NM_002103.5(GYS1):c.*841A>G
|
rs75797604
|
0.01139
|
NM_002103.5(GYS1):c.1926G>A (p.Val642=)
|
rs5451
|
0.00912
|
NM_001386393.1(PANK2):c.189C>G (p.Pro63=)
|
rs71647829
|
0.00808
|
NM_033305.3(VPS13A):c.8676C>T (p.Ile2892=)
|
rs117485827
|
0.00672
|
NM_002103.5(GYS1):c.*908G>A
|
rs117997270
|
0.00664
|
NM_002103.5(GYS1):c.2013C>T (p.Asp671=)
|
rs5452
|
0.00624
|
NM_153638.4(PANK2):c.276G>A (p.Arg92=)
|
rs142832849
|
0.00544
|
NM_033305.3(VPS13A):c.5979C>T (p.Arg1993=)
|
rs41289971
|
0.00487
|
NM_033305.3(VPS13A):c.3083A>G (p.Glu1028Gly)
|
rs148656796
|
0.00425
|
NM_033305.3(VPS13A):c.2037+8C>A
|
rs41289961
|
0.00417
|
NM_002103.5(GYS1):c.*450G>A
|
rs3745693
|
0.00414
|
NM_033305.3(VPS13A):c.5884C>T (p.Arg1962Cys)
|
rs149694033
|
0.00397
|
NM_153638.4(PANK2):c.137A>T (p.Asp46Val)
|
rs148036492
|
0.00346
|
NM_033305.3(VPS13A):c.2667+12G>A
|
rs199995355
|
0.00342
|
NM_033305.3(VPS13A):c.101-7T>C
|
rs190684534
|
0.00338
|
NM_033305.3(VPS13A):c.775A>G (p.Asn259Asp)
|
rs41307461
|
0.00255
|
NM_033305.3(VPS13A):c.4642G>A (p.Glu1548Lys)
|
rs41289967
|
0.00213
|
NM_033305.3(VPS13A):c.3356G>A (p.Gly1119Glu)
|
rs144358567
|
0.00207
|
NM_033305.3(VPS13A):c.1758T>C (p.Ala586=)
|
rs149037185
|
0.00199
|
NM_033305.3(VPS13A):c.5831-8T>C
|
rs113702270
|
0.00190
|
NM_033305.3(VPS13A):c.9078-7C>T
|
rs186819389
|
0.00183
|
NM_153638.4(PANK2):c.-11G>A
|
rs71647826
|
0.00179
|
NM_002103.5(GYS1):c.*301G>A
|
rs147489255
|
0.00165
|
NM_001386393.1(PANK2):c.489G>A (p.Leu163=)
|
rs71647837
|
0.00164
|
NM_002103.5(GYS1):c.1848C>T (p.Ala616=)
|
rs145789213
|
0.00163
|
NM_002103.5(GYS1):c.*421A>G
|
rs181566066
|
0.00098
|
NM_002103.5(GYS1):c.*868A>G
|
rs571576339
|
0.00083
|
NM_033305.3(VPS13A):c.6096-7C>T
|
rs190144287
|
0.00061
|
NM_033305.3(VPS13A):c.7456A>G (p.Ile2486Val)
|
rs142981309
|
0.00030
|
NM_033305.3(VPS13A):c.2124A>G (p.Ser708=)
|
rs199682779
|
0.00029
|
NM_002103.5(GYS1):c.2043C>T (p.Ala681=)
|
rs142265031
|
0.00023
|
NM_033305.3(VPS13A):c.1453-15C>T
|
rs200334710
|
0.00020
|
NM_002103.5(GYS1):c.*370A>C
|
rs185366453
|
0.00015
|
NM_153638.4(PANK2):c.280C>G (p.Arg94Gly)
|
rs199680057
|
0.00015
|
NM_001386393.1(PANK2):c.624G>A (p.Ala208=)
|
rs78631398
|
0.00006
|
NM_002103.5(GYS1):c.*659C>T
|
rs367578611
|
0.00006
|
NM_002103.5(GYS1):c.2207G>A (p.Arg736His)
|
rs367919986
|
0.00004
|
NM_002103.5(GYS1):c.*611C>T
|
rs370792196
|
0.00003
|
NM_000146.4(FTL):c.362G>A (p.Arg121His)
|
rs769449169
|
0.00001
|
NM_000146.4(FTL):c.103-14A>C
|
rs769222073
|
|
NM_001386393.1(PANK2):c.*63dup
|
rs143725982
|
|
NM_001386393.1(PANK2):c.1083-14_1083-13insCCCCCT
|
rs1555789541
|
|
NM_002103.5(GYS1):c.*1113_*1116del
|
rs148396922
|
|
NM_002103.5(GYS1):c.1615G>A (p.Glu539Lys)
|
rs561646250
|
|
NM_002103.5(GYS1):c.1749C>A (p.Ile583=)
|
rs146698792
|
|
NM_033305.3(VPS13A):c.283+20del
|
rs199782752
|
|
NM_033305.3(VPS13A):c.3961-6del
|
rs3216012
|
|
NM_033305.3(VPS13A):c.6039C>A (p.Thr2013=)
|
rs528628591
|
|
NM_033305.3(VPS13A):c.6880-6dup
|
rs140476942
|
|