NM_000372.5(TYR):c.1217C>T (p.Pro406Leu)
|
rs104894313
|
0.00375
|
NM_003060.4(SLC22A5):c.1463G>A (p.Arg488His)
|
rs28383481
|
0.00347
|
NM_022132.5(MCCC2):c.599T>A (p.Ile200Asn)
|
rs140806722
|
0.00262
|
NM_001017989.3(OPA3):c.184G>A (p.Gly62Ser)
|
rs140959406
|
0.00223
|
NM_001142800.2(EYS):c.6119T>A (p.Val2040Asp)
|
rs201580493
|
0.00166
|
NM_000018.4(ACADVL):c.1678+23C>T
|
rs147546456
|
0.00163
|
NM_000666.3(ACY1):c.1177C>T (p.Arg393Cys)
|
rs6804746
|
0.00159
|
NM_001258392.3(CLPB):c.1792C>T (p.Arg598Cys)
|
rs150343959
|
0.00133
|
NM_212552.3(BOLA3):c.258+9A>C
|
rs201380456
|
0.00133
|
NM_015506.3(MMACHC):c.332G>A (p.Arg111Gln)
|
rs200300254
|
0.00123
|
NM_001010898.4(SLC6A17):c.286+10A>G
|
rs187996451
|
0.00119
|
NM_002454.3(MTRR):c.869T>C (p.Ile290Thr)
|
rs144899305
|
0.00096
|
NM_000026.4(ADSL):c.895A>G (p.Met299Val)
|
rs34396910
|
0.00090
|
NM_206933.4(USH2A):c.6670G>T (p.Gly2224Cys)
|
rs149553844
|
0.00089
|
NM_000254.3(MTR):c.1862A>G (p.Asp621Gly)
|
rs61736440
|
0.00081
|
NM_000277.3(PAH):c.30C>G (p.Gly10=)
|
rs1801145
|
0.00069
|
NM_000018.4(ACADVL):c.1567G>A (p.Gly523Arg)
|
rs139425622
|
0.00066
|
NM_003060.4(SLC22A5):c.34G>A (p.Gly12Ser)
|
rs139203363
|
0.00066
|
NM_000026.4(ADSL):c.403-4G>A
|
rs373652667
|
0.00064
|
NM_001081.4(CUBN):c.4669C>T (p.Leu1557Phe)
|
rs140970422
|
0.00064
|
NM_014049.5(ACAD9):c.1022T>C (p.Leu341Ser)
|
rs141874052
|
0.00061
|
NM_020166.5(MCCC1):c.1942G>A (p.Gly648Ser)
|
rs149017703
|
0.00056
|
NM_001080442.3(SLC38A8):c.922A>G (p.Thr308Ala)
|
rs142821762
|
0.00051
|
NM_015662.3(IFT172):c.2770T>G (p.Ser924Ala)
|
rs142409945
|
0.00046
|
NM_000108.5(DLD):c.100A>G (p.Thr34Ala)
|
rs138002793
|
0.00045
|
NM_001142800.2(EYS):c.1852G>A (p.Gly618Ser)
|
rs142450703
|
0.00043
|
NM_206933.4(USH2A):c.11815G>A (p.Glu3939Lys)
|
rs146264950
|
0.00043
|
NM_001370658.1(BTD):c.68A>G (p.His23Arg)
|
rs146011150
|
0.00042
|
NM_014251.3(SLC25A13):c.2T>C (p.Met1Thr)
|
rs541276426
|
0.00041
|
NM_005327.7(HADH):c.349G>C (p.Val117Leu)
|
rs146732064
|
0.00035
|
NM_001003841.3(SLC6A19):c.539C>T (p.Thr180Met)
|
rs141487939
|
0.00032
|
NM_001258392.3(CLPB):c.441G>C (p.Met147Ile)
|
rs146895312
|
0.00032
|
NM_000016.6(ACADM):c.1091T>C (p.Ile364Thr)
|
rs150710061
|
0.00031
|
NM_001081.4(CUBN):c.7837A>C (p.Ile2613Leu)
|
rs144626884
|
0.00031
|
NM_014049.5(ACAD9):c.479A>C (p.Glu160Ala)
|
rs145391132
|
0.00031
|
NM_014384.3(ACAD8):c.466G>T (p.Ala156Ser)
|
rs201273972
|
0.00030
|
NM_000255.4(MMUT):c.878A>G (p.Gln293Arg)
|
rs138374956
|
0.00029
|
NM_000372.5(TYR):c.649C>T (p.Arg217Trp)
|
rs63159160
|
0.00029
|
NM_004279.3(PMPCB):c.28T>G (p.Leu10Val)
|
rs77305684
|
0.00027
|
NM_006623.4(PHGDH):c.1471C>T (p.Arg491Trp)
|
rs587731325
|
0.00026
|
NM_000481.4(AMT):c.635T>C (p.Val212Ala)
|
rs201141125
|
0.00024
|
NM_001278064.2(GRM1):c.1073G>A (p.Arg358Lys)
|
rs112817798
|
0.00024
|
NM_001698.3(AUH):c.791G>A (p.Gly264Glu)
|
rs376821113
|
0.00024
|
