ClinVar Miner

List of variants reported as uncertain significance for peripheral neuropathy by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (526):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2279
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_033305.3(VPS13A):c.5884C>T (p.Arg1962Cys) rs149694033 0.00397
NM_000287.4(PEX6):c.1802G>A (p.Arg601Gln) rs34324426 0.00294
NM_033305.3(VPS13A):c.775A>G (p.Asn259Asp) rs41307461 0.00255
NM_000487.6(ARSA):c.1447G>A (p.Glu483Lys) rs148352371 0.00245
NM_002496.4(NDUFS8):c.4C>T (p.Arg2Cys) rs150278938 0.00205
NM_002693.3(POLG):c.1174C>G (p.Leu392Val) rs145289229 0.00194
NM_007254.4(PNKP):c.416G>A (p.Arg139His) rs34472250 0.00185
NM_001127649.3(PEX26):c.200A>G (p.Asn67Ser) rs201884779 0.00179
NM_002617.4(PEX10):c.712G>C (p.Gly238Arg) rs61736380 0.00172
NM_020381.4(PDSS2):c.667G>A (p.Val223Ile) rs35555197 0.00130
NM_000158.4(GBE1):c.15G>A (p.Met5Ile) rs62267114 0.00125
NM_000153.4(GALC):c.-327G>T rs185943390 0.00120
NM_005957.5(MTHFR):c.1556G>T (p.Arg519Leu) rs45449298 0.00118
NM_003477.3(PDHX):c.589C>A (p.Leu197Met) rs139052284 0.00111
NM_133259.4(LRPPRC):c.1301G>A (p.Gly434Asp) rs146515622 0.00102
NM_000183.2(HADHB):c.-124C>G rs575302805 0.00095
NM_017547.4(FOXRED1):c.1171T>G (p.Leu391Val) rs138061928 0.00093
NM_002693.3(POLG):c.2207A>G (p.Asn736Ser) rs138457939 0.00092
NM_003560.4(PLA2G6):c.1615G>A (p.Gly539Ser) rs143826762 0.00092
NM_000263.4(NAGLU):c.1438G>A (p.Ala480Thr) rs147293270 0.00087
NM_001365536.1(SCN9A):c.684C>G (p.Ile228Met) rs71428908 0.00081
NM_015506.3(MMACHC):c.316G>A (p.Glu106Lys) rs201617713 0.00081
NM_000108.5(DLD):c.788G>A (p.Arg263His) rs145670503 0.00080
NM_015046.7(SETX):c.4982C>G (p.Pro1661Arg) rs146873848 0.00080
NM_000158.4(GBE1):c.1492G>A (p.Glu498Lys) rs201758548 0.00071
NM_002693.3(POLG):c.578G>A (p.Arg193Gln) rs3176162 0.00071
NM_004565.3(PEX14):c.575C>G (p.Ala192Gly) rs147706488 0.00070
NM_001244008.2(KIF1A):c.3494T>C (p.Ile1165Thr) rs35698242 0.00063
NM_002693.3(POLG):c.1402A>G (p.Asn468Asp) rs145843073 0.00063
NM_004990.4(MARS1):c.617C>T (p.Pro206Leu) rs138776588 0.00063
NM_002693.3(POLG):c.3131T>C (p.Val1044Ala) rs150233690 0.00062
NM_000543.5(SMPD1):c.340G>A (p.Val114Met) rs142215226 0.00061
NM_007254.4(PNKP):c.901C>T (p.Arg301Trp) rs201503405 0.00061
NM_018060.4(IARS2):c.1016C>T (p.Ser339Phe) rs139437119 0.00061
NM_033305.3(VPS13A):c.2201G>A (p.Ser734Asn) rs117320408 0.00061
NM_030962.4(SBF2):c.3824G>A (p.Arg1275His) rs150028248 0.00059
NM_000466.3(PEX1):c.-43T>G rs572810743 0.00058
NM_004168.4(SDHA):c.1919A>G (p.Glu640Gly) rs372480044 0.00058
NM_006158.5(NEFL):c.1610A>G (p.Gln537Arg) rs377121179 0.00058
NM_133259.4(LRPPRC):c.1678A>T (p.Ile560Leu) rs144826521 0.00058
NM_181882.3(PRX):c.3769G>A (p.Gly1257Arg) rs200332462 0.00058
NM_000263.4(NAGLU):c.353C>T (p.Pro118Leu) rs530062090 0.00056
NM_000158.4(GBE1):c.1877A>G (p.Asn626Ser) rs185631651 0.00054
NM_001358921.2(COQ2):c.310G>A (p.Gly104Ser) rs146983090 0.00054
NM_006096.4(NDRG1):c.122A>G (p.His41Arg) rs2233318 0.00054
NM_002857.4(PEX19):c.-4C>T rs201541204 0.00053
NM_000081.4(LYST):c.8806G>A (p.Val2936Ile) rs2753327 0.00052
NM_000521.4(HEXB):c.715G>A (p.Val239Ile) rs145056714 0.00051
NM_000530.8(MPZ):c.133C>T (p.Arg45Trp) rs200151353 0.00051
NM_000543.5(SMPD1):c.1675G>A (p.Val559Ile) rs149939736 0.00051
NM_133259.4(LRPPRC):c.74G>A (p.Arg25His) rs780400922 0.00051
NM_000182.5(HADHA):c.652G>C (p.Val218Leu) rs71441018 0.00050
NM_000081.4(LYST):c.3083C>G (p.Ser1028Cys) rs150636017 0.00049
NM_001358921.2(COQ2):c.808C>T (p.Arg270Trp) rs886059669 0.00048
NM_182476.3(COQ6):c.1337C>T (p.Thr446Met) rs146458320 0.00046
NM_002617.4(PEX10):c.418G>C (p.Gly140Arg) rs76530653 0.00045
NM_001953.5(TYMP):c.401C>T (p.Ala134Val) rs199901350 0.00044
NM_005548.3(KARS1):c.274G>C (p.Glu92Gln) rs11557669 0.00044
NM_006514.4(SCN10A):c.2842G>C (p.Val948Leu) rs145694222 0.00044
NM_014629.4(ARHGEF10):c.3098A>G (p.Glu1033Gly) rs189989926 0.00044
NM_000039.3(APOA1):c.178T>G (p.Ser60Ala) rs199759119 0.00043
NM_024577.4(SH3TC2):c.2812C>T (p.His938Tyr) rs144688852 0.00043
NM_006514.4(SCN10A):c.2441G>A (p.Arg814His) rs139861061 0.00041
NM_000370.3(TTPA):c.452G>A (p.Arg151Gln) rs150710403 0.00040
NM_003560.4(PLA2G6):c.101C>T (p.Ser34Leu) rs147948449 0.00040
NM_018972.4(GDAP1):c.556A>G (p.Ile186Val) rs148508128 0.00040
NM_015046.7(SETX):c.3826C>G (p.Gln1276Glu) rs148604312 0.00039
NM_015046.7(SETX):c.654G>C (p.Lys218Asn) rs117861188 0.00039
NM_003560.4(PLA2G6):c.416G>A (p.Arg139His) rs141825182 0.00038
NM_015046.7(SETX):c.7432A>G (p.Thr2478Ala) rs142303658 0.00038
NM_015506.3(MMACHC):c.67G>T (p.Val23Phe) rs201898615 0.00038
NM_004813.4(PEX16):c.695-6C>T rs372182266 0.00036
NM_003560.4(PLA2G6):c.91G>A (p.Asp31Asn) rs150024227 0.00035
NM_015046.7(SETX):c.4433C>A (p.Ala1478Glu) rs143661911 0.00034
NM_002972.4(SBF1):c.2605G>A (p.Val869Met) rs200365973 0.00033
NM_006514.4(SCN10A):c.472T>G (p.Tyr158Asp) rs202192818 0.00033
NM_006514.4(SCN10A):c.905G>A (p.Arg302Gln) rs201955990 0.00033
NM_017547.4(FOXRED1):c.754C>T (p.Arg252Cys) rs146661281 0.00033
NM_000081.4(LYST):c.8960C>G (p.Pro2987Arg) rs147899661 0.00032
NM_000466.3(PEX1):c.3503A>G (p.Asp1168Gly) rs182452430 0.00032
NM_002693.3(POLG):c.3098C>T (p.Ala1033Val) rs551708243 0.00032
NM_006514.4(SCN10A):c.1858G>A (p.Val620Ile) rs151303346 0.00032
NM_001349253.2(SCN11A):c.494_501dup (p.Gly168fs) rs780673867 0.00031
NM_005957.5(MTHFR):c.203G>A (p.Arg68Gln) rs2066472 0.00031
NM_006514.4(SCN10A):c.2428G>T (p.Gly810Trp) rs145712124 0.00030
NM_000081.4(LYST):c.2963G>A (p.Arg988Gln) rs150953050 0.00029
NM_000466.3(PEX1):c.3044A>C (p.Glu1015Ala) rs185181696 0.00029
NM_001358921.2(COQ2):c.136C>T (p.Pro46Ser) rs767013819 0.00029
NM_002506.3(NGF):c.247C>T (p.Arg83Cys) rs138175552 0.00029
NM_004565.3(PEX14):c.416G>A (p.Arg139Gln) rs147683525 0.00029
NM_005908.4(MANBA):c.2296C>T (p.Arg766Trp) rs147428514 0.00029
NM_006514.4(SCN10A):c.3482T>C (p.Met1161Thr) rs200713724 0.00029
NM_030962.4(SBF2):c.1519G>A (p.Glu507Lys) rs139217120 0.00029
NM_182476.3(COQ6):c.986G>A (p.Arg329His) rs147273831 0.00029
NM_000466.3(PEX1):c.3106G>T (p.Ala1036Ser) rs754130942 0.00028
NM_005957.5(MTHFR):c.673A>G (p.Ile225Val) rs200100285 0.00028
NM_025137.4(SPG11):c.6625C>T (p.Arg2209Cys) rs374057859 0.00027
NM_001244008.2(KIF1A):c.4927G>A (p.Asp1643Asn) rs200141437 0.00026
NM_002693.3(POLG):c.328C>T (p.His110Tyr) rs139599587 0.00026
NM_004813.4(PEX16):c.461A>G (p.Asp154Gly) rs140695185 0.00026
NM_018979.4(WNK1):c.5720C>T (p.Pro1907Leu) rs200979623 0.00026
NM_021830.5(TWNK):c.-592C>T rs774214514 0.00026
NM_024577.4(SH3TC2):c.385+3A>G rs184593694 0.00026
NM_033305.3(VPS13A):c.8225A>G (p.His2742Arg) rs145686832 0.00026
NM_020247.5(COQ8A):c.1286A>G (p.Tyr429Cys) rs144147839 0.00025
NM_170707.4(LMNA):c.1634G>A (p.Arg545His) rs142191737 0.00025
NM_000287.4(PEX6):c.-79C>T rs186587060 0.00024
NM_000287.4(PEX6):c.488G>C (p.Arg163Pro) rs778791031 0.00024
NM_001005361.3(DNM2):c.2179C>T (p.His727Tyr) rs142963320 0.00024
NM_006096.4(NDRG1):c.686A>G (p.Asn229Ser) rs137993172 0.00024
NM_018979.4(WNK1):c.4104A>G (p.Thr1368=) rs142787842 0.00023
NM_000081.4(LYST):c.8214G>C (p.Glu2738Asp) rs140944484 0.00022
NM_018979.4(WNK1):c.865T>C (p.Ser289Pro) rs200234585 0.00022
NM_000143.4(FH):c.1303G>A (p.Val435Met) rs147528200 0.00021
NM_002693.3(POLG):c.2369G>A (p.Arg790His) rs191490663 0.00021
NM_006514.4(SCN10A):c.5630C>T (p.Pro1877Leu) rs143523403 0.00021
NM_006514.4(SCN10A):c.724T>A (p.Ser242Thr) rs140288103 0.00021
NM_000182.5(HADHA):c.2131C>A (p.Pro711Thr) rs138966725 0.00020
NM_000217.3(KCNA1):c.60G>C (p.Gln20His) rs201504073 0.00020
NM_001370658.1(BTD):c.1145A>G (p.Asn382Ser) rs201023772 0.00020
NM_003560.4(PLA2G6):c.439G>A (p.Ala147Thr) rs138672490 0.00020
NM_018979.4(WNK1):c.5851A>G (p.Thr1951Ala) rs72650764 0.00020
NM_030962.4(SBF2):c.3831C>G (p.Ile1277Met) rs139522696 0.00020
NM_000371.4(TTR):c.190T>C (p.Phe64Leu) rs138065384 0.00019
NM_000371.4(TTR):c.368G>A (p.Arg123His) rs148538950 0.00019
NM_000487.6(ARSA):c.605G>A (p.Arg202His) rs201794808 0.00019
NM_003560.4(PLA2G6):c.1381C>T (p.Arg461Trp) rs76718524 0.00019
NM_004082.5(DCTN1):c.3127C>T (p.Arg1043Cys) rs140066692 0.00019
NM_004565.3(PEX14):c.18G>C (p.Gln6His) rs200395336 0.00019
NM_007254.4(PNKP):c.290A>G (p.Asn97Ser) rs140290151 0.00019
NM_015506.3(MMACHC):c.472T>C (p.Phe158Leu) rs201312386 0.00019
NM_030962.4(SBF2):c.1967G>C (p.Cys656Ser) rs138120231 0.00019
NM_133259.4(LRPPRC):c.908G>A (p.Arg303His) rs745653250 0.00019
NM_000287.4(PEX6):c.617G>A (p.Gly206Glu) rs139093654 0.00018
NM_000399.5(EGR2):c.457A>C (p.Thr153Pro) rs202183386 0.00018
NM_001127649.3(PEX26):c.716T>C (p.Leu239Pro) rs757411841 0.00018
NM_182476.3(COQ6):c.1252C>T (p.Arg418Cys) rs201434148 0.00018
NM_000371.4(TTR):c.14G>A (p.Arg5His) rs138657343 0.00017
NM_003560.4(PLA2G6):c.1427C>T (p.Thr476Ile) rs146684391 0.00017
NM_006514.4(SCN10A):c.5200G>A (p.Glu1734Lys) rs200645452 0.00017
NM_014317.5(PDSS1):c.754G>C (p.Glu252Gln) rs376818531 0.00017
NM_021815.5(SLC5A7):c.1306G>A (p.Val436Met) rs148535388 0.00017
NM_213655.5(WNK1):c.2143C>T (p.Arg715Cys) rs772257923 0.00017
NM_000287.4(PEX6):c.1081A>G (p.Thr361Ala) rs146025917 0.00016
NM_000466.3(PEX1):c.2200G>A (p.Val734Ile) rs141510219 0.00016
NM_001358921.2(COQ2):c.11C>G (p.Ser4Trp) rs376396608 0.00016
NM_002529.4(NTRK1):c.640C>T (p.Arg214Trp) rs372041586 0.00016
NM_002693.3(POLG):c.32G>A (p.Gly11Asp) rs765472726 0.00016
NM_003560.4(PLA2G6):c.2234G>A (p.Arg745Gln) rs368514303 0.00016
NM_004168.4(SDHA):c.955A>C (p.Ile319Leu) rs377509915 0.00016
NM_006514.4(SCN10A):c.4607C>G (p.Thr1536Arg) rs778754301 0.00016
NM_006859.4(LIAS):c.173C>T (p.Thr58Ile) rs141723499 0.00016
NM_018979.4(WNK1):c.5279C>T (p.Pro1760Leu) rs141202956 0.00016
NM_024577.4(SH3TC2):c.2954A>G (p.Glu985Gly) rs575937427 0.00016
NM_025137.4(SPG11):c.5969A>G (p.Tyr1990Cys) rs199920965 0.00016
NM_170707.4(LMNA):c.1657G>A (p.Asp553Asn) rs373671419 0.00016
NM_001244008.2(KIF1A):c.3680C>T (p.Pro1227Leu) rs374244985 0.00015
NM_001358921.2(COQ2):c.809G>A (p.Arg270Gln) rs200217650 0.00015
NM_001386140.1(MTTP):c.1301C>T (p.Thr434Ile) rs1467372840 0.00015
NM_005957.5(MTHFR):c.1720G>A (p.Val574Ile) rs202153689 0.00015
NM_006514.4(SCN10A):c.4849G>T (p.Val1617Phe) rs375940680 0.00015
NM_018979.4(WNK1):c.3508C>G (p.Leu1170Val) rs142181848 0.00015
NM_021625.5(TRPV4):c.1976C>T (p.Ser659Leu) rs779715512 0.00015
NM_170707.4(LMNA):c.1201C>T (p.Arg401Cys) rs61094188 0.00015
NM_000182.5(HADHA):c.1465A>G (p.Lys489Glu) rs145422395 0.00014
NM_000371.4(TTR):c.-61G>A rs770403822 0.00014
NM_000466.3(PEX1):c.1249G>A (p.Asp417Asn) rs143273433 0.00014
NM_000466.3(PEX1):c.3283G>A (p.Asp1095Asn) rs753699011 0.00014
NM_000543.5(SMPD1):c.56A>G (p.Gln19Arg) rs144465428 0.00014
NM_000784.4(CYP27A1):c.215T>A (p.Leu72Gln) rs138189735 0.00014
NM_001005373.4(LRSAM1):c.1199G>A (p.Arg400Gln) rs150344223 0.00014
NM_001122955.4(BSCL2):c.844G>A (p.Ala282Thr) rs190842600 0.00014
NM_001365536.1(SCN9A):c.1846G>A (p.Gly616Arg) rs201338643 0.00014
NM_002617.4(PEX10):c.275G>A (p.Arg92His) rs375649043 0.00014
NM_004168.4(SDHA):c.991G>A (p.Ala331Thr) rs200526913 0.00014
NM_006514.4(SCN10A):c.1315A>G (p.Thr439Ala) rs146536985 0.00014
NM_014317.5(PDSS1):c.719G>A (p.Arg240His) rs140972175 0.00014
NM_015506.3(MMACHC):c.770C>T (p.Pro257Leu) rs201601241 0.00014
NM_182476.3(COQ6):c.436G>T (p.Asp146Tyr) rs140725181 0.00014
NM_182476.3(COQ6):c.917T>C (p.Phe306Ser) rs767940412 0.00014
NM_198252.3(GSN):c.1538G>A (p.Arg513His) rs148410442 0.00014
NM_000287.4(PEX6):c.2534T>C (p.Ile845Thr) rs61753226 0.00013
NM_000304.4(PMP22):c.-134G>A rs754758124 0.00013
NM_001358921.2(COQ2):c.254-5C>G rs776701765 0.00013
NM_004813.4(PEX16):c.877C>T (p.Arg293Cys) rs544053792 0.00013
NM_006514.4(SCN10A):c.3417G>C (p.Trp1139Cys) rs143744796 0.00013
NM_015506.3(MMACHC):c.584G>C (p.Gly195Ala) rs754862915 0.00013
NM_018979.4(WNK1):c.3188C>T (p.Thr1063Ile) rs201379287 0.00013
NM_133259.4(LRPPRC):c.2965C>T (p.Arg989Cys) rs199706677 0.00013
NM_001365536.1(SCN9A):c.4820C>T (p.Thr1607Ile) rs200470541 0.00012
NM_002693.3(POLG):c.1403A>G (p.Asn468Ser) rs368614463 0.00012
NM_003560.4(PLA2G6):c.16C>T (p.Arg6Cys) rs143250889 0.00012
NM_015506.3(MMACHC):c.364C>A (p.His122Asn) rs372918203 0.00012
NM_018979.4(WNK1):c.4788A>G (p.Gln1596=) rs371448826 0.00012
NM_030962.4(SBF2):c.1498C>T (p.Arg500Trp) rs146366305 0.00012
NM_198252.3(GSN):c.1190A>G (p.Gln397Arg) rs368537807 0.00012
NM_000081.4(LYST):c.3311G>A (p.Arg1104Gln) rs148299757 0.00011
NM_000214.3(JAG1):c.19C>T (p.Arg7Cys) rs563232654 0.00011
NM_000288.4(PEX7):c.695G>A (p.Arg232Gln) rs191969418 0.00011
NM_000487.6(ARSA):c.-88G>A rs562486733 0.00011
NM_000520.6(HEXA):c.10T>C (p.Ser4Pro) rs146938346 0.00011
NM_000520.6(HEXA):c.836C>G (p.Ser279Cys) rs148199798 0.00011
NM_001127649.3(PEX26):c.571C>T (p.Arg191Trp) rs150451390 0.00011
NM_004048.4(B2M):c.340A>C (p.Lys114Gln) rs372078625 0.00011
NM_004082.5(DCTN1):c.3334A>G (p.Ser1112Gly) rs187434401 0.00011
NM_006514.4(SCN10A):c.2266C>T (p.Arg756Trp) rs374341474 0.00011
NM_022489.4(INF2):c.2239+16C>T rs370364755 0.00011
NM_022489.4(INF2):c.3209G>A (p.Arg1070Gln) rs374424323 0.00011
NM_030973.4(MED25):c.1438C>G (p.Leu480Val) rs148214958 0.00011
NM_170707.4(LMNA):c.1718C>T (p.Ser573Leu) rs60890628 0.00011
NM_170707.4(LMNA):c.1978A>G (p.Asn660Asp) rs374926367 0.00011
NM_000081.4(LYST):c.8779A>T (p.Ile2927Phe) rs554841002 0.00010
NM_000143.4(FH):c.217G>A (p.Val73Met) rs201878591 0.00010
NM_000286.3(PEX12):c.737C>A (p.Ser246Tyr) rs200413804 0.00010
NM_000287.4(PEX6):c.2783G>A (p.Arg928His) rs201265954 0.00010
NM_000371.4(TTR):c.140A>G (p.Asn47Ser) rs145551875 0.00010
NM_000784.4(CYP27A1):c.1017G>A (p.Thr339=) rs200553205 0.00010
NM_000925.4(PDHB):c.10G>A (p.Val4Met) rs201470762 0.00010
NM_001130823.3(DNMT1):c.2315C>A (p.Thr772Asn) rs142562681 0.00010
NM_002529.4(NTRK1):c.185T>C (p.Leu62Pro) rs766307207 0.00010
NM_002617.4(PEX10):c.485G>A (p.Arg162Gln) rs756297578 0.00010
NM_004082.5(DCTN1):c.2353C>T (p.Arg785Trp) rs121909344 0.00010
NM_004208.4(AIFM1):c.170C>G (p.Ser57Cys) rs201711375 0.00010
NM_006329.4(FBLN5):c.1051C>T (p.Arg351Trp) rs28939073 0.00010
NM_006514.4(SCN10A):c.5548C>T (p.Gln1850Ter) rs149504103 0.00010
NM_015506.3(MMACHC):c.641G>A (p.Arg214His) rs202189863 0.00010
NM_018979.4(WNK1):c.4487C>G (p.Thr1496Ser) rs763829194 0.00010
NM_018979.4(WNK1):c.4798A>G (p.Ile1600Val) rs975581838 0.00010
NM_170707.4(LMNA):c.1202G>A (p.Arg401His) rs141490569 0.00010
NM_000153.4(GALC):c.1042A>T (p.Thr348Ser) rs200516260 0.00009
NM_000158.4(GBE1):c.496C>T (p.Arg166Cys) rs376546162 0.00009
NM_000263.4(NAGLU):c.1430G>C (p.Ser477Thr) rs369970264 0.00009
NM_001127649.3(PEX26):c.886T>C (p.Ser296Pro) rs143243841 0.00009
NM_001244008.2(KIF1A):c.4511C>T (p.Thr1504Ile) rs371831198 0.00009
NM_001365536.1(SCN9A):c.2085A>G (p.Ile695Met) rs199588089 0.00009
NM_001365951.3(KIF1B):c.3407T>C (p.Ile1136Thr) rs374098797 0.00009
NM_001953.5(TYMP):c.859G>A (p.Val287Met) rs781064742 0.00009
NM_002180.3(IGHMBP2):c.1295C>T (p.Ala432Val) rs370414354 0.00009
NM_002618.4(PEX13):c.278A>G (p.Tyr93Cys) rs200211896 0.00009
NM_002693.3(POLG):c.3176A>G (p.Asn1059Ser) rs201192905 0.00009
NM_002693.3(POLG):c.460G>A (p.Ala154Thr) rs753858440 0.00009
NM_002972.4(SBF1):c.5312G>A (p.Arg1771His) rs559286048 0.00009
NM_003630.3(PEX3):c.798A>T (p.Glu266Asp) rs182665934 0.00009
NM_004168.4(SDHA):c.1055G>A (p.Arg352Gln) rs199844384 0.00009
NM_006514.4(SCN10A):c.4139G>A (p.Arg1380Gln) rs149155352 0.00009
