ClinVar Miner

List of variants in gene MFN2 studied for Charcot-Marie-Tooth disease type 2

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Gene type:
ClinVar version:
Total variants: 1043
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HGVS dbSNP gnomAD frequency
NM_014874.4(MFN2):c.*58A>G rs1042842 0.71104
NM_014874.4(MFN2):c.*896G>C rs3088064 0.55550
NM_014874.4(MFN2):c.2204+15T>C rs77262016 0.07587
NM_014874.4(MFN2):c.*1488C>T rs11554507 0.05000
NM_014874.4(MFN2):c.*912C>T rs14305 0.04860
NM_014874.4(MFN2):c.1569C>T (p.Ser523=) rs1042837 0.04459
NM_014874.4(MFN2):c.*1100A>G rs41278638 0.04352
NM_014874.4(MFN2):c.-149-15T>G rs114306601 0.02600
NM_014874.4(MFN2):c.159C>T (p.Ser53=) rs61733200 0.02240
NM_014874.4(MFN2):c.*1576C>T rs78523898 0.02185
NM_014874.4(MFN2):c.*730C>T rs112550280 0.02163
NM_014874.4(MFN2):c.*1161C>A rs115706485 0.02157
NM_014874.4(MFN2):c.*231G>A rs41278636 0.01666
NM_014874.4(MFN2):c.*777T>C rs112854268 0.01628
NM_014874.3(MFN2):c.-249T>A rs2180182 0.01549
NM_014874.3(MFN2):c.-287C>T rs2180181 0.01457
NM_014874.4(MFN2):c.2205-13C>A rs76020240 0.01362
NM_014874.4(MFN2):c.1039-19G>A rs74052923 0.01120
NM_014874.4(MFN2):c.*304A>G rs80118679 0.00765
NM_014874.4(MFN2):c.970+19G>A rs75865135 0.00707
NM_014874.4(MFN2):c.957C>T (p.Gly319=) rs41278632 0.00690
NM_014874.4(MFN2):c.2113G>A (p.Val705Ile) rs142271930 0.00621
NM_014874.4(MFN2):c.744C>T (p.Leu248=) rs61733205 0.00563
NM_014874.4(MFN2):c.*1034C>T rs56333319 0.00395
NM_014874.4(MFN2):c.*1830C>T rs74609163 0.00335
NM_014874.4(MFN2):c.975C>T (p.Gly325=) rs141475476 0.00324
NM_014874.4(MFN2):c.1403G>A (p.Arg468His) rs138382758 0.00237
NM_014874.4(MFN2):c.892G>A (p.Gly298Arg) rs41278630 0.00218
NM_014874.4(MFN2):c.408A>T (p.Val136=) rs78814413 0.00186
NM_014874.4(MFN2):c.663T>C (p.Asp221=) rs116504054 0.00168
NM_014874.4(MFN2):c.1179G>A (p.Met393Ile) rs12069578 0.00153
NM_014874.4(MFN2):c.150C>A (p.Ile50=) rs78841746 0.00130
NM_014874.4(MFN2):c.165C>T (p.Thr55=) rs77458527 0.00106
NM_014874.4(MFN2):c.891C>T (p.Ala297=) rs11554508 0.00087
NM_014874.4(MFN2):c.1452G>A (p.Thr484=) rs150043585 0.00086
NM_014874.4(MFN2):c.*1546G>A rs3737960 0.00074
NM_014874.4(MFN2):c.-4-13G>T rs373679523 0.00065
NM_014874.4(MFN2):c.1495+9C>T rs375494746 0.00059
NM_014874.4(MFN2):c.756C>T (p.Asn252=) rs137960129 0.00053
NM_014874.4(MFN2):c.72G>T (p.Val24=) rs138454088 0.00044
NM_014874.4(MFN2):c.1827C>T (p.Ser609=) rs138724074 0.00039
NM_014874.4(MFN2):c.1728C>T (p.Pro576=) rs147802404 0.00036
NM_014874.4(MFN2):c.2146G>A (p.Ala716Thr) rs144860227 0.00032
NM_014874.4(MFN2):c.*413C>T rs558887681 0.00031
NM_014874.4(MFN2):c.2119C>T (p.Arg707Trp) rs119103267 0.00029
NM_014874.4(MFN2):c.*1054C>T rs951038336 0.00025
NM_014874.4(MFN2):c.*1539G>A rs557643473 0.00025
NM_014874.4(MFN2):c.1101G>C (p.Gln367His) rs373211062 0.00024
NM_014874.4(MFN2):c.*1535C>T rs778755558 0.00019
NM_014874.4(MFN2):c.*946C>A rs765105334 0.00019
NM_014874.4(MFN2):c.749G>A (p.Arg250Gln) rs140234726 0.00019
NM_014874.4(MFN2):c.*226C>T rs184254413 0.00018
NM_014874.4(MFN2):c.175+9G>A rs373340717 0.00018
NM_014874.4(MFN2):c.2157G>A (p.Lys719=) rs148441213 0.00017
NM_014874.4(MFN2):c.444C>T (p.Thr148=) rs373038884 0.00017
NM_014874.4(MFN2):c.*1706T>G rs543365043 0.00016
NM_014874.4(MFN2):c.2069+16G>A rs376673392 0.00016
NM_014874.4(MFN2):c.971-16A>G rs374822911 0.00016
NM_014874.4(MFN2):c.*1794_*1796del rs540280019 0.00015
NM_014874.4(MFN2):c.1463A>G (p.Asn488Ser) rs147785658 0.00015
NM_014874.4(MFN2):c.1529G>A (p.Arg510Gln) rs376598131 0.00015
NM_014874.4(MFN2):c.*1276G>A rs766342161 0.00014
NM_014874.4(MFN2):c.-161G>A rs140094248 0.00014
NM_014874.4(MFN2):c.1287+13G>C rs543940912 0.00014
NM_014874.4(MFN2):c.474+4A>G rs141974160 0.00014
NM_014874.4(MFN2):c.842G>C (p.Cys281Ser) rs147136530 0.00014
NM_014874.4(MFN2):c.870C>T (p.Gly290=) rs368302487 0.00014
NM_014874.4(MFN2):c.*1153C>T rs542684406 0.00013
NM_014874.4(MFN2):c.1476C>A (p.Thr492=) rs143428548 0.00013
NM_014874.4(MFN2):c.*256G>A rs557772799 0.00012
NM_014874.4(MFN2):c.*26G>A rs374800481 0.00011
NM_014874.4(MFN2):c.1199G>A (p.Arg400Gln) rs138072432 0.00011
NM_014874.4(MFN2):c.1987C>T (p.Arg663Cys) rs369762154 0.00011
NM_014874.4(MFN2):c.*36G>A rs377468070 0.00010
NM_014874.4(MFN2):c.*813G>A rs771869272 0.00010
NM_014874.4(MFN2):c.1574A>G (p.Asn525Ser) rs145654854 0.00010
NM_014874.4(MFN2):c.2112C>T (p.Asp704=) rs374371748 0.00010
NM_014874.4(MFN2):c.1150C>T (p.Arg384Trp) rs777353788 0.00009
NM_014874.4(MFN2):c.175+14G>A rs202139103 0.00009
NM_014874.4(MFN2):c.1225G>C (p.Glu409Gln) rs370736142 0.00008
NM_014874.4(MFN2):c.160G>A (p.Ala54Thr) rs61733203 0.00008
NM_014874.4(MFN2):c.1779G>A (p.Ser593=) rs367623682 0.00008
NM_014874.4(MFN2):c.857T>C (p.Val286Ala) rs765825496 0.00008
NM_014874.4(MFN2):c.*1222G>A rs531732785 0.00007
NM_014874.4(MFN2):c.1617A>G (p.Glu539=) rs556515947 0.00007
NM_014874.4(MFN2):c.2130G>A (p.Leu710=) rs755608041 0.00007
NM_014874.4(MFN2):c.475-17C>A rs759684850 0.00007
NM_014874.4(MFN2):c.*1295G>A rs763783578 0.00005
NM_014874.4(MFN2):c.1460C>G (p.Thr487Ser) rs142110794 0.00005
NM_014874.4(MFN2):c.179C>T (p.Thr60Met) rs138345244 0.00005
NM_014874.4(MFN2):c.1968C>G (p.Ala656=) rs763381681 0.00005
NM_014874.4(MFN2):c.2204+12C>T rs373553143 0.00005
NM_014874.4(MFN2):c.2259G>A (p.Leu753=) rs1045537458 0.00005
NM_014874.4(MFN2):c.543G>A (p.Val181=) rs183226846 0.00005
NM_014874.4(MFN2):c.1160+19A>G rs371139883 0.00004
NM_014874.4(MFN2):c.1288-10T>C rs201151182 0.00004
NM_014874.4(MFN2):c.1451C>T (p.Thr484Met) rs375480365 0.00004
NM_014874.4(MFN2):c.176-7C>T rs374055101 0.00004
NM_014874.4(MFN2):c.2069+15C>T rs375924621 0.00004
NM_014874.4(MFN2):c.2070-11C>G rs759614417 0.00004
NM_014874.4(MFN2):c.58C>T (p.His20Tyr) rs201715603 0.00004
NM_014874.4(MFN2):c.647T>C (p.Phe216Ser) rs387906990 0.00004
NM_014874.4(MFN2):c.832A>G (p.Met278Val) rs529224795 0.00004
NM_014874.4(MFN2):c.887A>G (p.Gln296Arg) rs751685400 0.00004
NM_014874.4(MFN2):c.*1562G>A rs551566332 0.00003
NM_014874.4(MFN2):c.*1662T>C rs1020801224 0.00003
NM_014874.4(MFN2):c.1085C>T (p.Thr362Met) rs387906991 0.00003
NM_014874.4(MFN2):c.1108G>C (p.Glu370Gln) rs377402479 0.00003
NM_014874.4(MFN2):c.1113G>A (p.Ala371=) rs766570486 0.00003
NM_014874.4(MFN2):c.1146G>A (p.Ala382=) rs752630853 0.00003
NM_014874.4(MFN2):c.1181G>A (p.Arg394His) rs538243357 0.00003
NM_014874.4(MFN2):c.119A>G (p.Asn40Ser) rs1354203259 0.00003
NM_014874.4(MFN2):c.1269G>A (p.Thr423=) rs145994616 0.00003
NM_014874.4(MFN2):c.1528C>T (p.Arg510Trp) rs146092040 0.00003
NM_014874.4(MFN2):c.1612C>G (p.Gln538Glu) rs1027714006 0.00003
NM_014874.4(MFN2):c.1727C>T (p.Pro576Leu) rs756441388 0.00003
NM_014874.4(MFN2):c.1759C>T (p.Pro587Ser) rs771675874 0.00003
NM_014874.4(MFN2):c.1762C>T (p.Pro588Ser) rs771043011 0.00003
NM_014874.4(MFN2):c.1816G>A (p.Gly606Ser) rs149122641 0.00003
NM_014874.4(MFN2):c.1818C>T (p.Gly606=) rs373843969 0.00003
NM_014874.4(MFN2):c.1873-16A>T rs190961216 0.00003
