NM_014874.4(MFN2):c.756C>T (p.Asn252=)
|
rs137960129
|
0.00053
|
NM_014874.4(MFN2):c.1827C>T (p.Ser609=)
|
rs138724074
|
0.00039
|
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.*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
|
0.00021
|
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.2157G>A (p.Lys719=)
|
rs148441213
|
0.00017
|
NM_014874.4(MFN2):c.*1794_*1796del
|
rs540280019
|
0.00016
|
NM_014874.4(MFN2):c.*1276G>A
|
rs766342161
|
0.00014
|
NM_014874.4(MFN2):c.474+4A>G
|
rs141974160
|
0.00014
|
NM_014874.4(MFN2):c.*256G>A
|
rs557772799
|
0.00012
|
NM_014874.4(MFN2):c.*1153C>T
|
rs542684406
|
0.00011
|
NM_014874.4(MFN2):c.*36G>A
|
rs377468070
|
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.*813G>A
|
rs771869272
|
0.00010
|
NM_014874.4(MFN2):c.1574A>G (p.Asn525Ser)
|
rs145654854
|
0.00010
|
NM_014874.4(MFN2):c.842G>C (p.Cys281Ser)
|
rs147136530
|
0.00010
|
NM_014874.4(MFN2):c.1150C>T (p.Arg384Trp)
|
rs777353788
|
0.00009
|
NM_014874.4(MFN2):c.160G>A (p.Ala54Thr)
|
rs61733203
|
0.00008
|
NM_014874.4(MFN2):c.857T>C (p.Val286Ala)
|
rs765825496
|
0.00008
|
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.1108G>C (p.Glu370Gln)
|
rs377402479
|
0.00004
|
NM_014874.4(MFN2):c.1269G>A (p.Thr423=)
|
rs145994616
|
0.00004
|
NM_014874.4(MFN2):c.1528C>T (p.Arg510Trp)
|
rs146092040
|
0.00004
|
NM_014874.4(MFN2):c.1762C>T (p.Pro588Ser)
|
rs771043011
|
0.00004
|
NM_014874.4(MFN2):c.58C>T (p.His20Tyr)
|
rs201715603
|
0.00004
|
NM_014874.4(MFN2):c.*1662T>C
|
rs1020801224
|
0.00003
|
NM_014874.4(MFN2):c.*297T>A
|
rs886045224
|
0.00003
|
NM_014874.4(MFN2):c.1085C>T (p.Thr362Met)
|
rs387906991
|
0.00003
|
NM_014874.4(MFN2):c.1171G>A (p.Glu391Lys)
|
rs756800190
|
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.1759C>T (p.Pro587Ser)
|
rs771675874
|
0.00003
|
NM_014874.4(MFN2):c.1816G>A (p.Gly606Ser)
|
rs149122641
|
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.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.765C>G (p.Ile255Met)
|
rs376327713
|
0.00003
|
NM_014874.4(MFN2):c.821G>A (p.Arg274Gln)
|
rs768407445
|
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.1257T>G (p.Ile419Met)
|
rs749893944
|
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.187A>C (p.Asn63His)
|
rs761216583
|
0.00002
|
NM_014874.4(MFN2):c.34G>A (p.Val12Ile)
|
rs367715413
|
0.00002
|
NM_014874.4(MFN2):c.445G>A (p.Glu149Lys)
|
rs754016178
|
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.740G>A (p.Arg247His)
|
rs762189054
|
0.00002
|
NM_014874.4(MFN2):c.823C>T (p.Arg275Trp)
|
rs368499636
|
0.00002
|
NM_014874.4(MFN2):c.824G>A (p.Arg275Gln)
|
rs560470663
|
0.00002
|
NM_014874.4(MFN2):c.*1222G>A
|
rs531732785
|
0.00001
|
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.*870C>T
|
rs886045227
|
0.00001
|
NM_014874.4(MFN2):c.1064A>G (p.Lys355Arg)
|
rs143747551
|
0.00001
|
NM_014874.4(MFN2):c.1118G>A (p.Arg373Gln)
|
rs142042485
|
0.00001
|
NM_014874.4(MFN2):c.1162G>A (p.Val388Ile)
|
rs924011766
|
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.1202T>G (p.Leu401Arg)
|
rs1161492440
|
0.00001
|
NM_014874.4(MFN2):c.1208T>G (p.Phe403Cys)
|
rs769905428
|
0.00001
|
NM_014874.4(MFN2):c.1253G>A (p.Arg418Gln)
|
rs766998571
|
0.00001
|
NM_014874.4(MFN2):c.1267A>G (p.Thr423Ala)
|
rs765921889
|
0.00001
|
