NM_022132.5(MCCC2):c.1322T>C (p.Ile441Thr)
|
rs139852818
|
0.00137
|
NM_001258392.3(CLPB):c.1792C>T (p.Arg598Cys)
|
rs150343959
|
0.00133
|
NM_052845.4(MMAB):c.394T>C (p.Cys132Arg)
|
rs147457956
|
0.00085
|
NM_000282.4(PCCA):c.1065+5C>T
|
rs201597816
|
0.00083
|
NM_015506.3(MMACHC):c.316G>A (p.Glu106Lys)
|
rs201617713
|
0.00081
|
NM_000532.5(PCCB):c.911C>T (p.Thr304Ile)
|
rs147538201
|
0.00076
|
NM_015506.3(MMACHC):c.181C>T (p.Arg61Trp)
|
rs200483477
|
0.00072
|
NM_015702.3(MMADHC):c.455C>G (p.Thr152Arg)
|
rs146795035
|
0.00067
|
NM_020166.5(MCCC1):c.1731+6C>A
|
rs369754994
|
0.00061
|
NM_015702.3(MMADHC):c.414A>C (p.Glu138Asp)
|
rs113390214
|
0.00055
|
NM_018368.4(LMBRD1):c.1199T>C (p.Ile400Thr)
|
rs147447600
|
0.00055
|
NM_001243279.3(ACSF3):c.1A>G (p.Met1Val)
|
rs370382601
|
0.00053
|
NM_001609.4(ACADSB):c.67T>G (p.Leu23Val)
|
rs149562178
|
0.00053
|
NM_001258392.3(CLPB):c.1958T>C (p.Ile653Thr)
|
rs144777839
|
0.00051
|
NM_018368.4(LMBRD1):c.1130T>C (p.Phe377Ser)
|
rs73477459
|
0.00050
|
NM_001258392.3(CLPB):c.989C>T (p.Ala330Val)
|
rs144942416
|
0.00045
|
NM_032861.4(SERAC1):c.1404-3C>G
|
rs367596327
|
0.00045
|
NM_022132.5(MCCC2):c.328G>A (p.Asp110Asn)
|
rs145438308
|
0.00043
|
NM_001370658.1(BTD):c.68A>G (p.His23Arg)
|
rs146011150
|
0.00042
|
NM_001609.4(ACADSB):c.1102T>C (p.Ser368Pro)
|
rs774205809
|
0.00042
|
NM_001370658.1(BTD):c.451G>A (p.Ala151Thr)
|
rs13073139
|
0.00039
|
NM_001698.3(AUH):c.730G>A (p.Asp244Asn)
|
rs202182817
|
0.00039
|
NM_015506.3(MMACHC):c.67G>T (p.Val23Phe)
|
rs201898615
|
0.00038
|
NM_032861.4(SERAC1):c.1259T>C (p.Ile420Thr)
|
rs114741005
|
0.00036
|
NM_032861.4(SERAC1):c.1660T>G (p.Leu554Val)
|
rs149034301
|
0.00036
|
NM_005050.4(ABCD4):c.406C>T (p.Arg136Trp)
|
rs145141432
|
0.00035
|
NM_005050.4(ABCD4):c.752G>A (p.Arg251His)
|
rs139315421
|
0.00034
|
NM_032861.4(SERAC1):c.91A>G (p.Arg31Gly)
|
rs146896149
|
0.00034
|
NM_020166.5(MCCC1):c.1705A>T (p.Asn569Tyr)
|
rs148332041
|
0.00033
|
NM_001258392.3(CLPB):c.441G>C (p.Met147Ile)
|
rs146895312
|
0.00032
|
NM_000019.4(ACAT1):c.1217A>G (p.Glu406Gly)
|
rs147872303
|
0.00030
|
NM_001258392.3(CLPB):c.646+6T>C
|
rs374982363
|
0.00029
|
NM_005050.4(ABCD4):c.1589A>T (p.Gln530Leu)
|
rs142696207
|
0.00029
|
NM_015702.3(MMADHC):c.557T>C (p.Met186Thr)
|
rs61755260
|
0.00029
|
NM_172250.3(MMAA):c.1177G>A (p.Glu393Lys)
|
rs144313458
|
0.00027
|
NM_000532.5(PCCB):c.82C>G (p.Leu28Val)
|
rs141137691
|
0.00026
|
NM_001258392.3(CLPB):c.889C>T (p.Arg297Trp)
|
rs148534573
|
0.00026
|
NM_145261.4(DNAJC19):c.331G>C (p.Glu111Gln)
|
rs370042988
|
0.00026
|
NM_001698.3(AUH):c.791G>A (p.Gly264Glu)
|
rs376821113
|
0.00024
|
NM_032861.4(SERAC1):c.1688C>G (p.Ser563Cys)
|
rs146410859
|
0.00024
|
NM_000282.4(PCCA):c.965C>T (p.Ala322Val)
|
rs143527709
|
0.00022
|
NM_001243279.3(ACSF3):c.728C>T (p.Pro243Leu)
|
rs140986055
|
0.00022
|
NM_001370658.1(BTD):c.1145A>G (p.Asn382Ser)
|
rs201023772
|
0.00022
|
NM_001698.3(AUH):c.464G>C (p.Gly155Ala)
|
rs377491933
|
0.00022
|
NM_000019.4(ACAT1):c.816G>T (p.Gln272His)
|
rs139120939
|
0.00021
|
NM_000282.4(PCCA):c.2101G>C (p.Ala701Pro)
|
rs143096615
|
0.00021
|
NM_002225.5(IVD):c.408G>C (p.Gln136His)
|
rs569537063
|
0.00021
|
NM_001243279.3(ACSF3):c.1411C>T (p.Arg471Trp)
|
rs138680796
|
0.00019
|
NM_001243279.3(ACSF3):c.497C>T (p.Pro166Leu)
|
rs781425127
|
0.00019
|
NM_001243279.3(ACSF3):c.721G>A (p.Val241Met)
|
rs145141190
|
0.00019
|
NM_005050.4(ABCD4):c.1325G>A (p.Arg442Gln)
|
rs199986349
|
0.00019
|
NM_005334.3(HCFC1):c.905-3C>T
|
rs200367055
|
0.00019
|
NM_015506.3(MMACHC):c.472T>C (p.Phe158Leu)
|
rs201312386
|
0.00019
|
NM_002225.5(IVD):c.38C>T (p.Ala13Val)
|
rs189587579
|
0.00018
|
NM_000282.4(PCCA):c.382A>G (p.Met128Val)
|
rs144201462
|
0.00017
|
NM_001370658.1(BTD):c.1310T>C (p.Val437Ala)
|
rs149690919
|
0.00017
|
NM_005334.3(HCFC1):c.4417A>G (p.Thr1473Ala)
|
rs201714172
|
0.00017
|
NM_018368.4(LMBRD1):c.430A>G (p.Thr144Ala)
|
rs12214456
|
0.00017
|
NM_001243279.3(ACSF3):c.28C>T (p.Arg10Trp)
|
rs202182978
|
0.00016
|
NM_001243279.3(ACSF3):c.358G>A (p.Gly120Ser)
|
rs200703917
|
0.00016
|
NM_001609.4(ACADSB):c.1128+2dup
|
rs762666946
|
0.00016
|
NM_005050.4(ABCD4):c.565A>G (p.Ser189Gly)
|
rs183607306
|
0.00016
|
NM_020166.5(MCCC1):c.1894C>T (p.Pro632Ser)
|
rs142867987
|
0.00015
|
NM_022132.5(MCCC2):c.701G>A (p.Arg234His)
|
rs202100813
|
0.00015
|
NM_022132.5(MCCC2):c.746C>T (p.Ala249Val)
|
rs141676987
|
0.00015
|
NM_001243279.3(ACSF3):c.80G>A (p.Arg27Lys)
|
rs756279730
|
0.00014
|
NM_005050.4(ABCD4):c.719+6T>C
|
rs755014125
|
0.00014
|
NM_014384.3(ACAD8):c.384G>A (p.Met128Ile)
|
rs374317179
|
0.00014
|
NM_015506.3(MMACHC):c.770C>T (p.Pro257Leu)
|
rs201601241
|
0.00014
|
NM_032861.4(SERAC1):c.1483A>C (p.Ile495Leu)
|
rs370591885
|
0.00014
|
NM_032861.4(SERAC1):c.1538C>T (p.Thr513Met)
|
rs143065058
|
0.00014
|
NM_052845.4(MMAB):c.503C>T (p.Thr168Met)
|
rs200690789
|
0.00014
|
NM_001352514.2(HLCS):c.1550C>T (p.Thr517Ile)
|
rs575286749
|
0.00013
|
NM_001352514.2(HLCS):c.2407C>T (p.Pro803Ser)
|
rs538159086
|
0.00013
|
NM_015506.3(MMACHC):c.584G>C (p.Gly195Ala)
|
rs754862915
|
0.00013
|
NM_015702.3(MMADHC):c.10-9C>G
|
rs376032730
|
0.00013
|
NM_018368.4(LMBRD1):c.1168A>G (p.Ile390Val)
|
rs140727621
|
0.00013
|
NM_022132.5(MCCC2):c.384-20A>G
|
rs770917710
|
0.00013
|
NM_032861.4(SERAC1):c.391T>C (p.Cys131Arg)
|
rs147085187
|
0.00013
|
NM_000019.4(ACAT1):c.1003A>G (p.Met335Val)
|
rs369440498
|
0.00012
|
NM_000116.5(TAFAZZIN):c.562G>A (p.Glu188Lys)
|
rs375663114
|
0.00012
|
NM_000191.3(HMGCL):c.419A>G (p.Asn140Ser)
|
rs148032473
|
0.00012
|
NM_000532.5(PCCB):c.23C>T (p.Ala8Val)
|
rs764602019
|
0.00012
|
NM_000532.5(PCCB):c.250A>G (p.Met84Val)
|
rs201950515
|
0.00012
|
NM_001243279.3(ACSF3):c.1643C>T (p.Ser548Leu)
|
rs139520739
|
0.00012
|
NM_001243279.3(ACSF3):c.796A>G (p.Met266Val)
|
rs141607995
|
0.00012
|
NM_001370658.1(BTD):c.38G>T (p.Cys13Phe)
|
rs141131444
|
0.00012
|
NM_001370658.1(BTD):c.653G>C (p.Gly218Ala)
|
rs144901367
|
0.00012
|
NM_014362.4(HIBCH):c.794T>C (p.Met265Thr)
|
rs201049927
|
0.00012
|
NM_014384.3(ACAD8):c.607G>A (p.Val203Ile)
|
rs759877257
|
0.00012
|
NM_020166.5(MCCC1):c.1561G>A (p.Ala521Thr)
|
rs149957640
|
0.00012
|
NM_022132.5(MCCC2):c.137A>G (p.Tyr46Cys)
|
rs144578800
|
0.00012
|
NM_052845.4(MMAB):c.584+6A>G
|
rs767719463
|
0.00012
|
NM_172250.3(MMAA):c.941G>A (p.Arg314His)
|
rs148142853
|
0.00012
|
NM_000191.3(HMGCL):c.340G>A (p.Glu114Lys)
|
rs200955062
|
0.00011
|
NM_000191.3(HMGCL):c.56G>C (p.Arg19Pro)
|
rs377359610
|
0.00011
|
NM_001243279.3(ACSF3):c.145C>T (p.Arg49Cys)
|
rs141518662
|
0.00011
|
NM_001243279.3(ACSF3):c.625C>G (p.Pro209Ala)
|
rs201953109
|
0.00011
|
NM_001698.3(AUH):c.926A>C (p.Glu309Ala)
|
rs749713024
|
0.00011
|
NM_002225.5(IVD):c.961T>C (p.Leu321=)
|
rs146011049
|
0.00011
|
NM_014384.3(ACAD8):c.887G>A (p.Arg296Gln)
|
rs775062752
|
0.00011
|
NM_020166.5(MCCC1):c.535G>A (p.Glu179Lys)
|
rs201758122
|
0.00011
|
NM_022132.5(MCCC2):c.1282G>A (p.Ala428Thr)
|
rs371374378
|
0.00011
|
NM_022132.5(MCCC2):c.58C>T (p.Pro20Ser)
|
rs371336335
|
0.00011
|
NM_000282.4(PCCA):c.1519G>A (p.Val507Met)
|
rs146061036
|
0.00010
|
NM_000282.4(PCCA):c.2039C>T (p.Ala680Val)
|
rs376383373
|
0.00010
|
NM_001243279.3(ACSF3):c.527C>A (p.Thr176Asn)
|
rs368696141
|
0.00010
|
NM_001258392.3(CLPB):c.748C>G (p.Arg250Gly)
|
rs146762466
|
0.00010
|
NM_001370658.1(BTD):c.382C>T (p.Arg128Cys)
|
rs137877018
|
0.00010
|
NM_001609.4(ACADSB):c.725C>T (p.Pro242Leu)
|
rs143736049
|
0.00010
|
NM_001698.3(AUH):c.679G>A (p.Ala227Thr)
|
rs141700491
|
0.00010
|
NM_002225.5(IVD):c.707C>T (p.Thr236Ile)
|
rs146861563
|
0.00010
|
NM_015506.3(MMACHC):c.641G>A (p.Arg214His)
|
rs202189863
|
0.00010
|
NM_018368.4(LMBRD1):c.688G>A (p.Ala230Thr)
|
rs376081191
|
0.00010
|
NM_020166.5(MCCC1):c.1808A>G (p.Asn603Ser)
|
rs201745589
|
0.00010
|
NM_001243279.3(ACSF3):c.1081G>A (p.Gly361Ser)
|
rs145285434
|
0.00009
|
NM_001243279.3(ACSF3):c.122A>T (p.Asp41Val)
|
rs545886514
|
0.00009
|
NM_001352514.2(HLCS):c.2432A>G (p.Tyr811Cys)
|
rs776535574
|
0.00009
|
NM_001698.3(AUH):c.20C>T (p.Ala7Val)
|
rs863223911
|
0.00009
|
NM_001698.3(AUH):c.998C>T (p.Pro333Leu)
|
rs541546111
|
0.00009
|
NM_005050.4(ABCD4):c.5C>T (p.Ala2Val)
|
rs368445200
|
0.00009
|
NM_005050.4(ABCD4):c.956A>G (p.Tyr319Cys)
|
rs201777056
|
0.00009
|
NM_014362.4(HIBCH):c.1036G>A (p.Val346Ile)
|
rs367938014
|
0.00009
|
NM_014384.3(ACAD8):c.481A>G (p.Thr161Ala)
|
rs186756646
|
0.00009
|
NM_015506.3(MMACHC):c.650A>T (p.Glu217Val)
|
rs199641732
|
0.00009
|
NM_022132.5(MCCC2):c.650C>T (p.Thr217Ile)
|
rs144631139
|
0.00009
|
NM_030813.6(CLPB):c.653G>C (p.Gly218Ala)
|
rs377766896
|
0.00009
|
NM_032861.4(SERAC1):c.583C>T (p.Pro195Ser)
|
rs546374310
|
0.00009
|
NM_172250.3(MMAA):c.7A>G (p.Met3Val)
|
rs527340737
|
0.00009
|
NM_172250.3(MMAA):c.940C>T (p.Arg314Cys)
|
rs374795215
|
0.00009
|
NM_000019.4(ACAT1):c.91C>T (p.Arg31Trp)
|
rs199952982
|
0.00008
|
NM_000282.4(PCCA):c.1289G>A (p.Arg430Gln)
|
rs187346936
|
0.00008
|
NM_000282.4(PCCA):c.1840G>A (p.Val614Ile)
|
rs201570336
|
0.00008
|
NM_001352514.2(HLCS):c.601G>C (p.Glu201Gln)
|
rs373822815
|
0.00008
|
NM_001609.4(ACADSB):c.1213C>T (p.Arg405Ter)
|
rs200154326
|
0.00008
|
NM_001609.4(ACADSB):c.202G>T (p.Val68Phe)
|
rs144894218
|
0.00008
|
NM_014362.4(HIBCH):c.238G>C (p.Glu80Gln)
|
rs200185893
|
0.00008
|
NM_018368.4(LMBRD1):c.802G>A (p.Ala268Thr)
|
rs143758103
|
0.00008
|
NM_032861.4(SERAC1):c.418A>G (p.Ser140Gly)
|
rs370340688
|
0.00008
|
NM_172250.3(MMAA):c.1078C>T (p.Arg360Trp)
|
rs6812252
|
0.00008
|
NM_000019.4(ACAT1):c.1198C>T (p.His400Tyr)
|
rs201183545
|
0.00007
|
NM_000191.3(HMGCL):c.244G>A (p.Val82Ile)
|
rs538620811
|
0.00007
|
NM_000532.5(PCCB):c.8C>T (p.Ala3Val)
|
rs373685372
|
0.00007
|
NM_001243279.3(ACSF3):c.130G>A (p.Ala44Thr)
|
rs759448696
|
0.00007
|
NM_001243279.3(ACSF3):c.392C>T (p.Ala131Val)
|
rs148768970
|
0.00007
|
NM_001258392.3(CLPB):c.370G>T (p.Val124Phe)
|
rs139361195
|
0.00007
|
NM_001258392.3(CLPB):c.610A>G (p.Lys204Glu)
|
rs538184539
|
0.00007
|
NM_001352514.2(HLCS):c.2500G>A (p.Val834Ile)
|
rs145648338
|
0.00007
|
NM_005050.4(ABCD4):c.425+6C>T
|
rs368213518
|
0.00007
|
NM_014384.3(ACAD8):c.455T>C (p.Met152Thr)
|
rs121908418
|
0.00007
|
NM_052845.4(MMAB):c.14G>A (p.Gly5Asp)
|
rs769048646
|
0.00007
|
NM_052845.4(MMAB):c.79C>T (p.Leu27Phe)
|
rs150895111
|
0.00007
|
NM_172250.3(MMAA):c.977G>A (p.Arg326His)
|
rs201547892
|
0.00007
|
NM_000116.5(TAFAZZIN):c.751C>T (p.Arg251Trp)
|
rs372689133
|
0.00006
|
NM_000191.3(HMGCL):c.151G>A (p.Val51Ile)
|
rs142942001
|
0.00006
|
NM_000282.4(PCCA):c.522G>A (p.Met174Ile)
|
rs780406346
|
0.00006
|
NM_000532.5(PCCB):c.554C>T (p.Thr185Met)
|
rs369612150
|
0.00006
|
NM_000532.5(PCCB):c.641C>T (p.Thr214Met)
|
rs375740942
|
0.00006
|
NM_000532.5(PCCB):c.707A>G (p.Asn236Ser)
|
rs778955184
|
0.00006
|
NM_000532.5(PCCB):c.744G>C (p.Lys248Asn)
|
rs757845027
|
0.00006
|
NM_000532.5(PCCB):c.818A>T (p.Asp273Val)
|
rs765749691
|
0.00006
|
NM_001243279.3(ACSF3):c.943G>A (p.Asp315Asn)
|
rs774006607
|
0.00006
|
NM_001258392.3(CLPB):c.1247G>T (p.Cys416Phe)
|
rs559592563
|
0.00006
|
NM_001258392.3(CLPB):c.1978C>T (p.Arg660Cys)
|
rs140963713
|
0.00006
|
NM_001258392.3(CLPB):c.844A>G (p.Met282Val)
|
rs773028492
|
0.00006
|
NM_001352514.2(HLCS):c.988C>T (p.Arg330Trp)
|
rs150431185
|
0.00006
|
NM_001609.4(ACADSB):c.1015G>A (p.Val339Met)
|
rs150034487
|
0.00006
|
NM_001698.3(AUH):c.1004G>A (p.Arg335His)
|
rs529693736
|
0.00006
|
NM_002225.5(IVD):c.490A>G (p.Met164Val)
|
rs574434706
|
0.00006
|
NM_014384.3(ACAD8):c.1154A>G (p.Gln385Arg)
|
rs367996531
|
0.00006
|
NM_014384.3(ACAD8):c.985G>A (p.Ala329Thr)
|
rs751260935
|
0.00006
|
NM_015506.3(MMACHC):c.688C>T (p.Arg230Ter)
|
rs201183360
|
0.00006
|
NM_015702.3(MMADHC):c.254A>G (p.Asn85Ser)
|
rs767542742
|
0.00006
|
NM_018368.4(LMBRD1):c.1343A>C (p.Asn448Thr)
|
rs375328924
|
0.00006
|
NM_018368.4(LMBRD1):c.1438A>G (p.Thr480Ala)
|
rs138023744
|
0.00006
|
NM_018368.4(LMBRD1):c.1510G>T (p.Val504Leu)
|
rs980145400
|
0.00006
|
NM_018368.4(LMBRD1):c.562C>T (p.His188Tyr)
|
rs554554993
|
0.00006
|
NM_018368.4(LMBRD1):c.94T>C (p.Tyr32His)
|
rs373241693
|
0.00006
|
NM_020166.5(MCCC1):c.1367G>A (p.Arg456His)
|
rs146689034
|
0.00006
|
NM_020166.5(MCCC1):c.1474C>T (p.His492Tyr)
|
rs371795972
|
0.00006
|
NM_020166.5(MCCC1):c.1700C>T (p.Thr567Met)
|
rs762639338
|
0.00006
|
NM_025136.4(OPA3):c.428C>T (p.Ala143Val)
|
rs553598004
|
0.00006
|
NM_030813.6(CLPB):c.670C>T (p.Arg224Trp)
|
rs149056885
|
0.00006
|
NM_030813.6(CLPB):c.735C>T (p.Gly245=)
|
rs201151763
|
0.00006
|
NM_032861.4(SERAC1):c.1084A>T (p.Ile362Phe)
|
rs537530231
|
0.00006
|
NM_052845.4(MMAB):c.256G>A (p.Val86Met)
|
rs143935056
|
0.00006
|
NM_052845.4(MMAB):c.472G>A (p.Asp158Asn)
|
rs925180956
|
0.00006
|
NM_145261.4(DNAJC19):c.280+5G>C
|
rs762722601
|
0.00006
|
NM_172250.3(MMAA):c.850G>C (p.Asp284His)
|
rs758654806
|
0.00006
|
NM_172250.3(MMAA):c.947G>A (p.Arg316His)
|
rs377228966
|
0.00006
|
NM_000019.4(ACAT1):c.34G>A (p.Ala12Thr)
|
rs764674778
|
0.00005
|
NM_000191.3(HMGCL):c.470C>T (p.Ala157Val)
|
rs147752765
|
0.00005
|
NM_000282.4(PCCA):c.1154A>G (p.Lys385Arg)
|
rs192543675
|
0.00005
|
NM_001243279.3(ACSF3):c.1670C>T (p.Pro557Leu)
|
rs780364085
|
0.00005
|
NM_001243279.3(ACSF3):c.194G>A (p.Arg65His)
|
rs745633046
|
0.00005
|
NM_001243279.3(ACSF3):c.828G>T (p.Trp276Cys)
|
rs570233664
|
0.00005
|
NM_001258392.3(CLPB):c.1570C>T (p.Arg524Trp)
|
rs200299650
|
0.00005
|
NM_001258392.3(CLPB):c.1994G>A (p.Arg665Gln)
|
rs374538248
|
0.00005
|
NM_001352514.2(HLCS):c.1910C>T (p.Pro637Leu)
|
rs536067980
|
0.00005
|
NM_001370658.1(BTD):c.847C>T (p.His283Tyr)
|
rs144084212
|
0.00005
|
NM_001609.4(ACADSB):c.1145C>T (p.Thr382Met)
|
rs772084235
|
0.00005
|
NM_001609.4(ACADSB):c.439A>T (p.Asn147Tyr)
|
rs747291865
|
0.00005
|
NM_001698.3(AUH):c.158G>T (p.Gly53Val)
|
rs747819278
|
0.00005
|
NM_001698.3(AUH):c.991A>T (p.Lys331Ter)
|
rs387906757
|
0.00005
|
NM_002225.5(IVD):c.832A>C (p.Ser278Arg)
|
rs552272986
|
0.00005
|
NM_005050.4(ABCD4):c.1028+5G>A
|
rs533842238
|
0.00005
|
NM_005050.4(ABCD4):c.364C>T (p.Leu122Phe)
|
rs141808601
|
0.00005
|
NM_005050.4(ABCD4):c.611T>C (p.Leu204Ser)
|
rs538521064
|
0.00005
|
NM_005334.3(HCFC1):c.4687G>A (p.Gly1563Ser)
|
rs782310209
|
0.00005
|
NM_014384.3(ACAD8):c.443C>T (p.Pro148Leu)
|
rs374584216
|
0.00005
|
NM_015506.3(MMACHC):c.329A>G (p.Asn110Ser)
|
rs781133955
|
0.00005
|
NM_018368.4(LMBRD1):c.416C>T (p.Thr139Met)
|
rs767657325
|
0.00005
|
NM_018368.4(LMBRD1):c.905G>A (p.Arg302His)
|
rs142962811
|
0.00005
|
NM_020166.5(MCCC1):c.2035G>A (p.Ala679Thr)
|
rs202192191
|
0.00005
|
NM_020166.5(MCCC1):c.230C>T (p.Ala77Val)
|
rs776594363
|
0.00005
|
NM_020166.5(MCCC1):c.71G>C (p.Ser24Thr)
|
rs762409158
|
0.00005
|
NM_022132.5(MCCC2):c.641G>C (p.Gly214Ala)
|
rs277995
|
0.00005
|
NM_052845.4(MMAB):c.44G>A (p.Arg15His)
|
rs367711757
|
0.00005
|
NM_172250.3(MMAA):c.175G>C (p.Asp59His)
|
rs371779800
|
0.00005
|
NM_172250.3(MMAA):c.989G>A (p.Arg330Gln)
|
rs140031911
|
0.00005
|
NM_000019.4(ACAT1):c.1279C>A (p.Leu427Met)
|
rs201500937
|
0.00004
|
NM_000019.4(ACAT1):c.770A>C (p.Lys257Thr)
|
rs370652435
|
0.00004
|
NM_000191.3(HMGCL):c.40G>C (p.Gly14Arg)
|
rs764292245
|
0.00004
|
NM_000191.3(HMGCL):c.805G>A (p.Ala269Thr)
|
rs368688262
|
0.00004
|
NM_000191.3(HMGCL):c.950A>G (p.Lys317Arg)
|
rs777758512
|
0.00004
|
NM_000282.4(PCCA):c.1763C>T (p.Ser588Leu)
|
rs532947142
|
0.00004
|
NM_000282.4(PCCA):c.2069T>C (p.Ile690Thr)
|
rs376535469
|
0.00004
|
NM_000282.4(PCCA):c.943G>A (p.Ala315Thr)
|
rs759223615
|
0.00004
|
NM_000532.5(PCCB):c.1355A>G (p.Asn452Ser)
|
rs746240889
|
0.00004
|
NM_000532.5(PCCB):c.163A>G (p.Ile55Val)
|
rs561539546
|
0.00004
|
NM_000532.5(PCCB):c.169G>A (p.Ala57Thr)
|
rs371406048
|
0.00004
|
NM_000532.5(PCCB):c.306T>G (p.Phe102Leu)
|
rs770601332
|
0.00004
|
NM_000532.5(PCCB):c.613G>A (p.Val205Ile)
|
rs141956198
|
0.00004
|
NM_000532.5(PCCB):c.764-3T>C
|
rs147939913
|
0.00004
|
NM_000532.5(PCCB):c.950T>A (p.Val317Glu)
|
rs762758029
|
0.00004
|
NM_001243279.3(ACSF3):c.116G>A (p.Arg39His)
|
rs144711526
|
0.00004
|
NM_001243279.3(ACSF3):c.1375G>A (p.Val459Met)
|
rs200029061
|
0.00004
|
NM_001243279.3(ACSF3):c.1553C>A (p.Ala518Asp)
|
rs761852278
|
0.00004
|
NM_001243279.3(ACSF3):c.16G>C (p.Val6Leu)
|
rs776314400
|
0.00004
|
NM_001243279.3(ACSF3):c.506C>T (p.Pro169Leu)
|
rs377732201
|
0.00004
|
NM_001258392.3(CLPB):c.1979G>A (p.Arg660His)
|
rs758613799
|
0.00004
|
NM_001258392.3(CLPB):c.628G>A (p.Gly210Arg)
|
rs756161923
|
0.00004
|
NM_001258392.3(CLPB):c.896G>A (p.Arg299His)
|
rs547532550
|
0.00004
|
NM_001352514.2(HLCS):c.910C>T (p.Leu304Phe)
|
rs763508196
|
0.00004
|
NM_001370658.1(BTD):c.-38G>A
|
rs138473616
|
0.00004
|
NM_001370658.1(BTD):c.261T>G (p.Ile87Met)
|
rs1024847163
|
0.00004
|
NM_001370658.1(BTD):c.49G>A (p.Val17Met)
|
rs772369148
|
0.00004
|
NM_001609.4(ACADSB):c.1232C>T (p.Thr411Met)
|
rs374629804
|
0.00004
|
NM_001609.4(ACADSB):c.157C>T (p.Pro53Ser)
|
rs150022323
|
0.00004
|
NM_001609.4(ACADSB):c.733C>T (p.His245Tyr)
|
rs761098384
|
0.00004
|
NM_001698.3(AUH):c.374G>A (p.Arg125Gln)
|
rs137939308
|
0.00004
|
NM_002225.5(IVD):c.1243G>A (p.Gly415Ser)
|
rs150855952
|
0.00004
|
NM_002225.5(IVD):c.52C>T (p.Arg18Trp)
|
rs375138989
|
0.00004
|
NM_005050.4(ABCD4):c.1237G>A (p.Glu413Lys)
|
rs374984401
|
0.00004
|
NM_005050.4(ABCD4):c.362G>A (p.Arg121His)
|
rs201744101
|
0.00004
|
NM_005050.4(ABCD4):c.503C>T (p.Pro168Leu)
|
rs747354548
|
0.00004
|
NM_005334.3(HCFC1):c.4574C>T (p.Thr1525Ile)
|
rs782370174
|
0.00004
|
NM_014384.3(ACAD8):c.1004A>G (p.Asn335Ser)
|
rs768954546
|
0.00004
|
NM_014384.3(ACAD8):c.1147G>A (p.Ala383Thr)
|
rs200234092
|
0.00004
|
NM_014384.3(ACAD8):c.965T>C (p.Met322Thr)
|
rs577976129
|
0.00004
|
NM_015506.3(MMACHC):c.733T>C (p.Ser245Pro)
|
rs779575471
|
0.00004
|
NM_015506.3(MMACHC):c.88T>C (p.Trp30Arg)
|
rs745419717
|
0.00004
|
NM_018368.4(LMBRD1):c.101G>A (p.Arg34His)
|
rs150831620
|
0.00004
|
NM_018368.4(LMBRD1):c.119G>A (p.Arg40Gln)
|
rs777374813
|
0.00004
|
NM_018368.4(LMBRD1):c.1556C>T (p.Ser519Leu)
|
rs373481039
|
0.00004
|
NM_018368.4(LMBRD1):c.694T>A (p.Tyr232Asn)
|
rs370829456
|
0.00004
|
NM_018368.4(LMBRD1):c.73A>G (p.Ile25Val)
|
rs772119224
|
0.00004
|
NM_020166.5(MCCC1):c.1768T>C (p.Tyr590His)
|
rs143892743
|
0.00004
|
NM_020166.5(MCCC1):c.623G>A (p.Arg208Gln)
|
rs780352053
|
0.00004
|
NM_022132.5(MCCC2):c.1120G>A (p.Gly374Arg)
|
rs753784414
|
0.00004
|
NM_022132.5(MCCC2):c.1406G>A (p.Arg469His)
|
rs750965429
|
0.00004
|
NM_022132.5(MCCC2):c.1488+3C>T
|
rs374049769
|
0.00004
|
NM_022132.5(MCCC2):c.1663A>G (p.Lys555Glu)
|
rs1257849672
|
0.00004
|
NM_022132.5(MCCC2):c.355A>G (p.Ile119Val)
|
rs770437473
|
0.00004
|
NM_022132.5(MCCC2):c.418G>A (p.Val140Ile)
|
rs553444289
|
0.00004
|
NM_025136.4(OPA3):c.372C>A (p.Asp124Glu)
|
rs755348694
|
0.00004
|
NM_030813.6(CLPB):c.715T>C (p.Trp239Arg)
|
rs746357833
|
0.00004
|
NM_032861.4(SERAC1):c.1640G>A (p.Arg547His)
|
rs756639108
|
0.00004
|
NM_032861.4(SERAC1):c.1763del (p.Val588fs)
|
rs770661156
|
0.00004
|
NM_032861.4(SERAC1):c.413G>A (p.Arg138Gln)
|
rs863224200
|
0.00004
|
NM_032861.4(SERAC1):c.524C>T (p.Pro175Leu)
|
rs536508664
|
0.00004
|
NM_032861.4(SERAC1):c.553G>A (p.Glu185Lys)
|
rs543967244
|
0.00004
|
NM_032861.4(SERAC1):c.674A>G (p.Glu225Gly)
|
rs375757326
|
0.00004
|
NM_032861.4(SERAC1):c.69T>G (p.Ser23Arg)
|
rs754908475
|
0.00004
|
NM_032861.4(SERAC1):c.855A>G (p.Ile285Met)
|
rs745441822
|
0.00004
|
NM_052845.4(MMAB):c.326C>T (p.Thr109Ile)
|
rs762404377
|
0.00004
|
NM_145261.4(DNAJC19):c.280+1G>A
|
rs774006022
|
0.00004
|
NM_172250.3(MMAA):c.610A>G (p.Met204Val)
|
rs370375675
|
0.00004
|
NM_172250.3(MMAA):c.65G>A (p.Arg22Gln)
|
rs375682603
|
0.00004
|
NM_000019.4(ACAT1):c.709C>A (p.Pro237Thr)
|
rs754478568
|
0.00003
|
NM_000019.4(ACAT1):c.721A>G (p.Thr241Ala)
|
rs752592672
|
0.00003
|
NM_000019.4(ACAT1):c.967A>G (p.Ile323Val)
|
rs1282394804
|
0.00003
|
NM_000116.5(TAFAZZIN):c.27C>G (p.Phe9Leu)
|
rs1223065368
|
0.00003
|
NM_000116.5(TAFAZZIN):c.674C>T (p.Pro225Leu)
|
rs375151766
|
0.00003
|
NM_000116.5(TAFAZZIN):c.758G>A (p.Arg253Gln)
|
rs782653725
|
0.00003
|
NM_000116.5(TAFAZZIN):c.763G>A (p.Glu255Lys)
|
rs782498694
|
0.00003
|
NM_000191.3(HMGCL):c.349-3C>A
|
rs777476731
|
0.00003
|
NM_000191.3(HMGCL):c.651G>T (p.Met217Ile)
|
rs746968587
|
0.00003
|
NM_000191.3(HMGCL):c.94C>T (p.Arg32Trp)
|
rs759745527
|
0.00003
|
NM_000282.4(PCCA):c.130T>C (p.Cys44Arg)
|
rs905391740
|
0.00003
|
NM_000282.4(PCCA):c.1342A>G (p.Met448Val)
|
rs767060690
|
0.00003
|
NM_000282.4(PCCA):c.1457G>A (p.Arg486Gln)
|
rs183239835
|
0.00003
|
NM_000282.4(PCCA):c.1730A>G (p.Asn577Ser)
|
rs887791543
|
0.00003
|
NM_000282.4(PCCA):c.1933G>A (p.Glu645Lys)
|
rs145428347
|
0.00003
|
NM_000282.4(PCCA):c.1987C>T (p.Arg663Cys)
|
rs200710812
|
0.00003
|
NM_000282.4(PCCA):c.2133_2135del (p.Cys712del)
|
rs1316778844
|
0.00003
|
NM_000282.4(PCCA):c.2T>C (p.Met1Thr)
|
rs372093520
|
0.00003
|
NM_000282.4(PCCA):c.65C>T (p.Pro22Leu)
|
rs773397570
|
0.00003
|
NM_000282.4(PCCA):c.803G>A (p.Arg268His)
|
rs368047060
|
0.00003
|
NM_000532.5(PCCB):c.1312G>T (p.Ala438Ser)
|
rs752758930
|
0.00003
|