NM_014365.3(HSPB8):c.14A>G (p.Gln5Arg) rs146900850 0.00009
NM_015506.3(MMACHC):c.650A>T (p.Glu217Val) rs199641732 0.00009
NM_018979.4(WNK1):c.5714T>A (p.Val1905Glu) rs759895083 0.00009
NM_021815.5(SLC5A7):c.1643G>A (p.Arg548Gln) rs199864231 0.00009
NM_025137.4(SPG11):c.3320G>C (p.Cys1107Ser) rs201271196 0.00009
NM_025137.4(SPG11):c.7132T>C (p.Phe2378Leu) rs150571352 0.00009
NM_133259.4(LRPPRC):c.3430C>T (p.Arg1144Cys) rs760016065 0.00009
NM_170707.4(LMNA):c.1390A>G (p.Met464Val) rs200262654 0.00009
NM_170707.4(LMNA):c.976T>A (p.Ser326Thr) rs56851164 0.00009
NM_198252.3(GSN):c.856G>A (p.Gly286Ser) rs151155909 0.00009
NM_213655.5(WNK1):c.2146C>T (p.Arg716Cys) rs140331977 0.00009
NM_000371.4(TTR):c.*143G>C rs545271394 0.00008
NM_000487.6(ARSA):c.728G>A (p.Arg243His) rs142142638 0.00008
NM_000784.4(CYP27A1):c.1297C>T (p.Arg433Trp) rs143002163 0.00008
NM_001122955.4(BSCL2):c.1202G>A (p.Gly401Glu) rs767463971 0.00008
NM_001370658.1(BTD):c.986A>C (p.Asn329Thr) rs200327983 0.00008
NM_002693.3(POLG):c.719C>T (p.Ser240Leu) rs369175235 0.00008
NM_002972.4(SBF1):c.3772G>A (p.Ala1258Thr) rs370712299 0.00008
NM_004082.5(DCTN1):c.100G>C (p.Glu34Gln) rs151052060 0.00008
NM_004168.4(SDHA):c.155C>T (p.Ser52Phe) rs377470390 0.00008
NM_006415.4(SPTLC1):c.1214G>A (p.Arg405His) rs567541925 0.00008
NM_018979.4(WNK1):c.3210T>C (p.Ser1070=) rs72650717 0.00008
NM_018979.4(WNK1):c.3934C>T (p.Arg1312Cys) rs759875909 0.00008
NM_020381.4(PDSS2):c.275A>C (p.His92Pro) rs143549737 0.00008
NM_021830.5(TWNK):c.1190A>G (p.Asp397Gly) rs751144474 0.00008
NM_170707.4(LMNA):c.1381-5G>A rs730880133 0.00008
NM_170707.4(LMNA):c.1488+6T>G rs369642101 0.00008
NM_170707.4(LMNA):c.1862C>T (p.Thr621Met) rs765594825 0.00008
NM_181882.3(PRX):c.1546C>T (p.Arg516Trp) rs144305922 0.00008
NM_000039.3(APOA1):c.158A>G (p.Tyr53Cys) rs750185173 0.00007
NM_000039.3(APOA1):c.80C>A (p.Pro27His) rs121912720 0.00007
NM_000214.3(JAG1):c.2828C>T (p.Pro943Leu) rs767826365 0.00007
NM_000214.3(JAG1):c.3260C>T (p.Thr1087Met) rs763164530 0.00007
NM_000214.3(JAG1):c.3652G>A (p.Val1218Ile) rs150295026 0.00007
NM_000344.4(SMN1):c.865T>A (p.Cys289Ser) rs187925143 0.00007
NM_000371.4(TTR):c.280G>C (p.Asp94His) rs730881164 0.00007
NM_000487.6(ARSA):c.1334G>T (p.Gly445Val) rs540762357 0.00007
NM_000520.6(HEXA):c.1164C>G (p.Ile388Met) rs760153692 0.00007
NM_001244008.2(KIF1A):c.2341G>A (p.Ala781Thr) rs369842871 0.00007
NM_001244008.2(KIF1A):c.5087G>A (p.Arg1696His) rs756912340 0.00007
NM_001358921.2(COQ2):c.451G>A (p.Ala151Thr) rs372949213 0.00007
NM_001365536.1(SCN9A):c.3538A>G (p.Asn1180Asp) rs750269576 0.00007
NM_001953.5(TYMP):c.862G>A (p.Glu288Lys) rs755060408 0.00007
NM_002778.4(PSAP):c.379C>T (p.Arg127Cys) rs148519599 0.00007
NM_004082.5(DCTN1):c.460C>T (p.Arg154Cys) rs141670992 0.00007
NM_004565.3(PEX14):c.1013A>G (p.Asp338Gly) rs201120958 0.00007
NM_006514.4(SCN10A):c.4657+5G>A rs373642730 0.00007
NM_006514.4(SCN10A):c.4831G>A (p.Gly1611Arg) rs777980971 0.00007
NM_014317.5(PDSS1):c.553G>A (p.Asp185Asn) rs144149122 0.00007
NM_018979.4(WNK1):c.3659C>T (p.Ser1220Phe) rs267603708 0.00007
NM_018979.4(WNK1):c.3806G>A (p.Arg1269Gln) rs574104473 0.00007
NM_018979.4(WNK1):c.7147T>A (p.Ter2383Lys) rs55650617 0.00007
NM_022489.4(INF2):c.*1+1G>C rs758452999 0.00007
NM_022489.4(INF2):c.1588G>A (p.Val530Met) rs369984449 0.00007
NM_024577.4(SH3TC2):c.517C>A (p.Leu173Met) rs147633804 0.00007
NM_170707.4(LMNA):c.1243G>A (p.Val415Ile) rs267607606 0.00007
NM_182476.3(COQ6):c.1118C>T (p.Pro373Leu) rs199869505 0.00007
NM_213655.5(WNK1):c.2351G>A (p.Arg784His) rs769105175 0.00007
NM_000214.3(JAG1):c.248A>G (p.Gln83Arg) rs376092818 0.00006
NM_000214.3(JAG1):c.316A>G (p.Thr106Ala) rs909905245 0.00006
NM_000214.3(JAG1):c.3638G>A (p.Arg1213Gln) rs138007561 0.00006
NM_000214.3(JAG1):c.5G>T (p.Arg2Leu) rs1026004197 0.00006
NM_000214.3(JAG1):c.756-14C>T rs757351921 0.00006
NM_000466.3(PEX1):c.2057A>G (p.Gln686Arg) rs201016626 0.00006
NM_000466.3(PEX1):c.2750C>T (p.Ala917Val) rs371327573 0.00006
NM_000466.3(PEX1):c.2843G>A (p.Arg948Gln) rs535271603 0.00006
NM_001042472.3(ABHD12):c.94G>T (p.Ala32Ser) rs768563605 0.00006
NM_001122955.4(BSCL2):c.1147G>A (p.Gly383Arg) rs772516974 0.00006
NM_001126121.2(SLC25A19):c.73T>G (p.Ser25Ala) rs777474053 0.00006
NM_001130823.3(DNMT1):c.*211G>C rs772999851 0.00006
NM_001130823.3(DNMT1):c.4483G>A (p.Val1495Met) rs781301028 0.00006
NM_001130823.3(DNMT1):c.695C>T (p.Pro232Leu) rs758190156 0.00006
NM_001244008.2(KIF1A):c.4909G>A (p.Glu1637Lys) rs377032453 0.00006
NM_001244008.2(KIF1A):c.4955G>A (p.Arg1652Gln) rs376658420 0.00006
NM_001351132.2(PEX5):c.230G>A (p.Arg77His) rs780957318 0.00006
NM_001358921.2(COQ2):c.232A>G (p.Met78Val) rs778094136 0.00006
NM_001365536.1(SCN9A):c.1280T>C (p.Leu427Ser) rs192406412 0.00006
NM_001365536.1(SCN9A):c.2006G>A (p.Arg669His) rs200374987 0.00006
NM_001365951.3(KIF1B):c.2675+3A>G rs200684032 0.00006
NM_001365951.3(KIF1B):c.4019C>A (p.Ser1340Tyr) rs202229713 0.00006
NM_002618.4(PEX13):c.677G>A (p.Arg226Gln) rs775953595 0.00006
NM_002693.3(POLG):c.1097G>C (p.Gly366Ala) rs757315161 0.00006
NM_002693.3(POLG):c.346C>T (p.Pro116Ser) rs771676521 0.00006
NM_002693.3(POLG):c.3650C>T (p.Ala1217Val) rs199751339 0.00006
NM_002778.4(PSAP):c.695G>A (p.Arg232His) rs147265566 0.00006
NM_002972.4(SBF1):c.4037G>A (p.Arg1346His) rs758581593 0.00006
NM_003560.4(PLA2G6):c.1849G>A (p.Val617Ile) rs139579057 0.00006
NM_003560.4(PLA2G6):c.2240G>A (p.Arg747Gln) rs376144077 0.00006
NM_003560.4(PLA2G6):c.901C>T (p.Arg301Cys) rs367854265 0.00006
NM_003846.3(PEX11B):c.464G>A (p.Arg155Gln) rs369527712 0.00006
NM_004082.5(DCTN1):c.3557T>C (p.Met1186Thr) rs145819459 0.00006
NM_005908.4(MANBA):c.1922G>A (p.Arg641His) rs569997475 0.00006
NM_006415.4(SPTLC1):c.929C>G (p.Ala310Gly) rs768841574 0.00006
NM_006514.4(SCN10A):c.4514C>T (p.Thr1505Met) rs184521520 0.00006
NM_007254.4(PNKP):c.1003G>A (p.Gly335Ser) rs768567927 0.00006
NM_007254.4(PNKP):c.1009G>C (p.Glu337Gln) rs780121125 0.00006
NM_015046.7(SETX):c.3016G>A (p.Gly1006Arg) rs141266068 0.00006
NM_015506.3(MMACHC):c.688C>T (p.Arg230Ter) rs201183360 0.00006
NM_018979.4(WNK1):c.2656C>G (p.Pro886Ala) rs569121553 0.00006
NM_018979.4(WNK1):c.4878G>C (p.Leu1626Phe) rs748898332 0.00006
NM_018979.4(WNK1):c.5144A>G (p.Asn1715Ser) rs756614581 0.00006
NM_018979.4(WNK1):c.5734A>C (p.Ile1912Leu) rs201995891 0.00006
NM_018979.4(WNK1):c.5870G>A (p.Arg1957His) rs36083875 0.00006
NM_018979.4(WNK1):c.6278G>A (p.Arg2093His) rs200315094 0.00006
NM_020381.4(PDSS2):c.1096C>T (p.Arg366Cys) rs370257390 0.00006
NM_022489.4(INF2):c.2254C>T (p.Arg752Cys) rs749405096 0.00006
NM_022489.4(INF2):c.2459G>A (p.Arg820Gln) rs759989953 0.00006
NM_022489.4(INF2):c.2755C>G (p.Leu919Val) rs377145979 0.00006
NM_024577.4(SH3TC2):c.2492G>A (p.Ser831Asn) rs375034766 0.00006
NM_025137.4(SPG11):c.604A>G (p.Met202Val) rs201875705 0.00006
NM_133259.4(LRPPRC):c.109G>T (p.Ala37Ser) rs763948159 0.00006
NM_170707.4(LMNA):c.1567G>A (p.Gly523Arg) rs201583907 0.00006
NM_170707.4(LMNA):c.1968+37C>T rs555070042 0.00006
NM_170707.4(LMNA):c.937-7C>G rs267607681 0.00006
NM_182476.3(COQ6):c.493G>A (p.Val165Ile) rs780055948 0.00006
NM_198252.3(GSN):c.1420C>T (p.Arg474Cys) rs138341672 0.00006
NM_198252.3(GSN):c.1763-7C>G rs181442771 0.00006
NM_198252.3(GSN):c.602G>A (p.Arg201Gln) rs774085705 0.00006
NM_198252.3(GSN):c.638G>A (p.Gly213Asp) rs371320840 0.00006
NM_213655.5(WNK1):c.2363G>A (p.Arg788His) rs762594801 0.00006
NM_000214.3(JAG1):c.3065G>A (p.Arg1022Gln) rs376089631 0.00005
NM_000214.3(JAG1):c.521C>T (p.Thr174Met) rs144999773 0.00005
NM_000371.4(TTR):c.13C>T (p.Arg5Cys) rs144792001 0.00005
NM_000371.4(TTR):c.385G>A (p.Ala129Thr) rs267607159 0.00005
NM_001122955.4(BSCL2):c.1201G>A (p.Gly401Arg) rs138964424 0.00005
NM_001244008.2(KIF1A):c.5029G>A (p.Val1677Ile) rs757070178 0.00005
NM_001244008.2(KIF1A):c.5131G>A (p.Asp1711Asn) rs199574770 0.00005
NM_001303.4(COX10):c.1061G>A (p.Arg354Gln) rs745492359 0.00005
NM_001358921.2(COQ2):c.830C>T (p.Pro277Leu) rs374567167 0.00005
NM_001365536.1(SCN9A):c.764G>A (p.Cys255Tyr) rs755139637 0.00005
NM_001365536.1(SCN9A):c.76C>T (p.Arg26Cys) rs199933920 0.00005
NM_001605.3(AARS1):c.2186G>A (p.Arg729Gln) rs142850278 0.00005
NM_002180.3(IGHMBP2):c.265G>A (p.Val89Met) rs1384314579 0.00005
NM_002506.3(NGF):c.160G>A (p.Ala54Thr) rs200459956 0.00005
NM_002857.4(PEX19):c.40G>C (p.Ala14Pro) rs747627762 0.00005
NM_003172.4(SURF1):c.322G>A (p.Asp108Asn) rs863224226 0.00005
NM_003560.4(PLA2G6):c.1649G>A (p.Arg550Gln) rs376051062 0.00005
NM_003846.3(PEX11B):c.767G>A (p.Arg256Gln) rs200919340 0.00005
NM_004750.5(CRLF1):c.242G>A (p.Arg81His) rs104894670 0.00005
NM_006514.4(SCN10A):c.2465C>T (p.Ala822Val) rs747839312 0.00005
NM_006514.4(SCN10A):c.4655C>T (p.Ala1552Val) rs756133876 0.00005
NM_014317.5(PDSS1):c.1157A>G (p.Glu386Gly) rs115687408 0.00005
NM_015046.7(SETX):c.4865C>T (p.Pro1622Leu) rs140781535 0.00005
NM_018972.4(GDAP1):c.1006G>T (p.Ala336Ser) rs140811185 0.00005
NM_018979.4(WNK1):c.29G>A (p.Ser10Asn) rs867437047 0.00005
NM_018979.4(WNK1):c.5086G>A (p.Ala1696Thr) rs760615496 0.00005
NM_018979.4(WNK1):c.7138C>T (p.Arg2380Trp) rs56262445 0.00005
NM_020381.4(PDSS2):c.1003G>A (p.Gly335Arg) rs17853951 0.00005
NM_020381.4(PDSS2):c.50C>T (p.Ser17Leu) rs373021095 0.00005
NM_021625.5(TRPV4):c.202C>T (p.Arg68Cys) rs199624080 0.00005
NM_022489.4(INF2):c.1485G>A (p.Pro495=) rs780642540 0.00005
NM_022489.4(INF2):c.1950-3C>A rs777132952 0.00005
NM_022489.4(INF2):c.638C>T (p.Ala213Val) rs746572452 0.00005
NM_024577.4(SH3TC2):c.2348C>T (p.Ala783Val) rs377372640 0.00005
NM_025137.4(SPG11):c.3425C>G (p.Ser1142Cys) rs201082396 0.00005
NM_025137.4(SPG11):c.5471G>A (p.Arg1824Gln) rs752401008 0.00005
NM_170707.4(LMNA):c.497G>A (p.Arg166Gln) rs267607570 0.00005
NM_198252.3(GSN):c.1512C>T (p.Gly504=) rs745619898 0.00005
NM_213655.5(WNK1):c.2152C>T (p.Arg718Cys) rs786205473 0.00005
NM_000039.3(APOA1):c.498C>A (p.Ser166Arg) rs757899657 0.00004
NM_000081.4(LYST):c.1390G>A (p.Glu464Lys) rs374284011 0.00004
NM_000081.4(LYST):c.4705A>C (p.Asn1569His) rs767687843 0.00004
NM_000143.4(FH):c.556-4A>G rs370229813 0.00004
NM_000143.4(FH):c.580G>A (p.Ala194Thr) rs587782215 0.00004
NM_000143.4(FH):c.917T>C (p.Val306Ala) rs147991516 0.00004
NM_000153.4(GALC):c.226G>A (p.Glu76Lys) rs778447883 0.00004
NM_000153.4(GALC):c.28T>C (p.Trp10Arg) rs767913083 0.00004
NM_000153.4(GALC):c.500A>G (p.Asn167Ser) rs768993170 0.00004
NM_000182.5(HADHA):c.1753G>A (p.Ala585Thr) rs753722938 0.00004
NM_000214.3(JAG1):c.1511A>G (p.Asn504Ser) rs527236046 0.00004
NM_000214.3(JAG1):c.2312A>G (p.Lys771Arg) rs149949294 0.00004
NM_000214.3(JAG1):c.2701C>A (p.Pro901Thr) rs372904306 0.00004
NM_000214.3(JAG1):c.2827C>T (p.Pro943Ser) rs760332763 0.00004
NM_000214.3(JAG1):c.3398C>T (p.Thr1133Met) rs373260040 0.00004
NM_000287.4(PEX6):c.1150A>C (p.Lys384Gln) rs769388552 0.00004
NM_000304.4(PMP22):c.185T>G (p.Leu62Arg) rs756046682 0.00004
NM_000371.4(TTR):c.361G>A (p.Gly121Ser) rs755337715 0.00004
NM_000466.3(PEX1):c.2675G>A (p.Gly892Glu) rs769356901 0.00004
NM_000487.6(ARSA):c.325G>A (p.Val109Met) rs746259972 0.00004
NM_000521.4(HEXB):c.1367A>C (p.Tyr456Ser) rs121907982 0.00004
NM_000543.5(SMPD1):c.1771C>T (p.Arg591Cys) rs375570126 0.00004
NM_001122955.4(BSCL2):c.1145C>T (p.Ser382Leu) rs149907021 0.00004
NM_001122955.4(BSCL2):c.1282C>T (p.Pro428Ser) rs369732238 0.00004
NM_001122955.4(BSCL2):c.359A>G (p.Tyr120Cys) rs370905417 0.00004
NM_001122955.4(BSCL2):c.934G>A (p.Val312Ile) rs754683462 0.00004
NM_001127649.3(PEX26):c.572G>A (p.Arg191Gln) rs750749018 0.00004
NM_001130823.3(DNMT1):c.3157G>A (p.Ala1053Thr) rs370786558 0.00004
NM_001130823.3(DNMT1):c.901A>C (p.Lys301Gln) rs751183319 0.00004
NM_001244008.2(KIF1A):c.5105G>A (p.Arg1702His) rs369839651 0.00004
NM_001244008.2(KIF1A):c.5269G>A (p.Ala1757Thr) rs773017134 0.00004
NM_001349253.2(SCN11A):c.1986A>G (p.Gln662=) rs746550786 0.00004
NM_001365536.1(SCN9A):c.184A>G (p.Ile62Val) rs121908920 0.00004
NM_001365536.1(SCN9A):c.2351C>G (p.Thr784Ser) rs200624920 0.00004
NM_001365951.3(KIF1B):c.2824G>A (p.Asp942Asn) rs370647925 0.00004
NM_001365951.3(KIF1B):c.4282G>A (p.Gly1428Ser) rs754234374 0.00004
NM_001365951.3(KIF1B):c.4525C>T (p.Arg1509Cys) rs757850683 0.00004
NM_001370658.1(BTD):c.49G>A (p.Val17Met) rs772369148 0.00004
NM_001605.3(AARS1):c.959G>A (p.Arg320His) rs557600847 0.00004
NM_001953.5(TYMP):c.931G>A (p.Gly311Ser) rs121913040 0.00004
NM_002529.4(NTRK1):c.1125G>A (p.Met375Ile) rs770611182 0.00004
NM_002529.4(NTRK1):c.2222C>T (p.Thr741Met) rs145081333 0.00004
NM_002693.3(POLG):c.2069C>T (p.Thr690Met) rs201677865 0.00004
NM_002693.3(POLG):c.2085T>G (p.Asp695Glu) rs776848222 0.00004
NM_002693.3(POLG):c.331G>C (p.Gly111Arg) rs760170099 0.00004
NM_002693.3(POLG):c.3425G>A (p.Arg1142Gln) rs536732038 0.00004
NM_002693.3(POLG):c.3667A>G (p.Ile1223Val) rs148786642 0.00004
NM_002972.4(SBF1):c.3287C>T (p.Ser1096Leu) rs200085962 0.00004
NM_003172.4(SURF1):c.508G>A (p.Asp170Asn) rs782358655 0.00004
NM_003560.4(PLA2G6):c.395G>A (p.Arg132His) rs763734863 0.00004
NM_003560.4(PLA2G6):c.481C>T (p.Arg161Cys) rs767260174 0.00004
NM_003560.4(PLA2G6):c.854G>A (p.Arg285His) rs372511574 0.00004
NM_003560.4(PLA2G6):c.898G>A (p.Ala300Thr) rs528966598 0.00004
NM_004168.4(SDHA):c.1973C>T (p.Pro658Leu) rs377632619 0.00004
NM_004168.4(SDHA):c.448G>A (p.Val150Met) rs542980860 0.00004
NM_004168.4(SDHA):c.739A>G (p.Ile247Val) rs571292356 0.00004
NM_005908.4(MANBA):c.1131G>C (p.Gln377His) rs762175890 0.00004
NM_005908.4(MANBA):c.1430A>G (p.Tyr477Cys) rs200133664 0.00004
NM_006514.4(SCN10A):c.1051C>T (p.Arg351Cys) rs370603046 0.00004
NM_006514.4(SCN10A):c.1093-3C>A rs373289770 0.00004
NM_006514.4(SCN10A):c.299C>A (p.Thr100Asn) rs758035498 0.00004
NM_006514.4(SCN10A):c.4709C>T (p.Thr1570Met) rs772484960 0.00004
NM_006514.4(SCN10A):c.4726C>T (p.Arg1576Cys) rs764476034 0.00004
NM_006514.4(SCN10A):c.4780C>T (p.Arg1594Cys) rs373347787 0.00004
NM_006514.4(SCN10A):c.5539C>T (p.Arg1847Ter) rs199503439 0.00004
NM_007254.4(PNKP):c.1177C>T (p.His393Tyr) rs772610025 0.00004
NM_014317.5(PDSS1):c.488G>A (p.Arg163His) rs780198984 0.00004
NM_014317.5(PDSS1):c.955A>G (p.Met319Val) rs754654692 0.00004
NM_015046.7(SETX):c.4828C>T (p.Leu1610Phe) rs749891883 0.00004
NM_015271.5(TRIM2):c.756A>C (p.Glu252Asp) rs138228404 0.00004
NM_015506.3(MMACHC):c.125C>T (p.Pro42Leu) rs763226016 0.00004
NM_015506.3(MMACHC):c.296T>C (p.Ile99Thr) rs370229341 0.00004
NM_015506.3(MMACHC):c.88T>C (p.Trp30Arg) rs745419717 0.00004
NM_015697.9(COQ2):c.34G>C (p.Gly12Arg) rs981288139 0.00004
NM_015697.9(COQ2):c.57G>T (p.Gln19His) rs764905680 0.00004
NM_015697.9(COQ2):c.94G>A (p.Ala32Thr) rs770651250 0.00004
NM_015915.5(ATL1):c.1355T>C (p.Phe452Ser) rs759126910 0.00004
NM_018979.4(WNK1):c.1769A>G (p.Lys590Arg) rs780986326 0.00004
NM_018979.4(WNK1):c.1820C>A (p.Pro607His) rs540823007 0.00004
NM_018979.4(WNK1):c.187A>C (p.Lys63Gln) rs780699781 0.00004
NM_018979.4(WNK1):c.1963G>C (p.Val655Leu) rs370488966 0.00004
NM_018979.4(WNK1):c.217A>G (p.Thr73Ala) rs1038270127 0.00004
NM_018979.4(WNK1):c.4135A>G (p.Thr1379Ala) rs758763241 0.00004
NM_018979.4(WNK1):c.4265T>G (p.Val1422Gly) rs779654189 0.00004
NM_018979.4(WNK1):c.4388G>A (p.Ser1463Asn) rs757201529 0.00004
NM_018979.4(WNK1):c.5463G>A (p.Ala1821=) rs770977819 0.00004
NM_018979.4(WNK1):c.5998G>C (p.Glu2000Gln) rs774666279 0.00004
NM_018979.4(WNK1):c.618G>A (p.Glu206=) rs146461512 0.00004
NM_018979.4(WNK1):c.6322G>A (p.Val2108Met) rs1437946999 0.00004
