|
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.271G>A (p.Asp91Asn)
|
rs1800299
|
0.02215
|
|
NM_181503.3(EXOSC8):c.815G>C (p.Ser272Thr)
|
rs36027220
|
0.00400
|
|
NM_000035.4(ALDOB):c.448G>C (p.Ala150Pro)
|
rs1800546
|
0.00319
|
|
NM_001243177.4(ALDOA):c.1201G>A (p.Gly401Ser)
|
rs138824667
|
0.00256
|
|
NM_005609.4(PYGM):c.1537A>G (p.Ile513Val)
|
rs139570786
|
0.00232
|
|
NM_000642.3(AGL):c.2390A>G (p.Asn797Ser)
|
rs149210307
|
0.00212
|
|
NM_000158.4(GBE1):c.15G>A (p.Met5Ile)
|
rs62267114
|
0.00125
|
|
NM_004563.4(PCK2):c.1468+2T>C
|
rs148019349
|
0.00110
|
|
NM_001160372.4(TRAPPC9):c.3149G>A (p.Arg1050Gln)
|
rs111768745
|
0.00103
|
|
NM_001370658.1(BTD):c.68A>G (p.His23Arg)
|
rs146011150
|
0.00042
|
|
NM_001370658.1(BTD):c.451G>A (p.Ala151Thr)
|
rs13073139
|
0.00039
|
|
NM_003619.4(PRSS12):c.37G>A (p.Gly13Arg)
|
rs140334007
|
0.00039
|
|
NM_000290.4(PGAM2):c.707A>C (p.Glu236Ala)
|
rs140230479
|
0.00022
|
|
NM_002103.5(GYS1):c.1121A>G (p.Asn374Ser)
|
rs200672892
|
0.00011
|
|
NM_006516.4(SLC2A1):c.312C>G (p.Phe104Leu)
|
rs76672402
|
0.00010
|
|
NM_000642.3(AGL):c.3980G>A (p.Trp1327Ter)
|
rs267606640
|
0.00006
|
|
NM_003384.3(VRK1):c.1072C>T (p.Arg358Ter)
|
rs137853063
|
0.00006
|
|
NM_017755.6(NSUN2):c.2026G>A (p.Val676Ile)
|
rs773052587
|
0.00006
|
|
NM_000289.6(PFKM):c.59T>C (p.Val20Ala)
|
rs755992543
|
0.00004
|
|
NM_001135055.2:c.769_770insCTACCTCCTTATCTTCTG
|
rs781905246
|
0.00004
|
|
NM_000507.4(FBP1):c.541G>A (p.Gly181Arg)
|
rs1372801499
|
0.00003
|
|
NM_003805.5(CRADD):c.503G>A (p.Arg168Gln)
|
rs563879626
|
0.00003
|
|
NM_004830.4(MED23):c.2417T>C (p.Ile806Thr)
|
rs1416942996
|
0.00003
|
|
NM_000404.4(GLB1):c.841C>T (p.His281Tyr)
|
rs745386663
|
0.00002
|
|
NM_005908.4(MANBA):c.378+1G>A
|
rs142029636
|
0.00002
|
|
NM_000152.5(GAA):c.670C>T (p.Arg224Trp)
|
rs757700700
|
0.00001
|
|
NM_000203.5(IDUA):c.1728-1G>C
|
rs1249951282
|
0.00001
|
|
NM_003477.3(PDHX):c.479G>A (p.Arg160His)
|
rs747386411
|
0.00001
|
|
NM_006516.4(SLC2A1):c.1060G>A (p.Ala354Thr)
|
rs780529723
|
0.00001
|
|
NM_012203.2(GRHPR):c.295C>T (p.Arg99Ter)
|
rs119490108
|
0.00001
|
|
NM_000158.4(GBE1):c.415G>T (p.Gly139Ter)
|
rs1553690406
|
|
|
NM_000162.5(GCK):c.1085C>T (p.Thr362Ile)
|
rs2096271812
|
|
|
NM_000202.8(IDS):c.1417C>T (p.Pro473Ser)
|
rs2123994315
|
|
|
NM_000891.3(KCNJ2):c.431G>A (p.Gly144Asp)
|
rs199473377
|
|
|
NM_001040716.2(PC):c.1023-14C>G
|
rs111858832
|
|
|
NM_001040716.2(PC):c.1717G>A (p.Ala573Thr)
|
rs796052029
|
|
|
NM_002103.5(GYS1):c.101G>T (p.Trp34Leu)
|
rs1131691586
|
|
|
NM_002294.3(LAMP2):c.815T>G (p.Leu272Arg)
|
rs1569369217
|
|
|
NM_003477.3(PDHX):c.794C>T (p.Thr265Ile)
|
|
|
|
NM_006516.4(SLC2A1):c.2T>C (p.Met1Thr)
|
rs1553157935
|
|
|
NM_006755.2(TALDO1):c.409G>T (p.Asp137Tyr)
|
rs376434268
|
|
|
NM_053013.4(ENO3):c.240+13G>T
|
rs1555553596
|
|