NM_014874.4(MFN2):c.1292C>T (p.Ser431Leu)
|
rs764374251
|
0.00001
|
NM_014874.4(MFN2):c.1304C>G (p.Ala435Gly)
|
rs1030984908
|
0.00001
|
NM_014874.4(MFN2):c.1318C>T (p.Arg440Cys)
|
rs756110507
|
0.00001
|
NM_014874.4(MFN2):c.1367C>T (p.Pro456Leu)
|
rs78658090
|
0.00001
|
NM_014874.4(MFN2):c.1424G>A (p.Gly475Asp)
|
rs774967287
|
0.00001
|
NM_014874.4(MFN2):c.1432A>G (p.Met478Val)
|
rs953946892
|
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.1488C>A (p.Asp496Glu)
|
rs746806455
|
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.163A>T (p.Thr55Ser)
|
rs776423551
|
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.1750C>A (p.Pro584Thr)
|
rs773308500
|
0.00001
|
NM_014874.4(MFN2):c.175G>T (p.Asp59Tyr)
|
rs1311434220
|
0.00001
|
NM_014874.4(MFN2):c.1778C>T (p.Ser593Leu)
|
rs759372833
|
0.00001
|
NM_014874.4(MFN2):c.1822G>A (p.Ala608Thr)
|
rs1639431440
|
0.00001
|
NM_014874.4(MFN2):c.1858G>A (p.Val620Ile)
|
rs200936779
|
0.00001
|
NM_014874.4(MFN2):c.1909T>A (p.Ser637Thr)
|
rs763185826
|
0.00001
|
NM_014874.4(MFN2):c.190G>A (p.Ala64Thr)
|
rs922058129
|
0.00001
|
NM_014874.4(MFN2):c.1922A>G (p.Tyr641Cys)
|
rs866276988
|
0.00001
|
NM_014874.4(MFN2):c.1946G>A (p.Arg649His)
|
rs763492075
|
0.00001
|
NM_014874.4(MFN2):c.1951A>G (p.Thr651Ala)
|
rs772756022
|
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.1995T>G (p.Phe665Leu)
|
rs755219120
|
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.2060A>G (p.Gln687Arg)
|
rs879253910
|
0.00001
|
NM_014874.4(MFN2):c.2147C>T (p.Ala716Val)
|
rs771589792
|
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.2204+13C>T
|
rs200441797
|
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.31A>G (p.Ile11Val)
|
rs763735861
|
0.00001
|
NM_014874.4(MFN2):c.32T>C (p.Ile11Thr)
|
rs777625403
|
0.00001
|
NM_014874.4(MFN2):c.395G>A (p.Cys132Tyr)
|
rs1569830013
|
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.541G>A (p.Val181Met)
|
rs863224064
|
0.00001
|
NM_014874.4(MFN2):c.608T>C (p.Ile203Thr)
|
rs200715905
|
0.00001
|
NM_014874.4(MFN2):c.707C>T (p.Thr236Met)
|
rs773159585
|
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.748C>T (p.Arg250Trp)
|
rs373107074
|
0.00001
|
NM_014874.4(MFN2):c.776G>A (p.Arg259His)
|
rs755065651
|
0.00001
|
NM_014874.4(MFN2):c.816+4C>T
|
rs374018931
|
0.00001
|
NM_014874.4(MFN2):c.899G>A (p.Arg300His)
|
rs1226075443
|
0.00001
|
NM_014874.4(MFN2):c.932A>G (p.Asn311Ser)
|
rs748838916
|
0.00001
|
NM_014874.4(MFN2):c.946A>G (p.Lys316Glu)
|
rs1424551887
|
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.(?_12052592)_(12071622_?)dup
|
|
|
NC_000001.10:g.(?_12064039)_(12069793_?)dup
|
|
|
NC_000001.10:g.(?_12069639)_(12069793_?)del
|
|
|
NC_000001.10:g.(?_12071543)_(12071632_?)dup
|
|
|
NM_014874.3(MFN2):c.-217C>A
|
rs886045218
|
|
NM_014874.4(MFN2):c.*1068C>T
|
rs886045229
|
|
NM_014874.4(MFN2):c.*121A>G
|
rs886045222
|
|
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.*381C>A
|
rs966318629
|
|
NM_014874.4(MFN2):c.*57C>T
|
rs886045221
|
|
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.1003A>G (p.Met335Val)
|
rs1557527886
|
|
NM_014874.4(MFN2):c.1024G>C (p.Glu342Gln)
|
rs1557527906
|
|
NM_014874.4(MFN2):c.1039-12T>C
|
|
|
NM_014874.4(MFN2):c.1040A>T (p.Glu347Val)
|
rs1569853875
|
|
NM_014874.4(MFN2):c.1042T>C (p.Cys348Arg)
|
rs1639195979
