NM_001605.3(AARS1):c.2791G>A (p.Gly931Ser)
|
rs149377346
|
0.00718
|
NM_001605.3(AARS1):c.1685C>T (p.Thr562Ile)
|
rs148355156
|
0.00591
|
NM_015046.7(SETX):c.7640T>C (p.Ile2547Thr)
|
rs151117904
|
0.00431
|
NM_004082.5(DCTN1):c.3746C>T (p.Thr1249Ile)
|
rs72466496
|
0.00287
|
NM_014845.6(FIG4):c.122T>C (p.Ile41Thr)
|
rs121908287
|
0.00117
|
NM_001605.3(AARS1):c.2185C>T (p.Arg729Trp)
|
rs138081804
|
0.00072
|
NM_001365951.3(KIF1B):c.4211T>C (p.Val1404Ala)
|
rs200561798
|
0.00022
|
NM_015046.7(SETX):c.4273A>G (p.Lys1425Glu)
|
rs534886444
|
0.00020
|
NM_015046.7(SETX):c.1869A>C (p.Glu623Asp)
|
rs139200312
|
0.00015
|
NM_001005373.4(LRSAM1):c.1046A>G (p.Gln349Arg)
|
rs200595164
|
0.00011
|
NM_015046.7(SETX):c.1504C>T (p.Arg502Trp)
|
rs534723946
|
0.00010
|
NM_001365951.3(KIF1B):c.3407T>C (p.Ile1136Thr)
|
rs374098797
|
0.00009
|
NM_015046.7(SETX):c.4225A>T (p.Asn1409Tyr)
|
rs373375060
|
0.00005
|
NM_015046.7(SETX):c.3968G>A (p.Arg1323Gln)
|
rs369542231
|
0.00004
|
NM_018972.4(GDAP1):c.248G>C (p.Gly83Ala)
|
rs371138642
|
0.00004
|
NM_001003800.2(BICD2):c.1079C>T (p.Ala360Val)
|
rs587777884
|
0.00003
|
NM_001365951.3(KIF1B):c.2115+6213G>T
|
rs587777883
|
0.00003
|
NM_001122955.4(BSCL2):c.455A>G (p.Asn152Ser)
|
rs137852972
|
0.00002
|
NM_000166.6(GJB1):c.790C>T (p.Arg264Cys)
|
rs587777879
|
0.00001
|
NM_001003800.2(BICD2):c.2296C>T (p.Arg766Trp)
|
rs587777889
|
0.00001
|
NM_000166.6(GJB1):c.259C>G (p.Pro87Ala)
|
rs587777877
|
|
NM_000166.6(GJB1):c.580A>G (p.Met194Val)
|
rs587777878
|
|
NM_000166.6(GJB1):c.77C>T (p.Ser26Leu)
|
rs587777876
|
|
NM_000399.5(EGR2):c.1232A>G (p.Asp411Gly)
|
rs2132702182
|
|
NM_001003800.2(BICD2):c.1993G>T (p.Val665Leu)
|
rs587777885
|
|
NM_001122955.4(BSCL2):c.1167C>T (p.Ser389=)
|
rs17850877
|
|
NM_003680.4(YARS1):c.241G>C (p.Asp81His)
|
rs587777891
|
|
NM_006158.5(NEFL):c.1007T>C (p.Leu336Pro)
|
rs587777881
|
|
NM_006158.5(NEFL):c.1319C>T (p.Pro440Leu)
|
rs587777882
|
|
NM_006158.5(NEFL):c.289C>T (p.Leu97Phe)
|
rs587777888
|
|
NM_006158.5(NEFL):c.794A>G (p.Tyr265Cys)
|
rs587777880
|
|
NM_006158.5(NEFL):c.803T>G (p.Leu268Arg)
|
rs62636502
|
|
NM_014727.3(KMT2B):c.5073C>T (p.Gly1691=)
|
rs2146461810
|
|
NM_014874.4(MFN2):c.1090C>T (p.Arg364Trp)
|
rs119103265
|
|
NM_014874.4(MFN2):c.775C>T (p.Arg259Cys)
|
rs587777875
|
|
NM_015046.7(SETX):c.7432A>C (p.Thr2478Pro)
|
rs142303658
|
|
NM_015046.7(SETX):c.8C>T (p.Thr3Ile)
|
rs28941475
|
|
NM_021625.5(TRPV4):c.1570T>G (p.Phe524Val)
|
rs587777890
|
|
NM_021625.5(TRPV4):c.549G>C (p.Glu183Asp)
|
rs141908793
|
|