NM_003060.4(SLC22A5):c.1643G>A (p.Arg548Lys)
|
rs150775371
|
0.00023
|
NM_012463.4(ATP6V0A2):c.994G>A (p.Glu332Lys)
|
rs144949442
|
0.00023
|
NM_001010898.4(SLC6A17):c.1723G>A (p.Val575Met)
|
rs143189177
|
0.00022
|
NM_002497.4(NEK2):c.97-2A>G
|
rs201869074
|
0.00022
|
NM_001080.3(ALDH5A1):c.50C>T (p.Ser17Leu)
|
rs753168976
|
0.00021
|
NM_001352514.2(HLCS):c.1843G>C (p.Val615Leu)
|
rs376210604
|
0.00014
|
NM_000156.6(GAMT):c.575C>T (p.Thr192Met)
|
rs141066224
|
0.00013
|
NM_001875.5(CPS1):c.121G>T (p.Val41Phe)
|
rs148708735
|
0.00013
|
NM_206933.4(USH2A):c.4697A>G (p.Gln1566Arg)
|
rs376314751
|
0.00013
|
NM_014252.4(SLC25A15):c.706A>G (p.Arg236Gly)
|
rs142236568
|
0.00012
|
NM_020166.5(MCCC1):c.1561G>A (p.Ala521Thr)
|
rs149957640
|
0.00012
|
NM_000170.3(GLDC):c.2518A>G (p.Met840Val)
|
rs781693346
|
0.00011
|
NM_000274.4(OAT):c.478G>A (p.Val160Met)
|
rs148433929
|
0.00011
|
NM_018706.7(DHTKD1):c.2266A>T (p.Asn756Tyr)
|
rs199643928
|
0.00011
|
NM_003038.5(SLC1A4):c.1520C>A (p.Ser507Ter)
|
rs200617042
|
0.00010
|
NM_000161.3(GCH1):c.610G>A (p.Val204Ile)
|
rs200891969
|
0.00009
|
NM_001258392.3(CLPB):c.1803G>A (p.Val601=)
|
rs766600801
|
0.00009
|
NM_016373.4(WWOX):c.406A>G (p.Ile136Val)
|
rs193027041
|
0.00009
|
NM_194279.4(ISCA2):c.361G>T (p.Val121Leu)
|
rs201908228
|
0.00009
|
NM_000666.3(ACY1):c.437-19G>A
|
rs757575874
|
0.00008
|
NM_002860.4(ALDH18A1):c.868G>A (p.Gly290Arg)
|
rs368147360
|
0.00008
|
NM_206933.4(USH2A):c.10342G>A (p.Glu3448Lys)
|
rs368049814
|
0.00008
|
NM_003060.4(SLC22A5):c.1373T>C (p.Val458Ala)
|
rs753268767
|
0.00007
|
NM_004170.6(SLC1A1):c.768-4C>G
|
rs368368579
|
0.00007
|
NM_006623.4(PHGDH):c.910G>A (p.Val304Met)
|
rs149175408
|
0.00007
|
NM_206933.4(USH2A):c.3045C>G (p.His1015Gln)
|
rs541918040
|
0.00007
|
NM_000836.4(GRIN2D):c.3888G>C (p.Arg1296Ser)
|
rs375048004
|
0.00006
|
NM_001127222.2(CACNA1A):c.6077A>G (p.Glu2026Gly)
|
rs771768635
|
0.00006
|
NM_001142800.2(EYS):c.2953_2961del (p.Thr985_Gly987del)
|
rs756068592
|
0.00006
|
NM_001875.5(CPS1):c.3682C>T (p.Arg1228Trp)
|
rs367595060
|
0.00006
|
NM_001876.4(CPT1A):c.1436C>T (p.Pro479Leu)
|
rs80356779
|
0.00006
|
NM_004113.6(FGF12):c.88A>G (p.Thr30Ala)
|
rs142373936
|
0.00006
|
NM_005271.5(GLUD1):c.1652A>G (p.Asn551Ser)
|
rs373705613
|
0.00006
|
NM_012463.4(ATP6V0A2):c.1112G>A (p.Arg371His)
|
rs199698721
|
0.00006
|
NM_014049.5(ACAD9):c.91C>T (p.Arg31Cys)
|
rs368630371
|
0.00006
|
NM_015509.4(NECAP1):c.581A>G (p.Lys194Arg)
|
rs765855460
|
0.00006
|
NM_018706.7(DHTKD1):c.1594C>T (p.Arg532Trp)
|
rs781243504
|
0.00006
|
NM_018706.7(DHTKD1):c.71A>G (p.Tyr24Cys)
|
rs895237537
|
0.00006
|
NM_058179.4(PSAT1):c.793G>A (p.Ala265Thr)
|
rs764335664
|
0.00006
|
NM_006623.4(PHGDH):c.262G>A (p.Ala88Thr)
|
rs142988234
|
0.00005
|
NM_006623.4(PHGDH):c.916A>G (p.Met306Val)
|
rs587648058
|
0.00005
|
NM_000836.4(GRIN2D):c.2611T>C (p.Trp871Arg)
|
rs1229429201
|
0.00004
|
NM_001010898.4(SLC6A17):c.754-4G>A
|
rs773243821
|