|
|
NM_014874.4(MFN2):c.1048T>C (p.Ser350Pro)
|
rs1569853900
|
|
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.1065G>T (p.Lys355Asn)
|
|
|
NM_014874.4(MFN2):c.1066A>G (p.Thr356Ala)
|
rs1569853967
|
|
NM_014874.4(MFN2):c.1067C>A (p.Thr356Asn)
|
rs1569853976
|
|
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.1085C>G (p.Thr362Arg)
|
rs387906991
|
|
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.1094C>T (p.Ala365Val)
|
rs868500000
|
|
NM_014874.4(MFN2):c.10C>T (p.Leu4Phe)
|
|
|
NM_014874.4(MFN2):c.1102A>G (p.Ile368Val)
|
|
|
NM_014874.4(MFN2):c.1121T>G (p.Leu374Arg)
|
|
|
NM_014874.4(MFN2):c.1126A>C (p.Met376Leu)
|
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.1128G>A (p.Met376Ile)
|
rs1553144059
|
|
NM_014874.4(MFN2):c.1132T>C (p.Ser378Pro)
|
rs1569854381
|
|
NM_014874.4(MFN2):c.1134_1142del (p.Leu379_Met381del)
|
rs1569854405
|
|
NM_014874.4(MFN2):c.1136T>C (p.Leu379Pro)
|
rs1064797107
|
|
NM_014874.4(MFN2):c.1138C>T (p.His380Tyr)
|
rs1433849760
|
|
NM_014874.4(MFN2):c.113A>T (p.Lys38Met)
|
|
|
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.1143GGC[1] (p.Ala383del)
|
rs1553144065
|
|
NM_014874.4(MFN2):c.1144G>C (p.Ala382Pro)
|
rs1553144066
|
|
NM_014874.4(MFN2):c.1150C>G (p.Arg384Gly)
|
|
|
NM_014874.4(MFN2):c.1151G>A (p.Arg384Gln)
|
rs565042936
|
|
NM_014874.4(MFN2):c.1157_1158inv (p.Gln386Pro)
|
|
|
NM_014874.4(MFN2):c.1161G>C (p.Gln387His)
|
|
|
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.1169G>T (p.Cys390Phe)
|
rs1569859660
|
|
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.1198C>T (p.Arg400Ter)
|
rs879253939
|
|
NM_014874.4(MFN2):c.1199G>C (p.Arg400Pro)
|
rs138072432
|
|
NM_014874.4(MFN2):c.1210A>G (p.Ile404Val)
|
|
|
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.1225G>C (p.Glu409Gln)
|
|
|
NM_014874.4(MFN2):c.1228C>A (p.Leu410Ile)
|
|
|
NM_014874.4(MFN2):c.122G>A (p.Gly41Asp)
|
rs2100802868
|
|
NM_014874.4(MFN2):c.1241A>T (p.Asp414Val)
|
rs1569860081
|
|
NM_014874.4(MFN2):c.1243T>C (p.Tyr415His)
|
|
|
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.1252C>G (p.Arg418Gly)
|
|
|
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.1271A>G (p.Glu424Gly)
|
rs1557530247
|
|
NM_014874.4(MFN2):c.1284G>T (p.Arg428Ser)
|
rs2100847602
|
|
NM_014874.4(MFN2):c.1287+2T>G
|
rs758721984
|
|
NM_014874.4(MFN2):c.1287+4A>G
|
rs1162804216
|
|
NM_014874.4(MFN2):c.1287+6A>G
|
rs778274550
|
|
NM_014874.4(MFN2):c.1288G>A (p.Val430Met)
|
|
|
NM_014874.4(MFN2):c.1300A>G (p.Met434Val)
|
|
|
NM_014874.4(MFN2):c.1301T>A (p.Met434Lys)
|
|
|
NM_014874.4(MFN2):c.1306G>A (p.Glu436Lys)
|
|
|
NM_014874.4(MFN2):c.1306GAG[1] (p.Glu437del)
|
rs766213721
|
|
NM_014874.4(MFN2):c.1319G>A (p.Arg440His)
|
|
|
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)
|
|
|
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.1333G>A (p.Val445Met)
|
rs1639319467
|
|
NM_014874.4(MFN2):c.1339G>A (p.Asp447Asn)
|
rs368032696
|
|
NM_014874.4(MFN2):c.134A>G (p.Gln45Arg)
|
rs1569802992
|
|
NM_014874.4(MFN2):c.1357C>T (p.His453Tyr)
|
|
|
NM_014874.4(MFN2):c.1360C>A (p.Pro454Thr)
|
|
|
NM_014874.4(MFN2):c.136del (p.Leu46fs)
|
rs1569803014
|
|
NM_014874.4(MFN2):c.1375C>T (p.Leu459Phe)
|
rs1639321356
|
|
NM_014874.4(MFN2):c.1385A>G (p.Tyr462Cys)
|
rs2100849130
|
|
NM_014874.4(MFN2):c.1392+2T>C
|