NM_000532.5(PCCB):c.1511A>C (p.Asp504Ala)
|
rs1027171385
|
0.00003
|
NM_000532.5(PCCB):c.167A>G (p.Asp56Gly)
|
rs1422527852
|
0.00003
|
NM_000532.5(PCCB):c.475A>G (p.Asn159Asp)
|
rs373189621
|
0.00003
|
NM_000532.5(PCCB):c.862G>C (p.Val288Leu)
|
rs201984177
|
0.00003
|
NM_000532.5(PCCB):c.865C>T (p.Arg289Cys)
|
rs771935604
|
0.00003
|
NM_000532.5(PCCB):c.890G>A (p.Arg297His)
|
rs147379583
|
0.00003
|
NM_000532.5(PCCB):c.988T>G (p.Phe330Val)
|
rs748708704
|
0.00003
|
NM_001243279.3(ACSF3):c.29G>A (p.Arg10Gln)
|
rs751551226
|
0.00003
|
NM_001243279.3(ACSF3):c.86G>C (p.Ser29Thr)
|
rs754161182
|
0.00003
|
NM_001243279.3(ACSF3):c.953G>A (p.Arg318His)
|
rs200352879
|
0.00003
|
NM_001258392.3(CLPB):c.1692G>T (p.Arg564Ser)
|
rs778761751
|
0.00003
|
NM_001258392.3(CLPB):c.1786-3C>T
|
rs372126133
|
0.00003
|
NM_001258392.3(CLPB):c.890G>A (p.Arg297Gln)
|
rs762784246
|
0.00003
|
NM_001352514.2(HLCS):c.1122A>C (p.Glu374Asp)
|
rs780469041
|
0.00003
|
NM_001352514.2(HLCS):c.1237A>C (p.Thr413Pro)
|
rs747122714
|
0.00003
|
NM_001352514.2(HLCS):c.1328T>G (p.Val443Gly)
|
rs778061862
|
0.00003
|
NM_001352514.2(HLCS):c.1480C>T (p.Pro494Ser)
|
rs556454789
|
0.00003
|
NM_001352514.2(HLCS):c.2584G>A (p.Asp862Asn)
|
rs140014588
|
0.00003
|
NM_001352514.2(HLCS):c.841G>A (p.Asp281Asn)
|
rs148426470
|
0.00003
|
NM_001370658.1(BTD):c.1046C>T (p.Pro349Leu)
|
rs397514400
|
0.00003
|
NM_001370658.1(BTD):c.604G>A (p.Asp202Asn)
|
rs200337373
|
0.00003
|
NM_001370658.1(BTD):c.908A>G (p.His303Arg)
|
rs397507176
|
0.00003
|
NM_001609.4(ACADSB):c.1151A>T (p.Lys384Ile)
|
rs760585344
|
0.00003
|
NM_001609.4(ACADSB):c.1186A>G (p.Lys396Glu)
|
rs199963793
|
0.00003
|
NM_001609.4(ACADSB):c.176A>G (p.Asp59Gly)
|
rs1375520384
|
0.00003
|
NM_001698.3(AUH):c.746A>G (p.Lys249Arg)
|
rs752072326
|
0.00003
|
NM_002225.5(IVD):c.1001T>C (p.Met334Thr)
|
rs368041528
|
0.00003
|
NM_002225.5(IVD):c.851G>A (p.Arg284Gln)
|
rs373534546
|
0.00003
|
NM_002225.5(IVD):c.895C>G (p.Leu299Val)
|
rs149247895
|
0.00003
|
NM_005050.4(ABCD4):c.1172G>A (p.Arg391Gln)
|
rs747987460
|
0.00003
|
NM_005334.3(HCFC1):c.3604G>A (p.Gly1202Arg)
|
rs1439756712
|
0.00003
|
NM_005334.3(HCFC1):c.3731G>A (p.Arg1244His)
|
rs782013532
|
0.00003
|
NM_005334.3(HCFC1):c.4733C>T (p.Thr1578Ile)
|
rs1252960661
|
0.00003
|
NM_018368.4(LMBRD1):c.1144A>G (p.Met382Val)
|
rs561540830
|
0.00003
|
NM_018368.4(LMBRD1):c.277A>G (p.Ile93Val)
|
rs771282181
|
0.00003
|
NM_018368.4(LMBRD1):c.545A>G (p.Glu182Gly)
|
rs759703455
|
0.00003
|
NM_020166.5(MCCC1):c.1262G>A (p.Arg421Gln)
|
rs761249521
|
0.00003
|
NM_020166.5(MCCC1):c.1565T>C (p.Met522Thr)
|
rs768011454
|
0.00003
|
NM_020166.5(MCCC1):c.1715G>C (p.Gly572Ala)
|
rs182830931
|
0.00003
|
NM_020166.5(MCCC1):c.2015A>G (p.Asp672Gly)
|
rs992786696
|
0.00003
|
NM_020166.5(MCCC1):c.2089G>A (p.Val697Met)
|
rs776138490
|
0.00003
|
NM_020166.5(MCCC1):c.559T>C (p.Ser187Pro)
|
rs757362635
|
0.00003
|
NM_020166.5(MCCC1):c.873G>A (p.Ala291=)
|
rs138794621
|
0.00003
|
NM_022132.5(MCCC2):c.1504G>C (p.Glu502Gln)
|
rs767326357
|
0.00003
|
NM_022132.5(MCCC2):c.637A>G (p.Met213Val)
|
rs769875413
|
0.00003
|
NM_022132.5(MCCC2):c.700C>T (p.Arg234Cys)
|
rs549784997
|
0.00003
|
NM_025136.4(OPA3):c.143-5C>A
|
rs770452409
|
0.00003
|
NM_025136.4(OPA3):c.526G>A (p.Ala176Thr)
|
rs755841329
|
0.00003
|
NM_032861.4(SERAC1):c.1292C>T (p.Thr431Met)
|
rs779852958
|
0.00003
|
NM_032861.4(SERAC1):c.329C>T (p.Ala110Val)
|
rs368403843
|
0.00003
|
NM_052845.4(MMAB):c.316A>G (p.Lys106Glu)
|
rs765917146
|
0.00003
|
NM_052845.4(MMAB):c.370G>A (p.Val124Ile)
|
rs573706523
|
0.00003
|
NM_052845.4(MMAB):c.377C>T (p.Ser126Leu)
|
rs771053425
|
0.00003
|
NM_052845.4(MMAB):c.539C>T (p.Ser180Leu)
|
rs368584846
|
0.00003
|
NM_052845.4(MMAB):c.583C>T (p.Arg195Cys)
|
rs199853576
|
0.00003
|
NM_145261.4(DNAJC19):c.59G>A (p.Arg20His)
|
rs756192515
|
0.00003
|
NM_000019.4(ACAT1):c.776T>C (p.Val259Ala)
|
rs746059964
|
0.00002
|
NM_000116.5(TAFAZZIN):c.13G>T (p.Val5Leu)
|
rs397515737
|
0.00002
|
NM_000116.5(TAFAZZIN):c.154G>A (p.Glu52Lys)
|
rs794729166
|
0.00002
|
NM_000116.5(TAFAZZIN):c.254G>A (p.Arg85His)
|
rs782196269
|
0.00002
|
NM_000116.5(TAFAZZIN):c.331C>T (p.His111Tyr)
|
rs200405157
|
0.00002
|
NM_000116.5(TAFAZZIN):c.407G>T (p.Gly136Val)
|
rs782240044
|
0.00002
|
NM_000116.5(TAFAZZIN):c.437G>T (p.Gly146Val)
|
rs782401618
|
0.00002
|
NM_000116.5(TAFAZZIN):c.469G>A (p.Val157Ile)
|
rs782173851
|
0.00002
|
NM_000116.5(TAFAZZIN):c.606G>C (p.Glu202Asp)
|
rs781893396
|
0.00002
|
NM_000116.5(TAFAZZIN):c.768C>G (p.Asn256Lys)
|
rs926124671
|
0.00002
|
NM_000116.5(TAFAZZIN):c.779T>G (p.Val260Gly)
|
rs782746355
|
0.00002
|
NM_000191.3(HMGCL):c.184A>G (p.Met62Val)
|
rs373738626
|
0.00002
|
NM_000191.3(HMGCL):c.208G>C (p.Val70Leu)
|
rs121964996
|
0.00002
|
NM_000191.3(HMGCL):c.374T>G (p.Val125Gly)
|
rs905961108
|
0.00002
|
NM_000191.3(HMGCL):c.409A>G (p.Lys137Glu)
|
rs377359510
|
0.00002
|
NM_000191.3(HMGCL):c.583A>G (p.Met195Val)
|
rs764360500
|
0.00002
|
NM_000191.3(HMGCL):c.733A>T (p.Thr245Ser)
|
rs764926275
|
0.00002
|
NM_000191.3(HMGCL):c.734C>T (p.Thr245Ile)
|
rs761468576
|
0.00002
|
NM_000282.4(PCCA):c.1275T>G (p.His425Gln)
|
rs548833871
|
0.00002
|
NM_000282.4(PCCA):c.1430G>A (p.Gly477Asp)
|
rs776355907
|
0.00002
|
NM_000282.4(PCCA):c.146G>A (p.Arg49His)
|
rs570674073
|
0.00002
|
NM_000282.4(PCCA):c.2150C>T (p.Thr717Ile)
|
rs548026367
|
0.00002
|
NM_000282.4(PCCA):c.50G>A (p.Arg17His)
|
rs768914819
|
0.00002
|
NM_000282.4(PCCA):c.526G>A (p.Asp176Asn)
|
rs1047690554
|
0.00002
|
NM_000282.4(PCCA):c.590G>C (p.Gly197Ala)
|
rs766245108
|
0.00002
|
NM_000282.4(PCCA):c.61C>T (p.Pro21Ser)
|
rs369743452
|
0.00002
|
NM_000282.4(PCCA):c.809T>C (p.Ile270Thr)
|
rs773749632
|
0.00002
|
NM_000282.4(PCCA):c.955C>G (p.Gln319Glu)
|
rs750840362
|
0.00002
|
NM_000532.5(PCCB):c.1132G>A (p.Val378Ile)
|
rs761529521
|
0.00002
|
NM_000532.5(PCCB):c.131G>A (p.Arg44Gln)
|
rs375014273
|
0.00002
|
NM_000532.5(PCCB):c.1372G>A (p.Ala458Thr)
|
rs542389615
|
0.00002
|
NM_000532.5(PCCB):c.449C>T (p.Thr150Met)
|
rs372770908
|
0.00002
|
NM_000532.5(PCCB):c.543G>C (p.Leu181=)
|
rs777868289
|
0.00002
|
NM_001243279.3(ACSF3):c.1543C>T (p.Arg515Trp)
|
rs563580010
|
0.00002
|
NM_001243279.3(ACSF3):c.313G>A (p.Asp105Asn)
|
rs145969050
|
0.00002
|
NM_001258392.3(CLPB):c.1018G>A (p.Asp340Asn)
|
rs893057489
|
0.00002
|
NM_001258392.3(CLPB):c.1292C>T (p.Pro431Leu)
|
rs746582120
|
0.00002
|
NM_001258392.3(CLPB):c.1462C>T (p.Arg488Cys)
|
rs369380599
|
0.00002
|
NM_001258392.3(CLPB):c.1463G>A (p.Arg488His)
|
rs760399999
|
0.00002
|
NM_001258392.3(CLPB):c.1546C>T (p.Arg516Cys)
|
rs748289105
|
0.00002
|
NM_001258392.3(CLPB):c.1718G>A (p.Arg573His)
|
rs765245566
|
0.00002
|
NM_001258392.3(CLPB):c.214G>A (p.Gly72Arg)
|
rs758376345
|
0.00002
|
NM_001258392.3(CLPB):c.266G>A (p.Gly89Glu)
|
rs374729211
|
0.00002
|
NM_001258392.3(CLPB):c.299G>C (p.Gly100Ala)
|
rs777039470
|
0.00002
|
NM_001258392.3(CLPB):c.347G>C (p.Cys116Ser)
|
rs549191970
|
0.00002
|
NM_001258392.3(CLPB):c.692G>A (p.Arg231His)
|
rs772243585
|
0.00002
|
NM_001258392.3(CLPB):c.694G>A (p.Ala232Thr)
|
rs779228307
|
0.00002
|
NM_001258392.3(CLPB):c.730G>C (p.Val244Leu)
|
rs139268876
|
0.00002
|
NM_001258392.3(CLPB):c.73A>G (p.Thr25Ala)
|
rs760759093
|
0.00002
|
NM_001258392.3(CLPB):c.819G>C (p.Leu273Phe)
|
rs368150943
|
0.00002
|
NM_001258392.3(CLPB):c.914G>A (p.Arg305His)
|
rs529206633
|
0.00002
|
NM_001352514.2(HLCS):c.1810C>T (p.Arg604Cys)
|
rs547391411
|
0.00002
|
NM_001352514.2(HLCS):c.2036C>A (p.Ser679Tyr)
|
rs777373322
|
0.00002
|
NM_001352514.2(HLCS):c.2476G>A (p.Ala826Thr)
|
rs376898721
|
0.00002
|
NM_001352514.2(HLCS):c.2545G>A (p.Gly849Ser)
|
rs773752745
|
0.00002
|
NM_001352514.2(HLCS):c.2548G>A (p.Glu850Lys)
|
rs145337682
|
0.00002
|
NM_001352514.2(HLCS):c.941A>G (p.Tyr314Cys)
|
rs778638155
|
0.00002
|
NM_001370658.1(BTD):c.1042G>A (p.Asp348Asn)
|
rs769903360
|
0.00002
|
NM_001370658.1(BTD):c.1147T>G (p.Phe383Val)
|
rs104893686
|
0.00002
|
NM_001370658.1(BTD):c.751G>T (p.Ala251Ser)
|
rs144575084
|
0.00002
|
NM_001609.4(ACADSB):c.1100C>T (p.Ala367Val)
|
rs745900584
|
0.00002
|
NM_001609.4(ACADSB):c.260C>T (p.Ser87Leu)
|
rs745481903
|
0.00002
|
NM_001698.3(AUH):c.676C>T (p.Arg226Cys)
|
rs148157596
|
0.00002
|
NM_001698.3(AUH):c.719C>T (p.Ala240Val)
|
rs769894315
|
0.00002
|
NM_001698.3(AUH):c.722G>A (p.Arg241Gln)
|
rs1269002301
|
0.00002
|
NM_001698.3(AUH):c.850G>A (p.Val284Ile)
|
rs748245565
|
0.00002
|
NM_002225.5(IVD):c.-8T>C
|
rs566691073
|
0.00002
|
NM_002225.5(IVD):c.-9A>T
|
rs373594717
|
0.00002
|
NM_002225.5(IVD):c.268T>A (p.Leu90Met)
|
rs780854004
|
0.00002
|
NM_005050.4(ABCD4):c.1096G>A (p.Glu366Lys)
|
rs771010169
|
0.00002
|
NM_005050.4(ABCD4):c.20C>T (p.Ala7Val)
|
rs763842574
|
0.00002
|
NM_005050.4(ABCD4):c.859G>A (p.Val287Ile)
|
rs764251926
|
0.00002
|
NM_005334.3(HCFC1):c.3611G>A (p.Arg1204His)
|
rs782325660
|
0.00002
|
NM_005334.3(HCFC1):c.3754C>T (p.Pro1252Ser)
|
rs782399563
|
0.00002
|
NM_005334.3(HCFC1):c.4520C>T (p.Ser1507Leu)
|
rs782560491
|
0.00002
|
NM_005334.3(HCFC1):c.4910C>T (p.Ala1637Val)
|
rs1002620023
|
0.00002
|
NM_014362.4(HIBCH):c.226G>A (p.Glu76Lys)
|
rs778434126
|
0.00002
|
NM_014384.3(ACAD8):c.1036G>A (p.Asp346Asn)
|
rs150537378
|
0.00002
|
NM_014384.3(ACAD8):c.1133A>C (p.Tyr378Ser)
|
rs779459988
|
0.00002
|
NM_014384.3(ACAD8):c.290G>A (p.Gly97Glu)
|
rs1433228446
|
0.00002
|
NM_014384.3(ACAD8):c.841+6A>C
|
rs199738913
|
0.00002
|
NM_015506.3(MMACHC):c.53C>T (p.Pro18Leu)
|
rs371004372
|
0.00002
|
NM_015506.3(MMACHC):c.683C>T (p.Ala228Val)
|
rs201269886
|
0.00002
|
NM_015506.3(MMACHC):c.800G>A (p.Arg267Gln)
|
rs765822392
|
0.00002
|
NM_015702.3(MMADHC):c.364G>A (p.Glu122Lys)
|
rs777544556
|
0.00002
|
NM_018368.4(LMBRD1):c.1346T>C (p.Ile449Thr)
|
rs1340799992
|
0.00002
|
NM_018368.4(LMBRD1):c.187C>G (p.Leu63Val)
|
rs775365046
|
0.00002
|
NM_018368.4(LMBRD1):c.704T>C (p.Leu235Ser)
|
rs376076271
|
0.00002
|
NM_018368.4(LMBRD1):c.796A>G (p.Lys266Glu)
|
rs771226867
|
0.00002
|
NM_018368.4(LMBRD1):c.830G>A (p.Arg277Gln)
|
rs747354714
|
0.00002
|
NM_020166.5(MCCC1):c.1226G>T (p.Arg409Leu)
|
rs371219844
|
0.00002
|
NM_020166.5(MCCC1):c.1595A>G (p.Asp532Gly)
|
rs756076414
|
0.00002
|
NM_020166.5(MCCC1):c.161T>C (p.Ile54Thr)
|
rs796051987
|
0.00002
|
NM_020166.5(MCCC1):c.1709A>G (p.His570Arg)
|
rs761480737
|
0.00002
|
NM_020166.5(MCCC1):c.262C>T (p.His88Tyr)
|
rs778145370
|
0.00002
|
NM_020166.5(MCCC1):c.388G>A (p.Gly130Ser)
|
rs202197951
|
0.00002
|
NM_020166.5(MCCC1):c.428A>T (p.Lys143Met)
|
rs375326791
|
0.00002
|
NM_020166.5(MCCC1):c.898A>G (p.Lys300Glu)
|
rs753650692
|
0.00002
|
NM_022132.5(MCCC2):c.1124T>C (p.Val375Ala)
|
rs752139859
|
0.00002
|
NM_022132.5(MCCC2):c.1334A>G (p.Tyr445Cys)
|
rs145475202
|
0.00002
|
NM_022132.5(MCCC2):c.568C>T (p.His190Tyr)
|
rs773774134
|
0.00002
|
NM_025136.4(OPA3):c.241G>A (p.Ala81Thr)
|
rs186796646
|
0.00002
|
NM_032861.4(SERAC1):c.1270A>G (p.Met424Val)
|
rs367903368
|
0.00002
|
NM_032861.4(SERAC1):c.1642T>C (p.Tyr548His)
|
rs1331741437
|
0.00002
|
NM_032861.4(SERAC1):c.1846C>A (p.Leu616Ile)
|
rs780572089
|
0.00002
|
NM_032861.4(SERAC1):c.487+5T>C
|
rs748641688
|
0.00002
|
NM_032861.4(SERAC1):c.932G>T (p.Cys311Phe)
|
rs1449129513
|
0.00002
|
NM_052845.4(MMAB):c.373G>A (p.Gly125Ser)
|
rs193015172
|
0.00002
|
NM_052845.4(MMAB):c.589G>T (p.Val197Leu)
|
rs780166156
|
0.00002
|
NM_145261.4(DNAJC19):c.129+6A>G
|
rs192629594
|
0.00002
|
NM_145261.4(DNAJC19):c.1A>G (p.Met1Val)
|
rs372756221
|
0.00002
|
NM_145261.4(DNAJC19):c.83A>G (p.His28Arg)
|
rs776130966
|
0.00002
|
NM_172250.3(MMAA):c.347A>G (p.Lys116Arg)
|
rs772082690
|
0.00002
|
NM_000019.4(ACAT1):c.1199A>G (p.His400Arg)
|
rs761086326
|
0.00001
|
NM_000019.4(ACAT1):c.155T>C (p.Ile52Thr)
|
rs151080188
|
0.00001
|
NM_000019.4(ACAT1):c.210T>G (p.Ile70Met)
|
rs1465674363
|
0.00001
|
NM_000019.4(ACAT1):c.421A>T (p.Met141Leu)
|
rs750876321
|
0.00001
|
NM_000019.4(ACAT1):c.422T>C (p.Met141Thr)
|
rs758930842
|
0.00001
|
NM_000019.4(ACAT1):c.433C>G (p.Gln145Glu)
|
rs120074148
|
0.00001
|
NM_000019.4(ACAT1):c.43C>T (p.Arg15Cys)
|
rs757688736
|
0.00001
|
NM_000019.4(ACAT1):c.5C>T (p.Ala2Val)
|
rs915506786
|
0.00001
|
NM_000019.4(ACAT1):c.902C>T (p.Ala301Val)
|
rs747860630
|
0.00001
|
NM_000019.4(ACAT1):c.914A>G (p.Asn305Ser)
|
rs562043215
|
0.00001
|
NM_000019.4(ACAT1):c.959T>C (p.Val320Ala)
|
rs1184689716
|
0.00001
|
NM_000116.5(TAFAZZIN):c.210G>C (p.Gln70His)
|
rs977521848
|
0.00001
|
NM_000116.5(TAFAZZIN):c.253C>T (p.Arg85Cys)
|
rs376769286
|
0.00001
|
NM_000116.5(TAFAZZIN):c.403A>G (p.Lys135Glu)
|
rs1557192022
|
0.00001
|
NM_000116.5(TAFAZZIN):c.419C>T (p.Thr140Ile)
|
rs727503454
|
0.00001
|
NM_000116.5(TAFAZZIN):c.430A>G (p.Met144Val)
|
rs2068413364
|
0.00001
|
NM_000116.5(TAFAZZIN):c.460+1G>A
|
rs878853655
|
0.00001
|
NM_000116.5(TAFAZZIN):c.460+5G>A
|
rs1325571965
|
0.00001
|
NM_000116.5(TAFAZZIN):c.535C>G (p.Pro179Ala)
|
rs397515744
|
0.00001
|
NM_000116.5(TAFAZZIN):c.576C>G (p.Phe192Leu)
|
rs1557193924
|
0.00001
|
NM_000116.5(TAFAZZIN):c.593G>A (p.Arg198His)
|
rs371236390
|
0.00001
|
NM_000116.5(TAFAZZIN):c.689G>A (p.Arg230His)
|
rs782655300
|
0.00001
|
NM_000116.5(TAFAZZIN):c.850C>T (p.Leu284Phe)
|
rs782523340
|
0.00001
|
NM_000191.3(HMGCL):c.347C>T (p.Ala116Val)
|
rs368145582
|
0.00001
|
NM_000191.3(HMGCL):c.502G>A (p.Val168Ile)
|
rs759288306
|
0.00001
|
NM_000191.3(HMGCL):c.532G>A (p.Gly178Arg)
|
rs747529727
|
0.00001
|
NM_000191.3(HMGCL):c.593A>G (p.Tyr198Cys)
|
rs1303119110
|
0.00001
|
NM_000191.3(HMGCL):c.704A>G (p.His235Arg)
|
rs990313450
|
0.00001
|
NM_000191.3(HMGCL):c.766G>A (p.Val256Met)
|
rs764238653
|
0.00001
|
NM_000191.3(HMGCL):c.800C>G (p.Pro267Arg)
|
rs750347526
|
0.00001
|
NM_000191.3(HMGCL):c.820G>A (p.Gly274Arg)
|
rs1391067821
|
0.00001
|
NM_000282.4(PCCA):c.1112A>G (p.Gln371Arg)
|
rs752995083
|
0.00001
|
NM_000282.4(PCCA):c.1123C>T (p.Arg375Cys)
|
rs758588772
|
0.00001
|
NM_000282.4(PCCA):c.1124G>A (p.Arg375His)
|
rs778042583
|
0.00001
|
NM_000282.4(PCCA):c.1217A>G (p.Tyr406Cys)
|
rs981962098
|
0.00001
|
NM_000282.4(PCCA):c.1291G>A (p.Val431Met)
|
rs1464775522
|
0.00001
|
NM_000282.4(PCCA):c.1445T>C (p.Ile482Thr)
|
rs1349455848
|
0.00001
|
NM_000282.4(PCCA):c.1540+5G>C
|
rs371430625
|
0.00001
|
NM_000282.4(PCCA):c.155G>A (p.Gly52Asp)
|
rs755553674
|
0.00001
|
NM_000282.4(PCCA):c.1615A>G (p.Arg539Gly)
|
rs2071094349
|
0.00001
|
NM_000282.4(PCCA):c.1647G>A (p.Met549Ile)
|
rs759831592
|
0.00001
|
NM_000282.4(PCCA):c.1702A>G (p.Lys568Glu)
|
rs755890592
|
0.00001
|
NM_000282.4(PCCA):c.1756G>T (p.Asp586Tyr)
|
rs2079091190
|
0.00001
|
NM_000282.4(PCCA):c.177T>A (p.Asn59Lys)
|
rs778065877
|
0.00001
|
NM_000282.4(PCCA):c.1801C>T (p.Pro601Ser)
|
rs752459931
|
0.00001
|
NM_000282.4(PCCA):c.1808T>C (p.Leu603Ser)
|
rs1427313509
|
0.00001
|
NM_000282.4(PCCA):c.1828A>T (p.Thr610Ser)
|
rs749767976
|
0.00001
|
NM_000282.4(PCCA):c.1879A>G (p.Ile627Val)
|
rs1163083290
|
0.00001
|
NM_000282.4(PCCA):c.1886T>G (p.Phe629Cys)
|
rs1400179119
|
0.00001
|
NM_000282.4(PCCA):c.1891G>A (p.Gly631Ser)
|
rs796052018
|
0.00001
|
NM_000282.4(PCCA):c.1894A>G (p.Thr632Ala)
|
rs376313696
|
0.00001
|
NM_000282.4(PCCA):c.1910A>G (p.Asn637Ser)
|
rs149772960
|
0.00001
|
NM_000282.4(PCCA):c.1968G>T (p.Glu656Asp)
|
rs891469566
|
0.00001
|
NM_000282.4(PCCA):c.1976G>A (p.Ser659Asn)
|
rs764651081
|
0.00001
|
NM_000282.4(PCCA):c.202G>A (p.Val68Ile)
|
rs768750176
|
0.00001
|
NM_000282.4(PCCA):c.2038G>A (p.Ala680Thr)
|
rs201570489
|
0.00001
|
NM_000282.4(PCCA):c.223G>C (p.Ala75Pro)
|
rs794727479
|
0.00001
|
NM_000282.4(PCCA):c.297T>G (p.Ser99Arg)
|
rs1203679401
|
0.00001
|
NM_000282.4(PCCA):c.2dup (p.Met1fs)
|
rs1179536678
|
0.00001
|
NM_000282.4(PCCA):c.376G>A (p.Ala126Thr)
|
rs1482878054
|
0.00001
|
NM_000282.4(PCCA):c.469G>T (p.Ala157Ser)
|
rs772068496
|
0.00001
|
NM_000282.4(PCCA):c.472G>T (p.Ala158Ser)
|
rs773032396
|
0.00001
|
NM_000282.4(PCCA):c.62C>T (p.Pro21Leu)
|
rs1367928921
|
0.00001
|
NM_000282.4(PCCA):c.681A>C (p.Lys227Asn)
|
rs749118295
|
0.00001
|
NM_000282.4(PCCA):c.68A>C (p.Gln23Pro)
|
rs1566436392
|
0.00001
|
NM_000282.4(PCCA):c.704A>G (p.Asp235Gly)
|
rs760244758
|
0.00001
|
NM_000282.4(PCCA):c.709G>A (p.Glu237Lys)
|
rs770371734
|
0.00001
|
NM_000282.4(PCCA):c.778A>C (p.Ile260Leu)
|
rs769286299
|
0.00001
|
NM_000282.4(PCCA):c.914+3A>G
|
rs749376990
|
0.00001
|
NM_000282.4(PCCA):c.970G>T (p.Ala324Ser)
|
rs749617899
|
0.00001
|
NM_000532.5(PCCB):c.1022T>C (p.Ile341Thr)
|
rs757258397
|
0.00001
|
NM_000532.5(PCCB):c.1043A>G (p.Asn348Ser)
|
rs747309318
|
0.00001
|
NM_000532.5(PCCB):c.1140C>G (p.Phe380Leu)
|
rs1277882976
|
0.00001
|
NM_000532.5(PCCB):c.1145A>G (p.Asp382Gly)
|
rs201138170
|
0.00001
|
NM_000532.5(PCCB):c.116T>C (p.Ile39Thr)
|
rs182412270
|
0.00001
|
NM_000532.5(PCCB):c.128G>A (p.Arg43His)
|
rs1941481863
|
0.00001
|
NM_000532.5(PCCB):c.1299G>C (p.Lys433Asn)
|
rs774942448
|
0.00001
|
NM_000532.5(PCCB):c.130C>T (p.Arg44Trp)
|
rs749210374
|
0.00001
|
NM_000532.5(PCCB):c.1370C>T (p.Thr457Ile)
|
rs1301343613
|
0.00001
|
NM_000532.5(PCCB):c.1378A>G (p.Ile460Val)
|
rs376998134
|
0.00001
|
NM_000532.5(PCCB):c.139C>G (p.Leu47Val)
|
rs199935380
|
0.00001
|
NM_000532.5(PCCB):c.143T>G (p.Leu48Arg)
|
rs1368586445
|
0.00001
|
NM_000532.5(PCCB):c.1444G>T (p.Ala482Ser)
|
rs752000929
|
0.00001
|
NM_000532.5(PCCB):c.1456T>C (p.Tyr486His)
|
rs143190442
|
0.00001
|
NM_000532.5(PCCB):c.1481T>C (p.Phe494Ser)
|
rs1935428949
|
0.00001
|
NM_000532.5(PCCB):c.1502T>C (p.Phe501Ser)
|
rs1483082276
|
0.00001
|
NM_000532.5(PCCB):c.1504G>A (p.Val502Met)
|
rs763024986
|
0.00001
|
NM_000532.5(PCCB):c.182G>A (p.Arg61Gln)
|
rs909550005
|
0.00001
|
NM_000532.5(PCCB):c.183+12_183+31dup
|
rs745694339
|
0.00001
|
NM_000532.5(PCCB):c.305T>G (p.Phe102Cys)
|
rs1248879007
|
0.00001
|
NM_000532.5(PCCB):c.31G>C (p.Gly11Arg)
|
rs757860152
|
0.00001
|
NM_000532.5(PCCB):c.38G>A (p.Arg13Lys)
|
rs1941477030
|
0.00001
|
NM_000532.5(PCCB):c.460C>T (p.Pro154Ser)
|
rs1468203736
|
0.00001
|
NM_000532.5(PCCB):c.46G>T (p.Val16Phe)
|
rs780842004
|
0.00001
|
NM_000532.5(PCCB):c.580T>G (p.Ser194Ala)
|
rs1237531952
|
0.00001
|
NM_000532.5(PCCB):c.583C>G (p.Leu195Val)
|
rs747267484
|
0.00001
|
NM_000532.5(PCCB):c.646A>G (p.Met216Val)
|
rs747252352
|
0.00001
|
NM_000532.5(PCCB):c.67G>A (p.Ala23Thr)
|
rs772483250
|
0.00001
|
NM_000532.5(PCCB):c.719C>T (p.Thr240Ile)
|
rs762986402
|
0.00001
|
NM_000532.5(PCCB):c.743A>G (p.Lys248Arg)
|
rs1365706286
|
0.00001
|
NM_000532.5(PCCB):c.746C>T (p.Thr249Ile)
|
rs779581071
|
0.00001
|
NM_000532.5(PCCB):c.758T>C (p.Met253Thr)
|
rs747881252
|
0.00001
|
NM_000532.5(PCCB):c.788A>G (p.Asn263Ser)
|
rs749071200
|
0.00001
|
NM_000532.5(PCCB):c.814C>T (p.Arg272Trp)
|
rs375999824
|
0.00001
|
NM_000532.5(PCCB):c.86G>T (p.Cys29Phe)
|
rs765843410
|
0.00001
|
NM_000532.5(PCCB):c.876C>G (p.His292Gln)
|
rs776893713
|
0.00001
|
NM_000532.5(PCCB):c.907G>C (p.Asp303His)
|
rs943266027
|
0.00001
|
NM_000532.5(PCCB):c.920C>T (p.Pro307Leu)
|
rs1370289032
|
0.00001
|
NM_000532.5(PCCB):c.943A>G (p.Asn315Asp)
|
rs1456890228
|
0.00001
|
NM_000532.5(PCCB):c.944A>G (p.Asn315Ser)
|
rs558836100
|
0.00001
|
NM_000532.5(PCCB):c.966T>C (p.Ser322=)
|
rs1269805994
|
0.00001
|
NM_000532.5(PCCB):c.967-3C>T
|
rs1186569803
|
0.00001
|
NM_000532.5(PCCB):c.979C>T (p.Arg327Cys)
|
rs377660729
|
0.00001
|
NM_001243279.3(ACSF3):c.1004T>A (p.Leu335Gln)
|
rs1358680743
|
0.00001
|
NM_001243279.3(ACSF3):c.1087G>A (p.Ala363Thr)
|
rs1184733927
|
0.00001
|
NM_001243279.3(ACSF3):c.1343C>G (p.Thr448Ser)
|
rs554194567
|
0.00001
|
NM_001243279.3(ACSF3):c.1412G>A (p.Arg471Gln)
|
rs387907119
|
0.00001
|
NM_001243279.3(ACSF3):c.1495A>C (p.Ile499Leu)
|
rs1272786593
|
0.00001
|
NM_001243279.3(ACSF3):c.179T>G (p.Val60Gly)
|
rs780402535
|
0.00001
|
NM_001243279.3(ACSF3):c.221G>A (p.Arg74His)
|
rs750707295
|
0.00001
|
NM_001243279.3(ACSF3):c.365C>T (p.Ala122Val)
|
rs1441479986
|
0.00001
|
NM_001243279.3(ACSF3):c.431C>T (p.Ser144Phe)
|
rs774006659
|
0.00001
|
NM_001243279.3(ACSF3):c.589G>A (p.Ala197Thr)
|
rs761573352
|
0.00001
|
NM_001243279.3(ACSF3):c.788C>G (p.Thr263Ser)
|
rs1975498120
|
0.00001
|
NM_001258392.3(CLPB):c.1003G>A (p.Glu335Lys)
|
rs765777645
|
0.00001
|
NM_001258392.3(CLPB):c.1123-3C>T
|
rs764474532
|
0.00001
|
NM_001258392.3(CLPB):c.1143G>A (p.Met381Ile)
|
rs786205137
|
0.00001
|
NM_001258392.3(CLPB):c.1167+6T>C
|
rs748976093
|
0.00001
|
NM_001258392.3(CLPB):c.1197C>T (p.Gly399=)
|
rs1363666590
|
0.00001
|
NM_001258392.3(CLPB):c.1228A>G (p.Thr410Ala)
|
rs1258428897
|
0.00001
|
NM_001258392.3(CLPB):c.130G>A (p.Glu44Lys)
|
rs536485763
|
0.00001
|
NM_001258392.3(CLPB):c.1361T>C (p.Ile454Thr)
|
rs770073084
|
0.00001
|
NM_001258392.3(CLPB):c.1375G>A (p.Ala459Thr)
|
rs372344202
|
0.00001
|
NM_001258392.3(CLPB):c.1408G>A (p.Asp470Asn)
|
rs778269139
|
0.00001
|
NM_001258392.3(CLPB):c.1411G>A (p.Glu471Lys)
|
rs748915609
|
0.00001
|
NM_001258392.3(CLPB):c.1468C>T (p.Arg490Cys)
|
rs773040549
|
0.00001
|
NM_001258392.3(CLPB):c.1469G>A (p.Arg490His)
|
rs568455218
|
0.00001
|
NM_001258392.3(CLPB):c.1477G>A (p.Glu493Lys)
|
rs376835047
|
0.00001
|
NM_001258392.3(CLPB):c.1489G>T (p.Asp497Tyr)
|
rs918777173
|
0.00001
|