0.00004
|
NM_001012720.2(RGR):c.34G>A (p.Gly12Arg)
|
rs751874712
|
0.00004
|
NM_001024845.3(SLC6A9):c.407C>T (p.Ser136Leu)
|
rs201065535
|
0.00004
|
NM_001081.4(CUBN):c.8701G>A (p.Val2901Ile)
|
rs201093611
|
0.00004
|
NM_001243279.3(ACSF3):c.1470G>C (p.Glu490Asp)
|
rs147538370
|
0.00004
|
NM_001698.3(AUH):c.374G>A (p.Arg125Gln)
|
rs137939308
|
0.00004
|
NM_005327.7(HADH):c.907G>A (p.Gly303Ser)
|
rs201772964
|
0.00004
|
NM_016373.4(WWOX):c.173-6T>G
|
rs200812468
|
0.00004
|
NM_018706.7(DHTKD1):c.446G>A (p.Arg149Gln)
|
rs773052090
|
0.00004
|
NM_177550.5(SLC13A5):c.1156+20C>T
|
rs368150158
|
0.00004
|
NM_177550.5(SLC13A5):c.391G>A (p.Val131Ile)
|
rs140389204
|
0.00004
|
NM_206933.4(USH2A):c.997T>C (p.Ser333Pro)
|
rs368986242
|
0.00004
|
NM_212552.3(BOLA3):c.317A>G (p.Lys106Arg)
|
rs376876176
|
0.00004
|
NM_000182.5(HADHA):c.1174G>A (p.Ala392Thr)
|
rs534553558
|
0.00003
|
NM_000182.5(HADHA):c.1453G>T (p.Ala485Ser)
|
rs958717402
|
0.00003
|
NM_000320.3(QDPR):c.118G>A (p.Val40Ile)
|
rs769586091
|
0.00003
|
NM_001010898.4(SLC6A17):c.1957G>A (p.Val653Met)
|
rs757150136
|
0.00003
|
NM_001080.3(ALDH5A1):c.1606T>C (p.Ter536Gln)
|
rs201484501
|
0.00003
|
NM_001142800.2(EYS):c.6562A>G (p.Ile2188Val)
|
rs184448644
|
0.00003
|
NM_001875.5(CPS1):c.2815C>T (p.Pro939Ser)
|
rs1047579926
|
0.00003
|
NM_001985.3(ETFB):c.274C>T (p.Pro92Ser)
|
rs758509148
|
0.00003
|
NM_002860.4(ALDH18A1):c.1540C>T (p.Arg514Trp)
|
rs770442555
|
0.00003
|
NM_005334.3(HCFC1):c.4566G>A (p.Ser1522=)
|
rs371874117
|
0.00003
|
NM_005518.4(HMGCS2):c.791G>A (p.Arg264Gln)
|
rs372095379
|
0.00003
|
NM_006623.4(PHGDH):c.802C>T (p.Arg268Trp)
|
rs142622658
|
0.00003
|
NM_006859.4(LIAS):c.877A>G (p.Met293Val)
|
rs943564525
|
0.00003
|
NM_014049.5(ACAD9):c.662A>G (p.Asn221Ser)
|
rs761452056
|
0.00003
|
NM_016373.4(WWOX):c.995A>C (p.His332Pro)
|
rs775584864
|
0.00003
|
NM_032861.4(SERAC1):c.1828+3A>G
|
rs773193644
|
0.00003
|
NM_177550.5(SLC13A5):c.305G>A (p.Arg102His)
|
rs764688100
|
0.00003
|
NM_000108.5(DLD):c.1439T>C (p.Ile480Thr)
|
rs140260331
|
0.00002
|
NM_000137.4(FAH):c.398A>T (p.His133Leu)
|
rs775152764
|
0.00002
|
NM_000170.3(GLDC):c.2809C>T (p.Arg937Cys)
|
rs766928717
|
0.00002
|
NM_000282.4(PCCA):c.809T>C (p.Ile270Thr)
|
rs773749632
|
0.00002
|
NM_000360.4(TH):c.216C>T (p.Ala72=)
|
rs773288225
|
0.00002
|
NM_000666.3(ACY1):c.1132C>T (p.Arg378Trp)
|
rs148346337
|
0.00002
|
NM_000836.4(GRIN2D):c.3076G>A (p.Gly1026Ser)
|
rs900615101
|
0.00002
|
NM_001024845.3(SLC6A9):c.962G>A (p.Arg321Gln)
|
rs201870833
|
0.00002
|
NM_001127222.2(CACNA1A):c.6550A>G (p.Thr2184Ala)
|
rs1028538547
|
0.00002
|
NM_001201543.2(FAM161A):c.1946_1947del (p.Gly649fs)
|
rs773858764
|
0.00002
|
NM_004279.3(PMPCB):c.-3G>T
|
rs771831705
|
0.00002
|
NM_004577.4(PSPH):c.94G>A (p.Asp32Asn)
|
rs104894035
|
0.00002
|
NM_020166.5(MCCC1):c.898A>G (p.Lys300Glu)
|
rs753650692
|
0.00002
|
NM_030943.4(AMN):c.1324G>A (p.Val442Ile)
|
rs760175392
