ClinVar Miner

List of variants reported as uncertain significance for classic organic aciduria

Included ClinVar conditions (46):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4950
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HGVS dbSNP gnomAD frequency
NM_000116.5(TAFAZZIN):c.110-17= rs62617809 0.99999
NM_022132.5(MCCC2):c.*1243G>C rs7731970 0.80030
NM_001370658.1(BTD):c.1270G>C (p.Asp424His) rs13078881 0.03225
NM_025136.4(OPA3):c.*1836C>T rs74717111 0.01070
NM_001370658.1(BTD):c.73G>A (p.Gly25Arg) rs34885143 0.01036
NM_172250.3(MMAA):c.*600G>A rs112882351 0.00820
NM_025136.4(OPA3):c.*4853T>A rs886054516 0.00709
NM_001370658.1(BTD):c.585C>T (p.Leu195=) rs145388314 0.00669
NM_025136.4(OPA3):c.*6767G>A rs142898530 0.00668
NM_000019.4(ACAT1):c.941-14C>T rs12801620 0.00658
NM_000282.4(PCCA):c.1651G>T (p.Val551Phe) rs61749895 0.00606
NM_052845.4(MMAB):c.*3019A>G rs78065254 0.00564
NM_025136.4(OPA3):c.*6442A>G rs76825983 0.00518
NM_002225.5(IVD):c.*2630G>A rs28654574 0.00497
NM_000255.4(MMUT):c.*278A>G rs182726681 0.00484
NM_025136.4(OPA3):c.*1642A>G rs144894771 0.00484
NM_172250.3(MMAA):c.*2807C>T rs7675466 0.00480
NM_000255.4(MMUT):c.1629C>T (p.Ser543=) rs150642856 0.00479
NM_025136.4(OPA3):c.*4954C>T rs146646433 0.00462
NM_025136.4(OPA3):c.*6208C>T rs139798464 0.00458
NM_025136.4(OPA3):c.*398G>T rs183851663 0.00449
NM_025136.4(OPA3):c.*3117C>T rs569595277 0.00427
NM_172250.3(MMAA):c.*541A>G rs114729477 0.00424
NM_022132.5(MCCC2):c.-38G>A rs186132078 0.00403
NM_001370658.1(BTD):c.*211G>A rs78601074 0.00384
NM_001609.4(ACADSB):c.*2803T>C rs187253795 0.00365
NM_025136.4(OPA3):c.*2101A>T rs139606810 0.00363
NM_025136.4(OPA3):c.*6101A>G rs187296782 0.00363
NM_022132.5(MCCC2):c.*526C>T rs181669670 0.00339
NM_172250.3(MMAA):c.*1966C>T rs147742767 0.00337
NM_025136.4(OPA3):c.*80G>T rs540023428 0.00315
NM_052845.4(MMAB):c.*3295C>T rs144430513 0.00304
NM_172250.3(MMAA):c.*4326A>T rs182426004 0.00304
NM_052845.4(MMAB):c.*1088A>T rs142486697 0.00303
NM_001017989.3(OPA3):c.143-16812G>A rs192699227 0.00300
NM_001609.4(ACADSB):c.*808G>C rs41299169 0.00297
NM_000282.4(PCCA):c.231+15C>T rs202049874 0.00291
NM_172250.3(MMAA):c.*1610C>T rs185925141 0.00285
NM_000255.4(MMUT):c.*627C>T rs534290000 0.00272
NM_025136.4(OPA3):c.*5944G>A rs190885103 0.00271
NM_001352514.2(HLCS):c.*3159_*3162del rs535525635 0.00270
NM_022132.5(MCCC2):c.1439A>G (p.Asn480Ser) rs115328026 0.00266
NM_022132.5(MCCC2):c.599T>A (p.Ile200Asn) rs140806722 0.00262
NM_000255.4(MMUT):c.*126A>G rs192605776 0.00255
NM_000255.4(MMUT):c.*558A>G rs111322712 0.00254
NM_052845.4(MMAB):c.*1685G>A rs117011771 0.00244
NM_172250.3(MMAA):c.*4533C>T rs114762906 0.00244
NM_000255.4(MMUT):c.205A>G (p.Ile69Val) rs115923556 0.00243
NM_000255.4(MMUT):c.*257A>C rs187747098 0.00235
NM_001352514.2(HLCS):c.1074G>A (p.Thr358=) rs116985497 0.00235
NM_172250.3(MMAA):c.*188A>G rs886059091 0.00233
NM_020166.5(MCCC1):c.*1A>T rs115605600 0.00230
NM_025136.4(OPA3):c.*6554G>A rs184177890 0.00229
NM_052845.4(MMAB):c.*1067C>T rs143292900 0.00226
NM_025136.4(OPA3):c.*3755G>A rs555830952 0.00225
NM_001017989.3(OPA3):c.184G>A (p.Gly62Ser) rs140959406 0.00223
NM_025136.4(OPA3):c.*540G>T rs149360920 0.00220
NM_000282.4(PCCA):c.1236A>G (p.Pro412=) rs41281120 0.00219
NM_025136.4(OPA3):c.*5510G>A rs180756622 0.00213
NM_001352514.2(HLCS):c.*590A>G rs148195019 0.00207
NM_000532.5(PCCB):c.*44C>T rs201452852 0.00197
NM_000191.3(HMGCL):c.*104G>A rs552915017 0.00185
NM_025136.3(OPA3):c.-113T>C rs139731330 0.00185
NM_025136.4(OPA3):c.*422C>T rs116977551 0.00184
NM_015702.3(MMADHC):c.646C>G (p.Arg216Gly) rs141093638 0.00181
NM_000255.4(MMUT):c.-78C>A rs553218776 0.00178
NM_000255.4(MMUT):c.-79G>A rs184509406 0.00178
NM_172250.3(MMAA):c.*97G>C rs148424051 0.00178
NM_000532.5(PCCB):c.49C>A (p.Leu17Met) rs200185747 0.00172
NM_001352514.2(HLCS):c.*1856T>C rs151042283 0.00171
NM_022132.5(MCCC2):c.1217-7C>G rs148369119 0.00171
NM_172250.3(MMAA):c.*3325C>T rs529131828 0.00170
NM_022132.5(MCCC2):c.*191A>T rs142332769 0.00169
NM_001081.4(CUBN):c.10119C>A (p.Val3373=) rs139596037 0.00168
NM_001370658.1(BTD):c.202C>G (p.Gln68Glu) rs151071780 0.00167
NM_172250.3(MMAA):c.-66+10G>C rs546775043 0.00165
NM_172250.3(MMAA):c.-14C>T rs138947726 0.00164
NM_000255.4(MMUT):c.1125G>A (p.Met375Ile) rs148091558 0.00163
NM_000532.5(PCCB):c.774C>G (p.His258Gln) rs141615209 0.00163
NM_005050.4(ABCD4):c.1411C>T (p.Arg471Trp) rs45568335 0.00163
NM_052845.4(MMAB):c.*2342G>A rs72650176 0.00162
NM_000282.4(PCCA):c.1558A>T (p.Ser520Cys) rs112237881 0.00159
NM_001081.4(CUBN):c.*436C>A rs574512019 0.00159
NM_000532.5(PCCB):c.815G>A (p.Arg272Gln) rs150555106 0.00158
NM_025136.4(OPA3):c.*2008C>T rs144432336 0.00156
NM_025136.4(OPA3):c.*3360G>A rs545764728 0.00156
NM_172250.3(MMAA):c.*1988A>T rs141116337 0.00156
NM_005050.4(ABCD4):c.751C>T (p.Arg251Cys) rs141868117 0.00150
NM_025136.4(OPA3):c.*5565C>T rs145816878 0.00149
NM_000532.5(PCCB):c.872G>A (p.Cys291Tyr) rs77820367 0.00146
NM_000282.4(PCCA):c.828T>C (p.Gly276=) rs143838146 0.00143
NM_001352514.2(HLCS):c.*2921A>G rs555149143 0.00141
NM_001352514.2(HLCS):c.*2243C>T rs554230015 0.00140
NM_001609.4(ACADSB):c.*277A>T rs149609453 0.00139
NM_001195087.2(GGACT):c.*1774G>C rs41281124 0.00137
NM_022132.5(MCCC2):c.1322T>C (p.Ile441Thr) rs139852818 0.00137
NM_002225.5(IVD):c.*131G>A rs190115786 0.00135
NM_172250.3(MMAA):c.*3035A>C rs576544645 0.00135
NM_172250.3(MMAA):c.102C>T (p.Leu34=) rs146372922 0.00135
NM_052845.4(MMAB):c.-4G>C rs372195202 0.00134
NM_001081.4(CUBN):c.8894T>C (p.Phe2965Ser) rs117620008 0.00133
NM_001258392.3(CLPB):c.1792C>T (p.Arg598Cys) rs150343959 0.00133
NM_020166.5(MCCC1):c.639+13A>G rs140342772 0.00132
NM_000019.3(ACAT1):c.*553T>A rs183999318 0.00131
NM_025136.4(OPA3):c.*3884G>A rs187028696 0.00128
NM_001698.3(AUH):c.381A>G (p.Ile127Met) rs146227896 0.00125
NM_015506.3(MMACHC):c.332G>A (p.Arg111Gln) rs200300254 0.00123
NM_022132.5(MCCC2):c.450G>C (p.Val150=) rs151098534 0.00121
NM_001352514.2(HLCS):c.*3162T>C rs552016201 0.00118
NM_015702.3(MMADHC):c.578T>C (p.Val193Ala) rs147370143 0.00117
NM_025136.4(OPA3):c.*2490C>T rs11671670 0.00117
NM_000255.4(MMUT):c.393G>A (p.Gln131=) rs145682249 0.00116
NM_000532.5(PCCB):c.338G>A (p.Arg113Gln) rs138246328 0.00116
NM_001698.3(AUH):c.*29G>A rs200499826 0.00116
NM_001352514.2(HLCS):c.*2163A>G rs139776215 0.00115
NM_020166.5(MCCC1):c.*6A>C rs199827064 0.00112
NM_001081.4(CUBN):c.5967G>C (p.Val1989=) rs139153235 0.00111
NM_001609.4(ACADSB):c.*285T>C rs552366364 0.00111
NM_014384.3(ACAD8):c.1162G>A (p.Val388Met) rs139792723 0.00111
NM_052845.4(MMAB):c.*1988C>T rs183354300 0.00111
NM_001081.4(CUBN):c.7509G>A (p.Pro2503=) rs201001705 0.00105
NM_001081.4(CUBN):c.10002G>C (p.Gln3334His) rs147330179 0.00104
NM_052845.4(MMAB):c.10T>C (p.Cys4Arg) rs146668962 0.00104
NM_001352514.2(HLCS):c.*2444C>T rs546201018 0.00103
NM_025136.4(OPA3):c.*6688G>A rs181576269 0.00102
NM_022132.5(MCCC2):c.*819G>A rs565662004 0.00100
NM_002225.5(IVD):c.*1240T>A rs146819701 0.00099
NM_001609.4(ACADSB):c.*2529G>A rs182831006 0.00098
NM_001609.4(ACADSB):c.*3390C>A rs751677400 0.00098
NM_000282.4(PCCA):c.2172C>T (p.Leu724=) rs150352833 0.00096
NM_025136.4(OPA3):c.*2518A>G rs565012397 0.00096
NM_002225.5(IVD):c.164A>T (p.Lys55Met) rs145999491 0.00093
NM_022132.5(MCCC2):c.*552C>T rs544574975 0.00093
NM_001609.4(ACADSB):c.*2174A>G rs577027224 0.00092
NM_025136.4(OPA3):c.*4949G>A rs544881797 0.00092
NM_025136.4(OPA3):c.*5357G>A rs549141863 0.00092
NM_172250.3(MMAA):c.*342A>G rs886059093 0.00092
NM_001081.4(CUBN):c.10245C>T (p.Tyr3415=) rs147730705 0.00091
NM_001081.4(CUBN):c.9078C>T (p.Phe3026=) rs140524729 0.00091
NM_001352514.2(HLCS):c.331-7170T>A rs181989786 0.00091
NM_052845.4(MMAB):c.*2023C>T rs546885397 0.00091
NM_001081.4(CUBN):c.3495C>T (p.Cys1165=) rs143531829 0.00090
NM_001081.4(CUBN):c.3356T>C (p.Leu1119Ser) rs141164907 0.00089
NM_000019.3(ACAT1):c.-70T>A rs566741161 0.00088
NM_000282.4(PCCA):c.1676G>T (p.Trp559Leu) rs118169528 0.00088
NM_025136.4(OPA3):c.*1238G>A rs187216413 0.00088
NM_000282.4(PCCA):c.2040+11dup rs779884567 0.00087
NM_001352514.2(HLCS):c.1695C>T (p.Leu565=) rs138209330 0.00087
NM_001352514.2(HLCS):c.865G>A (p.Val289Ile) rs149291867 0.00087
NM_001081.4(CUBN):c.10575C>T (p.Pro3525=) rs145569358 0.00086
NM_001370658.1(BTD):c.1041C>T (p.Gly347=) rs142421934 0.00086
NM_025136.4(OPA3):c.*677C>T rs560749495 0.00086
NM_025136.4(OPA3):c.*6436_*6437insG rs886054506 0.00085
NM_052845.4(MMAB):c.394T>C (p.Cys132Arg) rs147457956 0.00085
NM_000282.4(PCCA):c.1065+5C>T rs201597816 0.00083
NM_022132.5(MCCC2):c.1433C>G (p.Ala478Gly) rs35068278 0.00082
NM_001081.4(CUBN):c.7210+9A>G rs117711403 0.00081
NM_015506.3(MMACHC):c.316G>A (p.Glu106Lys) rs201617713 0.00081
NM_020166.5(MCCC1):c.*45A>T rs186406584 0.00081
NM_000532.5(PCCB):c.882C>T (p.Pro294=) rs142730126 0.00080
NM_000255.4(MMUT):c.1762C>T (p.Arg588Cys) rs140727018 0.00079
NM_172250.3(MMAA):c.*192G>A rs188845060 0.00078
NM_000532.5(PCCB):c.911C>T (p.Thr304Ile) rs147538201 0.00076
NM_020166.5(MCCC1):c.1792C>A (p.Leu598Met) rs138480247 0.00075
NM_000532.5(PCCB):c.-34G>A rs372649775 0.00074
NM_001352514.2(HLCS):c.1331G>A (p.Arg444Gln) rs146030669 0.00074
NM_000532.5(PCCB):c.429+7G>A rs201986472 0.00073
NM_172250.3(MMAA):c.966A>G (p.Pro322=) rs150692463 0.00073
NM_015506.3(MMACHC):c.181C>T (p.Arg61Trp) rs200483477 0.00072
NM_000282.4(PCCA):c.1896A>G (p.Thr632=) rs61760965 0.00071
NM_001081.4(CUBN):c.10105A>G (p.Ser3369Gly) rs145023719 0.00070
NM_001081.4(CUBN):c.8399C>T (p.Thr2800Ile) rs141737312 0.00070
NM_025136.4(OPA3):c.*3350T>G rs181719786 0.00070
NM_020166.5(MCCC1):c.1337C>T (p.Ala446Val) rs144182725 0.00068
NM_001081.4(CUBN):c.*782G>A rs570478432 0.00067
NM_001243279.3(ACSF3):c.823-4G>C rs558325262 0.00067
NM_002225.5(IVD):c.*290dup rs529793013 0.00067
NM_015702.3(MMADHC):c.455C>G (p.Thr152Arg) rs146795035 0.00067
NM_000532.5(PCCB):c.*91C>A rs115533065 0.00066
NM_001698.3(AUH):c.598+10A>C rs186203318 0.00066
NM_020166.5(MCCC1):c.1492C>T (p.Leu498Phe) rs139926581 0.00066
NM_025136.4(OPA3):c.*698G>A rs561748985 0.00065
NM_001081.4(CUBN):c.4669C>T (p.Leu1557Phe) rs140970422 0.00064
NM_020166.5(MCCC1):c.984A>T (p.Lys328Asn) rs142513139 0.00064
NM_001243279.3(ACSF3):c.633C>T (p.Gly211=) rs140941507 0.00061
NM_001352514.2(HLCS):c.331-7076C>T rs541806392 0.00061
NM_020166.5(MCCC1):c.1731+6C>A rs369754994 0.00061
NM_001609.4(ACADSB):c.443C>T (p.Thr148Ile) rs58639322 0.00060
NM_001352514.2(HLCS):c.*2814C>T rs146199781 0.00059
NM_025136.4(OPA3):c.*742A>T rs979052921 0.00059
NM_001609.4(ACADSB):c.1228+8G>C rs202191462 0.00058
NM_020166.5(MCCC1):c.254A>C (p.Asn85Thr) rs148616219 0.00058
NM_001352514.2(HLCS):c.*2545C>A rs180866987 0.00056
NM_014384.3(ACAD8):c.*622C>T rs146349594 0.00056
NM_020166.5(MCCC1):c.1942G>A (p.Gly648Ser) rs149017703 0.00056
NM_025136.4(OPA3):c.*6674T>C rs534603782 0.00056
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_022132.5(MCCC2):c.*773C>T rs1013092369 0.00055
NM_000532.5(PCCB):c.1421A>G (p.Lys474Arg) rs145628302 0.00054
NM_000532.5(PCCB):c.763+10C>G rs180982841 0.00054
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_020166.5(MCCC1):c.-23C>T rs374636986 0.00051
NM_025136.4(OPA3):c.*1614C>T rs185624158 0.00051
NM_000255.4(MMUT):c.1115T>C (p.Ile372Thr) rs150968643 0.00050
NM_000532.5(PCCB):c.603T>C (p.Ala201=) rs141340198 0.00050
NM_018368.4(LMBRD1):c.1130T>C (p.Phe377Ser) rs73477459 0.00050
NM_052845.4(MMAB):c.*3265A>G rs776804847 0.00050
NM_018368.4(LMBRD1):c.-103A>G rs369575833 0.00049
NM_020166.5(MCCC1):c.130G>T (p.Ala44Ser) rs201216516 0.00049
NM_020166.5(MCCC1):c.131C>T (p.Ala44Val) rs200673204 0.00049
NM_020166.5(MCCC1):c.2009C>T (p.Ala670Val) rs138937107 0.00049
NM_025136.4(OPA3):c.*4846A>T rs1438623626 0.00048
NM_052845.4(MMAB):c.620C>T (p.Ala207Val) rs61739388 0.00048
NM_001081.4(CUBN):c.*734A>G rs751683958 0.00046
NM_001258392.3(CLPB):c.989C>T (p.Ala330Val) rs144942416 0.00045
NM_001352514.2(HLCS):c.215A>T (p.Lys72Met) rs191115811 0.00045
NM_022132.5(MCCC2):c.995G>A (p.Arg332Gln) rs144203670 0.00045
NM_032861.4(SERAC1):c.1404-3C>G rs367596327 0.00045
NM_000282.4(PCCA):c.1002C>T (p.Thr334=) rs150106872 0.00044
NM_001081.4(CUBN):c.3988C>T (p.His1330Tyr) rs149749419 0.00044
NM_001081.4(CUBN):c.7434C>T (p.Cys2478=) rs148976047 0.00044
NM_001698.3(AUH):c.*432C>T rs746233646 0.00044
NM_001352514.2(HLCS):c.1347G>C (p.Arg449Ser) rs142621386 0.00043
NM_001352514.2(HLCS):c.1390G>T (p.Val464Leu) rs144705277 0.00043
NM_001609.4(ACADSB):c.*972A>G rs529575388 0.00043
NM_022132.5(MCCC2):c.328G>A (p.Asp110Asn) rs145438308 0.00043
NM_001081.4(CUBN):c.3252A>G (p.Gln1084=) rs142560894 0.00042
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_001081.4(CUBN):c.671G>A (p.Arg224His) rs139891639 0.00041
NM_001081.4(CUBN):c.9061G>A (p.Glu3021Lys) rs41289299 0.00041
NM_022132.5(MCCC2):c.90G>T (p.Ser30=) rs559384926 0.00041
NM_025136.4(OPA3):c.-7C>G rs199590627 0.00041
NM_052845.4(MMAB):c.*961G>A rs541447661 0.00041
NM_000532.5(PCCB):c.914T>G (p.Ile305Ser) rs144907014 0.00040
NM_022132.5(MCCC2):c.*548C>T rs933207621 0.00040
NM_025136.4(OPA3):c.*1213C>T rs539298843 0.00040
NM_025136.4(OPA3):c.*7181G>A rs74253369 0.00040
NM_172250.3(MMAA):c.*4103G>A rs191381122 0.00040
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_172250.3(MMAA):c.*2562C>T rs529092235 0.00039
NM_000255.4(MMUT):c.-135G>T rs778890521 0.00038
