NM_021625.5(TRPV4):c.956C>T (p.Ser319Leu)
|
rs377518118
|
0.00016
|
NM_000182.5(HADHA):c.1637A>G (p.Tyr546Cys)
|
rs370170143
|
0.00007
|
NM_001370658.1(BTD):c.1301A>G (p.Tyr434Cys)
|
rs397514345
|
0.00004
|
NM_002857.4(PEX19):c.215A>G (p.Gln72Arg)
|
rs543271441
|
0.00004
|
NM_003560.4(PLA2G6):c.395G>A (p.Arg132His)
|
rs763734863
|
0.00004
|
NM_001374736.1(DST):c.15898G>A (p.Asp5300Asn)
|
rs200661658
|
0.00003
|
NM_007289.4(MME):c.1154G>A (p.Arg385Gln)
|
rs200791566
|
0.00003
|
NM_014874.4(MFN2):c.1181G>A (p.Arg394His)
|
rs538243357
|
0.00003
|
NM_021625.5(TRPV4):c.2236C>T (p.Arg746Cys)
|
rs375189134
|
0.00003
|
NM_205836.3(FBXO38):c.1796A>C (p.Glu599Ala)
|
rs781374639
|
0.00003
|
NM_014874.4(MFN2):c.445G>A (p.Glu149Lys)
|
rs754016178
|
0.00002
|
NM_015506.3(MMACHC):c.800G>A (p.Arg267Gln)
|
rs765822392
|
0.00002
|
NM_020631.6(PLEKHG5):c.2609C>T (p.Pro870Leu)
|
rs772693344
|
0.00002
|
NM_025137.4(SPG11):c.6738T>G (p.Ile2246Met)
|
rs776998679
|
0.00002
|
NM_001005373.4(LRSAM1):c.284C>T (p.Ala95Val)
|
rs570248730
|
0.00001
|
NM_001365951.3(KIF1B):c.2830G>A (p.Gly944Ser)
|
rs755314640
|
0.00001
|
NM_001540.5(HSPB1):c.121G>A (p.Glu41Lys)
|
rs1393404971
|
0.00001
|
NM_003680.4(YARS1):c.502G>A (p.Gly168Arg)
|
rs1473184666
|
0.00001
|
NM_005957.5(MTHFR):c.973C>T (p.Arg325Cys)
|
rs371085894
|
0.00001
|
NM_007289.4(MME):c.389T>C (p.Ile130Thr)
|
rs200313798
|
0.00001
|
NM_014845.6(FIG4):c.2695C>T (p.Arg899Ter)
|
rs750069994
|
0.00001
|
NM_014874.4(MFN2):c.1189C>T (p.Arg397Trp)
|
rs758948968
|
0.00001
|
NM_015046.7(SETX):c.7814G>A (p.Arg2605Gln)
|
rs543247171
|
0.00001
|
NM_018706.7(DHTKD1):c.677G>A (p.Arg226Lys)
|
rs775851398
|
0.00001
|
NM_020247.5(COQ8A):c.1049A>G (p.Lys350Arg)
|
rs548317868
|
0.00001
|
NM_000081.4(LYST):c.5290G>A (p.Gly1764Ser)
|
|
|
NM_000081.4(LYST):c.7556A>T (p.Tyr2519Phe)
|
|
|
NM_000166.6(GJB1):c.219T>A (p.His73Gln)
|
|
|
NM_000166.6(GJB1):c.256A>G (p.Thr86Ala)
|
rs1602349014
|
|
NM_000166.6(GJB1):c.5A>G (p.Asn2Ser)
|
|
|
NM_000182.5(HADHA):c.173A>G (p.Asn58Ser)
|
|
|
NM_000284.4(PDHA1):c.1088A>C (p.Glu363Ala)
|
|
|
NM_000284.4(PDHA1):c.1143T>G (p.Asn381Lys)
