ClinVar Miner

List of variants reported as benign by Mayo Clinic Laboratories, Mayo Clinic

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1411
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000263.4(NAGLU):c.423T>C (p.Ser141=) rs659497 0.99480
NM_152419.3(HGSNAT):c.1749T>C (p.Tyr583=) rs1126058 0.99080
NM_000391.4(TPP1):c.1075+28T>C rs7943955 0.98952
NM_000027.4(AGA):c.699-25G>C rs4690521 0.98895
NM_001040108.2(MLH3):c.2476A>G (p.Asn826Asp) rs175081 0.98791
NM_014363.6(SACS):c.10338G>A (p.Gln3446=) rs2737701 0.98600
NM_000144.5(FXN):c.54A>G (p.Pro18=) rs2481598 0.98511
NM_000925.4(PDHB):c.435A>G (p.Arg145=) rs4264746 0.98352
NM_000059.4(BRCA2):c.4563A>G (p.Leu1521=) rs206075 0.97986
NM_020549.5(CHAT):c.-10T>G rs7923716 0.97663
NM_006214.4(PHYH):c.153C>T (p.Asn51=) rs1747682 0.96869
NM_002495.4(NDUFS4):c.198A>C (p.Gly66=) rs31304 0.96579
NM_000153.4(GALC):c.1698A>T (p.Val566=) rs421466 0.95773
NM_000153.4(GALC):c.1834+5C>G rs448805 0.95475
NM_000153.4(GALC):c.1921A>G (p.Thr641Ala) rs421262 0.95462
NM_001126121.2(SLC25A19):c.339T>C (p.Tyr113=) rs7213318 0.93459
NM_000466.3(PEX1):c.2331C>A (p.Gly777=) rs10278857 0.93013
NM_000027.4(AGA):c.446C>G (p.Thr149Ser) rs2228119 0.92759
NM_004655.4(AXIN2):c.1365A>G (p.Pro455=) rs9915936 0.90382
NM_014165.4(NDUFAF4):c.420G>A (p.Gln140=) rs11402 0.90128
NM_004937.3(CTNS):c.329+22C>G rs459613 0.88549
NM_000404.4(GLB1):c.34T>C (p.Leu12=) rs7614776 0.88431
NM_130837.3(OPA1):c.1035+4T>C rs166850 0.88294
NM_020745.4(AARS2):c.2871A>G (p.Ser957=) rs325008 0.87930
NM_000520.6(HEXA):c.1306A>G (p.Ile436Val) rs1800431 0.87890
NM_000520.6(HEXA):c.1518A>G (p.Glu506=) rs4777502 0.87885
NM_001126121.2(SLC25A19):c.*2T>C rs1809352 0.87805
NM_015340.4(LARS2):c.2358A>G (p.Val786=) rs267220 0.87505
NM_177924.5(ASAH1):c.737T>C (p.Val246Ala) rs10103355 0.87079
NM_000466.3(PEX1):c.358-15G>A rs38809 0.86650
NM_000535.7(PMS2):c.1621A>G (p.Lys541Glu) rs2228006 0.86482
NM_001916.5(CYC1):c.99T>G (p.Arg33=) rs11541475 0.86270
NM_213595.4(ISCU):c.20T>G (p.Phe7Cys) rs10778648 0.86086
NM_015340.4(LARS2):c.2169T>C (p.Ala723=) rs2170549 0.85995
NM_000203.5(IDUA):c.99T>G (p.His33Gln) rs10794537 0.85085
NM_004937.3(CTNS):c.779C>T (p.Thr260Ile) rs161400 0.84806
NM_001083614.2(EARS2):c.1369A>G (p.Ser457Gly) rs6497671 0.84008
NM_078470.6(COX15):c.*1126T>C rs2231687 0.83974
NM_001083614.2(EARS2):c.606C>G (p.Val202=) rs2073951 0.83916
NM_020549.5(CHAT):c.1641T>C (p.His547=) rs8178992 0.82309
NM_000038.6(APC):c.5465T>A (p.Val1822Asp) rs459552 0.82099
NM_000535.7(PMS2):c.780C>G (p.Ser260=) rs1805319 0.82058
NM_003705.5(SLC25A12):c.99T>C (p.Tyr33=) rs1878583 0.81051
NM_004360.5(CDH1):c.48+6C>T rs3743674 0.80384
NM_004813.4(PEX16):c.542-16C>T rs3802758 0.80104
NM_000152.5(GAA):c.2331+20G>A rs2304832 0.80041
NM_002495.4(NDUFS4):c.312A>G (p.Arg104=) rs31303 0.79100
NM_004813.4(PEX16):c.873T>C (p.Tyr291=) rs1132349 0.79011
NM_021074.5(NDUFV2):c.86T>C (p.Val29Ala) rs906807 0.78836
NM_015340.4(LARS2):c.1053T>C (p.Leu351=) rs7610357 0.78771
NM_015340.4(LARS2):c.1455G>A (p.Ala485=) rs2128361 0.78756
NM_003477.3(PDHX):c.63C>T (p.Pro21=) rs2956109 0.78720
NM_000179.3(MSH6):c.3173-101G>C rs2072447 0.78513
NM_000289.6(PFKM):c.1880+27A>G rs4075913 0.78311
NM_006796.3(AFG3L2):c.1650A>G (p.Glu550=) rs11553521 0.77624
NM_000487.6(ARSA):c.1210+20C>G rs762674 0.76867
NM_021957.4(GYS2):c.1169+12A>T rs4639981 0.76485
NM_000642.3(AGL):c.894C>T (p.Leu298=) rs2230306 0.76251
NM_021957.4(GYS2):c.1229+11G>A rs1871137 0.75356
NM_014324.6(AMACR):c.829G>A (p.Glu277Lys) rs2278008 0.75062
NM_001358921.2(COQ2):c.744T>C (p.Asp248=) rs6535454 0.74903
NM_021957.4(GYS2):c.1087A>G (p.Met363Val) rs2306180 0.74398
NM_002617.4(PEX10):c.291A>G (p.Thr97=) rs2494598 0.74152
NM_014324.6(AMACR):c.602T>C (p.Leu201Ser) rs2287939 0.73966
NM_000271.5(NPC1):c.1926G>C (p.Met642Ile) rs1788799 0.73957
NM_000405.5(GM2A):c.205A>G (p.Met69Val) rs153478 0.73795
NM_000151.4(G6PC1):c.*23T>C rs2229611 0.73413
NM_000179.3(MSH6):c.3802-40C>G rs3136367 0.73398
NM_017827.4(SARS2):c.1160+4T>C rs7508411 0.73282
NM_003850.3(SUCLA2):c.371+9C>T rs6561424 0.73019
NM_001083614.2(EARS2):c.264G>A (p.Ala88=) rs7187920 0.72546
NM_014362.4(HIBCH):c.136A>G (p.Thr46Ala) rs1058180 0.72415
NM_001083614.2(EARS2):c.1068-5C>T rs2072061 0.72406
NM_021957.4(GYS2):c.1422+23C>G rs7977474 0.72064
NM_000152.5(GAA):c.2040+20A>G rs2304836 0.72004
NM_000152.5(GAA):c.324T>C (p.Cys108=) rs1800300 0.71989
NM_000152.5(GAA):c.2338G>A (p.Val780Ile) rs1126690 0.71839
NM_000152.5(GAA):c.1327-18A>G rs2278619 0.71811
NM_032861.4(SERAC1):c.249C>T (p.Asp83=) rs6929274 0.71772
NM_017547.4(FOXRED1):c.-2T>C rs1786702 0.71634
NM_002076.4(GNS):c.198G>A (p.Pro66=) rs1147096 0.70681
NM_025136.4(OPA3):c.231T>C (p.Ala77=) rs3826860 0.70508
NM_004544.4(NDUFA10):c.105A>G (p.Lys35=) rs2083411 0.70392
NM_004360.5(CDH1):c.2076T>C (p.Ala692=) rs1801552 0.70379
NM_002047.4(GARS1):c.124C>G (p.Pro42Ala) rs1049402 0.70073
NM_000033.4(ABCD1):c.*8G>C rs2229539 0.70012
NM_001011719.2(ARSH):c.*8C>G rs5939155 0.69342
NM_133259.4(LRPPRC):c.246G>A (p.Gln82=) rs6741066 0.69341
NM_006796.3(AFG3L2):c.1389G>A (p.Leu463=) rs11080572 0.67857
NM_006796.3(AFG3L2):c.752+6C>T rs8097342 0.67671
NM_020745.4(AARS2):c.2607G>A (p.Lys869=) rs498512 0.67400
NM_004453.4(ETFDH):c.92C>T (p.Thr31Ile) rs11559290 0.67086
NM_001011719.2(ARSH):c.949T>C (p.Leu317=) rs5939407 0.66820
NM_182760.4(SUMF1):c.1116T>C (p.Thr372=) rs2633852 0.66322
NM_020442.6(VARS2):c.3033C>T (p.Asp1011=) rs1043483 0.66272
NM_000108.5(DLD):c.439-7T>C rs10263341 0.66181
NM_002495.4(NDUFS4):c.12G>C (p.Val4=) rs2279516 0.65985
NM_000642.3(AGL):c.2812+11G>A rs555929 0.65828
NM_000152.5(GAA):c.596A>G (p.His199Arg) rs1042393 0.65667
NM_000152.5(GAA):c.547-4C>G rs3816256 0.65665
NM_000152.5(GAA):c.668G>A (p.Arg223His) rs1042395 0.65662
NM_000308.4(CTSA):c.1088+10C>T rs4608591 0.65654
NM_000152.5(GAA):c.1438-19G>C rs2304844 0.65495
NM_000308.4(CTSA):c.948+7G>A rs2075961 0.65493
NM_000152.5(GAA):c.955+12G>A rs2252455 0.65487
NM_000152.5(GAA):c.1203G>A (p.Gln401=) rs1800304 0.65453
NM_053013.4(ENO3):c.212A>G (p.Asn71Ser) rs238238 0.65415
NM_000262.3(NAGA):c.279G>A (p.Pro93=) rs133369 0.64950
NM_005566.4(LDHA):c.483C>T (p.Ser161=) rs4687 0.64502
NM_005566.4(LDHA):c.592+30T>A rs3758680 0.64484
NM_005566.4(LDHA):c.519A>G (p.Leu173=) rs4820 0.64482
NM_005670.4(EPM2A):c.159C>G (p.Ala53=) rs2235482 0.63686
NM_005138.3(SCO2):c.633A>C (p.Ala211=) rs12148 0.63421
NM_174889.5(NDUFAF2):c.60G>A (p.Lys20=) rs158921 0.63042
NM_000546.6(TP53):c.215C>G (p.Pro72Arg) rs1042522 0.62654
NM_001358921.2(COQ2):c.46G>T (p.Val16Leu) rs6818847 0.62431
NM_000405.5(GM2A):c.175A>G (p.Ile59Val) rs153477 0.62259
NM_003793.4(CTSF):c.1401T>C (p.Arg467=) rs572846 0.62182
NM_003793.4(CTSF):c.762G>A (p.Arg254=) rs545009 0.62158
NM_003793.4(CTSF):c.219T>C (p.Gly73=) rs1127894 0.62142
NM_024312.5(GNPTAB):c.3135+5T>C rs759935 0.60955
NM_001752.4(CAT):c.-20T>C rs1049982 0.60619
NM_000027.4(AGA):c.127+25C>T rs11131799 0.60222
NM_003477.3(PDHX):c.858T>C (p.Val286=) rs497582 0.59662
NM_000038.6(APC):c.5034G>A (p.Gly1678=) rs42427 0.59504
NM_000038.6(APC):c.5880G>A (p.Pro1960=) rs465899 0.59308
NM_000038.6(APC):c.5268T>G (p.Ser1756=) rs866006 0.59230
NM_000038.6(APC):c.4479G>A (p.Thr1493=) rs41115 0.59177
NM_000038.6(APC):c.1635G>A (p.Ala545=) rs351771 0.59150
NM_014236.4(GNPAT):c.915G>A (p.Glu305=) rs574553 0.58786
NM_024312.5(GNPTAB):c.1932A>G (p.Thr644=) rs10778148 0.58708
NM_024884.3(L2HGDH):c.53T>G (p.Leu18Arg) rs2275591 0.58246
NM_024996.7(GFM1):c.643G>A (p.Val215Ile) rs2303909 0.58201
NM_024996.7(GFM1):c.18T>C (p.Ala6=) rs1864507 0.58169
NM_000152.5(GAA):c.2553G>A (p.Gly851=) rs1042397 0.57872
NM_024884.3(L2HGDH):c.159C>T (p.Ile53=) rs2297995 0.57826
NM_000287.4(PEX6):c.1688+30C>T rs9471982 0.56968
NM_000287.4(PEX6):c.1961+20G>A rs2274514 0.56870
NM_000287.4(PEX6):c.1885-24G>A rs3818554 0.56866
NM_000287.4(PEX6):c.2814G>A (p.Glu938=) rs1129186 0.56758
NM_000382.3(ALDH3A2):c.1446A>T (p.Ala482=) rs7216 0.56713
NM_213595.4(ISCU):c.35C>T (p.Ala12Val) rs2287555 0.56452
NM_024876.4(COQ8B):c.1035+7T>C rs2246095 0.56103
NM_000271.5(NPC1):c.2911+28T>C rs6507720 0.56005
NM_152783.5(D2HGDH):c.685-9T>C rs4234097 0.55730
NM_000251.3(MSH2):c.211+9C>G rs2303426 0.55454
NM_005908.4(MANBA):c.2015-28G>A rs4547797 0.55331
NM_005908.4(MANBA):c.2368T>C (p.Leu790=) rs2272697 0.55313
NM_022089.4(ATP13A2):c.1815C>T (p.Pro605=) rs2076603 0.55111
NM_000199.5(SGSH):c.250-26C>T rs4889839 0.54568
NM_004035.7(ACOX1):c.936C>G (p.Ile312Met) rs1135640 0.53769
NM_001303.4(COX10):c.504G>A (p.Leu168=) rs2159132 0.53492
NM_020686.6(ABAT):c.167A>G (p.Gln56Arg) rs1731017 0.53047
NM_001126121.2(SLC25A19):c.819G>A (p.Leu273=) rs4789164 0.52943
NM_001985.3(ETFB):c.461C>T (p.Thr154Met) rs1130426 0.52772
NM_014362.4(HIBCH):c.2T>C (p.Met1Thr) rs291466 0.52671
NM_020442.6(VARS2):c.-28+82T>C rs1264306 0.52561
NM_004655.4(AXIN2):c.1386C>T (p.Pro462=) rs1133683 0.52439
NM_001040108.2(MLH3):c.4335A>G (p.Gln1445=) rs13712 0.52176
NM_000181.4(GUSB):c.1065+27C>G rs781143 0.52153
NM_024407.5(NDUFS7):c.68C>T (p.Pro23Leu) rs1142530 0.52046
NM_001931.5(DLAT):c.953T>C (p.Val318Ala) rs627441 0.51169
NM_001953.5(TYMP):c.972C>T (p.Ala324=) rs131804 0.51130
NM_003630.3(PEX3):c.942-13A>G rs161058 0.51037
NM_000642.3(AGL):c.2001+8T>C rs3736296 0.51012
NM_000528.4(MAN2B1):c.1310-22C>T rs73002392 0.50963
NM_000181.4(GUSB):c.1946T>C (p.Leu649Pro) rs9530 0.50676
NM_020442.6(VARS2):c.2186-10T>C rs753725 0.50613
NM_020442.6(VARS2):c.1345T>C (p.Trp449Arg) rs2249464 0.50569
NM_004208.4(AIFM1):c.273T>C (p.Asp91=) rs1139851 0.50355
NM_130837.3(OPA1):c.473G>A (p.Ser158Asn) rs7624750 0.50224
NM_130837.3(OPA1):c.2274T>C (p.Ala758=) rs9851685 0.50117
NM_020745.4(AARS2):c.243+6G>A rs167772 0.50019
NM_000271.5(NPC1):c.2572A>G (p.Ile858Val) rs1805082 0.49943
