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
|
0.00380
|
NM_000035.4(ALDOB):c.448G>C (p.Ala150Pro)
|
rs1800546
|
0.00319
|
NM_016219.5(MAN1B1):c.403G>A (p.Val135Ile)
|
rs75442795
|
0.00172
|
NM_000155.4(GALT):c.404C>T (p.Ser135Leu)
|
rs111033690
|
0.00094
|
NM_000151.4(G6PC1):c.247C>T (p.Arg83Cys)
|
rs1801175
|
0.00034
|
NM_031229.4(RBCK1):c.998C>T (p.Ser333Leu)
|
rs143194967
|
0.00033
|
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_000152.5(GAA):c.1979G>A (p.Arg660His)
|
rs374143224
|
0.00009
|
NM_012434.5(SLC17A5):c.406A>G (p.Lys136Glu)
|
rs80338795
|
0.00007
|
NM_006755.2(TALDO1):c.604G>A (p.Asp202Asn)
|
rs140985565
|
0.00006
|
NM_000152.5(GAA):c.1828G>A (p.Ala610Thr)
|
rs144731405
|
0.00005
|
NM_000046.5(ARSB):c.455G>A (p.Arg152Gln)
|
rs776814144
|
0.00004
|
NM_000308.4(CTSA):c.601-2A>G
|
rs778159802
|
0.00003
|
NM_000181.4(GUSB):c.1429C>T (p.Arg477Trp)
|
rs774393243
|
0.00002
|
NM_000512.5(GALNS):c.860C>T (p.Ser287Leu)
|
rs770053354
|
0.00002
|
NM_000108.5(DLD):c.684+1G>T
|
rs780025714
|
0.00001
|
NM_000155.4(GALT):c.772C>T (p.Arg258Cys)
|
rs368166217
|
0.00001
|
NM_000181.4(GUSB):c.307C>T (p.Arg103Trp)
|
rs786205673
|
0.00001
|
NM_000291.4(PGK1):c.758T>C (p.Ile253Thr)
|
rs137852534
|
0.00001
|
NM_000402.4(G6PD):c.233T>C (p.Ile78Thr)
|
rs76645461
|
0.00001
|
NM_000642.3(AGL):c.4353G>T (p.Trp1451Cys)
|
rs775685508
|
0.00001
|
NM_001807.6(CEL):c.703C>T (p.Arg235Ter)
|
rs778611627
|
0.00001
|
NM_006765.4(TUSC3):c.1028G>C (p.Ser343Thr)
|
rs1554486894
|
0.00001
|
NM_017721.5(CC2D1A):c.490C>T (p.Arg164Trp)
|
rs781491587
|
0.00001
|
NM_000030.3(AGXT):c.32C>G (p.Pro11Arg)
|
rs34116584
|
|
NM_000035.4(ALDOB):c.887G>A (p.Trp296Ter)
|
rs1249398093
|
|
NM_000046.5(ARSB):c.753C>G (p.Tyr251Ter)
|
rs765711776
|
|
NM_000152.5(GAA):c.1132_1136delinsGGCTA (p.Tyr378_Ser379delinsGlyTyr)
|
rs1598577393
|
|
NM_000152.5(GAA):c.1657C>T (p.Gln553Ter)
|
rs1221156663
|
|
NM_000155.4(GALT):c.650T>C (p.Leu217Pro)
|
rs111033741
|
|
NM_000158.4(GBE1):c.998A>T (p.Glu333Val)
|
rs1553684545
|
|
NM_000284.4(PDHA1):c.1142_1145dup (p.Trp383fs)
|
rs606231189
|
|
NM_000284.4(PDHA1):c.511G>T (p.Val171Leu)
|
rs1602226867
|
|
NM_000343.4(SLC5A1):c.765C>G (p.Cys255Trp)
|
rs888909415
|
|
NM_000507.4(FBP1):c.841G>A (p.Glu281Lys)
|
rs566453434
|
|
NM_000512.5(GALNS):c.1474G>A (p.Ala492Thr)
|
rs760300454
|
|
NM_000512.5(GALNS):c.423-862C>T
|
rs1597575641
|
|
NM_000642.3(AGL):c.113C>G (p.Thr38Ser)
|
rs1557746521
|
|
NM_001040616.3(LINS1):c.717C>A (p.Cys239Ter)
|
rs1596891223
|
|
NM_001160372.4(TRAPPC9):c.2890A>G (p.Lys964Glu)
|
rs1357591960
|
|
NM_001164277.2(SLC37A4):c.963_964del (p.Val322fs)
|
rs1592109970
|
|
NM_001164277.2(SLC37A4):c.985+1G>A
|
rs1943553565
|
|
NM_001370658.1(BTD):c.1568A>G (p.Asp523Gly)
|
rs1050035768
|
|
NM_001807.6(CEL):c.1776dup (p.Val593fs)
|
rs193922638
|
|
NM_006721.4(ADK):c.813dup (p.Asn272fs)
|
rs1589286482
|
|
NM_006755.2(TALDO1):c.793del (p.Gln265fs)
|
rs727502867
|
|
NM_017721.5(CC2D1A):c.748+1G>T
|
rs876657679
|
|
NM_017755.6(NSUN2):c.1020del (p.Gly341fs)
|
rs1579368865
|
|
NM_031229.4(RBCK1):c.461-2A>G
|
rs2016220601
|
|
NM_175914.5(HNF4A):c.50-4560G>A
|
rs1254732171
|
|