NM_014874.4(MFN2):c.176-207G>A
|
rs6675934
|
0.88297
|
NM_014874.4(MFN2):c.*58A>G
|
rs1042842
|
0.71104
|
NM_014874.4(MFN2):c.474+65C>T
|
rs2236056
|
0.64979
|
NM_014874.4(MFN2):c.1160+201C>G
|
rs2236058
|
0.57223
|
NM_014874.4(MFN2):c.1873-66T>G
|
rs7550536
|
0.54079
|
NM_014874.4(MFN2):c.816+260C>T
|
rs2295281
|
0.45894
|
NM_014874.4(MFN2):c.2204+15T>C
|
rs77262016
|
0.07571
|
NM_014874.4(MFN2):c.1716+125C>T
|
rs74052925
|
0.04600
|
NM_014874.4(MFN2):c.1716+91_1716+92dup
|
rs150488282
|
0.04591
|
NM_014874.4(MFN2):c.1495+186A>G
|
rs3766742
|
0.04496
|
NM_014874.4(MFN2):c.2069+82C>T
|
rs11586204
|
0.04464
|
NM_014874.4(MFN2):c.1569C>T (p.Ser523=)
|
rs1042837
|
0.04459
|
NM_014874.4(MFN2):c.600-25T>C
|
rs41278626
|
0.04459
|
NM_014874.4(MFN2):c.1717-271A>G
|
rs11579994
|
0.04446
|
NM_014874.4(MFN2):c.1039-22T>C
|
rs6680984
|
0.04312
|
NM_014874.4(MFN2):c.1872+63T>C
|
rs2273295
|
0.03984
|
NM_014874.4(MFN2):c.2070-63C>T
|
rs115175952
|
0.03125
|
NM_014874.4(MFN2):c.1717-177T>C
|
rs112638989
|
0.02858
|
NM_014874.4(MFN2):c.312-138C>G
|
rs79244021
|
0.02852
|
NM_014874.4(MFN2):c.600-247G>A
|
rs149142526
|
0.02659
|
NM_014874.4(MFN2):c.-149-15T>G
|
rs114306601
|
0.02587
|
NM_014874.4(MFN2):c.817-108G>A
|
rs139807696
|
0.02523
|
NM_014874.4(MFN2):c.599+115A>C
|
rs78727601
|
0.02499
|
NM_014874.4(MFN2):c.474+278A>G
|
rs79492543
|
0.02496
|
NM_014874.4(MFN2):c.176-59C>G
|
rs17037562
|
0.02488
|
NM_014874.4(MFN2):c.175+219_175+220del
|
rs142734466
|
0.02485
|
NM_014874.4(MFN2):c.159C>T (p.Ser53=)
|
rs61733200
|
0.02240
|
NM_014874.4(MFN2):c.2069+30G>C
|
rs77941748
|
0.01637
|
NM_014874.4(MFN2):c.475-232T>G
|
rs115256192
|
0.01616
|
NM_014874.3(MFN2):c.-249T>A
|
rs2180182
|
0.01549
|
NM_014874.3(MFN2):c.-287C>T
|
rs2180181
|
0.01549
|
NM_014874.4(MFN2):c.2204+118A>G
|
rs77738831
|
0.01480
|
NM_014874.4(MFN2):c.1495+310C>T
|
rs116817317
|
0.01457
|
NM_014874.4(MFN2):c.1039-41C>G
|
rs115054993
|
0.01366
|
NM_014874.4(MFN2):c.2205-13C>A
|
rs76020240
|
0.01362
|
NM_014874.4(MFN2):c.1496-34T>C
|
rs143065633
|
0.01190
|
NM_014874.4(MFN2):c.474+86A>C
|
rs6678781
|
0.01151
|
NM_014874.4(MFN2):c.1039-19G>A
|
rs74052923
|
0.01120
|
NM_014874.4(MFN2):c.600-116G>A
|
rs41278624
|
0.00928
|
NM_014874.4(MFN2):c.599+109A>G
|
rs75754772
|
0.00898
|
NM_014874.4(MFN2):c.176-200G>T
|
rs116722569
|
0.00844
|
NM_014874.4(MFN2):c.-4-221C>A
|
rs192381474
|
0.00799
|
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.311+315A>G
|
rs114350897
|
0.00670
|
NM_014874.4(MFN2):c.2113G>A (p.Val705Ile)
|
rs142271930
|
0.00621
|
NM_014874.4(MFN2):c.744C>T (p.Leu248=)
|
rs61733205
|
0.00591
|
NM_014874.4(MFN2):c.475-38T>C
|
rs151226551
|
0.00556
|
NM_014874.4(MFN2):c.1495+236C>A
|
rs141359660
|
0.00479
|
NM_014874.4(MFN2):c.975C>T (p.Gly325=)
|
rs141475476
|
0.00357
|
NM_014874.4(MFN2):c.474+88G>C
|
rs540377814
|
0.00302
|
NM_014874.4(MFN2):c.*15G>A
|
rs141339523
|
0.00292
|
NM_014874.4(MFN2):c.1403G>A (p.Arg468His)
|
rs138382758
|
0.00255