NM_000181.4(GUSB):c.1653+151A>G rs1880555 0.49681
NM_020686.6(ABAT):c.169-5T>C rs1641010 0.49394
NM_001303.4(COX10):c.476G>A (p.Arg159Gln) rs2072279 0.48875
NM_033109.5(PNPT1):c.1390C>A (p.Arg464=) rs2627765 0.48848
NM_002047.4(GARS1):c.2095-6C>T rs2240401 0.48477
NM_014165.4(NDUFAF4):c.430T>C (p.Leu144=) rs6684 0.48379
NM_000404.4(GLB1):c.29C>T (p.Pro10Leu) rs7637099 0.48281
NM_213649.2(SFXN4):c.415-6C>T rs2275111 0.48143
NM_024876.4(COQ8B):c.521A>G (p.His174Arg) rs3865452 0.47243
NM_000391.4(TPP1):c.508+26T>A rs1800738 0.47213
NM_000038.6(APC):c.1458T>C (p.Tyr486=) rs2229992 0.46792
NM_213649.2(SFXN4):c.258A>G (p.Gln86=) rs10749291 0.46610
NM_000199.5(SGSH):c.663+17T>C rs6565647 0.46516
NM_001195518.2(MICU1):c.538-4A>G rs3793927 0.46289
NM_000271.5(NPC1):c.2793C>T (p.Asn931=) rs1140458 0.45824
NM_014049.5(ACAD9):c.379A>C (p.Arg127=) rs1680778 0.45398
NM_020247.5(COQ8A):c.1660-9T>C rs7552783 0.45219
NM_002633.3(PGM1):c.683-22A>T rs6588052 0.45082
NM_000153.4(GALC):c.1671-15C>T rs12432149 0.45011
NM_001398.3(ECH1):c.122A>C (p.Glu41Ala) rs9419 0.44943
NM_033109.5(PNPT1):c.361A>G (p.Ile121Val) rs782572 0.44915
NM_000543.5(SMPD1):c.107T>C (p.Val36Ala) rs1050228 0.44445
NM_014049.5(ACAD9):c.1279-7A>G rs1683787 0.43618
NM_053013.4(ENO3):c.254T>C (p.Val85Ala) rs238239 0.43006
NM_001040108.2(MLH3):c.2531C>T (p.Pro844Leu) rs175080 0.42416
NM_177924.5(ASAH1):c.214G>A (p.Val72Met) rs1071645 0.42367
NM_177924.5(ASAH1):c.277A>G (p.Ile93Val) rs1049874 0.42365
NM_177924.5(ASAH1):c.126-21A>G rs12547845 0.42360
NM_177924.5(ASAH1):c.303+7G>A rs4921834 0.42285
NM_024996.7(GFM1):c.*6C>T rs1047355 0.42265
NM_020247.5(COQ8A):c.1716T>C (p.Ser572=) rs3738725 0.42035
NM_014324.6(AMACR):c.25G>A (p.Val9Met) rs3195676 0.42007
NM_000249.4(MLH1):c.1668-19A>G rs9876116 0.41821
NM_000251.3(MSH2):c.1511-91G>T rs3732182 0.41551
NM_022089.4(ATP13A2):c.2970G>A (p.Val990=) rs761421 0.41522
NM_000249.4(MLH1):c.453+79A>G rs4234259 0.41512
NM_022089.4(ATP13A2):c.3236-30C>T rs2076605 0.41484
NM_001739.2(CA5A):c.143-9T>A rs12922226 0.41434
NM_000642.3(AGL):c.-10A>G rs2307130 0.41188
NM_000249.4(MLH1):c.1990-121C>T rs2241031 0.41163
NM_000414.4(HSD17B4):c.1675A>G (p.Ile559Val) rs11205 0.41131
NM_022089.4(ATP13A2):c.3192C>T (p.Ala1064=) rs9435659 0.40884
NM_022089.4(ATP13A2):c.3516G>A (p.Pro1172=) rs3170740 0.40860
NM_000512.5(GALNS):c.1431G>A (p.Glu477=) rs2303271 0.40780
NM_022089.4(ATP13A2):c.2637C>T (p.Gly879=) rs9435662 0.40757
NM_004329.3(BMPR1A):c.4C>A (p.Pro2Thr) rs11528010 0.40719
NM_000287.4(PEX6):c.399G>T (p.Val133=) rs9462858 0.40569
NM_004329.3(BMPR1A):c.1343-11T>C rs7074064 0.40534
NM_000287.4(PEX6):c.2816C>A (p.Pro939Gln) rs1129187 0.40479
NM_001610.4(ACP2):c.86G>A (p.Arg29Gln) rs2167079 0.40334
NM_000251.3(MSH2):c.1661+12G>A rs3732183 0.40290
NM_000153.4(GALC):c.1350C>T (p.Ser450=) rs398076 0.39907
NM_000203.5(IDUA):c.60G>A (p.Ala20=) rs10902762 0.39819
NM_000203.5(IDUA):c.24C>A (p.Ala8=) rs11248061 0.39731
NM_182476.3(COQ6):c.1216G>A (p.Val406Met) rs8500 0.39628
NM_002294.3(LAMP2):c.156A>T (p.Val52=) rs12097 0.39324
NM_005908.4(MANBA):c.757G>A (p.Val253Ile) rs227368 0.39095
NM_004655.4(AXIN2):c.148C>T (p.Pro50Ser) rs2240308 0.39067
NM_004544.4(NDUFA10):c.771A>G (p.Gln257=) rs13848 0.38961
NM_014324.6(AMACR):c.524G>A (p.Gly175Asp) rs10941112 0.38660
NM_000414.4(HSD17B4):c.317G>A (p.Arg106His) rs25640 0.38375
NM_000340.2(SLC2A2):c.1437C>T (p.Phe479=) rs5398 0.38373
NM_001002755.4(NFU1):c.74T>A (p.Met25Lys) rs4453725 0.37294
NM_000535.7(PMS2):c.1408C>T (p.Pro470Ser) rs1805321 0.37107
NM_001278716.2(FBXL4):c.1103+30T>C rs6935315 0.36921
NM_003630.3(PEX3):c.524-19T>C rs22908 0.36866
NM_001098.3(ACO2):c.670C>T (p.Leu224=) rs1799932 0.36650
NM_000249.4(MLH1):c.1039-78A>G rs11129748 0.36570
NM_014363.6(SACS):c.9981T>C (p.Ala3327=) rs2737700 0.36123
NM_000287.4(PEX6):c.883-3T>C rs9986447 0.36088
NM_002858.4(ABCD3):c.162G>A (p.Lys54=) rs16946 0.35872
NM_000046.5(ARSB):c.1143-27A>C rs25415 0.35324
NM_198586.3(NHLRC1):c.332C>T (p.Pro111Leu) rs10949483 0.35277
NM_016292.3(TRAP1):c.919C>G (p.Arg307Gly) rs13926 0.35183
NM_005006.7(NDUFS1):c.1251A>G (p.Arg417=) rs1801318 0.34874
NM_002778.4(PSAP):c.1432-22C>T rs885828 0.34727
NM_177924.5(ASAH1):c.303+21C>A rs2106037 0.34725
NM_000528.4(MAN2B1):c.1010G>A (p.Arg337Gln) rs1133330 0.34583
NM_002778.4(PSAP):c.1351-14A>G rs4747203 0.34512
NM_000535.7(PMS2):c.705+17A>G rs62456182 0.33782
NM_001193313.2(SUGCT):c.1206G>C (p.Pro402=) rs2010706 0.33644
NM_000169.3(GLA):c.1000-22C>T rs2071228 0.33579
NM_020686.6(ABAT):c.1381+9T>C rs1079348 0.33159
NM_001931.5(DLAT):c.128C>T (p.Ala43Val) rs2303436 0.32827
NM_020686.6(ABAT):c.984C>A (p.Val328=) rs1641022 0.32625
NM_002979.5(SCP2):c.974-18C>T rs7516939 0.32462
NM_018127.7(ELAC2):c.1305-8T>C rs3760316 0.32355
NM_000179.3(MSH6):c.3438+14A>T rs2020911 0.32279
NM_003630.3(PEX3):c.332-20C>G rs3762000 0.32211
NM_001931.5(DLAT):c.1351G>A (p.Asp451Asn) rs10891314 0.32172
NM_000202.8(IDS):c.438C>T (p.Thr146=) rs1141608 0.32051
NM_000108.3(DLD):c.-417A>T rs6943999 0.31432
NM_001010867.4(IBA57):c.134G>C (p.Gly45Ala) rs55873785 0.31221
NM_000199.5(SGSH):c.1367G>A (p.Arg456His) rs7503034 0.31021
NM_000535.7(PMS2):c.2570G>C (p.Gly857Ala) rs1802683 0.30966
NM_024312.5(GNPTAB):c.3336-25T>C rs3736476 0.30966
NM_000159.4(GCDH):c.1173G>T (p.Gly391=) rs1060218 0.30844
NM_007294.4(BRCA1):c.2082C>T (p.Ser694=) rs1799949 0.30810
NM_000528.4(MAN2B1):c.832C>G (p.Leu278Val) rs1054486 0.30800
NM_007294.4(BRCA1):c.3548A>G (p.Lys1183Arg) rs16942 0.30784
NM_021957.4(GYS2):c.*6A>T rs10431213 0.30676
NM_182476.3(COQ6):c.570T>C (p.His190=) rs3180946 0.30516
NM_000046.5(ARSB):c.313-26T>C rs3733895 0.30072
NM_000925.4(PDHB):c.438G>A (p.Gly146=) rs1126551 0.30058
NM_004130.4(GYG1):c.552G>A (p.Pro184=) rs4938 0.29862
NM_000153.4(GALC):c.984G>A (p.Gln328=) rs12888666 0.29819
NM_000158.4(GBE1):c.568A>G (p.Arg190Gly) rs2229519 0.29724
NM_002633.3(PGM1):c.1600-23G>T rs11208265 0.29721
NM_001351132.2(PEX5):c.967-26C>G rs3816424 0.29645
NM_001193313.2(SUGCT):c.630G>A (p.Leu210=) rs12669315 0.29439
NM_000271.5(NPC1):c.644A>G (p.His215Arg) rs1805081 0.29390
NM_007215.4(POLG2):c.505G>A (p.Ala169Thr) rs1427463 0.29359
NM_007294.4(BRCA1):c.4308T>C (p.Ser1436=) rs1060915 0.29170
NM_007294.4(BRCA1):c.3113A>G (p.Glu1038Gly) rs16941 0.29115
NM_001098.3(ACO2):c.192A>C (p.Thr64=) rs137831 0.29094
NM_007294.4(BRCA1):c.2311T>C (p.Leu771=) rs16940 0.29035
NM_213649.2(SFXN4):c.617-3C>T rs17668734 0.28961
NM_001080449.3(DNA2):c.507C>A (p.Ala169=) rs3758626 0.28903
NM_020442.6(VARS2):c.168G>T (p.Ala56=) rs1264301 0.28870
NM_006214.4(PHYH):c.636A>G (p.Thr212=) rs473407 0.28866
NM_020408.6(LYRM4):c.31T>G (p.Ser11Ala) rs2224391 0.28790
NM_020533.3(MCOLN1):c.984C>T (p.Asn328=) rs612862 0.28776
NM_021830.5(TWNK):c.1593-5C>T rs3740485 0.28642
NM_021830.5(TWNK):c.1593-3T>C rs3740486 0.28631
NM_001193313.2(SUGCT):c.708A>G (p.Leu236=) rs4637704 0.28622
NM_002103.5(GYS1):c.1026C>T (p.Phe342=) rs5464 0.28606
NM_000284.4(PDHA1):c.795A>G (p.Ala265=) rs1126565 0.28594
NM_000289.6(PFKM):c.2334T>G (p.Ala778=) rs8716 0.28514
NM_000059.4(BRCA2):c.3396A>G (p.Lys1132=) rs1801406 0.28273
NM_032273.4(TMEM126A):c.395+10A>G rs2196168 0.28103
NM_020442.6(VARS2):c.1288C>T (p.Leu430=) rs2249459 0.27889
NM_020442.6(VARS2):c.2038G>T (p.Val680Leu) rs2074506 0.27888
NM_020442.6(VARS2):c.2893G>A (p.Ala965Thr) rs2252863 0.27881
NM_020442.6(VARS2):c.21C>T (p.Ala7=) rs1264302 0.27868
NM_020442.6(VARS2):c.574-9C>T rs1264299 0.27863
NM_020442.6(VARS2):c.2658C>T (p.Pro886=) rs2532942 0.27861
NM_020442.6(VARS2):c.1353G>A (p.Leu451=) rs2517468 0.27814
NM_002055.5(GFAP):c.*28C>G rs11558961 0.27601
NM_020533.3(MCOLN1):c.877+26A>G rs2305889 0.27574
NM_018127.7(ELAC2):c.650C>T (p.Ser217Leu) rs4792311 0.27559
NM_152783.5(D2HGDH):c.164G>A (p.Arg55Gln) rs77940364 0.27302
NM_002087.4(GRN):c.462+24G>A rs850713 0.27231
NM_000147.5(FUCA1):c.857A>G (p.Gln286Arg) rs13551 0.27120
NM_000046.5(ARSB):c.1191G>A (p.Pro397=) rs25413 0.27041
NM_000291.4(PGK1):c.522-24C>T rs2007039 0.26980
NM_015340.4(LARS2):c.1983G>A (p.Thr661=) rs11549809 0.26851
NM_001048174.2(MUTYH):c.930G>C (p.Gln310His) rs3219489 0.26720
NM_005002.5(NDUFA9):c.411-9A>T rs4147682 0.26203
NM_005726.6(TSFM):c.30T>C (p.Phe10=) rs10747783 0.26055
NM_152783.5(D2HGDH):c.1012G>A (p.Val338Ile) rs1106639 0.25945
NM_004565.3(PEX14):c.156C>T (p.Phe52=) rs12375 0.25602
NM_002633.3(PGM1):c.1464+14G>T rs2269238 0.25474
NM_000235.4(LIPA):c.46A>C (p.Thr16Pro) rs1051338 0.25399
NM_001010867.4(IBA57):c.631G>A (p.Gly211Ser) rs2298014 0.25152
NM_000512.5(GALNS):c.708C>T (p.His236=) rs1064315 0.24874
NM_018109.4(MTPAP):c.484C>T (p.Arg162Cys) rs1047991 0.24628
NM_001370595.2(COA8):c.111G>A (p.Thr37=) rs2274267 0.24519
NM_014049.5(ACAD9):c.1476C>T (p.Pro492=) rs876755 0.24221
NM_152419.3(HGSNAT):c.1377+20G>A rs17603428 0.24049
NM_000405.5(GM2A):c.582A>G (p.Ter194=) rs1048723 0.23979
NM_000179.3(MSH6):c.540T>C (p.Asp180=) rs1800935 0.23857
NM_022089.4(ATP13A2):c.3084-3C>T rs7531163 0.23688
NM_000152.5(GAA):c.2133A>G (p.Thr711=) rs1800310 0.23591
NM_017866.6(TMEM70):c.777C>G (p.Asp259Glu) rs1053077 0.23539
NM_017866.6(TMEM70):c.748A>G (p.Thr250Ala) rs1053079 0.23525
NM_000340.2(SLC2A2):c.329C>T (p.Thr110Ile) rs5400 0.23124
NM_000059.4(BRCA2):c.1114A>C (p.Asn372His) rs144848 0.23116
NM_000249.4(MLH1):c.655A>G (p.Ile219Val) rs1799977 0.23048
NM_002633.3(PGM1):c.661C>T (p.Arg221Cys) rs1126728 0.22903
NM_000340.2(SLC2A2):c.496+8A>T rs5402 0.22868
NM_020442.6(VARS2):c.2750G>A (p.Arg917Gln) rs9394021 0.22711
NM_020442.6(VARS2):c.1272C>T (p.Ser424=) rs2285319 0.22709
NM_001358921.2(COQ2):c.840C>T (p.Ser280=) rs1129617 0.22636
NM_024876.4(COQ8B):c.768G>A (p.Ala256=) rs11538385 0.22464
NM_000203.5(IDUA):c.352C>T (p.Leu118=) rs3755954 0.22368
NM_016013.4(NDUFAF1):c.26G>A (p.Arg9His) rs1899 0.22292