rs111723244
|
|
NM_014874.4(MFN2):c.1392+3G>A
|
|
|
NM_014874.4(MFN2):c.1393-8G>A
|
rs1639330742
|
|
NM_014874.4(MFN2):c.1406A>G (p.His469Arg)
|
|
|
NM_014874.4(MFN2):c.140G>C (p.Gly47Ala)
|
rs1263406133
|
|
NM_014874.4(MFN2):c.1427G>A (p.Arg476Gln)
|
|
|
NM_014874.4(MFN2):c.142G>A (p.Ala48Thr)
|
|
|
NM_014874.4(MFN2):c.1433T>C (p.Met478Thr)
|
|
|
NM_014874.4(MFN2):c.1434G>A (p.Met478Ile)
|
|
|
NM_014874.4(MFN2):c.1436C>G (p.Ser479Cys)
|
rs1639333679
|
|
NM_014874.4(MFN2):c.1447T>C (p.Ser483Pro)
|
rs1639334188
|
|
NM_014874.4(MFN2):c.1448C>T (p.Ser483Phe)
|
|
|
NM_014874.4(MFN2):c.1454C>T (p.Ala485Val)
|
|
|
NM_014874.4(MFN2):c.1487A>G (p.Asp496Gly)
|
rs1569862824
|
|
NM_014874.4(MFN2):c.1489A>G (p.Met497Val)
|
rs2100850292
|
|
NM_014874.4(MFN2):c.1493T>C (p.Ile498Thr)
|
|
|
NM_014874.4(MFN2):c.1495+3_1495+6dup
|
rs2100850333
|
|
NM_014874.4(MFN2):c.1496-8C>G
|
rs1639377731
|
|
NM_014874.4(MFN2):c.1496A>T (p.Asp499Val)
|
|
|
NM_014874.4(MFN2):c.1498G>A (p.Gly500Ser)
|
rs1639378150
|
|
NM_014874.4(MFN2):c.1502T>C (p.Leu501Ser)
|
|
|
NM_014874.4(MFN2):c.1511T>C (p.Leu504Pro)
|
rs1553145023
|
|
NM_014874.4(MFN2):c.1516C>T (p.Pro506Ser)
|
|
|
NM_014874.4(MFN2):c.1523C>G (p.Ser508Cys)
|
|
|
NM_014874.4(MFN2):c.1525G>A (p.Val509Met)
|
|
|
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.153G>T (p.Gln51His)
|
rs886045219
|
|
NM_014874.4(MFN2):c.1555C>T (p.Arg519Cys)
|
rs369140232
|
|
NM_014874.4(MFN2):c.1556G>C (p.Arg519Pro)
|
rs373809750
|
|
NM_014874.4(MFN2):c.1570C>T (p.Leu524Phe)
|
rs866494871
|
|
NM_014874.4(MFN2):c.1573A>G (p.Asn525Asp)
|
|
|
NM_014874.4(MFN2):c.1588T>C (p.Cys530Arg)
|
|
|
NM_014874.4(MFN2):c.1598T>C (p.Leu533Pro)
|
|
|
NM_014874.4(MFN2):c.159C>G (p.Ser53Arg)
|
rs61733200
|
|
NM_014874.4(MFN2):c.1601G>A (p.Cys534Tyr)
|
|
|
NM_014874.4(MFN2):c.1612C>G (p.Gln538Glu)
|
|
|
NM_014874.4(MFN2):c.1615G>A (p.Glu539Lys)
|
|
|
NM_014874.4(MFN2):c.161C>T (p.Ala54Val)
|
|
|
NM_014874.4(MFN2):c.1621A>G (p.Ile541Val)
|
rs1639383535
|
|
NM_014874.4(MFN2):c.1625A>C (p.Glu542Ala)
|
|
|
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.1717G>A (p.Val573Ile)
|
|
|
NM_014874.4(MFN2):c.1717G>C (p.Val573Leu)
|
|
|
NM_014874.4(MFN2):c.1723C>T (p.Arg575Cys)
|
rs786204244
|
|
NM_014874.4(MFN2):c.1727C>T (p.Pro576Leu)
|
|
|
NM_014874.4(MFN2):c.1739C>T (p.Thr580Met)
|
|
|
NM_014874.4(MFN2):c.175+5G>A
|
|
|
NM_014874.4(MFN2):c.175+6G>T
|
rs762489839
|
|
NM_014874.4(MFN2):c.1753A>C (p.Ser585Arg)
|
|
|
NM_014874.4(MFN2):c.1755C>G (p.Ser585Arg)
|
rs1335576013
|
|
NM_014874.4(MFN2):c.1758G>A (p.Met586Ile)
|
|
|
NM_014874.4(MFN2):c.1759C>A (p.Pro587Thr)
|
rs771675874
|
|
NM_014874.4(MFN2):c.176-14A>G
|
|
|
NM_014874.4(MFN2):c.176-3C>T
|
rs975369655
|
|
NM_014874.4(MFN2):c.1763C>T (p.Pro588Leu)
|
rs1639428648
|
|
NM_014874.4(MFN2):c.1772_1773del (p.Gln591fs)
|
rs1569868729
|
|
NM_014874.4(MFN2):c.1775G>A (p.Gly592Asp)
|
|
|
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.1807A>G (p.Met603Val)
|
|
|
NM_014874.4(MFN2):c.1810G>A (p.Val604Ile)
|
rs1553145384
|
|
NM_014874.4(MFN2):c.1823C>T (p.Ala608Val)
|
rs1060501924
|
|
NM_014874.4(MFN2):c.1834T>A (p.Ser612Thr)
|
rs2100856360
|
|
NM_014874.4(MFN2):c.1835C>A (p.Ser612Tyr)
|
rs755299545
|
|
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)
|
|
|
NM_014874.4(MFN2):c.1856TTG[2] (p.Val621del)