NM_015506.3(MMACHC):c.67G>T (p.Val23Phe) rs201898615 0.00038
NM_025136.4(OPA3):c.*6902G>A rs528812143 0.00037
NM_000255.4(MMUT):c.1991C>T (p.Ala664Val) rs137958217 0.00036
NM_000282.4(PCCA):c.2055A>G (p.Gln685=) rs147568036 0.00036
NM_001352514.2(HLCS):c.1811G>A (p.Arg604His) rs74574054 0.00036
NM_001609.4(ACADSB):c.*1508C>T rs886046788 0.00036
NM_001609.4(ACADSB):c.*3409A>T rs568844573 0.00036
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_000282.4(PCCA):c.2037C>T (p.Asp679=) rs146870931 0.00035
NM_005050.4(ABCD4):c.406C>T (p.Arg136Trp) rs145141432 0.00035
NM_022132.5(MCCC2):c.*725C>T rs370508668 0.00035
NM_052845.4(MMAB):c.*2740G>A rs139886832 0.00035
NM_001081.4(CUBN):c.6091A>G (p.Thr2031Ala) rs150392211 0.00034
NM_001609.4(ACADSB):c.*1337A>G rs190353878 0.00034
NM_005050.4(ABCD4):c.752G>A (p.Arg251His) rs139315421 0.00034
NM_022132.5(MCCC2):c.1374-10C>T rs766032118 0.00034
NM_032861.4(SERAC1):c.91A>G (p.Arg31Gly) rs146896149 0.00034
NM_000255.4(MMUT):c.1417G>T (p.Ala473Ser) rs188766510 0.00033
NM_001081.4(CUBN):c.5429G>A (p.Arg1810Gln) rs149622438 0.00033
NM_001609.4(ACADSB):c.1187A>C (p.Lys396Thr) rs148640214 0.00033
NM_020166.5(MCCC1):c.1705A>T (p.Asn569Tyr) rs148332041 0.00033
NM_022132.5(MCCC2):c.*1297G>A rs547084096 0.00033
NM_022132.5(MCCC2):c.738+9A>G rs776559643 0.00033
NM_001081.4(CUBN):c.4376C>G (p.Ser1459Cys) rs138022214 0.00032
NM_001258392.3(CLPB):c.441G>C (p.Met147Ile) rs146895312 0.00032
NM_001352514.2(HLCS):c.1621-12T>C rs367728041 0.00032
NM_022132.5(MCCC2):c.*565C>A rs565365607 0.00032
NM_000019.3(ACAT1):c.*574G>C rs775813923 0.00031
NM_000532.5(PCCB):c.180G>A (p.Lys60=) rs140636870 0.00031
NM_001081.4(CUBN):c.3116A>G (p.Tyr1039Cys) rs150014503 0.00031
NM_001081.4(CUBN):c.7837A>C (p.Ile2613Leu) rs144626884 0.00031
NM_001081.4(CUBN):c.9335T>C (p.Phe3112Ser) rs150985118 0.00031
NM_001243279.3(ACSF3):c.43G>A (p.Ala15Thr) rs375374971 0.00031
NM_002225.5(IVD):c.*1005T>C rs560096869 0.00031
NM_002225.5(IVD):c.*287C>T rs565064447 0.00031
NM_052845.4(MMAB):c.*3043T>G rs771530065 0.00031
NM_052845.4(MMAB):c.*503G>A rs766339289 0.00031
NM_172250.3(MMAA):c.393A>T (p.Arg131Ser) rs371714495 0.00031
NM_000019.4(ACAT1):c.1217A>G (p.Glu406Gly) rs147872303 0.00030
NM_014384.3(ACAD8):c.466G>T (p.Ala156Ser) rs201273972 0.00030
NM_015506.3(MMACHC):c.19G>A (p.Glu7Lys) rs377405910 0.00030
NM_022132.5(MCCC2):c.*714G>A rs562662053 0.00030
NM_025136.4(OPA3):c.*1070C>T rs146989248 0.00030
NM_000255.4(MMUT):c.*466G>A rs538293537 0.00029
NM_000255.4(MMUT):c.878A>G (p.Gln293Arg) rs138374956 0.00029
NM_001081.4(CUBN):c.6263T>C (p.Phe2088Ser) rs74844886 0.00029
NM_001081.4(CUBN):c.814G>A (p.Gly272Arg) rs146035059 0.00029
NM_001258392.3(CLPB):c.646+6T>C rs374982363 0.00029
NM_001352514.2(HLCS):c.*2771C>T rs746169122 0.00029
NM_001352514.2(HLCS):c.*430T>C rs186680398 0.00029
NM_001609.4(ACADSB):c.*3332A>T rs763405920 0.00029
NM_001609.4(ACADSB):c.*3470T>C rs547577402 0.00029
NM_001698.3(AUH):c.936T>C (p.Tyr312=) rs139628387 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_022132.5(MCCC2):c.*368T>C rs769233664 0.00029
NM_172250.3(MMAA):c.*2139A>G rs772671304 0.00029
NM_000255.4(MMUT):c.566A>G (p.Asn189Ser) rs200908035 0.00028
NM_000282.4(PCCA):c.1850T>C (p.Leu617Pro) rs563417983 0.00028
NM_001081.4(CUBN):c.9664-9T>G rs145383974 0.00028
NM_025136.4(OPA3):c.*4372G>A rs573344031 0.00028
NM_001081.4(CUBN):c.3646C>G (p.Pro1216Ala) rs145881708 0.00027
NM_025136.4(OPA3):c.*5660A>G rs935989223 0.00027
NM_172250.3(MMAA):c.*1584A>G rs530538534 0.00027
NM_172250.3(MMAA):c.*177A>G rs572996882 0.00027
NM_172250.3(MMAA):c.1177G>A (p.Glu393Lys) rs144313458 0.00027
NM_000255.4(MMUT):c.*1044T>A rs779436906 0.00026
NM_000282.4(PCCA):c.660C>T (p.Ala220=) rs145826296 0.00026
NM_000532.5(PCCB):c.82C>G (p.Leu28Val) rs141137691 0.00026
NM_001081.4(CUBN):c.2932C>A (p.His978Asn) rs369981313 0.00026
NM_001081.4(CUBN):c.4167C>T (p.Tyr1389=) rs150510291 0.00026
NM_001081.4(CUBN):c.6560C>T (p.Ser2187Leu) rs143899993 0.00026
NM_001258392.3(CLPB):c.889C>T (p.Arg297Trp) rs148534573 0.00026
NM_001352514.2(HLCS):c.*1084C>T rs530869762 0.00026
NM_001352514.2(HLCS):c.1073C>T (p.Thr358Met) rs142524025 0.00026
NM_001352514.2(HLCS):c.2465A>G (p.His822Arg) rs148868421 0.00026
NM_001609.4(ACADSB):c.*1907C>T rs886046793 0.00026
NM_002225.5(IVD):c.400A>G (p.Ile134Val) rs151118565 0.00026
NM_025136.4(OPA3):c.*1091C>G rs557691359 0.00026
NM_052845.4(MMAB):c.*2051C>T rs775263273 0.00026
NM_145261.4(DNAJC19):c.331G>C (p.Glu111Gln) rs370042988 0.00026
NM_000255.4(MMUT):c.2197G>A (p.Val733Ile) rs1183369398 0.00025
NM_001352514.2(HLCS):c.*2541C>T rs184935954 0.00025
NM_001243279.3(ACSF3):c.1502-4G>A rs111414659 0.00024
NM_001698.3(AUH):c.791G>A (p.Gly264Glu) rs376821113 0.00024
NM_025136.4(OPA3):c.*2714C>T rs781539538 0.00024
NM_032861.4(SERAC1):c.1688C>G (p.Ser563Cys) rs146410859 0.00024
NM_000255.4(MMUT):c.*986G>A rs886061552 0.00023
NM_000282.4(PCCA):c.965C>T (p.Ala322Val) rs143527709 0.00022
NM_000532.5(PCCB):c.544-5G>C rs372351800 0.00022
NM_001081.4(CUBN):c.8071G>A (p.Gly2691Arg) rs1801237 0.00022
NM_001243279.3(ACSF3):c.728C>T (p.Pro243Leu) rs140986055 0.00022
NM_001370658.1(BTD):c.-148C>T rs774964227 0.00022
NM_001370658.1(BTD):c.1145A>G (p.Asn382Ser) rs201023772 0.00022
NM_001609.4(ACADSB):c.*3321C>T rs775939335 0.00022
NM_001698.3(AUH):c.464G>C (p.Gly155Ala) rs377491933 0.00022
NM_005050.4(ABCD4):c.1465G>A (p.Asp489Asn) rs139901585 0.00022
NM_025136.4(OPA3):c.*6698G>T rs768694312 0.00022
NM_000019.4(ACAT1):c.816G>T (p.Gln272His) rs139120939 0.00021
NM_000282.4(PCCA):c.-20G>A rs374941593 0.00021
NM_000282.4(PCCA):c.2101G>C (p.Ala701Pro) rs143096615 0.00021
NM_001081.4(CUBN):c.4702G>A (p.Asp1568Asn) rs533512333 0.00021
NM_001081.4(CUBN):c.9079G>A (p.Gly3027Arg) rs150202444 0.00021
NM_001195087.2(GGACT):c.*1930T>G rs770148620 0.00021
NM_002225.5(IVD):c.408G>C (p.Gln136His) rs569537063 0.00021
NM_020166.5(MCCC1):c.2171C>T (p.Ser724Leu) rs201806708 0.00021
NM_022132.5(MCCC2):c.1657A>G (p.Ile553Val) rs143156315 0.00021
NM_025136.4(OPA3):c.*3891C>T rs752997579 0.00021
NM_025136.4(OPA3):c.*5570C>T rs766783593 0.00021
NM_052845.4(MMAB):c.333C>T (p.Ala111=) rs769385276 0.00021
NM_000019.4(ACAT1):c.979A>G (p.Ile327Val) rs150038447 0.00020
NM_000255.4(MMUT):c.1808+15T>C rs369131814 0.00020
NM_001243279.3(ACSF3):c.1704G>A (p.Ala568=) rs539500659 0.00020
NM_025136.4(OPA3):c.*5739C>T rs375835737 0.00020
NM_052845.4(MMAB):c.*3142G>A rs747166756 0.00020
NM_172250.3(MMAA):c.*2471G>A rs886059106 0.00020
NM_000255.4(MMUT):c.284C>T (p.Pro95Leu) rs190834116 0.00019
NM_000255.4(MMUT):c.781A>G (p.Ile261Val) rs375054307 0.00019
NM_001081.4(CUBN):c.10293C>T (p.His3431=) rs1266678482 0.00019
NM_001081.4(CUBN):c.388-3C>T rs367626184 0.00019
NM_001081.4(CUBN):c.6020C>T (p.Thr2007Met) rs140202552 0.00019
NM_001081.4(CUBN):c.6479A>G (p.Asp2160Gly) rs144704318 0.00019
NM_001081.4(CUBN):c.8203G>T (p.Asp2735Tyr) rs149802222 0.00019
NM_001081.4(CUBN):c.8412T>C (p.Gly2804=) rs139990077 0.00019
NM_001081.4(CUBN):c.9597C>T (p.Leu3199=) rs200457480 0.00019
NM_001195087.2(GGACT):c.*1848C>T rs886049929 0.00019
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_001352514.2(HLCS):c.*1852G>T rs551457805 0.00019
NM_001609.4(ACADSB):c.*3597G>A rs755235760 0.00019
NM_002225.5(IVD):c.*805G>A rs183425220 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_025136.4(OPA3):c.*5013A>G rs780964248 0.00019
NM_025136.4(OPA3):c.*6072A>G rs576104602 0.00019
NM_052845.4(MMAB):c.*2914G>A rs759971406 0.00019
NM_172250.3(MMAA):c.701C>T (p.Ala234Val) rs367609164 0.00019
NM_000191.3(HMGCL):c.*338G>C rs988536831 0.00018
NM_000255.4(MMUT):c.1332+3A>C rs367641890 0.00018
NM_000255.4(MMUT):c.1763G>T (p.Arg588Leu) rs141829043 0.00018
NM_001081.4(CUBN):c.349-9T>C rs375431948 0.00018
NM_001081.4(CUBN):c.8084G>A (p.Gly2695Asp) rs142667203 0.00018
NM_001243279.3(ACSF3):c.129C>T (p.Ser43=) rs147915828 0.00018
NM_001243279.3(ACSF3):c.1613+3A>C rs373631805 0.00018
NM_001352514.2(HLCS):c.*3156A>G rs886738924 0.00018
NM_001352514.2(HLCS):c.2615G>A (p.Arg872Gln) rs147474255 0.00018
NM_002225.5(IVD):c.38C>T (p.Ala13Val) rs189587579 0.00018
NM_025136.4(OPA3):c.*3278C>T rs770317628 0.00018
NM_025136.4(OPA3):c.*5597C>T rs560019290 0.00018
NM_000255.4(MMUT):c.1333-8C>T rs199555550 0.00017
NM_000282.4(PCCA):c.328G>C (p.Val110Leu) rs150788587 0.00017
NM_000282.4(PCCA):c.382A>G (p.Met128Val) rs144201462 0.00017
NM_001081.4(CUBN):c.*940A>G rs560609264 0.00017
NM_001081.4(CUBN):c.3995A>G (p.Asn1332Ser) rs370803308 0.00017
NM_001081.4(CUBN):c.5796A>G (p.Glu1932=) rs376536525 0.00017
NM_001370658.1(BTD):c.1310T>C (p.Val437Ala) rs149690919 0.00017
NM_001609.4(ACADSB):c.*84G>A rs574895675 0.00017
NM_001609.4(ACADSB):c.795C>T (p.Phe265=) rs150619709 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_025136.4(OPA3):c.*5923G>A rs149788703 0.00017
NM_025136.4(OPA3):c.*6626G>A rs139757997 0.00017
NM_052845.4(MMAB):c.*2636A>G rs748949434 0.00017
NM_172250.3(MMAA):c.630A>G (p.Pro210=) rs374347679 0.00017
NM_001081.4(CUBN):c.1604A>G (p.Tyr535Cys) rs139848689 0.00016
NM_001081.4(CUBN):c.2778T>G (p.Ser926Arg) rs371127860 0.00016
NM_001081.4(CUBN):c.4740G>A (p.Thr1580=) rs200115233 0.00016
NM_001081.4(CUBN):c.6260C>G (p.Ser2087Cys) rs376641725 0.00016
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_001352514.2(HLCS):c.*2069T>C rs540511044 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_025136.3(OPA3):c.-96A>G rs566870092 0.00016
NM_052845.4(MMAB):c.*554G>A rs562420933 0.00016
NM_000255.4(MMUT):c.1865T>C (p.Met622Thr) rs201536536 0.00015
NM_001081.4(CUBN):c.10076C>T (p.Ser3359Leu) rs140566726 0.00015
NM_001081.4(CUBN):c.427A>C (p.Asn143His) rs151018922 0.00015
NM_001370658.1(BTD):c.-105C>T rs184480128 0.00015
NM_001698.3(AUH):c.678C>T (p.Arg226=) rs143768042 0.00015
NM_013247.5(HTRA2):c.77G>A (p.Gly26Glu) rs145946172 0.00015
NM_018368.4(LMBRD1):c.*166A>G rs960902863 0.00015
NM_018368.4(LMBRD1):c.384T>C (p.Asp128=) rs143642515 0.00015
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_025136.4(OPA3):c.*3442A>G rs138449967 0.00015
NM_000019.4(ACAT1):c.858G>A (p.Leu286=) rs143892373 0.00014
NM_000255.4(MMUT):c.189C>A (p.Thr63=) rs777167901 0.00014
NM_000282.3(PCCA):c.-60C>T rs778039561 0.00014
NM_000532.5(PCCB):c.654+3A>C rs199886085 0.00014
NM_001081.4(CUBN):c.*560C>T rs45565931 0.00014
NM_001081.4(CUBN):c.-35G>C rs376502722 0.00014
NM_001081.4(CUBN):c.1358C>A (p.Ser453Tyr) rs368630481 0.00014
NM_001081.4(CUBN):c.1450A>G (p.Ser484Gly) rs750735519 0.00014
NM_001081.4(CUBN):c.9035C>T (p.Pro3012Leu) rs143741363 0.00014
NM_001081.4(CUBN):c.9418G>A (p.Ala3140Thr) rs148491916 0.00014
NM_001081.4(CUBN):c.9922T>C (p.Trp3308Arg) rs752843169 0.00014
NM_001243279.3(ACSF3):c.1613+8T>G rs1358602745 0.00014
NM_001243279.3(ACSF3):c.80G>A (p.Arg27Lys) rs756279730 0.00014
NM_001352514.2(HLCS):c.*1273T>A rs565500474 0.00014
NM_001352514.2(HLCS):c.1843G>C (p.Val615Leu) rs376210604 0.00014
NM_001352514.2(HLCS):c.294A>C (p.Gln98His) rs751729789 0.00014
NM_001370658.1(BTD):c.1372G>A (p.Ala458Thr) rs181396238 0.00014
NM_002225.5(IVD):c.*1313C>G rs550652153 0.00014
NM_002225.5(IVD):c.*1839C>G rs186670312 0.00014
NM_002225.5(IVD):c.879-5G>A rs750569823 0.00014
NM_005050.4(ABCD4):c.719+6T>C rs755014125 0.00014
NM_014384.3(ACAD8):c.*705T>G rs534413850 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_022132.5(MCCC2):c.114C>G (p.Gly38=) rs750638270 0.00014
NM_025136.4(OPA3):c.*1018A>G rs534682712 0.00014
NM_025136.4(OPA3):c.*5045C>T rs573380409 0.00014
NM_025136.4(OPA3):c.*649C>T rs886054537 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.444G>A (p.Gly148=) rs117269384 0.00014
NM_052845.4(MMAB):c.503C>T (p.Thr168Met) rs200690789 0.00014
NM_052845.4(MMAB):c.678T>C (p.Tyr226=) rs111678627 0.00014
NM_172250.3(MMAA):c.*3222T>C rs886059112 0.00014
NM_000255.4(MMUT):c.*465C>T rs886061555 0.00013
NM_000255.4(MMUT):c.1777G>C (p.Glu593Gln) rs148285323 0.00013
NM_001081.4(CUBN):c.4639C>T (p.Arg1547Cys) rs375920680 0.00013
NM_001081.4(CUBN):c.8680C>G (p.Pro2894Ala) rs377159715 0.00013
NM_001243279.3(ACSF3):c.1398C>T (p.Tyr466=) rs200146632 0.00013
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_001609.4(ACADSB):c.*1754A>G rs886046791 0.00013
NM_001609.4(ACADSB):c.*3619T>C rs886046802 0.00013
NM_002225.5(IVD):c.*566A>T rs549510775 0.00013
NM_015506.3(MMACHC):c.584G>C (p.Gly195Ala) rs754862915 0.00013
NM_015702.3(MMADHC):c.-60G>A rs886054923 0.00013
NM_015702.3(MMADHC):c.10-9C>G rs376032730 0.00013
NM_018368.4(LMBRD1):c.*125A>G rs886061689 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_052845.4(MMAB):c.*2053C>T rs545623412 0.00013
NM_172250.3(MMAA):c.*942A>G rs886059096 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_001081.4(CUBN):c.1236T>C (p.Thr412=) rs201404467 0.00012
NM_001081.4(CUBN):c.2738G>C (p.Ser913Thr) rs201589187 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_001352514.2(HLCS):c.*1827C>A rs768653798 0.00012
NM_001352514.2(HLCS):c.*2555T>C rs79868396 0.00012
NM_001352514.2(HLCS):c.2151C>T (p.Asn717=) rs148709879 0.00012
NM_001352514.2(HLCS):c.2345A>G (p.Tyr782Cys) rs200453837 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_015506.3(MMACHC):c.364C>A (p.His122Asn) rs372918203 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.*1482C>T rs576738108 0.00012
NM_052845.4(MMAB):c.584+6A>G rs767719463 0.00012
