NM_002591.4(PCK1):c.925G>A (p.Gly309Arg)
|
rs201186470
|
0.00113
|
NM_003754.3(EIF3F):c.694T>G (p.Phe232Val)
|
rs141976414
|
0.00080
|
NM_016042.4(EXOSC3):c.395A>C (p.Asp132Ala)
|
rs141138948
|
0.00048
|
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe)
|
rs5030868
|
0.00028
|
NM_001164277.2(SLC37A4):c.1042_1043del (p.Leu348fs)
|
rs80356491
|
0.00026
|
NM_000152.5(GAA):c.877G>A (p.Gly293Arg)
|
rs121907945
|
0.00003
|
NM_000642.3(AGL):c.2039G>A (p.Trp680Ter)
|
rs113994129
|
0.00002
|
NM_016042.4(EXOSC3):c.92G>C (p.Gly31Ala)
|
rs387907196
|
0.00002
|
NM_018297.4(NGLY1):c.1025A>G (p.Tyr342Cys)
|
rs757712371
|
0.00002
|
NM_001164277.2(SLC37A4):c.110C>A (p.Ser37Ter)
|
rs1444468055
|
0.00001
|
NM_001370658.1(BTD):c.124G>A (p.Val42Met)
|
rs397507170
|
0.00001
|
NM_003477.3(PDHX):c.1336C>T (p.Arg446Ter)
|
rs1135402725
|
0.00001
|
GRCh37/hg19 11p15.1(chr11:18418095-18422557)
|
|
|
GRCh37/hg19 16q24.2(chr16:87969915-87970056)
|
|
|
NM_000147.5(FUCA1):c.564G>A (p.Trp188Ter)
|
rs189315801
|
|
NM_000203.5(IDUA):c.606C>A (p.Tyr202Ter)
|
rs1033313360
|
|
NM_000284.4(PDHA1):c.491A>G (p.Asn164Ser)
|
rs1555933963
|
|
NM_000284.4(PDHA1):c.615C>G (p.Phe205Leu)
|
rs137853254
|
|
NM_000284.4(PDHA1):c.642G>T (p.Trp214Cys)
|
rs1569191659
|
|
NM_000284.4(PDHA1):c.738C>T (p.Gly246=)
|
rs1555934379
|
|
NM_000284.4(PDHA1):c.787C>G (p.Arg263Gly)
|
rs137853259
|
|
NM_000284.4(PDHA1):c.930AAG[1] (p.Arg311del)
|
rs1555935223
|
|
NM_000284.4(PDHA1):c.936_939del (p.Ser312fs)
|
rs863224153
|
|
NM_000292.3(PHKA2):c.235C>T (p.Gln79Ter)
|
rs1601780766
|
|
NM_000507.4(FBP1):c.881G>A (p.Gly294Glu)
|
|
|
NM_000545.8(HNF1A):c.863_864insC (p.Pro289fs)
|
rs766191969
|
|
NM_000642.3(AGL):c.24_25del (p.Ile9fs)
|
rs1648909681
|
|
NM_001040716.2(PC):c.449_451dup (p.Gly150dup)
|
rs1946724126
|
|
NM_001370658.1(BTD):c.772C>G (p.Leu258Val)
|
rs397514388
|
|
NM_002294.3(LAMP2):c.718C>T (p.Gln240Ter)
|
rs1556101420
|
|
NM_002294.3(LAMP2):c.928G>A (p.Val310Ile)
|
rs104894858
|
|
NM_006516.4(SLC2A1):c.101A>G (p.Asn34Ser)
|
rs80359812
|
|
NM_006516.4(SLC2A1):c.493G>A (p.Val165Ile)
|
rs1057520545
|
|
NM_006516.4(SLC2A1):c.500del (p.Gly167fs)
|
|
|
NM_006516.4(SLC2A1):c.732del (p.Met244fs)
|
rs1553156069
|
|
NM_006516.4(SLC2A1):c.997C>T (p.Arg333Trp)
|
rs80359825
|
|
NM_006618.5(KDM5B):c.2830dup (p.Leu944fs)
|
|
|
NM_018297.4(NGLY1):c.1533_1536del (p.Asn511fs)
|
rs765211108
|
|
NM_024735.5(FBXO31):c.1000G>A (p.Asp334Asn)
|
rs2150668444
|
|
NM_031229.4(RBCK1):c.896_899del (p.Glu299fs)
|
rs727503764
|
|
NM_175914.5(HNF4A):c.335G>A (p.Arg112Gln)
|
rs1085307913
|
|