NM_001258392.3(CLPB):c.1606G>A (p.Val536Ile)
|
rs776356646
|
0.00001
|
NM_001258392.3(CLPB):c.1631C>T (p.Ser544Leu)
|
rs1430716011
|
0.00001
|
NM_001258392.3(CLPB):c.1672G>A (p.Ala558Thr)
|
rs780169796
|
0.00001
|
NM_001258392.3(CLPB):c.1717C>T (p.Arg573Cys)
|
rs186989806
|
0.00001
|
NM_001258392.3(CLPB):c.1744G>A (p.Gly582Ser)
|
rs747198658
|
0.00001
|
NM_001258392.3(CLPB):c.1765G>A (p.Ala589Thr)
|
rs1949500581
|
0.00001
|
NM_001258392.3(CLPB):c.1777A>C (p.Lys593Gln)
|
rs779976853
|
0.00001
|
NM_001258392.3(CLPB):c.1780C>T (p.His594Tyr)
|
rs1442380307
|
0.00001
|
NM_001258392.3(CLPB):c.1844G>T (p.Gly615Val)
|
rs1247332355
|
0.00001
|
NM_001258392.3(CLPB):c.1937C>G (p.Pro646Arg)
|
rs201668123
|
0.00001
|
NM_001258392.3(CLPB):c.1969A>T (p.Ser657Cys)
|
rs1254521420
|
0.00001
|
NM_001258392.3(CLPB):c.229C>A (p.Arg77Ser)
|
rs567785578
|
0.00001
|
NM_001258392.3(CLPB):c.247C>T (p.Leu83Phe)
|
rs1590947700
|
0.00001
|
NM_001258392.3(CLPB):c.254C>T (p.Ala85Val)
|
rs751423546
|
0.00001
|
NM_001258392.3(CLPB):c.259A>T (p.Thr87Ser)
|
rs960976552
|
0.00001
|
NM_001258392.3(CLPB):c.269G>A (p.Arg90His)
|
rs762324677
|
0.00001
|
NM_001258392.3(CLPB):c.2T>C (p.Met1Thr)
|
rs369149141
|
0.00001
|
NM_001258392.3(CLPB):c.312G>C (p.Trp104Cys)
|
rs747589481
|
0.00001
|
NM_001258392.3(CLPB):c.356C>G (p.Ala119Gly)
|
rs1191592329
|
0.00001
|
NM_001258392.3(CLPB):c.359C>G (p.Ala120Gly)
|
rs1565107812
|
0.00001
|
NM_001258392.3(CLPB):c.367G>C (p.Val123Leu)
|
rs141495575
|
0.00001
|
NM_001258392.3(CLPB):c.38C>T (p.Ala13Val)
|
rs750927442
|
0.00001
|
NM_001258392.3(CLPB):c.409G>T (p.Ala137Ser)
|
rs1323542690
|
0.00001
|
NM_001258392.3(CLPB):c.456-3T>A
|
rs751918724
|
0.00001
|
NM_001258392.3(CLPB):c.638C>G (p.Ser213Cys)
|
rs767714428
|
0.00001
|
NM_001258392.3(CLPB):c.751A>G (p.Thr251Ala)
|
rs754211386
|
0.00001
|
NM_001258392.3(CLPB):c.757A>G (p.Lys253Glu)
|
rs766759416
|
0.00001
|
NM_001258392.3(CLPB):c.758A>G (p.Lys253Arg)
|
rs761122843
|
0.00001
|
NM_001258392.3(CLPB):c.776G>A (p.Gly259Glu)
|
rs543347319
|
0.00001
|
NM_001258392.3(CLPB):c.910C>T (p.Arg304Trp)
|
rs747344641
|
0.00001
|
NM_001258392.3(CLPB):c.916C>T (p.Arg306Cys)
|
rs1199370784
|
0.00001
|
NM_001258392.3(CLPB):c.935G>A (p.Arg312Gln)
|
rs751427024
|
0.00001
|
NM_001258392.3(CLPB):c.967G>A (p.Ala323Thr)
|
rs759050719
|
0.00001
|
NM_001352514.2(HLCS):c.1369G>A (p.Glu457Lys)
|
rs763927037
|
0.00001
|
NM_001352514.2(HLCS):c.1918A>G (p.Met640Val)
|
rs772156741
|
0.00001
|
NM_001352514.2(HLCS):c.1943G>A (p.Arg648Gln)
|
rs886057076
|
0.00001
|
NM_001352514.2(HLCS):c.1951G>A (p.Glu651Lys)
|
rs1035549573
|
0.00001
|
NM_001352514.2(HLCS):c.2076G>A (p.Met692Ile)
|
rs1460453809
|
0.00001
|
NM_001352514.2(HLCS):c.2135G>A (p.Arg712Gln)
|
rs769446135
|
0.00001
|
NM_001352514.2(HLCS):c.2266C>T (p.Pro756Ser)
|
rs1285498636
|
0.00001
|
NM_001352514.2(HLCS):c.2313C>G (p.His771Gln)
|
rs1376040224
|
0.00001
|
NM_001352514.2(HLCS):c.2339C>T (p.Ala780Val)
|
rs763760775
|
0.00001
|
NM_001352514.2(HLCS):c.2371C>G (p.Leu791Val)
|
rs748447457
|
0.00001
|
NM_001352514.2(HLCS):c.2485C>A (p.Pro829Thr)
|
rs1417729542
|
0.00001
|
NM_001352514.2(HLCS):c.2567C>T (p.Pro856Leu)
|
rs1260631800
|
0.00001
|
NM_001352514.2(HLCS):c.2585A>C (p.Asp862Ala)
|
rs752737867
|
0.00001
|
NM_001352514.2(HLCS):c.494-8T>A
|
rs778287214
|
0.00001
|
NM_001352514.2(HLCS):c.529A>G (p.Lys177Glu)
|
rs759396333
|
0.00001
|
NM_001352514.2(HLCS):c.790A>G (p.Ile264Val)
|
rs1342427477
|
0.00001
|
NM_001352514.2(HLCS):c.970G>A (p.Gly324Ser)
|
rs574778377
|
0.00001
|
NM_001370658.1(BTD):c.-59T>A
|
rs768258310
|
0.00001
|
NM_001370658.1(BTD):c.1013A>G (p.His338Arg)
|
rs1379845261
|
0.00001
|
NM_001370658.1(BTD):c.1043A>C (p.Asp348Ala)
|
rs886058115
|
0.00001
|
NM_001370658.1(BTD):c.1051T>C (p.Cys351Arg)
|
rs775369290
|
0.00001
|
NM_001370658.1(BTD):c.1144A>G (p.Asn382Asp)
|
rs147188293
|
0.00001
|
NM_001370658.1(BTD):c.1151C>T (p.Thr384Ile)
|
rs397514405
|
0.00001
|
NM_001370658.1(BTD):c.1159C>T (p.Pro387Ser)
|
rs777799585
|
0.00001
|
NM_001370658.1(BTD):c.1189G>A (p.Val397Ile)
|
rs397514409
|
0.00001
|
NM_001370658.1(BTD):c.1292G>A (p.Gly431Asp)
|
rs397514419
|
0.00001
|
NM_001370658.1(BTD):c.1334G>T (p.Gly445Val)
|
rs1223614917
|
0.00001
|
NM_001370658.1(BTD):c.1379G>A (p.Gly460Glu)
|
rs558477960
|
0.00001
|
NM_001370658.1(BTD):c.1473G>C (p.Gln491His)
|
rs764375610
|
0.00001
|
NM_001370658.1(BTD):c.455A>G (p.Asn152Ser)
|
rs397514366
|
0.00001
|
NM_001370658.1(BTD):c.481A>G (p.Ser161Gly)
|
rs541012569
|
0.00001
|
NM_001370658.1(BTD):c.545A>G (p.Asn182Ser)
|
rs397514376
|
0.00001
|
NM_001370658.1(BTD):c.591T>G (p.Phe197Leu)
|
rs767750851
|
0.00001
|
NM_001370658.1(BTD):c.912C>G (p.Asp304Glu)
|
rs1449860088
|
0.00001
|
NM_001370658.1(BTD):c.917A>G (p.Glu306Gly)
|
rs747059644
|
0.00001
|
NM_001370658.1(BTD):c.944C>T (p.Ala315Val)
|
rs1465883743
|
0.00001
|
NM_001609.4(ACADSB):c.1060G>A (p.Ala354Thr)
|
rs200548567
|
0.00001
|
NM_001609.4(ACADSB):c.1138C>G (p.Gln380Glu)
|
rs748042148
|
0.00001
|
NM_001609.4(ACADSB):c.1154G>A (p.Cys385Tyr)
|
rs1370215763
|
0.00001
|
NM_001609.4(ACADSB):c.1156A>G (p.Ile386Val)
|
rs770827167
|
0.00001
|
NM_001609.4(ACADSB):c.1168G>A (p.Gly390Arg)
|
rs764095189
|
0.00001
|
NM_001609.4(ACADSB):c.1271T>C (p.Ile424Thr)
|
rs748926593
|
0.00001
|
NM_001609.4(ACADSB):c.154G>A (p.Ala52Thr)
|
rs1164586012
|
0.00001
|
NM_001609.4(ACADSB):c.265A>G (p.Met89Val)
|
rs372537859
|
0.00001
|
NM_001609.4(ACADSB):c.680T>C (p.Ile227Thr)
|
rs755158007
|
0.00001
|
NM_001609.4(ACADSB):c.796G>A (p.Glu266Lys)
|
rs1266747835
|
0.00001
|
NM_001698.3(AUH):c.1003C>T (p.Arg335Cys)
|
rs772918339
|
0.00001
|
NM_001698.3(AUH):c.25C>G (p.Pro9Ala)
|
rs1461159226
|
0.00001
|
NM_001698.3(AUH):c.305C>T (p.Ser102Leu)
|
rs368115216
|
0.00001
|
NM_001698.3(AUH):c.323T>C (p.Ile108Thr)
|
rs531669666
|
0.00001
|
NM_001698.3(AUH):c.476C>G (p.Ser159Cys)
|
rs1282582845
|
0.00001
|
NM_001698.3(AUH):c.547G>A (p.Ala183Thr)
|
rs548411527
|
0.00001
|
NM_001698.3(AUH):c.56G>T (p.Gly19Val)
|
rs1832891431
|
0.00001
|
NM_001698.3(AUH):c.655+3A>C
|
rs755914350
|
0.00001
|
NM_001698.3(AUH):c.769G>A (p.Val257Ile)
|
rs749920943
|
0.00001
|
NM_001698.3(AUH):c.797C>T (p.Ala266Val)
|
rs570875104
|
0.00001
|
NM_001698.3(AUH):c.860G>C (p.Arg287Thr)
|
rs1826877739
|
0.00001
|
NM_001698.3(AUH):c.898G>A (p.Asp300Asn)
|
rs746215620
|
0.00001
|
NM_002225.5(IVD):c.1009C>T (p.Arg337Trp)
|
rs776608445
|
0.00001
|
NM_002225.5(IVD):c.1010G>A (p.Arg337Gln)
|
rs139908696
|
0.00001
|
NM_002225.5(IVD):c.1160A>G (p.Asp387Gly)
|
rs1163816425
|
0.00001
|
NM_002225.5(IVD):c.124C>G (p.Leu42Val)
|
rs777674887
|
0.00001
|
NM_002225.5(IVD):c.227A>G (p.Asn76Ser)
|
rs1398705262
|
0.00001
|
NM_002225.5(IVD):c.263G>A (p.Gly88Asp)
|
rs779579351
|
0.00001
|
NM_002225.5(IVD):c.307C>G (p.Leu103Val)
|
rs1465206137
|
0.00001
|
NM_002225.5(IVD):c.436A>G (p.Lys146Glu)
|
rs1448656950
|
0.00001
|
NM_002225.5(IVD):c.456G>A (p.Lys152=)
|
rs886044117
|
0.00001
|
NM_002225.5(IVD):c.464G>A (p.Ser155Asn)
|
rs140182461
|
0.00001
|
NM_002225.5(IVD):c.710C>T (p.Ser237Phe)
|
rs1891244554
|
0.00001
|
NM_002225.5(IVD):c.726G>C (p.Lys242Asn)
|
rs794727857
|
0.00001
|
NM_002225.5(IVD):c.796C>G (p.Leu266Val)
|
rs766980574
|
0.00001
|
NM_002225.5(IVD):c.994C>T (p.Arg332Cys)
|
rs1891643589
|
0.00001
|
NM_005050.4(ABCD4):c.1019A>G (p.Tyr340Cys)
|
rs1446995315
|
0.00001
|
NM_005050.4(ABCD4):c.1095C>T (p.Gly365=)
|
rs546298874
|
0.00001
|
NM_005050.4(ABCD4):c.1337A>G (p.Gln446Arg)
|
rs759539743
|
0.00001
|
NM_005050.4(ABCD4):c.1402G>A (p.Gly468Arg)
|
rs1360319567
|
0.00001
|
NM_005050.4(ABCD4):c.1578G>A (p.Pro526=)
|
rs555792734
|
0.00001
|
NM_005050.4(ABCD4):c.1609C>A (p.Leu537Ile)
|
rs780846855
|
0.00001
|
NM_005050.4(ABCD4):c.166G>A (p.Val56Met)
|
rs2083804334
|
0.00001
|
NM_005050.4(ABCD4):c.1752+2T>C
|
rs151116417
|
0.00001
|
NM_005050.4(ABCD4):c.1753-18G>A
|
rs772567988
|
0.00001
|
NM_005050.4(ABCD4):c.352C>T (p.His118Tyr)
|
rs371774856
|
0.00001
|
NM_005050.4(ABCD4):c.388T>C (p.Tyr130His)
|
rs1349388678
|
0.00001
|
NM_005050.4(ABCD4):c.463C>T (p.Arg155Trp)
|
rs373322009
|
0.00001
|
NM_005050.4(ABCD4):c.556G>A (p.Gly186Arg)
|
rs1410990711
|
0.00001
|
NM_005050.4(ABCD4):c.644A>G (p.Gln215Arg)
|
rs1280841182
|
0.00001
|
NM_005050.4(ABCD4):c.727C>T (p.His243Tyr)
|
rs761053363
|
0.00001
|
NM_005334.3(HCFC1):c.1222A>G (p.Thr408Ala)
|
rs781937365
|
0.00001
|
NM_005334.3(HCFC1):c.3385G>A (p.Ala1129Thr)
|
rs782235304
|
0.00001
|
NM_005334.3(HCFC1):c.3409C>T (p.Arg1137Trp)
|
rs1043389387
|
0.00001
|
NM_005334.3(HCFC1):c.3791G>C (p.Gly1264Ala)
|
rs1557113936
|
0.00001
|
NM_005334.3(HCFC1):c.4109C>T (p.Ser1370Leu)
|
rs1557113656
|
0.00001
|
NM_005334.3(HCFC1):c.4242G>C (p.Gln1414His)
|
rs1004412459
|
0.00001
|
NM_005334.3(HCFC1):c.4334A>G (p.Asp1445Gly)
|
rs782122807
|
0.00001
|
NM_005334.3(HCFC1):c.4789G>A (p.Ala1597Thr)
|
rs1557112927
|
0.00001
|
NM_005334.3(HCFC1):c.4790C>T (p.Ala1597Val)
|
rs372010656
|
0.00001
|
NM_005334.3(HCFC1):c.503+6G>A
|
rs1048267564
|
0.00001
|
NM_005334.3(HCFC1):c.5300T>G (p.Val1767Gly)
|
rs1360396448
|
0.00001
|
NM_005334.3(HCFC1):c.5420A>G (p.Lys1807Arg)
|
rs1557112412
|
0.00001
|
NM_014362.4(HIBCH):c.1103C>T (p.Thr368Ile)
|
rs142607404
|
0.00001
|
NM_014362.4(HIBCH):c.145A>G (p.Ile49Val)
|
rs1370340054
|
0.00001
|
NM_014362.4(HIBCH):c.196C>T (p.Arg66Trp)
|
rs757976755
|
0.00001
|
NM_014384.3(ACAD8):c.233T>C (p.Met78Thr)
|
rs767613745
|
0.00001
|
NM_014384.3(ACAD8):c.250C>G (p.Leu84Val)
|
rs1330918776
|
0.00001
|
NM_014384.3(ACAD8):c.292T>C (p.Ser98Pro)
|
rs773978651
|
0.00001
|
NM_014384.3(ACAD8):c.308T>G (p.Leu103Arg)
|
rs763906092
|
0.00001
|
NM_014384.3(ACAD8):c.326T>C (p.Phe109Ser)
|
rs1939586683
|
0.00001
|
NM_014384.3(ACAD8):c.337G>A (p.Ala113Thr)
|
rs751633406
|
0.00001
|
NM_014384.3(ACAD8):c.527C>G (p.Ala176Gly)
|
rs1288285713
|
0.00001
|
NM_014384.3(ACAD8):c.538G>C (p.Gly180Arg)
|
rs367999938
|
0.00001
|
NM_014384.3(ACAD8):c.611T>C (p.Met204Thr)
|
rs1939759468
|
0.00001
|
NM_014384.3(ACAD8):c.643A>G (p.Ile215Val)
|
rs151125742
|
0.00001
|
NM_014384.3(ACAD8):c.670A>G (p.Thr224Ala)
|
rs748422726
|
0.00001
|
NM_014384.3(ACAD8):c.806C>T (p.Ala269Val)
|
rs142790411
|
0.00001
|
NM_014384.3(ACAD8):c.85C>T (p.Arg29Trp)
|
rs1278727402
|
0.00001
|
NM_014384.3(ACAD8):c.948A>G (p.Gln316=)
|
rs148005336
|
0.00001
|
NM_014384.3(ACAD8):c.964A>G (p.Met322Val)
|
rs1167657404
|
0.00001
|
NM_015506.3(MMACHC):c.14T>A (p.Val5Asp)
|
rs780981680
|
0.00001
|
NM_015506.3(MMACHC):c.222G>C (p.Met74Ile)
|
rs772225967
|
0.00001
|
NM_015506.3(MMACHC):c.334C>T (p.Arg112Cys)
|
rs187869948
|
0.00001
|
NM_015506.3(MMACHC):c.38A>C (p.Glu13Ala)
|
rs1010232462
|
0.00001
|
NM_015506.3(MMACHC):c.406G>A (p.Glu136Lys)
|
rs374086070
|
0.00001
|
NM_015506.3(MMACHC):c.434T>C (p.Ile145Thr)
|
rs759921519
|
0.00001
|
NM_015506.3(MMACHC):c.446G>A (p.Cys149Tyr)
|
rs1161394470
|
0.00001
|
NM_015506.3(MMACHC):c.548T>C (p.Val183Ala)
|
rs780926592
|
0.00001
|
NM_015702.3(MMADHC):c.127C>T (p.His43Tyr)
|
rs775175927
|
0.00001
|
NM_015702.3(MMADHC):c.152T>C (p.Ile51Thr)
|
rs755472574
|
0.00001
|
NM_015702.3(MMADHC):c.155-3C>T
|
rs773403678
|
0.00001
|
NM_015702.3(MMADHC):c.41A>G (p.Tyr14Cys)
|
rs756550492
|
0.00001
|
NM_015702.3(MMADHC):c.434G>C (p.Arg145Thr)
|
rs780889876
|
0.00001
|
NM_015702.3(MMADHC):c.742C>T (p.Arg248Cys)
|
rs544727246
|
0.00001
|
NM_015702.3(MMADHC):c.80A>G (p.Asn27Ser)
|
rs766017009
|
0.00001
|
NM_018368.4(LMBRD1):c.1157G>A (p.Arg386Gln)
|
rs772350306
|
0.00001
|
NM_018368.4(LMBRD1):c.115C>T (p.Arg39Trp)
|
rs748879055
|
0.00001
|
NM_018368.4(LMBRD1):c.1214C>G (p.Thr405Ser)
|
rs561265847
|
0.00001
|
NM_018368.4(LMBRD1):c.1217G>A (p.Arg406Lys)
|
rs1364347331
|
0.00001
|
NM_018368.4(LMBRD1):c.1347A>G (p.Ile449Met)
|
rs771561971
|
0.00001
|
NM_018368.4(LMBRD1):c.1382C>G (p.Ser461Cys)
|
rs781535724
|
0.00001
|
NM_018368.4(LMBRD1):c.1613A>G (p.Tyr538Cys)
|
rs982934588
|
0.00001
|
NM_018368.4(LMBRD1):c.166A>G (p.Ile56Val)
|
rs765308443
|
0.00001
|
NM_018368.4(LMBRD1):c.596C>T (p.Ser199Phe)
|
rs1562105981
|
0.00001
|
NM_018368.4(LMBRD1):c.649T>C (p.Ser217Pro)
|
rs1766557026
|
0.00001
|
NM_018368.4(LMBRD1):c.7A>G (p.Thr3Ala)
|
rs1297619412
|
0.00001
|
NM_020166.5(MCCC1):c.1048A>G (p.Ile350Val)
|
rs965802215
|
0.00001
|
NM_020166.5(MCCC1):c.1127C>T (p.Thr376Ile)
|
rs1714102747
|
0.00001
|
NM_020166.5(MCCC1):c.1147G>A (p.Glu383Lys)
|
rs1333357031
|
0.00001
|
NM_020166.5(MCCC1):c.1222C>T (p.Pro408Ser)
|
rs1560224165
|
0.00001
|
NM_020166.5(MCCC1):c.1259T>C (p.Val420Ala)
|
rs946293038
|
0.00001
|
NM_020166.5(MCCC1):c.1268-7A>G
|
rs1417892958
|
0.00001
|
NM_020166.5(MCCC1):c.134C>T (p.Thr45Ile)
|
rs1410294013
|
0.00001
|
NM_020166.5(MCCC1):c.135A>T (p.Thr45=)
|
rs1286585591
|
0.00001
|
NM_020166.5(MCCC1):c.1366C>T (p.Arg456Cys)
|
rs369847846
|
0.00001
|
NM_020166.5(MCCC1):c.1594+6G>C
|
rs777825199
|
0.00001
|
NM_020166.5(MCCC1):c.1632A>C (p.Arg544Ser)
|
rs1553853001
|
0.00001
|
NM_020166.5(MCCC1):c.1682-3A>G
|
rs760180709
|
0.00001
|
NM_020166.5(MCCC1):c.1682A>G (p.Asn561Ser)
|
rs112307657
|
0.00001
|
NM_020166.5(MCCC1):c.1703A>G (p.Tyr568Cys)
|
rs1577245387
|
0.00001
|
NM_020166.5(MCCC1):c.1730A>G (p.Gln577Arg)
|
rs749473644
|
0.00001
|
NM_020166.5(MCCC1):c.1928A>G (p.Gln643Arg)
|
rs755699519
|
0.00001
|
NM_020166.5(MCCC1):c.1994G>A (p.Gly665Glu)
|
rs903196916
|
0.00001
|
NM_020166.5(MCCC1):c.208A>G (p.Lys70Glu)
|
rs750133436
|
0.00001
|
NM_020166.5(MCCC1):c.239G>A (p.Ser80Asn)
|
rs774565207
|
0.00001
|
NM_020166.5(MCCC1):c.263A>G (p.His88Arg)
|
rs1352224093
|
0.00001
|
NM_020166.5(MCCC1):c.283G>A (p.Ala95Thr)
|
rs1453501166
|
0.00001
|
NM_020166.5(MCCC1):c.302C>T (p.Ala101Val)
|
rs772547872
|
0.00001
|
NM_020166.5(MCCC1):c.350C>T (p.Ala117Val)
|
rs754963220
|
0.00001
|
NM_020166.5(MCCC1):c.373A>G (p.Ile125Val)
|
rs780072787
|
0.00001
|
NM_020166.5(MCCC1):c.491G>A (p.Ser164Asn)
|
rs1055095015
|
0.00001
|
NM_020166.5(MCCC1):c.596G>T (p.Gly199Val)
|
rs1198116993
|
0.00001
|
NM_020166.5(MCCC1):c.619G>A (p.Val207Ile)
|
rs149268368
|
0.00001
|
NM_020166.5(MCCC1):c.635G>C (p.Gly212Ala)
|
rs749287771
|
0.00001
|
NM_020166.5(MCCC1):c.641G>A (p.Gly214Glu)
|
rs1248070890
|
0.00001
|
NM_020166.5(MCCC1):c.694C>T (p.Arg232Trp)
|
rs727504004
|
0.00001
|
NM_020166.5(MCCC1):c.711G>T (p.Lys237Asn)
|
rs1716633366
|
0.00001
|
NM_020166.5(MCCC1):c.739G>A (p.Glu247Lys)
|
rs952738286
|
0.00001
|
NM_020166.5(MCCC1):c.762G>A (p.Arg254=)
|
rs149389595
|
0.00001
|
NM_020166.5(MCCC1):c.793C>T (p.His265Tyr)
|
rs767642062
|
0.00001
|
NM_020166.5(MCCC1):c.83C>T (p.Pro28Leu)
|
rs1164035251
|
0.00001
|
NM_020166.5(MCCC1):c.842G>A (p.Arg281Gln)
|
rs754437245
|
0.00001
|
NM_020166.5(MCCC1):c.877G>A (p.Gly293Ser)
|
rs974953181
|
0.00001
|
NM_022132.5(MCCC2):c.1043A>G (p.Lys348Arg)
|
rs759809368
|
0.00001
|
NM_022132.5(MCCC2):c.1108G>A (p.Val370Ile)
|
rs760363054
|
0.00001
|
NM_022132.5(MCCC2):c.1154C>G (p.Thr385Ser)
|
rs1427630056
|
0.00001
|
NM_022132.5(MCCC2):c.1178A>C (p.Gln393Pro)
|
rs750782118
|
0.00001
|
NM_022132.5(MCCC2):c.1300G>C (p.Val434Leu)
|
rs758506791
|
0.00001
|
NM_022132.5(MCCC2):c.1313C>A (p.Thr438Asn)
|
rs779770835
|
0.00001
|
NM_022132.5(MCCC2):c.1381T>G (p.Phe461Val)
|
rs1747390697
|
0.00001
|
NM_022132.5(MCCC2):c.1388A>G (p.Tyr463Cys)
|
rs778734586
|
0.00001
|
NM_022132.5(MCCC2):c.147G>C (p.Met49Ile)
|
rs756664143
|
0.00001
|
NM_022132.5(MCCC2):c.1488G>C (p.Gln496His)
|
rs745367639
|
0.00001
|
NM_022132.5(MCCC2):c.1640C>T (p.Ala547Val)
|
rs778172446
|
0.00001
|
NM_022132.5(MCCC2):c.1688T>C (p.Met563Thr)
|
rs373922744
|
0.00001
|
NM_022132.5(MCCC2):c.302C>T (p.Ser101Phe)
|
rs748028684
|
0.00001
|
NM_022132.5(MCCC2):c.311C>T (p.Ala104Val)
|
rs771719423
|
0.00001
|
NM_022132.5(MCCC2):c.326A>G (p.Tyr109Cys)
|
rs1450884624
|
0.00001
|
NM_022132.5(MCCC2):c.436T>G (p.Tyr146Asp)
|
rs1402663229
|
0.00001
|
NM_022132.5(MCCC2):c.478G>A (p.Ala160Thr)
|
rs727504009
|
0.00001
|
NM_022132.5(MCCC2):c.484C>A (p.Gln162Lys)
|
rs944412136
|
0.00001
|
NM_022132.5(MCCC2):c.615T>G (p.Asn205Lys)
|
rs368906147
|
0.00001
|
NM_022132.5(MCCC2):c.665A>G (p.Tyr222Cys)
|
rs753735697
|
0.00001
|
NM_022132.5(MCCC2):c.815T>G (p.Val272Gly)
|
rs1199145486
|
0.00001
|
NM_022132.5(MCCC2):c.851T>C (p.Leu284Pro)
|
rs376237028
|
0.00001
|
NM_022132.5(MCCC2):c.884A>G (p.Asn295Ser)
|
rs1368817393
|
0.00001
|
NM_022132.5(MCCC2):c.904-5T>A
|
rs753258629
|
0.00001
|
NM_025136.4(OPA3):c.123C>G (p.Ile41Met)
|
rs763083098
|
0.00001
|
NM_025136.4(OPA3):c.197C>T (p.Thr66Met)
|
rs753129998
|
0.00001
|
NM_025136.4(OPA3):c.224C>T (p.Ala75Val)
|
rs769541845
|
0.00001
|
NM_025136.4(OPA3):c.305_322dup (p.Gln107_Gln108insArgArgHisGlnAlaGln)
|
rs1599964564
|
0.00001
|
NM_025136.4(OPA3):c.355T>A (p.Trp119Arg)
|
rs375471439
|
0.00001
|
NM_025136.4(OPA3):c.373G>A (p.Glu125Lys)
|
rs1346674058
|
0.00001
|
NM_025136.4(OPA3):c.404C>G (p.Ala135Gly)
|
rs372640359
|
0.00001
|
NM_025136.4(OPA3):c.487C>T (p.Leu163Phe)
|
rs780492515
|
0.00001
|
NM_025136.4(OPA3):c.499G>C (p.Gly167Arg)
|
rs1364874488
|
0.00001
|
NM_025136.4(OPA3):c.503G>A (p.Arg168Gln)
|
rs779505447
|
0.00001
|
NM_025136.4(OPA3):c.508G>A (p.Ala170Thr)
|
rs374639297
|
0.00001
|
NM_025136.4(OPA3):c.540G>C (p.Ter180Tyr)
|
rs774281852
|
0.00001
|
NM_030813.6(CLPB):c.688T>C (p.Trp230Arg)
|
rs749611577
|
0.00001
|
NM_032861.4(SERAC1):c.1169A>G (p.Gln390Arg)
|
rs779061767
|
0.00001
|
NM_032861.4(SERAC1):c.1295C>T (p.Thr432Met)
|
rs780982964
|
0.00001
|
NM_032861.4(SERAC1):c.1403+5C>G
|
rs770722498
|
0.00001
|
NM_032861.4(SERAC1):c.1501+6T>G
|
rs760987565
|
0.00001
|
NM_032861.4(SERAC1):c.1535C>T (p.Ser512Phe)
|
rs751450632
|
0.00001
|
NM_032861.4(SERAC1):c.1537A>G (p.Thr513Ala)
|
rs201367107
|
0.00001
|
NM_032861.4(SERAC1):c.1685-3C>T
|
rs367733861
|
0.00001
|
NM_032861.4(SERAC1):c.1725_1727dup (p.Glu575_Phe576insLeu)
|
rs1478893955
|
0.00001
|
NM_032861.4(SERAC1):c.1762G>A (p.Val588Met)
|
rs756012789
|
0.00001
|
NM_032861.4(SERAC1):c.1765G>A (p.Glu589Lys)
|
rs1020569740
|
0.00001
|
NM_032861.4(SERAC1):c.1915C>T (p.Arg639Cys)
|
rs575982148
|
0.00001
|
NM_032861.4(SERAC1):c.326C>T (p.Ser109Leu)
|
rs1258024323
|
0.00001
|
NM_032861.4(SERAC1):c.677G>T (p.Cys226Phe)
|
rs1243289662
|
0.00001
|
NM_032861.4(SERAC1):c.87T>G (p.Asp29Glu)
|
rs1404505029
|
0.00001
|
NM_052845.4(MMAB):c.184A>G (p.Thr62Ala)
|
rs759809454
|
0.00001
|
NM_052845.4(MMAB):c.247T>C (p.Phe83Leu)
|
rs571555515
|
0.00001
|
NM_052845.4(MMAB):c.254C>T (p.Ala85Val)
|
rs770743560
|
0.00001
|
NM_052845.4(MMAB):c.398C>T (p.Ser133Phe)
|
rs749936057
|
0.00001
|
NM_052845.4(MMAB):c.41G>A (p.Ser14Asn)
|
rs755568905
|
0.00001
|
NM_052845.4(MMAB):c.424T>C (p.Tyr142His)
|
rs886198506
|
0.00001
|
NM_052845.4(MMAB):c.584G>A (p.Arg195His)
|
rs756195708
|
0.00001
|
NM_052845.4(MMAB):c.61T>A (p.Cys21Ser)
|
rs763383858
|
0.00001
|
NM_052845.4(MMAB):c.644+6C>T
|
rs376868629
|
0.00001
|
NM_145261.4(DNAJC19):c.142G>A (p.Gly48Ser)
|
rs781284254
|
0.00001
|
NM_145261.4(DNAJC19):c.167C>A (p.Pro56His)
|
rs1714943164
|
0.00001
|
NM_145261.4(DNAJC19):c.202G>A (p.Gly68Ser)
|
rs754317673
|
0.00001
|
NM_145261.4(DNAJC19):c.295A>G (p.Ile99Val)
|
rs762783413
|
0.00001
|
NM_145261.4(DNAJC19):c.326T>C (p.Leu109Ser)
|
rs200732155
|
0.00001
|
NM_145261.4(DNAJC19):c.344A>G (p.Lys115Arg)
|
rs1253268997
|
0.00001
|
NM_172250.3(MMAA):c.1157G>A (p.Arg386Gln)
|
rs191643294
|
0.00001
|
NM_172250.3(MMAA):c.304G>A (p.Ala102Thr)
|
rs1328584680
|
0.00001
|
NM_172250.3(MMAA):c.488T>C (p.Phe163Ser)
|
rs753463116
|
0.00001
|
NM_172250.3(MMAA):c.676G>A (p.Glu226Lys)
|
rs1036460255
|
0.00001
|
NM_172250.3(MMAA):c.67T>C (p.Cys23Arg)
|
rs889048711
|
0.00001
|
NM_172250.3(MMAA):c.721A>G (p.Ile241Val)
|
rs756221585
|
0.00001
|
NM_172250.3(MMAA):c.760G>A (p.Ala254Thr)
|
rs769722136
|
0.00001
|
NM_172250.3(MMAA):c.763G>C (p.Asp255His)
|
rs1267434098
|
0.00001
|
NM_172250.3(MMAA):c.824T>C (p.Ile275Thr)
|
rs1204400776
|
0.00001
|
NM_172250.3(MMAA):c.86A>G (p.His29Arg)
|
rs367809749
|
0.00001
|
NC_000001.10:g.(?_19199339)_(24690861_?)dup
|
|
|
NC_000001.10:g.(?_45966005)_(45977106_?)dup
|
|
|
NC_000001.11:g.(?_45507336)_(45509235_?)dup
|
|
|
NC_000002.12:g.190246209_190246214del
|
rs1686603593
|
|
NC_000003.11:g.(?_135969218)_(135969420_?)dup
|
|
|
NC_000003.11:g.(?_135969218)_(136048868_?)dup
|
|
|
NC_000003.11:g.(?_15643358)_(15643421_?)dup
|
|
|
NC_000003.11:g.(?_15643358)_(15687154_?)dup
|
|
|
NC_000003.11:g.(?_182733226)_(182817228_?)dup
|
|
|
NC_000005.9:g.(?_70808992)_(70952687_?)dup
|
|
|
NC_000006.11:g.(?_49407899)_(49427199_?)dup
|
|
|
NC_000006.11:g.(?_70386050)_(70490466_?)dup
|
|
|
NC_000006.11:g.(?_70490366)_(70506773_?)dup
|
|
|
NC_000009.11:g.(?_94058283)_(94538120_?)dup
|
|
|
NC_000011.9:g.(?_107992334)_(108464263_?)dup
|
|
|
NC_000011.9:g.(?_71146421)_(75283128_?)dup
|
|
|
NC_000011.9:g.(?_72083949)_(72084078_?)del
|
|
|
NC_000011.9:g.(?_72141336)_(72145518_?)dup
|
|
|
NC_000013.10:g.(?_100038233)_(103718599_?)dup
|
|
|
NC_000013.10:g.(?_100807213)_(100809614_?)dup
|
|
|
NC_000013.10:g.(?_100861566)_(100861737_?)del
|
|
|
NC_000013.10:g.(?_101077867)_(101101579_?)dup
|
|
|
NC_000013.10:g.(?_101077867)_(101182420_?)dup
|
|
|
NC_000013.10:g.(?_101077867)_(101182440_?)dup
|
|
|
NC_000016.10:g.(?_89100662)_(89154227_?)dup