|
|
|
NM_014874.4(MFN2):c.1858G>C (p.Val620Leu)
|
|
|
NM_014874.4(MFN2):c.1859T>C (p.Val620Ala)
|
|
|
NM_014874.4(MFN2):c.1861G>A (p.Val621Ile)
|
rs1639433425
|
|
NM_014874.4(MFN2):c.1862T>C (p.Val621Ala)
|
|
|
NM_014874.4(MFN2):c.1872+13T>G
|
|
|
NM_014874.4(MFN2):c.1872+5G>A
|
|
|
NM_014874.4(MFN2):c.1879A>G (p.Lys627Glu)
|
rs1163976600
|
|
NM_014874.4(MFN2):c.1909T>G (p.Ser637Ala)
|
|
|
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>A (p.Leu640Ile)
|
|
|
NM_014874.4(MFN2):c.1918C>T (p.Leu640Phe)
|
rs764683093
|
|
NM_014874.4(MFN2):c.1921T>C (p.Tyr641His)
|
rs1569870930
|
|
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.1936G>A (p.Val646Ile)
|
rs754683866
|
|
NM_014874.4(MFN2):c.1936G>C (p.Val646Leu)
|
rs754683866
|
|
NM_014874.4(MFN2):c.1938C>A (p.Val646=)
|
rs1040702840
|
|
NM_014874.4(MFN2):c.193G>T (p.Glu65Ter)
|
rs1415276772
|
|
NM_014874.4(MFN2):c.1952C>G (p.Thr651Ser)
|
rs746502519
|
|
NM_014874.4(MFN2):c.195A>C (p.Glu65Asp)
|
rs1297357606
|
|
NM_014874.4(MFN2):c.1963A>G (p.Lys655Glu)
|
rs1639459062
|
|
NM_014874.4(MFN2):c.1966G>A (p.Ala656Thr)
|
|
|
NM_014874.4(MFN2):c.1974G>C (p.Glu658Asp)
|
rs2100858415
|
|
NM_014874.4(MFN2):c.1975A>G (p.Arg659Gly)
|
|
|
NM_014874.4(MFN2):c.1979C>T (p.Ala660Val)
|
rs377090439
|
|
NM_014874.4(MFN2):c.1984A>G (p.Lys662Glu)
|
rs1569871448
|
|
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.1994T>C (p.Phe665Ser)
|
rs1569871530
|
|
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)
|
|
|
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.2042G>C (p.Gly681Ala)
|
|
|
NM_014874.4(MFN2):c.2047A>C (p.Asn683His)
|
rs1569871862
|
|
NM_014874.4(MFN2):c.2055CCA[1] (p.His686del)
|
|
|
NM_014874.4(MFN2):c.2068C>G (p.Gln690Glu)
|
rs1218249174
|
|
NM_014874.4(MFN2):c.2069+4A>G
|
rs2100858892
|
|
NM_014874.4(MFN2):c.2093A>G (p.His698Arg)
|
rs1060501916
|
|
NM_014874.4(MFN2):c.2093A>T (p.His698Leu)
|
rs1060501916
|
|
NM_014874.4(MFN2):c.2096T>C (p.Leu699Pro)
|
|
|
NM_014874.4(MFN2):c.2096_2101del (p.Leu699_Cys700del)
|
rs2100868068
|
|
NM_014874.4(MFN2):c.20G>T (p.Arg7Leu)
|
|
|
NM_014874.4(MFN2):c.2108T>C (p.Val703Ala)
|
rs879253944
|
|
NM_014874.4(MFN2):c.2116A>C (p.Thr706Pro)
|
rs1569882675
|
|
NM_014874.4(MFN2):c.211A>G (p.Thr71Ala)
|
rs548809273
|
|
NM_014874.4(MFN2):c.2120G>A (p.Arg707Gln)
|
|
|
NM_014874.4(MFN2):c.2120G>C (p.Arg707Pro)
|
rs375937289
|
|
NM_014874.4(MFN2):c.2120_2128del (p.Arg707_Asn709del)
|
rs1639600409
|
|
NM_014874.4(MFN2):c.2123A>G (p.Glu708Gly)
|
rs1557537210
|
|
NM_014874.4(MFN2):c.2125_2133del (p.Asn709_Glu711del)
|
|
|
NM_014874.4(MFN2):c.2129T>C (p.Leu710Pro)
|
rs1557537223
|
|
NM_014874.4(MFN2):c.2133G>T (p.Glu711Asp)
|
rs1486405515
|
|
NM_014874.4(MFN2):c.2140A>G (p.Ile714Val)
|
rs779574187
|
|
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.2151G>A (p.Met717Ile)
|
rs1639602553
|
|
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.2171T>C (p.Leu724Pro)
|
rs1557537346
|
|
NM_014874.4(MFN2):c.2171T>G (p.Leu724Arg)
|
rs1557537346
|
|
NM_014874.4(MFN2):c.2186G>C (p.Ser729Thr)
|
|
|
NM_014874.4(MFN2):c.2187C>A (p.Ser729Arg)
|
|
|
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.2195A>G (p.Lys732Arg)
|
|
|
NM_014874.4(MFN2):c.2200C>G (p.Leu734Val)
|
rs900143738
|
|
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.2213C>T (p.Ala738Val)