NM_014874.4(MFN2):c.1976G>A (p.Arg659Lys) rs863224063 0.00003
NM_014874.4(MFN2):c.1988G>T (p.Arg663Leu) rs766735605 0.00003
NM_014874.4(MFN2):c.204C>T (p.Pro68=) rs148399574 0.00003
NM_014874.4(MFN2):c.2145C>T (p.Ala715=) rs571011689 0.00003
NM_014874.4(MFN2):c.2166G>C (p.Glu722Asp) rs764268203 0.00003
NM_014874.4(MFN2):c.2182C>A (p.Gln728Lys) rs761544980 0.00003
NM_014874.4(MFN2):c.2215G>A (p.Gly739Ser) rs1402367279 0.00003
NM_014874.4(MFN2):c.231C>T (p.Asp77=) rs763489927 0.00003
NM_014874.4(MFN2):c.33C>T (p.Ile11=) rs756450319 0.00003
NM_014874.4(MFN2):c.445G>A (p.Glu149Lys) rs754016178 0.00003
NM_014874.4(MFN2):c.522T>C (p.His174=) rs762789747 0.00003
NM_014874.4(MFN2):c.599+19C>T rs1460126334 0.00003
NM_014874.4(MFN2):c.765C>G (p.Ile255Met) rs376327713 0.00003
NM_014874.4(MFN2):c.821G>A (p.Arg274Gln) rs768407445 0.00003
NM_014874.4(MFN2):c.822G>A (p.Arg274=) rs528330690 0.00003
NM_014874.4(MFN2):c.933C>T (p.Asn311=) rs150857365 0.00003
NM_014874.4(MFN2):c.970+13A>G rs771746625 0.00003
NM_014874.4(MFN2):c.1061T>C (p.Val354Ala) rs1057518235 0.00002
NM_014874.4(MFN2):c.1112C>T (p.Ala371Val) rs201675158 0.00002
NM_014874.4(MFN2):c.1180C>T (p.Arg394Cys) rs186448929 0.00002
NM_014874.4(MFN2):c.1238A>C (p.Gln413Pro) rs375335641 0.00002
NM_014874.4(MFN2):c.1288-16C>T rs766048154 0.00002
NM_014874.4(MFN2):c.1402C>T (p.Arg468Cys) rs746852710 0.00002
NM_014874.4(MFN2):c.1480C>A (p.Gln494Lys) rs141775063 0.00002
NM_014874.4(MFN2):c.1522T>A (p.Ser508Thr) rs751397699 0.00002
NM_014874.4(MFN2):c.1836C>G (p.Ser612=) rs779401482 0.00002
NM_014874.4(MFN2):c.1873-4G>C rs369338141 0.00002
NM_014874.4(MFN2):c.187A>C (p.Asn63His) rs761216583 0.00002
NM_014874.4(MFN2):c.1895G>A (p.Arg632Gln) rs760375604 0.00002
NM_014874.4(MFN2):c.1908C>G (p.Leu636=) rs540183905 0.00002
NM_014874.4(MFN2):c.2016G>A (p.Lys672=) rs187058104 0.00002
NM_014874.4(MFN2):c.2070-20C>T rs776626503 0.00002
NM_014874.4(MFN2):c.2204+14G>A rs757577429 0.00002
NM_014874.4(MFN2):c.2270G>C (p.Arg757Thr) rs377146672 0.00002
NM_014874.4(MFN2):c.311+9T>C rs771439230 0.00002
NM_014874.4(MFN2):c.333C>T (p.Thr111=) rs376779568 0.00002
NM_014874.4(MFN2):c.334G>A (p.Val112Met) rs757937208 0.00002
NM_014874.4(MFN2):c.34G>A (p.Val12Ile) rs367715413 0.00002
NM_014874.4(MFN2):c.525C>T (p.Ala175=) rs751505990 0.00002
NM_014874.4(MFN2):c.538A>C (p.Ser180Arg) rs756851126 0.00002
NM_014874.4(MFN2):c.544A>G (p.Met182Val) rs1338701016 0.00002
NM_014874.4(MFN2):c.610G>A (p.Asp204Asn) rs781651055 0.00002
NM_014874.4(MFN2):c.645G>A (p.Lys215=) rs767693664 0.00002
NM_014874.4(MFN2):c.696C>G (p.Thr232=) rs769923700 0.00002
NM_014874.4(MFN2):c.723C>T (p.Phe241=) rs764912025 0.00002
NM_014874.4(MFN2):c.801C>T (p.Pro267=) rs201550384 0.00002
NM_014874.4(MFN2):c.809T>C (p.Met270Thr) rs771996573 0.00002
NM_014874.4(MFN2):c.820C>T (p.Arg274Trp) rs762440627 0.00002
NM_014874.4(MFN2):c.823C>T (p.Arg275Trp) rs368499636 0.00002
NM_014874.4(MFN2):c.876G>T (p.Val292=) rs758376405 0.00002
NM_014874.4(MFN2):c.*131G>A rs1639706861 0.00001
NM_014874.4(MFN2):c.*1902C>T rs933126234 0.00001
NM_014874.4(MFN2):c.*297T>A rs886045224 0.00001
NM_014874.4(MFN2):c.*57C>T rs886045221 0.00001
NM_014874.4(MFN2):c.*870C>T rs886045227 0.00001
NM_014874.4(MFN2):c.1038+17_1038+20dup rs1196023090 0.00001
NM_014874.4(MFN2):c.1039-20C>T rs1253046105 0.00001
NM_014874.4(MFN2):c.1064A>G (p.Lys355Arg) rs143747551 0.00001
NM_014874.4(MFN2):c.1065G>T (p.Lys355Asn) rs1639196950 0.00001
NM_014874.4(MFN2):c.1086G>A (p.Thr362=) rs749652300 0.00001
NM_014874.4(MFN2):c.1118G>A (p.Arg373Gln) rs142042485 0.00001
NM_014874.4(MFN2):c.113A>T (p.Lys38Met) rs1157741525 0.00001
NM_014874.4(MFN2):c.1145C>T (p.Ala382Val) rs201165591 0.00001
NM_014874.4(MFN2):c.1151G>A (p.Arg384Gln) rs565042936 0.00001
NM_014874.4(MFN2):c.1161-7C>T rs1414918598 0.00001
NM_014874.4(MFN2):c.1162G>A (p.Val388Ile) rs924011766 0.00001
NM_014874.4(MFN2):c.1170C>T (p.Cys390=) rs1639292680 0.00001
NM_014874.4(MFN2):c.1171G>A (p.Glu391Lys) rs756800190 0.00001
NM_014874.4(MFN2):c.117C>A (p.Ile39=) rs1288073943 0.00001
NM_014874.4(MFN2):c.1189C>T (p.Arg397Trp) rs758948968 0.00001
NM_014874.4(MFN2):c.1190G>A (p.Arg397Gln) rs778219078 0.00001
NM_014874.4(MFN2):c.1191G>A (p.Arg397=) rs758952131 0.00001
NM_014874.4(MFN2):c.1201C>T (p.Leu401=) rs547577445 0.00001
NM_014874.4(MFN2):c.1202T>G (p.Leu401Arg) rs1161492440 0.00001
NM_014874.4(MFN2):c.1208T>G (p.Phe403Cys) rs769905428 0.00001
NM_014874.4(MFN2):c.120T>C (p.Asn40=) rs756467977 0.00001
NM_014874.4(MFN2):c.1210A>G (p.Ile404Val) rs775483521 0.00001
NM_014874.4(MFN2):c.1228C>A (p.Leu410Ile) rs1254519410 0.00001
NM_014874.4(MFN2):c.1243T>C (p.Tyr415His) rs1163530430 0.00001
NM_014874.4(MFN2):c.1253G>A (p.Arg418Gln) rs766998571 0.00001
NM_014874.4(MFN2):c.1257T>G (p.Ile419Met) rs749893944 0.00001
NM_014874.4(MFN2):c.1267A>G (p.Thr423Ala) rs765921889 0.00001
NM_014874.4(MFN2):c.1271A>G (p.Glu424Gly) rs1557530247 0.00001
NM_014874.4(MFN2):c.1292C>T (p.Ser431Leu) rs764374251 0.00001
NM_014874.4(MFN2):c.1293G>T (p.Ser431=) rs751915674 0.00001
NM_014874.4(MFN2):c.1304C>G (p.Ala435Gly) rs1030984908 0.00001
NM_014874.4(MFN2):c.1305C>T (p.Ala435=) rs1374507919 0.00001
NM_014874.4(MFN2):c.1318C>T (p.Arg440Cys) rs756110507 0.00001
NM_014874.4(MFN2):c.1319G>A (p.Arg440His) rs958009351 0.00001
NM_014874.4(MFN2):c.1330C>T (p.Leu444=) rs1639318979 0.00001
NM_014874.4(MFN2):c.1338C>T (p.Asp446=) rs376300393 0.00001
NM_014874.4(MFN2):c.1339G>A (p.Asp447Asn) rs368032696 0.00001
NM_014874.4(MFN2):c.1357C>T (p.His453Tyr) rs140027579 0.00001
NM_014874.4(MFN2):c.1367C>T (p.Pro456Leu) rs78658090 0.00001
NM_014874.4(MFN2):c.1374C>G (p.Val458=) rs760253679 0.00001
NM_014874.4(MFN2):c.1392+20G>T rs1367301944 0.00001
NM_014874.4(MFN2):c.1393-14T>A rs779242620 0.00001
NM_014874.4(MFN2):c.1413G>A (p.Glu471=) rs745360979 0.00001
NM_014874.4(MFN2):c.1427G>A (p.Arg476Gln) rs1331318781 0.00001
NM_014874.4(MFN2):c.142G>A (p.Ala48Thr) rs766706650 0.00001
NM_014874.4(MFN2):c.1432A>G (p.Met478Val) rs953946892 0.00001
NM_014874.4(MFN2):c.1434G>A (p.Met478Ile) rs1209964847 0.00001
NM_014874.4(MFN2):c.1441C>T (p.Arg481Cys) rs762264240 0.00001
NM_014874.4(MFN2):c.1442G>A (p.Arg481His) rs767718891 0.00001
NM_014874.4(MFN2):c.1453G>A (p.Ala485Thr) rs1320374657 0.00001
NM_014874.4(MFN2):c.1454C>T (p.Ala485Val) rs1418195322 0.00001
NM_014874.4(MFN2):c.1470G>A (p.Leu490=) rs1639336153 0.00001
NM_014874.4(MFN2):c.147C>T (p.Tyr49=) rs755575773 0.00001
NM_014874.4(MFN2):c.1493T>C (p.Ile498Thr) rs781077681 0.00001
NM_014874.4(MFN2):c.1495+13G>A rs1410965456 0.00001
NM_014874.4(MFN2):c.1496-18C>T rs1639377395 0.00001
NM_014874.4(MFN2):c.1523C>G (p.Ser508Cys) rs138660745 0.00001
NM_014874.4(MFN2):c.1537A>G (p.Ile513Val) rs755657087 0.00001
NM_014874.4(MFN2):c.1556G>A (p.Arg519His) rs373809750 0.00001
NM_014874.4(MFN2):c.1564T>C (p.Phe522Leu) rs747397065 0.00001
NM_014874.4(MFN2):c.1605T>C (p.Ala535=) rs575884069 0.00001
NM_014874.4(MFN2):c.161C>T (p.Ala54Val) rs747176196 0.00001