|
|
|
NC_000016.9:g.(?_89167070)_(89187341_?)dup
|
|
|
NC_000016.9:g.(?_89167090)_(89187341_?)dup
|
|
|
NC_000016.9:g.(?_89211655)_(89220615_?)dup
|
|
|
NC_000021.8:g.(?_37133458)_(38311203_?)dup
|
|
|
NC_000021.9:g.(?_36930231)_(36930453_?)dup
|
|
|
NC_000023.10:g.(?_153195397)_(153583460_?)dup
|
|
|
NC_000023.10:g.(?_153640161)_(153649363_?)dup
|
|
|
NC_000023.10:g.(?_153640181)_(153775961_?)dup
|
|
|
NC_000023.10:g.(?_153641545)_(153648084_?)dup
|
|
|
NC_000023.10:g.(?_153647862)_(153649343_?)dup
|
|
|
NM_000019.4(ACAT1):c.1018G>A (p.Val340Met)
|
|
|
NM_000019.4(ACAT1):c.1078G>A (p.Val360Ile)
|
|
|
NM_000019.4(ACAT1):c.1096A>G (p.Met366Val)
|
|
|
NM_000019.4(ACAT1):c.1105A>G (p.Ile369Val)
|
rs1591374695
|
|
NM_000019.4(ACAT1):c.1183G>C (p.Val395Leu)
|
|
|
NM_000019.4(ACAT1):c.1207A>T (p.Lys403Ter)
|
|
|
NM_000019.4(ACAT1):c.1219T>C (p.Tyr407His)
|
|
|
NM_000019.4(ACAT1):c.1240A>G (p.Asn414Asp)
|
rs2134798319
|
|
NM_000019.4(ACAT1):c.1253_1255dup (p.Gly418dup)
|
rs2077741217
|
|
NM_000019.4(ACAT1):c.1269_1270dup (p.Ile424fs)
|
|
|
NM_000019.4(ACAT1):c.133G>C (p.Val45Leu)
|
|
|
NM_000019.4(ACAT1):c.140C>T (p.Ala47Val)
|
rs545826042
|
|
NM_000019.4(ACAT1):c.14C>T (p.Ala5Val)
|
|
|
NM_000019.4(ACAT1):c.200T>G (p.Leu67Arg)
|
|
|
NM_000019.4(ACAT1):c.209T>C (p.Ile70Thr)
|
|
|
NM_000019.4(ACAT1):c.248AAG[2] (p.Glu85del)
|
rs866364527
|
|
NM_000019.4(ACAT1):c.256G>T (p.Val86Leu)
|
rs1235436246
|
|
NM_000019.4(ACAT1):c.31G>A (p.Gly11Ser)
|
|
|
NM_000019.4(ACAT1):c.326T>G (p.Leu109Trp)
|
|
|
NM_000019.4(ACAT1):c.333A>G (p.Ala111=)
|
rs2135336477
|
|
NM_000019.4(ACAT1):c.340C>T (p.Pro114Ser)
|
|
|
NM_000019.4(ACAT1):c.355T>G (p.Cys119Gly)
|
|
|
NM_000019.4(ACAT1):c.394G>C (p.Ala132Pro)
|
|
|
NM_000019.4(ACAT1):c.405G>T (p.Met135Ile)
|
|
|
NM_000019.4(ACAT1):c.418C>T (p.Leu140Phe)
|
rs2077446791
|
|
NM_000019.4(ACAT1):c.435+4A>G
|
rs1424341036
|
|
NM_000019.4(ACAT1):c.436-15G>A
|
|
|
NM_000019.4(ACAT1):c.475G>A (p.Val159Ile)
|
|
|
NM_000019.4(ACAT1):c.49C>T (p.Pro17Ser)
|
|
|
NM_000019.4(ACAT1):c.622C>G (p.Arg208Gly)
|
rs532190594
|
|
NM_000019.4(ACAT1):c.670G>C (p.Ala224Pro)
|
rs2134761406
|
|
NM_000019.4(ACAT1):c.707T>C (p.Ile236Thr)
|
|
|
NM_000019.4(ACAT1):c.72+6C>A
|
|
|
NM_000019.4(ACAT1):c.730+6G>C
|
|
|
NM_000019.4(ACAT1):c.742G>A (p.Val248Ile)
|
|
|
NM_000019.4(ACAT1):c.744_746del (p.Val250del)
|
|
|
NM_000019.4(ACAT1):c.76A>G (p.Ile26Val)
|
|
|
NM_000019.4(ACAT1):c.826+3_826+6del
|
|
|
NM_000019.4(ACAT1):c.838G>A (p.Ala280Thr)
|
rs1318357125
|
|
NM_000019.4(ACAT1):c.854C>T (p.Thr285Ile)
|
rs1239221388
|
|
NM_000019.4(ACAT1):c.886A>T (p.Met296Leu)
|
|
|
NM_000019.4(ACAT1):c.934A>G (p.Ile312Val)
|
|
|
NM_000019.4(ACAT1):c.976C>G (p.Pro326Ala)
|
|
|
NM_000116.5(TAFAZZIN):c.100T>A (p.Phe34Ile)
|
|
|
NM_000116.5(TAFAZZIN):c.110-18C>T
|
|
|
NM_000116.5(TAFAZZIN):c.113A>G (p.Tyr38Cys)
|
|
|
NM_000116.5(TAFAZZIN):c.117G>A (p.Met39Ile)
|
|
|
NM_000116.5(TAFAZZIN):c.127A>T (p.Thr43Ser)
|
|
|
NM_000116.5(TAFAZZIN):c.145G>C (p.Val49Leu)
|
|
|
NM_000116.5(TAFAZZIN):c.154G>C (p.Glu52Gln)
|
|
|
NM_000116.5(TAFAZZIN):c.162C>G (p.Ile54Met)
|
|
|
NM_000116.5(TAFAZZIN):c.179C>T (p.Ala60Val)
|
|
|
NM_000116.5(TAFAZZIN):c.182C>T (p.Thr61Met)
|
|
|
NM_000116.5(TAFAZZIN):c.184C>T (p.Pro62Ser)
|
rs2068328744
|
|
NM_000116.5(TAFAZZIN):c.18G>T (p.Lys6Asn)
|
|
|
NM_000116.5(TAFAZZIN):c.190A>C (p.Ile64Leu)
|
rs1322365208
|
|
NM_000116.5(TAFAZZIN):c.1A>G (p.Met1Val)
|
|
|
NM_000116.5(TAFAZZIN):c.205C>A (p.His69Asn)
|
rs2068329796
|
|
NM_000116.5(TAFAZZIN):c.222C>G (p.Asp74Glu)
|
|
|
NM_000116.5(TAFAZZIN):c.227C>T (p.Pro76Leu)
|
rs878853654
|
|
NM_000116.5(TAFAZZIN):c.230A>G (p.His77Arg)
|
rs794729173
|
|
NM_000116.5(TAFAZZIN):c.233T>A (p.Leu78His)
|
|
|
NM_000116.5(TAFAZZIN):c.238+6C>T
|
rs781786197
|
|
NM_000116.5(TAFAZZIN):c.250C>T (p.Leu84Phe)
|
|
|
NM_000116.5(TAFAZZIN):c.284+3G>C
|
rs1569552708
|
|
NM_000116.5(TAFAZZIN):c.284+4A>T
|
rs1603377638
|
|
NM_000116.5(TAFAZZIN):c.284+5G>A
|
|
|
NM_000116.5(TAFAZZIN):c.28C>T (p.Pro10Ser)
|
|
|
NM_000116.5(TAFAZZIN):c.299C>T (p.Ala100Val)
|
rs1569552722
|
|
NM_000116.5(TAFAZZIN):c.29C>G (p.Pro10Arg)
|
rs781941217
|
|
NM_000116.5(TAFAZZIN):c.308G>A (p.Cys103Tyr)
|
|
|
NM_000116.5(TAFAZZIN):c.314C>T (p.Thr105Ile)
|
|
|
NM_000116.5(TAFAZZIN):c.322C>A (p.Leu108Ile)
|
|
|
NM_000116.5(TAFAZZIN):c.334T>C (p.Phe112Leu)
|
rs1281729528
|
|
NM_000116.5(TAFAZZIN):c.368G>C (p.Arg123Pro)
|
|
|
NM_000116.5(TAFAZZIN):c.370+2T>A
|
|
|
NM_000116.5(TAFAZZIN):c.370G>A (p.Gly124Arg)
|
|
|
NM_000116.5(TAFAZZIN):c.371G>A (p.Gly124Glu)
|
|
|
NM_000116.5(TAFAZZIN):c.379T>G (p.Phe127Val)
|
|
|
NM_000116.5(TAFAZZIN):c.37C>T (p.Pro13Ser)
|
|
|
NM_000116.5(TAFAZZIN):c.380T>G (p.Phe127Cys)
|
rs2068411768
|
|
NM_000116.5(TAFAZZIN):c.385C>T (p.Gln129Ter)
|
|
|
NM_000116.5(TAFAZZIN):c.394A>T (p.Asn132Tyr)
|
|
|
NM_000116.5(TAFAZZIN):c.3G>A (p.Met1Ile)
|
|
|
NM_000116.5(TAFAZZIN):c.409G>A (p.Val137Ile)
|
rs2068412679
|
|
NM_000116.5(TAFAZZIN):c.416A>T (p.Asp139Val)
|
rs1603378339
|
|
NM_000116.5(TAFAZZIN):c.425_428del (p.Arg142fs)
|
rs782253789
|
|
NM_000116.5(TAFAZZIN):c.429C>G (p.His143Gln)
|
|
|
NM_000116.5(TAFAZZIN):c.460G>A (p.Gly154Arg)
|
rs2068414496
|
|
NM_000116.5(TAFAZZIN):c.461-10_461-5del
|
|
|
NM_000116.5(TAFAZZIN):c.461-3C>A
|
|
|
NM_000116.5(TAFAZZIN):c.47C>G (p.Thr16Ser)
|
rs1227132566
|
|
NM_000116.5(TAFAZZIN):c.517G>A (p.Asp173Asn)
|
|
|
NM_000116.5(TAFAZZIN):c.51G>T (p.Trp17Cys)
|
rs1603376560
|
|
NM_000116.5(TAFAZZIN):c.524T>G (p.Val175Gly)
|
|
|
NM_000116.5(TAFAZZIN):c.53C>T (p.Thr18Ile)
|
|
|
NM_000116.5(TAFAZZIN):c.541+13_541+28del
|
|
|
NM_000116.5(TAFAZZIN):c.541+5G>A
|
rs2068571041
|
|
NM_000116.5(TAFAZZIN):c.541G>A (p.Gly181Arg)
|
|
|
NM_000116.5(TAFAZZIN):c.542-3C>T
|
|
|
NM_000116.5(TAFAZZIN):c.542G>A (p.Gly181Glu)
|
rs2068574531
|
|
NM_000116.5(TAFAZZIN):c.549G>T (p.Val183=)
|
|
|
NM_000116.5(TAFAZZIN):c.572G>C (p.Arg191Pro)
|
|
|
NM_000116.5(TAFAZZIN):c.578A>T (p.Lys193Met)
|
|
|
NM_000116.5(TAFAZZIN):c.583G>A (p.Gly195Arg)
|
rs878853656
|
|
NM_000116.5(TAFAZZIN):c.584G>A (p.Gly195Glu)
|
|
|
NM_000116.5(TAFAZZIN):c.608G>A (p.Cys203Tyr)
|
|
|
NM_000116.5(TAFAZZIN):c.611A>G (p.His204Arg)
|
|
|
NM_000116.5(TAFAZZIN):c.613C>A (p.Leu205Ile)
|
|
|
NM_000116.5(TAFAZZIN):c.645C>T (p.Val215=)
|
|
|
NM_000116.5(TAFAZZIN):c.647G>A (p.Gly216Glu)
|
rs727504431
|
|
NM_000116.5(TAFAZZIN):c.657C>G (p.Asp219Glu)
|
rs140751478
|
|
NM_000116.5(TAFAZZIN):c.658G>A (p.Val220Ile)
|
|
|
NM_000116.5(TAFAZZIN):c.682T>C (p.Phe228Leu)
|
|
|
NM_000116.5(TAFAZZIN):c.699+6T>G
|
|
|
NM_000116.5(TAFAZZIN):c.700-13G>A
|
|
|
NM_000116.5(TAFAZZIN):c.702A>G (p.Lys234=)
|
|
|
NM_000116.5(TAFAZZIN):c.707C>T (p.Thr236Ile)
|
|
|
NM_000116.5(TAFAZZIN):c.725C>T (p.Pro242Leu)
|
|
|
NM_000116.5(TAFAZZIN):c.727T>A (p.Phe243Ile)
|
|
|
NM_000116.5(TAFAZZIN):c.745C>A (p.Leu249Ile)
|
|
|
NM_000116.5(TAFAZZIN):c.751C>G (p.Arg251Gly)
|
rs372689133
|
|
NM_000116.5(TAFAZZIN):c.752G>A (p.Arg251Gln)
|
|
|
NM_000116.5(TAFAZZIN):c.754_763del (p.Leu252fs)
|
rs1557194381
|
|
NM_000116.5(TAFAZZIN):c.757C>T (p.Arg253Trp)
|
rs2068605582
|
|
NM_000116.5(TAFAZZIN):c.773C>T (p.Ser258Leu)
|
rs2068606445
|
|
NM_000116.5(TAFAZZIN):c.776C>T (p.Ala259Val)
|
|
|
NM_000116.5(TAFAZZIN):c.777+3G>A
|
rs2068606988
|
|
NM_000116.5(TAFAZZIN):c.777+6T>C
|
rs782175712
|
|
NM_000116.5(TAFAZZIN):c.788G>A (p.Arg263Gln)
|
|
|
NM_000116.5(TAFAZZIN):c.790A>G (p.Lys264Glu)
|
rs1557194488
|
|
NM_000116.5(TAFAZZIN):c.800C>T (p.Thr267Met)
|
rs1557194504
|
|
NM_000116.5(TAFAZZIN):c.811C>T (p.Gln271Ter)
|
rs1298362744
|
|
NM_000116.5(TAFAZZIN):c.812A>C (p.Gln271Pro)
|
|
|
NM_000116.5(TAFAZZIN):c.823C>T (p.Gln275Ter)
|
rs397515750
|
|
NM_000116.5(TAFAZZIN):c.836C>T (p.Thr279Ile)
|
|
|
NM_000116.5(TAFAZZIN):c.843_850del (p.Glu282fs)
|
|
|
NM_000116.5(TAFAZZIN):c.849G>C (p.Gln283His)
|
rs1025920600
|
|
NM_000116.5(TAFAZZIN):c.855C>A (p.His285Gln)
|
|
|
NM_000116.5(TAFAZZIN):c.85G>C (p.Gly29Arg)
|
|
|
NM_000116.5(TAFAZZIN):c.89C>T (p.Thr30Ile)
|
rs2068315101
|
|
NM_000116.5(TAFAZZIN):c.92A>G (p.Tyr31Cys)
|
|
|
NM_000191.3(HMGCL):c.112G>T (p.Val38Phe)
|
|
|
NM_000191.3(HMGCL):c.12G>A (p.Met4Ile)
|
|
|
NM_000191.3(HMGCL):c.144+4A>G
|
|
|
NM_000191.3(HMGCL):c.145A>G (p.Asn49Asp)
|
|
|
NM_000191.3(HMGCL):c.160C>G (p.Pro54Ala)
|
|
|
NM_000191.3(HMGCL):c.16A>G (p.Lys6Glu)
|
|
|
NM_000191.3(HMGCL):c.182A>G (p.Asp61Gly)
|
|
|
NM_000191.3(HMGCL):c.184A>T (p.Met62Leu)
|
rs373738626
|
|
NM_000191.3(HMGCL):c.187C>T (p.Leu63Phe)
|
|
|
NM_000191.3(HMGCL):c.20C>G (p.Ala7Gly)
|
rs754437215
|
|
NM_000191.3(HMGCL):c.20C>T (p.Ala7Val)
|
rs754437215
|
|
NM_000191.3(HMGCL):c.218C>A (p.Thr73Asn)
|
rs1570652345
|
|
NM_000191.3(HMGCL):c.233C>T (p.Ser78Phe)
|
|
|
NM_000191.3(HMGCL):c.254T>C (p.Met85Thr)
|
rs886046314
|
|
NM_000191.3(HMGCL):c.294T>A (p.Phe98Leu)
|
|
|
NM_000191.3(HMGCL):c.2T>C (p.Met1Thr)
|
rs2148428492
|
|
NM_000191.3(HMGCL):c.322C>T (p.Pro108Ser)
|
rs2148423771
|
|
NM_000191.3(HMGCL):c.331A>G (p.Lys111Glu)
|
rs1638619737
|
|
NM_000191.3(HMGCL):c.348G>A (p.Ala116=)
|
|
|
NM_000191.3(HMGCL):c.386C>G (p.Ala129Gly)
|
rs1244160232
|
|
NM_000191.3(HMGCL):c.41G>T (p.Gly14Val)
|
|
|
NM_000191.3(HMGCL):c.482A>G (p.Asn161Ser)
|
|
|
NM_000191.3(HMGCL):c.497+3G>A
|
rs763178392
|
|
NM_000191.3(HMGCL):c.540C>G (p.Ile180Met)
|
rs2148420690
|
|
NM_000191.3(HMGCL):c.565A>C (p.Thr189Pro)
|
|
|
NM_000191.3(HMGCL):c.595G>C (p.Glu199Gln)
|
|
|
NM_000191.3(HMGCL):c.5C>T (p.Ala2Val)
|
|
|
NM_000191.3(HMGCL):c.60+6T>A
|
|
|
NM_000191.3(HMGCL):c.608G>A (p.Gly203Glu)
|
rs1553131940
|
|
NM_000191.3(HMGCL):c.614C>G (p.Thr205Ser)
|
rs1445870588
|
|
NM_000191.3(HMGCL):c.629C>T (p.Thr210Ile)
|
rs1570645382
|
|
NM_000191.3(HMGCL):c.649A>G (p.Met217Val)
|
rs767993106
|
|
NM_000191.3(HMGCL):c.661G>A (p.Val221Ile)
|
rs745624801
|
|
NM_000191.3(HMGCL):c.685G>A (p.Ala229Thr)
|
|
|
NM_000191.3(HMGCL):c.686C>A (p.Ala229Asp)
|
rs752913892
|
|
NM_000191.3(HMGCL):c.713A>G (p.Tyr238Cys)
|
|
|
NM_000191.3(HMGCL):c.721G>A (p.Ala241Thr)
|
rs763416473
|
|
NM_000191.3(HMGCL):c.743C>T (p.Ala248Val)
|
|
|
NM_000191.3(HMGCL):c.750+6C>T
|
|
|
NM_000191.3(HMGCL):c.751-10_751-9del
|
rs1638366878
|
|
NM_000191.3(HMGCL):c.751-3T>C
|
rs1356054021
|
|
NM_000191.3(HMGCL):c.760A>G (p.Ser254Gly)
|
|
|
NM_000191.3(HMGCL):c.76A>T (p.Met26Leu)
|
rs756958205
|
|
NM_000191.3(HMGCL):c.793G>A (p.Gly265Ser)
|
|
|
NM_000191.3(HMGCL):c.799C>T (p.Pro267Ser)
|
rs1220289416
|
|
NM_000191.3(HMGCL):c.800C>A (p.Pro267His)
|
rs750347526
|
|
NM_000191.3(HMGCL):c.806C>T (p.Ala269Val)
|
|
|
NM_000191.3(HMGCL):c.811G>A (p.Gly271Arg)
|
|
|
NM_000191.3(HMGCL):c.814G>T (p.Ala272Ser)
|
rs1638363983
|
|
NM_000191.3(HMGCL):c.824A>G (p.Asn275Ser)
|
|
|
NM_000191.3(HMGCL):c.841C>G (p.Leu281Val)
|
rs1638363122
|
|
NM_000191.3(HMGCL):c.866G>A (p.Gly289Asp)
|
|
|
NM_000191.3(HMGCL):c.875C>T (p.Thr292Met)
|
rs1638362250
|
|
NM_000191.3(HMGCL):c.876G>T (p.Thr292=)
|
|
|
NM_000191.3(HMGCL):c.878G>C (p.Gly293Ala)
|
|
|
NM_000191.3(HMGCL):c.899T>C (p.Leu300Pro)
|
rs2148415814
|
|
NM_000191.3(HMGCL):c.89C>T (p.Pro30Leu)
|
rs1638700415
|
|
NM_000191.3(HMGCL):c.920G>A (p.Cys307Tyr)
|
|
|
NM_000191.3(HMGCL):c.945C>G (p.Ser315Arg)
|
rs1557484629
|
|
NM_000191.3(HMGCL):c.962C>A (p.Ala321Asp)
|
|
|
NM_000255.4(MMUT):c.2196_2197insCGGCA (p.Val733fs)
|
rs1766985866
|
|
NM_000282.4(PCCA):c.1007A>G (p.Glu336Gly)
|
rs2063428007
|
|
NM_000282.4(PCCA):c.1016T>A (p.Val339Glu)
|
|
|
NM_000282.4(PCCA):c.1026GAA[1] (p.Lys343del)
|
|
|
NM_000282.4(PCCA):c.1030A>G (p.Asn344Asp)
|
|
|
NM_000282.4(PCCA):c.1031A>G (p.Asn344Ser)
|
rs2063430702
|
|
NM_000282.4(PCCA):c.1031A>T (p.Asn344Ile)
|
|
|
NM_000282.4(PCCA):c.1033T>G (p.Phe345Val)
|
rs1014756935
|
|
NM_000282.4(PCCA):c.1037A>G (p.Tyr346Cys)
|
rs542465356
|
|
NM_000282.4(PCCA):c.1040T>C (p.Phe347Ser)
|
rs2152589132
|
|
NM_000282.4(PCCA):c.1055C>T (p.Thr352Ile)
|
rs2063432405
|
|
NM_000282.4(PCCA):c.1071G>T (p.Glu357Asp)
|
rs761295534
|
|
NM_000282.4(PCCA):c.1075C>G (p.Pro359Ala)
|
|
|
NM_000282.4(PCCA):c.1105C>G (p.Leu369Val)
|
|
|
NM_000282.4(PCCA):c.1127T>C (p.Val376Ala)
|
|
|
NM_000282.4(PCCA):c.1138T>C (p.Tyr380His)
|
rs1303977643
|
|
NM_000282.4(PCCA):c.1141C>T (p.Pro381Ser)
|
rs2152683965
|
|
NM_000282.4(PCCA):c.1145T>G (p.Leu382Arg)
|
|
|
NM_000282.4(PCCA):c.1152C>A (p.His384Gln)
|
|
|
NM_000282.4(PCCA):c.1160C>G (p.Ala387Gly)
|
rs1484267212
|
|
NM_000282.4(PCCA):c.1162G>A (p.Asp388Asn)
|
|
|
NM_000282.4(PCCA):c.1168C>T (p.Arg390Cys)
|
|
|
NM_000282.4(PCCA):c.1169G>A (p.Arg390His)
|
|
|
NM_000282.4(PCCA):c.1171A>G (p.Ile391Val)
|
|
|
NM_000282.4(PCCA):c.1175A>G (p.Asn392Ser)
|
rs202015762
|
|
NM_000282.4(PCCA):c.1177G>A (p.Gly393Ser)
|
|
|
NM_000282.4(PCCA):c.1178G>A (p.Gly393Asp)
|
|
|
NM_000282.4(PCCA):c.1178G>C (p.Gly393Ala)
|
|
|
NM_000282.4(PCCA):c.1184C>T (p.Ala395Val)
|
rs1354175358
|
|
NM_000282.4(PCCA):c.1209+6dup
|
rs746645726
|
|
NM_000282.4(PCCA):c.1209G>A (p.Glu403=)
|
rs775767058
|
|
NM_000282.4(PCCA):c.1213C>G (p.Pro405Ala)
|
rs772750102
|
|
NM_000282.4(PCCA):c.1219A>G (p.Lys407Glu)
|
rs1190274343
|
|
NM_000282.4(PCCA):c.1220A>G (p.Lys407Arg)
|
|
|
NM_000282.4(PCCA):c.1240A>G (p.Ile414Val)
|
|
|
NM_000282.4(PCCA):c.1258T>C (p.Tyr420His)
|
|
|
NM_000282.4(PCCA):c.1265A>G (p.Glu422Gly)
|
|
|
NM_000282.4(PCCA):c.1271T>C (p.Leu424Ser)
|
|
|
NM_000282.4(PCCA):c.1288C>G (p.Arg430Gly)
|
rs776821944
|
|
NM_000282.4(PCCA):c.128A>G (p.Gln43Arg)
|
|
|
NM_000282.4(PCCA):c.12C>G (p.Phe4Leu)
|
rs759257021
|
|
NM_000282.4(PCCA):c.1318G>A (p.Asp440Asn)
|
|
|
NM_000282.4(PCCA):c.1323T>G (p.Ile441Met)
|
|
|
NM_000282.4(PCCA):c.1339C>T (p.Pro447Ser)
|
|
|
NM_000282.4(PCCA):c.1353+5_1353+9del
|
rs764045674
|
|
NM_000282.4(PCCA):c.1366G>A (p.Gly456Ser)
|
rs1566911665
|
|
NM_000282.4(PCCA):c.136A>G (p.Met46Val)
|
rs774158004
|
|
NM_000282.4(PCCA):c.1381G>A (p.Glu461Lys)
|
|
|
NM_000282.4(PCCA):c.1397T>C (p.Met466Thr)
|
rs370549437
|
|
NM_000282.4(PCCA):c.1399G>A (p.Ala467Thr)
|
|
|
NM_000282.4(PCCA):c.1404T>G (p.Asp468Glu)
|
rs769970677
|
|
NM_000282.4(PCCA):c.1423A>T (p.Ile475Phe)
|
rs35719359
|
|
NM_000282.4(PCCA):c.1427G>A (p.Arg476Gln)
|
|
|
NM_000282.4(PCCA):c.1429G>A (p.Gly477Ser)
|
|
|
NM_000282.4(PCCA):c.1438C>A (p.His480Asn)
|
|
|
NM_000282.4(PCCA):c.1453C>T (p.Leu485Phe)
|
rs1302157004
|
|
NM_000282.4(PCCA):c.1461G>C (p.Glu487Asp)
|
rs767997785
|
|
NM_000282.4(PCCA):c.1469T>C (p.Ile490Thr)
|
|
|
NM_000282.4(PCCA):c.1478G>A (p.Arg493His)
|
|
|
NM_000282.4(PCCA):c.1496T>C (p.Ile499Thr)
|
|
|
NM_000282.4(PCCA):c.1516G>T (p.Asp506Tyr)
|
|
|
NM_000282.4(PCCA):c.1519G>T (p.Val507Leu)
|
rs146061036
|
|
NM_000282.4(PCCA):c.1522T>C (p.Tyr508His)
|
|
|
NM_000282.4(PCCA):c.1534T>G (p.Phe512Val)
|
rs779659813
|
|
NM_000282.4(PCCA):c.1566G>T (p.Lys522Asn)
|
rs2071087775
|
|
NM_000282.4(PCCA):c.1567A>T (p.Asn523Tyr)
|
|
|
NM_000282.4(PCCA):c.1568A>C (p.Asn523Thr)
|
rs2152751879
|
|
NM_000282.4(PCCA):c.1569C>G (p.Asn523Lys)
|
|
|
NM_000282.4(PCCA):c.1589C>T (p.Ser530Leu)
|
rs2071090257
|
|
NM_000282.4(PCCA):c.1591T>C (p.Ser531Pro)
|
|
|
NM_000282.4(PCCA):c.1596G>T (p.Leu532Phe)
|
|
|
NM_000282.4(PCCA):c.1612T>A (p.Leu538Ile)
|
|
|
NM_000282.4(PCCA):c.1622A>G (p.Gln541Arg)
|
rs2152751997
|
|
NM_000282.4(PCCA):c.1626T>G (p.His542Gln)
|
|
|
NM_000282.4(PCCA):c.1643+6G>A
|
|
|
NM_000282.4(PCCA):c.1666A>G (p.Ile556Val)
|
rs2152811800
|
|
NM_000282.4(PCCA):c.1682T>G (p.Leu561Arg)
|
rs2152811823
|
|
NM_000282.4(PCCA):c.1687G>A (p.Val563Ile)
|
|
|
NM_000282.4(PCCA):c.1694T>C (p.Leu565Ser)
|
|
|
NM_000282.4(PCCA):c.1697A>G (p.His566Arg)
|
|
|
NM_000282.4(PCCA):c.1705G>A (p.Val569Ile)
|
|
|
NM_000282.4(PCCA):c.1714G>A (p.Val572Ile)
|
|
|
NM_000282.4(PCCA):c.1729A>G (p.Asn577Asp)
|
rs1475268855
|
|
NM_000282.4(PCCA):c.172C>T (p.Pro58Ser)
|
|
|
NM_000282.4(PCCA):c.1731T>A (p.Asn577Lys)
|
rs2152811890
|
|
NM_000282.4(PCCA):c.1792C>G (p.Leu598Val)
|
rs2079093758
|
|
NM_000282.4(PCCA):c.1799C>T (p.Ser600Leu)
|
|
|
NM_000282.4(PCCA):c.1819G>A (p.Val607Ile)
|
|
|
NM_000282.4(PCCA):c.1819G>C (p.Val607Leu)
|
|
|
NM_000282.4(PCCA):c.183+3A>G
|
|
|
NM_000282.4(PCCA):c.183+4_183+7del
|
rs1555342581
|
|
NM_000282.4(PCCA):c.1835G>C (p.Arg612Thr)
|
rs1947530469
|
|
NM_000282.4(PCCA):c.183A>G (p.Lys61=)
|
|
|
NM_000282.4(PCCA):c.1845+10584_1845+10585delinsTC
|
|
|
NM_000282.4(PCCA):c.1856G>C (p.Arg619Pro)
|
|
|
NM_000282.4(PCCA):c.1877G>A (p.Ser626Asn)
|
|
|
NM_000282.4(PCCA):c.1883A>C (p.Gln628Pro)
|
|
|
NM_000282.4(PCCA):c.1898T>C (p.Val633Ala)
|
|
|
NM_000282.4(PCCA):c.1898T>G (p.Val633Gly)
|
rs375617644
|
|
NM_000282.4(PCCA):c.1903A>G (p.Lys635Glu)
|
|
|
NM_000282.4(PCCA):c.1919C>G (p.Thr640Ser)
|
rs1594099709
|
|
NM_000282.4(PCCA):c.1943A>C (p.Lys648Thr)
|
|
|
NM_000282.4(PCCA):c.1943A>G (p.Lys648Arg)
|
|
|
NM_000282.4(PCCA):c.1969G>A (p.Asp657Asn)
|
|
|
NM_000282.4(PCCA):c.1978A>T (p.Ser660Cys)
|
|
|
NM_000282.4(PCCA):c.1981G>A (p.Val661Ile)
|
|
|
NM_000282.4(PCCA):c.1985T>G (p.Leu662Arg)
|
|
|
NM_000282.4(PCCA):c.1994C>T (p.Pro665Leu)
|
|
|
NM_000282.4(PCCA):c.19G>C (p.Gly7Arg)
|
|
|
NM_000282.4(PCCA):c.1A>G (p.Met1Val)
|
|
|
NM_000282.4(PCCA):c.2005G>C (p.Val669Leu)
|
|
|
NM_000282.4(PCCA):c.2017G>A (p.Val673Ile)
|
rs142646074
|
|
NM_000282.4(PCCA):c.2028G>T (p.Lys676Asn)
|
|
|
NM_000282.4(PCCA):c.2062T>C (p.Cys688Arg)
|
rs774949844
|
|
NM_000282.4(PCCA):c.209A>G (p.Asn70Ser)
|
|
|
NM_000282.4(PCCA):c.20G>C (p.Gly7Ala)
|
|
|
NM_000282.4(PCCA):c.2108_2111del (p.Lys703fs)
|
|
|
NM_000282.4(PCCA):c.2113G>T (p.Gly705Cys)
|
rs2087968295
|
|
NM_000282.4(PCCA):c.2115C>T (p.Gly705=)
|
|
|
NM_000282.4(PCCA):c.2117C>T (p.Thr706Met)
|
|
|
NM_000282.4(PCCA):c.2118+3G>C
|
|
|
NM_000282.4(PCCA):c.2118G>A (p.Thr706=)
|
rs758468297
|
|
NM_000282.4(PCCA):c.2125T>C (p.Ser709Pro)
|
|
|
NM_000282.4(PCCA):c.2134T>C (p.Cys712Arg)
|
rs2088292660
|
|
NM_000282.4(PCCA):c.2135G>A (p.Cys712Tyr)
|
|
|
NM_000282.4(PCCA):c.2155G>A (p.Gly719Arg)
|
rs141286340
|
|
NM_000282.4(PCCA):c.2161G>T (p.Gly721Trp)
|
|
|
NM_000282.4(PCCA):c.2162_2163insAG (p.Asp722fs)
|
rs749875940
|
|
NM_000282.4(PCCA):c.2165A>T (p.Asp722Val)
|
rs1283571787
|
|
NM_000282.4(PCCA):c.252G>T (p.Lys84Asn)
|
|
|
NM_000282.4(PCCA):c.257G>A (p.Gly86Asp)
|
|
|
NM_000282.4(PCCA):c.264G>C (p.Lys88Asn)
|
rs2152279056
|
|
NM_000282.4(PCCA):c.286G>A (p.Val96Ile)
|
|
|
NM_000282.4(PCCA):c.287T>C (p.Val96Ala)
|
rs2048368792
|
|
NM_000282.4(PCCA):c.289G>C (p.Asp97His)
|
|
|
NM_000282.4(PCCA):c.290A>G (p.Asp97Gly)
|
|
|
NM_000282.4(PCCA):c.293C>T (p.Ala98Val)
|
rs2152279131
|
|
NM_000282.4(PCCA):c.29C>A (p.Pro10Gln)
|
rs1251572354
|
|
NM_000282.4(PCCA):c.29C>T (p.Pro10Leu)
|
rs1251572354
|
|
NM_000282.4(PCCA):c.300+2dup
|
rs2048370100
|
|
NM_000282.4(PCCA):c.305A>C (p.His102Pro)
|
|
|
NM_000282.4(PCCA):c.315G>A (p.Met105Ile)
|
|
|
NM_000282.4(PCCA):c.32T>A (p.Leu11Gln)
|
|
|
NM_000282.4(PCCA):c.331T>A (p.Cys111Ser)
|
|
|
NM_000282.4(PCCA):c.334G>A (p.Val112Ile)
|
|
|
NM_000282.4(PCCA):c.340C>A (p.Pro114Thr)
|
|
|
NM_000282.4(PCCA):c.380T>G (p.Ile127Ser)
|
|
|
NM_000282.4(PCCA):c.383T>C (p.Met128Thr)
|
|
|
NM_000282.4(PCCA):c.391A>G (p.Ile131Val)
|
|
|
NM_000282.4(PCCA):c.391A>T (p.Ile131Phe)
|
|
|
NM_000282.4(PCCA):c.409C>A (p.Gln137Lys)
|
|
|
NM_000282.4(PCCA):c.415G>A (p.Val139Ile)
|
rs770129876
|
|
NM_000282.4(PCCA):c.415G>T (p.Val139Leu)
|
|
|
NM_000282.4(PCCA):c.418C>T (p.His140Tyr)
|
|
|
NM_000282.4(PCCA):c.419A>G (p.His140Arg)
|
|
|
NM_000282.4(PCCA):c.449A>G (p.Lys150Arg)
|
|
|
NM_000282.4(PCCA):c.458C>A (p.Ala153Asp)
|
|
|
NM_000282.4(PCCA):c.460A>G (p.Arg154Gly)
|
|
|
NM_000282.4(PCCA):c.479A>G (p.Asp160Gly)
|
|
|
NM_000282.4(PCCA):c.484G>T (p.Val162Phe)
|
|
|
NM_000282.4(PCCA):c.488T>A (p.Phe163Tyr)
|
rs1177671858
|
|
NM_000282.4(PCCA):c.497C>T (p.Pro166Leu)
|
|
|
NM_000282.4(PCCA):c.4G>C (p.Ala2Pro)
|
|
|
NM_000282.4(PCCA):c.505C>T (p.His169Tyr)
|
|
|
NM_000282.4(PCCA):c.518C>G (p.Ala173Gly)
|
|
|
NM_000282.4(PCCA):c.52G>C (p.Gly18Arg)
|
rs779286461
|
|
NM_000282.4(PCCA):c.531G>C (p.Lys177Asn)
|
rs2152478767
|
|
NM_000282.4(PCCA):c.578C>T (p.Pro193Leu)
|
rs1225108460
|
|
NM_000282.4(PCCA):c.587A>G (p.Asp196Gly)
|
|
|
NM_000282.4(PCCA):c.58T>A (p.Trp20Arg)
|
|
|
NM_000282.4(PCCA):c.58T>C (p.Trp20Arg)
|
rs1302125451
|
|
NM_000282.4(PCCA):c.592G>A (p.Val198Ile)
|
|
|
NM_000282.4(PCCA):c.602A>T (p.Asp201Val)
|
|
|
NM_000282.4(PCCA):c.608AAG[1] (p.Glu204del)
|
rs750672608
|
|
NM_000282.4(PCCA):c.611A>C (p.Glu204Ala)
|
|
|
NM_000282.4(PCCA):c.611A>G (p.Glu204Gly)
|
|
|
NM_000282.4(PCCA):c.633A>T (p.Glu211Asp)
|
|
|
NM_000282.4(PCCA):c.637+3A>G
|
|
|
NM_000282.4(PCCA):c.64C>T (p.Pro22Ser)
|
|
|
NM_000282.4(PCCA):c.650T>C (p.Met217Thr)
|
rs750593565
|
|
NM_000282.4(PCCA):c.651G>C (p.Met217Ile)
|
rs1018685292
|
|
NM_000282.4(PCCA):c.674G>A (p.Gly225Asp)
|
rs2062161647
|
|
NM_000282.4(PCCA):c.685A>G (p.Met229Val)
|
|
|
NM_000282.4(PCCA):c.701A>G (p.Asp234Gly)
|
|
|
NM_000282.4(PCCA):c.702T>A (p.Asp234Glu)
|
|
|
NM_000282.4(PCCA):c.719A>C (p.Asp240Ala)
|
|
|
NM_000282.4(PCCA):c.729A>T (p.Arg243Ser)
|
|
|
NM_000282.4(PCCA):c.740A>C (p.Gln247Pro)
|
|
|
NM_000282.4(PCCA):c.742G>A (p.Glu248Lys)
|
rs1064793224
|
|
NM_000282.4(PCCA):c.755G>C (p.Ser252Thr)
|
|
|
NM_000282.4(PCCA):c.763G>A (p.Asp255Asn)
|
|
|