|
0.00002
|
NM_177550.5(SLC13A5):c.434C>T (p.Thr145Met)
|
rs1202091819
|
0.00002
|
NM_206933.4(USH2A):c.15520-1G>A
|
rs767265734
|
0.00002
|
NM_206933.4(USH2A):c.2653C>T (p.His885Tyr)
|
rs746071929
|
0.00002
|
NM_000018.4(ACADVL):c.342+18G>A
|
rs372594520
|
0.00001
|
NM_000026.4(ADSL):c.439A>G (p.Lys147Glu)
|
rs746180694
|
0.00001
|
NM_000026.4(ADSL):c.587G>A (p.Arg196Gln)
|
rs753245184
|
0.00001
|
NM_000126.4(ETFA):c.-40G>A
|
rs1057521597
|
0.00001
|
NM_000126.4(ETFA):c.173C>G (p.Thr58Ser)
|
rs1166705959
|
0.00001
|
NM_000137.4(FAH):c.692T>C (p.Met231Thr)
|
rs772824887
|
0.00001
|
NM_000156.6(GAMT):c.25A>G (p.Ile9Val)
|
rs1555777381
|
0.00001
|
NM_000156.6(GAMT):c.438A>G (p.Thr146=)
|
rs80338733
|
0.00001
|
NM_000170.3(GLDC):c.1078G>C (p.Val360Leu)
|
rs373482451
|
0.00001
|
NM_000255.4(MMUT):c.1091A>C (p.Tyr364Ser)
|
rs563776413
|
0.00001
|
NM_000255.4(MMUT):c.235A>G (p.Met79Val)
|
rs751177187
|
0.00001
|
NM_000532.5(PCCB):c.1456T>C (p.Tyr486His)
|
rs143190442
|
0.00001
|
NM_000836.4(GRIN2D):c.1085+13G>A
|
rs956727278
|
0.00001
|
NM_000836.4(GRIN2D):c.838G>A (p.Ala280Thr)
|
rs759019629
|
0.00001
|
NM_001001563.5(TIMM50):c.854-8G>C
|
rs1166132682
|
0.00001
|
NM_001010867.4(IBA57):c.266C>T (p.Pro89Leu)
|
rs1191467500
|
0.00001
|
NM_001010867.4(IBA57):c.827G>A (p.Arg276His)
|
rs1245306816
|
0.00001
|
NM_001010898.4(SLC6A17):c.29G>A (p.Arg10His)
|
rs146348475
|
0.00001
|
NM_001080.3(ALDH5A1):c.137G>A (p.Cys46Tyr)
|
rs1397377730
|
0.00001
|
NM_001080.3(ALDH5A1):c.374G>A (p.Arg125Gln)
|
rs753604213
|
0.00001
|
NM_001081.4(CUBN):c.265A>C (p.Lys89Gln)
|
rs755860454
|
0.00001
|
NM_001243279.3(ACSF3):c.1096G>A (p.Gly366Arg)
|
rs142288136
|
0.00001
|
NM_001243279.3(ACSF3):c.1444T>C (p.Tyr482His)
|
rs776369896
|
0.00001
|
NM_001258392.3(CLPB):c.1840C>G (p.Pro614Ala)
|
rs1331493457
|
0.00001
|
NM_001258392.3(CLPB):c.259A>T (p.Thr87Ser)
|
rs960976552
|
0.00001
|
NM_001367823.1(ARHGEF18):c.2089T>G (p.Ser697Ala)
|
rs1250391682
|
0.00001
|
NM_001875.5(CPS1):c.3129C>G (p.Ile1043Met)
|
rs1294236456
|
0.00001
|
NM_001875.5(CPS1):c.3662A>G (p.Glu1221Gly)
|
rs1276176761
|
0.00001
|
NM_001985.3(ETFB):c.58-87A>C
|
rs1986023015
|
0.00001
|
NM_002225.5(IVD):c.1009C>T (p.Arg337Trp)
|
rs776608445
|
0.00001
|
NM_002860.4(ALDH18A1):c.1448G>A (p.Arg483His)
|
rs756168752
|
0.00001
|
NM_003042.4(SLC6A1):c.1526C>T (p.Ala509Val)
|
rs769577441
|
0.00001
|
NM_003748.4(ALDH4A1):c.874A>C (p.Lys292Gln)
|
rs746880995
|
0.00001
|
NM_004279.3(PMPCB):c.1087T>C (p.Trp363Arg)
|
rs752266462
|
0.00001
|
NM_004279.3(PMPCB):c.470T>G (p.Leu157Arg)
|
rs777654434
|
0.00001
|
NM_004408.4(DNM1):c.2076+4C>T
|
rs374379668
|
0.00001
|
NM_004408.4(DNM1):c.386-8C>T
|
rs764950748
|
0.00001
|
NM_004937.3(CTNS):c.682C>T (p.Arg228Cys)
|
rs764538705
|
0.00001
|
NM_005881.4(BCKDK):c.305T>C (p.Ile102Thr)
|
rs556255123
|
0.00001
|
NM_005881.4(BCKDK):c.847G>A (p.Ala283Thr)
|
rs760851100
|
0.00001
|
NM_012463.4(ATP6V0A2):c.2338C>T (p.Arg780Cys)