NM_014874.4(MFN2):c.163A>T (p.Thr55Ser) rs776423551 0.00001
NM_014874.4(MFN2):c.1717-12T>G rs757942090 0.00001
NM_014874.4(MFN2):c.1717-15T>C rs752294693 0.00001
NM_014874.4(MFN2):c.1717-17C>T rs765243288 0.00001
NM_014874.4(MFN2):c.1717-5C>T rs1639425658 0.00001
NM_014874.4(MFN2):c.1724G>A (p.Arg575His) rs564375950 0.00001
NM_014874.4(MFN2):c.1729A>G (p.Ile577Val) rs749606728 0.00001
NM_014874.4(MFN2):c.175+12C>A rs186824858 0.00001
NM_014874.4(MFN2):c.175+5G>A rs530397368 0.00001
NM_014874.4(MFN2):c.175+8G>T rs1310322504 0.00001
NM_014874.4(MFN2):c.1750C>A (p.Pro584Thr) rs773308500 0.00001
NM_014874.4(MFN2):c.1758G>A (p.Met586Ile) rs1341015445 0.00001
NM_014874.4(MFN2):c.175G>T (p.Asp59Tyr) rs1311434220 0.00001
NM_014874.4(MFN2):c.176-4C>T rs546254672 0.00001
NM_014874.4(MFN2):c.1770A>G (p.Pro590=) rs776537176 0.00001
NM_014874.4(MFN2):c.1778C>T (p.Ser593Leu) rs759372833 0.00001
NM_014874.4(MFN2):c.1782C>T (p.Leu594=) rs950932066 0.00001
NM_014874.4(MFN2):c.1806C>T (p.Ser602=) rs201258935 0.00001
NM_014874.4(MFN2):c.180G>A (p.Thr60=) rs776601428 0.00001
NM_014874.4(MFN2):c.1815C>T (p.Thr605=) rs751029047 0.00001
NM_014874.4(MFN2):c.1819C>T (p.Leu607=) rs1639431336 0.00001
NM_014874.4(MFN2):c.1822G>A (p.Ala608Thr) rs1639431440 0.00001
NM_014874.4(MFN2):c.1824C>T (p.Ala608=) rs774988978 0.00001
NM_014874.4(MFN2):c.1858G>A (p.Val620Ile) rs200936779 0.00001
NM_014874.4(MFN2):c.1872+20C>T rs549245117 0.00001
NM_014874.4(MFN2):c.1873-14C>G rs770138133 0.00001
NM_014874.4(MFN2):c.1873-19C>T rs913333628 0.00001
NM_014874.4(MFN2):c.1909T>A (p.Ser637Thr) rs763185826 0.00001
NM_014874.4(MFN2):c.1918C>A (p.Leu640Ile) rs764683093 0.00001
NM_014874.4(MFN2):c.1922A>G (p.Tyr641Cys) rs866276988 0.00001
NM_014874.4(MFN2):c.1935C>T (p.Tyr645=) rs752881611 0.00001
NM_014874.4(MFN2):c.1938C>A (p.Val646=) rs1040702840 0.00001
NM_014874.4(MFN2):c.1946G>A (p.Arg649His) rs763492075 0.00001
NM_014874.4(MFN2):c.1950G>A (p.Leu650=) rs772030424 0.00001
NM_014874.4(MFN2):c.1951A>G (p.Thr651Ala) rs772756022 0.00001
NM_014874.4(MFN2):c.1952C>G (p.Thr651Ser) rs746502519 0.00001
NM_014874.4(MFN2):c.1971G>A (p.Lys657=) rs764308150 0.00001
NM_014874.4(MFN2):c.1975A>G (p.Arg659Gly) rs529286489 0.00001
NM_014874.4(MFN2):c.1978G>A (p.Ala660Thr) rs762292163 0.00001
NM_014874.4(MFN2):c.1979C>A (p.Ala660Asp) rs377090439 0.00001
NM_014874.4(MFN2):c.1981T>C (p.Phe661Leu) rs1204925465 0.00001
NM_014874.4(MFN2):c.1986G>A (p.Lys662=) rs1260208756 0.00001
NM_014874.4(MFN2):c.1989C>G (p.Arg663=) rs1479202884 0.00001
NM_014874.4(MFN2):c.1995T>G (p.Phe665Leu) rs755219120 0.00001
NM_014874.4(MFN2):c.2001G>A (p.Glu667=) rs2100858555 0.00001
NM_014874.4(MFN2):c.2010C>T (p.Ser670=) rs777640054 0.00001
NM_014874.4(MFN2):c.201C>T (p.Asp67=) rs1553141644 0.00001
NM_014874.4(MFN2):c.2020C>A (p.Gln674Lys) rs770361817 0.00001
NM_014874.4(MFN2):c.2021A>C (p.Gln674Pro) rs1410698026 0.00001
NM_014874.4(MFN2):c.2048A>G (p.Asn683Ser) rs762213417 0.00001
NM_014874.4(MFN2):c.2058C>T (p.His686=) rs1040857073 0.00001
NM_014874.4(MFN2):c.205G>A (p.Val69Ile) rs28940296 0.00001
NM_014874.4(MFN2):c.2060A>G (p.Gln687Arg) rs879253910 0.00001
NM_014874.4(MFN2):c.2069+10C>T rs1243140256 0.00001
NM_014874.4(MFN2):c.2069+9C>T rs760838540 0.00001
NM_014874.4(MFN2):c.2070-4C>G rs762750555 0.00001
NM_014874.4(MFN2):c.210C>T (p.Thr70=) rs1359317047 0.00001
NM_014874.4(MFN2):c.211A>G (p.Thr71Ala) rs548809273 0.00001
NM_014874.4(MFN2):c.2120G>A (p.Arg707Gln) rs375937289 0.00001
NM_014874.4(MFN2):c.2133G>T (p.Glu711Asp) rs1486405515 0.00001
NM_014874.4(MFN2):c.2147C>T (p.Ala716Val) rs771589792 0.00001
NM_014874.4(MFN2):c.2151G>A (p.Met717Ile) rs1639602553 0.00001
NM_014874.4(MFN2):c.2158A>G (p.Lys720Glu) rs1450205264 0.00001
NM_014874.4(MFN2):c.2162T>C (p.Ile721Thr) rs150946795 0.00001
NM_014874.4(MFN2):c.2185A>G (p.Ser729Gly) rs1274191966 0.00001
NM_014874.4(MFN2):c.2195A>G (p.Lys732Arg) rs767383693 0.00001
NM_014874.4(MFN2):c.2204+10G>T rs1445631790 0.00001
NM_014874.4(MFN2):c.2204+13C>T rs200441797 0.00001
NM_014874.4(MFN2):c.2204+19G>C rs770198532 0.00001
NM_014874.4(MFN2):c.2221T>G (p.Leu741Val) rs1060501917 0.00001
NM_014874.4(MFN2):c.2253G>A (p.Gln751=) rs948203067 0.00001
NM_014874.4(MFN2):c.2256C>T (p.Tyr752=) rs863224968 0.00001
NM_014874.4(MFN2):c.2258dup (p.Gln754fs) rs773371488 0.00001
NM_014874.4(MFN2):c.227T>G (p.Leu76Arg) rs28940293 0.00001
NM_014874.4(MFN2):c.232G>A (p.Val78Ile) rs764695837 0.00001
NM_014874.4(MFN2):c.236A>G (p.Lys79Arg) rs1262941514 0.00001
NM_014874.4(MFN2):c.244C>T (p.Leu82=) rs1194973053 0.00001
NM_014874.4(MFN2):c.24C>G (p.Cys8Trp) rs752363939 0.00001
NM_014874.4(MFN2):c.271_274del (p.Val91fs) rs1638739623 0.00001
NM_014874.4(MFN2):c.311+7C>G rs778692193 0.00001
NM_014874.4(MFN2):c.311+8C>T rs747730092 0.00001
NM_014874.4(MFN2):c.312-18G>A rs1185043219 0.00001
NM_014874.4(MFN2):c.312-19A>G rs756393202 0.00001
NM_014874.4(MFN2):c.315G>A (p.Thr105=) rs75138257 0.00001
NM_014874.4(MFN2):c.31A>G (p.Ile11Val) rs763735861 0.00001
NM_014874.4(MFN2):c.32T>C (p.Ile11Thr) rs777625403 0.00001
NM_014874.4(MFN2):c.393T>C (p.Asn131=) rs938784116 0.00001
NM_014874.4(MFN2):c.395G>A (p.Cys132Tyr) rs1569830013 0.00001
NM_014874.4(MFN2):c.399C>T (p.Phe133=) rs749714655 0.00001
NM_014874.4(MFN2):c.404G>A (p.Arg135Gln) rs1443036026 0.00001
NM_014874.4(MFN2):c.415A>G (p.Thr139Ala) rs1349977366 0.00001
NM_014874.4(MFN2):c.46A>C (p.Lys16Gln) rs748233037 0.00001
NM_014874.4(MFN2):c.49A>G (p.Asn17Asp) rs772477199 0.00001
NM_014874.4(MFN2):c.541G>A (p.Val181Met) rs863224064 0.00001
NM_014874.4(MFN2):c.558T>C (p.Ser186=) rs1280915201 0.00001
NM_014874.4(MFN2):c.558dup (p.Lys187Ter) rs772732232 0.00001
NM_014874.4(MFN2):c.582C>T (p.Asp194=) rs772441576 0.00001
NM_014874.4(MFN2):c.585C>T (p.Leu195=) rs200719689 0.00001
NM_014874.4(MFN2):c.600-14C>T rs1199726906 0.00001
NM_014874.4(MFN2):c.600-7C>T rs1173229373 0.00001
NM_014874.4(MFN2):c.608T>C (p.Ile203Thr) rs200715905 0.00001
NM_014874.4(MFN2):c.693C>T (p.Ser231=) rs774356643 0.00001
NM_014874.4(MFN2):c.708+10C>T rs1639049020 0.00001
NM_014874.4(MFN2):c.709-19G>A rs1639053304 0.00001
NM_014874.4(MFN2):c.709-9T>C rs776259256 0.00001
NM_014874.4(MFN2):c.721T>C (p.Phe241Leu) rs879253924 0.00001
NM_014874.4(MFN2):c.725A>G (p.His242Arg) rs863224065 0.00001
NM_014874.4(MFN2):c.739C>T (p.Arg247Cys) rs369948853 0.00001
NM_014874.4(MFN2):c.740G>A (p.Arg247His) rs762189054 0.00001
NM_014874.4(MFN2):c.747C>T (p.Ser249=) rs1297298356 0.00001
NM_014874.4(MFN2):c.748C>T (p.Arg250Trp) rs373107074 0.00001
NM_014874.4(MFN2):c.776G>A (p.Arg259His) rs755065651 0.00001
NM_014874.4(MFN2):c.78A>G (p.Ala26=) rs764662159 0.00001
NM_014874.4(MFN2):c.816+4C>T rs374018931 0.00001
NM_014874.4(MFN2):c.816+5G>A rs770949123 0.00001
NM_014874.4(MFN2):c.817-14T>G rs1255550586 0.00001
NM_014874.4(MFN2):c.817-7G>A rs769298272 0.00001
NM_014874.4(MFN2):c.824G>A (p.Arg275Gln) rs560470663 0.00001
NM_014874.4(MFN2):c.84A>C (p.Pro28=) rs554067157 0.00001
NM_014874.4(MFN2):c.852C>T (p.Phe284=) rs1420158447 0.00001