NM_172250.3(MMAA):c.*1425C>T rs529476650 0.00012
NM_172250.3(MMAA):c.941G>A (p.Arg314His) rs148142853 0.00012
NM_000019.3(ACAT1):c.*397C>T rs568860814 0.00011
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_000255.4(MMUT):c.2026G>A (p.Ala676Thr) rs147715336 0.00011
NM_001081.4(CUBN):c.10729G>A (p.Ala3577Thr) rs139051724 0.00011
NM_001081.4(CUBN):c.1926C>T (p.Asp642=) rs201938886 0.00011
NM_001081.4(CUBN):c.6278G>C (p.Gly2093Ala) rs748823977 0.00011
NM_001081.4(CUBN):c.6661G>A (p.Val2221Ile) rs143291127 0.00011
NM_001081.4(CUBN):c.8021G>A (p.Arg2674His) rs184746130 0.00011
NM_001081.4(CUBN):c.9267C>T (p.Thr3089=) rs200124646 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_001352514.2(HLCS):c.2416G>A (p.Val806Ile) rs368124997 0.00011
NM_001352514.2(HLCS):c.951C>T (p.Ser317=) rs185480832 0.00011
NM_001370658.1(BTD):c.1429C>T (p.Pro477Ser) rs138818907 0.00011
NM_001609.4(ACADSB):c.960A>T (p.Ile320=) rs147531541 0.00011
NM_001698.3(AUH):c.926A>C (p.Glu309Ala) rs749713024 0.00011
NM_002225.5(IVD):c.*2001G>A rs185013442 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.*941A>G rs537387461 0.00011
NM_022132.5(MCCC2):c.1282G>A (p.Ala428Thr) rs371374378 0.00011
NM_022132.5(MCCC2):c.1545G>C (p.Glu515Asp) rs140220101 0.00011
NM_022132.5(MCCC2):c.58C>T (p.Pro20Ser) rs371336335 0.00011
NM_052845.4(MMAB):c.*1689C>T rs886093880 0.00011
NM_052845.4(MMAB):c.*3074C>T rs186602321 0.00011
NM_000019.4(ACAT1):c.772C>T (p.Arg258Cys) rs753816946 0.00010
NM_000255.4(MMUT):c.2022C>T (p.Leu674=) rs772652266 0.00010
NM_000282.4(PCCA):c.1193G>C (p.Cys398Ser) rs149293297 0.00010
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_000532.5(PCCB):c.1154A>G (p.Asn385Ser) rs151078515 0.00010
NM_001017989.3(OPA3):c.415C>T (p.Gln139Ter) rs762180740 0.00010
NM_001081.4(CUBN):c.*786T>C rs886046853 0.00010
NM_001081.4(CUBN):c.10641G>A (p.Arg3547=) rs145909413 0.00010
NM_001081.4(CUBN):c.5323C>T (p.Arg1775Trp) rs1276708 0.00010
NM_001243279.3(ACSF3):c.1127-5T>C rs200245960 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_001352514.2(HLCS):c.*1594A>G rs776064678 0.00010
NM_001370658.1(BTD):c.382C>T (p.Arg128Cys) rs137877018 0.00010
NM_001609.4(ACADSB):c.*2085C>T rs766980366 0.00010
NM_001609.4(ACADSB):c.725C>T (p.Pro242Leu) rs143736049 0.00010
NM_001698.3(AUH):c.*218_*219del rs1057515675 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_005334.3(HCFC1):c.3356C>T (p.Thr1119Ile) rs782727601 0.00010
NM_014384.3(ACAD8):c.567+12C>T rs375812492 0.00010
NM_015506.3(MMACHC):c.641G>A (p.Arg214His) rs202189863 0.00010
NM_018368.4(LMBRD1):c.*384A>C rs536469891 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_022132.5(MCCC2):c.*260T>A rs886060739 0.00010
NM_022132.5(MCCC2):c.*856C>T rs886060744 0.00010
NM_025136.4(OPA3):c.*5258A>G rs886054512 0.00010
NM_052845.4(MMAB):c.*2503G>A rs886048916 0.00010
NM_052845.4(MMAB):c.*509C>T rs886048923 0.00010
NM_000019.3(ACAT1):c.*344T>C rs776705661 0.00009
NM_000255.4(MMUT):c.*1184T>C rs745494100 0.00009
NM_000255.4(MMUT):c.*1252T>C rs781039564 0.00009
NM_000255.4(MMUT):c.2087A>C (p.Asp696Ala) rs759407117 0.00009
NM_000282.4(PCCA):c.36C>T (p.Val12=) rs375516917 0.00009
NM_000532.5(PCCB):c.1215C>T (p.Tyr405=) rs191375566 0.00009
NM_001081.4(CUBN):c.10351G>A (p.Asp3451Asn) rs145661638 0.00009
NM_001081.4(CUBN):c.10736C>T (p.Ser3579Phe) rs754645310 0.00009
NM_001081.4(CUBN):c.1111+5T>C rs199662739 0.00009
NM_001081.4(CUBN):c.2483G>A (p.Arg828His) rs199527884 0.00009
NM_001081.4(CUBN):c.536G>T (p.Gly179Val) rs370373276 0.00009
NM_001081.4(CUBN):c.5862G>A (p.Lys1954=) rs181991723 0.00009
NM_001081.4(CUBN):c.614C>T (p.Thr205Met) rs374652141 0.00009
NM_001081.4(CUBN):c.8825A>G (p.Asn2942Ser) rs766855509 0.00009
NM_001081.4(CUBN):c.9139A>G (p.Ile3047Val) rs376118603 0.00009
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_001243279.3(ACSF3):c.391G>A (p.Ala131Thr) rs144411003 0.00009
NM_001243279.3(ACSF3):c.672C>T (p.Thr224=) rs150374081 0.00009
NM_001258392.3(CLPB):c.1803G>A (p.Val601=) rs766600801 0.00009
NM_001352514.2(HLCS):c.1974dup (p.Val659fs) rs767533946 0.00009
NM_001352514.2(HLCS):c.2432A>G (p.Tyr811Cys) rs776535574 0.00009
NM_001370658.1(BTD):c.1395C>G (p.His465Gln) rs201604102 0.00009
NM_001609.4(ACADSB):c.*323G>A rs886046785 0.00009
NM_001698.3(AUH):c.*237G>A rs933932318 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_002225.5(IVD):c.*123G>A rs536728525 0.00009
NM_002225.5(IVD):c.*2205C>T rs185128282 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.*82G>C rs964955100 0.00009
NM_014384.3(ACAD8):c.110-9T>C rs371550147 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_015702.3(MMADHC):c.-16A>G rs144111552 0.00009
NM_018368.4(LMBRD1):c.*26A>G rs758279877 0.00009
NM_020166.5(MCCC1):c.294C>T (p.Ile98=) rs368288499 0.00009
NM_022132.5(MCCC2):c.*1272A>G rs772502944 0.00009
NM_022132.5(MCCC2):c.650C>T (p.Thr217Ile) rs144631139 0.00009
NM_025136.4(OPA3):c.*1863T>G rs769185702 0.00009
NM_025136.4(OPA3):c.*4773A>G rs1409082190 0.00009
NM_025136.4(OPA3):c.*5496C>T rs886054511 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_052845.4(MMAB):c.*301C>T rs1053960970 0.00009
NM_052845.4(MMAB):c.387G>A (p.Ala129=) rs549807022 0.00009
NM_052845.4(MMAB):c.561C>T (p.Ala187=) rs370773720 0.00009
NM_172250.3(MMAA):c.*2808G>A rs543019315 0.00009
NM_172250.3(MMAA):c.*4539T>G rs558703264 0.00009
NM_172250.3(MMAA):c.440-6C>T rs374784209 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_000255.4(MMUT):c.*200A>T rs886061556 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_000282.4(PCCA):c.490A>G (p.Ile164Val) rs539693612 0.00008
NM_000532.5(PCCB):c.561C>T (p.Ser187=) rs145057852 0.00008
NM_001081.4(CUBN):c.10576G>A (p.Gly3526Ser) rs200330356 0.00008
NM_001081.4(CUBN):c.10838G>A (p.Arg3613His) rs148626202 0.00008
NM_001081.4(CUBN):c.1234A>G (p.Thr412Ala) rs748933632 0.00008
NM_001081.4(CUBN):c.2446+11A>G rs372125740 0.00008
NM_001081.4(CUBN):c.4216G>A (p.Gly1406Arg) rs771763775 0.00008
NM_001081.4(CUBN):c.5073C>G (p.Pro1691=) rs200977290 0.00008
NM_001081.4(CUBN):c.6613G>A (p.Gly2205Arg) rs140883483 0.00008
NM_001081.4(CUBN):c.7455G>A (p.Pro2485=) rs144942741 0.00008
NM_001352514.2(HLCS):c.*1085G>A rs531457233 0.00008
NM_001352514.2(HLCS):c.601G>C (p.Glu201Gln) rs373822815 0.00008
NM_001370658.1(BTD):c.986A>C (p.Asn329Thr) rs200327983 0.00008
NM_001609.4(ACADSB):c.*2060G>A rs886046795 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_005334.3(HCFC1):c.3495G>C (p.Gln1165His) rs373327413 0.00008
NM_014362.4(HIBCH):c.238G>C (p.Glu80Gln) rs200185893 0.00008
NM_014384.3(ACAD8):c.*266T>A rs762508631 0.00008
NM_014384.3(ACAD8):c.841+9C>T rs777635296 0.00008
NM_018368.4(LMBRD1):c.802G>A (p.Ala268Thr) rs143758103 0.00008
NM_025136.4(OPA3):c.*3644C>T rs914226398 0.00008
NM_025136.4(OPA3):c.*4521G>A rs886054521 0.00008
NM_025136.4(OPA3):c.*5873C>T rs886054509 0.00008
NM_032861.4(SERAC1):c.418A>G (p.Ser140Gly) rs370340688 0.00008
NM_052845.4(MMAB):c.584+15G>A rs750655720 0.00008
NM_052845.4(MMAB):c.644+7G>A rs147637814 0.00008
NM_052845.4(MMAB):c.91C>T (p.Arg31Cys) rs142447736 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_000019.4(ACAT1):c.239-8T>A rs202030208 0.00007
NM_000116.5(TAFAZZIN):c.*618A>G rs781924638 0.00007
NM_000191.3(HMGCL):c.244G>A (p.Val82Ile) rs538620811 0.00007
NM_000255.4(MMUT):c.1963C>T (p.Arg655Cys) rs541001298 0.00007
NM_000532.5(PCCB):c.8C>T (p.Ala3Val) rs373685372 0.00007
NM_001081.4(CUBN):c.10028C>T (p.Pro3343Leu) rs150358307 0.00007
NM_001081.4(CUBN):c.1715A>T (p.His572Leu) rs368231433 0.00007
NM_001081.4(CUBN):c.4129C>T (p.Arg1377Cys) rs763563422 0.00007
NM_001081.4(CUBN):c.5397T>C (p.Arg1799=) rs147772422 0.00007
NM_001081.4(CUBN):c.5794G>C (p.Glu1932Gln) rs749462295 0.00007
NM_001081.4(CUBN):c.7797C>T (p.Cys2599=) rs138758085 0.00007
NM_001081.4(CUBN):c.7990C>G (p.Gln2664Glu) rs575118918 0.00007
NM_001081.4(CUBN):c.8301A>G (p.Ser2767=) rs377258631 0.00007
NM_001081.4(CUBN):c.8891C>G (p.Ser2964Cys) rs148348845 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.*2416C>T rs566088233 0.00007
NM_001352514.2(HLCS):c.2500G>A (p.Val834Ile) rs145648338 0.00007
NM_001370658.1(BTD):c.-65G>T rs199516128 0.00007
NM_001609.4(ACADSB):c.*1865C>T rs1389294187 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_020166.5(MCCC1):c.1303G>A (p.Ala435Thr) rs142507365 0.00007
NM_025136.4(OPA3):c.*6361G>A rs1020767023 0.00007
NM_025136.4(OPA3):c.*821A>T rs886054536 0.00007
NM_052845.4(MMAB):c.14G>A (p.Gly5Asp) rs769048646 0.00007
NM_052845.4(MMAB):c.401C>T (p.Ser134Leu) rs138708209 0.00007
NM_052845.4(MMAB):c.521C>T (p.Ser174Leu) rs140881518 0.00007
NM_052845.4(MMAB):c.79C>T (p.Leu27Phe) rs150895111 0.00007
NM_145261.4(DNAJC19):c.*488G>C rs576646391 0.00007
NM_172250.3(MMAA):c.977G>A (p.Arg326His) rs201547892 0.00007
NM_000019.3(ACAT1):c.*384A>C rs916588276 0.00006
NM_000019.4(ACAT1):c.-5C>T rs747790910 0.00006
NM_000019.4(ACAT1):c.1221C>T (p.Tyr407=) rs367713788 0.00006
NM_000019.4(ACAT1):c.85G>T (p.Val29Leu) rs764142914 0.00006
NM_000019.4(ACAT1):c.891G>A (p.Thr297=) rs372169445 0.00006
NM_000116.5(TAFAZZIN):c.751C>T (p.Arg251Trp) rs372689133 0.00006
NM_000191.3(HMGCL):c.*414G>A rs886046310 0.00006
NM_000191.3(HMGCL):c.151G>A (p.Val51Ile) rs142942001 0.00006
NM_000191.3(HMGCL):c.594C>T (p.Tyr198=) rs139799938 0.00006
NM_000191.3(HMGCL):c.853del (p.Met284_Leu285insTer) rs779339230 0.00006
NM_000255.4(MMUT):c.*281G>A rs144168425 0.00006
NM_000255.4(MMUT):c.277C>T (p.Arg93Cys) rs746274670 0.00006
NM_000255.4(MMUT):c.912G>A (p.Arg304=) rs201311681 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_001081.4(CUBN):c.*298G>A rs529415832 0.00006
NM_001081.4(CUBN):c.*416G>A rs886046856 0.00006
NM_001081.4(CUBN):c.165G>A (p.Thr55=) rs370127775 0.00006
NM_001081.4(CUBN):c.2120G>A (p.Arg707His) rs763524933 0.00006
NM_001081.4(CUBN):c.2610A>G (p.Glu870=) rs143471343 0.00006
NM_001081.4(CUBN):c.348+10A>G rs373954000 0.00006
NM_001081.4(CUBN):c.6187C>T (p.Arg2063Trp) rs781180388 0.00006
NM_001081.4(CUBN):c.7106G>T (p.Gly2369Val) rs200593316 0.00006
NM_001081.4(CUBN):c.735C>T (p.Cys245=) rs766772944 0.00006
NM_001081.4(CUBN):c.8056T>C (p.Phe2686Leu) rs755819982 0.00006
NM_001081.4(CUBN):c.879A>G (p.Pro293=) rs142466038 0.00006
NM_001081.4(CUBN):c.9298G>A (p.Asp3100Asn) rs202189846 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.*168G>T rs118099059 0.00006
NM_001352514.2(HLCS):c.*3253C>T rs529403596 0.00006
NM_001352514.2(HLCS):c.1278G>A (p.Glu426=) rs548505968 0.00006
NM_001352514.2(HLCS):c.2352C>T (p.Ile784=) rs150263699 0.00006
NM_001352514.2(HLCS):c.988C>T (p.Arg330Trp) rs150431185 0.00006
NM_001370658.1(BTD):c.1225G>A (p.Glu409Lys) rs770633850 0.00006
NM_001609.4(ACADSB):c.*2548G>T rs545467732 0.00006
NM_001609.4(ACADSB):c.*2581A>C rs779662230 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_002225.5(IVD):c.784+13G>A rs369694967 0.00006
NM_014384.3(ACAD8):c.*238G>C rs886048026 0.00006
NM_014384.3(ACAD8):c.1154A>G (p.Gln385Arg) rs367996531 0.00006
NM_014384.3(ACAD8):c.207G>A (p.Gln69=) rs199868020 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.*241A>G rs528409808 0.00006
NM_015702.3(MMADHC):c.254A>G (p.Asn85Ser) rs767542742 0.00006
NM_015702.3(MMADHC):c.515A>C (p.Lys172Thr) rs147318949 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_020166.5(MCCC1):c.1773C>T (p.Ser591=) rs200651846 0.00006
NM_022132.5(MCCC2):c.*1354C>T rs538509005 0.00006
NM_022132.5(MCCC2):c.*699T>C rs886060741 0.00006
NM_022132.5(MCCC2):c.417C>T (p.Thr139=) rs367635502 0.00006
NM_025136.4(OPA3):c.*2545G>A rs886054528 0.00006
NM_025136.4(OPA3):c.*4233G>A rs576081836 0.00006
NM_025136.4(OPA3):c.*4585C>T rs886054520 0.00006
NM_025136.4(OPA3):c.*4618G>A rs1165606483 0.00006
NM_025136.4(OPA3):c.*5277G>A rs535986790 0.00006
NM_025136.4(OPA3):c.*6278G>A rs886054507 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.*1683G>A rs572832766 0.00006
NM_052845.4(MMAB):c.*335G>A rs745373257 0.00006
NM_052845.4(MMAB):c.*691A>C rs886048922 0.00006
NM_052845.4(MMAB):c.150G>A (p.Ser50=) rs754357121 0.00006
NM_052845.4(MMAB):c.158C>T (p.Pro53Leu) rs764683053 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.*2645C>T rs568954220 0.00006
NM_172250.3(MMAA):c.*4228T>C rs533826043 0.00006
NM_172250.3(MMAA):c.-69G>T rs886059086 0.00006
NM_172250.3(MMAA):c.1193T>C (p.Ile398Thr) rs777459994 0.00006
NM_172250.3(MMAA):c.850G>C (p.Asp284His) rs758654806 0.00006
NM_172250.3(MMAA):c.92G>A (p.Ser31Asn) rs142126209 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.454G>A (p.Ala152Thr) rs146306707 0.00005
NM_000191.3(HMGCL):c.470C>T (p.Ala157Val) rs147752765 0.00005
NM_000191.3(HMGCL):c.720A>G (p.Gln240=) rs911190800 0.00005
NM_000191.3(HMGCL):c.76A>G (p.Met26Val) rs756958205 0.00005
NM_000255.4(MMUT):c.-47G>A rs909215931 0.00005
NM_000255.4(MMUT):c.1630G>A (p.Gly544Arg) rs78150750 0.00005
NM_000282.4(PCCA):c.1154A>G (p.Lys385Arg) rs192543675 0.00005
NM_000282.4(PCCA):c.945G>A (p.Ala315=) rs373115130 0.00005
NM_000532.5(PCCB):c.1127G>A (p.Arg376His) rs142982097 0.00005
NM_000532.5(PCCB):c.1352C>T (p.Thr451Ile) rs145135400 0.00005
NM_001001563.5(TIMM50):c.1033C>T (p.Arg345Cys) rs137968278 0.00005
NM_001081.4(CUBN):c.*195T>C rs886046859 0.00005
NM_001081.4(CUBN):c.*470T>C rs886046855 0.00005
NM_001081.4(CUBN):c.10102A>G (p.Met3368Val) rs767333853 0.00005
NM_001081.4(CUBN):c.10235C>T (p.Pro3412Leu) rs556303931 0.00005
