|
NM_001370658.1(BTD):c.1270G>C (p.Asp424His)
|
rs13078881
|
0.03225
|
|
NM_000153.4(GALC):c.334A>G (p.Thr112Ala)
|
rs147313927
|
0.00229
|
|
NM_017411.4(SMN2):c.859G>C (p.Gly287Arg)
|
rs121909192
|
0.00208
|
|
NM_024577.4(SH3TC2):c.505T>C (p.Tyr169His)
|
rs80359890
|
0.00205
|
|
NM_015506.3(MMACHC):c.271dup (p.Arg91fs)
|
rs398124292
|
0.00093
|
|
NM_024577.4(SH3TC2):c.1298C>T (p.Ser433Leu)
|
rs200967041
|
0.00088
|
|
NM_002693.3(POLG):c.1399G>A (p.Ala467Thr)
|
rs113994095
|
0.00068
|
|
NM_024577.4(SH3TC2):c.2860C>T (p.Arg954Ter)
|
rs80338933
|
0.00067
|
|
NM_000288.4(PEX7):c.875T>A (p.Leu292Ter)
|
rs1805137
|
0.00048
|
|
NM_000487.6(ARSA):c.465+1G>A
|
rs80338815
|
0.00046
|
|
NM_000520.6(HEXA):c.1274_1277dup (p.Tyr427fs)
|
rs387906309
|
0.00046
|
|
NM_000521.4(HEXB):c.1250C>T (p.Pro417Leu)
|
rs28942073
|
0.00046
|
|
NM_003560.4(PLA2G6):c.2068G>A (p.Val690Ile)
|
rs141777179
|
0.00041
|
|
NM_001370658.1(BTD):c.451G>A (p.Ala151Thr)
|
rs13073139
|
0.00039
|
|
NM_000487.6(ARSA):c.1283C>T (p.Pro428Leu)
|
rs28940893
|
0.00037
|
|
NM_015506.3(MMACHC):c.440G>C (p.Gly147Ala)
|
rs140522266
|
0.00034
|
|
NM_000784.4(CYP27A1):c.1183C>T (p.Arg395Cys)
|
rs121908096
|
0.00031
|
|
NM_014874.4(MFN2):c.2119C>T (p.Arg707Trp)
|
rs119103267
|
0.00029
|
|
NM_000466.3(PEX1):c.2528G>A (p.Gly843Asp)
|
rs61750420
|
0.00025
|
|
NM_000520.6(HEXA):c.1073+1G>A
|
rs76173977
|
0.00021
|
|
NM_000153.4(GALC):c.956A>G (p.Tyr319Cys)
|
rs183105855
|
0.00019
|
|
NM_000287.4(PEX6):c.617G>A (p.Gly206Glu)
|
rs139093654
|
0.00018
|
|
NM_002180.3(IGHMBP2):c.1488C>A (p.Cys496Ter)
|
rs145226920
|
0.00016
|
|
NM_000520.6(HEXA):c.805G>A (p.Gly269Ser)
|
rs121907954
|
0.00015
|
|
NM_000466.3(PEX1):c.3283G>A (p.Asp1095Asn)
|
rs753699011
|
0.00014
|
|
NM_005908.4(MANBA):c.1499G>A (p.Arg500His)
|
rs147542645
|
0.00014
|
|
NM_015506.3(MMACHC):c.389A>G (p.Tyr130Cys)
|
rs200094982
|
0.00014
|
|
NM_001130823.3(DNMT1):c.382C>A (p.Pro128Thr)
|
rs146601335
|
0.00013
|
|
NM_000487.6(ARSA):c.511G>A (p.Asp171Asn)
|
rs74315466
|
0.00010
|
|
NM_002180.3(IGHMBP2):c.1082T>C (p.Leu361Pro)
|
rs201060167
|
0.00008
|
|
NM_002693.3(POLG):c.2740A>C (p.Thr914Pro)
|
rs139590686
|
0.00008
|
|
NM_003632.3(CNTNAP1):c.3560G>A (p.Arg1187His)
|
rs374717974
|
0.00008
|
|
NM_181882.3(PRX):c.553C>T (p.Arg185Cys)
|
rs376863946
|
0.00008
|
|
NM_003560.4(PLA2G6):c.2370T>G (p.Tyr790Ter)
|
rs121908680
|
0.00006
|
|
NM_015046.7(SETX):c.3016G>A (p.Gly1006Arg)
|
rs141266068
|
0.00006
|
|
NM_000166.6(GJB1):c.319C>T (p.Arg107Trp)
|
rs863224973
|
0.00005
|
|
NM_000288.4(PEX7):c.649G>A (p.Gly217Arg)
|
rs121909152
|
0.00005
|
|
NM_000371.4(TTR):c.148G>A (p.Val50Met)
|
rs28933979
|
0.00004
|
|
NM_003560.4(PLA2G6):c.2221C>T (p.Arg741Trp)
|
rs530348521
|
0.00004
|
|
NM_005957.5(MTHFR):c.155G>A (p.Arg52Gln)
|
rs754980119
|
0.00004
|
|
NM_016138.5(COQ7):c.319C>T (p.Arg107Trp)
|
rs769570290
|
0.00004
|
|