NM_014874.4(MFN2):c.899G>A (p.Arg300His) rs1226075443 0.00001
NM_014874.4(MFN2):c.912G>A (p.Val304=) rs756104949 0.00001
NM_014874.4(MFN2):c.925G>A (p.Val309Met) rs1341422306 0.00001
NM_014874.4(MFN2):c.932A>G (p.Asn311Ser) rs748838916 0.00001
NM_014874.4(MFN2):c.945G>A (p.Gln315=) rs1569852176 0.00001
NM_014874.4(MFN2):c.946A>G (p.Lys316Glu) rs1424551887 0.00001
NM_014874.4(MFN2):c.963T>G (p.Pro321=) rs1464024708 0.00001
NM_014874.4(MFN2):c.971-4C>G rs1639186081 0.00001
NM_014874.4(MFN2):c.971-5C>T rs749120321 0.00001
NM_014874.4(MFN2):c.976G>A (p.Ala326Thr) rs1324564667 0.00001
NM_014874.4(MFN2):c.977C>T (p.Ala326Val) rs778350613 0.00001
NM_014874.4(MFN2):c.982G>A (p.Ala328Thr) rs771900151 0.00001
NC_000001.10:g.(?_12049226)_(12059172_?)del
NC_000001.10:g.(?_12049226)_(12065004_?)del
NC_000001.10:g.(?_12052592)_(12052767_?)dup
NC_000001.10:g.(?_12052592)_(12057498_?)dup
NC_000001.10:g.(?_12052592)_(12071622_?)dup
NC_000001.10:g.(?_12052602)_(12057488_?)dup
NC_000001.10:g.(?_12056193)_(12056395_?)del
NC_000001.10:g.(?_12057334)_(12059172_?)del
NC_000001.10:g.(?_12058807)_(12059172_?)del
NC_000001.10:g.(?_12058807)_(12059172_?)dup
NC_000001.10:g.(?_12058817)_(12059162_?)del
NC_000001.10:g.(?_12060714)_(12067233_?)del
NC_000001.10:g.(?_12064039)_(12069793_?)dup
NC_000001.10:g.(?_12069639)_(12069793_?)del
NC_000001.10:g.(?_12071543)_(12071632_?)dup
NC_000001.11:g.12001772del rs1286723655
NC_000001.11:g.12001772dup rs1286723655
NM_014874.3(MFN2):c.-217C>A rs886045218
NM_014874.3(MFN2):c.600-?_816+?del
NM_014874.4(MFN2):c.*1068C>T rs886045229
NM_014874.4(MFN2):c.*121A>G rs886045222
NM_014874.4(MFN2):c.*1258G>A rs116156978
NM_014874.4(MFN2):c.*1392A>G rs886045230
NM_014874.4(MFN2):c.*1640del rs35943162
NM_014874.4(MFN2):c.*1640dup rs35943162
NM_014874.4(MFN2):c.*1763G>A rs1639769422
NM_014874.4(MFN2):c.*1797GTT[1] rs140537612
NM_014874.4(MFN2):c.*221_*222dup rs558848411
NM_014874.4(MFN2):c.*381C>A rs966318629
NM_014874.4(MFN2):c.*610del rs747291228
NM_014874.4(MFN2):c.*864T>C rs886045226
NM_014874.4(MFN2):c.*935G>T rs886045228
NM_014874.4(MFN2):c.-80C>T rs7538183
NM_014874.4(MFN2):c.1002G>A (p.Arg334=) rs1410500132
NM_014874.4(MFN2):c.1003A>G (p.Met335Val) rs1557527886
NM_014874.4(MFN2):c.1017G>A (p.Gln339=) rs2100840368
NM_014874.4(MFN2):c.1024G>C (p.Glu342Gln) rs1557527906
NM_014874.4(MFN2):c.1029G>A (p.Arg343=)
NM_014874.4(MFN2):c.1036G>T (p.Glu346Ter) rs2523057920
NM_014874.4(MFN2):c.1038+16C>G rs2100840444
NM_014874.4(MFN2):c.1038+7C>T rs1639188986
NM_014874.4(MFN2):c.1039-11G>C rs777588423
NM_014874.4(MFN2):c.1039-12T>C rs2523059673
NM_014874.4(MFN2):c.1039-12TG[2] rs780237550
NM_014874.4(MFN2):c.1039-15C>T rs1462549695
NM_014874.4(MFN2):c.1039-16C>T rs369651423
NM_014874.4(MFN2):c.1039-19G>T rs74052923
NM_014874.4(MFN2):c.1039-9G>T rs1569853844
NM_014874.4(MFN2):c.1042T>C (p.Cys348Arg) rs1639195979
NM_014874.4(MFN2):c.1043G>A (p.Cys348Tyr)
NM_014874.4(MFN2):c.1047C>T (p.Ile349=) rs2100840933
NM_014874.4(MFN2):c.1061T>G (p.Val354Gly) rs1057518235
NM_014874.4(MFN2):c.1064_1066del (p.Lys355del) rs1569853941
NM_014874.4(MFN2):c.1067C>A (p.Thr356Asn) rs1569853976
NM_014874.4(MFN2):c.1067C>G (p.Thr356Ser) rs1569853976
NM_014874.4(MFN2):c.1070A>C (p.Lys357Thr) rs2100841033
NM_014874.4(MFN2):c.1071G>C (p.Lys357Asn) rs119103261
NM_014874.4(MFN2):c.1078C>G (p.Gln360Glu) rs1064795818
NM_014874.4(MFN2):c.107AGA[2] (p.Lys38del) rs1478175861
NM_014874.4(MFN2):c.1081C>T (p.His361Tyr) rs1569854012
NM_014874.4(MFN2):c.1082A>C (p.His361Pro) rs1064793170
NM_014874.4(MFN2):c.1083C>G (p.His361Gln) rs1639197832
NM_014874.4(MFN2):c.1084A>C (p.Thr362Pro) rs879254176
NM_014874.4(MFN2):c.1085C>G (p.Thr362Arg) rs387906991
NM_014874.4(MFN2):c.1086G>C (p.Thr362=) rs749652300
NM_014874.4(MFN2):c.1090C>A (p.Arg364=) rs119103265
NM_014874.4(MFN2):c.1090C>T (p.Arg364Trp) rs119103265
NM_014874.4(MFN2):c.1091G>A (p.Arg364Gln) rs879254011
NM_014874.4(MFN2):c.1091G>C (p.Arg364Pro) rs879254011
NM_014874.4(MFN2):c.1091G>T (p.Arg364Leu) rs879254011
NM_014874.4(MFN2):c.1094C>T (p.Ala365Val) rs868500000
NM_014874.4(MFN2):c.10C>T (p.Leu4Phe) rs764758724
NM_014874.4(MFN2):c.1100A>C (p.Gln367Pro) rs1639199557
NM_014874.4(MFN2):c.1102A>G (p.Ile368Val) rs2523060571
NM_014874.4(MFN2):c.1113G>C (p.Ala371=) rs766570486
NM_014874.4(MFN2):c.1113G>T (p.Ala371=) rs766570486
NM_014874.4(MFN2):c.1117C>T (p.Arg373Ter) rs1639200820
NM_014874.4(MFN2):c.1121T>G (p.Leu374Arg) rs1423799732
NM_014874.4(MFN2):c.1126A>G (p.Met376Val) rs863224967
NM_014874.4(MFN2):c.1127T>C (p.Met376Thr) rs1569854342
NM_014874.4(MFN2):c.1127T>G (p.Met376Arg) rs1569854342
NM_014874.4(MFN2):c.1136T>C (p.Leu379Pro) rs1064797107
NM_014874.4(MFN2):c.1137G>A (p.Leu379=) rs2523060911
NM_014874.4(MFN2):c.1140C>T (p.His380=) rs1419651884
NM_014874.4(MFN2):c.1141A>G (p.Met381Val) rs762210837
NM_014874.4(MFN2):c.1141A>T (p.Met381Leu) rs762210837
NM_014874.4(MFN2):c.1144G>C (p.Ala382Pro) rs1553144066
NM_014874.4(MFN2):c.1148C>T (p.Ala383Val) rs794727035
NM_014874.4(MFN2):c.1150C>G (p.Arg384Gly) rs777353788
NM_014874.4(MFN2):c.1151G>C (p.Arg384Pro) rs565042936
NM_014874.4(MFN2):c.1156C>T (p.Gln386Ter) rs2523061214
NM_014874.4(MFN2):c.1158G>A (p.Gln386=)
NM_014874.4(MFN2):c.1160+10C>T rs1297411793
NM_014874.4(MFN2):c.1160+16T>G rs2523061368
NM_014874.4(MFN2):c.1160+1G>A rs1553144086
NM_014874.4(MFN2):c.1161-16A>T rs2523072063
NM_014874.4(MFN2):c.1161-17C>T rs764109323
NM_014874.4(MFN2):c.1161-45_1161-14del rs2100846924
NM_014874.4(MFN2):c.1161G>C (p.Gln387His) rs2100847056
NM_014874.4(MFN2):c.1161G>T (p.Gln387His) rs2100847056
NM_014874.4(MFN2):c.1168T>C (p.Cys390Arg) rs1569859647
NM_014874.4(MFN2):c.1182T>G (p.Arg394=) rs1248315714
NM_014874.4(MFN2):c.118A>C (p.Asn40His) rs1026123951
NM_014874.4(MFN2):c.118A>G (p.Asn40Asp) rs1026123951
NM_014874.4(MFN2):c.1194A>G (p.Gln398=) rs555006809
NM_014874.4(MFN2):c.1198C>T (p.Arg400Ter) rs879253939
NM_014874.4(MFN2):c.1215C>T (p.Asp405=) rs2523072922
NM_014874.4(MFN2):c.1220A>G (p.Gln407Arg) rs1639295881
NM_014874.4(MFN2):c.1221G>T (p.Gln407His) rs1279266159
NM_014874.4(MFN2):c.122G>A (p.Gly41Asp) rs2100802868
NM_014874.4(MFN2):c.1236T>C (p.Ala412=) rs2100847372
NM_014874.4(MFN2):c.1241A>C (p.Asp414Ala)
NM_014874.4(MFN2):c.1241A>T (p.Asp414Val) rs1569860081
NM_014874.4(MFN2):c.1244A>G (p.Tyr415Cys) rs1278360900
NM_014874.4(MFN2):c.1247A>T (p.Lys416Met) rs1639297626
NM_014874.4(MFN2):c.1251G>T (p.Leu417=) rs1291955409
NM_014874.4(MFN2):c.1252C>G (p.Arg418Gly) rs1057517987
NM_014874.4(MFN2):c.1252C>T (p.Arg418Ter) rs1057517987
NM_014874.4(MFN2):c.1253G>T (p.Arg418Leu) rs766998571
NM_014874.4(MFN2):c.1268C>T (p.Thr423Met) rs8192303
NM_014874.4(MFN2):c.1284G>T (p.Arg428Ser) rs2100847602
NM_014874.4(MFN2):c.1287+10GAG[2] rs767607294
NM_014874.4(MFN2):c.1287+19G>A rs994622836
NM_014874.4(MFN2):c.1287+1G>C rs1639299226
NM_014874.4(MFN2):c.1287+4A>G rs1162804216
NM_014874.4(MFN2):c.1287+6A>G rs778274550
NM_014874.4(MFN2):c.1288-15T>C
NM_014874.4(MFN2):c.1288-4G>A rs1167841408