|
rs768609186
|
0.00001
|
NM_014049.5(ACAD9):c.1312C>G (p.Leu438Val)
|
rs749932833
|
0.00001
|
NM_014049.5(ACAD9):c.220G>A (p.Val74Met)
|
rs779258809
|
0.00001
|
NM_014384.3(ACAD8):c.988C>T (p.Arg330Trp)
|
rs121908420
|
0.00001
|
NM_015509.4(NECAP1):c.487A>G (p.Ile163Val)
|
rs1477942819
|
0.00001
|
NM_015702.3(MMADHC):c.406A>G (p.Ser136Gly)
|
rs1345924349
|
0.00001
|
NM_016373.4(WWOX):c.228T>C (p.Val76=)
|
rs370579498
|
0.00001
|
NM_016373.4(WWOX):c.325G>A (p.Gly109Ser)
|
rs770001837
|
0.00001
|
NM_016373.4(WWOX):c.605+5G>A
|
rs1039151413
|
0.00001
|
NM_016373.4(WWOX):c.989A>G (p.Asn330Ser)
|
rs746833923
|
0.00001
|
NM_018368.4(LMBRD1):c.1214C>G (p.Thr405Ser)
|
rs561265847
|
0.00001
|
NM_018368.4(LMBRD1):c.907C>A (p.Pro303Thr)
|
rs752377027
|
0.00001
|
NM_018706.7(DHTKD1):c.2747A>G (p.Lys916Arg)
|
rs1016086446
|
0.00001
|
NM_020166.5(MCCC1):c.635G>C (p.Gly212Ala)
|
rs749287771
|
0.00001
|
NM_024818.6(UBA5):c.169A>G (p.Met57Val)
|
rs532178791
|
0.00001
|
NM_025136.4(OPA3):c.367C>T (p.Arg123Trp)
|
rs1022155897
|
0.00001
|
NM_032861.4(SERAC1):c.935C>T (p.Pro312Leu)
|
rs1455975616
|
0.00001
|
NM_058179.4(PSAT1):c.677C>T (p.Ser226Leu)
|
rs1479566156
|
0.00001
|
NM_145199.3(LIPT1):c.131A>G (p.Asn44Ser)
|
rs1468529365
|
0.00001
|
NM_172250.3(MMAA):c.1157G>A (p.Arg386Gln)
|
rs191643294
|
0.00001
|
NM_206933.4(USH2A):c.13684A>G (p.Ile4562Val)
|
rs1427845684
|
0.00001
|
NM_206933.4(USH2A):c.15233C>G (p.Pro5078Arg)
|
rs527236122
|
0.00001
|
NM_206933.4(USH2A):c.5953G>A (p.Glu1985Lys)
|
rs150143291
|
0.00001
|
NM_206933.4(USH2A):c.9259G>A (p.Val3087Ile)
|
rs200382994
|
0.00001
|
NM_206933.4(USH2A):c.9906C>T (p.Asn3302=)
|
rs757439664
|
0.00001
|
NM_212552.3(BOLA3):c.76T>C (p.Phe26Leu)
|
rs965127002
|
0.00001
|
NM_000017.4(ACADS):c.505A>C (p.Thr169Pro)
|
rs777002501
|
|
NM_000026.4(ADSL):c.502G>A (p.Val168Ile)
|
rs1385675650
|
|
NM_000026.4(ADSL):c.617C>G (p.Ala206Gly)
|
rs746848060
|
|
NM_000045.4(ARG1):c.75A>G (p.Glu25=)
|
rs755973004
|
|
NM_000045.4(ARG1):c.862G>A (p.Glu288Lys)
|
rs932875709
|
|
NM_000048.4(ASL):c.207G>A (p.Lys69=)
|
rs886043007
|
|
NM_000108.5(DLD):c.13A>G (p.Ser5Gly)
|
|
|
NM_000108.5(DLD):c.1471T>C (p.Ser491Pro)
|
rs2032348536
|
|
NM_000108.5(DLD):c.217A>C (p.Asn73His)
|
rs796051949
|
|
NM_000108.5(DLD):c.656T>C (p.Ile219Thr)
|
rs2032006962
|
|
NM_000116.5(TAFAZZIN):c.212C>T (p.Ser71Phe)
|
rs2068330347
|
|
NM_000116.5(TAFAZZIN):c.688C>T (p.Arg230Cys)
|
|
|
NM_000156.6(GAMT):c.182-3_182dup
|
rs2082624287
|
|
NM_000156.6(GAMT):c.1A>G (p.Met1Val)
|
rs796052527
|
|
NM_000159.4(GCDH):c.566G>C (p.Ser189Thr)
|
rs764774411
|
|
NM_000161.3(GCH1):c.274C>T (p.Leu92Phe)
|
rs763294577
|
|
NM_000170.3(GLDC):c.1871C>G (p.Ala624Gly)
|
rs779980470
|
|
NM_000170.3(GLDC):c.2293C>T (p.Pro765Ser)
|
rs386833551
|
|
NM_000170.3(GLDC):c.83C>T (p.Pro28Leu)
|
rs1819724719
|
|
NM_000182.5(HADHA):c.2063G>A (p.Cys688Tyr)
|
rs1669504364
|
|