NM_001081.4(CUBN):c.113A>G (p.Asn38Ser) rs776471095 0.00005
NM_001081.4(CUBN):c.1230C>T (p.Ile410=) rs144627803 0.00005
NM_001081.4(CUBN):c.2476G>A (p.Val826Ile) rs141874896 0.00005
NM_001081.4(CUBN):c.4092C>G (p.Ser1364=) rs199763912 0.00005
NM_001081.4(CUBN):c.4420C>T (p.Pro1474Ser) rs201251467 0.00005
NM_001081.4(CUBN):c.4797G>T (p.Leu1599Phe) rs201294291 0.00005
NM_001081.4(CUBN):c.4964C>G (p.Pro1655Arg) rs532968940 0.00005
NM_001081.4(CUBN):c.5189C>T (p.Thr1730Met) rs201958183 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.*1756C>T rs748180401 0.00005
NM_001352514.2(HLCS):c.*1953A>G rs767162730 0.00005
NM_001352514.2(HLCS):c.*2945C>T rs71332549 0.00005
NM_001352514.2(HLCS):c.*490C>T rs376741921 0.00005
NM_001352514.2(HLCS):c.1327G>A (p.Val443Ile) rs200629955 0.00005
NM_001352514.2(HLCS):c.1857C>A (p.Ala619=) rs759178651 0.00005
NM_001352514.2(HLCS):c.1910C>T (p.Pro637Leu) rs536067980 0.00005
NM_001370658.1(BTD):c.383G>A (p.Arg128His) rs367902696 0.00005
NM_001370658.1(BTD):c.48C>T (p.Tyr16=) rs201823743 0.00005
NM_001370658.1(BTD):c.565C>T (p.Arg189Cys) rs369102875 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.*1172C>T rs532691940 0.00005
NM_002225.5(IVD):c.*1884G>A rs1325854341 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.1941C>T (p.Gly647=) rs199528231 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.*1649C>T rs539578408 0.00005
NM_022132.5(MCCC2):c.162T>C (p.Asn54=) rs774812912 0.00005
NM_022132.5(MCCC2):c.641G>C (p.Gly214Ala) rs277995 0.00005
NM_022132.5(MCCC2):c.775G>T (p.Asp259Tyr) rs191457686 0.00005
NM_025136.4(OPA3):c.*1462C>T rs978328141 0.00005
NM_025136.4(OPA3):c.*4586G>A rs886054519 0.00005
NM_025136.4(OPA3):c.*5730C>T rs1308663626 0.00005
NM_025136.4(OPA3):c.*7018G>C rs557041940 0.00005
NM_052845.4(MMAB):c.*424G>A rs551461624 0.00005
NM_052845.4(MMAB):c.346A>G (p.Lys116Glu) rs551289581 0.00005
NM_052845.4(MMAB):c.44G>A (p.Arg15His) rs367711757 0.00005
NM_052845.4(MMAB):c.562G>A (p.Val188Met) rs768176676 0.00005
NM_052845.4(MMAB):c.665C>T (p.Thr222Met) rs142070439 0.00005
NM_172250.3(MMAA):c.*3087A>G rs983988317 0.00005
NM_172250.3(MMAA):c.1003A>T (p.Ile335Phe) rs199749473 0.00005
NM_172250.3(MMAA):c.1121G>A (p.Ser374Asn) rs778178659 0.00005
NM_172250.3(MMAA):c.175G>C (p.Asp59His) rs371779800 0.00005
NM_172250.3(MMAA):c.912G>A (p.Ala304=) rs371769807 0.00005
NM_172250.3(MMAA):c.989G>A (p.Arg330Gln) rs140031911 0.00005
NM_000019.3(ACAT1):c.*464A>G rs886047602 0.00004
NM_000019.4(ACAT1):c.1279C>A (p.Leu427Met) rs201500937 0.00004
NM_000019.4(ACAT1):c.637G>A (p.Ala213Thr) rs772087249 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_000255.4(MMUT):c.*445A>G rs1025441665 0.00004
NM_000255.4(MMUT):c.1607C>T (p.Ala536Val) rs369902876 0.00004
NM_000255.4(MMUT):c.2084C>T (p.Pro695Leu) rs561197473 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.782A>G (p.Glu261Gly) rs1169861687 0.00004
NM_000282.4(PCCA):c.819+9A>G rs372739944 0.00004
NM_000282.4(PCCA):c.825A>G (p.Leu275=) rs376560248 0.00004
NM_000282.4(PCCA):c.943G>A (p.Ala315Thr) rs759223615 0.00004
NM_000532.5(PCCB):c.1229G>A (p.Arg410Gln) rs778742647 0.00004
NM_000532.5(PCCB):c.1355A>G (p.Asn452Ser) rs746240889 0.00004
NM_000532.5(PCCB):c.1514T>C (p.Ile505Thr) rs1353542774 0.00004
NM_000532.5(PCCB):c.1541G>A (p.Arg514Gln) rs577625696 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_001017989.3(OPA3):c.421C>T (p.Gln141Ter) rs374175877 0.00004
NM_001081.3(CUBN):c.-50G>A rs370711661 0.00004
NM_001081.4(CUBN):c.*597A>C rs569828144 0.00004
NM_001081.4(CUBN):c.10327G>A (p.Glu3443Lys) rs776263089 0.00004
NM_001081.4(CUBN):c.10363-3A>G rs765943248 0.00004
NM_001081.4(CUBN):c.1719A>T (p.Leu573Phe) rs148313915 0.00004
NM_001081.4(CUBN):c.2013A>G (p.Pro671=) rs137892259 0.00004
NM_001081.4(CUBN):c.2203G>A (p.Val735Ile) rs370770104 0.00004
NM_001081.4(CUBN):c.3692G>A (p.Ser1231Asn) rs150277370 0.00004
NM_001081.4(CUBN):c.4423A>G (p.Met1475Val) rs1290241240 0.00004
NM_001081.4(CUBN):c.4621C>T (p.Arg1541Trp) rs146824506 0.00004
NM_001081.4(CUBN):c.5357A>C (p.Glu1786Ala) rs748558881 0.00004
NM_001081.4(CUBN):c.535G>A (p.Gly179Arg) rs772400701 0.00004
NM_001081.4(CUBN):c.5467A>G (p.Ile1823Val) rs946315516 0.00004
NM_001081.4(CUBN):c.5957A>T (p.Asp1986Val) rs772570411 0.00004
NM_001081.4(CUBN):c.6849G>A (p.Arg2283=) rs373804380 0.00004
NM_001081.4(CUBN):c.7001-4G>A rs886046871 0.00004
NM_001081.4(CUBN):c.7976T>C (p.Val2659Ala) rs1007248288 0.00004
NM_001081.4(CUBN):c.8599-8C>T rs199774490 0.00004
NM_001081.4(CUBN):c.8617G>A (p.Glu2873Lys) rs142519035 0.00004
NM_001081.4(CUBN):c.8701G>A (p.Val2901Ile) rs201093611 0.00004
NM_001081.4(CUBN):c.9036G>A (p.Pro3012=) rs576867280 0.00004
NM_001081.4(CUBN):c.9442C>T (p.Arg3148Trp) rs749089689 0.00004
NM_001081.4(CUBN):c.9525G>A (p.Ser3175=) rs199499934 0.00004
NM_001081.4(CUBN):c.9714T>C (p.Gly3238=) rs141513734 0.00004
NM_001195087.2(GGACT):c.*1741A>C rs1046827974 0.00004
NM_001243279.3(ACSF3):c.1084A>T (p.Met362Leu) rs560149696 0.00004
NM_001243279.3(ACSF3):c.116G>A (p.Arg39His) rs144711526 0.00004
NM_001243279.3(ACSF3):c.1242G>A (p.Val414=) rs766713747 0.00004
NM_001243279.3(ACSF3):c.1375G>A (p.Val459Met) rs200029061 0.00004
NM_001243279.3(ACSF3):c.1470G>C (p.Glu490Asp) rs147538370 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.1703C>T (p.Ala568Val) rs142633119 0.00004
NM_001243279.3(ACSF3):c.1721dup (p.His574fs) rs768886326 0.00004
NM_001243279.3(ACSF3):c.506C>T (p.Pro169Leu) rs377732201 0.00004
NM_001243279.3(ACSF3):c.666+9C>T rs767663198 0.00004
NM_001243279.3(ACSF3):c.726C>T (p.Leu242=) rs377354800 0.00004
NM_001243279.3(ACSF3):c.936C>T (p.His312=) rs202119269 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.*1089G>A rs146991267 0.00004
NM_001352514.2(HLCS):c.*1094T>C rs780432651 0.00004
NM_001352514.2(HLCS):c.*1097G>A rs886057070 0.00004
NM_001352514.2(HLCS):c.2341G>A (p.Asp781Asn) rs149399432 0.00004
NM_001352514.2(HLCS):c.494-9A>G rs376397597 0.00004
NM_001352514.2(HLCS):c.574C>G (p.Pro192Ala) rs200950813 0.00004
NM_001352514.2(HLCS):c.910C>T (p.Leu304Phe) rs763508196 0.00004
NM_001352514.2(HLCS):c.918A>G (p.Gly306=) rs767988985 0.00004
NM_001370658.1(BTD):c.-38G>A rs138473616 0.00004
NM_001370658.1(BTD):c.1301A>G (p.Tyr434Cys) rs397514345 0.00004
NM_001370658.1(BTD):c.1536G>A (p.Thr512=) rs774052068 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_001609.3(ACADSB):c.-39G>A rs886046776 0.00004
NM_001609.4(ACADSB):c.*1827G>A rs559677030 0.00004
NM_001609.4(ACADSB):c.*498G>A rs891156805 0.00004
NM_001609.4(ACADSB):c.-22A>G rs563472823 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.*338G>A rs879231133 0.00004
NM_002225.5(IVD):c.*611T>G rs886051130 0.00004
NM_002225.5(IVD):c.1232G>A (p.Arg411Gln) rs143348838 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.1346C>T (p.Thr449Met) rs969369250 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.3730C>T (p.Arg1244Cys) rs782155408 0.00004
NM_005334.3(HCFC1):c.4574C>T (p.Thr1525Ile) rs782370174 0.00004
NM_014384.3(ACAD8):c.*608G>A rs143912522 0.00004
NM_014384.3(ACAD8):c.*696A>G rs886048029 0.00004
NM_014384.3(ACAD8):c.1004A>G (p.Asn335Ser) rs768954546 0.00004
NM_014384.3(ACAD8):c.110-13A>G rs369626260 0.00004
NM_014384.3(ACAD8):c.1147G>A (p.Ala383Thr) rs200234092 0.00004
NM_014384.3(ACAD8):c.409G>A (p.Gly137Arg) rs371449613 0.00004
NM_014384.3(ACAD8):c.965T>C (p.Met322Thr) rs577976129 0.00004
NM_015506.3(MMACHC):c.296T>C (p.Ile99Thr) rs370229341 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_015702.3(MMADHC):c.696+13C>A rs199528296 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.1501T>C (p.Phe501Leu) rs776133587 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.1282G>A (p.Val428Met) rs150943644 0.00004
NM_020166.5(MCCC1):c.1331G>A (p.Arg444His) rs768785753 0.00004
NM_020166.5(MCCC1):c.1701G>A (p.Thr567=) rs377320336 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.*378T>A rs535221710 0.00004
NM_022132.5(MCCC2):c.1120G>A (p.Gly374Arg) rs753784414 0.00004
NM_022132.5(MCCC2):c.1309A>G (p.Ile437Val) rs119103224 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.1674C>T (p.Phe558=) rs768354167 0.00004
NM_022132.5(MCCC2):c.1690T>C (p.Ter564Gln) rs751970792 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.*3845C>T rs886054525 0.00004
NM_025136.4(OPA3):c.*6125G>A rs780617440 0.00004
NM_025136.4(OPA3):c.*6570G>C rs773109015 0.00004
NM_025136.4(OPA3):c.*761C>T rs1020788721 0.00004
NM_025136.4(OPA3):c.*922G>T rs886054535 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.*2679G>C rs546327751 0.00004
NM_052845.4(MMAB):c.*588C>T rs1214904926 0.00004
NM_052845.4(MMAB):c.*815T>C rs776724872 0.00004
NM_052845.4(MMAB):c.326C>T (p.Thr109Ile) rs762404377 0.00004
NM_052845.4(MMAB):c.349-9G>A rs372577644 0.00004
NM_052845.4(MMAB):c.35T>C (p.Leu12Pro) rs533819939 0.00004
NM_052845.4(MMAB):c.402G>A (p.Ser134=) rs756766385 0.00004
NM_052845.4(MMAB):c.542C>T (p.Ala181Val) rs764164596 0.00004
NM_052845.4(MMAB):c.656A>G (p.Tyr219Cys) rs765547005 0.00004
NM_145261.4(DNAJC19):c.280+1G>A rs774006022 0.00004
NM_172250.3(MMAA):c.*1227A>T rs375194713 0.00004
NM_172250.3(MMAA):c.*1284G>A rs564976817 0.00004
NM_172250.3(MMAA):c.*2903C>T rs886059110 0.00004
NM_172250.3(MMAA):c.*3703T>C rs760429837 0.00004
NM_172250.3(MMAA):c.*4324G>A rs910534961 0.00004
NM_172250.3(MMAA):c.*890G>A rs771012374 0.00004
NM_172250.3(MMAA):c.-4G>A rs374109118 0.00004
NM_172250.3(MMAA):c.440-4G>A rs780768376 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.1229C>T (p.Ala410Val) rs767412638 0.00003
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_000255.4(MMUT):c.*1214C>A rs886061551 0.00003
NM_000255.4(MMUT):c.*691T>C rs886061554 0.00003
NM_000255.4(MMUT):c.1094A>G (p.Asn365Ser) rs1196513317 0.00003
NM_000255.4(MMUT):c.1208G>A (p.Arg403Gln) rs774457503 0.00003
NM_000255.4(MMUT):c.1614C>T (p.Thr538=) rs766999822 0.00003
NM_000255.4(MMUT):c.38C>T (p.Pro13Leu) rs1057518979 0.00003
NM_000255.4(MMUT):c.598A>G (p.Ile200Val) rs772104231 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.1929C>T (p.Ala643=) rs772945583 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.802C>T (p.Arg268Cys) rs774738181 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_001017989.3(OPA3):c.217G>T (p.Glu73Ter) rs759861826 0.00003
NM_001081.4(CUBN):c.*15G>A rs751434522 0.00003
NM_001081.4(CUBN):c.*297C>T rs886046857 0.00003
NM_001081.4(CUBN):c.*373G>T rs780298022 0.00003
NM_001081.4(CUBN):c.*669C>T rs992917155 0.00003
NM_001081.4(CUBN):c.*81C>A rs886046861 0.00003
NM_001081.4(CUBN):c.1653C>T (p.Ser551=) rs372499101 0.00003
NM_001081.4(CUBN):c.2318C>G (p.Thr773Ser) rs200658389 0.00003
NM_001081.4(CUBN):c.2452G>A (p.Gly818Arg) rs141274853 0.00003
NM_001081.4(CUBN):c.3745C>T (p.Arg1249Cys) rs368224687 0.00003
NM_001081.4(CUBN):c.387+13C>T rs766779196 0.00003
NM_001081.4(CUBN):c.6180G>A (p.Gly2060=) rs534571792 0.00003
NM_001081.4(CUBN):c.6277G>A (p.Gly2093Ser) rs759351780 0.00003
NM_001081.4(CUBN):c.6962G>T (p.Ser2321Ile) rs374628341 0.00003
NM_001081.4(CUBN):c.736G>A (p.Val246Ile) rs760990753 0.00003
NM_001081.4(CUBN):c.7403A>G (p.Tyr2468Cys) rs757744293 0.00003
NM_001081.4(CUBN):c.8016C>T (p.Asn2672=) rs151303316 0.00003
NM_001081.4(CUBN):c.8502G>A (p.Thr2834=) rs749545791 0.00003
NM_001081.4(CUBN):c.8971A>T (p.Met2991Leu) rs147160034 0.00003
NM_001243279.3(ACSF3):c.1524G>A (p.Pro508=) rs375187216 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.*1581T>C rs886057069 0.00003
NM_001352514.2(HLCS):c.*1761_*1762del rs886057067 0.00003
NM_001352514.2(HLCS):c.*334A>G rs886057073 0.00003
NM_001352514.2(HLCS):c.*779A>T rs886057072 0.00003
NM_001352514.2(HLCS):c.*985C>A rs886057071 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.1821G>A (p.Leu607=) rs147495853 0.00003
NM_001352514.2(HLCS):c.206A>G (p.Asp69Gly) rs886057080 0.00003
NM_001352514.2(HLCS):c.2121+1G>A rs1175936807 0.00003
NM_001352514.2(HLCS):c.2584G>A (p.Asp862Asn) rs140014588 0.00003
NM_001352514.2(HLCS):c.569C>T (p.Pro190Leu) rs534858065 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.1471C>G (p.Gln491Glu) rs397514427 0.00003
NM_001370658.1(BTD):c.377C>G (p.Pro126Arg) rs371116229 0.00003
NM_001370658.1(BTD):c.581A>G (p.Asn194Ser) rs397514377 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.*3431C>G rs886046800 0.00003
NM_001609.4(ACADSB):c.*59G>A rs886046784 0.00003
NM_001609.4(ACADSB):c.*6A>G rs530087761 0.00003
NM_001609.4(ACADSB):c.*973A>G rs886046786 0.00003
NM_001609.4(ACADSB):c.1128+3A>T rs760423996 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_001609.4(ACADSB):c.675T>C (p.Pro225=) rs770933347 0.00003
NM_001698.3(AUH):c.746A>G (p.Lys249Arg) rs752072326 0.00003
NM_002225.3(IVD):c.-237G>C rs749128466 0.00003
NM_002225.5(IVD):c.*699G>A rs1039225701 0.00003
NM_002225.5(IVD):c.1001T>C (p.Met334Thr) rs368041528 0.00003
NM_002225.5(IVD):c.1139-8G>C rs755640305 0.00003
NM_002225.5(IVD):c.264C>T (p.Gly88=) rs377199313 0.00003
NM_002225.5(IVD):c.334A>T (p.Met112Leu) rs772021923 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.4566G>A (p.Ser1522=) rs371874117 0.00003
NM_005334.3(HCFC1):c.4733C>T (p.Thr1578Ile) rs1252960661 0.00003
NM_014384.3(ACAD8):c.1233C>T (p.Ser411=) rs146145710 0.00003
NM_014384.3(ACAD8):c.730C>T (p.Arg244Ter) rs746960051 0.00003
NM_015506.3(MMACHC):c.566G>A (p.Arg189His) rs761221416 0.00003