NM_014874.4(MFN2):c.1288-5T>C rs763320321
NM_014874.4(MFN2):c.1288G>A (p.Val430Met) rs2523076682
NM_014874.4(MFN2):c.1292C>A (p.Ser431Ter) rs764374251
NM_014874.4(MFN2):c.1293G>A (p.Ser431=) rs751915674
NM_014874.4(MFN2):c.1296T>C (p.Thr432=) rs2100848678
NM_014874.4(MFN2):c.1301T>A (p.Met434Lys) rs2523076811
NM_014874.4(MFN2):c.1306G>A (p.Glu436Lys) rs1011639786
NM_014874.4(MFN2):c.1306GAG[1] (p.Glu437del) rs766213721
NM_014874.4(MFN2):c.130G>C (p.Glu44Gln)
NM_014874.4(MFN2):c.1319G>T (p.Arg440Leu)
NM_014874.4(MFN2):c.1320C>G (p.Arg440=)
NM_014874.4(MFN2):c.1322T>C (p.Leu441Pro) rs1557530701
NM_014874.4(MFN2):c.1327G>A (p.Val443Ile) rs780450613
NM_014874.4(MFN2):c.1327G>C (p.Val443Leu) rs780450613
NM_014874.4(MFN2):c.1330C>G (p.Leu444Val) rs1639318979
NM_014874.4(MFN2):c.1331T>C (p.Leu444Pro) rs1569861490
NM_014874.4(MFN2):c.1332G>A (p.Leu444=) rs142848213
NM_014874.4(MFN2):c.1332G>T (p.Leu444=) rs142848213
NM_014874.4(MFN2):c.1333G>A (p.Val445Met) rs1639319467
NM_014874.4(MFN2):c.1340A>G (p.Asp447Gly)
NM_014874.4(MFN2):c.1341T>C (p.Asp447=) rs778905813
NM_014874.4(MFN2):c.1344C>T (p.Tyr448=) rs2100848957
NM_014874.4(MFN2):c.1356C>T (p.Phe452=) rs1639320282
NM_014874.4(MFN2):c.1360C>A (p.Pro454Thr) rs921986690
NM_014874.4(MFN2):c.1375C>T (p.Leu459Phe) rs1639321356
NM_014874.4(MFN2):c.1380G>A (p.Lys460=) rs776267944
NM_014874.4(MFN2):c.1385A>G (p.Tyr462Cys) rs2100849130
NM_014874.4(MFN2):c.1391A>T (p.Asn464Ile) rs2523077743
NM_014874.4(MFN2):c.1392+12A>G rs2523077881
NM_014874.4(MFN2):c.1392+3G>A rs2523077803
NM_014874.4(MFN2):c.1392+7C>A rs759251276
NM_014874.4(MFN2):c.1393-12_1393-11insA rs2523079550
NM_014874.4(MFN2):c.1393-4G>T rs1639331021
NM_014874.4(MFN2):c.1393-7G>A rs906719272
NM_014874.4(MFN2):c.1406A>G (p.His469Arg) rs2523079978
NM_014874.4(MFN2):c.140G>C (p.Gly47Ala) rs1263406133
NM_014874.4(MFN2):c.1424G>A (p.Gly475Asp) rs774967287
NM_014874.4(MFN2):c.1433T>C (p.Met478Thr) rs2523080238
NM_014874.4(MFN2):c.1436C>G (p.Ser479Cys) rs1639333679
NM_014874.4(MFN2):c.1445G>A (p.Cys482Tyr)
NM_014874.4(MFN2):c.1447T>C (p.Ser483Pro) rs1639334188
NM_014874.4(MFN2):c.1448C>T (p.Ser483Phe) rs2523080385
NM_014874.4(MFN2):c.1455C>T (p.Ala485=) rs766967467
NM_014874.4(MFN2):c.145T>G (p.Tyr49Asp) rs2100802936
NM_014874.4(MFN2):c.1464C>T (p.Asn488=) rs1459334754
NM_014874.4(MFN2):c.1468C>T (p.Leu490=) rs1569862709
NM_014874.4(MFN2):c.1476C>T (p.Thr492=) rs143428548
NM_014874.4(MFN2):c.1477A>C (p.Met493Leu)
NM_014874.4(MFN2):c.1482G>C (p.Gln494His)
NM_014874.4(MFN2):c.1488C>T (p.Asp496=) rs746806455
NM_014874.4(MFN2):c.1489A>G (p.Met497Val) rs2100850292
NM_014874.4(MFN2):c.1495+10del rs754692803
NM_014874.4(MFN2):c.1495+15_1495+16del rs2100850386
NM_014874.4(MFN2):c.1495+3_1495+6dup rs2100850333
NM_014874.4(MFN2):c.1495+8C>A rs775224412
NM_014874.4(MFN2):c.1496-2A>G rs1483207355
NM_014874.4(MFN2):c.1496-3C>T
NM_014874.4(MFN2):c.1496-8C>G rs1639377731
NM_014874.4(MFN2):c.1496A>T (p.Asp499Val) rs1639378035
NM_014874.4(MFN2):c.1498G>A (p.Gly500Ser) rs1639378150
NM_014874.4(MFN2):c.1502T>C (p.Leu501Ser) rs2523086773
NM_014874.4(MFN2):c.1511T>C (p.Leu504Pro) rs1553145023
NM_014874.4(MFN2):c.1512C>T (p.Leu504=)
NM_014874.4(MFN2):c.1516C>T (p.Pro506Ser) rs1639378969
NM_014874.4(MFN2):c.1525G>A (p.Val509Met) rs945014959
NM_014874.4(MFN2):c.1525G>T (p.Val509Leu) rs945014959
NM_014874.4(MFN2):c.1535A>G (p.Gln512Arg) rs2100852773
NM_014874.4(MFN2):c.1538T>C (p.Ile513Thr)
NM_014874.4(MFN2):c.1538_1541del (p.Ile513fs) rs2100852782
NM_014874.4(MFN2):c.153G>T (p.Gln51His) rs886045219
NM_014874.4(MFN2):c.1551C>T (p.Val517=) rs2523087307
NM_014874.4(MFN2):c.1555C>T (p.Arg519Cys) rs369140232
NM_014874.4(MFN2):c.1570C>T (p.Leu524Phe) rs866494871
NM_014874.4(MFN2):c.1573A>G (p.Asn525Asp) rs2523087565
NM_014874.4(MFN2):c.1574A>C (p.Asn525Thr)
NM_014874.4(MFN2):c.1582C>T (p.Leu528=) rs2523087646
NM_014874.4(MFN2):c.1588T>C (p.Cys530Arg) rs2523087707
NM_014874.4(MFN2):c.1590_1591del (p.Cys530_Asp531delinsTer) rs2100853005
NM_014874.4(MFN2):c.1598T>C (p.Leu533Pro) rs1639382803
NM_014874.4(MFN2):c.1601G>A (p.Cys534Tyr) rs2523087839
NM_014874.4(MFN2):c.1606del (p.Asp536fs) rs2100853065
NM_014874.4(MFN2):c.1612del (p.Gln538fs) rs1569865516
NM_014874.4(MFN2):c.1621A>G (p.Ile541Val) rs1639383535
NM_014874.4(MFN2):c.1625A>C (p.Glu542Ala) rs887870089
NM_014874.4(MFN2):c.1629C>G (p.Phe543Leu) rs2100853178
NM_014874.4(MFN2):c.1631A>G (p.His544Arg) rs1639384043
NM_014874.4(MFN2):c.168C>T (p.Phe56=) rs769831339
NM_014874.4(MFN2):c.1717-19C>G
NM_014874.4(MFN2):c.1717-8C>G rs2523093872
NM_014874.4(MFN2):c.1717-9_1717-6del rs746359726
NM_014874.4(MFN2):c.1717G>A (p.Val573Ile) rs370335693
NM_014874.4(MFN2):c.1717G>C (p.Val573Leu) rs370335693
NM_014874.4(MFN2):c.171T>C (p.Leu57=) rs1443899568
NM_014874.4(MFN2):c.1723C>T (p.Arg575Cys) rs786204244
NM_014874.4(MFN2):c.1731C>T (p.Ile577=)
NM_014874.4(MFN2):c.1739C>T (p.Thr580Met) rs150304304
NM_014874.4(MFN2):c.175+13C>T rs1457407317
NM_014874.4(MFN2):c.175+6G>T rs762489839
NM_014874.4(MFN2):c.1753A>C (p.Ser585Arg) rs1639427922
NM_014874.4(MFN2):c.1755C>G (p.Ser585Arg) rs1335576013
NM_014874.4(MFN2):c.1759C>A (p.Pro587Thr) rs771675874
NM_014874.4(MFN2):c.176-14A>G rs2100812425
NM_014874.4(MFN2):c.176-15A>G rs2100812418
NM_014874.4(MFN2):c.176-16C>T rs1236200141
NM_014874.4(MFN2):c.176-19T>G rs1638733188
NM_014874.4(MFN2):c.176-3C>T rs975369655
NM_014874.4(MFN2):c.176-4C>G rs546254672
NM_014874.4(MFN2):c.176-8A>C rs1189123888
NM_014874.4(MFN2):c.1763C>T (p.Pro588Leu) rs1639428648
NM_014874.4(MFN2):c.1771C>T (p.Gln591Ter) rs2523094644
NM_014874.4(MFN2):c.1772_1773del (p.Gln591fs) rs1569868729
NM_014874.4(MFN2):c.1775G>A (p.Gly592Asp) rs2523094705
NM_014874.4(MFN2):c.1777T>A (p.Ser593Thr) rs1639429397
NM_014874.4(MFN2):c.1780C>A (p.Leu594Ile) rs1280803045
NM_014874.4(MFN2):c.1782C>A (p.Leu594=) rs950932066
NM_014874.4(MFN2):c.1789G>T (p.Glu597Ter) rs2100856157
NM_014874.4(MFN2):c.1807A>G (p.Met603Val) rs2523095004
NM_014874.4(MFN2):c.1808T>C (p.Met603Thr)
NM_014874.4(MFN2):c.180G>T (p.Thr60=)
NM_014874.4(MFN2):c.1810G>A (p.Val604Ile) rs1553145384
NM_014874.4(MFN2):c.1811T>C (p.Val604Ala)
NM_014874.4(MFN2):c.1822G>T (p.Ala608Ser)
NM_014874.4(MFN2):c.1823C>T (p.Ala608Val) rs1060501924
NM_014874.4(MFN2):c.1830G>A (p.Leu610=) rs1639431856
NM_014874.4(MFN2):c.1833A>T (p.Thr611=) rs2100856355
NM_014874.4(MFN2):c.1834T>A (p.Ser612Thr) rs2100856360
NM_014874.4(MFN2):c.183C>T (p.Tyr61=) rs1638734576
NM_014874.4(MFN2):c.1846A>G (p.Met616Val) rs753132224
NM_014874.4(MFN2):c.1846A>T (p.Met616Leu) rs753132224
NM_014874.4(MFN2):c.1847T>C (p.Met616Thr) rs2523095418
NM_014874.4(MFN2):c.1850G>A (p.Gly617Asp)
NM_014874.4(MFN2):c.1854del (p.Val620fs) rs2523095452
NM_014874.4(MFN2):c.1856TTG[2] (p.Val621del) rs1557533412
NM_014874.4(MFN2):c.1858G>C (p.Val620Leu) rs200936779
NM_014874.4(MFN2):c.1859T>C (p.Val620Ala) rs2523095553
NM_014874.4(MFN2):c.1861G>A (p.Val621Ile) rs1639433425
NM_014874.4(MFN2):c.1862T>C (p.Val621Ala) rs2523095577