|
NM_014874.4(MFN2):c.1161-197C>T
|
rs117745744
|
0.00247
|
NM_014874.4(MFN2):c.892G>A (p.Gly298Arg)
|
rs41278630
|
0.00221
|
NM_014874.4(MFN2):c.663T>C (p.Asp221=)
|
rs116504054
|
0.00184
|
NM_014874.4(MFN2):c.475-33C>T
|
rs76051569
|
0.00168
|
NM_014874.4(MFN2):c.1179G>A (p.Met393Ile)
|
rs12069578
|
0.00153
|
NM_014874.4(MFN2):c.165C>T (p.Thr55=)
|
rs77458527
|
0.00106
|
NM_014874.4(MFN2):c.408A>T (p.Val136=)
|
rs78814413
|
0.00106
|
NM_014874.4(MFN2):c.150C>A (p.Ile50=)
|
rs78841746
|
0.00089
|
NM_014874.4(MFN2):c.891C>T (p.Ala297=)
|
rs11554508
|
0.00087
|
NM_014874.4(MFN2):c.1452G>A (p.Thr484=)
|
rs150043585
|
0.00083
|
NM_014874.4(MFN2):c.-4-13G>T
|
rs373679523
|
0.00060
|
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.2119C>T (p.Arg707Trp)
|
rs119103267
|
0.00029
|
NM_014874.4(MFN2):c.749G>A (p.Arg250Gln)
|
rs140234726
|
0.00019
|
NM_014874.4(MFN2):c.971-16A>G
|
rs374822911
|
0.00019
|
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.2069+16G>A
|
rs376673392
|
0.00016
|
NM_014874.4(MFN2):c.-161G>A
|
rs140094248
|
0.00014
|
NM_014874.4(MFN2):c.870C>T (p.Gly290=)
|
rs368302487
|
0.00014
|
NM_014874.4(MFN2):c.1476C>A (p.Thr492=)
|
rs143428548
|
0.00013
|
NM_014874.4(MFN2):c.1987C>T (p.Arg663Cys)
|
rs369762154
|
0.00011
|
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.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.1617A>G (p.Glu539=)
|
rs556515947
|
0.00007
|
NM_014874.4(MFN2):c.1779G>A (p.Ser593=)
|
rs367623682
|
0.00006
|
NM_014874.4(MFN2):c.1875G>A (p.Val625=)
|
rs747719940
|
0.00006
|
NM_014874.4(MFN2):c.179C>T (p.Thr60Met)
|
rs138345244
|
0.00005
|
NM_014874.4(MFN2):c.-10A>G
|
rs575581303
|
0.00004
|
NM_014874.4(MFN2):c.1108G>C (p.Glu370Gln)
|
rs377402479
|
0.00004
|
NM_014874.4(MFN2):c.1528C>T (p.Arg510Trp)
|
rs146092040
|
0.00004
|
NM_014874.4(MFN2):c.1529G>A (p.Arg510Gln)
|
rs376598131
|
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.522T>C (p.His174=)
|
rs762789747
|
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.1113G>A (p.Ala371=)
|
rs766570486
|
0.00003
|
NM_014874.4(MFN2):c.1161-18C>T
|
rs1351551038
|
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.204C>T (p.Pro68=)
|
rs148399574
|
0.00003
|
NM_014874.4(MFN2):c.1061T>C (p.Val354Ala)
|
rs1057518235
|
0.00002
|
NM_014874.4(MFN2):c.1180C>T (p.Arg394Cys)
|
rs186448929
|
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.311+9T>C
|
rs771439230
|
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.740G>A (p.Arg247His)
|
rs762189054
|
0.00002
|
NM_014874.4(MFN2):c.809T>C (p.Met270Thr)
|
rs771996573
|
0.00002
|
NM_014874.4(MFN2):c.1039-20C>T
|
rs1253046105
|
0.00001
|
NM_014874.4(MFN2):c.1162G>A (p.Val388Ile)
|
rs924011766
|
0.00001
|
NM_014874.4(MFN2):c.1174G>A (p.Glu392Lys)
|
rs767111551
|
0.00001
|
NM_014874.4(MFN2):c.1190G>A (p.Arg397Gln)
|
rs778219078
|
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.1413G>A (p.Glu471=)
|
rs745360979
|
0.00001
|
NM_014874.4(MFN2):c.1442G>A (p.Arg481His)