NM_015702.3(MMADHC):c.*267T>C rs546054980 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.417G>A (p.Thr139=) rs934259733 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.*1539G>T rs1031741545 0.00003
NM_022132.5(MCCC2):c.*719del rs886060742 0.00003
NM_022132.5(MCCC2):c.1206A>G (p.Gln402=) rs749406136 0.00003
NM_022132.5(MCCC2):c.1344A>G (p.Gly448=) rs201238842 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_022132.5(MCCC2):c.864G>A (p.Arg288=) rs368236133 0.00003
NM_025136.4(OPA3):c.*1214G>A rs368652706 0.00003
NM_025136.4(OPA3):c.*1693C>T rs904110306 0.00003
NM_025136.4(OPA3):c.*2089T>C rs886054529 0.00003
NM_025136.4(OPA3):c.*3128C>G rs143702010 0.00003
NM_025136.4(OPA3):c.*3754C>T rs981647131 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.1828+3A>G rs773193644 0.00003
NM_032861.4(SERAC1):c.329C>T (p.Ala110Val) rs368403843 0.00003
NM_052845.4(MMAB):c.*1428C>T rs757325398 0.00003
NM_052845.4(MMAB):c.*2739C>T rs759550993 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_052845.4(MMAB):c.732G>A (p.Ser244=) rs186864802 0.00003
NM_145261.4(DNAJC19):c.59G>A (p.Arg20His) rs756192515 0.00003
NM_172250.3(MMAA):c.*1273C>T rs1001420347 0.00003
NM_172250.3(MMAA):c.*1779T>C rs886059097 0.00003
NM_172250.3(MMAA):c.*1940T>C rs1054381866 0.00003
NM_172250.3(MMAA):c.*3801A>G rs886059116 0.00003
NM_172250.3(MMAA):c.*4457A>G rs896375111 0.00003
NM_172250.3(MMAA):c.-71G>C rs992491091 0.00003
NM_172250.3(MMAA):c.587G>A (p.Arg196Gln) rs144389160 0.00003
NM_000019.3(ACAT1):c.*365C>T rs145398051 0.00002
NM_000019.3(ACAT1):c.*393A>G rs886047601 0.00002
NM_000019.4(ACAT1):c.765A>T (p.Glu255Asp) rs794727893 0.00002
NM_000019.4(ACAT1):c.776T>C (p.Val259Ala) rs746059964 0.00002
NM_000019.4(ACAT1):c.990A>G (p.Val330=) rs764361167 0.00002
NM_000116.5(TAFAZZIN):c.*33G>A rs782129745 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.351G>A (p.Lys117=) rs782564325 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_000191.2(HMGCL):c.-41G>C rs886046315 0.00002
NM_000191.3(HMGCL):c.*366G>A rs1470010250 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.404C>T (p.Thr135Ile) rs370010993 0.00002
NM_000191.3(HMGCL):c.409A>G (p.Lys137Glu) rs377359510 0.00002
NM_000191.3(HMGCL):c.493C>T (p.Arg165Trp) rs764039230 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_000191.3(HMGCL):c.828G>A (p.Leu276=) rs771024022 0.00002
NM_000255.4(MMUT):c.1355T>A (p.Met452Lys) rs760718889 0.00002
NM_000255.4(MMUT):c.161A>G (p.Lys54Arg) rs559152765 0.00002
NM_000255.4(MMUT):c.227G>A (p.Arg76Lys) rs1252414363 0.00002
NM_000255.4(MMUT):c.431G>A (p.Arg144His) rs776621768 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.638-5G>A rs764316702 0.00002
NM_000282.4(PCCA):c.717-4A>G rs1046922650 0.00002
NM_000282.4(PCCA):c.809T>C (p.Ile270Thr) rs773749632 0.00002
NM_000282.4(PCCA):c.946A>T (p.Met316Leu) rs200311920 0.00002
NM_000282.4(PCCA):c.955C>G (p.Gln319Glu) rs750840362 0.00002
NM_000532.5(PCCB):c.-35G>A rs886058016 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.45C>T (p.Ser15=) rs754664563 0.00002
NM_000532.5(PCCB):c.543G>C (p.Leu181=) rs777868289 0.00002
NM_000532.5(PCCB):c.595C>T (p.Pro199Ser) rs371155999 0.00002
NM_000532.5(PCCB):c.836C>T (p.Pro279Leu) rs780837200 0.00002
NM_000532.5(PCCB):c.889C>T (p.Arg297Cys) rs549397464 0.00002
NM_001081.4(CUBN):c.*564G>C rs184284227 0.00002
NM_001081.4(CUBN):c.10853G>A (p.Arg3618Gln) rs780837561 0.00002
NM_001081.4(CUBN):c.3517A>G (p.Ser1173Gly) rs768104200 0.00002
NM_001081.4(CUBN):c.4375T>G (p.Ser1459Ala) rs886046875 0.00002
NM_001081.4(CUBN):c.4598A>G (p.Asn1533Ser) rs1025505410 0.00002
NM_001081.4(CUBN):c.4811G>T (p.Gly1604Val) rs751110627 0.00002
NM_001081.4(CUBN):c.483G>A (p.Gln161=) rs371508247 0.00002
NM_001081.4(CUBN):c.5758G>A (p.Ala1920Thr) rs770772474 0.00002
NM_001081.4(CUBN):c.5917A>G (p.Ile1973Val) rs556462218 0.00002
NM_001081.4(CUBN):c.6282A>T (p.Gly2094=) rs576557890 0.00002
NM_001081.4(CUBN):c.8204A>C (p.Asp2735Ala) rs558369938 0.00002
NM_001081.4(CUBN):c.8254G>T (p.Gly2752Cys) rs747786939 0.00002
NM_001081.4(CUBN):c.8382T>C (p.Phe2794=) rs200808196 0.00002
NM_001081.4(CUBN):c.8831T>C (p.Met2944Thr) rs544783535 0.00002
NM_001243279.3(ACSF3):c.1543C>T (p.Arg515Trp) rs563580010 0.00002
NM_001243279.3(ACSF3):c.1671G>A (p.Pro557=) rs747338200 0.00002
NM_001243279.3(ACSF3):c.313G>A (p.Asp105Asn) rs145969050 0.00002
NM_001243279.3(ACSF3):c.31C>T (p.Arg11Cys) rs901081235 0.00002
NM_001243279.3(ACSF3):c.480C>T (p.Val160=) rs375671065 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.*1071G>A rs987334114 0.00002
NM_001352514.2(HLCS):c.*14C>T rs778616712 0.00002
NM_001352514.2(HLCS):c.1808A>G (p.Tyr603Cys) rs781603756 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.2152G>A (p.Asp718Asn) rs119103228 0.00002
NM_001352514.2(HLCS):c.2340C>T (p.Ala780=) rs760265551 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.-87G>T rs755119589 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.1406A>C (p.Asn469Thr) rs104893692 0.00002
NM_001370658.1(BTD):c.1425C>A (p.Ile475=) rs780182371 0.00002
NM_001370658.1(BTD):c.616A>G (p.Lys206Glu) rs1003975438 0.00002
NM_001370658.1(BTD):c.635T>G (p.Phe212Cys) rs768097543 0.00002
NM_001370658.1(BTD):c.751G>T (p.Ala251Ser) rs144575084 0.00002
NM_001609.4(ACADSB):c.*1981G>A rs1267140155 0.00002
NM_001609.4(ACADSB):c.*263G>A rs1009551388 0.00002
NM_001609.4(ACADSB):c.*3941C>A rs886046804 0.00002
NM_001609.4(ACADSB):c.*57G>A rs886046783 0.00002
NM_001609.4(ACADSB):c.1100C>T (p.Ala367Val) rs745900584 0.00002
NM_001609.4(ACADSB):c.1184C>T (p.Thr395Ile) rs752034695 0.00002
NM_001609.4(ACADSB):c.260C>T (p.Ser87Leu) rs745481903 0.00002
NM_001698.3(AUH):c.655+7G>A rs748099966 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.*112G>T rs558721558 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.1138+13C>T rs770658726 0.00002
NM_002225.5(IVD):c.268T>A (p.Leu90Met) rs780854004 0.00002
NM_002225.5(IVD):c.357C>T (p.Ser119=) rs776924775 0.00002
NM_002225.5(IVD):c.596G>T (p.Gly199Val) rs121434285 0.00002
NM_002225.5(IVD):c.865G>A (p.Gly289Arg) rs568885234 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.1429G>A (p.Ala477Thr) rs782010359 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.4315A>C (p.Asn1439His) rs782138046 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_014362.4(HIBCH):c.353T>C (p.Phe118Ser) rs758938066 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.491-6C>T rs772337149 0.00002
NM_014384.3(ACAD8):c.841+6A>C rs199738913 0.00002
NM_015506.2(MMACHC):c.-123A>T rs539415170 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_015506.3(MMACHC):c.840del (p.Gly281fs) rs757384010 0.00002
NM_015702.3(MMADHC):c.364G>A (p.Glu122Lys) rs777544556 0.00002
NM_015702.3(MMADHC):c.373G>C (p.Gly125Arg) rs760971849 0.00002
NM_015702.3(MMADHC):c.697-3C>T rs770272562 0.00002
NM_015702.3(MMADHC):c.743G>A (p.Arg248His) rs756858861 0.00002
NM_015702.3(MMADHC):c.800A>G (p.His267Arg) rs753424109 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_018368.4(LMBRD1):c.897C>T (p.Gly299=) rs757392138 0.00002
NM_020166.5(MCCC1):c.1226G>T (p.Arg409Leu) rs371219844 0.00002
NM_020166.5(MCCC1):c.144C>T (p.Asn48=) rs77681010 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.1644G>A (p.Ser548=) rs150835353 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.295G>A (p.Gly99Ser) rs375244642 0.00002
NM_020166.5(MCCC1):c.387C>T (p.Cys129=) rs761110034 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.695G>A (p.Arg232Gln) rs148088842 0.00002
NM_020166.5(MCCC1):c.758C>T (p.Pro253Leu) rs202083272 0.00002
NM_020166.5(MCCC1):c.898A>G (p.Lys300Glu) rs753650692 0.00002
NM_022132.5(MCCC2):c.*659C>T rs886060740 0.00002
NM_022132.5(MCCC2):c.1124T>C (p.Val375Ala) rs752139859 0.00002
NM_022132.5(MCCC2):c.129+3A>G rs1352606118 0.00002
NM_022132.5(MCCC2):c.1334A>G (p.Tyr445Cys) rs145475202 0.00002
NM_022132.5(MCCC2):c.1488+10del rs767400522 0.00002
NM_022132.5(MCCC2):c.1665G>T (p.Lys555Asn) rs771011115 0.00002
NM_022132.5(MCCC2):c.568C>T (p.His190Tyr) rs773774134 0.00002
NM_025136.4(OPA3):c.*1095C>A rs148228876 0.00002
NM_025136.4(OPA3):c.*420A>G rs868102539 0.00002
NM_025136.4(OPA3):c.*4439C>T rs538388889 0.00002
NM_025136.4(OPA3):c.*5644A>G rs1393651897 0.00002
NM_025136.4(OPA3):c.*5783G>A rs550679720 0.00002
NM_025136.4(OPA3):c.*6124C>T rs1389766474 0.00002
NM_025136.4(OPA3):c.*964G>A rs1969350328 0.00002
NM_025136.4(OPA3):c.15G>C (p.Ala5=) rs763315476 0.00002
NM_025136.4(OPA3):c.241G>A (p.Ala81Thr) rs186796646 0.00002
NM_030943.4(AMN):c.1324G>A (p.Val442Ile) rs760175392 0.00002
NM_032861.4(SERAC1):c.1270A>G (p.Met424Val) rs367903368 0.00002
NM_032861.4(SERAC1):c.1309-19T>G rs372001660 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.*1747A>G rs886048917 0.00002
NM_052845.4(MMAB):c.*2619A>T rs778528128 0.00002
NM_052845.4(MMAB):c.*2783G>A rs1012338830 0.00002
NM_052845.4(MMAB):c.*2890C>T rs1005573398 0.00002
NM_052845.4(MMAB):c.298C>T (p.Leu100=) rs751553040 0.00002
NM_052845.4(MMAB):c.372C>T (p.Val124=) rs371092213 0.00002
NM_052845.4(MMAB):c.373G>A (p.Gly125Ser) rs193015172 0.00002
NM_052845.4(MMAB):c.548A>T (p.His183Leu) rs752866643 0.00002
NM_052845.4(MMAB):c.589G>T (p.Val197Leu) rs780166156 0.00002
NM_052845.4(MMAB):c.68G>A (p.Gly23Asp) rs767706407 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.*152A>G rs749564150 0.00002
NM_172250.3(MMAA):c.*1918G>A rs755382235 0.00002
NM_172250.3(MMAA):c.347A>G (p.Lys116Arg) rs772082690 0.00002
NM_172250.3(MMAA):c.746C>T (p.Ser249Leu) rs746853773 0.00002
NM_172250.3(MMAA):c.904A>T (p.Ile302Leu) rs369128670 0.00002
NM_000019.3(ACAT1):c.*291A>C rs771132416 0.00001
NM_000019.3(ACAT1):c.*591A>T rs886047604 0.00001
NM_000019.4(ACAT1):c.1167G>A (p.Met389Ile) rs377295639 0.00001
NM_000019.4(ACAT1):c.1191T>C (p.His397=) rs1439617035 0.00001
NM_000019.4(ACAT1):c.1199A>G (p.His400Arg) rs761086326 0.00001
NM_000019.4(ACAT1):c.1200T>C (p.His400=) rs748749897 0.00001
NM_000019.4(ACAT1):c.138T>C (p.Ser46=) rs763375578 0.00001
NM_000019.4(ACAT1):c.155T>C (p.Ile52Thr) rs151080188 0.00001
NM_000019.4(ACAT1):c.171C>A (p.Gly57=) rs757128075 0.00001
NM_000019.4(ACAT1):c.210T>G (p.Ile70Met) rs1465674363 0.00001
NM_000019.4(ACAT1):c.229G>A (p.Glu77Lys) rs772848693 0.00001
NM_000019.4(ACAT1):c.378T>C (p.Cys126=) rs536301499 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.489G>T (p.Met163Ile) rs778705529 0.00001
NM_000019.4(ACAT1):c.532T>C (p.Leu178=) rs370063325 0.00001
NM_000019.4(ACAT1):c.5C>T (p.Ala2Val) rs915506786 0.00001
NM_000019.4(ACAT1):c.754G>A (p.Glu252Lys) rs2077588609 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.*388G>A rs145874467 0.00001
NM_000191.3(HMGCL):c.347C>T (p.Ala116Val) rs368145582 0.00001
NM_000191.3(HMGCL):c.392C>T (p.Ser131Leu) rs1570650181 0.00001
NM_000191.3(HMGCL):c.497+4A>G rs568718845 0.00001
NM_000191.3(HMGCL):c.501C>T (p.Tyr167=) rs200189529 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.602C>A (p.Ser201Tyr) rs760106433 0.00001
NM_000191.3(HMGCL):c.624G>A (p.Val208=) rs747724373 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.787C>A (p.Leu263Ile) rs1025294353 0.00001
NM_000191.3(HMGCL):c.796T>C (p.Cys266Arg) rs757884073 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_000255.4(MMUT):c.*103A>G rs886061558 0.00001
NM_000255.4(MMUT):c.*1319C>T rs541645779 0.00001
NM_000255.4(MMUT):c.*636T>A rs1262925761 0.00001
NM_000255.4(MMUT):c.1091A>C (p.Tyr364Ser) rs563776413 0.00001
NM_000255.4(MMUT):c.1261G>A (p.Val421Met) rs746763824 0.00001
NM_000255.4(MMUT):c.1400G>A (p.Arg467Gln) rs147737629 0.00001
NM_000255.4(MMUT):c.1519A>G (p.Asn507Asp) rs769270504 0.00001
NM_000255.4(MMUT):c.1669C>T (p.Arg557Trp) rs886061559 0.00001
NM_000255.4(MMUT):c.1828C>T (p.Arg610Cys) rs770978452 0.00001
NM_000255.4(MMUT):c.1898T>G (p.Val633Gly) rs200055428 0.00001
NM_000255.4(MMUT):c.1906A>G (p.Thr636Ala) rs569669261 0.00001
NM_000255.4(MMUT):c.191C>T (p.Pro64Leu) rs575038087 0.00001
NM_000255.4(MMUT):c.1970T>C (p.Val657Ala) rs1767102899 0.00001
NM_000255.4(MMUT):c.2206C>T (p.Leu736Phe) rs753461919 0.00001
NM_000255.4(MMUT):c.235A>G (p.Met79Val) rs751177187 0.00001
NM_000255.4(MMUT):c.359A>G (p.Asn120Ser) rs776108716 0.00001
NM_000255.4(MMUT):c.406G>A (p.Val136Ile) rs1767739165 0.00001
NM_000255.4(MMUT):c.422C>T (p.Ala141Val) rs565348836 0.00001
NM_000255.4(MMUT):c.499G>A (p.Val167Met) rs755709278 0.00001
NM_000255.4(MMUT):c.556A>G (p.Met186Val) rs148331800 0.00001
NM_000255.4(MMUT):c.87G>A (p.Gln29=) rs886061560 0.00001
NM_000255.4(MMUT):c.890C>T (p.Thr297Ile) rs547709692 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.1430G>T (p.Gly477Val) rs776355907 0.00001
NM_000282.4(PCCA):c.1445T>C (p.Ile482Thr) rs1349455848 0.00001
NM_000282.4(PCCA):c.1477C>T (p.Arg493Cys) rs753955254 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.1593_1595del (p.Leu532del) rs937519016 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.1746G>A (p.Ser582=) rs192171304 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.1997T>A (p.Met666Lys) rs999241357 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.2173G>A (p.Val725Met) rs747593363 0.00001
NM_000282.4(PCCA):c.223G>C (p.Ala75Pro) rs794727479 0.00001
NM_000282.4(PCCA):c.230G>A (p.Arg77Gln) rs1387778734 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.432A>G (p.Gly144=) rs768756825 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.484G>A (p.Val162Ile) rs1442819667 0.00001
