NM_000402.4(G6PD):c.466A>G (p.Asn156Asp)
|
rs1050829
|
0.08672
|
NM_000402.4(G6PD):c.292G>A (p.Val98Met)
|
rs1050828
|
0.03616
|
NM_001370658.1(BTD):c.1270G>C (p.Asp424His)
|
rs13078881
|
0.03225
|
NM_000152.5(GAA):c.-32-13T>G
|
rs386834236
|
0.00384
|
NM_000262.3(NAGA):c.973G>A (p.Glu325Lys)
|
rs121434529
|
0.00225
|
NM_000155.4(GALT):c.563A>G (p.Gln188Arg)
|
rs75391579
|
0.00192
|
NM_017721.5(CC2D1A):c.1357-2A>C
|
rs200557641
|
0.00164
|
NM_005609.4(PYGM):c.660G>A (p.Gln220=)
|
rs142234258
|
0.00161
|
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_000108.5(DLD):c.685G>T (p.Gly229Cys)
|
rs121964990
|
0.00016
|
NM_000035.4(ALDOB):c.1013C>T (p.Ala338Val)
|
rs77718928
|
0.00010
|
NM_017721.5(CC2D1A):c.460G>A (p.Ala154Thr)
|
rs202025962
|
0.00007
|
NM_000152.5(GAA):c.266G>A (p.Arg89His)
|
rs200586324
|
0.00006
|
NM_000152.5(GAA):c.953T>C (p.Met318Thr)
|
rs121907936
|
0.00006
|
NM_000343.4(SLC5A1):c.187C>T (p.Arg63Ter)
|
rs202166715
|
0.00003
|
NM_000507.4(FBP1):c.472C>T (p.Arg158Trp)
|
rs766005419
|
0.00002
|
NM_024989.4(PGAP1):c.843C>A (p.Asp281Glu)
|
rs1176534322
|
0.00002
|
NM_000162.5(GCK):c.676G>A (p.Val226Met)
|
rs148311934
|
0.00001
|
NM_000294.3(PHKG2):c.553C>T (p.Arg185Ter)
|
rs1270523244
|
0.00001
|
NM_000507.4(FBP1):c.778G>A (p.Gly260Arg)
|
rs780803192
|
0.00001
|
NM_000512.5(GALNS):c.452C>T (p.Pro151Leu)
|
rs559063128
|
0.00001
|
NM_000642.3(AGL):c.100C>T (p.Arg34Ter)
|
rs781580050
|
0.00001
|
NM_000642.3(AGL):c.1078C>T (p.His360Tyr)
|
rs763554006
|
0.00001
|
NM_001160372.4(TRAPPC9):c.2551G>A (p.Val851Met)
|
rs1029565906
|
0.00001
|
NM_001160372.4(TRAPPC9):c.2741C>T (p.Thr914Ile)
|
rs1339133695
|
0.00001
|
NM_001164277.2(SLC37A4):c.936dup (p.Val313fs)
|
rs782172072
|
0.00001
|
NM_024989.4(PGAP1):c.1352T>A (p.Phe451Tyr)
|
rs780043187
|
0.00001
|
NC_000017.11:g.42910915_42911427del
|
rs2056090806
|
|
NM_000030.3(AGXT):c.302T>C (p.Leu101Pro)
|
rs180177195
|
|
NM_000046.5(ARSB):c.264G>T (p.Gln88His)
|
rs750947605
|
|
NM_000147.5(FUCA1):c.691G>A (p.Gly231Arg)
|
rs1639470403
|
|
NM_000151.4(G6PC1):c.61del (p.Gln20_Val21insTer)
|
rs2056021430
|
|
NM_000155.4(GALT):c.377+1G>T
|
rs111033681
|
|
NM_000203.5(IDUA):c.1190-10_*10del
|
|
|
NM_000294.3(PHKG2):c.454C>T (p.Arg152Ter)
|
rs772912966
|
|
NM_000352.6(ABCC8):c.526dup (p.Val176fs)
|
rs1847952281
|
|
NM_000402.4(G6PD):c.577G>A (p.Gly193Ser)
|
rs137852314
|
|
NM_000507.4(FBP1):c.841G>A (p.Glu281Lys)
|
rs566453434
|
|
NM_000512.5(GALNS):c.1019G>A (p.Gly340Asp)
|
rs267606838
|
|
NM_000512.5(GALNS):c.121-202A>G
|
rs550044789
|
|
NM_000512.5(GALNS):c.1474G>A (p.Ala492Thr)
|
rs760300454
|
|
NM_000512.5(GALNS):c.423-862C>T
|
rs1597575641
|
|
NM_000512.5(GALNS):c.498C>G (p.His166Gln)
|
rs1301198698
|
|
NM_000528.4(MAN2B1):c.1644+4A>G
|
rs1218254964
|
|
NM_000528.4(MAN2B1):c.2356-2A>G
|
rs1064793936
|
|
NM_000642.3(AGL):c.1497_1500dup (p.Asp501fs)
|
rs1204840140
|
|
NM_000642.3(AGL):c.2399dup (p.Asp801fs)
|
rs1652268068
|
|
NM_000642.3(AGL):c.567dup (p.Arg190Ter)
|
rs1650334882
|
|
NM_000642.3(AGL):c.753_756del (p.Asp251fs)
|
rs748789700
|
|
NM_001080510.5(METTL23):c.169_172del (p.His57fs)
|
rs587777644
|
|
NM_001164277.2(SLC37A4):c.169_175del (p.Ser57fs)
|
rs782501672
|
|
NM_001164277.2(SLC37A4):c.92_94del (p.Phe31del)
|
rs1432360280
|
|
NM_001370658.1(BTD):c.1448_1452del (p.Gly483fs)
|
rs398123138
|
|
NM_001370658.1(BTD):c.38_44delinsTCC (p.Cys13fs)
|
rs80338684
|
|
NM_001370658.1(BTD):c.817G>C (p.Gly273Arg)
|
rs762757117
|
|
NM_001715.3(BLK):c.956G>T (p.Cys319Phe)
|
rs1563123027
|
|
NM_001739.2(CA5A):c.580C>T (p.Gln194Ter)
|
rs2055884613
|
|
NM_002637.4(PHKA1):c.182A>G (p.Tyr61Cys)
|
rs2054403362
|
|
NM_003384.3(VRK1):c.1066A>T (p.Lys356Ter)
|
rs1223645705
|
|
NM_003384.3(VRK1):c.706G>A (p.Val236Met)
|
rs771364038
|
|
NM_017755.6(NSUN2):c.1020del (p.Gly341fs)
|
rs1579368865
|
|
NM_053013.4(ENO3):c.1194dup (p.Cys399fs)
|
rs757440599
|
|
NM_053013.4(ENO3):c.452A>G (p.Asn151Ser)
|
rs560867570
|
|