NM_000152.5(GAA):c.*223C>T rs8132 0.22255
NM_001752.4(CAT):c.1167C>T (p.Asp389=) rs769217 0.22045
NM_018122.5(DARS2):c.228-20T>C rs55878143 0.21856
NM_003477.3(PDHX):c.301A>G (p.Thr101Ala) rs11539202 0.21800
NM_014363.6(SACS):c.6195T>C (p.Ile2065=) rs4143768 0.21785
NM_014363.6(SACS):c.8853T>C (p.Val2951=) rs9552929 0.21755
NM_177924.5(ASAH1):c.704-19T>C rs17515291 0.21755
NM_014363.6(SACS):c.10106T>C (p.Val3369Ala) rs17078605 0.21747
NM_014363.6(SACS):c.12304T>C (p.Leu4102=) rs2737699 0.21736
NM_000340.2(SLC2A2):c.776-15C>T rs5406 0.21500
NM_000262.3(NAGA):c.598-15C>T rs2854827 0.21339
NM_005262.3(GFER):c.457C>T (p.Leu153=) rs1046502 0.21325
NM_000404.4(GLB1):c.1233+8T>C rs13093698 0.21250
NM_002863.5(PYGL):c.2016C>T (p.Thr672=) rs15669 0.21064
NM_002633.3(PGM1):c.1258T>C (p.Tyr420His) rs11208257 0.21027
NM_000512.5(GALNS):c.634-19G>A rs12934499 0.20916
NM_000521.4(HEXB):c.362A>G (p.Lys121Arg) rs11556045 0.20835
NM_182760.4(SUMF1):c.188G>A (p.Ser63Asn) rs2819590 0.20761
NM_003705.5(SLC25A12):c.466-3C>T rs3765166 0.20509
NM_022089.4(ATP13A2):c.2790G>A (p.Ser930=) rs3738815 0.20463
NM_012123.4(MTO1):c.1180T>C (p.Leu394=) rs2036039 0.20359
NM_000152.5(GAA):c.1581G>A (p.Arg527=) rs1042396 0.20175
NM_002087.4(GRN):c.264+21G>A rs9897526 0.19972
NM_000202.8(IDS):c.709-680C>T rs4844026 0.19798
NM_000543.5(SMPD1):c.1522G>A (p.Gly508Arg) rs1050239 0.19762
NM_003477.3(PDHX):c.108T>C (p.Ser36=) rs1049307 0.19592
NM_003477.3(PDHX):c.67C>T (p.Arg23Cys) rs1049306 0.19588
NM_006493.4(CLN5):c.956A>G (p.Lys319Arg) rs1800209 0.19521
NM_004937.3(CTNS):c.*300C>G rs2873624 0.19455
NM_000027.4(AGA):c.281+13T>G rs34241758 0.19395
NM_004565.3(PEX14):c.384+14A>T rs284238 0.19360
NM_000391.4(TPP1):c.1542A>T (p.Gly514=) rs1128396 0.19057
NM_000455.5(STK11):c.374+24G>T rs2075604 0.18985
NM_000289.6(PFKM):c.516C>T (p.Thr172=) rs1049392 0.18973
NM_033109.5(PNPT1):c.1738+9G>C rs7584120 0.18938
NM_020442.6(VARS2):c.1656T>C (p.Val552=) rs2074511 0.18932
NM_000179.3(MSH6):c.116G>A (p.Gly39Glu) rs1042821 0.18742
NM_021957.4(GYS2):c.942-17G>A rs8192697 0.18537
NM_000059.4(BRCA2):c.3807T>C (p.Val1269=) rs543304 0.18381
NM_005670.4(EPM2A):c.402G>A (p.Gly134=) rs35230590 0.18342
NM_152783.5(D2HGDH):c.1082C>T (p.Ala361Val) rs1105273 0.17904
NM_002863.5(PYGL):c.*7G>C rs1042266 0.17763
NM_014297.5(ETHE1):c.6G>A (p.Ala2=) rs3810381 0.17604
NM_020549.5(CHAT):c.358G>A (p.Ala120Thr) rs3810950 0.17408
NM_017866.6(TMEM70):c.100G>C (p.Ala34Pro) rs8075 0.17369
NM_002633.3(PGM1):c.*22C>T rs8294 0.17190
NM_002979.5(SCP2):c.987G>T (p.Thr329=) rs7538935 0.16959
NM_000203.5(IDUA):c.543T>C (p.Asn181=) rs6815946 0.16952
NM_000203.5(IDUA):c.1360G>A (p.Val454Ile) rs73066479 0.16867
NM_002633.3(PGM1):c.262A>G (p.Ile88Val) rs855314 0.16859
NM_000203.5(IDUA):c.1467C>T (p.Arg489=) rs115929690 0.16835
NM_000203.5(IDUA):c.942G>C (p.Ala314=) rs6830825 0.16834
NM_000203.5(IDUA):c.1081G>A (p.Ala361Thr) rs6831280 0.16782
NM_002778.4(PSAP):c.1350+5G>A rs11000016 0.16762
NM_001739.2(CA5A):c.807A>T (p.Ala269=) rs72816311 0.16645
NM_000152.5(GAA):c.642C>T (p.Ser214=) rs1800301 0.16610
NM_000203.5(IDUA):c.1164G>C (p.Thr388=) rs6836258 0.16540
NM_002863.5(PYGL):c.1020C>T (p.Asp340=) rs2075643 0.16448
NM_000289.6(PFKM):c.2093-14A>G rs11168427 0.16418
NM_020247.5(COQ8A):c.117G>A (p.Ala39=) rs11549708 0.16388
NM_000289.6(PFKM):c.299G>A (p.Arg100Gln) rs2228500 0.16379
NM_000455.5(STK11):c.920+7G>C rs2075607 0.16357
NM_024876.4(COQ8B):c.9G>A (p.Leu3=) rs11673492 0.16347
NM_001739.2(CA5A):c.453C>T (p.Pro151=) rs7186698 0.16216
NM_001079866.2(BCS1L):c.1017T>C (p.Pro339=) rs35843327 0.15996
NM_001386393.1(PANK2):c.1083-14_1083-9dup rs10679953 0.15963
NM_014236.4(GNPAT):c.1556A>G (p.Asp519Gly) rs11558492 0.15938
NM_002055.5(GFAP):c.619-12C>T rs3744468 0.15797
NM_000340.2(SLC2A2):c.594G>A (p.Thr198=) rs5404 0.15665
NM_012062.5(DNM1L):c.252G>A (p.Gly84=) rs2272238 0.15635
NM_014317.5(PDSS1):c.1027-33_1027-30del rs34974619 0.15417
NM_020442.6(VARS2):c.3146G>A (p.Arg1049Gln) rs4678 0.15318
NM_000543.5(SMPD1):c.636T>C (p.Asp212=) rs7951904 0.15081
NM_006214.4(PHYH):c.85C>T (p.Pro29Ser) rs28938169 0.15001
NM_133259.4(LRPPRC):c.1068A>G (p.Gln356=) rs4953042 0.14931
NM_033109.5(PNPT1):c.1768A>G (p.Asn590Asp) rs7594497 0.14820
NM_004937.3(CTNS):c.504G>A (p.Thr168=) rs1800528 0.14800
NM_004655.4(AXIN2):c.1712+19G>T rs7219582 0.14767
NM_000179.3(MSH6):c.276A>G (p.Pro92=) rs1800932 0.14697
NM_017827.4(SARS2):c.321G>A (p.Glu107=) rs11544093 0.14659
NM_002055.5(GFAP):c.858G>A (p.Arg286=) rs2289681 0.14614
NM_001398.3(ECH1):c.375G>A (p.Ser125=) rs15570 0.14586
NM_012062.5(DNM1L):c.120A>C (p.Ser40=) rs10844308 0.14357
NM_001040436.3(YARS2):c.291C>T (p.Gly97=) rs11539444 0.14354
NM_012062.5(DNM1L):c.918A>G (p.Thr306=) rs10844318 0.14349
NM_016203.4(PRKAG2):c.-26C>T rs66628686 0.14343
NM_001040436.3(YARS2):c.572G>T (p.Gly191Val) rs11539445 0.14334
NM_002979.5(SCP2):c.1235+30G>A rs7529265 0.14185
NM_000414.4(HSD17B4):c.1531T>C (p.Trp511Arg) rs11539471 0.14167
NM_001953.5(TYMP):c.1284T>A (p.Gly428=) rs1138404 0.14075
NM_003501.3(ACOX3):c.1842C>T (p.Ser614=) rs2280571 0.14003
NM_001243177.4(ALDOA):c.1161+17G>T rs2071390 0.13976
NM_000046.5(ARSB):c.691-22T>C rs6870443 0.13972
NM_198076.6(COX20):c.158-5_158-4insG rs150123625 0.13921
NM_000152.5(GAA):c.2331+24T>C rs2304831 0.13841
NM_000436.4(OXCT1):c.414+7A>C rs7723992 0.13820
NM_002778.4(PSAP):c.1005+18C>T rs55829339 0.13764
NM_000642.3(AGL):c.3199C>T (p.Pro1067Ser) rs3753494 0.13698
NM_002541.4(OGDH):c.2973G>A (p.Ala991=) rs2070606 0.13683
NM_002979.5(SCP2):c.1236-16A>G rs17107640 0.13565
NM_018006.5(TRMU):c.28G>T (p.Ala10Ser) rs11090865 0.13476
NM_000235.4(LIPA):c.67G>A (p.Gly23Arg) rs1051339 0.13459
NM_014363.6(SACS):c.171+6C>T rs3751368 0.13441
NM_000512.5(GALNS):c.244+19C>T rs35137494 0.13406
NM_004565.3(PEX14):c.1032G>T (p.Gly344=) rs11539794 0.13336
NM_000179.3(MSH6):c.260+22C>G rs55927047 0.13136
NM_000271.5(NPC1):c.387T>C (p.Tyr129=) rs12970899 0.13133
NM_001863.5(COX6B1):c.42C>T (p.Thr14=) rs7991 0.13052
NM_016013.4(NDUFAF1):c.941C>G (p.Ala314Gly) rs12900702 0.12962
NM_003501.3(ACOX3):c.1266C>T (p.Cys422=) rs28627156 0.12952
NM_006493.4(CLN5):c.-144C>T rs77416795 0.12832
NM_016292.3(TRAP1):c.1185C>G (p.Asp395Glu) rs1136948 0.12832
NM_002778.4(PSAP):c.-4C>T rs2070188 0.12811
NM_000179.3(MSH6):c.186C>A (p.Arg62=) rs1042820 0.12806
NM_005566.4(LDHA):c.348C>A (p.Ile116=) rs6498 0.12798
NM_003477.3(PDHX):c.-4C>G rs3818401 0.12767
NM_000521.4(HEXB):c.619A>G (p.Ile207Val) rs10805890 0.12644
NM_000158.4(GBE1):c.143+10G>T rs9820490 0.12510
NM_000293.3(PHKB):c.775-6G>C rs56268318 0.12475
NM_000169.3(GLA):c.640-16A>G rs2071397 0.12447
NM_001193313.2(SUGCT):c.227-16A>T rs78060149 0.12444
NM_000535.7(PMS2):c.2007-4G>A rs1805326 0.12350
NM_000046.5(ARSB):c.1126G>A (p.Val376Met) rs1071598 0.12316
NM_001136193.2(FASTKD2):c.44G>A (p.Ser15Asn) rs3762568 0.12294
NM_020320.5(RARS2):c.1704A>G (p.Lys568=) rs8802 0.12189
NM_017909.4(RMND1):c.395C>T (p.Thr132Met) rs3734800 0.12180
NM_000535.7(PMS2):c.2007-7C>T rs55954143 0.12135
NM_000153.4(GALC):c.328+19T>A rs74337989 0.12002
NM_001377299.1(NDUFS2):c.1290C>T (p.Ala430=) rs1136207 0.11971
NM_001271696.3(ABCB7):c.1740A>G (p.Ala580=) rs1340990 0.11850
NM_001698.3(AUH):c.483A>C (p.Ile161=) rs7874056 0.11827
NM_000288.4(PEX7):c.-56C>T rs73777751 0.11791
NM_153033.5(KCTD7):c.493+18_493+21dup rs57580125 0.11765
NM_004544.4(NDUFA10):c.5C>G (p.Ala2Gly) rs11541494 0.11689
NM_000179.3(MSH6):c.628-56C>T rs1800936 0.11629
NM_198834.3(ACACA):c.1923G>A (p.Gln641=) rs2229416 0.11510
NM_000535.7(PMS2):c.2466T>C (p.Leu822=) rs10000 0.11447
NM_001042432.2(CLN3):c.1211A>G (p.His404Arg) rs77595156 0.11421
NM_000153.4(GALC):c.621+24T>C rs45568734 0.11420
NM_000147.4(FUCA1):c.-12T>C rs2070954 0.11405
NM_000152.5(GAA):c.921A>T (p.Ala307=) rs1800303 0.11304
NM_021074.5(NDUFV2):c.201A>T (p.Val67=) rs41274300 0.11303
NM_000153.4(GALC):c.42G>C (p.Ala14=) rs112992946 0.11300
NM_000153.4(GALC):c.61G>C (p.Ala21Pro) rs111887056 0.11296
NM_000153.4(GALC):c.75C>A (p.Gly25=) rs111976362 0.11287
NM_014324.6(AMACR):c.717G>T (p.Gln239His) rs34677 0.11264
NM_004655.4(AXIN2):c.2062C>T (p.Leu688=) rs35415678 0.11118
NM_198586.3(NHLRC1):c.312T>C (p.His104=) rs115931931 0.10897
NM_177924.5(ASAH1):c.79-3C>T rs35513736 0.10703
NM_012434.5(SLC17A5):c.246G>A (p.Ala82=) rs472294 0.10691
NM_000404.4(GLB1):c.458-11T>C rs34204221 0.10591
NM_005609.4(PYGM):c.1827+7A>G rs532747 0.10554
NM_003477.3(PDHX):c.798T>C (p.Pro266=) rs61760973 0.10477
NM_000181.4(GUSB):c.1740C>T (p.Tyr580=) rs1061361 0.10447
NM_000271.5(NPC1):c.3797G>A (p.Arg1266Gln) rs1805084 0.10225
NM_000512.5(GALNS):c.199C>A (p.Leu67Met) rs11862754 0.10099
NM_000152.5(GAA):c.1374C>T (p.Tyr458=) rs1800305 0.10079
NM_000147.5(FUCA1):c.4C>T (p.Arg2Trp) rs2070955 0.10031
NM_005908.4(MANBA):c.315G>A (p.Thr105=) rs6857760 0.10011
NM_052865.4(MGME1):c.43A>T (p.Ser15Cys) rs11551768 0.09890
NM_002863.5(PYGL):c.664G>A (p.Val222Ile) rs946616 0.09756
NM_017909.4(RMND1):c.125G>T (p.Ser42Ile) rs11550103 0.09721
NM_006351.4(TIMM44):c.342G>A (p.Thr114=) rs11542189 0.09668
NM_005005.3(NDUFB9):c.436C>T (p.Pro146Ser) rs10195 0.09656
NM_004360.5(CDH1):c.1937-13T>C rs2276330 0.09635
NM_022915.5(MRPL44):c.546A>G (p.Glu182=) rs11546405 0.09593
NM_002047.4(GARS1):c.222+5C>T rs2072236 0.09556
NM_024312.5(GNPTAB):c.18G>A (p.Leu6=) rs4764655 0.09551
NM_002047.4(GARS1):c.93G>C (p.Leu31=) rs2529438 0.09548
NM_020686.6(ABAT):c.309C>T (p.Val103=) rs2229157 0.09544
NM_016035.5(COQ4):c.318G>A (p.Ser106=) rs2270203 0.09525
NM_017909.4(RMND1):c.447A>G (p.Lys149=) rs61739876 0.09461
NM_014324.6(AMACR):c.247+20G>A rs9282595 0.09385
NM_001953.5(TYMP):c.1412C>T (p.Ser471Leu) rs11479 0.09354
NM_000158.4(GBE1):c.579G>A (p.Lys193=) rs17019144 0.09257
NM_002076.4(GNS):c.363G>A (p.Lys121=) rs2230291 0.09139
