ClinVar Miner

List of variants reported by GenomeConnect - Invitae Patient Insights Network

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ClinVar version:
Total variants: 1251
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HGVS dbSNP gnomAD frequency
NM_213599.3(ANO5):c.267T>C (p.Asp89=) rs4312063 0.83210
NM_000153.4(GALC):c.1685T>C (p.Ile562Thr) rs398607 0.49249
NM_003465.3(CHIT1):c.304G>A (p.Gly102Ser) rs2297950 0.29831
NM_000017.4(ACADS):c.625G>A (p.Gly209Ser) rs1799958 0.20997
NM_000410.4(HFE):c.187C>G (p.His63Asp) rs1799945 0.10170
NM_000402.4(G6PD):c.466A>G (p.Asn156Asp) rs1050829 0.08672
NM_000487.6(ARSA):c.*96A>G rs6151429 0.05120
NM_000152.3(GAA):c.2065G>A (p.Glu689Lys) rs1800309 0.04394
NM_000410.4(HFE):c.845G>A (p.Cys282Tyr) rs1800562 0.03738
NM_000402.4(G6PD):c.292G>A (p.Val98Met) rs1050828 0.03616
NM_001370658.1(BTD):c.1270G>C (p.Asp424His) rs13078881 0.03225
NM_001127701.1(SERPINA1):c.863A>T (p.Glu288Val) rs17580 0.02788
NM_001370466.1(NOD2):c.2023C>T (p.Arg675Trp) rs2066844 0.02760
NM_000152.5(GAA):c.271G>A (p.Asp91Asn) rs1800299 0.02215
NM_025216.3(WNT10A):c.682T>A (p.Phe228Ile) rs121908120 0.01412
NM_001379610.1(SPINK1):c.101A>G (p.Asn34Ser) rs17107315 0.00797
NM_000152.5(GAA):c.1726G>A (p.Gly576Ser) rs1800307 0.00653
NM_000371.4(TTR):c.424G>A (p.Val142Ile) rs76992529 0.00475
NM_000350.3(ABCA4):c.2588G>C (p.Gly863Ala) rs76157638 0.00445
NM_000051.4(ATM):c.1810C>T (p.Pro604Ser) rs2227922 0.00431
NM_002863.5(PYGL):c.1900G>C (p.Asp634His) rs35026927 0.00426
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr) rs17879961 0.00408
NM_201384.3(PLEC):c.3682C>T (p.Arg1228Trp) rs144610086 0.00403
NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg) rs34557412 0.00391
NM_000303.3(PMM2):c.422G>A (p.Arg141His) rs28936415 0.00368
NM_003119.4(SPG7):c.1529C>T (p.Ala510Val) rs61755320 0.00364
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp) rs36053993 0.00341
NM_000406.3(GNRHR):c.317A>G (p.Gln106Arg) rs104893836 0.00236
NM_000642.3(AGL):c.2390A>G (p.Asn797Ser) rs149210307 0.00212
NM_002485.5(NBN):c.643C>T (p.Arg215Trp) rs34767364 0.00206
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg) rs113624356 0.00188
NM_007194.4(CHEK2):c.1100del (p.Thr367fs) rs555607708 0.00181
NM_001048174.2(MUTYH):c.452A>G (p.Tyr151Cys) rs34612342 0.00168
NM_020458.4(TTC7A):c.1447G>A (p.Gly483Arg) rs150438028 0.00166
NM_000540.3(RYR1):c.12884C>T (p.Ala4295Val) rs193922855 0.00163
NM_001354604.2(MITF):c.1273G>A (p.Glu425Lys) rs149617956 0.00158
NM_006017.3(PROM1):c.1345G>A (p.Val449Met) rs200620291 0.00152
NM_002693.3(POLG):c.752C>T (p.Thr251Ile) rs113994094 0.00151
NM_000243.3(MEFV):c.2177T>C (p.Val726Ala) rs28940579 0.00147
NM_002528.7(NTHL1):c.244C>T (p.Gln82Ter) rs150766139 0.00138
NM_182914.3(SYNE2):c.19135C>T (p.Arg6379Cys) rs141741640 0.00138
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe) rs80338902 0.00137
NM_000243.3(MEFV):c.986G>A (p.Arg329His) rs104895112 0.00133
NM_014140.4(SMARCAL1):c.1196C>T (p.Thr399Met) rs139872089 0.00129
NM_000051.4(ATM):c.6067G>A (p.Gly2023Arg) rs11212587 0.00127
NM_005535.3(IL12RB1):c.1172C>T (p.Pro391Leu) rs140254802 0.00123
NM_006231.4(POLE):c.861T>A (p.Asp287Glu) rs139075637 0.00122
NM_000038.6(APC):c.3920T>A (p.Ile1307Lys) rs1801155 0.00116
NM_005592.4(MUSK):c.665A>G (p.Asn222Ser) rs55826142 0.00116
NM_014845.6(FIG4):c.122T>C (p.Ile41Thr) rs121908287 0.00115
NM_001130987.2(DYSF):c.2956A>T (p.Met986Leu) rs144636654 0.00112
NM_003151.4(STAT4):c.383A>T (p.Glu128Val) rs140675301 0.00111
NM_181882.3(PRX):c.823C>A (p.Leu275Ile) rs200033507 0.00108
NM_032790.4(ORAI1):c.100A>C (p.Ser34Arg) rs781829024 0.00102
NM_025137.4(SPG11):c.5121G>T (p.Glu1707Asp) rs145643238 0.00096
NM_000053.4(ATP7B):c.3207C>A (p.His1069Gln) rs76151636 0.00094
NM_022089.4(ATP13A2):c.2836A>T (p.Ile946Phe) rs55708915 0.00094
NM_001164508.2(NEB):c.3986A>C (p.Asp1329Ala) rs115986826 0.00093
NM_020461.4(TUBGCP6):c.589T>C (p.Ser197Pro) rs138586345 0.00090
NM_080911.3(UNG):c.262C>T (p.Arg88Cys) rs151095402 0.00090
NM_003764.4(STX11):c.616G>A (p.Glu206Lys) rs145347140 0.00086
NM_032119.4(ADGRV1):c.3509A>G (p.Tyr1170Cys) rs188772875 0.00086
NM_025216.3(WNT10A):c.321C>A (p.Cys107Ter) rs121908119 0.00084
NM_018941.4(CLN8):c.374A>G (p.Asn125Ser) rs142269885 0.00083
NM_020937.4(FANCM):c.1237T>C (p.Tyr413His) rs138225703 0.00082
NM_000108.5(DLD):c.788G>A (p.Arg263His) rs145670503 0.00080
NM_001377458.1(CLCC1):c.1600G>A (p.Ala534Thr) rs148212619 0.00078
NM_004525.3(LRP2):c.6160G>A (p.Asp2054Asn) rs138269726 0.00078
NM_015512.5(DNAH1):c.9646C>G (p.Leu3216Val) rs200158571 0.00076
NM_000083.3(CLCN1):c.501C>G (p.Phe167Leu) rs149729531 0.00075
NM_003122.5(SPINK1):c.-147A>G rs779832256 0.00074
NM_014797.3(ZBTB24):c.1750A>T (p.Met584Leu) rs139491074 0.00073
NM_152383.5(DIS3L2):c.1447C>G (p.Arg483Gly) rs186865544 0.00073
NM_001363118.2(SLC52A2):c.1039G>A (p.Val347Met) rs145502954 0.00068
NM_018139.3(DNAAF2):c.731C>A (p.Ala244Glu) rs112700048 0.00068
NM_014956.5(CEP164):c.548T>A (p.Met183Lys) rs144206271 0.00067
NM_024577.4(SH3TC2):c.2860C>T (p.Arg954Ter) rs80338933 0.00067
NM_001723.7(DST):c.3436A>G (p.Met1146Val) rs148413592 0.00066
NM_000551.4(VHL):c.340+578C>T rs139622356 0.00064
NM_001364905.1(LRBA):c.8024C>T (p.Thr2675Ile) rs202244838 0.00064
NM_015599.3(PGM3):c.1354C>A (p.Leu452Ile) rs201593125 0.00061
NM_032119.4(ADGRV1):c.12181G>T (p.Val4061Phe) rs200816323 0.00061
NM_001082486.2(ACD):c.22G>A (p.Val8Ile) rs149365469 0.00060
NM_006172.4(NPPA):c.352C>A (p.Leu118Met) rs147081122 0.00060
NM_001130987.2(DYSF):c.2402C>T (p.Ala801Val) rs147139414 0.00059
NM_001776.6(ENTPD1):c.25G>A (p.Val9Met) rs150772804 0.00059
NM_172245.4(CSF2RA):c.191A>G (p.Asp64Gly) rs150743648 0.00059
NM_001244008.2(KIF1A):c.3494T>C (p.Ile1165Thr) rs35698242 0.00057
NM_022124.6(CDH23):c.7823G>A (p.Arg2608His) rs202052174 0.00057
NM_000215.4(JAK3):c.23C>T (p.Thr8Met) rs145500023 0.00056
NM_015346.4(ZFYVE26):c.5401G>A (p.Ala1801Thr) rs138965635 0.00056
NM_030930.4(UNC93B1):c.1210C>T (p.Pro404Ser) rs377021545 0.00056
NM_001130987.2(DYSF):c.794C>T (p.Pro265Leu) rs143053635 0.00054
NM_000391.4(TPP1):c.509-1G>C rs56144125 0.00053
NM_152564.5(VPS13B):c.983A>G (p.His328Arg) rs181625846 0.00053
NM_003664.5(AP3B1):c.3131+5G>T rs191616060 0.00051
NC_000007.14:g.128774598C>T rs148243232 0.00050
NM_014780.5(CUL7):c.2563A>G (p.Lys855Glu) rs140218677 0.00050
NM_001048174.2(MUTYH):c.841C>T (p.Arg281Cys) rs138089183 0.00048
NM_004370.6(COL12A1):c.7885G>A (p.Glu2629Lys) rs147044263 0.00046
NM_030962.4(SBF2):c.2081C>T (p.Ala694Val) rs141368249 0.00046
NM_033409.4(SLC52A3):c.1371C>G (p.Phe457Leu) rs145431028 0.00046
NM_004370.6(COL12A1):c.4744A>C (p.Met1582Leu) rs200520924 0.00045
NM_000222.3(KIT):c.200C>G (p.Thr67Ser) rs144933028 0.00043
NM_015662.3(IFT172):c.4666G>A (p.Val1556Met) rs141098495 0.00043
NM_020376.4(PNPLA2):c.1447G>C (p.Gly483Arg) rs557790601 0.00042
NM_198525.3(KIF7):c.1177G>T (p.Gly393Cys) rs553968087 0.00042
NM_015662.3(IFT172):c.3674G>A (p.Arg1225Gln) rs141440865 0.00041
NM_032043.3(BRIP1):c.2220G>T (p.Gln740His) rs45589637 0.00041
NM_182961.4(SYNE1):c.25751A>C (p.Asp8584Ala) rs41291047 0.00041
NM_000169.3(GLA):c.427G>A (p.Ala143Thr) rs104894845 0.00039
NM_002838.5(PTPRC):c.995C>T (p.Thr332Ile) rs148025707 0.00039
NM_003060.4(SLC22A5):c.1451G>T (p.Gly484Val) rs28383480 0.00039
NM_001349253.2(SCN11A):c.268-3C>T rs200598776 0.00037
NM_139343.3(BIN1):c.696C>A (p.Asn232Lys) rs143820618 0.00037
NM_000393.5(COL5A2):c.4067A>G (p.Asp1356Gly) rs140952583 0.00036
NM_000494.4(COL17A1):c.3739C>T (p.Arg1247Trp) rs144220426 0.00036
NM_000540.3(RYR1):c.1453A>G (p.Met485Val) rs147723844 0.00036
NM_001079.4(ZAP70):c.1645A>G (p.Met549Val) rs150950017 0.00036
NM_019109.5(ALG1):c.773C>T (p.Ser258Leu) rs28939378 0.00036
NM_001378778.1(MPDZ):c.6115G>A (p.Ala2039Thr) rs140627050 0.00035
NM_017617.5(NOTCH1):c.1981G>A (p.Gly661Ser) rs201077220 0.00035
NM_005732.4(RAD50):c.2397G>C (p.Gln799His) rs61749630 0.00034
NM_007194.4(CHEK2):c.1312G>T (p.Asp438Tyr) rs200050883 0.00034
NM_024782.3(NHEJ1):c.170G>A (p.Arg57Gln) rs61753339 0.00034
NM_182961.4(SYNE1):c.11218A>G (p.Thr3740Ala) rs144797744 0.00034
NM_000260.4(MYO7A):c.5108C>T (p.Ala1703Val) rs199561332 0.00033
NM_004370.6(COL12A1):c.7853C>T (p.Thr2618Met) rs201988277 0.00033
NM_001365480.1(CCDC88A):c.2603C>T (p.Thr868Ile) rs145063885 0.00032
NM_005732.4(RAD50):c.2647C>T (p.Arg883Cys) rs138749920 0.00032
NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met) rs142763740 0.00032
NM_014053.4(FLVCR1):c.1158T>G (p.Ile386Met) rs149834738 0.00032
NM_000539.3(RHO):c.209C>T (p.Thr70Met) rs143559914 0.00031
NM_004364.5(CEBPA):c.724G>A (p.Gly242Ser) rs530569305 0.00031
NM_000051.4(ATM):c.7174C>T (p.Arg2392Trp) rs149827260 0.00030
NM_006206.6(PDGFRA):c.3155C>T (p.Thr1052Met) rs397514550 0.00030
NM_000540.3(RYR1):c.79G>A (p.Val27Met) rs143481004 0.00029
NM_014874.4(MFN2):c.2119C>T (p.Arg707Trp) rs119103267 0.00029
NM_000051.4(ATM):c.3014A>G (p.Asn1005Ser) rs146531614 0.00028
NM_000051.4(ATM):c.7004C>T (p.Thr2335Ile) rs3092831 0.00028
NM_000232.5(SGCB):c.496A>G (p.Ile166Val) rs138877636 0.00028
NM_152490.5(B3GALNT2):c.575G>A (p.Arg192His) rs201345883 0.00028
NM_001376.5(DYNC1H1):c.5971G>A (p.Asp1991Asn) rs151001016 0.00027
NM_032608.7(MYO18B):c.5047G>A (p.Val1683Ile) rs200295571 0.00027
NM_000135.4(FANCA):c.2390C>T (p.Ala797Val) rs138248569 0.00026
NM_004360.5(CDH1):c.2413G>A (p.Asp805Asn) rs200894246 0.00026