NM_014874.4(MFN2):c.1872+13T>G rs2523095719
NM_014874.4(MFN2):c.1872+17G>T
NM_014874.4(MFN2):c.1872+5G>A rs2523095657
NM_014874.4(MFN2):c.1873-13A>C rs780054024
NM_014874.4(MFN2):c.1879A>G (p.Lys627Glu) rs1163976600
NM_014874.4(MFN2):c.1884A>G (p.Ala628=) rs2100857953
NM_014874.4(MFN2):c.1890C>G (p.Gly630=)
NM_014874.4(MFN2):c.1892G>A (p.Trp631Ter) rs2523099344
NM_014874.4(MFN2):c.1894C>T (p.Arg632Trp) rs772701127
NM_014874.4(MFN2):c.189T>C (p.Asn63=) rs2100812512
NM_014874.4(MFN2):c.1909T>G (p.Ser637Ala) rs763185826
NM_014874.4(MFN2):c.190G>A (p.Ala64Thr) rs922058129
NM_014874.4(MFN2):c.1910C>T (p.Ser637Phe) rs1569870801
NM_014874.4(MFN2):c.1915G>C (p.Gly639Arg) rs2100858120
NM_014874.4(MFN2):c.1918C>T (p.Leu640Phe) rs764683093
NM_014874.4(MFN2):c.1920C>G (p.Leu640=) rs141468012
NM_014874.4(MFN2):c.1920C>T (p.Leu640=) rs141468012
NM_014874.4(MFN2):c.1921T>G (p.Tyr641Asp) rs1569870930
NM_014874.4(MFN2):c.1927CTC[1] (p.Leu644del) rs2100858186
NM_014874.4(MFN2):c.1931T>G (p.Leu644Arg)
NM_014874.4(MFN2):c.1932C>T (p.Leu644=) rs780395516
NM_014874.4(MFN2):c.1936G>A (p.Val646Ile) rs754683866
NM_014874.4(MFN2):c.1936G>C (p.Val646Leu) rs754683866
NM_014874.4(MFN2):c.1938C>T (p.Val646=) rs1040702840
NM_014874.4(MFN2):c.195A>C (p.Glu65Asp) rs1297357606
NM_014874.4(MFN2):c.1966G>A (p.Ala656Thr) rs2523100349
NM_014874.4(MFN2):c.1974G>C (p.Glu658Asp) rs2100858415
NM_014874.4(MFN2):c.1979C>T (p.Ala660Val) rs377090439
NM_014874.4(MFN2):c.1980C>T (p.Ala660=) rs2100858469
NM_014874.4(MFN2):c.1988G>A (p.Arg663His) rs766735605
NM_014874.4(MFN2):c.1988G>C (p.Arg663Pro) rs766735605
NM_014874.4(MFN2):c.1991A>T (p.Gln664Leu)
NM_014874.4(MFN2):c.19C>T (p.Arg7Ter) rs1557515779
NM_014874.4(MFN2):c.2003A>G (p.His668Arg) rs747947098
NM_014874.4(MFN2):c.2016G>C (p.Lys672Asn) rs187058104
NM_014874.4(MFN2):c.2017C>A (p.Leu673Met) rs2100858641
NM_014874.4(MFN2):c.2018T>C (p.Leu673Pro) rs1569871653
NM_014874.4(MFN2):c.2028C>T (p.Val676=) rs780836559
NM_014874.4(MFN2):c.2031C>T (p.Ile677=) rs1006353708
NM_014874.4(MFN2):c.2037C>G (p.Tyr679Ter) rs1569871830
NM_014874.4(MFN2):c.2042G>C (p.Gly681Ala) rs1639463734
NM_014874.4(MFN2):c.2051G>T (p.Cys684Phe)
NM_014874.4(MFN2):c.2052C>T (p.Cys684=)
NM_014874.4(MFN2):c.2054_2069+1171del
NM_014874.4(MFN2):c.2055CCA[1] (p.His686del) rs2523101252
NM_014874.4(MFN2):c.2068C>G (p.Gln690Glu) rs1218249174
NM_014874.4(MFN2):c.2069+13G>C rs766629075
NM_014874.4(MFN2):c.2069+15C>G rs375924621
NM_014874.4(MFN2):c.2069+18A>G rs551549595
NM_014874.4(MFN2):c.2069+20C>A rs1047999570
NM_014874.4(MFN2):c.2069+4A>G rs2100858892
NM_014874.4(MFN2):c.2069+5G>A
NM_014874.4(MFN2):c.2070-11C>T rs759614417
NM_014874.4(MFN2):c.2070-14T>C rs2523121753
NM_014874.4(MFN2):c.2070-16T>C rs1639597286
NM_014874.4(MFN2):c.2070-16TC[5] rs2523121725
NM_014874.4(MFN2):c.2070-4C>T
NM_014874.4(MFN2):c.2070-6C>A rs752898934
NM_014874.4(MFN2):c.2070-7_2070-5del rs2523121801
NM_014874.4(MFN2):c.2070-8C>G rs1321940926
NM_014874.4(MFN2):c.2070-8C>T rs1321940926
NM_014874.4(MFN2):c.207T>C (p.Val69=) rs759973329
NM_014874.4(MFN2):c.2092del (p.His698fs) rs1569882539
NM_014874.4(MFN2):c.2093A>T (p.His698Leu) rs1060501916
NM_014874.4(MFN2):c.2096_2101del (p.Leu699_Cys700del) rs2100868068
NM_014874.4(MFN2):c.20G>T (p.Arg7Leu) rs1296772735
NM_014874.4(MFN2):c.2108T>C (p.Val703Ala) rs879253944
NM_014874.4(MFN2):c.2113G>T (p.Val705Phe)
NM_014874.4(MFN2):c.2114T>A (p.Val705Asp)
NM_014874.4(MFN2):c.2118C>G (p.Thr706=) rs1281194317
NM_014874.4(MFN2):c.2120G>C (p.Arg707Pro) rs375937289
NM_014874.4(MFN2):c.2123A>G (p.Glu708Gly) rs1557537210
NM_014874.4(MFN2):c.2125_2133del (p.Asn709_Glu711del) rs2523122445
NM_014874.4(MFN2):c.2129T>C (p.Leu710Pro) rs1557537223
NM_014874.4(MFN2):c.2146G>C (p.Ala716Pro) rs144860227
NM_014874.4(MFN2):c.2146G>T (p.Ala716Ser) rs144860227
NM_014874.4(MFN2):c.214dup (p.Glu72fs) rs2522984875
NM_014874.4(MFN2):c.2156A>G (p.Lys719Arg) rs2100868327
NM_014874.4(MFN2):c.2159A>T (p.Lys720Ile) rs2100868363
NM_014874.4(MFN2):c.2160A>G (p.Lys720=) rs769855660
NM_014874.4(MFN2):c.2170C>G (p.Leu724Val) rs2523122904
NM_014874.4(MFN2):c.2171T>C (p.Leu724Pro) rs1557537346
NM_014874.4(MFN2):c.2177C>G (p.Ser726Ter) rs1317009723
NM_014874.4(MFN2):c.2186G>C (p.Ser729Thr) rs2523123050
NM_014874.4(MFN2):c.2187C>A (p.Ser729Arg) rs2523123057
NM_014874.4(MFN2):c.2189A>G (p.Lys730Arg) rs1373071856
NM_014874.4(MFN2):c.2190A>T (p.Lys730Asn) rs1569883217
NM_014874.4(MFN2):c.2200C>G (p.Leu734Val) rs900143738
NM_014874.4(MFN2):c.2202C>G (p.Leu734=) rs1304254268
NM_014874.4(MFN2):c.2205-15A>T rs2100874408
NM_014874.4(MFN2):c.2205-15dup
NM_014874.4(MFN2):c.2205-4G>A rs2523134508
NM_014874.4(MFN2):c.2205G>A (p.Arg735=) rs757975290
NM_014874.4(MFN2):c.2211A>G (p.Lys737=) rs1639694970
NM_014874.4(MFN2):c.2212G>A (p.Ala738Thr) rs1553146551
NM_014874.4(MFN2):c.2213C>T (p.Ala738Val) rs1569889919
NM_014874.4(MFN2):c.2214C>T (p.Ala738=) rs781669282
NM_014874.4(MFN2):c.2218T>A (p.Trp740Arg) rs1557539004
NM_014874.4(MFN2):c.2219G>C (p.Trp740Ser) rs28940292
NM_014874.4(MFN2):c.2219G>T (p.Trp740Leu) rs28940292
NM_014874.4(MFN2):c.221A>G (p.Gln74Arg) rs1569815882
NM_014874.4(MFN2):c.2220G>T (p.Trp740Cys) rs1060501925
NM_014874.4(MFN2):c.2222T>G (p.Leu741Trp) rs1553146559
NM_014874.4(MFN2):c.2224G>C (p.Asp742His) rs2523134694
NM_014874.4(MFN2):c.2227A>G (p.Ser743Gly) rs1553146561
NM_014874.4(MFN2):c.2228G>A (p.Ser743Asn) rs1639696930
NM_014874.4(MFN2):c.2230G>A (p.Glu744Lys) rs1064794571
NM_014874.4(MFN2):c.2231A>G (p.Glu744Gly) rs1131691782
NM_014874.4(MFN2):c.2232G>A (p.Glu744=) rs756693072
NM_014874.4(MFN2):c.2232G>C (p.Glu744Asp) rs756693072
NM_014874.4(MFN2):c.2232G>T (p.Glu744Asp) rs756693072
NM_014874.4(MFN2):c.2234T>G (p.Leu745Arg) rs1553146569
NM_014874.4(MFN2):c.2235C>T (p.Leu745=)
NM_014874.4(MFN2):c.2239A>T (p.Met747Leu) rs1259403735
NM_014874.4(MFN2):c.223G>A (p.Val75Ile) rs2522984933
NM_014874.4(MFN2):c.2240T>G (p.Met747Arg) rs879254059
NM_014874.4(MFN2):c.2243T>G (p.Phe748Cys) rs2100874709
NM_014874.4(MFN2):c.2244del (p.Phe748fs)
NM_014874.4(MFN2):c.2246C>T (p.Thr749Ile)
NM_014874.4(MFN2):c.2249A>C (p.His750Pro) rs1569890311
NM_014874.4(MFN2):c.2249A>G (p.His750Arg) rs1569890311
NM_014874.4(MFN2):c.2249_2250del (p.His750fs) rs2523134899
NM_014874.4(MFN2):c.2251C>T (p.Gln751Ter) rs1557539119
NM_014874.4(MFN2):c.2256C>A (p.Tyr752Ter) rs863224968
NM_014874.4(MFN2):c.2256C>G (p.Tyr752Ter) rs863224968
NM_014874.4(MFN2):c.2258T>C (p.Leu753Pro) rs1639699426
NM_014874.4(MFN2):c.2260C>T (p.Gln754Ter) rs868571112
NM_014874.4(MFN2):c.2269A>C (p.Arg757=) rs1639700136
NM_014874.4(MFN2):c.227T>C (p.Leu76Pro) rs28940293
NM_014874.4(MFN2):c.22T>C (p.Cys8Arg) rs1342700068
NM_014874.4(MFN2):c.239G>C (p.Gly80Ala) rs139827903
NM_014874.4(MFN2):c.239G>T (p.Gly80Val) rs139827903
NM_014874.4(MFN2):c.245del (p.Leu82fs) rs2100812695
NM_014874.4(MFN2):c.246A>C (p.Leu82=)
NM_014874.4(MFN2):c.248C>G (p.Ser83Cys) rs372451582
NM_014874.4(MFN2):c.249C>G (p.Ser83=)
NM_014874.4(MFN2):c.254_256dup (p.Val85_Arg86insMet) rs1638738352