NM_021625.5(TRPV4):c.190C>T (p.Arg64Ter) rs372452565 0.00004
NM_022489.4(INF2):c.2084G>A (p.Arg695Gln) rs372333024 0.00004
NM_022489.4(INF2):c.2101G>A (p.Ala701Thr) rs772557416 0.00004
NM_022489.4(INF2):c.2418+3G>A rs748896420 0.00004
NM_022489.4(INF2):c.2857C>T (p.Arg953Trp) rs942393807 0.00004
NM_022489.4(INF2):c.3133C>T (p.Arg1045Trp) rs780428043 0.00004
NM_022489.4(INF2):c.3461A>T (p.Asp1154Val) rs753263522 0.00004
NM_022489.4(INF2):c.359G>A (p.Ser120Asn) rs777096903 0.00004
NM_022489.4(INF2):c.3727A>G (p.Lys1243Glu) rs1026924897 0.00004
NM_025137.4(SPG11):c.6043G>A (p.Asp2015Asn) rs771242219 0.00004
NM_133259.4(LRPPRC):c.3277G>A (p.Ala1093Thr) rs200611889 0.00004
NM_133259.4(LRPPRC):c.4177T>G (p.Ser1393Ala) rs139493671 0.00004
NM_170707.4(LMNA):c.1196G>A (p.Arg399His) rs267607563 0.00004
NM_170707.4(LMNA):c.1255C>T (p.Arg419Cys) rs755686359 0.00004
NM_170707.4(LMNA):c.1376A>G (p.Asn459Ser) rs372011095 0.00004
NM_170707.4(LMNA):c.1664A>G (p.Asp555Gly) rs141578711 0.00004
NM_170707.4(LMNA):c.1931G>A (p.Arg644His) rs368386019 0.00004
NM_170707.4(LMNA):c.467G>A (p.Arg156His) rs764475194 0.00004
NM_170707.4(LMNA):c.692A>G (p.Asn231Ser) rs760388350 0.00004
NM_170707.4(LMNA):c.848A>G (p.Asn283Ser) rs765241364 0.00004
NM_198252.3(GSN):c.1037G>A (p.Arg346Gln) rs372681751 0.00004
NM_198252.3(GSN):c.1096G>A (p.Val366Met) rs375323203 0.00004
NM_198252.3(GSN):c.1253A>G (p.Tyr418Cys) rs375227932 0.00004
NM_198252.3(GSN):c.1444G>A (p.Ala482Thr) rs375902120 0.00004
NM_198252.3(GSN):c.1576C>T (p.Arg526Trp) rs1220983184 0.00004
NM_198252.3(GSN):c.1662G>A (p.Trp554Ter) rs144259173 0.00004
NM_198252.3(GSN):c.2065C>T (p.Arg689Trp) rs148360076 0.00004
NM_198252.3(GSN):c.489C>T (p.Asp163=) rs761131048 0.00004
NM_198252.3(GSN):c.513+1G>A rs138677601 0.00004
NM_198252.3(GSN):c.7G>T (p.Val3Leu) rs138068754 0.00004
NM_213655.5(WNK1):c.2281G>A (p.Glu761Lys) rs573192786 0.00004
NM_213655.5(WNK1):c.2350C>T (p.Arg784Cys) rs758110645 0.00004
NM_213655.5(WNK1):c.2380C>T (p.Leu794Phe) rs773790877 0.00004
NM_213655.5(WNK1):c.3020C>T (p.Pro1007Leu) rs539230381 0.00004
NM_000039.3(APOA1):c.28G>A (p.Val10Met) rs750125257 0.00003
NM_000039.3(APOA1):c.83C>G (p.Pro28Arg) rs121912721 0.00003
NM_000081.4(LYST):c.1996A>G (p.Ser666Gly) rs140284566 0.00003
NM_000081.4(LYST):c.6718C>T (p.His2240Tyr) rs186152859 0.00003
NM_000143.4(FH):c.616G>A (p.Val206Ile) rs763183520 0.00003
NM_000153.4(GALC):c.1567C>A (p.Pro523Thr) rs370952794 0.00003
NM_000166.6(GJB1):c.565G>A (p.Val189Ile) rs770116247 0.00003
NM_000214.3(JAG1):c.2307C>T (p.Val769=) rs1009422076 0.00003
NM_000214.3(JAG1):c.3289C>T (p.Arg1097Trp) rs768554175 0.00003
NM_000214.3(JAG1):c.3478G>A (p.Asp1160Asn) rs755047447 0.00003
NM_000217.3(KCNA1):c.53A>C (p.His18Pro) rs367921276 0.00003
NM_000217.3(KCNA1):c.631A>G (p.Ile211Val) rs775789299 0.00003
NM_000217.3(KCNA1):c.641C>T (p.Ser214Phe) rs764561596 0.00003
NM_000274.4(OAT):c.314T>C (p.Val105Ala) rs199957428 0.00003
NM_000287.4(PEX6):c.1195G>A (p.Ala399Thr) rs564483086 0.00003
NM_000288.4(PEX7):c.86C>T (p.Pro29Leu) rs757852291 0.00003
NM_000371.4(TTR):c.370C>T (p.Arg124Cys) rs745834030 0.00003
NM_000466.3(PEX1):c.721T>C (p.Ser241Pro) rs753823218 0.00003
NM_000487.6(ARSA):c.1444G>A (p.Gly482Ser) rs377717242 0.00003
NM_000487.6(ARSA):c.514G>A (p.Gly172Ser) rs74315271 0.00003
NM_000487.6(ARSA):c.902G>A (p.Arg301Gln) rs573456864 0.00003
NM_000784.4(CYP27A1):c.241C>A (p.Leu81Met) rs370498798 0.00003
NM_001122955.4(BSCL2):c.1168G>A (p.Glu390Lys) rs141518903 0.00003
NM_001122955.4(BSCL2):c.443T>C (p.Phe148Ser) rs751277966 0.00003
NM_001122955.4(BSCL2):c.532C>G (p.Leu178Val) rs760613992 0.00003
NM_001122955.4(BSCL2):c.773C>T (p.Pro258Leu) rs769219167 0.00003
NM_001130823.3(DNMT1):c.855C>T (p.Gly285=) rs755151805 0.00003
NM_001130823.3(DNMT1):c.857T>C (p.Val286Ala) rs766504703 0.00003
NM_001244008.2(KIF1A):c.1064G>A (p.Arg355His) rs373042822 0.00003
NM_001358921.2(COQ2):c.368G>A (p.Arg123His) rs752363398 0.00003
NM_001365536.1(SCN9A):c.1604C>T (p.Ser535Leu) rs201354321 0.00003
NM_001365536.1(SCN9A):c.2647G>T (p.Val883Phe) rs369148683 0.00003
NM_001365951.3(KIF1B):c.1705A>G (p.Ile569Val) rs374848403 0.00003
NM_001365951.3(KIF1B):c.2516A>G (p.Tyr839Cys) rs778288202 0.00003
NM_001370658.1(BTD):c.377C>G (p.Pro126Arg) rs371116229 0.00003
NM_001370658.1(BTD):c.604G>A (p.Asp202Asn) rs200337373 0.00003
NM_001605.3(AARS1):c.1969A>G (p.Asn657Asp) rs749039663 0.00003
NM_002047.4(GARS1):c.262C>G (p.Gln88Glu) rs201728920 0.00003
NM_002180.3(IGHMBP2):c.808C>T (p.Arg270Cys) rs201054207 0.00003
NM_002529.4(NTRK1):c.1480C>A (p.Pro494Thr) rs764737760 0.00003
NM_002529.4(NTRK1):c.628G>A (p.Asp210Asn) rs745366033 0.00003
NM_002693.3(POLG):c.2027C>T (p.Ala676Val) rs376306906 0.00003
NM_002693.3(POLG):c.2704C>G (p.Leu902Val) rs745528696 0.00003
NM_002693.3(POLG):c.2977C>T (p.Arg993Cys) rs551811489 0.00003
NM_002693.3(POLG):c.3215C>G (p.Thr1072Ser) rs530757118 0.00003
NM_002693.3(POLG):c.629C>T (p.Thr210Ile) rs1450989575 0.00003
NM_002693.3(POLG):c.739C>G (p.Leu247Val) rs754696832 0.00003
NM_002764.4(PRPS1):c.611G>A (p.Arg204His) rs1169615098 0.00003
NM_003560.4(PLA2G6):c.116G>A (p.Arg39Gln) rs144910769 0.00003
NM_003846.3(PEX11B):c.572G>A (p.Arg191Gln) rs376116716 0.00003
NM_004082.5(DCTN1):c.414+1G>A rs576198476 0.00003
NM_004168.4(SDHA):c.613T>C (p.Tyr205His) rs61754481 0.00003
NM_005957.5(MTHFR):c.151C>T (p.Arg51Trp) rs764131110 0.00003
NM_006415.4(SPTLC1):c.310G>A (p.Ala104Thr) rs143232538 0.00003
NM_006514.4(SCN10A):c.1196C>T (p.Ala399Val) rs371834396 0.00003
NM_006514.4(SCN10A):c.1454G>A (p.Arg485His) rs746690639 0.00003
NM_006514.4(SCN10A):c.2367C>A (p.Asn789Lys) rs770046573 0.00003
NM_006514.4(SCN10A):c.3943G>A (p.Asp1315Asn) rs147640811 0.00003
NM_006514.4(SCN10A):c.5694del (p.Ala1899fs) rs747321219 0.00003
NM_007254.4(PNKP):c.1559A>G (p.Glu520Gly) rs886043128 0.00003
NM_014317.5(PDSS1):c.1108-7C>G rs367942639 0.00003
NM_014317.5(PDSS1):c.1162A>G (p.Ile388Val) rs749721462 0.00003
NM_014845.6(FIG4):c.2360G>A (p.Ser787Asn) rs377017892 0.00003
NM_018972.4(GDAP1):c.721G>A (p.Gly241Ser) rs533081002 0.00003
NM_018979.4(WNK1):c.130G>A (p.Ala44Thr) rs764240024 0.00003
NM_018979.4(WNK1):c.1787C>T (p.Ser596Phe) rs144114167 0.00003
NM_018979.4(WNK1):c.2567C>A (p.Thr856Lys) rs778139234 0.00003
NM_018979.4(WNK1):c.2624C>G (p.Thr875Arg) rs529032048 0.00003
NM_018979.4(WNK1):c.2684A>G (p.Gln895Arg) rs200100184 0.00003
NM_018979.4(WNK1):c.3899C>T (p.Ser1300Phe) rs143361850 0.00003
NM_018979.4(WNK1):c.3935G>A (p.Arg1312His) rs375565845 0.00003
NM_018979.4(WNK1):c.5326G>A (p.Glu1776Lys) rs551435012 0.00003
NM_018979.4(WNK1):c.568G>A (p.Ala190Thr) rs1229285578 0.00003
NM_018979.4(WNK1):c.576G>C (p.Glu192Asp) rs971232152 0.00003
NM_020381.4(PDSS2):c.382G>A (p.Val128Met) rs201645466 0.00003
NM_022041.4(GAN):c.1195A>G (p.Lys399Glu) rs368231984 0.00003
NM_022489.4(INF2):c.1949+3G>A rs747818846 0.00003
NM_022489.4(INF2):c.2155G>A (p.Glu719Lys) rs775500020 0.00003
NM_022489.4(INF2):c.2801C>T (p.Ala934Val) rs1001885245 0.00003
NM_022489.4(INF2):c.2804C>T (p.Ala935Val) rs781494318 0.00003
NM_022489.4(INF2):c.2992G>A (p.Gly998Arg) rs747569209 0.00003
NM_022489.4(INF2):c.3257T>A (p.Leu1086Gln) rs368869709 0.00003
NM_025137.4(SPG11):c.2003A>G (p.Tyr668Cys) rs764762491 0.00003
NM_133259.4(LRPPRC):c.515A>G (p.Tyr172Cys) rs187584458 0.00003
NM_170707.4(LMNA):c.1001G>A (p.Ser334Asn) rs370656306 0.00003
NM_170707.4(LMNA):c.1007G>A (p.Arg336Gln) rs58105277 0.00003
NM_170707.4(LMNA):c.1028G>A (p.Arg343Gln) rs61177390 0.00003
NM_170707.4(LMNA):c.1256G>A (p.Arg419His) rs777648901 0.00003
NM_170707.4(LMNA):c.1517A>C (p.His506Pro) rs878855233 0.00003
NM_170707.4(LMNA):c.1756G>A (p.Val586Met) rs758048062 0.00003
NM_182476.3(COQ6):c.637G>A (p.Gly213Arg) rs746166667 0.00003
NM_198252.3(GSN):c.-9-1987G>A rs761582266 0.00003
NM_198252.3(GSN):c.1103G>A (p.Arg368Gln) rs781764487 0.00003
NM_198252.3(GSN):c.1204G>A (p.Glu402Lys) rs368079865 0.00003
NM_198252.3(GSN):c.1417A>G (p.Ser473Gly) rs370997492 0.00003
NM_198252.3(GSN):c.1553G>A (p.Arg518His) rs769400986 0.00003
NM_198252.3(GSN):c.1588-5C>T rs374445066 0.00003
NM_198252.3(GSN):c.235A>C (p.Ile79Leu) rs766055612 0.00003
NM_198252.3(GSN):c.753+1G>A rs369830648 0.00003
NM_213655.5(WNK1):c.2147G>A (p.Arg716His) rs150330647 0.00003
NM_213655.5(WNK1):c.2162C>T (p.Ser721Leu) rs556259173 0.00003
NM_213655.5(WNK1):c.2926G>A (p.Gly976Ser) rs369073199 0.00003
NM_000039.3(APOA1):c.41C>T (p.Thr14Met) rs778560581 0.00002
NM_000052.7(ATP7A):c.119A>C (p.Lys40Thr) rs1557229686 0.00002
NM_000052.7(ATP7A):c.4356G>C (p.Leu1452Phe) rs782364202 0.00002
NM_000081.4(LYST):c.2870T>C (p.Met957Thr) rs201554916 0.00002
NM_000143.4(FH):c.1049G>A (p.Arg350Gln) rs749316923 0.00002
NM_000143.4(FH):c.352A>G (p.Asn118Asp) rs200738857 0.00002
NM_000143.4(FH):c.926C>T (p.Pro309Leu) rs756528378 0.00002
NM_000153.4(GALC):c.179C>T (p.Ala60Val) rs759110815 0.00002
NM_000158.4(GBE1):c.292G>C (p.Val98Leu) rs762945205 0.00002
NM_000182.5(HADHA):c.1912A>G (p.Ile638Val) rs545660610 0.00002
NM_000188.3(HK1):c.949G>A (p.Gly317Ser) rs202028638 0.00002
NM_000214.3(JAG1):c.1309G>A (p.Asp437Asn) rs758876727 0.00002
NM_000214.3(JAG1):c.1329G>A (p.Met443Ile) rs547676061 0.00002
NM_000214.3(JAG1):c.1835A>G (p.Lys612Arg) rs750855317 0.00002
NM_000214.3(JAG1):c.2792C>T (p.Thr931Ile) rs368032094 0.00002
NM_000214.3(JAG1):c.2911T>C (p.Ser971Pro) rs750570683 0.00002
NM_000214.3(JAG1):c.3308C>T (p.Thr1103Ile) rs781429347 0.00002
NM_000214.3(JAG1):c.3523G>A (p.Ala1175Thr) rs769685858 0.00002
NM_000214.3(JAG1):c.3542G>A (p.Arg1181Lys) rs758788135 0.00002
NM_000217.3(KCNA1):c.43G>T (p.Ala15Ser) rs777276806 0.00002
NM_000239.3(LYZ):c.151A>T (p.Lys51Ter) rs367682582 0.00002
NM_000286.3(PEX12):c.352A>G (p.Met118Val) rs773708442 0.00002
NM_000287.4(PEX6):c.1992G>C (p.Glu664Asp) rs267608230 0.00002
NM_000287.4(PEX6):c.2080G>A (p.Val694Ile) rs562698757 0.00002
NM_000304.4(PMP22):c.255C>G (p.Cys85Trp) rs755701957 0.00002
NM_000371.4(TTR):c.209G>A (p.Ser70Asn) rs121918080 0.00002
NM_000371.4(TTR):c.439G>T (p.Glu147Ter) rs730881162 0.00002
NM_000466.3(PEX1):c.665C>T (p.Thr222Ile) rs773922257 0.00002
NM_000487.6(ARSA):c.991G>A (p.Glu331Lys) rs398123419 0.00002
NM_000520.6(HEXA):c.497G>A (p.Arg166His) rs398123442 0.00002
NM_001122955.4(BSCL2):c.1034G>A (p.Arg345Gln) rs202072835 0.00002
NM_001122955.4(BSCL2):c.199A>C (p.Asn67His) rs1057524897 0.00002
NM_001122955.4(BSCL2):c.62A>T (p.Gln21Leu) rs1006065298 0.00002
NM_001122955.4(BSCL2):c.986G>A (p.Arg329Gln) rs771322168 0.00002
NM_001130438.3(SPTAN1):c.2720G>T (p.Arg907Leu) rs780303413 0.00002
NM_001130823.3(DNMT1):c.3167A>G (p.Asn1056Ser) rs767308840 0.00002
NM_001130823.3(DNMT1):c.3394+4C>T rs781376510 0.00002
NM_001130823.3(DNMT1):c.3498G>T (p.Gly1166=) rs1186008456 0.00002
NM_001244008.2(KIF1A):c.1264C>T (p.Arg422Cys) rs374011613 0.00002
NM_001244008.2(KIF1A):c.3271G>C (p.Ala1091Pro) rs779093187 0.00002
NM_001358921.2(COQ2):c.182C>T (p.Ala61Val) rs1233395596 0.00002
NM_001358921.2(COQ2):c.317T>C (p.Phe106Ser) rs370683088 0.00002
NM_001358921.2(COQ2):c.676G>T (p.Gly226Cys) rs553681443 0.00002
NM_001358921.2(COQ2):c.889A>T (p.Ser297Cys) rs566845170 0.00002
NM_001365536.1(SCN9A):c.1238T>C (p.Ile413Thr) rs200689195 0.00002
NM_001365536.1(SCN9A):c.13C>A (p.Pro5Thr) rs201999985 0.00002
NM_001365536.1(SCN9A):c.5408C>G (p.Ser1803Cys) rs372311962 0.00002
NM_001365536.1(SCN9A):c.553C>T (p.Arg185Cys) rs202083986 0.00002
NM_001365951.3(KIF1B):c.1804C>T (p.Arg602Cys) rs767848662 0.00002
NM_001365951.3(KIF1B):c.3119A>G (p.Tyr1040Cys) rs751434716 0.00002
NM_001365951.3(KIF1B):c.3434G>A (p.Arg1145His) rs373663596 0.00002
NM_001365951.3(KIF1B):c.4445G>A (p.Arg1482Gln) rs367778973 0.00002
NM_001365951.3(KIF1B):c.4543C>T (p.Arg1515Cys) rs774445070 0.00002
NM_001365951.3(KIF1B):c.782A>G (p.Lys261Arg) rs868622074 0.00002
NM_001376.5(DYNC1H1):c.12687C>T (p.Gly4229=) rs994411940 0.00002
NM_001376.5(DYNC1H1):c.4597C>G (p.Leu1533Val) rs775825001 0.00002
NM_001953.5(TYMP):c.736G>A (p.Glu246Lys) rs567858165 0.00002
NM_002180.3(IGHMBP2):c.1018G>A (p.Glu340Lys) rs750580259 0.00002
NM_002618.4(PEX13):c.589C>T (p.Arg197Trp) rs903847229 0.00002
NM_002618.4(PEX13):c.595T>A (p.Leu199Ile) rs565873587 0.00002
NM_002693.3(POLG):c.1613A>C (p.Glu538Ala) rs767216577 0.00002
NM_002693.3(POLG):c.2446C>G (p.Leu816Val) rs748262645 0.00002
NM_002693.3(POLG):c.2468G>A (p.Arg823His) rs751172552 0.00002
NM_002693.3(POLG):c.3076C>T (p.Arg1026Cys) rs760043525 0.00002
NM_002693.3(POLG):c.3077G>A (p.Arg1026His) rs777038915 0.00002
NM_002693.3(POLG):c.3532G>A (p.Ala1178Thr) rs770149949 0.00002
NM_002693.3(POLG):c.3560G>A (p.Arg1187Gln) rs199678775 0.00002
NM_002972.4(SBF1):c.1519C>T (p.Arg507Trp) rs756061176 0.00002
NM_003172.4(SURF1):c.409C>T (p.Arg137Trp) rs373551988 0.00002
NM_004048.4(B2M):c.278C>A (p.Thr93Asn) rs778103494 0.00002
NM_004082.5(DCTN1):c.2244C>G (p.Asp748Glu) rs751069902 0.00002
NM_004168.4(SDHA):c.445G>A (p.Ala149Thr) rs575617625 0.00002
NM_006070.6(TFG):c.391C>T (p.Pro131Ser) rs770053266 0.00002
NM_006514.4(SCN10A):c.1276C>T (p.Arg426Trp) rs532774213 0.00002
NM_006514.4(SCN10A):c.2195T>C (p.Phe732Ser) rs373216811 0.00002
NM_006514.4(SCN10A):c.2221C>G (p.Leu741Val) rs137906740 0.00002
NM_006514.4(SCN10A):c.2275C>G (p.Arg759Gly) rs745659019 0.00002
NM_006514.4(SCN10A):c.2579T>C (p.Val860Ala) rs781073957 0.00002
NM_006514.4(SCN10A):c.3474C>G (p.Ile1158Met) rs145568435 0.00002
NM_006514.4(SCN10A):c.3727G>A (p.Val1243Met) rs765684724 0.00002
NM_006514.4(SCN10A):c.434T>C (p.Val145Ala) rs367751260 0.00002
NM_006514.4(SCN10A):c.46T>C (p.Phe16Leu) rs1432009058 0.00002
NM_007289.4(MME):c.346G>A (p.Val116Ile) rs745499234 0.00002
NM_014317.5(PDSS1):c.218G>A (p.Arg73His) rs759788602 0.00002
NM_014317.5(PDSS1):c.83G>T (p.Arg28Leu) rs763915931 0.00002
NM_014317.5(PDSS1):c.859G>A (p.Val287Met) rs768568415 0.00002
NM_015506.3(MMACHC):c.-123A>T rs539415170 0.00002
NM_015506.3(MMACHC):c.354G>A (p.Gln118=) rs765769901 0.00002
NM_015506.3(MMACHC):c.683C>T (p.Ala228Val) rs201269886 0.00002
NM_015506.3(MMACHC):c.800G>A (p.Arg267Gln) rs765822392 0.00002
NM_015506.3(MMACHC):c.840del (p.Gly281fs) rs757384010 0.00002
NM_018979.4(WNK1):c.1776G>C (p.Gln592His) rs747700724 0.00002
NM_018979.4(WNK1):c.2043T>G (p.His681Gln) rs180681076 0.00002
NM_018979.4(WNK1):c.2092G>A (p.Val698Ile) rs764336343 0.00002
NM_018979.4(WNK1):c.2105C>A (p.Ser702Tyr) rs772771448 0.00002
NM_018979.4(WNK1):c.3209+4C>T rs768185780 0.00002
NM_018979.4(WNK1):c.3663+3A>G rs1400756751 0.00002
NM_018979.4(WNK1):c.4043C>T (p.Thr1348Ile) rs746601991 0.00002
NM_018979.4(WNK1):c.404A>G (p.Gln135Arg) rs750301176 0.00002
NM_018979.4(WNK1):c.413C>T (p.Pro138Leu) rs1277355342 0.00002
NM_018979.4(WNK1):c.4357G>A (p.Val1453Ile) rs774635947 0.00002
NM_018979.4(WNK1):c.4364C>T (p.Ala1455Val) rs759951096 0.00002
NM_018979.4(WNK1):c.4823C>T (p.Ala1608Val) rs781667314 0.00002
NM_018979.4(WNK1):c.4826A>G (p.Asn1609Ser) rs775933163 0.00002
NM_018979.4(WNK1):c.521G>A (p.Ser174Asn) rs1012754203 0.00002
NM_018979.4(WNK1):c.5325C>T (p.Ser1775=) rs373370309 0.00002
NM_018979.4(WNK1):c.6230G>A (p.Arg2077Gln) rs771385000 0.00002
NM_018979.4(WNK1):c.6661A>G (p.Thr2221Ala) rs767938457 0.00002
NM_018979.4(WNK1):c.7003G>A (p.Ala2335Thr) rs375901694 0.00002
NM_020247.5(COQ8A):c.1047G>A (p.Met349Ile) rs1473665143 0.00002
NM_020247.5(COQ8A):c.853+10C>T rs367945973 0.00002
NM_020312.4(COQ9):c.362T>C (p.Ile121Thr) rs547254482 0.00002