NM_004369.4(COL6A3):c.3118G>A (p.Val1040Ile) rs78427077 0.00026
NM_004415.4(DSP):c.1696G>A (p.Ala566Thr) rs148147581 0.00026
NM_005228.5(EGFR):c.2543C>T (p.Pro848Leu) rs148934350 0.00026
NM_005732.4(RAD50):c.1094G>A (p.Arg365Gln) rs146370443 0.00026
NM_007194.4(CHEK2):c.1283C>T (p.Ser428Phe) rs137853011 0.00026
NM_014981.3(MYH15):c.616C>T (p.Gln206Ter) rs201549171 0.00026
NM_004168.4(SDHA):c.91C>T (p.Arg31Ter) rs142441643 0.00025
NM_007194.4(CHEK2):c.663C>G (p.Ile221Met) rs200451612 0.00025
NM_000426.4(LAMA2):c.4010A>G (p.His1337Arg) rs139739075 0.00024
NM_002838.5(PTPRC):c.2490G>C (p.Leu830Phe) rs146402228 0.00024
NM_015102.5(NPHP4):c.3175G>A (p.Ala1059Thr) rs202004152 0.00024
NM_001048174.2(MUTYH):c.737G>A (p.Arg246Gln) rs149866955 0.00023
NM_002528.7(NTHL1):c.835C>T (p.Gln279Ter) rs146347092 0.00023
NM_005732.4(RAD50):c.2177G>A (p.Arg726His) rs28903092 0.00023
NM_020921.4(NIN):c.5995C>T (p.Arg1999Cys) rs144624455 0.00023
NM_138713.4(NFAT5):c.2204A>T (p.Gln735Leu) rs189877263 0.00023
NM_000093.5(COL5A1):c.1637C>T (p.Ala546Val) rs557361751 0.00022
NM_001277115.2(DNAH11):c.9783G>C (p.Glu3261Asp) rs201944089 0.00022
NM_018418.5(SPATA7):c.1112T>C (p.Ile371Thr) rs150364664 0.00022
NM_000098.3(CPT2):c.1342T>C (p.Phe448Leu) rs74315297 0.00021
NM_004360.5(CDH1):c.8C>G (p.Pro3Arg) rs587782484 0.00021
NM_005476.7(GNE):c.1132G>T (p.Asp378Tyr) rs199877522 0.00021
NM_002582.4(PARN):c.1785T>G (p.Asp595Glu) rs200434143 0.00020
NM_033028.5(BBS4):c.337C>T (p.Leu113Phe) rs760909426 0.00020
NM_000051.4(ATM):c.7516A>G (p.Arg2506Gly) rs200441272 0.00019
NM_000051.4(ATM):c.8734A>G (p.Arg2912Gly) rs376676328 0.00019
NM_000081.4(LYST):c.5033T>C (p.Val1678Ala) rs151337641 0.00019
NM_000492.4(CFTR):c.3846G>A (p.Trp1282Ter) rs77010898 0.00019
NM_000535.7(PMS2):c.1243G>A (p.Val415Met) rs138387687 0.00019
NM_001164508.2(NEB):c.19675G>A (p.Val6559Ile) rs189232206 0.00019
NM_002528.7(NTHL1):c.149C>T (p.Pro50Leu) rs139165943 0.00019
NM_007194.4(CHEK2):c.1270T>C (p.Tyr424His) rs139366548 0.00019
NM_020964.3(EPG5):c.6845T>C (p.Ile2282Thr) rs201213000 0.00019
NM_022489.4(INF2):c.3103G>A (p.Gly1035Ser) rs368995122 0.00019
NM_000081.4(LYST):c.6833A>G (p.Tyr2278Cys) rs189657766 0.00018
NM_003060.4(SLC22A5):c.695C>T (p.Thr232Met) rs114269482 0.00018
NM_004370.6(COL12A1):c.5411G>A (p.Arg1804Gln) rs200091648 0.00018
NM_004370.6(COL12A1):c.5501G>A (p.Arg1834Gln) rs182768408 0.00018
NM_000059.4(BRCA2):c.5946del (p.Ser1982fs) rs80359550 0.00017
NM_000535.7(PMS2):c.2012C>T (p.Thr671Met) rs587780046 0.00017
NM_000051.4(ATM):c.7381C>T (p.Arg2461Cys) rs201314561 0.00016
NM_000283.4(PDE6B):c.2548A>G (p.Thr850Ala) rs141647790 0.00016
NM_000553.6(WRN):c.4191G>A (p.Glu1397=) rs369276959 0.00016
NM_002691.4(POLD1):c.353C>T (p.Ser118Phe) rs780604625 0.00016
NM_006371.5(CRTAP):c.866C>T (p.Pro289Leu) rs147140948 0.00016
NM_013432.5(TONSL):c.2302C>T (p.Arg768Trp) rs747619822 0.00016
NM_032043.3(BRIP1):c.2392C>T (p.Arg798Ter) rs137852986 0.00016
NM_000051.4(ATM):c.9086G>A (p.Gly3029Asp) rs201199629 0.00015
NM_000088.4(COL1A1):c.3061G>C (p.Glu1021Gln) rs139593707 0.00015
NM_000478.6(ALPL):c.526G>A (p.Ala176Thr) rs121918019 0.00015
NM_001458.5(FLNC):c.5296T>C (p.Trp1766Arg) rs751650734 0.00015
NM_001843.4(CNTN1):c.643A>G (p.Ser215Gly) rs138639141 0.00015
NM_007194.4(CHEK2):c.190G>A (p.Glu64Lys) rs141568342 0.00015
NM_016169.4(SUFU):c.1058C>T (p.Thr353Met) rs137880855 0.00015
NM_020975.6(RET):c.2522C>T (p.Pro841Leu) rs149891333 0.00015
NM_032415.7(CARD11):c.1807+3A>G rs41368548 0.00015
NM_152393.4(KLHL40):c.1746C>A (p.Asp582Glu) rs202096553 0.00015
NM_172364.5(CACNA2D4):c.2170C>T (p.Arg724Trp) rs371178386 0.00015
NM_000051.4(ATM):c.4066A>G (p.Asn1356Asp) rs147600485 0.00014
NM_000536.4(RAG2):c.1516C>T (p.Arg506Cys) rs140089249 0.00014
NM_001122769.3(LCA5):c.521G>A (p.Arg174His) rs144016257 0.00014
NM_001365536.1(SCN9A):c.1846G>A (p.Gly616Arg) rs201338643 0.00014
NM_001378030.1(CCDC78):c.436G>T (p.Val146Leu) rs148705181 0.00014
NM_002485.5(NBN):c.456G>A (p.Met152Ile) rs201816949 0.00014
NM_004329.3(BMPR1A):c.1235T>C (p.Val412Ala) rs576247658 0.00014
NM_004370.6(COL12A1):c.1471G>C (p.Glu491Gln) rs367630003 0.00014
NM_004629.2(FANCG):c.1367A>T (p.His456Leu) rs148808709 0.00014
NM_007194.4(CHEK2):c.1525C>T (p.Pro509Ser) rs587780179 0.00014
NM_000051.4(ATM):c.8560C>T (p.Arg2854Cys) rs201958469 0.00013
NM_000069.3(CACNA1S):c.1945A>C (p.Asn649His) rs760246258 0.00013
NM_000083.3(CLCN1):c.2258A>C (p.Gln753Pro) rs112282456 0.00013
NM_000393.5(COL5A2):c.4358G>A (p.Arg1453Gln) rs149064715 0.00013
NM_000465.4(BARD1):c.659T>C (p.Leu220Ser) rs138593305 0.00013
NM_001370298.3(FGD4):c.2506A>G (p.Met836Val) rs140220443 0.00013
NM_002470.4(MYH3):c.4840C>T (p.Arg1614Trp) rs141020227 0.00013
NM_003978.5(PSTPIP1):c.856A>G (p.Asn286Asp) rs377437961 0.00013
NM_004304.5(ALK):c.4795C>T (p.Pro1599Ser) rs373037272 0.00013
NM_005236.3(ERCC4):c.2395C>T (p.Arg799Trp) rs121913049 0.00013
NM_006736.6(DNAJB2):c.230-2A>G rs369661561 0.00013
NM_014989.7(RIMS1):c.5053A>G (p.Thr1685Ala) rs200035429 0.00013
NM_018979.4(WNK1):c.3188C>T (p.Thr1063Ile) rs201379287 0.00013
NM_032444.4(SLX4):c.845C>T (p.Ser282Leu) rs138618354 0.00013
NM_032790.4(ORAI1):c.763G>A (p.Val255Ile) rs376286032 0.00013
NM_001843.4(CNTN1):c.1006C>T (p.His336Tyr) rs200591895 0.00012
NM_001843.4(CNTN1):c.1024G>A (p.Val342Met) rs200139062 0.00012
NM_004360.5(CDH1):c.1223C>T (p.Ala408Val) rs138135866 0.00012
NM_025137.4(SPG11):c.4365G>C (p.Trp1455Cys) rs138103656 0.00012
NM_201384.3(PLEC):c.12647G>A (p.Arg4216His) rs151106439 0.00012
NM_203447.4(DOCK8):c.4774T>C (p.Phe1592Leu) rs200152962 0.00012
NM_000179.3(MSH6):c.650A>G (p.Asp217Gly) rs554012110 0.00011
NM_000243.3(MEFV):c.800C>T (p.Thr267Ile) rs104895081 0.00011
NM_000535.7(PMS2):c.1714G>A (p.Ala572Thr) rs63751023 0.00011
NM_001005373.4(LRSAM1):c.1046A>G (p.Gln349Arg) rs200595164 0.00011
NM_001927.4(DES):c.665G>A (p.Arg222His) rs367961979 0.00011
NM_002439.5(MSH3):c.2044G>C (p.Val682Leu) rs145657887 0.00011
NM_004655.4(AXIN2):c.2218C>T (p.Pro740Ser) rs370503213 0.00011
NM_004656.4(BAP1):c.1408G>A (p.Gly470Arg) rs576538858 0.00011
NM_005419.4(STAT2):c.109G>T (p.Val37Phe) rs144812882 0.00011
NM_006846.4(SPINK5):c.3113C>A (p.Thr1038Lys) rs370311628 0.00011
NM_014254.3(RXYLT1):c.17A>G (p.Lys6Arg) rs145516652 0.00011
NM_014314.4(RIGI):c.2728G>T (p.Asp910Tyr) rs377348789 0.00011
NM_014704.4(CEP104):c.52G>A (p.Gly18Ser) rs145413305 0.00011
NM_018671.5(UNC45A):c.641C>T (p.Ala214Val) rs199984374 0.00011
NM_025137.4(SPG11):c.328A>G (p.Asn110Asp) rs139498464 0.00011
NM_032043.3(BRIP1):c.3444C>A (p.Asp1148Glu) rs28997573 0.00011
NM_182961.4(SYNE1):c.20737C>T (p.Arg6913Cys) rs142593312 0.00011
NM_000051.4(ATM):c.6343G>A (p.Val2115Ile) rs587780634 0.00010
NM_000246.4(CIITA):c.1010C>T (p.Pro337Leu) rs147670132 0.00010
NM_000251.3(MSH2):c.128A>G (p.Tyr43Cys) rs17217723 0.00010
NM_000283.4(PDE6B):c.1540del (p.Leu514fs) rs398123298 0.00010
NM_000334.4(SCN4A):c.5401G>A (p.Ala1801Thr) rs201192904 0.00010
NM_000748.3(CHRNB2):c.1046T>C (p.Met349Thr) rs141735618 0.00010
NM_002693.3(POLG):c.3139C>T (p.Arg1047Trp) rs181860632 0.00010
NM_005732.4(RAD50):c.2548C>T (p.Arg850Cys) rs181961360 0.00010
NM_006231.4(POLE):c.6730C>T (p.Leu2244Phe) rs375741031 0.00010
NM_015072.5(TTLL5):c.1781A>G (p.Asp594Gly) rs148938066 0.00010
NM_020376.4(PNPLA2):c.85C>T (p.Leu29Phe) rs759976184 0.00010
NM_025137.4(SPG11):c.5381T>C (p.Leu1794Pro) rs201689565 0.00010
NM_201384.3(PLEC):c.3460C>T (p.Arg1154Trp) rs782544250 0.00010
NM_000051.4(ATM):c.4414T>G (p.Leu1472Val) rs539676759 0.00009
NM_000051.4(ATM):c.6475T>G (p.Cys2159Gly) rs150408832 0.00009
NM_000077.5(CDKN2A):c.325G>C (p.Ala109Pro) rs372481694 0.00009
NM_000251.3(MSH2):c.2308A>G (p.Ile770Val) rs63750684 0.00009
NM_000318.3(PEX2):c.632T>C (p.Ile211Thr) rs372938413 0.00009
NM_000465.4(BARD1):c.1127C>T (p.Ser376Leu) rs587782333 0.00009
NM_000535.7(PMS2):c.857A>G (p.Asp286Gly) rs116788608 0.00009
NM_000546.6(TP53):c.847C>T (p.Arg283Cys) rs149633775 0.00009
NM_001048174.2(MUTYH):c.650G>A (p.Arg217His) rs140342925 0.00009
NM_004168.4(SDHA):c.1055G>A (p.Arg352Gln) rs199844384 0.00009
NM_005732.4(RAD50):c.3508G>A (p.Asp1170Asn) rs397507179 0.00009
NM_007194.4(CHEK2):c.349A>G (p.Arg117Gly) rs28909982 0.00009
NM_007194.4(CHEK2):c.444+1G>A rs121908698 0.00009
NM_012193.4(FZD4):c.50T>C (p.Val17Ala) rs369596520 0.00009
NM_015909.4(NBAS):c.4031A>T (p.His1344Leu) rs201325677 0.00009
NM_018051.5(DYNC2I1):c.2905G>A (p.Val969Met) rs377727599 0.00009
NM_198253.3(TERT):c.3268G>A (p.Val1090Met) rs121918664 0.00009
NM_000093.5(COL5A1):c.3592G>A (p.Gly1198Ser) rs372499629 0.00008
NM_000093.5(COL5A1):c.4307C>T (p.Pro1436Leu) rs752334702 0.00008
NM_000539.3(RHO):c.399C>A (p.Ile133=) rs372812523 0.00008
NM_001609.4(ACADSB):c.1213C>T (p.Arg405Ter) rs200154326 0.00008
NM_004370.6(COL12A1):c.5507C>T (p.Thr1836Met) rs200108494 0.00008
NM_004655.4(AXIN2):c.2239C>T (p.His747Tyr) rs143571197 0.00008
NM_005359.6(SMAD4):c.852A>G (p.Gln284=) rs144378484 0.00008
NM_005476.7(GNE):c.1651A>G (p.Ile551Val) rs754313408 0.00008
NM_006904.7(PRKDC):c.10033C>A (p.Pro3345Thr) rs374825096 0.00008
NM_015178.3(RHOBTB2):c.1681G>A (p.Gly561Ser) rs372306607 0.00008
NM_020631.6(PLEKHG5):c.571C>T (p.Arg191Trp) rs183712624 0.00008
NM_021629.4(GNB4):c.44G>A (p.Arg15Gln) rs138187021 0.00008
NM_025137.4(SPG11):c.5599G>A (p.Glu1867Lys) rs372419484 0.00008
NM_138387.4(G6PC3):c.727G>A (p.Val243Met) rs140785361 0.00008
NM_000089.4(COL1A2):c.1036-3T>C rs370275593 0.00007