NM_014874.4(MFN2):c.262A>C (p.Ile88Leu) rs1569816194
NM_014874.4(MFN2):c.262A>T (p.Ile88Phe) rs1569816194
NM_014874.4(MFN2):c.263T>C (p.Ile88Thr) rs1638739035
NM_014874.4(MFN2):c.264C>G (p.Ile88Met) rs1553141680
NM_014874.4(MFN2):c.264C>T (p.Ile88=) rs1553141680
NM_014874.4(MFN2):c.271G>A (p.Val91Met) rs1557519001
NM_014874.4(MFN2):c.271G>T (p.Val91Leu) rs1557519001
NM_014874.4(MFN2):c.273G>A (p.Val91=) rs2522985541
NM_014874.4(MFN2):c.273G>T (p.Val91=) rs2522985541
NM_014874.4(MFN2):c.275T>C (p.Leu92Pro) rs1569816285
NM_014874.4(MFN2):c.279T>C (p.Ala93=) rs2522985592
NM_014874.4(MFN2):c.280C>G (p.Arg94Gly) rs119103263
NM_014874.4(MFN2):c.280C>T (p.Arg94Trp) rs119103263
NM_014874.4(MFN2):c.281G>A (p.Arg94Gln) rs28940291
NM_014874.4(MFN2):c.283A>C (p.Arg95=) rs1060501920
NM_014874.4(MFN2):c.283A>G (p.Arg95Gly) rs1060501920
NM_014874.4(MFN2):c.283_285del (p.Arg95del) rs1638740322
NM_014874.4(MFN2):c.284G>A (p.Arg95Lys) rs1638740596
NM_014874.4(MFN2):c.285G>C (p.Arg95Ser) rs1553141686
NM_014874.4(MFN2):c.285G>T (p.Arg95Ser) rs1553141686
NM_014874.4(MFN2):c.288C>A (p.His96Gln) rs779756767
NM_014874.4(MFN2):c.288C>G (p.His96Gln) rs779756767
NM_014874.4(MFN2):c.288C>T (p.His96=) rs779756767
NM_014874.4(MFN2):c.292A>G (p.Lys98Glu) rs1553141706
NM_014874.4(MFN2):c.299C>G (p.Ala100Gly) rs1553141707
NM_014874.4(MFN2):c.29C>G (p.Ser10Cys) rs757982521
NM_014874.4(MFN2):c.307G>A (p.Gly103Ser) rs972448302
NM_014874.4(MFN2):c.310C>T (p.Arg104Trp) rs119103268
NM_014874.4(MFN2):c.311+14_311+15delinsTT rs2100813069
NM_014874.4(MFN2):c.311+7C>T rs778692193
NM_014874.4(MFN2):c.311G>T (p.Arg104Leu) rs863224068
NM_014874.4(MFN2):c.312-10T>C rs2523010123
NM_014874.4(MFN2):c.312-16_314del rs2100822209
NM_014874.4(MFN2):c.312-3T>A rs2523010184
NM_014874.4(MFN2):c.313A>G (p.Thr105Ala) rs1553142428
NM_014874.4(MFN2):c.314C>T (p.Thr105Met) rs863224069
NM_014874.4(MFN2):c.317G>A (p.Ser106Asn) rs2523010293
NM_014874.4(MFN2):c.318C>G (p.Ser106Arg) rs778937659
NM_014874.4(MFN2):c.319A>G (p.Asn107Asp) rs1569829556
NM_014874.4(MFN2):c.321T>G (p.Asn107Lys) rs1638897505
NM_014874.4(MFN2):c.326A>G (p.Lys109Arg) rs1553142436
NM_014874.4(MFN2):c.327G>A (p.Lys109=) rs1557521712
NM_014874.4(MFN2):c.332C>T (p.Thr111Ile) rs1638898105
NM_014874.4(MFN2):c.341A>G (p.Asn114Ser) rs2523010562
NM_014874.4(MFN2):c.347T>C (p.Met116Thr) rs1569829691
NM_014874.4(MFN2):c.349C>G (p.Leu117Val) rs2523010617
NM_014874.4(MFN2):c.351C>T (p.Leu117=) rs1468573342
NM_014874.4(MFN2):c.357C>T (p.Asp119=) rs2523010688
NM_014874.4(MFN2):c.358A>G (p.Lys120Glu) rs2523010703
NM_014874.4(MFN2):c.361del (p.Val121fs) rs2523010718
NM_014874.4(MFN2):c.366G>A (p.Leu122=) rs2100822411
NM_014874.4(MFN2):c.369C>G (p.Pro123=) rs1393819397
NM_014874.4(MFN2):c.373G>A (p.Gly125Arg) rs1569829787
NM_014874.4(MFN2):c.374G>A (p.Gly125Glu) rs1638900244
NM_014874.4(MFN2):c.379G>C (p.Gly127Arg) rs2523010895
NM_014874.4(MFN2):c.382C>A (p.His128Asn) rs2100822486
NM_014874.4(MFN2):c.382C>T (p.His128Tyr) rs2100822486
NM_014874.4(MFN2):c.383A>C (p.His128Pro) rs1569829894
NM_014874.4(MFN2):c.384C>G (p.His128Gln) rs770767909
NM_014874.4(MFN2):c.386C>T (p.Thr129Ile) rs1060501919
NM_014874.4(MFN2):c.392A>G (p.Asn131Ser) rs776404901
NM_014874.4(MFN2):c.395G>T (p.Cys132Phe) rs1569830013
NM_014874.4(MFN2):c.399C>G (p.Phe133Leu)
NM_014874.4(MFN2):c.401T>A (p.Leu134Gln) rs2100822581
NM_014874.4(MFN2):c.403C>T (p.Arg135Trp)
NM_014874.4(MFN2):c.406G>T (p.Val136Leu) rs2523011187
NM_014874.4(MFN2):c.406dup (p.Val136fs) rs759844257
NM_014874.4(MFN2):c.411G>C (p.Glu137Asp) rs2100822641
NM_014874.4(MFN2):c.413G>A (p.Gly138Asp)
NM_014874.4(MFN2):c.423C>G (p.Gly141=) rs2523011360
NM_014874.4(MFN2):c.424C>T (p.His142Tyr)
NM_014874.4(MFN2):c.434T>C (p.Phe145Ser)
NM_014874.4(MFN2):c.436C>T (p.Leu146Phe) rs863224969
NM_014874.4(MFN2):c.449G>T (p.Gly150Val) rs1060501918
NM_014874.4(MFN2):c.452C>T (p.Ser151Leu) rs2100822731
NM_014874.4(MFN2):c.459A>G (p.Glu153=)
NM_014874.4(MFN2):c.462G>A (p.Lys154=) rs1255624199
NM_014874.4(MFN2):c.462GAG[1] (p.Arg155del) rs1213849595
NM_014874.4(MFN2):c.462_463delinsTT (p.Lys154_Arg155delinsAsnTrp) rs2100822768
NM_014874.4(MFN2):c.463A>G (p.Arg155Gly) rs2523011690
NM_014874.4(MFN2):c.466A>G (p.Ser156Gly) rs1638905291
NM_014874.4(MFN2):c.467G>T (p.Ser156Ile) rs1557521949
NM_014874.4(MFN2):c.469G>A (p.Ala157Thr) rs764880166
NM_014874.4(MFN2):c.469_470delinsTT (p.Ala157Phe) rs2523011783
NM_014874.4(MFN2):c.475-12C>T rs2523020540
NM_014874.4(MFN2):c.475-17C>G
NM_014874.4(MFN2):c.475-1G>C rs1569834500
NM_014874.4(MFN2):c.475-2A>G rs1557522794
NM_014874.4(MFN2):c.475-4T>A rs2523020705
NM_014874.4(MFN2):c.475-4T>G
NM_014874.4(MFN2):c.475-5A>G rs375925656
NM_014874.4(MFN2):c.475-5_475-2dup rs2523020689
NM_014874.4(MFN2):c.475-7_478del rs2100825988
NM_014874.4(MFN2):c.475A>C (p.Thr159Pro) rs2523020754
NM_014874.4(MFN2):c.479T>C (p.Val160Ala) rs879253861
NM_014874.4(MFN2):c.486G>C (p.Gln162His) rs975073098
NM_014874.4(MFN2):c.486_494del (p.Gln162_Ala164del) rs2523020853
NM_014874.4(MFN2):c.488T>C (p.Leu163Pro) rs2100826124
NM_014874.4(MFN2):c.493C>G (p.His165Asp) rs119103262
NM_014874.4(MFN2):c.493C>T (p.His165Tyr) rs119103262
NM_014874.4(MFN2):c.494A>C (p.His165Pro) rs863224970
NM_014874.4(MFN2):c.494A>G (p.His165Arg) rs863224970
NM_014874.4(MFN2):c.495T>A (p.His165Gln) rs1569834720
NM_014874.4(MFN2):c.495T>G (p.His165Gln) rs1569834720
NM_014874.4(MFN2):c.497C>T (p.Ala166Val) rs1557522849
NM_014874.4(MFN2):c.504C>T (p.His168=) rs2100826193
NM_014874.4(MFN2):c.505C>T (p.Gln169Ter) rs1638957324
NM_014874.4(MFN2):c.508G>T (p.Asp170Tyr) rs2523021178
NM_014874.4(MFN2):c.510C>T (p.Asp170=) rs2100826208
NM_014874.4(MFN2):c.518T>C (p.Leu173Pro) rs2100826229
NM_014874.4(MFN2):c.524C>T (p.Ala175Val) rs370569875
NM_014874.4(MFN2):c.526G>A (p.Gly176Ser) rs879253862
NM_014874.4(MFN2):c.53A>G (p.Lys18Arg)
NM_014874.4(MFN2):c.548G>T (p.Trp183Leu) rs2100826348
NM_014874.4(MFN2):c.550C>G (p.Pro184Ala) rs1638959309
NM_014874.4(MFN2):c.552C>T (p.Pro184=) rs2100826374
NM_014874.4(MFN2):c.555C>T (p.Asn185=) rs755790687
NM_014874.4(MFN2):c.555del (p.Ser186fs) rs2523021639
NM_014874.4(MFN2):c.564C>T (p.Cys188=) rs536007087
NM_014874.4(MFN2):c.569T>C (p.Leu190Pro) rs1553142726
NM_014874.4(MFN2):c.57A>T (p.Arg19Ser) rs2522961692
NM_014874.4(MFN2):c.592A>C (p.Met198Leu) rs1569835123
NM_014874.4(MFN2):c.592A>T (p.Met198Leu) rs1569835123
NM_014874.4(MFN2):c.597C>G (p.Asp199Glu) rs1205882839
NM_014874.4(MFN2):c.597C>T (p.Asp199=)
NM_014874.4(MFN2):c.599+9G>A rs377142427
NM_014874.4(MFN2):c.5C>T (p.Ser2Phe)
NM_014874.4(MFN2):c.600-11G>C rs1215662000
NM_014874.4(MFN2):c.600-13_600-12del rs1250749521
NM_014874.4(MFN2):c.600-8_600-7dup rs761842762
NM_014874.4(MFN2):c.601C>T (p.Pro201Ser) rs1639041254
NM_014874.4(MFN2):c.604G>A (p.Gly202Ser) rs2523034580
NM_014874.4(MFN2):c.614T>C (p.Val205Ala) rs1639042915
NM_014874.4(MFN2):c.616A>G (p.Thr206Ala) rs1569842296
NM_014874.4(MFN2):c.618C>T (p.Thr206=) rs2523034736