NM_000191.3(HMGCL):c.437G>A (p.Ser146Asn)
|
rs1638574066
|
|
NM_000191.3(HMGCL):c.8C>T (p.Ala3Val)
|
rs1638800964
|
|
NM_000240.4(MAOA):c.411+12G>A
|
rs2033703535
|
|
NM_000255.4(MMUT):c.1435A>G (p.Ile479Val)
|
rs867154364
|
|
NM_000327.4(ROM1):c.167C>T (p.Ser56Phe)
|
rs199847029
|
|
NM_000353.3(TAT):c.623A>T (p.Lys208Met)
|
rs2044208144
|
|
NM_000360.4(TH):c.200C>T (p.Pro67Leu)
|
rs752445432
|
|
NM_000360.4(TH):c.284C>T (p.Ala95Val)
|
rs769126179
|
|
NM_000360.4(TH):c.730G>C (p.Ala244Pro)
|
rs759968927
|
|
NM_000360.4(TH):c.81G>T (p.Glu27Asp)
|
rs139742336
|
|
NM_000532.5(PCCB):c.35C>A (p.Ala12Glu)
|
rs1257439275
|
|
NM_000666.3(ACY1):c.1201G>T (p.Val401Leu)
|
rs1701179354
|
|
NM_000666.3(ACY1):c.19G>C (p.Glu7Gln)
|
rs953420417
|
|
NM_000666.3(ACY1):c.921+21A>T
|
rs1701122828
|
|
NM_000812.4(GABRB1):c.629A>G (p.Gln210Arg)
|
rs1728466964
|
|
NM_000836.4(GRIN2D):c.2356A>G (p.Thr786Ala)
|
rs1971296612
|
|
NM_000836.4(GRIN2D):c.3929C>T (p.Ala1310Val)
|
rs753854352
|
|
NM_001001563.5(TIMM50):c.44T>G (p.Leu15Arg)
|
|
|
NM_001001563.5(TIMM50):c.620G>T (p.Ser207Ile)
|
rs2079507347
|
|
NM_001010881.2(C1orf167):c.3824G>A (p.Ser1275Asn)
|
rs371188005
|
|
NM_001010898.4(SLC6A17):c.852G>A (p.Met284Ile)
|
rs1188854712
|
|
NM_001024845.3(SLC6A9):c.31-6241del
|
rs1460786911
|
|
NM_001081.4(CUBN):c.5305G>C (p.Val1769Leu)
|
rs74116778
|
|
NM_001081.4(CUBN):c.7406C>T (p.Pro2469Leu)
|
rs202229367
|
|
NM_001127222.2(CACNA1A):c.124C>T (p.Pro42Ser)
|
rs2145192584
|
|
NM_001127222.2(CACNA1A):c.1898A>G (p.Gln633Arg)
|
rs2057946815
|
|
NM_001127222.2(CACNA1A):c.2621C>T (p.Ser874Leu)
|
rs1057522802
|
|
NM_001127222.2(CACNA1A):c.2674A>G (p.Ser892Gly)
|
rs2057731579
|
|
NM_001127222.2(CACNA1A):c.2968GAGGGC[4] (p.990EG[4])
|
rs764399373
|
|
NM_001127222.2(CACNA1A):c.5940+18C>G
|
rs1057522421
|
|
NM_001127222.2(CACNA1A):c.6754G>T (p.Gly2252Cys)
|
rs1433873178
|
|
NM_001127222.2(CACNA1A):c.6771G>A (p.Ala2257=)
|
rs753884600
|
|
NM_001127222.2(CACNA1A):c.7136C>T (p.Ser2379Phe)
|
rs2054617641
|
|
NM_001142800.2(EYS):c.2525C>A (p.Thr842Asn)
|
rs1768034633
|
|
NM_001142800.2(EYS):c.5401G>A (p.Ala1801Thr)
|
rs751705317
|
|
NM_001201543.2(FAM161A):c.2032G>T (p.Glu678Ter)
|
|
|
NM_001243279.3(ACSF3):c.149C>T (p.Ala50Val)
|
rs1187720594
|
|
NM_001244926.2(PRPF4):c.654+4A>T
|
rs556015541
|
|
NM_001258392.3(CLPB):c.1610A>G (p.Tyr537Cys)
|
rs150857620
|
|
NM_001258392.3(CLPB):c.1666T>A (p.Phe556Ile)
|
rs1949509947
|
|
NM_001258392.3(CLPB):c.1870G>C (p.Glu624Gln)
|
rs1949489503
|
|
NM_001258392.3(CLPB):c.908A>G (p.Glu303Gly)
|
rs144712077
|
|
NM_001271.4(CHD2):c.1937G>A (p.Gly646Glu)
|
rs1567141162
|
|
NM_001271.4(CHD2):c.3284C>G (p.Ala1095Gly)
|
rs2054031451
|
|
NM_001271.4(CHD2):c.3423G>A (p.Lys1141=)
|
rs2054119126
|
|
NM_001271.4(CHD2):c.3920G>A (p.Gly1307Glu)
|
rs2054212404
|
|
NM_001271.4(CHD2):c.4637G>A (p.Arg1546Gln)
|
rs1430565994
|
|
NM_001271.4(CHD2):c.4892A>C (p.His1631Pro)
|
rs2054438338
|
|
