NM_014874.4(MFN2):c.1403G>A (p.Arg468His)
|
rs138382758
|
0.00255
|
NM_014874.4(MFN2):c.2119C>T (p.Arg707Trp)
|
rs119103267
|
0.00029
|
NM_014874.4(MFN2):c.647T>C (p.Phe216Ser)
|
rs387906990
|
0.00004
|
NM_014874.4(MFN2):c.1085C>T (p.Thr362Met)
|
rs387906991
|
0.00003
|
NM_014874.4(MFN2):c.334G>A (p.Val112Met)
|
rs757937208
|
0.00002
|
NM_014874.4(MFN2):c.2221T>G (p.Leu741Val)
|
rs1060501917
|
0.00001
|
NM_014874.4(MFN2):c.2258dup (p.Gln754fs)
|
rs773371488
|
0.00001
|
NM_014874.4(MFN2):c.558dup (p.Lys187Ter)
|
rs772732232
|
0.00001
|
NM_014874.4(MFN2):c.707C>T (p.Thr236Met)
|
rs773159585
|
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.820C>T (p.Arg274Trp)
|
rs762440627
|
0.00001
|
NC_000001.10:g.(?_12049226)_(12065004_?)del
|
|
|
NC_000001.10:g.(?_12058807)_(12059172_?)del
|
|
|
NC_000001.10:g.(?_12058817)_(12059162_?)del
|
|
|
NC_000001.11:g.12001772del
|
|
|
NC_000001.11:g.12001772dup
|
|
|
NM_014874.3(MFN2):c.600-?_816+?del
|
|
|
NM_014874.3:c.600_816del
|
|
|
NM_014874.4(MFN2):c.1036G>T (p.Glu346Ter)
|
|
|
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.1085C>G (p.Thr362Arg)
|
rs387906991
|
|
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.1100A>C (p.Gln367Pro)
|
|
|
NM_014874.4(MFN2):c.1117C>T (p.Arg373Ter)
|
rs1639200820
|
|
NM_014874.4(MFN2):c.1126A>G (p.Met376Val)
|
rs863224967
|
|
NM_014874.4(MFN2):c.1127T>G (p.Met376Arg)
|
rs1569854342
|
|
NM_014874.4(MFN2):c.1148C>T (p.Ala383Val)
|
rs794727035
|
|
NM_014874.4(MFN2):c.1156C>T (p.Gln386Ter)
|
|
|
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.1292C>A (p.Ser431Ter)
|
rs764374251
|
|
NM_014874.4(MFN2):c.1392+1G>A
|
rs1569861708
|
|
NM_014874.4(MFN2):c.1392+2T>C
|
rs111723244
|
|
NM_014874.4(MFN2):c.1538_1541del (p.Ile513fs)
|
rs2100852782
|
|
NM_014874.4(MFN2):c.1590_1591del (p.Cys530_Asp531delinsTer)
|
rs2100853005
|
|
NM_014874.4(MFN2):c.1606del (p.Asp536fs)
|
rs2100853065
|
|
NM_014874.4(MFN2):c.1612del (p.Gln538fs)
|
rs1569865516
|
|
NM_014874.4(MFN2):c.1771C>T (p.Gln591Ter)
|
|
|
NM_014874.4(MFN2):c.1772_1773del (p.Gln591fs)
|
rs1569868729
|
|
NM_014874.4(MFN2):c.1789G>T (p.Glu597Ter)
|
rs2100856157
|
|
NM_014874.4(MFN2):c.1854del (p.Val620fs)
|
|
|
NM_014874.4(MFN2):c.1892G>A (p.Trp631Ter)
|
|
|
NM_014874.4(MFN2):c.2037C>G (p.Tyr679Ter)
|
rs1569871830
|
|
NM_014874.4(MFN2):c.2054_2069+1171del
|
|
|
NM_014874.4(MFN2):c.205G>T (p.Val69Phe)
|
rs28940296
|
|
NM_014874.4(MFN2):c.2092del (p.His698fs)
|
rs1569882539
|
|
NM_014874.4(MFN2):c.2129T>C (p.Leu710Pro)
|
rs1557537223
|
|
NM_014874.4(MFN2):c.214dup (p.Glu72fs)
|
|
|
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.2213C>T (p.Ala738Val)
|
rs1569889919
|
|
NM_014874.4(MFN2):c.2219G>C (p.Trp740Ser)
|
rs28940292
|
|
NM_014874.4(MFN2):c.2222T>G (p.Leu741Trp)
|
rs1553146559
|
|
NM_014874.4(MFN2):c.2230G>A (p.Glu744Lys)
|
rs1064794571
|
|
NM_014874.4(MFN2):c.2249_2250del (p.His750fs)
|
|
|
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.227T>C (p.Leu76Pro)