NM_001349253.2(SCN11A):c.1061G>A (p.Arg354Gln)
|
rs1380372157
|
0.00003
|
|
NM_001370658.1(BTD):c.1046C>T (p.Pro349Leu)
|
rs397514400
|
0.00003
|
|
NM_001370658.1(BTD):c.908A>G (p.His303Arg)
|
rs397507176
|
0.00003
|
|
NM_005957.5(MTHFR):c.1699C>T (p.Arg567Ter)
|
rs140277700
|
0.00003
|
|
NM_015459.5(ATL3):c.1346C>T (p.Thr449Met)
|
rs775539106
|
0.00003
|
|
NM_170707.4(LMNA):c.892C>T (p.Arg298Cys)
|
rs59885338
|
0.00003
|
|
NM_000153.4(GALC):c.857G>A (p.Gly286Asp)
|
rs199847983
|
0.00002
|
|
NM_000274.4(OAT):c.860T>C (p.Ile287Thr)
|
rs550949287
|
0.00002
|
|
NM_000520.6(HEXA):c.1421+1G>C
|
rs147324677
|
0.00002
|
|
NM_001003800.2(BICD2):c.1126A>G (p.Thr376Ala)
|
rs757885234
|
0.00002
|
|
NM_001130823.3(DNMT1):c.3353A>G (p.His1118Arg)
|
rs150331990
|
0.00002
|
|
NM_002693.3(POLG):c.1156C>T (p.Arg386Cys)
|
rs199759055
|
0.00002
|
|
NM_000143.4(FH):c.923C>G (p.Ala308Gly)
|
rs1057524385
|
0.00001
|
|
NM_000153.4(GALC):c.1630G>A (p.Asp544Asn)
|
rs387906952
|
0.00001
|
|
NM_000274.4(OAT):c.722C>T (p.Pro241Leu)
|
rs121965051
|
0.00001
|
|
NM_000287.4(PEX6):c.1801C>T (p.Arg601Trp)
|
rs61753225
|
0.00001
|
|
NM_000287.4(PEX6):c.2362G>A (p.Val788Met)
|
rs267608240
|
0.00001
|
|
NM_000371.4(TTR):c.238A>G (p.Thr80Ala)
|
rs121918070
|
0.00001
|
|
NM_000371.4(TTR):c.367C>T (p.Arg123Cys)
|
rs371566010
|
0.00001
|
|
NM_000466.3(PEX1):c.2614C>T (p.Arg872Ter)
|
rs61750422
|
0.00001
|
|
NM_000487.6(ARSA):c.1115G>A (p.Arg372Gln)
|
rs74315477
|
0.00001
|
|
NM_000520.6(HEXA):c.1444G>A (p.Glu482Lys)
|
rs121907952
|
0.00001
|
|
NM_000520.6(HEXA):c.1510C>T (p.Arg504Cys)
|
rs28942071
|
0.00001
|
|
NM_000520.6(HEXA):c.233G>A (p.Trp78Ter)
|
rs769035623
|
0.00001
|
|
NM_000520.6(HEXA):c.508C>T (p.Arg170Trp)
|
rs121907972
|
0.00001
|
|
NM_001005361.3(DNM2):c.2152C>T (p.Arg718Trp)
|
rs763927287
|
0.00001
|
|
NM_001031710.3(KLHL7):c.1258C>T (p.Arg420Cys)
|
rs780705654
|
0.00001
|
|
NM_001244008.2(KIF1A):c.2357C>T (p.Thr786Met)
|
rs766807173
|
0.00001
|
|
NM_001303256.3(MORC2):c.956G>A (p.Arg319His)
|
rs1163530787
|
0.00001
|
|
NM_001365536.1(SCN9A):c.5351del (p.Glu1784fs)
|
rs1553473041
|
0.00001
|
|
NM_001540.5(HSPB1):c.250G>C (p.Gly84Arg)
|
rs770272088
|
0.00001
|
|
NM_001605.3(AARS1):c.1823C>T (p.Thr608Met)
|
rs1597435885
|
0.00001
|
|
NM_001931.5(DLAT):c.1728C>A (p.Phe576Leu)
|
rs119103240
|
0.00001
|
|
NM_002109.6(HARS1):c.256C>T (p.Arg86Cys)
|
rs775758650
|
0.00001
|
|
NM_002180.3(IGHMBP2):c.1273C>T (p.Arg425Cys)
|
rs1303837541
|
0.00001
|
|
NM_003846.3(PEX11B):c.595C>T (p.Arg199Ter)
|
rs781984979
|
0.00001
|
|
NM_004208.4(AIFM1):c.1646C>T (p.Ala549Val)
|
rs761953453
|
0.00001
|
|
NM_005957.5(MTHFR):c.1013T>C (p.Met338Thr)
|
rs368321176
|
0.00001
|
|
NM_015506.3(MMACHC):c.394C>T (p.Arg132Ter)
|
rs121918241
|
0.00001
|
|
NM_016138.5(COQ7):c.161G>A (p.Arg54Gln)
|
rs770654508
|
0.00001
|
|
NM_021625.5(TRPV4):c.1277C>T (p.Thr426Met)
|
rs757522459
|
0.00001