|
rs1569889919
|
|
NM_014874.4(MFN2):c.2218T>A (p.Trp740Arg)
|
rs1557539004
|
|
NM_014874.4(MFN2):c.2218T>C (p.Trp740Arg)
|
rs1557539004
|
|
NM_014874.4(MFN2):c.2219G>C (p.Trp740Ser)
|
rs28940292
|
|
NM_014874.4(MFN2):c.2219G>T (p.Trp740Leu)
|
|
|
NM_014874.4(MFN2):c.221A>G (p.Gln74Arg)
|
rs1569815882
|
|
NM_014874.4(MFN2):c.2220G>C (p.Trp740Cys)
|
rs1060501925
|
|
NM_014874.4(MFN2):c.2222T>G (p.Leu741Trp)
|
rs1553146559
|
|
NM_014874.4(MFN2):c.2224G>C (p.Asp742His)
|
|
|
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.2229T>A (p.Ser743Arg)
|
rs1569890121
|
|
NM_014874.4(MFN2):c.2229T>G (p.Ser743Arg)
|
rs1569890121
|
|
NM_014874.4(MFN2):c.2230G>A (p.Glu744Lys)
|
rs1064794571
|
|
NM_014874.4(MFN2):c.2230_2231delinsAT (p.Glu744Met)
|
rs1569890153
|
|
NM_014874.4(MFN2):c.2232G>T (p.Glu744Asp)
|
rs756693072
|
|
NM_014874.4(MFN2):c.2234T>C (p.Leu745Pro)
|
rs1553146569
|
|
NM_014874.4(MFN2):c.2234T>G (p.Leu745Arg)
|
rs1553146569
|
|
NM_014874.4(MFN2):c.2239A>T (p.Met747Leu)
|
rs1259403735
|
|
NM_014874.4(MFN2):c.223G>A (p.Val75Ile)
|
|
|
NM_014874.4(MFN2):c.2240T>C (p.Met747Thr)
|
rs879254059
|
|
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.2249A>C (p.His750Pro)
|
rs1569890311
|
|
NM_014874.4(MFN2):c.2249A>G (p.His750Arg)
|
|
|
NM_014874.4(MFN2):c.2251C>T (p.Gln751Ter)
|
rs1557539119
|
|
NM_014874.4(MFN2):c.2254T>A (p.Tyr752Asn)
|
|
|
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.2270G>C (p.Arg757Thr)
|
|
|
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.248C>G (p.Ser83Cys)
|
rs372451582
|
|
NM_014874.4(MFN2):c.24C>G (p.Cys8Trp)
|
|
|
NM_014874.4(MFN2):c.250A>G (p.Lys84Glu)
|
rs1569816088
|
|
NM_014874.4(MFN2):c.254_256dup (p.Val85_Arg86insMet)
|
rs1638738352
|
|
NM_014874.4(MFN2):c.262A>G (p.Ile88Val)
|
rs1569816194
|
|
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.272T>G (p.Val91Gly)
|
rs1569816262
|
|
NM_014874.4(MFN2):c.275T>C (p.Leu92Pro)
|
rs1569816285
|
|
NM_014874.4(MFN2):c.275T>G (p.Leu92Arg)
|
rs1569816285
|
|
NM_014874.4(MFN2):c.280C>G (p.Arg94Gly)
|
rs119103263
|
|
NM_014874.4(MFN2):c.281G>A (p.Arg94Gln)
|
rs28940291
|
|
NM_014874.4(MFN2):c.281G>C (p.Arg94Pro)
|
rs28940291
|
|
NM_014874.4(MFN2):c.284G>A (p.Arg95Lys)
|
rs1638740596
|
|
NM_014874.4(MFN2):c.286C>A (p.His96Asn)
|
rs1569816382
|
|
NM_014874.4(MFN2):c.288C>A (p.His96Gln)
|
rs779756767
|
|
NM_014874.4(MFN2):c.288C>G (p.His96Gln)
|
|
|
NM_014874.4(MFN2):c.292A>G (p.Lys98Glu)
|
rs1553141706
|
|
NM_014874.4(MFN2):c.298G>T (p.Ala100Ser)
|
rs1569816496
|
|
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.306dup (p.Gly103fs)
|
rs777012596
|
|
NM_014874.4(MFN2):c.307G>A (p.Gly103Ser)
|
|
|
NM_014874.4(MFN2):c.30dup (p.Ile11fs)
|
rs1569802246
|
|
NM_014874.4(MFN2):c.311+1G>T
|
rs1569816606
|
|
NM_014874.4(MFN2):c.311G>A (p.Arg104Gln)
|
rs863224068
|
|
NM_014874.4(MFN2):c.311G>T (p.Arg104Leu)
|
rs863224068
|
|
NM_014874.4(MFN2):c.312-3T>A
|
|
|
NM_014874.4(MFN2):c.313A>G (p.Thr105Ala)
|
rs1553142428
|
|
NM_014874.4(MFN2):c.314C>G (p.Thr105Arg)
|
rs863224069
|
|
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.322G>A (p.Gly108Arg)
|
rs1569829573
|
|
NM_014874.4(MFN2):c.332C>T (p.Thr111Ile)
|
rs1638898105
|
|
NM_014874.4(MFN2):c.341A>G (p.Asn114Ser)
|
|
|
NM_014874.4(MFN2):c.347T>C (p.Met116Thr)