NM_020381.4(PDSS2):c.602A>G (p.Asn201Ser) rs1476658817 0.00002
NM_020631.6(PLEKHG5):c.895T>G (p.Trp299Gly) rs112657733 0.00002
NM_021625.5(TRPV4):c.1376T>G (p.Leu459Arg) rs201132615 0.00002
NM_022489.4(INF2):c.1208A>G (p.Glu403Gly) rs1356183663 0.00002
NM_022489.4(INF2):c.1615G>A (p.Val539Met) rs769014945 0.00002
NM_022489.4(INF2):c.1811G>A (p.Arg604Gln) rs752971046 0.00002
NM_022489.4(INF2):c.1979G>A (p.Arg660Gln) rs756754311 0.00002
NM_022489.4(INF2):c.2410G>A (p.Val804Met) rs199979156 0.00002
NM_022489.4(INF2):c.2572G>A (p.Val858Met) rs201292830 0.00002
NM_022489.4(INF2):c.2891C>G (p.Pro964Arg) rs748286029 0.00002
NM_033305.3(VPS13A):c.5246C>T (p.Ser1749Leu) rs781398633 0.00002
NM_170707.4(LMNA):c.-1C>A rs886043355 0.00002
NM_170707.4(LMNA):c.1187A>T (p.Gln396Leu) rs61693978 0.00002
NM_170707.4(LMNA):c.1190G>A (p.Arg397His) rs747952058 0.00002
NM_170707.4(LMNA):c.1279C>T (p.Arg427Cys) rs373584456 0.00002
NM_170707.4(LMNA):c.1608+10C>T rs748917147 0.00002
NM_170707.4(LMNA):c.1879C>T (p.Arg627Cys) rs777841827 0.00002
NM_170707.4(LMNA):c.1960C>T (p.Arg654Ter) rs267607544 0.00002
NM_170707.4(LMNA):c.290A>C (p.Lys97Thr) rs1060502216 0.00002
NM_170707.4(LMNA):c.566G>A (p.Arg189Gln) rs766856162 0.00002
NM_170707.4(LMNA):c.647G>A (p.Arg216His) rs757041809 0.00002
NM_170707.4(LMNA):c.658C>T (p.Arg220Cys) rs370134870 0.00002
NM_170707.4(LMNA):c.74G>T (p.Arg25Leu) rs61578124 0.00002
NM_170707.4(LMNA):c.886C>T (p.Arg296Cys) rs375987939 0.00002
NM_170707.4(LMNA):c.977C>T (p.Ser326Leu) rs745540806 0.00002
NM_170707.4(LMNA):c.986G>A (p.Arg329His) rs397517913 0.00002
NM_198252.3(GSN):c.1870A>G (p.Lys624Glu) rs756053203 0.00002
NM_198252.3(GSN):c.2032C>T (p.Arg678Trp) rs755630687 0.00002
NM_213655.5(WNK1):c.2233G>A (p.Ala745Thr) rs763686798 0.00002
NM_213655.5(WNK1):c.2359C>T (p.Arg787Ter) rs748504277 0.00002
NM_213655.5(WNK1):c.3218G>A (p.Arg1073His) rs745947901 0.00002
NM_000039.3(APOA1):c.101G>T (p.Arg34Leu) rs28929476 0.00001
NM_000052.7(ATP7A):c.1558C>T (p.Leu520Phe) rs1331470313 0.00001
NM_000052.7(ATP7A):c.3070A>G (p.Ile1024Val) rs1341604631 0.00001
NM_000052.7(ATP7A):c.368G>A (p.Arg123Lys) rs782664232 0.00001
NM_000081.4(LYST):c.5578A>G (p.Met1860Val) rs368738466 0.00001
NM_000081.4(LYST):c.5620T>A (p.Phe1874Ile) rs757494655 0.00001
NM_000143.4(FH):c.1259C>T (p.Ala420Val) rs766377516 0.00001
NM_000143.4(FH):c.193G>A (p.Asp65Asn) rs769956664 0.00001
NM_000143.4(FH):c.292A>G (p.Ile98Val) rs1660147766 0.00001
NM_000143.4(FH):c.776T>C (p.Met259Thr) rs1407485828 0.00001
NM_000153.4(GALC):c.233A>G (p.Tyr78Cys) rs367958957 0.00001
NM_000153.4(GALC):c.582+5G>A rs757016859 0.00001
NM_000166.6(GJB1):c.790C>T (p.Arg264Cys) rs587777879 0.00001
NM_000182.5(HADHA):c.1829G>A (p.Arg610Gln) rs373966336 0.00001
NM_000182.5(HADHA):c.67+3G>A rs759265828 0.00001
NM_000214.3(JAG1):c.1057G>C (p.Glu353Gln) rs1600185499 0.00001
NM_000214.3(JAG1):c.1064C>T (p.Ser355Phe) rs1235681626 0.00001
NM_000214.3(JAG1):c.1270G>A (p.Ala424Thr) rs755648887 0.00001
NM_000214.3(JAG1):c.1308C>T (p.Cys436=) rs764485729 0.00001
NM_000214.3(JAG1):c.1367G>A (p.Gly456Asp) rs534533867 0.00001
NM_000214.3(JAG1):c.1394G>A (p.Arg465Gln) rs558315798 0.00001
NM_000214.3(JAG1):c.1444G>A (p.Asp482Asn) rs766370717 0.00001
NM_000214.3(JAG1):c.1702C>T (p.Arg568Cys) rs748384232 0.00001
NM_000214.3(JAG1):c.2413C>T (p.Arg805Trp) rs1458651228 0.00001
NM_000214.3(JAG1):c.2609T>C (p.Ile870Thr) rs1386302689 0.00001
NM_000214.3(JAG1):c.2615A>G (p.Asp872Gly) rs111706668 0.00001
NM_000214.3(JAG1):c.2779G>A (p.Val927Ile) rs770415804 0.00001
NM_000214.3(JAG1):c.2998A>G (p.Ile1000Val) rs773974344 0.00001
NM_000214.3(JAG1):c.3017C>T (p.Pro1006Leu) rs747142039 0.00001
NM_000214.3(JAG1):c.3098A>G (p.Asp1033Gly) rs748220102 0.00001
NM_000214.3(JAG1):c.3109G>A (p.Asp1037Asn) rs768823146 0.00001
NM_000214.3(JAG1):c.3287G>A (p.Arg1096Gln) rs2067258057 0.00001
NM_000214.3(JAG1):c.3385C>A (p.His1129Asn) rs768642155 0.00001
NM_000214.3(JAG1):c.3506G>A (p.Arg1169Gln) rs1268561604 0.00001
NM_000214.3(JAG1):c.3524C>T (p.Ala1175Val) rs918046091 0.00001
NM_000214.3(JAG1):c.3562G>A (p.Gly1188Ser) rs1051571820 0.00001
NM_000214.3(JAG1):c.418G>A (p.Asp140Asn) rs1456733889 0.00001
NM_000214.3(JAG1):c.448A>G (p.Ser150Gly) rs1229047867 0.00001
NM_000214.3(JAG1):c.860A>G (p.Asn287Ser) rs768317581 0.00001
NM_000214.3(JAG1):c.868G>A (p.Gly290Ser) rs1412480153 0.00001
NM_000214.3(JAG1):c.978G>A (p.Glu326=) rs1480738447 0.00001
NM_000217.3(KCNA1):c.1328G>A (p.Arg443His) rs139383685 0.00001
NM_000217.3(KCNA1):c.19G>A (p.Glu7Lys) rs529968149 0.00001
NM_000217.3(KCNA1):c.208A>G (p.Met70Val) rs1220977526 0.00001
NM_000217.3(KCNA1):c.410T>C (p.Ile137Thr) rs780062452 0.00001
NM_000217.3(KCNA1):c.76C>T (p.Arg26Trp) rs373645838 0.00001
NM_000239.3(LYZ):c.199G>C (p.Asp67His) rs387906535 0.00001
NM_000263.4(NAGLU):c.1621C>T (p.Arg541Trp) rs780527821 0.00001
NM_000263.4(NAGLU):c.1843C>T (p.Arg615Cys) rs199729746 0.00001
NM_000263.4(NAGLU):c.530G>A (p.Arg177Gln) rs1323850779 0.00001
NM_000274.4(OAT):c.461G>A (p.Arg154His) rs121965039 0.00001
NM_000274.4(OAT):c.698A>G (p.Gln233Arg) rs386833615 0.00001
NM_000286.3(PEX12):c.856G>A (p.Val286Ile) rs766182813 0.00001
NM_000287.4(PEX6):c.1236G>A (p.Val412=) rs1196012985 0.00001
NM_000287.4(PEX6):c.1931G>A (p.Arg644Gln) rs746117128 0.00001
NM_000287.4(PEX6):c.1958C>T (p.Ser653Leu) rs267608228 0.00001
NM_000287.4(PEX6):c.719C>G (p.Ala240Gly) rs372269200 0.00001
NM_000288.4(PEX7):c.129G>C (p.Ala43=) rs1256466654 0.00001
NM_000288.4(PEX7):c.554T>C (p.Val185Ala) rs1424846175 0.00001
NM_000288.4(PEX7):c.803+4C>G rs759745913 0.00001
NM_000304.4(PMP22):c.478G>A (p.Glu160Lys) rs1022583382 0.00001
NM_000318.3(PEX2):c.482G>A (p.Gly161Glu) rs761177481 0.00001
NM_000318.3(PEX2):c.782A>G (p.His261Arg) rs749956542 0.00001
NM_000371.4(TTR):c.127A>C (p.Ser43Arg) rs11541800 0.00001
NM_000371.4(TTR):c.136A>G (p.Ile46Val) rs773584864 0.00001
NM_000371.4(TTR):c.151C>A (p.His51Asn) rs915983905 0.00001
NM_000371.4(TTR):c.200+4A>G rs751512499 0.00001
NM_000371.4(TTR):c.263T>C (p.Ile88Thr) rs1567946180 0.00001
NM_000371.4(TTR):c.301G>A (p.Ala101Thr) rs730881165 0.00001
NM_000371.4(TTR):c.314C>T (p.Ser105Phe) rs1322942118 0.00001
NM_000371.4(TTR):c.406T>C (p.Tyr136His) rs766909913 0.00001
NM_000371.4(TTR):c.68C>T (p.Thr23Met) rs377052919 0.00001
NM_000466.3(PEX1):c.254G>A (p.Gly85Glu) rs771224088 0.00001
NM_000466.3(PEX1):c.2926+4A>G rs749060853 0.00001
NM_000487.6(ARSA):c.1522C>T (p.His508Tyr) rs1278738755 0.00001
NM_000520.6(HEXA):c.1309G>A (p.Val437Met) rs2088616485 0.00001
NM_000520.6(HEXA):c.275A>G (p.Lys92Arg) rs1208872523 0.00001
NM_000543.5(SMPD1):c.1833C>G (p.His611Gln) rs1397949984 0.00001
NM_000543.5(SMPD1):c.211G>A (p.Ala71Thr) rs375224040 0.00001
NM_000784.4(CYP27A1):c.1342C>T (p.Arg448Cys) rs730882199 0.00001
NM_000784.4(CYP27A1):c.968G>A (p.Arg323Gln) rs769640126 0.00001
NM_001122955.4(BSCL2):c.1022G>A (p.Arg341Lys) rs144725547 0.00001
NM_001122955.4(BSCL2):c.1033C>T (p.Arg345Trp) rs767820877 0.00001
NM_001122955.4(BSCL2):c.1069C>T (p.Pro357Ser) rs781022347 0.00001
NM_001122955.4(BSCL2):c.1071A>G (p.Pro357=) rs113336810 0.00001
NM_001122955.4(BSCL2):c.1160A>G (p.Gln387Arg) rs779682500 0.00001
NM_001122955.4(BSCL2):c.1234+6G>A rs762726296 0.00001
NM_001122955.4(BSCL2):c.1264C>G (p.Leu422Val) rs772442281 0.00001
NM_001122955.4(BSCL2):c.1298C>T (p.Ala433Val) rs141657385 0.00001
NM_001122955.4(BSCL2):c.214C>G (p.Pro72Ala) rs2083513120 0.00001
NM_001122955.4(BSCL2):c.257G>A (p.Gly86Asp) rs772832629 0.00001
NM_001122955.4(BSCL2):c.270G>T (p.Arg90Ser) rs756668260 0.00001
NM_001122955.4(BSCL2):c.466A>G (p.Thr156Ala) rs137930278 0.00001
NM_001126121.2(SLC25A19):c.590G>T (p.Ser197Ile) rs769399113 0.00001
NM_001130823.3(DNMT1):c.1008G>A (p.Lys336=) rs750048459 0.00001
NM_001130823.3(DNMT1):c.4001C>T (p.Ala1334Val) rs766051225 0.00001
NM_001130823.3(DNMT1):c.898A>C (p.Lys300Gln) rs759143980 0.00001
NM_001130823.3(DNMT1):c.937C>T (p.Arg313Trp) rs1372902099 0.00001
NM_001244008.2(KIF1A):c.2248G>A (p.Val750Met) rs374794257 0.00001
NM_001244008.2(KIF1A):c.3670C>T (p.Arg1224Trp) rs368577433 0.00001
NM_001244008.2(KIF1A):c.4750G>A (p.Glu1584Lys) rs770455518 0.00001
NM_001244008.2(KIF1A):c.5095G>A (p.Val1699Met) rs1559472826 0.00001
NM_001351132.2(PEX5):c.1870G>A (p.Asp624Asn) rs201963167 0.00001
NM_001358921.2(COQ2):c.165G>C (p.Gln55His) rs747231025 0.00001
NM_001358921.2(COQ2):c.800C>T (p.Thr267Met) rs761785906 0.00001
NM_001358921.2(COQ2):c.89C>T (p.Ala30Val) rs942463668 0.00001
NM_001358921.2(COQ2):c.925G>T (p.Ala309Ser) rs771166601 0.00001
NM_001365536.1(SCN9A):c.2348T>C (p.Phe783Ser) rs554539624 0.00001
NM_001365536.1(SCN9A):c.5467C>T (p.Leu1823Phe) rs752580340 0.00001
NM_001365536.1(SCN9A):c.5837C>G (p.Thr1946Arg) rs760097843 0.00001
NM_001365536.1(SCN9A):c.5948G>T (p.Ser1983Ile) rs770802841 0.00001
NM_001365951.3(KIF1B):c.109A>G (p.Ile37Val) rs779530504 0.00001
NM_001365951.3(KIF1B):c.1133G>A (p.Arg378Gln) rs750790168 0.00001
NM_001365951.3(KIF1B):c.3827C>T (p.Ala1276Val) rs747752091 0.00001
NM_001365951.3(KIF1B):c.392A>G (p.Asn131Ser) rs776533873 0.00001
NM_001365951.3(KIF1B):c.4297C>A (p.Pro1433Thr) rs757899517 0.00001
NM_001365951.3(KIF1B):c.4970C>T (p.Ala1657Val) rs758879647 0.00001
NM_001365951.3(KIF1B):c.5036C>G (p.Ala1679Gly) rs776751303 0.00001
NM_001365951.3(KIF1B):c.5214C>G (p.Asp1738Glu) rs774464311 0.00001
NM_001365951.3(KIF1B):c.791G>A (p.Arg264Gln) rs376807805 0.00001
NM_001370658.1(BTD):c.1379G>A (p.Gly460Glu) rs558477960 0.00001
NM_001370658.1(BTD):c.320C>T (p.Pro107Leu) rs575787457 0.00001
NM_001370658.1(BTD):c.545A>G (p.Asn182Ser) rs397514376 0.00001
NM_001376.5(DYNC1H1):c.13414G>A (p.Gly4472Ser) rs199692678 0.00001
NM_001376.5(DYNC1H1):c.9193G>A (p.Val3065Met) rs377668381 0.00001
NM_001386140.1(MTTP):c.1636A>G (p.Ile546Val) rs200992175 0.00001
NM_001386140.1(MTTP):c.863C>A (p.Pro288His) rs1022457887 0.00001
NM_001540.5(HSPB1):c.142G>A (p.Gly48Ser) rs546699221 0.00001
NM_002180.3(IGHMBP2):c.1106T>A (p.Phe369Tyr) rs756791529 0.00001
NM_002437.5(MPV17):c.283G>A (p.Gly95Ser) rs980207020 0.00001
NM_002529.4(NTRK1):c.2105G>A (p.Arg702His) rs200022271 0.00001
NM_002529.4(NTRK1):c.988A>G (p.Thr330Ala) rs779155543 0.00001
NM_002617.4(PEX10):c.338T>C (p.Leu113Pro) rs757778155 0.00001
NM_002617.4(PEX10):c.838C>T (p.Arg280Cys) rs750424221 0.00001
NM_002617.4(PEX10):c.977G>A (p.Arg326His) rs140890506 0.00001
NM_002693.3(POLG):c.114G>T (p.Gly38=) rs794727268 0.00001
NM_002693.3(POLG):c.1328G>A (p.Arg443His) rs796052903 0.00001
NM_002693.3(POLG):c.1669G>C (p.Glu557Gln) rs1481695998 0.00001
NM_002693.3(POLG):c.1882C>T (p.Arg628Trp) rs754245040 0.00001
NM_002693.3(POLG):c.1907C>G (p.Thr636Arg) rs917815816 0.00001
NM_002693.3(POLG):c.191C>G (p.Ser64Trp) rs1397887879 0.00001
NM_002693.3(POLG):c.1936G>T (p.Val646Phe) rs757131755 0.00001
NM_002693.3(POLG):c.200G>C (p.Gly67Ala) rs1399456619 0.00001
NM_002693.3(POLG):c.2257C>T (p.Pro753Ser) rs1446536384 0.00001
NM_002693.3(POLG):c.2510A>G (p.Tyr837Cys) rs778190998 0.00001
NM_002693.3(POLG):c.2608G>C (p.Val870Leu) rs1329611992 0.00001
NM_002693.3(POLG):c.3204C>G (p.Asp1068Glu) rs1057523186 0.00001
NM_002693.3(POLG):c.3211C>T (p.Arg1071Cys) rs762593265 0.00001
NM_002693.3(POLG):c.3227G>A (p.Gly1076Asp) rs1381291951 0.00001
NM_002693.3(POLG):c.3273+17G>A rs368578878 0.00001
NM_002693.3(POLG):c.3317T>C (p.Val1106Ala) rs1354582663 0.00001
NM_002693.3(POLG):c.3442C>T (p.Arg1148Cys) rs149099318 0.00001
NM_002693.3(POLG):c.3505G>A (p.Gly1169Ser) rs753864625 0.00001
NM_002693.3(POLG):c.402C>G (p.Asn134Lys) rs759939229 0.00001
NM_002693.3(POLG):c.431A>G (p.Gln144Arg) rs1056580076 0.00001
NM_002693.3(POLG):c.730C>G (p.Leu244Val) rs367959489 0.00001
NM_002693.3(POLG):c.856-3C>T rs576339221 0.00001
NM_002693.3(POLG):c.869G>A (p.Arg290His) rs146603953 0.00001
NM_002693.3(POLG):c.86C>G (p.Ser29Cys) rs796052895 0.00001
NM_002693.3(POLG):c.995C>T (p.Ser332Phe) rs1567192290 0.00001
NM_002778.4(PSAP):c.1192G>A (p.Val398Ile) rs759178813 0.00001
NM_002778.4(PSAP):c.67A>G (p.Lys23Glu) rs143016278 0.00001
NM_002972.4(SBF1):c.3068C>G (p.Thr1023Ser) rs548786259 0.00001
NM_002972.4(SBF1):c.4554+6C>T rs369895606 0.00001
NM_003384.3(VRK1):c.6del (p.Arg3fs) rs780789145 0.00001
NM_003477.3(PDHX):c.1034A>T (p.Asp345Val) rs556425857 0.00001
NM_003477.3(PDHX):c.44G>A (p.Arg15His) rs387906998 0.00001
NM_003560.4(PLA2G6):c.1531C>G (p.Leu511Val) rs886057503 0.00001
NM_003560.4(PLA2G6):c.2236G>T (p.Ala746Ser) rs563222818 0.00001
NM_003560.4(PLA2G6):c.68G>A (p.Arg23Gln) rs372291638 0.00001
NM_003680.4(YARS1):c.322A>G (p.Ile108Val) rs1467446637 0.00001
NM_004048.4(B2M):c.160G>A (p.Asp54Asn) rs148494241 0.00001
NM_004082.5(DCTN1):c.1837C>T (p.Pro613Ser) rs372808221 0.00001
NM_004082.5(DCTN1):c.2545G>A (p.Ala849Thr) rs769512188 0.00001
NM_004082.5(DCTN1):c.2686C>G (p.Leu896Val) rs545910781 0.00001
NM_004082.5(DCTN1):c.43G>A (p.Gly15Ser) rs72466482 0.00001
NM_004168.4(SDHA):c.1150T>G (p.Ser384Ala) rs776888362 0.00001
NM_004168.4(SDHA):c.1753C>T (p.Arg585Trp) rs200397144 0.00001
NM_004168.4(SDHA):c.694C>T (p.Arg232Cys) rs878854635 0.00001
NM_004168.4(SDHA):c.812C>G (p.Thr271Ser) rs765611464 0.00001
NM_004168.4(SDHA):c.902A>G (p.Tyr301Cys) rs182055219 0.00001
NM_004208.4(AIFM1):c.1693A>G (p.Ile565Val) rs1375125488 0.00001
NM_004565.3(PEX14):c.1081G>A (p.Val361Met) rs1041756834 0.00001
NM_005572.4(LMNA):c.1715G>A (p.Arg572His) rs1158300738 0.00001
NM_005908.4(MANBA):c.1072A>G (p.Ile358Val) rs199966543 0.00001
NM_006329.4(FBLN5):c.245A>C (p.Asn82Thr) rs759508064 0.00001
NM_006329.4(FBLN5):c.834C>G (p.Ile278Met) rs1889546743 0.00001
NM_006514.4(SCN10A):c.2158G>A (p.Asp720Asn) rs781354273 0.00001
NM_006514.4(SCN10A):c.2616G>A (p.Thr872=) rs754088416 0.00001
NM_006514.4(SCN10A):c.2923C>T (p.Gln975Ter) rs755553717 0.00001
NM_006514.4(SCN10A):c.2965G>A (p.Ala989Thr) rs766280701 0.00001
NM_006514.4(SCN10A):c.3421G>A (p.Val1141Met) rs112412281 0.00001
NM_006514.4(SCN10A):c.3476T>A (p.Ile1159Asn) rs777240104 0.00001
NM_006514.4(SCN10A):c.3802C>T (p.Arg1268Trp) rs766044301 0.00001
NM_006514.4(SCN10A):c.3890T>G (p.Ile1297Ser) rs978977328 0.00001
NM_006514.4(SCN10A):c.4763G>A (p.Arg1588Gln) rs376439863 0.00001
NM_006514.4(SCN10A):c.5177A>G (p.Asn1726Ser) rs1420941706 0.00001
NM_006514.4(SCN10A):c.5588G>A (p.Arg1863Gln) rs191869263 0.00001
NM_006514.4(SCN10A):c.883C>T (p.Pro295Ser) rs371909817 0.00001
NM_007254.4(PNKP):c.1389T>G (p.Phe463Leu) rs763116781 0.00001
NM_007254.4(PNKP):c.1430T>C (p.Met477Thr) rs766655539 0.00001
NM_007254.4(PNKP):c.625G>A (p.Glu209Lys) rs773641701 0.00001
NM_014317.5(PDSS1):c.1099G>A (p.Val367Ile) rs752338178 0.00001
NM_014317.5(PDSS1):c.270A>T (p.Glu90Asp) rs147126048 0.00001
NM_014317.5(PDSS1):c.296G>T (p.Gly99Val) rs777579681 0.00001
NM_014317.5(PDSS1):c.70G>C (p.Gly24Arg) rs1002908038 0.00001
NM_014317.5(PDSS1):c.802G>A (p.Ala268Thr) rs767397399 0.00001
NM_014317.5(PDSS1):c.988G>A (p.Gly330Arg) rs773085493 0.00001
NM_014845.6(FIG4):c.2444T>C (p.Phe815Ser) rs375414729 0.00001
NM_015046.7(SETX):c.1989_1994del (p.Ile664_Glu665del) rs773195802 0.00001
NM_015046.7(SETX):c.71A>G (p.Asn24Ser) rs981346599 0.00001
NM_015506.3(MMACHC):c.222G>C (p.Met74Ile) rs772225967 0.00001
NM_015506.3(MMACHC):c.230A>G (p.Asp77Gly) rs1217366809 0.00001
NM_015506.3(MMACHC):c.38A>C (p.Glu13Ala) rs1010232462 0.00001
NM_015506.3(MMACHC):c.434T>C (p.Ile145Thr) rs759921519 0.00001
NM_015506.3(MMACHC):c.548T>C (p.Val183Ala) rs780926592 0.00001
NM_015697.9(COQ2):c.83C>A (p.Ala28Glu) rs371993270 0.00001