NM_000089.4(COL1A2):c.2645G>A (p.Arg882His) rs140368271 0.00007
NM_000090.4(COL3A1):c.472T>A (p.Tyr158Asn) rs756125442 0.00007
NM_000455.5(STK11):c.1127A>C (p.Glu376Ala) rs373888280 0.00007
NM_000466.3(PEX1):c.3416G>A (p.Gly1139Glu) rs750447182 0.00007
NM_000535.7(PMS2):c.2559C>G (p.Ile853Met) rs371673459 0.00007
NM_001004334.4(GPR179):c.5872T>C (p.Cys1958Arg) rs368927813 0.00007
NM_001048174.2(MUTYH):c.1400G>A (p.Arg467His) rs144111588 0.00007
NM_001243925.2(MAPKAPK3):c.824A>G (p.Glu275Gly) rs377010404 0.00007
NM_002693.3(POLG):c.2051A>G (p.Asn684Ser) rs202244328 0.00007
NM_004260.4(RECQL4):c.2837G>A (p.Arg946His) rs773154902 0.00007
NM_006015.6(ARID1A):c.268A>G (p.Ser90Gly) rs752026201 0.00007
NM_012275.3(IL36RN):c.436A>G (p.Ile146Val) rs202059991 0.00007
NM_018972.4(GDAP1):c.1006G>T (p.Ala336Ser) rs140811185 0.00007
NM_000051.4(ATM):c.115A>G (p.Thr39Ala) rs779297339 0.00006
NM_000051.4(ATM):c.610G>A (p.Gly204Arg) rs147915571 0.00006
NM_000077.5(CDKN2A):c.146T>C (p.Ile49Thr) rs199907548 0.00006
NM_000190.4(HMBS):c.500G>A (p.Arg167Gln) rs118204095 0.00006
NM_000251.3(MSH2):c.1321A>C (p.Thr441Pro) rs587779086 0.00006
NM_000334.4(SCN4A):c.1354G>A (p.Glu452Lys) rs372631097 0.00006
NM_000478.6(ALPL):c.1250A>G (p.Asn417Ser) rs121918014 0.00006
NM_000535.7(PMS2):c.353+6A>G rs376449640 0.00006
NM_000540.3(RYR1):c.6891+3G>T rs373333757 0.00006
NM_001042492.3(NF1):c.4526G>A (p.Arg1509His) rs546073780 0.00006
NM_001130823.3(DNMT1):c.3262G>A (p.Val1088Ile) rs776461147 0.00006
NM_001177316.2(SLC34A3):c.704C>T (p.Ala235Val) rs756672024 0.00006
NM_001267550.2(TTN):c.106537A>G (p.Lys35513Glu) rs551063889 0.00006
NM_001349253.2(SCN11A):c.2458A>T (p.Asn820Tyr) rs148401428 0.00006
NM_002691.4(POLD1):c.1040C>T (p.Pro347Leu) rs2230243 0.00006
NM_002691.4(POLD1):c.1562G>A (p.Arg521Gln) rs143076166 0.00006
NM_002691.4(POLD1):c.934G>A (p.Val312Met) rs371612922 0.00006
NM_004369.4(COL6A3):c.2306C>T (p.Ala769Val) rs753966526 0.00006
NM_004655.4(AXIN2):c.563A>G (p.Gln188Arg) rs149000772 0.00006
NM_005732.4(RAD50):c.610A>G (p.Lys204Glu) rs202197835 0.00006
NM_005751.5(AKAP9):c.9943A>G (p.Thr3315Ala) rs747162821 0.00006
NM_006231.4(POLE):c.4901G>A (p.Arg1634His) rs760149463 0.00006
NM_013296.5(GPSM2):c.1661C>A (p.Ser554Ter) rs145191476 0.00006
NM_014285.7(EXOSC2):c.616T>C (p.Tyr206His) rs373884838 0.00006
NM_015450.3(POT1):c.1416T>G (p.Ser472Arg) rs146643991 0.00006
NM_015915.5(ATL1):c.1556G>A (p.Ser519Asn) rs751861796 0.00006
NM_022168.4(IFIH1):c.2893G>A (p.Gly965Ser) rs202009944 0.00006
NM_030962.4(SBF2):c.3989T>C (p.Val1330Ala) rs147350002 0.00006
NM_145698.5(ACBD5):c.1285G>A (p.Asp429Asn) rs144860164 0.00006
NM_152564.5(VPS13B):c.1590G>A (p.Met530Ile) rs200519753 0.00006
NM_152564.5(VPS13B):c.2075G>A (p.Arg692Gln) rs371500701 0.00006
NM_198576.4(AGRN):c.3569G>A (p.Arg1190His) rs149762107 0.00006
NM_205836.3(FBXO38):c.11G>A (p.Arg4Gln) rs148337492 0.00006
NM_000057.4(BLM):c.3558+1G>T rs148969222 0.00005
NM_000083.3(CLCN1):c.2693G>A (p.Gly898Glu) rs149188892 0.00005
NM_000171.4(GLRA1):c.448C>T (p.Arg150Trp) rs374834686 0.00005
NM_000249.4(MLH1):c.1489C>T (p.Arg497Trp) rs200830026 0.00005
NM_000302.4(PLOD1):c.702C>G (p.Asp234Glu) rs566018612 0.00005
NM_000350.3(ABCA4):c.4594G>A (p.Asp1532Asn) rs62642574 0.00005
NM_000465.4(BARD1):c.946T>G (p.Leu316Val) rs587782325 0.00005
NM_000466.3(PEX1):c.3623G>A (p.Arg1208Gln) rs767337582 0.00005
NM_000540.3(RYR1):c.3043C>T (p.Arg1015Cys) rs139006437 0.00005
NM_000548.5(TSC2):c.4225C>T (p.Arg1409Trp) rs45517333 0.00005
NM_001164508.2(NEB):c.4469T>C (p.Met1490Thr) rs554984749 0.00005
NM_001166114.2(PNPLA6):c.4003C>T (p.Pro1335Ser) rs151264767 0.00005
NM_001194998.2(CEP152):c.1321G>A (p.Gly441Arg) rs1162409652 0.00005
NM_001365536.1(SCN9A):c.2299C>A (p.Pro767Thr) rs199715588 0.00005
NM_001558.4(IL10RA):c.712A>G (p.Ile238Val) rs200227183 0.00005
NM_002528.7(NTHL1):c.763C>T (p.Arg255Cys) rs779992803 0.00005
NM_002693.3(POLG):c.3425G>A (p.Arg1142Gln) rs536732038 0.00005
NM_004393.6(DAG1):c.185C>T (p.Pro62Leu) rs375938350 0.00005
NM_005732.4(RAD50):c.3230G>A (p.Arg1077Gln) rs104895051 0.00005
NM_006206.6(PDGFRA):c.3179T>A (p.Ile1060Asn) rs774522904 0.00005
NM_006231.4(POLE):c.844C>T (p.Pro282Ser) rs138207610 0.00005
NM_014141.6(CNTNAP2):c.2186C>T (p.Ala729Val) rs758221358 0.00005
NM_015450.3(POT1):c.526G>A (p.Gly176Arg) rs774576173 0.00005
NM_016203.4(PRKAG2):c.593C>T (p.Pro198Leu) rs41317142 0.00005
NM_020070.4(IGLL1):c.221G>A (p.Arg74His) rs368706509 0.00005
NM_020822.3(KCNT1):c.32G>A (p.Gly11Glu) rs1003586835 0.00005
NM_022124.6(CDH23):c.158C>A (p.Thr53Asn) rs761428295 0.00005
NM_025137.4(SPG11):c.733_734del (p.Met245fs) rs312262720 0.00005
NM_033409.4(SLC52A3):c.890C>T (p.Pro297Leu) rs201990981 0.00005
NM_139076.3(ABRAXAS1):c.1139A>G (p.Asp380Gly) rs587780264 0.00005
NM_181882.3(PRX):c.848T>G (p.Val283Gly) rs776556523 0.00005
NM_198576.4(AGRN):c.2647G>A (p.Gly883Ser) rs145162376 0.00005
NM_201384.3(PLEC):c.9014G>A (p.Arg3005His) rs369581930 0.00005
NM_203446.3(SYNJ1):c.2250T>A (p.Asn750Lys) rs570501803 0.00005
NM_000051.4(ATM):c.5932G>T (p.Glu1978Ter) rs587779852 0.00004
NM_000051.4(ATM):c.8968G>A (p.Glu2990Lys) rs1800558 0.00004
NM_000179.3(MSH6):c.1402C>T (p.Arg468Cys) rs369456858 0.00004
NM_000190.4(HMBS):c.992C>T (p.Ala331Val) rs770086296 0.00004
NM_000249.4(MLH1):c.1148T>C (p.Met383Thr) rs141344760 0.00004
NM_000249.4(MLH1):c.299G>A (p.Arg100Gln) rs63750266 0.00004
NM_000249.4(MLH1):c.808A>G (p.Thr270Ala) rs371302926 0.00004
NM_000256.3(MYBPC3):c.3330+2T>G rs387906397 0.00004
NM_000371.4(TTR):c.148G>A (p.Val50Met) rs28933979 0.00004
NM_000465.4(BARD1):c.1877A>G (p.Asn626Ser) rs587781443 0.00004
NM_000465.4(BARD1):c.97G>C (p.Ala33Pro) rs587782465 0.00004
NM_000535.7(PMS2):c.2356C>A (p.Leu786Met) rs576055272 0.00004
NM_000540.3(RYR1):c.6671G>A (p.Arg2224His) rs537994744 0.00004
NM_000553.6(WRN):c.197C>T (p.Ser66Leu) rs756575284 0.00004
NM_000747.3(CHRNB1):c.516C>G (p.Tyr172Ter) rs201033437 0.00004
NM_001048174.2(MUTYH):c.1130C>T (p.Pro377Leu) rs529008617 0.00004
NM_001048174.2(MUTYH):c.631G>A (p.Val211Ile) rs759295912 0.00004
NM_001166114.2(PNPLA6):c.1430C>T (p.Ser477Leu) rs140929996 0.00004
NM_001267550.2(TTN):c.34930+2T>C rs749252830 0.00004
NM_001365536.1(SCN9A):c.1921A>T (p.Asn641Tyr) rs121908918 0.00004
NM_001365536.1(SCN9A):c.2719C>T (p.Arg907Trp) rs202152511 0.00004
NM_001365999.1(SZT2):c.9866G>T (p.Gly3289Val) rs371736872 0.00004
NM_001367823.1(ARHGEF18):c.1076C>T (p.Pro359Leu) rs751248837 0.00004
NM_001370298.3(FGD4):c.1586G>A (p.Ser529Asn) rs781528826 0.00004
NM_001370466.1(NOD2):c.1198C>T (p.Pro400Ser) rs760982375 0.00004
NM_001374736.1(DST):c.17593C>T (p.Arg5865Trp) rs766911461 0.00004
NM_001376.5(DYNC1H1):c.2869-3C>T rs750614475 0.00004
NM_001848.3(COL6A1):c.1721G>A (p.Arg574Gln) rs201227573 0.00004
NM_002528.7(NTHL1):c.445C>T (p.Arg149Trp) rs376048896 0.00004
NM_002661.5(PLCG2):c.502A>G (p.Thr168Ala) rs753974933 0.00004
NM_002691.4(POLD1):c.511G>T (p.Ala171Ser) rs748486492 0.00004
NM_004168.4(SDHA):c.313-7T>C rs201972549 0.00004
NM_004360.5(CDH1):c.2348C>T (p.Thr783Ile) rs876658467 0.00004
NM_004519.4(KCNQ3):c.1216G>A (p.Val406Ile) rs144474368 0.00004
NM_004523.4(KIF11):c.2836C>T (p.His946Tyr) rs201290831 0.00004
NM_004946.3(DOCK2):c.1288C>G (p.Leu430Val) rs370264550 0.00004
NM_004946.3(DOCK2):c.1349T>C (p.Met450Thr) rs759775916 0.00004
NM_005026.5(PIK3CD):c.2347+6G>A rs368607726 0.00004
NM_005159.5(ACTC1):c.623G>A (p.Arg208His) rs142839840 0.00004
NM_005263.5(GFI1):c.79C>T (p.Leu27Phe) rs1658376438 0.00004
NM_005585.5(SMAD6):c.776T>C (p.Val259Ala) rs1049275389 0.00004
NM_014244.5(ADAMTS2):c.599C>T (p.Ala200Val) rs749842975 0.00004
NM_014956.5(CEP164):c.2854G>A (p.Ala952Thr) rs773981726 0.00004
NM_015087.5(SPART):c.560A>G (p.Tyr187Cys) rs375284717 0.00004
NM_022041.4(GAN):c.75G>A (p.Glu25=) rs754548795 0.00004
NM_024675.4(PALB2):c.2674G>A (p.Glu892Lys) rs45476495 0.00004
NM_052845.4(MMAB):c.402G>A (p.Ser134=) rs756766385 0.00004
NM_152443.3(RDH12):c.295C>A (p.Leu99Ile) rs28940315 0.00004
NM_198053.3(CD247):c.300G>A (p.Pro100=) rs541120315 0.00004
NM_000051.4(ATM):c.2222A>G (p.Tyr741Cys) rs878853492 0.00003
NM_000052.7(ATP7A):c.4424A>G (p.Asn1475Ser) rs782774219 0.00003
NM_000059.4(BRCA2):c.4357A>G (p.Lys1453Glu) rs397507330 0.00003
NM_000059.4(BRCA2):c.8113A>G (p.Ser2705Gly) rs756105620 0.00003
NM_000071.3(CBS):c.374G>A (p.Arg125Gln) rs781444670 0.00003
NM_000081.4(LYST):c.1766A>G (p.Lys589Arg) rs200812713 0.00003
NM_000090.4(COL3A1):c.2038C>T (p.Pro680Ser) rs372027308 0.00003
NM_000093.5(COL5A1):c.1304C>T (p.Pro435Leu) rs772379819 0.00003
NM_000135.4(FANCA):c.1046C>T (p.Ala349Val) rs142620413 0.00003
NM_000143.4(FH):c.521C>G (p.Pro174Arg) rs199822819 0.00003
NM_000180.4(GUCY2D):c.2595del (p.Lys866fs) rs1200134985 0.00003
NM_000245.4(MET):c.4007G>A (p.Arg1336Gln) rs369312680 0.00003
NM_000262.3(NAGA):c.487G>A (p.Glu163Lys) rs372458856 0.00003
NM_000263.4(NAGLU):c.848C>T (p.Pro283Leu) rs750625891 0.00003
NM_000264.5(PTCH1):c.3247G>A (p.Val1083Met) rs202052415 0.00003
NM_000314.8(PTEN):c.-844T>C rs587779995 0.00003
NM_000335.5(SCN5A):c.1712G>T (p.Ser571Ile) rs199473126 0.00003
NM_000335.5(SCN5A):c.5948C>T (p.Thr1983Ile) rs778230530 0.00003
NM_000455.5(STK11):c.1226G>A (p.Arg409Gln) rs587782364 0.00003
NM_000532.5(PCCB):c.1087T>C (p.Ser363Pro) rs770341883 0.00003
NM_000535.7(PMS2):c.883C>T (p.Arg295Trp) rs182246929 0.00003
NM_000540.3(RYR1):c.13069C>A (p.Leu4357Met) rs1236057233 0.00003