|
|
|
NM_000284.4(PDHA1):c.769A>G (p.Met257Val)
|
|
|
NM_000286.3(PEX12):c.106_107delinsAT (p.Ala36Ile)
|
|
|
NM_000287.4(PEX6):c.1183G>A (p.Gly395Arg)
|
|
|
NM_000287.4(PEX6):c.1774G>C (p.Glu592Gln)
|
rs375288192
|
|
NM_000287.4(PEX6):c.2125G>A (p.Gly709Arg)
|
rs1254717257
|
|
NM_000287.4(PEX6):c.2273C>A (p.Ala758Asp)
|
|
|
NM_000287.4(PEX6):c.2705T>C (p.Leu902Pro)
|
|
|
NM_000304.4(PMP22):c.102C>A (p.His34Gln)
|
rs779654897
|
|
NM_000304.4(PMP22):c.341C>T (p.Ala114Val)
|
rs1217342392
|
|
NM_000344.4(SMN1):c.841A>G (p.Arg281Gly)
|
|
|
NM_000487.6(ARSA):c.1163T>A (p.Val388Asp)
|
|
|
NM_000487.6(ARSA):c.1211-3C>T
|
|
|
NM_000487.6(ARSA):c.217C>T (p.Pro73Ser)
|
|
|
NM_000487.6(ARSA):c.419A>T (p.His140Leu)
|
rs2082687894
|
|
NM_000487.6(ARSA):c.545C>A (p.Pro182Gln)
|
|
|
NM_000487.6(ARSA):c.661T>A (p.Phe221Ile)
|
|
|
NM_000520.6(HEXA):c.1121A>G (p.Gln374Arg)
|
|
|
NM_000520.6(HEXA):c.1329A>C (p.Glu443Asp)
|
|
|
NM_000520.6(HEXA):c.1412C>G (p.Pro471Arg)
|
|
|
NM_000520.6(HEXA):c.788C>T (p.Thr263Ile)
|
rs1057519462
|
|
NM_000520.6(HEXA):c.996C>A (p.Asn332Lys)
|
|
|
NM_000521.4(HEXB):c.1049A>T (p.His350Leu)
|
rs2112175313
|
|
NM_000521.4(HEXB):c.1489A>C (p.Asn497His)
|
|
|
NM_000521.4(HEXB):c.197C>T (p.Thr66Ile)
|
|
|
NM_000521.4(HEXB):c.766A>C (p.Asn256His)
|
rs2112156485
|
|
NM_000530.8(MPZ):c.262T>A (p.Tyr88Asn)
|
|
|
NM_000530.8(MPZ):c.597G>C (p.Lys199Asn)
|
|
|
NM_000530.8(MPZ):c.736G>A (p.Asp246Asn)
|
rs1571816993
|
|
NM_000543.5(SMPD1):c.1487-4G>A
|
|
|
NM_000611.6(CD59):c.286_295del (p.Phe96fs)
|
|
|
NM_000701.8(ATP1A1):c.1645G>A (p.Gly549Arg)
|
rs2101052251
|
|
NM_000701.8(ATP1A1):c.3007G>A (p.Glu1003Lys)
|
|
|
NM_001003800.2(BICD2):c.2327A>C (p.Lys776Thr)
|
rs2131496327
|
|
NM_001005361.3(DNM2):c.1712A>G (p.Lys571Arg)
|
|
|
NM_001005361.3(DNM2):c.70G>A (p.Gly24Ser)
|
|
|
NM_001005361.3(DNM2):c.953G>A (p.Arg318Gln)
|
rs879254323
|
|
NM_001005373.4(LRSAM1):c.528+6T>C
|
|
|
NM_001122955.4(BSCL2):c.1168GAG[2] (p.Glu392del)
|
rs769661232
|
|
NM_001126121.2(SLC25A19):c.748G>A (p.Glu250Lys)
|
|
|
NM_001127649.3(PEX26):c.187C>A (p.Gln63Lys)
|
|
|
NM_001130823.3(DNMT1):c.292G>T (p.Ala98Ser)