NM_001271.4(CHD2):c.5443C>A (p.Gln1815Lys)
|
|
|
NM_001297.5(CNGB1):c.2543G>T (p.Gly848Val)
|
rs758072259
|
|
NM_001330260.2(SCN8A):c.1452C>T (p.Ser484=)
|
rs1941787074
|
|
NM_001330260.2(SCN8A):c.1676A>G (p.His559Arg)
|
|
|
NM_001330260.2(SCN8A):c.3336T>A (p.Asp1112Glu)
|
rs1942887434
|
|
NM_001330260.2(SCN8A):c.4082C>G (p.Ser1361Cys)
|
|
|
NM_001330260.2(SCN8A):c.4235T>C (p.Phe1412Ser)
|
rs1555228665
|
|
NM_001330260.2(SCN8A):c.5307C>A (p.Phe1769Leu)
|
|
|
NM_001482.3(GATM):c.1022C>T (p.Pro341Leu)
|
rs1889422661
|
|
NM_001510.4(GRID2):c.-62C>T
|
|
|
NM_001510.4(GRID2):c.121G>T (p.Asp41Tyr)
|
rs1728640535
|
|
NM_001510.4(GRID2):c.1658A>G (p.Glu553Gly)
|
rs752073311
|
|
NM_001605.3(AARS1):c.232G>T (p.Ala78Ser)
|
|
|
NM_001605.3(AARS1):c.74A>G (p.Tyr25Cys)
|
rs1300927114
|
|
NM_001609.4(ACADSB):c.640G>T (p.Ala214Ser)
|
rs145529589
|
|
NM_001875.5(CPS1):c.1523T>C (p.Met508Thr)
|
|
|
NM_001875.5(CPS1):c.3500C>A (p.Thr1167Lys)
|
|
|
NM_001875.5(CPS1):c.3949C>T (p.Arg1317Trp)
|
|
|
NM_001875.5(CPS1):c.74C>A (p.Ala25Glu)
|
|
|
NM_001876.4(CPT1A):c.693+1G>A
|
rs1055176086
|
|
NM_001985.3(ETFB):c.58-27C>T
|
|
|
NM_002454.3(MTRR):c.1642G>A (p.Gly548Ser)
|
rs1738413262
|
|
NM_002454.3(MTRR):c.485A>G (p.Glu162Gly)
|
rs1734869328
|
|
NM_002860.4(ALDH18A1):c.1078+6T>C
|
rs919353563
|
|
NM_002860.4(ALDH18A1):c.1376G>C (p.Arg459Pro)
|
rs771386671
|
|
NM_002860.4(ALDH18A1):c.1691T>C (p.Val564Ala)
|
|
|
NM_003060.4(SLC22A5):c.394-151C>G
|
|
|
NM_003748.4(ALDH4A1):c.416G>T (p.Arg139Leu)
|
rs368241243
|
|
NM_003982.4(SLC7A7):c.187C>T (p.Leu63Phe)
|
rs2039348270
|
|
NM_004171.4(SLC1A2):c.555T>A (p.Phe185Leu)
|
rs751782700
|
|
NM_004171.4(SLC1A2):c.607G>A (p.Glu203Lys)
|
rs1400780690
|
|
NM_004172.5(SLC1A3):c.1436G>A (p.Arg479Gln)
|
|
|
NM_004172.5(SLC1A3):c.209C>G (p.Pro70Arg)
|
rs767138995
|
|
NM_004279.3(PMPCB):c.150A>C (p.Gln50His)
|
rs762743960
|
|
NM_004408.4(DNM1):c.395T>G (p.Leu132Arg)
|
|
|
NM_004974.4(KCNA2):c.1226T>A (p.Ile409Asn)
|
|
|
NM_004974.4(KCNA2):c.362A>G (p.Glu121Gly)
|
|
|
NM_004975.4(KCNB1):c.1205T>C (p.Val402Ala)
|
rs1984245487
|
|
NM_004975.4(KCNB1):c.1343T>C (p.Met448Thr)
|
rs1984239884
|
|
NM_004975.4(KCNB1):c.568-12T>G
|
rs1984280025
|
|
NM_005271.5(GLUD1):c.839T>C (p.Ile280Thr)
|
rs1845968579
|
|
NM_005334.3(HCFC1):c.1697C>T (p.Thr566Met)
|
rs1557115869
|
|
NM_005334.3(HCFC1):c.3674T>C (p.Ile1225Thr)
|
rs2065355018
|
|
NM_005334.3(HCFC1):c.4291C>T (p.His1431Tyr)
|
rs2065343736
|
|
NM_005334.3(HCFC1):c.5053G>A (p.Val1685Met)
|
rs2065317868
|
|
NM_005334.3(HCFC1):c.5698A>G (p.Ser1900Gly)
|
rs2065303644
|
|
NM_005589.4(ALDH6A1):c.1307A>G (p.Gln436Arg)
|
rs1037162967
|
|
NM_005629.4(SLC6A8):c.340C>A (p.Gln114Lys)
|
rs1569539246
|
|
NM_005629.4(SLC6A8):c.706A>T (p.Thr236Ser)
|
rs1328810626
|
|
NM_005881.4(BCKDK):c.846-3T>A
|
rs118042732
|
|
NM_005957.5(MTHFR):c.1621G>T (p.Val541Phe)
|
rs1644131560
|
|
NM_006343.3(MERTK):c.2435A>C (p.Tyr812Ser)
|
rs141361084
|
|