NM_000251.3(MSH2):c.1511-9A>T rs12998837 0.09123
NM_020320.5(RARS2):c.872A>G (p.Lys291Arg) rs17850652 0.09110
NM_001206641.3(COA6):c.213-4A>G rs73099933 0.09041
NM_025243.4(SLC19A3):c.1049T>C (p.Val350Ala) rs34507036 0.09001
NM_016013.4(NDUFAF1):c.909G>A (p.Val303=) rs73407109 0.08960
NM_000528.4(MAN2B1):c.1238A>G (p.Asn413Ser) rs35836657 0.08930
NM_001931.5(DLAT):c.1678-32_1678-31insAA rs112722744 0.08907
NM_004563.4(PCK2):c.1562G>A (p.Arg521His) rs35618680 0.08888
NM_000158.4(GBE1):c.342C>T (p.Tyr114=) rs13320194 0.08854
NM_000405.5(GM2A):c.*28C>T rs9324685 0.08802
NM_000512.5(GALNS):c.634-20C>T rs17603837 0.08794
NM_000271.5(NPC1):c.-22A>C rs2303880 0.08768
NM_153033.5(KCTD7):c.267G>A (p.Thr89=) rs3764904 0.08655
NM_018127.7(ELAC2):c.1893A>G (p.Thr631=) rs17552022 0.08581
NM_002617.4(PEX10):c.913-4G>A rs11586985 0.08566
NM_014363.6(SACS):c.696T>A (p.Asn232Lys) rs2031640 0.08558
NM_014363.6(SACS):c.1656A>G (p.Leu552=) rs1536365 0.08543
NM_003659.4(AGPS):c.1856-16G>T rs3213945 0.08514
NM_001011719.2(ARSH):c.192C>T (p.Thr64=) rs77183343 0.08505
NM_001698.3(AUH):c.331-6G>A rs10991898 0.08502
NM_001080449.3(DNA2):c.357G>A (p.Leu119=) rs10998205 0.08483
NM_007215.4(POLG2):c.1269C>T (p.Ser423=) rs61733782 0.08470
NM_016292.3(TRAP1):c.2052C>T (p.Asp684=) rs1059857 0.08453
NM_004655.4(AXIN2):c.956+16A>G rs35285779 0.08430
NM_001909.5(CTSD):c.465T>C (p.Thr155=) rs11555039 0.08387
NM_001398.3(ECH1):c.649G>A (p.Gly217Arg) rs2229259 0.08366
NM_000251.3(MSH2):c.2006-6T>C rs2303428 0.08349
NM_000179.3(MSH6):c.3172+171C>T rs3136337 0.08328
NM_000033.4(ABCD1):c.1548G>A (p.Leu516=) rs41314153 0.08321
NM_182476.3(COQ6):c.1016A>T (p.Asp339Val) rs2074930 0.08198
NM_006351.4(TIMM44):c.1128+3A>G rs34425383 0.08169
NM_002047.4(GARS1):c.2145A>G (p.Thr715=) rs4593 0.08113
NM_001371596.2(MFSD8):c.1268C>T (p.Ala423Val) rs3733319 0.08088
NM_000199.5(SGSH):c.1081G>A (p.Val361Ile) rs9894254 0.07931
NM_025219.3(DNAJC5):c.321+20C>T rs2295436 0.07912
NM_006351.4(TIMM44):c.1305C>T (p.Tyr435=) rs11542188 0.07888
NM_006493.4(CLN5):c.-76A>G rs7987664 0.07840
NM_000466.3(PEX1):c.1804-28G>A rs10236856 0.07802
NM_025219.3(DNAJC5):c.322-10C>T rs78457562 0.07717
NM_001351132.2(PEX5):c.846+27C>A rs61573078 0.07716
NM_003366.4(UQCRC2):c.1281G>A (p.Ala427=) rs7282 0.07713
NM_004315.6(ASAH1):c.107G>A (p.Ser36Asn) rs13263632 0.07681
NM_002168.4(IDH2):c.996C>T (p.Ser332=) rs61737003 0.07655
NM_000179.3(MSH6):c.642C>T (p.Tyr214=) rs1800937 0.07457
NM_000535.7(PMS2):c.59G>A (p.Arg20Gln) rs10254120 0.07445
NM_020686.6(ABAT):c.1270-4A>G rs12447235 0.07354
NM_000287.4(PEX6):c.2426C>T (p.Ala809Val) rs35830695 0.07353
NM_000038.6(APC):c.136-53T>C rs2304793 0.07347
NM_000546.6(TP53):c.97-29C>A rs17883323 0.07310
NM_005670.4(EPM2A):c.-15C>A rs7771112 0.07210
NM_000528.4(MAN2B1):c.1441G>T (p.Ala481Ser) rs34544747 0.07202
NM_139242.4(MTFMT):c.14T>C (p.Val5Ala) rs2946655 0.07188
NM_018060.4(IARS2):c.268-7A>T rs78836180 0.07149
NM_002863.5(PYGL):c.153C>T (p.Asp51=) rs77316189 0.07133
NM_000405.5(GM2A):c.458T>C (p.Val153Ala) rs61740602 0.07011
NM_000156.6(GAMT):c.626C>T (p.Thr209Met) rs17851582 0.07010
NM_001193313.2(SUGCT):c.485-6T>C rs76667176 0.06983
NM_001386393.1(PANK2):c.2T>A rs71647828 0.06976
NM_032609.3(COX4I2):c.482G>A (p.Arg161His) rs11907253 0.06954
NM_016203.4(PRKAG2):c.467-21T>C rs116226629 0.06939
NM_003793.4(CTSF):c.722-5C>T rs78871927 0.06870
NM_018006.5(TRMU):c.1176G>A (p.Thr392=) rs34591580 0.06826
NM_005262.3(GFER):c.496T>C (p.Phe166Leu) rs36041021 0.06816
NM_000521.4(HEXB):c.772-4A>G rs17561000 0.06806
NM_004035.7(ACOX1):c.1320T>C (p.Asp440=) rs8065946 0.06791
NM_005262.3(GFER):c.588C>T (p.Arg196=) rs1802834 0.06784
NM_004035.7(ACOX1):c.944+22G>A rs16968347 0.06781
NM_001278716.2(FBXL4):c.1569G>A (p.Gly523=) rs11537982 0.06744
NM_001909.5(CTSD):c.353-17C>T rs7126177 0.06731
NM_000158.4(GBE1):c.1519A>G (p.Thr507Ala) rs2228389 0.06703
NM_020442.6(VARS2):c.190G>A (p.Gly64Arg) rs6926723 0.06682
NM_020442.6(VARS2):c.76C>T (p.His26Tyr) rs6926224 0.06678
NM_000038.6(APC):c.645+32C>T rs2909961 0.06662
NM_018122.5(DARS2):c.1750+19T>G rs57068378 0.06626
NM_002979.5(SCP2):c.609A>G (p.Glu203=) rs41294530 0.06615
NM_005984.5(SLC25A1):c.279T>C (p.Gly93=) rs2070255 0.06611
NM_000169.3(GLA):c.-12G>A rs3027585 0.06554
NM_004329.3(BMPR1A):c.431-26T>A rs7920259 0.06507
NM_001011719.2(ARSH):c.1160C>T (p.Thr387Met) rs61751925 0.06487
NM_001377299.1(NDUFS2):c.1054C>G (p.Pro352Ala) rs11576415 0.06461
NM_015488.5(PNKD):c.486G>A (p.Gly162=) rs34014804 0.06442
NM_000169.3(GLA):c.-10C>T rs2071225 0.06441
NM_000126.4(ETFA):c.512C>T (p.Thr171Ile) rs1801591 0.06414
NM_000152.5(GAA):c.1754+12G>A rs2304840 0.06396
NM_001303.4(COX10):c.184A>T (p.Thr62Ser) rs2230351 0.06303
NM_002693.3(POLG):c.3708G>T (p.Gln1236His) rs3087374 0.06272
NM_016292.3(TRAP1):c.37C>T (p.Arg13Cys) rs737260 0.06219
NM_000289.6(PFKM):c.246G>A (p.Thr82=) rs2228501 0.06196
NM_002863.5(PYGL):c.529-22G>A rs41317304 0.06174
NM_017827.4(SARS2):c.103A>G (p.Thr35Ala) rs34264048 0.06166
NM_000287.4(PEX6):c.2364G>A (p.Val788=) rs2274515 0.06152
NM_001909.5(CTSD):c.173C>T (p.Ala58Val) rs17571 0.06134
NM_001909.5(CTSD):c.231C>T (p.Ala77=) rs2230067 0.06127
NM_000108.5(DLD):c.684+7G>A rs75123588 0.06110
NM_003366.4(UQCRC2):c.761G>A (p.Arg254His) rs11863893 0.06087
NM_000249.4(MLH1):c.1668-185T>C rs9858264 0.06044
NM_020533.3(MCOLN1):c.966A>C (p.Arg322=) rs61736600 0.06042
NM_006351.4(TIMM44):c.45+8G>A rs12985279 0.06040
NM_006351.4(TIMM44):c.863-8C>T rs55991628 0.06008
NM_001351132.2(PEX5):c.551+23G>A rs12303709 0.05996
NM_004937.3(CTNS):c.-634C>T rs138913261 0.05988
NM_000487.6(ARSA):c.459C>T (p.His153=) rs6151412 0.05937
NM_000262.3(NAGA):c.957+4C>G rs55715427 0.05864
NM_022915.5(MRPL44):c.624T>C (p.Pro208=) rs35331337 0.05850
NM_002979.5(SCP2):c.*7C>A rs10888761 0.05835
NM_006493.4(CLN5):c.173+18C>T rs112141862 0.05807
NM_007294.4(BRCA1):c.2077G>A (p.Asp693Asn) rs4986850 0.05782
NM_000152.5(GAA):c.2446G>A (p.Val816Ile) rs1800314 0.05752
NM_000535.7(PMS2):c.1454C>A (p.Thr485Lys) rs1805323 0.05742
NM_005006.7(NDUFS1):c.414T>C (p.Asp138=) rs11548670 0.05713
NM_006859.4(LIAS):c.507A>G (p.Glu169=) rs35086467 0.05609
NM_001079866.2(BCS1L):c.996C>T (p.Asn332=) rs33946522 0.05607
NM_000308.4(CTSA):c.219C>G (p.Pro73=) rs742035 0.05580
NM_000249.4(MLH1):c.1558+14G>A rs41562513 0.05554
NM_000152.5(GAA):c.*3G>A rs1800317 0.05534
NM_024407.5(NDUFS7):c.408+10G>T rs2074896 0.05515
NM_001303.4(COX10):c.33C>T (p.Arg11=) rs8076787 0.05496
NM_003172.4(SURF1):c.573C>G (p.Thr191=) rs28715079 0.05492
NM_000046.5(ARSB):c.972A>G (p.Gly324=) rs72762973 0.05483
NM_005138.3(SCO2):c.582C>T (p.Ser194=) rs131811 0.05449
NM_000528.4(MAN2B1):c.747C>T (p.Thr249=) rs61737536 0.05436
NM_001278716.2(FBXL4):c.465C>T (p.Leu155=) rs1011676 0.05403
NM_000642.3(AGL):c.3343G>A (p.Gly1115Arg) rs2230307 0.05399
NM_001042631.3(SDHAF1):c.333C>G (p.Arg111=) rs76336581 0.05399
NM_006012.4(CLPP):c.-5G>A rs75589928 0.05394
NM_012434.5(SLC17A5):c.606A>G (p.Ser202=) rs3757112 0.05389
NM_012434.5(SLC17A5):c.292-22T>C rs12206001 0.05386
NM_001909.5(CTSD):c.828-17G>A rs78735768 0.05315
NM_002168.4(IDH2):c.1050C>T (p.Thr350=) rs11540478 0.05301
NM_000487.6(ARSA):c.585G>T (p.Trp195Cys) rs6151415 0.05295
NM_000152.5(GAA):c.1888+21G>A rs2304837 0.05276
NM_004937.3(CTNS):c.462T>C (p.Ser154=) rs77453839 0.05257
NM_000512.5(GALNS):c.1177G>T (p.Ala393Ser) rs2303269 0.05170
NM_007103.4(NDUFV1):c.1056T>C (p.Ala352=) rs11227859 0.05117
NM_003477.3(PDHX):c.339C>T (p.Ile113=) rs34582941 0.05105
NM_007103.4(NDUFV1):c.549C>G (p.Gly183=) rs10896187 0.05020
NM_000046.5(ARSB):c.1362G>A (p.Pro454=) rs35757003 0.04998
NM_003477.3(PDHX):c.241+3G>A rs78878052 0.04995
NM_002633.3(PGM1):c.1501G>A (p.Val501Ile) rs6676290 0.04986
NM_003172.4(SURF1):c.280T>C (p.Leu94=) rs28615629 0.04975
NM_016203.4(PRKAG2):c.114+12C>T rs77902041 0.04935
NM_016035.5(COQ4):c.59G>A (p.Arg20Gln) rs9697215 0.04933
NM_000512.5(GALNS):c.758+22C>T rs78317153 0.04917
NM_002047.4(GARS1):c.1613+9T>C rs75855065 0.04917
NM_025150.5(TARS2):c.81C>T (p.Thr27=) rs2275245 0.04914
NM_000203.5(IDUA):c.891C>T (p.Asn297=) rs114806891 0.04874
NM_016292.3(TRAP1):c.1032C>T (p.Tyr344=) rs11541712 0.04855
NM_016065.4(MRPS16):c.34T>C (p.Tyr12His) rs7905009 0.04804
NM_001048174.2(MUTYH):c.22G>A (p.Val8Met) rs3219484 0.04794
NM_002087.4(GRN):c.835+7G>A rs72824736 0.04753
NM_020549.5(CHAT):c.727C>T (p.Leu243Phe) rs8178990 0.04717
NM_000487.6(ARSA):c.1493G>A (p.Arg498His) rs6151428 0.04709
NM_007294.4(BRCA1):c.1067A>G (p.Gln356Arg) rs1799950 0.04695
NM_021830.5(TWNK):c.1102G>A (p.Val368Ile) rs17113613 0.04615
NM_002863.5(PYGL):c.93T>C (p.Ser31=) rs17123244 0.04608
NM_001689.5(ATP5MC3):c.348T>C (p.Tyr116=) rs8106 0.04571
NM_001011719.2(ARSH):c.147C>T (p.Leu49=) rs79487908 0.04567
NM_018060.4(IARS2):c.41C>T (p.Ala14Val) rs2577154 0.04558
NM_000512.5(GALNS):c.898+25C>G rs113936280 0.04554
NM_152269.5(MTRFR):c.273C>T (p.Ile91=) rs2280424 0.04534
NM_001931.5(DLAT):c.626A>G (p.Gln209Arg) rs11553595 0.04510
NM_000512.5(GALNS):c.599C>T (p.Thr200Met) rs7187889 0.04495
NM_000199.5(SGSH):c.746-4A>G rs7218267 0.04487
NM_033159.4(HYAL1):c.766G>A (p.Gly256Arg) rs116482870 0.04448
NM_000152.5(GAA):c.2780C>T (p.Thr927Ile) rs1800315 0.04402
NM_000642.3(AGL):c.686A>G (p.Gln229Arg) rs17121403 0.04398
NM_000535.7(PMS2):c.2006+6G>A rs111905775 0.04390
NM_000059.4(BRCA2):c.2971A>G (p.Asn991Asp) rs1799944 0.04357
NM_000108.5(DLD):c.1351C>T (p.Leu451=) rs1803921 0.04354
NM_000512.5(GALNS):c.692C>G (p.Ala231Gly) rs34745339 0.04350
NM_005908.4(MANBA):c.831A>G (p.Leu277=) rs17033168 0.04331
NM_000391.4(TPP1):c.441A>G (p.Glu147=) rs2555170 0.04313
NM_003501.3(ACOX3):c.1489G>A (p.Asp497Asn) rs13434465 0.04307
NM_004329.3(BMPR1A):c.435G>A (p.Pro145=) rs11818239 0.04296
NM_004565.3(PEX14):c.1014C>T (p.Asp338=) rs2128414 0.04291
