NM_014629.4(ARHGEF10):c.2197C>T (p.His733Tyr)
|
rs147531758
|
0.00123
|
NM_170707.4(LMNA):c.1930C>T (p.Arg644Cys)
|
rs142000963
|
0.00117
|
NM_024577.4(SH3TC2):c.2860C>T (p.Arg954Ter)
|
rs80338933
|
0.00067
|
NM_022041.4(GAN):c.730A>G (p.Ile244Val)
|
rs200749953
|
0.00051
|
NM_024577.4(SH3TC2):c.3550A>G (p.Met1184Val)
|
rs142451273
|
0.00051
|
NM_000166.6(GJB1):c.688C>T (p.Arg230Cys)
|
rs587781246
|
0.00014
|
NM_001005361.3(DNM2):c.1241A>G (p.Lys414Arg)
|
rs199927590
|
0.00011
|
NM_001605.3(AARS1):c.497T>G (p.Ile166Ser)
|
rs199997425
|
0.00010
|
NM_004082.5(DCTN1):c.2353C>T (p.Arg785Trp)
|
rs121909344
|
0.00010
|
NM_001365951.3(KIF1B):c.899A>G (p.Lys300Arg)
|
rs373698346
|
0.00009
|
NM_016156.6(MTMR2):c.810A>C (p.Leu270Phe)
|
rs587779385
|
0.00007
|
NM_001113491.2(SEPTIN9):c.866G>A (p.Arg289His)
|
rs587781247
|
0.00003
|
NM_001540.5(HSPB1):c.380G>T (p.Arg127Leu)
|
rs587781250
|
0.00003
|
NM_024577.4(SH3TC2):c.1342G>C (p.Asp448His)
|
rs587781252
|
0.00003
|
NM_014629.4(ARHGEF10):c.1013G>C (p.Arg338Thr)
|
rs587777712
|
0.00002
|
NM_002047.4(GARS1):c.95T>C (p.Leu32Pro)
|
rs863223328
|
0.00001
|
NM_015046.7(SETX):c.6792A>G (p.Ile2264Met)
|
rs148041889
|
0.00001
|
NM_022041.4(GAN):c.1084G>A (p.Glu362Lys)
|
rs587779384
|
0.00001
|
NM_022041.4(GAN):c.23C>G (p.Ser8Cys)
|
rs587781251
|
0.00001
|
NM_001126131.1(POLG):c.[1491G>C(;)2243G>C]
|
|
|
NM_001261413.2(DCTN2):c.322C>T (p.His108Tyr)
|
rs863223327
|
|
NM_001376.5(DYNC1H1):c.1700G>A (p.Arg567His)
|
rs587781253
|
|
NM_014874.4(MFN2):c.310C>T (p.Arg104Trp)
|
rs119103268
|
|
NM_015046.5(SETX):c.[59G>A(;)3809C>T]
|
|
|
NM_015046.7(SETX):c.3075_3076insTGA (p.Arg1026Ter)
|
rs587781249
|
|
NM_016156.6(MTMR2):c.*53G>A
|
rs587779387
|
|
Single allele
|
|
|