NM_000282.4(PCCA):c.54G>A (p.Gly18=) rs1373903905 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.688C>T (p.Arg230Cys) rs778530330 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.762C>T (p.Gly254=) rs758211858 0.00001
NM_000282.4(PCCA):c.778A>C (p.Ile260Leu) rs769286299 0.00001
NM_000282.4(PCCA):c.893A>G (p.Lys298Arg) rs1444049793 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_000411.8(HLCS):c.-393+7C>T rs886057081 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.1199-8A>G rs886058019 0.00001
NM_000532.5(PCCB):c.1253C>G (p.Ala418Gly) rs770279302 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.1384G>A (p.Val462Ile) rs796052026 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.263A>G (p.His88Arg) rs771333669 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.332G>A (p.Arg111Gln) rs757534748 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.484G>T (p.Gly162Trp) rs754752068 0.00001
NM_000532.5(PCCB):c.563G>C (p.Gly188Ala) rs796052024 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.654+14G>T rs1457950469 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.733G>A (p.Gly245Ser) rs756414710 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_001001563.5(TIMM50):c.854-8G>C rs1166132682 0.00001
NM_001081.4(CUBN):c.*203C>T rs769041830 0.00001
NM_001081.4(CUBN):c.*281A>G rs886046858 0.00001
NM_001081.4(CUBN):c.*446A>G rs1315458918 0.00001
NM_001081.4(CUBN):c.-42G>T rs751905101 0.00001
NM_001081.4(CUBN):c.10012C>A (p.Gln3338Lys) rs755210947 0.00001
NM_001081.4(CUBN):c.10181-14A>G rs886046864 0.00001
NM_001081.4(CUBN):c.1022A>G (p.Gln341Arg) rs149517557 0.00001
NM_001081.4(CUBN):c.10238A>G (p.Asp3413Gly) rs760807440 0.00001
NM_001081.4(CUBN):c.10795T>C (p.Ser3599Pro) rs1177156381 0.00001
NM_001081.4(CUBN):c.1272G>T (p.Trp424Cys) rs563035840 0.00001
NM_001081.4(CUBN):c.1418-9C>A rs779016475 0.00001
NM_001081.4(CUBN):c.164C>T (p.Thr55Met) rs774556167 0.00001
NM_001081.4(CUBN):c.2005T>C (p.Ser669Pro) rs751139014 0.00001
NM_001081.4(CUBN):c.2306G>A (p.Arg769Gln) rs770625165 0.00001
NM_001081.4(CUBN):c.2311G>A (p.Gly771Ser) rs866820343 0.00001
NM_001081.4(CUBN):c.2441A>G (p.Gln814Arg) rs770392464 0.00001
NM_001081.4(CUBN):c.2536A>G (p.Ile846Val) rs775423928 0.00001
NM_001081.4(CUBN):c.265A>C (p.Lys89Gln) rs755860454 0.00001
NM_001081.4(CUBN):c.2795G>A (p.Cys932Tyr) rs572470830 0.00001
NM_001081.4(CUBN):c.2822G>A (p.Gly941Glu) rs757185023 0.00001
NM_001081.4(CUBN):c.3101G>C (p.Gly1034Ala) rs778092585 0.00001
NM_001081.4(CUBN):c.3308A>G (p.Tyr1103Cys) rs760682560 0.00001
NM_001081.4(CUBN):c.3932G>A (p.Arg1311Gln) rs1037514591 0.00001
NM_001081.4(CUBN):c.3944G>A (p.Gly1315Asp) rs773480436 0.00001
NM_001081.4(CUBN):c.4242C>T (p.Asn1414=) rs138052938 0.00001
NM_001081.4(CUBN):c.4907G>T (p.Arg1636Leu) rs538984401 0.00001
NM_001081.4(CUBN):c.5076C>T (p.Leu1692=) rs886046874 0.00001
NM_001081.4(CUBN):c.5131G>A (p.Ala1711Thr) rs768182223 0.00001
NM_001081.4(CUBN):c.5416C>A (p.His1806Asn) rs146438022 0.00001
NM_001081.4(CUBN):c.5548A>T (p.Ile1850Leu) rs200277745 0.00001
NM_001081.4(CUBN):c.5982G>A (p.Pro1994=) rs560009723 0.00001
NM_001081.4(CUBN):c.6211A>G (p.Ile2071Val) rs567146793 0.00001
NM_001081.4(CUBN):c.6728C>T (p.Pro2243Leu) rs544059289 0.00001
NM_001081.4(CUBN):c.6729G>A (p.Pro2243=) rs757609735 0.00001
NM_001081.4(CUBN):c.6821+3A>G rs767078847 0.00001
NM_001081.4(CUBN):c.6847C>T (p.Arg2283Trp) rs150117913 0.00001
NM_001081.4(CUBN):c.7069T>C (p.Tyr2357His) rs376122892 0.00001
NM_001081.4(CUBN):c.7070A>C (p.Tyr2357Ser) rs886046870 0.00001
NM_001081.4(CUBN):c.7084T>A (p.Phe2362Ile) rs757192279 0.00001
NM_001081.4(CUBN):c.7331G>A (p.Arg2444Gln) rs11254274 0.00001
NM_001081.4(CUBN):c.7363G>T (p.Asp2455Tyr) rs761577575 0.00001
NM_001081.4(CUBN):c.7378A>G (p.Ile2460Val) rs565917798 0.00001
NM_001081.4(CUBN):c.7533A>C (p.Ile2511=) rs748416223 0.00001
NM_001081.4(CUBN):c.8095G>A (p.Val2699Met) rs535261179 0.00001
NM_001081.4(CUBN):c.8222C>A (p.Thr2741Asn) rs771697506 0.00001
NM_001081.4(CUBN):c.8479G>A (p.Glu2827Lys) rs373893072 0.00001
NM_001081.4(CUBN):c.8566G>A (p.Gly2856Ser) rs371139445 0.00001
NM_001081.4(CUBN):c.8656G>A (p.Val2886Met) rs200235278 0.00001
NM_001081.4(CUBN):c.8908C>T (p.Arg2970Cys) rs562374248 0.00001
NM_001081.4(CUBN):c.8943C>T (p.Gly2981=) rs767131065 0.00001
NM_001081.4(CUBN):c.9037G>T (p.Val3013Phe) rs1241849194 0.00001
NM_001081.4(CUBN):c.9228C>T (p.Ile3076=) rs976401499 0.00001
NM_001081.4(CUBN):c.9527A>G (p.Asn3176Ser) rs750045664 0.00001
NM_001081.4(CUBN):c.9618G>A (p.Leu3206=) rs559567467 0.00001
NM_001243279.3(ACSF3):c.1004T>A (p.Leu335Gln) rs1358680743 0.00001
NM_001243279.3(ACSF3):c.1013C>T (p.Pro338Leu) rs779630954 0.00001
NM_001243279.3(ACSF3):c.1087G>A (p.Ala363Thr) rs1184733927 0.00001
NM_001243279.3(ACSF3):c.1096G>A (p.Gly366Arg) rs142288136 0.00001
NM_001243279.3(ACSF3):c.1127-7C>G rs761564953 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.1444T>C (p.Tyr482His) rs776369896 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.356G>A (p.Gly119Asp) rs754782061 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.673G>A (p.Gly225Arg) rs775694971 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.1308C>G (p.Ile436Met) rs140355579 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.1840C>G (p.Pro614Ala) rs1331493457 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_001287444.2(DCDC2C):c.955-1G>C rs1167362443 0.00001
NM_001352514.2(HLCS):c.*1766G>A rs537534748 0.00001
NM_001352514.2(HLCS):c.*2434G>T rs886057062 0.00001
NM_001352514.2(HLCS):c.*2700C>T rs140135359 0.00001
NM_001352514.2(HLCS):c.*2847G>A rs1269300334 0.00001
NM_001352514.2(HLCS):c.*3043A>G rs539444862 0.00001
NM_001352514.2(HLCS):c.*3209C>T rs886057059 0.00001
NM_001352514.2(HLCS):c.*448G>C rs772947158 0.00001
NM_001352514.2(HLCS):c.1192A>G (p.Thr398Ala) rs1259711297 0.00001
NM_001352514.2(HLCS):c.1369G>A (p.Glu457Lys) rs763927037 0.00001
NM_001352514.2(HLCS):c.1719C>T (p.Tyr573=) rs148814769 0.00001
NM_001352514.2(HLCS):c.1850T>C (p.Leu617Ser) rs1261821166 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.2225A>G (p.Tyr742Cys) rs1464046978 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.2443G>A (p.Val815Ile) rs144116568 0.00001
NM_001352514.2(HLCS):c.2451-1G>A rs1158898827 0.00001
NM_001352514.2(HLCS):c.2485C>A (p.Pro829Thr) rs1417729542 0.00001
NM_001352514.2(HLCS):c.2519G>C (p.Gly840Ala) rs764148793 0.00001
NM_001352514.2(HLCS):c.2567C>T (p.Pro856Leu) rs1260631800 0.00001
NM_001352514.2(HLCS):c.2568G>A (p.Pro856=) rs745670538 0.00001
NM_001352514.2(HLCS):c.2585A>C (p.Asp862Ala) rs752737867 0.00001
NM_001352514.2(HLCS):c.442A>G (p.Met148Val) rs764841449 0.00001
NM_001352514.2(HLCS):c.445G>A (p.Glu149Lys) rs148981273 0.00001
NM_001352514.2(HLCS):c.494-8T>A rs778287214 0.00001
NM_001352514.2(HLCS):c.500A>G (p.His167Arg) rs577182758 0.00001
NM_001352514.2(HLCS):c.529A>G (p.Lys177Glu) rs759396333 0.00001
NM_001352514.2(HLCS):c.609C>T (p.Asp203=) rs370118884 0.00001
NM_001352514.2(HLCS):c.723C>A (p.Gly241=) rs886057077 0.00001
NM_001352514.2(HLCS):c.790A>G (p.Ile264Val) rs1342427477 0.00001
NM_001352514.2(HLCS):c.840C>T (p.Tyr280=) rs779907293 0.00001
NM_001352514.2(HLCS):c.970G>A (p.Gly324Ser) rs574778377 0.00001
NM_001370658.1(BTD):c.*57T>A rs886058118 0.00001
NM_001370658.1(BTD):c.-59T>A rs768258310 0.00001
NM_001370658.1(BTD):c.-74G>A rs200884349 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.1112C>T (p.Pro371Leu) rs375239909 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.1207T>C (p.Cys403Arg) rs397514412 0.00001
NM_001370658.1(BTD):c.1246G>A (p.Glu416Lys) rs749460715 0.00001
NM_001370658.1(BTD):c.1292G>A (p.Gly431Asp) rs397514419 0.00001
NM_001370658.1(BTD):c.1333G>T (p.Gly445Cys) rs746099217 0.00001
NM_001370658.1(BTD):c.1334G>T (p.Gly445Val) rs1223614917 0.00001
NM_001370658.1(BTD):c.136C>A (p.Pro46Thr) rs778785164 0.00001
NM_001370658.1(BTD):c.1379G>A (p.Gly460Glu) rs558477960 0.00001
NM_001370658.1(BTD):c.140C>G (p.Ser47Cys) rs747489101 0.00001
NM_001370658.1(BTD):c.1473G>C (p.Gln491His) rs764375610 0.00001
NM_001370658.1(BTD):c.1543C>G (p.Leu515Val) rs771537277 0.00001
NM_001370658.1(BTD):c.176G>A (p.Arg59His) rs397514343 0.00001
NM_001370658.1(BTD):c.250-15del rs587783008 0.00001
NM_001370658.1(BTD):c.296A>G (p.Asn99Ser) rs397514353 0.00001
NM_001370658.1(BTD):c.320C>T (p.Pro107Leu) rs575787457 0.00001
NM_001370658.1(BTD):c.385T>C (p.Phe129Leu) rs397514359 0.00001
NM_001370658.1(BTD):c.409C>T (p.Arg137Cys) rs397514363 0.00001
NM_001370658.1(BTD):c.40G>A (p.Gly14Ser) rs119103232 0.00001
NM_001370658.1(BTD):c.425C>T (p.Ala142Val) rs397514364 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.523A>G (p.Asn175Asp) rs397514370 0.00001
NM_001370658.1(BTD):c.545A>G (p.Asn182Ser) rs397514376 0.00001
NM_001370658.1(BTD):c.572G>A (p.Arg191His) rs112195009 0.00001
NM_001370658.1(BTD):c.591T>G (p.Phe197Leu) rs767750851 0.00001
NM_001370658.1(BTD):c.649G>A (p.Ala217Thr) rs397514381 0.00001
NM_001370658.1(BTD):c.683T>C (p.Ile228Thr) rs397514382 0.00001
NM_001370658.1(BTD):c.697C>T (p.Pro233Ser) rs397514383 0.00001
NM_001370658.1(BTD):c.704T>C (p.Ile235Thr) rs397514384 0.00001
NM_001370658.1(BTD):c.875G>A (p.Gly292Asp) rs377651057 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.*1942C>T rs886046794 0.00001
NM_001609.4(ACADSB):c.*4177G>A rs886046806 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.1229-15T>G rs371377486 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.219G>A (p.Gln73=) rs756256851 0.00001
NM_001609.4(ACADSB):c.265A>G (p.Met89Val) rs372537859 0.00001
NM_001609.4(ACADSB):c.303+3A>G rs1345480688 0.00001
NM_001609.4(ACADSB):c.512T>G (p.Val171Gly) rs1343737959 0.00001
NM_001609.4(ACADSB):c.680T>C (p.Ile227Thr) rs755158007 0.00001
NM_001609.4(ACADSB):c.681+14C>T rs748185849 0.00001
NM_001609.4(ACADSB):c.796G>A (p.Glu266Lys) rs1266747835 0.00001
NM_001609.4(ACADSB):c.95T>A (p.Val32Asp) rs751722805 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.84G>T (p.Ala28=) rs1057515676 0.00001
NM_001698.3(AUH):c.860G>C (p.Arg287Thr) rs1826877739 0.00001
NM_001698.3(AUH):c.894+9C>A rs1388023086 0.00001
NM_001698.3(AUH):c.898G>A (p.Asp300Asn) rs746215620 0.00001
NM_002225.3(IVD):c.-315C>G rs886051126 0.00001
NM_002225.5(IVD):c.*1090A>G rs1257277262 0.00001
NM_002225.5(IVD):c.*1117G>A rs886051132 0.00001
NM_002225.5(IVD):c.*1636G>A rs560135738 0.00001
NM_002225.5(IVD):c.*196G>A rs1417892978 0.00001
NM_002225.5(IVD):c.*2005G>A rs886051135 0.00001
NM_002225.5(IVD):c.*204T>G rs886051127 0.00001
NM_002225.5(IVD):c.*652C>T rs761306144 0.00001
NM_002225.5(IVD):c.*798A>G rs1278287842 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.1139-3C>G rs367891946 0.00001
NM_002225.5(IVD):c.1160A>G (p.Asp387Gly) rs1163816425 0.00001
NM_002225.5(IVD):c.1184G>A (p.Arg395Gln) rs1477527791 0.00001
NM_002225.5(IVD):c.1205T>C (p.Ile402Thr) rs763422682 0.00001
NM_002225.5(IVD):c.124C>G (p.Leu42Val) rs777674887 0.00001
NM_002225.5(IVD):c.150T>A (p.Arg50=) rs762440985 0.00001
NM_002225.5(IVD):c.202A>G (p.Ile68Val) rs758926864 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.539C>T (p.Ala180Val) rs559732306 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.784+9C>T rs1891254953 0.00001
NM_002225.5(IVD):c.796C>G (p.Leu266Val) rs766980574 0.00001
NM_002225.5(IVD):c.803A>G (p.His268Arg) rs201778625 0.00001
NM_002225.5(IVD):c.833G>C (p.Ser278Thr) rs746615207 0.00001
NM_002225.5(IVD):c.994C>T (p.Arg332Cys) rs1891643589 0.00001
NM_004813.4(PEX16):c.710T>G (p.Leu237Arg) rs753577538 0.00001
NM_005050.4(ABCD4):c.1019A>G (p.Tyr340Cys) rs1446995315 0.00001
NM_005050.4(ABCD4):c.1093G>T (p.Gly365Cys) rs201100662 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.1794G>C (p.Trp598Cys) rs773609274 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.2690C>T (p.Ala897Val) rs781971515 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.4153A>G (p.Arg1385Gly) rs781783048 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.4376C>T (p.Thr1459Ile) rs935130398 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_014362.4(HIBCH):c.365A>G (p.Tyr122Cys) rs121918329 0.00001
NM_014362.4(HIBCH):c.790C>T (p.His264Tyr) rs1280144449 0.00001
NM_014384.3(ACAD8):c.*351C>G rs561907589 0.00001
NM_014384.3(ACAD8):c.1092C>T (p.Ala364=) rs146813391 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.380+7G>A rs1335335796 0.00001
NM_014384.3(ACAD8):c.494G>C (p.Ser165Thr) rs988461205 0.00001
NM_014384.3(ACAD8):c.525C>T (p.Ser175=) rs142343253 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.558T>C (p.Asn186=) rs886048025 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.842-15G>A rs778257880 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_014384.3(ACAD8):c.988C>T (p.Arg330Trp) rs121908420 0.00001
NM_014384.3(ACAD8):c.99C>T (p.Ser33=) rs886048021 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.230A>G (p.Asp77Gly) rs1217366809 0.00001
NM_015506.3(MMACHC):c.334C>T (p.Arg112Cys) rs187869948 0.00001
NM_015506.3(MMACHC):c.349G>C (p.Ala117Pro) rs752205161 0.00001
NM_015506.3(MMACHC):c.38A>C (p.Glu13Ala) rs1010232462 0.00001
NM_015506.3(MMACHC):c.403G>T (p.Val135Leu) rs886046368 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_015506.3(MMACHC):c.616C>T (p.Arg206Trp) rs538023671 0.00001
NM_015506.3(MMACHC):c.687A>G (p.Gln229=) rs369621922 0.00001