NM_000282.4(PCCA):c.77T>C (p.Met26Thr)
|
|
|
NM_000282.4(PCCA):c.792T>G (p.Ile264Met)
|
rs1484956776
|
|
NM_000282.4(PCCA):c.797A>C (p.Asn266Thr)
|
rs2152564988
|
|
NM_000282.4(PCCA):c.820G>A (p.Val274Ile)
|
rs767299022
|
|
NM_000282.4(PCCA):c.832A>G (p.Lys278Glu)
|
rs1595032543
|
|
NM_000282.4(PCCA):c.841A>C (p.Asn281His)
|
rs2152572294
|
|
NM_000282.4(PCCA):c.858T>A (p.Asn286Lys)
|
rs778427348
|
|
NM_000282.4(PCCA):c.904G>C (p.Glu302Gln)
|
rs775686458
|
|
NM_000282.4(PCCA):c.915-8A>G
|
rs2063416324
|
|
NM_000282.4(PCCA):c.915C>A (p.Ser305Arg)
|
|
|
NM_000282.4(PCCA):c.915C>G (p.Ser305Arg)
|
rs768758704
|
|
NM_000282.4(PCCA):c.915C>T (p.Ser305=)
|
|
|
NM_000282.4(PCCA):c.917T>A (p.Ile306Asn)
|
|
|
NM_000282.4(PCCA):c.926A>T (p.Asp309Val)
|
|
|
NM_000282.4(PCCA):c.929C>T (p.Ala310Val)
|
rs146927771
|
|
NM_000282.4(PCCA):c.930G>A (p.Ala310=)
|
|
|
NM_000282.4(PCCA):c.933G>C (p.Glu311Asp)
|
rs369790356
|
|
NM_000282.4(PCCA):c.934A>T (p.Thr312Ser)
|
|
|
NM_000282.4(PCCA):c.937C>G (p.Arg313Gly)
|
rs138149179
|
|
NM_000282.4(PCCA):c.938G>A (p.Arg313Gln)
|
|
|
NM_000282.4(PCCA):c.944C>T (p.Ala315Val)
|
rs1302507711
|
|
NM_000282.4(PCCA):c.947T>A (p.Met316Lys)
|
rs137861347
|
|
NM_000282.4(PCCA):c.947T>C (p.Met316Thr)
|
|
|
NM_000282.4(PCCA):c.947T>G (p.Met316Arg)
|
rs137861347
|
|
NM_000282.4(PCCA):c.958G>A (p.Ala320Thr)
|
rs1434912184
|
|
NM_000282.4(PCCA):c.962T>C (p.Val321Ala)
|
|
|
NM_000282.4(PCCA):c.967C>T (p.Leu323Phe)
|
rs1394612377
|
|
NM_000532.5(PCCB):c.1004A>G (p.Asn335Ser)
|
|
|
NM_000532.5(PCCB):c.1006T>A (p.Tyr336Asn)
|
|
|
NM_000532.5(PCCB):c.1013A>C (p.Lys338Thr)
|
|
|
NM_000532.5(PCCB):c.1015A>G (p.Asn339Asp)
|
rs1934921365
|
|
NM_000532.5(PCCB):c.1021A>G (p.Ile341Val)
|
|
|
NM_000532.5(PCCB):c.1022TTG[1] (p.Val342del)
|
|
|
NM_000532.5(PCCB):c.1037G>A (p.Arg346Lys)
|
|
|
NM_000532.5(PCCB):c.1039A>T (p.Met347Leu)
|
|
|
NM_000532.5(PCCB):c.1068C>T (p.Gly356=)
|
rs980116020
|
|
NM_000532.5(PCCB):c.106A>C (p.Asn36His)
|
|
|
NM_000532.5(PCCB):c.1088C>T (p.Ser363Leu)
|
rs2108226720
|
|
NM_000532.5(PCCB):c.1090+3A>C
|
|
|
NM_000532.5(PCCB):c.1090+6A>C
|
|
|
NM_000532.5(PCCB):c.1091-6_1091-3del
|
rs767794302
|
|
NM_000532.5(PCCB):c.1123_1124delinsCT (p.Ala375Leu)
|
|
|
NM_000532.5(PCCB):c.1124C>T (p.Ala375Val)
|
rs1576360099
|
|
NM_000532.5(PCCB):c.1132G>C (p.Val378Leu)
|
rs761529521
|
|
NM_000532.5(PCCB):c.1132G>T (p.Val378Phe)
|
rs761529521
|
|
NM_000532.5(PCCB):c.115A>G (p.Ile39Val)
|
rs1208205672
|
|
NM_000532.5(PCCB):c.1165A>T (p.Ile389Phe)
|
|
|
NM_000532.5(PCCB):c.1166T>A (p.Ile389Asn)
|
rs2108237886
|
|
NM_000532.5(PCCB):c.1169C>T (p.Thr390Ile)
|
rs201880353
|
|
NM_000532.5(PCCB):c.116T>G (p.Ile39Ser)
|
|
|
NM_000532.5(PCCB):c.1195C>T (p.Pro399Ser)
|
|
|
NM_000532.5(PCCB):c.119A>G (p.Glu40Gly)
|
|
|
NM_000532.5(PCCB):c.11_28dup (p.Ala4_Ala9dup)
|
rs777359703
|
|
NM_000532.5(PCCB):c.1202C>A (p.Thr401Lys)
|
rs371610471
|
|
NM_000532.5(PCCB):c.1202C>T (p.Thr401Ile)
|
|
|
NM_000532.5(PCCB):c.1207C>G (p.Gln403Glu)
|
|
|
NM_000532.5(PCCB):c.1219G>A (p.Gly407Ser)
|
|
|
NM_000532.5(PCCB):c.1220G>T (p.Gly407Val)
|
|
|
NM_000532.5(PCCB):c.1222ATC[1] (p.Ile409del)
|
|
|
NM_000532.5(PCCB):c.1231C>A (p.His411Asn)
|
|
|
NM_000532.5(PCCB):c.1235G>A (p.Gly412Asp)
|
rs994386938
|
|
NM_000532.5(PCCB):c.1252G>A (p.Ala418Thr)
|
|
|
NM_000532.5(PCCB):c.1253C>T (p.Ala418Val)
|
|
|
NM_000532.5(PCCB):c.1267A>G (p.Thr423Ala)
|
|
|
NM_000532.5(PCCB):c.1274C>T (p.Pro425Leu)
|
|
|
NM_000532.5(PCCB):c.127C>T (p.Arg43Cys)
|
rs1031941989
|
|
NM_000532.5(PCCB):c.1299+5G>A
|
|
|
NM_000532.5(PCCB):c.12_26del (p.Leu5_Ala9del)
|
rs1553773148
|
|
NM_000532.5(PCCB):c.1300-4T>A
|
rs1935372420
|
|
NM_000532.5(PCCB):c.130C>G (p.Arg44Gly)
|
rs749210374
|
|
NM_000532.5(PCCB):c.1348G>A (p.Asp450Asn)
|
|
|
NM_000532.5(PCCB):c.134C>G (p.Thr45Ser)
|
|
|
NM_000532.5(PCCB):c.1356C>G (p.Asn452Lys)
|
rs1455298516
|
|
NM_000532.5(PCCB):c.1358A>G (p.Tyr453Cys)
|
|
|
NM_000532.5(PCCB):c.1361C>A (p.Ala454Asp)
|
|
|
NM_000532.5(PCCB):c.1393G>A (p.Ala465Thr)
|
rs774232001
|
|
NM_000532.5(PCCB):c.1398+3G>A
|
rs767511434
|
|
NM_000532.5(PCCB):c.139C>A (p.Leu47Met)
|
|
|
NM_000532.5(PCCB):c.1400G>C (p.Gly467Ala)
|
rs2108240251
|
|
NM_000532.5(PCCB):c.1402G>T (p.Ala468Ser)
|
|
|
NM_000532.5(PCCB):c.140T>G (p.Leu47Arg)
|
|
|
NM_000532.5(PCCB):c.1462G>C (p.Glu488Gln)
|
|
|
NM_000532.5(PCCB):c.1475A>G (p.Asn492Ser)
|
|
|
NM_000532.5(PCCB):c.1482C>G (p.Phe494Leu)
|
rs1179000221
|
|
NM_000532.5(PCCB):c.1489G>A (p.Ala497Thr)
|
|
|
NM_000532.5(PCCB):c.1490C>G (p.Ala497Gly)
|
|
|
NM_000532.5(PCCB):c.1496G>T (p.Arg499Leu)
|
|
|
NM_000532.5(PCCB):c.1518C>G (p.Ile506Met)
|
|
|
NM_000532.5(PCCB):c.151G>A (p.Gly51Ser)
|
|
|
NM_000532.5(PCCB):c.1520A>G (p.Gln507Arg)
|
rs886058020
|
|
NM_000532.5(PCCB):c.1531A>C (p.Thr511Pro)
|
|
|
NM_000532.5(PCCB):c.1555C>G (p.Leu519Val)
|
rs1935481576
|
|
NM_000532.5(PCCB):c.1568C>T (p.Ala523Val)
|
|
|
NM_000532.5(PCCB):c.1570A>G (p.Ser524Gly)
|
rs1560035695
|
|
NM_000532.5(PCCB):c.1572C>G (p.Ser524Arg)
|
rs2108241736
|
|
NM_000532.5(PCCB):c.1574A>G (p.Lys525Arg)
|
|
|
NM_000532.5(PCCB):c.1586G>A (p.Arg529His)
|
|
|
NM_000532.5(PCCB):c.158G>A (p.Arg53His)
|
|
|
NM_000532.5(PCCB):c.1591T>G (p.Trp531Gly)
|
rs1284814283
|
|
NM_000532.5(PCCB):c.1609_1610del (p.Ile537fs)
|
|
|
NM_000532.5(PCCB):c.1610T>A (p.Ile537Asn)
|
rs759733016
|
|
NM_000532.5(PCCB):c.1612C>T (p.Pro538Ser)
|
rs775930817
|
|
NM_000532.5(PCCB):c.161G>A (p.Arg54His)
|
|
|
NM_000532.5(PCCB):c.164T>C (p.Ile55Thr)
|
rs765790211
|
|
NM_000532.5(PCCB):c.166G>T (p.Asp56Tyr)
|
|
|
NM_000532.5(PCCB):c.16C>G (p.Arg6Gly)
|
|
|
NM_000532.5(PCCB):c.16C>T (p.Arg6Trp)
|
rs377681768
|
|
NM_000532.5(PCCB):c.170C>T (p.Ala57Val)
|
|
|
NM_000532.5(PCCB):c.175C>T (p.His59Tyr)
|
|
|
NM_000532.5(PCCB):c.17G>T (p.Arg6Leu)
|
rs767965814
|
|
NM_000532.5(PCCB):c.183+11_183+30dup
|
rs1205510892
|
|
NM_000532.5(PCCB):c.183+14G>A
|
|
|
NM_000532.5(PCCB):c.183+21_183+46del
|
|
|
NM_000532.5(PCCB):c.183+3_183+6del
|
|
|
NM_000532.5(PCCB):c.183+5G>C
|
|
|
NM_000532.5(PCCB):c.185G>C (p.Gly62Ala)
|
rs886058017
|
|
NM_000532.5(PCCB):c.197C>T (p.Ala66Val)
|
rs2108137275
|
|
NM_000532.5(PCCB):c.199A>G (p.Arg67Gly)
|
|
|
NM_000532.5(PCCB):c.19G>T (p.Val7Leu)
|
|
|
NM_000532.5(PCCB):c.202G>A (p.Glu68Lys)
|
rs2108137296
|
|
NM_000532.5(PCCB):c.210C>G (p.Ile70Met)
|
|
|
NM_000532.5(PCCB):c.211A>G (p.Ser71Gly)
|
|
|
NM_000532.5(PCCB):c.221T>C (p.Leu74Pro)
|
|
|
NM_000532.5(PCCB):c.223G>T (p.Asp75Tyr)
|
rs2108137332
|
|
NM_000532.5(PCCB):c.235T>G (p.Phe79Val)
|
|
|
NM_000532.5(PCCB):c.247G>A (p.Asp83Asn)
|
|
|
NM_000532.5(PCCB):c.274G>C (p.Asp92His)
|
rs2108137411
|
|
NM_000532.5(PCCB):c.275A>G (p.Asp92Gly)
|
|
|
NM_000532.5(PCCB):c.283A>G (p.Met95Val)
|
rs1941662476
|
|
NM_000532.5(PCCB):c.293A>C (p.Asp98Ala)
|
rs915881293
|
|
NM_000532.5(PCCB):c.298_303del (p.Asn100_Lys101del)
|
rs763485353
|
|
NM_000532.5(PCCB):c.344A>G (p.Asn115Ser)
|
rs2108138282
|
|
NM_000532.5(PCCB):c.34G>A (p.Ala12Thr)
|
|
|
NM_000532.5(PCCB):c.35C>A (p.Ala12Glu)
|
rs1257439275
|
|
NM_000532.5(PCCB):c.368G>T (p.Ser123Ile)
|
rs1941677490
|
|
NM_000532.5(PCCB):c.372+4T>C
|
|
|
NM_000532.5(PCCB):c.392G>A (p.Gly131Asp)
|
|
|
NM_000532.5(PCCB):c.393C>T (p.Gly131=)
|
rs2108144426
|
|
NM_000532.5(PCCB):c.394A>G (p.Ser132Gly)
|
|
|
NM_000532.5(PCCB):c.404G>T (p.Gly135Val)
|
|
|
NM_000532.5(PCCB):c.40C>A (p.Leu14Ile)
|
|
|
NM_000532.5(PCCB):c.40C>T (p.Leu14Phe)
|
rs1215705998
|
|
NM_000532.5(PCCB):c.430-13T>G
|
|
|
NM_000532.5(PCCB):c.430A>G (p.Ile144Val)
|
|
|
NM_000532.5(PCCB):c.472C>G (p.Leu158Val)
|
rs2108146685
|
|
NM_000532.5(PCCB):c.477T>A (p.Asn159Lys)
|
rs765946213
|
|
NM_000532.5(PCCB):c.513G>C (p.Glu171Asp)
|
rs1941842177
|
|
NM_000532.5(PCCB):c.526T>C (p.Tyr176His)
|
|
|
NM_000532.5(PCCB):c.527A>G (p.Tyr176Cys)
|
|
|
NM_000532.5(PCCB):c.53C>G (p.Ala18Gly)
|
rs769481450
|
|
NM_000532.5(PCCB):c.53C>T (p.Ala18Val)
|
|
|
NM_000532.5(PCCB):c.545G>C (p.Arg182Thr)
|
rs2108181825
|
|
NM_000532.5(PCCB):c.554C>G (p.Thr185Arg)
|
rs369612150
|
|
NM_000532.5(PCCB):c.565G>A (p.Val189Ile)
|
rs2108181880
|
|
NM_000532.5(PCCB):c.571C>G (p.Pro191Ala)
|
|
|
NM_000532.5(PCCB):c.577A>C (p.Ile193Leu)
|
rs1212475120
|
|
NM_000532.5(PCCB):c.586A>G (p.Ile196Val)
|
|
|
NM_000532.5(PCCB):c.58G>A (p.Gly20Ser)
|
rs777726717
|
|
NM_000532.5(PCCB):c.58G>T (p.Gly20Cys)
|
|
|
NM_000532.5(PCCB):c.590T>C (p.Met197Thr)
|
|
|
NM_000532.5(PCCB):c.596C>T (p.Pro199Leu)
|
|
|
NM_000532.5(PCCB):c.5C>A (p.Ala2Glu)
|
|
|
NM_000532.5(PCCB):c.5C>T (p.Ala2Val)
|
|
|
NM_000532.5(PCCB):c.620C>T (p.Ser207Phe)
|
rs1553777582
|
|
NM_000532.5(PCCB):c.634G>A (p.Asp212Asn)
|
|
|
NM_000532.5(PCCB):c.641C>G (p.Thr214Arg)
|
rs375740942
|
|
NM_000532.5(PCCB):c.649G>A (p.Val217Ile)
|
rs2108182134
|
|
NM_000532.5(PCCB):c.64C>T (p.Arg22Cys)
|
|
|
NM_000532.5(PCCB):c.652A>C (p.Lys218Gln)
|
|
|
NM_000532.5(PCCB):c.652A>G (p.Lys218Glu)
|
|
|
NM_000532.5(PCCB):c.655-3C>G
|
|
|
NM_000532.5(PCCB):c.68C>T (p.Ala23Val)
|
|
|
NM_000532.5(PCCB):c.703A>G (p.Thr235Ala)
|
|
|
NM_000532.5(PCCB):c.714T>A (p.Asp238Glu)
|
|
|
NM_000532.5(PCCB):c.716T>A (p.Val239Asp)
|
|
|
NM_000532.5(PCCB):c.722A>T (p.Gln241Leu)
|
|
|
NM_000532.5(PCCB):c.730C>A (p.Leu244Ile)
|
|
|
NM_000532.5(PCCB):c.734GTG[1] (p.Gly246del)
|
rs1553778892
|
|
NM_000532.5(PCCB):c.73G>A (p.Val25Ile)
|
|
|
NM_000532.5(PCCB):c.742A>C (p.Lys248Gln)
|
|
|
NM_000532.5(PCCB):c.751A>G (p.Thr251Ala)
|
|
|
NM_000532.5(PCCB):c.756_758del (p.Met253del)
|
|
|
NM_000532.5(PCCB):c.757A>G (p.Met253Val)
|
|
|
NM_000532.5(PCCB):c.769G>A (p.Ala257Thr)
|
rs1197317905
|
|
NM_000532.5(PCCB):c.793G>A (p.Val265Ile)
|
|
|
NM_000532.5(PCCB):c.799G>T (p.Ala267Ser)
|
|
|
NM_000532.5(PCCB):c.808A>G (p.Asn270Asp)
|
|
|
NM_000532.5(PCCB):c.809A>G (p.Asn270Ser)
|
rs1234137372
|
|
NM_000532.5(PCCB):c.811C>T (p.Leu271Phe)
|
|
|
NM_000532.5(PCCB):c.819T>G (p.Asp273Glu)
|
|
|
NM_000532.5(PCCB):c.821T>A (p.Phe274Tyr)
|
|
|
NM_000532.5(PCCB):c.821T>C (p.Phe274Ser)
|
|
|
NM_000532.5(PCCB):c.82C>T (p.Leu28Phe)
|
|
|
NM_000532.5(PCCB):c.830A>G (p.Tyr277Cys)
|
|
|
NM_000532.5(PCCB):c.830A>T (p.Tyr277Phe)
|
rs2108202806
|
|
NM_000532.5(PCCB):c.854C>T (p.Pro285Leu)
|
|
|
NM_000532.5(PCCB):c.865C>A (p.Arg289Ser)
|
rs771935604
|
|
NM_000532.5(PCCB):c.866G>A (p.Arg289His)
|
rs532142254
|
|
NM_000532.5(PCCB):c.866G>C (p.Arg289Pro)
|
|
|
NM_000532.5(PCCB):c.875A>G (p.His292Arg)
|
rs2108202909
|
|
NM_000532.5(PCCB):c.877G>A (p.Asp293Asn)
|
rs183013046
|
|
NM_000532.5(PCCB):c.885-3A>C
|
|
|
NM_000532.5(PCCB):c.885-6C>G
|
|
|
NM_000532.5(PCCB):c.88A>G (p.Ser30Gly)
|
|
|
NM_000532.5(PCCB):c.890G>T (p.Arg297Leu)
|
rs147379583
|
|
NM_000532.5(PCCB):c.913A>G (p.Ile305Val)
|
|
|
NM_000532.5(PCCB):c.919C>T (p.Pro307Ser)
|
|
|
NM_000532.5(PCCB):c.927A>C (p.Glu309Asp)
|
rs1934256655
|
|
NM_000532.5(PCCB):c.93_94insTTC (p.Gln31_Ala32insPhe)
|
rs2108127897
|
|
NM_000532.5(PCCB):c.941A>C (p.Tyr314Ser)
|
rs148578333
|
|
NM_000532.5(PCCB):c.946A>G (p.Met316Val)
|
|
|
NM_000532.5(PCCB):c.950T>G (p.Val317Gly)
|
|
|
NM_000532.5(PCCB):c.952G>T (p.Asp318Tyr)
|
|
|
NM_000532.5(PCCB):c.957C>G (p.Ile319Met)
|
rs868483670
|
|
NM_000532.5(PCCB):c.95C>T (p.Ala32Val)
|
rs2108127907
|
|
NM_000532.5(PCCB):c.965C>T (p.Ser322Phe)
|
rs1034824113
|
|
NM_000532.5(PCCB):c.966+5G>A
|
rs1255284441
|
|
NM_000532.5(PCCB):c.972TGA[1] (p.Asp325del)
|
rs796052023
|
|
NM_000532.5(PCCB):c.979C>G (p.Arg327Gly)
|
|
|
NM_000532.5(PCCB):c.985T>G (p.Phe329Val)
|
|
|
NM_001017989.3(OPA3):c.464_467dup (p.Gln157fs)
|
rs1599947052
|
|
NM_001243279.3(ACSF3):c.1060C>T (p.Arg354Trp)
|
rs761084443
|
|
NM_001243279.3(ACSF3):c.1073C>T (p.Thr358Ile)
|
rs387907120
|
|
NM_001243279.3(ACSF3):c.110T>A (p.Val37Glu)
|
|
|
NM_001243279.3(ACSF3):c.1117C>G (p.Arg373Gly)
|
rs144907664
|
|
NM_001243279.3(ACSF3):c.1117C>T (p.Arg373Cys)
|
|
|
NM_001243279.3(ACSF3):c.1121T>C (p.Leu374Pro)
|
rs1904713918
|
|
NM_001243279.3(ACSF3):c.1126+5G>A
|
|
|
NM_001243279.3(ACSF3):c.1126+5G>C
|
|
|
NM_001243279.3(ACSF3):c.1162C>T (p.Arg388Cys)
|
|
|
NM_001243279.3(ACSF3):c.11A>G (p.His4Arg)
|
|
|
NM_001243279.3(ACSF3):c.1280T>C (p.Val427Ala)
|
|
|
NM_001243279.3(ACSF3):c.1301G>C (p.Arg434Pro)
|
rs137995833
|
|
NM_001243279.3(ACSF3):c.1385_1407delinsCGGAT (p.Lys462_Arg469delinsThrAsp)
|
|
|
NM_001243279.3(ACSF3):c.1402A>C (p.Ile468Leu)
|
|
|
NM_001243279.3(ACSF3):c.1465G>T (p.Val489Leu)
|
rs377596983
|
|
NM_001243279.3(ACSF3):c.1494C>G (p.Ser498Arg)
|
|
|
NM_001243279.3(ACSF3):c.1500A>G (p.Thr500=)
|
|
|
NM_001243279.3(ACSF3):c.1501+4C>T
|
|
|
NM_001243279.3(ACSF3):c.1516G>A (p.Gly506Arg)
|
|
|
NM_001243279.3(ACSF3):c.1535G>T (p.Trp512Leu)
|
rs1450563045
|
|
NM_001243279.3(ACSF3):c.1555G>A (p.Val519Met)
|
|
|
NM_001243279.3(ACSF3):c.159T>G (p.Phe53Leu)
|
|
|
NM_001243279.3(ACSF3):c.1607G>C (p.Trp536Ser)
|
rs779820462
|
|
NM_001243279.3(ACSF3):c.1618G>C (p.Val540Leu)
|
rs570670205
|
|
NM_001243279.3(ACSF3):c.1711A>G (p.Arg571Gly)
|
rs1448355025
|
|
NM_001243279.3(ACSF3):c.1715A>C (p.His572Pro)
|
|
|
NM_001243279.3(ACSF3):c.1720del (p.His574fs)
|
|
|
NM_001243279.3(ACSF3):c.198C>G (p.His66Gln)
|
|
|
NM_001243279.3(ACSF3):c.200C>T (p.Thr67Met)
|
|
|
NM_001243279.3(ACSF3):c.217T>C (p.Ser73Pro)
|
|
|
NM_001243279.3(ACSF3):c.220C>T (p.Arg74Cys)
|
|
|
NM_001243279.3(ACSF3):c.243G>C (p.Glu81Asp)
|
|
|
NM_001243279.3(ACSF3):c.251G>A (p.Arg84Lys)
|
rs373476048
|
|
NM_001243279.3(ACSF3):c.278T>G (p.Leu93Arg)
|
|
|
NM_001243279.3(ACSF3):c.280C>T (p.Arg94Trp)
|
rs530503915
|
|
NM_001243279.3(ACSF3):c.291G>C (p.Arg97Ser)
|
rs1299639090
|
|
NM_001243279.3(ACSF3):c.315_316delinsCT (p.Ala106Ser)
|
rs2151406892
|
|
NM_001243279.3(ACSF3):c.328G>A (p.Val110Met)
|
|
|
NM_001243279.3(ACSF3):c.32G>T (p.Arg11Leu)
|
rs781163359
|
|
NM_001243279.3(ACSF3):c.335A>C (p.Gln112Pro)
|
|
|
NM_001243279.3(ACSF3):c.371C>G (p.Pro124Arg)
|
rs1292276846
|
|
NM_001243279.3(ACSF3):c.399G>C (p.Gln133His)
|
rs370968781
|
|
NM_001243279.3(ACSF3):c.414C>G (p.Ile138Met)
|
|
|
NM_001243279.3(ACSF3):c.428G>T (p.Ser143Ile)
|
|
|
NM_001243279.3(ACSF3):c.44C>A (p.Ala15Asp)
|
|
|
NM_001243279.3(ACSF3):c.473C>T (p.Pro158Leu)
|
|
|
NM_001243279.3(ACSF3):c.49G>A (p.Ala17Thr)
|
|
|
NM_001243279.3(ACSF3):c.538G>C (p.Glu180Gln)
|
|
|
NM_001243279.3(ACSF3):c.541G>A (p.Glu181Lys)
|
rs1567685421
|
|
NM_001243279.3(ACSF3):c.557C>T (p.Pro186Leu)
|
rs376098216
|
|
NM_001243279.3(ACSF3):c.58C>T (p.Arg20Trp)
|
|
|
NM_001243279.3(ACSF3):c.623G>A (p.Arg208Lys)
|
|
|
NM_001243279.3(ACSF3):c.638T>C (p.Leu213Pro)
|
|
|
NM_001243279.3(ACSF3):c.671C>T (p.Thr224Ile)
|
|
|
NM_001243279.3(ACSF3):c.682C>G (p.His228Asp)
|
rs1597898108
|
|
NM_001243279.3(ACSF3):c.691G>A (p.Ala231Thr)
|
rs765454020
|
|
NM_001243279.3(ACSF3):c.709G>A (p.Val237Met)
|
|
|
NM_001243279.3(ACSF3):c.743A>G (p.His248Arg)
|
|
|
NM_001243279.3(ACSF3):c.746G>A (p.Gly249Asp)
|
|
|
NM_001243279.3(ACSF3):c.755A>G (p.Asn252Ser)
|
|
|
NM_001243279.3(ACSF3):c.755A>T (p.Asn252Ile)
|
|
|
NM_001243279.3(ACSF3):c.757G>A (p.Ala253Thr)
|
|
|
NM_001243279.3(ACSF3):c.758C>A (p.Ala253Glu)
|
|
|
NM_001243279.3(ACSF3):c.782G>C (p.Gly261Ala)
|
rs1277612080
|
|
NM_001243279.3(ACSF3):c.799A>G (p.Met267Val)
|
|
|
NM_001243279.3(ACSF3):c.845C>G (p.Ser282Cys)
|
|
|
NM_001243279.3(ACSF3):c.851C>T (p.Thr284Met)
|
|
|
NM_001243279.3(ACSF3):c.856C>T (p.Arg286Trp)
|
|
|
NM_001243279.3(ACSF3):c.862A>G (p.Asn288Asp)
|
|
|
NM_001243279.3(ACSF3):c.880C>T (p.Pro294Ser)
|
|
|
NM_001243279.3(ACSF3):c.915C>G (p.Asp305Glu)
|
|
|
NM_001243279.3(ACSF3):c.91C>T (p.Leu31Phe)
|
rs1975195262
|
|
NM_001243279.3(ACSF3):c.92T>C (p.Leu31Pro)
|
|
|
NM_001243279.3(ACSF3):c.952C>A (p.Arg318Ser)
|
|
|
NM_001243279.3(ACSF3):c.952C>T (p.Arg318Cys)
|
|
|
NM_001258392.3(CLPB):c.1008T>G (p.Asn336Lys)
|
rs2135512797
|
|
NM_001258392.3(CLPB):c.1024G>A (p.Glu342Lys)
|
|
|
NM_001258392.3(CLPB):c.1027C>T (p.His343Tyr)
|
|
|
NM_001258392.3(CLPB):c.1067-3T>C
|
|
|
NM_001258392.3(CLPB):c.1094C>A (p.Ala365Asp)
|
|
|
NM_001258392.3(CLPB):c.109G>C (p.Val37Leu)
|
rs773901608
|
|
NM_001258392.3(CLPB):c.1102A>G (p.Met368Val)
|
|
|
NM_001258392.3(CLPB):c.1123-3C>A
|
|
|
NM_001258392.3(CLPB):c.1147G>A (p.Glu383Lys)
|
rs1949671839
|
|
NM_001258392.3(CLPB):c.1164C>G (p.His388Gln)
|
rs202009794
|
|
NM_001258392.3(CLPB):c.1167+3G>T
|
|
|
NM_001258392.3(CLPB):c.1168-3C>G
|
|
|
NM_001258392.3(CLPB):c.1181T>C (p.Ile394Thr)
|
|
|
NM_001258392.3(CLPB):c.1184G>A (p.Gly395Glu)
|
|
|
NM_001258392.3(CLPB):c.1201G>A (p.Val401Ile)
|
|
|
NM_001258392.3(CLPB):c.1202T>C (p.Val401Ala)
|
rs138691107
|
|
NM_001258392.3(CLPB):c.1205G>C (p.Gly402Ala)
|
|
|
NM_001258392.3(CLPB):c.1214A>T (p.Glu405Val)
|
rs1590764241
|
|
NM_001258392.3(CLPB):c.1252A>C (p.Asn418His)
|
|
|
NM_001258392.3(CLPB):c.1283A>G (p.Lys428Arg)
|
|
|
NM_001258392.3(CLPB):c.1291C>T (p.Pro431Ser)
|
|
|
NM_001258392.3(CLPB):c.1297G>A (p.Val433Met)
|
|
|
NM_001258392.3(CLPB):c.1300C>T (p.Leu434Phe)
|
rs758030499
|
|
NM_001258392.3(CLPB):c.131A>C (p.Glu44Ala)
|
|
|
NM_001258392.3(CLPB):c.1409A>G (p.Asp470Gly)
|
rs1365431764
|
|
NM_001258392.3(CLPB):c.1413G>C (p.Glu471Asp)
|
rs780612425
|
|
NM_001258392.3(CLPB):c.1417G>A (p.Ala473Thr)
|
|
|
NM_001258392.3(CLPB):c.142C>G (p.Leu48Val)
|
rs1856650498
|
|
NM_001258392.3(CLPB):c.1453G>A (p.Glu485Lys)
|
rs143522576
|
|
NM_001258392.3(CLPB):c.1482C>G (p.Asn494Lys)
|
rs779812366
|
|
NM_001258392.3(CLPB):c.1484T>C (p.Leu495Pro)
|
|
|
NM_001258392.3(CLPB):c.1485G>A (p.Leu495=)
|
rs1949534031
|
|
NM_001258392.3(CLPB):c.1489G>A (p.Asp497Asn)
|
|
|
NM_001258392.3(CLPB):c.1489G>C (p.Asp497His)
|
rs918777173
|
|
NM_001258392.3(CLPB):c.148G>T (p.Val50Leu)
|
|
|
NM_001258392.3(CLPB):c.1492G>A (p.Val498Ile)
|
rs2135486440
|
|
NM_001258392.3(CLPB):c.1495C>A (p.Gln499Lys)
|
|
|
NM_001258392.3(CLPB):c.1497G>C (p.Gln499His)
|
rs577566573
|
|
NM_001258392.3(CLPB):c.1514C>G (p.Thr505Ser)
|
rs200812003
|
|
NM_001258392.3(CLPB):c.1514C>T (p.Thr505Ile)
|
rs200812003
|
|
NM_001258392.3(CLPB):c.1530C>G (p.Phe510Leu)
|
rs778078736
|
|
NM_001258392.3(CLPB):c.1552A>C (p.Ile518Leu)
|
|
|
NM_001258392.3(CLPB):c.1552A>G (p.Ile518Val)
|
rs1949516441
|
|
NM_001258392.3(CLPB):c.1574G>A (p.Arg525Lys)
|
|
|
NM_001258392.3(CLPB):c.1579G>A (p.Glu527Lys)
|
rs1590753263
|
|
NM_001258392.3(CLPB):c.157G>A (p.Gly53Arg)
|
|
|
NM_001258392.3(CLPB):c.157G>T (p.Gly53Trp)
|
|
|
NM_001258392.3(CLPB):c.158G>C (p.Gly53Ala)
|
|
|
NM_001258392.3(CLPB):c.1592G>A (p.Arg531Gln)
|
rs1590753221
|
|
NM_001258392.3(CLPB):c.1598A>G (p.Asn533Ser)
|
|
|
NM_001258392.3(CLPB):c.1610A>C (p.Tyr537Ser)
|
rs150857620
|
|
NM_001258392.3(CLPB):c.1610A>T (p.Tyr537Phe)
|
|
|
NM_001258392.3(CLPB):c.1631C>G (p.Ser544Trp)
|
rs1430716011
|
|
NM_001258392.3(CLPB):c.1632G>A (p.Ser544=)
|
|
|
NM_001258392.3(CLPB):c.1640T>C (p.Ile547Thr)
|
|
|
NM_001258392.3(CLPB):c.1648G>A (p.Val550Ile)
|
|
|
NM_001258392.3(CLPB):c.1677G>T (p.Lys559Asn)
|
rs2135485638
|
|
NM_001258392.3(CLPB):c.1680+2dup
|
|
|
NM_001258392.3(CLPB):c.1680+6A>C
|
rs1949509457
|
|
NM_001258392.3(CLPB):c.1681-3C>T
|
|
|
NM_001258392.3(CLPB):c.1718G>C (p.Arg573Pro)
|
rs765245566
|
|
NM_001258392.3(CLPB):c.1720G>A (p.Glu574Lys)
|
|
|
NM_001258392.3(CLPB):c.1727C>G (p.Ala576Gly)
|
|
|
NM_001258392.3(CLPB):c.1750A>G (p.Asn584Asp)
|
|
|
NM_001258392.3(CLPB):c.1758C>G (p.His586Gln)
|
rs2135484836
|
|
NM_001258392.3(CLPB):c.1768C>T (p.Arg590Cys)
|
rs2135484821
|
|
NM_001258392.3(CLPB):c.1795C>T (p.Arg599Cys)
|
rs369227883
|
|
NM_001258392.3(CLPB):c.1799T>C (p.Val600Ala)
|
|
|
NM_001258392.3(CLPB):c.17T>A (p.Val6Glu)
|
|
|
NM_001258392.3(CLPB):c.1817C>T (p.Ala606Val)
|
|
|
NM_001258392.3(CLPB):c.1823A>G (p.Tyr608Cys)
|
|
|
NM_001258392.3(CLPB):c.182C>T (p.Ala61Val)
|
rs767517671
|
|
NM_001258392.3(CLPB):c.1832A>T (p.Asp611Val)
|
rs767839493
|
|
NM_001258392.3(CLPB):c.1847G>C (p.Gly616Ala)
|
rs759500860
|
|
NM_001258392.3(CLPB):c.1858C>T (p.Arg620Cys)
|
|
|
NM_001258392.3(CLPB):c.1859G>A (p.Arg620His)
|
rs137882645
|
|
NM_001258392.3(CLPB):c.1859G>T (p.Arg620Leu)
|
rs137882645
|
|
NM_001258392.3(CLPB):c.1861A>G (p.Ile621Val)
|
rs755357754
|
|
NM_001258392.3(CLPB):c.1909C>T (p.Pro637Ser)
|
|
|
NM_001258392.3(CLPB):c.1910C>G (p.Pro637Arg)
|
|
|
NM_001258392.3(CLPB):c.1920G>C (p.Gln640His)
|
|
|
NM_001258392.3(CLPB):c.1930C>T (p.Arg644Cys)
|
|
|
NM_001258392.3(CLPB):c.1931G>A (p.Arg644His)
|
|
|
NM_001258392.3(CLPB):c.193G>A (p.Gly65Arg)
|
rs368496010
|
|
NM_001258392.3(CLPB):c.193G>C (p.Gly65Arg)
|
|
|
NM_001258392.3(CLPB):c.1940A>G (p.Lys647Arg)
|
|
|
NM_001258392.3(CLPB):c.1945C>T (p.Arg649Cys)
|
|
|
NM_001258392.3(CLPB):c.1959C>G (p.Ile653Met)
|
|
|
NM_001258392.3(CLPB):c.1960G>A (p.Asp654Asn)
|
|
|
NM_001258392.3(CLPB):c.1972A>G (p.Lys658Glu)
|
|
|
NM_001258392.3(CLPB):c.1976C>G (p.Thr659Ser)
|
|
|
NM_001258392.3(CLPB):c.1981A>G (p.Arg661Gly)
|
rs2135483452
|
|
NM_001258392.3(CLPB):c.2009_2010del (p.Pro670fs)
|
|
|
NM_001258392.3(CLPB):c.2021G>A (p.Cys674Tyr)
|
|
|
NM_001258392.3(CLPB):c.2021G>T (p.Cys674Phe)
|
rs372096809
|
|
NM_001258392.3(CLPB):c.2023_*4del (p.Asn675fs)
|
rs1362604874
|
|
NM_001258392.3(CLPB):c.202G>A (p.Ala68Thr)
|
|
|
NM_001258392.3(CLPB):c.2033A>G (p.Ter678Trp)
|
rs1949484806
|
|
NM_001258392.3(CLPB):c.2034del (p.Ter678TyrextTer?)