NM_006343.3(MERTK):c.597T>A (p.Phe199Leu)
|
rs1573591956
|
|
NM_006721.4(ADK):c.741T>A (p.Phe247Leu)
|
rs786205458
|
|
NM_006859.4(LIAS):c.152G>A (p.Gly51Asp)
|
rs1191295540
|
|
NM_006859.4(LIAS):c.76A>G (p.Arg26Gly)
|
rs773069554
|
|
NM_006907.4(PYCR1):c.-378G>C
|
|
|
NM_006907.4(PYCR1):c.346A>G (p.Arg116Gly)
|
rs2041142934
|
|
NM_013247.5(HTRA2):c.146G>C (p.Arg49Pro)
|
rs1675478353
|
|
NM_014049.5(ACAD9):c.976G>T (p.Ala326Ser)
|
rs115532916
|
|
NM_014251.3(SLC25A13):c.1452+5C>G
|
|
|
NM_014252.4(SLC25A15):c.731G>T (p.Gly244Val)
|
rs747658091
|
|
NM_014362.4(HIBCH):c.410C>T (p.Ala137Val)
|
rs1114167288
|
|
NM_014362.4(HIBCH):c.529G>C (p.Asp177His)
|
rs1315908015
|
|
NM_014362.4(HIBCH):c.763C>G (p.Arg255Gly)
|
rs1248460683
|
|
NM_014384.3(ACAD8):c.130G>A (p.Glu44Lys)
|
|
|
NM_014384.3(ACAD8):c.763G>A (p.Val255Met)
|
rs899220061
|
|
NM_015506.3(MMACHC):c.358G>T (p.Ala120Ser)
|
|
|
NM_015506.3(MMACHC):c.649G>A (p.Glu217Lys)
|
rs483352740
|
|
NM_015506.3(MMACHC):c.701del (p.Leu234fs)
|
rs767339897
|
|
NM_015506.3(MMACHC):c.720dup (p.Glu241fs)
|
|
|
NM_015506.3(MMACHC):c.728del (p.Pro243fs)
|
rs1409915649
|
|
NM_015506.3(MMACHC):c.766_771del (p.Ala256_Pro257del)
|
rs796064513
|
|
NM_015506.3(MMACHC):c.771dup (p.Lys258fs)
|
rs763886783
|
|
NM_015506.3(MMACHC):c.799dup (p.Arg267fs)
|
rs1553163005
|
|
NM_016011.5(MECR):c.161C>T (p.Pro54Leu)
|
rs1683215661
|
|
NM_016373.4(WWOX):c.*15G>T
|
rs533890923
|
|
NM_018255.4(ELP2):c.1321C>G (p.Leu441Val)
|
rs2090578313
|
|
NM_018368.4(LMBRD1):c.323T>C (p.Ile108Thr)
|
|
|
NM_018706.7(DHTKD1):c.1382C>A (p.Thr461Lys)
|
rs201559023
|
|
NM_018706.7(DHTKD1):c.1382C>G (p.Thr461Arg)
|
rs201559023
|
|
NM_020166.5(MCCC1):c.130_131delinsTT (p.Ala44Phe)
|
rs1553868919
|
|
NM_020166.5(MCCC1):c.1782C>G (p.Asp594Glu)
|
|
|
NM_020166.5(MCCC1):c.310C>A (p.Gln104Lys)
|
rs1177891822
|
|
NM_020166.5(MCCC1):c.386G>A (p.Cys129Tyr)
|
|
|
NM_021072.4(HCN1):c.1646G>A (p.Arg549His)
|
|
|
NM_021072.4(HCN1):c.1948A>C (p.Thr650Pro)
|
rs776850213
|
|
NM_021072.4(HCN1):c.282G>A (p.Met94Ile)
|
rs748665278
|
|
NM_021072.4(HCN1):c.74C>A (p.Ala25Glu)
|
rs1469192494
|
|
NM_022132.5(MCCC2):c.1493C>T (p.Ser498Phe)
|
|
|
NM_022132.5(MCCC2):c.1501G>A (p.Asp501Asn)
|
rs1391085331
|
|
NM_022132.5(MCCC2):c.955G>A (p.Gly319Arg)
|
rs1443551700
|
|
NM_022367.4(SEMA4A):c.807C>A (p.Cys269Ter)
|
|
|
NM_032861.4(SERAC1):c.21C>G (p.Cys7Trp)
|
rs139301835
|
|
NM_144639.3(UROC1):c.640G>A (p.Gly214Ser)
|
rs751617501
|
|
NM_153006.3(NAGS):c.872T>A (p.Ile291Asn)
|
|
|
NM_177550.5(SLC13A5):c.1654T>A (p.Phe552Ile)
|
rs1453393447
|
|
NM_177550.5(SLC13A5):c.312C>A (p.Asn104Lys)
|
rs750520927
|
|
NM_177550.5(SLC13A5):c.40T>C (p.Phe14Leu)
|
rs1974091514
|
|
NM_206933.4(USH2A):c.1246G>A (p.Ala416Thr)
|
rs187897763
|
|
NM_206933.4(USH2A):c.15380C>T (p.Pro5127Leu)
|
rs201513512
|
|
NM_206933.4(USH2A):c.2410C>T (p.Pro804Ser)
|
rs2036063280
|
|
NM_212552.3(BOLA3):c.131T>G (p.Phe44Cys)
|
rs1692522564
|
|