NM_000310.4(PPT1):c.401T>C (p.Ile134Thr) rs1800205 0.04289
NM_001193313.2(SUGCT):c.889-7C>A rs6960628 0.04276
NM_012123.4(MTO1):c.1918-7T>G rs73452515 0.04248
NM_004655.4(AXIN2):c.432T>C (p.Ile144=) rs2240307 0.04207
NM_004046.6(ATP5F1A):c.140-4A>G rs73440247 0.04185
NM_004329.3(BMPR1A):c.675+12G>A rs12267107 0.04183
NM_002047.4(GARS1):c.1833T>C (p.Val611=) rs14270 0.04182
NM_002047.4(GARS1):c.1062T>C (p.Phe354=) rs11553502 0.04180
NM_020247.5(COQ8A):c.255T>G (p.His85Gln) rs2297411 0.04148
NM_016292.3(TRAP1):c.1166-11_1166-10insC rs150223681 0.04115
NM_000414.4(HSD17B4):c.739+23T>C rs6895345 0.04079
NM_002633.3(PGM1):c.1145-7C>G rs72922609 0.04055
NM_000152.3(GAA):c.2065G>A (p.Glu689Lys) rs1800309 0.04051
NM_022089.4(ATP13A2):c.1005C>T (p.Ala335=) rs56290406 0.04044
NM_016292.3(TRAP1):c.543+6C>T rs61753379 0.04037
NM_004130.4(GYG1):c.114C>T (p.Leu38=) rs61733452 0.04021
NM_001953.5(TYMP):c.1393G>A (p.Ala465Thr) rs112723255 0.04015
NM_000169.2(GLA):c.-105A>G rs3027583 0.04009
NM_001752.4(CAT):c.1255C>T (p.Leu419=) rs704724 0.03951
NM_000046.5(ARSB):c.1151G>A (p.Ser384Asn) rs25414 0.03947
NM_000535.7(PMS2):c.288C>T (p.Ala96=) rs12532895 0.03944
NM_016203.4(PRKAG2):c.1623T>C (p.Ile541=) rs28763998 0.03936
NM_000156.6(GAMT):c.571-6G>A rs2074899 0.03927
NM_002541.4(OGDH):c.3052G>A (p.Val1018Ile) rs2070607 0.03912
NM_004360.5(CDH1):c.531+10G>C rs33963999 0.03907
NM_001193313.2(SUGCT):c.54C>A (p.Ser18=) rs7793074 0.03905
NM_001011719.2(ARSH):c.653C>T (p.Thr218Ile) rs61997197 0.03870
NM_000059.4(BRCA2):c.10234A>G (p.Ile3412Val) rs1801426 0.03864
NM_001011719.2(ARSH):c.387T>C (p.Cys129=) rs143359225 0.03848
NM_001011719.2(ARSH):c.641G>A (p.Ser214Asn) rs61995728 0.03847
NM_016098.4(MPC1):c.303C>T (p.His101=) rs12205572 0.03829
NM_002541.4(OGDH):c.345A>G (p.Glu115=) rs11557280 0.03827
NM_002541.4(OGDH):c.2988C>T (p.Thr996=) rs61756583 0.03821
NM_000414.4(HSD17B4):c.2199C>T (p.Tyr733=) rs12714 0.03803
NM_022089.4(ATP13A2):c.3144C>G (p.Thr1048=) rs56126202 0.03793
NM_002541.4(OGDH):c.3063C>T (p.Asn1021=) rs61756584 0.03755
NM_000512.5(GALNS):c.846C>T (p.Phe282=) rs35232749 0.03726
NM_000059.4(BRCA2):c.2229T>C (p.His743=) rs1801499 0.03698
NM_002076.4(GNS):c.1650T>C (p.His550=) rs2230292 0.03695
NM_000512.5(GALNS):c.510T>C (p.Tyr170=) rs3743544 0.03694
NM_000059.4(BRCA2):c.865A>C (p.Asn289His) rs766173 0.03693
NM_152783.5(D2HGDH):c.1107T>C (p.Asp369=) rs141343442 0.03691
NM_000059.4(BRCA2):c.1365A>G (p.Ser455=) rs1801439 0.03688
NM_001080449.3(DNA2):c.1971G>A (p.Thr657=) rs61855090 0.03682
NM_000543.5(SMPD1):c.714A>G (p.Ala238=) rs2682091 0.03664
NM_000318.3(PEX2):c.24G>A (p.Ala8=) rs9298285 0.03660
NM_006493.4(CLN5):c.173+8C>T rs9565308 0.03653
NM_152419.3(HGSNAT):c.1567A>C (p.Lys523Gln) rs73569592 0.03631
NM_002055.5(GFAP):c.141G>A (p.Pro47=) rs2229011 0.03629
NM_198834.3(ACACA):c.6444A>C (p.Arg2148=) rs55811414 0.03612
NM_000405.5(GM2A):c.55G>A (p.Ala19Thr) rs1048719 0.03595
NM_005609.4(PYGM):c.1494C>T (p.Pro498=) rs11231865 0.03592
NM_000512.5(GALNS):c.1376C>T (p.Ala459Val) rs114703967 0.03559
NM_001398.3(ECH1):c.-2C>A rs117820732 0.03502
NM_003366.4(UQCRC2):c.1048-7G>C rs9924667 0.03491
NM_001953.5(TYMP):c.831G>A (p.Leu277=) rs8141558 0.03453
NM_002103.5(GYS1):c.493-22G>T rs111792937 0.03453
NM_002617.4(PEX10):c.*11G>A rs3795270 0.03427
NM_017775.4(TTC19):c.573G>A (p.Ala191=) rs58517927 0.03420
NM_000520.6(HEXA):c.1195A>G (p.Asn399Asp) rs1800430 0.03370
NM_004360.5(CDH1):c.48+5C>G rs77312180 0.03370
NM_000466.3(PEX1):c.473-18G>A rs2066743 0.03344
NM_004937.3(CTNS):c.970+15G>A rs76153698 0.03340
NM_182760.4(SUMF1):c.445-22T>C rs711634 0.03328
NM_177924.5(ASAH1):c.372T>A (p.Asp124Glu) rs2472205 0.03317
NM_014363.6(SACS):c.909A>G (p.Ala303=) rs41315020 0.03313
NM_001040716.2(PC):c.2224-9T>G rs45560936 0.03311
NM_002055.5(GFAP):c.883G>A (p.Asp295Asn) rs1126642 0.03309
NM_018060.4(IARS2):c.1726A>G (p.Lys576Glu) rs78770848 0.03301
NM_152416.4(NDUFAF6):c.581-4A>T rs60724818 0.03292
NM_025243.4(SLC19A3):c.520G>A (p.Val174Ile) rs59736804 0.03276
NM_004315.6(ASAH1):c.-22T>C rs140826556 0.03237
NM_000249.4(MLH1):c.454-51T>C rs4647255 0.03218
NM_003705.5(SLC25A12):c.1418G>A (p.Arg473Gln) rs35565687 0.03207
NM_181705.4(LYRM7):c.42G>A (p.Leu14=) rs113642581 0.03207
NM_004208.4(AIFM1):c.918C>T (p.Ile306=) rs12014115 0.03205
NM_002541.4(OGDH):c.396G>A (p.Ser132=) rs41280648 0.03200
NM_130837.3(OPA1):c.1773A>C (p.Ala591=) rs78767626 0.03184
NM_002635.4(SLC25A3):c.436T>C (p.Leu146=) rs11544648 0.03180
NM_001080449.3(DNA2):c.2782G>A (p.Val928Ile) rs75569266 0.03176
NM_000036.3(AMPD1):c.215+10G>A rs6683173 0.03175
NM_001610.4(ACP2):c.495G>A (p.Leu165=) rs10838677 0.03170
NM_018006.5(TRMU):c.552C>T (p.Ala184=) rs35772382 0.03164
NM_000143.4(FH):c.1302C>T (p.Cys434=) rs2070080 0.03163
NM_000153.4(GALC):c.330C>T (p.Asp110=) rs11552556 0.03162
NM_000251.3(MSH2):c.1661+90T>C rs10183143 0.03147
NM_000414.4(HSD17B4):c.2182A>G (p.Met728Val) rs28943594 0.03090
NM_020686.6(ABAT):c.129G>A (p.Gly43=) rs2228081 0.03085
NM_003501.3(ACOX3):c.1653+4A>C rs62286003 0.03078
NM_004208.4(AIFM1):c.996A>G (p.Gln332=) rs12007545 0.03061
NM_006493.4(CLN5):c.1041T>C (p.Pro347=) rs36038805 0.03060
NM_000520.6(HEXA):c.9C>T (p.Ser3=) rs1800428 0.03048
NM_020320.5(RARS2):c.703G>A (p.Val235Met) rs35862137 0.03019
NM_000038.6(APC):c.7704A>G (p.Gly2568=) rs35043160 0.02992
NM_024312.5(GNPTAB):c.3602+8C>A rs79493678 0.02992
NM_002693.3(POLG):c.2958C>T (p.Tyr986=) rs2307431 0.02985
NM_001040108.2(MLH3):c.2159A>G (p.Tyr720Cys) rs28756988 0.02978
NM_000292.3(PHKA2):c.2361-12A>C rs148877451 0.02944
NM_020686.6(ABAT):c.1147C>T (p.Leu383=) rs2229158 0.02911
NM_018127.7(ELAC2):c.1621G>A (p.Ala541Thr) rs5030739 0.02886
NM_000143.4(FH):c.309C>T (p.Ala103=) rs10926501 0.02876
NM_133259.4(LRPPRC):c.3570-3C>T rs35113761 0.02876
NM_006012.4(CLPP):c.405G>A (p.Thr135=) rs7260547 0.02865
NM_020312.4(COQ9):c.102G>A (p.Pro34=) rs223864 0.02864
NM_014363.6(SACS):c.1839G>A (p.Gln613=) rs35840595 0.02863
NM_018006.5(TRMU):c.927C>T (p.Arg309=) rs9627420 0.02832
NM_002633.3(PGM1):c.1280+7C>T rs72922610 0.02818
NM_004563.4(PCK2):c.372T>C (p.Pro124=) rs2229661 0.02789
NM_001370595.2(COA8):c.8T>C (p.Val3Ala) rs61733762 0.02769
NM_152783.5(D2HGDH):c.1395G>A (p.Thr465=) rs111670322 0.02768
NM_053013.4(ENO3):c.1236-17C>T rs77614413 0.02756
NM_053013.4(ENO3):c.240+17G>A rs75279666 0.02755
NM_001080449.3(DNA2):c.1362G>A (p.Ser454=) rs74537378 0.02747
NM_015713.5(RRM2B):c.207C>T (p.Val69=) rs28999710 0.02727
NM_000391.4(TPP1):c.381-10dup rs146315473 0.02726
NM_005138.3(SCO2):c.327C>T (p.His109=) rs75485962 0.02713
NM_002637.4(PHKA1):c.429C>T (p.Leu143=) rs138066694 0.02710
NM_002294.3(LAMP2):c.927C>T (p.Ser309=) rs73219144 0.02702
NM_000251.3(MSH2):c.1760-62G>A rs17218439 0.02701
NM_018122.5(DARS2):c.587A>G (p.Lys196Arg) rs35515638 0.02693
NM_018122.5(DARS2):c.663+8T>C rs73037062 0.02691
NM_016013.4(NDUFAF1):c.526G>A (p.Glu176Lys) rs35227875 0.02686
NM_001931.5(DLAT):c.693C>T (p.Thr231=) rs34680691 0.02685
NM_145691.4(ATPAF2):c.738G>A (p.Gln246=) rs33997182 0.02668
NM_014049.5(ACAD9):c.976G>A (p.Ala326Thr) rs115532916 0.02662
NM_003477.3(PDHX):c.641+4T>C rs2767035 0.02645
NM_002087.4(GRN):c.384T>C (p.Asp128=) rs25646 0.02616
NM_006567.5(FARS2):c.339C>T (p.Tyr113=) rs41302853 0.02609
NM_014324.6(AMACR):c.712C>T (p.Pro238Ser) rs9282594 0.02606
NM_000455.5(STK11):c.816C>T (p.Tyr272=) rs9282859 0.02603
NM_001398.3(ECH1):c.349+27C>G rs79994604 0.02596
NM_006859.4(LIAS):c.306C>A (p.Leu102=) rs61731032 0.02579
NM_004563.4(PCK2):c.1230A>G (p.Lys410=) rs2301336 0.02556
NM_000528.4(MAN2B1):c.2310C>T (p.Pro770=) rs35880640 0.02554
NM_002857.4(PEX19):c.433-11G>T rs41265791 0.02551
NM_021957.4(GYS2):c.2067C>T (p.His689=) rs7954038 0.02548
NM_021957.4(GYS2):c.1464A>G (p.Leu488=) rs35403985 0.02543
NM_000262.3(NAGA):c.*12A>C rs2229547 0.02530
NM_005609.4(PYGM):c.425-22C>T rs61884454 0.02517
NM_001083614.2(EARS2):c.984G>A (p.Pro328=) rs77939239 0.02510
NM_000310.4(PPT1):c.837G>C (p.Gln279His) rs72937434 0.02506
NM_003501.3(ACOX3):c.1897-6C>T rs41264709 0.02501
NM_004813.4(PEX16):c.303C>T (p.Ala101=) rs80275010 0.02501
NM_152783.5(D2HGDH):c.292+9G>A rs148813816 0.02496
NM_152419.3(HGSNAT):c.1840G>A (p.Val614Ile) rs73675469 0.02491
NM_000292.3(PHKA2):c.1041+22C>T rs41304737 0.02488
NM_000199.5(SGSH):c.1116G>A (p.Met372Ile) rs58786455 0.02463
NM_133259.4(LRPPRC):c.41C>G (p.Ala14Gly) rs114205971 0.02459
NM_002055.5(GFAP):c.*16G>A rs113487550 0.02451
NM_000290.4(PGAM2):c.341T>G (p.Ile114Ser) rs61756062 0.02444
NM_139242.4(MTFMT):c.1065G>A (p.Gln355=) rs35477493 0.02430
NM_000143.4(FH):c.927G>A (p.Pro309=) rs61737760 0.02428
NM_000487.6(ARSA):c.243C>T (p.Gly81=) rs6151410 0.02425
NM_001739.2(CA5A):c.135T>A (p.Asn45Lys) rs77325391 0.02424
NM_014363.6(SACS):c.11032C>G (p.Pro3678Ala) rs17078601 0.02418
NM_000434.4(NEU1):c.263G>C (p.Gly88Ala) rs34712643 0.02415
NM_130837.3(OPA1):c.629C>T (p.Ala210Val) rs34307082 0.02411
NM_004329.3(BMPR1A):c.1342+6A>G rs55763614 0.02404
NM_000151.4(G6PC1):c.432G>A (p.Pro144=) rs161628 0.02402
NM_000157.4(GBA1):c.38A>G (p.Lys13Arg) rs150466109 0.02394
NM_003850.3(SUCLA2):c.110T>G (p.Leu37Trp) rs62636645 0.02383
NM_024876.4(COQ8B):c.648C>T (p.Ala216=) rs4803357 0.02373
NM_005908.4(MANBA):c.1482G>T (p.Leu494=) rs74718667 0.02371
NM_001278716.2(FBXL4):c.105T>A (p.His35Gln) rs34316889 0.02361
NM_006796.3(AFG3L2):c.1026+8G>A rs8091858 0.02347
NM_004046.6(ATP5F1A):c.94G>T (p.Ala32Ser) rs79011243 0.02330
NM_000251.3(MSH2):c.380A>G (p.Asn127Ser) rs17217772 0.02317
NM_001048174.2(MUTYH):c.115+30A>G rs3219485 0.02310
NM_000535.7(PMS2):c.1488C>T (p.His496=) rs1805320 0.02307
NM_003477.3(PDHX):c.507C>T (p.Ile169=) rs79170416 0.02292
NM_000414.4(HSD17B4):c.1791C>T (p.Val597=) rs2560722 0.02288
NM_000414.4(HSD17B4):c.875C>G (p.Thr292Ser) rs1143650 0.02248