|
rs767718891
|
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.1564T>C (p.Phe522Leu)
|
rs747397065
|
0.00001
|
NM_014874.4(MFN2):c.163A>T (p.Thr55Ser)
|
rs776423551
|
0.00001
|
NM_014874.4(MFN2):c.1729A>G (p.Ile577Val)
|
rs749606728
|
0.00001
|
NM_014874.4(MFN2):c.1806C>T (p.Ser602=)
|
rs201258935
|
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.2060A>G (p.Gln687Arg)
|
rs879253910
|
0.00001
|
NM_014874.4(MFN2):c.311+8C>T
|
rs747730092
|
0.00001
|
NM_014874.4(MFN2):c.312-19A>G
|
rs756393202
|
0.00001
|
NM_014874.4(MFN2):c.525C>T (p.Ala175=)
|
rs751505990
|
0.00001
|
NM_014874.4(MFN2):c.541G>A (p.Val181Met)
|
rs863224064
|
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.899G>A (p.Arg300His)
|
rs1226075443
|
0.00001
|
NM_014874.4(MFN2):c.982G>A (p.Ala328Thr)
|
rs771900151
|
0.00001
|
GRCh37/hg19 1p36.22(chr1:12052305-12057623)x3
|
|
|
NM_014874.4(MFN2):c.-149-20C>A
|
rs1053095330
|
|
NM_014874.4(MFN2):c.-149-43_-149-38dup
|
rs34602102
|
|
NM_014874.4(MFN2):c.-149-44_-149-38dup
|
rs34602102
|
|
NM_014874.4(MFN2):c.-149-45_-149-38dup
|
rs34602102
|
|
NM_014874.4(MFN2):c.-149-46_-149-45insGTTTTTTTTT
|
rs763918741
|
|
NM_014874.4(MFN2):c.-150+4A>T
|
rs879253978
|
|
NM_014874.4(MFN2):c.1003A>T (p.Met335Leu)
|
|
|
NM_014874.4(MFN2):c.1030A>G (p.Arg344Gly)
|
rs1131691642
|
|
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.1082A>G (p.His361Arg)
|
rs1064793170
|
|
NM_014874.4(MFN2):c.1084A>C (p.Thr362Pro)
|
rs879254176
|
|
NM_014874.4(MFN2):c.1087G>T (p.Val363Phe)
|
|
|
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.1126A>G (p.Met376Val)
|
rs863224967
|
|
NM_014874.4(MFN2):c.1161-312del
|
rs60299433
|
|
NM_014874.4(MFN2):c.1161-312dup
|
rs60299433
|
|
NM_014874.4(MFN2):c.1165T>C (p.Tyr389His)
|
rs863224070
|
|
NM_014874.4(MFN2):c.1190G>C (p.Arg397Pro)
|
rs778219078
|
|
NM_014874.4(MFN2):c.1198C>T (p.Arg400Ter)
|
rs879253939
|
|
NM_014874.4(MFN2):c.1252C>T (p.Arg418Ter)
|
rs1057517987
|
|
NM_014874.4(MFN2):c.1339G>A (p.Asp447Asn)
|
rs368032696
|
|
NM_014874.4(MFN2):c.1409_1410del (p.Ile470fs)
|
rs1569862384
|
|
NM_014874.4(MFN2):c.1418G>A (p.Gly473Glu)
|
rs542858566
|
|
NM_014874.4(MFN2):c.1517C>T (p.Pro506Leu)
|
|
|
NM_014874.4(MFN2):c.1535A>G (p.Gln512Arg)
|
rs2100852773
|
|
NM_014874.4(MFN2):c.1560G>T (p.Gln520His)
|
rs2100852881
|
|
NM_014874.4(MFN2):c.1716+233dup
|
rs3830887
|
|
NM_014874.4(MFN2):c.171T>C (p.Leu57=)
|
rs1443899568
|
|
NM_014874.4(MFN2):c.1873-154C>G
|
rs116069423
|
|
NM_014874.4(MFN2):c.1894C>T (p.Arg632Trp)
|
rs772701127
|
|
NM_014874.4(MFN2):c.1904C>A (p.Ala635Asp)
|
rs863224071
|
|
NM_014874.4(MFN2):c.1920C>G (p.Leu640=)
|
rs141468012
|
|
NM_014874.4(MFN2):c.1968C>G (p.Ala656=)
|
rs763381681
|
|
NM_014874.4(MFN2):c.1984A>G (p.Lys662Glu)
|
rs1569871448
|
|
NM_014874.4(MFN2):c.1991A>G (p.Gln664Arg)
|
rs2100858529
|
|
NM_014874.4(MFN2):c.2004T>G (p.His668Gln)
|
rs549425750
|
|
NM_014874.4(MFN2):c.2026G>A (p.Val676Ile)
|
rs1057520619
|
|