NM_018979.4(WNK1):c.131C>T (p.Ala44Val) rs754447060 0.00001
NM_018979.4(WNK1):c.1606G>C (p.Val536Leu) rs145646194 0.00001
NM_018979.4(WNK1):c.1620+4A>C rs765206647 0.00001
NM_018979.4(WNK1):c.1621-3T>C rs746698174 0.00001
NM_018979.4(WNK1):c.1701G>C (p.Arg567Ser) rs1280224791 0.00001
NM_018979.4(WNK1):c.1823C>G (p.Ser608Cys) rs1455320237 0.00001
NM_018979.4(WNK1):c.2006T>G (p.Val669Gly) rs756433100 0.00001
NM_018979.4(WNK1):c.2558C>T (p.Thr853Met) rs766223909 0.00001
NM_018979.4(WNK1):c.2625G>A (p.Thr875=) rs763000812 0.00001
NM_018979.4(WNK1):c.2677C>G (p.Pro893Ala) rs1206597194 0.00001
NM_018979.4(WNK1):c.2710A>G (p.Thr904Ala) rs752492830 0.00001
NM_018979.4(WNK1):c.2969A>G (p.Tyr990Cys) rs886049923 0.00001
NM_018979.4(WNK1):c.3029T>C (p.Val1010Ala) rs769099133 0.00001
NM_018979.4(WNK1):c.3102A>G (p.Ala1034=) rs747140718 0.00001
NM_018979.4(WNK1):c.3182C>T (p.Pro1061Leu) rs756270744 0.00001
NM_018979.4(WNK1):c.3215A>C (p.His1072Pro) rs376433723 0.00001
NM_018979.4(WNK1):c.3545G>A (p.Arg1182Gln) rs749563110 0.00001
NM_018979.4(WNK1):c.3614G>A (p.Gly1205Glu) rs761597327 0.00001
NM_018979.4(WNK1):c.3662A>G (p.Gln1221Arg) rs886049925 0.00001
NM_018979.4(WNK1):c.392C>G (p.Ser131Cys) rs763490893 0.00001
NM_018979.4(WNK1):c.3932G>T (p.Arg1311Ile) rs773117623 0.00001
NM_018979.4(WNK1):c.4058C>T (p.Thr1353Ile) rs1182500229 0.00001
NM_018979.4(WNK1):c.418G>A (p.Ala140Thr) rs777744427 0.00001
NM_018979.4(WNK1):c.428C>G (p.Pro143Arg) rs1231436981 0.00001
NM_018979.4(WNK1):c.4321G>A (p.Val1441Ile) rs72650731 0.00001
NM_018979.4(WNK1):c.458C>T (p.Pro153Leu) rs765331494 0.00001
NM_018979.4(WNK1):c.4766C>T (p.Thr1589Ile) rs1397083515 0.00001
NM_018979.4(WNK1):c.4856A>T (p.His1619Leu) rs1159092269 0.00001
NM_018979.4(WNK1):c.4931C>T (p.Pro1644Leu) rs546470175 0.00001
NM_018979.4(WNK1):c.5057G>A (p.Ser1686Asn) rs773910482 0.00001
NM_018979.4(WNK1):c.515T>C (p.Val172Ala) rs772520982 0.00001
NM_018979.4(WNK1):c.5177C>T (p.Thr1726Ile) rs145675918 0.00001
NM_018979.4(WNK1):c.5303T>G (p.Leu1768Arg) rs1328963512 0.00001
NM_018979.4(WNK1):c.5312G>T (p.Gly1771Val) rs770566791 0.00001
NM_018979.4(WNK1):c.5442G>A (p.Ala1814=) rs557930357 0.00001
NM_018979.4(WNK1):c.5448+2dup rs774783305 0.00001
NM_018979.4(WNK1):c.5492C>G (p.Thr1831Arg) rs373765496 0.00001
NM_018979.4(WNK1):c.5530C>T (p.Pro1844Ser) rs769345308 0.00001
NM_018979.4(WNK1):c.5636A>G (p.Asp1879Gly) rs968933608 0.00001
NM_018979.4(WNK1):c.5818C>T (p.Pro1940Ser) rs1416374405 0.00001
NM_018979.4(WNK1):c.595C>G (p.Gln199Glu) rs1404174344 0.00001
NM_018979.4(WNK1):c.6095C>T (p.Ser2032Leu) rs780191582 0.00001
NM_018979.4(WNK1):c.6110G>A (p.Ser2037Asn) rs1273114507 0.00001
NM_018979.4(WNK1):c.6233G>A (p.Arg2078Gln) rs1043098905 0.00001
NM_018979.4(WNK1):c.6670G>T (p.Ala2224Ser) rs763836773 0.00001
NM_018979.4(WNK1):c.6691G>A (p.Ala2231Thr) rs778252327 0.00001
NM_018979.4(WNK1):c.6797G>T (p.Gly2266Val) rs770327670 0.00001
NM_018979.4(WNK1):c.6986C>T (p.Pro2329Leu) rs781574573 0.00001
NM_018979.4(WNK1):c.6997T>C (p.Phe2333Leu) rs1955898305 0.00001
NM_018979.4(WNK1):c.7058C>A (p.Pro2353His) rs375566748 0.00001
NM_018979.4(WNK1):c.7092del (p.Ser2365fs) rs1565626117 0.00001
NM_018979.4(WNK1):c.94G>T (p.Asp32Tyr) rs1364175663 0.00001
NM_020381.4(PDSS2):c.488G>A (p.Arg163His) rs142617068 0.00001
NM_020381.4(PDSS2):c.500A>G (p.Asn167Ser) rs201218141 0.00001
NM_020381.4(PDSS2):c.700A>G (p.Lys234Glu) rs372737420 0.00001
NM_020381.4(PDSS2):c.737C>T (p.Thr246Ile) rs148107195 0.00001
NM_021625.5(TRPV4):c.184G>A (p.Asp62Asn) rs770149544 0.00001
NM_021625.5(TRPV4):c.2425G>A (p.Gly809Ser) rs375851168 0.00001
NM_021625.5(TRPV4):c.2471C>T (p.Ser824Leu) rs764622721 0.00001
NM_021815.5(SLC5A7):c.665C>T (p.Ala222Val) rs1351029450 0.00001
NM_022041.4(GAN):c.602G>A (p.Arg201Gln) rs967957134 0.00001
NM_022489.4(INF2):c.1067C>T (p.Ala356Val) rs375622503 0.00001
NM_022489.4(INF2):c.1189G>A (p.Val397Met) rs771775245 0.00001
NM_022489.4(INF2):c.1447T>G (p.Ser483Ala) rs1218562289 0.00001
NM_022489.4(INF2):c.1593G>A (p.Ala531=) rs186326868 0.00001
NM_022489.4(INF2):c.1792G>A (p.Asp598Asn) rs368948089 0.00001
NM_022489.4(INF2):c.1994C>T (p.Thr665Ile) rs1279137766 0.00001
NM_022489.4(INF2):c.2578G>A (p.Glu860Lys) rs376094545 0.00001
NM_022489.4(INF2):c.2672G>A (p.Arg891Gln) rs777498088 0.00001
NM_022489.4(INF2):c.2767G>A (p.Ala923Thr) rs774099930 0.00001
NM_022489.4(INF2):c.2843A>C (p.Glu948Ala) rs1473555311 0.00001
NM_022489.4(INF2):c.2863G>C (p.Glu955Gln) rs1440140886 0.00001
NM_022489.4(INF2):c.2869G>A (p.Gly957Arg) rs984879135 0.00001
NM_022489.4(INF2):c.2923G>T (p.Ala975Ser) rs776214674 0.00001
NM_022489.4(INF2):c.2960G>A (p.Arg987Gln) rs757988412 0.00001
NM_022489.4(INF2):c.3053A>G (p.Asn1018Ser) rs1249757355 0.00001
NM_022489.4(INF2):c.3061G>A (p.Gly1021Arg) rs762689516 0.00001
NM_022489.4(INF2):c.3115A>G (p.Thr1039Ala) rs1316234873 0.00001
NM_022489.4(INF2):c.3126C>T (p.Ser1042=) rs1035033414 0.00001
NM_022489.4(INF2):c.3250G>A (p.Asp1084Asn) rs557741807 0.00001
NM_022489.4(INF2):c.3356A>C (p.Asn1119Thr) rs200246759 0.00001
NM_022489.4(INF2):c.3373G>A (p.Gly1125Arg) rs775116734 0.00001
NM_022489.4(INF2):c.3418G>A (p.Val1140Ile) rs199640596 0.00001
NM_022489.4(INF2):c.3535A>G (p.Thr1179Ala) rs778879482 0.00001
NM_022489.4(INF2):c.3583G>A (p.Glu1195Lys) rs1064796974 0.00001
NM_022489.4(INF2):c.3625A>G (p.Arg1209Gly) rs989477091 0.00001
NM_022489.4(INF2):c.3637C>T (p.Arg1213Trp) rs200823300 0.00001
NM_022489.4(INF2):c.409G>A (p.Val137Met) rs200713451 0.00001
NM_022489.4(INF2):c.410T>G (p.Val137Gly) rs760611306 0.00001
NM_022489.4(INF2):c.509C>T (p.Thr170Met) rs767698763 0.00001
NM_022489.4(INF2):c.571G>A (p.Val191Met) rs1416500072 0.00001
NM_022489.4(INF2):c.634C>T (p.Arg212Cys) rs748481552 0.00001
NM_022489.4(INF2):c.667G>A (p.Gly223Arg) rs1209201341 0.00001
NM_022489.4(INF2):c.695G>A (p.Arg232His) rs767940514 0.00001
NM_022489.4(INF2):c.733C>G (p.Leu245Val) rs765986755 0.00001
NM_022489.4(INF2):c.745G>A (p.Glu249Lys) rs375843743 0.00001
NM_022489.4(INF2):c.799G>A (p.Asp267Asn) rs772599038 0.00001
NM_022489.4(INF2):c.839A>G (p.His280Arg) rs759115381 0.00001
NM_022489.4(INF2):c.986-9C>G rs761206810 0.00001
NM_024577.4(SH3TC2):c.224G>A (p.Arg75Gln) rs749772988 0.00001
NM_024577.4(SH3TC2):c.2528G>T (p.Gly843Val) rs1463859150 0.00001
NM_024577.4(SH3TC2):c.559G>A (p.Val187Met) rs745613768 0.00001
NM_025137.4(SPG11):c.4702G>A (p.Ala1568Thr) rs767343843 0.00001
NM_025137.4(SPG11):c.5306T>C (p.Met1769Thr) rs748258958 0.00001
NM_025137.4(SPG11):c.6458G>T (p.Ser2153Ile) rs543344637 0.00001
NM_025137.4(SPG11):c.7326del (p.Gly2443fs) rs751228307 0.00001
NM_030962.4(SBF2):c.854A>G (p.His285Arg) rs146971151 0.00001
NM_033305.3(VPS13A):c.2089A>G (p.Asn697Asp) rs549929120 0.00001
NM_033305.3(VPS13A):c.6096-3C>A rs753054165 0.00001
NM_170707.4(LMNA):c.1027C>T (p.Arg343Trp) rs749784223 0.00001
NM_170707.4(LMNA):c.1044G>T (p.Met348Ile) rs587777892 0.00001
NM_170707.4(LMNA):c.1184C>T (p.Ser395Leu) rs267607561 0.00001
NM_170707.4(LMNA):c.1195C>T (p.Arg399Cys) rs58672172 0.00001
NM_170707.4(LMNA):c.1231G>T (p.Gly411Cys) rs727504852 0.00001
NM_170707.4(LMNA):c.1280G>A (p.Arg427His) rs747139279 0.00001
NM_170707.4(LMNA):c.1282A>G (p.Ser428Gly) rs1651628416 0.00001
NM_170707.4(LMNA):c.1300G>A (p.Ala434Thr) rs748433620 0.00001
NM_170707.4(LMNA):c.1306A>G (p.Thr436Ala) rs876657849 0.00001
NM_170707.4(LMNA):c.1358G>A (p.Arg453Gln) rs267607598 0.00001
NM_170707.4(LMNA):c.1363C>T (p.Arg455Cys) rs397517892 0.00001
NM_170707.4(LMNA):c.1364G>A (p.Arg455His) rs267607597 0.00001
NM_170707.4(LMNA):c.1381G>T (p.Asp461Tyr) rs267607642 0.00001
NM_170707.4(LMNA):c.1487C>T (p.Thr496Met) rs200466188 0.00001
NM_170707.4(LMNA):c.1601C>G (p.Thr534Ser) rs144740174 0.00001
NM_170707.4(LMNA):c.1750C>T (p.Arg584Cys) rs578193315 0.00001
NM_170707.4(LMNA):c.1751G>A (p.Arg584His) rs56657623 0.00001
NM_170707.4(LMNA):c.1765G>A (p.Gly589Arg) rs372201662 0.00001
NM_170707.4(LMNA):c.1774G>A (p.Gly592Arg) rs786205448 0.00001
NM_170707.4(LMNA):c.1825G>A (p.Gly609Arg) rs397517898 0.00001
NM_170707.4(LMNA):c.1867A>G (p.Thr623Ala) rs757888891 0.00001
NM_170707.4(LMNA):c.1871G>A (p.Arg624His) rs13768 0.00001
NM_170707.4(LMNA):c.187A>C (p.Ile63Leu) rs899373360 0.00001
NM_170707.4(LMNA):c.1880G>A (p.Arg627His) rs745997478 0.00001
NM_170707.4(LMNA):c.1891G>A (p.Gly631Ser) rs951584348 0.00001
NM_170707.4(LMNA):c.23G>A (p.Arg8His) rs1329278578 0.00001
NM_170707.4(LMNA):c.293A>G (p.Glu98Gly) rs1441670218 0.00001
NM_170707.4(LMNA):c.466C>T (p.Arg156Cys) rs760743233 0.00001
NM_170707.4(LMNA):c.496C>T (p.Arg166Trp) rs370200334 0.00001
NM_170707.4(LMNA):c.565C>T (p.Arg189Trp) rs267607626 0.00001
NM_170707.4(LMNA):c.65C>T (p.Ser22Leu) rs1016767319 0.00001
NM_170707.4(LMNA):c.71C>T (p.Thr24Ile) rs1195524446 0.00001
NM_170707.4(LMNA):c.749C>T (p.Ala250Val) rs397517907 0.00001
NM_170707.4(LMNA):c.845G>A (p.Ser282Asn) rs1553265438 0.00001
NM_182476.3(COQ6):c.157G>A (p.Ala53Thr) rs879576557 0.00001
NM_198252.3(GSN):c.1441C>A (p.Pro481Thr) rs1468193571 0.00001
NM_198252.3(GSN):c.1506C>T (p.Arg502=) rs199681748 0.00001
NM_198252.3(GSN):c.1507G>A (p.Glu503Lys) rs998869731 0.00001
NM_198252.3(GSN):c.1651G>A (p.Ala551Thr) rs777955781 0.00001
NM_198252.3(GSN):c.1690A>G (p.Lys564Glu) rs368207411 0.00001
NM_198252.3(GSN):c.1762G>T (p.Asp588Tyr) rs757684181 0.00001
NM_198252.3(GSN):c.1880G>A (p.Arg627His) rs896776181 0.00001
NM_198252.3(GSN):c.2041G>A (p.Glu681Lys) rs545428148 0.00001
NM_198252.3(GSN):c.322G>A (p.Gly108Ser) rs367933536 0.00001
NM_198252.3(GSN):c.513C>T (p.Asn171=) rs765499763 0.00001
NM_198252.3(GSN):c.616C>T (p.Arg206Ter) rs376060588 0.00001
NM_198252.3(GSN):c.692C>T (p.Ala231Val) rs754268709 0.00001
NM_198252.3(GSN):c.776T>C (p.Met259Thr) rs770943559 0.00001
NM_198252.3(GSN):c.781G>A (p.Val261Ile) rs745588757 0.00001
NM_198252.3(GSN):c.811G>A (p.Ala271Thr) rs761334580 0.00001
NM_198252.3(GSN):c.989C>T (p.Pro330Leu) rs1157815026 0.00001
NM_213655.5(WNK1):c.2245T>C (p.Cys749Arg) rs370768693 0.00001
NM_213655.5(WNK1):c.2291T>C (p.Phe764Ser) rs1218729720 0.00001
NM_213655.5(WNK1):c.2354A>C (p.Lys785Thr) rs1190765461 0.00001
NM_213655.5(WNK1):c.2408C>T (p.Ala803Val) rs774021513 0.00001
NM_213655.5(WNK1):c.2464A>G (p.Ile822Val) rs751787202 0.00001
NM_213655.5(WNK1):c.2768C>T (p.Pro923Leu) rs920832006 0.00001
NM_213655.5(WNK1):c.2890A>G (p.Met964Val) rs377113516 0.00001
NM_213655.5(WNK1):c.3293G>A (p.Gly1098Asp) rs376606314 0.00001
NM_213655.5(WNK1):c.3415T>C (p.Ser1139Pro) rs748557001 0.00001
NM_000039.3(APOA1):c.-21+22G>A
NM_000039.3(APOA1):c.132T>A (p.Asp44Glu)
NM_000039.3(APOA1):c.149G>T (p.Gly50Val)
NM_000039.3(APOA1):c.154G>A (p.Asp52Asn)
NM_000039.3(APOA1):c.20C>A (p.Thr7Asn)
NM_000039.3(APOA1):c.368C>T (p.Pro123Leu)
NM_000039.3(APOA1):c.388AAG[1] (p.Lys131del) rs532489785
NM_000039.3(APOA1):c.389A>G (p.Lys130Arg)
NM_000039.3(APOA1):c.423G>C (p.Gln141His)
NM_000039.3(APOA1):c.42G>A (p.Thr14=)
NM_000039.3(APOA1):c.44-12T>G
NM_000039.3(APOA1):c.44-5C>G
NM_000039.3(APOA1):c.508G>A (p.Glu170Lys)
NM_000039.3(APOA1):c.512A>T (p.Glu171Val)
NM_000039.3(APOA1):c.527C>G (p.Ala176Gly)
NM_000039.3(APOA1):c.537T>G (p.His179Gln)
NM_000039.3(APOA1):c.558T>A (p.His186Gln)
NM_000039.3(APOA1):c.563C>T (p.Ala188Val)
NM_000039.3(APOA1):c.569A>T (p.Tyr190Phe)
NM_000039.3(APOA1):c.576C>A (p.Asp192Glu)
NM_000039.3(APOA1):c.658G>C (p.Ala220Pro)
NM_000039.3(APOA1):c.664G>A (p.Glu222Lys) rs121912717
NM_000039.3(APOA1):c.752T>A (p.Val251Asp) rs760566805
NM_000039.3(APOA1):c.775G>T (p.Glu259Ter)
NM_000039.3(APOA1):c.781A>G (p.Thr261Ala)
NM_000039.3(APOA1):c.789G>T (p.Lys263Asn)
NM_000039.3(APOA1):c.794_796dup (p.Asn265_Thr266insAsn) rs747014491
NM_000039.3(APOA1):c.87G>C (p.Gln29His)
NM_000039.3(APOA1):c.88A>G (p.Ser30Gly)
NM_000052.7(ATP7A):c.3731A>C (p.Lys1244Thr)
NM_000081.4(LYST):c.10468G>A (p.Gly3490Arg)
NM_000081.4(LYST):c.10525C>T (p.Arg3509Trp)
NM_000081.4(LYST):c.10685G>T (p.Ser3562Ile)
NM_000081.4(LYST):c.109A>G (p.Thr37Ala)
NM_000081.4(LYST):c.1259C>T (p.Ala420Val)
NM_000081.4(LYST):c.1676G>A (p.Arg559His)
NM_000081.4(LYST):c.2029A>G (p.Ile677Val)
NM_000081.4(LYST):c.2192A>G (p.Tyr731Cys)
NM_000081.4(LYST):c.2258G>A (p.Ser753Asn)
NM_000081.4(LYST):c.2325G>C (p.Gln775His)
NM_000081.4(LYST):c.2460T>G (p.Phe820Leu)
NM_000081.4(LYST):c.2480T>A (p.Leu827Gln)
NM_000081.4(LYST):c.3014A>G (p.His1005Arg)
NM_000081.4(LYST):c.3134G>A (p.Ser1045Asn)
NM_000081.4(LYST):c.4265C>T (p.Ala1422Val)
NM_000081.4(LYST):c.4376C>T (p.Pro1459Leu)
NM_000081.4(LYST):c.5135T>C (p.Ile1712Thr)
NM_000081.4(LYST):c.5325C>A (p.Phe1775Leu)
NM_000081.4(LYST):c.5365C>A (p.His1789Asn)
NM_000081.4(LYST):c.5598C>G (p.Ile1866Met)
NM_000081.4(LYST):c.5971T>C (p.Ser1991Pro)
NM_000081.4(LYST):c.6454A>C (p.Ser2152Arg)
NM_000081.4(LYST):c.6476G>A (p.Gly2159Asp)
NM_000081.4(LYST):c.6673C>A (p.Arg2225Ser)
NM_000081.4(LYST):c.6794TTG[1] (p.Val2266del)
NM_000081.4(LYST):c.7310C>G (p.Ser2437Cys)
NM_000081.4(LYST):c.7994A>G (p.Asp2665Gly)
NM_000081.4(LYST):c.8426A>G (p.Glu2809Gly)
NM_000081.4(LYST):c.8510C>T (p.Ala2837Val)
NM_000081.4(LYST):c.8980G>A (p.Glu2994Lys)
NM_000081.4(LYST):c.901A>G (p.Ser301Gly)
NM_000081.4(LYST):c.9332A>G (p.Tyr3111Cys)
NM_000081.4(LYST):c.9388G>A (p.Ala3130Thr)
NM_000081.4(LYST):c.9410C>A (p.Thr3137Asn)
NM_000081.4(LYST):c.955C>G (p.Pro319Ala)
NM_000081.4(LYST):c.9647G>A (p.Arg3216His)
NM_000095.3(COMP):c.1848G>C (p.Gln616His)
NM_000108.5(DLD):c.1528T>C (p.Ter510Arg) rs1554400769
NM_000143.4(FH):c.133G>T (p.Ala45Ser) rs1260007300
NM_000143.4(FH):c.1508C>G (p.Pro503Arg) rs1659661748
NM_000143.4(FH):c.194A>T (p.Asp65Val) rs145116688
NM_000143.4(FH):c.251T>C (p.Val84Ala) rs878853692
NM_000143.4(FH):c.254C>G (p.Thr85Arg) rs1324632356
NM_000143.4(FH):c.354T>G (p.Asn118Lys) rs1465574376
NM_000143.4(FH):c.378+11A>G
NM_000143.4(FH):c.37C>G (p.Pro13Ala) rs587778360
NM_000143.4(FH):c.382G>A (p.Ala128Thr) rs1553341620
NM_000143.4(FH):c.47G>A (p.Arg16Gln)
NM_000143.4(FH):c.526C>T (p.His176Tyr)
NM_000143.4(FH):c.578C>T (p.Thr193Ile) rs1573883332
NM_000143.4(FH):c.593C>G (p.Ala198Gly) rs1414507017
NM_000143.4(FH):c.648T>G (p.Asp216Glu) rs199536615
NM_000143.4(FH):c.707C>T (p.Thr236Ile) rs773382103
NM_000143.4(FH):c.800C>G (p.Pro267Arg)
NM_000143.4(FH):c.907T>G (p.Leu303Val) rs1057523697
NM_000143.4(FH):c.958G>T (p.Ala320Ser) rs766441385
NM_000153.4(GALC):c.1114G>A (p.Ala372Thr) rs759286485
NM_000153.4(GALC):c.1114G>T (p.Ala372Ser) rs759286485
NM_000153.4(GALC):c.1577A>G (p.His526Arg) rs2139951434
NM_000153.4(GALC):c.442+4A>G rs753169234
NM_000153.4(GALC):c.581G>C (p.Gly194Ala) rs963756824
NM_000158.4(GBE1):c.1484T>C (p.Met495Thr) rs1456579860
NM_000158.4(GBE1):c.1570C>G (p.Arg524Gly) rs137852888
NM_000158.4(GBE1):c.2027A>G (p.His676Arg)
NM_000182.5(HADHA):c.1969G>T (p.Ala657Ser) rs374174659
NM_000182.5(HADHA):c.217T>C (p.Ser73Pro)
NM_000182.5(HADHA):c.2273_2276dup (p.Lys760fs) rs1553311633
NM_000182.5(HADHA):c.242C>T (p.Ala81Val)
NM_000214.3(JAG1):c.-75A>G rs1208905634
NM_000214.3(JAG1):c.1049G>A (p.Ser350Asn)
NM_000214.3(JAG1):c.1078T>C (p.Cys360Arg)
NM_000214.3(JAG1):c.1105C>T (p.Pro369Ser)
NM_000214.3(JAG1):c.1205C>G (p.Pro402Arg) rs144204614
NM_000214.3(JAG1):c.1241A>G (p.Asn414Ser)
NM_000214.3(JAG1):c.1336A>G (p.Asn446Asp)
NM_000214.3(JAG1):c.1349-9_1349-6del rs764798214
NM_000214.3(JAG1):c.1377G>T (p.Gln459His)
NM_000214.3(JAG1):c.1393C>T (p.Arg465Trp) rs937263997
NM_000214.3(JAG1):c.1433G>C (p.Gly478Ala)
NM_000214.3(JAG1):c.1462A>G (p.Ile488Val)
NM_000214.3(JAG1):c.1465G>A (p.Asp489Asn) rs370107709