|
rs28940293
|
|
NM_014874.4(MFN2):c.245del (p.Leu82fs)
|
rs2100812695
|
|
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.271_274del (p.Val91fs)
|
|
|
NM_014874.4(MFN2):c.275T>C (p.Leu92Pro)
|
rs1569816285
|
|
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>G (p.Arg95Gly)
|
rs1060501920
|
|
NM_014874.4(MFN2):c.283_285del (p.Arg95del)
|
rs1638740322
|
|
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.299C>G (p.Ala100Gly)
|
rs1553141707
|
|
NM_014874.4(MFN2):c.310C>T (p.Arg104Trp)
|
rs119103268
|
|
NM_014874.4(MFN2):c.311G>T (p.Arg104Leu)
|
rs863224068
|
|
NM_014874.4(MFN2):c.312-16_314del
|
rs2100822209
|
|
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.318C>G (p.Ser106Arg)
|
rs778937659
|
|
NM_014874.4(MFN2):c.322G>A (p.Gly108Arg)
|
rs1569829573
|
|
NM_014874.4(MFN2):c.326A>G (p.Lys109Arg)
|
rs1553142436
|
|
NM_014874.4(MFN2):c.358A>G (p.Lys120Glu)
|
|
|
NM_014874.4(MFN2):c.361del (p.Val121fs)
|
|
|
NM_014874.4(MFN2):c.382C>T (p.His128Tyr)
|
rs2100822486
|
|
NM_014874.4(MFN2):c.406dup (p.Val136fs)
|
rs759844257
|
|
NM_014874.4(MFN2):c.436C>T (p.Leu146Phe)
|
rs863224969
|
|
NM_014874.4(MFN2):c.467G>T (p.Ser156Ile)
|
rs1557521949
|
|
NM_014874.4(MFN2):c.475-1G>C
|
rs1569834500
|
|
NM_014874.4(MFN2):c.475-2A>G
|
rs1557522794
|
|
NM_014874.4(MFN2):c.475-7_478del
|
rs2100825988
|
|
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>G (p.His165Arg)
|
rs863224970
|
|
NM_014874.4(MFN2):c.497C>T (p.Ala166Val)
|
rs1557522849
|
|
NM_014874.4(MFN2):c.505C>T (p.Gln169Ter)
|
|
|
NM_014874.4(MFN2):c.555del (p.Ser186fs)
|
|
|
NM_014874.4(MFN2):c.600-31T>G
|
|
|
NM_014874.4(MFN2):c.617C>T (p.Thr206Ile)
|
rs119103266
|
|
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.650G>T (p.Cys217Phe)
|
rs1569842458
|
|
NM_014874.4(MFN2):c.653T>C (p.Leu218Pro)
|
rs879253925
|
|
NM_014874.4(MFN2):c.658G>A (p.Ala220Thr)
|
rs1639045345
|
|
NM_014874.4(MFN2):c.674_680del (p.Leu225fs)
|
rs1060501915
|
|
NM_014874.4(MFN2):c.690G>T (p.Glu230Asp)
|
rs1569842685
|
|
NM_014874.4(MFN2):c.703C>T (p.Gln235Ter)
|
rs879254210
|
|
NM_014874.4(MFN2):c.705G>C (p.Gln235His)
|
|
|
NM_014874.4(MFN2):c.705G>T (p.Gln235His)
|
|
|
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.730G>A (p.Val244Met)
|
rs879253777
|
|
NM_014874.4(MFN2):c.730G>T (p.Val244Leu)
|
rs879253777
|
|
NM_014874.4(MFN2):c.746C>T (p.Ser249Phe)
|
rs794729198
|
|
NM_014874.4(MFN2):c.748del (p.Arg250fs)
|
|
|
NM_014874.4(MFN2):c.751C>G (p.Pro251Ala)
|
rs28940295
|
|
NM_014874.4(MFN2):c.752C>T (p.Pro251Leu)
|
rs1557525153
|
|
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)
|
|
|
NM_014874.4(MFN2):c.818T>G (p.Val273Gly)
|
rs1458700065
|
|
NM_014874.4(MFN2):c.827A>G (p.Gln276Arg)
|
rs119103264
|
|
NM_014874.4(MFN2):c.828G>T (p.Gln276His)
|
rs1569851570
|
|
NM_014874.4(MFN2):c.839G>A (p.Arg280His)
|
rs28940294
|
|
NM_014874.4(MFN2):c.880C>T (p.Arg294Ter)
|
rs866604005
|
|
NM_014874.4(MFN2):c.922G>T (p.Glu308Ter)
|
rs1553143852
|
|