|
|
NM_024577.4(SH3TC2):c.386-2A>C
|
rs145670786
|
0.00001
|
|
NM_170707.4(LMNA):c.1315C>T (p.Arg439Cys)
|
rs62636506
|
0.00001
|
|
NM_213655.5(WNK1):c.2920C>T (p.Gln974Ter)
|
rs1478989689
|
0.00001
|
|
NC_000002.12:g.43986415_44009956del
|
|
|
|
NM_000052.7(ATP7A):c.2096T>A (p.Met699Lys)
|
rs2149095258
|
|
|
NM_000108.5(DLD):c.1436A>T (p.Asp479Val)
|
rs397514649
|
|
|
NM_000143.4(FH):c.1A>C (p.Met1Leu)
|
rs776806414
|
|
|
NM_000153.4(GALC):c.1114G>T (p.Ala372Ser)
|
rs759286485
|
|
|
NM_000153.4(GALC):c.82G>T (p.Ala28Ser)
|
|
|
|
NM_000166.6(GJB1):c.423C>G (p.Phe141Leu)
|
rs1555937180
|
|
|
NM_000166.6(GJB1):c.43C>T (p.Arg15Trp)
|
rs116840815
|
|
|
NM_000166.6(GJB1):c.445T>A (p.Phe149Ile)
|
rs1602349369
|
|
|
NM_000166.6(GJB1):c.475G>A (p.Gly159Ser)
|
rs1555937194
|
|
|
NM_000182.5(HADHA):c.1811del (p.Gly604fs)
|
rs747985669
|
|
|
NM_000182.5(HADHA):c.302G>T (p.Gly101Val)
|
|
|
|
NM_000182.5(HADHA):c.72del (p.Gly23_Tyr24insTer)
|
rs1553316176
|
|
|
NM_000182.5(HADHA):c.800-1G>T
|
rs1553314024
|
|
|
NM_000214.3(JAG1):c.1856A>G (p.Lys619Arg)
|
rs1009426924
|
|
|
NM_000217.3(KCNA1):c.931G>T (p.Gly311Cys)
|
rs1947357459
|
|
|
NM_000217.3(KCNA1):c.985C>A (p.Leu329Ile)
|
|
|
|
NM_000284.4(PDHA1):c.1045G>A (p.Ala349Thr)
|
rs886044701
|
|
|
NM_000284.4(PDHA1):c.1091T>G (p.Leu364Arg)
|
|
|
|
NM_000284.4(PDHA1):c.1133G>A (p.Arg378His)
|
rs137853250
|
|
|
NM_000284.4(PDHA1):c.194A>C (p.Tyr65Ser)
|
|
|
|
NM_000284.4(PDHA1):c.483C>T (p.Tyr161=)
|
rs398123300
|
|
|
NM_000284.4(PDHA1):c.511G>A (p.Val171Met)
|
|
|
|
NM_000284.4(PDHA1):c.518T>C (p.Leu173Pro)
|
|
|
|
NM_000284.4(PDHA1):c.57+2505C>G
|
|
|
|
NM_000284.4(PDHA1):c.628A>G (p.Met210Val)
|
rs794727843
|
|
|
NM_000284.4(PDHA1):c.863G>A (p.Arg288His)
|
rs137853258
|
|
|
NM_000284.4(PDHA1):c.934_940del (p.Ser312fs)
|
rs606231185
|
|
|
NM_000287.4(PEX6):c.1054C>T (p.Gln352Ter)
|
rs267608212
|
|
|
NM_000287.4(PEX6):c.1314_1321del (p.Glu439fs)
|
rs267608216
|
|
|
NM_000287.4(PEX6):c.1947del (p.Ile650fs)
|
rs267608227
|
|
|
NM_000287.4(PEX6):c.1996G>T (p.Glu666Ter)
|
rs1769818844
|
|
|
NM_000344.4(SMN1):c.283G>C (p.Gly95Arg)
|
rs104893927
|
|
|
NM_000344.4(SMN1):c.291del (p.Lys97fs)
|
rs2112806309
|
|
|
NM_000344.4(SMN1):c.549del (p.Lys184fs)
|
rs2112806512
|
|
|
NM_000344.4(SMN1):c.724-54C>T
|
|
|
|
NM_000344.4(SMN1):c.785G>T (p.Ser262Ile)
|
rs1554066659
|
|
|
NM_000344.4(SMN1):c.803A>G (p.Tyr268Cys)
|
rs1554082113
|
|
|
NM_000344.4(SMN1):c.815A>G (p.Tyr272Cys)
|
rs104893922
|
|
|
NM_000399.5(EGR2):c.1064A>G (p.Asp355Gly)
|
rs1589080611
|
|
|
NM_000399.5(EGR2):c.1075C>G (p.Arg359Gly)
|
rs104894161
|
|
|
NM_000466.3(PEX1):c.1730G>A (p.Arg577His)
|
|
|
|
NM_000466.3(PEX1):c.2165T>C (p.Leu722Pro)
|
|
|
|
NM_000466.3(PEX1):c.2396dup (p.Ser800fs)
|
rs778871894
|
|
|
NM_000466.3(PEX1):c.2916del (p.Gly973fs)
|
rs61750426
|
|
|
NM_000466.3(PEX1):c.3085G>T (p.Asp1029Tyr)
|
|
|
|
