NM_000146.4(FTL):c.163T>C (p.Leu55=)
|
rs2230267
|
0.51379
|
NM_002103.5(GYS1):c.*725C>T
|
rs1042265
|
0.08927
|
NM_002103.5(GYS1):c.*841A>G
|
rs75797604
|
0.01139
|
NM_002103.5(GYS1):c.1926G>A (p.Val642=)
|
rs5451
|
0.00912
|
NM_002103.5(GYS1):c.*908G>A
|
rs117997270
|
0.00664
|
NM_002103.5(GYS1):c.2013C>T (p.Asp671=)
|
rs5452
|
0.00624
|
NM_002103.5(GYS1):c.*450G>A
|
rs3745693
|
0.00414
|
NM_000146.4(FTL):c.522C>T (p.His174=)
|
rs73046709
|
0.00184
|
NM_002103.5(GYS1):c.*301G>A
|
rs147489255
|
0.00165
|
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_000146.4(FTL):c.*24C>T
|
rs368083362
|
0.00037
|
NM_002103.5(GYS1):c.2043C>T (p.Ala681=)
|
rs142265031
|
0.00023
|
NM_000146.4(FTL):c.169G>A (p.Glu57Lys)
|
rs201241191
|
0.00016
|
NM_002103.5(GYS1):c.*370A>C
|
rs185366453
|
0.00015
|
NM_000146.4(FTL):c.250-6A>G
|
rs370216913
|
0.00009
|
NM_002103.5(GYS1):c.*659C>T
|
rs367578611
|
0.00006
|
NM_000146.4(FTL):c.*8C>T
|
rs373178636
|
0.00005
|
NM_002103.5(GYS1):c.2207G>A (p.Arg736His)
|
rs367919986
|
0.00004
|
NM_000146.4(FTL):c.474G>A (p.Pro158=)
|
rs758414077
|
0.00003
|
NM_000146.4(FTL):c.73C>T (p.Leu25=)
|
rs201971200
|
0.00003
|
NM_002103.5(GYS1):c.*611C>T
|
rs370792196
|
0.00003
|
NM_000146.4(FTL):c.-46C>A
|
rs768457741
|
0.00002
|
NM_000146.4(FTL):c.*131A>T
|
rs374919004
|
0.00001
|
NM_000146.4(FTL):c.-86C>T
|
rs1319264120
|
0.00001
|
NM_000146.4(FTL):c.-92T>C
|
rs886054563
|
0.00001
|
NM_000146.4(FTL):c.286G>A (p.Ala96Thr)
|
rs104894685
|
0.00001
|
NM_000146.4(FTL):c.362G>A (p.Arg121His)
|
rs769449169
|
0.00001
|
NM_000146.4(FTL):c.*76G>A
|
rs2038463168
|
|
NM_000146.4(FTL):c.-173C>G
|
rs1053572388
|
|
NM_000146.4(FTL):c.-186C>A
|
rs981348025
|
|
NM_000146.4(FTL):c.103-14A>C
|
rs769222073
|
|
NM_000146.4(FTL):c.103-14A>G
|
rs769222073
|
|
NM_000146.4(FTL):c.181G>A (p.Glu61Lys)
|
rs2038446561
|
|
NM_000146.4(FTL):c.232C>T (p.Leu78Phe)
|
rs751857518
|
|
NM_000146.4(FTL):c.234C>T (p.Leu78=)
|
rs559383814
|
|
NM_000146.4(FTL):c.324C>T (p.Asn108=)
|
rs754652110
|
|
NM_000146.4(FTL):c.439_442dup (p.His148fs)
|
rs2122435944
|
|
NM_000146.4(FTL):c.442dup (p.His148fs)
|
rs2122435950
|
|
NM_000146.4(FTL):c.458dup (p.His153fs)
|
rs587776840
|
|
NM_000146.4(FTL):c.460dup (p.Arg154fs)
|
rs2122436083
|
|
NM_000146.4(FTL):c.469_484dup (p.Leu162fs)
|
rs398124640
|
|
NM_000146.4(FTL):c.485_489dup (p.Glu164fs)
|
rs2122436225
|
|
NM_000146.4(FTL):c.498_499dup (p.Phe167fs)
|
rs1114167274
|
|
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
|
|