NM_015506.3(MMACHC):c.849A>G (p.Ter283Trp) rs769732556 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.244T>G (p.Cys82Gly) rs760590651 0.00001
NM_015702.3(MMADHC):c.406A>G (p.Ser136Gly) rs1345924349 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.116G>A (p.Arg39Gln) rs886061692 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.41G>C (p.Gly14Ala) rs201773048 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_018368.4(LMBRD1):c.867T>A (p.Ile289=) rs747318789 0.00001
NM_018368.4(LMBRD1):c.907C>A (p.Pro303Thr) rs752377027 0.00001
NM_020166.5(MCCC1):c.*90G>A rs894828851 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.1261C>T (p.Arg421Trp) rs764744442 0.00001
NM_020166.5(MCCC1):c.1268-7A>G rs1417892958 0.00001
NM_020166.5(MCCC1):c.1281C>T (p.Ser427=) rs763713221 0.00001
NM_020166.5(MCCC1):c.1330C>T (p.Arg444Cys) rs375996272 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.1399A>T (p.Ile467Phe) rs727504003 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.1722T>C (p.Tyr574=) rs747015041 0.00001
NM_020166.5(MCCC1):c.1730A>G (p.Gln577Arg) rs749473644 0.00001
NM_020166.5(MCCC1):c.1839C>A (p.Ile613=) rs201782543 0.00001
NM_020166.5(MCCC1):c.1842G>A (p.Leu614=) rs758827154 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.314A>G (p.Gln105Arg) rs746430473 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.492-4A>G rs908545297 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.863A>G (p.Glu288Gly) rs746500530 0.00001
NM_020166.5(MCCC1):c.877G>A (p.Gly293Ser) rs974953181 0.00001
NM_020166.5(MCCC1):c.9G>A (p.Ala3=) rs1191355416 0.00001
NM_022132.5(MCCC2):c.*1144A>G rs886060747 0.00001
NM_022132.5(MCCC2):c.*6A>G rs1249235767 0.00001
NM_022132.5(MCCC2):c.*719A>G rs986206032 0.00001
NM_022132.5(MCCC2):c.*839T>C rs886060743 0.00001
NM_022132.5(MCCC2):c.*878T>G rs886060745 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.1342G>A (p.Gly448Arg) rs766045910 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.1441G>A (p.Val481Met) rs767575019 0.00001
NM_022132.5(MCCC2):c.1474C>T (p.Arg492Trp) rs531891095 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.1574+5G>A rs781483923 0.00001
NM_022132.5(MCCC2):c.1619T>A (p.Val540Asp) rs766384881 0.00001
NM_022132.5(MCCC2):c.1640C>T (p.Ala547Val) rs778172446 0.00001
NM_022132.5(MCCC2):c.1653A>G (p.Ala551=) rs749529082 0.00001
NM_022132.5(MCCC2):c.1688T>C (p.Met563Thr) rs373922744 0.00001
NM_022132.5(MCCC2):c.258A>G (p.Arg86=) rs550220664 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.330C>T (p.Asp110=) rs201872484 0.00001
NM_022132.5(MCCC2):c.385G>A (p.Val129Ile) rs1214498152 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.499T>C (p.Cys167Arg) rs119103222 0.00001
NM_022132.5(MCCC2):c.578G>A (p.Arg193His) rs535519604 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.675C>A (p.Ala225=) rs781610298 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.*1052C>T rs539341907 0.00001
NM_025136.4(OPA3):c.*1063G>A rs1384983234 0.00001
NM_025136.4(OPA3):c.*1193A>G rs1969345485 0.00001
NM_025136.4(OPA3):c.*1496C>T rs938973035 0.00001
NM_025136.4(OPA3):c.*1799A>G rs886054530 0.00001
NM_025136.4(OPA3):c.*2041C>G rs1200054696 0.00001
NM_025136.4(OPA3):c.*2620C>A rs528208456 0.00001
NM_025136.4(OPA3):c.*322A>G rs886054539 0.00001
NM_025136.4(OPA3):c.*3472G>A rs1305422353 0.00001
NM_025136.4(OPA3):c.*3581C>T rs576070088 0.00001
NM_025136.4(OPA3):c.*4464G>T rs886054522 0.00001
NM_025136.4(OPA3):c.*4763C>A rs549495140 0.00001
NM_025136.4(OPA3):c.*4919_*4921del rs886054514 0.00001
NM_025136.4(OPA3):c.*5888C>T rs886054508 0.00001
NM_025136.4(OPA3):c.*6046G>A rs1010630541 0.00001
NM_025136.4(OPA3):c.*6461C>T rs886054505 0.00001
NM_025136.4(OPA3):c.*6773G>T rs886054504 0.00001
NM_025136.4(OPA3):c.*7072A>T rs1247746346 0.00001
NM_025136.4(OPA3):c.*7183G>A rs941194280 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.367C>T (p.Arg123Trp) rs1022155897 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.416A>G (p.Gln139Arg) rs1399150102 0.00001
NM_025136.4(OPA3):c.444C>T (p.Ala148=) rs759536853 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_025136.4(OPA3):c.94C>A (p.Arg32Ser) rs753632531 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_032861.4(SERAC1):c.935C>T (p.Pro312Leu) rs1455975616 0.00001
NM_052845.3(MMAB):c.-69G>A rs886048928 0.00001
NM_052845.4(MMAB):c.*2913C>T rs901387869 0.00001
NM_052845.4(MMAB):c.*716C>T rs886048921 0.00001
NM_052845.4(MMAB):c.116G>A (p.Gly39Asp) rs1466525448 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.349-10C>T rs896742047 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.516G>T (p.Leu172=) rs914000089 0.00001
NM_052845.4(MMAB):c.522G>A (p.Ser174=) rs545625368 0.00001
NM_052845.4(MMAB):c.577G>A (p.Glu193Lys) rs749758687 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.625G>A (p.Val209Met) rs200903284 0.00001
NM_052845.4(MMAB):c.644+6C>T rs376868629 0.00001
NM_052845.4(MMAB):c.654C>G (p.Asp218Glu) rs940651669 0.00001
NM_052845.4(MMAB):c.99G>A (p.Gln33=) rs749127574 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.*1819C>G rs983321169 0.00001
NM_172250.3(MMAA):c.*229T>C rs886059092 0.00001
NM_172250.3(MMAA):c.*2378A>G rs886059104 0.00001
NM_172250.3(MMAA):c.*2444C>G rs934446234 0.00001
NM_172250.3(MMAA):c.*2479G>A rs886059107 0.00001
NM_172250.3(MMAA):c.*2627A>G rs886059109 0.00001
NM_172250.3(MMAA):c.*353C>A rs1302018790 0.00001
NM_172250.3(MMAA):c.*4504C>A rs1009787082 0.00001
NM_172250.3(MMAA):c.*540A>T rs886059094 0.00001
NM_172250.3(MMAA):c.*67G>A rs886059090 0.00001
NM_172250.3(MMAA):c.1055G>A (p.Ser352Asn) rs756437003 0.00001
NM_172250.3(MMAA):c.1099A>G (p.Met367Val) rs754474832 0.00001
NM_172250.3(MMAA):c.1157G>A (p.Arg386Gln) rs191643294 0.00001
NM_172250.3(MMAA):c.124C>G (p.Gln42Glu) rs758345818 0.00001
NM_172250.3(MMAA):c.129G>A (p.Pro43=) rs779779664 0.00001
NM_172250.3(MMAA):c.304G>A (p.Ala102Thr) rs1328584680 0.00001
NM_172250.3(MMAA):c.313A>G (p.Ile105Val) rs1284134117 0.00001
NM_172250.3(MMAA):c.367C>T (p.Leu123Phe) rs965827040 0.00001
NM_172250.3(MMAA):c.400G>C (p.Glu134Gln) rs369113922 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.722T>C (p.Ile241Thr) rs371068331 0.00001
NM_172250.3(MMAA):c.734-7A>G rs753938949 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.833G>A (p.Gly278Asp) rs761964238 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_000019.10:g.39480831G>A rs1600735654
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_000019.3(ACAT1):c.*234_*235delCT rs1295289344
NM_000019.3(ACAT1):c.*467_*470dup rs537463051
NM_000019.3(ACAT1):c.*668G>T rs2077754843
NM_000019.3(ACAT1):c.*675A>C rs886047605
NM_000019.3(ACAT1):c.*703T>C rs188826374
NM_000019.4(ACAT1):c.*107dup rs886047598
NM_000019.4(ACAT1):c.*123_*127dup rs556749538
NM_000019.4(ACAT1):c.*55T>C rs886047597
NM_000019.4(ACAT1):c.-22C>T rs3741054
NM_000019.4(ACAT1):c.1006-10A>G rs886047596
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.10C>G (p.Leu4Val) rs774524997
NM_000019.4(ACAT1):c.1105A>G (p.Ile369Val) rs1591374695
NM_000019.4(ACAT1):c.1183G>C (p.Val395Leu)
NM_000019.4(ACAT1):c.1200_1207del (p.His400fs) rs1057520091
NM_000019.4(ACAT1):c.1207A>T (p.Lys403Ter)
NM_000019.4(ACAT1):c.121-3C>G rs1591361919
NM_000019.4(ACAT1):c.1219T>C (p.Tyr407His)
NM_000019.4(ACAT1):c.1222G>C (p.Gly408Arg) rs553101581
NM_000019.4(ACAT1):c.1240A>G (p.Asn414Asp) rs2134798319
NM_000019.4(ACAT1):c.1253G>A (p.Gly418Asp) rs886042080
NM_000019.4(ACAT1):c.1253_1255dup (p.Gly418dup) rs2077741217
NM_000019.4(ACAT1):c.1269_1270dup (p.Ile424fs)
NM_000019.4(ACAT1):c.1277A>C (p.Lys426Thr) rs2077742350
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.15G>C (p.Ala5=) rs886047594
NM_000019.4(ACAT1):c.163_167delinsAA (p.Phe55_Leu56delinsLys) rs1591361995
NM_000019.4(ACAT1):c.200T>G (p.Leu67Arg)
NM_000019.4(ACAT1):c.209T>C (p.Ile70Thr)
NM_000019.4(ACAT1):c.239-7A>G rs2077417069
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.291A>T (p.Gly97=) rs746216662
NM_000019.4(ACAT1):c.299G>A (p.Gly100Glu) rs1591362472
NM_000019.4(ACAT1):c.29G>A (p.Ser10Asn) rs886047595
NM_000019.4(ACAT1):c.301C>A (p.Gln101Lys) rs1591362483
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.410C>T (p.Ser137Phe)
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.436-4G>C rs3741050
NM_000019.4(ACAT1):c.436G>A (p.Asp146Asn) rs2077523952
NM_000019.4(ACAT1):c.459G>A (p.Met153Ile)
NM_000019.4(ACAT1):c.460G>A (p.Glu154Lys) rs1198149157
NM_000019.4(ACAT1):c.475G>A (p.Val159Ile)
NM_000019.4(ACAT1):c.483T>C (p.Tyr161=) rs1591367485
NM_000019.4(ACAT1):c.49C>T (p.Pro17Ser)
NM_000019.4(ACAT1):c.527A>G (p.Glu176Gly)
NM_000019.4(ACAT1):c.534G>T (p.Leu178Phe) rs1320114846
NM_000019.4(ACAT1):c.575A>G (p.His192Arg) rs2077528154
NM_000019.4(ACAT1):c.592G>A (p.Glu198Lys)
NM_000019.4(ACAT1):c.602C>T (p.Ala201Val) rs1591368724
NM_000019.4(ACAT1):c.622C>G (p.Arg208Gly) rs532190594
NM_000019.4(ACAT1):c.664A>C (p.Ser222Arg) rs1591368826
NM_000019.4(ACAT1):c.670G>C (p.Ala224Pro) rs2134761406
NM_000019.4(ACAT1):c.707T>C (p.Ile236Thr)
NM_000019.4(ACAT1):c.71A>C (p.Gln24Pro) rs2077152202
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.760G>A (p.Glu254Lys) rs1591370241
NM_000019.4(ACAT1):c.764A>C (p.Glu255Ala) rs1591370252
NM_000019.4(ACAT1):c.76A>G (p.Ile26Val)
NM_000019.4(ACAT1):c.826+3_826+6del
NM_000019.4(ACAT1):c.829A>C (p.Thr277Pro) rs1591371019
NM_000019.4(ACAT1):c.838G>A (p.Ala280Thr) rs1318357125
NM_000019.4(ACAT1):c.851G>A (p.Ser284Asn) rs1591371045
NM_000019.4(ACAT1):c.854C>T (p.Thr285Ile) rs1239221388
NM_000019.4(ACAT1):c.886A>T (p.Met296Leu)
NM_000019.4(ACAT1):c.921A>G (p.Thr307=) rs2077610591
NM_000019.4(ACAT1):c.934A>G (p.Ile312Val)
NM_000019.4(ACAT1):c.941-13T>C rs760991373
NM_000019.4(ACAT1):c.941-14_941-13insCT rs1555034894
NM_000019.4(ACAT1):c.947_949dup (p.Ala316dup) rs1591372596
NM_000019.4(ACAT1):c.976C>G (p.Pro326Ala)
NM_000019.4(ACAT1):c.983C>T (p.Ala328Val) rs1057517702
NM_000116.5(TAFAZZIN):c.*165T>A rs2068620449
NM_000116.5(TAFAZZIN):c.*387C>T rs1057515819
NM_000116.5(TAFAZZIN):c.*648A>C rs1413243483
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.149T>A (p.Leu50Gln)
NM_000116.5(TAFAZZIN):c.149T>C (p.Leu50Pro)
NM_000116.5(TAFAZZIN):c.154G>C (p.Glu52Gln)
NM_000116.5(TAFAZZIN):c.161T>A (p.Ile54Asn)
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.211T>C (p.Ser71Pro)
NM_000116.5(TAFAZZIN):c.212C>T (p.Ser71Phe) rs2068330347
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.245T>C (p.Leu82Pro)
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.302A>T (p.Asp101Val)
NM_000116.5(TAFAZZIN):c.308G>A (p.Cys103Tyr)
NM_000116.5(TAFAZZIN):c.310T>G (p.Phe104Val)
NM_000116.5(TAFAZZIN):c.314C>T (p.Thr105Ile)
NM_000116.5(TAFAZZIN):c.322C>A (p.Leu108Ile)
NM_000116.5(TAFAZZIN):c.328T>C (p.Ser110Pro) rs397515739
NM_000116.5(TAFAZZIN):c.334T>C (p.Phe112Leu) rs1281729528
NM_000116.5(TAFAZZIN):c.347G>A (p.Gly116Asp) rs727504327
NM_000116.5(TAFAZZIN):c.349A>G (p.Lys117Glu)
NM_000116.5(TAFAZZIN):c.352T>C (p.Cys118Arg) rs104894937
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.412C>G (p.Leu138Val)
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.481G>A (p.Gly161Arg)
NM_000116.5(TAFAZZIN):c.49T>C (p.Trp17Arg) rs2068313278
NM_000116.5(TAFAZZIN):c.504G>A (p.Lys168=) rs1057515818
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.533T>C (p.Phe178Ser)
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.553A>G (p.Met185Val)
NM_000116.5(TAFAZZIN):c.572G>C (p.Arg191Pro)
NM_000116.5(TAFAZZIN):c.578A>T (p.Lys193Met)
NM_000116.5(TAFAZZIN):c.583+5G>A
NM_000116.5(TAFAZZIN):c.583G>A (p.Gly195Arg) rs878853656
NM_000116.5(TAFAZZIN):c.584G>A (p.Gly195Glu)
NM_000116.5(TAFAZZIN):c.590G>A (p.Gly197Glu) rs397515746
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.626T>A (p.Ile209Asn)
NM_000116.5(TAFAZZIN):c.632C>A (p.Pro211His) rs2148212627
NM_000116.5(TAFAZZIN):c.635T>C (p.Leu212Pro)
NM_000116.5(TAFAZZIN):c.645C>T (p.Val215=)
NM_000116.5(TAFAZZIN):c.647-6C>T rs901353067
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.688C>T (p.Arg230Cys)
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.705C>G (p.Ile235Met)
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.*290T>C rs886046311
NM_000191.3(HMGCL):c.112G>T (p.Val38Phe)
NM_000191.3(HMGCL):c.116G>A (p.Gly39Asp)
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.173A>G (p.Lys58Arg) rs1638633961
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.428T>C (p.Ile143Thr)
NM_000191.3(HMGCL):c.437G>A (p.Ser146Asn) rs1638574066
NM_000191.3(HMGCL):c.482A>G (p.Asn161Ser)
NM_000191.3(HMGCL):c.497+3G>A rs763178392
NM_000191.3(HMGCL):c.497G>T (p.Gly166Val) rs2148422419
NM_000191.3(HMGCL):c.528T>C (p.Tyr176=) rs112508527
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.630C>T (p.Thr210=) rs886046313
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.678_686dup (p.Ala229_Ala231dup) rs1553131921
NM_000191.3(HMGCL):c.685G>A (p.Ala229Thr)
NM_000191.3(HMGCL):c.686C>A (p.Ala229Asp) rs752913892
NM_000191.3(HMGCL):c.708C>T (p.Asp236=) rs886046312
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+14T>A rs778868742
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.765C>T (p.Val255=) rs778296169
NM_000191.3(HMGCL):c.76A>T (p.Met26Leu) rs756958205
NM_000191.3(HMGCL):c.793G>A (p.Gly265Ser)
NM_000191.3(HMGCL):c.795C>G (p.Gly265=) rs1488079271
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.825C>G (p.Asn275Lys) rs1287973337
