCH3):c.6016A>T (p.Arg2006Trp) rs375674115
NM_000435.3(NOTCH3):c.6035C>G (p.Ala2012Gly)
NM_000435.3(NOTCH3):c.6097C>A (p.Pro2033Thr) rs375213868
NM_000435.3(NOTCH3):c.6102dup (p.Gly2035fs)
NM_000435.3(NOTCH3):c.6129C>T (p.Leu2043=) rs943996920
NM_000435.3(NOTCH3):c.6241G>A (p.Gly2081Ser)
NM_000435.3(NOTCH3):c.6276G>A (p.Leu2092=)
NM_000435.3(NOTCH3):c.6378C>T (p.Pro2126=)
NM_000435.3(NOTCH3):c.6446G>A (p.Gly2149Glu)
NM_000435.3(NOTCH3):c.6463G>C (p.Gly2155Arg)
NM_000435.3(NOTCH3):c.6505C>T (p.Pro2169Ser)
NM_000435.3(NOTCH3):c.6538C>A (p.Pro2180Thr)
NM_000435.3(NOTCH3):c.6681C>G (p.His2227Gln) rs1366113655
NM_000435.3(NOTCH3):c.6694A>G (p.Lys2232Glu)
NM_000435.3(NOTCH3):c.6726C>T (p.His2242=)
NM_000435.3(NOTCH3):c.6850A>T (p.Thr2284Ser) rs1177268940
NM_000435.3(NOTCH3):c.724G>C (p.Gly242Arg)
NM_000435.3(NOTCH3):c.740A>G (p.Asn247Ser)
NM_000435.3(NOTCH3):c.770C>T (p.Thr257Ile)
NM_000435.3(NOTCH3):c.976G>A (p.Gly326Arg)
NM_000441.2(SLC26A4):c.475G>A (p.Glu159Lys) rs1562823659
NM_000441.2(SLC26A4):c.859G>C (p.Glu287Gln) rs1584317605
NM_000444.6(PHEX):c.1091_1099dup (p.Leu366_Val367insAspTyrLeu) rs1930962739
NM_000444.6(PHEX):c.1768+5G>A rs1057524608
NM_000444.6(PHEX):c.1960T>A (p.Phe654Ile) rs1935508894
NM_000444.6(PHEX):c.437-3C>G rs1602274684
NM_000445.5(PLEC):c.128G>T (p.Gly43Val) rs781980239
NM_000447.3(PSEN2):c.1139C>T (p.Thr380Met) rs143912759
NM_000447.3(PSEN2):c.1197G>T (p.Leu399Phe)
NM_000447.3(PSEN2):c.31del (p.Glu11fs) rs2102667828
NM_000447.3(PSEN2):c.937G>A (p.Gly313Ser) rs756225509
NM_000451.4(SHOX):c.*14C>G
NM_000451.4(SHOX):c.*18del rs1363317245
NM_000451.4(SHOX):c.100A>T (p.Thr34Ser)
NM_000451.4(SHOX):c.261C>T (p.Thr87=) rs368925113
NM_000451.4(SHOX):c.277+20G>C
NM_000451.4(SHOX):c.342G>A (p.Lys114=) rs1215651574
NM_000451.4(SHOX):c.361C>G (p.Arg121Gly) rs2052711755
NM_000451.4(SHOX):c.364A>C (p.Thr122Pro) rs2124165681
NM_000451.4(SHOX):c.374C>T (p.Thr125Met) rs2052712054
NM_000451.4(SHOX):c.37G>A (p.Asp13Asn) rs1469223043
NM_000451.4(SHOX):c.399G>C (p.Glu133Asp) rs1603285352
NM_000451.4(SHOX):c.402A>G (p.Arg134=) rs2052712822
NM_000451.4(SHOX):c.403C>G (p.Leu135Val) rs1603285354
NM_000451.4(SHOX):c.439C>A (p.Arg147Ser) rs2124165990
NM_000451.4(SHOX):c.617G>A (p.Arg206Gln)
NM_000451.4(SHOX):c.66AGGCGG[1] (p.Gly27_Gly28del) rs747349135
NM_000451.4(SHOX):c.721T>C (p.Phe241Leu) rs752020837
NM_000451.4(SHOX):c.74G>A (p.Gly25Asp)
NM_000451.4(SHOX):c.82G>C (p.Gly28Arg) rs1170526645
NM_000451.4(SHOX):c.88A>G (p.Lys30Glu)
NM_000454.5(SOD1):c.268G>A (p.Ala90Thr) rs1568810660
NM_000454.5(SOD1):c.325G>C (p.Gly109Arg) rs1568810758
NM_000454.5(SOD1):c.357+3A>G
NM_000454.5(SOD1):c.374A>C (p.Asp125Ala) rs1568811366
NM_000454.5(SOD1):c.401A>C (p.Glu134Ala)
NM_000454.5(SOD1):c.412A>G (p.Thr138Ala) rs1568811445
NM_000454.5(SOD1):c.422C>G (p.Ala141Gly) rs1555836937
NM_000454.5(SOD1):c.83_88del (p.Gly28_Pro29del) rs2049569360
NM_000458.4(HNF1B):c.-8C>G
NM_000458.4(HNF1B):c.1206+42_1206+46del rs142240844
NM_000458.4(HNF1B):c.127C>G (p.Leu43Val)
NM_000458.4(HNF1B):c.135G>A (p.Thr45=) rs2034121058
NM_000458.4(HNF1B):c.374T>A (p.Ile125Asn) rs2147575564
NM_000458.4(HNF1B):c.473C>A (p.Thr158Asn) rs1568670646
NM_000458.4(HNF1B):c.578T>C (p.Met193Thr) rs760079000
NM_000458.4(HNF1B):c.703C>T (p.Arg235Trp)
NM_000458.4(HNF1B):c.704G>A (p.Arg235Gln)
NM_000458.4(HNF1B):c.738G>T (p.Leu246Phe) rs775562256
NM_000458.4(HNF1B):c.78G>T (p.Leu26=)
NM_000466.3(PEX1):c.1141G>C (p.Ala381Pro)
NM_000466.3(PEX1):c.3050T>C (p.Leu1017Ser)
NM_000466.3(PEX1):c.547C>G (p.Arg183Gly) rs149806989
NM_000478.6(ALPL):c.335_340dup (p.Gly112_Thr113dup) rs931041761
NM_000478.6(ALPL):c.643A>G (p.Ile215Val)
NM_000484.4(APP):c.*6C>T
NM_000484.4(APP):c.1253G>C (p.Arg418Pro) rs200487832
NM_000484.4(APP):c.1457G>A (p.Arg486Gln) rs200268317
NM_000484.4(APP):c.1886T>C (p.Val629Ala) rs1555893907
NM_000484.4(APP):c.2005G>A (p.Val669Met)
NM_000484.4(APP):c.2222_2224del (p.Ala741del) rs759157514
NM_000484.4(APP):c.347G>A (p.Arg116His) rs2061787725
NM_000484.4(APP):c.807C>T (p.Thr269=) rs1568868266
NM_000484.4(APP):c.819CAC[6] (p.Thr280del)
NM_000489.6(ATRX):c.4347_4358del (p.Glu1461_Glu1464del) rs1557117424
NM_000489.6(ATRX):c.6618A>G (p.Glu2206=) rs2064850147
NM_000497.4(CYP11B1):c.1328T>C (p.Phe443Ser) rs1563867943
NM_000497.4(CYP11B1):c.1398+5G>C rs1563867837
NM_000497.4(CYP11B1):c.1460T>C (p.Phe487Ser) rs1563867512
NM_000497.4(CYP11B1):c.240-18_240-17delinsAA rs1586561494
NM_000497.4(CYP11B1):c.357C>T (p.Tyr119=) rs1563870868
NM_000497.4(CYP11B1):c.465G>C (p.Gln155His) rs1026054479
NM_000497.4(CYP11B1):c.899C>G (p.Ser300Trp) rs202091168
NM_000500.9(CYP21A2):c.1132G>A (p.Asp378Asn)
NM_000500.9(CYP21A2):c.1208A>G (p.His403Arg)
NM_000500.9(CYP21A2):c.1343_1360del (p.Gln448_Leu453del) rs1562764272
NM_000500.9(CYP21A2):c.292+10G>A
NM_000500.9(CYP21A2):c.489G>A (p.Glu163=) rs1776090800
NM_000500.9(CYP21A2):c.493T>G (p.Phe165Val)
NM_000500.9(CYP21A2):c.94C>T (p.Pro32Ser)
NM_000525.4(KCNJ11):c.174C>G (p.Asp58Glu) rs1237212288
NM_000525.4(KCNJ11):c.245G>A (p.Ser82Asn) rs1564865688
NM_000525.4(KCNJ11):c.346T>C (p.Ser116Pro) rs1953587696
NM_000525.4(KCNJ11):c.406C>A (p.Arg136Ser) rs766891274
NM_000525.4(KCNJ11):c.541C>T (p.Leu181Phe) rs1564865434
NM_000525.4(KCNJ11):c.989A>T (p.Tyr330Phe) rs193929356
NM_000530.8(MPZ):c.223G>T (p.Asp75Tyr) rs2102259788
NM_000530.8(MPZ):c.293G>T (p.Arg98Leu) rs121913589
NM_000530.8(MPZ):c.317G>C (p.Arg106Pro) rs145039212
NM_000530.8(MPZ):c.349C>A (p.Leu117Ile)
NM_000530.8(MPZ):c.362A>C (p.Asp121Ala) rs1571818953
NM_000530.8(MPZ):c.388A>G (p.Lys130Glu)
NM_000530.8(MPZ):c.585-7_585-5del rs770501358
NM_000530.8(MPZ):c.646-3C>A rs750756212
NM_000530.8(MPZ):c.68-3C>A rs1182729605
NM_000533.5(PLP1):c.251C>T (p.Ala84Val)
NM_000533.5(PLP1):c.254T>A (p.Leu85His) rs2074498206
NM_000540.3(RYR1):c.10619A>G (p.Tyr3540Cys) rs752477271
NM_000540.3(RYR1):c.12599A>G (p.Asn4200Ser) rs199660276
NM_000540.3(RYR1):c.13513G>C (p.Asp4505His) rs150396398
NM_000540.3(RYR1):c.14749T>C (p.Phe4917Leu) rs1599674419
NM_000540.3(RYR1):c.1983G>T (p.Trp661Cys) rs1305971341
NM_000540.3(RYR1):c.2049G>T (p.Val683=) rs1967521130
NM_000540.3(RYR1):c.2087G>T (p.Gly696Val)
NM_000540.3(RYR1):c.3494G>A (p.Gly1165Asp) rs559581937
NM_000540.3(RYR1):c.6707T>G (p.Leu2236Arg) rs1969830618
NM_000540.3(RYR1):c.7936A>G (p.Asn2646Asp) rs746174410
NM_000540.3(RYR1):c.9250G>A (p.Gly3084Ser)
NM_000545.8(HNF1A):c.1108G>T (p.Val370Phe) rs2135845768
NM_000545.8(HNF1A):c.1124G>A (p.Gly375Asp)
NM_000545.8(HNF1A):c.1126C>T (p.Pro376Ser)
NM_000545.8(HNF1A):c.1197G>C (p.Gln399His)
NM_000545.8(HNF1A):c.1424C>T (p.Pro475Leu) rs193922580
NM_000545.8(HNF1A):c.1502-19CT[2] rs753496283
NM_000545.8(HNF1A):c.1576G>T (p.Asp526Tyr)
NM_000545.8(HNF1A):c.1594G>A (p.Ala532Thr) rs1421619915
NM_000545.8(HNF1A):c.17G>T (p.Ser6Ile) rs2135819354
NM_000545.8(HNF1A):c.1854C>G (p.Ile618Met) rs193922591
NM_000545.8(HNF1A):c.26A>G (p.Gln9Arg) rs1876081310
NM_000545.8(HNF1A):c.367C>G (p.Leu123Val) rs1876669134
NM_000545.8(HNF1A):c.401_406dup (p.Asp135_Thr136insIleAsp) rs2135832623
NM_000545.8(HNF1A):c.461T>G (p.Met154Arg)
NM_000545.8(HNF1A):c.494G>T (p.Trp165Leu)
NM_000545.8(HNF1A):c.507G>A (p.Lys169=)
NM_000545.8(HNF1A):c.512G>A (p.Arg171Gln)
NM_000545.8(HNF1A):c.526+5_526+8del rs2135833007
NM_000545.8(HNF1A):c.608G>T (p.Arg203Leu) rs587780357
NM_000545.8(HNF1A):c.716C>A (p.Ala239Glu) rs587778397
NM_000545.8(HNF1A):c.734G>T (p.Gly245Val) rs193922603
NM_000545.8(HNF1A):c.794A>C (p.Tyr265Ser) rs1555212006
NM_000545.8(HNF1A):c.944G>A (p.Ser315Asn) rs1298749678
NM_000548.5(TSC2):c.1385G>A (p.Arg462His) rs45494392
NM_000548.5(TSC2):c.1724_1735del (p.Leu575_Leu578del) rs1596336046
NM_000548.5(TSC2):c.1865G>C (p.Arg622Pro) rs45517206
NM_000548.5(TSC2):c.1883G>C (p.Arg628Pro) rs774895427
NM_000548.5(TSC2):c.2099A>G (p.Glu700Gly)
NM_000548.5(TSC2):c.2122C>A (p.Leu708Met) rs778040604
NM_000548.5(TSC2):c.2152C>A (p.Arg718Ser) rs182538665
NM_000548.5(TSC2):c.2375T>C (p.Leu792Pro) rs137854241
NM_000548.5(TSC2):c.2529_2537del (p.Glu845_Leu847del) rs1567476034
NM_000548.5(TSC2):c.2837+10G>T rs1232454175
NM_000548.5(TSC2):c.3124C>A (p.Pro1042Thr)
NM_000548.5(TSC2):c.3284G>T (p.Ser1095Ile) rs1555510754
NM_000548.5(TSC2):c.4016T>A (p.Val1339Asp)
NM_000548.5(TSC2):c.4087G>A (p.Val1363Ile) rs751203255
NM_000548.5(TSC2):c.4364G>C (p.Gly1455Ala) rs1567524174
NM_000548.5(TSC2):c.4733T>G (p.Leu1578Arg) rs45517367
NM_000551.4(VHL):c.335A>G (p.Tyr112Cys) rs869025633
NM_000601.6(HGF):c.1295C>T (p.Ala432Val) rs1228451958
NM_000702.4(ATP1A2):c.2126T>C (p.Val709Ala) rs1651906904
NM_000702.4(ATP1A2):c.2142C>G (p.Asp714Glu) rs139022921
NM_000702.4(ATP1A2):c.2262C>T (p.Ser754=) rs1651911111
NM_000702.4(ATP1A2):c.2564-7C>T rs1558009070
NM_000702.4(ATP1A2):c.2669G>A (p.Arg890Gln) rs868485498
NM_000702.4(ATP1A2):c.2680G>T (p.Asp894Tyr) rs1553245907
NM_000702.4(ATP1A2):c.2681A>G (p.Asp894Gly) rs1570995422
NM_000702.4(ATP1A2):c.3020G>C (p.Arg1007Pro) rs754878991
NM_000702.4(ATP1A2):c.643T>C (p.Ser215Pro) rs1651545217
NM_000702.4(ATP1A2):c.659C>T (p.Ser220Leu)
NM_000702.4(ATP1A2):c.841C>T (p.Pro281Ser) rs751809252
NM_000726.5(CACNB4):c.1021-14TCT[2]
NM_000726.5(CACNB4):c.1030C>T (p.Arg344Trp)
NM_000726.5(CACNB4):c.138C>T (p.Ile46=)
NM_000726.5(CACNB4):c.1460T>C (p.Leu487Pro) rs775008250
NM_000726.5(CACNB4):c.148-90290T>G
NM_000726.5(CACNB4):c.148-90331T>G rs2099873223
NM_000726.5(CACNB4):c.356C>T (p.Ser119Phe) rs1367982719
NM_000726.5(CACNB4):c.391-1G>A
NM_000726.5(CACNB4):c.468A>C (p.Arg156Ser)
NM_000726.5(CACNB4):c.619-9C>T rs2151408626
NM_000726.5(CACNB4):c.64-244_64-241del rs1579294876
NM_000726.5(CACNB4):c.969A>G (p.Ile323Met)
NM_000742.4(CHRNA2):c.121del (p.Leu41fs) rs796052310
NM_000742.4(CHRNA2):c.1362G>A (p.Leu454=)
NM_000744.7(CHRNA4):c.98G>C (p.Arg33Pro) rs201575409
NM_000748.3(CHRNB2):c.360CAA[1] (p.Asn122del) rs796052329
NM_000751.3(CHRND):c.389A>T (p.Asn130Ile) rs1553574327
NM_000751.3(CHRND):c.739C>T (p.Leu247Phe)
NM_000784.4(CYP27A1):c.139G>A (p.Gly47Arg)
NM_000784.4(CYP27A1):c.491G>C (p.Arg164Pro) rs148417330
NM_000814.6(GABRB3):c.418A>G (p.Met140Val) rs1555371848
NM_000815.5(GABRD):c.1214G>C (p.Gly405Ala) rs766337060
NM_000815.5(GABRD):c.259A>G (p.Met87Val) rs1399325636
NM_000815.5(GABRD):c.475A>T (p.Thr159Ser) rs1557446811
NM_001001331.4(ATP2B2):c.2107G>T (p.Val703Leu) rs2060810402
NM_001001331.4(ATP2B2):c.2174T>A (p.Ile725Asn) rs1574980625
NM_001003800.2(BICD2):c.1428T>G (p.Ala476=)
NM_001003800.2(BICD2):c.2420G>A (p.Arg807Gln) rs1564057942
NM_001005361.3(DNM2):c.1147G>T (p.Asp383Tyr) rs1568305190
NM_001005361.3(DNM2):c.1370A>G (p.Glu457Gly) rs1555711301
NM_001005361.3(DNM2):c.1426C>A (p.Leu476Ile) rs1568309121
NM_001005361.3(DNM2):c.1598T>C (p.Leu533Pro) rs2072578169
NM_001005361.3(DNM2):c.1747A>G (p.Lys583Glu) rs1568318798
NM_001005361.3(DNM2):c.2057A>G (p.Asn686Ser) rs2073102227
NM_001005361.3(DNM2):c.210T>C (p.Ile70=) rs878854149
NM_001005361.3(DNM2):c.2183C>T (p.Ala728Val) rs2073249015
NM_001005361.3(DNM2):c.2246C>A (p.Pro749His) rs765111629
NM_001005361.3(DNM2):c.2248C>A (p.Pro750Thr) rs1173091380
NM_001005361.3(DNM2):c.2292-7C>T rs2073285852
NM_001005361.3(DNM2):c.2399C>T (p.Ala800Val)
NM_001005361.3(DNM2):c.2465G>A (p.Ser822Asn) rs1301279979
NM_001005361.3(DNM2):c.646G>T (p.Ala216Ser) rs2071182880
NM_001005361.3(DNM2):c.778C>G (p.Leu260Val) rs145607989
NM_001008212.2(OPTN):c.1388T>C (p.Ile463Thr)
NM_001009944.3(PKD1):c.1015_1073delinsGT (p.Leu339_Ala358delinsVal)
NM_001009944.3(PKD1):c.10574G>T (p.Gly3525Val) rs114523369
NM_001009944.3(PKD1):c.10960C>G (p.Leu3654Val)
NM_001009944.3(PKD1):c.11258G>C (p.Arg3753Pro) rs1555446330
NM_001009944.3(PKD1):c.11340_11345del (p.Tyr3781_Asp3782del) rs2091618795
NM_001009944.3(PKD1):c.11355G>T (p.Trp3785Cys) rs2091617906
NM_001009944.3(PKD1):c.11412-3C>G rs1567153315
NM_001009944.3(PKD1):c.11496C>G (p.Asp3832Glu)
NM_001009944.3(PKD1):c.11762C>G (p.Thr3921Ser) rs762372063
NM_001009944.3(PKD1):c.1202-3C>A
NM_001009944.3(PKD1):c.12095G>T (p.Gly4032Val) rs142768096
NM_001009944.3(PKD1):c.12391_12393del (p.Glu4131del) rs1555444468
NM_001009944.3(PKD1):c.12492C>T (p.Arg4164=) rs536381522
NM_001009944.3(PKD1):c.1256_1258del (p.Cys419del)
NM_001009944.3(PKD1):c.1265TGG[2] (p.Val424del) rs1596588396
NM_001009944.3(PKD1):c.12709T>C (p.Tyr4237His) rs2091392697
NM_001009944.3(PKD1):c.12888C>G (p.Asn4296Lys) rs777990224
NM_001009944.3(PKD1):c.1591G>A (p.Glu531Lys) rs1567215326
NM_001009944.3(PKD1):c.1617G>C (p.Gln539His) rs1382845038
NM_001009944.3(PKD1):c.1744C>T (p.Arg582Cys)
NM_001009944.3(PKD1):c.1758A>C (p.Glu586Asp)
NM_001009944.3(PKD1):c.1823A>G (p.Gln608Arg) rs1596582588
NM_001009944.3(PKD1):c.1831C>T (p.Arg611Trp) rs1555458413
NM_001009944.3(PKD1):c.1894A>G (p.Asn632Asp) rs763213387
NM_001009944.3(PKD1):c.2032G>A (p.Ala678Thr)
NM_001009944.3(PKD1):c.2109C>A (p.His703Gln) rs527655141
NM_001009944.3(PKD1):c.2110G>A (p.Gly704Ser)
NM_001009944.3(PKD1):c.2180T>A (p.Leu727Gln) rs1616940
NM_001009944.3(PKD1):c.2180T>G (p.Leu727Arg) rs1616940
NM_001009944.3(PKD1):c.287+4A>C
NM_001009944.3(PKD1):c.2879G>A (p.Gly960Asp) rs1567208088
NM_001009944.3(PKD1):c.2911G>A (p.Asp971Asn)
NM_001009944.3(PKD1):c.3022_3039del (p.Asn1008_Val1013del) rs1567207029
NM_001009944.3(PKD1):c.3564C>T (p.His1188=) rs1047922967
NM_001009944.3(PKD1):c.3685G>A (p.Val1229Met)
NM_001009944.3(PKD1):c.3836C>G (p.Pro1279Arg) rs1596561655
NM_001009944.3(PKD1):c.38T>C (p.Leu13Pro) rs2092941758
NM_001009944.3(PKD1):c.405G>T (p.Trp135Cys) rs2092679535
NM_001009944.3(PKD1):c.4072G>C (p.Ala1358Pro) rs1567201469
NM_001009944.3(PKD1):c.4141G>A (p.Gly1381Ser)
NM_001009944.3(PKD1):c.4346ACA[1] (p.Asn1450del) rs2092482302
NM_001009944.3(PKD1):c.4379T>C (p.Val1460Ala)
NM_001009944.3(PKD1):c.4729G>A (p.Asp1577Asn) rs770989260
NM_001009944.3(PKD1):c.5036G>A (p.Ser1679Asn) rs756419129
NM_001009944.3(PKD1):c.5294C>T (p.Pro1765Leu) rs577487876
NM_001009944.3(PKD1):c.5372A>C (p.Asn1791Thr) rs1335408319
NM_001009944.3(PKD1):c.5976_5978del (p.Phe1992_Thr1993delinsLeu) rs2092438025
NM_001009944.3(PKD1):c.6011_6016dup (p.Tyr2004_Ala2005dup) rs2092436949
NM_001009944.3(PKD1):c.6277C>A (p.His2093Asn)
NM_001009944.3(PKD1):c.6287T>C (p.Phe2096Ser) rs1596552090
NM_001009944.3(PKD1):c.6498C>T (p.Arg2166=)
NM_001009944.3(PKD1):c.6599G>A (p.Arg2200His)
NM_001009944.3(PKD1):c.662T>C (p.Leu221Pro) rs1567218310
NM_001009944.3(PKD1):c.6656C>T (p.Pro2219Leu) rs1567191874
NM_001009944.3(PKD1):c.667G>C (p.Ala223Pro)
NM_001009944.3(PKD1):c.6683A>G (p.Tyr2228Cys) rs1596550613
NM_001009944.3(PKD1):c.6827T>C (p.Leu2276Pro) rs1567191044
NM_001009944.3(PKD1):c.689G>C (p.Cys230Ser) rs1255640370
NM_001009944.3(PKD1):c.701C>T (p.Ala234Val)
NM_001009944.3(PKD1):c.7141G>A (p.Val2381Met) rs2092356831
NM_001009944.3(PKD1):c.7170G>A (p.Glu2390=) rs1567187083
NM_001009944.3(PKD1):c.7209+5G>A rs1596543034
NM_001009944.3(PKD1):c.7213T>C (p.Trp2405Arg)
NM_001009944.3(PKD1):c.723_725del (p.Phe242del)
NM_001009944.3(PKD1):c.7367AGG[2] (p.Glu2458del) rs1391744174
NM_001009944.3(PKD1):c.7525_7539dup (p.Val2509_Leu2513dup) rs2092331813
NM_001009944.3(PKD1):c.7544G>C (p.Arg2515Pro) rs2432404
NM_001009944.3(PKD1):c.7625G>A (p.Gly2542Asp)
NM_001009944.3(PKD1):c.7655C>G (p.Ala2552Gly) rs1596539967
NM_001009944.3(PKD1):c.7702A>G (p.Arg2568Gly) rs2092327341
NM_001009944.3(PKD1):c.7949T>G (p.Leu2650Arg) rs2092302943