NM_000466.3(PEX1):c.831_834del (p.Ser278fs)
|
rs2116245323
|
|
|
NM_000487.6(ARSA):c.1360G>A (p.Val454Met)
|
|
|
|
NM_000487.6(ARSA):c.739G>A (p.Gly247Arg)
|
rs74315471
|
|
|
NM_000520.6(HEXA):c.736G>A (p.Ala246Thr)
|
rs758166013
|
|
|
NM_000521.4(HEXB):c.1061A>G (p.Asp354Gly)
|
rs781244479
|
|
|
NM_000530.8(MPZ):c.233C>A (p.Ser78Ter)
|
|
|
|
NM_000530.8(MPZ):c.253G>T (p.Gly85Ter)
|
|
|
|
NM_000530.8(MPZ):c.356A>G (p.Tyr119Cys)
|
rs879254038
|
|
|
NM_000701.8(ATP1A1):c.1798C>G (p.Pro600Ala)
|
rs1553192091
|
|
|
NM_000701.8(ATP1A1):c.8A>C (p.Lys3Thr)
|
rs976510541
|
|
|
NM_000784.4(CYP27A1):c.437C>T (p.Pro146Leu)
|
|
|
|
NM_001003800.2(BICD2):c.1784C>T (p.Ala595Val)
|
|
|
|
NM_001005361.3(DNM2):c.1196+745G>T
|
|
|
|
NM_001005361.3(DNM2):c.2390C>T (p.Pro797Leu)
|
|
|
|
NM_001031710.3(KLHL7):c.1463G>A (p.Gly488Asp)
|
|
|
|
NM_001122955.4(BSCL2):c.478C>A (p.Arg160Ser)
|
rs772536764
|
|
|
NM_001130438.3(SPTAN1):c.2988dup (p.Leu997fs)
|
rs2131267665
|
|
|
NM_001130823.3(DNMT1):c.1532A>G (p.Tyr511Cys)
|
rs199473690
|
|
|
NM_001130823.3(DNMT1):c.3256G>A (p.Glu1086Lys)
|
|
|
|
NM_001130823.3(DNMT1):c.3388G>A (p.Gly1130Arg)
|
|
|
|
NM_001244008.2(KIF1A):c.790C>T (p.Arg264Cys)
|
|
|
|
NM_001349253.2(SCN11A):c.4894A>G (p.Lys1632Glu)
|
|
|
|
NM_001351132.2(PEX5):c.552G>A (p.Trp184Ter)
|
rs1419213790
|
|
|
NM_001365536.1(SCN9A):c.1828C>A (p.Pro610Thr)
|
rs41268673
|
|
|
NM_001365536.1(SCN9A):c.2424G>A (p.Trp808Ter)
|
rs769971743
|
|
|
NM_001374736.1(DST):c.4930-1094_4930-1092del
|
|
|
|
NM_001376.5(DYNC1H1):c.1792C>T (p.Arg598Cys)
|
rs587780564
|
|
|
NM_001376.5(DYNC1H1):c.5597T>A (p.Phe1866Tyr)
|
rs2141289673
|
|
|
NM_001376.5(DYNC1H1):c.7213G>A (p.Gly2405Arg)
|
rs2152581608
|
|
|
NM_001377137.1(GBF1):c.5501C>T (p.Ala1834Val)
|
rs770517190
|
|
|
NM_001386140.1(MTTP):c.1344+2T>A
|
|
|
|
NM_001386140.1(MTTP):c.61+2T>C
|
|
|
|
NM_001540.5(HSPB1):c.544C>T (p.Pro182Ser)
|
rs104894020
|
|
|
NM_001953.5(TYMP):c.1109A>T (p.Gln370Leu)
|
rs1276418601
|
|
|
NM_001953.5(TYMP):c.1444C>T (p.Gln482Ter)
|
|
|
|
NM_001953.5(TYMP):c.695T>C (p.Val232Ala)
|
rs1294823677
|
|
|
NM_001953.5(TYMP):c.893G>A (p.Gly298Asp)
|
rs1064792872
|
|
|
NM_002495.4(NDUFS4):c.350+1G>T
|
|
|
|
NM_002529.4(NTRK1):c.2207C>A (p.Ala736Glu)
|
|
|
|
NM_002617.4(PEX10):c.637dup (p.Ala213fs)
|
|
|
|
NM_002693.3(POLG):c.3328C>T (p.His1110Tyr)
|
rs2152058760
|
|
|
NM_002693.3(POLG):c.3509T>G (p.Leu1170Arg)
|
rs796052913
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NM_002693.3(POLG):c.3538_3539dup (p.Ala1182fs)
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NM_002693.3(POLG):c.3637C>T (p.Pro1213Ser)
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rs2055307106
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NM_002693.3(POLG):c.419G>T (p.Arg140Leu)
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NM_002972.4(SBF1):c.2569+2T>C