NM_001032386.2(SUOX):c.1190G>A (p.Arg397Gln) rs980919172 0.00003
NM_001035.3(RYR2):c.5825T>G (p.Phe1942Cys) rs397516546 0.00003
NM_001042492.3(NF1):c.3604G>T (p.Ala1202Ser) rs146641724 0.00003
NM_001126049.2(KLLN):c.-938A>T rs786204921 0.00003
NM_001164508.2(NEB):c.23083C>A (p.Pro7695Thr) rs757006805 0.00003
NM_001195263.2(PDZD7):c.2515C>T (p.Pro839Ser) rs1027527004 0.00003
NM_001197104.2(KMT2A):c.7556G>A (p.Arg2519Gln) rs183240996 0.00003
NM_001258392.3(CLPB):c.713C>T (p.Thr238Met) rs200032855 0.00003
NM_001267550.2(TTN):c.49648+2del rs727504851 0.00003
NM_001346754.2(PIGW):c.281T>A (p.Leu94Ter) rs770634248 0.00003
NM_001349253.2(SCN11A):c.5063C>T (p.Ala1688Val) rs79184444 0.00003
NM_001367624.2(ZNF469):c.713C>T (p.Ala238Val) rs896312497 0.00003
NM_001370466.1(NOD2):c.947T>C (p.Leu316Pro) rs369732140 0.00003
NM_001382567.1(STIM1):c.1382T>C (p.Met461Thr) rs1444907403 0.00003
NM_001385125.1(OPN1SW):c.173G>A (p.Arg58His) rs764582600 0.00003
NM_001399.5(EDA):c.1094T>C (p.Val365Ala) rs397516654 0.00003
NM_001903.5(CTNNA1):c.891C>T (p.Ser297=) rs753897960 0.00003
NM_002528.7(NTHL1):c.169C>T (p.Arg57Cys) rs767591879 0.00003
NM_002529.4(NTRK1):c.2242C>T (p.Arg748Trp) rs778520978 0.00003
NM_002691.4(POLD1):c.2470A>G (p.Met824Val) rs779675467 0.00003
NM_002691.4(POLD1):c.257C>T (p.Ala86Val) rs148040399 0.00003
NM_002878.4(RAD51D):c.620C>T (p.Ser207Leu) rs370228071 0.00003
NM_003002.4(SDHD):c.158C>T (p.Pro53Leu) rs149516118 0.00003
NM_004006.3(DMD):c.3889G>T (p.Gly1297Cys) rs941573844 0.00003
NM_004329.3(BMPR1A):c.1513G>A (p.Ala505Thr) rs369966011 0.00003
NM_004360.5(CDH1):c.2074G>A (p.Ala692Thr) rs376854556 0.00003
NM_004371.4(COPA):c.3533G>A (p.Arg1178His) rs373521245 0.00003
NM_004393.6(DAG1):c.2576A>G (p.Asn859Ser) rs754079735 0.00003
NM_005333.5(HCCS):c.334G>A (p.Ala112Thr) rs986120900 0.00003
NM_005732.4(RAD50):c.2891A>T (p.Tyr964Phe) rs377466333 0.00003
NM_006206.6(PDGFRA):c.899A>C (p.Lys300Thr) rs368648130 0.00003
NM_007194.4(CHEK2):c.283C>T (p.Arg95Ter) rs587781269 0.00003
NM_007194.4(CHEK2):c.917G>C (p.Gly306Ala) rs587780192 0.00003
NM_007294.4(BRCA1):c.181T>G (p.Cys61Gly) rs28897672 0.00003
NM_012210.4(TRIM32):c.440G>A (p.Arg147Gln) rs552938001 0.00003
NM_012470.4(TNPO3):c.2326A>G (p.Ile776Val) rs368873021 0.00003
NM_014244.5(ADAMTS2):c.2530G>A (p.Asp844Asn) rs764687535 0.00003
NM_014714.4(IFT140):c.4041-5G>A rs754813435 0.00003
NM_015046.7(SETX):c.2411T>C (p.Leu804Ser) rs201096140 0.00003
NM_015046.7(SETX):c.2755G>C (p.Val919Leu) rs561190371 0.00003
NM_015404.4(WHRN):c.2261C>T (p.Ser754Leu) rs768714315 0.00003
NM_017617.5(NOTCH1):c.6481C>T (p.Pro2161Ser) rs201518848 0.00003
NM_020975.6(RET):c.1998G>T (p.Lys666Asn) rs146646971 0.00003
NM_021625.5(TRPV4):c.37G>T (p.Gly13Trp) rs763302555 0.00003
NM_024675.4(PALB2):c.2743G>A (p.Ala915Thr) rs374736398 0.00003
NM_024989.4(PGAP1):c.1558A>G (p.Ile520Val) rs201002323 0.00003
NM_032043.3(BRIP1):c.2469G>T (p.Arg823Ser) rs587780239 0.00003
NM_145199.3(LIPT1):c.587C>T (p.Pro196Leu) rs746115042 0.00003
NM_201253.3(CRB1):c.3307G>A (p.Gly1103Arg) rs62636275 0.00003
NC_000011.10:g.47337730dup rs397515963 0.00002
NM_000038.6(APC):c.3437G>A (p.Arg1146His) rs763486328 0.00002
NM_000038.6(APC):c.5363G>A (p.Arg1788His) rs201472075 0.00002
NM_000059.4(BRCA2):c.3137A>G (p.Glu1046Gly) rs80358559 0.00002
NM_000059.4(BRCA2):c.5167A>G (p.Thr1723Ala) rs80358742 0.00002
NM_000059.4(BRCA2):c.5428G>A (p.Val1810Ile) rs80358766 0.00002
NM_000059.4(BRCA2):c.5975C>T (p.Ser1992Leu) rs80358830 0.00002
NM_000083.3(CLCN1):c.517C>T (p.Leu173Phe) rs1554434802 0.00002
NM_000093.5(COL5A1):c.3040C>T (p.Arg1014Cys) rs780601499 0.00002
NM_000135.4(FANCA):c.1004A>C (p.Lys335Thr) rs752532498 0.00002
NM_000143.4(FH):c.698G>A (p.Arg233His) rs121913123 0.00002
NM_000251.3(MSH2):c.220A>C (p.Asn74His) rs150548839 0.00002
NM_000251.3(MSH2):c.2379G>T (p.Gln793His) rs767520406 0.00002
NM_000264.5(PTCH1):c.4172G>A (p.Arg1391Gln) rs773676486 0.00002
NM_000383.4(AIRE):c.1334G>A (p.Arg445Gln) rs753878067 0.00002
NM_000527.5(LDLR):c.551G>A (p.Cys184Tyr) rs121908039 0.00002
NM_000540.3(RYR1):c.5962G>A (p.Ala1988Thr) rs763360938 0.00002
NM_000546.6(TP53):c.784G>A (p.Gly262Ser) rs200579969 0.00002
NM_000551.4(VHL):c.439A>G (p.Ile147Val) rs1057517560 0.00002
NM_001003800.2(BICD2):c.641G>A (p.Arg214His) rs373760993 0.00002
NM_001004334.4(GPR179):c.2605C>T (p.Arg869Trp) rs576833922 0.00002
NM_001048174.2(MUTYH):c.809G>A (p.Ser270Asn) rs757080586 0.00002
NM_001128225.3(SLC39A13):c.35C>T (p.Ala12Val) rs556023069 0.00002
NM_001145252.3(CFP):c.643G>A (p.Glu215Lys) rs1203449452 0.00002
NM_001358530.2(MOCS1):c.430C>T (p.Arg144Trp) rs767641674 0.00002
NM_001365536.1(SCN9A):c.294C>A (p.Phe98Leu) rs199824489 0.00002
NM_001376.5(DYNC1H1):c.13414G>A (p.Gly4472Ser) rs199692678 0.00002
NM_001563.4(IMPG1):c.332G>A (p.Arg111Gln) rs200194885 0.00002
NM_001848.3(COL6A1):c.2963C>G (p.Thr988Ser) rs746046225 0.00002
NM_001849.4(COL6A2):c.2977C>T (p.Arg993Cys) rs532656197 0.00002
NM_002109.6(HARS1):c.1123C>T (p.Arg375Cys) rs774682373 0.00002
NM_002299.4(LCT):c.4198G>A (p.Gly1400Ser) rs988407821 0.00002
NM_002334.4(LRP4):c.2861A>G (p.Tyr954Cys) rs775608977 0.00002
NM_002691.4(POLD1):c.2458G>A (p.Ala820Thr) rs753609023 0.00002
NM_002691.4(POLD1):c.367C>T (p.Pro123Ser) rs761127022 0.00002
NM_003680.4(YARS1):c.1042+3A>C rs772446297 0.00002
NM_004082.5(DCTN1):c.2477C>T (p.Thr826Met) rs766585070 0.00002
NM_004168.4(SDHA):c.1652C>T (p.Thr551Met) rs181238392 0.00002
NM_004320.6(ATP2A1):c.2343G>A (p.Leu781=) rs886051883 0.00002
NM_004320.6(ATP2A1):c.971G>A (p.Arg324His) rs751166692 0.00002
NM_004369.4(COL6A3):c.3790G>A (p.Val1264Met) rs541703064 0.00002
NM_005359.6(SMAD4):c.677C>T (p.Ala226Val) rs539739051 0.00002
NM_005732.4(RAD50):c.3229C>T (p.Arg1077Ter) rs368980595 0.00002
NM_005732.4(RAD50):c.832C>T (p.Arg278Ter) rs766315644 0.00002
NM_006231.4(POLE):c.1993C>T (p.Arg665Trp) rs367902268 0.00002
NM_007194.4(CHEK2):c.1053G>T (p.Glu351Asp) rs587782268 0.00002
NM_015102.5(NPHP4):c.3721G>A (p.Val1241Ile) rs535789951 0.00002
NM_017739.4(POMGNT1):c.1457G>A (p.Arg486Gln) rs753030030 0.00002
NM_020232.5(PSMG2):c.180A>G (p.Pro60=) rs1056051588 0.00002
NM_020800.3(IFT80):c.2225T>A (p.Leu742His) rs763284318 0.00002
NM_021102.4(SPINT2):c.553C>T (p.Arg185Cys) rs781030322 0.00002
NM_022124.6(CDH23):c.4490T>C (p.Val1497Ala) rs749978603 0.00002
NM_022168.4(IFIH1):c.730T>C (p.Ser244Pro) rs753380568 0.00002
NM_024675.4(PALB2):c.2167_2168del (p.Met723fs) rs587776416 0.00002
NM_024675.4(PALB2):c.3113G>A (p.Trp1038Ter) rs180177132 0.00002
NM_024741.3(ZNF408):c.925T>G (p.Leu309Val) rs368603073 0.00002
NM_024884.3(L2HGDH):c.1032T>G (p.Ser344Arg) rs1273518496 0.00002
NM_025137.4(SPG11):c.5696G>A (p.Arg1899Gln) rs768303307 0.00002
NM_058216.3(RAD51C):c.224dup (p.Tyr75Ter) rs730881939 0.00002
NM_182914.3(SYNE2):c.20039G>A (p.Arg6680Gln) rs761684738 0.00002
NM_201384.3(PLEC):c.1970G>A (p.Ser657Asn) rs782591543 0.00002
NM_206933.4(USH2A):c.6133C>T (p.His2045Tyr) rs749333215 0.00002
NM_206933.4(USH2A):c.6883G>A (p.Gly2295Arg) rs768253909 0.00002
NM_000026.4(ADSL):c.1235C>T (p.Ser412Phe) rs571597579 0.00001
NM_000038.6(APC):c.1743+5C>T rs876658386 0.00001
NM_000038.6(APC):c.323G>A (p.Gly108Glu) rs1114167456 0.00001
NM_000051.4(ATM):c.1352G>A (p.Arg451His) rs554805703 0.00001
NM_000051.4(ATM):c.170G>A (p.Trp57Ter) rs587779818 0.00001
NM_000051.4(ATM):c.2849T>G (p.Leu950Arg) rs786203054 0.00001
NM_000051.4(ATM):c.2T>C (p.Met1Thr) rs786203606 0.00001
NM_000051.4(ATM):c.3663G>A (p.Trp1221Ter) rs864622490 0.00001
NM_000051.4(ATM):c.496+3A>G rs876658311 0.00001
NM_000051.4(ATM):c.5063T>C (p.Ile1688Thr) rs199836342 0.00001
NM_000051.4(ATM):c.7463G>A (p.Cys2488Tyr) rs774281788 0.00001
NM_000051.4(ATM):c.7630-2A>C rs587779866 0.00001
NM_000051.4(ATM):c.8983C>A (p.Leu2995Ile) rs142322668 0.00001
NM_000053.4(ATP7B):c.4319G>A (p.Arg1440Gln) rs201483366 0.00001
NM_000059.4(BRCA2):c.1466C>G (p.Ser489Cys) rs587782535 0.00001
NM_000059.4(BRCA2):c.3785C>G (p.Ser1262Ter) rs80358620 0.00001
NM_000059.4(BRCA2):c.3904A>G (p.Thr1302Ala) rs543339423 0.00001
NM_000059.4(BRCA2):c.5225A>T (p.Asn1742Ile) rs756463217 0.00001
NM_000059.4(BRCA2):c.5645C>A (p.Ser1882Ter) rs80358785 0.00001
NM_000059.4(BRCA2):c.6289A>G (p.Thr2097Ala) rs587781965 0.00001
NM_000059.4(BRCA2):c.7090G>A (p.Glu2364Lys) rs80358940 0.00001
NM_000059.4(BRCA2):c.7739A>G (p.Gln2580Arg) rs1064795508 0.00001
NM_000083.3(CLCN1):c.1863A>G (p.Thr621=) rs369099862 0.00001
NM_000083.3(CLCN1):c.950G>A (p.Arg317Gln) rs80356702 0.00001
NM_000090.4(COL3A1):c.4003G>A (p.Gly1335Ser) rs751807135 0.00001
NM_000093.5(COL5A1):c.1157C>T (p.Ser386Phe) rs773041897 0.00001
NM_000093.5(COL5A1):c.2809G>A (p.Gly937Arg) rs1330022009 0.00001
NM_000094.4(COL7A1):c.3287T>A (p.Leu1096Gln) rs1474365354 0.00001
NM_000094.4(COL7A1):c.8684G>A (p.Arg2895Gln) rs147911102 0.00001
NM_000101.4(CYBA):c.193A>G (p.Met65Val) rs1567609300 0.00001
NM_000136.3(FANCC):c.572T>C (p.Ile191Thr) rs767302089 0.00001
NM_000136.3(FANCC):c.76T>A (p.Ser26Thr) rs1165230596 0.00001
NM_000138.5(FBN1):c.1373A>G (p.Tyr458Cys) rs749133312 0.00001
NM_000138.5(FBN1):c.8418C>G (p.Ile2806Met) rs1480715909 0.00001
NM_000159.4(GCDH):c.416C>T (p.Ser139Leu) rs139851890 0.00001
NM_000179.3(MSH6):c.1565A>G (p.Gln522Arg) rs63751009 0.00001
NM_000222.3(KIT):c.2264C>T (p.Ala755Val) rs758252647 0.00001
NM_000245.4(MET):c.1357G>A (p.Ala453Thr) rs1793019219 0.00001
NM_000245.4(MET):c.2432T>A (p.Leu811Gln) rs1554396554 0.00001