NM_001009944.3(PKD1):c.8666_8674del (p.Ser2889_Ala2891del) rs771434359
NM_001009944.3(PKD1):c.8672CCAACTCCG[3] (p.2891ANS[3]) rs763199524
NM_001009944.3(PKD1):c.8830G>T (p.Val2944Phe) rs1555450761
NM_001009944.3(PKD1):c.9011T>C (p.Leu3004Pro) rs2151750242
NM_001009944.3(PKD1):c.910C>G (p.Arg304Gly) rs543328728
NM_001009944.3(PKD1):c.9412G>T (p.Val3138Leu) rs1358566538
NM_001009944.3(PKD1):c.9485G>T (p.Arg3162Leu) rs1189208643
NM_001009944.3(PKD1):c.9521A>C (p.His3174Pro) rs769045618
NM_001009944.3(PKD1):c.9889G>A (p.Val3297Met) rs775497330
NM_001009944.3(PKD1):c.9910G>A (p.Asp3304Asn)
NM_001015877.2(PHF6):c.1045A>G (p.Lys349Glu)
NM_001029896.2(WDR45):c.436G>A (p.Gly146Arg) rs1569523500
NM_001029896.2(WDR45):c.694C>T (p.Arg232Cys) rs1602537958
NM_001032221.6(STXBP1):c.193A>G (p.Arg65Gly) rs1564348737
NM_001038603.3(MARVELD2):c.54A>T (p.Pro18=) rs1766529188
NM_001040142.2(SCN2A):c.1385C>T (p.Ala462Val) rs769825203
NM_001040142.2(SCN2A):c.2033C>T (p.Thr678Ile) rs1446046264
NM_001040142.2(SCN2A):c.2351C>T (p.Thr784Met) rs758872788
NM_001040142.2(SCN2A):c.23C>A (p.Pro8Gln) rs747139785
NM_001040142.2(SCN2A):c.4534C>T (p.Pro1512Ser) rs1558879940
NM_001040142.2(SCN2A):c.4992C>T (p.Gly1664=) rs1411813809
NM_001040142.2(SCN2A):c.5623C>T (p.Leu1875Phe) rs1553463764
NM_001040142.2(SCN2A):c.580T>C (p.Leu194=) rs1015952309
NM_001040142.2(SCN2A):c.629T>G (p.Leu210Arg) rs1559352517
NM_001042432.2(CLN3):c.1285C>T (p.Pro429Ser) rs1433950864
NM_001042492.3(NF1):c.1722-24A>G rs1567845793
NM_001042492.3(NF1):c.179C>G (p.Thr60Ser) rs1007047958
NM_001042492.3(NF1):c.1919C>A (p.Thr640Asn)
NM_001042492.3(NF1):c.2116G>C (p.Ala706Pro)
NM_001042492.3(NF1):c.269T>G (p.Leu90Arg) rs1555605393
NM_001042492.3(NF1):c.3317A>G (p.Tyr1106Cys) rs1567850987
NM_001042492.3(NF1):c.3611G>A (p.Arg1204Gln) rs1057521848
NM_001042492.3(NF1):c.4337T>C (p.Leu1446Pro) rs199474733
NM_001042492.3(NF1):c.4430G>C (p.Arg1477Thr) rs1060500293
NM_001042492.3(NF1):c.4831C>T (p.Arg1611Trp) rs1060500316
NM_001042492.3(NF1):c.6006G>T (p.Gln2002His) rs1555534432
NM_001042492.3(NF1):c.6147G>A (p.Lys2049=)
NM_001042492.3(NF1):c.7869+5G>C rs1555536725
NM_001042492.3(NF1):c.913A>G (p.Lys305Glu) rs1567835041
NM_001077365.2(POMT1):c.1190C>A (p.Ala397Asp) rs1564364465
NM_001077365.2(POMT1):c.1315A>T (p.Ile439Phe)
NM_001077365.2(POMT1):c.178T>C (p.Phe60Leu) rs1564332130
NM_001077365.2(POMT1):c.195GCC[1] (p.Pro67del)
NM_001077365.2(POMT1):c.2050T>C (p.Tyr684His) rs113633543
NM_001077365.2(POMT1):c.539+3A>C rs780457748
NM_001079872.2(CUL4B):c.1257-5T>C rs1569390976
NM_001079872.2(CUL4B):c.288_303delinsT (p.Ile97_Leu101del) rs996678112
NM_001079872.2(CUL4B):c.88A>G (p.Thr30Ala) rs1569396573
NM_001083961.2(WDR62):c.1958+6G>C rs1358241161
NM_001100.4(ACTA1):c.1061T>C (p.Phe354Ser)
NM_001101.5(ACTB):c.1043C>T (p.Ser348Leu) rs886041309
NM_001110792.2(MECP2):c.1284G>C (p.Glu428Asp) rs1603307532
NM_001110792.2(MECP2):c.1458T>C (p.Pro486=) rs1557134910
NM_001112741.2(KCNC1):c.1384C>T (p.Arg462Trp) rs1284178894
NM_001122752.2(SERPINI1):c.1139T>C (p.Ile380Thr) rs1560020646
NM_001122955.4(BSCL2):c.1006-8C>T rs1057521013
NM_001122955.4(BSCL2):c.1300T>G (p.Ser434Ala) rs199584887
NM_001122955.4(BSCL2):c.419C>G (p.Ser140Cys) rs1590881712
NM_001122955.4(BSCL2):c.422C>T (p.Ser141Phe) rs1590881708
NM_001122955.4(BSCL2):c.631-6C>A rs768294248
NM_001126108.2(SLC12A3):c.1625TCA[1] (p.Ile543del) rs1567434967
NM_001126108.2(SLC12A3):c.1756_1776dup (p.Trp586_Ala592dup) rs2144723364
NM_001126128.2(PROK2):c.57G>C (p.Leu19=)
NM_001127222.2(CACNA1A):c.1504T>C (p.Cys502Arg)
NM_001127222.2(CACNA1A):c.1534G>C (p.Glu512Gln) rs375210532
NM_001127222.2(CACNA1A):c.1555+5G>A
NM_001127222.2(CACNA1A):c.1556A>C (p.Tyr519Ser)
NM_001127222.2(CACNA1A):c.1669G>T (p.Val557Phe) rs1568519134
NM_001127222.2(CACNA1A):c.1763G>A (p.Arg588His)
NM_001127222.2(CACNA1A):c.18C>T (p.Asp6=)
NM_001127222.2(CACNA1A):c.1906G>C (p.Gly636Arg) rs943419160
NM_001127222.2(CACNA1A):c.1931G>A (p.Gly644Glu)
NM_001127222.2(CACNA1A):c.1987-9C>A rs747420630
NM_001127222.2(CACNA1A):c.2362G>A (p.Ala788Thr) rs1568509752
NM_001127222.2(CACNA1A):c.2505C>T (p.Thr835=) rs1246254915
NM_001127222.2(CACNA1A):c.2518_2529delinsCGG (p.Ala840_Pro843delinsArg) rs2144956802
NM_001127222.2(CACNA1A):c.2611C>T (p.Pro871Ser) rs780462531
NM_001127222.2(CACNA1A):c.2692G>C (p.Gly898Arg) rs751726770
NM_001127222.2(CACNA1A):c.2726G>A (p.Ser909Asn) rs1248444650
NM_001127222.2(CACNA1A):c.2857G>A (p.Gly953Arg) rs1057518292
NM_001127222.2(CACNA1A):c.2931G>C (p.Ala977=)
NM_001127222.2(CACNA1A):c.2989G>A (p.Asp997Asn) rs2057721376
NM_001127222.2(CACNA1A):c.3002G>T (p.Arg1001Leu) rs1424294725
NM_001127222.2(CACNA1A):c.302A>C (p.Glu101Ala) rs2060985088
NM_001127222.2(CACNA1A):c.3079C>T (p.Arg1027Trp)
NM_001127222.2(CACNA1A):c.3109G>A (p.Val1037Ile) rs769061598
NM_001127222.2(CACNA1A):c.3190G>A (p.Asp1064Asn)
NM_001127222.2(CACNA1A):c.3302C>T (p.Thr1101Ile) rs768567834
NM_001127222.2(CACNA1A):c.3410C>G (p.Pro1137Arg) rs200333359
NM_001127222.2(CACNA1A):c.3469G>C (p.Ala1157Pro)
NM_001127222.2(CACNA1A):c.3532C>A (p.Leu1178Ile) rs556266465
NM_001127222.2(CACNA1A):c.3532C>T (p.Leu1178Phe) rs556266465
NM_001127222.2(CACNA1A):c.3535A>C (p.Asn1179His) rs964526144
NM_001127222.2(CACNA1A):c.3553+5G>C rs1600245165
NM_001127222.2(CACNA1A):c.3606GGA[3] (p.Glu1206del) rs750826355
NM_001127222.2(CACNA1A):c.3848T>C (p.Phe1283Ser) rs2057169274
NM_001127222.2(CACNA1A):c.3946G>A (p.Asp1316Asn) rs1568485068
NM_001127222.2(CACNA1A):c.4028C>T (p.Ser1343Phe)
NM_001127222.2(CACNA1A):c.4228A>G (p.Lys1410Glu) rs932772664
NM_001127222.2(CACNA1A):c.4250+4G>C
NM_001127222.2(CACNA1A):c.4250G>A (p.Arg1417Gln) rs1568471977
NM_001127222.2(CACNA1A):c.4251-7G>A rs761136437
NM_001127222.2(CACNA1A):c.4298G>A (p.Arg1433Gln) rs2144758462
NM_001127222.2(CACNA1A):c.4448G>T (p.Arg1483Leu) rs1271930393
NM_001127222.2(CACNA1A):c.4574G>A (p.Ser1525Asn) rs2056600119
NM_001127222.2(CACNA1A):c.4867-7dup rs2056196193
NM_001127222.2(CACNA1A):c.4874T>G (p.Phe1625Cys) rs771061659
NM_001127222.2(CACNA1A):c.4950+3668C>T
NM_001127222.2(CACNA1A):c.4997G>A (p.Arg1666Gln) rs1568447650
NM_001127222.2(CACNA1A):c.5053G>A (p.Val1685Met) rs1442400930
NM_001127222.2(CACNA1A):c.5141G>A (p.Gly1714Asp)
NM_001127222.2(CACNA1A):c.5162A>G (p.Glu1721Gly) rs1273682125
NM_001127222.2(CACNA1A):c.5165A>G (p.Asp1722Gly)
NM_001127222.2(CACNA1A):c.5209A>T (p.Asn1737Tyr) rs2144646664
NM_001127222.2(CACNA1A):c.5249G>A (p.Arg1750Gln) rs781588570
NM_001127222.2(CACNA1A):c.5401-9T>A
NM_001127222.2(CACNA1A):c.5464A>G (p.Ile1822Val) rs1600127153
NM_001127222.2(CACNA1A):c.5530G>A (p.Gly1844Ser) rs1568439088
NM_001127222.2(CACNA1A):c.5552T>C (p.Met1851Thr)
NM_001127222.2(CACNA1A):c.5761G>A (p.Glu1921Lys) rs2144537759
NM_001127222.2(CACNA1A):c.5827A>G (p.Thr1943Ala) rs2144537372
NM_001127222.2(CACNA1A):c.592C>G (p.Arg198Gly) rs886042230
NM_001127222.2(CACNA1A):c.593G>A (p.Arg198Gln) rs797045424
NM_001127222.2(CACNA1A):c.622G>A (p.Gly208Arg) rs1568581246
NM_001127222.2(CACNA1A):c.631+4C>T rs1568581241
NM_001127222.2(CACNA1A):c.631+5G>A rs786200963
NM_001127222.2(CACNA1A):c.7061C>T (p.Pro2354Leu) rs1421650967
NM_001127222.2(CACNA1A):c.7210C>G (p.Pro2404Ala)
NM_001127222.2(CACNA1A):c.7240G>A (p.Asp2414Asn) rs1568416040
NM_001127222.2(CACNA1A):c.7282G>A (p.Glu2428Lys)
NM_001127222.2(CACNA1A):c.7318G>A (p.Val2440Ile)
NM_001127222.2(CACNA1A):c.7318_7332dup (p.Ser2444_Ser2445insValArgHisAlaSer)
NM_001127222.2(CACNA1A):c.7322G>A (p.Arg2441Gln)
NM_001127222.2(CACNA1A):c.7347G>A (p.Gly2449=)
NM_001127222.2(CACNA1A):c.7348C>T (p.Arg2450Cys) rs1397153104
NM_001127222.2(CACNA1A):c.7433C>T (p.Pro2478Leu)
NM_001127222.2(CACNA1A):c.7436C>G (p.Ala2479Gly) rs758817759
NM_001127222.2(CACNA1A):c.75G>T (p.Val25=)
NM_001127222.2(CACNA1A):c.811C>G (p.Pro271Ala)
NM_001127222.2(CACNA1A):c.832G>A (p.Ala278Thr) rs1013100046
NM_001127222.2(CACNA1A):c.835C>T (p.Arg279Cys) rs1555773764
NM_001127222.2(CACNA1A):c.889G>A (p.Gly297Arg) rs1168625480
NM_001127222.2(CACNA1A):c.901T>C (p.Phe301Leu) rs1599276954
NM_001127222.2(CACNA1A):c.967CTC[1] (p.Leu324del)
NM_001127453.2(GSDME):c.1184-6C>T
NM_001128228.3(TPRN):c.1424T>C (p.Leu475Pro) rs1588775926
NM_001130438.3(SPTAN1):c.2158C>A (p.His720Asn) rs191761167
NM_001130438.3(SPTAN1):c.4829G>A (p.Arg1610Gln) rs1564286745
NM_001130438.3(SPTAN1):c.7061A>C (p.Lys2354Thr) rs768911375
NM_001130987.2(DYSF):c.128T>G (p.Val43Gly)
NM_001130987.2(DYSF):c.2615T>G (p.Val872Gly) rs1574041904
NM_001130987.2(DYSF):c.2677C>A (p.Leu893Met)
NM_001130987.2(DYSF):c.3066C>G (p.Asn1022Lys)
NM_001130987.2(DYSF):c.3678C>G (p.Ile1226Met) rs148858485
NM_001130987.2(DYSF):c.4238A>G (p.Glu1413Gly) rs2093790724
NM_001130987.2(DYSF):c.4244A>C (p.Tyr1415Ser) rs775254512
NM_001130987.2(DYSF):c.4810A>G (p.Arg1604Gly) rs1558750109
NM_001130987.2(DYSF):c.5171G>C (p.Cys1724Ser)
NM_001130987.2(DYSF):c.889-7C>G
NM_001134407.3(GRIN2A):c.916A>T (p.Met306Leu) rs778386295
NM_001136472.2(LITAF):c.377+9G>C rs2141700636
NM_001146262.4(SYT14):c.1154_1155delinsTT (p.Tyr385Phe)
NM_001146262.4(SYT14):c.1444A>G (p.Met482Val)
NM_001146262.4(SYT14):c.1447G>A (p.Gly483Ser) rs1572398156
NM_001146262.4(SYT14):c.1495_1500del (p.Asn499_Pro500del) rs932441943
NM_001146262.4(SYT14):c.1649A>G (p.Glu550Gly) rs2083362615
NM_001146262.4(SYT14):c.1655A>G (p.Asn552Ser)
NM_001146262.4(SYT14):c.198_203del (p.Ser66_Thr67del) rs775846620
NM_001146262.4(SYT14):c.367T>C (p.Trp123Arg) rs746405453
NM_001146262.4(SYT14):c.42A>G (p.Glu14=)
NM_001146262.4(SYT14):c.61+13142G>T rs2079149912
NM_001146262.4(SYT14):c.774A>C (p.Glu258Asp)
NM_001159699.2(FHL1):c.*7_*8del
NM_001159699.2(FHL1):c.676G>A (p.Val226Met)
NM_001161352.2(KCNMA1):c.30_56del (p.Ser11_Gly19del) rs1163075445
NM_001164508.2(NEB):c.18974A>G (p.Lys6325Arg)
NM_001164508.2(NEB):c.19904A>C (p.Asp6635Ala)
NM_001164508.2(NEB):c.21207+3A>G
NM_001164508.2(NEB):c.21392T>C (p.Leu7131Pro) rs2092301005
NM_001164508.2(NEB):c.23172C>G (p.Gly7724=)
NM_001164508.2(NEB):c.8935A>G (p.Ile2979Val) rs1250321534
NM_001165963.4(SCN1A):c.2111T>C (p.Leu704Pro) rs1131691747
NM_001165963.4(SCN1A):c.2117A>T (p.Asp706Val) rs1574209133
NM_001165963.4(SCN1A):c.2824C>T (p.Leu942=)
NM_001165963.4(SCN1A):c.4230T>G (p.Asn1410Lys) rs1691043368
NM_001165963.4(SCN1A):c.4476G>C (p.Lys1492Asn)
NM_001165963.4(SCN1A):c.4487A>C (p.Gln1496Pro) rs2105462677
NM_001165963.4(SCN1A):c.4821T>G (p.Phe1607Leu) rs1241198360
NM_001165963.4(SCN1A):c.4952A>C (p.Lys1651Thr) rs1553520446
NM_001165963.4(SCN1A):c.5117A>G (p.Asn1706Ser) rs1553520340
NM_001165963.4(SCN1A):c.746A>T (p.Asp249Val) rs762927460
NM_001166114.2(PNPLA6):c.1049C>T (p.Thr350Ile)
NM_001166114.2(PNPLA6):c.1054A>C (p.Thr352Pro) rs751885710
NM_001166114.2(PNPLA6):c.1060C>T (p.Pro354Ser) rs1309856946
NM_001166114.2(PNPLA6):c.1469G>A (p.Arg490His)
NM_001166114.2(PNPLA6):c.3598C>T (p.Arg1200Trp) rs754590075
NM_001166114.2(PNPLA6):c.3627C>G (p.Ser1209=) rs1568423844
NM_001166114.2(PNPLA6):c.3697T>C (p.Tyr1233His)
NM_001166114.2(PNPLA6):c.3782G>A (p.Arg1261Gln) rs1354670102
NM_001166114.2(PNPLA6):c.619C>G (p.Leu207Val) rs751202036
NM_001166114.2(PNPLA6):c.795+8A>G
NM_001178015.2(SLC4A10):c.882G>A (p.Gly294=)
NM_001182.5(ALDH7A1):c.267A>G (p.Glu89=) rs1561672574
NM_001184880.2(PCDH19):c.1018A>C (p.Asn340His)
NM_001184880.2(PCDH19):c.470A>C (p.Asp157Ala) rs1569315869
NM_001184880.2(PCDH19):c.661A>G (p.Thr221Ala)
NM_001195248.2(APTX):c.1003C>T (p.His335Tyr) rs1828537508
NM_001195248.2(APTX):c.491T>C (p.Leu164Pro) rs1367238962
NM_001195248.2(APTX):c.719G>T (p.Gly240Val)
NM_001195248.2(APTX):c.779A>G (p.His260Arg) rs1324748344
NM_001195248.2(APTX):c.873A>G (p.Gln291=)
NM_001199107.2(TBC1D24):c.1606del (p.Gln536fs) rs1567414972
NM_001199107.2(TBC1D24):c.554_559del (p.Asp185_Leu186del) rs1215641557
NM_001242896.3(DEPDC5):c.3799G>A (p.Asp1267Asn) rs1340279120
NM_001244008.2(KIF1A):c.1022C>T (p.Thr341Ile)
NM_001244008.2(KIF1A):c.1768+4T>C rs780489790
NM_001244008.2(KIF1A):c.1898G>A (p.Arg633His) rs1553633823
NM_001244008.2(KIF1A):c.1A>G (p.Met1Val) rs1559538947
NM_001244008.2(KIF1A):c.220T>A (p.Tyr74Asn) rs2126092196
NM_001244008.2(KIF1A):c.2748G>T (p.Glu916Asp)
NM_001244008.2(KIF1A):c.2750_2751insTGAGGAGGAGGA (p.Glu916_Glu917insAspGluGluGlu) rs878988727
NM_001244008.2(KIF1A):c.3221T>G (p.Leu1074Arg)
NM_001244008.2(KIF1A):c.3223C>T (p.Leu1075Phe)
NM_001244008.2(KIF1A):c.3263T>C (p.Leu1088Pro)
NM_001244008.2(KIF1A):c.3886C>G (p.Arg1296Gly) rs201684653
NM_001244008.2(KIF1A):c.4694A>G (p.Asn1565Ser) rs755380517
NM_001244008.2(KIF1A):c.5350AGG[1] (p.Arg1785del) rs760590728
NM_001256545.2(MEGF10):c.227A>G (p.Tyr76Cys) rs1362646575
NM_001267550.2(TTN):c.10018A>G (p.Met3340Val)
NM_001267550.2(TTN):c.100397G>A (p.Arg33466His) rs189626540
NM_001267550.2(TTN):c.101242A>C (p.Thr33748Pro) rs1575292990
NM_001267550.2(TTN):c.101291C>T (p.Ala33764Val) rs773542514
NM_001267550.2(TTN):c.101567A>T (p.Asp33856Val) rs1690813389
NM_001267550.2(TTN):c.102287C>A (p.Thr34096Asn) rs375002174
NM_001267550.2(TTN):c.103628C>T (p.Pro34543Leu) rs1575257488
NM_001267550.2(TTN):c.103795A>G (p.Arg34599Gly)
NM_001267550.2(TTN):c.104498C>T (p.Ala34833Val) rs1164350939
NM_001267550.2(TTN):c.10564G>A (p.Ala3522Thr) rs794729587
NM_001267550.2(TTN):c.105865A>G (p.Thr35289Ala)
NM_001267550.2(TTN):c.106895G>A (p.Gly35632Asp) rs1210557316
NM_001267550.2(TTN):c.107365_107371delinsA (p.Leu35789_Val35791delinsIle)
NM_001267550.2(TTN):c.107456A>G (p.Gln35819Arg)
NM_001267550.2(TTN):c.10772G>A (p.Ser3591Asn) rs1561088135
NM_001267550.2(TTN):c.11584C>T (p.Pro3862Ser) rs375406698
NM_001267550.2(TTN):c.13721A>T (p.Glu4574Val) rs1212225396
NM_001267550.2(TTN):c.13888A>G (p.Thr4630Ala) rs1560892224
NM_001267550.2(TTN):c.14366T>A (p.Val4789Glu) rs1560878359
NM_001267550.2(TTN):c.14792G>A (p.Gly4931Glu) rs1204206553
NM_001267550.2(TTN):c.15823G>A (p.Gly5275Arg) rs1019067272
NM_001267550.2(TTN):c.15899C>T (p.Pro5300Leu) rs1248409979
NM_001267550.2(TTN):c.16886G>A (p.Ser5629Asn) rs758096327
NM_001267550.2(TTN):c.17420A>G (p.Asp5807Gly) rs1167663430
NM_001267550.2(TTN):c.17551G>A (p.Glu5851Lys)
NM_001267550.2(TTN):c.17882C>T (p.Ala5961Val) rs909915866
NM_001267550.2(TTN):c.19403G>A (p.Cys6468Tyr)
NM_001267550.2(TTN):c.19967C>G (p.Ser6656Cys) rs761716450
NM_001267550.2(TTN):c.20852T>A (p.Val6951Asp) rs1578062152
NM_001267550.2(TTN):c.21155A>G (p.Asn7052Ser) rs1553913467
NM_001267550.2(TTN):c.21575C>T (p.Ala7192Val) rs1560705548
NM_001267550.2(TTN):c.21576A>G (p.Ala7192=)
NM_001267550.2(TTN):c.22240+5T>C
NM_001267550.2(TTN):c.22497_22498insTCAGCATCCAACCCACTTGGAACAACA (p.Thr7499_Ala7500insSerAlaSerAsnProLeuGlyThrThr) rs763282322
NM_001267550.2(TTN):c.23103dup (p.Pro7702fs)
NM_001267550.2(TTN):c.23377+2T>C rs2154300619
NM_001267550.2(TTN):c.24383T>C (p.Leu8128Pro)
NM_001267550.2(TTN):c.25271A>G (p.Gln8424Arg)
NM_001267550.2(TTN):c.26287G>A (p.Glu8763Lys)
NM_001267550.2(TTN):c.26656G>A (p.Gly8886Ser) rs72648991
NM_001267550.2(TTN):c.26949A>T (p.Leu8983Phe) rs878969676
NM_001267550.2(TTN):c.28165A>G (p.Ile9389Val) rs1577825049
NM_001267550.2(TTN):c.29208G>C (p.Trp9736Cys) rs1560531040
NM_001267550.2(TTN):c.31402C>T (p.Gln10468Ter)
NM_001267550.2(TTN):c.31762+5_31762+7del rs397517538
NM_001267550.2(TTN):c.32291C>G (p.Ala10764Gly) rs1212672815
NM_001267550.2(TTN):c.3252del (p.Phe1084fs) rs2092854679
NM_001267550.2(TTN):c.32653A>G (p.Met10885Val) rs200732179