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NM_002972.4(SBF1):c.2948T>C (p.Leu983Pro)
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NM_003104.6(SORD):c.73_88del (p.Tyr25fs)
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NM_003104.6(SORD):c.757del (p.Ala253fs)
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rs55901542
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NM_003560.4(PLA2G6):c.1069G>A (p.Ala357Thr)
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rs2145770192
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NM_003560.4(PLA2G6):c.562A>G (p.Thr188Ala)
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NM_003560.4(PLA2G6):c.710G>C (p.Arg237Pro)
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NM_003632.3(CNTNAP1):c.3361C>T (p.Arg1121Ter)
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rs142756549
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NM_004813.4(PEX16):c.714G>C (p.Trp238Cys)
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NM_004863.4(SPTLC2):c.1151C>T (p.Ser384Phe)
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rs1594986869
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NM_004990.4(MARS1):c.916C>T (p.Leu306Phe)
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NM_005908.4(MANBA):c.549+1G>A
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rs1334537145
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NM_005957.5(MTHFR):c.1166+5G>C
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rs1483632178
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NM_005957.5(MTHFR):c.1228_1242del (p.Ser410_Lys414del)
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rs1297161027
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NM_005957.5(MTHFR):c.1796A>G (p.Tyr599Cys)
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rs2100495013
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NM_006158.5(NEFL):c.1357G>T (p.Glu453Ter)
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NM_006158.5(NEFL):c.18C>G (p.Tyr6Ter)
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rs2117256073
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NM_006415.4(SPTLC1):c.58G>T (p.Ala20Ser)
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rs879254294
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NM_006736.6(DNAJB2):c.65+1G>C
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NM_007046.4(EMILIN1):c.2299A>G (p.Thr767Ala)
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NM_007126.5(VCP):c.1106T>C (p.Ile369Thr)
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rs1828723406
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NM_007289.4(MME):c.1094+5G>T
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rs1048105813
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NM_014317.5(PDSS1):c.173_174insA (p.Ile58_Asn59insTer)