|
|
|
NM_001258392.3(CLPB):c.203C>A (p.Ala68Glu)
|
rs746191886
|
|
NM_001258392.3(CLPB):c.209C>A (p.Thr70Asn)
|
|
|
NM_001258392.3(CLPB):c.211G>T (p.Gly71Trp)
|
|
|
NM_001258392.3(CLPB):c.212G>A (p.Gly71Glu)
|
|
|
NM_001258392.3(CLPB):c.217C>A (p.Arg73Ser)
|
|
|
NM_001258392.3(CLPB):c.229C>G (p.Arg77Gly)
|
|
|
NM_001258392.3(CLPB):c.230G>C (p.Arg77Pro)
|
|
|
NM_001258392.3(CLPB):c.242A>G (p.Lys81Arg)
|
rs1293473561
|
|
NM_001258392.3(CLPB):c.253G>A (p.Ala85Thr)
|
|
|
NM_001258392.3(CLPB):c.256_261del (p.Ala86_Thr87del)
|
rs1565108155
|
|
NM_001258392.3(CLPB):c.257C>T (p.Ala86Val)
|
rs2135181668
|
|
NM_001258392.3(CLPB):c.260C>T (p.Thr87Ile)
|
rs1424542665
|
|
NM_001258392.3(CLPB):c.271C>T (p.Leu91Phe)
|
|
|
NM_001258392.3(CLPB):c.278G>A (p.Gly93Asp)
|
|
|
NM_001258392.3(CLPB):c.278G>C (p.Gly93Ala)
|
|
|
NM_001258392.3(CLPB):c.325A>G (p.Ser109Gly)
|
rs1856636073
|
|
NM_001258392.3(CLPB):c.328A>G (p.Arg110Gly)
|
|
|
NM_001258392.3(CLPB):c.343A>C (p.Met115Leu)
|
|
|
NM_001258392.3(CLPB):c.343A>G (p.Met115Val)
|
rs755190312
|
|
NM_001258392.3(CLPB):c.34C>G (p.Leu12Val)
|
|
|
NM_001258392.3(CLPB):c.350C>T (p.Ala117Val)
|
rs563749368
|
|
NM_001258392.3(CLPB):c.354_355delinsCT (p.Ala119Ser)
|
|
|
NM_001258392.3(CLPB):c.361G>A (p.Ala121Thr)
|
|
|
NM_001258392.3(CLPB):c.361G>T (p.Ala121Ser)
|
|
|
NM_001258392.3(CLPB):c.373C>G (p.His125Asp)
|
|
|
NM_001258392.3(CLPB):c.380A>G (p.Tyr127Cys)
|
|
|
NM_001258392.3(CLPB):c.384C>A (p.Ser128Arg)
|
rs745934487
|
|
NM_001258392.3(CLPB):c.391C>A (p.Pro131Thr)
|
|
|
NM_001258392.3(CLPB):c.395C>T (p.Ser132Phe)
|
|
|
NM_001258392.3(CLPB):c.403+6T>C
|
rs944669671
|
|
NM_001258392.3(CLPB):c.403G>A (p.Asp135Asn)
|
|
|
NM_001258392.3(CLPB):c.406G>A (p.Ala136Thr)
|
|
|
NM_001258392.3(CLPB):c.413T>C (p.Leu138Pro)
|
rs1384482038
|
|
NM_001258392.3(CLPB):c.419A>C (p.Glu140Ala)
|
|
|
NM_001258392.3(CLPB):c.41C>T (p.Pro14Leu)
|
rs1194145425
|
|
NM_001258392.3(CLPB):c.422C>T (p.Ala141Val)
|
rs1219520636
|
|
NM_001258392.3(CLPB):c.427C>A (p.Arg143Ser)
|
|
|
NM_001258392.3(CLPB):c.428G>A (p.Arg143His)
|
|
|
NM_001258392.3(CLPB):c.451A>G (p.Ser151Gly)
|
|
|
NM_001258392.3(CLPB):c.452G>A (p.Ser151Asn)
|
|
|
NM_001258392.3(CLPB):c.455G>A (p.Arg152Lys)
|
|
|
NM_001258392.3(CLPB):c.491A>C (p.His164Pro)
|
|
|
NM_001258392.3(CLPB):c.491A>G (p.His164Arg)
|
|
|
NM_001258392.3(CLPB):c.497T>G (p.Leu166Arg)
|
rs2135083426
|
|
NM_001258392.3(CLPB):c.50T>G (p.Leu17Arg)
|
|
|
NM_001258392.3(CLPB):c.517G>A (p.Val173Met)
|
|
|
NM_001258392.3(CLPB):c.533G>A (p.Arg178Gln)
|
|
|
NM_001258392.3(CLPB):c.538A>G (p.Asn180Asp)
|
|
|
NM_001258392.3(CLPB):c.539A>G (p.Asn180Ser)
|
|
|
NM_001258392.3(CLPB):c.546G>A (p.Val182=)
|
rs1854871823
|
|
NM_001258392.3(CLPB):c.547G>A (p.Val183Ile)
|
|
|
NM_001258392.3(CLPB):c.553G>C (p.Val185Leu)
|
|
|
NM_001258392.3(CLPB):c.56G>A (p.Arg19Gln)
|
rs1856655686
|
|
NM_001258392.3(CLPB):c.578C>T (p.Pro193Leu)
|
rs2135677270
|
|
NM_001258392.3(CLPB):c.599G>A (p.Ser200Asn)
|
|
|
NM_001258392.3(CLPB):c.665A>G (p.Asp222Gly)
|
|
|
NM_001258392.3(CLPB):c.680G>T (p.Arg227Met)
|
rs1284671735
|
|
NM_001258392.3(CLPB):c.689A>T (p.Asn230Ile)
|
|
|
NM_001258392.3(CLPB):c.694G>C (p.Ala232Pro)
|
|
|
NM_001258392.3(CLPB):c.709T>G (p.Cys237Gly)
|
|
|
NM_001258392.3(CLPB):c.715G>A (p.Ala239Thr)
|
rs886041117
|
|
NM_001258392.3(CLPB):c.725A>G (p.Tyr242Cys)
|
rs777313457
|
|
NM_001258392.3(CLPB):c.733C>G (p.Leu245Val)
|
|
|
NM_001258392.3(CLPB):c.748C>T (p.Arg250Cys)
|
rs146762466
|
|
NM_001258392.3(CLPB):c.749G>A (p.Arg250His)
|
|
|
NM_001258392.3(CLPB):c.760_761inv (p.Glu254Ser)
|
|
|
NM_001258392.3(CLPB):c.764T>C (p.Leu255Pro)
|
rs1555098495
|
|
NM_001258392.3(CLPB):c.782A>T (p.Asn261Ile)
|
|
|
NM_001258392.3(CLPB):c.784C>A (p.Pro262Thr)
|
|
|
NM_001258392.3(CLPB):c.79C>T (p.Arg27Trp)
|
|
|
NM_001258392.3(CLPB):c.806G>T (p.Gly269Val)
|
rs1390365704
|
|
NM_001258392.3(CLPB):c.812C>G (p.Thr271Arg)
|
rs757880862
|
|
NM_001258392.3(CLPB):c.839A>C (p.Glu280Ala)
|
|
|
NM_001258392.3(CLPB):c.850C>T (p.Leu284Phe)
|
|
|
NM_001258392.3(CLPB):c.860C>T (p.Thr287Ile)
|
rs1318523407
|
|
NM_001258392.3(CLPB):c.877C>A (p.Gln293Lys)
|
rs1949961706
|
|
NM_001258392.3(CLPB):c.886C>G (p.Gln296Glu)
|
|
|
NM_001258392.3(CLPB):c.88G>A (p.Gly30Arg)
|
|
|
NM_001258392.3(CLPB):c.896G>C (p.Arg299Pro)
|
rs547532550
|
|
NM_001258392.3(CLPB):c.896G>T (p.Arg299Leu)
|
|
|
NM_001258392.3(CLPB):c.905A>G (p.Glu302Gly)
|
rs745539947
|
|
NM_001258392.3(CLPB):c.908A>T (p.Glu303Val)
|
rs144712077
|
|
NM_001258392.3(CLPB):c.917G>A (p.Arg306His)
|
|
|
NM_001258392.3(CLPB):c.925C>G (p.Leu309Val)
|
rs941057831
|
|
NM_001258392.3(CLPB):c.937C>G (p.Leu313Val)
|
|
|
NM_001258392.3(CLPB):c.949A>G (p.Ile317Val)
|
rs1590786067
|
|
NM_001258392.3(CLPB):c.95C>T (p.Ala32Val)
|
|
|
NM_001258392.3(CLPB):c.967G>T (p.Ala323Ser)
|
|
|
NM_001258392.3(CLPB):c.971T>A (p.Ile324Asn)
|
|
|
NM_001258392.3(CLPB):c.973G>A (p.Ala325Thr)
|
|
|
NM_001258392.3(CLPB):c.983G>A (p.Gly328Asp)
|
rs1565433670
|
|
NM_001258392.3(CLPB):c.988G>A (p.Ala330Thr)
|
rs2135527446
|
|
NM_001258392.3(CLPB):c.989C>G (p.Ala330Gly)
|
rs144942416
|
|
NM_001258392.3(CLPB):c.992T>C (p.Ile331Thr)
|
rs2135512844
|
|
NM_001258392.3(CLPB):c.995G>A (p.Arg332Gln)
|
|
|
NM_001352514.2(HLCS):c.1003G>A (p.Asp335Asn)
|
|
|
NM_001352514.2(HLCS):c.1030C>T (p.Leu344Phe)
|
|
|
NM_001352514.2(HLCS):c.1058T>C (p.Leu353Pro)
|
|
|
NM_001352514.2(HLCS):c.1081T>C (p.Cys361Arg)
|
|
|
NM_001352514.2(HLCS):c.1093G>T (p.Val365Phe)
|
rs1569216588
|
|
NM_001352514.2(HLCS):c.1102A>C (p.Thr368Pro)
|
|
|
NM_001352514.2(HLCS):c.1123G>C (p.Asp375His)
|
|
|
NM_001352514.2(HLCS):c.1132C>G (p.Gln378Glu)
|
|
|
NM_001352514.2(HLCS):c.1150C>A (p.Leu384Ile)
|
rs538157231
|
|
NM_001352514.2(HLCS):c.1233C>A (p.His411Gln)
|
rs1601802008
|
|
NM_001352514.2(HLCS):c.1264G>A (p.Ala422Thr)
|
|
|
NM_001352514.2(HLCS):c.1276G>A (p.Glu426Lys)
|
|
|
NM_001352514.2(HLCS):c.1295T>C (p.Leu432Ser)
|
|
|
NM_001352514.2(HLCS):c.1312T>C (p.Tyr438His)
|
|
|
NM_001352514.2(HLCS):c.1324C>G (p.Pro442Ala)
|
|
|
NM_001352514.2(HLCS):c.1342G>C (p.Gly448Arg)
|
|
|
NM_001352514.2(HLCS):c.1414G>A (p.Gly472Arg)
|
rs748444836
|
|
NM_001352514.2(HLCS):c.1414G>T (p.Gly472Trp)
|
|
|
NM_001352514.2(HLCS):c.1436A>G (p.Gln479Arg)
|
rs899013389
|
|
NM_001352514.2(HLCS):c.1438G>T (p.Val480Leu)
|
|
|
NM_001352514.2(HLCS):c.1535G>C (p.Arg512Thr)
|
|
|
NM_001352514.2(HLCS):c.1612G>A (p.Ala538Thr)
|
|
|
NM_001352514.2(HLCS):c.1631A>T (p.Asp544Val)
|
|
|
NM_001352514.2(HLCS):c.1658A>G (p.His553Arg)
|
rs2146336242
|
|
NM_001352514.2(HLCS):c.1685C>A (p.Ser562Tyr)
|
rs770873445
|
|
NM_001352514.2(HLCS):c.1697C>G (p.Ser566Cys)
|
|
|
NM_001352514.2(HLCS):c.1741C>T (p.Pro581Ser)
|
|
|
NM_001352514.2(HLCS):c.1774G>A (p.Ala592Thr)
|
rs987805504
|
|
NM_001352514.2(HLCS):c.1856C>G (p.Ala619Gly)
|
rs767190021
|
|
NM_001352514.2(HLCS):c.1879C>T (p.Arg627Cys)
|
|
|
NM_001352514.2(HLCS):c.1880G>A (p.Arg627His)
|
|
|
NM_001352514.2(HLCS):c.1909C>T (p.Pro637Ser)
|
rs2145777265
|
|
NM_001352514.2(HLCS):c.1920G>A (p.Met640Ile)
|
rs2145777174
|
|
NM_001352514.2(HLCS):c.1922G>T (p.Gly641Val)
|
rs1173267062
|
|
NM_001352514.2(HLCS):c.1936G>A (p.Ala646Thr)
|
|
|
NM_001352514.2(HLCS):c.1937C>T (p.Ala646Val)
|
|
|
NM_001352514.2(HLCS):c.1942C>T (p.Arg648Trp)
|
|
|
NM_001352514.2(HLCS):c.1954G>C (p.Gly652Arg)
|
rs1555885056
|
|
NM_001352514.2(HLCS):c.1967G>A (p.Gly656Glu)
|
|
|
NM_001352514.2(HLCS):c.1970G>C (p.Gly657Ala)
|
|
|
NM_001352514.2(HLCS):c.2057C>T (p.Pro686Leu)
|
|
|
NM_001352514.2(HLCS):c.2080G>A (p.Val694Met)
|
|
|
NM_001352514.2(HLCS):c.2087T>C (p.Val696Ala)
|
|
|
NM_001352514.2(HLCS):c.2203A>G (p.Thr735Ala)
|
rs2089755704
|
|
NM_001352514.2(HLCS):c.2210T>C (p.Met737Thr)
|
|
|
NM_001352514.2(HLCS):c.2215G>A (p.Glu739Lys)
|
|
|
NM_001352514.2(HLCS):c.2230C>T (p.Leu744Phe)
|
|
|
NM_001352514.2(HLCS):c.2246T>G (p.Phe749Cys)
|
|
|
NM_001352514.2(HLCS):c.2251G>A (p.Val751Met)
|
rs1555882115
|
|
NM_001352514.2(HLCS):c.2267C>G (p.Pro756Arg)
|
rs1601100788
|
|
NM_001352514.2(HLCS):c.2268_2270del (p.Thr757del)
|
rs1555882090
|
|
NM_001352514.2(HLCS):c.2291T>A (p.Ile764Asn)
|
rs2145731806
|
|
NM_001352514.2(HLCS):c.2330C>T (p.Pro777Leu)
|
|
|
NM_001352514.2(HLCS):c.2347C>G (p.Leu783Val)
|
|
|
NM_001352514.2(HLCS):c.2360T>C (p.Val787Ala)
|
|
|
NM_001352514.2(HLCS):c.2368G>A (p.Val790Met)
|
|
|
NM_001352514.2(HLCS):c.2413A>G (p.Ser805Gly)
|
rs755620019
|
|
NM_001352514.2(HLCS):c.2450+1_2450+2del
|
rs2089602804
|
|
NM_001352514.2(HLCS):c.2450+4A>G
|
|
|
NM_001352514.2(HLCS):c.2460A>C (p.Gln820His)
|
|
|
NM_001352514.2(HLCS):c.2476G>T (p.Ala826Ser)
|
rs376898721
|
|
NM_001352514.2(HLCS):c.2495C>T (p.Ser832Phe)
|
|
|
NM_001352514.2(HLCS):c.2501T>C (p.Val834Ala)
|
rs2123556320
|
|
NM_001352514.2(HLCS):c.2501_2503dup (p.Val834dup)
|
rs773191073
|
|
NM_001352514.2(HLCS):c.2551G>A (p.Val851Ile)
|
|
|
NM_001352514.2(HLCS):c.2572G>A (p.Gly858Ser)
|
|
|
NM_001352514.2(HLCS):c.2581T>G (p.Phe861Val)
|
|
|
NM_001352514.2(HLCS):c.2605C>T (p.Leu869Phe)
|
|
|
NM_001352514.2(HLCS):c.2614C>T (p.Arg872Trp)
|
|
|
NM_001352514.2(HLCS):c.2618G>A (p.Arg873Gln)
|
|
|
NM_001352514.2(HLCS):c.449A>G (p.Asp150Gly)
|
rs761490181
|
|
NM_001352514.2(HLCS):c.458A>G (p.His153Arg)
|
|
|
NM_001352514.2(HLCS):c.460A>G (p.Met154Val)
|
|
|
NM_001352514.2(HLCS):c.463G>A (p.Asp155Asn)
|
|
|
NM_001352514.2(HLCS):c.481C>G (p.Gln161Glu)
|
|
|
NM_001352514.2(HLCS):c.485A>C (p.Lys162Thr)
|
|
|
NM_001352514.2(HLCS):c.489T>G (p.Ile163Met)
|
rs886057079
|
|
NM_001352514.2(HLCS):c.491T>C (p.Val164Ala)
|
rs2146535803
|
|
NM_001352514.2(HLCS):c.495G>A (p.Ser165=)
|
rs1254077652
|
|
NM_001352514.2(HLCS):c.497T>C (p.Val166Ala)
|
|
|
NM_001352514.2(HLCS):c.503T>G (p.Leu168Trp)
|
|
|
NM_001352514.2(HLCS):c.504G>T (p.Leu168Phe)
|
|
|
NM_001352514.2(HLCS):c.526G>C (p.Val176Leu)
|
|
|
NM_001352514.2(HLCS):c.581C>T (p.Pro194Leu)
|
rs565756796
|
|
NM_001352514.2(HLCS):c.586C>T (p.Leu196Phe)
|
|
|
NM_001352514.2(HLCS):c.599C>T (p.Pro200Leu)
|
|
|
NM_001352514.2(HLCS):c.809C>T (p.Ala270Val)
|
|
|
NM_001352514.2(HLCS):c.832C>T (p.Leu278Phe)
|
|
|
NM_001352514.2(HLCS):c.853A>G (p.Ser285Gly)
|
|
|
NM_001352514.2(HLCS):c.908A>T (p.Asn303Ile)
|
rs912685138
|
|
NM_001352514.2(HLCS):c.909C>A (p.Asn303Lys)
|
|
|
NM_001352514.2(HLCS):c.919A>G (p.Lys307Glu)
|
|
|
NM_001352514.2(HLCS):c.946G>T (p.Gly316Cys)
|
|
|
NM_001352514.2(HLCS):c.952G>A (p.Asp318Asn)
|
|
|
NM_001352514.2(HLCS):c.989G>C (p.Arg330Pro)
|
rs368754318
|
|
NM_001370658.1(BTD):c.-16-2A>G
|
|
|
NM_001370658.1(BTD):c.-17+19_-17+39del
|
rs1559571027
|
|
NM_001370658.1(BTD):c.-18A>G
|
|
|
NM_001370658.1(BTD):c.-51G>T
|
|
|
NM_001370658.1(BTD):c.1001C>T (p.Thr334Met)
|
|
|
NM_001370658.1(BTD):c.1068G>C (p.Gln356His)
|
|
|
NM_001370658.1(BTD):c.1076A>G (p.His359Arg)
|
rs763540316
|
|
NM_001370658.1(BTD):c.1102G>A (p.Val368Met)
|
|
|
NM_001370658.1(BTD):c.1116_1118del (p.Thr373del)
|
rs2065654912
|
|
NM_001370658.1(BTD):c.113A>G (p.Tyr38Cys)
|
|
|
NM_001370658.1(BTD):c.1177G>A (p.Gly393Ser)
|
rs374141881
|
|
NM_001370658.1(BTD):c.1177G>C (p.Gly393Arg)
|
|
|
NM_001370658.1(BTD):c.1190_1191delinsAG (p.Val397Glu)
|
rs2125504798
|
|
NM_001370658.1(BTD):c.1199A>G (p.Asn400Ser)
|
|
|
NM_001370658.1(BTD):c.1205T>C (p.Leu402Pro)
|
rs2125504955
|
|
NM_001370658.1(BTD):c.1226A>C (p.Glu409Ala)
|
rs2125505114
|
|
NM_001370658.1(BTD):c.1264G>A (p.Val422Ile)
|
rs776369447
|
|
NM_001370658.1(BTD):c.1268T>A (p.Phe423Tyr)
|
|
|
NM_001370658.1(BTD):c.1286T>C (p.Val429Ala)
|
rs2065663213
|
|
NM_001370658.1(BTD):c.1289A>C (p.His430Pro)
|
rs559136372
|
|
NM_001370658.1(BTD):c.1298A>C (p.Tyr433Ser)
|
rs2125505641
|
|
NM_001370658.1(BTD):c.1325G>A (p.Arg442Lys)
|
rs2125505856
|
|
NM_001370658.1(BTD):c.1346A>G (p.Asp449Gly)
|
|
|
NM_001370658.1(BTD):c.1376C>T (p.Thr459Met)
|
|
|
NM_001370658.1(BTD):c.1421A>G (p.Tyr474Cys)
|
rs750598655
|
|
NM_001370658.1(BTD):c.1456C>A (p.Leu486Ile)
|
rs774018881
|
|
NM_001370658.1(BTD):c.1468G>A (p.Asp490Asn)
|
|
|
NM_001370658.1(BTD):c.1496A>G (p.Tyr499Cys)
|
rs199859507
|
|
NM_001370658.1(BTD):c.14G>T (p.Arg5Ile)
|
|
|
NM_001370658.1(BTD):c.1522T>C (p.Ser508Pro)
|
|
|
NM_001370658.1(BTD):c.1538C>T (p.Ala513Val)
|
|
|
NM_001370658.1(BTD):c.179A>C (p.Gln60Pro)
|
rs2065326975
|
|
NM_001370658.1(BTD):c.187_195del (p.Leu63_Leu65del)
|
rs397514346
|
|
NM_001370658.1(BTD):c.249+5G>T
|
rs2065329555
|
|
NM_001370658.1(BTD):c.251A>G (p.Asp84Gly)
|
|
|
NM_001370658.1(BTD):c.271C>G (p.Pro91Ala)
|
rs1553653070
|
|
NM_001370658.1(BTD):c.286C>T (p.His96Tyr)
|
rs776422082
|
|
NM_001370658.1(BTD):c.33C>A (p.Phe11Leu)
|
|
|
NM_001370658.1(BTD):c.340T>C (p.Ser114Pro)
|
|
|
NM_001370658.1(BTD):c.347A>G (p.Gln116Arg)
|
|
|
NM_001370658.1(BTD):c.351_352delinsTT (p.Val118Phe)
|
|
|
NM_001370658.1(BTD):c.369C>G (p.Cys123Trp)
|
|
|
NM_001370658.1(BTD):c.373G>C (p.Glu125Gln)
|
|
|
NM_001370658.1(BTD):c.382C>G (p.Arg128Gly)
|
rs137877018
|
|
NM_001370658.1(BTD):c.416G>A (p.Ser139Asn)
|
rs144717999
|
|
NM_001370658.1(BTD):c.423G>A (p.Met141Ile)
|
|
|
NM_001370658.1(BTD):c.444C>A (p.Phe148Leu)
|
rs184742694
|
|
NM_001370658.1(BTD):c.449T>C (p.Val150Ala)
|
|
|
NM_001370658.1(BTD):c.490C>T (p.Pro164Ser)
|
|
|
NM_001370658.1(BTD):c.494G>A (p.Arg165Lys)
|
|
|
NM_001370658.1(BTD):c.506A>G (p.Asp169Gly)
|
rs139829181
|
|
NM_001370658.1(BTD):c.550G>A (p.Gly184Arg)
|
|
|
NM_001370658.1(BTD):c.719A>C (p.Asp240Ala)
|
|
|
NM_001370658.1(BTD):c.727G>T (p.Val243Leu)
|
|
|
NM_001370658.1(BTD):c.737T>A (p.Val246Asp)
|
|
|
NM_001370658.1(BTD):c.750_752delinsCTA (p.Ala251Tyr)
|
|
|
NM_001370658.1(BTD):c.765G>C (p.Gln255His)
|
|
|
NM_001370658.1(BTD):c.784A>T (p.Ile262Phe)
|
rs549204682
|
|
NM_001370658.1(BTD):c.795G>C (p.Gln265His)
|
rs1553653855
|
|
NM_001370658.1(BTD):c.817G>A (p.Gly273Ser)
|
rs762757117
|
|
NM_001370658.1(BTD):c.817G>C (p.Gly273Arg)
|
rs762757117
|
|
NM_001370658.1(BTD):c.825C>A (p.Asn275Lys)
|
|
|
NM_001370658.1(BTD):c.826G>A (p.Val276Ile)
|
|
|
NM_001370658.1(BTD):c.844C>T (p.His282Tyr)
|
rs398123142
|
|
NM_001370658.1(BTD):c.846C>G (p.His282Gln)
|
rs2125502649
|
|
NM_001370658.1(BTD):c.928A>C (p.Ser310Arg)
|
|
|
NM_001370658.1(BTD):c.941T>A (p.Ile314Asn)
|
rs397514433
|
|
NM_001370658.1(BTD):c.962C>T (p.Pro321Leu)
|
|
|
NM_001370658.1(BTD):c.965T>C (p.Val322Ala)
|
|
|
NM_001370658.1(BTD):c.968G>T (p.Gly323Val)
|
|
|
NM_001370658.1(BTD):c.982G>A (p.Glu328Lys)
|
|
|
NM_001609.4(ACADSB):c.1014C>G (p.His338Gln)
|
rs57339164
|
|
NM_001609.4(ACADSB):c.1033G>A (p.Ala345Thr)
|
|
|
NM_001609.4(ACADSB):c.1128+2_1128+3insTA
|
rs1554874107
|
|
NM_001609.4(ACADSB):c.1135G>A (p.Gly379Arg)
|
|
|
NM_001609.4(ACADSB):c.1178G>T (p.Gly393Val)
|
|
|
NM_001609.4(ACADSB):c.1229G>T (p.Gly410Val)
|
|
|
NM_001609.4(ACADSB):c.1255A>T (p.Ile419Phe)
|
|
|
NM_001609.4(ACADSB):c.1265A>C (p.Asn422Thr)
|
rs1430062937
|
|
NM_001609.4(ACADSB):c.13G>A (p.Ala5Thr)
|
rs2133445397
|
|
NM_001609.4(ACADSB):c.20G>T (p.Arg7Leu)
|
rs1179957829
|
|
NM_001609.4(ACADSB):c.334G>A (p.Gly112Arg)
|
rs1564751382
|
|
NM_001609.4(ACADSB):c.370G>A (p.Val124Met)
|
|
|
NM_001609.4(ACADSB):c.370G>C (p.Val124Leu)
|
rs375217368
|
|
NM_001609.4(ACADSB):c.421A>C (p.Ile141Leu)
|
rs753508431
|
|
NM_001609.4(ACADSB):c.42G>A (p.Leu14=)
|
rs745863047
|
|
NM_001609.4(ACADSB):c.436A>T (p.Ile146Phe)
|
|
|
NM_001609.4(ACADSB):c.541G>A (p.Ala181Thr)
|
|
|
NM_001609.4(ACADSB):c.542C>T (p.Ala181Val)
|
|
|
NM_001609.4(ACADSB):c.544G>T (p.Gly182Cys)
|
rs886046778
|
|
NM_001609.4(ACADSB):c.640G>A (p.Ala214Thr)
|
|
|
NM_001609.4(ACADSB):c.710T>C (p.Val237Ala)
|
|
|
NM_001609.4(ACADSB):c.736A>G (p.Ile246Val)
|
|
|
NM_001609.4(ACADSB):c.785C>T (p.Pro262Leu)
|
|
|
NM_001609.4(ACADSB):c.795C>G (p.Phe265Leu)
|
|
|
NM_001609.4(ACADSB):c.79A>G (p.Lys27Glu)
|
|
|
NM_001609.4(ACADSB):c.803T>C (p.Val268Ala)
|
rs2133483475
|
|
NM_001609.4(ACADSB):c.8G>A (p.Gly3Asp)
|
|
|
NM_001609.4(ACADSB):c.8G>C (p.Gly3Ala)
|
|
|
NM_001609.4(ACADSB):c.958A>T (p.Ile320Leu)
|
rs1554873785
|
|
NM_001698.3(AUH):c.107T>C (p.Leu36Pro)
|
|
|
NM_001698.3(AUH):c.10G>A (p.Ala4Thr)
|
|
|
NM_001698.3(AUH):c.156G>C (p.Gln52His)
|
|
|
NM_001698.3(AUH):c.197G>C (p.Gly66Ala)
|
|
|
NM_001698.3(AUH):c.197G>T (p.Gly66Val)
|
rs1323577454
|
|
NM_001698.3(AUH):c.204C>G (p.Ser68Arg)
|
|
|
NM_001698.3(AUH):c.20C>A (p.Ala7Glu)
|
|
|
NM_001698.3(AUH):c.211A>C (p.Met71Leu)
|
rs756127206
|
|
NM_001698.3(AUH):c.215_217dup (p.Lys72_Thr73insLys)
|
|
|
NM_001698.3(AUH):c.232C>T (p.Arg78Trp)
|
|
|
NM_001698.3(AUH):c.23C>T (p.Ala8Val)
|
|
|
NM_001698.3(AUH):c.243C>G (p.His81Gln)
|
rs372245304
|
|
NM_001698.3(AUH):c.261A>T (p.Arg87=)
|
rs2132125368
|
|
NM_001698.3(AUH):c.262+8G>A
|
|
|
NM_001698.3(AUH):c.263-5_263-2del
|
rs752149463
|
|
NM_001698.3(AUH):c.268_282del (p.Val90_Ile94del)
|
rs2132084310
|
|
NM_001698.3(AUH):c.304T>A (p.Ser102Thr)
|
rs1554721818
|
|
NM_001698.3(AUH):c.331-20T>A
|
|
|
NM_001698.3(AUH):c.341C>G (p.Ala114Gly)
|
|
|
NM_001698.3(AUH):c.350C>T (p.Ala117Val)
|
rs1832379274
|
|
NM_001698.3(AUH):c.382A>G (p.Ile128Val)
|
|
|
NM_001698.3(AUH):c.385A>G (p.Ile129Val)
|
rs1423043030
|
|
NM_001698.3(AUH):c.385A>T (p.Ile129Phe)
|
rs1423043030
|
|
NM_001698.3(AUH):c.408A>G (p.Ile136Met)
|
|
|
NM_001698.3(AUH):c.40T>C (p.Ser14Pro)
|
rs1482564472
|
|
NM_001698.3(AUH):c.419-5T>G
|
|
|
NM_001698.3(AUH):c.419G>T (p.Gly140Val)
|
|
|
NM_001698.3(AUH):c.430A>G (p.Lys144Glu)
|
rs2131861010
|
|
NM_001698.3(AUH):c.434A>C (p.Glu145Ala)
|
rs2131860995
|
|
NM_001698.3(AUH):c.445A>G (p.Met149Val)
|
|
|
NM_001698.3(AUH):c.466C>T (p.Pro156Ser)
|
|
|
NM_001698.3(AUH):c.467C>G (p.Pro156Arg)
|
|
|
NM_001698.3(AUH):c.47A>G (p.His16Arg)
|
|
|
NM_001698.3(AUH):c.498C>G (p.Asn166Lys)
|
|
|
NM_001698.3(AUH):c.499G>A (p.Asp167Asn)
|
rs776409546
|
|
NM_001698.3(AUH):c.526A>G (p.Ile176Val)
|
|
|
NM_001698.3(AUH):c.578C>T (p.Ala193Val)
|
rs2131662764
|
|
NM_001698.3(AUH):c.623T>C (p.Val208Ala)
|
rs1050057219
|
|
NM_001698.3(AUH):c.655+3A>T
|
|
|
NM_001698.3(AUH):c.656G>C (p.Gly219Ala)
|
rs1827104191
|
|
NM_001698.3(AUH):c.658G>C (p.Gly220Arg)
|
|
|
NM_001698.3(AUH):c.677G>A (p.Arg226His)
|
|
|
NM_001698.3(AUH):c.690G>A (p.Met230Ile)
|
rs1403383788
|
|
NM_001698.3(AUH):c.713T>C (p.Phe238Ser)
|
rs1587621572
|
|
NM_001698.3(AUH):c.736A>G (p.Lys246Glu)
|
rs2131215718
|
|
NM_001698.3(AUH):c.740A>C (p.Glu247Ala)
|
|
|
NM_001698.3(AUH):c.742G>A (p.Ala248Thr)
|
rs755299132
|
|
NM_001698.3(AUH):c.780G>C (p.Gln260His)
|
|
|
NM_001698.3(AUH):c.809A>G (p.Lys270Arg)
|
|
|
NM_001698.3(AUH):c.833T>C (p.Phe278Ser)
|
rs1398261487
|
|
NM_001698.3(AUH):c.856A>G (p.Met286Val)
|
rs776767438
|
|
NM_001698.3(AUH):c.942+4dup
|
rs1554688047
|
|
NM_001698.3(AUH):c.973C>G (p.Leu325Val)
|
|
|
NM_001698.3(AUH):c.980C>G (p.Ala327Gly)
|
|
|
NM_001698.3(AUH):c.997C>A (p.Pro333Thr)
|
|
|
NM_002225.5(IVD):c.1025A>G (p.Asn342Ser)
|
|
|
NM_002225.5(IVD):c.1065G>C (p.Lys355Asn)
|
rs910454086
|
|
NM_002225.5(IVD):c.1066-20A>G
|
|
|
NM_002225.5(IVD):c.1071T>G (p.Cys357Trp)
|
|
|
NM_002225.5(IVD):c.107A>G (p.Asp36Gly)
|
rs2141289941
|
|
NM_002225.5(IVD):c.1088A>T (p.Tyr363Phe)
|
|
|
NM_002225.5(IVD):c.1120G>A (p.Asp374Asn)
|
rs1566941619
|
|
NM_002225.5(IVD):c.1136T>C (p.Phe379Ser)
|
rs1469021843
|
|
NM_002225.5(IVD):c.1138G>C (p.Gly380Arg)
|
rs1891683650
|
|
NM_002225.5(IVD):c.1206A>G (p.Ile402Met)
|
|
|
NM_002225.5(IVD):c.1222G>A (p.Glu408Lys)
|
rs755693286
|
|
NM_002225.5(IVD):c.1242C>G (p.Ile414Met)
|
|
|
NM_002225.5(IVD):c.125T>A (p.Leu42Gln)
|
rs121434284
|
|
NM_002225.5(IVD):c.125T>G (p.Leu42Arg)
|
rs121434284
|
|
NM_002225.5(IVD):c.129C>A (p.Ser43Arg)
|
rs918899977
|
|
NM_002225.5(IVD):c.133G>A (p.Glu45Lys)
|
rs1890355188
|
|
NM_002225.5(IVD):c.142C>G (p.Gln48Glu)
|
rs771280106
|
|
NM_002225.5(IVD):c.148C>G (p.Arg50Gly)
|
rs34695403
|
|
NM_002225.5(IVD):c.179A>C (p.His60Pro)
|
|
|
NM_002225.5(IVD):c.17G>A (p.Arg6Gln)
|
rs748160492
|
|
NM_002225.5(IVD):c.215A>G (p.Asn72Ser)
|
|
|
NM_002225.5(IVD):c.229C>G (p.Leu77Val)
|
|
|
NM_002225.5(IVD):c.233G>C (p.Arg78Pro)
|
rs771929559
|
|
NM_002225.5(IVD):c.25G>T (p.Gly9Trp)
|
|
|
NM_002225.5(IVD):c.265G>A (p.Val89Ile)
|
|
|
NM_002225.5(IVD):c.298G>A (p.Gly100Ser)
|
|
|
NM_002225.5(IVD):c.2T>C (p.Met1Thr)
|
|
|
NM_002225.5(IVD):c.320A>G (p.Glu107Gly)
|
rs2141323321
|
|
NM_002225.5(IVD):c.34G>A (p.Val12Met)
|
|
|
NM_002225.5(IVD):c.376T>C (p.Tyr126His)
|
|
|
NM_002225.5(IVD):c.379G>A (p.Gly127Ser)
|
|
|
NM_002225.5(IVD):c.415C>T (p.Arg139Cys)
|
rs376324882
|
|
NM_002225.5(IVD):c.417C>T (p.Arg139=)
|
|
|
NM_002225.5(IVD):c.419A>G (p.Asn140Ser)
|
|
|
NM_002225.5(IVD):c.452C>G (p.Pro151Arg)
|
|
|
NM_002225.5(IVD):c.457-3C>T
|
|
|
NM_002225.5(IVD):c.464GTG[3] (p.Gly156dup)
|
rs796051982
|
|
NM_002225.5(IVD):c.48G>C (p.Arg16Ser)
|
|
|
NM_002225.5(IVD):c.492G>A (p.Met164Ile)
|
|
|
NM_002225.5(IVD):c.521T>G (p.Val174Gly)
|
rs1891058364
|
|
NM_002225.5(IVD):c.550+6G>A
|
rs1891063818
|
|
NM_002225.5(IVD):c.59C>T (p.Pro20Leu)
|
|
|
NM_002225.5(IVD):c.623A>G (p.Tyr208Cys)
|
|
|
NM_002225.5(IVD):c.634G>A (p.Asp212Asn)
|
|
|
NM_002225.5(IVD):c.634G>C (p.Asp212His)
|
|
|
NM_002225.5(IVD):c.641C>T (p.Ala214Val)
|
|
|
NM_002225.5(IVD):c.646G>A (p.Val216Met)
|
|
|
NM_002225.5(IVD):c.659G>A (p.Arg220Gln)
|
|
|
NM_002225.5(IVD):c.671C>A (p.Ala224Asp)
|
|
|
NM_002225.5(IVD):c.678T>G (p.Ile226Met)
|
rs1891104586
|
|
NM_002225.5(IVD):c.688G>T (p.Gly230Cys)
|
|
|
NM_002225.5(IVD):c.71T>C (p.Phe24Ser)
|
|
|