NM_024312.5(GNPTAB):c.1612+28T>C rs74389509 0.02246
NM_024312.5(GNPTAB):c.3693+10A>T rs76021817 0.02246
NM_004563.4(PCK2):c.6C>T (p.Ala2=) rs77298044 0.02238
NM_001351132.2(PEX5):c.815T>C (p.Met272Thr) rs76708142 0.02223
NM_015488.5(PNKD):c.652C>A (p.Arg218=) rs34745867 0.02221
NM_000535.7(PMS2):c.1531A>G (p.Thr511Ala) rs2228007 0.02174
NM_020549.5(CHAT):c.141C>G (p.Asp47Glu) rs3810948 0.02150
NM_000144.5(FXN):c.-7G>A rs145006100 0.02101
NM_000059.4(BRCA2):c.7397= (p.Val2466=) rs169547 0.02098
NM_000263.4(NAGLU):c.421T>A (p.Ser141Thr) rs61737294 0.02098
NM_002863.5(PYGL):c.772+16G>T rs17123173 0.02096
NM_000287.4(PEX6):c.2644G>A (p.Val882Ile) rs2274516 0.02086
NM_021957.4(GYS2):c.1965G>C (p.Gln655His) rs117639846 0.02061
NM_001040108.2(MLH3):c.2390G>A (p.Arg797His) rs28756991 0.02060
NM_000528.4(MAN2B1):c.2267+3G>C rs28639634 0.02031
NM_000271.5(NPC1):c.1554-1021A>T rs73392141 0.02008
NM_000179.3(MSH6):c.2253T>C (p.Asn751=) rs2020913 0.02003
NM_014297.5(ETHE1):c.61G>T (p.Ala21Ser) rs116440799 0.01995
NM_000289.6(PFKM):c.1342-14G>T rs56117548 0.01990
NM_020533.3(MCOLN1):c.405+13G>A rs73488492 0.01978
NM_001303.4(COX10):c.83C>T (p.Thr28Ile) rs16948978 0.01976
NM_000251.3(MSH2):c.573C>T (p.Leu191=) rs1800151 0.01972
NM_000512.5(GALNS):c.318C>T (p.Asn106=) rs34278797 0.01971
NM_000391.4(TPP1):c.1266+5G>A rs1800753 0.01932
NM_006796.3(AFG3L2):c.*2G>A rs113981080 0.01903
NM_000642.3(AGL):c.1185+15T>C rs17121466 0.01894
NM_000466.3(PEX1):c.2784-23G>A rs117514298 0.01886
NM_020312.4(COQ9):c.864G>C (p.Lys288Asn) rs61730662 0.01873
NM_133259.4(LRPPRC):c.1432A>G (p.Thr478Ala) rs35035668 0.01872
NM_000543.5(SMPD1):c.1749G>A (p.Ser583=) rs35098198 0.01843
NM_000038.6(APC):c.220+124C>G rs76552546 0.01839
NM_000059.4(BRCA2):c.5744C>T (p.Thr1915Met) rs4987117 0.01834
NM_174889.5(NDUFAF2):c.462T>C (p.Phe154=) rs77878573 0.01828
NM_016013.4(NDUFAF1):c.558A>G (p.Ile186Met) rs34979001 0.01822
NM_004813.4(PEX16):c.307G>A (p.Val103Met) rs11553094 0.01821
NM_000153.4(GALC):c.1338+23T>C rs74076317 0.01816
NM_018122.5(DARS2):c.397-6T>G rs115051769 0.01810
NM_182476.3(COQ6):c.278G>A (p.Gly93Asp) rs61743864 0.01810
NM_018006.5(TRMU):c.*8G>C rs55905826 0.01809
NM_182760.4(SUMF1):c.602+13C>T rs80204284 0.01808
NM_006351.4(TIMM44):c.396C>T (p.Ser132=) rs55715900 0.01798
NM_000153.4(GALC):c.1072C>T (p.Leu358=) rs74073730 0.01792
NM_152783.5(D2HGDH):c.1066C>T (p.His356Tyr) rs144668507 0.01790
NM_001002755.4(NFU1):c.62+9C>T rs114846829 0.01785
NM_000181.4(GUSB):c.-12G>A rs2279903 0.01784
NM_003477.3(PDHX):c.531C>T (p.Pro177=) rs76486106 0.01781
NM_005609.4(PYGM):c.1184C>T (p.Thr395Met) rs71581787 0.01778
NM_012062.5(DNM1L):c.1968C>T (p.Leu656=) rs148634653 0.01775
NM_001303.4(COX10):c.290A>G (p.Tyr97Cys) rs16948986 0.01758
NM_000310.4(PPT1):c.124+18T>G rs113394351 0.01757
NM_003630.3(PEX3):c.523+25A>G rs13203340 0.01751
NM_022098.4(XPNPEP3):c.111A>G (p.Pro37=) rs1894658 0.01750
NM_003477.3(PDHX):c.438C>T (p.Asp146=) rs75182779 0.01749
NM_080916.3(DGUOK):c.159G>A (p.Thr53=) rs62641680 0.01745
NM_002863.5(PYGL):c.2534A>G (p.Asn845Ser) rs78558135 0.01732
NM_004035.7(ACOX1):c.591G>A (p.Gly197=) rs75808808 0.01720
NM_000251.3(MSH2):c.965G>A (p.Gly322Asp) rs4987188 0.01714
NM_052865.4(MGME1):c.270A>G (p.Gln90=) rs73107120 0.01714
NM_001351132.2(PEX5):c.1394+22G>A rs73051959 0.01709
NM_024120.5(NDUFAF5):c.582C>T (p.Leu194=) rs117002283 0.01707
NM_139242.4(MTFMT):c.906G>A (p.Thr302=) rs34636936 0.01698
NM_000038.6(APC):c.7504G>A (p.Gly2502Ser) rs2229995 0.01693
NM_001739.2(CA5A):c.645C>T (p.Phe215=) rs149154082 0.01677
NM_002076.4(GNS):c.459+14T>C rs78614637 0.01673
NM_000271.5(NPC1):c.1503C>T (p.Asp501=) rs116046557 0.01665
NM_000535.7(PMS2):c.1866G>A (p.Met622Ile) rs1805324 0.01651
NM_000404.4(GLB1):c.325C>T (p.Arg109Trp) rs35289681 0.01618
NM_000546.6(TP53):c.993+12T>C rs1800899 0.01614
NM_000158.4(GBE1):c.1716C>T (p.Asp572=) rs2229520 0.01610
NM_053013.4(ENO3):c.993C>T (p.Ala331=) rs2230257 0.01604
NM_000251.3(MSH2):c.1386+104C>T rs17224444 0.01603
NM_000308.4(CTSA):c.1353G>A (p.Thr451=) rs25649 0.01568
NM_020549.5(CHAT):c.903T>C (p.Pro301=) rs113897064 0.01548
NM_000512.5(GALNS):c.566+10C>T rs77514811 0.01544
NM_080916.3(DGUOK):c.423G>A (p.Glu141=) rs1804599 0.01535
NM_000642.3(AGL):c.207T>C (p.Asn69=) rs2230305 0.01529
NM_000642.3(AGL):c.112A>G (p.Thr38Ala) rs35278779 0.01527
NM_002633.3(PGM1):c.1500C>T (p.Ile500=) rs61737416 0.01523
NM_002633.3(PGM1):c.1599+9C>T rs115864084 0.01520
NM_005908.4(MANBA):c.2482G>A (p.Val828Ile) rs75826658 0.01517
NM_021957.4(GYS2):c.1636A>G (p.Thr546Ala) rs61733199 0.01511
NM_018006.5(TRMU):c.442G>A (p.Glu148Lys) rs34012206 0.01506
NM_000520.6(HEXA):c.672+30T>G rs117160567 0.01494
NM_000290.4(PGAM2):c.216C>T (p.Asp72=) rs111656877 0.01481
NM_020533.3(MCOLN1):c.1360-13G>A rs2305888 0.01477
NM_002778.4(PSAP):c.1006-21C>T rs56214505 0.01471
NM_018127.7(ELAC2):c.1389C>T (p.Tyr463=) rs77972324 0.01451
NM_000642.3(AGL):c.1160G>A (p.Arg387Gln) rs17121464 0.01447
NM_016360.4(TACO1):c.433G>A (p.Gly145Ser) rs35252424 0.01444
NM_000404.4(GLB1):c.1824G>C (p.Leu608=) rs77226678 0.01441
NM_003630.3(PEX3):c.245A>G (p.Gln82Arg) rs35220041 0.01440
NM_017866.6(TMEM70):c.379A>G (p.Thr127Ala) rs61734099 0.01433
NM_000251.3(MSH2):c.1077-10T>C rs17224360 0.01428
NM_024312.5(GNPTAB):c.1482G>A (p.Gln494=) rs11111008 0.01428
NM_024312.5(GNPTAB):c.204-15G>T rs10860787 0.01423
NM_004360.5(CDH1):c.1849G>A (p.Ala617Thr) rs33935154 0.01412
NM_014363.6(SACS):c.7149C>T (p.Arg2383=) rs17078608 0.01409
NM_025150.5(TARS2):c.1317C>T (p.Ala439=) rs116476409 0.01392
NM_020247.5(COQ8A):c.993C>T (p.Phe331=) rs41303129 0.01390
NM_000179.3(MSH6):c.1164C>T (p.His388=) rs55708305 0.01384
NM_000199.5(SGSH):c.1182G>T (p.Met394Ile) rs34297805 0.01381
NM_006493.4(CLN5):c.381T>G (p.Thr127=) rs34481987 0.01377
NM_004655.4(AXIN2):c.1383C>T (p.Ser461=) rs9914661 0.01367
NM_000179.3(MSH6):c.2272C>T (p.Leu758=) rs56371757 0.01363
NM_004565.3(PEX14):c.513C>A (p.Ala171=) rs35046754 0.01363
NM_004655.4(AXIN2):c.1615G>A (p.Val539Met) rs9913621 0.01361
NM_002858.4(ABCD3):c.1158-23G>C rs79136386 0.01357
NM_015488.5(PNKD):c.939G>A (p.Arg313=) rs116144189 0.01354
NM_001040108.2(MLH3):c.691A>C (p.Lys231Gln) rs28756981 0.01348
NM_007294.4(BRCA1):c.4956G>A (p.Met1652Ile) rs1799967 0.01348
NM_025219.3(DNAJC5):c.144C>T (p.Pro48=) rs113987077 0.01342
NM_001040716.2(PC):c.2580C>T (p.Asp860=) rs45584036 0.01323
NM_014324.6(AMACR):c.782T>C (p.Met261Thr) rs3195678 0.01320
NM_020320.5(RARS2):c.63A>G (p.Pro21=) rs7748563 0.01309
NM_000249.4(MLH1):c.1039-27T>A rs9862158 0.01307
NM_024312.5(GNPTAB):c.1042A>C (p.Ile348Leu) rs7958709 0.01289
NM_001370595.2(COA8):c.351A>G (p.Leu117=) rs71417867 0.01287
NM_000059.4(BRCA2):c.8830A>T (p.Ile2944Phe) rs4987047 0.01281
NM_020247.5(COQ8A):c.63G>A (p.Ala21=) rs11549709 0.01280
NM_000546.6(TP53):c.639A>G (p.Arg213=) rs1800372 0.01275
NM_000271.5(NPC1):c.2103C>T (p.Asn701=) rs7227375 0.01251
NM_015340.4(LARS2):c.2493G>T (p.Glu831Asp) rs9827689 0.01205
NM_002693.3(POLG):c.2254C>T (p.Leu752=) rs41564016 0.01204
NM_005908.4(MANBA):c.1485+23G>A rs79449882 0.01200
NM_000271.5(NPC1):c.3246-20G>A rs6507717 0.01199
NM_002778.4(PSAP):c.-10A>G rs76455588 0.01197
NM_014236.4(GNPAT):c.1479C>T (p.Ser493=) rs35033351 0.01197
NM_000033.4(ABCD1):c.2019C>T (p.Phe673=) rs76637913 0.01192
NM_000293.3(PHKB):c.1363+13G>T rs117536391 0.01189
NM_015340.4(LARS2):c.2124T>C (p.Ser708=) rs34459812 0.01189
NM_001040716.2(PC):c.2619C>T (p.Asn873=) rs2229745 0.01182
NM_000038.6(APC):c.3732A>G (p.Gln1244=) rs74380081 0.01174
NM_000038.6(APC):c.1695A>G (p.Glu565=) rs77921116 0.01170
NM_000249.4(MLH1):c.474C>T (p.Asn158=) rs4647256 0.01161
NM_152419.3(HGSNAT):c.1727-9C>G rs76750342 0.01160
NM_000249.4(MLH1):c.1039-8T>A rs193922367 0.01153
NM_133259.4(LRPPRC):c.2562A>G (p.Val854=) rs4494798 0.01150
NM_024312.5(GNPTAB):c.1114-17T>C rs112075452 0.01149
NM_000038.6(APC):c.730-29A>T rs75083764 0.01144
NM_000038.6(APC):c.7201C>T (p.Leu2401=) rs2229994 0.01134
NM_005006.7(NDUFS1):c.1371G>A (p.Ser457=) rs2230892 0.01121
NM_000251.3(MSH2):c.2766T>C (p.Phe922=) rs55859129 0.01118
NM_000038.6(APC):c.645+61C>T rs56328836 0.01110
NM_020247.5(COQ8A):c.1053C>T (p.Gly351=) rs55958233 0.01103
NM_005670.4(EPM2A):c.163C>A (p.Gln55Lys) rs187930476 0.01101
NM_001127649.3(PEX26):c.457C>G (p.Leu153Val) rs12484657 0.01096
NM_020320.5(RARS2):c.606C>T (p.Leu202=) rs75794097 0.01095
NM_001371596.2(MFSD8):c.1153G>C (p.Gly385Arg) rs11098943 0.01088
NM_001386393.1(PANK2):c.298+24C>A rs201038465 0.01080
NM_000512.5(GALNS):c.1278G>T (p.Gly426=) rs76651187 0.01075
NM_000152.5(GAA):c.1075+13C>T rs41292402 0.01065
NM_007294.4(BRCA1):c.3418A>G (p.Ser1140Gly) rs2227945 0.01054
NM_024120.5(NDUFAF5):c.486T>C (p.His162=) rs2273317 0.01050
NM_000036.3(AMPD1):c.1224+8G>A rs140176911 0.01045
NM_022089.4(ATP13A2):c.2763-16G>A rs114407349 0.01044
NM_001271696.3(ABCB7):c.1320T>C (p.Asp440=) rs45598734 0.01040
NM_003172.4(SURF1):c.543C>T (p.Phe181=) rs62637580 0.01036
NM_213649.2(SFXN4):c.678G>A (p.Ala226=) rs34251123 0.01036
NM_003659.4(AGPS):c.147C>T (p.Pro49=) rs34442536 0.01033
NM_005908.4(MANBA):c.178-8A>G rs113584126 0.01028
NM_022089.4(ATP13A2):c.2762+29G>A rs141447403 0.01020
NM_024884.3(L2HGDH):c.840A>G (p.Pro280=) rs72683923 0.01007
NM_000512.5(GALNS):c.*3C>G rs77826920 0.01005
NM_024876.4(COQ8B):c.1119C>T (p.Phe373=) rs56056214 0.01001
NM_000038.6(APC):c.1627-93A>C rs115157960 0.00999
NM_001048174.2(MUTYH):c.1460C>T (p.Ser487Phe) rs140118273 0.00997
NM_000249.4(MLH1):c.588+11G>C rs4647258 0.00993
NM_004130.4(GYG1):c.319-12C>T rs114156848 0.00990
NM_001040108.2(MLH3):c.2825C>T (p.Thr942Ile) rs17102999 0.00989
NM_006012.4(CLPP):c.801G>A (p.Ala267=) rs112620134 0.00987
NM_003465.3(CHIT1):c.764C>G (p.Thr255Ser) rs61745299 0.00985
NM_053013.4(ENO3):c.994G>A (p.Val332Ile) rs61735456 0.00983