|
rs1569829691
|
|
NM_014874.4(MFN2):c.349C>G (p.Leu117Val)
|
|
|
NM_014874.4(MFN2):c.368C>T (p.Pro123Leu)
|
rs1569829761
|
|
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.377T>G (p.Ile126Ser)
|
rs1334228742
|
|
NM_014874.4(MFN2):c.380G>A (p.Gly127Asp)
|
rs1569829855
|
|
NM_014874.4(MFN2):c.380G>T (p.Gly127Val)
|
rs1569829855
|
|
NM_014874.4(MFN2):c.382C>A (p.His128Asn)
|
rs2100822486
|
|
NM_014874.4(MFN2):c.383A>C (p.His128Pro)
|
rs1569829894
|
|
NM_014874.4(MFN2):c.383A>G (p.His128Arg)
|
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.404G>T (p.Arg135Leu)
|
|
|
NM_014874.4(MFN2):c.406G>T (p.Val136Leu)
|
|
|
NM_014874.4(MFN2):c.408= (p.Val136=)
|
|
|
NM_014874.4(MFN2):c.411G>C (p.Glu137Asp)
|
rs2100822641
|
|
NM_014874.4(MFN2):c.430G>A (p.Ala144Thr)
|
rs1569830238
|
|
NM_014874.4(MFN2):c.452C>T (p.Ser151Leu)
|
rs2100822731
|
|
NM_014874.4(MFN2):c.462GAG[1] (p.Arg155del)
|
|
|
NM_014874.4(MFN2):c.462_463delinsTT (p.Lys154_Arg155delinsAsnTrp)
|
rs2100822768
|
|
NM_014874.4(MFN2):c.463A>G (p.Arg155Gly)
|
|
|
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)
|
|
|
NM_014874.4(MFN2):c.469_470delinsTT (p.Ala157Phe)
|
|
|
NM_014874.4(MFN2):c.472A>C (p.Lys158Gln)
|
rs1569830408
|
|
NM_014874.4(MFN2):c.475-1G>C
|
rs1569834500
|
|
NM_014874.4(MFN2):c.475-1G>T
|
rs1569834500
|
|
NM_014874.4(MFN2):c.475-5_475-2dup
|
|
|
NM_014874.4(MFN2):c.475A>C (p.Thr159Pro)
|
|
|
NM_014874.4(MFN2):c.479T>C (p.Val160Ala)
|
rs879253861
|
|
NM_014874.4(MFN2):c.479_480del (p.Val160fs)
|
rs763007983
|
|
NM_014874.4(MFN2):c.486G>C (p.Gln162His)
|
|
|
NM_014874.4(MFN2):c.486_494del (p.Gln162_Ala164del)
|
|
|
NM_014874.4(MFN2):c.488T>C (p.Leu163Pro)
|
rs2100826124
|
|
NM_014874.4(MFN2):c.491C>T (p.Ala164Val)
|
rs1553142699
|
|
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>T (p.His165Leu)
|
rs863224970
|
|
NM_014874.4(MFN2):c.496G>A (p.Ala166Thr)
|
rs1569834732
|
|
NM_014874.4(MFN2):c.500T>C (p.Leu167Pro)
|
rs1569834760
|
|
NM_014874.4(MFN2):c.508G>T (p.Asp170Tyr)
|
|
|
NM_014874.4(MFN2):c.515A>G (p.Gln172Arg)
|
rs1638957491
|
|
NM_014874.4(MFN2):c.518T>C (p.Leu173Pro)
|
rs2100826229
|
|
NM_014874.4(MFN2):c.524C>T (p.Ala175Val)
|
|
|
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.569T>C (p.Leu190Pro)
|
rs1553142726
|
|
NM_014874.4(MFN2):c.57A>T (p.Arg19Ser)
|
|
|
NM_014874.4(MFN2):c.592A>C (p.Met198Leu)
|
|
|
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.601C>T (p.Pro201Ser)
|
rs1639041254
|
|
NM_014874.4(MFN2):c.604G>A (p.Gly202Ser)
|
|
|
NM_014874.4(MFN2):c.605G>C (p.Gly202Ala)
|
rs1569842143
|
|
NM_014874.4(MFN2):c.609T>G (p.Ile203Met)
|
rs1569842208
|
|
NM_014874.4(MFN2):c.612T>A (p.Asp204Glu)
|
rs1569842258
|
|
NM_014874.4(MFN2):c.614T>C (p.Val205Ala)
|
rs1639042915
|
|
NM_014874.4(MFN2):c.617C>T (p.Thr206Ile)
|
rs119103266
|
|
NM_014874.4(MFN2):c.61A>G (p.Met21Val)
|
rs1569802518
|
|
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.628G>C (p.Asp210His)
|
rs1064794315
|
|
NM_014874.4(MFN2):c.638T>C (p.Ile213Thr)
|
rs1557524703
|
|
NM_014874.4(MFN2):c.640G>A (p.Asp214Asn)
|
rs1569842382
|
|
NM_014874.4(MFN2):c.64G>T (p.Ala22Ser)
|
rs1178355950
|
|
NM_014874.4(MFN2):c.653T>C (p.Leu218Pro)
|
rs879253925
|
|
NM_014874.4(MFN2):c.657T>G (p.Asp219Glu)
|
rs878854989
|
|