NM_001267550.2(TTN):c.32750C>A (p.Pro10917Gln) rs73973137
NM_001267550.2(TTN):c.3287G>T (p.Gly1096Val) rs2154349693
NM_001267550.2(TTN):c.33656C>T (p.Pro11219Leu) rs757268986
NM_001267550.2(TTN):c.36406C>G (p.Pro12136Ala)
NM_001267550.2(TTN):c.36413C>A (p.Ala12138Asp)
NM_001267550.2(TTN):c.37474A>T (p.Lys12492Ter)
NM_001267550.2(TTN):c.37502C>T (p.Pro12501Leu) rs1236045684
NM_001267550.2(TTN):c.38344G>A (p.Ala12782Thr)
NM_001267550.2(TTN):c.38660del (p.Lys12887fs) rs761617432
NM_001267550.2(TTN):c.39290C>G (p.Pro13097Arg) rs924318627
NM_001267550.2(TTN):c.39434C>T (p.Ala13145Val)
NM_001267550.2(TTN):c.39628C>T (p.Pro13210Ser)
NM_001267550.2(TTN):c.39956A>C (p.Glu13319Ala) rs909744052
NM_001267550.2(TTN):c.403G>A (p.Val135Met)
NM_001267550.2(TTN):c.40558G>C (p.Val13520Leu) rs587780488
NM_001267550.2(TTN):c.40559-8C>G rs2061204822
NM_001267550.2(TTN):c.40927+1G>A rs1553749862
NM_001267550.2(TTN):c.41002CCT[1] (p.Pro13669del) rs747793660
NM_001267550.2(TTN):c.4126T>C (p.Ser1376Pro) rs1060500425
NM_001267550.2(TTN):c.41341C>T (p.Arg13781Cys) rs768469221
NM_001267550.2(TTN):c.42278A>G (p.Lys14093Arg) rs1553743733
NM_001267550.2(TTN):c.42439C>T (p.Pro14147Ser) rs1559970037
NM_001267550.2(TTN):c.43263G>A (p.Glu14421=)
NM_001267550.2(TTN):c.43433T>A (p.Met14478Lys) rs1576690561
NM_001267550.2(TTN):c.4440T>G (p.Val1480=)
NM_001267550.2(TTN):c.46304+3A>T rs866285912
NM_001267550.2(TTN):c.46406C>T (p.Ser15469Phe)
NM_001267550.2(TTN):c.46484C>A (p.Ala15495Asp) rs376839162
NM_001267550.2(TTN):c.4770G>C (p.Leu1590Phe)
NM_001267550.2(TTN):c.47874T>C (p.Phe15958=)
NM_001267550.2(TTN):c.48161-4del rs730880371
NM_001267550.2(TTN):c.48557G>T (p.Arg16186Leu) rs769784536
NM_001267550.2(TTN):c.485T>G (p.Leu162Arg) rs145438758
NM_001267550.2(TTN):c.48829G>A (p.Glu16277Lys)
NM_001267550.2(TTN):c.48921T>G (p.Ile16307Met) rs755394057
NM_001267550.2(TTN):c.49598C>T (p.Pro16533Leu) rs2056673499
NM_001267550.2(TTN):c.49638G>A (p.Lys16546=)
NM_001267550.2(TTN):c.51419T>C (p.Ile17140Thr)
NM_001267550.2(TTN):c.51944T>C (p.Val17315Ala)
NM_001267550.2(TTN):c.52160T>A (p.Leu17387His) rs2154197942
NM_001267550.2(TTN):c.53122_53123delinsGT (p.Lys17708Val) rs886042743
NM_001267550.2(TTN):c.53287+9T>A
NM_001267550.2(TTN):c.53348T>C (p.Leu17783Pro) rs777712545
NM_001267550.2(TTN):c.53593T>A (p.Ser17865Thr)
NM_001267550.2(TTN):c.53594C>T (p.Ser17865Phe) rs753095229
NM_001267550.2(TTN):c.55123G>A (p.Glu18375Lys)
NM_001267550.2(TTN):c.5713T>C (p.Tyr1905His) rs1477069650
NM_001267550.2(TTN):c.57506C>T (p.Ala19169Val)
NM_001267550.2(TTN):c.58352G>A (p.Arg19451His)
NM_001267550.2(TTN):c.59546A>G (p.His19849Arg) rs1576123979
NM_001267550.2(TTN):c.60007C>G (p.Arg20003Gly) rs1039014549
NM_001267550.2(TTN):c.60316C>A (p.Pro20106Thr) rs1576103220
NM_001267550.2(TTN):c.60413T>A (p.Ile20138Asn)
NM_001267550.2(TTN):c.61649C>T (p.Ser20550Leu)
NM_001267550.2(TTN):c.62756T>C (p.Leu20919Ser)
NM_001267550.2(TTN):c.6368G>A (p.Arg2123Gln) rs530807674
NM_001267550.2(TTN):c.64522G>A (p.Val21508Ile)
NM_001267550.2(TTN):c.65093G>A (p.Arg21698His) rs371581072
NM_001267550.2(TTN):c.6609C>G (p.Val2203=) rs2092059385
NM_001267550.2(TTN):c.66488C>T (p.Pro22163Leu) rs752183879
NM_001267550.2(TTN):c.67565G>C (p.Arg22522Thr) rs1221271318
NM_001267550.2(TTN):c.6938C>G (p.Thr2313Arg) rs794729579
NM_001267550.2(TTN):c.70801T>C (p.Tyr23601His) rs2154172198
NM_001267550.2(TTN):c.71698C>T (p.Arg23900Trp)
NM_001267550.2(TTN):c.75187G>C (p.Asp25063His) rs1707970781
NM_001267550.2(TTN):c.75872T>C (p.Leu25291Pro) rs1559388448
NM_001267550.2(TTN):c.77299T>A (p.Tyr25767Asn) rs1303024823
NM_001267550.2(TTN):c.77302C>G (p.Leu25768Val) rs541266544
NM_001267550.2(TTN):c.77515A>C (p.Lys25839Gln) rs1371831965
NM_001267550.2(TTN):c.78283C>G (p.Pro26095Ala)
NM_001267550.2(TTN):c.78676G>C (p.Glu26226Gln) rs754878387
NM_001267550.2(TTN):c.79579T>C (p.Cys26527Arg)
NM_001267550.2(TTN):c.80636A>C (p.Gln26879Pro)
NM_001267550.2(TTN):c.81210T>A (p.Phe27070Leu)
NM_001267550.2(TTN):c.82727A>G (p.Asn27576Ser) rs773621324
NM_001267550.2(TTN):c.84105A>C (p.Leu28035Phe) rs878854394
NM_001267550.2(TTN):c.84308A>T (p.His28103Leu) rs1559302136
NM_001267550.2(TTN):c.84791T>C (p.Ile28264Thr) rs1703588479
NM_001267550.2(TTN):c.85151G>A (p.Arg28384Gln)
NM_001267550.2(TTN):c.85810C>A (p.Pro28604Thr) rs1208500218
NM_001267550.2(TTN):c.85985A>T (p.Asp28662Val) rs1703115388
NM_001267550.2(TTN):c.87503G>T (p.Ser29168Ile)
NM_001267550.2(TTN):c.87785T>C (p.Val29262Ala) rs1053653300
NM_001267550.2(TTN):c.8786T>G (p.Ile2929Arg) rs757111808
NM_001267550.2(TTN):c.88009+4C>T
NM_001267550.2(TTN):c.88889C>A (p.Ala29630Glu)
NM_001267550.2(TTN):c.90049G>A (p.Glu30017Lys) rs1559211738
NM_001267550.2(TTN):c.90287A>T (p.Gln30096Leu)
NM_001267550.2(TTN):c.90535C>G (p.Arg30179Gly) rs769360937
NM_001267550.2(TTN):c.90586A>G (p.Lys30196Glu)
NM_001267550.2(TTN):c.91702G>A (p.Glu30568Lys)
NM_001267550.2(TTN):c.9187C>T (p.His3063Tyr)
NM_001267550.2(TTN):c.94322T>C (p.Ile31441Thr) rs1388468468
NM_001267550.2(TTN):c.95716C>T (p.Pro31906Ser) rs755949122
NM_001267550.2(TTN):c.96082G>A (p.Ala32028Thr)
NM_001267550.2(TTN):c.97492+3_97492+6dup rs755299669
NM_001267550.2(TTN):c.9769C>T (p.Arg3257Cys) rs374521620
NM_001267550.2(TTN):c.98171_98174dup (p.Ile32726fs) rs1275153634
NM_001267550.2(TTN):c.9832C>G (p.Leu3278Val) rs2090037981
NM_001267550.2(TTN):c.98758C>T (p.Arg32920Trp) rs755031142
NM_001267550.2(TTN):c.98994del (p.Lys32998fs) rs727504535
NM_001267550.2(TTN):c.99683T>A (p.Met33228Lys)
NM_001267550.2(TTN):c.99966G>T (p.Trp33322Cys) rs775769503
NM_001271.4(CHD2):c.1590C>T (p.His530=)
NM_001271.4(CHD2):c.4891C>T (p.His1631Tyr) rs774401500
NM_001278064.2(GRM1):c.1137C>T (p.Arg379=) rs1783517255
NM_001278064.2(GRM1):c.1156G>C (p.Glu386Gln)
NM_001278064.2(GRM1):c.1201G>A (p.Glu401Lys)
NM_001278064.2(GRM1):c.1524T>G (p.Asp508Glu) rs368772965
NM_001278064.2(GRM1):c.1723C>G (p.Leu575Val) rs1193170688
NM_001278064.2(GRM1):c.2000C>T (p.Ser667Phe)
NM_001278064.2(GRM1):c.2252T>C (p.Leu751Pro)
NM_001278064.2(GRM1):c.2661-7270G>A rs1778221372
NM_001278064.2(GRM1):c.2661-7293C>T
NM_001278064.2(GRM1):c.2860C>T (p.Leu954Phe) rs1583494926
NM_001278064.2(GRM1):c.2944G>A (p.Val982Met) rs867889855
NM_001278064.2(GRM1):c.2962A>G (p.Thr988Ala) rs1583495145
NM_001278064.2(GRM1):c.3039G>T (p.Leu1013Phe)
NM_001278064.2(GRM1):c.3138G>A (p.Pro1046=)
NM_001278064.2(GRM1):c.3155T>A (p.Leu1052Gln) rs1268764914
NM_001278064.2(GRM1):c.3178A>G (p.Asn1060Asp) rs755308114
NM_001278064.2(GRM1):c.3181G>C (p.Gly1061Arg)
NM_001278064.2(GRM1):c.3194_3199dup (p.Leu1065_Tyr1066dup) rs774663606
NM_001278064.2(GRM1):c.3202C>T (p.Pro1068Ser)
NM_001278064.2(GRM1):c.3207G>A (p.Pro1069=)
NM_001278064.2(GRM1):c.3212C>G (p.Pro1071Arg) rs149072960
NM_001278064.2(GRM1):c.3245T>C (p.Leu1082Pro)
NM_001278064.2(GRM1):c.3283GAC[6] (p.Asp1099dup) rs750936487
NM_001278064.2(GRM1):c.32C>G (p.Ala11Gly)
NM_001278064.2(GRM1):c.3341A>T (p.Glu1114Val)
NM_001278064.2(GRM1):c.3366C>A (p.Asp1122Glu)
NM_001278064.2(GRM1):c.3456C>T (p.Arg1152=)
NM_001278064.2(GRM1):c.3524C>T (p.Pro1175Leu)
NM_001278064.2(GRM1):c.457A>G (p.Lys153Glu)
NM_001278064.2(GRM1):c.829C>A (p.Leu277Ile) rs1022097029
NM_001278064.2(GRM1):c.885A>C (p.Thr295=)
NM_001278116.2(L1CAM):c.124C>T (p.Pro42Ser)
NM_001278116.2(L1CAM):c.2739C>T (p.Thr913=)
NM_001278116.2(L1CAM):c.707T>C (p.Ile236Thr)
NM_001291415.2(KDM6A):c.3811T>C (p.Trp1271Arg) rs2045816079
NM_001292063.2(OTOG):c.1042G>A (p.Ala348Thr) rs191354103
NM_001292063.2(OTOG):c.4166C>T (p.Pro1389Leu)
NM_001293298.2(CEMIP):c.617G>A (p.Arg206Gln)
NM_001330260.2(SCN8A):c.4877G>T (p.Arg1626Leu) rs886044328
NM_001347702.2(SYNE1):c.1456G>A (p.Glu486Lys)
NM_001347702.2(SYNE1):c.1505C>T (p.Thr502Ile)
NM_001353921.2(ARHGEF9):c.246G>T (p.Gly82=)
NM_001358921.2(COQ2):c.706C>T (p.Leu236Phe)
NM_001358921.2(COQ2):c.731C>T (p.Thr244Ile)
NM_001365536.1(SCN9A):c.131AAG[1] (p.Glu45del) rs1198936365
NM_001365536.1(SCN9A):c.4399-10G>C
NM_001365999.1(SZT2):c.4187G>A (p.Ser1396Asn) rs1557564323
NM_001365999.1(SZT2):c.7692_7694del (p.Val2565del) rs1557591600
NM_001365999.1(SZT2):c.8330G>C (p.Ser2777Thr) rs1570720687
NM_001365999.1(SZT2):c.9439A>G (p.Ser3147Gly) rs754468503
NM_001367561.1(DOCK7):c.868G>A (p.Val290Ile) rs1329011971
NM_001367721.1(CASK):c.1669-7C>G rs780719523
NM_001370259.2(MEN1):c.586G>T (p.Val196Phe)
NM_001370298.3(FGD4):c.1008G>C (p.Met336Ile) rs1592295526
NM_001370298.3(FGD4):c.2450C>T (p.Pro817Leu)
NM_001370298.3(FGD4):c.376C>A (p.Pro126Thr) rs199744649
NM_001371279.1(REEP1):c.106-4A>G rs1677011138
NM_001371279.1(REEP1):c.116T>G (p.Met39Arg) rs1574052888
NM_001371279.1(REEP1):c.136G>A (p.Ala46Thr) rs1558898635
NM_001371279.1(REEP1):c.499C>T (p.Pro167Ser) rs896864468
NM_001371279.1(REEP1):c.786_787insAA (p.Pro263fs)
NM_001371596.2(MFSD8):c.1403G>A (p.Gly468Glu) rs1560715852
NM_001371727.1(GABRB2):c.448T>C (p.Tyr150His) rs1561657900
NM_001376.5(DYNC1H1):c.10078A>G (p.Ser3360Gly)
NM_001376.5(DYNC1H1):c.11894C>T (p.Ser3965Phe) rs1595630803
NM_001376.5(DYNC1H1):c.1626C>T (p.Gly542=) rs1566998995
NM_001376.5(DYNC1H1):c.5049+8T>C rs2141288581
NM_001376.5(DYNC1H1):c.6847G>A (p.Val2283Met) rs374569905
NM_001376.5(DYNC1H1):c.7409C>T (p.Ala2470Val) rs774419538
NM_001376.5(DYNC1H1):c.8055+6T>A rs766505305
NM_001377265.1(MAPT):c.2090G>T (p.Ser697Ile) rs63751165
NM_001378120.1(MBD5):c.1680G>T (p.Met560Ile) rs1574460777
NM_001378120.1(MBD5):c.4073C>T (p.Ala1358Val)
NM_001378452.1(ITPR1):c.*7G>T
NM_001378452.1(ITPR1):c.1548C>G (p.Leu516=)
NM_001378452.1(ITPR1):c.1614G>A (p.Leu538=) rs1297659569
NM_001378452.1(ITPR1):c.1639G>T (p.Ala547Ser)
NM_001378452.1(ITPR1):c.1808G>A (p.Arg603Gln)
NM_001378452.1(ITPR1):c.1813C>A (p.Leu605Ile)
NM_001378452.1(ITPR1):c.182G>C (p.Cys61Ser) rs1559566851
NM_001378452.1(ITPR1):c.1886+7C>G
NM_001378452.1(ITPR1):c.2111G>A (p.Ser704Asn) rs373694009
NM_001378452.1(ITPR1):c.2174A>C (p.Lys725Thr) rs797045632
NM_001378452.1(ITPR1):c.2315A>G (p.Glu772Gly) rs997975841
NM_001378452.1(ITPR1):c.2683A>G (p.Ile895Val) rs750473506
NM_001378452.1(ITPR1):c.2903C>T (p.Ala968Val)
NM_001378452.1(ITPR1):c.303G>C (p.Lys101Asn)
NM_001378452.1(ITPR1):c.3115G>C (p.Asp1039His) rs771308450
NM_001378452.1(ITPR1):c.3283C>T (p.Arg1095Trp) rs752791333
NM_001378452.1(ITPR1):c.3318C>G (p.Ala1106=) rs2094337722
NM_001378452.1(ITPR1):c.3437G>A (p.Gly1146Glu)
NM_001378452.1(ITPR1):c.366+6T>A rs1559591437
NM_001378452.1(ITPR1):c.3872T>G (p.Phe1291Cys) rs1574879586
NM_001378452.1(ITPR1):c.4157A>T (p.His1386Leu) rs1172066127
NM_001378452.1(ITPR1):c.4351T>C (p.Tyr1451His)
NM_001378452.1(ITPR1):c.4377G>T (p.Leu1459Phe) rs566552796
NM_001378452.1(ITPR1):c.4538C>G (p.Thr1513Ser)
NM_001378452.1(ITPR1):c.458A>G (p.Glu153Gly) rs1414031340
NM_001378452.1(ITPR1):c.4606C>T (p.Pro1536Ser)
NM_001378452.1(ITPR1):c.4633T>A (p.Cys1545Ser) rs1559731146
NM_001378452.1(ITPR1):c.4696A>G (p.Ser1566Gly) rs2125272782
NM_001378452.1(ITPR1):c.4759C>T (p.Arg1587Trp)
NM_001378452.1(ITPR1):c.5087G>A (p.Arg1696Lys)
NM_001378452.1(ITPR1):c.5104-5T>G rs775238471
NM_001378452.1(ITPR1):c.5113A>G (p.Ile1705Val)
NM_001378452.1(ITPR1):c.5143C>T (p.Pro1715Ser)
NM_001378452.1(ITPR1):c.515T>C (p.Ile172Thr)
NM_001378452.1(ITPR1):c.5194C>A (p.Leu1732Met) rs370179124
NM_001378452.1(ITPR1):c.5267T>C (p.Val1756Ala)
NM_001378452.1(ITPR1):c.5354-10A>G
NM_001378452.1(ITPR1):c.5407G>A (p.Val1803Ile) rs1575064573
NM_001378452.1(ITPR1):c.5572G>A (p.Asp1858Asn)
NM_001378452.1(ITPR1):c.5735C>T (p.Pro1912Leu)
NM_001378452.1(ITPR1):c.5770C>T (p.Leu1924Phe) rs2125376319
NM_001378452.1(ITPR1):c.5780C>T (p.Ala1927Val)
NM_001378452.1(ITPR1):c.5836G>A (p.Asp1946Asn)
NM_001378452.1(ITPR1):c.5840A>C (p.His1947Pro) rs763857989
NM_001378452.1(ITPR1):c.5859C>T (p.Gly1953=)
NM_001378452.1(ITPR1):c.5874C>A (p.Ala1958=)
NM_001378452.1(ITPR1):c.5890G>A (p.Asp1964Asn)
NM_001378452.1(ITPR1):c.6112G>A (p.Val2038Ile)
NM_001378452.1(ITPR1):c.6274C>T (p.Leu2092Phe) rs2125389919
NM_001378452.1(ITPR1):c.6558C>T (p.Gly2186=) rs1256884190
NM_001378452.1(ITPR1):c.6933A>G (p.Gly2311=) rs2125423186
NM_001378452.1(ITPR1):c.6935C>A (p.Thr2312Asn)
NM_001378452.1(ITPR1):c.7042A>G (p.Thr2348Ala) rs753499808
NM_001378452.1(ITPR1):c.7515T>G (p.Cys2505Trp)
NM_001378452.1(ITPR1):c.7562-10G>A
NM_001378452.1(ITPR1):c.7648G>A (p.Gly2550Arg) rs1553757628
NM_001378452.1(ITPR1):c.7826A>C (p.Gln2609Pro)
NM_001378452.1(ITPR1):c.8239C>T (p.Pro2747Ser)
NM_001378452.1(ITPR1):c.893A>T (p.Tyr298Phe)
NM_001378454.1(ALMS1):c.7507G>T (p.Ala2503Ser) rs202060439
NM_001378778.1(MPDZ):c.635C>T (p.Ala212Val)
NM_001378969.1(KCND3):c.-1C>T rs2102000644
NM_001378969.1(KCND3):c.1027G>A (p.Glu343Lys) rs1557767012
NM_001378969.1(KCND3):c.1051T>C (p.Phe351Leu) rs1064794895
NM_001378969.1(KCND3):c.1109A>G (p.Tyr370Cys)
NM_001378969.1(KCND3):c.1387G>A (p.Glu463Lys) rs1571626257
NM_001378969.1(KCND3):c.1411C>T (p.Leu471Phe) rs1064796735
NM_001378969.1(KCND3):c.1549G>C (p.Glu517Gln) rs202110939
NM_001378969.1(KCND3):c.1588T>A (p.Ser530Thr)
NM_001378969.1(KCND3):c.1696C>T (p.Arg566Cys)
NM_001378969.1(KCND3):c.1888C>T (p.Arg630Trp)
NM_001378969.1(KCND3):c.1920G>A (p.Thr640=)
NM_001378969.1(KCND3):c.356C>A (p.Ala119Asp) rs2101998598
NM_001378969.1(KCND3):c.407A>G (p.Tyr136Cys) rs1675000214
NM_001378969.1(KCND3):c.431C>T (p.Ala144Val)
NM_001378969.1(KCND3):c.433G>A (p.Glu145Lys) rs1557768261
NM_001378969.1(KCND3):c.44C>T (p.Ala15Val) rs866544148
NM_001378969.1(KCND3):c.91C>T (p.Pro31Ser) rs1403997481
NM_001378969.1(KCND3):c.980C>T (p.Ser327Phe)
NM_001379110.1(SLC9A6):c.*5_*8delinsTT rs797044655
NM_001379110.1(SLC9A6):c.1599A>T (p.Glu533Asp) rs781949645
NM_001379110.1(SLC9A6):c.908G>T (p.Arg303Leu) rs782263851
NM_001379200.1(TBX1):c.1037-7_1037-6del rs1037168604
NM_001379200.1(TBX1):c.1484C>A (p.Pro495Gln) rs762076391
NM_001384474.1(LOXHD1):c.2557C>T (p.Arg853Cys) rs202178613
NM_001384474.1(LOXHD1):c.3287_3295del (p.Thr1096_Asn1098del) rs1488153218
NM_001384474.1(LOXHD1):c.4760G>C (p.Ser1587Thr) rs1318916998
NM_001386393.1(PANK2):c.176_177delinsCT (p.Ser59Thr) rs1568550594
NM_001540.5(HSPB1):c.149G>T (p.Ser50Ile) rs1404212306
NM_001540.5(HSPB1):c.19C>G (p.Pro7Ala)
NM_001540.5(HSPB1):c.20C>T (p.Pro7Leu) rs1405359814
NM_001540.5(HSPB1):c.248_249delinsAT (p.Ser83Asn) rs1563651975
NM_001540.5(HSPB1):c.438dup (p.Gly147fs) rs747325717
NM_001540.5(HSPB1):c.460T>G (p.Ser154Ala) rs1158758405
NM_001540.5(HSPB1):c.496G>C (p.Glu166Gln) rs1803069432
NM_001540.5(HSPB1):c.529A>T (p.Asn177Tyr)
NM_001614.5(ACTG1):c.1036C>G (p.Leu346Val) rs782217473
NM_001626.6(AKT2):c.1052A>G (p.Tyr351Cys)
NM_001844.5(COL2A1):c.631C>T (p.Pro211Ser) rs1565693325
NM_001845.6(COL4A1):c.347C>T (p.Pro116Leu) rs538816765
NM_001845.6(COL4A1):c.4151-10T>C
NM_001845.6(COL4A1):c.4757A>T (p.His1586Leu) rs1566332829
NM_001848.3(COL6A1):c.97+6T>G rs1569517559
NM_001854.4(COL11A1):c.4313G>C (p.Gly1438Ala)
NM_001927.4(DES):c.602A>G (p.Lys201Arg)
NM_001927.4(DES):c.821T>G (p.Leu274Arg) rs267607494
NM_001927.4(DES):c.999C>T (p.Cys333=) rs1157722667
NM_001961.4(EEF2):c.-7C>G rs779721890
NM_001961.4(EEF2):c.1011+5G>A
NM_001961.4(EEF2):c.1011+6G>T
NM_001961.4(EEF2):c.1107C>T (p.Cys369=)
NM_001961.4(EEF2):c.1110G>T (p.Glu370Asp)
NM_001961.4(EEF2):c.1150G>T (p.Gly384Cys) rs1439827287
NM_001961.4(EEF2):c.1251C>A (p.Phe417Leu) rs777339030
NM_001961.4(EEF2):c.1870G>A (p.Ala624Thr)
NM_001961.4(EEF2):c.1992C>A (p.Asp664Glu)
NM_001961.4(EEF2):c.219-10C>T