|
|
|
NM_001130823.3(DNMT1):c.3655A>G (p.Thr1219Ala)
|
|
|
NM_001201402.2(GALC):c.62T>C (p.Ile21Thr)
|
|
|
NM_001244008.2(KIF1A):c.4585G>A (p.Ala1529Thr)
|
rs572923181
|
|
NM_001303256.3(MORC2):c.1094A>T (p.Glu365Val)
|
|
|
NM_001358921.2(COQ2):c.797C>G (p.Ser266Ter)
|
|
|
NM_001365951.3(KIF1B):c.3892A>G (p.Ile1298Val)
|
rs529804940
|
|
NM_001370298.3(FGD4):c.1685AAG[1] (p.Glu563del)
|
|
|
NM_001376.5(DYNC1H1):c.11531C>T (p.Pro3844Leu)
|
|
|
NM_001376.5(DYNC1H1):c.13022G>C (p.Ser4341Thr)
|
|
|
NM_001376.5(DYNC1H1):c.1963G>A (p.Asp655Asn)
|
|
|
NM_001376.5(DYNC1H1):c.2989C>T (p.Pro997Ser)
|
|
|
NM_001376.5(DYNC1H1):c.3460G>A (p.Glu1154Lys)
|
|
|
NM_002180.3(IGHMBP2):c.1822G>A (p.Val608Met)
|
rs573382473
|
|
NM_002180.3(IGHMBP2):c.2636C>T (p.Thr879Met)
|
rs17612126
|
|
NM_002529.4(NTRK1):c.2141G>A (p.Gly714Asp)
|
rs944740609
|
|
NM_002541.4(OGDH):c.44C>T (p.Thr15Met)
|
|
|
NM_002618.4(PEX13):c.928G>C (p.Val310Leu)
|
|
|
NM_002618.4(PEX13):c.996A>C (p.Lys332Asn)
|
|
|
NM_002693.3(POLG):c.386C>T (p.Pro129Leu)
|
|
|
NM_002693.3(POLG):c.449A>T (p.Tyr150Phe)
|
|
|
NM_002857.4(PEX19):c.469A>G (p.Met157Val)
|
|
|
NM_002857.4(PEX19):c.485T>C (p.Met162Thr)
|
|
|
NM_003560.4(PLA2G6):c.1157C>G (p.Pro386Arg)
|
rs2145753418
|
|
NM_003560.4(PLA2G6):c.1676C>T (p.Pro559Leu)
|
rs2145711085
|
|
NM_003560.4(PLA2G6):c.2030G>T (p.Arg677Leu)
|
rs369038599
|
|
NM_003560.4(PLA2G6):c.221T>C (p.Leu74Pro)
|
|
|
NM_003560.4(PLA2G6):c.370C>T (p.His124Tyr)
|
|
|
NM_003560.4(PLA2G6):c.668C>T (p.Pro223Leu)
|
rs776753796
|
|
NM_003560.4(PLA2G6):c.967G>A (p.Val323Met)
|
|
|
NM_003630.3(PEX3):c.190A>C (p.Thr64Pro)
|
|
|
NM_003632.3(CNTNAP1):c.1228G>A (p.Val410Met)
|
|
|
NM_003680.4(YARS1):c.793A>G (p.Lys265Glu)
|
|
|
NM_004082.5(DCTN1):c.2969G>T (p.Arg990Leu)
|
|
|
NM_004082.5(DCTN1):c.3568G>T (p.Ala1190Ser)
|
|
|
NM_004184.4(WARS1):c.1248C>G (p.Ile416Met)
|
|
|
NM_004813.4(PEX16):c.830G>T (p.Arg277Leu)
|
|
|
NM_005866.4(SIGMAR1):c.391G>A (p.Gly131Ser)
|
|
|
NM_005866.4(SIGMAR1):c.446G>A (p.Gly149Glu)
|
|
|
NM_005908.4(MANBA):c.1115T>C (p.Leu372Ser)
|
|
|
NM_005908.4(MANBA):c.2282G>C (p.Cys761Ser)