NM_000214.3(JAG1):c.1499G>T (p.Gly500Val)
NM_000214.3(JAG1):c.1570-14C>T
NM_000214.3(JAG1):c.1589A>G (p.Glu530Gly)
NM_000214.3(JAG1):c.1638C>A (p.Asp546Glu)
NM_000214.3(JAG1):c.1657G>A (p.Glu553Lys)
NM_000214.3(JAG1):c.167G>A (p.Gly56Asp)
NM_000214.3(JAG1):c.1773G>A (p.Val591=)
NM_000214.3(JAG1):c.1794C>G (p.Val598=) rs200580391
NM_000214.3(JAG1):c.1822C>G (p.Gln608Glu)
NM_000214.3(JAG1):c.1832G>T (p.Gly611Val) rs2122606183
NM_000214.3(JAG1):c.1885+20G>T
NM_000214.3(JAG1):c.2050G>A (p.Asp684Asn) rs933125751
NM_000214.3(JAG1):c.2069_2071del (p.Tyr690del)
NM_000214.3(JAG1):c.2173G>A (p.Asp725Asn)
NM_000214.3(JAG1):c.2225T>C (p.Ile742Thr)
NM_000214.3(JAG1):c.2270G>A (p.Gly757Asp)
NM_000214.3(JAG1):c.2275T>A (p.Cys759Ser)
NM_000214.3(JAG1):c.2312A>C (p.Lys771Thr) rs149949294
NM_000214.3(JAG1):c.2344A>G (p.Asn782Asp)
NM_000214.3(JAG1):c.2414G>C (p.Arg805Pro)
NM_000214.3(JAG1):c.2419G>C (p.Glu807Gln)
NM_000214.3(JAG1):c.2461A>G (p.Ile821Val)
NM_000214.3(JAG1):c.2489C>T (p.Ala830Val)
NM_000214.3(JAG1):c.2715C>T (p.His905=) rs2122596864
NM_000214.3(JAG1):c.2758A>T (p.Ile920Phe) rs1252730791
NM_000214.3(JAG1):c.2884A>G (p.Thr962Ala)
NM_000214.3(JAG1):c.3007G>A (p.Glu1003Lys) rs781509375
NM_000214.3(JAG1):c.3007G>C (p.Glu1003Gln) rs781509375
NM_000214.3(JAG1):c.3048+7A>G
NM_000214.3(JAG1):c.3109G>C (p.Asp1037His)
NM_000214.3(JAG1):c.3112C>A (p.Leu1038Ile)
NM_000214.3(JAG1):c.3127G>A (p.Asp1043Asn) rs1278689263
NM_000214.3(JAG1):c.314A>G (p.Asn105Ser) rs1568806951
NM_000214.3(JAG1):c.3164T>A (p.Val1055Glu)
NM_000214.3(JAG1):c.3169G>A (p.Val1057Ile)
NM_000214.3(JAG1):c.322A>C (p.Asn108His) rs1242473299
NM_000214.3(JAG1):c.323A>T (p.Asn108Ile) rs2067505956
NM_000214.3(JAG1):c.3265T>C (p.Phe1089Leu)
NM_000214.3(JAG1):c.3287_3295del (p.Arg1096_Lys1098del) rs771530161
NM_000214.3(JAG1):c.3313T>A (p.Ser1105Thr)
NM_000214.3(JAG1):c.331G>A (p.Ala111Thr) rs763966262
NM_000214.3(JAG1):c.3329A>G (p.Asn1110Ser) rs150811951
NM_000214.3(JAG1):c.3472G>A (p.Glu1158Lys)
NM_000214.3(JAG1):c.349C>G (p.Arg117Gly) rs752608779
NM_000214.3(JAG1):c.3505C>G (p.Arg1169Gly) rs368162343
NM_000214.3(JAG1):c.3577C>T (p.His1193Tyr)
NM_000214.3(JAG1):c.3588G>C (p.Trp1196Cys)
NM_000214.3(JAG1):c.3637C>T (p.Arg1213Ter) rs769276255
NM_000214.3(JAG1):c.425G>A (p.Ser142Asn) rs1436395839
NM_000214.3(JAG1):c.433A>T (p.Thr145Ser)
NM_000214.3(JAG1):c.493C>G (p.Arg165Gly) rs749293754
NM_000214.3(JAG1):c.506C>T (p.Thr169Met)
NM_000214.3(JAG1):c.52C>A (p.Leu18Ile)
NM_000214.3(JAG1):c.52C>T (p.Leu18Phe)
NM_000214.3(JAG1):c.542A>G (p.Tyr181Cys)
NM_000214.3(JAG1):c.56C>T (p.Ala19Val) rs886043988
NM_000214.3(JAG1):c.617T>A (p.Phe206Tyr)
NM_000214.3(JAG1):c.724C>T (p.His242Tyr)
NM_000214.3(JAG1):c.775G>A (p.Gly259Ser)
NM_000214.3(JAG1):c.77C>T (p.Ala26Val)
NM_000214.3(JAG1):c.86G>C (p.Cys29Ser) rs1434161643
NM_000214.3(JAG1):c.925G>A (p.Gly309Arg)
NM_000214.3(JAG1):c.968C>G (p.Ser323Cys)
NM_000214.3(JAG1):c.96G>C (p.Ser32=)
NM_000217.3(KCNA1):c.1166G>T (p.Gly389Val)
NM_000217.3(KCNA1):c.1333A>G (p.Ser445Gly) rs768749436
NM_000217.3(KCNA1):c.1378G>T (p.Asp460Tyr) rs754731331
NM_000217.3(KCNA1):c.1405A>G (p.Arg469Gly)
NM_000217.3(KCNA1):c.1406G>A (p.Arg469Lys)
NM_000217.3(KCNA1):c.1430A>G (p.Asn477Ser) rs1222837086
NM_000217.3(KCNA1):c.1433G>A (p.Cys478Tyr)
NM_000217.3(KCNA1):c.1466G>A (p.Ser489Asn) rs1131691765
NM_000217.3(KCNA1):c.192C>T (p.Gly64=)
NM_000217.3(KCNA1):c.235G>C (p.Glu79Gln)
NM_000217.3(KCNA1):c.24C>G (p.Asn8Lys) rs1477627699
NM_000217.3(KCNA1):c.317T>C (p.Val106Ala) rs886049510
NM_000217.3(KCNA1):c.352A>G (p.Lys118Glu)
NM_000217.3(KCNA1):c.421G>A (p.Glu141Lys) rs934102011
NM_000217.3(KCNA1):c.424C>A (p.Arg142Ser) rs1947353456
NM_000217.3(KCNA1):c.48G>C (p.Pro16=)
NM_000217.3(KCNA1):c.514G>C (p.Val172Leu)
NM_000217.3(KCNA1):c.599G>C (p.Gly200Ala) rs1411072418
NM_000217.3(KCNA1):c.610C>G (p.Arg204Gly)
NM_000217.3(KCNA1):c.633C>T (p.Ile211=)
NM_000217.3(KCNA1):c.74C>T (p.Pro25Leu)
NM_000217.3(KCNA1):c.865G>A (p.Ala289Thr)
NM_000239.3(LYZ):c.107A>G (p.Asp36Gly)
NM_000239.3(LYZ):c.10C>T (p.Leu4Phe)
NM_000239.3(LYZ):c.156G>T (p.Trp52Cys)
NM_000239.3(LYZ):c.176G>A (p.Arg59Gln)
NM_000239.3(LYZ):c.228G>A (p.Gln76=)
NM_000239.3(LYZ):c.230T>C (p.Ile77Thr)
NM_000239.3(LYZ):c.238C>T (p.Arg80Cys)
NM_000239.3(LYZ):c.281C>G (p.Ala94Gly)
NM_000239.3(LYZ):c.302-7_302-5dup
NM_000239.3(LYZ):c.322G>A (p.Ala108Thr)
NM_000239.3(LYZ):c.381-1G>A
NM_000239.3(LYZ):c.381-2A>T
NM_000239.3(LYZ):c.416T>C (p.Val139Ala)
NM_000239.3(LYZ):c.442G>A (p.Val148Met)
NM_000239.3(LYZ):c.44_45delinsTT (p.Thr15Ile)
NM_000239.3(LYZ):c.5A>G (p.Lys2Arg)
NM_000263.4(NAGLU):c.1304A>G (p.Asn435Ser) rs764815033
NM_000263.4(NAGLU):c.2027G>T (p.Arg676Leu) rs1341421909
NM_000274.4(OAT):c.1118G>A (p.Gly373Glu) rs386833595
NM_000274.4(OAT):c.614A>G (p.Asp205Gly) rs375157197
NM_000286.3(PEX12):c.-26G>A rs727504080
NM_000287.4(PEX6):c.1301C>T (p.Ser434Phe)
NM_000287.4(PEX6):c.1774G>A (p.Glu592Lys) rs375288192
NM_000288.4(PEX7):c.633+2TA[3]
NM_000288.4(PEX7):c.904-1G>A rs1413838301
NM_000318.3(PEX2):c.550_551inv (p.Cys184His)
NM_000371.4(TTR):c.11_13del (p.His4del) rs747545126
NM_000371.4(TTR):c.11_13dup (p.His4dup) rs747545126
NM_000371.4(TTR):c.235A>G (p.Thr79Ala)
NM_000371.4(TTR):c.37G>A (p.Gly13Arg) rs767889884
NM_000371.4(TTR):c.83C>T (p.Ser28Phe) rs1313375879
NM_000371.4(TTR):c.88T>G (p.Cys30Gly)
NM_000399.5(EGR2):c.770G>A (p.Arg257Gln) rs780441708
NM_000466.3(PEX1):c.1138A>C (p.Lys380Gln)
NM_000466.3(PEX1):c.1175A>G (p.Glu392Gly) rs1792836885
NM_000466.3(PEX1):c.1901-14T>C rs1792111444
NM_000487.6(ARSA):c.1493G>T (p.Arg498Leu) rs6151428
NM_000487.6(ARSA):c.296G>C (p.Arg99Pro) rs759295985
NM_000520.6(HEXA):c.1087G>A (p.Val363Ile) rs557550173
NM_000520.6(HEXA):c.238C>A (p.Arg80Ser) rs1240272655
NM_000543.5(SMPD1):c.1022G>A (p.Arg341His) rs200242334
NM_000543.5(SMPD1):c.823G>T (p.Val275Leu) rs1172255199
NM_000543.5(SMPD1):c.872G>A (p.Arg291His) rs1803161
NM_000543.5(SMPD1):c.995C>T (p.Pro332Leu) rs202081954
NM_000701.8(ATP1A1):c.12+3G>T
NM_000784.4(CYP27A1):c.110C>T (p.Ser37Leu) rs1559384559
NM_000784.4(CYP27A1):c.1209C>G (p.Asn403Lys) rs587778781
NM_000784.4(CYP27A1):c.1263+10del rs765426068
NM_000784.4(CYP27A1):c.1514C>A (p.Thr505Lys) rs76822427
NM_000784.4(CYP27A1):c.275A>G (p.Tyr92Cys)
NM_000784.4(CYP27A1):c.491G>C (p.Arg164Pro) rs148417330
NM_000784.4(CYP27A1):c.556A>G (p.Met186Val)
NM_001003800.2(BICD2):c.871G>A (p.Glu291Lys) rs1271142551
NM_001003800.2(BICD2):c.902A>G (p.Asn301Ser) rs2131502289
NM_001005361.3(DNM2):c.1799T>C (p.Leu600Pro)
NM_001005361.3(DNM2):c.695T>C (p.Ile232Thr) rs749672066
NM_001005373.4(LRSAM1):c.2036T>C (p.Leu679Pro) rs1564286814
NM_001034850.3(RETREG1):c.803G>C (p.Arg268Thr) rs370636928
NM_001113491.2(SEPTIN9):c.353_354delinsCC (p.Gln118Pro) rs1555659856
NM_001122955.4(BSCL2):c.-1_1inv (p.Met1Leu)
NM_001122955.4(BSCL2):c.1005+3C>T rs372166360
NM_001122955.4(BSCL2):c.1097C>G (p.Thr366Ser) rs1424325463
NM_001122955.4(BSCL2):c.1108G>C (p.Asp370His)
NM_001122955.4(BSCL2):c.1180C>A (p.Pro394Thr)
NM_001122955.4(BSCL2):c.1192C>G (p.Pro398Ala)
NM_001122955.4(BSCL2):c.1214T>A (p.Leu405Gln)
NM_001122955.4(BSCL2):c.1244C>T (p.Ser415Phe) rs1590868109
NM_001122955.4(BSCL2):c.1271del (p.Glu424fs)
NM_001122955.4(BSCL2):c.1299TTCTGC[1] (p.434SA[1]) rs747175358
NM_001122955.4(BSCL2):c.1299TTCTGC[3] (p.434SA[3]) rs747175358
NM_001122955.4(BSCL2):c.1300T>C (p.Ser434Pro) rs199584887
NM_001122955.4(BSCL2):c.1300T>G (p.Ser434Ala) rs199584887
NM_001122955.4(BSCL2):c.1325C>T (p.Thr442Ile) rs876661160
NM_001122955.4(BSCL2):c.1345G>C (p.Ala449Pro)
NM_001122955.4(BSCL2):c.1385C>A (p.Ser462Tyr) rs1945271930
NM_001122955.4(BSCL2):c.224T>C (p.Leu75Pro)
NM_001122955.4(BSCL2):c.260G>A (p.Arg87His)
NM_001122955.4(BSCL2):c.270_271delinsTT (p.Arg90Ser)
NM_001122955.4(BSCL2):c.329T>G (p.Val110Gly)
NM_001122955.4(BSCL2):c.350A>G (p.Tyr117Cys)
NM_001122955.4(BSCL2):c.356C>G (p.Ser119Cys)
NM_001122955.4(BSCL2):c.367A>T (p.Thr123Ser) rs1349958377
NM_001122955.4(BSCL2):c.478C>T (p.Arg160Cys) rs772536764
NM_001122955.4(BSCL2):c.479G>A (p.Arg160His)
NM_001122955.4(BSCL2):c.500G>A (p.Gly167Glu)
NM_001122955.4(BSCL2):c.617C>T (p.Thr206Ile)
NM_001122955.4(BSCL2):c.630G>A (p.Ser210=) rs150158560
NM_001122955.4(BSCL2):c.646C>T (p.Arg216Cys)
NM_001122955.4(BSCL2):c.779C>G (p.Thr260Ser)
NM_001122955.4(BSCL2):c.806A>G (p.Lys269Arg) rs781217574
NM_001122955.4(BSCL2):c.829T>C (p.Tyr277His)
NM_001122955.4(BSCL2):c.836G>A (p.Arg279His)
NM_001122955.4(BSCL2):c.843C>G (p.His281Gln)
NM_001122955.4(BSCL2):c.856G>A (p.Gly286Arg)
NM_001122955.4(BSCL2):c.863+5G>A rs786205072
NM_001122955.4(BSCL2):c.864A>G (p.Arg288=)
NM_001122955.4(BSCL2):c.894C>T (p.Cys298=)
NM_001122955.4(BSCL2):c.921C>A (p.Phe307Leu)
NM_001122955.4(BSCL2):c.968G>T (p.Trp323Leu) rs367783346
NM_001122955.4(BSCL2):c.974G>T (p.Gly325Val)
NM_001130438.3(SPTAN1):c.2158C>G (p.His720Asp)
NM_001130823.3(DNMT1):c.382C>T (p.Pro128Ser) rs146601335
NM_001130823.3(DNMT1):c.859C>G (p.Gln287Glu) rs2145340495
NM_001130823.3(DNMT1):c.910A>C (p.Ser304Arg) rs1599376406
NM_001244008.2(KIF1A):c.3609C>A (p.His1203Gln) rs1195379895
NM_001358921.2(COQ2):c.-21C>A
NM_001358921.2(COQ2):c.-23C>T
NM_001358921.2(COQ2):c.-26G>C
NM_001358921.2(COQ2):c.-2C>G rs573669024
NM_001358921.2(COQ2):c.-30del rs1418018696
NM_001358921.2(COQ2):c.-33T>C
NM_001358921.2(COQ2):c.-8C>G
NM_001358921.2(COQ2):c.1067AGA[1] (p.Lys357del) rs765403087
NM_001358921.2(COQ2):c.1093A>G (p.Ile365Val)
NM_001358921.2(COQ2):c.1093A>T (p.Ile365Leu)
NM_001358921.2(COQ2):c.112C>T (p.Pro38Ser)
NM_001358921.2(COQ2):c.148G>A (p.Glu50Lys)
NM_001358921.2(COQ2):c.14G>T (p.Arg5Leu)
NM_001358921.2(COQ2):c.161G>C (p.Arg54Pro)
NM_001358921.2(COQ2):c.181G>A (p.Ala61Thr)
NM_001358921.2(COQ2):c.190G>C (p.Val64Leu)
NM_001358921.2(COQ2):c.218C>T (p.Pro73Leu)
NM_001358921.2(COQ2):c.227G>A (p.Arg76His) rs863223935
NM_001358921.2(COQ2):c.274C>G (p.Pro92Ala)
NM_001358921.2(COQ2):c.277T>C (p.Cys93Arg)
NM_001358921.2(COQ2):c.290T>C (p.Ile97Thr)
NM_001358921.2(COQ2):c.349A>T (p.Thr117Ser)
NM_001358921.2(COQ2):c.494G>A (p.Gly165Glu)
NM_001358921.2(COQ2):c.4C>A (p.Leu2Met)
NM_001358921.2(COQ2):c.542+5A>G
NM_001358921.2(COQ2):c.629-7A>G
NM_001358921.2(COQ2):c.650C>T (p.Ala217Val)
NM_001358921.2(COQ2):c.750T>G (p.Ile250Met)
NM_001358921.2(COQ2):c.799A>G (p.Thr267Ala)
NM_001358921.2(COQ2):c.80G>A (p.Arg27His)
NM_001358921.2(COQ2):c.814G>A (p.Gly272Arg)
NM_001358921.2(COQ2):c.829C>T (p.Pro277Ser)
NM_001358921.2(COQ2):c.838A>C (p.Ser280Arg)
NM_001358921.2(COQ2):c.841G>A (p.Gly281Ser)
NM_001358921.2(COQ2):c.842G>T (p.Gly281Val)
NM_001358921.2(COQ2):c.856A>G (p.Met286Val)
NM_001358921.2(COQ2):c.884T>G (p.Val295Gly)
NM_001358921.2(COQ2):c.925G>A (p.Ala309Thr)
NM_001358921.2(COQ2):c.954T>G (p.Ile318Met)
NM_001365088.1(SLC12A6):c.703G>C (p.Ala235Pro)
NM_001365536.1(SCN9A):c.3332A>C (p.Asp1111Ala) rs753287730
NM_001365536.1(SCN9A):c.37G>A (p.Val13Ile) rs779738791
NM_001365536.1(SCN9A):c.4368C>G (p.Ile1456Met) rs1362318488
NM_001365536.1(SCN9A):c.5820C>G (p.Asn1940Lys) rs371454107
NM_001365951.3(KIF1B):c.1177G>T (p.Asp393Tyr)
NM_001365951.3(KIF1B):c.1300G>A (p.Ala434Thr)
NM_001365951.3(KIF1B):c.1565_1566insGTT (p.Thr522_Leu523insPhe)
NM_001365951.3(KIF1B):c.1770C>G (p.Ser590Arg) rs139764209
NM_001365951.3(KIF1B):c.1819G>A (p.Val607Ile)
NM_001365951.3(KIF1B):c.184-6T>G
NM_001365951.3(KIF1B):c.2115+5956T>G
NM_001365951.3(KIF1B):c.2115+6053G>A
NM_001365951.3(KIF1B):c.2115+6103C>T
NM_001365951.3(KIF1B):c.2115+6124T>C
NM_001365951.3(KIF1B):c.2115+6181G>A
NM_001365951.3(KIF1B):c.2115+6427T>G
NM_001365951.3(KIF1B):c.2115+6944A>T
NM_001365951.3(KIF1B):c.2115+6945_2115+6947del
NM_001365951.3(KIF1B):c.2115+7171G>T
NM_001365951.3(KIF1B):c.2115+7229G>A
NM_001365951.3(KIF1B):c.2115+7343G>A
NM_001365951.3(KIF1B):c.2235G>C (p.Glu745Asp)
NM_001365951.3(KIF1B):c.2389A>G (p.Thr797Ala)
NM_001365951.3(KIF1B):c.2501A>G (p.Asn834Ser)
NM_001365951.3(KIF1B):c.2665C>A (p.Leu889Ile)
NM_001365951.3(KIF1B):c.2839G>A (p.Ala947Thr)
NM_001365951.3(KIF1B):c.3157C>T (p.Arg1053Cys)
NM_001365951.3(KIF1B):c.3227C>T (p.Pro1076Leu)
NM_001365951.3(KIF1B):c.3541G>A (p.Val1181Met)
NM_001365951.3(KIF1B):c.3798-3T>C
NM_001365951.3(KIF1B):c.3886G>C (p.Val1296Leu)
NM_001365951.3(KIF1B):c.4056G>A (p.Arg1352=)
NM_001365951.3(KIF1B):c.418T>A (p.Tyr140Asn)
NM_001365951.3(KIF1B):c.4366+4A>T
NM_001365951.3(KIF1B):c.4417C>T (p.Arg1473Trp)
NM_001365951.3(KIF1B):c.4718G>A (p.Ser1573Asn)
NM_001365951.3(KIF1B):c.4819T>C (p.Cys1607Arg)
NM_001365951.3(KIF1B):c.4948A>C (p.Thr1650Pro)
NM_001365951.3(KIF1B):c.5047A>G (p.Lys1683Glu)
NM_001365951.3(KIF1B):c.5173G>A (p.Val1725Ile)
NM_001365951.3(KIF1B):c.5208C>A (p.Asp1736Glu) rs749483779
NM_001365951.3(KIF1B):c.526C>A (p.Pro176Thr)
NM_001365951.3(KIF1B):c.694A>G (p.Asn232Asp)
NM_001370658.1(BTD):c.1163T>C (p.Val388Ala) rs1553654038
NM_001376.5(DYNC1H1):c.10354G>A (p.Ala3452Thr) rs1555411400
NM_001376.5(DYNC1H1):c.1085C>T (p.Thr362Ile) rs1818621543
NM_001376.5(DYNC1H1):c.11543G>A (p.Gly3848Asp) rs754712755
NM_001376.5(DYNC1H1):c.1192A>G (p.Thr398Ala) rs1314946037
NM_001376.5(DYNC1H1):c.13470G>C (p.Gln4490His)
NM_001376.5(DYNC1H1):c.3803C>T (p.Thr1268Met) rs751865408
NM_001376.5(DYNC1H1):c.5165C>T (p.Thr1722Met) rs1555409563
NM_001376.5(DYNC1H1):c.5347A>G (p.Ser1783Gly) rs773630385
NM_001376.5(DYNC1H1):c.5347A>T (p.Ser1783Cys)
NM_001376.5(DYNC1H1):c.83C>G (p.Ser28Trp) rs765882472
NM_001376.5(DYNC1H1):c.8576C>T (p.Pro2859Leu)
NM_001376.5(DYNC1H1):c.9607G>A (p.Val3203Met) rs1567017825
NM_001376.5(DYNC1H1):c.9642+4C>T rs773101138
NM_001376.5(DYNC1H1):c.99C>G (p.His33Gln)
NM_001377137.1(GBF1):c.2732_2733del (p.Pro911fs) rs2060017974
NM_001386140.1(MTTP):c.1385A>T (p.Glu462Val) rs757598679
NM_001540.5(HSPB1):c.610G>A (p.Ala204Thr) rs367857772
NM_001953.5(TYMP):c.178G>A (p.Ala60Thr) rs1258773019
NM_002047.4(GARS1):c.1186G>A (p.Val396Ile) rs1060502836
NM_002180.3(IGHMBP2):c.1444G>A (p.Glu482Lys)
NM_002180.3(IGHMBP2):c.181G>A (p.Gly61Arg) rs1057518943
NM_002224.4(ITPR3):c.5903A>T (p.Asp1968Val)
NM_002529.4(NTRK1):c.1039C>T (p.Arg347Cys) rs561243137
NM_002617.4(PEX10):c.740A>G (p.Lys247Arg) rs1553231833
NM_002618.4(PEX13):c.89T>C (p.Phe30Ser) rs771610641
NM_002693.3(POLG):c.1276G>A (p.Gly426Ser) rs775576189
NM_002693.3(POLG):c.1420C>A (p.Leu474Ile) rs1555453653
NM_002693.3(POLG):c.1433+5C>T rs924516946
NM_002693.3(POLG):c.1491G>C (p.Gln497His) rs121918052
NM_002693.3(POLG):c.1570C>G (p.Pro524Ala) rs577476988
NM_002693.3(POLG):c.2059A>G (p.Ile687Val) rs796052881
NM_002693.3(POLG):c.2074GAA[1] (p.Glu693del) rs760784347
NM_002693.3(POLG):c.2094A>C (p.Glu698Asp) rs2152063213
NM_002693.3(POLG):c.2255T>C (p.Leu752Pro) rs2055426653
NM_002693.3(POLG):c.2485C>T (p.Pro829Ser) rs906230544
NM_002693.3(POLG):c.2530G>A (p.Val844Met) rs1555452881
NM_002693.3(POLG):c.3151G>T (p.Gly1051Trp) rs121918049
NM_002693.3(POLG):c.3374T>A (p.Ile1125Lys)
NM_002693.3(POLG):c.729C>A (p.Asp243Glu) rs757917194
NM_002764.4(PRPS1):c.306+5G>T
NM_002764.4(PRPS1):c.334G>A (p.Val112Ile) rs2147682370
NM_002764.4(PRPS1):c.531-15C>A
NM_002764.4(PRPS1):c.641G>A (p.Arg214Gln) rs867288458
NM_002764.4(PRPS1):c.913A>G (p.Asn305Asp)
NM_002778.4(PSAP):c.1350+5G>T
NM_002857.4(PEX19):c.115C>T (p.Pro39Ser) rs144256391
NM_003477.3(PDHX):c.520G>A (p.Glu174Lys)
NM_003560.4(PLA2G6):c.1685A>G (p.Glu562Gly) rs751508677
NM_003560.4(PLA2G6):c.1786C>T (p.Leu596Phe) rs2087181118
NM_003680.4(YARS1):c.1571G>C (p.Gly524Ala) rs201687117
NM_004048.4(B2M):c.164T>C (p.Ile55Thr)