NM_001961.4(EEF2):c.2507C>T (p.Ala836Val)
NM_001961.4(EEF2):c.276C>T (p.Ser92=) rs757363616
NM_001961.4(EEF2):c.318C>A (p.Pro106=)
NM_001961.4(EEF2):c.388G>A (p.Asp130Asn)
NM_001961.4(EEF2):c.4-3C>G rs367708754
NM_001961.4(EEF2):c.709G>A (p.Ala237Thr)
NM_001961.4(EEF2):c.713C>T (p.Ala238Val)
NM_001961.4(EEF2):c.766A>G (p.Met256Val)
NM_001961.4(EEF2):c.787G>C (p.Asp263His) rs1599196364
NM_001961.4(EEF2):c.874C>T (p.Leu292=)
NM_001961.4(EEF2):c.905A>T (p.Asp302Val) rs1292653320
NM_002047.4(GARS1):c.104C>G (p.Ser35Cys) rs770934994
NM_002047.4(GARS1):c.1162C>T (p.Arg388Trp) rs759277467
NM_002047.4(GARS1):c.1171C>A (p.Arg391Ser) rs370057212
NM_002047.4(GARS1):c.1171C>T (p.Arg391Cys) rs370057212
NM_002047.4(GARS1):c.1812C>A (p.Phe604Leu)
NM_002047.4(GARS1):c.647A>G (p.His216Arg) rs768987322
NM_002055.5(GFAP):c.209G>A (p.Arg70Gln) rs267607510
NM_002055.5(GFAP):c.363_371dup (p.Arg124_Leu125insGluLeuArg)
NM_002055.5(GFAP):c.668A>T (p.Glu223Val) rs1597861228
NM_002055.5(GFAP):c.847_849del (p.Asn283del) rs2145634198
NM_002055.5(GFAP):c.906+9G>C rs372000966
NM_002087.4(GRN):c.837G>A (p.Val279=)
NM_002144.4(HOXB1):c.871_872delinsAA (p.Ser291Asn) rs1567932171
NM_002156.5(HSPD1):c.1701_1712del (p.565GGGM[1]) rs879486164
NM_002156.5(HSPD1):c.183A>G (p.Thr61=)
NM_002180.3(IGHMBP2):c.1235+10del rs747881237
NM_002241.5(KCNJ10):c.771T>C (p.His257=) rs775848365
NM_002292.4(LAMB2):c.3811G>A (p.Glu1271Lys) rs1560071889
NM_002296.4(LBR):c.1291G>A (p.Val431Met) rs1575221726
NM_002303.6(LEPR):c.2153A>G (p.Asn718Ser) rs1424702726
NM_002303.6(LEPR):c.2390T>G (p.Ile797Ser) rs1570831442
NM_002397.5(MEF2C):c.1360C>A (p.Pro454Thr)
NM_002473.6(MYH9):c.2000A>G (p.Asn667Ser) rs575821361
NM_002529.4(NTRK1):c.2141G>A (p.Gly714Asp) rs944740609
NM_002547.3(OPHN1):c.919C>T (p.Pro307Ser) rs1569242767
NM_002693.2(POLG):c.125_139dup rs780010436
NM_002693.3(POLG):c.1127T>C (p.Leu376Pro) rs2055555493
NM_002693.3(POLG):c.1171-10C>G rs1228287579
NM_002693.3(POLG):c.119GGC[4] (p.Arg42dup) rs761080016
NM_002693.3(POLG):c.1429G>A (p.Glu477Lys) rs1225242680
NM_002693.3(POLG):c.158_159delinsCT (p.Gln53Pro) rs1064795981
NM_002693.3(POLG):c.158_166del (p.Gln53_Gln55del) rs769735492
NM_002693.3(POLG):c.1659G>T (p.Lys553Asn) rs2055522603
NM_002693.3(POLG):c.1682A>G (p.Lys561Arg) rs1350960257
NM_002693.3(POLG):c.1784A>G (p.Gln595Arg) rs1567190319
NM_002693.3(POLG):c.1950-10C>A rs749522324
NM_002693.3(POLG):c.2265+1G>A
NM_002693.3(POLG):c.2287G>C (p.Gly763Arg) rs1567187837
NM_002693.3(POLG):c.2318A>G (p.Lys773Arg) rs1331031308
NM_002693.3(POLG):c.2481-6dup
NM_002693.3(POLG):c.2488G>A (p.Asp830Asn)
NM_002693.3(POLG):c.2539G>A (p.Ala847Thr) rs750203541
NM_002693.3(POLG):c.2593G>T (p.Ala865Ser) rs1596352780
NM_002693.3(POLG):c.2633T>C (p.Val878Ala)
NM_002693.3(POLG):c.2639C>A (p.Ala880Asp)
NM_002693.3(POLG):c.2644C>A (p.Pro882Thr) rs1567186802
NM_002693.3(POLG):c.2743G>A (p.Ala915Thr)
NM_002693.3(POLG):c.283C>A (p.Pro95Thr)
NM_002693.3(POLG):c.2852A>G (p.Tyr951Cys)
NM_002693.3(POLG):c.3155G>A (p.Gly1052Asp) rs769328030
NM_002693.3(POLG):c.3268G>A (p.Glu1090Lys) rs759284625
NM_002693.3(POLG):c.3294T>G (p.Asn1098Lys) rs374224714
NM_002693.3(POLG):c.3511A>C (p.Asn1171His) rs1567184138
NM_002693.3(POLG):c.3553A>G (p.Ile1185Val) rs2152056502
NM_002693.3(POLG):c.3554T>C (p.Ile1185Thr)
NM_002693.3(POLG):c.3662A>C (p.Tyr1221Ser) rs1567183150
NM_002693.3(POLG):c.3683A>G (p.Lys1228Arg) rs1596347221
NM_002693.3(POLG):c.406G>T (p.Asp136Tyr)
NM_002693.3(POLG):c.610G>T (p.Ala204Ser)
NM_002693.3(POLG):c.808A>G (p.Asn270Asp) rs2055575084
NM_002693.3(POLG):c.844T>G (p.Tyr282Asp) rs1290567099
NM_002693.3(POLG):c.856-17CTC[6] rs200056162
NM_002693.3(POLG):c.970C>A (p.Pro324Thr) rs2307437
NM_002693.3(POLG):c.970C>T (p.Pro324Ser) rs2307437
NM_002739.5(PRKCG):c.1055G>A (p.Ser352Asn) rs762206157
NM_002739.5(PRKCG):c.114C>T (p.Phe38=)
NM_002739.5(PRKCG):c.1195G>C (p.Glu399Gln) rs2068734193
NM_002739.5(PRKCG):c.1225G>C (p.Gly409Arg) rs1207949925
NM_002739.5(PRKCG):c.1290G>A (p.Leu430=)
NM_002739.5(PRKCG):c.1349G>A (p.Gly450Asp) rs2123016083
NM_002739.5(PRKCG):c.143T>C (p.Phe48Ser)
NM_002739.5(PRKCG):c.1553C>T (p.Thr518Ile) rs2068757477
NM_002739.5(PRKCG):c.1668T>G (p.Asp556Glu) rs1599954407
NM_002739.5(PRKCG):c.1706A>G (p.Glu569Gly) rs1461447265
NM_002739.5(PRKCG):c.1764+1G>A rs1406338491
NM_002739.5(PRKCG):c.208_231del (p.Ser70_Cys77del) rs1599938583
NM_002739.5(PRKCG):c.221A>G (p.His74Arg) rs1568749767
NM_002739.5(PRKCG):c.229T>C (p.Cys77Arg) rs386134160
NM_002739.5(PRKCG):c.230G>A (p.Cys77Tyr) rs1599938631
NM_002739.5(PRKCG):c.254G>T (p.Cys85Phe) rs1599938680
NM_002739.5(PRKCG):c.362T>C (p.Leu121Pro) rs1568752907
NM_002739.5(PRKCG):c.362_379dup (p.Leu121_His126dup) rs2068657289
NM_002739.5(PRKCG):c.367G>C (p.Gly123Arg) rs386134164
NM_002739.5(PRKCG):c.382G>C (p.Gly128Arg) rs1568752939
NM_002739.5(PRKCG):c.392G>A (p.Cys131Tyr) rs386134167
NM_002739.5(PRKCG):c.425G>A (p.Cys142Tyr)
NM_002739.5(PRKCG):c.448T>C (p.Cys150Arg) rs1599943341
NM_002739.5(PRKCG):c.466G>A (p.Glu156Lys) rs1304701232
NM_002739.5(PRKCG):c.475G>A (p.Gly159Arg) rs866406014
NM_002739.5(PRKCG):c.476G>A (p.Gly159Glu) rs1599943390
NM_002739.5(PRKCG):c.479G>T (p.Arg160Leu) rs1555807032
NM_002739.5(PRKCG):c.495C>G (p.Ile165Met) rs1252158483
NM_002739.5(PRKCG):c.68G>A (p.Gly23Glu) rs1599937005
NM_002739.5(PRKCG):c.707T>C (p.Val236Ala) rs1599945617
NM_002739.5(PRKCG):c.70_72delinsCCT (p.Ala24Pro)
NM_002739.5(PRKCG):c.713G>A (p.Arg238His)
NM_002739.5(PRKCG):c.811G>A (p.Val271Met) rs375466358
NM_002739.5(PRKCG):c.866C>T (p.Pro289Leu) rs376704133
NM_002739.5(PRKCG):c.881A>T (p.Asp294Val)
NM_002739.5(PRKCG):c.8G>A (p.Gly3Asp)
NM_002739.5(PRKCG):c.99C>G (p.Val33=)
NM_002775.5(HTRA1):c.1048G>A (p.Gly350Arg) rs2133450808
NM_002775.5(HTRA1):c.20C>G (p.Ala7Gly)
NM_002775.5(HTRA1):c.31CTG[7] (p.Leu16dup) rs746547640
NM_002775.5(HTRA1):c.517G>T (p.Ala173Ser) rs781563777
NM_002775.5(HTRA1):c.523G>A (p.Val175Met) rs768665565
NM_002775.5(HTRA1):c.529_531del (p.Glu177del) rs2097494420
NM_002775.5(HTRA1):c.884G>A (p.Gly295Glu) rs769481765
NM_002775.5(HTRA1):c.8T>A (p.Ile3Asn)
NM_002775.5(HTRA1):c.940A>G (p.Met314Val)
NM_003000.3(SDHB):c.659T>C (p.Ile220Thr) rs878854578
NM_003042.4(SLC6A1):c.332G>A (p.Gly111Glu) rs1574892457
NM_003119.4(SPG7):c.1004T>G (p.Leu335Arg)
NM_003119.4(SPG7):c.1033G>C (p.Ala345Pro) rs368373840
NM_003119.4(SPG7):c.1248G>A (p.Lys416=)
NM_003119.4(SPG7):c.1315G>A (p.Glu439Lys)
NM_003119.4(SPG7):c.152A>T (p.Asp51Val) rs1161739922
NM_003119.4(SPG7):c.167G>A (p.Gly56Glu) rs11559074
NM_003119.4(SPG7):c.1904C>T (p.Ser635Leu) rs864622507
NM_003119.4(SPG7):c.1931C>T (p.Thr644Ile) rs758702550
NM_003119.4(SPG7):c.2014G>C (p.Gly672Arg) rs369503365
NM_003119.4(SPG7):c.2026T>C (p.Phe676Leu) rs72547553
NM_003119.4(SPG7):c.2065C>T (p.Arg689Cys)
NM_003119.4(SPG7):c.2183T>G (p.Leu728Arg) rs1597668583
NM_003119.4(SPG7):c.2379G>T (p.Trp793Cys)
NM_003119.4(SPG7):c.619-3C>G rs199740629
NM_003119.4(SPG7):c.862-8C>A rs754296518
NM_003119.4(SPG7):c.920_925del (p.Ser307_Phe308del)
NM_003361.4(UMOD):c.116C>A (p.Ala39Asp) rs762973149
NM_003361.4(UMOD):c.533G>C (p.Arg178Pro) rs1228791562
NM_003361.4(UMOD):c.611G>C (p.Arg204Pro)
NM_003482.4(KMT2D):c.559C>T (p.Pro187Ser) rs773077415
NM_003482.4(KMT2D):c.9837GCA[5] (p.Gln3282dup) rs758215754
NM_003560.4(PLA2G6):c.1877C>T (p.Ser626Leu) rs775354024
NM_003560.4(PLA2G6):c.343C>T (p.Arg115Cys) rs995653548
NM_003588.4(CUL4B):c.13T>G (p.Ser5Ala) rs764061992
NM_003673.4(TCAP):c.472C>A (p.Arg158Ser) rs397516863
NM_003673.4(TCAP):c.50G>C (p.Arg17Pro) rs750796201
NM_003680.4(YARS1):c.1094del (p.Pro365fs) rs1413975578
NM_003680.4(YARS1):c.347A>G (p.Lys116Arg) rs148823175
NM_003680.4(YARS1):c.510+2_510+10del
NM_003680.4(YARS1):c.732dup (p.Leu245fs)
NM_003680.4(YARS1):c.913C>T (p.His305Tyr) rs1557447426
NM_003793.4(CTSF):c.952C>T (p.Leu318Phe) rs1219372597
NM_003850.3(SUCLA2):c.664C>T (p.Leu222Phe)
NM_003850.3(SUCLA2):c.68C>G (p.Thr23Arg) rs538760468
NM_003900.5(SQSTM1):c.1030A>C (p.Lys344Gln) rs1554091448
NM_003900.5(SQSTM1):c.302-4G>A rs1757883398
NM_003900.5(SQSTM1):c.46G>A (p.Ala16Thr) rs773552098
NM_003900.5(SQSTM1):c.998GAG[1] (p.Gly334del) rs778047147
NM_003907.3(EIF2B5):c.386G>A (p.Arg129Gln)
NM_003919.3(SGCE):c.185T>C (p.Leu62Ser)
NM_003919.3(SGCE):c.335G>A (p.Gly112Glu) rs2116959049
NM_003919.3(SGCE):c.386T>A (p.Ile129Asn) rs1554358639
NM_004004.6(GJB2):c.-165del
NM_004004.6(GJB2):c.-169C>G
NM_004004.6(GJB2):c.-16C>T rs759745271
NM_004004.6(GJB2):c.-173G>C rs1016014284
NM_004004.6(GJB2):c.100A>T (p.Met34Leu) rs564084861
NM_004004.6(GJB2):c.275C>T (p.Ala92Val) rs1959060006
NM_004004.6(GJB2):c.380G>T (p.Arg127Leu) rs111033196
NM_004004.6(GJB2):c.53C>G (p.Thr18Ser) rs1566529035
NM_004004.6(GJB2):c.9G>T (p.Trp3Cys) rs111033401
NM_004006.2(DMD):c.-240G>T
NM_004006.3(DMD):c.-123T>C rs760595740
NM_004006.3(DMD):c.10432A>G (p.Ser3478Gly)
NM_004006.3(DMD):c.1309G>A (p.Ala437Thr) rs748964279
NM_004006.3(DMD):c.1360A>C (p.Asn454His)
NM_004006.3(DMD):c.139G>T (p.Gly47Trp) rs1557084183
NM_004006.3(DMD):c.2176G>T (p.Val726Phe) rs886044365
NM_004006.3(DMD):c.3603+2_3603+3insTA rs1603633860
NM_004006.3(DMD):c.4409G>A (p.Arg1470His) rs752129019
NM_004006.3(DMD):c.493G>T (p.Asp165Tyr) rs1569528100
NM_004006.3(DMD):c.5679G>A (p.Leu1893=)
NM_004006.3(DMD):c.5909A>G (p.Asn1970Ser) rs951731570
NM_004006.3(DMD):c.5995A>G (p.Thr1999Ala)
NM_004006.3(DMD):c.6196G>T (p.Ala2066Ser) rs1468473458
NM_004006.3(DMD):c.6762G>C (p.Lys2254Asn) rs1569516110
NM_004006.3(DMD):c.8279A>G (p.Gln2760Arg)
NM_004006.3(DMD):c.881C>T (p.Pro294Leu) rs2063777083
NM_004006.3(DMD):c.9352G>T (p.Ala3118Ser) rs200928985
NM_004006.3(DMD):c.941G>T (p.Arg314Leu) rs751164104
NM_004006.3(DMD):c.9477C>A (p.Asp3159Glu)
NM_004006.3(DMD):c.9974G>C (p.Arg3325Thr) rs398124109
NM_004082.5(DCTN1):c.1504C>T (p.Arg502Cys) rs145958900
NM_004082.5(DCTN1):c.279+1G>A rs1393363759
NM_004082.5(DCTN1):c.279+1G>C rs1393363759
NM_004082.5(DCTN1):c.279+1G>T rs1393363759
NM_004082.5(DCTN1):c.3260del (p.Val1087fs) rs2104397699
NM_004082.5(DCTN1):c.3568G>A (p.Ala1190Thr) rs1251814285
NM_004092.4(ECHS1):c.412G>A (p.Ala138Thr)
NM_004115.4(FGF14):c.126C>T (p.Gly42=)
NM_004115.4(FGF14):c.154C>T (p.Arg52Cys)
NM_004115.4(FGF14):c.304+5G>A
NM_004115.4(FGF14):c.369G>C (p.Leu123Phe) rs746040831
NM_004172.5(SLC1A3):c.1279A>G (p.Ile427Val)
NM_004172.5(SLC1A3):c.1435C>T (p.Arg479Trp) rs1561288563
NM_004172.5(SLC1A3):c.1453C>G (p.Leu485Val)
NM_004172.5(SLC1A3):c.206G>A (p.Arg69Gln)
NM_004172.5(SLC1A3):c.258A>G (p.Glu86=) rs965914540
NM_004172.5(SLC1A3):c.322A>G (p.Met108Val)
NM_004172.5(SLC1A3):c.363G>T (p.Met121Ile)
NM_004172.5(SLC1A3):c.459A>T (p.Glu153Asp)
NM_004172.5(SLC1A3):c.546G>A (p.Leu182=) rs1742104449
NM_004172.5(SLC1A3):c.593G>A (p.Ser198Asn)
NM_004172.5(SLC1A3):c.693G>A (p.Leu231=)
NM_004172.5(SLC1A3):c.922G>A (p.Gly308Ser) rs1290342061
NM_004320.6(ATP2A1):c.1288-5C>G
NM_004320.6(ATP2A1):c.1961C>A (p.Thr654Lys) rs148957878
NM_004320.6(ATP2A1):c.352G>C (p.Ala118Pro)
NM_004320.6(ATP2A1):c.472A>G (p.Lys158Glu) rs956847228
NM_004369.4(COL6A3):c.4510C>T (p.Arg1504Trp) rs144223596
NM_004369.4(COL6A3):c.5067C>A (p.Asp1689Glu) rs370475865
NM_004369.4(COL6A3):c.6801T>C (p.Gly2267=) rs2077197822
NM_004380.3(CREBBP):c.6572A>G (p.Glu2191Gly)
NM_004387.4(NKX2-5):c.524T>C (p.Leu175Pro) rs1761356915
NM_004393.6(DAG1):c.1166G>A (p.Arg389Gln) rs764205302
NM_004393.6(DAG1):c.1729A>G (p.Met577Val)
NM_004393.6(DAG1):c.1925G>A (p.Cys642Tyr) rs1559580460
NM_004393.6(DAG1):c.1955G>T (p.Arg652Leu) rs368810294
NM_004393.6(DAG1):c.212C>A (p.Thr71Lys) rs142572135
NM_004393.6(DAG1):c.532G>T (p.Val178Leu) rs1217933283
NM_004393.6(DAG1):c.838C>T (p.Pro280Ser) rs908394465
NM_004463.3(FGD1):c.2563A>G (p.Ile855Val) rs1569540956
NM_004484.4(GPC3):c.62C>G (p.Pro21Arg) rs745984441
NM_004562.3(PRKN):c.1309C>G (p.Pro437Ala)
NM_004621.6(TRPC6):c.186C>T (p.Asn62=) rs1341607254
NM_004621.6(TRPC6):c.2484+1G>C
NM_004621.6(TRPC6):c.2678G>T (p.Ser893Ile) rs1591517921
NM_004637.6(RAB7A):c.391A>G (p.Asn131Asp) rs1933807332
NM_004637.6(RAB7A):c.466G>A (p.Ala156Thr) rs1576304176
NM_004637.6(RAB7A):c.605C>T (p.Ala202Val)
NM_004646.4(NPHS1):c.212T>C (p.Leu71Pro) rs1568457698
NM_004646.4(NPHS1):c.2159A>C (p.His720Pro) rs760911714
NM_004646.4(NPHS1):c.2446T>C (p.Cys816Arg) rs1568453333
NM_004646.4(NPHS1):c.3024A>G (p.Arg1008=) rs1131691606
NM_004733.4(SLC33A1):c.1069A>G (p.Ile357Val) rs769178808
NM_004817.4(TJP2):c.1290_1292del (p.Ser432del) rs780493380
NM_004820.5(CYP7B1):c.59C>A (p.Pro20Gln)
NM_004820.5(CYP7B1):c.59C>T (p.Pro20Leu) rs537303950
NM_004820.5(CYP7B1):c.835G>T (p.Asp279Tyr) rs766759427
NM_004820.5(CYP7B1):c.869T>C (p.Leu290Pro)
NM_004820.5(CYP7B1):c.89T>G (p.Leu30Arg)
NM_004960.4(FUS):c.1527C>T (p.Gly509=) rs2079350695
NM_004977.3(KCNC3):c.1041C>G (p.Phe347Leu) rs2037069670
NM_004977.3(KCNC3):c.1153G>A (p.Asp385Asn)
NM_004977.3(KCNC3):c.1198G>T (p.Gly400Cys)
NM_004977.3(KCNC3):c.1229T>C (p.Leu410Pro) rs1601098675
NM_004977.3(KCNC3):c.1354A>G (p.Ile452Val)
NM_004977.3(KCNC3):c.1474A>G (p.Ile492Val)
NM_004977.3(KCNC3):c.1609G>A (p.Val537Ile)
NM_004977.3(KCNC3):c.1685A>G (p.His562Arg)
NM_004977.3(KCNC3):c.1737ACCCCCGCC[1] (p.Pro583_Pro585del) rs747618525
NM_004977.3(KCNC3):c.1747C>T (p.Pro583Ser)
NM_004977.3(KCNC3):c.1794A>G (p.Pro598=) rs2123533646
NM_004977.3(KCNC3):c.1795C>G (p.Pro599Ala)
NM_004977.3(KCNC3):c.1883C>T (p.Ala628Val)
NM_004984.4(KIF5A):c.1362+7G>A rs1349376862
NM_004984.4(KIF5A):c.1429A>G (p.Asn477Asp) rs1882274569
NM_004984.4(KIF5A):c.1480C>T (p.Leu494=)
NM_004984.4(KIF5A):c.2656G>T (p.Ala886Ser) rs1017745641
NM_004984.4(KIF5A):c.586A>G (p.Thr196Ala) rs1565697675
NM_004984.4(KIF5A):c.590-3C>T rs1882102799
NM_004999.4(MYO6):c.3177-3C>T rs747051401
NM_005022.4(PFN1):c.350_351delinsGT (p.Glu117Gly) rs1597686012
NM_005045.4(RELN):c.1361T>C (p.Leu454Pro) rs1833139042
NM_005045.4(RELN):c.5021A>G (p.Lys1674Arg)
NM_005045.4(RELN):c.6385G>A (p.Gly2129Ser) rs1228682428
NM_005051.3(QARS1):c.1658T>A (p.Leu553Gln) rs1559966841
NM_005120.3(MED12):c.2266G>A (p.Val756Ile)
NM_005159.5(ACTC1):c.590A>G (p.Glu197Gly)
NM_005219.5(DIAPH1):c.3590G>A (p.Gly1197Asp) rs1354335913
NM_005221.6(DLX5):c.513C>T (p.Ala171=) rs780878673
NM_005327.7(HADH):c.340G>T (p.Asp114Tyr)
NM_005413.4(SIX3):c.658C>G (p.Leu220Val)
NM_005422.4(TECTA):c.5929C>T (p.Leu1977Phe) rs1591464632
NM_005476.7(GNE):c.1670T>C (p.Ile557Thr) rs886043979
NM_005476.7(GNE):c.982+3del rs1587313110
NM_005477.3(HCN4):c.529G>T (p.Ala177Ser) rs1567801731
NM_005529.7(HSPG2):c.10151-4G>A
NM_005529.7(HSPG2):c.10193C>G (p.Ser3398Cys)
NM_005529.7(HSPG2):c.10292T>C (p.Leu3431Pro)
NM_005529.7(HSPG2):c.10336G>T (p.Val3446Leu) rs573946760
NM_005529.7(HSPG2):c.10469T>C (p.Leu3490Pro) rs1557683886
NM_005529.7(HSPG2):c.11287C>A (p.Leu3763Met)
NM_005529.7(HSPG2):c.11546G>A (p.Arg3849Gln) rs144525987
NM_005529.7(HSPG2):c.11863G>T (p.Val3955Leu) rs145155624
NM_005529.7(HSPG2):c.1187A>C (p.Asp396Ala)
NM_005529.7(HSPG2):c.11982G>T (p.Glu3994Asp)
NM_005529.7(HSPG2):c.12328C>T (p.Arg4110Cys) rs766333633
NM_005529.7(HSPG2):c.12409+10C>A rs1557670210
NM_005529.7(HSPG2):c.12521G>A (p.Arg4174His)
NM_005529.7(HSPG2):c.13159C>A (p.Arg4387Ser) rs767431377
NM_005529.7(HSPG2):c.1720G>A (p.Asp574Asn)
NM_005529.7(HSPG2):c.1818+9C>T rs901499998
NM_005529.7(HSPG2):c.1843C>T (p.Arg615Cys) rs1464145632
NM_005529.7(HSPG2):c.2339G>A (p.Cys780Tyr)
