NM_014874.4(MFN2):c.2113G>A (p.Val705Ile)
|
rs142271930
|
0.00621
|
NM_014874.4(MFN2):c.892G>A (p.Gly298Arg)
|
rs41278630
|
0.00221
|
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.2119C>T (p.Arg707Trp)
|
rs119103267
|
0.00029
|
NM_014874.4(MFN2):c.1101G>C (p.Gln367His)
|
rs373211062
|
0.00024
|
NM_014874.4(MFN2):c.842G>C (p.Cys281Ser)
|
rs147136530
|
0.00010
|
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.1253G>A (p.Arg418Gln)
|
rs766998571
|
0.00001
|
NM_014874.4(MFN2):c.1292C>T (p.Ser431Leu)
|
rs764374251
|
0.00001
|
NM_014874.4(MFN2):c.2258dup (p.Gln754fs)
|
rs773371488
|
0.00001
|
NM_014874.4(MFN2):c.404G>A (p.Arg135Gln)
|
rs1443036026
|
0.00001
|
GRCh37/hg19 1p36.22(chr1:12058633-12059409)x1
|
|
|
NM_014874.3:c.600_816del
|
|
|
NM_014874.4(MFN2):c.107AGA[2] (p.Lys38del)
|
rs1478175861
|
|
NM_014874.4(MFN2):c.1160+1G>A
|
rs1553144086
|
|
NM_014874.4(MFN2):c.1385A>G (p.Tyr462Cys)
|
rs2100849130
|
|
NM_014874.4(MFN2):c.1511T>C (p.Leu504Pro)
|
rs1553145023
|
|
NM_014874.4(MFN2):c.154G>A (p.Glu52Lys)
|
rs1553141017
|
|
NM_014874.4(MFN2):c.1555C>T (p.Arg519Cys)
|
rs369140232
|
|
NM_014874.4(MFN2):c.1963A>G (p.Lys655Glu)
|
rs1639459062
|
|
NM_014874.4(MFN2):c.2120G>A (p.Arg707Gln)
|
|
|
NM_014874.4(MFN2):c.2219G>C (p.Trp740Ser)
|
rs28940292
|
|
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.281G>A (p.Arg94Gln)
|
rs28940291
|
|
NM_014874.4(MFN2):c.310C>T (p.Arg104Trp)
|
rs119103268
|
|
NM_014874.4(MFN2):c.322G>A (p.Gly108Arg)
|
rs1569829573
|
|
NM_014874.4(MFN2):c.462GAG[1] (p.Arg155del)
|
|
|
NM_014874.4(MFN2):c.491C>T (p.Ala164Val)
|
rs1553142699
|
|
NM_014874.4(MFN2):c.526G>A (p.Gly176Ser)
|
rs879253862
|
|
NM_014874.4(MFN2):c.564C>T (p.Cys188=)
|
rs536007087
|
|
NM_014874.4(MFN2):c.600-31T>G
|
|
|