|
NM_000035.4(ALDOB):c.448G>C (p.Ala150Pro)
|
rs1800546
|
0.00319
|
|
NM_000030.3(AGXT):c.508G>A (p.Gly170Arg)
|
rs121908529
|
0.00067
|
|
NM_000035.4(ALDOB):c.524C>A (p.Ala175Asp)
|
rs76917243
|
0.00030
|
|
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_000263.4(NAGLU):c.1876C>T (p.Arg626Ter)
|
rs104894591
|
0.00013
|
|
NM_000642.3(AGL):c.2590C>T (p.Arg864Ter)
|
rs113994130
|
0.00006
|
|
NM_000030.3(AGXT):c.847-3C>G
|
rs180177286
|
0.00003
|
|
NM_000162.5(GCK):c.142G>A (p.Glu48Lys)
|
rs759514960
|
0.00003
|
|
NM_000512.5(GALNS):c.281G>A (p.Arg94His)
|
rs727503946
|
0.00001
|
|
NM_000512.5(GALNS):c.719A>G (p.Tyr240Cys)
|
rs752039956
|
0.00001
|
|
NM_005609.4(PYGM):c.107T>G (p.Leu36Arg)
|
rs1394188143
|
0.00001
|
|
GRCh37/hg19 9q22.32(chr9:97401423-97401592)
|
|
|
|
NM_000035.4(ALDOB):c.1005C>G (p.Asn335Lys)
|
rs78340951
|
|
|
NM_000202.8(IDS):c.413A>G (p.His138Arg)
|
|
|
|
NM_000284.4(PDHA1):c.749C>T (p.Pro250Leu)
|
rs1602227679
|
|
|
NM_000292.3(PHKA2):c.134G>A (p.Arg45Gln)
|
rs1601781024
|
|
|
NM_000298.6(PKLR):c.1373G>A (p.Gly458Asp)
|
rs755522396
|
|
|
NM_000298.6(PKLR):c.224T>C (p.Leu75Pro)
|
rs2148218886
|
|
|
NM_000458.4(HNF1B):c.443C>T (p.Ser148Leu)
|
|
|
|
NM_000507.4(FBP1):c.170+4A>G
|
|
|
|
NM_000512.5(GALNS):c.850TTC[1] (p.Phe285del)
|
rs768664270
|
|
|
NM_000891.3(KCNJ2):c.652C>T (p.Arg218Trp)
|
rs104894578
|
|
|
NM_001243177.4(ALDOA):c.1001C>T (p.Ala334Val)
|
rs2151019295
|
|
|
NM_001243177.4(ALDOA):c.1178G>A (p.Cys393Tyr)
|
rs2151019809
|
|
|
NM_005609.4(PYGM):c.2113_2114del (p.Gly705fs)
|
rs2058347214
|
|
|
NM_006516.4(SLC2A1):c.250G>A (p.Gly84Ser)
|
|
|
|
NM_006516.4(SLC2A1):c.484C>G (p.Leu162Val)
|
|
|
|
NM_020374.4(C12orf4):c.1168_1169delinsC (p.Gly390fs)
|
|
|
|
NM_198586.3(NHLRC1):c.583del (p.Asp195fs)
|
rs2150703022
|
|