NM_005529.7(HSPG2):c.2614G>T (p.Val872Phe) rs370645398
NM_005529.7(HSPG2):c.2879G>T (p.Ser960Ile) rs768568677
NM_005529.7(HSPG2):c.3035C>T (p.Thr1012Ile) rs1557765051
NM_005529.7(HSPG2):c.3846C>G (p.Ser1282Arg) rs747787010
NM_005529.7(HSPG2):c.4184T>C (p.Phe1395Ser) rs868076162
NM_005529.7(HSPG2):c.4471C>A (p.Leu1491Ile) rs1572277794
NM_005529.7(HSPG2):c.4672G>A (p.Gly1558Ser)
NM_005529.7(HSPG2):c.4905G>A (p.Gly1635=) rs1557737957
NM_005529.7(HSPG2):c.5854+5G>A
NM_005529.7(HSPG2):c.5925G>A (p.Leu1975=)
NM_005529.7(HSPG2):c.6134-4C>T
NM_005529.7(HSPG2):c.653G>A (p.Arg218His) rs560206345
NM_005529.7(HSPG2):c.6871-7T>C
NM_005529.7(HSPG2):c.7104C>A (p.Ser2368=) rs1557715997
NM_005529.7(HSPG2):c.7210_7233del (p.Glu2404_Gly2411del) rs761662063
NM_005529.7(HSPG2):c.7276C>T (p.Pro2426Ser) rs1449593780
NM_005529.7(HSPG2):c.750GAC[1] (p.Thr252del)
NM_005529.7(HSPG2):c.770G>A (p.Arg257Gln) rs149319607
NM_005529.7(HSPG2):c.8077G>A (p.Glu2693Lys)
NM_005529.7(HSPG2):c.835_836delinsAG (p.Ser279=) rs2152762782
NM_005529.7(HSPG2):c.8500TCC[2] (p.Ser2836del)
NM_005529.7(HSPG2):c.8545G>A (p.Val2849Met) rs147114700
NM_005529.7(HSPG2):c.9364G>A (p.Val3122Met)
NM_005529.7(HSPG2):c.9503C>G (p.Ala3168Gly)
NM_005529.7(HSPG2):c.9709+3G>A
NM_005529.7(HSPG2):c.9821G>A (p.Gly3274Asp)
NM_005572.4(LMNA):c.1711C>T (p.Arg571Cys) rs80338938
NM_005591.4(MRE11):c.1007G>A (p.Cys336Tyr) rs1228681022
NM_005591.4(MRE11):c.1185T>C (p.Ile395=) rs1001831519
NM_005591.4(MRE11):c.1269A>C (p.Glu423Asp)
NM_005591.4(MRE11):c.1270G>A (p.Gly424Arg) rs2135000168
NM_005591.4(MRE11):c.1526A>C (p.Gln509Pro) rs1591667851
NM_005591.4(MRE11):c.1559G>C (p.Arg520Pro) rs753148077
NM_005591.4(MRE11):c.1669G>A (p.Asp557Asn) rs1591655152
NM_005591.4(MRE11):c.1724G>T (p.Gly575Val) rs376555330
NM_005591.4(MRE11):c.1811G>A (p.Arg604His) rs148637964
NM_005591.4(MRE11):c.1904T>G (p.Val635Gly) rs780850078
NM_005591.4(MRE11):c.2071GAT[6] (p.Asp695dup) rs779409748
NM_005591.4(MRE11):c.391G>T (p.Asp131Tyr) rs368403414
NM_005592.4(MUSK):c.1445C>G (p.Ser482Cys)
NM_005592.4(MUSK):c.1763G>A (p.Arg588Lys)
NM_005619.5(RTN2):c.184C>G (p.Leu62Val)
NM_005619.5(RTN2):c.35-5C>G rs757800024
NM_005619.5(RTN2):c.455G>C (p.Arg152Pro)
NM_005619.5(RTN2):c.745G>A (p.Glu249Lys) rs761286207
NM_005629.4(SLC6A8):c.611_612delinsAC (p.Ala204Asp) rs1569539288
NM_005629.4(SLC6A8):c.945_949del (p.Phe315fs) rs1603216806
NM_005670.4(EPM2A):c.553G>C (p.Gly185Arg)
NM_005670.4(EPM2A):c.634A>G (p.Met212Val) rs1562424241
NM_005859.5(PURA):c.493G>C (p.Gly165Arg) rs1561793272
NM_005866.4(SIGMAR1):c.463G>A (p.Gly155Arg) rs200076129
NM_005881.4(BCKDK):c.38G>C (p.Gly13Ala) rs748666025
NM_005881.4(BCKDK):c.513G>A (p.Glu171=) rs773378545
NM_005881.4(BCKDK):c.626C>T (p.Ala209Val)
NM_005912.3(MC4R):c.495G>A (p.Arg165=) rs868660454
NM_006005.3(WFS1):c.1162C>G (p.Leu388Val) rs1578609065
NM_006015.6(ARID1A):c.2096C>G (p.Pro699Arg)
NM_006030.4(CACNA2D2):c.1525A>G (p.Thr509Ala) rs1559888092
NM_006030.4(CACNA2D2):c.3307T>A (p.Cys1103Ser) rs1575577385
NM_006096.4(NDRG1):c.-18-8C>G
NM_006096.4(NDRG1):c.1053_1082del (p.340TRSRSHTSEG[2]) rs751274009
NM_006096.4(NDRG1):c.773T>C (p.Val258Ala)
NM_006096.4(NDRG1):c.77T>C (p.Leu26Pro)
NM_006096.4(NDRG1):c.816C>G (p.Cys272Trp)
NM_006096.4(NDRG1):c.891+3G>C
NM_006158.5(NEFL):c.1196G>C (p.Arg399Pro) rs372997416
NM_006158.5(NEFL):c.1373T>C (p.Ile458Thr) rs372034119
NM_006158.5(NEFL):c.1554G>C (p.Glu518Asp) rs754666321
NM_006158.5(NEFL):c.398C>T (p.Ser133Phe)
NM_006158.5(NEFL):c.460A>C (p.Thr154Pro) rs1803048937
NM_006158.5(NEFL):c.507G>C (p.Glu169Asp)
NM_006158.5(NEFL):c.604G>A (p.Ala202Thr)
NM_006158.5(NEFL):c.66C>T (p.Pro22=)
NM_006158.5(NEFL):c.882C>G (p.Asn294Lys) rs946938553
NM_006306.4(SMC1A):c.1289A>T (p.Glu430Val) rs2075703102
NM_006415.4(SPTLC1):c.687A>G (p.Gln229=) rs1564092714
NM_006420.2(ARFGEF2):c.1062_1067del rs1555810077
NM_006420.3(ARFGEF2):c.2101G>A (p.Ala701Thr) rs201298117
NM_006420.3(ARFGEF2):c.4624+6G>T rs768990826
NM_006516.4(SLC2A1):c.630T>A (p.Ser210Arg) rs2124449313
NM_006790.3(MYOT):c.563G>T (p.Arg188Ile) rs370165036
NM_006790.3(MYOT):c.721G>T (p.Asp241Tyr)
NM_006796.3(AFG3L2):c.1013C>T (p.Ala338Val) rs2143191701
NM_006796.3(AFG3L2):c.1040C>G (p.Thr347Ser) rs1191222406
NM_006796.3(AFG3L2):c.113C>A (p.Thr38Lys) rs1285632115
NM_006796.3(AFG3L2):c.1177T>C (p.Phe393Leu)
NM_006796.3(AFG3L2):c.1328CAA[2] (p.Thr445del) rs749105981
NM_006796.3(AFG3L2):c.1339GTC[1] (p.Val448del) rs773169376
NM_006796.3(AFG3L2):c.1386G>A (p.Ala462=)
NM_006796.3(AFG3L2):c.1512A>G (p.Lys504=)
NM_006796.3(AFG3L2):c.1742C>G (p.Ala581Gly)
NM_006796.3(AFG3L2):c.1780-4C>T rs1477129589
NM_006796.3(AFG3L2):c.1981-3C>A rs1487683840
NM_006796.3(AFG3L2):c.2060A>C (p.Lys687Thr)
NM_006796.3(AFG3L2):c.2062C>G (p.Pro688Ala) rs797045221
NM_006796.3(AFG3L2):c.2063C>T (p.Pro688Leu) rs2143111468
NM_006796.3(AFG3L2):c.2069G>A (p.Ser690Asn) rs1568133901
NM_006796.3(AFG3L2):c.2092G>T (p.Asp698Tyr) rs1598820833
NM_006796.3(AFG3L2):c.2114T>C (p.Ile705Thr) rs1598820805
NM_006796.3(AFG3L2):c.2295C>T (p.Ser765=)
NM_006796.3(AFG3L2):c.2314C>A (p.Leu772Ile) rs117182113
NM_006796.3(AFG3L2):c.2327T>C (p.Leu776Pro) rs1568130466
NM_006796.3(AFG3L2):c.2350G>A (p.Glu784Lys)
NM_006796.3(AFG3L2):c.463G>A (p.Gly155Ser) rs863223888
NM_006796.3(AFG3L2):c.863T>C (p.Leu288Pro) rs1598833620
NM_006796.3(AFG3L2):c.867C>T (p.Phe289=)
NM_006859.4(LIAS):c.394-5T>C
NM_006859.4(LIAS):c.433T>A (p.Ser145Thr) rs1196830198
NM_006876.3(B4GAT1):c.704G>A (p.Gly235Glu) rs1266269787
NM_006883.2(SHOX):c.*12T>C rs1569497023
NM_006883.2(SHOX):c.*16A>G rs1270583348
NM_006883.2(SHOX):c.*5G>A
NM_006883.2(SHOX):c.635T>C (p.Met212Thr)
NM_006883.2(SHOX):c.652C>T (p.Arg218Cys)
NM_006883.2(SHOX):c.655C>T (p.Pro219Ser)
NM_006922.4(SCN3A):c.4983G>C (p.Leu1661=) rs1018125027
NM_006941.4(SOX10):c.191A>T (p.Asp64Val) rs372400283
NM_006946.4(SPTBN2):c.1044C>T (p.Asn348=)
NM_006946.4(SPTBN2):c.1295G>A (p.Arg432His)
NM_006946.4(SPTBN2):c.1877T>C (p.Leu626Pro) rs1554984881
NM_006946.4(SPTBN2):c.1903G>A (p.Ala635Thr)
NM_006946.4(SPTBN2):c.2023G>C (p.Gly675Arg) rs776861052
NM_006946.4(SPTBN2):c.2194C>A (p.Leu732Ile)
NM_006946.4(SPTBN2):c.2237C>T (p.Ala746Val)
NM_006946.4(SPTBN2):c.2272G>T (p.Asp758Tyr) rs894025675
NM_006946.4(SPTBN2):c.2527G>A (p.Glu843Lys)
NM_006946.4(SPTBN2):c.2537G>A (p.Arg846Gln) rs1428439827
NM_006946.4(SPTBN2):c.2620T>C (p.Trp874Arg)
NM_006946.4(SPTBN2):c.265C>T (p.Arg89Cys) rs1565151375
NM_006946.4(SPTBN2):c.2702T>C (p.Met901Thr)
NM_006946.4(SPTBN2):c.2779G>T (p.Asp927Tyr) rs766125112
NM_006946.4(SPTBN2):c.2807T>C (p.Leu936Pro) rs2135418994
NM_006946.4(SPTBN2):c.2951C>A (p.Thr984Asn) rs1941221838
NM_006946.4(SPTBN2):c.2955G>A (p.Gln985=) rs1941221540
NM_006946.4(SPTBN2):c.310-3C>T rs1942089988
NM_006946.4(SPTBN2):c.3150C>T (p.Leu1050=)
NM_006946.4(SPTBN2):c.3166C>T (p.Arg1056Cys)
NM_006946.4(SPTBN2):c.3332G>C (p.Arg1111Pro) rs763945497
NM_006946.4(SPTBN2):c.3423C>G (p.Leu1141=) rs1941187600
NM_006946.4(SPTBN2):c.3494A>G (p.Gln1165Arg)
NM_006946.4(SPTBN2):c.3731T>G (p.Ile1244Ser) rs1565126661
NM_006946.4(SPTBN2):c.4014+7A>G
NM_006946.4(SPTBN2):c.4015-7C>T
NM_006946.4(SPTBN2):c.4070A>G (p.Lys1357Arg)
NM_006946.4(SPTBN2):c.4279-10C>T
NM_006946.4(SPTBN2):c.4514C>T (p.Thr1505Ile)
NM_006946.4(SPTBN2):c.4558C>G (p.Leu1520Val) rs767617743
NM_006946.4(SPTBN2):c.4907C>T (p.Ala1636Val) rs1484351160
NM_006946.4(SPTBN2):c.5042A>G (p.Glu1681Gly) rs756510588
NM_006946.4(SPTBN2):c.5057G>A (p.Arg1686Gln)
NM_006946.4(SPTBN2):c.5190+6T>C
NM_006946.4(SPTBN2):c.5356C>G (p.Leu1786Val)
NM_006946.4(SPTBN2):c.5378G>A (p.Arg1793Gln)
NM_006946.4(SPTBN2):c.5414G>A (p.Arg1805His) rs1222870637
NM_006946.4(SPTBN2):c.5432G>A (p.Arg1811His)
NM_006946.4(SPTBN2):c.5565+5G>C
NM_006946.4(SPTBN2):c.5659G>A (p.Glu1887Lys)
NM_006946.4(SPTBN2):c.5681G>A (p.Gly1894Glu) rs148293687
NM_006946.4(SPTBN2):c.5811-3dup
NM_006946.4(SPTBN2):c.5906T>C (p.Met1969Thr)
NM_006946.4(SPTBN2):c.611G>C (p.Ser204Thr)
NM_006946.4(SPTBN2):c.6182CAG[1] (p.Ala2062del)
NM_006946.4(SPTBN2):c.6231+3del
NM_006946.4(SPTBN2):c.6263A>G (p.Lys2088Arg)
NM_006946.4(SPTBN2):c.6284G>A (p.Arg2095Gln)
NM_006946.4(SPTBN2):c.6502-5C>A
NM_006946.4(SPTBN2):c.6567G>A (p.Pro2189=)
NM_006946.4(SPTBN2):c.6601G>A (p.Glu2201Lys) rs1256781556
NM_006946.4(SPTBN2):c.6650C>T (p.Ala2217Val)
NM_006946.4(SPTBN2):c.6657G>A (p.Glu2219=)
NM_006946.4(SPTBN2):c.6680G>A (p.Arg2227His)
NM_006946.4(SPTBN2):c.6868C>T (p.Arg2290Ter)
NM_006946.4(SPTBN2):c.6897-6C>A
NM_006946.4(SPTBN2):c.753C>A (p.Thr251=)
NM_006946.4(SPTBN2):c.794A>G (p.Asp265Gly) rs1941830514
NM_006946.4(SPTBN2):c.794A>T (p.Asp265Val) rs1941830514
NM_006950.3(SYN1):c.1322C>A (p.Ala441Asp) rs1569322817
NM_007126.5(VCP):c.478G>C (p.Ala160Pro) rs1554668805
NM_007254.4(PNKP):c.1360C>A (p.Leu454Met) rs200611702
NM_007262.5(PARK7):c.317G>A (p.Cys106Tyr)
NM_007262.5(PARK7):c.505G>T (p.Val169Phe) rs2124006611
NM_007325.5(GRIA3):c.1878-3T>C
NM_007325.5(GRIA3):c.2552G>A (p.Arg851Gln) rs1395100721
NM_007327.4(GRIN1):c.1848C>G (p.Asn616Lys)
NM_007375.4(TARDBP):c.1121A>T (p.Tyr374Phe) rs1643661597
NM_007375.4(TARDBP):c.1150G>C (p.Gly384Arg) rs797044594
NM_007375.4(TARDBP):c.1173delinsCAATGCG (p.Ala391_Gly392insAsnAla)
NM_007375.4(TARDBP):c.883G>C (p.Gly295Arg) rs80356723
NM_007375.4(TARDBP):c.892G>T (p.Gly298Cys) rs4884357
NM_012210.4(TRIM32):c.164G>T (p.Ser55Ile) rs1564215128
NM_012210.4(TRIM32):c.1710G>A (p.Ser570=) rs555217187
NM_012232.6(CAVIN1):c.405C>G (p.Ile135Met)
NM_012233.3(RAB3GAP1):c.18+4A>G rs550325115
NM_012233.3(RAB3GAP1):c.372A>G (p.Leu124=) rs886054850
NM_012233.3(RAB3GAP1):c.722A>G (p.Gln241Arg)
NM_012301.4(MAGI2):c.1738G>C (p.Gly580Arg) rs373777210
NM_012301.4(MAGI2):c.2723C>G (p.Pro908Arg) rs150080418
NM_012463.4(ATP6V0A2):c.516A>G (p.Lys172=)
NM_013275.6(ANKRD11):c.149A>T (p.Glu50Val) rs1567614253
NM_013275.6(ANKRD11):c.6159G>C (p.Ala2053=) rs368315956
NM_013296.5(GPSM2):c.1472G>C (p.Gly491Ala) rs147906282
NM_013296.5(GPSM2):c.1571C>T (p.Ser524Phe) rs1650792784
NM_013382.7(POMT2):c.1006+10T>C
NM_013382.7(POMT2):c.124C>G (p.Pro42Ala) rs1350511523
NM_013382.7(POMT2):c.1726-8T>C
NM_013382.7(POMT2):c.620T>C (p.Met207Thr) rs1326409250
NM_013444.3(UBQLN2):c.1581_1584delinsG (p.Thr528del) rs1569254580
NM_013444.4(UBQLN2):c.1145T>A (p.Leu382Gln) rs1569254361
NM_013444.4(UBQLN2):c.1499C>A (p.Pro500His) rs2068636097
NM_014043.4(CHMP2B):c.328C>A (p.Gln110Lys) rs1559610428
NM_014053.4(FLVCR1):c.1015A>T (p.Ile339Phe) rs1558113016
NM_014053.4(FLVCR1):c.1281C>A (p.Ile427=)
NM_014053.4(FLVCR1):c.1406C>G (p.Ser469Cys) rs1203409620
NM_014053.4(FLVCR1):c.143C>T (p.Pro48Leu) rs762104775
NM_014053.4(FLVCR1):c.1459G>C (p.Asp487His)
NM_014053.4(FLVCR1):c.391A>G (p.Ile131Val) rs1558104917
NM_014053.4(FLVCR1):c.555C>T (p.Cys185=)
NM_014053.4(FLVCR1):c.573G>A (p.Lys191=)
NM_014053.4(FLVCR1):c.585GCA[2] (p.Gln197del)
NM_014053.4(FLVCR1):c.799A>G (p.Thr267Ala) rs1558107949
NM_014053.4(FLVCR1):c.819T>C (p.Asn273=) rs1558107967
NM_014053.4(FLVCR1):c.839G>A (p.Gly280Glu)
NM_014053.4(FLVCR1):c.853G>T (p.Ala285Ser)
NM_014053.4(FLVCR1):c.88C>T (p.Pro30Ser)
NM_014141.6(CNTNAP2):c.2440A>G (p.Thr814Ala) rs1060503571
NM_014141.6(CNTNAP2):c.3555C>G (p.Asn1185Lys) rs369699763
NM_014141.6(CNTNAP2):c.638C>T (p.Ala213Val) rs1563079216
NM_014159.7(SETD2):c.539C>T (p.Ser180Leu) rs1559750451
NM_014231.5(VAMP1):c.172A>G (p.Arg58Gly)
NM_014231.5(VAMP1):c.2+10C>T
NM_014231.5(VAMP1):c.338T>G (p.Val113Gly)
NM_014254.3(RXYLT1):c.1147TTTATC[1] (p.383FI[1]) rs767728184
NM_014363.6(SACS):c.10124G>C (p.Arg3375Thr) rs776727312
NM_014363.6(SACS):c.10158A>G (p.Ala3386=) rs775633710
NM_014363.6(SACS):c.10238A>G (p.Tyr3413Cys)
NM_014363.6(SACS):c.1028A>G (p.His343Arg)
NM_014363.6(SACS):c.10291G>A (p.Val3431Ile)
NM_014363.6(SACS):c.1061C>G (p.Thr354Ser) rs1425519295
NM_014363.6(SACS):c.1066A>G (p.Ile356Val) rs148286091
NM_014363.6(SACS):c.10765A>G (p.Ile3589Val)
NM_014363.6(SACS):c.10766T>C (p.Ile3589Thr)
NM_014363.6(SACS):c.11109C>T (p.Ser3703=) rs1883570677
NM_014363.6(SACS):c.11137C>A (p.Pro3713Thr)
NM_014363.6(SACS):c.11139C>G (p.Pro3713=)
NM_014363.6(SACS):c.11215G>A (p.Val3739Ile) rs1027336196
NM_014363.6(SACS):c.11296G>A (p.Val3766Ile)
NM_014363.6(SACS):c.11853A>G (p.Leu3951=) rs1883510768
NM_014363.6(SACS):c.11889G>A (p.Met3963Ile)
NM_014363.6(SACS):c.12182G>A (p.Gly4061Asp) rs1883488232
NM_014363.6(SACS):c.12533C>T (p.Pro4178Leu)
NM_014363.6(SACS):c.12618T>C (p.Ile4206=) rs1883457103
NM_014363.6(SACS):c.12818T>G (p.Leu4273Arg)
NM_014363.6(SACS):c.12932C>A (p.Thr4311Lys)
NM_014363.6(SACS):c.13038C>A (p.Asp4346Glu) rs2137552312
NM_014363.6(SACS):c.13244A>G (p.Gln4415Arg)
NM_014363.6(SACS):c.13316A>G (p.Lys4439Arg)
NM_014363.6(SACS):c.13520A>G (p.Gln4507Arg)
NM_014363.6(SACS):c.1354C>T (p.Pro452Ser)
NM_014363.6(SACS):c.13610G>A (p.Arg4537Lys)
NM_014363.6(SACS):c.1391T>G (p.Ile464Ser) rs1593144937
NM_014363.6(SACS):c.1485T>G (p.Phe495Leu)
NM_014363.6(SACS):c.1498G>A (p.Val500Ile) rs1244967438
NM_014363.6(SACS):c.1543C>T (p.Arg515Cys)
NM_014363.6(SACS):c.171+3A>G
NM_014363.6(SACS):c.1969G>T (p.Asp657Tyr) rs2137716974
NM_014363.6(SACS):c.2037CTC[1] (p.Ser682del) rs764516069
NM_014363.6(SACS):c.2096C>T (p.Ser699Phe) rs374680967
NM_014363.6(SACS):c.2180C>G (p.Thr727Ser)
NM_014363.6(SACS):c.2182C>G (p.Arg728Gly) rs752059006
NM_014363.6(SACS):c.2223A>T (p.Glu741Asp)
NM_014363.6(SACS):c.2428G>C (p.Glu810Gln)
NM_014363.6(SACS):c.2465T>G (p.Ile822Ser)
NM_014363.6(SACS):c.247T>C (p.Leu83=) rs1470292816
NM_014363.6(SACS):c.2562A>T (p.Lys854Asn)
NM_014363.6(SACS):c.2572T>G (p.Ser858Ala)
NM_014363.6(SACS):c.2594A>C (p.Lys865Thr)
NM_014363.6(SACS):c.2614_2619del (p.Leu872_Pro873del) rs771746381
NM_014363.6(SACS):c.2845G>C (p.Val949Leu) rs1869160064
NM_014363.6(SACS):c.2997T>A (p.Ile999=) rs1869142388
NM_014363.6(SACS):c.328_330delinsAGT (p.Gly110Ser)
NM_014363.6(SACS):c.3427C>G (p.Gln1143Glu)
NM_014363.6(SACS):c.3915T>C (p.His1305=) rs767598017
NM_014363.6(SACS):c.394T>G (p.Leu132Val)
NM_014363.6(SACS):c.4114C>G (p.Pro1372Ala) rs771277349
NM_014363.6(SACS):c.4496T>C (p.Met1499Thr)
NM_014363.6(SACS):c.4522A>C (p.Asn1508His) rs144653411
NM_014363.6(SACS):c.4538G>C (p.Gly1513Ala)
NM_014363.6(SACS):c.4546G>A (p.Ala1516Thr)
NM_014363.6(SACS):c.477C>T (p.Tyr159=) rs1870531490
NM_014363.6(SACS):c.4835G>C (p.Arg1612Thr)
NM_014363.6(SACS):c.4916A>G (p.Tyr1639Cys) rs1566068293
NM_014363.6(SACS):c.508C>T (p.His170Tyr)
NM_014363.6(SACS):c.5149_5151del (p.Lys1717del) rs754439135
NM_014363.6(SACS):c.5162C>T (p.Ser1721Phe)
NM_014363.6(SACS):c.5188A>C (p.Ser1730Arg)
NM_014363.6(SACS):c.5341C>T (p.Leu1781Phe)
NM_014363.6(SACS):c.5615G>C (p.Cys1872Ser)
NM_014363.6(SACS):c.5668T>C (p.Phe1890Leu)
NM_014363.6(SACS):c.5671G>C (p.Ala1891Pro) rs1868843160
NM_014363.6(SACS):c.5711C>G (p.Thr1904Arg) rs758570844
NM_014363.6(SACS):c.5849A>C (p.Asp1950Ala) rs375962720
NM_014363.6(SACS):c.5935T>G (p.Phe1979Val)
NM_014363.6(SACS):c.6149C>G (p.Thr2050Arg)
NM_014363.6(SACS):c.6179T>C (p.Val2060Ala)
NM_014363.6(SACS):c.6406A>T (p.Thr2136Ser) rs1566066009
NM_014363.6(SACS):c.6435G>C (p.Leu2145Phe) rs1593128652
NM_014363.6(SACS):c.6515A>C (p.Glu2172Ala) rs1566065814
NM_014363.6(SACS):c.6632A>G (p.Gln2211Arg) rs1044714793
NM_014363.6(SACS):c.6702T>A (p.Phe2234Leu) rs774487714
NM_014363.6(SACS):c.6730G>A (p.Asp2244Asn) rs1868692401
NM_014363.6(SACS):c.6751C>A (p.Gln2251Lys) rs747293426