NM_000249.4(MLH1):c.1897-7C>T rs373078652 0.00001
NM_000249.4(MLH1):c.2162A>G (p.Tyr721Cys) rs587778986 0.00001
NM_000251.3(MSH2):c.1175A>T (p.Lys392Met) rs61756465 0.00001
NM_000251.3(MSH2):c.1927G>A (p.Glu643Lys) rs374840361 0.00001
NM_000251.3(MSH2):c.242G>A (p.Ser81Asn) rs1064793491 0.00001
NM_000251.3(MSH2):c.566C>G (p.Ala189Gly) rs141021599 0.00001
NM_000256.3(MYBPC3):c.3197C>G (p.Pro1066Arg) rs2095879154 0.00001
NM_000257.4(MYH7):c.2681A>G (p.Glu894Gly) rs397516161 0.00001
NM_000334.4(SCN4A):c.3917G>C (p.Gly1306Ala) rs80338792 0.00001
NM_000335.5(SCN5A):c.4054G>A (p.Val1352Met) rs199473233 0.00001
NM_000383.4(AIRE):c.892G>A (p.Glu298Lys) rs763636007 0.00001
NM_000388.4(CASR):c.2278A>T (p.Ile760Phe) rs1453953571 0.00001
NM_000393.5(COL5A2):c.2648C>A (p.Ser883Tyr) rs773515722 0.00001
NM_000393.5(COL5A2):c.4411C>T (p.Arg1471Cys) rs1430667498 0.00001
NM_000455.5(STK11):c.841C>A (p.Pro281Thr) rs377208033 0.00001
NM_000455.5(STK11):c.971C>T (p.Pro324Leu) rs367807476 0.00001
NM_000465.4(BARD1):c.1448A>G (p.His483Arg) rs587781874 0.00001
NM_000465.4(BARD1):c.1808C>A (p.Thr603Lys) rs730881421 0.00001
NM_000465.4(BARD1):c.1868G>A (p.Gly623Glu) rs587782252 0.00001
NM_000465.4(BARD1):c.673G>T (p.Glu225Ter) rs1064793049 0.00001
NM_000478.6(ALPL):c.484G>A (p.Gly162Ser) rs760029254 0.00001
NM_000527.5(LDLR):c.1285G>A (p.Val429Met) rs28942078 0.00001
NM_000530.8(MPZ):c.662C>T (p.Ala221Val) rs1040557288 0.00001
NM_000535.7(PMS2):c.2567T>G (p.Leu856Arg) rs587782342 0.00001
NM_000535.7(PMS2):c.608C>G (p.Thr203Ser) rs779946576 0.00001
NM_000539.3(RHO):c.551A>G (p.Gln184Arg) rs1402468701 0.00001
NM_000540.3(RYR1):c.1553T>C (p.Val518Ala) rs1195513704 0.00001
NM_000540.3(RYR1):c.3145G>A (p.Gly1049Ser) rs990842315 0.00001
NM_000540.3(RYR1):c.82C>T (p.Leu28Phe) rs1242495143 0.00001
NM_000553.6(WRN):c.3094T>C (p.Ser1032Pro) rs1802631623 0.00001
NM_000553.6(WRN):c.919A>T (p.Thr307Ser) rs1002222882 0.00001
NM_000629.3(IFNAR1):c.358T>C (p.Phe120Leu) rs2083289688 0.00001
NM_001005361.3(DNM2):c.2356G>T (p.Gly786Cys) rs1555717200 0.00001
NM_001006658.3(CR2):c.668A>G (p.Asn223Ser) rs374710389 0.00001
NM_001035.3(RYR2):c.13661T>C (p.Ile4554Thr) rs1234650666 0.00001
NM_001037.5(SCN1B):c.388G>A (p.Glu130Lys) rs1351632820 0.00001
NM_001042492.3(NF1):c.2159G>A (p.Arg720Gln) rs1350468182 0.00001
NM_001048174.2(MUTYH):c.386C>T (p.Pro129Leu) rs777184451 0.00001
NM_001081.4(CUBN):c.1022A>G (p.Gln341Arg) rs149517557 0.00001
NM_001083926.2(ASRGL1):c.13G>A (p.Val5Ile) rs1186341508 0.00001
NM_001111125.3(IQSEC2):c.3314A>G (p.Asn1105Ser) rs782624844 0.00001
NM_001113378.2(FANCI):c.3918T>G (p.Asn1306Lys) rs561190476 0.00001
NM_001130009.3(GEN1):c.1623A>G (p.Gln541=) rs916698138 0.00001
NM_001134363.3(RBM20):c.2382A>C (p.Arg794Ser) rs999008497 0.00001
NM_001164508.2(NEB):c.21734A>G (p.Asn7245Ser) rs751872533 0.00001
NM_001184.4(ATR):c.7220G>A (p.Arg2407His) rs778835776 0.00001
NM_001267550.2(TTN):c.92905C>T (p.Arg30969Trp) rs754767262 0.00001
NM_001271.4(CHD2):c.557T>C (p.Val186Ala) rs760795656 0.00001
NM_001277115.2(DNAH11):c.8746C>T (p.Gln2916Ter) rs797045085 0.00001
NM_001291303.3(FAT4):c.3135C>T (p.Gly1045=) rs778916665 0.00001
NM_001303256.3(MORC2):c.1298C>G (p.Ala433Gly) rs1370510062 0.00001
NM_001364905.1(LRBA):c.5293G>A (p.Gly1765Arg) rs368450966 0.00001
NM_001365536.1(SCN9A):c.4128T>C (p.Val1376=) rs1413202256 0.00001
NM_001365536.1(SCN9A):c.4778T>C (p.Met1593Thr) rs754401649 0.00001
NM_001370259.2(MEN1):c.1354C>T (p.Arg452Trp) rs863224810 0.00001
NM_001374736.1(DST):c.14024G>A (p.Gly4675Asp) rs748551099 0.00001
NM_001376.5(DYNC1H1):c.13777G>A (p.Val4593Ile) rs750566844 0.00001
NM_001377.3(DYNC2H1):c.466T>A (p.Leu156Ile) rs765931519 0.00001
NM_001378454.1(ALMS1):c.11284G>A (p.Glu3762Lys) rs1243181452 0.00001
NM_001387283.1(SMARCA4):c.4255C>T (p.Arg1419Cys) rs1056234449 0.00001
NM_001478.5(B4GALNT1):c.1088C>G (p.Ala363Gly) rs1344371363 0.00001
NM_001605.3(AARS1):c.726G>A (p.Met242Ile) rs780360628 0.00001
NM_001613.4(ACTA2):c.616+6G>A rs1270669606 0.00001
NM_001723.7(DST):c.4460T>A (p.Val1487Glu) rs1236815487 0.00001
NM_001844.5(COL2A1):c.2638G>A (p.Val880Met) rs886043832 0.00001
NM_001851.6(COL9A1):c.1150C>T (p.Pro384Ser) rs148751593 0.00001
NM_001875.5(CPS1):c.2809_2810del (p.Ile937fs) rs1318756445 0.00001
NM_002047.4(GARS1):c.668A>G (p.Gln223Arg) rs750901652 0.00001
NM_002180.3(IGHMBP2):c.830A>G (p.Gln277Arg) rs112495985 0.00001
NM_002206.3(ITGA7):c.341T>C (p.Met114Thr) rs761095619 0.00001
NM_002335.4(LRP5):c.4583A>C (p.Tyr1528Ser) rs1182722973 0.00001
NM_002382.5(MAX):c.299G>A (p.Arg100His) rs776978293 0.00001
NM_002439.5(MSH3):c.1078A>G (p.Met360Val) rs1260085751 0.00001
NM_002439.5(MSH3):c.1834G>A (p.Glu612Lys) rs759247521 0.00001
NM_002485.5(NBN):c.2117C>G (p.Ser706Ter) rs730881857 0.00001
NM_002485.5(NBN):c.2140C>T (p.Arg714Ter) rs730881864 0.00001
NM_002528.7(NTHL1):c.680G>A (p.Gly227Asp) rs1055874267 0.00001
NM_002838.5(PTPRC):c.3646-5A>G rs1177239218 0.00001
NM_002878.4(RAD51D):c.431C>T (p.Ser144Phe) rs587781875 0.00001
NM_002878.4(RAD51D):c.716G>A (p.Arg239Gln) rs780921112 0.00001
NM_002900.3(RBP3):c.1532A>T (p.Asp511Val) rs1555211247 0.00001
NM_002900.3(RBP3):c.749G>A (p.Arg250His) rs782477232 0.00001
NM_003060.4(SLC22A5):c.118G>A (p.Val40Met) rs148657753 0.00001
NM_003072.5(SMARCA4):c.4743C>T (p.Gly1581=) rs759862377 0.00001
NM_003119.4(SPG7):c.1675A>T (p.Lys559Ter) rs372981030 0.00001
NM_003119.4(SPG7):c.759-2A>G rs770299071 0.00001
NM_003159.3(CDKL5):c.2921T>C (p.Met974Thr) rs2147197846 0.00001
NM_003183.6(ADAM17):c.1120G>A (p.Gly374Arg) rs199755899 0.00001
NM_003327.4(TNFRSF4):c.472G>T (p.Ala158Ser) rs755162827 0.00001
NM_003331.5(TYK2):c.1433G>T (p.Ser478Ile) rs141250995 0.00001
NM_003701.4(TNFSF11):c.92A>T (p.His31Leu) rs1471498841 0.00001
NM_003809.3(TNFSF12):c.194A>C (p.Asp65Ala) rs747019973 0.00001
NM_003977.4(AIP):c.720C>T (p.Cys240=) rs267606572 0.00001
NM_004168.4(SDHA):c.1099C>G (p.Gln367Glu) rs780941330 0.00001
NM_004168.4(SDHA):c.1629T>G (p.Tyr543Ter) rs747249998 0.00001
NM_004168.4(SDHA):c.1679C>T (p.Thr560Met) rs775350508 0.00001
NM_004204.5(PIGQ):c.618G>C (p.Arg206Ser) rs1375197363 0.00001
NM_004260.4(RECQL4):c.3206G>A (p.Arg1069His) rs752847936 0.00001
NM_004304.5(ALK):c.1720G>A (p.Gly574Arg) rs762358335 0.00001
NM_004320.6(ATP2A1):c.844C>T (p.Pro282Ser) rs746961249 0.00001
NM_004360.5(CDH1):c.2398C>T (p.Arg800Cys) rs587782162 0.00001
NM_004360.5(CDH1):c.370C>T (p.Arg124Cys) rs748086082 0.00001
NM_004370.6(COL12A1):c.1456C>T (p.Arg486Trp) rs371505180 0.00001
NM_004370.6(COL12A1):c.5230+1G>A rs1274606112 0.00001
NM_004370.6(COL12A1):c.5620T>C (p.Tyr1874His) rs1766439644 0.00001
NM_004370.6(COL12A1):c.6148G>T (p.Gly2050Trp) rs947116571 0.00001
NM_004415.4(DSP):c.2858T>C (p.Leu953Pro) rs745641212 0.00001
NM_004655.4(AXIN2):c.1651T>C (p.Cys551Arg) rs730881398 0.00001
NM_004655.4(AXIN2):c.2448G>A (p.Ala816=) rs752357462 0.00001
NM_004863.4(SPTLC2):c.547C>T (p.Arg183Trp) rs775437084 0.00001
NM_004958.4(MTOR):c.3541G>A (p.Val1181Ile) rs1274311146 0.00001
NM_004958.4(MTOR):c.6875A>G (p.Asn2292Ser) rs374052581 0.00001
NM_005045.4(RELN):c.4441A>G (p.Lys1481Glu) rs896069835 0.00001
NM_005120.3(MED12):c.1376C>T (p.Thr459Ile) rs2092292878 0.00001
NM_005228.5(EGFR):c.2749G>A (p.Gly917Arg) rs775695605 0.00001
NM_005343.4(HRAS):c.398T>A (p.Leu133His) rs766801436 0.00001
NM_005591.4(MRE11):c.661A>C (p.Ser221Arg) rs587781272 0.00001
NM_005592.4(MUSK):c.1360G>A (p.Asp454Asn) rs202239254 0.00001
NM_005732.4(RAD50):c.1237C>T (p.Gln413Ter) rs373428259 0.00001
NM_005732.4(RAD50):c.1378G>A (p.Val460Met) rs587782440 0.00001
NM_005732.4(RAD50):c.1958C>A (p.Ser653Ter) rs587781904 0.00001
NM_005732.4(RAD50):c.349G>T (p.Val117Phe) rs1237021808 0.00001
NM_005732.4(RAD50):c.3779G>A (p.Arg1260His) rs367683141 0.00001
NM_005883.3(APC2):c.278C>T (p.Pro93Leu) rs1019108407 0.00001
NM_006017.3(PROM1):c.2281-2A>G rs1718768311 0.00001
NM_006096.4(NDRG1):c.1052G>A (p.Arg351Gln) rs1282857383 0.00001
NM_006204.4(PDE6C):c.2284-10C>A rs1199306848 0.00001
NM_006214.4(PHYH):c.19G>A (p.Ala7Thr) rs746485843 0.00001
NM_006231.4(POLE):c.1550C>T (p.Pro517Leu) rs780556141 0.00001
NM_006231.4(POLE):c.3745G>A (p.Val1249Met) rs762626359 0.00001
NM_006231.4(POLE):c.4172C>G (p.Ser1391Cys) rs149145495 0.00001
NM_006231.4(POLE):c.5060C>T (p.Ser1687Phe) rs1565936909 0.00001
NM_006306.4(SMC1A):c.2039G>A (p.Arg680His) rs1556889522 0.00001
NM_006514.4(SCN10A):c.2527T>C (p.Phe843Leu) rs768541787 0.00001
NM_006514.4(SCN10A):c.3521A>G (p.Tyr1174Cys) rs1167279918 0.00001
NM_006514.4(SCN10A):c.5283T>G (p.Phe1761Leu) rs751237565 0.00001
NM_006767.4(LZTR1):c.1912C>T (p.Arg638Cys) rs1213535694 0.00001
NM_006767.4(LZTR1):c.2284C>T (p.Gln762Ter) rs1924868328 0.00001
NM_006859.4(LIAS):c.850G>A (p.Glu284Lys) rs796052699 0.00001
NM_006876.3(B4GAT1):c.223G>A (p.Ala75Thr) rs1465193578 0.00001
NM_007194.4(CHEK2):c.1037G>A (p.Arg346His) rs730881688 0.00001
NM_007194.4(CHEK2):c.1214A>G (p.Asn405Ser) rs369070738 0.00001
NM_007194.4(CHEK2):c.1265G>A (p.Ser422Asn) rs549755590 0.00001
NM_007194.4(CHEK2):c.136A>T (p.Met46Leu) rs1601852941 0.00001
NM_007194.4(CHEK2):c.1486C>T (p.Gln496Ter) rs756250205 0.00001
NM_007294.4(BRCA1):c.2475del (p.Asp825fs) rs80357970 0.00001
NM_007294.4(BRCA1):c.3485del (p.Asp1162fs) rs80357509 0.00001
NM_007294.4(BRCA1):c.86A>G (p.Glu29Gly) rs773841328 0.00001
NM_007315.4(STAT1):c.1276G>A (p.Val426Ile) rs143182587 0.00001
NM_012388.4(BLOC1S6):c.115A>G (p.Ile39Val) rs779791657 0.00001