NM_000391.4(TPP1):c.1044C>T (p.Ala348=) rs35706972 0.00982
NM_005763.4(AASS):c.1293G>A (p.Ala431=) rs34901960 0.00976
NM_000546.6(TP53):c.108G>A (p.Pro36=) rs1800370 0.00974
NM_004360.5(CDH1):c.933C>G (p.Leu311=) rs35539711 0.00974
NM_000038.6(APC):c.1312+27G>A rs74975092 0.00973
NM_016203.4(PRKAG2):c.*3G>A rs113234987 0.00973
NM_005002.5(NDUFA9):c.13G>C (p.Ala5Pro) rs35155742 0.00971
NM_024996.7(GFM1):c.1083+6T>G rs142919829 0.00965
NM_000528.4(MAN2B1):c.2562C>G (p.Ala854=) rs10410289 0.00964
NM_001271696.3(ABCB7):c.945-7C>T rs5937938 0.00961
NM_000147.5(FUCA1):c.1148C>T (p.Thr383Ile) rs114490852 0.00944
NM_003465.3(CHIT1):c.119G>A (p.Arg40His) rs35920428 0.00936
NM_006351.4(TIMM44):c.924G>A (p.Pro308=) rs75137889 0.00933
NM_000249.4(MLH1):c.1039-26T>A rs1360955428 0.00920
NM_000108.5(DLD):c.1422A>C (p.Gly474=) rs34453495 0.00918
NM_000249.4(MLH1):c.1959G>T (p.Leu653=) rs1800146 0.00913
NM_000181.4(GUSB):c.162C>T (p.Asn54=) rs74975849 0.00909
NM_004035.7(ACOX1):c.1771C>T (p.Arg591Cys) rs35629489 0.00908
NM_001040108.2(MLH3):c.8A>G (p.Lys3Arg) rs114829239 0.00905
NM_012062.5(DNM1L):c.741-19G>A rs79520527 0.00897
NM_002541.4(OGDH):c.2784A>G (p.Thr928=) rs112309751 0.00894
NM_000391.4(TPP1):c.509-25C>T rs116069009 0.00892
NM_000391.4(TPP1):c.1266+28G>A rs115795247 0.00890
NM_000391.4(TPP1):c.299A>G (p.Gln100Arg) rs1800746 0.00889
NM_000391.4(TPP1):c.1146-24C>A rs13377445 0.00888
NM_025243.4(SLC19A3):c.756G>A (p.Leu252=) rs12185721 0.00883
NM_000038.6(APC):c.422+75T>C rs112114081 0.00876
NM_001916.5(CYC1):c.444G>C (p.Leu148=) rs35973351 0.00876
NM_000289.6(PFKM):c.747+24T>G rs149600978 0.00875
NM_000179.3(MSH6):c.3306T>A (p.Thr1102=) rs2020910 0.00869
NM_000059.4(BRCA2):c.7469T>C (p.Ile2490Thr) rs11571707 0.00868
NM_001866.3(COX7B):c.48C>A (p.Ser16Arg) rs61752458 0.00867
NM_003850.3(SUCLA2):c.1099G>A (p.Asp367Asn) rs117412559 0.00851
NM_000546.6(TP53):c.97-6C>T rs35117667 0.00847
NM_152783.5(D2HGDH):c.43C>G (p.Arg15Gly) rs4675887 0.00845
NM_001195248.2(APTX):c.318C>T (p.Asn106=) rs79254654 0.00842
NM_002047.4(GARS1):c.1163G>A (p.Arg388Gln) rs17159287 0.00833
NM_000202.8(IDS):c.467C>A (p.Pro156Gln) rs145231211 0.00832
NM_000202.8(IDS):c.465T>A (p.Phe155Leu) rs149210251 0.00829
NM_012062.5(DNM1L):c.1470A>G (p.Glu490=) rs79393011 0.00828
NM_017547.4(FOXRED1):c.433G>A (p.Val145Ile) rs34542988 0.00827
NM_133259.4(LRPPRC):c.2481A>G (p.Pro827=) rs115993634 0.00825
NM_000249.4(MLH1):c.637G>A (p.Val213Met) rs2308317 0.00818
NM_001386393.1(PANK2):c.189C>G (p.Pro63=) rs71647829 0.00808
NM_003501.3(ACOX3):c.448A>C (p.Met150Leu) rs73211315 0.00805
NM_053013.4(ENO3):c.1041C>T (p.Ile347=) rs114208569 0.00794
NM_000059.4(BRCA2):c.7017G>C (p.Lys2339Asn) rs45574331 0.00792
NM_003501.3(ACOX3):c.873+23G>A rs41264711 0.00785
NM_000293.3(PHKB):c.1364-30C>T rs60269785 0.00780
NM_000414.4(HSD17B4):c.*6A>G rs111671384 0.00777
NM_003501.3(ACOX3):c.101A>C (p.Glu34Ala) rs12513296 0.00775
NM_002693.3(POLG):c.3597C>A (p.Thr1199=) rs2307443 0.00770
NM_000059.4(BRCA2):c.1788T>C (p.Asp596=) rs11571642 0.00768
NM_003793.4(CTSF):c.1368C>T (p.Asp456=) rs148155987 0.00759
NM_000521.4(HEXB):c.214C>T (p.Leu72Phe) rs147155126 0.00758
NM_020381.4(PDSS2):c.11G>C (p.Arg4Pro) rs3734676 0.00757
NM_020381.4(PDSS2):c.7T>C (p.Phe3Leu) rs3734675 0.00756
NM_000181.4(GUSB):c.561A>G (p.Gln187=) rs74430256 0.00755
NM_005138.3(SCO2):c.763C>A (p.Arg255=) rs112793292 0.00755
NM_145261.4(DNAJC19):c.285A>C (p.Gly95=) rs17850540 0.00755
NM_000292.3(PHKA2):c.2436G>A (p.Gly812=) rs61733281 0.00738
NM_001303.4(COX10):c.682C>T (p.Arg228Cys) rs114521946 0.00727
NM_000152.5(GAA):c.2400C>T (p.Ser800=) rs115705591 0.00724
NM_003659.4(AGPS):c.1704G>A (p.Thr568=) rs36052691 0.00710
NM_006351.4(TIMM44):c.203A>G (p.Lys68Arg) rs117812409 0.00707
NM_033109.5(PNPT1):c.2070-5T>C rs145739483 0.00699
NM_014363.6(SACS):c.4188C>T (p.His1396=) rs61754477 0.00688
NM_014363.6(SACS):c.6267G>A (p.Ser2089=) rs9550956 0.00688
NM_002979.5(SCP2):c.1224G>A (p.Pro408=) rs80253221 0.00680
NM_015340.4(LARS2):c.157T>C (p.Leu53=) rs141607519 0.00680
NM_003465.3(CHIT1):c.1350C>T (p.Cys450=) rs73066396 0.00675
NM_017827.4(SARS2):c.273G>A (p.Ser91=) rs144229840 0.00672
NM_000543.5(SMPD1):c.719G>A (p.Arg240Gln) rs2634197 0.00668
NM_004563.4(PCK2):c.1216G>A (p.Gly406Ser) rs17101262 0.00668
NM_000287.4(PEX6):c.1046+28T>C rs115079699 0.00667
NM_004937.3(CTNS):c.108C>T (p.Asn36=) rs117404824 0.00664
NM_018127.7(ELAC2):c.368-4T>A rs139778647 0.00657
NM_000059.4(BRCA2):c.5704G>A rs4987048 0.00655
NM_004655.4(AXIN2):c.2282C>A (p.Ala761Asp) rs79732150 0.00649
NM_000179.3(MSH6):c.*85T>A rs2020906 0.00645
NM_000152.5(GAA):c.852G>A (p.Ala284=) rs142626724 0.00638
NM_002055.5(GFAP):c.738G>A (p.Ala246=) rs147404772 0.00636
NM_005164.4(ABCD2):c.1878-18G>C rs139846202 0.00636
NM_000157.4(GBA1):c.1223C>T (p.Thr408Met) rs75548401 0.00627
NM_001002755.4(NFU1):c.-6A>G rs116604978 0.00625
NM_000404.4(GLB1):c.793-19C>T rs114082733 0.00619
NM_025243.4(SLC19A3):c.309G>A (p.Val103=) rs142837989 0.00618
NM_033159.4(HYAL1):c.1277C>G (p.Ala426Gly) rs142342237 0.00617
NM_000059.4(BRCA2):c.4258G>T (p.Asp1420Tyr) rs28897727 0.00609
NM_000203.5(IDUA):c.296C>T (p.Thr99Ile) rs147490060 0.00596
NM_001698.3(AUH):c.77G>A (p.Cys26Tyr) rs74484860 0.00593
NM_000179.3(MSH6):c.3557-40T>A rs189436849 0.00587
NM_022089.4(ATP13A2):c.1195+10G>A rs55689004 0.00585
NM_000038.6(APC):c.1959G>A (p.Arg653=) rs72541809 0.00583
NM_000249.4(MLH1):c.589-15C>T rs55658850 0.00582
NM_130837.3(OPA1):c.420G>T (p.Val140=) rs35801538 0.00577
NM_000543.5(SMPD1):c.1071C>T (p.Ala357=) rs72896268 0.00571
NM_000038.6(APC):c.3949G>C (p.Glu1317Gln) rs1801166 0.00570
NM_000179.3(MSH6):c.1186C>G (p.Leu396Val) rs2020908 0.00565
NM_198834.3(ACACA):c.3122-6G>A rs148549486 0.00565
NM_004937.3(CTNS):c.853-28C>T rs78671385 0.00563
NM_000535.7(PMS2):c.1569C>G (p.Ser523=) rs141458772 0.00560
NM_025150.5(TARS2):c.1034A>G (p.His345Arg) rs115390773 0.00560
NM_002693.3(POLG):c.1984G>A (p.Glu662Lys) rs2307450 0.00547
NM_004046.6(ATP5F1A):c.564A>G (p.Pro188=) rs113278662 0.00534
NM_015340.4(LARS2):c.1131C>T (p.Pro377=) rs144183054 0.00518
NM_022445.4(TPK1):c.98G>A (p.Arg33His) rs77358162 0.00512
NM_000038.6(APC):c.1958+8T>C rs62626346 0.00510
NM_012123.4(MTO1):c.1894C>T (p.Leu632=) rs117757245 0.00506
NM_000535.7(PMS2):c.2445+30A>G rs549704870 0.00490
NM_000059.4(BRCA2):c.5199C>T (p.Ser1733=) rs28897734 0.00488
NM_020247.5(COQ8A):c.1185C>T (p.Ile395=) rs17849927 0.00488
NM_000251.3(MSH2):c.1666T>C (p.Leu556=) rs61756466 0.00471
NM_001398.3(ECH1):c.850G>A (p.Asp284Asn) rs58750431 0.00468
NM_002693.3(POLG):c.3198G>A (p.Thr1066=) rs61752780 0.00460
NM_000528.4(MAN2B1):c.2006C>T (p.Pro669Leu) rs75029862 0.00451
NM_000179.3(MSH6):c.2633T>C (p.Val878Ala) rs2020912 0.00448
NM_001386393.1(PANK2):c.905+22C>T rs71647841 0.00446
NM_198586.3(NHLRC1):c.303G>T (p.Pro101=) rs187783545 0.00443
NM_000179.3(MSH6):c.1345C>T (p.Leu449=) rs3136333 0.00429
NM_003465.3(CHIT1):c.1161T>C (p.Leu387=) rs73066400 0.00427
NM_000249.4(MLH1):c.545+20A>T rs121909453 0.00424
NM_002294.3(LAMP2):c.1093+2514G>A rs144140265 0.00404
NM_004655.4(AXIN2):c.2109G>A (p.Arg703=) rs116525755 0.00396
NM_002055.5(GFAP):c.619-9C>G rs3744469 0.00395
NM_004655.4(AXIN2):c.1410C>T (p.His470=) rs149483825 0.00394
NM_000038.6(APC):c.729+23T>C rs75111475 0.00381
NM_177924.5(ASAH1):c.1105G>A (p.Val369Ile) rs17636067 0.00379
NM_025215.6(PUS1):c.364C>A (p.Arg122=) rs142954643 0.00369
NM_000038.6(APC):c.7862C>G (p.Ser2621Cys) rs72541816 0.00358
NM_025150.5(TARS2):c.1453G>A (p.Val485Ile) rs116552645 0.00357
NM_000059.4(BRCA2):c.2960A>T (p.Asn987Ile) rs2227944 0.00356
NM_000059.4(BRCA2):c.2786T>C (p.Leu929Ser) rs2227943 0.00355
NM_005006.7(NDUFS1):c.1291C>G (p.Leu431Val) rs78042826 0.00353
NM_000455.5(STK11):c.1062C>G (p.Phe354Leu) rs59912467 0.00348
NM_001985.3(ETFB):c.447C>T (p.Phe149=) rs144640661 0.00334
NM_007208.4(MRPL3):c.102C>T (p.Ile34=) rs79534309 0.00334
NM_015346.4(ZFYVE26):c.7055C>T (p.Thr2352Ile) rs151166497 0.00319
NM_000251.3(MSH2):c.339G>A (p.Lys113=) rs35898375 0.00313
NM_001363118.2(SLC52A2):c.555C>T (p.Leu185=) rs74370046 0.00303
NM_000271.5(NPC1):c.540C>T (p.Asp180=) rs143656971 0.00300
NM_000059.4(BRCA2):c.4068G>A (p.Leu1356=) rs28897724 0.00295
NM_000543.5(SMPD1):c.1460C>T (p.Ala487Val) rs141641266 0.00282
NM_005359.6(SMAD4):c.249+24A>G rs77389132 0.00278
NM_001271696.3(ABCB7):c.938G>A (p.Arg313Gln) rs147584361 0.00272
NM_005359.6(SMAD4):c.455-6A>G rs181178864 0.00269
NM_004360.5(CDH1):c.1680G>C (p.Thr560=) rs35741240 0.00261
NM_000059.4(BRCA2):c.6323G>A (p.Arg2108His) rs35029074 0.00260
NM_139242.4(MTFMT):c.186G>C (p.Ala62=) rs183891284 0.00256
NM_006214.4(PHYH):c.717C>T (p.Tyr239=) rs142720126 0.00243
NM_007294.4(BRCA1):c.4535G>T (p.Ser1512Ile) rs1800744 0.00240
NM_000059.4(BRCA2):c.8182G>A (p.Val2728Ile) rs28897749 0.00239
NM_007294.4(BRCA1):c.114G>A (p.Lys38=) rs1800062 0.00233
NM_022089.4(ATP13A2):c.1195+9C>T rs117758987 0.00227
NM_000038.6(APC):c.705A>G (p.Leu235=) rs147036141 0.00213
NM_000455.5(STK11):c.464+9G>A rs376313955 0.00208
NM_033159.4(HYAL1):c.1175C>T (p.Thr392Met) rs117179004 0.00208
NM_017882.3(CLN6):c.840G>A (p.Leu280=) rs148949069 0.00198
NM_018127.7(ELAC2):c.174G>A (p.Val58=) rs2286334 0.00196
NM_016292.3(TRAP1):c.2053G>A (p.Asp685Asn) rs61756352 0.00195
NM_006796.3(AFG3L2):c.1664-9T>C rs200476229 0.00182
NM_130837.3(OPA1):c.1236A>G (p.Ala412=) rs150807064 0.00179
NM_153638.4(PANK2):c.-11G>A rs71647826 0.00179
NM_002979.5(SCP2):c.1468+17C>A rs79342751 0.00163
NM_000059.4(BRCA2):c.125A>G (p.Tyr42Cys) rs4987046 0.00158
NM_007294.4(BRCA1):c.1137T>G (p.Ile379Met) rs56128296 0.00158
NM_004360.5(CDH1):c.2440-6C>G rs139757930 0.00145
NM_007294.4(BRCA1):c.4600G>A (p.Val1534Met) rs55815649 0.00145
NM_000249.4(MLH1):c.2146G>A (p.Val716Met) rs35831931 0.00143
NM_000251.3(MSH2):c.1387-8G>T rs187525243 0.00143