NM_014363.6(SACS):c.6859A>C (p.Lys2287Gln) rs1397588851
NM_014363.6(SACS):c.6932A>G (p.Tyr2311Cys) rs1566065185
NM_014363.6(SACS):c.7210T>G (p.Leu2404Val) rs1593127760
NM_014363.6(SACS):c.7367C>T (p.Thr2456Ile)
NM_014363.6(SACS):c.744A>G (p.Ala248=) rs1448438600
NM_014363.6(SACS):c.751G>A (p.Val251Ile) rs776176699
NM_014363.6(SACS):c.7644G>C (p.Glu2548Asp) rs1868579030
NM_014363.6(SACS):c.7831A>G (p.Thr2611Ala)
NM_014363.6(SACS):c.7993C>T (p.Arg2665Cys)
NM_014363.6(SACS):c.8063C>A (p.Thr2688Asn)
NM_014363.6(SACS):c.8080A>T (p.Asn2694Tyr) rs1390533003
NM_014363.6(SACS):c.8330G>A (p.Arg2777Lys) rs1868501054
NM_014363.6(SACS):c.8426A>C (p.Glu2809Ala)
NM_014363.6(SACS):c.8454G>T (p.Trp2818Cys)
NM_014363.6(SACS):c.8795G>A (p.Arg2932Gln)
NM_014363.6(SACS):c.8819C>T (p.Thr2940Ile)
NM_014363.6(SACS):c.9245G>A (p.Cys3082Tyr)
NM_014363.6(SACS):c.9359G>T (p.Arg3120Leu) rs569955570
NM_014363.6(SACS):c.9519T>G (p.Phe3173Leu) rs780746393
NM_014363.6(SACS):c.9603G>C (p.Leu3201Phe)
NM_014363.6(SACS):c.9754A>G (p.Ser3252Gly) rs1593124621
NM_014363.6(SACS):c.9905T>C (p.Leu3302Pro) rs2137579752
NM_014365.3(HSPB8):c.138C>T (p.Ala46=)
NM_014365.3(HSPB8):c.175G>A (p.Ala59Thr)
NM_014365.3(HSPB8):c.229G>T (p.Ala77Ser) rs752044307
NM_014365.3(HSPB8):c.266dup (p.Pro90fs) rs773017653
NM_014625.4(NPHS2):c.1064A>G (p.Asn355Ser) rs1040479346
NM_014795.4(ZEB2):c.3469G>A (p.Asp1157Asn) rs1573707719
NM_014845.6(FIG4):c.1199A>G (p.Tyr400Cys) rs755232396
NM_014845.6(FIG4):c.1403G>A (p.Gly468Glu) rs1583699947
NM_014845.6(FIG4):c.1610A>C (p.His537Pro)
NM_014845.6(FIG4):c.1877C>T (p.Pro626Leu) rs772937400
NM_014845.6(FIG4):c.2460A>C (p.Arg820Ser) rs886060984
NM_014845.6(FIG4):c.2547-5T>G rs200267243
NM_014845.6(FIG4):c.295G>T (p.Val99Phe)
NM_014845.6(FIG4):c.744G>A (p.Leu248=) rs76125290
NM_014845.6(FIG4):c.848G>A (p.Arg283His) rs1562655830
NM_014846.4(WASHC5):c.-2dup
NM_014846.4(WASHC5):c.1859T>G (p.Val620Gly) rs2130089105
NM_014846.4(WASHC5):c.1882C>A (p.Gln628Lys) rs868134220
NM_014846.4(WASHC5):c.2391G>C (p.Trp797Cys)
NM_014855.3(AP5Z1):c.1618C>T (p.Leu540=) rs1781648313
NM_014855.3(AP5Z1):c.1795G>T (p.Gly599Cys) rs369917291
NM_014855.3(AP5Z1):c.2167C>T (p.Leu723=) rs2115130676
NM_014855.3(AP5Z1):c.37G>C (p.Ala13Pro) rs1262433596
NM_014855.3(AP5Z1):c.553C>T (p.Arg185Cys)
NM_014855.3(AP5Z1):c.838A>C (p.Thr280Pro) rs554060393
NM_014874.4(MFN2):c.107AGA[2] (p.Lys38del) rs1478175861
NM_014874.4(MFN2):c.1085C>G (p.Thr362Arg) rs387906991
NM_014874.4(MFN2):c.1127T>C (p.Met376Thr) rs1569854342
NM_014874.4(MFN2):c.1132T>C (p.Ser378Pro) rs1569854381
NM_014874.4(MFN2):c.1143GGC[1] (p.Ala383del) rs1553144065
NM_014874.4(MFN2):c.1144G>C (p.Ala382Pro) rs1553144066
NM_014874.4(MFN2):c.128T>G (p.Phe43Cys)
NM_014874.4(MFN2):c.1327_1328del (p.Val443fs) rs2100848845
NM_014874.4(MFN2):c.1579G>C (p.Asp527His) rs1569865413
NM_014874.4(MFN2):c.183C>T (p.Tyr61=) rs1638734576
NM_014874.4(MFN2):c.1A>G (p.Met1Val) rs1557515730
NM_014874.4(MFN2):c.2041G>A (p.Gly681Ser) rs2100858769
NM_014874.4(MFN2):c.2120G>A (p.Arg707Gln)
NM_014874.4(MFN2):c.2222T>C (p.Leu741Ser) rs1553146559
NM_014874.4(MFN2):c.2228G>A (p.Ser743Asn) rs1639696930
NM_014874.4(MFN2):c.239G>T (p.Gly80Val) rs139827903
NM_014874.4(MFN2):c.311G>T (p.Arg104Leu) rs863224068
NM_014874.4(MFN2):c.373G>A (p.Gly125Arg) rs1569829787
NM_014874.4(MFN2):c.467G>T (p.Ser156Ile) rs1557521949
NM_014874.4(MFN2):c.524C>T (p.Ala175Val)
NM_014874.4(MFN2):c.626T>G (p.Leu209Arg) rs1639043428
NM_014874.4(MFN2):c.657T>A (p.Asp219Glu)
NM_014874.4(MFN2):c.665T>C (p.Val222Ala) rs2100831825
NM_014874.4(MFN2):c.683A>C (p.Asn228Thr) rs1569842663
NM_014874.4(MFN2):c.711A>T (p.Glu237Asp) rs1557525000
NM_014874.4(MFN2):c.722_724dup (p.Phe241_His242insLeu) rs2100832392
NM_014918.5(CHSY1):c.1006C>T (p.Arg336Cys) rs1320280755
NM_014918.5(CHSY1):c.971T>C (p.Ile324Thr) rs1596419735
NM_014946.4(SPAST):c.1061T>G (p.Leu354Trp) rs1553315342
NM_014946.4(SPAST):c.1096G>A (p.Glu366Lys) rs1553315356
NM_014946.4(SPAST):c.1105A>C (p.Thr369Pro) rs1553316802
NM_014946.4(SPAST):c.1116A>C (p.Arg372Ser) rs1425976342
NM_014946.4(SPAST):c.1174G>C (p.Ala392Pro) rs1558331867
NM_014946.4(SPAST):c.1223C>T (p.Ala408Val) rs1553317043
NM_014946.4(SPAST):c.1247T>C (p.Val416Ala) rs1558336489
NM_014946.4(SPAST):c.1397T>C (p.Leu466Pro) rs1573156486
NM_014946.4(SPAST):c.1399A>G (p.Ile467Val) rs1573156509
NM_014946.4(SPAST):c.1409A>C (p.Asp470Ala) rs121908516
NM_014946.4(SPAST):c.1445T>C (p.Val482Ala) rs1417318347
NM_014946.4(SPAST):c.1494-5T>G rs1553319072
NM_014946.4(SPAST):c.1526C>T (p.Pro509Leu) rs1443578852
NM_014946.4(SPAST):c.1553T>C (p.Leu518Pro) rs1553319290
NM_014946.4(SPAST):c.1574A>G (p.Gln525Arg) rs2148759426
NM_014946.4(SPAST):c.1610T>G (p.Leu537Arg)
NM_014946.4(SPAST):c.1640G>A (p.Ser547Asn)
NM_014946.4(SPAST):c.1655T>C (p.Leu552Ser)
NM_014946.4(SPAST):c.1728G>A (p.Glu576=) rs1060502225
NM_014946.4(SPAST):c.1728G>T (p.Glu576Asp) rs1060502225
NM_014946.4(SPAST):c.1785C>A (p.Ser595Arg) rs145206063
NM_014946.4(SPAST):c.244T>C (p.Phe82Leu) rs1558605895
NM_014946.4(SPAST):c.301TCGGCC[1] (p.101SA[1])
NM_014946.4(SPAST):c.37T>A (p.Ser13Thr) rs781222498
NM_014946.4(SPAST):c.385A>G (p.Ile129Val) rs1362108129
NM_014946.4(SPAST):c.73C>T (p.Pro25Ser)
NM_014946.4(SPAST):c.845C>G (p.Ser282Cys)
NM_015046.7(SETX):c.*2A>G
NM_015046.7(SETX):c.1004C>G (p.Ser335Cys)
NM_015046.7(SETX):c.100G>A (p.Asp34Asn)
NM_015046.7(SETX):c.1273G>T (p.Gly425Cys) rs1428065074
NM_015046.7(SETX):c.1274G>C (p.Gly425Ala) rs1199659912
NM_015046.7(SETX):c.1285A>G (p.Ile429Val) rs747053403
NM_015046.7(SETX):c.1343A>C (p.Asp448Ala) rs370363342
NM_015046.7(SETX):c.1427_1432del (p.His476_Leu477del) rs777314512
NM_015046.7(SETX):c.1462G>A (p.Ala488Thr)
NM_015046.7(SETX):c.1771A>G (p.Ile591Val)
NM_015046.7(SETX):c.1837A>C (p.Lys613Gln)
NM_015046.7(SETX):c.241A>G (p.Ile81Val)
NM_015046.7(SETX):c.2660A>G (p.Gln887Arg) rs769138877
NM_015046.7(SETX):c.2698A>G (p.Thr900Ala) rs1320466105
NM_015046.7(SETX):c.2699C>G (p.Thr900Arg)
NM_015046.7(SETX):c.2721GAA[1] (p.Lys909del)
NM_015046.7(SETX):c.2887C>T (p.His963Tyr)
NM_015046.7(SETX):c.32G>A (p.Gly11Asp) rs886063560
NM_015046.7(SETX):c.3311A>C (p.Gln1104Pro) rs777787438
NM_015046.7(SETX):c.3350C>T (p.Thr1117Ile) rs1564541749
NM_015046.7(SETX):c.3428G>T (p.Arg1143Ile)
NM_015046.7(SETX):c.3566A>G (p.Asn1189Ser)
NM_015046.7(SETX):c.3567T>G (p.Asn1189Lys)
NM_015046.7(SETX):c.3601A>T (p.Ile1201Phe) rs1589740212
NM_015046.7(SETX):c.3607A>G (p.Arg1203Gly)
NM_015046.7(SETX):c.3683C>T (p.Thr1228Ile) rs921853577
NM_015046.7(SETX):c.377A>C (p.His126Pro)
NM_015046.7(SETX):c.3974A>G (p.Lys1325Arg)
NM_015046.7(SETX):c.4103G>T (p.Cys1368Phe) rs1445388214
NM_015046.7(SETX):c.4316T>C (p.Leu1439Ser) rs1589737441
NM_015046.7(SETX):c.4517T>C (p.Met1506Thr) rs199974622
NM_015046.7(SETX):c.4600G>C (p.Asp1534His) rs746807833
NM_015046.7(SETX):c.4679A>G (p.Asn1560Ser) rs2131430572
NM_015046.7(SETX):c.4698A>C (p.Pro1566=) rs2131430376
NM_015046.7(SETX):c.4739G>A (p.Arg1580His)
NM_015046.7(SETX):c.5328A>C (p.Gln1776His) rs1589702061
NM_015046.7(SETX):c.5549-5G>A
NM_015046.7(SETX):c.5645C>A (p.Ser1882Tyr)
NM_015046.7(SETX):c.5833G>C (p.Ala1945Pro)
NM_015046.7(SETX):c.58C>T (p.Arg20Cys)
NM_015046.7(SETX):c.5956A>T (p.Arg1986Trp) rs868436982
NM_015046.7(SETX):c.6083G>A (p.Cys2028Tyr)
NM_015046.7(SETX):c.6179G>C (p.Ser2060Thr)
NM_015046.7(SETX):c.6536T>C (p.Ile2179Thr) rs1366270093
NM_015046.7(SETX):c.6546+5G>C rs1564485095
NM_015046.7(SETX):c.6683C>T (p.Ser2228Leu) rs764541704
NM_015046.7(SETX):c.668T>A (p.Leu223His) rs1211053963
NM_015046.7(SETX):c.6778A>T (p.Met2260Leu) rs768334505
NM_015046.7(SETX):c.6976A>G (p.Ile2326Val) rs751216566
NM_015046.7(SETX):c.7079A>G (p.Asp2360Gly)
NM_015046.7(SETX):c.7157T>C (p.Ile2386Thr) rs201887051
NM_015046.7(SETX):c.7163C>G (p.Thr2388Arg) rs765418950
NM_015046.7(SETX):c.7200-3T>C
NM_015046.7(SETX):c.7317G>C (p.Gln2439His) rs1842567381
NM_015046.7(SETX):c.7516G>A (p.Ala2506Thr) rs1160553456
NM_015046.7(SETX):c.7568C>T (p.Thr2523Ile)
NM_015046.7(SETX):c.7628A>T (p.Lys2543Met)
NM_015046.7(SETX):c.7657A>G (p.Ile2553Val) rs546828646
NM_015046.7(SETX):c.7660T>C (p.Phe2554Leu) rs368269464
NM_015046.7(SETX):c.7708CCT[1] (p.Pro2571del) rs770590408
NM_015046.7(SETX):c.785A>G (p.Lys262Arg) rs770255148
NM_015046.7(SETX):c.838+4A>G rs1847472277
NM_015046.7(SETX):c.973A>G (p.Asn325Asp)
NM_015087.5(SPART):c.1213T>G (p.Cys405Gly)
NM_015087.5(SPART):c.1309G>T (p.Gly437Cys) rs139819321
NM_015087.5(SPART):c.469G>A (p.Ala157Thr)
NM_015284.3(SZT2):c.4230+4_4230+7dup
NM_015295.3(SMCHD1):c.1916_1918del (p.Gly639del) rs1598342592
NM_015295.3(SMCHD1):c.2688T>G (p.Ser896=)
NM_015295.3(SMCHD1):c.296T>C (p.Leu99Pro) rs1598284093
NM_015295.3(SMCHD1):c.3099T>C (p.Ser1033=)
NM_015295.3(SMCHD1):c.4847-1G>T
NM_015295.3(SMCHD1):c.5164G>A (p.Val1722Ile) rs2075998748
NM_015346.4(ZFYVE26):c.1958C>T (p.Pro653Leu) rs1566893050
NM_015346.4(ZFYVE26):c.2021G>A (p.Gly674Asp)
NM_015346.4(ZFYVE26):c.2173C>T (p.Arg725Cys)
NM_015346.4(ZFYVE26):c.2218C>T (p.His740Tyr)
NM_015346.4(ZFYVE26):c.2339G>A (p.Arg780Gln)
NM_015346.4(ZFYVE26):c.2495C>A (p.Pro832Gln)
NM_015346.4(ZFYVE26):c.3173G>A (p.Arg1058Gln)
NM_015346.4(ZFYVE26):c.3346G>T (p.Ala1116Ser) rs1566884500
NM_015346.4(ZFYVE26):c.3523G>A (p.Asp1175Asn)
NM_015346.4(ZFYVE26):c.5386G>A (p.Glu1796Lys)
NM_015346.4(ZFYVE26):c.5584C>T (p.Arg1862Cys)
NM_015346.4(ZFYVE26):c.6479A>T (p.Tyr2160Phe)
NM_015346.4(ZFYVE26):c.7081C>A (p.Pro2361Thr)
NM_015346.4(ZFYVE26):c.7348G>A (p.Ala2450Thr)
NM_015443.4(KANSL1):c.205A>G (p.Lys69Glu)
NM_015443.4(KANSL1):c.760T>G (p.Ser254Ala) rs780074451
NM_015488.5(PNKD):c.725C>G (p.Pro242Arg) rs1559533187
NM_015559.3(SETBP1):c.3294C>G (p.Asn1098Lys)
NM_015634.4(KIFBP):c.19G>T (p.Ala7Ser) rs1843307363
NM_015634.4(KIFBP):c.517A>G (p.Met173Val) rs200596309
NM_015634.4(KIFBP):c.541C>T (p.Leu181Phe)
NM_015915.5(ATL1):c.1040T>C (p.Met347Thr) rs1595620366
NM_015915.5(ATL1):c.1244G>A (p.Arg415Gln) rs397514712
NM_015915.5(ATL1):c.1322T>G (p.Ile441Ser) rs2039541164
NM_015915.5(ATL1):c.754A>T (p.Asn252Tyr) rs2140226902
NM_016156.6(MTMR2):c.1770+7_1770+19delinsC rs1555056865
NM_016156.6(MTMR2):c.1811G>A (p.Arg604Gln)
NM_016156.6(MTMR2):c.62G>T (p.Ser21Ile)
NM_016239.4(MYO15A):c.3080C>T (p.Thr1027Ile) rs1256708810
NM_016239.4(MYO15A):c.3259G>A (p.Ala1087Thr)
NM_016239.4(MYO15A):c.9985G>A (p.Val3329Met) rs1597820494
NM_016341.4(PLCE1):c.2032A>G (p.Met678Val) rs201422605
NM_016356.5(DCDC2):c.117G>A (p.Lys39=) rs1760499891
NM_016373.4(WWOX):c.1180G>A (p.Ala394Thr) rs767286260
NM_016373.4(WWOX):c.562C>A (p.Arg188Ser) rs199511589
NM_016373.4(WWOX):c.711C>G (p.Phe237Leu) rs769589145
NM_016373.4(WWOX):c.733G>A (p.Asp245Asn)
NM_016373.4(WWOX):c.968C>G (p.Pro323Arg) rs1567570468
NM_017433.5(MYO3A):c.1935G>T (p.Glu645Asp) rs745768108
NM_017534.6(MYH2):c.5129A>G (p.Gln1710Arg) rs2142291882
NM_017668.3(NDE1):c.635T>G (p.Val212Gly) rs1567653609
NM_017739.4(POMGNT1):c.1924A>G (p.Ile642Val) rs757749808
NM_017739.4(POMGNT1):c.1924A>T (p.Ile642Phe) rs757749808
NM_017780.4(CHD7):c.3778G>A (p.Gly1260Ser) rs1586405837
NM_017780.4(CHD7):c.5108C>T (p.Thr1703Ile) rs1236442873
NM_017780.4(CHD7):c.8076+1G>C rs1563671108
NM_017866.6(TMEM70):c.445G>C (p.Gly149Arg)
NM_018075.5(ANO10):c.*10G>A
NM_018075.5(ANO10):c.1050C>A (p.Ser350Arg) rs143141504
NM_018075.5(ANO10):c.1137T>C (p.Tyr379=)
NM_018075.5(ANO10):c.1260C>T (p.Ala420=) rs1365986557
NM_018075.5(ANO10):c.1315A>G (p.Thr439Ala) rs1559701894
NM_018075.5(ANO10):c.1429A>G (p.Thr477Ala)
NM_018075.5(ANO10):c.158_169dup (p.Arg53_Leu56dup) rs761124350
NM_018075.5(ANO10):c.1724G>A (p.Gly575Glu) rs865842244
NM_018075.5(ANO10):c.1753C>A (p.Pro585Thr)
NM_018075.5(ANO10):c.1853G>A (p.Arg618Gln)
NM_018075.5(ANO10):c.1866G>A (p.Met622Ile)
NM_018075.5(ANO10):c.1915-5883G>C
NM_018075.5(ANO10):c.341A>G (p.Asn114Ser)
NM_018075.5(ANO10):c.412A>G (p.Lys138Glu)
NM_018075.5(ANO10):c.45C>T (p.Phe15=)
NM_018075.5(ANO10):c.488C>T (p.Thr163Met)
NM_018075.5(ANO10):c.532G>A (p.Ala178Thr)
NM_018075.5(ANO10):c.602G>A (p.Arg201His)
NM_018075.5(ANO10):c.712G>C (p.Glu238Gln)
NM_018075.5(ANO10):c.86A>G (p.Glu29Gly)
NM_018075.5(ANO10):c.946C>T (p.Leu316=)
NM_018075.5(ANO10):c.966G>A (p.Val322=)
NM_018105.3(THAP1):c.505C>G (p.Arg169Gly) rs1131691345
NM_018109.4(MTPAP):c.1012G>A (p.Glu338Lys) rs1564519374
NM_018109.4(MTPAP):c.1134C>A (p.Phe378Leu)
NM_018109.4(MTPAP):c.1228G>T (p.Asp410Tyr)
NM_018109.4(MTPAP):c.1255T>G (p.Cys419Gly) rs17857517
NM_018109.4(MTPAP):c.1387-1G>A rs1840632482
NM_018109.4(MTPAP):c.1624A>G (p.Thr542Ala)
NM_018109.4(MTPAP):c.1667A>C (p.Asn556Thr) rs1415093650
NM_018109.4(MTPAP):c.1693A>G (p.Arg565Gly)
NM_018109.4(MTPAP):c.247C>T (p.Pro83Ser) rs372003224
NM_018109.4(MTPAP):c.396T>A (p.His132Gln)
NM_018109.4(MTPAP):c.556-10G>A rs777464633
NM_018109.4(MTPAP):c.888C>A (p.Gly296=) rs561168193
NM_018109.4(MTPAP):c.983C>T (p.Thr328Met) rs759258615
NM_018136.5(ASPM):c.1196A>T (p.Asp399Val) rs1557965585
NM_018136.5(ASPM):c.3173A>C (p.Asp1058Ala) rs1330310833
NM_018136.5(ASPM):c.3223C>G (p.His1075Asp) rs763084553
NM_018136.5(ASPM):c.3326A>G (p.Tyr1109Cys) rs1557956580
NM_018136.5(ASPM):c.3566C>T (p.Ser1189Phe) rs143805893
NM_018136.5(ASPM):c.505G>A (p.Val169Ile) rs1557966244
NM_018136.5(ASPM):c.6711C>A (p.Asn2237Lys) rs755151801
NM_018136.5(ASPM):c.9637-10T>A rs1558322767
NM_018136.5(ASPM):c.9C>A (p.Asn3Lys) rs373636557
NM_018319.4(TDP1):c.1317G>T (p.Leu439Phe) rs138711165
NM_018319.4(TDP1):c.1383C>T (p.Pro461=) rs1433982054
NM_018319.4(TDP1):c.1557G>C (p.Lys519Asn) rs1566913776
NM_018319.4(TDP1):c.1611C>G (p.Tyr537Ter) rs772318046
NM_018319.4(TDP1):c.1735G>A (p.Glu579Lys)
NM_018319.4(TDP1):c.1754-9T>C
NM_018319.4(TDP1):c.1819C>G (p.Pro607Ala)
NM_018319.4(TDP1):c.341_342del (p.Lys114fs) rs769278668
NM_018319.4(TDP1):c.34A>T (p.Ile12Leu) rs1566842225
NM_018319.4(TDP1):c.365_366delinsTA (p.Gly122Val) rs2139944180
NM_018319.4(TDP1):c.655T>C (p.Phe219Leu)
NM_018319.4(TDP1):c.657C>A (p.Phe219Leu)
NM_018319.4(TDP1):c.982A>G (p.Met328Val) rs1895351840
NM_018429.3(BDP1):c.3877_3880del (p.Arg1293fs) rs776007071
NM_018429.3(BDP1):c.5972C>G (p.Thr1991Arg) rs1439170098
NM_018429.3(BDP1):c.7573G>A (p.Val2525Ile) rs568058725
NM_018451.5(CENPJ):c.2140A>G (p.Ile714Val)
NM_018941.4(CLN8):c.347T>C (p.Phe116Ser) rs1563108002
NM_018943.3(TUBA8):c.554A>G (p.Tyr185Cys) rs758782368
NM_018972.4(GDAP1):c.310+3A>G rs1586795495
NM_018972.4(GDAP1):c.464A>G (p.Tyr155Cys)
NM_018972.4(GDAP1):c.466G>T (p.Ala156Ser) rs1809302381
NM_018972.4(GDAP1):c.931G>A (p.Val311Met) rs1586807556
NM_018972.4(GDAP1):c.977T>A (p.Val326Asp) rs1416176817
NM_018979.4(WNK1):c.3991C>T (p.Pro1331Ser) rs200513331
NM_020117.11(LARS1):c.173G>A (p.Arg58His)
NM_020247.5(COQ8A):c.1008C>G (p.Phe336Leu)
NM_020247.5(COQ8A):c.1012G>A (p.Ala338Thr)
NM_020247.5(COQ8A):c.1221C>G (p.Asp407Glu) rs1254419880
NM_020247.5(COQ8A):c.1257-6A>C
NM_020247.5(COQ8A):c.1390C>T (p.Arg464Trp)
NM_020247.5(COQ8A):c.1452C>G (p.Phe484Leu)
NM_020247.5(COQ8A):c.150G>T (p.Gln50His) rs2148052080
NM_020247.5(COQ8A):c.1670A>G (p.Asp557Gly)
NM_020247.5(COQ8A):c.1676A>C (p.His559Pro) rs902464326
NM_020247.5(COQ8A):c.1715C>T (p.Ser572Phe) rs1572089312
NM_020247.5(COQ8A):c.1805C>T (p.Pro602Leu) rs61995958
NM_020247.5(COQ8A):c.1813G>A (p.Glu605Lys) rs1572089727
NM_020247.5(COQ8A):c.1830C>T (p.His610=)
NM_020247.5(COQ8A):c.1936C>A (p.Gln646Lys) rs555171534