NM_014874.4(MFN2):c.624G>T (p.Glu208Asp) rs1162977959
NM_014874.4(MFN2):c.626T>G (p.Leu209Arg) rs1639043428
NM_014874.4(MFN2):c.629A>G (p.Asp210Gly) rs1639043704
NM_014874.4(MFN2):c.638T>C (p.Ile213Thr) rs1557524703
NM_014874.4(MFN2):c.64G>T (p.Ala22Ser) rs1178355950
NM_014874.4(MFN2):c.650G>T (p.Cys217Phe) rs1569842458
NM_014874.4(MFN2):c.653T>C (p.Leu218Pro) rs879253925
NM_014874.4(MFN2):c.656A>G (p.Asp219Gly) rs1569842483
NM_014874.4(MFN2):c.657T>G (p.Asp219Glu) rs878854989
NM_014874.4(MFN2):c.658G>A (p.Ala220Thr) rs1639045345
NM_014874.4(MFN2):c.661G>A (p.Asp221Asn) rs1569842525
NM_014874.4(MFN2):c.661G>C (p.Asp221His) rs1569842525
NM_014874.4(MFN2):c.666G>A (p.Val222=) rs911933291
NM_014874.4(MFN2):c.667T>C (p.Phe223Leu) rs1639045962
NM_014874.4(MFN2):c.669T>A (p.Phe223Leu) rs1440006845
NM_014874.4(MFN2):c.66T>C (p.Ala22=) rs746838667
NM_014874.4(MFN2):c.674_680del (p.Leu225fs) rs1060501915
NM_014874.4(MFN2):c.675G>A (p.Leu225=)
NM_014874.4(MFN2):c.676G>A (p.Val226Met) rs1569842610
NM_014874.4(MFN2):c.677_688del (p.Val226_Ser229del) rs1569842627
NM_014874.4(MFN2):c.688G>A (p.Glu230Lys) rs2100831900
NM_014874.4(MFN2):c.690G>C (p.Glu230Asp) rs1569842685
NM_014874.4(MFN2):c.690G>T (p.Glu230Asp) rs1569842685
NM_014874.4(MFN2):c.692C>G (p.Ser231Cys) rs1569842714
NM_014874.4(MFN2):c.692C>T (p.Ser231Phe) rs1569842714
NM_014874.4(MFN2):c.694A>C (p.Thr232Pro) rs1553143165
NM_014874.4(MFN2):c.695C>A (p.Thr232Asn) rs1569842764
NM_014874.4(MFN2):c.700A>C (p.Met234Leu) rs2100831955
NM_014874.4(MFN2):c.700A>G (p.Met234Val) rs2100831955
NM_014874.4(MFN2):c.700A>T (p.Met234Leu) rs2100831955
NM_014874.4(MFN2):c.703C>G (p.Gln235Glu) rs879254210
NM_014874.4(MFN2):c.703C>T (p.Gln235Ter) rs879254210
NM_014874.4(MFN2):c.705G>C (p.Gln235His) rs767601252
NM_014874.4(MFN2):c.707C>T (p.Thr236Met) rs773159585
NM_014874.4(MFN2):c.708+1G>A rs1639048523
NM_014874.4(MFN2):c.708+4A>G
NM_014874.4(MFN2):c.708+5CTC[2] rs863224842
NM_014874.4(MFN2):c.708+9del
NM_014874.4(MFN2):c.708G>A (p.Thr236=) rs1557524867
NM_014874.4(MFN2):c.709-11C>A
NM_014874.4(MFN2):c.711A>C (p.Glu237Asp) rs1557525000
NM_014874.4(MFN2):c.711A>T (p.Glu237Asp) rs1557525000
NM_014874.4(MFN2):c.718T>C (p.Phe240Leu) rs1557525005
NM_014874.4(MFN2):c.718T>G (p.Phe240Val) rs1557525005
NM_014874.4(MFN2):c.720C>A (p.Phe240Leu) rs864622480
NM_014874.4(MFN2):c.730G>A (p.Val244Met) rs879253777
NM_014874.4(MFN2):c.731T>C (p.Val244Ala) rs1060501921
NM_014874.4(MFN2):c.731T>G (p.Val244Gly) rs1060501921
NM_014874.4(MFN2):c.738G>C (p.Glu246Asp) rs2100832455
NM_014874.4(MFN2):c.742C>G (p.Leu248Val) rs1569843694
NM_014874.4(MFN2):c.743_744delinsGT (p.Leu248Arg)
NM_014874.4(MFN2):c.744C>G (p.Leu248=) rs61733205
NM_014874.4(MFN2):c.746C>G (p.Ser249Cys) rs794729198
NM_014874.4(MFN2):c.746C>T (p.Ser249Phe) rs794729198
NM_014874.4(MFN2):c.748del (p.Arg250fs) rs754530491
NM_014874.4(MFN2):c.750G>A (p.Arg250=) rs1639056984
NM_014874.4(MFN2):c.751C>T (p.Pro251Ser) rs28940295
NM_014874.4(MFN2):c.752C>G (p.Pro251Arg) rs1557525153
NM_014874.4(MFN2):c.752C>T (p.Pro251Leu) rs1557525153
NM_014874.4(MFN2):c.760T>G (p.Phe254Val)
NM_014874.4(MFN2):c.764T>C (p.Ile255Thr) rs2523037323
NM_014874.4(MFN2):c.768G>A (p.Leu256=) rs2100832631
NM_014874.4(MFN2):c.773A>G (p.Asn258Ser) rs1639058625
NM_014874.4(MFN2):c.775C>A (p.Arg259Ser) rs587777875
NM_014874.4(MFN2):c.775C>T (p.Arg259Cys) rs587777875
NM_014874.4(MFN2):c.776G>T (p.Arg259Leu) rs755065651
NM_014874.4(MFN2):c.779G>A (p.Trp260Ter) rs2523037515
NM_014874.4(MFN2):c.790_791delinsTT (p.Ala264Phe) rs2100832738
NM_014874.4(MFN2):c.796G>A (p.Glu266Lys) rs1569844113
NM_014874.4(MFN2):c.802G>A (p.Glu268Lys) rs1453267972
NM_014874.4(MFN2):c.808A>C (p.Met270Leu) rs748318825
NM_014874.4(MFN2):c.808A>T (p.Met270Leu) rs748318825
NM_014874.4(MFN2):c.813G>C (p.Glu271Asp) rs777689961
NM_014874.4(MFN2):c.814G>A (p.Glu272Lys) rs1639061149
NM_014874.4(MFN2):c.816+16T>C rs775137911
NM_014874.4(MFN2):c.816+18G>A rs2100832894
NM_014874.4(MFN2):c.816+9T>G rs1320498123
NM_014874.4(MFN2):c.817-18C>T rs978782506
NM_014874.4(MFN2):c.817-19A>C
NM_014874.4(MFN2):c.817-19A>G rs540498876
NM_014874.4(MFN2):c.817G>A (p.Val273Met) rs1639165942
NM_014874.4(MFN2):c.817G>T (p.Val273Leu) rs1639165942
NM_014874.4(MFN2):c.818T>A (p.Val273Glu) rs1458700065
NM_014874.4(MFN2):c.818T>G (p.Val273Gly) rs1458700065
NM_014874.4(MFN2):c.821GGC[3] (p.Arg275_Gln276insArg) rs2523053527
NM_014874.4(MFN2):c.821_826del (p.Arg274_Arg275del)
NM_014874.4(MFN2):c.825GCA[3] (p.Gln276dup) rs1553143791
NM_014874.4(MFN2):c.828G>T (p.Gln276His) rs1569851570
NM_014874.4(MFN2):c.834G>A (p.Met278Ile) rs1639167341
NM_014874.4(MFN2):c.838C>T (p.Arg280Cys) rs879253957
NM_014874.4(MFN2):c.839G>A (p.Arg280His) rs28940294
NM_014874.4(MFN2):c.856G>A (p.Val286Met)
NM_014874.4(MFN2):c.857T>G (p.Val286Gly) rs765825496
NM_014874.4(MFN2):c.858G>A (p.Val286=)
NM_014874.4(MFN2):c.861T>C (p.Asp287=) rs2523053944
NM_014874.4(MFN2):c.864G>A (p.Glu288=) rs1569851796
NM_014874.4(MFN2):c.864G>C (p.Glu288Asp) rs1569851796
NM_014874.4(MFN2):c.866T>C (p.Leu289Pro) rs2523053996
NM_014874.4(MFN2):c.871G>A (p.Val291Met)
NM_014874.4(MFN2):c.879T>C (p.Asp293=) rs2523054130
NM_014874.4(MFN2):c.880C>G (p.Arg294Gly) rs866604005
NM_014874.4(MFN2):c.880C>T (p.Arg294Ter) rs866604005
NM_014874.4(MFN2):c.881G>A (p.Arg294Gln) rs371982971
NM_014874.4(MFN2):c.890C>T (p.Ala297Val) rs2523054283
NM_014874.4(MFN2):c.891C>G (p.Ala297=) rs11554508
NM_014874.4(MFN2):c.893G>T (p.Gly298Val)
NM_014874.4(MFN2):c.898C>T (p.Arg300Cys) rs863224066
NM_014874.4(MFN2):c.910G>C (p.Val304Leu) rs2100839352
NM_014874.4(MFN2):c.913T>G (p.Ser305Ala) rs1639171448
NM_014874.4(MFN2):c.916G>A (p.Ala306Thr) rs1553143847
NM_014874.4(MFN2):c.919A>G (p.Lys307Glu) rs1639171700
NM_014874.4(MFN2):c.91C>T (p.His31Tyr) rs1553140991
NM_014874.4(MFN2):c.922G>A (p.Glu308Lys) rs1553143852
NM_014874.4(MFN2):c.922G>C (p.Glu308Gln) rs1553143852
NM_014874.4(MFN2):c.922G>T (p.Glu308Ter) rs1553143852
NM_014874.4(MFN2):c.927G>C (p.Val309=) rs779947209
NM_014874.4(MFN2):c.931A>G (p.Asn311Asp) rs2523054695
NM_014874.4(MFN2):c.934G>A (p.Ala312Thr)
NM_014874.4(MFN2):c.93C>G (p.His31Gln) rs2522962020
NM_014874.4(MFN2):c.949G>T (p.Ala317Ser) rs2100839494
NM_014874.4(MFN2):c.950C>G (p.Ala317Gly) rs1639173341
NM_014874.4(MFN2):c.964G>A (p.Glu322Lys) rs1569852256
NM_014874.4(MFN2):c.969A>G (p.Gly323=) rs1639174381
NM_014874.4(MFN2):c.970+1G>T rs1553143890
NM_014874.4(MFN2):c.970+5T>G rs2523055189
NM_014874.4(MFN2):c.970+6G>A rs1169750501
NM_014874.4(MFN2):c.970+8T>C rs2100839593
NM_014874.4(MFN2):c.970+9G>A rs2100839595
NM_014874.4(MFN2):c.971-10A>G rs1453045695
NM_014874.4(MFN2):c.971-3T>A
NM_014874.4(MFN2):c.971-8C>T rs780000309
NM_014874.4(MFN2):c.981C>T (p.Leu327=) rs747677218
NM_014874.4(MFN2):c.982G>T (p.Ala328Ser)
NM_014874.4(MFN2):c.987A>G (p.Glu329=) rs2523057560
NM_014874.4(MFN2):c.990C>T (p.Gly330=) rs2523057573
NM_014874.4(MFN2):c.997G>A (p.Val333Met) rs1009733171

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