|
rs538584064
|
|
NM_005957.5(MTHFR):c.1442C>A (p.Thr481Asn)
|
|
|
NM_005957.5(MTHFR):c.358T>C (p.Cys120Arg)
|
|
|
NM_005957.5(MTHFR):c.362G>T (p.Gly121Val)
|
|
|
NM_005957.5(MTHFR):c.708C>G (p.Phe236Leu)
|
|
|
NM_005957.5(MTHFR):c.755T>G (p.Ile252Ser)
|
|
|
NM_006096.4(NDRG1):c.943+5G>A
|
rs778982295
|
|
NM_006158.5(NEFL):c.1412C>A (p.Pro471His)
|
rs756696405
|
|
NM_006158.5(NEFL):c.311T>G (p.Phe104Cys)
|
|
|
NM_007289.4(MME):c.1229G>A (p.Arg410His)
|
|
|
NM_007289.4(MME):c.917C>T (p.Ala306Val)
|
rs1407756399
|
|
NM_012073.5(CCT5):c.142A>G (p.Met48Val)
|
|
|
NM_014629.4(ARHGEF10):c.2711C>G (p.Thr904Ser)
|
|
|
NM_014845.6(FIG4):c.504C>G (p.Ser168Arg)
|
|
|
NM_014845.6(FIG4):c.649G>T (p.Val217Leu)
|
|
|
NM_014874.4(MFN2):c.2096T>C (p.Leu699Pro)
|
|
|
NM_014874.4(MFN2):c.321T>G (p.Asn107Lys)
|
rs1638897505
|
|
NM_014874.4(MFN2):c.462GAG[1] (p.Arg155del)
|
|
|
NM_015046.7(SETX):c.7516G>A (p.Ala2506Thr)
|
rs1160553456
|
|
NM_015271.5(TRIM2):c.738G>C (p.Lys246Asn)
|
|
|
NM_015459.5(ATL3):c.1114G>A (p.Gly372Arg)
|
|
|
NM_015506.3(MMACHC):c.848del (p.Ter283TyrextTer?)
|
rs1553163024
|
|
NM_016035.5(COQ4):c.400A>G (p.Asn134Asp)
|
|
|
NM_016138.5(COQ7):c.218T>A (p.Val73Asp)
|
|
|
NM_016138.5(COQ7):c.367+5G>A
|
|
|
NM_016156.6(MTMR2):c.1357T>C (p.Trp453Arg)
|
|
|
NM_018706.7(DHTKD1):c.1391A>G (p.Glu464Gly)
|
rs576359665
|
|
NM_018972.4(GDAP1):c.827T>G (p.Leu276Trp)
|
|
|
NM_020631.6(PLEKHG5):c.2839G>A (p.Gly947Arg)
|
|
|
NM_020631.6(PLEKHG5):c.352G>A (p.Val118Met)
|
|
|
NM_022041.4(GAN):c.156C>A (p.Ser52Arg)
|
|
|
NM_022041.4(GAN):c.1690dup (p.Asp564fs)
|
|
|
NM_022489.4(INF2):c.365A>G (p.Gln122Arg)
|
|
|
NM_024577.4(SH3TC2):c.2627C>A (p.Ala876Glu)
|
|
|
NM_024577.4(SH3TC2):c.3692_3693del (p.Thr1231fs)
|
|
|
NM_025137.4(SPG11):c.4804G>A (p.Val1602Met)
|
rs754536969
|
|
NM_030962.4(SBF2):c.776C>T (p.Pro259Leu)
|
|
|
NM_033305.3(VPS13A):c.9067_9069delinsTGG (p.Gly3023Trp)
|
|
|
NM_133259.4(LRPPRC):c.1550C>G (p.Ala517Gly)
|
|
|
NM_133259.4(LRPPRC):c.40G>A (p.Ala14Thr)
|
|
|
NM_181882.3(PRX):c.3197T>G (p.Phe1066Cys)
|
|
|
NM_198252.3(GSN):c.-9-2091_-9-2064del
|
rs764841269
|
|