NM_020247.5(COQ8A):c.341G>A (p.Gly114Asp)
NM_020247.5(COQ8A):c.427G>A (p.Gly143Arg) rs760566419
NM_020247.5(COQ8A):c.521C>T (p.Thr174Ile)
NM_020247.5(COQ8A):c.578A>G (p.His193Arg)
NM_020247.5(COQ8A):c.595G>A (p.Glu199Lys)
NM_020247.5(COQ8A):c.712C>T (p.Arg238Cys)
NM_020247.5(COQ8A):c.921G>A (p.Met307Ile) rs2148126881
NM_020247.5(COQ8A):c.949AAC[1] (p.Asn318del) rs759061098
NM_020320.5(RARS2):c.-2A>G rs201150141
NM_020451.3(SELENON):c.1112G>A (p.Gly371Asp) rs745886248
NM_020451.3(SELENON):c.1148GCA[1] (p.Ser384del) rs770747626
NM_020822.3(KCNT1):c.1065G>A (p.Glu355=) rs1832162751
NM_020822.3(KCNT1):c.1921G>A (p.Glu641Lys) rs1564371427
NM_020822.3(KCNT1):c.2882G>A (p.Arg961His) rs200694691
NM_020822.3(KCNT1):c.2896G>A (p.Ala966Thr)
NM_020822.3(KCNT1):c.385C>G (p.Leu129Val) rs1402206752
NM_020822.3(KCNT1):c.82_85delinsC (p.Glu28_Phe29delinsLeu) rs1554760875
NM_020919.4(ALS2):c.1185GGT[1] (p.Val397del)
NM_020919.4(ALS2):c.1737+7G>A
NM_020919.4(ALS2):c.1738-4A>G
NM_020919.4(ALS2):c.1960A>C (p.Ser654Arg) rs61757690
NM_020919.4(ALS2):c.2180G>A (p.Gly727Asp)
NM_020919.4(ALS2):c.226G>A (p.Glu76Lys) rs2106090105
NM_020919.4(ALS2):c.2919C>G (p.Gly973=) rs2106008091
NM_020919.4(ALS2):c.3047C>T (p.Pro1016Leu) rs776807292
NM_020919.4(ALS2):c.3315A>G (p.Lys1105=) rs2106003724
NM_020919.4(ALS2):c.3346A>G (p.Ser1116Gly)
NM_020919.4(ALS2):c.3849A>C (p.Gly1283=) rs2105982146
NM_020919.4(ALS2):c.3981C>T (p.Thr1327=) rs1190350825
NM_020919.4(ALS2):c.4171G>A (p.Val1391Ile) rs1420843762
NM_020919.4(ALS2):c.4368G>T (p.Gly1456=)
NM_020919.4(ALS2):c.4403+4A>G rs1559031941
NM_020919.4(ALS2):c.45G>C (p.Lys15Asn) rs2106102596
NM_020919.4(ALS2):c.461A>G (p.Gln154Arg) rs1693768928
NM_021008.4(DEAF1):c.809G>A (p.Gly270Glu)
NM_021098.3(CACNA1H):c.1017C>G (p.Asn339Lys) rs753307543
NM_021098.3(CACNA1H):c.1754del (p.Pro585fs) rs2141260547
NM_021098.3(CACNA1H):c.1973AGA[1] (p.Lys659del) rs753052647
NM_021098.3(CACNA1H):c.3154+5G>C rs764360814
NM_021098.3(CACNA1H):c.3331G>C (p.Gly1111Arg) rs59529743
NM_021098.3(CACNA1H):c.4039-10C>A rs764056510
NM_021098.3(CACNA1H):c.412-5C>G rs577701046
NM_021098.3(CACNA1H):c.442G>A (p.Ala148Thr) rs1966873069
NM_021098.3(CACNA1H):c.5638A>T (p.Ile1880Phe) rs369689966
NM_021098.3(CACNA1H):c.637G>T (p.Val213Leu) rs772154386
NM_021098.3(CACNA1H):c.750G>C (p.Gln250His) rs1414057702
NM_021116.4(ADCY1):c.1310A>G (p.Lys437Arg) rs1250488516
NM_021625.5(TRPV4):c.1367A>G (p.Asn456Ser)
NM_021625.5(TRPV4):c.2256G>A (p.Leu752=) rs2136431404
NM_021625.5(TRPV4):c.2273C>G (p.Ser758Cys) rs778014423
NM_021625.5(TRPV4):c.24C>A (p.Pro8=) rs1891762098
NM_021625.5(TRPV4):c.799C>A (p.Gln267Lys) rs1323996959
NM_021830.5(TWNK):c.1099A>G (p.Ile367Val)
NM_021830.5(TWNK):c.1101C>G (p.Ile367Met)
NM_021830.5(TWNK):c.1120C>G (p.Arg374Gly)
NM_021830.5(TWNK):c.1440C>T (p.Asp480=) rs1564809336
NM_021830.5(TWNK):c.1511C>T (p.Ala504Val)
NM_021912.5(GABRB3):c.44C>G (p.Ser15Cys) rs121913126
NM_021942.6(TRAPPC11):c.1972T>A (p.Cys658Ser) rs1215126741
NM_021942.6(TRAPPC11):c.2269C>T (p.His757Tyr) rs1736372009
NM_021942.6(TRAPPC11):c.2324C>G (p.Thr775Ser) rs1579205735
NM_021942.6(TRAPPC11):c.2574T>C (p.Ser858=)
NM_021942.6(TRAPPC11):c.69G>A (p.Thr23=)
NM_021942.6(TRAPPC11):c.835T>C (p.Cys279Arg)
NM_021971.4(GMPPB):c.761T>G (p.Val254Gly)
NM_022089.4(ATP13A2):c.*9C>A rs773484997
NM_022089.4(ATP13A2):c.3222G>A (p.Pro1074=) rs372993383
NM_022089.4(ATP13A2):c.940C>T (p.Pro314Ser) rs752006308
NM_022124.6(CDH23):c.5476C>T (p.Arg1826Trp) rs753656026
NM_022168.4(IFIH1):c.682A>T (p.Thr228Ser)
NM_022464.5(SIL1):c.-10G>T rs199951755
NM_022464.5(SIL1):c.1036G>A (p.Ala346Thr) rs377150029
NM_022464.5(SIL1):c.1094G>A (p.Arg365His)
NM_022464.5(SIL1):c.1100T>C (p.Val367Ala)
NM_022464.5(SIL1):c.1168G>A (p.Glu390Lys)
NM_022464.5(SIL1):c.1177G>T (p.Ala393Ser)
NM_022464.5(SIL1):c.1238G>A (p.Arg413His)
NM_022464.5(SIL1):c.1255G>A (p.Gly419Ser) rs398124389
NM_022464.5(SIL1):c.1358T>C (p.Val453Ala)
NM_022464.5(SIL1):c.135G>A (p.Lys45=)
NM_022464.5(SIL1):c.221A>C (p.His74Pro)
NM_022464.5(SIL1):c.475C>T (p.Arg159Trp)
NM_022464.5(SIL1):c.527T>C (p.Val176Ala) rs1768669040
NM_022464.5(SIL1):c.715G>C (p.Glu239Gln) rs2150428182
NM_022464.5(SIL1):c.74G>A (p.Cys25Tyr) rs1750782507
NM_022464.5(SIL1):c.836C>T (p.Thr279Met) rs535287958
NM_022464.5(SIL1):c.903C>G (p.Pro301=) rs1561801612
NM_022464.5(SIL1):c.913C>A (p.Arg305=) rs758782317
NM_022464.5(SIL1):c.9C>G (p.Pro3=)
NM_022489.4(INF2):c.608C>A (p.Ala203Asp) rs1595166203
NM_022772.4(EPS8L2):c.1413G>A (p.Pro471=) rs369906914
NM_023110.3(FGFR1):c.1285-3C>A
NM_023110.3(FGFR1):c.1934C>T (p.Ala645Val) rs1586112776
NM_023110.3(FGFR1):c.569G>T (p.Trp190Leu) rs1554567027
NM_024009.3(GJB3):c.196_198del (p.Asp66del) rs786200895
NM_024301.5(FKRP):c.1000_1017dup (p.Glu334_Arg339dup) rs1599938256
NM_024301.5(FKRP):c.1195G>A (p.Glu399Lys) rs1230638385
NM_024301.5(FKRP):c.291C>T (p.Pro97=) rs1215872713
NM_024301.5(FKRP):c.930G>A (p.Glu310=)
NM_024306.5(FA2H):c.20C>T (p.Pro7Leu) rs1962978331
NM_024306.5(FA2H):c.678G>C (p.Trp226Cys) rs1555537615
NM_024306.5(FA2H):c.892G>A (p.Gly298Ser)
NM_024411.5(PDYN):c.149A>G (p.Gln50Arg)
NM_024411.5(PDYN):c.275A>G (p.Tyr92Cys)
NM_024411.5(PDYN):c.405C>A (p.Asp135Glu) rs147181436
NM_024411.5(PDYN):c.527G>A (p.Gly176Glu) rs1472967766
NM_024411.5(PDYN):c.565G>A (p.Val189Met)
NM_024411.5(PDYN):c.658_659del (p.Trp220fs) rs748307861
NM_024411.5(PDYN):c.68T>G (p.Leu23Arg)
NM_024577.4(SH3TC2):c.1196T>G (p.Phe399Cys) rs763564639
NM_024577.4(SH3TC2):c.1472_1474del (p.Phe491del)
NM_024577.4(SH3TC2):c.1473C>A (p.Phe491Leu)
NM_024577.4(SH3TC2):c.1922G>T (p.Arg641Leu) rs199991156
NM_024577.4(SH3TC2):c.2339T>C (p.Leu780Pro)
NM_024577.4(SH3TC2):c.2923C>G (p.Pro975Ala) rs1554121529
NM_024577.4(SH3TC2):c.3433G>C (p.Ala1145Pro) rs141715248
NM_024577.4(SH3TC2):c.3433G>T (p.Ala1145Ser) rs141715248
NM_024596.5(MCPH1):c.1403C>A (p.Thr468Asn) rs548329168
NM_024665.7(TBL1XR1):c.1174A>G (p.Lys392Glu) rs1576982869
NM_024665.7(TBL1XR1):c.1418C>T (p.Thr473Ile) rs1560091765
NM_024678.6(NARS2):c.496A>G (p.Ile166Val)
NM_024740.2(ALG9):c.1768T>C (p.Phe590Leu)
NM_024884.3(L2HGDH):c.1099T>C (p.Tyr367His) rs1222573122
NM_025137.3(SPG11):c.7151+4_7151+7dup
NM_025137.4(SPG11):c.1121C>A (p.Ser374Tyr) rs144403346
NM_025137.4(SPG11):c.5440A>T (p.Asn1814Tyr) rs1567138592
NM_025137.4(SPG11):c.6343+5G>T rs756302161
NM_025243.4(SLC19A3):c.*8G>T rs188532608
NM_025243.4(SLC19A3):c.896T>C (p.Val299Ala) rs1559249124
NM_030665.4(RAI1):c.1915C>T (p.Pro639Ser) rs1030615093
NM_030665.4(RAI1):c.3112A>G (p.Met1038Val)
NM_030665.4(RAI1):c.3430A>G (p.Met1144Val) rs1198803613
NM_030665.4(RAI1):c.3769G>T (p.Asp1257Tyr)
NM_030962.4(SBF2):c.1576G>C (p.Val526Leu)
NM_030962.4(SBF2):c.1618G>T (p.Val540Leu) rs201806063
NM_030962.4(SBF2):c.1622C>T (p.Thr541Met) rs372109447
NM_030962.4(SBF2):c.2203C>G (p.Leu735Val)
NM_030962.4(SBF2):c.2418A>G (p.Ser806=) rs1295154018
NM_030962.4(SBF2):c.2632C>G (p.Leu878Val) rs1256780818
NM_030962.4(SBF2):c.2947G>A (p.Ala983Thr)
NM_030962.4(SBF2):c.3322C>G (p.Gln1108Glu) rs1855969532
NM_030962.4(SBF2):c.3445C>G (p.Leu1149Val)
NM_030962.4(SBF2):c.3454A>G (p.Ser1152Gly)
NM_030962.4(SBF2):c.3456-5T>A
NM_030962.4(SBF2):c.3632C>A (p.Ser1211Tyr)
NM_030962.4(SBF2):c.3652+6C>T rs1057524041
NM_030962.4(SBF2):c.3841A>G (p.Thr1281Ala)
NM_030962.4(SBF2):c.4910A>G (p.Asp1637Gly) rs2133858414
NM_030962.4(SBF2):c.4950G>A (p.Glu1650=) rs1852466744
NM_030962.4(SBF2):c.5017GAA[1] (p.Glu1674del) rs572571832
NM_030962.4(SBF2):c.520T>C (p.Phe174Leu)
NM_030962.4(SBF2):c.910G>A (p.Glu304Lys) rs781039677
NM_030962.4(SBF2):c.975+3A>G rs1947797052
NM_031443.4(CCM2):c.458T>G (p.Val153Gly) rs1798685835
NM_031475.3(ESPN):c.667G>C (p.Val223Leu) rs1456264982
NM_032119.4(ADGRV1):c.11905C>T (p.Pro3969Ser) rs1581019828
NM_032119.4(ADGRV1):c.16780C>A (p.Arg5594Ser) rs376062087
NM_032119.4(ADGRV1):c.18674G>T (p.Ser6225Ile) rs1796208718
NM_032119.4(ADGRV1):c.5785G>T (p.Ala1929Ser) rs41311335
NM_032119.4(ADGRV1):c.9052T>C (p.Phe3018Leu) rs769373495
NM_032119.4(ADGRV1):c.9255C>A (p.Phe3085Leu) rs727503077
NM_032119.4(ADGRV1):c.9906+9C>T
NM_032409.3(PINK1):c.1108G>A (p.Val370Met) rs1570405073
NM_032409.3(PINK1):c.1183G>A (p.Gly395Ser)
NM_032634.4(PIGO):c.2337C>T (p.Val779=) rs1563995990
NM_032634.4(PIGO):c.3259C>T (p.Gln1087Ter) rs768738759
NM_032634.4(PIGO):c.547A>G (p.Lys183Glu) rs1564000883
NM_032737.4(LMNB2):c.1711-6G>C
NM_033056.4(PCDH15):c.5343del (p.Ser1782fs) rs1554820009
NM_033071.3(SYNE1):c.17995_17997delGAG
NM_033109.5(PNPT1):c.1925_1927del (p.Val642del) rs1572796197
NM_033305.3(VPS13A):c.1330G>C (p.Glu444Gln)
NM_033305.3(VPS13A):c.2288A>G (p.Lys763Arg) rs749375820
NM_033305.3(VPS13A):c.3243T>C (p.Asp1081=)
NM_033305.3(VPS13A):c.3637A>G (p.Ile1213Val) rs1172751806
NM_033305.3(VPS13A):c.4165C>G (p.Leu1389Val)
NM_033305.3(VPS13A):c.7207A>G (p.Thr2403Ala)
NM_033305.3(VPS13A):c.9475-3_9500dup rs2131675925
NM_033337.3(CAV3):c.139G>A (p.Glu47Lys) rs116840793
NM_033337.3(CAV3):c.241G>A (p.Gly81Ser) rs1708134992
NM_033337.3(CAV3):c.266G>A (p.Gly89Asp) rs1575477762
NM_033337.3(CAV3):c.277G>T (p.Ala93Ser) rs28936686
NM_033337.3(CAV3):c.454del (p.Ter152LysextTer?) rs1575478107
NM_033337.3(CAV3):c.91A>T (p.Asn31Tyr)
NM_033380.3(COL4A5):c.1032+5G>T rs104886315
NM_033380.3(COL4A5):c.1033-3A>G rs2066339277
NM_033380.3(COL4A5):c.2003C>T (p.Pro668Leu)
NM_033380.3(COL4A5):c.2019A>T (p.Arg673Ser) rs1569494902
NM_033380.3(COL4A5):c.2509+5G>C rs1556418297
NM_033380.3(COL4A5):c.4568C>G (p.Pro1523Arg) rs1603326447
NM_033380.3(COL4A5):c.465+2_465+3dup rs1569488954
NM_033380.3(COL4A5):c.466-13T>A rs1569489302
NM_033380.3(COL4A5):c.646-6C>G rs200151467
NM_033380.3(COL4A5):c.81G>A (p.Ala27=) rs1569469478
NM_033641.4(COL4A6):c.1305_1313dup (p.432GPP[4]) rs1050017866
NM_058246.4(DNAJB6):c.-8C>G rs754703559
NM_130384.3(ATRIP):c.*966G>A rs1187994319
NM_130811.4(SNAP25):c.164-154C>A rs1568623929
NM_130837.3(OPA1):c.1136G>A (p.Arg379His) rs1475478496
NM_130837.3(OPA1):c.1466T>C (p.Leu489Pro) rs1553877946
NM_130837.3(OPA1):c.1480G>A (p.Gly494Arg) rs2109046811
NM_130837.3(OPA1):c.1666G>A (p.Val556Ile) rs1553878564
NM_130837.3(OPA1):c.1722AGA[1] (p.Glu576del) rs794727173
NM_130837.3(OPA1):c.1834_1836del (p.Arg612del) rs1560380246
NM_130837.3(OPA1):c.2126A>G (p.Asp709Gly) rs2109139343
NM_130837.3(OPA1):c.2179-7A>G rs2109162943
NM_130837.3(OPA1):c.2218A>C (p.Met740Leu)
NM_130837.3(OPA1):c.2987_2992del (p.Lys996_Val997del) rs2109460418
NM_130837.3(OPA1):c.556+3A>G
NM_130839.5(UBE3A):c.2419A>G (p.Thr807Ala) rs374519603
NM_130839.5(UBE3A):c.901A>G (p.Met301Val) rs587783147
NM_133378.4(TTN):c.37385_37387delAAG rs759525338
NM_133433.4(NIPBL):c.2841_2843del (p.Gly948del) rs1369177636
NM_133433.4(NIPBL):c.3467T>C (p.Met1156Thr) rs914252297
NM_133433.4(NIPBL):c.7867C>G (p.Leu2623Val) rs1030959034
NM_133642.5(LARGE1):c.1656G>C (p.Lys552Asn) rs138573955
NM_139343.3(BIN1):c.1264-11_1270del rs776737413
NM_144498.4(OSBPL2):c.1021A>G (p.Ser341Gly) rs759698256
NM_144599.5(NIPA1):c.134C>A (p.Thr45Lys)
NM_144599.5(NIPA1):c.13G>T (p.Ala5Ser) rs976686334
NM_144599.5(NIPA1):c.781G>A (p.Gly261Arg)
NM_144672.4(OTOA):c.1690G>T (p.Ala564Ser)
NM_144672.4(OTOA):c.451C>G (p.Gln151Glu)
NM_145207.3(AFG2A):c.14A>G (p.Lys5Arg) rs1578507400
NM_145207.3(AFG2A):c.2038G>A (p.Ala680Thr) rs1578710903
NM_145207.3(AFG2A):c.289-10_289-9insA rs1560786260
NM_145239.3(PRRT2):c.774G>T (p.Gly258=) rs1900112126
NM_152296.5(ATP1A3):c.2582T>C (p.Val861Ala)
NM_152564.5(VPS13B):c.11745G>A (p.Glu3915=)
NM_152564.5(VPS13B):c.2816A>G (p.His939Arg) rs1563641697
NM_152564.5(VPS13B):c.8159T>C (p.Val2720Ala) rs369898130
NM_152564.5(VPS13B):c.9247A>C (p.Lys3083Gln)
NM_152743.4(BRAT1):c.1267G>A (p.Val423Ile) rs141807337
NM_152743.4(BRAT1):c.814T>C (p.Phe272Leu) rs1562577958
NM_153638.4(PANK2):c.61T>C (p.Ser21Pro) rs764119764
NM_153700.2(STRC):c.1466G>C (p.Ser489Thr) rs1257047735
NM_153700.2(STRC):c.2344C>T (p.Arg782Cys) rs1332832662
NM_153700.2(STRC):c.4472G>T (p.Cys1491Phe) rs1482623890
NM_170707.4(LMNA):c.1268C>T (p.Ser423Phe)
NM_170707.4(LMNA):c.1968+8G>T rs1651883222
NM_170707.4(LMNA):c.1970G>A (p.Ser657Asn) rs1651905151
NM_170707.4(LMNA):c.268A>G (p.Lys90Glu) rs1445068583
NM_170707.4(LMNA):c.41C>A (p.Ala14Glu) rs1256334293
NM_170707.4(LMNA):c.622A>C (p.Lys208Gln) rs770744765
NM_170707.4(LMNA):c.807C>G (p.Ala269=)
NM_170707.4(LMNA):c.99G>T (p.Glu33Asp) rs57966821
NM_172107.4(KCNQ2):c.1688_1689delinsCA (p.Asp563Ala)
NM_172107.4(KCNQ2):c.1757A>C (p.Gln586Pro) rs796052656
NM_172107.4(KCNQ2):c.2041G>A (p.Asp681Asn) rs1380546879
NM_172107.4(KCNQ2):c.2377G>A (p.Val793Met) rs377227909
NM_172107.4(KCNQ2):c.375C>T (p.Ala125=) rs1568944870
NM_173354.5(SIK1):c.1085C>T (p.Pro362Leu) rs1006861899
NM_173354.5(SIK1):c.190G>A (p.Asp64Asn)
NM_173477.5(USH1G):c.1137A>C (p.Leu379Phe) rs1292979261
NM_173500.4(TTBK2):c.1112C>T (p.Ser371Phe)
NM_173500.4(TTBK2):c.112G>A (p.Ala38Thr)
NM_173500.4(TTBK2):c.1200T>C (p.Ala400=)
NM_173500.4(TTBK2):c.1271T>C (p.Ile424Thr) rs1595898962
NM_173500.4(TTBK2):c.1319T>G (p.Val440Gly) rs1555422978
NM_173500.4(TTBK2):c.1437T>A (p.Ser479Arg) rs1889887053
NM_173500.4(TTBK2):c.1439C>A (p.Ala480Glu) rs1238647143
NM_173500.4(TTBK2):c.1698A>G (p.Thr566=) rs1171245575
NM_173500.4(TTBK2):c.1973C>T (p.Ala658Val)
NM_173500.4(TTBK2):c.2120C>T (p.Pro707Leu)
NM_173500.4(TTBK2):c.2293C>G (p.Leu765Val)
NM_173500.4(TTBK2):c.2356T>G (p.Ser786Ala)
NM_173500.4(TTBK2):c.2484A>G (p.Thr828=)
NM_173500.4(TTBK2):c.2798T>C (p.Met933Thr)
NM_173500.4(TTBK2):c.3471C>T (p.Ser1157=)
NM_173500.4(TTBK2):c.477T>C (p.Cys159=)
NM_173500.4(TTBK2):c.822G>C (p.Gln274His) rs2140925012
NM_173500.4(TTBK2):c.934T>A (p.Ser312Thr)
NM_173660.5(DOK7):c.1402G>T (p.Gly468Cys)
NM_173660.5(DOK7):c.1403_1408dup (p.Gly468_Pro469dup) rs762148551
NM_175875.5(SIX5):c.1852T>C (p.Ser618Pro) rs1600396951
NM_175914.5(HNF4A):c.1051A>G (p.Met351Val)
NM_175914.5(HNF4A):c.1063G>A (p.Gly355Arg) rs1568741527
NM_175914.5(HNF4A):c.1259G>A (p.Gly420Glu) rs2063851984
NM_175914.5(HNF4A):c.1268C>T (p.Pro423Leu)
NM_175914.5(HNF4A):c.1316C>T (p.Ser439Phe)
NM_175914.5(HNF4A):c.292T>C (p.Cys98Arg)
NM_175914.5(HNF4A):c.334C>T (p.Arg112Trp) rs370239205
NM_175914.5(HNF4A):c.427A>G (p.Ile143Val) rs368759794
NM_175914.5(HNF4A):c.50-4705G>A
NM_175914.5(HNF4A):c.593T>G (p.Leu198Arg) rs1568735272
NM_175914.5(HNF4A):c.670+5G>C rs1568735505
NM_175914.5(HNF4A):c.789G>C (p.Glu263Asp) rs1568736971
NM_175914.5(HNF4A):c.869G>A (p.Arg290His) rs1191912908
NM_175914.5(HNF4A):c.925C>A (p.Arg309Ser) rs193922479
NM_175914.5(HNF4A):c.931C>T (p.Arg311Cys) rs193922480
NM_175914.5(HNF4A):c.932G>A (p.Arg311His) rs1375557127
NM_175914.5(HNF4A):c.953T>A (p.Leu318Gln) rs1568741207
NM_175929.3(FGF14):c.177C>T (p.Gly59=)
NM_175929.3(FGF14):c.46T>A (p.Leu16Ile) rs773941026
NM_176787.5(PIGN):c.2411_2412delinsAG (p.Ile804Lys) rs1555679237
NM_176787.5(PIGN):c.2441C>G (p.Ser814Cys) rs1379216492
NM_177550.5(SLC13A5):c.43G>A (p.Val15Met) rs1223974189
NM_177550.5(SLC13A5):c.445G>A (p.Val149Met) rs1567622972
NM_177924.5(ASAH1):c.126-7A>G rs771021569
NM_177924.5(ASAH1):c.229G>C (p.Val77Leu) rs1185666268
NM_177924.5(ASAH1):c.326C>A (p.Pro109His) rs556045778
NM_177924.5(ASAH1):c.88G>T (p.Asp30Tyr) rs200758704
NM_178335.3(CCDC50):c.194A>G (p.Glu65Gly) rs1576958624
NM_181882.3(PRX):c.104C>A (p.Ala35Glu) rs138047753
NM_181882.3(PRX):c.1134C>T (p.Ala378=)
NM_181882.3(PRX):c.1490_1567del (p.Pro497_Leu522del)