NM_004048.4(B2M):c.275C>T (p.Pro92Leu)
NM_004048.4(B2M):c.32C>T (p.Ala11Val)
NM_004048.4(B2M):c.37C>T (p.Leu13Phe)
NM_004048.4(B2M):c.67C>T (p.Arg23Cys)
NM_004082.5(DCTN1):c.1504C>T (p.Arg502Cys) rs145958900
NM_004082.5(DCTN1):c.3537G>C (p.Lys1179Asn) rs148146325
NM_004168.4(SDHA):c.994C>T (p.Pro332Ser) rs373509391
NM_004208.4(AIFM1):c.1586G>A (p.Arg529Gln) rs1227079178
NM_004565.3(PEX14):c.862G>A (p.Val288Ile) rs1207319506
NM_005572.4(LMNA):c.1711C>T (p.Arg571Cys) rs80338938
NM_005908.4(MANBA):c.1726T>A (p.Ser576Thr)
NM_005908.4(MANBA):c.519G>T (p.Lys173Asn)
NM_005908.4(MANBA):c.683C>T (p.Ala228Val)
NM_005957.5(MTHFR):c.1064C>T (p.Pro355Leu) rs794727869
NM_006096.4(NDRG1):c.1109C>G (p.Ala370Gly) rs367925853
NM_006096.4(NDRG1):c.1109C>T (p.Ala370Val) rs367925853
NM_006096.4(NDRG1):c.980G>A (p.Arg327His) rs565705964
NM_006158.5(NEFL):c.338_339delinsCC (p.Gln113Pro) rs1554497641
NM_006158.5(NEFL):c.793T>G (p.Tyr265Asp) rs1554497573
NM_006158.5(NEFL):c.986T>C (p.Leu329Pro) rs876661290
NM_006415.4(SPTLC1):c.472A>T (p.Thr158Ser) rs779810169
NM_006415.4(SPTLC1):c.571G>A (p.Ala191Thr)
NM_006514.4(SCN10A):c.1052G>A (p.Arg351His) rs767987787
NM_006514.4(SCN10A):c.1489C>T (p.Arg497Cys) rs370009920
NM_006514.4(SCN10A):c.158C>G (p.Pro53Arg) rs752235456
NM_006514.4(SCN10A):c.2593A>G (p.Ile865Val) rs1553617020
NM_006514.4(SCN10A):c.2677_2678del (p.Phe893fs) rs770504391
NM_006514.4(SCN10A):c.3800T>G (p.Met1267Arg) rs774337248
NM_006514.4(SCN10A):c.3910G>A (p.Ala1304Thr) rs142173735
NM_006514.4(SCN10A):c.4232A>G (p.Asn1411Ser)
NM_006514.4(SCN10A):c.4775_4776dup (p.Ile1593fs) rs1191414961
NM_006514.4(SCN10A):c.5023C>A (p.Pro1675Thr) rs758877832
NM_006514.4(SCN10A):c.860C>G (p.Thr287Ser) rs779570073
NM_006736.6(DNAJB2):c.199C>A (p.Arg67Ser) rs140172586
NM_007254.4(PNKP):c.1003G>T (p.Gly335Cys) rs768567927
NM_007254.4(PNKP):c.1316G>A (p.Arg439Gln)
NM_007254.4(PNKP):c.131G>A (p.Arg44Gln) rs1568663138
NM_007254.4(PNKP):c.1381A>G (p.Asn461Asp) rs775762473
NM_007254.4(PNKP):c.1391G>C (p.Arg464Pro) rs377619541
NM_007254.4(PNKP):c.58C>A (p.Pro20Thr) rs3739168
NM_007289.4(MME):c.187A>C (p.Ile63Leu)
NM_014317.5(PDSS1):c.1027T>C (p.Phe343Leu)
NM_014317.5(PDSS1):c.107C>A (p.Ala36Asp)
NM_014317.5(PDSS1):c.1113T>G (p.Asp371Glu)
NM_014317.5(PDSS1):c.1165A>G (p.Arg389Gly)
NM_014317.5(PDSS1):c.121C>A (p.Arg41Ser)
NM_014317.5(PDSS1):c.1235C>A (p.Thr412Lys)
NM_014317.5(PDSS1):c.129+5G>C
NM_014317.5(PDSS1):c.129+8T>G
NM_014317.5(PDSS1):c.129+9G>A
NM_014317.5(PDSS1):c.182T>G (p.Val61Gly)
NM_014317.5(PDSS1):c.19C>T (p.Arg7Trp)
NM_014317.5(PDSS1):c.218G>T (p.Arg73Leu)
NM_014317.5(PDSS1):c.228G>C (p.Arg76=)
NM_014317.5(PDSS1):c.253A>G (p.Lys85Glu)
NM_014317.5(PDSS1):c.291A>G (p.Lys97=)
NM_014317.5(PDSS1):c.294C>A (p.Leu98=)
NM_014317.5(PDSS1):c.430A>G (p.Met144Val)
NM_014317.5(PDSS1):c.437G>A (p.Arg146Gln)
NM_014317.5(PDSS1):c.464C>T (p.Ser155Phe)
NM_014317.5(PDSS1):c.482G>A (p.Ser161Asn)
NM_014317.5(PDSS1):c.503T>C (p.Ile168Thr)
NM_014317.5(PDSS1):c.520A>G (p.Thr174Ala)
NM_014317.5(PDSS1):c.582A>G (p.Thr194=)
NM_014317.5(PDSS1):c.590A>G (p.Lys197Arg) rs2132259534
NM_014317.5(PDSS1):c.631A>G (p.Ile211Val)
NM_014317.5(PDSS1):c.649A>G (p.Ile217Val)
NM_014317.5(PDSS1):c.651A>G (p.Ile217Met)
NM_014317.5(PDSS1):c.682A>G (p.Ile228Val)
NM_014317.5(PDSS1):c.718C>T (p.Arg240Cys)
NM_014317.5(PDSS1):c.719G>C (p.Arg240Pro)
NM_014317.5(PDSS1):c.724G>A (p.Glu242Lys)
NM_014317.5(PDSS1):c.79G>T (p.Gly27Cys)
NM_014317.5(PDSS1):c.832-11_832-8del
NM_014317.5(PDSS1):c.832G>A (p.Val278Ile) rs778411730
NM_014317.5(PDSS1):c.851C>T (p.Pro284Leu)
NM_014317.5(PDSS1):c.86C>G (p.Ala29Gly)
NM_014317.5(PDSS1):c.87G>A (p.Ala29=)
NM_014317.5(PDSS1):c.89G>C (p.Gly30Ala) rs17855857
NM_014317.5(PDSS1):c.916A>G (p.Ile306Val)
NM_014317.5(PDSS1):c.95T>G (p.Leu32Trp)
NM_014874.4(MFN2):c.271G>A (p.Val91Met) rs1557519001
NM_015046.7(SETX):c.4528T>G (p.Ser1510Ala)
NM_015046.7(SETX):c.6635C>G (p.Pro2212Arg)
NM_015046.7(SETX):c.80C>T (p.Ser27Phe)
NM_015506.3(MMACHC):c.107C>G (p.Pro36Arg)
NM_015506.3(MMACHC):c.146C>T (p.Ala49Val)
NM_015506.3(MMACHC):c.160A>G (p.Ser54Gly)
NM_015506.3(MMACHC):c.173T>C (p.Met58Thr)
NM_015506.3(MMACHC):c.182G>A (p.Arg61Gln) rs201777449
NM_015506.3(MMACHC):c.266G>A (p.Arg89His)
NM_015506.3(MMACHC):c.276+13_276+14del
NM_015506.3(MMACHC):c.304A>G (p.Ile102Val)
NM_015506.3(MMACHC):c.30G>C (p.Gln10His)
NM_015506.3(MMACHC):c.327_329delinsATTGCTGACTAC (p.Asn110delinsLeuLeuThrThr) rs2149323547
NM_015506.3(MMACHC):c.343A>G (p.Ile115Val)
NM_015506.3(MMACHC):c.374G>C (p.Gly125Ala)
NM_015506.3(MMACHC):c.395G>A (p.Arg132Gln) rs369335868
NM_015506.3(MMACHC):c.423G>T (p.Gly141=)
NM_015506.3(MMACHC):c.433A>G (p.Ile145Val) rs74365027
NM_015506.3(MMACHC):c.468_470del (p.Trp157del)
NM_015506.3(MMACHC):c.47T>C (p.Leu16Pro)
NM_015506.3(MMACHC):c.503G>A (p.Gly168Glu)
NM_015506.3(MMACHC):c.545G>A (p.Cys182Tyr) rs372010149
NM_015506.3(MMACHC):c.557G>A (p.Arg186Lys)
NM_015506.3(MMACHC):c.572C>T (p.Ala191Val) rs375442063
NM_015506.3(MMACHC):c.592T>C (p.Phe198Leu)
NM_015506.3(MMACHC):c.604G>T (p.Asp202Tyr)
NM_015506.3(MMACHC):c.611C>T (p.Thr204Ile)
NM_015506.3(MMACHC):c.626T>A (p.Val209Glu)
NM_015506.3(MMACHC):c.655C>G (p.Gln219Glu)
NM_015506.3(MMACHC):c.689G>A (p.Arg230Gln)
NM_015506.3(MMACHC):c.701T>C (p.Leu234Ser)
NM_015506.3(MMACHC):c.701del (p.Leu234fs) rs767339897
NM_015506.3(MMACHC):c.707T>C (p.Leu236Ser)
NM_015506.3(MMACHC):c.748C>A (p.Leu250Ile)
NM_015506.3(MMACHC):c.763C>T (p.Pro255Ser) rs533256855
NM_015506.3(MMACHC):c.764C>T (p.Pro255Leu)
NM_015506.3(MMACHC):c.766G>A (p.Ala256Thr)
NM_015506.3(MMACHC):c.78C>A (p.Phe26Leu)
NM_015506.3(MMACHC):c.790A>C (p.Ser264Arg)
NM_015506.3(MMACHC):c.791G>A (p.Ser264Asn)
NM_015506.3(MMACHC):c.799C>G (p.Arg267Gly) rs34258482
NM_015506.3(MMACHC):c.839del (p.Pro280fs) rs1553163017
NM_015506.3(MMACHC):c.845C>G (p.Pro282Arg)
NM_015506.3(MMACHC):c.848G>C (p.Ter283Ser) rs201025783
NM_015697.9(COQ2):c.30G>C (p.Arg10Ser)
NM_015697.9(COQ2):c.34G>A (p.Gly12Ser) rs981288139
NM_015697.9(COQ2):c.40G>A (p.Ala14Thr)
NM_015697.9(COQ2):c.40G>T (p.Ala14Ser)
NM_015697.9(COQ2):c.48dup (p.Ala17fs) rs767298430
NM_015697.9(COQ2):c.79C>G (p.Pro27Ala)
NM_015915.5(ATL1):c.723+3_723+19del rs1461170744
NM_016035.5(COQ4):c.137C>G (p.Pro46Arg) rs566983104
NM_018060.4(IARS2):c.34G>A (p.Ala12Thr)
NM_018319.4(TDP1):c.1317G>T (p.Leu439Phe) rs138711165
NM_018319.4(TDP1):c.544G>T (p.Ala182Ser)
NM_018979.4(WNK1):c.-2C>T
NM_018979.4(WNK1):c.1033A>G (p.Ile345Val)
NM_018979.4(WNK1):c.1269G>A (p.Ser423=) rs955095527
NM_018979.4(WNK1):c.136G>C (p.Ala46Pro)
NM_018979.4(WNK1):c.1393G>C (p.Asp465His)
NM_018979.4(WNK1):c.1476A>T (p.Glu492Asp) rs750205260
NM_018979.4(WNK1):c.1480G>A (p.Asp494Asn)
NM_018979.4(WNK1):c.1657A>T (p.Thr553Ser)
NM_018979.4(WNK1):c.1688C>T (p.Ser563Leu)
NM_018979.4(WNK1):c.1726C>T (p.Arg576Trp)
NM_018979.4(WNK1):c.1844C>A (p.Thr615Asn)
NM_018979.4(WNK1):c.1906C>A (p.Gln636Lys)
NM_018979.4(WNK1):c.1951+6T>C
NM_018979.4(WNK1):c.195C>G (p.Ser65Arg)
NM_018979.4(WNK1):c.1982_1983delinsAT (p.Ser661Tyr)
NM_018979.4(WNK1):c.1993A>G (p.Thr665Ala)
NM_018979.4(WNK1):c.2007G>A (p.Val669=)
NM_018979.4(WNK1):c.2054A>G (p.His685Arg)
NM_018979.4(WNK1):c.2065A>G (p.Thr689Ala)
NM_018979.4(WNK1):c.2087C>T (p.Ser696Phe)
NM_018979.4(WNK1):c.2153G>A (p.Ser718Asn)
NM_018979.4(WNK1):c.2176A>G (p.Ser726Gly)
NM_018979.4(WNK1):c.2216C>G (p.Pro739Arg)
NM_018979.4(WNK1):c.2223+5G>A
NM_018979.4(WNK1):c.2237A>G (p.Gln746Arg)
NM_018979.4(WNK1):c.2270A>G (p.Tyr757Cys)
NM_018979.4(WNK1):c.2303C>T (p.Ala768Val) rs757239881
NM_018979.4(WNK1):c.230A>C (p.His77Pro)
NM_018979.4(WNK1):c.2347T>G (p.Leu783Val)
NM_018979.4(WNK1):c.2398A>G (p.Thr800Ala)
NM_018979.4(WNK1):c.2452G>A (p.Val818Ile)
NM_018979.4(WNK1):c.2491C>T (p.Leu831Phe)
NM_018979.4(WNK1):c.2561C>G (p.Ala854Gly)
NM_018979.4(WNK1):c.2575_2576delinsCT (p.Ser859Leu)
NM_018979.4(WNK1):c.2639C>G (p.Ala880Gly)
NM_018979.4(WNK1):c.2648C>A (p.Ala883Asp)
NM_018979.4(WNK1):c.2657C>T (p.Pro886Leu)
NM_018979.4(WNK1):c.2678C>T (p.Pro893Leu)
NM_018979.4(WNK1):c.2687T>A (p.Leu896His)
NM_018979.4(WNK1):c.2726A>C (p.Gln909Pro)
NM_018979.4(WNK1):c.2777C>T (p.Ala926Val)
NM_018979.4(WNK1):c.2783T>C (p.Leu928Pro)
NM_018979.4(WNK1):c.2831A>G (p.Gln944Arg)
NM_018979.4(WNK1):c.2839C>A (p.Pro947Thr) rs753149891
NM_018979.4(WNK1):c.2840C>A (p.Pro947Gln)
NM_018979.4(WNK1):c.2859G>A (p.Gln953=)
NM_018979.4(WNK1):c.2938A>G (p.Met980Val)
NM_018979.4(WNK1):c.2947G>C (p.Glu983Gln) rs1185591309
NM_018979.4(WNK1):c.2975C>T (p.Pro992Leu)
NM_018979.4(WNK1):c.3026G>A (p.Gly1009Asp)
NM_018979.4(WNK1):c.3089C>T (p.Ser1030Phe)
NM_018979.4(WNK1):c.3091T>C (p.Ser1031Pro)
NM_018979.4(WNK1):c.3100G>A (p.Ala1034Thr)
NM_018979.4(WNK1):c.3111+4A>C
NM_018979.4(WNK1):c.3112-6T>G
NM_018979.4(WNK1):c.3112-9G>T
NM_018979.4(WNK1):c.3134T>G (p.Val1045Gly)
NM_018979.4(WNK1):c.313C>T (p.Pro105Ser)
NM_018979.4(WNK1):c.3199T>A (p.Ser1067Thr)
NM_018979.4(WNK1):c.3205G>C (p.Asp1069His)
NM_018979.4(WNK1):c.322C>G (p.Pro108Ala)
NM_018979.4(WNK1):c.3259C>T (p.Pro1087Ser)
NM_018979.4(WNK1):c.3326G>A (p.Arg1109His) rs750478389
NM_018979.4(WNK1):c.3372+3A>G rs1426580785
NM_018979.4(WNK1):c.3590G>T (p.Ser1197Ile) rs1592165053
NM_018979.4(WNK1):c.3621G>T (p.Glu1207Asp)
NM_018979.4(WNK1):c.3638A>G (p.Asp1213Gly)
NM_018979.4(WNK1):c.3639T>A (p.Asp1213Glu)
NM_018979.4(WNK1):c.3663+5G>A
NM_018979.4(WNK1):c.3707T>C (p.Met1236Thr)
NM_018979.4(WNK1):c.3740T>C (p.Leu1247Ser)
NM_018979.4(WNK1):c.3818T>C (p.Val1273Ala)
NM_018979.4(WNK1):c.3845-3C>T
NM_018979.4(WNK1):c.3877A>T (p.Asn1293Tyr)
NM_018979.4(WNK1):c.392C>T (p.Ser131Phe)
NM_018979.4(WNK1):c.3946A>C (p.Thr1316Pro)
NM_018979.4(WNK1):c.3985A>G (p.Thr1329Ala)
NM_018979.4(WNK1):c.3991C>T (p.Pro1331Ser) rs200513331
NM_018979.4(WNK1):c.4022G>C (p.Ser1341Thr) rs1301534353
NM_018979.4(WNK1):c.4031C>T (p.Ala1344Val)
NM_018979.4(WNK1):c.4040C>T (p.Pro1347Leu)
NM_018979.4(WNK1):c.4055C>T (p.Ala1352Val) rs1565581215
NM_018979.4(WNK1):c.4088C>G (p.Pro1363Arg) rs773207256
NM_018979.4(WNK1):c.4186G>A (p.Gly1396Ser)
NM_018979.4(WNK1):c.4196C>T (p.Pro1399Leu)
NM_018979.4(WNK1):c.4204C>T (p.Pro1402Ser)
NM_018979.4(WNK1):c.4233C>A (p.Ser1411Arg)
NM_018979.4(WNK1):c.4252A>G (p.Ile1418Val)
NM_018979.4(WNK1):c.4277C>T (p.Thr1426Ile)
NM_018979.4(WNK1):c.4329T>C (p.Ser1443=)
NM_018979.4(WNK1):c.4352_4363del (p.Val1451_Ser1454del) rs753602469
NM_018979.4(WNK1):c.4358T>C (p.Val1453Ala) rs1953537855
NM_018979.4(WNK1):c.4391C>T (p.Thr1464Ile)
NM_018979.4(WNK1):c.4400C>T (p.Pro1467Leu)
NM_018979.4(WNK1):c.4419T>G (p.Ala1473=)
NM_018979.4(WNK1):c.4534A>G (p.Ser1512Gly) rs746802809
NM_018979.4(WNK1):c.455C>T (p.Ala152Val)
NM_018979.4(WNK1):c.4562C>T (p.Thr1521Ile)
NM_018979.4(WNK1):c.4583C>T (p.Ser1528Leu)
NM_018979.4(WNK1):c.464C>A (p.Thr155Asn) rs940919645
NM_018979.4(WNK1):c.4685C>A (p.Ser1562Tyr)
NM_018979.4(WNK1):c.4693G>A (p.Gly1565Ser) rs563801917
NM_018979.4(WNK1):c.469C>G (p.Pro157Ala)
NM_018979.4(WNK1):c.469C>T (p.Pro157Ser)
NM_018979.4(WNK1):c.4714A>G (p.Ile1572Val)
NM_018979.4(WNK1):c.4719A>G (p.Pro1573=)
NM_018979.4(WNK1):c.4726A>G (p.Ile1576Val)
NM_018979.4(WNK1):c.4799T>C (p.Ile1600Thr)
NM_018979.4(WNK1):c.4841A>T (p.Gln1614Leu)
NM_018979.4(WNK1):c.4888C>A (p.Gln1630Lys)
NM_018979.4(WNK1):c.500C>G (p.Ser167Cys)
NM_018979.4(WNK1):c.5051T>G (p.Ile1684Arg) rs1298559115
NM_018979.4(WNK1):c.5065A>G (p.Thr1689Ala)
NM_018979.4(WNK1):c.5095C>T (p.Pro1699Ser)
NM_018979.4(WNK1):c.5134C>T (p.Pro1712Ser)
NM_018979.4(WNK1):c.5261C>T (p.Pro1754Leu)
NM_018979.4(WNK1):c.5263C>T (p.Pro1755Ser)
NM_018979.4(WNK1):c.5314A>C (p.Thr1772Pro) rs1183977237
NM_018979.4(WNK1):c.5353T>C (p.Ser1785Pro)
NM_018979.4(WNK1):c.535C>T (p.Pro179Ser)
NM_018979.4(WNK1):c.5387T>C (p.Leu1796Pro)
NM_018979.4(WNK1):c.5448+5G>C
NM_018979.4(WNK1):c.5473G>T (p.Ala1825Ser)
NM_018979.4(WNK1):c.5496G>T (p.Gln1832His) rs138219481
NM_018979.4(WNK1):c.5501A>T (p.Gln1834Leu)
NM_018979.4(WNK1):c.5560G>A (p.Val1854Ile)
NM_018979.4(WNK1):c.556G>A (p.Gly186Ser)
NM_018979.4(WNK1):c.5617G>A (p.Gly1873Ser) rs1179634162
NM_018979.4(WNK1):c.5624A>C (p.Asn1875Thr)
NM_018979.4(WNK1):c.5638G>C (p.Ala1880Pro)
NM_018979.4(WNK1):c.5788G>A (p.Ala1930Thr)
NM_018979.4(WNK1):c.5852C>T (p.Thr1951Ile)
NM_018979.4(WNK1):c.5920G>A (p.Gly1974Arg)
NM_018979.4(WNK1):c.5933C>G (p.Ser1978Cys)
NM_018979.4(WNK1):c.5933C>T (p.Ser1978Phe)
NM_018979.4(WNK1):c.5936C>A (p.Pro1979His) rs1954736870
NM_018979.4(WNK1):c.5960C>T (p.Ala1987Val)
NM_018979.4(WNK1):c.5978T>C (p.Ile1993Thr)
NM_018979.4(WNK1):c.599A>C (p.Gln200Pro)
NM_018979.4(WNK1):c.6013T>C (p.Ser2005Pro)
NM_018979.4(WNK1):c.6050C>T (p.Ala2017Val) rs1954746060
NM_018979.4(WNK1):c.6061A>G (p.Arg2021Gly) rs1954746383
NM_018979.4(WNK1):c.6062G>A (p.Arg2021Lys) rs1565604539
NM_018979.4(WNK1):c.6082G>A (p.Gly2028Ser)
NM_018979.4(WNK1):c.6091C>T (p.His2031Tyr)
NM_018979.4(WNK1):c.6175A>G (p.Met2059Val) rs1298904248
NM_018979.4(WNK1):c.6188A>G (p.Asn2063Ser)
NM_018979.4(WNK1):c.6272A>G (p.Gln2091Arg)
NM_018979.4(WNK1):c.6308C>T (p.Thr2103Ile)
NM_018979.4(WNK1):c.6310A>G (p.Lys2104Glu) rs1310976331
NM_018979.4(WNK1):c.6377G>A (p.Arg2126Gln)
NM_018979.4(WNK1):c.640A>G (p.Met214Val)
NM_018979.4(WNK1):c.6454C>T (p.Leu2152=)
NM_018979.4(WNK1):c.6503A>T (p.His2168Leu) rs1555160733
NM_018979.4(WNK1):c.6550C>G (p.Pro2184Ala)
NM_018979.4(WNK1):c.6580C>A (p.Leu2194Ile)
NM_018979.4(WNK1):c.6596C>T (p.Thr2199Ile)
NM_018979.4(WNK1):c.6624C>G (p.Ser2208Arg) rs72650768
NM_018979.4(WNK1):c.6631G>C (p.Ala2211Pro) rs1955178531
NM_018979.4(WNK1):c.6634C>A (p.Pro2212Thr)
NM_018979.4(WNK1):c.6698C>G (p.Ala2233Gly)
NM_018979.4(WNK1):c.6800G>A (p.Arg2267Lys)
NM_018979.4(WNK1):c.6818A>G (p.His2273Arg)
NM_018979.4(WNK1):c.6832-13G>A
NM_018979.4(WNK1):c.6883A>T (p.Met2295Leu) rs762667877
NM_018979.4(WNK1):c.6896T>A (p.Leu2299Gln)
NM_018979.4(WNK1):c.68C>G (p.Pro23Arg)
NM_018979.4(WNK1):c.6923C>T (p.Ala2308Val) rs1955893159
NM_018979.4(WNK1):c.7027C>G (p.Pro2343Ala)
NM_018979.4(WNK1):c.7060G>A (p.Val2354Met)
NM_018979.4(WNK1):c.7133A>G (p.Asn2378Ser) rs1555164556
NM_018979.4(WNK1):c.71C>T (p.Ala24Val)
NM_018979.4(WNK1):c.74C>T (p.Pro25Leu) rs1211154368
NM_018979.4(WNK1):c.76A>G (p.Lys26Glu)
NM_020381.4(PDSS2):c.1030G>T (p.Asp344Tyr)
NM_020381.4(PDSS2):c.1041G>A (p.Lys347=)
NM_020381.4(PDSS2):c.1044G>T (p.Leu348Phe)
NM_020381.4(PDSS2):c.1154G>A (p.Arg385Lys)
NM_020381.4(PDSS2):c.1154G>C (p.Arg385Thr)
NM_020381.4(PDSS2):c.1169A>G (p.Asn390Ser)
NM_020381.4(PDSS2):c.1189A>G (p.Arg397Gly)
NM_020381.4(PDSS2):c.1190_1191del (p.Arg397fs) rs782439454
NM_020381.4(PDSS2):c.277C>T (p.Pro93Ser) rs143121266
NM_020381.4(PDSS2):c.322A>C (p.Ser108Arg)
NM_020381.4(PDSS2):c.35G>A (p.Arg12His)
NM_020381.4(PDSS2):c.410T>C (p.Met137Thr)
NM_020381.4(PDSS2):c.428C>T (p.Ser143Leu)
NM_020381.4(PDSS2):c.439A>T (p.Ser147Cys)
NM_020381.4(PDSS2):c.526G>C (p.Gly176Arg)
NM_020381.4(PDSS2):c.538G>C (p.Asp180His)
NM_020381.4(PDSS2):c.61C>T (p.Arg21Cys)
NM_020381.4(PDSS2):c.630G>A (p.Lys210=)
NM_020381.4(PDSS2):c.703-18_703-17delinsAA
NM_020381.4(PDSS2):c.713T>C (p.Ile238Thr)
NM_020381.4(PDSS2):c.734C>T (p.Ser245Leu)
NM_020381.4(PDSS2):c.76T>G (p.Ser26Ala)
NM_020381.4(PDSS2):c.836T>C (p.Met279Thr)
NM_020381.4(PDSS2):c.875A>G (p.Lys292Arg)
NM_020381.4(PDSS2):c.877-6T>A
NM_020381.4(PDSS2):c.914C>T (p.Thr305Ile)
NM_020381.4(PDSS2):c.988T>C (p.Trp330Arg)
NM_021076.4(NEFH):c.1216C>A (p.Leu406Met)
NM_021625.5(TRPV4):c.1667A>C (p.Tyr556Ser)
NM_021625.5(TRPV4):c.1919C>T (p.Ala640Val)
NM_021625.5(TRPV4):c.569C>T (p.Thr190Met) rs1031096826