NM_007103.4(NDUFV1):c.150C>T (p.Asp50=) rs11540012 0.00143
NM_000512.5(GALNS):c.566+30C>T rs200659210 0.00141
NM_007294.4(BRCA1):c.2521C>T (p.Arg841Trp) rs1800709 0.00137
NM_000059.4(BRCA2):c.8149G>T (p.Ala2717Ser) rs28897747 0.00127
NM_001040716.2(PC):c.616G>T (p.Val206Leu) rs147945506 0.00126
NM_000546.6(TP53):c.139C>T (p.Pro47Ser) rs1800371 0.00123
NM_000535.7(PMS2):c.2340C>T (p.Pro780=) rs142230276 0.00117
NM_000271.5(NPC1):c.66A>G (p.Ser22=) rs144415945 0.00104
NM_001040108.2(MLH3):c.4351G>A (p.Glu1451Lys) rs28939071 0.00104
NM_000038.6(APC):c.423-16A>T rs78919815 0.00101
NM_000093.5(COL5A1):c.61C>T (p.Pro21Ser) rs548525119 0.00094
NM_005359.6(SMAD4):c.904+29A>T rs543382977 0.00090
NM_000151.4(G6PC1):c.*3G>A rs191399793 0.00088
NM_000249.4(MLH1):c.1217G>A (p.Ser406Asn) rs41294980 0.00087
NM_000059.4(BRCA2):c.978C>A (p.Ser326Arg) rs28897706 0.00082
NM_020442.6(VARS2):c.2328C>T (p.Ser776=) rs140375910 0.00072
NM_000249.4(MLH1):c.375A>G (p.Ala125=) rs1800144 0.00062
NM_001378120.1(MBD5):c.236G>A (p.Gly79Glu) rs34995577 0.00061
NM_000179.3(MSH6):c.1508C>G (p.Ser503Cys) rs63750897 0.00059
NM_000436.4(OXCT1):c.173C>T (p.Thr58Met) rs75134564 0.00053
NM_000512.5(GALNS):c.633+22T>C rs201579340 0.00045
NM_024312.5(GNPTAB):c.3598G>A (p.Glu1200Lys) rs137853825 0.00043
NM_000251.3(MSH2):c.1886A>G (p.Gln629Arg) rs61756468 0.00042
NM_017827.4(SARS2):c.590-5T>A rs370612303 0.00035
NM_000251.3(MSH2):c.471C>A (p.Gly157=) rs61756463 0.00029
NM_007294.4(BRCA1):c.536A>G (p.Tyr179Cys) rs56187033 0.00029
NM_000434.4(NEU1):c.486C>T (p.Ala162=) rs115588976 0.00026
NM_000059.4(BRCA2):c.1786G>C (p.Asp596His) rs56328701 0.00025
NM_000535.7(PMS2):c.2324A>G (p.Asn775Ser) rs17420802 0.00025
NM_000059.4(BRCA2):c.1385A>G (p.Glu462Gly) rs56403624 0.00020
NM_000535.7(PMS2):c.2253T>C (p.Phe751=) rs1805325 0.00018
NM_000414.4(HSD17B4):c.1437+25A>C rs181609312 0.00016
NM_000414.4(HSD17B4):c.1767+8T>C rs190659146 0.00014
NM_007294.4(BRCA1):c.2596C>T (p.Arg866Cys) rs41286300 0.00011
NM_000546.6(TP53):c.559+24C>T rs56181208 0.00008
NM_004130.4(GYG1):c.829-23A>G rs760991975 0.00005
NM_000059.4(BRCA2):c.2944A>C (p.Ile982Leu) rs28897717 0.00002
NM_000033.4(ABCD1):c.1744G>A (p.Val582Ile) rs76180859 0.00001
NM_000249.4(MLH1):c.1039-23T>A rs749926534 0.00001
MSH6:c.3647-51_3647-35del17 rs267607687
NM_000033.4(ABCD1):c.1489-24C>G rs149185761
NM_000059.4(BRCA2):c.6513G>C (p.Val2171=) rs206076
NM_000059.4(BRCA2):c.7242A>G (p.Ser2414=) rs1799955
NM_000147.5(FUCA1):c.437C>T (p.Pro146Leu) rs2228424
NM_000147.5(FUCA1):c.7G>C (p.Ala3Pro) rs61996282
NM_000152.5(GAA):c.858+7_858+8insAGCGGGC rs3071247
NM_000153.4(GALC):c.1162-4del rs11300320
NM_000153.4(GALC):c.196-3del rs561184126
NM_000179.3(MSH6):c.3173-94A>G rs863225405
NM_000179.3(MSH6):c.3246G>T (p.Pro1082=) rs3136351
NM_000179.3(MSH6):c.3557-4dup rs267608102
NM_000179.3(MSH6):c.3646+35_3646+38del rs1805181
NM_000179.3(MSH6):c.3646+91T>C rs3136359
NM_000179.3(MSH6):c.3647-70TTTTTGTTTTAATTCCT[3] rs267607687
NM_000179.3(MSH6):c.3759_3760insT (p.Glu1254Ter) rs863225413
NM_000179.3(MSH6):c.3802-43dup rs34154602
NM_000179.3(MSH6):c.3854dup (p.Leu1286fs) rs863225415
NM_000179.3(MSH6):c.4002-10del rs59056100
NM_000181.4(GUSB):c.724+23TC[3] rs3830444
NM_000199.5(SGSH):c.1159G>A (p.Val387Met) rs62620232
NM_000203.5(IDUA):c.1190-10dup rs150523349
NM_000203.5(IDUA):c.314G>A (p.Arg105Gln) rs3755955
NM_000203.5(IDUA):c.590-8C>T rs6848974
NM_000235.4(LIPA):c.539-5C>T rs2297472
NM_000249.4(MLH1):c.*32CTT[1] rs193922366
NM_000249.4(MLH1):c.1039-8del rs57509953
NM_000251.3(MSH2):c.793-23G>A rs17224255
NM_000263.4(NAGLU):c.2209C>A (p.Arg737Ser) rs86312
NM_000263.4(NAGLU):c.2209C>G (p.Arg737Gly) rs86312
NM_000271.5(NPC1):c.2131-4del rs11299077
NM_000271.5(NPC1):c.2131-5_2131-4del rs11299077
NM_000271.5(NPC1):c.2131-6_2131-4del rs11299077
NM_000271.5(NPC1):c.2604+30del rs746440359
NM_000286.3(PEX12):c.681-3_681-2del rs138568975
NM_000287.4(PEX6):c.1234-8_1234-7dup rs200121485
NM_000287.4(PEX6):c.883-28del rs3831135
NM_000308.4(CTSA):c.33GCT[7] (p.Leu19del) rs72555383
NM_000308.4(CTSA):c.870-15del rs3215446
NM_000314.8(PTEN):c.-367del rs1554890188
NM_000314.8(PTEN):c.-512G>A rs886047387
NM_000314.8(PTEN):c.-546GGC[6] rs34413673
NM_000314.8(PTEN):c.254-30dup rs77494260
NM_000314.8(PTEN):c.802-3del rs34003473
NM_000382.3(ALDH3A2):c.386-6A>G rs117330764
NM_000391.4(TPP1):c.887-6del rs35039601
NM_000391.4(TPP1):c.887-7_887-6del rs35039601
NM_000391.4(TPP1):c.887-8_887-6del rs35039601
NM_000391.4(TPP1):c.887-9_887-6del rs35039601
NM_000404.4(GLB1):c.792+10G>T rs79518579
NM_000528.4(MAN2B1):c.935C>T (p.Thr312Ile) rs1054487
NM_000543.4(SMPD1):c.126_143del (p.Ala44_Leu49del) rs3838786
NM_000543.5(SMPD1):c.107_118del (p.Val36_Leu39del) rs550365194
NM_000543.5(SMPD1):c.113del (p.Ala38fs) rs1554933824
NM_001042432.2(CLN3):c.1057-22dup rs148146139
NM_001048174.2(MUTYH):c.930G>T (p.Gln310His) rs3219489
NM_001079866.2(BCS1L):c.628G>A (p.Asp210Asn) rs58447305
NM_001080449.3(DNA2):c.720-15dup rs34191745
NM_001080449.3(DNA2):c.720-4del rs34191745
NM_001083614.2(EARS2):c.263_264delinsAA (p.Ala88Glu) rs1555504721
NM_001193313.2(SUGCT):c.313-16A>T rs10236765
NM_001193313.2(SUGCT):c.313-30AT[7] rs563908901
NM_001193313.2(SUGCT):c.313-30AT[9] rs563908901
NM_001195248.2(APTX):c.484-25_484-3del rs779869639
NM_001195248.2(APTX):c.484-25_484-4del rs778542759
NM_001195248.2(APTX):c.484-25_484-5del rs200922655
NM_001195248.2(APTX):c.484-25_484-6del rs771925873
NM_001195248.2(APTX):c.484-3del rs373304582
NM_001271696.3(ABCB7):c.1739_1740inv (p.Ala580Val)
NM_001278716.2(FBXL4):c.1103+30del rs377101732
NM_001370595.2(COA8):c.40C>G (p.Pro14Ala) rs2274268
NM_001371596.2(MFSD8):c.1351-9C>T rs75039907
NM_001377299.1(NDUFS2):c.58C>A (p.Pro20Thr) rs11538340
NM_001386393.1(PANK2):c.1083-14_1083-13insCCCCCT rs1555789541
NM_001386393.1(PANK2):c.47G>C (p.Gly16Ala) rs3737084
NM_001752.4(CAT):c.*5G>C rs2234940
NM_001931.4(DLAT):c.381+22delT rs5794771
NM_001931.5(DLAT):c.381+22dup rs5794771
NM_002087.4(GRN):c.99C>T (p.Asp33=) rs63750742
NM_002633.3(PGM1):c.683-23_683-22delinsTT rs386631849
NM_002693.3(POLG):c.126GCA[10] (p.Gln55del) rs41550117
NM_002693.3(POLG):c.126GCA[12] (p.Gln55dup) rs41550117
NM_002693.3(POLG):c.126GCA[13] (p.Gln54_Gln55dup) rs41550117
NM_002778.4(PSAP):c.1193-26G>A rs3747860
NM_002857.4(PEX19):c.181-15A>G rs114403769
NM_002863.5(PYGL):c.*11del rs3216001
NM_002863.5(PYGL):c.1828-2del rs11356035
NM_002863.5(PYGL):c.2178-33dup rs11414268
NM_003172.4(SURF1):c.54+30_54+31insCC rs1554769021
NM_003366.4(UQCRC2):c.442C>A (p.Arg148Ser) rs2228473
NM_003465.3(CHIT1):c.1325C>G (p.Ala442Gly) rs1065761
NM_003501.3(ACOX3):c.1698G>C (p.Thr566=) rs60183225
NM_003793.4(CTSF):c.531+27_531+42del rs527638704
NM_003850.3(SUCLA2):c.595T>A (p.Ser199Thr) rs7320366
NM_004360.5(CDH1):c.2164+17dup rs34939176
NM_004544.4(NDUFA10):c.1000-5del rs138479490
NM_005006.7(NDUFS1):c.154-10_154-9del rs568965659
NM_005006.7(NDUFS1):c.154-11_154-9del rs568965659
NM_005006.7(NDUFS1):c.154-12_154-9del rs568965659
NM_005006.7(NDUFS1):c.154-9del rs568965659
NM_005006.7(NDUFS1):c.966G>T (p.Ala322=) rs1127566
NM_005138.3(SCO2):c.59G>C (p.Arg20Pro) rs140523
NM_005359.6(SMAD4):c.904+45del rs386387676
NM_005359.6(SMAD4):c.904+45dup rs386387676
NM_005566.4(LDHA):c.835-15dup rs35006409
NM_005566.4(LDHA):c.835-16_835-15dup rs35006409
NM_005566.4(LDHA):c.835-17_835-15dup rs35006409
NM_005566.4(LDHA):c.835-18_835-15dup rs35006409
NM_005609.4(PYGM):c.1240C>G (p.Arg414Gly) rs11231866
NM_005763.4(AASS):c.1407-7del rs34474265
NM_005908.4(MANBA):c.1705-13C>A rs34754408
NM_005908.4(MANBA):c.1705-13C>T rs34754408
NM_005908.4(MANBA):c.2102C>T (p.Thr701Met) rs2866413
NM_005908.4(MANBA):c.2416-10del rs5860729
NM_006351.4(TIMM44):c.544-9C>T rs185667226
NM_006567.5(FARS2):c.839A>G (p.Asn280Ser) rs11243011
NM_007215.4(POLG2):c.1191+6dup rs60611997
NM_007294.4(BRCA1):c.2612C>T (p.Pro871Leu) rs799917
NM_007294.4(BRCA1):c.4837A>G (p.Ser1613Gly) rs1799966
NM_014165.3(NDUFAF4):c.241-10_241-9dup rs34213186
NM_014165.4(NDUFAF4):c.241-18dup rs34213186
NM_014317.5(PDSS1):c.163-5del rs34296355
NM_014363.6(SACS):c.8873A>G (p.Lys2958Arg) rs11839380
NM_015294.6(TRIM37):c.810-3del rs367700401
NM_015697.9(COQ2):c.64A>T (p.Arg22Ter) rs112033303
NM_016013.4(NDUFAF1):c.92G>T (p.Arg31Leu) rs3204853
NM_016292.3(TRAP1):c.776_777delinsTG (p.Ser259Leu) rs1555464281
NM_018006.5(TRMU):c.9_10delinsGG (p.Leu4Val) rs386822018
NM_018060.4(IARS2):c.268-4del rs202120344
NM_018122.5(DARS2):c.128-22del rs370761454
NM_018122.5(DARS2):c.128-5del rs746151025
NM_018122.5(DARS2):c.128-5dup rs746151025
NM_018122.5(DARS2):c.128-6_128-5dup rs746151025
NM_018122.5(DARS2):c.128-7_128-5dup rs746151025
NM_018122.5(DARS2):c.227+28_227+29delinsTT rs386636885
NM_018122.5(DARS2):c.228-10del rs374122386
NM_018122.5(DARS2):c.228-10dup rs374122386
NM_018122.5(DARS2):c.228-12C>G rs9425753
NM_018122.5(DARS2):c.228-20del rs143246542
NM_018122.5(DARS2):c.228-20dup rs143246542
NM_018127.7(ELAC2):c.1560A>G (p.Thr520=) rs11545302
NM_020247.5(COQ8A):c.1440C>T (p.Phe480=) rs12593
NM_024120.5(NDUFAF5):c.222+8_222+15del rs3831170
NM_024312.5(GNPTAB):c.27G>A (p.Gln9=) rs222504
NM_024312.5(GNPTAB):c.323+11dup rs546617430
NM_025150.4(TARS2):c.-31_-28del rs3840448
NM_025243.4(SLC19A3):c.980-4del rs11334205
NM_052865.4(MGME1):c.846T>C (p.Asp282=) rs28455091
NM_053013.4(ENO3):c.86-3del rs151153333
NM_139242.4(MTFMT):c.646-18_646-17dup rs372515409
NM_139242.4(MTFMT):c.646-18dup rs372515409
NM_139242.4(MTFMT):c.646-5del rs372515409
NM_152416.4(NDUFAF6):c.420+14_420+15dup rs34960210
NM_152416.4(NDUFAF6):c.420+15dup rs34960210
NM_182760.4(SUMF1):c.*11A>T rs2633851
NM_198834.3(ACACA):c.4777-7C>G rs6607364
NM_213595.4(ISCU):c.19_20delinsGG (p.Phe7Gly) rs67681514

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.