NM_181882.3(PRX):c.1523C>T (p.Pro508Leu)
NM_181882.3(PRX):c.1568_1645del (p.Leu523_Leu548del)
NM_181882.3(PRX):c.1791G>A (p.Glu597=)
NM_181882.3(PRX):c.1805A>C (p.Glu602Ala) rs2079439386
NM_181882.3(PRX):c.1900_1914del (p.629MKLPE[1]) rs575492732
NM_181882.3(PRX):c.2404_2412del (p.Pro802_Met804del)
NM_181882.3(PRX):c.3190C>T (p.Pro1064Ser) rs937051533
NM_181882.3(PRX):c.3718G>A (p.Glu1240Lys)
NM_181882.3(PRX):c.3722G>A (p.Gly1241Asp) rs139120811
NM_181882.3(PRX):c.3873C>G (p.Tyr1291Ter) rs765769524
NM_181882.3(PRX):c.464A>T (p.Asp155Val) rs2079458431
NM_181882.3(PRX):c.631G>A (p.Ala211Thr) rs112973322
NM_182914.3(SYNE2):c.10348T>C (p.Trp3450Arg) rs375398029
NM_182914.3(SYNE2):c.11170T>A (p.Trp3724Arg) rs2097511363
NM_182914.3(SYNE2):c.12592C>G (p.Pro4198Ala) rs1448524579
NM_182914.3(SYNE2):c.12607G>C (p.Glu4203Gln) rs1595569322
NM_182914.3(SYNE2):c.1265T>A (p.Leu422Gln)
NM_182914.3(SYNE2):c.15361T>C (p.Ser5121Pro)
NM_182914.3(SYNE2):c.19585_19605dup (p.Gly6529_Gly6535dup) rs1596298521
NM_182914.3(SYNE2):c.20687C>T (p.Pro6896Leu) rs936362952
NM_182914.3(SYNE2):c.2151+4A>G
NM_182914.3(SYNE2):c.2429C>G (p.Thr810Ser)
NM_182914.3(SYNE2):c.2472G>T (p.Gln824His) rs760909392
NM_182914.3(SYNE2):c.3480+9del rs754100176
NM_182914.3(SYNE2):c.4597G>T (p.Val1533Phe)
NM_182914.3(SYNE2):c.4964A>C (p.Lys1655Thr) rs1594893225
NM_182914.3(SYNE2):c.7862A>G (p.Gln2621Arg) rs1459579829
NM_182961.4(SYNE1):c.1014G>T (p.Gln338His)
NM_182961.4(SYNE1):c.10217A>T (p.Asp3406Val) rs546645393
NM_182961.4(SYNE1):c.10259C>A (p.Ala3420Glu) rs748911036
NM_182961.4(SYNE1):c.10597C>A (p.Arg3533Ser) rs776816480
NM_182961.4(SYNE1):c.10608+6G>T rs1470021286
NM_182961.4(SYNE1):c.10767_10768delinsAA (p.Thr3589_Arg3590=)
NM_182961.4(SYNE1):c.10855G>A (p.Glu3619Lys) rs1214109688
NM_182961.4(SYNE1):c.10879C>T (p.Arg3627Cys) rs149712464
NM_182961.4(SYNE1):c.10936G>A (p.Glu3646Lys)
NM_182961.4(SYNE1):c.10989G>C (p.Gln3663His)
NM_182961.4(SYNE1):c.10996C>A (p.Leu3666Met)
NM_182961.4(SYNE1):c.11030G>T (p.Cys3677Phe) rs148028681
NM_182961.4(SYNE1):c.11089A>G (p.Ile3697Val)
NM_182961.4(SYNE1):c.11097C>T (p.Phe3699=) rs1554520414
NM_182961.4(SYNE1):c.11341G>A (p.Gly3781Ser) rs1210388961
NM_182961.4(SYNE1):c.1188C>T (p.Leu396=)
NM_182961.4(SYNE1):c.11892C>A (p.Ala3964=)
NM_182961.4(SYNE1):c.11896C>G (p.His3966Asp) rs1590808195
NM_182961.4(SYNE1):c.11980T>C (p.Cys3994Arg)
NM_182961.4(SYNE1):c.12203G>A (p.Ser4068Asn) rs1366322267
NM_182961.4(SYNE1):c.1229C>G (p.Pro410Arg)
NM_182961.4(SYNE1):c.12342_12350del (p.Glu4115_Thr4117del) rs749906433
NM_182961.4(SYNE1):c.12351+1G>A
NM_182961.4(SYNE1):c.12462G>A (p.Gln4154=) rs1563169531
NM_182961.4(SYNE1):c.12569A>T (p.Asn4190Ile)
NM_182961.4(SYNE1):c.12668G>A (p.Arg4223His)
NM_182961.4(SYNE1):c.12700G>A (p.Glu4234Lys)
NM_182961.4(SYNE1):c.12704A>T (p.Asp4235Val) rs964082904
NM_182961.4(SYNE1):c.12715A>G (p.Thr4239Ala)
NM_182961.4(SYNE1):c.12728A>G (p.His4243Arg) rs2153982032
NM_182961.4(SYNE1):c.13279C>T (p.Leu4427Phe)
NM_182961.4(SYNE1):c.13382C>G (p.Ala4461Gly)
NM_182961.4(SYNE1):c.13442A>C (p.His4481Pro) rs781515191
NM_182961.4(SYNE1):c.13576G>C (p.Glu4526Gln) rs372298749
NM_182961.4(SYNE1):c.13749_13751delinsGTG (p.Ile4583_Val4584delinsMetCys) rs1590225545
NM_182961.4(SYNE1):c.14183A>G (p.Glu4728Gly) rs2096222076
NM_182961.4(SYNE1):c.14423C>G (p.Thr4808Arg) rs373040273
NM_182961.4(SYNE1):c.14423C>T (p.Thr4808Met) rs373040273
NM_182961.4(SYNE1):c.14620G>A (p.Glu4874Lys)
NM_182961.4(SYNE1):c.14910C>T (p.Leu4970=)
NM_182961.4(SYNE1):c.15220A>G (p.Lys5074Glu)
NM_182961.4(SYNE1):c.15476T>A (p.Ile5159Asn) rs1474047577
NM_182961.4(SYNE1):c.154G>A (p.Asp52Asn) rs560155321
NM_182961.4(SYNE1):c.15599A>G (p.Gln5200Arg)
NM_182961.4(SYNE1):c.15679A>G (p.Ile5227Val)
NM_182961.4(SYNE1):c.15808A>G (p.Met5270Val)
NM_182961.4(SYNE1):c.15860C>T (p.Pro5287Leu) rs758942889
NM_182961.4(SYNE1):c.15898A>T (p.Met5300Leu) rs1221150819
NM_182961.4(SYNE1):c.15902A>G (p.Gln5301Arg) rs2153937818
NM_182961.4(SYNE1):c.16158A>T (p.Leu5386Phe) rs942561370
NM_182961.4(SYNE1):c.16236+9A>G
NM_182961.4(SYNE1):c.16337C>T (p.Thr5446Ile) rs766875930
NM_182961.4(SYNE1):c.16349C>T (p.Ala5450Val) rs181649865
NM_182961.4(SYNE1):c.16390-2A>C rs759460806
NM_182961.4(SYNE1):c.16717C>G (p.Leu5573Val)
NM_182961.4(SYNE1):c.16909T>G (p.Phe5637Val)
NM_182961.4(SYNE1):c.17051C>T (p.Pro5684Leu)
NM_182961.4(SYNE1):c.17202G>A (p.Gln5734=)
NM_182961.4(SYNE1):c.17311A>G (p.Ile5771Val)
NM_182961.4(SYNE1):c.17612G>C (p.Ser5871Thr)
NM_182961.4(SYNE1):c.176A>G (p.Asp59Gly)
NM_182961.4(SYNE1):c.17956C>T (p.Leu5986Phe) rs1044162044
NM_182961.4(SYNE1):c.18779T>A (p.Ile6260Asn)
NM_182961.4(SYNE1):c.19156G>A (p.Gly6386Arg)
NM_182961.4(SYNE1):c.19255C>A (p.Gln6419Lys) rs150700669
NM_182961.4(SYNE1):c.19306A>T (p.Asn6436Tyr) rs996252466
NM_182961.4(SYNE1):c.194C>A (p.Ala65Asp) rs1564640922
NM_182961.4(SYNE1):c.19594G>A (p.Gly6532Arg)
NM_182961.4(SYNE1):c.19721T>C (p.Ile6574Thr)
NM_182961.4(SYNE1):c.19729C>G (p.Arg6577Gly) rs368534747
NM_182961.4(SYNE1):c.19875A>G (p.Gln6625=) rs752250301
NM_182961.4(SYNE1):c.20408A>T (p.Glu6803Val) rs2083605476
NM_182961.4(SYNE1):c.20630T>C (p.Leu6877Pro)
NM_182961.4(SYNE1):c.20863-2del
NM_182961.4(SYNE1):c.21131G>A (p.Arg7044Lys)
NM_182961.4(SYNE1):c.2119G>C (p.Asp707His) rs751776711
NM_182961.4(SYNE1):c.21352-7T>G rs756684680
NM_182961.4(SYNE1):c.21413C>G (p.Ala7138Gly)
NM_182961.4(SYNE1):c.2147G>A (p.Cys716Tyr) rs369355230
NM_182961.4(SYNE1):c.21523-8dup rs761577958
NM_182961.4(SYNE1):c.21558C>G (p.Ser7186Arg)
NM_182961.4(SYNE1):c.21728G>A (p.Arg7243Lys)
NM_182961.4(SYNE1):c.21881G>A (p.Gly7294Asp) rs1377401737
NM_182961.4(SYNE1):c.22042C>T (p.Gln7348Ter) rs2079430530
NM_182961.4(SYNE1):c.22066A>G (p.Thr7356Ala)
NM_182961.4(SYNE1):c.22189A>G (p.Lys7397Glu)
NM_182961.4(SYNE1):c.22346+7T>A
NM_182961.4(SYNE1):c.22399A>T (p.Thr7467Ser) rs2153432788
NM_182961.4(SYNE1):c.22579G>A (p.Val7527Ile) rs1554568810
NM_182961.4(SYNE1):c.2264G>C (p.Arg755Thr)
NM_182961.4(SYNE1):c.22700G>C (p.Arg7567Pro) rs769474313
NM_182961.4(SYNE1):c.22867C>T (p.Leu7623=)
NM_182961.4(SYNE1):c.22891C>T (p.Leu7631Phe)
NM_182961.4(SYNE1):c.22896_22898del (p.Leu7633del) rs1360697609
NM_182961.4(SYNE1):c.22972A>G (p.Ser7658Gly) rs1438394866
NM_182961.4(SYNE1):c.23020-7A>G
NM_182961.4(SYNE1):c.23245A>G (p.Ile7749Val)
NM_182961.4(SYNE1):c.23335T>G (p.Leu7779Val) rs200800604
NM_182961.4(SYNE1):c.23371G>A (p.Glu7791Lys) rs1587006214
NM_182961.4(SYNE1):c.23442G>A (p.Met7814Ile)
NM_182961.4(SYNE1):c.23443A>G (p.Ile7815Val)
NM_182961.4(SYNE1):c.23460+9T>C
NM_182961.4(SYNE1):c.2359_2360delinsAA (p.Ala787Lys) rs1593187196
NM_182961.4(SYNE1):c.23686A>G (p.Ser7896Gly) rs1563144720
NM_182961.4(SYNE1):c.23817C>T (p.His7939=)
NM_182961.4(SYNE1):c.23873_23874delinsCA (p.Asp7958Ala) rs2152952645
NM_182961.4(SYNE1):c.2417T>C (p.Leu806Pro)
NM_182961.4(SYNE1):c.24248A>G (p.His8083Arg)
NM_182961.4(SYNE1):c.24249C>G (p.His8083Gln)
NM_182961.4(SYNE1):c.2444T>A (p.Ile815Asn)
NM_182961.4(SYNE1):c.24481A>G (p.Asn8161Asp) rs36215251
NM_182961.4(SYNE1):c.24540G>A (p.Leu8180=)
NM_182961.4(SYNE1):c.245G>T (p.Arg82Leu) rs143900928
NM_182961.4(SYNE1):c.24757C>G (p.Pro8253Ala) rs952705892
NM_182961.4(SYNE1):c.24897G>A (p.Met8299Ile)
NM_182961.4(SYNE1):c.24953T>G (p.Leu8318Arg) rs2059819373
NM_182961.4(SYNE1):c.24977-1796T>C
NM_182961.4(SYNE1):c.24986G>A (p.Ser8329Asn) rs1562984305
NM_182961.4(SYNE1):c.2501T>A (p.Ile834Asn)
NM_182961.4(SYNE1):c.25199G>T (p.Ser8400Ile) rs769976238
NM_182961.4(SYNE1):c.25435G>A (p.Glu8479Lys) rs754577367
NM_182961.4(SYNE1):c.25788G>T (p.Met8596Ile) rs2056760844
NM_182961.4(SYNE1):c.25800T>G (p.His8600Gln)
NM_182961.4(SYNE1):c.25851C>G (p.Cys8617Trp)
NM_182961.4(SYNE1):c.26142T>G (p.Ser8714Arg) rs1562884363
NM_182961.4(SYNE1):c.26158A>T (p.Thr8720Ser)
NM_182961.4(SYNE1):c.26242G>C (p.Ala8748Pro)
NM_182961.4(SYNE1):c.26267T>C (p.Leu8756Pro)
NM_182961.4(SYNE1):c.2672A>G (p.His891Arg)
NM_182961.4(SYNE1):c.2715T>A (p.His905Gln)
NM_182961.4(SYNE1):c.2831G>A (p.Arg944Gln)
NM_182961.4(SYNE1):c.2946T>C (p.Cys982=)
NM_182961.4(SYNE1):c.3494G>A (p.Arg1165His) rs201354687
NM_182961.4(SYNE1):c.3628T>C (p.Leu1210=) rs1564088813
NM_182961.4(SYNE1):c.3731C>A (p.Ser1244Tyr)
NM_182961.4(SYNE1):c.3907G>A (p.Glu1303Lys)
NM_182961.4(SYNE1):c.3977G>A (p.Arg1326His) rs371842938
NM_182961.4(SYNE1):c.403-9C>T rs1170159310
NM_182961.4(SYNE1):c.439T>C (p.Ser147Pro) rs2099078743
NM_182961.4(SYNE1):c.4597G>C (p.Gly1533Arg) rs573641821
NM_182961.4(SYNE1):c.4690-9A>G rs1249723629
NM_182961.4(SYNE1):c.4789-3T>C rs1228194784
NM_182961.4(SYNE1):c.4863C>T (p.Asn1621=)
NM_182961.4(SYNE1):c.5356A>G (p.Ser1786Gly) rs1592308081
NM_182961.4(SYNE1):c.5525T>C (p.Leu1842Pro) rs1178724960
NM_182961.4(SYNE1):c.5562G>A (p.Glu1854=)
NM_182961.4(SYNE1):c.561G>C (p.Trp187Cys) rs376693048
NM_182961.4(SYNE1):c.5715A>G (p.Ile1905Met)
NM_182961.4(SYNE1):c.5717A>G (p.Glu1906Gly) rs2154182301
NM_182961.4(SYNE1):c.578G>A (p.Gly193Asp) rs555846215
NM_182961.4(SYNE1):c.6314C>T (p.Ala2105Val) rs765644702
NM_182961.4(SYNE1):c.6518G>C (p.Ser2173Thr) rs747635010
NM_182961.4(SYNE1):c.661C>A (p.Arg221=) rs750266004
NM_182961.4(SYNE1):c.6745T>C (p.Leu2249=) rs1563754171
NM_182961.4(SYNE1):c.7187G>A (p.Cys2396Tyr)
NM_182961.4(SYNE1):c.7345C>T (p.Leu2449Phe) rs757562714
NM_182961.4(SYNE1):c.7369A>G (p.Ser2457Gly)
NM_182961.4(SYNE1):c.7378C>A (p.Gln2460Lys)
NM_182961.4(SYNE1):c.7898T>G (p.Leu2633Arg)
NM_182961.4(SYNE1):c.7996C>A (p.Gln2666Lys) rs577888458
NM_182961.4(SYNE1):c.8104G>A (p.Val2702Met) rs2097589904
NM_182961.4(SYNE1):c.8149A>G (p.Ile2717Val)
NM_182961.4(SYNE1):c.82G>A (p.Val28Ile)
NM_182961.4(SYNE1):c.8321A>G (p.Asp2774Gly)
NM_182961.4(SYNE1):c.8389T>G (p.Ser2797Ala)
NM_182961.4(SYNE1):c.8513T>C (p.Ile2838Thr)
NM_182961.4(SYNE1):c.8593C>G (p.Arg2865Gly) rs757720748
NM_182961.4(SYNE1):c.8607G>A (p.Met2869Ile)
NM_182961.4(SYNE1):c.869C>G (p.Thr290Ser)
NM_182961.4(SYNE1):c.8865G>T (p.Glu2955Asp)
NM_182961.4(SYNE1):c.902G>A (p.Gly301Asp)
NM_182961.4(SYNE1):c.909A>G (p.Pro303=)
NM_182961.4(SYNE1):c.9103A>G (p.Thr3035Ala) rs1190085053
NM_182961.4(SYNE1):c.9138G>T (p.Glu3046Asp) rs1591450086
NM_182961.4(SYNE1):c.9277A>G (p.Ile3093Val)
NM_182961.4(SYNE1):c.9401T>C (p.Leu3134Pro) rs1563476322
NM_182961.4(SYNE1):c.9495A>C (p.Glu3165Asp) rs6913579
NM_182961.4(SYNE1):c.9516G>T (p.Lys3172Asn)
NM_182961.4(SYNE1):c.9528G>A (p.Lys3176=)
NM_182961.4(SYNE1):c.9607C>T (p.Leu3203Phe)
NM_182961.4(SYNE1):c.9738C>G (p.Ala3246=) rs140123292
NM_182961.4(SYNE1):c.9785T>C (p.Leu3262Pro) rs1183260471
NM_194248.3(OTOF):c.2215-125A>G rs750259905
NM_194248.3(OTOF):c.3080A>G (p.Asp1027Gly)
NM_198578.4(LRRK2):c.2299C>T (p.Arg767Cys)
NM_198578.4(LRRK2):c.6903G>A (p.Met2301Ile)
NM_198586.3(NHLRC1):c.224G>C (p.Cys75Ser)
NM_198586.3(NHLRC1):c.820G>A (p.Gly274Arg) rs568213488
NM_198859.4(PRICKLE2):c.1134G>T (p.Met378Ile) rs368695262
NM_198859.4(PRICKLE2):c.1322T>A (p.Met441Lys) rs770462303
NM_198994.3(TGM6):c.1021G>A (p.Ala341Thr) rs780209863
NM_198994.3(TGM6):c.1063C>A (p.Leu355Met)
NM_198994.3(TGM6):c.109T>A (p.Ser37Thr) rs2084649513
NM_198994.3(TGM6):c.1133G>A (p.Arg378His) rs756051299
NM_198994.3(TGM6):c.1150C>T (p.Leu384=)
NM_198994.3(TGM6):c.1171G>C (p.Val391Leu)
NM_198994.3(TGM6):c.11del (p.Ile4fs) rs1218671148
NM_198994.3(TGM6):c.1337-7C>A rs1239255276
NM_198994.3(TGM6):c.1343G>A (p.Arg448Gln)
NM_198994.3(TGM6):c.1429_1430insCTGTCTCTGGCGTGACGACCTC (p.Gly477fs) rs766605124
NM_198994.3(TGM6):c.1430_1439del (p.Gly477fs) rs760886419
NM_198994.3(TGM6):c.1431G>A (p.Gly477=) rs373549904
NM_198994.3(TGM6):c.1433_1464dup (p.Pro489fs) rs1599961411
NM_198994.3(TGM6):c.1556A>G (p.Asn519Ser) rs374219808
NM_198994.3(TGM6):c.1567C>T (p.Arg523Trp)
NM_198994.3(TGM6):c.1576C>G (p.Arg526Gly)
NM_198994.3(TGM6):c.1593G>T (p.Leu531=) rs1236088442
NM_198994.3(TGM6):c.1800G>C (p.Lys600Asn) rs2122442359
NM_198994.3(TGM6):c.1882G>T (p.Val628Leu) rs1162119013
NM_198994.3(TGM6):c.20C>A (p.Thr7Asn)
NM_198994.3(TGM6):c.229T>C (p.Ser77Pro) rs1568656099
NM_198994.3(TGM6):c.230C>T (p.Ser77Leu)
NM_198994.3(TGM6):c.410A>G (p.Asn137Ser) rs1568656289
NM_198994.3(TGM6):c.427G>A (p.Asp143Asn) rs1568656906
NM_198994.3(TGM6):c.51_56delinsTGGGTACT (p.Ala18fs) rs2122345234
NM_198994.3(TGM6):c.543+1G>T
NM_198994.3(TGM6):c.841del (p.Leu281fs) rs1555799865
NM_198994.3(TGM6):c.955C>T (p.Arg319Trp) rs572902669
NM_198994.3(TGM6):c.97C>T (p.Arg33Cys) rs147548610
NM_198999.3(SLC26A5):c.790G>A (p.Val264Ile)
NM_201378.4(PLEC):c.71-11926A>T
NM_201378.4(PLEC):c.71-11933A>C
NM_201378.4(PLEC):c.71-3711_71-3639delinsAC rs1564189462
NM_201378.4(PLEC):c.71-3767_71-3737del rs782134237
NM_201378.4(PLEC):c.71-5976C>T rs782207101
NM_201384.3(PLEC):c.10039G>A (p.Val3347Met) rs782748769
NM_201384.3(PLEC):c.10469A>G (p.Gln3490Arg)
NM_201384.3(PLEC):c.11364G>A (p.Lys3788=) rs782618512
NM_201384.3(PLEC):c.1249G>A (p.Ala417Thr) rs781879136
NM_201384.3(PLEC):c.1263+7_1263+10delinsCAGTCGGTGAGGCAGCAGTCG rs1064794978
NM_201384.3(PLEC):c.13208C>T (p.Pro4403Leu) rs781860439
NM_201384.3(PLEC):c.13356C>T (p.Arg4452=)
NM_201384.3(PLEC):c.1349G>A (p.Arg450Gln)
NM_201384.3(PLEC):c.1418+5G>T
NM_201384.3(PLEC):c.1738-9C>T
NM_201384.3(PLEC):c.176C>T (p.Ala59Val) rs530919504
NM_201384.3(PLEC):c.1834C>A (p.Leu612Ile)
NM_201384.3(PLEC):c.2269_2274dup (p.Val757_Thr758dup) rs1827261502
NM_201384.3(PLEC):c.2847G>A (p.Glu949=) rs1169421274
NM_201384.3(PLEC):c.3028_3033dup (p.Pro1010_Leu1011dup) rs782308502
NM_201384.3(PLEC):c.3105G>T (p.Gly1035=)
NM_201384.3(PLEC):c.3595C>G (p.Gln1199Glu) rs1564083000
NM_201384.3(PLEC):c.3778C>T (p.Arg1260Cys) rs151022876
NM_201384.3(PLEC):c.4146_4157del (p.Lys1383_Ala1386del)
NM_201384.3(PLEC):c.4286C>T (p.Ser1429Leu)
NM_201384.3(PLEC):c.4576G>A (p.Glu1526Lys)
NM_201384.3(PLEC):c.6169_6170delinsAT (p.Ala2057Met) rs1564026689
NM_201384.3(PLEC):c.6658G>A (p.Ala2220Thr)
NM_201384.3(PLEC):c.7370G>C (p.Arg2457Pro) rs199504105
NM_201384.3(PLEC):c.7513C>T (p.Arg2505Trp) rs782284017
NM_201384.3(PLEC):c.7540G>A (p.Ala2514Thr) rs1304886778
NM_201384.3(PLEC):c.7652G>A (p.Ser2551Asn) rs782184912
NM_201384.3(PLEC):c.7717C>A (p.Leu2573Met) rs1564000724
NM_201384.3(PLEC):c.8820C>T (p.Asp2940=) rs58308209
NM_201384.3(PLEC):c.8873TCA[2] (p.Ile2960del) rs1586830080
NM_201384.3(PLEC):c.9120C>T (p.Ile3040=)
NM_201384.3(PLEC):c.9409C>G (p.Gln3137Glu) rs1822186323
NM_201384.3(PLEC):c.9490G>C (p.Asp3164His) rs782682146
NM_201525.4(ADGRG1):c.1007A>G (p.Gln336Arg) rs2045608336
NM_203446.3(SYNJ1):c.3140G>A (p.Arg1047Gln)
NM_203446.3(SYNJ1):c.3278C>T (p.Pro1093Leu) rs1326671091
NM_203446.3(SYNJ1):c.384T>C (p.Phe128=) rs746811167
NM_203446.3(SYNJ1):c.528T>A (p.Asp176Glu) rs1277503442
NM_206933.4(USH2A):c.10284A>G (p.Ile3428Met) rs1571686105
NM_207346.3(TSEN54):c.1039_1041delinsTAC (p.Lys347Tyr) rs1568003520
NM_207346.3(TSEN54):c.1130G>T (p.Ser377Ile)
NM_207346.3(TSEN54):c.1183C>G (p.Arg395Gly) rs572964665
NM_213599.3(ANO5):c.1222C>T (p.Leu408=) rs997655691
NM_213599.3(ANO5):c.1606A>T (p.Ile536Leu)
NM_213599.3(ANO5):c.1856C>A (p.Thr619Asn) rs1554931947
NM_213599.3(ANO5):c.1959T>G (p.Ser653Arg)
NM_213599.3(ANO5):c.2648A>G (p.Lys883Arg)
NM_213599.3(ANO5):c.265_267delinsTAC (p.Asp89Tyr) rs2133588821
NM_213599.3(ANO5):c.2741A>G (p.Ter914=)
NM_213599.3(ANO5):c.618CTT[1] (p.Phe208del) rs774304728
Single allele
m.4295A>G rs121434467

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.