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NM_014317.5(PDSS1):c.18G>A (p.Trp6Ter)
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NM_014317.5(PDSS1):c.484C>G (p.Gln162Glu)
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NM_014365.3(HSPB8):c.508del (p.Gln170fs)
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NM_014874.4(MFN2):c.1555C>T (p.Arg519Cys)
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rs369140232
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NM_014874.4(MFN2):c.1817del (p.Gly606fs)
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NM_014874.4(MFN2):c.629A>G (p.Asp210Gly)
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rs1639043704
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NM_014874.4(MFN2):c.691T>C (p.Ser231Pro)
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NM_014874.4(MFN2):c.730G>A (p.Val244Met)
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rs879253777
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NM_014874.4(MFN2):c.775C>T (p.Arg259Cys)
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rs587777875
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NM_015046.7(SETX):c.6421dup (p.Gln2141fs)
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NM_015506.3(MMACHC):c.544T>C (p.Cys182Arg)
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rs955468279
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NM_015506.3(MMACHC):c.701del (p.Leu234fs)
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rs767339897
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NM_017446.4(MRPL39):c.526del (p.Ser176fs)
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NM_018082.6(POLR3B):c.2024C>T (p.Pro675Leu)
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NM_018972.4(GDAP1):c.579+5G>A
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rs1809391441
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NM_020247.5(COQ8A):c.210del (p.Asn71fs)
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NM_021076.4(NEFH):c.1095del (p.Gln365fs)
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NM_021629.4(GNB4):c.834C>A (p.Phe278Leu)
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NM_022489.4(INF2):c.1733G>A (p.Arg578His)
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NM_022834.5(VWA1):c.462del (p.Met155fs)
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NM_024577.4(SH3TC2):c.335C>T (p.Thr112Ile)
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NM_025137.4(SPG11):c.1906C>G (p.Leu636Val)
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rs145316065
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NM_133259.4(LRPPRC):c.121C>T (p.Pro41Ser)
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rs908473003
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NM_133259.4(LRPPRC):c.2882T>C (p.Leu961Pro)
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