NM_002225.5(IVD):c.721G>A (p.Asp241Asn)
|
rs2141340100
|
|
NM_002225.5(IVD):c.772T>G (p.Cys258Gly)
|
rs2141340538
|
|
NM_002225.5(IVD):c.817G>A (p.Val273Ile)
|
|
|
NM_002225.5(IVD):c.821A>G (p.Tyr274Cys)
|
|
|
NM_002225.5(IVD):c.841G>A (p.Asp281Asn)
|
|
|
NM_002225.5(IVD):c.850C>T (p.Arg284Trp)
|
|
|
NM_002225.5(IVD):c.853C>G (p.Leu285Val)
|
|
|
NM_002225.5(IVD):c.865G>T (p.Gly289Trp)
|
rs568885234
|
|
NM_002225.5(IVD):c.880C>T (p.Leu294Phe)
|
|
|
NM_002225.5(IVD):c.881T>C (p.Leu294Pro)
|
rs1555404933
|
|
NM_002225.5(IVD):c.887A>T (p.Gln296Leu)
|
rs1595786862
|
|
NM_002225.5(IVD):c.919C>T (p.His307Tyr)
|
rs2141355545
|
|
NM_002225.5(IVD):c.995G>A (p.Arg332His)
|
|
|
NM_005050.4(ABCD4):c.1006G>A (p.Asp336Asn)
|
|
|
NM_005050.4(ABCD4):c.1009G>A (p.Val337Met)
|
|
|
NM_005050.4(ABCD4):c.1034G>T (p.Gly345Val)
|
|
|
NM_005050.4(ABCD4):c.1040T>C (p.Leu347Pro)
|
|
|
NM_005050.4(ABCD4):c.1049C>T (p.Thr350Met)
|
rs35073715
|
|
NM_005050.4(ABCD4):c.1060A>G (p.Met354Val)
|
|
|
NM_005050.4(ABCD4):c.1124C>T (p.Pro375Leu)
|
|
|
NM_005050.4(ABCD4):c.1190C>G (p.Pro397Arg)
|
|
|
NM_005050.4(ABCD4):c.1255A>G (p.Ile419Val)
|
rs2081160348
|
|
NM_005050.4(ABCD4):c.1265A>G (p.Asn422Ser)
|
|
|
NM_005050.4(ABCD4):c.1283C>T (p.Thr428Ile)
|
rs945270666
|
|
NM_005050.4(ABCD4):c.1306G>A (p.Gly436Ser)
|
rs2081143591
|
|
NM_005050.4(ABCD4):c.131T>A (p.Leu44Gln)
|
|
|
NM_005050.4(ABCD4):c.1328-10G>A
|
|
|
NM_005050.4(ABCD4):c.1333G>A (p.Val445Met)
|
|
|
NM_005050.4(ABCD4):c.1352T>C (p.Phe451Ser)
|
rs1594861158
|
|
NM_005050.4(ABCD4):c.1357C>T (p.Pro453Ser)
|
|
|
NM_005050.4(ABCD4):c.1420-3del
|
|
|
NM_005050.4(ABCD4):c.1426T>C (p.Tyr476His)
|
rs1045211254
|
|
NM_005050.4(ABCD4):c.1450G>A (p.Asp484Asn)
|
|
|
NM_005050.4(ABCD4):c.1507-3_1507-2dup
|
rs746298456
|
|
NM_005050.4(ABCD4):c.1520C>A (p.Ala507Glu)
|
|
|
NM_005050.4(ABCD4):c.1528G>C (p.Glu510Gln)
|
|
|
NM_005050.4(ABCD4):c.1559+7_1559+11del
|
rs1381694360
|
|
NM_005050.4(ABCD4):c.157G>A (p.Glu53Lys)
|
rs2140107509
|
|
NM_005050.4(ABCD4):c.1588C>A (p.Gln530Lys)
|
|
|
NM_005050.4(ABCD4):c.1633G>A (p.Ala545Thr)
|
rs754370477
|
|
NM_005050.4(ABCD4):c.1667_1668del (p.Glu556fs)
|
|
|
NM_005050.4(ABCD4):c.1678A>G (p.Ser560Gly)
|
rs2139698542
|
|
NM_005050.4(ABCD4):c.1680C>G (p.Ser560Arg)
|
rs138753274
|
|
NM_005050.4(ABCD4):c.1691G>A (p.Arg564His)
|
rs1204078851
|
|
NM_005050.4(ABCD4):c.1696G>A (p.Gly566Ser)
|
|
|
NM_005050.4(ABCD4):c.1715C>T (p.Thr572Met)
|
|
|
NM_005050.4(ABCD4):c.1743C>G (p.Ser581Arg)
|
|
|
NM_005050.4(ABCD4):c.1774C>T (p.Leu592Phe)
|
rs2139689489
|
|
NM_005050.4(ABCD4):c.1805G>C (p.Arg602Thr)
|
|
|
NM_005050.4(ABCD4):c.1A>G (p.Met1Val)
|
rs2140174798
|
|
NM_005050.4(ABCD4):c.225C>G (p.Asp75Glu)
|
rs2140093719
|
|
NM_005050.4(ABCD4):c.227T>C (p.Leu76Ser)
|
|
|
NM_005050.4(ABCD4):c.23C>T (p.Pro8Leu)
|
|
|
NM_005050.4(ABCD4):c.286-3C>T
|
|
|
NM_005050.4(ABCD4):c.286-7T>A
|
|
|
NM_005050.4(ABCD4):c.379C>T (p.Arg127Cys)
|
|
|
NM_005050.4(ABCD4):c.384G>A (p.Ala128=)
|
|
|
NM_005050.4(ABCD4):c.398A>G (p.Asn133Ser)
|
|
|
NM_005050.4(ABCD4):c.39G>T (p.Arg13Ser)
|
|
|
NM_005050.4(ABCD4):c.400G>A (p.Val134Met)
|
|
|
NM_005050.4(ABCD4):c.40C>G (p.Pro14Ala)
|
rs972140495
|
|
NM_005050.4(ABCD4):c.419A>C (p.Asp140Ala)
|
|
|
NM_005050.4(ABCD4):c.41C>T (p.Pro14Leu)
|
|
|
NM_005050.4(ABCD4):c.434G>T (p.Arg145Leu)
|
rs150967109
|
|
NM_005050.4(ABCD4):c.448G>A (p.Val150Met)
|
rs574925291
|
|
NM_005050.4(ABCD4):c.467A>T (p.Gln156Leu)
|
|
|
NM_005050.4(ABCD4):c.469C>G (p.Leu157Val)
|
|
|
NM_005050.4(ABCD4):c.500C>A (p.Ser167Tyr)
|
rs778245157
|
|
NM_005050.4(ABCD4):c.505T>C (p.Phe169Leu)
|
|
|
NM_005050.4(ABCD4):c.511C>T (p.Leu171Phe)
|
|
|
NM_005050.4(ABCD4):c.619C>A (p.Pro207Thr)
|
|
|
NM_005050.4(ABCD4):c.637G>T (p.Val213Leu)
|
|
|
NM_005050.4(ABCD4):c.664T>C (p.Phe222Leu)
|
|
|
NM_005050.4(ABCD4):c.675G>C (p.Lys225Asn)
|
|
|
NM_005050.4(ABCD4):c.688C>T (p.Arg230Trp)
|
|
|
NM_005050.4(ABCD4):c.716A>G (p.Tyr239Cys)
|
|
|
NM_005050.4(ABCD4):c.739A>C (p.Met247Leu)
|
|
|
NM_005050.4(ABCD4):c.754A>G (p.Arg252Gly)
|
|
|
NM_005050.4(ABCD4):c.761A>G (p.Gln254Arg)
|
|
|
NM_005050.4(ABCD4):c.801G>C (p.Glu267Asp)
|
rs1566959741
|
|
NM_005050.4(ABCD4):c.814+6C>T
|
rs1012967402
|
|
NM_005050.4(ABCD4):c.821T>A (p.Ile274Asn)
|
rs2081908223
|
|
NM_005050.4(ABCD4):c.893A>G (p.Tyr298Cys)
|
|
|
NM_005050.4(ABCD4):c.89T>G (p.Val30Gly)
|
rs2084043062
|
|
NM_005050.4(ABCD4):c.979C>G (p.Leu327Val)
|
|
|
NM_005050.4(ABCD4):c.995C>T (p.Thr332Met)
|
|
|
NM_005334.3(HCFC1):c.1159G>A (p.Val387Met)
|
rs782132752
|
|
NM_005334.3(HCFC1):c.1228A>G (p.Thr410Ala)
|
|
|
NM_005334.3(HCFC1):c.1309G>A (p.Val437Met)
|
rs2065413556
|
|
NM_005334.3(HCFC1):c.1427C>T (p.Thr476Ile)
|
rs782364666
|
|
NM_005334.3(HCFC1):c.1763C>A (p.Thr588Asn)
|
|
|
NM_005334.3(HCFC1):c.2028+6T>C
|
|
|
NM_005334.3(HCFC1):c.218C>T (p.Ala73Val)
|
rs397515486
|
|
NM_005334.3(HCFC1):c.2287C>T (p.Pro763Ser)
|
|
|
NM_005334.3(HCFC1):c.2353+6G>A
|
|
|
NM_005334.3(HCFC1):c.2360C>A (p.Thr787Asn)
|
|
|
NM_005334.3(HCFC1):c.2516C>T (p.Pro839Leu)
|
|
|
NM_005334.3(HCFC1):c.2542A>G (p.Thr848Ala)
|
rs1131691855
|
|
NM_005334.3(HCFC1):c.2668G>A (p.Val890Ile)
|
rs949004802
|
|
NM_005334.3(HCFC1):c.3233C>T (p.Pro1078Leu)
|
|
|
NM_005334.3(HCFC1):c.3314C>T (p.Ser1105Leu)
|
rs2065360852
|
|
NM_005334.3(HCFC1):c.3317A>C (p.Asn1106Thr)
|
rs2065360777
|
|
NM_005334.3(HCFC1):c.3337G>A (p.Glu1113Lys)
|
|
|
NM_005334.3(HCFC1):c.3398G>A (p.Arg1133Gln)
|
|
|
NM_005334.3(HCFC1):c.3443G>A (p.Arg1148Gln)
|
|
|
NM_005334.3(HCFC1):c.3584C>T (p.Pro1195Leu)
|
|
|
NM_005334.3(HCFC1):c.3602C>G (p.Pro1201Arg)
|
|
|
NM_005334.3(HCFC1):c.3689C>T (p.Ala1230Val)
|
|
|
NM_005334.3(HCFC1):c.3767C>T (p.Pro1256Leu)
|
|
|
NM_005334.3(HCFC1):c.3779G>T (p.Ser1260Ile)
|
rs2065352881
|
|
NM_005334.3(HCFC1):c.3807_3812del (p.1270VT[1])
|
|
|
NM_005334.3(HCFC1):c.3811A>G (p.Thr1271Ala)
|
|
|
NM_005334.3(HCFC1):c.3839G>C (p.Cys1280Ser)
|
|
|
NM_005334.3(HCFC1):c.3880T>C (p.Cys1294Arg)
|
rs2148571129
|
|
NM_005334.3(HCFC1):c.3995C>T (p.Thr1332Met)
|
|
|
NM_005334.3(HCFC1):c.4063C>T (p.Arg1355Cys)
|
|
|
NM_005334.3(HCFC1):c.4148C>T (p.Ser1383Phe)
|
|
|
NM_005334.3(HCFC1):c.4210G>C (p.Gly1404Arg)
|
rs2148569217
|
|
NM_005334.3(HCFC1):c.4423A>G (p.Thr1475Ala)
|
rs2065338418
|
|
NM_005334.3(HCFC1):c.4481C>T (p.Pro1494Leu)
|
|
|
NM_005334.3(HCFC1):c.4499C>T (p.Pro1500Leu)
|
rs1277991321
|
|
NM_005334.3(HCFC1):c.4532G>A (p.Arg1511His)
|
|
|
NM_005334.3(HCFC1):c.4727C>A (p.Pro1576Gln)
|
|
|
NM_005334.3(HCFC1):c.4735C>G (p.Gln1579Glu)
|
rs1603294733
|
|
NM_005334.3(HCFC1):c.4880C>T (p.Thr1627Met)
|
rs2148563099
|
|
NM_005334.3(HCFC1):c.4948G>A (p.Gly1650Ser)
|
|
|
NM_005334.3(HCFC1):c.4983_4988del (p.Val1662_Thr1663del)
|
rs1275942023
|
|
NM_005334.3(HCFC1):c.5097_5126dup (p.Gln1699_Gln1708dup)
|
rs2148561074
|
|
NM_005334.3(HCFC1):c.5192A>G (p.Asn1731Ser)
|
rs1376359622
|
|
NM_005334.3(HCFC1):c.5276A>C (p.Asn1759Thr)
|
rs782384589
|
|
NM_005334.3(HCFC1):c.5468T>C (p.Val1823Ala)
|
rs2065309711
|
|
NM_005334.3(HCFC1):c.6029C>G (p.Thr2010Ser)
|
|
|
NM_005334.3(HCFC1):c.6094G>A (p.Ala2032Thr)
|
|
|
NM_005334.3(HCFC1):c.712+6C>T
|
rs1165322624
|
|
NM_005334.3(HCFC1):c.73delinsCCAC (p.Trp25delinsProArg)
|
rs2065524568
|
|
NM_005334.3(HCFC1):c.80G>A (p.Gly27Asp)
|
|
|
NM_005334.3(HCFC1):c.932T>C (p.Met311Thr)
|
|
|
NM_014362.4(HIBCH):c.1004C>T (p.Ala335Val)
|
|
|
NM_014362.4(HIBCH):c.1012-10T>G
|
rs1246020574
|
|
NM_014362.4(HIBCH):c.1024T>C (p.Phe342Leu)
|
|
|
NM_014362.4(HIBCH):c.1028A>T (p.His343Leu)
|
|
|
NM_014362.4(HIBCH):c.1034G>T (p.Gly345Val)
|
rs1260531370
|
|
NM_014362.4(HIBCH):c.1035C>T (p.Gly345=)
|
|
|
NM_014362.4(HIBCH):c.1045G>C (p.Val349Leu)
|
|
|
NM_014362.4(HIBCH):c.1053T>G (p.Ile351Met)
|
rs1575690635
|
|
NM_014362.4(HIBCH):c.1084G>A (p.Ala362Thr)
|
|
|
NM_014362.4(HIBCH):c.1128del (p.Phe376fs)
|
rs863225062
|
|
NM_014362.4(HIBCH):c.1139G>A (p.Gly380Glu)
|
|
|
NM_014362.4(HIBCH):c.11G>T (p.Arg4Leu)
|
rs749741622
|
|
NM_014362.4(HIBCH):c.125A>G (p.Lys42Arg)
|
|
|
NM_014362.4(HIBCH):c.175G>T (p.Ala59Ser)
|
|
|
NM_014362.4(HIBCH):c.219G>A (p.Lys73=)
|
|
|
NM_014362.4(HIBCH):c.222G>A (p.Lys74=)
|
|
|
NM_014362.4(HIBCH):c.253A>T (p.Ile85Phe)
|
|
|
NM_014362.4(HIBCH):c.284G>C (p.Cys95Ser)
|
rs2105990079
|
|
NM_014362.4(HIBCH):c.288C>T (p.Ala96=)
|
|
|
NM_014362.4(HIBCH):c.324G>T (p.Lys108Asn)
|
|
|
NM_014362.4(HIBCH):c.35G>A (p.Arg12Lys)
|
|
|
NM_014362.4(HIBCH):c.438+4A>G
|
|
|
NM_014362.4(HIBCH):c.4G>A (p.Gly2Arg)
|
rs1341440380
|
|
NM_014362.4(HIBCH):c.56C>G (p.Thr19Ser)
|
|
|
NM_014362.4(HIBCH):c.594A>T (p.Thr198=)
|
|
|
NM_014362.4(HIBCH):c.616G>A (p.Asp206Asn)
|
|
|
NM_014362.4(HIBCH):c.68T>A (p.Leu23Gln)
|
|
|
NM_014362.4(HIBCH):c.692C>T (p.Ala231Val)
|
|
|
NM_014362.4(HIBCH):c.712G>A (p.Glu238Lys)
|
|
|
NM_014362.4(HIBCH):c.716A>G (p.Asn239Ser)
|
|
|
NM_014362.4(HIBCH):c.751-4A>G
|
|
|
NM_014362.4(HIBCH):c.751-5_751-2del
|
|
|
NM_014362.4(HIBCH):c.832G>A (p.Glu278Lys)
|
|
|
NM_014362.4(HIBCH):c.863G>C (p.Gly288Ala)
|
|
|
NM_014362.4(HIBCH):c.925A>G (p.Ile309Val)
|
|
|
NM_014362.4(HIBCH):c.932T>G (p.Leu311Arg)
|
|
|
NM_014362.4(HIBCH):c.945G>A (p.Met315Ile)
|
|
|
NM_014362.4(HIBCH):c.974T>G (p.Val325Gly)
|
rs751484433
|
|
NM_014384.3(ACAD8):c.104T>G (p.Ile35Ser)
|
|
|
NM_014384.3(ACAD8):c.1057A>G (p.Met353Val)
|
rs2136083488
|
|
NM_014384.3(ACAD8):c.1084T>C (p.Cys362Arg)
|
rs995149464
|
|
NM_014384.3(ACAD8):c.109+19G>T
|
|
|
NM_014384.3(ACAD8):c.1092+3_1092+6del
|
rs780925587
|
|
NM_014384.3(ACAD8):c.1097G>A (p.Cys366Tyr)
|
|
|
NM_014384.3(ACAD8):c.109C>T (p.Pro37Ser)
|
|
|
NM_014384.3(ACAD8):c.110-6C>T
|
rs559628768
|
|
NM_014384.3(ACAD8):c.1193A>G (p.Glu398Gly)
|
rs1218106884
|
|
NM_014384.3(ACAD8):c.1195+1G>A
|
rs1555067461
|
|
NM_014384.3(ACAD8):c.1196-4_1196-2del
|
rs1940101302
|
|
NM_014384.3(ACAD8):c.121C>A (p.Leu41Ile)
|
rs2136075017
|
|
NM_014384.3(ACAD8):c.130G>A (p.Glu44Lys)
|
|
|
NM_014384.3(ACAD8):c.235C>G (p.Arg79Gly)
|
rs377629003
|
|
NM_014384.3(ACAD8):c.259G>A (p.Gly87Arg)
|
|
|
NM_014384.3(ACAD8):c.275A>G (p.Gln92Arg)
|
rs886048022
|
|
NM_014384.3(ACAD8):c.293C>T (p.Ser98Phe)
|
rs948304437
|
|
NM_014384.3(ACAD8):c.316T>C (p.Ser106Pro)
|
rs2136076309
|
|
NM_014384.3(ACAD8):c.32C>T (p.Ala11Val)
|
rs773403936
|
|
NM_014384.3(ACAD8):c.340A>G (p.Thr114Ala)
|
rs935057058
|
|
NM_014384.3(ACAD8):c.344G>A (p.Gly115Asp)
|
|
|
NM_014384.3(ACAD8):c.368T>A (p.Ile123Lys)
|
rs1353919966
|
|
NM_014384.3(ACAD8):c.372C>G (p.Ser124Arg)
|
|
|
NM_014384.3(ACAD8):c.375C>G (p.Ile125Met)
|
|
|
NM_014384.3(ACAD8):c.422A>G (p.Gln141Arg)
|
rs2136078898
|
|
NM_014384.3(ACAD8):c.431A>G (p.Lys144Arg)
|
rs1301535598
|
|
NM_014384.3(ACAD8):c.459G>A (p.Glu153=)
|
|
|
NM_014384.3(ACAD8):c.494G>T (p.Ser165Ile)
|
|
|
NM_014384.3(ACAD8):c.584C>A (p.Ala195Asp)
|
rs774591276
|
|
NM_014384.3(ACAD8):c.64G>T (p.Val22Phe)
|
rs1274417206
|
|
NM_014384.3(ACAD8):c.730C>G (p.Arg244Gly)
|
|
|
NM_014384.3(ACAD8):c.782G>A (p.Ser261Asn)
|
rs2136082301
|
|
NM_014384.3(ACAD8):c.794G>C (p.Gly265Ala)
|
rs1246888184
|
|
NM_014384.3(ACAD8):c.79G>A (p.Gly27Ser)
|
|
|
NM_014384.3(ACAD8):c.822C>A (p.Asn274Lys)
|
rs371156848
|
|
NM_014384.3(ACAD8):c.849C>G (p.Cys283Trp)
|
rs1939865617
|
|
NM_014384.3(ACAD8):c.859G>C (p.Ala287Pro)
|
|
|
NM_014384.3(ACAD8):c.867C>G (p.His289Gln)
|
rs121908421
|
|
NM_014384.3(ACAD8):c.868G>A (p.Ala290Thr)
|
|
|
NM_014384.3(ACAD8):c.868G>C (p.Ala290Pro)
|
|
|
NM_014384.3(ACAD8):c.905G>C (p.Arg302Pro)
|
rs121908422
|
|
NM_014384.3(ACAD8):c.940-13C>G
|
|
|
NM_014384.3(ACAD8):c.965T>G (p.Met322Arg)
|
rs577976129
|
|
NM_014384.3(ACAD8):c.986C>T (p.Ala329Val)
|
|
|
NM_015506.3(MMACHC):c.137C>G (p.Pro46Arg)
|
rs2149323209
|
|
NM_015506.3(MMACHC):c.140C>A (p.Thr47Asn)
|
|
|
NM_015506.3(MMACHC):c.140C>T (p.Thr47Ile)
|
|
|
NM_015506.3(MMACHC):c.145G>A (p.Ala49Thr)
|
|
|
NM_015506.3(MMACHC):c.145G>C (p.Ala49Pro)
|
rs775502093
|
|
NM_015506.3(MMACHC):c.162C>G (p.Ser54Arg)
|
rs750127773
|
|
NM_015506.3(MMACHC):c.164C>T (p.Thr55Met)
|
|
|
NM_015506.3(MMACHC):c.182G>A (p.Arg61Gln)
|
rs201777449
|
|
NM_015506.3(MMACHC):c.222G>T (p.Met74Ile)
|
rs772225967
|
|
NM_015506.3(MMACHC):c.245G>A (p.Cys82Tyr)
|
|
|
NM_015506.3(MMACHC):c.254A>C (p.Tyr85Ser)
|
|
|
NM_015506.3(MMACHC):c.265C>T (p.Arg89Cys)
|
|
|
NM_015506.3(MMACHC):c.266G>A (p.Arg89His)
|
|
|
NM_015506.3(MMACHC):c.276+5G>A
|
|
|
NM_015506.3(MMACHC):c.286G>A (p.Glu96Lys)
|
|
|
NM_015506.3(MMACHC):c.313_315del (p.Tyr105del)
|
rs1557607881
|
|
NM_015506.3(MMACHC):c.319G>A (p.Val107Met)
|
rs758730415
|
|
NM_015506.3(MMACHC):c.343A>G (p.Ile115Val)
|
|
|
NM_015506.3(MMACHC):c.354_365del (p.Gln118_Ala121del)
|
rs1643666069
|
|
NM_015506.3(MMACHC):c.385T>C (p.Tyr129His)
|
|
|
NM_015506.3(MMACHC):c.393A>C (p.Gln131His)
|
rs2149323606
|
|
NM_015506.3(MMACHC):c.395G>A (p.Arg132Gln)
|
rs369335868
|
|
NM_015506.3(MMACHC):c.433A>G (p.Ile145Val)
|
rs74365027
|
|
NM_015506.3(MMACHC):c.460T>C (p.Phe154Leu)
|
|
|
NM_015506.3(MMACHC):c.488T>C (p.Val163Ala)
|
rs1570832855
|
|
NM_015506.3(MMACHC):c.490G>A (p.Val164Met)
|
rs1417321919
|
|
NM_015506.3(MMACHC):c.502G>A (p.Gly168Arg)
|
|
|
NM_015506.3(MMACHC):c.503G>A (p.Gly168Glu)
|
|
|
NM_015506.3(MMACHC):c.506T>C (p.Ile169Thr)
|
rs1643678565
|
|
NM_015506.3(MMACHC):c.545G>A (p.Cys182Tyr)
|
rs372010149
|
|
NM_015506.3(MMACHC):c.547G>A (p.Val183Ile)
|
|
|
NM_015506.3(MMACHC):c.553A>C (p.Thr185Pro)
|
|
|
NM_015506.3(MMACHC):c.562G>A (p.Asp188Asn)
|
rs748747319
|
|
NM_015506.3(MMACHC):c.572C>T (p.Ala191Val)
|
rs375442063
|
|
NM_015506.3(MMACHC):c.590A>G (p.Asn197Ser)
|
|
|
NM_015506.3(MMACHC):c.598T>C (p.Trp200Arg)
|
|
|
NM_015506.3(MMACHC):c.602G>A (p.Arg201His)
|
|
|
NM_015506.3(MMACHC):c.626T>A (p.Val209Glu)
|
|
|
NM_015506.3(MMACHC):c.631C>A (p.Pro211Thr)
|
|
|
NM_015506.3(MMACHC):c.631C>T (p.Pro211Ser)
|
rs192924272
|
|
NM_015506.3(MMACHC):c.649G>A (p.Glu217Lys)
|
rs483352740
|
|
NM_015506.3(MMACHC):c.701T>C (p.Leu234Ser)
|
|
|
NM_015506.3(MMACHC):c.717_728del (p.Glu241_Ser244del)
|
|
|
NM_015506.3(MMACHC):c.743C>T (p.Pro248Leu)
|
|
|
NM_015506.3(MMACHC):c.754T>C (p.Phe252Leu)
|
|
|
NM_015506.3(MMACHC):c.763C>G (p.Pro255Ala)
|
rs533256855
|
|
NM_015506.3(MMACHC):c.763C>T (p.Pro255Ser)
|
rs533256855
|
|
NM_015506.3(MMACHC):c.792_818del (p.Ser264_Pro272del)
|
rs753855245
|
|
NM_015506.3(MMACHC):c.795_*18delinsGTATGGTA (p.Ala266fs)
|
rs1643689610
|
|
NM_015506.3(MMACHC):c.799C>G (p.Arg267Gly)
|
rs34258482
|
|
NM_015506.3(MMACHC):c.829C>T (p.Pro277Ser)
|
|
|
NM_015506.3(MMACHC):c.844C>A (p.Pro282Thr)
|
rs1553163019
|
|
NM_015506.3(MMACHC):c.847T>C (p.Ter283Arg)
|
|
|
NM_015506.3(MMACHC):c.848G>C (p.Ter283Ser)
|
rs201025783
|
|
NM_015702.3(MMADHC):c.113G>T (p.Gly38Val)
|
|
|
NM_015702.3(MMADHC):c.136G>C (p.Ala46Pro)
|
rs749521854
|
|
NM_015702.3(MMADHC):c.149A>G (p.Asp50Gly)
|
|
|
NM_015702.3(MMADHC):c.172C>G (p.Pro58Ala)
|
|
|
NM_015702.3(MMADHC):c.184A>G (p.Met62Val)
|
|
|
NM_015702.3(MMADHC):c.196G>A (p.Gly66Arg)
|
rs1334273037
|
|
NM_015702.3(MMADHC):c.245G>A (p.Cys82Tyr)
|
|
|
NM_015702.3(MMADHC):c.299C>T (p.Pro100Leu)
|
|
|
NM_015702.3(MMADHC):c.311C>T (p.Ala104Val)
|
rs533388008
|
|
NM_015702.3(MMADHC):c.362A>G (p.Asn121Ser)
|
|
|
NM_015702.3(MMADHC):c.373-5C>A
|
|
|
NM_015702.3(MMADHC):c.440A>T (p.Glu147Val)
|
rs768142805
|
|
NM_015702.3(MMADHC):c.461C>G (p.Pro154Arg)
|
rs1226772166
|
|
NM_015702.3(MMADHC):c.481T>A (p.Phe161Ile)
|
|
|
NM_015702.3(MMADHC):c.562G>A (p.Val188Ile)
|
|
|
NM_015702.3(MMADHC):c.572AAG[1] (p.Glu192del)
|
|
|
NM_015702.3(MMADHC):c.609+6T>C
|
rs1682704400
|
|
NM_015702.3(MMADHC):c.724C>G (p.Leu242Val)
|
|
|
NM_015702.3(MMADHC):c.737A>G (p.Asp246Gly)
|
rs1408840913
|
|
NM_015702.3(MMADHC):c.73G>C (p.Val25Leu)
|
rs549522925
|
|
NM_015702.3(MMADHC):c.73G>T (p.Val25Phe)
|
rs549522925
|
|
NM_015702.3(MMADHC):c.764C>G (p.Ser255Cys)
|
rs773493767
|
|
NM_015702.3(MMADHC):c.764_765del (p.Ser255fs)
|
rs2105041468
|
|
NM_015702.3(MMADHC):c.766G>C (p.Val256Leu)
|
|
|
NM_015702.3(MMADHC):c.787A>T (p.Lys263Ter)
|
|
|
NM_015702.3(MMADHC):c.808T>C (p.Trp270Arg)
|
rs2105041421
|
|
NM_015702.3(MMADHC):c.835A>G (p.Ile279Val)
|
|
|
NM_015702.3(MMADHC):c.857A>C (p.Asp286Ala)
|
|
|
NM_018368.4(LMBRD1):c.1025T>C (p.Ile342Thr)
|
rs2149844901
|
|
NM_018368.4(LMBRD1):c.1067T>C (p.Leu356Ser)
|
rs1766127830
|
|
NM_018368.4(LMBRD1):c.1109T>C (p.Ile370Thr)
|
|
|
NM_018368.4(LMBRD1):c.1136T>A (p.Phe379Tyr)
|
rs2149844500
|
|
NM_018368.4(LMBRD1):c.1166G>A (p.Gly389Asp)
|
|
|
NM_018368.4(LMBRD1):c.11C>T (p.Ser4Phe)
|
|
|
NM_018368.4(LMBRD1):c.125G>A (p.Ser42Asn)
|
|
|
NM_018368.4(LMBRD1):c.1286A>G (p.Tyr429Cys)
|
|
|
NM_018368.4(LMBRD1):c.1331T>C (p.Leu444Ser)
|
rs2149843427
|
|
NM_018368.4(LMBRD1):c.1370A>G (p.Asn457Ser)
|
|
|
NM_018368.4(LMBRD1):c.1435C>T (p.Arg479Trp)
|
|
|
NM_018368.4(LMBRD1):c.1436G>A (p.Arg479Gln)
|
|
|
NM_018368.4(LMBRD1):c.151A>G (p.Ile51Val)
|
|
|
NM_018368.4(LMBRD1):c.151A>T (p.Ile51Phe)
|
rs758878362
|
|
NM_018368.4(LMBRD1):c.156T>G (p.Phe52Leu)
|
|
|
NM_018368.4(LMBRD1):c.1577A>G (p.Glu526Gly)
|
rs761378514
|
|
NM_018368.4(LMBRD1):c.164C>T (p.Ala55Val)
|
rs750928457
|
|
NM_018368.4(LMBRD1):c.23C>T (p.Ser8Leu)
|
|
|
NM_018368.4(LMBRD1):c.25G>A (p.Ala9Thr)
|
|
|
NM_018368.4(LMBRD1):c.272G>C (p.Arg91Thr)
|
|
|
NM_018368.4(LMBRD1):c.284A>T (p.Asp95Val)
|
rs756284919
|
|
NM_018368.4(LMBRD1):c.368A>G (p.Tyr123Cys)
|
rs1765174962
|
|
NM_018368.4(LMBRD1):c.37A>G (p.Ile13Val)
|
|
|
NM_018368.4(LMBRD1):c.400T>C (p.Cys134Arg)
|
rs1582124917
|
|
NM_018368.4(LMBRD1):c.403A>C (p.Thr135Pro)
|
|
|
NM_018368.4(LMBRD1):c.40G>A (p.Gly14Ser)
|
|
|
NM_018368.4(LMBRD1):c.500A>G (p.Asn167Ser)
|
|
|
NM_018368.4(LMBRD1):c.55G>T (p.Gly19Cys)
|
|
|
NM_018368.4(LMBRD1):c.5C>G (p.Ala2Gly)
|
|
|
NM_018368.4(LMBRD1):c.614T>C (p.Met205Thr)
|
|
|
NM_018368.4(LMBRD1):c.641A>G (p.Tyr214Cys)
|
|
|
NM_018368.4(LMBRD1):c.662T>C (p.Leu221Ser)
|
rs2149856480
|
|
NM_018368.4(LMBRD1):c.676G>T (p.Gly226Cys)
|
rs2149856461
|
|
NM_018368.4(LMBRD1):c.686G>A (p.Ser229Asn)
|
|
|
NM_018368.4(LMBRD1):c.687C>G (p.Ser229Arg)
|
|
|
NM_018368.4(LMBRD1):c.695A>G (p.Tyr232Cys)
|
|
|
NM_018368.4(LMBRD1):c.700C>T (p.Arg234Cys)
|
|
|
NM_018368.4(LMBRD1):c.727G>C (p.Glu243Gln)
|
rs1766553572
|
|
NM_018368.4(LMBRD1):c.773G>T (p.Gly258Val)
|
|
|
NM_018368.4(LMBRD1):c.776G>A (p.Arg259Gln)
|
|
|
NM_018368.4(LMBRD1):c.800G>A (p.Arg267His)
|
|
|
NM_018368.4(LMBRD1):c.940T>G (p.Leu314Val)
|
rs1409901040
|
|
NM_018368.4(LMBRD1):c.947C>T (p.Ala316Val)
|
rs2149845543
|
|
NM_018368.4(LMBRD1):c.953T>C (p.Leu318Pro)
|
|
|
NM_018368.4(LMBRD1):c.980+3A>G
|
|
|
NM_018368.4(LMBRD1):c.989A>C (p.Lys330Thr)
|
rs766881860
|
|
NM_020166.5(MCCC1):c.1016G>T (p.Arg339Met)
|
|
|
NM_020166.5(MCCC1):c.1040C>A (p.Thr347Asn)
|
rs1714478055
|
|
NM_020166.5(MCCC1):c.1067T>C (p.Val356Ala)
|
rs1714474829
|
|
NM_020166.5(MCCC1):c.1123A>G (p.Ile375Val)
|
rs2108479414
|
|
NM_020166.5(MCCC1):c.1134_1136dup (p.Gly379dup)
|
rs2108479359
|
|
NM_020166.5(MCCC1):c.1139A>T (p.His380Leu)
|
|
|
NM_020166.5(MCCC1):c.1140T>G (p.His380Gln)
|
rs1714100545
|
|
NM_020166.5(MCCC1):c.1149A>C (p.Glu383Asp)
|
|
|
NM_020166.5(MCCC1):c.117G>A (p.Met39Ile)
|
|
|
NM_020166.5(MCCC1):c.1208T>G (p.Val403Gly)
|
|
|
NM_020166.5(MCCC1):c.1216T>C (p.Ser406Pro)
|
rs1714092180
|
|
NM_020166.5(MCCC1):c.1223C>T (p.Pro408Leu)
|
rs1577276072
|
|
NM_020166.5(MCCC1):c.1225C>G (p.Arg409Gly)
|
rs1484347924
|
|
NM_020166.5(MCCC1):c.1270G>A (p.Asp424Asn)
|
rs1713861760
|
|
NM_020166.5(MCCC1):c.1273G>A (p.Glu425Lys)
|
|
|
NM_020166.5(MCCC1):c.1288T>G (p.Tyr430Asp)
|
rs2108474014
|
|
NM_020166.5(MCCC1):c.1304C>T (p.Ala435Val)
|
rs1232970567
|
|
NM_020166.5(MCCC1):c.130_131delinsTT (p.Ala44Phe)
|
rs1553868919
|
|
NM_020166.5(MCCC1):c.1324G>T (p.Ala442Ser)
|
|
|
NM_020166.5(MCCC1):c.1339G>A (p.Ala447Thr)
|
rs546480708
|
|
NM_020166.5(MCCC1):c.1339G>T (p.Ala447Ser)
|
rs546480708
|
|
NM_020166.5(MCCC1):c.137-10T>G
|
rs1560281403
|
|
NM_020166.5(MCCC1):c.1377+6T>G
|
rs1369902442
|
|
NM_020166.5(MCCC1):c.1385G>T (p.Gly462Val)
|
rs2108470950
|
|
NM_020166.5(MCCC1):c.139A>G (p.Arg47Gly)
|
|
|
NM_020166.5(MCCC1):c.1417C>G (p.Leu473Val)
|
rs565662458
|
|
NM_020166.5(MCCC1):c.1418T>C (p.Leu473Pro)
|
|
|
NM_020166.5(MCCC1):c.1422_1426delinsAA (p.Gly475_His476delinsAsn)
|
rs1560219885
|
|
NM_020166.5(MCCC1):c.1444G>A (p.Gly482Arg)
|
rs1290771044
|
|
NM_020166.5(MCCC1):c.1450G>C (p.Val484Leu)
|
|
|
NM_020166.5(MCCC1):c.1481A>T (p.Lys494Ile)
|
|
|
NM_020166.5(MCCC1):c.1495A>G (p.Ser499Gly)
|
|
|
NM_020166.5(MCCC1):c.1508C>A (p.Ala503Glu)
|
|
|
NM_020166.5(MCCC1):c.1517A>C (p.Glu506Ala)
|
|
|
NM_020166.5(MCCC1):c.1580C>T (p.Thr527Ile)
|
|
|
NM_020166.5(MCCC1):c.1594+3A>G
|
|
|
NM_020166.5(MCCC1):c.1619G>A (p.Ser540Asn)
|
|
|
NM_020166.5(MCCC1):c.1630A>G (p.Arg544Gly)
|
|
|
NM_020166.5(MCCC1):c.1643C>T (p.Ser548Leu)
|
|
|
NM_020166.5(MCCC1):c.1645T>C (p.Tyr549His)
|
|
|
NM_020166.5(MCCC1):c.1657A>G (p.Met553Val)
|
|
|
NM_020166.5(MCCC1):c.1658T>A (p.Met553Lys)
|
rs774055789
|
|
NM_020166.5(MCCC1):c.1681+2dup
|
|
|
NM_020166.5(MCCC1):c.170G>A (p.Arg57Lys)
|
|
|
NM_020166.5(MCCC1):c.1721A>G (p.Tyr574Cys)
|
|
|
NM_020166.5(MCCC1):c.1782C>G (p.Asp594Glu)
|
|
|
NM_020166.5(MCCC1):c.17C>T (p.Ala6Val)
|
|
|
NM_020166.5(MCCC1):c.1802C>T (p.Ser601Phe)
|
rs1352360605
|
|
NM_020166.5(MCCC1):c.1843G>C (p.Glu615Gln)
|
rs2108441391
|
|
NM_020166.5(MCCC1):c.188G>A (p.Arg63Lys)
|
rs2108565998
|
|
NM_020166.5(MCCC1):c.1909T>G (p.Leu637Val)