NM_012418.4(FSCN2):c.1106-9C>T rs1284263379 0.00001
NM_012448.4(STAT5B):c.440C>T (p.Thr147Met) rs768919211 0.00001
NM_014244.5(ADAMTS2):c.2351G>T (p.Ser784Ile) rs749754452 0.00001
NM_014244.5(ADAMTS2):c.3151G>A (p.Asp1051Asn) rs1252240288 0.00001
NM_014845.6(FIG4):c.2296C>T (p.Arg766Trp) rs552937585 0.00001
NM_014845.6(FIG4):c.80T>C (p.Val27Ala) rs769687105 0.00001
NM_015450.3(POT1):c.1559A>G (p.Asp520Gly) rs1370868219 0.00001
NM_015450.3(POT1):c.233T>C (p.Ile78Thr) rs947005337 0.00001
NM_015474.4(SAMHD1):c.1258A>T (p.Thr420Ser) rs754153159 0.00001
NM_016123.4(IRAK4):c.376C>T (p.Pro126Ser) rs1379851408 0.00001
NM_017617.5(NOTCH1):c.2735G>A (p.Arg912Gln) rs773185855 0.00001
NM_017617.5(NOTCH1):c.4271T>C (p.Leu1424Ser) rs954507677 0.00001
NM_017617.5(NOTCH1):c.632C>G (p.Thr211Ser) rs1401319182 0.00001
NM_017780.4(CHD7):c.2527A>G (p.Ile843Val) rs772358323 0.00001
NM_017780.4(CHD7):c.7199G>A (p.Arg2400Gln) rs534510177 0.00001
NM_018129.4(PNPO):c.422G>A (p.Arg141His) rs759335202 0.00001
NM_018297.4(NGLY1):c.800G>T (p.Ser267Ile) rs147901411 0.00001
NM_018418.5(SPATA7):c.620T>A (p.Phe207Tyr) rs1177680731 0.00001
NM_018972.4(GDAP1):c.358C>T (p.Arg120Trp) rs104894078 0.00001
NM_019098.5(CNGB3):c.644-1G>C rs201794629 0.00001
NM_020631.6(PLEKHG5):c.1054A>G (p.Ile352Val) rs200802048 0.00001
NM_020631.6(PLEKHG5):c.2127T>A (p.Asp709Glu) rs910994587 0.00001
NM_020964.3(EPG5):c.7258T>C (p.Trp2420Arg) rs777351158 0.00001
NM_020975.6(RET):c.2370G>T (p.Leu790Phe) rs75030001 0.00001
NM_020987.5(ANK3):c.8746A>G (p.Ile2916Val) rs375389082 0.00001
NM_021620.4(PRDM13):c.870C>T (p.Gly290=) rs1035992118 0.00001
NM_021625.5(TRPV4):c.686C>T (p.Ser229Leu) rs373980330 0.00001
NM_023110.3(FGFR1):c.91+6G>T rs886062921 0.00001
NM_024301.5(FKRP):c.976G>A (p.Ala326Thr) rs1201873802 0.00001
NM_024537.4(CARS2):c.1631G>A (p.Ser544Asn) rs747870375 0.00001
NM_024577.4(SH3TC2):c.3511C>T (p.Arg1171Cys) rs759785462 0.00001
NM_024675.4(PALB2):c.1123C>A (p.Leu375Ile) rs373298267 0.00001
NM_024675.4(PALB2):c.1616_1617dup (p.Asn540fs) rs786203346 0.00001
NM_024675.4(PALB2):c.2386G>T (p.Gly796Ter) rs180177112 0.00001
NM_024675.4(PALB2):c.2571G>A (p.Leu857=) rs587780821 0.00001
NM_024782.3(NHEJ1):c.700G>A (p.Gly234Ser) rs191958428 0.00001
NM_025137.4(SPG11):c.2612dup (p.Ser871fs) rs750101275 0.00001
NM_030962.4(SBF2):c.3887C>T (p.Ser1296Leu) rs767811228 0.00001
NM_030962.4(SBF2):c.5036G>A (p.Arg1679His) rs769919130 0.00001
NM_030973.4(MED25):c.751G>A (p.Ala251Thr) rs775622130 0.00001
NM_032043.3(BRIP1):c.1054T>C (p.Tyr352His) rs730881632 0.00001
NM_032043.3(BRIP1):c.1315C>T (p.Arg439Ter) rs587780226 0.00001
NM_032043.3(BRIP1):c.2071A>C (p.Ile691Leu) rs587782356 0.00001
NM_032043.3(BRIP1):c.3464G>A (p.Gly1155Glu) rs45603843 0.00001
NM_032229.3(SLITRK6):c.1066T>C (p.Ser356Pro) rs373397052 0.00001
NM_032861.4(SERAC1):c.1725_1727dup (p.Glu575_Phe576insLeu) rs1478893955 0.00001
NM_053025.4(MYLK):c.1618A>T (p.Thr540Ser) rs927903236 0.00001
NM_053025.4(MYLK):c.1690G>A (p.Gly564Ser) rs1275836800 0.00001
NM_053025.4(MYLK):c.2398G>T (p.Val800Phe) rs758697820 0.00001
NM_058216.3(RAD51C):c.252G>T (p.Lys84Asn) rs786202890 0.00001
NM_145290.4(ADGRA3):c.559G>C (p.Glu187Gln) rs771978768 0.00001
NM_152443.3(RDH12):c.210dup (p.Arg71fs) rs797044761 0.00001
NM_152468.5(TMC8):c.2085C>A (p.Val695=) rs746193490 0.00001
NM_153033.5(KCTD7):c.121G>C (p.Ala41Pro) rs766856368 0.00001
NM_170606.3(KMT2C):c.12118C>T (p.Leu4040Phe) rs1367557010 0.00001
NM_172107.4(KCNQ2):c.1741C>T (p.Arg581Ter) rs118192236 0.00001
NM_172364.5(CACNA2D4):c.1276C>T (p.Arg426Ter) rs764495319 0.00001
NM_177438.3(DICER1):c.2536A>G (p.Ile846Val) rs201212908 0.00001
NM_182972.3(IRF2BP2):c.522G>C (p.Gln174His) rs1346043758 0.00001
NM_198576.4(AGRN):c.4799C>T (p.Ala1600Val) rs370833536 0.00001
NM_201384.3(PLEC):c.12022G>A (p.Glu4008Lys) rs541833704 0.00001
NM_203447.4(DOCK8):c.1441G>A (p.Asp481Asn) rs374938180 0.00001
NM_205836.3(FBXO38):c.3277G>A (p.Val1093Ile) rs779324806 0.00001
GRCh37/hg19 10p13(chr10:14945105-14954010)x3
GRCh37/hg19 11p14.3(chr11:22239792-22242756)x1
GRCh37/hg19 11q14.1(chr11:77617820-77784237)x3
GRCh37/hg19 11q22.3(chr11:108235811-108239828)x1
GRCh37/hg19 15q11.2(chr15:25582396-25684175)x1
GRCh37/hg19 16p12.2(chr16:23614483-23619333)x1
GRCh37/hg19 16p13.2(chr16:8807079-9045027)x3
GRCh37/hg19 16p13.2(chr16:8851612-8943194)x3
GRCh37/hg19 16p13.3(chr16:176680-177522)x1
GRCh37/hg19 17p12(chr17:15133096-15164093)x1
GRCh37/hg19 17p12(chr17:15229779-15265326)x3
GRCh37/hg19 17q22(chr17:56787220-56811584)x1
GRCh37/hg19 19q13.42(chr19:55476652-55525075)x1
GRCh37/hg19 1p36.32-36.23(chr1:2420003-8155935)x1
GRCh37/hg19 3q25.2-25.31(chr3:154548410-155021779)x1
GRCh37/hg19 5q13.2(chr5:70220768-70247953)x0
GRCh37/hg19 5q13.2(chr5:70925030-70953012)x0
GRCh37/hg19 5q22.2(chr5:112073556-112179823)x1
GRCh37/hg19 5q23.1(chr5:116419511-120022321)x3
GRCh37/hg19 7p22.1(chr7:6026390-6027251)x3
NM_000033.4(ABCD1):c.1599G>T (p.Lys533Asn) rs1569541092
NM_000033.4(ABCD1):c.1763T>A (p.Ile588Asn) rs1569541122
NM_000033.4(ABCD1):c.874G>A (p.Glu292Lys) rs2091712008
NM_000038.6(APC):c.1495C>T (p.Arg499Ter) rs137854580
NM_000038.6(APC):c.3535T>C (p.Tyr1179His) rs751249843
NM_000038.6(APC):c.3629A>T (p.His1210Leu) rs756346998
NM_000038.6(APC):c.4765C>G (p.Arg1589Gly) rs72541813
NM_000038.6(APC):c.697C>T (p.Gln233Ter) rs1554074772
NM_000038.6(APC):c.863C>T (p.Thr288Ile) rs1580511667
NM_000051.4(ATM):c.127C>A (p.Leu43Ile) rs772591447
NM_000051.4(ATM):c.1601C>G (p.Pro534Arg) rs587782212
NM_000051.4(ATM):c.2546T>C (p.Val849Ala) rs1555082209
NM_000051.4(ATM):c.2638+2T>C rs587779826
NM_000051.4(ATM):c.3245_3247delinsTGAT (p.His1082fs) rs587776549
NM_000051.4(ATM):c.3785G>T (p.Arg1262Ile) rs786203618
NM_000051.4(ATM):c.3802del (p.Glu1267_Val1268insTer) rs587779834
NM_000051.4(ATM):c.4643A>T (p.Asp1548Val) rs1448017467
NM_000051.4(ATM):c.5695T>C (p.Cys1899Arg) rs373213507
NM_000051.4(ATM):c.6916_6917del (p.Leu2307fs) rs878853535
NM_000051.4(ATM):c.8036_8051del (p.Asn2679fs) rs587780640
NM_000051.4(ATM):c.809G>A (p.Arg270Lys) rs587781857
NM_000051.4(ATM):c.8264A>C (p.Tyr2755Ser) rs1591199410
NM_000051.4(ATM):c.8269-10_8269-9del rs587780641
NM_000051.4(ATM):c.8565T>G (p.Ser2855Arg) rs780905851
NM_000051.4(ATM):c.8879G>A (p.Trp2960Ter) rs1131691149
NM_000053.4(ATP7B):c.3206A>G (p.His1069Arg) rs201738147
NM_000059.3(BRCA2):c.2808_2811del (p.Ala938Profs) rs80359351
NM_000059.4(BRCA2):c.1292C>T (p.Thr431Ile) rs876660828
NM_000059.4(BRCA2):c.1411G>A (p.Glu471Lys) rs80358428
NM_000059.4(BRCA2):c.1755_1759del (p.Lys585fs) rs80359302
NM_000059.4(BRCA2):c.1813del (p.Ile605fs) rs80359306
NM_000059.4(BRCA2):c.1813dup (p.Ile605fs) rs80359306
NM_000059.4(BRCA2):c.2389A>C (p.Lys797Gln) rs587782737
NM_000059.4(BRCA2):c.2405A>G (p.Asn802Ser) rs876661089
NM_000059.4(BRCA2):c.2701del (p.Ala902fs) rs397507637
NM_000059.4(BRCA2):c.3816G>C (p.Met1272Ile) rs1469541725
NM_000059.4(BRCA2):c.3847_3848del (p.Val1283fs) rs80359405
NM_000059.4(BRCA2):c.4163_4164delinsA (p.Thr1388fs) rs276174843
NM_000059.4(BRCA2):c.4189G>A (p.Glu1397Lys) rs28897726
NM_000059.4(BRCA2):c.4448_4449del (p.Thr1483fs) rs1566230322
NM_000059.4(BRCA2):c.462_463del (p.Arg155_Asp156insTer) rs80359459
NM_000059.4(BRCA2):c.4631del (p.Asn1544fs) rs80359460
NM_000059.4(BRCA2):c.5073dup (p.Trp1692fs) rs80359479
NM_000059.4(BRCA2):c.5350_5351del (p.Asn1784fs) rs80359507
NM_000059.4(BRCA2):c.5945G>C (p.Ser1982Thr) rs28897738
NM_000059.4(BRCA2):c.6347A>T (p.His2116Leu) rs55953736
NM_000059.4(BRCA2):c.6941C>A (p.Thr2314Lys) rs1177474377
NM_000059.4(BRCA2):c.6952C>T (p.Arg2318Ter) rs80358920
NM_000059.4(BRCA2):c.7658del (p.Asn2553fs) rs2072708512
NM_000059.4(BRCA2):c.7934del (p.Arg2645fs) rs80359688
NM_000059.4(BRCA2):c.7977-1G>C rs81002874
NM_000059.4(BRCA2):c.8487+3A>G rs81002806
NM_000059.4(BRCA2):c.8672C>G (p.Thr2891Arg) rs1401510742
NM_000059.4(BRCA2):c.9523G>T (p.Glu3175Ter) rs397507430
NM_000059.4(BRCA2):c.956dup (p.Asn319fs) rs80359770
NM_000059.4(BRCA2):c.9952A>C (p.Asn3318His) rs80359256
NM_000070.3(CAPN3):c.1621C>G (p.Arg541Gly) rs142004418
NM_000070.3(CAPN3):c.584A>C (p.Asn195Thr) rs148855999
NM_000077.5(CDKN2A):c.203C>T (p.Ala68Val) rs1060501260
NM_000077.5(CDKN2A):c.250G>A (p.Asp84Asn) rs11552822
NM_000081.4(LYST):c.2317G>A (p.Val773Met) rs546317523
NM_000083.3(CLCN1):c.1437_1450del (p.Pro480fs) rs768119034
NM_000083.3(CLCN1):c.689G>A (p.Gly230Glu) rs80356700
NM_000088.4(COL1A1):c.2644C>T (p.Arg882Ter) rs72653147
NM_000088.4(COL1A1):c.3076C>T (p.Arg1026Ter) rs72653173
NM_000088.4(COL1A1):c.385C>T (p.Pro129Ser) rs761672800
NM_000089.4(COL1A2):c.368C>A (p.Pro123His) rs1791759808
NM_000090.4(COL3A1):c.2959G>A (p.Gly987Ser) rs587779583
NM_000090.4(COL3A1):c.528+5G>A rs794728038
NM_000092.5(COL4A4):c.3844G>T (p.Gly1282Trp) rs777134408
NM_000093.5(COL5A1):c.2155C>T (p.Pro719Ser) rs1564446104
NM_000093.5(COL5A1):c.4064C>T (p.Pro1355Leu) rs2132855475
NM_000093.5(COL5A1):c.4887G>A (p.Leu1629=) rs1588598230
NM_000098.3(CPT2):c.1239_1240del (p.Lys414fs) rs397509431
NM_000136.3(FANCC):c.455dup (p.Asn152fs) rs774170058
NM_000138.5(FBN1):c.2055C>G (p.Cys685Trp) rs140603
NM_000138.5(FBN1):c.229G>A (p.Gly77Arg) rs794728290
NM_000138.5(FBN1):c.4222T>C (p.Cys1408Arg) rs397515802
NM_000138.5(FBN1):c.5018T>C (p.Ile1673Thr) rs2043300504
NM_000138.5(FBN1):c.5485G>C (p.Gly1829Arg) rs1597537835
NM_000138.5(FBN1):c.8014T>G (p.Cys2672Gly) rs1555393833
NM_000142.5(FGFR3):c.749C>G (p.Pro250Arg) rs4647924
NM_000143.4(FH):c.584T>C (p.Met195Thr) rs863223965