NM_014874.4(MFN2):c.2077_2080del (p.Ser693fs)
|
rs1218501764
|
|
NM_014874.4(MFN2):c.2108T>C (p.Val703Ala)
|
rs879253944
|
|
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.2205-120C>G
|
rs3766741
|
|
NM_014874.4(MFN2):c.2219G>C (p.Trp740Ser)
|
rs28940292
|
|
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.2240T>G (p.Met747Arg)
|
rs879254059
|
|
NM_014874.4(MFN2):c.2270G>C (p.Arg757Thr)
|
|
|
NM_014874.4(MFN2):c.227T>C (p.Leu76Pro)
|
rs28940293
|
|
NM_014874.4(MFN2):c.248C>G (p.Ser83Cys)
|
rs372451582
|
|
NM_014874.4(MFN2):c.254T>C (p.Val85Ala)
|
rs1553141664
|
|
NM_014874.4(MFN2):c.264C>G (p.Ile88Met)
|
rs1553141680
|
|
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.310C>T (p.Arg104Trp)
|
rs119103268
|
|
NM_014874.4(MFN2):c.311+285_311+289dup
|
rs35911686
|
|
NM_014874.4(MFN2):c.311+286_311+289dup
|
rs35911686
|
|
NM_014874.4(MFN2):c.311+287_311+289dup
|
rs35911686
|
|
NM_014874.4(MFN2):c.311+288_311+289dup
|
rs35911686
|
|
NM_014874.4(MFN2):c.311+289dup
|
rs35911686
|
|
NM_014874.4(MFN2):c.311G>A (p.Arg104Gln)
|
rs863224068
|
|
NM_014874.4(MFN2):c.358A>G (p.Lys120Glu)
|
|
|
NM_014874.4(MFN2):c.382C>T (p.His128Tyr)
|
rs2100822486
|
|
NM_014874.4(MFN2):c.392A>G (p.Asn131Ser)
|
rs776404901
|
|
NM_014874.4(MFN2):c.406dup (p.Val136fs)
|
rs759844257
|
|
NM_014874.4(MFN2):c.436C>T (p.Leu146Phe)
|
rs863224969
|
|
NM_014874.4(MFN2):c.462_463delinsTT (p.Lys154_Arg155delinsAsnTrp)
|
rs2100822768
|
|
NM_014874.4(MFN2):c.475-240del
|
rs35141271
|
|
NM_014874.4(MFN2):c.475-240dup
|
rs35141271
|
|
NM_014874.4(MFN2):c.475-241_475-240del
|
rs35141271
|
|
NM_014874.4(MFN2):c.475-259C>A
|
rs1425252988
|
|
NM_014874.4(MFN2):c.494A>G (p.His165Arg)
|
rs863224970
|
|
NM_014874.4(MFN2):c.564C>T (p.Cys188=)
|
rs536007087
|
|
NM_014874.4(MFN2):c.572T>C (p.Leu191Pro)
|
rs879254288
|
|
NM_014874.4(MFN2):c.600-220AAAAC[4]
|
rs55676620
|
|
NM_014874.4(MFN2):c.613G>A (p.Val205Ile)
|
rs2100831623
|
|
NM_014874.4(MFN2):c.624G>T (p.Glu208Asp)
|
rs1162977959
|
|
NM_014874.4(MFN2):c.628G>T (p.Asp210Tyr)
|
rs1064794315
|
|
NM_014874.4(MFN2):c.653T>C (p.Leu218Pro)
|
rs879253925
|
|
NM_014874.4(MFN2):c.659C>T (p.Ala220Val)
|
rs879254010
|
|
NM_014874.4(MFN2):c.666G>A (p.Val222=)
|
rs911933291
|
|
NM_014874.4(MFN2):c.677_688del (p.Val226_Ser229del)
|
rs1569842627
|
|
NM_014874.4(MFN2):c.690G>T (p.Glu230Asp)
|
rs1569842685
|
|
NM_014874.4(MFN2):c.703C>G (p.Gln235Glu)
|
rs879254210
|
|
NM_014874.4(MFN2):c.711A>T (p.Glu237Asp)
|
rs1557525000
|
|
NM_014874.4(MFN2):c.721T>G (p.Phe241Val)
|
rs879253924
|
|
NM_014874.4(MFN2):c.775C>T (p.Arg259Cys)
|
rs587777875
|
|
NM_014874.4(MFN2):c.818T>G (p.Val273Gly)
|
rs1458700065
|
|
NM_014874.4(MFN2):c.825GCA[3] (p.Gln276dup)
|
rs1553143791
|
|
NM_014874.4(MFN2):c.830A>G (p.His277Arg)
|
rs1064794316
|
|
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.898C>T (p.Arg300Cys)
|
rs863224066
|
|
NM_014874.4(MFN2):c.927G>C (p.Val309=)
|
rs779947209
|
|
NM_014874.4(MFN2):c.974G>A (p.Gly325Asp)
|
|
|