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.667T>C (p.Phe223Leu)
|
rs1639045962
|
|
NM_014874.4(MFN2):c.669T>A (p.Phe223Leu)
|
rs1440006845
|
|
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.690G>C (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>G (p.Thr232Ala)
|
rs1553143165
|
|
NM_014874.4(MFN2):c.695C>A (p.Thr232Asn)
|
rs1569842764
|
|
NM_014874.4(MFN2):c.697C>G (p.Leu233Val)
|
rs1569842803
|
|
NM_014874.4(MFN2):c.700A>C (p.Met234Leu)
|
rs2100831955
|
|
NM_014874.4(MFN2):c.703C>G (p.Gln235Glu)
|
rs879254210
|
|
NM_014874.4(MFN2):c.708+5CTC[2]
|
rs863224842
|
|
NM_014874.4(MFN2):c.708G>A (p.Thr236=)
|
rs1557524867
|
|
NM_014874.4(MFN2):c.718T>A (p.Phe240Ile)
|
rs1557525005
|
|
NM_014874.4(MFN2):c.718T>C (p.Phe240Leu)
|
rs1557525005
|
|
NM_014874.4(MFN2):c.721T>C (p.Phe241Leu)
|
|
|
NM_014874.4(MFN2):c.731T>C (p.Val244Ala)
|
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.746C>T (p.Ser249Phe)
|
rs794729198
|
|
NM_014874.4(MFN2):c.751C>G (p.Pro251Ala)
|
rs28940295
|
|
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.756C>A (p.Asn252Lys)
|
rs137960129
|
|
NM_014874.4(MFN2):c.757A>T (p.Ile253Phe)
|
rs1639057845
|
|
NM_014874.4(MFN2):c.764T>C (p.Ile255Thr)
|
|
|
NM_014874.4(MFN2):c.773A>G (p.Asn258Ser)
|
rs1639058625
|
|
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.781G>C (p.Asp261His)
|
rs2100832682
|
|
NM_014874.4(MFN2):c.787T>C (p.Ser263Pro)
|
rs1283917064
|
|
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.796G>C (p.Glu266Gln)
|
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)
|
|
|
NM_014874.4(MFN2):c.814G>A (p.Glu272Lys)
|
rs1639061149
|
|
NM_014874.4(MFN2):c.816+5G>A
|
|
|
NM_014874.4(MFN2):c.817G>A (p.Val273Met)
|
rs1639165942
|
|
NM_014874.4(MFN2):c.817G>T (p.Val273Leu)
|
|
|
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)
|
|
|
NM_014874.4(MFN2):c.824G>C (p.Arg275Pro)
|
|
|
NM_014874.4(MFN2):c.825GCA[3] (p.Gln276dup)
|
rs1553143791
|
|
NM_014874.4(MFN2):c.828G>C (p.Gln276His)
|
rs1569851570
|
|
NM_014874.4(MFN2):c.829C>T (p.His277Tyr)
|
rs1569851586
|
|
NM_014874.4(MFN2):c.830A>G (p.His277Arg)
|
rs1064794316
|
|
NM_014874.4(MFN2):c.832A>G (p.Met278Val)
|
|
|
NM_014874.4(MFN2):c.834G>A (p.Met278Ile)
|
rs1639167341
|
|
NM_014874.4(MFN2):c.851T>A (p.Phe284Tyr)
|
rs1569851731
|
|
NM_014874.4(MFN2):c.857T>G (p.Val286Gly)
|
|
|
NM_014874.4(MFN2):c.864G>C (p.Glu288Asp)
|
rs1569851796
|
|
NM_014874.4(MFN2):c.866T>C (p.Leu289Pro)
|
|
|
NM_014874.4(MFN2):c.880C>G (p.Arg294Gly)
|
rs866604005
|
|
NM_014874.4(MFN2):c.881G>A (p.Arg294Gln)
|
|
|
NM_014874.4(MFN2):c.887A>G (p.Gln296Arg)
|
|
|
NM_014874.4(MFN2):c.890C>T (p.Ala297Val)
|
|
|
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)
|
|
|
NM_014874.4(MFN2):c.922G>T (p.Glu308Ter)
|
rs1553143852
|
|
NM_014874.4(MFN2):c.925G>A (p.Val309Met)
|
|
|
NM_014874.4(MFN2):c.931A>G (p.Asn311Asp)
|
|
|
NM_014874.4(MFN2):c.93C>G (p.His31Gln)
|
|
|
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+5T>G
|
|
|
NM_014874.4(MFN2):c.970+6G>A
|
|
|
NM_014874.4(MFN2):c.971-10A>G
|
|
|
NM_014874.4(MFN2):c.971-8C>T
|
rs780000309
|
|
NM_014874.4(MFN2):c.976G>A (p.Ala326Thr)
|
rs1324564667
|
|
NM_014874.4(MFN2):c.986_988del (p.Glu329del)
|
rs1569853108
|
|
NM_014874.4(MFN2):c.990C>T (p.Gly330=)
|
|
|
NM_014874.4(MFN2):c.997G>A (p.Val333Met)
|
rs1009733171
|
|