NM_000152.5(GAA):c.1192C>A (p.Leu398Met) rs369707231
NM_000166.6(GJB1):c.658C>T (p.Arg220Ter) rs104894814
NM_000169.3(GLA):c.1024C>T (p.Arg342Ter) rs104894843
NM_000179.3(MSH6):c.-6G>A rs730881822
NM_000179.3(MSH6):c.1190_1191del (p.Tyr397fs) rs63750439
NM_000179.3(MSH6):c.1406A>G (p.Tyr469Cys) rs748165218
NM_000179.3(MSH6):c.1645del (p.Ser549fs) rs876661033
NM_000179.3(MSH6):c.2230dup (p.Glu744fs) rs786201050
NM_000179.3(MSH6):c.2337T>G (p.Cys779Trp) rs1553413707
NM_000179.3(MSH6):c.2550C>G (p.Tyr850Ter) rs374230313
NM_000179.3(MSH6):c.322T>C (p.Cys108Arg) rs1668689651
NM_000179.3(MSH6):c.3439-1G>T rs587779263
NM_000179.3(MSH6):c.3450A>C (p.Leu1150Phe) rs762134820
NM_000179.3(MSH6):c.3768T>G (p.Tyr1256Ter) rs63751058
NM_000179.3(MSH6):c.3848_3850dup (p.Ile1283dup) rs1553333420
NM_000179.3(MSH6):c.3959_3962del (p.Ala1320fs) rs267608120
NM_000179.3(MSH6):c.3989T>G (p.Leu1330Arg) rs774395829
NM_000194.3(HPRT1):c.143G>A (p.Arg48His) rs387906725
NM_000222.3(KIT):c.1666C>G (p.Gln556Glu) rs1722301014
NM_000249.4(MLH1):c.1154G>C (p.Arg385Pro) rs63750430
NM_000249.4(MLH1):c.1774A>G (p.Ser592Gly) rs2125984638
NM_000249.4(MLH1):c.649C>A (p.Arg217Ser) rs4986984
NM_000249.4(MLH1):c.670G>A (p.Val224Ile) rs1553644251
NM_000251.3(MSH2):c.1216C>G (p.Arg406Gly) rs63751108
NM_000251.3(MSH2):c.655dup (p.Arg219fs) rs1558461615
NM_000251.3(MSH2):c.998G>A (p.Cys333Tyr) rs63750828
NM_000256.3(MYBPC3):c.2670G>A (p.Trp890Ter) rs397515982
NM_000256.3(MYBPC3):c.362C>T (p.Pro121Leu) rs551888783
NM_000257.4(MYH7):c.76G>A (p.Ala26Thr) rs775643803
NM_000268.4(NF2):c.1271G>T (p.Arg424Leu) rs751182657
NM_000304.4(PMP22):c.418T>A (p.Trp140Arg) rs1555564040
NM_000313.4(PROS1):c.1323_1323+1del rs1708347661
NM_000314.8(PTEN):c.21G>C (p.Glu7Asp) rs1554890337
NM_000322.5(PRPH2):c.828+3A>T rs281865373
NM_000334.4(SCN4A):c.4343G>A (p.Arg1448His) rs121908545
NM_000335.5(SCN5A):c.611+1G>A rs794728843
NM_000371.4(TTR):c.244G>A (p.Glu82Lys) rs1555631402
NM_000376.3(VDR):c.1104_1105inv (p.Cys369Gly)
NM_000383.4(AIRE):c.967_979del (p.Leu323fs) rs386833675
NM_000388.4(CASR):c.209G>A (p.Trp70Ter) rs2107627458
NM_000388.4(CASR):c.2990C>A (p.Ser997Tyr) rs1244383237
NM_000388.4(CASR):c.494T>G (p.Val165Gly) rs1559958757
NM_000393.5(COL5A2):c.2507G>C (p.Arg836Pro) rs751683516
NM_000397.4(CYBB):c.46-2A>T rs2146803092
NM_000426.4(LAMA2):c.5813C>T (p.Ala1938Val) rs376585927
NM_000455.5(STK11):c.1250C>G (p.Ala417Gly) rs1166243253
NM_000465.4(BARD1):c.1887G>A (p.Trp629Ter) rs878854003
NM_000465.4(BARD1):c.1935_1954dup (p.Glu652fs) rs587780024
NM_000465.4(BARD1):c.273G>A (p.Trp91Ter) rs2106135008
NM_000492.3(CFTR):c.1210-12T[5] rs1805177
NM_000492.4(CFTR):c.350G>T (p.Arg117Leu) rs78655421
NM_000530.8(MPZ):c.434_437del (p.Tyr145fs) rs1553259643
NM_000535.7(PMS2):c.1238_1239delinsGG (p.Lys413Arg) rs587780041
NM_000535.7(PMS2):c.1949C>T (p.Ala650Val) rs886062399
NM_000535.7(PMS2):c.2192_2196del (p.Leu731fs) rs63750695
NM_000535.7(PMS2):c.662C>T (p.Pro221Leu) rs878854056
NM_000538.4(RFXAP):c.120_125dup (p.Ala41_Ser42dup) rs763202512
NM_000546.6(TP53):c.1009C>T (p.Arg337Cys) rs587782529
NM_000546.6(TP53):c.1101-1G>A rs876658982
NM_000546.6(TP53):c.31G>C (p.Glu11Gln) rs201382018
NM_000546.6(TP53):c.661G>A (p.Glu221Lys) rs786201592
NM_000546.6(TP53):c.988del (p.Leu330fs) rs2073149039
NM_000548.5(TSC2):c.4597C>T (p.Leu1533Phe) rs1567528528
NM_000548.5(TSC2):c.929A>T (p.Tyr310Phe) rs878854122
NM_000551.4(VHL):c.194C>T (p.Ser65Leu) rs5030826
NM_000565.4(IL6R):c.992T>C (p.Met331Thr) rs1163365013
NM_000836.4(GRIN2D):c.3706_3723del (p.Pro1236_Arg1241del) rs903787363
NM_000891.3(KCNJ2):c.431G>A (p.Gly144Asp) rs199473377
NM_001005373.4(LRSAM1):c.1864A>G (p.Ile622Val) rs1836186573
NM_001005373.4(LRSAM1):c.2089C>T (p.Gln697Ter) rs961918637
NM_001006658.3(CR2):c.2018C>G (p.Thr673Arg) rs141171306
NM_001008537.3(NEXMIF):c.3595_3611del (p.Lys1199fs) rs1556016292
NM_001018115.3(FANCD2):c.103T>C (p.Ser35Pro) rs773847165
NM_001032221.6(STXBP1):c.1217G>A (p.Arg406His) rs886041246
NM_001032386.2(SUOX):c.1280_1281delinsAC (p.Ser427Tyr) rs1565799723
NM_001033855.3(DCLRE1C):c.1648G>C (p.Gly550Arg) rs1588892551
NM_001035.3(RYR2):c.5080A>G (p.Met1694Val) rs1486465466
NM_001035.3(RYR2):c.7160C>T (p.Ala2387Val) rs794728754
NM_001036.6(RYR3):c.6799G>A (p.Val2267Ile) rs2068053416
NM_001042492.3(NF1):c.1185+2T>G rs1555611043
NM_001042492.3(NF1):c.1885G>A (p.Gly629Arg) rs199474738
NM_001042492.3(NF1):c.2131C>T (p.Arg711Cys) rs1400902839
NM_001042492.3(NF1):c.2989A>G (p.Arg997Gly) rs2067085335
NM_001042492.3(NF1):c.3238C>G (p.Leu1080Val) rs1555614832
NM_001042492.3(NF1):c.3544G>T (p.Val1182Phe) rs1555615027
NM_001042492.3(NF1):c.4394A>G (p.Asn1465Ser) rs786202492
NM_001042492.3(NF1):c.5327C>G (p.Ser1776Ter) rs2069376973
NM_001042492.3(NF1):c.8084C>T (p.Pro2695Leu) rs2070328290
NM_001042492.3(NF1):c.872A>C (p.Glu291Ala) rs876660171
NM_001048174.2(MUTYH):c.487C>T (p.Arg163Trp) rs761101420
NM_001065.4(TNFRSF1A):c.175T>C (p.Cys59Arg) rs104895217
NM_001110556.2(FLNA):c.477G>C (p.Glu159Asp) rs2067775793
NM_001110556.2(FLNA):c.7165G>A (p.Ala2389Thr) rs2067608494
NM_001111.5(ADAR):c.2830A>C (p.Lys944Gln) rs373564780
NM_001113378.2(FANCI):c.866T>C (p.Leu289Pro) rs1210148997
NM_001114753.3(ENG):c.1469T>C (p.Leu490Ser) rs763475207
NM_001122630.2(CDKN1C):c.-3A>G rs1564930879
NM_001122769.3(LCA5):c.469A>G (p.Ile157Val) rs901281230
NM_001127222.2(CACNA1A):c.4174G>A (p.Val1392Met) rs794727411
NM_001127222.2(CACNA1A):c.4804A>G (p.Ile1602Val) rs2056444576
NM_001134407.3(GRIN2A):c.1948G>T (p.Ala650Ser) rs2042447713
NM_001142416.2(AIMP1):c.7AAT[1] (p.Asn4del) rs769350799
NM_001148.6(ANK2):c.4673A>G (p.Asp1558Gly) rs1554550305
NM_001161352.2(KCNMA1):c.162_173del (p.Ser57_Ser60del) rs754606765
NM_001161352.2(KCNMA1):c.36CGG[8] (p.Gly20dup) rs760628050
NM_001164508.2(NEB):c.16994A>C (p.Asn5665Thr) rs2153806253
NM_001164508.2(NEB):c.3264_3265del (p.Tyr1088_Lys1089delinsTer) rs2099386637
NM_001165963.4(SCN1A):c.238dup (p.Leu80fs) rs1684663586
NM_001165963.4(SCN1A):c.5822C>A (p.Thr1941Lys) rs756845310
NM_001166114.2(PNPLA6):c.555G>T (p.Arg185=) rs1329932060
NM_001174150.2(ARL13B):c.836A>T (p.Lys279Ile) rs2076889650
NM_001184.4(ATR):c.1575GAA[1] (p.Lys527del) rs2034798916
NM_001184880.2(PCDH19):c.1548C>A (p.Tyr516Ter) rs587784295
NM_001206927.2(DNAH8):c.11729T>G (p.Phe3910Cys) rs375158290
NM_001267550.2(TTN):c.106201G>A (p.Glu35401Lys) rs2154132721
NM_001267550.2(TTN):c.107797G>C (p.Gly35933Arg) rs1575170417
NM_001267550.2(TTN):c.12519_12520del (p.Glu4173fs) rs1553939605
NM_001267550.2(TTN):c.44281+1G>A rs771562210
NM_001267550.2(TTN):c.51449del (p.Pro17150fs) rs2055912067
NM_001267550.2(TTN):c.65505del (p.Ile21835fs) rs1559521007
NM_001267550.2(TTN):c.70475G>A (p.Cys23492Tyr) rs1709819407
NM_001271862.2(PNLDC1):c.1069_1070delinsT (p.Lys357fs) rs2483194421
NM_001277115.2(DNAH11):c.11288_11289dup (p.Ile3764fs) rs1562590250
NM_001297.5(CNGB1):c.1089GGA[6] (p.Glu371dup) rs141566950
NM_001349253.2(SCN11A):c.3526C>G (p.Pro1176Ala) rs2065128737
NM_001364905.1(LRBA):c.4876_4877delinsTT (p.Ala1626Leu) rs1560877215
NM_001365536.1(SCN9A):c.3332A>G (p.Asp1111Gly) rs753287730
NM_001365999.1(SZT2):c.10216C>T (p.Pro3406Ser) rs1185160520
NM_001366385.1(CARD14):c.675G>A (p.Glu225=) rs1598640695
NM_001367823.1(ARHGEF18):c.1006G>T (p.Asp336Tyr) rs201764417
NM_001367916.1(MAGT1):c.676_680del (p.Phe226fs) rs1603361606
NM_001368067.1(LDB3):c.439G>A (p.Ala147Thr) rs121908333
NM_001370259.2(MEN1):c.1049+1G>A rs1114167489
NM_001370259.2(MEN1):c.1A>G (p.Met1Val) rs386134250
NM_001370466.1(NOD2):c.631A>T (p.Ser211Cys) rs1001861018
NM_001374736.1(DST):c.15836AAG[1] (p.Glu5280del) rs1233181836
NM_001374828.1(ARID1B):c.1227AGGAGGAGCAGGAGC[1] (p.411GAGAG[1]) rs773423003
NM_001378030.1(CCDC78):c.50G>A (p.Arg17Gln) rs1046402338
NM_001378414.1(HDAC4):c.602A>G (p.Tyr201Cys) rs756509655
NM_001378778.1(MPDZ):c.4768G>A (p.Val1590Ile) rs1486488017
NM_001382567.1(STIM1):c.700_707del (p.Asn234fs) rs1590688717
NM_001458.5(FLNC):c.2036C>T (p.Pro679Leu) rs975517733
NM_001458.5(FLNC):c.577G>A (p.Ala193Thr) rs387906587
NM_001458.5(FLNC):c.7841_7842del (p.Val2614fs) rs1554402003
NM_001540.5(HSPB1):c.172del (p.Leu58fs) rs768456339
NM_001563.4(IMPG1):c.1751T>C (p.Met584Thr) rs1782008139
NM_001613.4(ACTA2):c.246C>G (p.Asp82Glu) rs1254836237
NM_001754.5(RUNX1):c.70G>A (p.Gly24Arg) rs1399187182
NM_001754.5(RUNX1):c.844G>A (p.Asp282Asn) rs762953695
NM_001848.3(COL6A1):c.1002+6_1002+88del rs1556425727
NM_001849.4(COL6A2):c.1336G>A (p.Asp446Asn) rs535007570
NM_001849.4(COL6A2):c.2851G>T (p.Val951Phe) rs111630733
NM_001903.5(CTNNA1):c.1726A>G (p.Thr576Ala) rs1580855958
NM_001958.5(EEF1A2):c.1267C>T (p.Arg423Cys) rs886039346
NM_002180.3(IGHMBP2):c.181G>A (p.Gly61Arg) rs1057518943
NM_002180.3(IGHMBP2):c.791G>A (p.Arg264His) rs777575504
NM_002439.5(MSH3):c.2499C>G (p.Cys833Trp) rs1744532481
NM_002485.5(NBN):c.115C>A (p.Gln39Lys) rs377730553
NM_002485.5(NBN):c.149C>T (p.Ala50Val) rs1554569035
NM_002485.5(NBN):c.1530G>C (p.Glu510Asp) rs1283330641
NM_002485.5(NBN):c.1769del (p.Arg590fs) rs1563525004
NM_002485.5(NBN):c.527_538del (p.Tyr176_Glu179del) rs1811866878
NM_002485.5(NBN):c.657_661del (p.Lys219fs) rs587776650
NM_002528.7(NTHL1):c.172G>T (p.Val58Leu) rs1177326558
NM_002528.7(NTHL1):c.574T>G (p.Tyr192Asp) rs2084300211
NM_002691.4(POLD1):c.2434C>A (p.Leu812Met) rs2039215653
NM_002691.4(POLD1):c.623C>T (p.Pro208Leu) rs774030917
NM_002838.5(PTPRC):c.125G>T (p.Ser42Ile) rs1159457079