|
|
|
NM_020166.5(MCCC1):c.1970T>C (p.Ile657Thr)
|
|
|
NM_020166.5(MCCC1):c.1977+4dup
|
rs1488259395
|
|
NM_020166.5(MCCC1):c.1984G>T (p.Val662Phe)
|
|
|
NM_020166.5(MCCC1):c.200C>T (p.Thr67Ile)
|
rs2108565928
|
|
NM_020166.5(MCCC1):c.2024T>C (p.Met675Thr)
|
rs1354787415
|
|
NM_020166.5(MCCC1):c.2030T>G (p.Met677Arg)
|
rs1553849443
|
|
NM_020166.5(MCCC1):c.2045T>G (p.Met682Arg)
|
|
|
NM_020166.5(MCCC1):c.2046G>C (p.Met682Ile)
|
|
|
NM_020166.5(MCCC1):c.2050-2A>G
|
rs2108428908
|
|
NM_020166.5(MCCC1):c.2051A>G (p.His684Arg)
|
rs1553848994
|
|
NM_020166.5(MCCC1):c.2056A>G (p.Ile686Val)
|
rs751755306
|
|
NM_020166.5(MCCC1):c.2115del (p.Asn706fs)
|
rs2108428693
|
|
NM_020166.5(MCCC1):c.2123dup (p.His708fs)
|
rs1404350628
|
|
NM_020166.5(MCCC1):c.215G>C (p.Gly72Ala)
|
rs761521333
|
|
NM_020166.5(MCCC1):c.245C>G (p.Ala82Gly)
|
rs1577363370
|
|
NM_020166.5(MCCC1):c.247G>C (p.Asp83His)
|
rs1485157465
|
|
NM_020166.5(MCCC1):c.256T>C (p.Ser86Pro)
|
rs2108565751
|
|
NM_020166.5(MCCC1):c.260T>G (p.Met87Arg)
|
|
|
NM_020166.5(MCCC1):c.272T>C (p.Met91Thr)
|
rs1333663197
|
|
NM_020166.5(MCCC1):c.273+4T>C
|
rs949646980
|
|
NM_020166.5(MCCC1):c.280G>A (p.Glu94Lys)
|
rs1717925328
|
|
NM_020166.5(MCCC1):c.295G>C (p.Gly99Arg)
|
rs375244642
|
|
NM_020166.5(MCCC1):c.301G>A (p.Ala101Thr)
|
|
|
NM_020166.5(MCCC1):c.320A>G (p.Tyr107Cys)
|
rs144872258
|
|
NM_020166.5(MCCC1):c.328A>G (p.Met110Val)
|
rs1717919066
|
|
NM_020166.5(MCCC1):c.350C>A (p.Ala117Asp)
|
rs754963220
|
|
NM_020166.5(MCCC1):c.359C>T (p.Ser120Phe)
|
rs1307589698
|
|
NM_020166.5(MCCC1):c.365C>T (p.Ala122Val)
|
|
|
NM_020166.5(MCCC1):c.386G>A (p.Cys129Tyr)
|
|
|
NM_020166.5(MCCC1):c.389G>T (p.Gly130Val)
|
rs2108528600
|
|
NM_020166.5(MCCC1):c.401A>G (p.Glu134Gly)
|
rs2108528559
|
|
NM_020166.5(MCCC1):c.415G>A (p.Ala139Thr)
|
rs1436217339
|
|
NM_020166.5(MCCC1):c.437G>C (p.Gly146Ala)
|
|
|
NM_020166.5(MCCC1):c.43G>A (p.Glu15Lys)
|
|
|
NM_020166.5(MCCC1):c.452G>A (p.Gly151Asp)
|
rs2108528467
|
|
NM_020166.5(MCCC1):c.454C>T (p.Pro152Ser)
|
rs1022408190
|
|
NM_020166.5(MCCC1):c.480G>A (p.Met160Ile)
|
|
|
NM_020166.5(MCCC1):c.487A>C (p.Lys163Gln)
|
rs747747680
|
|
NM_020166.5(MCCC1):c.497C>T (p.Ser166Phe)
|
rs2108526692
|
|
NM_020166.5(MCCC1):c.530T>C (p.Val177Ala)
|
rs1716671130
|
|
NM_020166.5(MCCC1):c.59A>G (p.His20Arg)
|
rs751663186
|
|
NM_020166.5(MCCC1):c.5C>A (p.Ala2Glu)
|
|
|
NM_020166.5(MCCC1):c.608T>C (p.Met203Thr)
|
rs1406515651
|
|
NM_020166.5(MCCC1):c.622C>T (p.Arg208Trp)
|
|
|
NM_020166.5(MCCC1):c.626G>A (p.Gly209Asp)
|
rs186209189
|
|
NM_020166.5(MCCC1):c.639+18_639+19insAAGATTGTGCATGCTTCCACCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAA
|
|
|
NM_020166.5(MCCC1):c.639+6A>T
|
|
|
NM_020166.5(MCCC1):c.649A>T (p.Ile217Phe)
|
|
|
NM_020166.5(MCCC1):c.68C>T (p.Pro23Leu)
|
|
|
NM_020166.5(MCCC1):c.700G>A (p.Glu234Lys)
|
rs2108525897
|
|
NM_020166.5(MCCC1):c.730A>G (p.Met244Val)
|
rs369227006
|
|
NM_020166.5(MCCC1):c.762G>C (p.Arg254Ser)
|
rs149389595
|
|
NM_020166.5(MCCC1):c.763C>A (p.His255Asn)
|
rs952365421
|
|
NM_020166.5(MCCC1):c.766G>A (p.Val256Ile)
|
|
|
NM_020166.5(MCCC1):c.801T>A (p.Asn267Lys)
|
|
|
NM_020166.5(MCCC1):c.806T>C (p.Val269Ala)
|
rs1315920706
|
|
NM_020166.5(MCCC1):c.825C>A (p.Asp275Glu)
|
|
|
NM_020166.5(MCCC1):c.826T>G (p.Cys276Gly)
|
|
|
NM_020166.5(MCCC1):c.829A>G (p.Ser277Gly)
|
rs1715498129
|
|
NM_020166.5(MCCC1):c.830G>A (p.Ser277Asn)
|
rs2108505562
|
|
NM_020166.5(MCCC1):c.860A>G (p.Glu287Gly)
|
rs1267237320
|
|
NM_020166.5(MCCC1):c.872C>A (p.Ala291Glu)
|
rs201041864
|
|
NM_020166.5(MCCC1):c.873_873+3dup
|
rs2108505458
|
|
NM_020166.5(MCCC1):c.880A>G (p.Ile294Val)
|
|
|
NM_020166.5(MCCC1):c.916G>T (p.Ala306Ser)
|
rs1191290699
|
|
NM_020166.5(MCCC1):c.925G>A (p.Ala309Thr)
|
rs1715029507
|
|
NM_020166.5(MCCC1):c.928G>C (p.Ala310Pro)
|
|
|
NM_020166.5(MCCC1):c.942T>A (p.Asn314Lys)
|
|
|
NM_020166.5(MCCC1):c.950G>C (p.Gly317Ala)
|
rs1577295874
|
|
NM_020166.5(MCCC1):c.950G>T (p.Gly317Val)
|
rs1577295874
|
|
NM_020166.5(MCCC1):c.955+6T>C
|
|
|
NM_020166.5(MCCC1):c.955G>A (p.Gly319Arg)
|
|
|
NM_020166.5(MCCC1):c.956G>A (p.Gly319Glu)
|
rs2108486818
|
|
NM_020166.5(MCCC1):c.984A>C (p.Lys328Asn)
|
|
|
NM_022132.4(MCCC2):c.1367_1368inv (p.Ala456Val)
|
|
|
NM_022132.5(MCCC2):c.1010G>C (p.Arg337Thr)
|
rs980603424
|
|
NM_022132.5(MCCC2):c.103C>A (p.Pro35Thr)
|
|
|
NM_022132.5(MCCC2):c.1055G>T (p.Gly352Val)
|
|
|
NM_022132.5(MCCC2):c.1073-9T>C
|
|
|
NM_022132.5(MCCC2):c.1082G>A (p.Arg361Gln)
|
rs991211481
|
|
NM_022132.5(MCCC2):c.1100T>C (p.Val367Ala)
|
|
|
NM_022132.5(MCCC2):c.1153A>G (p.Thr385Ala)
|
|
|
NM_022132.5(MCCC2):c.1159T>G (p.Phe387Val)
|
|
|
NM_022132.5(MCCC2):c.1171T>C (p.Cys391Arg)
|
rs781478040
|
|
NM_022132.5(MCCC2):c.1181G>T (p.Arg394Ile)
|
rs531994517
|
|
NM_022132.5(MCCC2):c.1192C>G (p.Leu398Val)
|
|
|
NM_022132.5(MCCC2):c.122T>G (p.Leu41Arg)
|
|
|
NM_022132.5(MCCC2):c.1235A>C (p.Glu412Ala)
|
rs371587906
|
|
NM_022132.5(MCCC2):c.125A>G (p.Tyr42Cys)
|
rs1580262373
|
|
NM_022132.5(MCCC2):c.1273A>G (p.Met425Val)
|
rs766591766
|
|
NM_022132.5(MCCC2):c.1275G>A (p.Met425Ile)
|
rs1747359594
|
|
NM_022132.5(MCCC2):c.1285G>C (p.Val429Leu)
|
rs2112467816
|
|
NM_022132.5(MCCC2):c.129G>A (p.Gln43=)
|
rs1580262388
|
|
NM_022132.5(MCCC2):c.1304C>G (p.Pro435Arg)
|
|
|
NM_022132.5(MCCC2):c.1331C>A (p.Ser444Tyr)
|
|
|
NM_022132.5(MCCC2):c.1438A>G (p.Asn480Asp)
|
rs201060452
|
|
NM_022132.5(MCCC2):c.1471G>A (p.Ala491Thr)
|
|
|
NM_022132.5(MCCC2):c.1489-3T>A
|
|
|
NM_022132.5(MCCC2):c.1493C>T (p.Ser498Phe)
|
|
|
NM_022132.5(MCCC2):c.152C>T (p.Ala51Val)
|
|
|
NM_022132.5(MCCC2):c.1553A>G (p.Asn518Ser)
|
rs1747471598
|
|
NM_022132.5(MCCC2):c.1565C>T (p.Ser522Phe)
|
rs1747472048
|
|
NM_022132.5(MCCC2):c.1570G>A (p.Ala524Thr)
|
|
|
NM_022132.5(MCCC2):c.1570G>C (p.Ala524Pro)
|
rs774241918
|
|
NM_022132.5(MCCC2):c.1574+3G>T
|
|
|
NM_022132.5(MCCC2):c.1574+5G>T
|
rs781483923
|
|
NM_022132.5(MCCC2):c.1590_1591delinsTT (p.Ile531Phe)
|
rs2112478243
|
|
NM_022132.5(MCCC2):c.1601C>G (p.Pro534Arg)
|
|
|
NM_022132.5(MCCC2):c.1631G>A (p.Ser544Asn)
|
|
|
NM_022132.5(MCCC2):c.1639G>A (p.Ala547Thr)
|
rs758806872
|
|
NM_022132.5(MCCC2):c.1651G>A (p.Ala551Thr)
|
|
|
NM_022132.5(MCCC2):c.1670A>C (p.Asp557Ala)
|
|
|
NM_022132.5(MCCC2):c.1672T>C (p.Phe558Leu)
|
rs2112478390
|
|
NM_022132.5(MCCC2):c.1674del (p.Phe558fs)
|
rs1747594910
|
|
NM_022132.5(MCCC2):c.170A>G (p.His57Arg)
|
|
|
NM_022132.5(MCCC2):c.185A>G (p.His62Arg)
|
rs1745040815
|
|
NM_022132.5(MCCC2):c.196+3A>G
|
rs751519858
|
|
NM_022132.5(MCCC2):c.197-9C>G
|
rs2112293394
|
|
NM_022132.5(MCCC2):c.226A>T (p.Ile76Leu)
|
rs140027063
|
|
NM_022132.5(MCCC2):c.248C>G (p.Pro83Arg)
|
rs1414470105
|
|
NM_022132.5(MCCC2):c.250A>G (p.Arg84Gly)
|
rs1745187009
|
|
NM_022132.5(MCCC2):c.286C>G (p.Pro96Ala)
|
rs770208071
|
|
NM_022132.5(MCCC2):c.295G>A (p.Glu99Lys)
|
rs119103219
|
|
NM_022132.5(MCCC2):c.332A>G (p.Asn111Ser)
|
|
|
NM_022132.5(MCCC2):c.335AGG[1] (p.Glu113del)
|
|
|
NM_022132.5(MCCC2):c.351_353del (p.Gly118del)
|
rs758794885
|
|
NM_022132.5(MCCC2):c.365G>A (p.Gly122Asp)
|
|
|
NM_022132.5(MCCC2):c.38C>G (p.Ala13Gly)
|
|
|
NM_022132.5(MCCC2):c.396G>A (p.Met132Ile)
|
|
|
NM_022132.5(MCCC2):c.422A>G (p.Lys141Arg)
|
|
|
NM_022132.5(MCCC2):c.430G>T (p.Ala144Ser)
|
rs1468231692
|
|
NM_022132.5(MCCC2):c.433T>G (p.Tyr145Asp)
|
rs1745481314
|
|
NM_022132.5(MCCC2):c.437A>G (p.Tyr146Cys)
|
rs2112320371
|
|
NM_022132.5(MCCC2):c.455A>C (p.Lys152Thr)
|
rs1554134065
|
|
NM_022132.5(MCCC2):c.457C>A (p.Gln153Lys)
|
|
|
NM_022132.5(MCCC2):c.479C>G (p.Ala160Gly)
|
rs2112320728
|
|
NM_022132.5(MCCC2):c.544G>A (p.Ala182Thr)
|
|
|
NM_022132.5(MCCC2):c.554T>C (p.Phe185Ser)
|
|
|
NM_022132.5(MCCC2):c.557_560delinsTTGTCGAGGTAAGTGT (p.Pro186_Asp187delinsLeuValGluValSerVal)
|
rs797044772
|
|
NM_022132.5(MCCC2):c.560A>G (p.Asp187Gly)
|
|
|
NM_022132.5(MCCC2):c.567C>A (p.Asp189Glu)
|
rs575600077
|
|
NM_022132.5(MCCC2):c.583T>C (p.Phe195Leu)
|
|
|
NM_022132.5(MCCC2):c.598A>G (p.Ile200Val)
|
rs2112329325
|
|
NM_022132.5(MCCC2):c.617T>C (p.Ile206Thr)
|
rs1745586663
|
|
NM_022132.5(MCCC2):c.619G>T (p.Ala207Ser)
|
rs2112329415
|
|
NM_022132.5(MCCC2):c.632T>G (p.Val211Gly)
|
|
|
NM_022132.5(MCCC2):c.670C>A (p.Pro224Thr)
|
|
|
NM_022132.5(MCCC2):c.703A>G (p.Lys235Glu)
|
|
|
NM_022132.5(MCCC2):c.728G>C (p.Gly243Ala)
|
rs770351523
|
|
NM_022132.5(MCCC2):c.738+2dup
|
rs2112412775
|
|
NM_022132.5(MCCC2):c.738+6A>G
|
|
|
NM_022132.5(MCCC2):c.748G>A (p.Ala250Thr)
|
|
|
NM_022132.5(MCCC2):c.793C>G (p.Leu265Val)
|
|
|
NM_022132.5(MCCC2):c.794T>C (p.Leu265Pro)
|
rs1746740255
|
|
NM_022132.5(MCCC2):c.802A>G (p.Arg268Gly)
|
rs756477001
|
|
NM_022132.5(MCCC2):c.803+6A>G
|
|
|
NM_022132.5(MCCC2):c.811G>A (p.Gly271Arg)
|
rs2112437351
|
|
NM_022132.5(MCCC2):c.903+4A>T
|
|
|
NM_022132.5(MCCC2):c.962T>C (p.Val321Ala)
|
|
|
NM_022132.5(MCCC2):c.973C>T (p.Leu325Phe)
|
rs2112438464
|
|
NM_022132.5(MCCC2):c.986T>C (p.Phe329Ser)
|
rs2112438533
|
|
NM_022132.5(MCCC2):c.98C>T (p.Thr33Ile)
|
rs2112251506
|
|
NM_022132.5(MCCC2):c.999G>T (p.Glu333Asp)
|
rs1487531101
|
|
NM_025136.4(OPA3):c.115A>G (p.Thr39Ala)
|
|
|
NM_025136.4(OPA3):c.121A>G (p.Ile41Val)
|
|
|
NM_025136.4(OPA3):c.127C>G (p.Leu43Val)
|
rs2122529195
|
|
NM_025136.4(OPA3):c.131C>T (p.Pro44Leu)
|
rs2122529178
|
|
NM_025136.4(OPA3):c.136G>A (p.Ala46Thr)
|
|
|
NM_025136.4(OPA3):c.142+2_142+3dup
|
rs1555736791
|
|
NM_025136.4(OPA3):c.142+3_142+6del
|
|
|
NM_025136.4(OPA3):c.142+4A>T
|
rs765495449
|
|
NM_025136.4(OPA3):c.145T>C (p.Tyr49His)
|
rs1384629048
|
|
NM_025136.4(OPA3):c.170A>G (p.Lys57Arg)
|
|
|
NM_025136.4(OPA3):c.17T>C (p.Phe6Ser)
|
rs2122529643
|
|
NM_025136.4(OPA3):c.182T>C (p.Met61Thr)
|
rs1052079541
|
|
NM_025136.4(OPA3):c.201del (p.Ile68fs)
|
|
|
NM_025136.4(OPA3):c.206A>C (p.Lys69Thr)
|
rs760083523
|
|
NM_025136.4(OPA3):c.206_258del (p.Lys69fs)
|
rs2122440115
|
|
NM_025136.4(OPA3):c.212T>C (p.Leu71Pro)
|
|
|
NM_025136.4(OPA3):c.217dup (p.Glu73fs)
|
rs1555732963
|
|
NM_025136.4(OPA3):c.220G>A (p.Glu74Lys)
|
|
|
NM_025136.4(OPA3):c.220G>T (p.Glu74Ter)
|
|
|
NM_025136.4(OPA3):c.226G>T (p.Ala76Ser)
|
|
|
NM_025136.4(OPA3):c.238G>A (p.Gly80Ser)
|
|
|
NM_025136.4(OPA3):c.239G>T (p.Gly80Val)
|
rs2122440257
|
|
NM_025136.4(OPA3):c.23T>C (p.Met8Thr)
|
|
|
NM_025136.4(OPA3):c.244G>T (p.Glu82Ter)
|
|
|
NM_025136.4(OPA3):c.24G>A (p.Met8Ile)
|
|
|
NM_025136.4(OPA3):c.253G>C (p.Gly85Arg)
|
|
|
NM_025136.4(OPA3):c.254G>A (p.Gly85Asp)
|
rs1599964721
|
|
NM_025136.4(OPA3):c.256G>A (p.Glu86Lys)
|
|
|
NM_025136.4(OPA3):c.25G>A (p.Ala9Thr)
|
|
|
NM_025136.4(OPA3):c.265A>G (p.Ile89Val)
|
|
|
NM_025136.4(OPA3):c.274G>A (p.Val92Met)
|
rs752893027
|
|
NM_025136.4(OPA3):c.275T>C (p.Val92Ala)
|
|
|
NM_025136.4(OPA3):c.289C>G (p.Leu97Val)
|
|
|
NM_025136.4(OPA3):c.293T>G (p.Val98Gly)
|
rs967310075
|
|
NM_025136.4(OPA3):c.296T>G (p.Leu99Arg)
|
rs1555732924
|
|
NM_025136.4(OPA3):c.304T>G (p.Trp102Gly)
|
|
|
NM_025136.4(OPA3):c.30G>C (p.Lys10Asn)
|
|
|
NM_025136.4(OPA3):c.313C>A (p.Gln105Lys)
|
rs80356525
|
|
NM_025136.4(OPA3):c.313C>T (p.Gln105Ter)
|
|
|
NM_025136.4(OPA3):c.316G>A (p.Ala106Thr)
|
|
|
NM_025136.4(OPA3):c.317C>T (p.Ala106Val)
|
rs764633370
|
|
NM_025136.4(OPA3):c.337G>A (p.Glu113Lys)
|
|
|
NM_025136.4(OPA3):c.34C>G (p.Leu12Val)
|
|
|
NM_025136.4(OPA3):c.352G>C (p.Ala118Pro)
|
|
|
NM_025136.4(OPA3):c.360C>A (p.Asn120Lys)
|
|
|
NM_025136.4(OPA3):c.362C>T (p.Ala121Val)
|
|
|
NM_025136.4(OPA3):c.368_369delinsCT (p.Arg123Pro)
|
|
|
NM_025136.4(OPA3):c.373G>C (p.Glu125Gln)
|
|
|
NM_025136.4(OPA3):c.374A>T (p.Glu125Val)
|
|
|
NM_025136.4(OPA3):c.380G>A (p.Gly127Asp)
|
|
|
NM_025136.4(OPA3):c.383_385dup (p.His128_Leu129insHis)
|
|
|
NM_025136.4(OPA3):c.392T>A (p.Leu131Gln)
|
|
|
NM_025136.4(OPA3):c.395C>A (p.Ala132Glu)
|
rs758982194
|
|
NM_025136.4(OPA3):c.395C>T (p.Ala132Val)
|
|
|
NM_025136.4(OPA3):c.40T>G (p.Leu14Val)
|
|
|
NM_025136.4(OPA3):c.410A>C (p.Gln137Pro)
|
rs372161100
|
|
NM_025136.4(OPA3):c.417G>C (p.Gln139His)
|
|
|
NM_025136.4(OPA3):c.423_424delinsCT (p.Gln141_Ala142delinsHisSer)
|
|
|
NM_025136.4(OPA3):c.424G>C (p.Ala142Pro)
|
rs535683352
|
|
NM_025136.4(OPA3):c.425C>T (p.Ala142Val)
|
rs2122438899
|
|
NM_025136.4(OPA3):c.427G>C (p.Ala143Pro)
|
|
|
NM_025136.4(OPA3):c.429_430delinsAA (p.Pro144Thr)
|
|
|
NM_025136.4(OPA3):c.431C>A (p.Pro144Gln)
|
rs775398472
|
|
NM_025136.4(OPA3):c.431C>G (p.Pro144Arg)
|
|
|
NM_025136.4(OPA3):c.433C>T (p.Pro145Ser)
|
|
|
NM_025136.4(OPA3):c.434C>T (p.Pro145Leu)
|
|
|
NM_025136.4(OPA3):c.436C>A (p.Gln146Lys)
|
|
|
NM_025136.4(OPA3):c.437A>G (p.Gln146Arg)
|
|
|
NM_025136.4(OPA3):c.439_440del (p.Gly147fs)
|
|
|
NM_025136.4(OPA3):c.448G>C (p.Glu150Gln)
|
|
|
NM_025136.4(OPA3):c.455T>C (p.Leu152Pro)
|
|
|
NM_025136.4(OPA3):c.458G>T (p.Arg153Leu)
|
|
|
NM_025136.4(OPA3):c.469C>G (p.Gln157Glu)
|
|
|
NM_025136.4(OPA3):c.472G>A (p.Glu158Lys)
|
|
|
NM_025136.4(OPA3):c.484C>G (p.Gln162Glu)
|
|
|
NM_025136.4(OPA3):c.484C>T (p.Gln162Ter)
|
|
|
NM_025136.4(OPA3):c.494A>G (p.Asn165Ser)
|
|
|
NM_025136.4(OPA3):c.502C>T (p.Arg168Trp)
|
rs750946088
|
|
NM_025136.4(OPA3):c.514C>T (p.His172Tyr)
|
rs1293731096
|
|
NM_025136.4(OPA3):c.517G>A (p.Ala173Thr)
|
|
|
NM_025136.4(OPA3):c.532A>G (p.Lys178Glu)
|
rs767372876
|
|
NM_025136.4(OPA3):c.55G>A (p.Val19Ile)
|
rs1343690502
|
|
NM_025136.4(OPA3):c.73A>G (p.Asn25Asp)
|
|
|
NM_025136.4(OPA3):c.77G>T (p.Arg26Leu)
|
rs1302916174
|
|
NM_025136.4(OPA3):c.7G>C (p.Val3Leu)
|
|
|
NM_025136.4(OPA3):c.81del (p.Lys28fs)
|
|
|
NM_025136.4(OPA3):c.87G>T (p.Glu29Asp)
|
rs1194417590
|
|
NM_025136.4(OPA3):c.89C>T (p.Ala30Val)
|
|
|
NM_025136.4(OPA3):c.91G>C (p.Ala31Pro)
|
|
|
NM_025136.4(OPA3):c.94C>T (p.Arg32Cys)
|
|
|
NM_030813.6(CLPB):c.675C>A (p.His225Gln)
|
rs2135658006
|
|
NM_030813.6(CLPB):c.736G>A (p.Val246Ile)
|
|
|
NM_032861.4(SERAC1):c.1003A>G (p.Ile335Val)
|
|
|
NM_032861.4(SERAC1):c.1009C>T (p.Arg337Cys)
|
|
|
NM_032861.4(SERAC1):c.1166G>A (p.Ser389Asn)
|
|
|
NM_032861.4(SERAC1):c.118C>T (p.Leu40Phe)
|
|
|
NM_032861.4(SERAC1):c.1195A>G (p.Ile399Val)
|
|
|
NM_032861.4(SERAC1):c.1203C>A (p.Gly401=)
|
|
|
NM_032861.4(SERAC1):c.1272G>A (p.Met424Ile)
|
|
|
NM_032861.4(SERAC1):c.1308+6G>A
|
|
|
NM_032861.4(SERAC1):c.1334C>A (p.Ala445Asp)
|
rs553879407
|
|
NM_032861.4(SERAC1):c.1364C>G (p.Thr455Ser)
|
rs767870142
|
|
NM_032861.4(SERAC1):c.1365C>T (p.Thr455=)
|
|
|
NM_032861.4(SERAC1):c.1374C>T (p.Ser458=)
|
|
|
NM_032861.4(SERAC1):c.1375G>A (p.Asp459Asn)
|
rs189064007
|
|
NM_032861.4(SERAC1):c.1396A>G (p.Met466Val)
|
|
|
NM_032861.4(SERAC1):c.1491T>A (p.His497Gln)
|
rs1064796860
|
|
NM_032861.4(SERAC1):c.1501+4A>C
|
rs755406082
|
|
NM_032861.4(SERAC1):c.1501+4A>G
|
rs755406082
|
|
NM_032861.4(SERAC1):c.1501+5G>A
|
|
|
NM_032861.4(SERAC1):c.1505T>G (p.Leu502Arg)
|
rs2128410682
|
|
NM_032861.4(SERAC1):c.1519_1521dup (p.Met507_Leu508insMet)
|
|
|
NM_032861.4(SERAC1):c.152A>G (p.Glu51Gly)
|
|
|
NM_032861.4(SERAC1):c.1628C>T (p.Ser543Phe)
|
|
|
NM_032861.4(SERAC1):c.1720C>G (p.Leu574Val)
|
|
|
NM_032861.4(SERAC1):c.1766A>C (p.Glu589Ala)
|
|
|
NM_032861.4(SERAC1):c.1793T>C (p.Met598Thr)
|
|
|
NM_032861.4(SERAC1):c.1825G>A (p.Ala609Thr)
|
|
|
NM_032861.4(SERAC1):c.1829-6C>G
|
|
|
NM_032861.4(SERAC1):c.1839T>A (p.Ile613=)
|
|
|
NM_032861.4(SERAC1):c.1916G>A (p.Arg639His)
|
rs768913919
|
|
NM_032861.4(SERAC1):c.1916G>C (p.Arg639Pro)
|
rs768913919
|
|
NM_032861.4(SERAC1):c.1926_1930del (p.Gln642fs)
|
|
|
NM_032861.4(SERAC1):c.1934G>A (p.Arg645His)
|
|
|
NM_032861.4(SERAC1):c.194T>C (p.Val65Ala)
|
|
|
NM_032861.4(SERAC1):c.1962C>G (p.Asn654Lys)
|
rs1784140439
|
|
NM_032861.4(SERAC1):c.1963_*1del (p.Ter655SerextTer?)
|
|
|
NM_032861.4(SERAC1):c.1965A>G (p.Ter655=)
|
|
|
NM_032861.4(SERAC1):c.203G>A (p.Arg68Gln)
|
rs1384614641
|
|
NM_032861.4(SERAC1):c.206A>G (p.Glu69Gly)
|
rs2128422343
|
|
NM_032861.4(SERAC1):c.21C>G (p.Cys7Trp)
|
rs139301835
|
|
NM_032861.4(SERAC1):c.254G>A (p.Gly85Glu)
|
rs376468988
|
|
NM_032861.4(SERAC1):c.301G>A (p.Ala101Thr)
|
|
|
NM_032861.4(SERAC1):c.340C>T (p.Arg114Trp)
|
|
|
NM_032861.4(SERAC1):c.341G>A (p.Arg114Gln)
|
|
|
NM_032861.4(SERAC1):c.412C>T (p.Arg138Trp)
|
|
|
NM_032861.4(SERAC1):c.429T>A (p.Asp143Glu)
|
|
|
NM_032861.4(SERAC1):c.44G>A (p.Gly15Glu)
|
rs1785406112
|
|
NM_032861.4(SERAC1):c.458G>A (p.Arg153Gln)
|
|
|
NM_032861.4(SERAC1):c.488-3T>G
|
rs2128420377
|
|
NM_032861.4(SERAC1):c.536T>C (p.Ile179Thr)
|
|
|
NM_032861.4(SERAC1):c.566T>C (p.Leu189Pro)
|
|
|
NM_032861.4(SERAC1):c.566T>G (p.Leu189Arg)
|
rs576602246
|
|
NM_032861.4(SERAC1):c.568C>T (p.Arg190Cys)
|
rs564717592
|
|
NM_032861.4(SERAC1):c.719A>G (p.Gln240Arg)
|
|
|
NM_032861.4(SERAC1):c.734A>G (p.Gln245Arg)
|
|
|
NM_032861.4(SERAC1):c.738+5G>C
|
|
|
NM_032861.4(SERAC1):c.772C>T (p.Pro258Ser)
|
rs571113650
|
|
NM_032861.4(SERAC1):c.808A>G (p.Thr270Ala)
|
|
|
NM_032861.4(SERAC1):c.819G>A (p.Met273Ile)
|
|
|
NM_032861.4(SERAC1):c.821T>C (p.Phe274Ser)
|
|
|
NM_032861.4(SERAC1):c.863A>C (p.His288Pro)
|
|
|
NM_032861.4(SERAC1):c.86A>G (p.Asp29Gly)
|
rs779737059
|
|
NM_032861.4(SERAC1):c.871A>G (p.Lys291Glu)
|
|
|
NM_032861.4(SERAC1):c.931T>C (p.Cys311Arg)
|
rs2128415147
|
|
NM_032861.4(SERAC1):c.940G>T (p.Val314Leu)
|
|
|
NM_032861.4(SERAC1):c.958C>T (p.Arg320Cys)
|
|
|
NM_052845.4(MMAB):c.161G>A (p.Arg54Lys)
|
rs2136210801
|
|
NM_052845.4(MMAB):c.19GGGAGCCGTCTTGGCCTG[1] (p.7GSRLGL[1])
|
rs770077320
|
|
NM_052845.4(MMAB):c.206G>C (p.Ser69Thr)
|
rs147297426
|
|
NM_052845.4(MMAB):c.222A>T (p.Glu74Asp)
|
rs1389815526
|
|
NM_052845.4(MMAB):c.248T>C (p.Phe83Ser)
|
rs1185132313
|
|
NM_052845.4(MMAB):c.249T>G (p.Phe83Leu)
|
rs2136208348
|
|
NM_052845.4(MMAB):c.339G>C (p.Glu113Asp)
|
rs2136203868
|
|
NM_052845.4(MMAB):c.406C>A (p.Arg136=)
|
rs763783083
|
|
NM_052845.4(MMAB):c.425A>C (p.Tyr142Ser)
|
|
|
NM_052845.4(MMAB):c.430A>G (p.Thr144Ala)
|
|
|
NM_052845.4(MMAB):c.43C>T (p.Arg15Cys)
|
rs921232728
|
|
NM_052845.4(MMAB):c.490C>T (p.Leu164Phe)
|
rs1393437649
|
|
NM_052845.4(MMAB):c.519+13C>T
|
|
|
NM_052845.4(MMAB):c.519+17C>T
|
rs1884195985
|
|
NM_052845.4(MMAB):c.541G>A (p.Ala181Thr)
|
rs1439180009
|
|
NM_052845.4(MMAB):c.554G>A (p.Cys185Tyr)
|
rs767774574
|
|
NM_052845.4(MMAB):c.569G>T (p.Arg190Leu)
|
|
|
NM_052845.4(MMAB):c.604A>G (p.Met202Val)
|
rs1884098738
|
|
NM_052845.4(MMAB):c.616G>A (p.Asp206Asn)
|
|
|
NM_052845.4(MMAB):c.652G>A (p.Asp218Asn)
|
|
|
NM_052845.4(MMAB):c.66C>G (p.Phe22Leu)
|
|
|
NM_052845.4(MMAB):c.676T>C (p.Tyr226His)
|
|
|
NM_052845.4(MMAB):c.689A>C (p.Lys230Thr)
|
|
|
NM_052845.4(MMAB):c.731C>T (p.Ser244Leu)
|
|
|
NM_145261.4(DNAJC19):c.121_126del (p.Pro41_Lys42del)
|
|
|
NM_145261.4(DNAJC19):c.136A>G (p.Ser46Gly)
|
|
|
NM_145261.4(DNAJC19):c.145T>C (p.Tyr49His)
|
|
|
NM_145261.4(DNAJC19):c.198A>G (p.Ile66Met)
|
|
|
NM_145261.4(DNAJC19):c.203G>A (p.Gly68Asp)
|
|
|
NM_145261.4(DNAJC19):c.203G>T (p.Gly68Val)
|
rs2108508819
|
|
NM_145261.4(DNAJC19):c.210-14_210-11del
|
|
|
NM_145261.4(DNAJC19):c.217G>A (p.Ala73Thr)
|
|
|
NM_145261.4(DNAJC19):c.221A>G (p.Asn74Ser)
|
rs1218208437
|
|
NM_145261.4(DNAJC19):c.226G>A (p.Gly76Arg)
|
|
|
NM_145261.4(DNAJC19):c.246T>A (p.His82Gln)
|
|
|
NM_145261.4(DNAJC19):c.251G>A (p.Arg84Gln)
|
|
|
NM_145261.4(DNAJC19):c.259C>T (p.Leu87Phe)
|
rs1714880831
|
|
NM_145261.4(DNAJC19):c.280+4_280+7del
|
|
|
NM_145261.4(DNAJC19):c.295dup (p.Ile99fs)
|
|
|
NM_145261.4(DNAJC19):c.2T>C (p.Met1Thr)
|
|
|
NM_145261.4(DNAJC19):c.316G>A (p.Ala106Thr)
|
|
|
NM_145261.4(DNAJC19):c.325T>G (p.Leu109Val)
|
rs2108506959
|
|
NM_145261.4(DNAJC19):c.32C>T (p.Thr11Ile)
|
rs1715007911
|
|
NM_145261.4(DNAJC19):c.331G>A (p.Glu111Lys)
|
|
|
NM_145261.4(DNAJC19):c.332A>C (p.Glu111Ala)
|
|
|
NM_145261.4(DNAJC19):c.348del (p.Lys116fs)
|
rs1714802157
|
|
NM_145261.4(DNAJC19):c.41C>T (p.Ala14Val)
|
|
|
NM_145261.4(DNAJC19):c.4G>A (p.Ala2Thr)
|
|
|
NM_145261.4(DNAJC19):c.55+5G>C
|
rs1454974888
|
|
NM_145261.4(DNAJC19):c.64G>A (p.Val22Ile)
|
|
|
NM_145261.4(DNAJC19):c.73G>A (p.Ala25Thr)
|
rs2108509645
|
|
NM_172250.3(MMAA):c.1037A>G (p.Gln346Arg)
|
|
|
NM_172250.3(MMAA):c.1048C>T (p.Leu350Phe)
|
rs866580843
|
|
NM_172250.3(MMAA):c.1120del (p.Ser374fs)
|
|
|
NM_172250.3(MMAA):c.1135T>C (p.Phe379Leu)
|
rs1728200540
|
|
NM_172250.3(MMAA):c.1142C>T (p.Thr381Ile)
|
rs1057520160
|
|
NM_172250.3(MMAA):c.1156C>T (p.Arg386Trp)
|
|
|
NM_172250.3(MMAA):c.1162C>T (p.Gln388Ter)
|
|
|
NM_172250.3(MMAA):c.1198G>T (p.Ala400Ser)
|
rs895867414
|
|
NM_172250.3(MMAA):c.128C>T (p.Pro43Leu)
|
rs886059088
|
|
NM_172250.3(MMAA):c.185A>G (p.Lys62Arg)
|
|
|
NM_172250.3(MMAA):c.284A>G (p.Gln95Arg)
|
|
|
NM_172250.3(MMAA):c.314T>C (p.Ile105Thr)
|
|
|
NM_172250.3(MMAA):c.335A>G (p.His112Arg)
|
rs2126617469
|
|
NM_172250.3(MMAA):c.346A>C (p.Lys116Gln)
|
|
|
NM_172250.3(MMAA):c.362T>C (p.Val121Ala)
|
|
|
NM_172250.3(MMAA):c.457G>A (p.Gly153Ser)
|
|
|
NM_172250.3(MMAA):c.509G>C (p.Arg170Thr)
|
|
|
NM_172250.3(MMAA):c.541C>G (p.Pro181Ala)
|
|
|
NM_172250.3(MMAA):c.562+4A>C
|
rs1336573288
|
|
NM_172250.3(MMAA):c.599T>C (p.Leu200Ser)
|
|
|
NM_172250.3(MMAA):c.664A>G (p.Arg222Gly)
|
rs920825350
|
|
NM_172250.3(MMAA):c.691T>C (p.Cys231Arg)
|
rs2126622891
|
|
NM_172250.3(MMAA):c.730G>T (p.Val244Phe)
|
rs771044996
|
|
NM_172250.3(MMAA):c.761C>T (p.Ala254Val)
|
|
|
NM_172250.3(MMAA):c.776T>C (p.Met259Thr)
|
rs1328403056
|
|
NM_172250.3(MMAA):c.800C>T (p.Ala267Val)
|
rs138854691
|
|
NM_172250.3(MMAA):c.889G>A (p.Val297Met)
|
|
|