NM_022041.4(GAN):c.1207A>G (p.Lys403Glu)
NM_022041.4(GAN):c.1274C>T (p.Ala425Val)
NM_022041.4(GAN):c.497G>C (p.Ser166Thr) rs758366654
NM_022489.4(INF2):c.1019G>A (p.Arg340Gln)
NM_022489.4(INF2):c.1126A>T (p.Thr376Ser) rs376942822
NM_022489.4(INF2):c.1140G>T (p.Lys380Asn)
NM_022489.4(INF2):c.1201_1202del (p.Gln401fs)
NM_022489.4(INF2):c.1217_1228del (p.Leu406_Ser409del)
NM_022489.4(INF2):c.1226C>T (p.Ser409Leu) rs1486781241
NM_022489.4(INF2):c.1262CACCCC[1] (p.Pro423_Pro428del) rs573567814
NM_022489.4(INF2):c.1262CACCCC[5] (p.Pro427_Pro428dup) rs573567814
NM_022489.4(INF2):c.1268C>A (p.Pro423Gln)
NM_022489.4(INF2):c.1280C>T (p.Pro427Leu) rs1889838927
NM_022489.4(INF2):c.1308G>T (p.Glu436Asp) rs1566781633
NM_022489.4(INF2):c.1310C>T (p.Pro437Leu) rs746697423
NM_022489.4(INF2):c.1314TCCCCC[1] (p.Pro444_Pro445del) rs980563049
NM_022489.4(INF2):c.1321C>T (p.Pro441Ser)
NM_022489.4(INF2):c.1336C>A (p.Leu446Met)
NM_022489.4(INF2):c.1348G>C (p.Gly450Arg) rs572969666
NM_022489.4(INF2):c.1369_1371del (p.Ala457del)
NM_022489.4(INF2):c.1376_1387del (p.Pro459_Pro462del) rs1443005224
NM_022489.4(INF2):c.1378C>A (p.Pro460Thr)
NM_022489.4(INF2):c.1421CTC[1] (p.Pro475del) rs1325744353
NM_022489.4(INF2):c.1446C>T (p.Gly482=)
NM_022489.4(INF2):c.1466C>T (p.Pro489Leu) rs1438965620
NM_022489.4(INF2):c.1469C>G (p.Pro490Arg)
NM_022489.4(INF2):c.1493G>T (p.Gly498Val) rs2140669360
NM_022489.4(INF2):c.1555C>A (p.Pro519Thr)
NM_022489.4(INF2):c.1571G>C (p.Cys524Ser) rs2140669651
NM_022489.4(INF2):c.1582C>G (p.Pro528Ala) rs181694819
NM_022489.4(INF2):c.1585C>A (p.Pro529Thr) rs1052608799
NM_022489.4(INF2):c.1609G>T (p.Val537Phe)
NM_022489.4(INF2):c.1637T>G (p.Leu546Trp)
NM_022489.4(INF2):c.163A>G (p.Lys55Glu)
NM_022489.4(INF2):c.1726G>A (p.Val576Met)
NM_022489.4(INF2):c.1736-9_1736-7dup rs2140671935
NM_022489.4(INF2):c.1768C>G (p.Pro590Ala)
NM_022489.4(INF2):c.1820C>G (p.Ser607Cys)
NM_022489.4(INF2):c.1854G>A (p.Met618Ile)
NM_022489.4(INF2):c.1874A>G (p.Lys625Arg)
NM_022489.4(INF2):c.1887+3G>A
NM_022489.4(INF2):c.1932C>G (p.Phe644Leu) rs966287674
NM_022489.4(INF2):c.1981G>T (p.Ala661Ser)
NM_022489.4(INF2):c.2018A>G (p.Lys673Arg)
NM_022489.4(INF2):c.2083C>T (p.Arg695Ter)
NM_022489.4(INF2):c.20C>T (p.Ala7Val)
NM_022489.4(INF2):c.2100C>A (p.Ser700Arg) rs377281840
NM_022489.4(INF2):c.2104G>A (p.Asp702Asn)
NM_022489.4(INF2):c.2138+7A>C
NM_022489.4(INF2):c.2175G>A (p.Glu725=)
NM_022489.4(INF2):c.2197A>T (p.Met733Leu)
NM_022489.4(INF2):c.2203C>T (p.Arg735Trp)
NM_022489.4(INF2):c.229C>G (p.Leu77Val)
NM_022489.4(INF2):c.2419-5T>C
NM_022489.4(INF2):c.242T>C (p.Leu81Pro)
NM_022489.4(INF2):c.2489G>C (p.Gly830Ala) rs377340315
NM_022489.4(INF2):c.2554C>T (p.Arg852Trp)
NM_022489.4(INF2):c.2617A>G (p.Ile873Val)
NM_022489.4(INF2):c.2649T>G (p.Phe883Leu)
NM_022489.4(INF2):c.26G>T (p.Arg9Leu)
NM_022489.4(INF2):c.2709G>C (p.Gln903His) rs762803590
NM_022489.4(INF2):c.2714C>T (p.Ser905Phe)
NM_022489.4(INF2):c.2726C>A (p.Thr909Lys) rs201336550
NM_022489.4(INF2):c.2749C>T (p.Arg917Trp) rs778308700
NM_022489.4(INF2):c.2771T>G (p.Leu924Arg)
NM_022489.4(INF2):c.2785G>T (p.Asp929Tyr)
NM_022489.4(INF2):c.2788C>G (p.Arg930Gly) rs764687744
NM_022489.4(INF2):c.281A>T (p.Asp94Val)
NM_022489.4(INF2):c.2846C>T (p.Ala949Val) rs912951002
NM_022489.4(INF2):c.285C>T (p.Ala95=)
NM_022489.4(INF2):c.2868C>G (p.Asp956Glu) rs748088770
NM_022489.4(INF2):c.2875C>G (p.Pro959Ala)
NM_022489.4(INF2):c.2878+5G>A
NM_022489.4(INF2):c.2905G>A (p.Glu969Lys) rs1890151516
NM_022489.4(INF2):c.2944A>G (p.Lys982Glu)
NM_022489.4(INF2):c.2971C>T (p.Arg991Trp)
NM_022489.4(INF2):c.2980G>A (p.Gly994Arg)
NM_022489.4(INF2):c.3122C>G (p.Ala1041Gly) rs770095888
NM_022489.4(INF2):c.3154G>A (p.Ala1052Thr)
NM_022489.4(INF2):c.3161C>G (p.Thr1054Ser)
NM_022489.4(INF2):c.3182T>G (p.Leu1061Arg)
NM_022489.4(INF2):c.3199G>A (p.Gly1067Ser)
NM_022489.4(INF2):c.3208C>T (p.Arg1070Trp)
NM_022489.4(INF2):c.3230C>T (p.Ser1077Phe)
NM_022489.4(INF2):c.3241G>T (p.Asp1081Tyr)
NM_022489.4(INF2):c.3257T>C (p.Leu1086Pro) rs368869709
NM_022489.4(INF2):c.3294G>C (p.Glu1098Asp)
NM_022489.4(INF2):c.3337C>T (p.Pro1113Ser)
NM_022489.4(INF2):c.335G>A (p.Arg112Gln)
NM_022489.4(INF2):c.3376A>C (p.Ser1126Arg)
NM_022489.4(INF2):c.3519C>G (p.Asp1173Glu) rs767075044
NM_022489.4(INF2):c.3525C>G (p.Asp1175Glu)
NM_022489.4(INF2):c.3542C>T (p.Pro1181Leu)
NM_022489.4(INF2):c.3551C>T (p.Ala1184Val)
NM_022489.4(INF2):c.3598G>A (p.Asp1200Asn) rs764338863
NM_022489.4(INF2):c.3614G>A (p.Gly1205Asp) rs956685612
NM_022489.4(INF2):c.3643_3653del (p.Ser1215fs) rs762985148
NM_022489.4(INF2):c.364C>G (p.Gln122Glu) rs1428719320
NM_022489.4(INF2):c.3650G>A (p.Gly1217Glu)
NM_022489.4(INF2):c.3673C>G (p.Arg1225Gly)
NM_022489.4(INF2):c.3673C>T (p.Arg1225Cys) rs779017318
NM_022489.4(INF2):c.367G>A (p.Gly123Ser)
NM_022489.4(INF2):c.3695-11T>G
NM_022489.4(INF2):c.3714T>A (p.Asp1238Glu) rs775075672
NM_022489.4(INF2):c.3722A>G (p.Lys1241Arg)
NM_022489.4(INF2):c.3729_3732del (p.Lys1243fs) rs1566787039
NM_022489.4(INF2):c.372_391+2del
NM_022489.4(INF2):c.437T>C (p.Leu146Pro)
NM_022489.4(INF2):c.443C>A (p.Ala148Asp)
NM_022489.4(INF2):c.446C>T (p.Ala149Val)
NM_022489.4(INF2):c.473A>C (p.His158Pro)
NM_022489.4(INF2):c.494T>C (p.Leu165Pro) rs1595165937
NM_022489.4(INF2):c.554T>C (p.Leu185Pro) rs1555373625
NM_022489.4(INF2):c.565G>A (p.Asp189Asn) rs753287786
NM_022489.4(INF2):c.578A>G (p.Tyr193Cys)
NM_022489.4(INF2):c.625G>A (p.Glu209Lys) rs1012899025
NM_022489.4(INF2):c.668-3del
NM_022489.4(INF2):c.685G>A (p.Val229Ile) rs752058170
NM_022489.4(INF2):c.701G>A (p.Arg234Gln)
NM_022489.4(INF2):c.722T>C (p.Leu241Pro)
NM_022489.4(INF2):c.731A>T (p.Gln244Leu)
NM_022489.4(INF2):c.739G>C (p.Ala247Pro) rs991189454
NM_022489.4(INF2):c.760G>A (p.Glu254Lys) rs1595169407
NM_022489.4(INF2):c.764A>G (p.Asp255Gly)
NM_022489.4(INF2):c.77C>T (p.Thr26Met) rs1479164061
NM_022489.4(INF2):c.854C>G (p.Ser285Cys)
NM_022489.4(INF2):c.858G>C (p.Pro286=)
NM_022489.4(INF2):c.878C>T (p.Ser293Leu)
NM_022489.4(INF2):c.904G>A (p.Glu302Lys)
NM_022489.4(INF2):c.924C>G (p.Ser308Arg)
NM_022489.4(INF2):c.994T>G (p.Cys332Gly) rs1399811407
NM_024577.4(SH3TC2):c.3512G>A (p.Arg1171His) rs200728983
NM_025137.4(SPG11):c.4804G>A (p.Val1602Met) rs754536969
NM_025137.4(SPG11):c.6493G>A (p.Gly2165Ser)
NM_033305.3(VPS13A):c.126A>C (p.Gln42His)
NM_033305.3(VPS13A):c.4502T>G (p.Val1501Gly)
NM_033305.3(VPS13A):c.6622G>C (p.Val2208Leu)
NM_133259.4(LRPPRC):c.3098C>G (p.Pro1033Arg)
NM_133259.4(LRPPRC):c.808T>C (p.Tyr270His) rs946957597
NM_170707.4(LMNA):c.1006C>T (p.Arg336Trp) rs1237093879
NM_170707.4(LMNA):c.1016C>T (p.Ala339Val) rs756538414
NM_170707.4(LMNA):c.1034T>C (p.Met345Thr)
NM_170707.4(LMNA):c.1046G>A (p.Arg349Gln)
NM_170707.4(LMNA):c.1122C>G (p.His374Gln)
NM_170707.4(LMNA):c.11C>A (p.Pro4Gln) rs267607620
NM_170707.4(LMNA):c.1230G>A (p.Gln410=) rs1651615685
NM_170707.4(LMNA):c.1232G>A (p.Gly411Asp) rs267607647
NM_170707.4(LMNA):c.1234G>T (p.Gly412Trp) rs966050612
NM_170707.4(LMNA):c.1237G>T (p.Gly413Cys) rs766811975
NM_170707.4(LMNA):c.1286G>A (p.Ser429Asn) rs1385994420
NM_170707.4(LMNA):c.1287C>G (p.Ser429Arg) rs1651629254
NM_170707.4(LMNA):c.1453C>G (p.Pro485Ala) rs886042993
NM_170707.4(LMNA):c.1453C>T (p.Pro485Ser)
NM_170707.4(LMNA):c.1499C>T (p.Ala500Val)
NM_170707.4(LMNA):c.1520G>A (p.Ser507Asn)
NM_170707.4(LMNA):c.1529C>T (p.Thr510Ile) rs879254163
NM_170707.4(LMNA):c.161C>T (p.Thr54Met) rs879253992
NM_170707.4(LMNA):c.1655A>C (p.Asp552Ala) rs1651785654
NM_170707.4(LMNA):c.1699-1_1706dup
NM_170707.4(LMNA):c.1712G>A (p.Ser571Asn) rs1250355311
NM_170707.4(LMNA):c.1745G>T (p.Arg582Leu) rs57830985
NM_170707.4(LMNA):c.1786_1800del (p.Asp596_Ala600del) rs2102901580
NM_170707.4(LMNA):c.1840G>T (p.Gly614Cys)
NM_170707.4(LMNA):c.1873_1874delinsCC (p.Ser625Pro) rs1553266553
NM_170707.4(LMNA):c.1894A>G (p.Ser632Gly)
NM_170707.4(LMNA):c.1901G>A (p.Gly634Asp) rs1470825986
NM_170707.4(LMNA):c.190A>G (p.Thr64Ala)
NM_170707.4(LMNA):c.1971C>A (p.Ser657Arg) rs1023544978
NM_170707.4(LMNA):c.244G>C (p.Glu82Gln) rs59270054
NM_170707.4(LMNA):c.250G>A (p.Glu84Lys) rs794728602
NM_170707.4(LMNA):c.268A>G (p.Lys90Glu) rs1445068583
NM_170707.4(LMNA):c.272C>T (p.Thr91Ile) rs1306829976
NM_170707.4(LMNA):c.286G>T (p.Ala96Ser) rs1553262000
NM_170707.4(LMNA):c.326T>A (p.Val109Glu) rs1649740041
NM_170707.4(LMNA):c.356+5G>A rs1572332952
NM_170707.4(LMNA):c.356G>T (p.Arg119Leu) rs397517902
NM_170707.4(LMNA):c.394G>T (p.Ala132Ser)
NM_170707.4(LMNA):c.41C>T (p.Ala14Val)
NM_170707.4(LMNA):c.47C>A (p.Ala16Asp) rs770799870
NM_170707.4(LMNA):c.483G>A (p.Glu161=) rs1553264647
NM_170707.4(LMNA):c.507G>A (p.Val169=)
NM_170707.4(LMNA):c.511A>G (p.Lys171Glu) rs1650991296
NM_170707.4(LMNA):c.593A>G (p.Gln198Arg)
NM_170707.4(LMNA):c.610C>G (p.Leu204Val) rs1553265177
NM_170707.4(LMNA):c.64T>C (p.Ser22Pro)
NM_170707.4(LMNA):c.689A>G (p.Asp230Gly) rs773349450
NM_170707.4(LMNA):c.760G>A (p.Asp254Asn) rs1553265346
NM_170707.4(LMNA):c.762C>A (p.Asp254Glu) rs1558129629
NM_170707.4(LMNA):c.787C>A (p.Leu263Met) rs750246389
NM_170707.4(LMNA):c.853G>T (p.Val285Leu) rs746056534
NM_170707.4(LMNA):c.867C>A (p.His289Gln)
NM_170707.4(LMNA):c.878A>T (p.Gln293Leu) rs1651454980
NM_170707.4(LMNA):c.893G>T (p.Arg298Leu) rs762653476
NM_170707.4(LMNA):c.940G>A (p.Ala314Thr) rs769498020
NM_170707.4(LMNA):c.957G>C (p.Lys319Asn)
NM_170707.4(LMNA):c.983C>T (p.Ala328Val) rs1651545788
NM_182476.3(COQ6):c.1028G>A (p.Arg343Gln)
NM_182476.3(COQ6):c.1049T>C (p.Leu350Ser)
NM_182476.3(COQ6):c.1065G>A (p.Glu355=)
NM_182476.3(COQ6):c.1070T>A (p.Val357Asp)
NM_182476.3(COQ6):c.1079G>A (p.Arg360Gln)
NM_182476.3(COQ6):c.1081G>A (p.Val361Met)
NM_182476.3(COQ6):c.1091T>C (p.Ile364Thr)
NM_182476.3(COQ6):c.1105C>T (p.His369Tyr)
NM_182476.3(COQ6):c.1109G>A (p.Arg370Lys)
NM_182476.3(COQ6):c.1192T>C (p.Phe398Leu)
NM_182476.3(COQ6):c.1279A>G (p.Thr427Ala)
NM_182476.3(COQ6):c.1319C>G (p.Pro440Arg)
NM_182476.3(COQ6):c.1324G>T (p.Val442Leu)
NM_182476.3(COQ6):c.148A>G (p.Met50Val)
NM_182476.3(COQ6):c.163+15A>T
NM_182476.3(COQ6):c.173T>C (p.Ile58Thr)
NM_182476.3(COQ6):c.1A>G (p.Met1Val)
NM_182476.3(COQ6):c.21C>G (p.Ser7Arg)
NM_182476.3(COQ6):c.284C>G (p.Ala95Gly)
NM_182476.3(COQ6):c.299-9_299-6del
NM_182476.3(COQ6):c.347G>A (p.Arg116Gln)
NM_182476.3(COQ6):c.374C>T (p.Ser125Leu)
NM_182476.3(COQ6):c.379_380delinsCT (p.Ala127Leu)
NM_182476.3(COQ6):c.427G>A (p.Val143Met)
NM_182476.3(COQ6):c.427G>T (p.Val143Leu) rs144520464
NM_182476.3(COQ6):c.434A>G (p.Asn145Ser)
NM_182476.3(COQ6):c.439G>A (p.Val147Ile)
NM_182476.3(COQ6):c.473C>T (p.Ala158Val)
NM_182476.3(COQ6):c.485G>A (p.Arg162Gln)
NM_182476.3(COQ6):c.517C>G (p.Arg173Gly)
NM_182476.3(COQ6):c.517C>T (p.Arg173Cys)
NM_182476.3(COQ6):c.518G>C (p.Arg173Pro)
NM_182476.3(COQ6):c.521A>G (p.Tyr174Cys)
NM_182476.3(COQ6):c.549C>T (p.Ala183=)
NM_182476.3(COQ6):c.554C>G (p.Ser185Cys) rs1170799064
NM_182476.3(COQ6):c.565G>A (p.Val189Ile)
NM_182476.3(COQ6):c.595T>C (p.Phe199Leu)
NM_182476.3(COQ6):c.610T>C (p.Leu204=)
NM_182476.3(COQ6):c.635C>G (p.Ser212Cys)
NM_182476.3(COQ6):c.644G>A (p.Arg215Gln)
NM_182476.3(COQ6):c.64G>C (p.Val22Leu)
NM_182476.3(COQ6):c.68C>A (p.Ser23Tyr)
NM_182476.3(COQ6):c.72G>C (p.Trp24Cys)
NM_182476.3(COQ6):c.746A>G (p.Gln249Arg)
NM_182476.3(COQ6):c.76A>G (p.Arg26Gly)
NM_182476.3(COQ6):c.7G>A (p.Ala3Thr)
NM_182476.3(COQ6):c.815C>A (p.Ser272Tyr)
NM_182476.3(COQ6):c.82T>C (p.Ser28Pro)
NM_182476.3(COQ6):c.838G>C (p.Glu280Gln) rs764420746
NM_182476.3(COQ6):c.855T>G (p.Asp285Glu) rs2056604424
NM_182476.3(COQ6):c.865T>C (p.Phe289Leu)
NM_182476.3(COQ6):c.866T>G (p.Phe289Cys)
NM_182476.3(COQ6):c.877G>A (p.Val293Ile) rs201706177
NM_182476.3(COQ6):c.911C>T (p.Thr304Met)
NM_182476.3(COQ6):c.922G>A (p.Asp308Asn)
NM_182476.3(COQ6):c.944A>G (p.Gln315Arg)
NM_198252.3(GSN):c.-9-1981C>T
NM_198252.3(GSN):c.-9-1999_-9-1985del rs751499422
NM_198252.3(GSN):c.-9-2002del
NM_198252.3(GSN):c.-9-2016C>T
NM_198252.3(GSN):c.-9-2022C>T
NM_198252.3(GSN):c.-9-2043C>G rs1202263036
NM_198252.3(GSN):c.-9-2057_-9-2037dup rs762432847
NM_198252.3(GSN):c.-9-2058_-9-2047dup rs1371504521
NM_198252.3(GSN):c.-9-2084del
NM_198252.3(GSN):c.-9-2088G>C
NM_198252.3(GSN):c.-9-2088G>T
NM_198252.3(GSN):c.1000G>A (p.Glu334Lys)
NM_198252.3(GSN):c.100C>A (p.Leu34Ile)
NM_198252.3(GSN):c.100C>G (p.Leu34Val)
NM_198252.3(GSN):c.1191+17G>A
NM_198252.3(GSN):c.1204G>C (p.Glu402Gln)
NM_198252.3(GSN):c.1213A>G (p.Asn405Asp)
NM_198252.3(GSN):c.124G>A (p.Asp42Asn)
NM_198252.3(GSN):c.1256G>A (p.Gly419Glu)
NM_198252.3(GSN):c.1273A>T (p.Ile425Phe)
NM_198252.3(GSN):c.1301G>A (p.Arg434His)
NM_198252.3(GSN):c.1322A>T (p.Asn441Ile)
NM_198252.3(GSN):c.1326-12T>A
NM_198252.3(GSN):c.1379C>T (p.Ala460Val)
NM_198252.3(GSN):c.13C>A (p.His5Asn)
NM_198252.3(GSN):c.1515G>T (p.Gly505=)
NM_198252.3(GSN):c.1522G>A (p.Ala508Thr)
NM_198252.3(GSN):c.1571C>T (p.Ala524Val)
NM_198252.3(GSN):c.1577G>A (p.Arg526Gln) rs528604896
NM_198252.3(GSN):c.157A>G (p.Arg53Gly)
NM_198252.3(GSN):c.1587+17G>T
NM_198252.3(GSN):c.162C>G (p.Asn54Lys) rs146365204
NM_198252.3(GSN):c.1640C>T (p.Thr547Ile)
NM_198252.3(GSN):c.1669A>G (p.Thr557Ala)
NM_198252.3(GSN):c.1747G>T (p.Glu583Ter)
NM_198252.3(GSN):c.1762+2T>C
NM_198252.3(GSN):c.1785C>T (p.Gly595=)
NM_198252.3(GSN):c.1802G>A (p.Arg601His)
NM_198252.3(GSN):c.1850G>A (p.Arg617His) rs9696578
NM_198252.3(GSN):c.1915C>T (p.Gln639Ter) rs2133938132
NM_198252.3(GSN):c.1991C>A (p.Ser664Tyr)
NM_198252.3(GSN):c.1993C>T (p.Gln665Ter)
NM_198252.3(GSN):c.19G>A (p.Glu7Lys)
NM_198252.3(GSN):c.2015C>T (p.Ala672Val)
NM_198252.3(GSN):c.2033G>A (p.Arg678Gln)
NM_198252.3(GSN):c.2059C>T (p.Arg687Trp) rs528764941
NM_198252.3(GSN):c.2074C>A (p.Pro692Thr)
NM_198252.3(GSN):c.2107C>T (p.Pro703Ser)
NM_198252.3(GSN):c.2116G>C (p.Val706Leu)
NM_198252.3(GSN):c.2137del (p.Asp713fs) rs750858951
NM_198252.3(GSN):c.2165T>C (p.Leu722Ser)
NM_198252.3(GSN):c.233C>G (p.Ala78Gly)
NM_198252.3(GSN):c.241A>G (p.Thr81Ala)
NM_198252.3(GSN):c.267C>A (p.Asn89Lys)
NM_198252.3(GSN):c.268G>A (p.Gly90Ser)
NM_198252.3(GSN):c.272G>A (p.Arg91Gln) rs138153246
NM_198252.3(GSN):c.286C>T (p.Arg96Cys) rs866179533
NM_198252.3(GSN):c.287G>A (p.Arg96His)
NM_198252.3(GSN):c.308C>T (p.Ser103Leu)
NM_198252.3(GSN):c.351+5G>A
NM_198252.3(GSN):c.397G>A (p.Val133Met) rs368197143
NM_198252.3(GSN):c.397G>T (p.Val133Leu) rs368197143
NM_198252.3(GSN):c.410G>T (p.Arg137Ile)
NM_198252.3(GSN):c.418del (p.Gln140fs)
NM_198252.3(GSN):c.479A>G (p.Asn160Ser)
NM_198252.3(GSN):c.484G>A (p.Gly162Ser) rs1355688870
NM_198252.3(GSN):c.509G>C (p.Gly170Ala) rs2061035565
NM_198252.3(GSN):c.611G>A (p.Arg204Gln)
NM_198252.3(GSN):c.622C>G (p.His208Asp)
NM_198252.3(GSN):c.649G>A (p.Glu217Lys)
NM_198252.3(GSN):c.653C>T (p.Ala218Val)
NM_198252.3(GSN):c.663+3G>A
NM_198252.3(GSN):c.691G>T (p.Ala231Ser)
NM_198252.3(GSN):c.754-1G>T rs755312209
NM_198252.3(GSN):c.761A>G (p.Asn254Ser) rs756193920
NM_198252.3(GSN):c.804C>T (p.Asn268=)
NM_198252.3(GSN):c.816G>C (p.Gln272His)
NM_198252.3(GSN):c.817G>A (p.Gly273Arg)
NM_198252.3(GSN):c.820G>T (p.Ala274Ser)
NM_198252.3(GSN):c.87C>T (p.Pro29=)
NM_198252.3(GSN):c.902C>T (p.Thr301Met)
NM_198252.3(GSN):c.94A>G (p.Thr32Ala)
NM_198252.3(GSN):c.980C>T (p.Ser327Leu)
NM_198252.3(GSN):c.981G>T (p.Ser327=)
NM_198252.3(GSN):c.997G>A (p.Gly333Ser) rs751431867
NM_213655.5(WNK1):c.2328_2344del (p.Pro777fs) rs1371980928
NM_213655.5(WNK1):c.2568C>G (p.His856Gln) rs767616683
NM_213655.5(WNK1):c.2684C>G (p.Thr895Ser) rs370517971
NM_213655.5(WNK1):c.2990A>G (p.Gln997Arg)
NM_213655.5(WNK1):c.3617C>T (p.Ser1206Phe)

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.