NM_002860.4(ALDH18A1):c.1078+5A>G rs2139591190
NM_002878.4(RAD51D):c.81del (p.Val28fs) rs1064793952
NM_003072.5(SMARCA4):c.4781A>G (p.Lys1594Arg) rs1555796197
NM_003072.5(SMARCA4):c.489G>T (p.Gly163=) rs1201612670
NM_003157.6(NEK4):c.460C>T (p.Arg154Ter) rs370377370
NM_003238.6(TGFB2):c.59G>A (p.Ser20Asn) rs1656695125
NM_003239.5(TGFB3):c.335A>G (p.Gln112Arg) rs2035412849
NM_003482.4(KMT2D):c.16342C>T (p.Arg5448Ter) rs1422752351
NM_003640.5(ELP1):c.1355A>C (p.Lys452Thr) rs1829195961
NM_003701.4(TNFSF11):c.2T>G (p.Met1Arg) rs201199211
NM_003995.4(NPR2):c.1557+1G>A rs2132081744
NM_004055.5(CAPN5):c.728G>T (p.Arg243Leu) rs397514601
NM_004082.5(DCTN1):c.1504C>T (p.Arg502Cys) rs145958900
NM_004082.5(DCTN1):c.1807C>A (p.His603Asn) rs1558939544
NM_004082.5(DCTN1):c.874C>T (p.Arg292Cys) rs1200414397
NM_004168.4(SDHA):c.245_252del (p.Glu82fs) rs1734890180
NM_004168.4(SDHA):c.456+3_456+4delinsCT rs1734966566
NM_004260.4(RECQL4):c.1969G>T (p.Ala657Ser) rs993147176
NM_004260.4(RECQL4):c.2148C>G (p.Ile716Met) rs772168426
NM_004360.5(CDH1):c.1009_1010del (p.Ser337Phefs) rs786201045
NM_004360.5(CDH1):c.1015C>G (p.Pro339Ala) rs1555515709
NM_004360.5(CDH1):c.1202C>T (p.Ala401Val) rs150795245
NM_004360.5(CDH1):c.1454T>C (p.Ile485Thr) rs587783049
NM_004360.5(CDH1):c.1565+1G>A rs587780113
NM_004360.5(CDH1):c.2064_2065del (p.Cys688_Glu689delinsTer) rs587781276
NM_004360.5(CDH1):c.504del (p.Gly169fs) rs864622655
NM_004364.5(CEBPA):c.157G>A (p.Gly53Ser) rs1967196253
NM_004369.4(COL6A3):c.1735G>A (p.Ala579Thr) rs1574725167
NM_004370.6(COL12A1):c.266A>C (p.Glu89Ala) rs1278211393
NM_004370.6(COL12A1):c.5855T>G (p.Val1952Gly) rs1766324604
NM_004370.6(COL12A1):c.6728C>T (p.Thr2243Ile) rs746250737
NM_004370.6(COL12A1):c.8319+1G>C rs1768416586
NM_004380.3(CREBBP):c.2574dup (p.Pro859fs) rs2141203402
NM_004380.3(CREBBP):c.383C>A (p.Ser128Tyr) rs55790011
NM_004586.3(RPS6KA3):c.1996C>T (p.Gln666Ter) rs1603417440
NM_004820.5(CYP7B1):c.1346G>A (p.Cys449Tyr) rs761060634
NM_004820.5(CYP7B1):c.961G>A (p.Glu321Lys) rs866340497
NM_004946.3(DOCK2):c.4608C>A (p.Asp1536Glu) rs766582922
NM_004974.4(KCNA2):c.890G>A (p.Arg297Gln) rs786205232
NM_005120.3(MED12):c.616C>G (p.Arg206Gly) rs1556334331
NM_005222.4(DLX6):c.258CCA[5] (p.His91del) rs746036175
NM_005228.5(EGFR):c.1344G>C (p.Leu448Phe) rs763266323
NM_005431.2(XRCC2):c.794T>G (p.Leu265Ter) rs771671971
NM_005515.4(MNX1):c.403_404insCCGCCG (p.Ala133_Ala134dup) rs1290429302
NM_005535.3(IL12RB1):c.1360G>A (p.Val454Met) rs1043461219
NM_005592.4(MUSK):c.1874G>A (p.Arg625Lys) rs2077900685
NM_005732.4(RAD50):c.3458_3459dup (p.Thr1154fs) rs2149862783
NM_006017.3(PROM1):c.1682+3A>G rs1326022839
NM_006073.4(TRDN):c.1667A>G (p.Lys556Arg) rs1554219406
NM_006096.4(NDRG1):c.176T>C (p.Ile59Thr) rs1856819839
NM_006231.4(POLE):c.2T>A (p.Met1Lys) rs879254126
NM_006231.4(POLE):c.3076_3096dup (p.Asp1026_Leu1032dup) rs1555225690
NM_006231.4(POLE):c.349T>G (p.Ser117Ala) rs2043134882
NM_006231.4(POLE):c.4450A>G (p.Ile1484Val) rs772734618
NM_006231.4(POLE):c.4924T>C (p.Cys1642Arg) rs1593730686
NM_006231.4(POLE):c.5477G>C (p.Arg1826Pro) rs1555221919
NM_006231.4(POLE):c.720+1G>A rs1060500808
NM_006254.4(PRKCD):c.140A>C (p.Lys47Thr) rs1553666756
NM_006306.4(SMC1A):c.3056_3082delinsTGCAG (p.Arg1019fs) rs1556886127
NM_006445.4(PRPF8):c.5377-1G>T rs1911505318
NM_006859.4(LIAS):c.1106_1110del (p.Thr369fs) rs1560674852
NM_006904.7(PRKDC):c.3632T>A (p.Val1211Asp) rs2089506122
NM_007126.5(VCP):c.478G>C (p.Ala160Pro) rs1554668805
NM_007194.4(CHEK2):c.1263del (p.Ser422fs) rs587780174
NM_007194.4(CHEK2):c.1400T>G (p.Leu467Trp) rs1555913161
NM_007194.4(CHEK2):c.277del (p.Trp93fs) rs786203458
NM_007194.4(CHEK2):c.284G>A (p.Arg95Gln) rs750596499
NM_007194.4(CHEK2):c.79C>G (p.Gln27Glu) rs376736188
NM_007294.4(BRCA1):c.1328A>G (p.Lys443Arg) rs2053956439
NM_007294.4(BRCA1):c.2035A>T (p.Lys679Ter) rs80357082
NM_007294.4(BRCA1):c.2934T>G (p.Tyr978Ter) rs80357115
NM_007294.4(BRCA1):c.3331_3334del (p.Gln1111fs) rs80357701
NM_007294.4(BRCA1):c.3406C>A (p.Pro1136Thr) rs431825395
NM_007294.4(BRCA1):c.3897G>T (p.Gln1299His) rs398122678
NM_007294.4(BRCA1):c.4327C>T (p.Arg1443Ter) rs41293455
NM_007294.4(BRCA1):c.4955_4956delinsAA (p.Met1652Lys) rs1597830347
NM_007294.4(BRCA1):c.4964_4982del (p.Ser1655fs) rs80359876
NM_007294.4(BRCA1):c.5194-12G>A rs80358079
NM_007294.4(BRCA1):c.68_69del (p.Glu23fs) rs80357914
NM_013382.7(POMT2):c.2167dup (p.Leu723fs) rs2140157102
NM_014003.4(DHX38):c.3193G>C (p.Asp1065His) rs752923486
NM_014244.5(ADAMTS2):c.84GCC[7] (p.Pro34dup) rs770212030
NM_014846.4(WASHC5):c.1883A>G (p.Gln628Arg) rs1816420898
NM_014874.4(MFN2):c.1511T>C (p.Leu504Pro) rs1553145023
NM_014874.4(MFN2):c.818T>G (p.Val273Gly) rs1458700065
NM_014946.4(SPAST):c.1291C>T (p.Arg431Ter) rs786204126
NM_015271.5(TRIM2):c.1663C>T (p.Arg555Cys) rs2149528038
NM_015915.5(ATL1):c.715C>T (p.Arg239Cys) rs119476046
NM_016122.3(CEP83):c.1234_1237del (p.Lys412fs) rs780500128
NM_017617.5(NOTCH1):c.691G>A (p.Gly231Ser) rs1247729687
NM_017774.3(CDKAL1):c.1241del (p.Lys414fs) rs2532458534
NM_017780.4(CHD7):c.8774C>T (p.Ala2925Val) rs1563674763
NM_017849.4(TMEM127):c.117_120del (p.Ile41fs) rs121908816
NM_018129.4(PNPO):c.759C>G (p.Asp253Glu) rs757023013
NM_018139.3(DNAAF2):c.1208G>A (p.Cys403Tyr) rs2502768178
NM_018489.3(ASH1L):c.4902_4903del (p.Ser1635fs) rs1665684529
NM_018648.4(NOP10):c.122_135delinsCACC (p.Tyr41fs) rs1595604667
NM_018979.4(WNK1):c.6624C>G (p.Ser2208Arg) rs72650768
NM_019032.6(ADAMTSL4):c.767_786del (p.Gln256fs) rs199473693
NM_020435.4(GJC2):c.436_462del (p.Pro146_Glu154del) rs779077705
NM_020458.4(TTC7A):c.563G>A (p.Arg188His) rs147471840
NM_020937.4(FANCM):c.2302A>G (p.Met768Val) rs1594795205
NM_020975.6(RET):c.1828A>C (p.Asn610His) rs1837994023
NM_021098.3(CACNA1H):c.3737C>G (p.Ser1246Trp) rs571145188
NM_021620.4(PRDM13):c.1027G>A (p.Glu343Lys) rs1431975587
NM_021625.5(TRPV4):c.2246C>G (p.Pro749Arg) rs1555205050
NM_021930.6(RINT1):c.985G>A (p.Val329Met) rs1213803824
NM_022168.4(IFIH1):c.2158C>G (p.Arg720Gly) rs761864966
NM_024339.5(THOC6):c.156-2del rs2151134923
NM_024426.6(WT1):c.670A>T (p.Thr224Ser) rs1554945246
NM_024577.4(SH3TC2):c.2072_2090del (p.Ala691fs) rs878855092
NM_024675.4(PALB2):c.1266del (p.Lys422_Val423insTer) rs1555461366
NM_024675.4(PALB2):c.1490del (p.Asn497fs) rs1555461253
NM_024675.4(PALB2):c.1847A>G (p.Asp616Gly) rs876660063
NM_024675.4(PALB2):c.2727_2728del (p.Thr911fs) rs730881869
NM_024675.4(PALB2):c.2749G>A (p.Val917Ile) rs753767237
NM_024675.4(PALB2):c.757_758del (p.Leu253fs) rs180177092
NM_025114.4(CEP290):c.6847G>A (p.Glu2283Lys) rs2136656424
NM_025136.4(OPA3):c.439_440del (p.Gly147fs) rs1425399743
NM_025137.4(SPG11):c.4402C>G (p.Pro1468Ala) rs2083030697
NM_025137.4(SPG11):c.4432C>T (p.Gln1478Ter) rs2140971559
NM_025137.4(SPG11):c.5989_5992del (p.Leu1997fs) rs312262776
NM_025137.4(SPG11):c.5990T>A (p.Leu1997Gln) rs879367729
NM_025137.4(SPG11):c.7324G>C (p.Ala2442Pro) rs765644977
NM_025225.3(PNPLA3):c.295T>C (p.Cys99Arg) rs2076213
NM_025233.7(COASY):c.1632+3T>G rs1597715924
NM_030930.4(UNC93B1):c.133GAG[4] (p.Glu49del) rs767892224
NM_031471.6(FERMT3):c.507G>C (p.Leu169Phe) rs1946427260
NM_032043.3(BRIP1):c.1853_1854insG (p.Pro619fs) rs587781985
NM_032043.3(BRIP1):c.2684_2687del (p.Val894_Ser895insTer) rs760551339
NM_032043.3(BRIP1):c.3374_3376del (p.Ala1125del) rs745344948
NM_032043.3(BRIP1):c.500C>T (p.Thr167Ile) rs758218234
NM_032193.4(RNASEH2C):c.268_269delinsGT (p.Lys90Val) rs1565213438
NM_032237.5(POMK):c.979G>C (p.Val327Leu) rs546931054
NM_032415.7(CARD11):c.3G>A (p.Met1Ile) rs746425765
NM_032444.4(SLX4):c.1898G>T (p.Gly633Val) rs1056085
NM_032608.7(MYO18B):c.5915T>C (p.Ile1972Thr) rs2146631078
NM_032638.5(GATA2):c.1360C>T (p.Pro454Ser) rs774297463
NM_032638.5(GATA2):c.25C>T (p.Arg9Cys) rs1436974541
NM_032638.5(GATA2):c.299_300delinsTT (p.Gly100Val) rs1060500084
NM_033004.4(NLRP1):c.2043G>T (p.Glu681Asp) rs146030920
NM_033380.3(COL4A5):c.2466ACCACCAGG[1] (p.823PPG[1]) rs104886356
NM_058216.3(RAD51C):c.672_705+65dup rs1555597214
NM_058216.3(RAD51C):c.884C>G (p.Ala295Gly) rs1555602136
NM_139276.3(STAT3):c.875C>G (p.Ser292Cys) rs1598415625
NM_144687.4(NLRP12):c.442G>A (p.Gly148Arg) rs757517539
NM_144997.7(FLCN):c.1085G>A (p.Arg362His) rs559055296
NM_144997.7(FLCN):c.1420G>A (p.Ala474Thr) rs2046876810
NM_145698.5(ACBD5):c.122C>A (p.Ser41Tyr) rs2065329219
NM_152383.5(DIS3L2):c.525AGA[3] (p.Glu176dup) rs1412955553
NM_152783.5(D2HGDH):c.1015C>T (p.Leu339Phe) rs980206781
NM_170707.4(LMNA):c.1380+1G>A rs267607552
NM_170707.4(LMNA):c.1583C>G (p.Thr528Arg) rs57629361
NM_170707.4(LMNA):c.694G>C (p.Gly232Arg) rs267607609
NM_173660.5(DOK7):c.1124_1127dup (p.Ala378fs) rs606231128
NM_177438.3(DICER1):c.1105G>A (p.Asp369Asn) rs1893223474
NM_177438.3(DICER1):c.5038A>G (p.Lys1680Glu) rs1060503639
NM_177438.3(DICER1):c.5176C>T (p.Gln1726Ter) rs2139814525
NM_177438.3(DICER1):c.5622C>A (p.Tyr1874Ter) rs769490774
NM_182914.3(SYNE2):c.15527A>T (p.Glu5176Val) rs1595828652
NM_201384.3(PLEC):c.10339C>T (p.Leu3447Phe) rs1554678366
NM_201384.3(PLEC):c.5932GAG[2] (p.Glu1980del) rs781811075
NM_201384.3(PLEC):c.6797T>C (p.Leu2266Pro) rs1586877407
NM_203475.3(PORCN):c.178G>A (p.Gly60Arg) rs267606973
NM_206937.2(LIG4):c.2592_2595del (p.Ile864fs) rs765317127
NM_206937.2(LIG4):c.689A>T (p.Asp230Val) rs1388798970
NM_213599.3(ANO5):c.191dup (p.Asn64fs) rs137854521
NM_213599.3(ANO5):c.2004del (p.Leu669fs) rs886043172

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