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.2119C>T (p.Arg707Trp)
|
rs119103267
|
0.00029
|
NM_014874.4(MFN2):c.749G>A (p.Arg250Gln)
|
rs140234726
|
0.00019
|
NM_014874.4(MFN2):c.1987C>T (p.Arg663Cys)
|
rs369762154
|
0.00011
|
NM_014874.4(MFN2):c.821G>A (p.Arg274Gln)
|
rs768407445
|
0.00003
|
NM_014874.4(MFN2):c.1895G>A (p.Arg632Gln)
|
rs760375604
|
0.00002
|
NM_014874.4(MFN2):c.334G>A (p.Val112Met)
|
rs757937208
|
0.00002
|
NM_014874.4(MFN2):c.809T>C (p.Met270Thr)
|
rs771996573
|
0.00002
|
NM_014874.4(MFN2):c.1145C>T (p.Ala382Val)
|
rs201165591
|
0.00001
|
NM_014874.4(MFN2):c.395G>A (p.Cys132Tyr)
|
rs1569830013
|
0.00001
|
NM_014874.4(MFN2):c.748C>T (p.Arg250Trp)
|
rs373107074
|
0.00001
|
NC_000001.10:g.(?_12052592)_(12052767_?)dup
|
|
|
NC_000001.10:g.(?_12052592)_(12057498_?)dup
|
|
|
NC_000001.10:g.(?_12052602)_(12057488_?)dup
|
|
|
NC_000001.10:g.(?_12057334)_(12059172_?)del
|
|
|
NC_000001.10:g.(?_12058807)_(12059172_?)dup
|
|
|
NM_014874.4(MFN2):c.1070A>C (p.Lys357Thr)
|
rs2100841033
|
|
NM_014874.4(MFN2):c.107AGA[2] (p.Lys38del)
|
rs1478175861
|
|
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.1091G>T (p.Arg364Leu)
|
rs879254011
|
|
NM_014874.4(MFN2):c.1127T>C (p.Met376Thr)
|
rs1569854342
|
|
NM_014874.4(MFN2):c.1160+1G>A
|
rs1553144086
|
|
NM_014874.4(MFN2):c.1287+1G>C
|
rs1639299226
|
|
NM_014874.4(MFN2):c.1426C>G (p.Arg476Gly)
|
rs1266361856
|
|
NM_014874.4(MFN2):c.145T>G (p.Tyr49Asp)
|
rs2100802936
|
|
NM_014874.4(MFN2):c.1496-2A>G
|
rs1483207355
|
|
NM_014874.4(MFN2):c.1894C>T (p.Arg632Trp)
|
rs772701127
|
|
NM_014874.4(MFN2):c.1946G>C (p.Arg649Pro)
|
rs763492075
|
|
NM_014874.4(MFN2):c.2120G>C (p.Arg707Pro)
|
rs375937289
|
|
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.2170C>G (p.Leu724Val)
|
rs2523122904
|
|
NM_014874.4(MFN2):c.2171T>C (p.Leu724Pro)
|
rs1557537346
|
|
NM_014874.4(MFN2):c.2212G>A (p.Ala738Thr)
|
rs1553146551
|
|
NM_014874.4(MFN2):c.2220G>T (p.Trp740Cys)
|
rs1060501925
|
|
NM_014874.4(MFN2):c.2231A>G (p.Glu744Gly)
|
rs1131691782
|
|
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.262A>C (p.Ile88Leu)
|
rs1569816194
|
|
NM_014874.4(MFN2):c.264C>G (p.Ile88Met)
|
rs1553141680
|
|
NM_014874.4(MFN2):c.281G>T (p.Arg94Leu)
|
rs28940291
|
|
NM_014874.4(MFN2):c.292A>G (p.Lys98Glu)
|
rs1553141706
|
|
NM_014874.4(MFN2):c.311G>T (p.Arg104Leu)
|
rs863224068
|
|
NM_014874.4(MFN2):c.317G>A (p.Ser106Asn)
|
rs2523010293
|
|
NM_014874.4(MFN2):c.326A>G (p.Lys109Arg)
|
rs1553142436
|
|
NM_014874.4(MFN2):c.379G>C (p.Gly127Arg)
|
rs2523010895
|
|
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.395G>T (p.Cys132Phe)
|
rs1569830013
|
|
NM_014874.4(MFN2):c.401T>A (p.Leu134Gln)
|
rs2100822581
|
|
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.479T>G (p.Val160Gly)
|
rs879253861
|
|
NM_014874.4(MFN2):c.494A>C (p.His165Pro)
|
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.526G>A (p.Gly176Ser)
|
rs879253862
|
|
NM_014874.4(MFN2):c.616A>G (p.Thr206Ala)
|
rs1569842296
|
|
NM_014874.4(MFN2):c.638T>A (p.Ile213Asn)
|
rs1557524703
|
|
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.658G>A (p.Ala220Thr)
|
rs1639045345
|
|
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.688G>A (p.Glu230Lys)
|
rs2100831900
|
|
NM_014874.4(MFN2):c.691T>C (p.Ser231Pro)
|
|
|
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.695C>G (p.Thr232Ser)
|
rs1569842764
|
|
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.701T>A (p.Met234Lys)
|
rs1639047697
|
|
NM_014874.4(MFN2):c.702G>A (p.Met234Ile)
|
rs2523035483
|
|
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+5CTC[2]
|
rs863224842
|
|
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.720C>A (p.Phe240Leu)
|
rs864622480
|
|
NM_014874.4(MFN2):c.724C>T (p.His242Tyr)
|
rs2523036866
|
|
NM_014874.4(MFN2):c.731T>G (p.Val244Gly)
|
rs1060501921
|
|
NM_014874.4(MFN2):c.742C>G (p.Leu248Val)
|
rs1569843694
|
|
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.752C>G (p.Pro251Arg)
|
rs1557525153
|
|
NM_014874.4(MFN2):c.775C>A (p.Arg259Ser)
|
rs587777875
|
|
NM_014874.4(MFN2):c.827A>G (p.Gln276Arg)
|
rs119103264
|
|
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.839G>C (p.Arg280Pro)
|
rs28940294
|
|
NM_014874.4(MFN2):c.880C>T (p.Arg294Ter)
|
rs866604005
|
|
NM_014874.4(MFN2):c.970+1G>T
|
rs1553143890
|
|