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.8C>T (p.Ala3Val) rs1638800964
NM_000191.3(HMGCL):c.920G>A (p.Cys307Tyr)
NM_000191.3(HMGCL):c.933C>G (p.Asn311Lys) rs1194563406
NM_000191.3(HMGCL):c.945C>G (p.Ser315Arg) rs1557484629
NM_000191.3(HMGCL):c.958C>T (p.Gln320Ter) rs1553131326
NM_000191.3(HMGCL):c.962C>A (p.Ala321Asp)
NM_000191.3(HMGCL):c.976T>C (p.Ter326Arg) rs1553131320
NM_000191.3(HMGCL):c.977G>C (p.Ter326Ser) rs1303767209
NM_000255.4(MMUT):c.*1182T>C rs1766948465
NM_000255.4(MMUT):c.*43G>T rs868855862
NM_000255.4(MMUT):c.*775A>G rs886061553
NM_000255.4(MMUT):c.-35G>T rs483352795
NM_000255.4(MMUT):c.1011T>A (p.Phe337Leu) rs1581831934
NM_000255.4(MMUT):c.1156C>A (p.His386Asn) rs1554159937
NM_000255.4(MMUT):c.1219A>T (p.Asn407Tyr) rs576536579
NM_000255.4(MMUT):c.1315T>G (p.Tyr439Asp) rs1581829908
NM_000255.4(MMUT):c.1415C>T (p.Ala472Val) rs747589392
NM_000255.4(MMUT):c.1421G>C (p.Arg474Pro) rs368746965
NM_000255.4(MMUT):c.1435A>G (p.Ile479Val) rs867154364
NM_000255.4(MMUT):c.1465G>A (p.Val489Ile) rs1767446166
NM_000255.4(MMUT):c.1515T>C (p.Ile505=) rs772936850
NM_000255.4(MMUT):c.1622C>T (p.Ala541Val)
NM_000255.4(MMUT):c.1670G>A (p.Arg557Gln) rs756389945
NM_000255.4(MMUT):c.1679G>A (p.Cys560Tyr) rs1238333040
NM_000255.4(MMUT):c.168A>G (p.Pro56=) rs1561959894
NM_000255.4(MMUT):c.1790T>G (p.Ile597Arg) rs1554158951
NM_000255.4(MMUT):c.1809G>T (p.Arg603Ser) rs756743196
NM_000255.4(MMUT):c.1844C>G (p.Pro615Arg) rs1554158777
NM_000255.4(MMUT):c.1850T>G (p.Leu617Arg) rs1554158775
NM_000255.4(MMUT):c.188C>T (p.Thr63Ile) rs1767776360
NM_000255.4(MMUT):c.1956+2T>C rs750619189
NM_000255.4(MMUT):c.2125-2A>G rs1561948924
NM_000255.4(MMUT):c.2180G>A (p.Arg727Gln)
NM_000255.4(MMUT):c.2196_2197insCGGCA (p.Val733fs) rs1766985866
NM_000255.4(MMUT):c.2213A>G (p.Asp738Gly) rs2127412055
NM_000255.4(MMUT):c.260G>A (p.Gly87Glu) rs1554160986
NM_000255.4(MMUT):c.404C>T (p.Ser135Leu)
NM_000255.4(MMUT):c.41A>T (p.His14Leu) rs886061561
NM_000255.4(MMUT):c.421G>A (p.Ala141Thr) rs1554160730
NM_000255.4(MMUT):c.572C>T (p.Ala191Val) rs760782399
NM_000255.4(MMUT):c.595T>G (p.Phe199Val) rs2127419986
NM_000255.4(MMUT):c.669_674dup (p.Glu224_Phe225insLeuGlu) rs1554160637
NM_000255.4(MMUT):c.733A>G (p.Ile245Val) rs754464973
NM_000255.4(MMUT):c.846A>G (p.Ala282=) rs1184586094
NM_000255.4(MMUT):c.876C>G (p.Leu292=) rs1767679459
NM_000255.4(MMUT):c.915_920del (p.Leu305_Ser306del) rs1561957516
NM_000255.4(MMUT):c.917C>T (p.Ser306Phe) rs1085307929
NM_000282.4(PCCA):c.-4A>C rs2046021682
NM_000282.4(PCCA):c.-5C>T rs886049926
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.1047A>T (p.Glu349Asp) rs2063431723
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.1102G>C (p.Asp368His) rs1555411121
NM_000282.4(PCCA):c.1105C>G (p.Leu369Val)
NM_000282.4(PCCA):c.1114G>A (p.Glu372Lys) rs1566896430
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.1162G>T (p.Asp388Tyr) rs2152684002
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>G (p.Ala395Gly)
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.120T>C (p.Tyr40=) rs2047399572
NM_000282.4(PCCA):c.1213C>G (p.Pro405Ala) rs772750102
NM_000282.4(PCCA):c.1214C>A (p.Pro405His) rs200874114
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.1285-1417T>C rs1232004179
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.1367G>A (p.Gly456Asp)
NM_000282.4(PCCA):c.136A>G (p.Met46Val) rs774158004
NM_000282.4(PCCA):c.1381G>A (p.Glu461Lys)
NM_000282.4(PCCA):c.1383G>A (p.Glu461=) rs2066768313
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.1418A>G (p.Tyr473Cys) rs2066770739
NM_000282.4(PCCA):c.1423A>T (p.Ile475Phe) rs35719359
NM_000282.4(PCCA):c.1427G>A (p.Arg476Gln)
NM_000282.4(PCCA):c.1428A>G (p.Arg476=)
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.15G>A (p.Trp5Ter) rs11539554
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+1_1643+2dup rs1555425626
NM_000282.4(PCCA):c.1643+6G>A
NM_000282.4(PCCA):c.1651G>A (p.Val551Ile) rs61749895
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.1760G>C (p.Gly587Ala) rs2079091617
NM_000282.4(PCCA):c.1792C>G (p.Leu598Val) rs2079093758
NM_000282.4(PCCA):c.1799C>T (p.Ser600Leu)
NM_000282.4(PCCA):c.1817G>C (p.Ser606Thr) rs2079095516
NM_000282.4(PCCA):c.1819G>A (p.Val607Ile)
NM_000282.4(PCCA):c.1819G>C (p.Val607Leu)
NM_000282.4(PCCA):c.1819G>T (p.Val607Phe) rs751083923
NM_000282.4(PCCA):c.1828A>G (p.Thr610Ala) rs749767976
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.1884G>A (p.Gln628=) rs552141237
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.1953G>A (p.Leu651=) rs765771203
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.2017G>C (p.Val673Leu) rs142646074
NM_000282.4(PCCA):c.2028G>T (p.Lys676Asn)
NM_000282.4(PCCA):c.2040+9TG[3] rs751014655
NM_000282.4(PCCA):c.2040G>A (p.Ala680=) rs369982920
NM_000282.4(PCCA):c.2062T>C (p.Cys688Arg) rs774949844
NM_000282.4(PCCA):c.2082A>T (p.Lys694Asn) rs2087964084
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.2126C>T (p.Ser709Phe)
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.2171T>A (p.Leu724His)
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.346C>G (p.Pro116Ala) rs1566594619
NM_000282.4(PCCA):c.370A>G (p.Met124Val) rs748802820
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.42C>T (p.Ala14=) rs200714802
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.551C>G (p.Ala184Gly) rs2059068868
NM_000282.4(PCCA):c.574A>G (p.Ile192Val)
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.615dup (p.Val206fs) rs1566767338
NM_000282.4(PCCA):c.633A>T (p.Glu211Asp)
NM_000282.4(PCCA):c.637+3A>G
NM_000282.4(PCCA):c.649A>G (p.Met217Val) rs372844772
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.652A>C (p.Ile218Leu) rs1012525921
NM_000282.4(PCCA):c.659C>A (p.Ala220Asp) rs1555396108
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.717-13_717-11del rs2152564870
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.764A>G (p.Asp255Gly) rs746776657
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.893A>C (p.Lys298Thr)
NM_000282.4(PCCA):c.895G>A (p.Val299Met) rs1188239325
NM_000282.4(PCCA):c.904G>C (p.Glu302Gln) rs775686458
NM_000282.4(PCCA):c.914+8T>A rs543352333
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>G (p.Ala310Gly) rs146927771
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_000282.4(PCCA):c.999G>A (p.Gly333=) rs2063427075
NM_000411.8(HLCS):c.-393+2558C>T
NM_000532.4(PCCB):c.-46A>T rs751837162
NM_000532.5(PCCB):c.*128_*132del rs886058021
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.1127G>T (p.Arg376Leu) rs142982097
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.1142G>A (p.Cys381Tyr) rs1024773388
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>A (p.Gly407Asp)
NM_000532.5(PCCB):c.1220G>T (p.Gly407Val)
NM_000532.5(PCCB):c.1221del (p.Ile408fs) rs1560033769
NM_000532.5(PCCB):c.1222ATC[1] (p.Ile409del)
NM_000532.5(PCCB):c.1226del (p.Ile409fs) rs1560033794
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.1313C>A (p.Ala438Asp)
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>A (p.Ala468Thr) rs775563122
NM_000532.5(PCCB):c.1402G>T (p.Ala468Ser)
NM_000532.5(PCCB):c.140T>G (p.Leu47Arg)
NM_000532.5(PCCB):c.1452A>G (p.Ala484=) rs781556055
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.1503del (p.Phe501fs) rs1553785139
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.1524TTC[1] (p.Ser510del) rs1553785152
NM_000532.5(PCCB):c.1531A>C (p.Thr511Pro)
NM_000532.5(PCCB):c.1555C>G (p.Leu519Val) rs1935481576
NM_000532.5(PCCB):c.1555_1557dup (p.Leu519dup) rs1553785169
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.1585C>T (p.Arg529Cys)
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.163A>T (p.Ile55Phe) rs561539546
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>A rs879253813
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.292_294del (p.Asp98del) rs1307067547
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.319G>A (p.Val107Met) rs1553774114
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.373-1243G>A rs1184391176
NM_000532.5(PCCB):c.373-1246G>A rs996480567
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.467T>C (p.Ile156Thr) rs1559998737
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.553del (p.Thr185fs) rs886058018
NM_000532.5(PCCB):c.554C>G (p.Thr185Arg) rs369612150
NM_000532.5(PCCB):c.555G>C (p.Thr185=) rs543691110
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>G (p.Pro199Arg) rs1313783374
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.611C>T (p.Ala204Val) rs760499581
NM_000532.5(PCCB):c.617A>G (p.Tyr206Cys) rs779033674
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.682C>G (p.Pro228Ala) rs1052979420
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.749A>G (p.His250Arg) rs1933813724
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.763+3GA[4] rs1553778916
NM_000532.5(PCCB):c.763G>A (p.Gly255Ser) rs1553778909
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.850G>A (p.Asp284Asn) rs777434061
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.884G>C (p.Ser295Thr) rs752029455
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.899C>T (p.Pro300Leu)
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.94G>A (p.Ala32Thr) rs751136139
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_001001563.5(TIMM50):c.44T>G (p.Leu15Arg)
NM_001001563.5(TIMM50):c.620G>T (p.Ser207Ile) rs2079507347
NM_001001563.5(TIMM50):c.671G>T (p.Arg224Ile) rs2079508089
NM_001017989.3(OPA3):c.221del (p.Gly74fs) rs779350552
NM_001017989.3(OPA3):c.232G>T (p.Glu78Ter) rs763348163
NM_001017989.3(OPA3):c.256G>T (p.Glu86Ter) rs780614894
NM_001017989.3(OPA3):c.268_270del (p.Phe90del) rs755084544
NM_001017989.3(OPA3):c.313C>T (p.Gln105Ter) rs1225701554
NM_001017989.3(OPA3):c.343C>T (p.Arg115Ter) rs762247018
NM_001017989.3(OPA3):c.380del (p.Gly127fs) rs1555730165
NM_001017989.3(OPA3):c.436C>T (p.Gln146Ter) rs1555730159
NM_001017989.3(OPA3):c.444_448del (p.Leu149fs) rs1599947088
NM_001017989.3(OPA3):c.445del (p.Leu149fs) rs780299639
NM_001017989.3(OPA3):c.448G>T (p.Glu150Ter) rs1555730157
NM_001017989.3(OPA3):c.464_467dup (p.Gln157fs) rs1599947052
NM_001017989.3(OPA3):c.535delinsAA (p.Glu179fs) rs1555730141
NM_001017989.3(OPA3):c.541T>C (p.Ter181Gln) rs1555730136
NM_001017989.3(OPA3):c.542A>G (p.Ter181Trp) rs375580763
NM_001017989.3(OPA3):c.542_543del (p.Lys180_Ter181insTer) rs1555730133
NM_001081.4(CUBN):c.*177C>G rs886046860
NM_001081.4(CUBN):c.*267A>T rs1203238498
NM_001081.4(CUBN):c.*304G>T rs2131292535
NM_001081.4(CUBN):c.*329C>G rs376727720
NM_001081.4(CUBN):c.*329C>T rs376727720
NM_001081.4(CUBN):c.*453A>G rs1838716540
NM_001081.4(CUBN):c.*460C>A rs1588559715
NM_001081.4(CUBN):c.*514T>G rs886046854
NM_001081.4(CUBN):c.*794A>G rs886046852
NM_001081.4(CUBN):c.*883G>A rs886046851
NM_001081.4(CUBN):c.10077G>C (p.Ser3359=) rs147563157
NM_001081.4(CUBN):c.10143C>G (p.Asn3381Lys) rs1839164438
NM_001081.4(CUBN):c.1036G>C (p.Val346Leu) rs886046879
NM_001081.4(CUBN):c.10466T>G (p.Phe3489Cys) rs886046863
NM_001081.4(CUBN):c.10728C>G (p.Asn3576Lys) rs368511477
NM_001081.4(CUBN):c.10729G>T (p.Ala3577Ser) rs139051724
NM_001081.4(CUBN):c.10742C>T (p.Ser3581Phe) rs2131299558
NM_001081.4(CUBN):c.10752A>T (p.Pro3584=) rs886046862
NM_001081.4(CUBN):c.10777G>A (p.Ala3593Thr) rs1838734881
NM_001081.4(CUBN):c.10846G>A (p.Ala3616Thr) rs564429505
NM_001081.4(CUBN):c.1405G>C (p.Val469Leu) rs780440368
NM_001081.4(CUBN):c.1837G>C (p.Gly613Arg) rs2131869531
NM_001081.4(CUBN):c.2110+10C>G rs752409034
NM_001081.4(CUBN):c.2110T>G (p.Ser704Ala) rs2131865310
NM_001081.4(CUBN):c.2151T>C (p.Gly717=) rs1836053318
NM_001081.4(CUBN):c.2446G>A (p.Ala816Thr)
NM_001081.4(CUBN):c.2447-15T>A rs886046877
NM_001081.4(CUBN):c.2673C>T (p.Cys891=) rs386833778
NM_001081.4(CUBN):c.2791G>A (p.Ala931Thr) rs1042319182
NM_001081.4(CUBN):c.2839G>T (p.Gly947Cys) rs2131844929
NM_001081.4(CUBN):c.3551C>G (p.Pro1184Arg) rs886046876
NM_001081.4(CUBN):c.3604G>A (p.Ala1202Thr) rs141740096
NM_001081.4(CUBN):c.3604G>T (p.Ala1202Ser) rs141740096
NM_001081.4(CUBN):c.3605C>T (p.Ala1202Val) rs1835097031
NM_001081.4(CUBN):c.3823C>T (p.Arg1275Trp) rs189294363
NM_001081.4(CUBN):c.3928A>G (p.Ile1310Val) rs1325181765
NM_001081.4(CUBN):c.3931C>T (p.Arg1311Trp) rs776683073
NM_001081.4(CUBN):c.4020C>G (p.Leu1340=) rs769326338
NM_001081.4(CUBN):c.4069C>G (p.Pro1357Ala) rs780012075
NM_001081.4(CUBN):c.409A>C (p.Ser137Arg) rs202053511
NM_001081.4(CUBN):c.4350+5G>A rs200324164
NM_001081.4(CUBN):c.4633A>C (p.Asn1545His) rs1391948790
NM_001081.4(CUBN):c.4720A>G (p.Met1574Val) rs1482983523
NM_001081.4(CUBN):c.489+14T>C rs886046882
NM_001081.4(CUBN):c.4934A>G (p.Gln1645Arg) rs1243565121
NM_001081.4(CUBN):c.5222C>A (p.Thr1741Lys) rs144943516
NM_001081.4(CUBN):c.5285T>G (p.Val1762Gly) rs149164899
NM_001081.4(CUBN):c.5302A>G (p.Ile1768Val) rs779378713
NM_001081.4(CUBN):c.5305G>C (p.Val1769Leu) rs74116778
NM_001081.4(CUBN):c.5343-11C>T rs777975604
NM_001081.4(CUBN):c.5343-6A>G rs776579478
NM_001081.4(CUBN):c.5569G>A (p.Val1857Met) rs886046873
NM_001081.4(CUBN):c.5580T>A (p.His1860Gln) rs980358703
NM_001081.4(CUBN):c.5597C>T (p.Pro1866Leu) rs376970710
NM_001081.4(CUBN):c.5840C>A (p.Ser1947Tyr) rs147617753
NM_001081.4(CUBN):c.5961A>G (p.Ala1987=) rs886046872
NM_001081.4(CUBN):c.5965G>A (p.Val1989Met) rs368951850
NM_001081.4(CUBN):c.6145C>A (p.Gln2049Lys) rs141319759
NM_001081.4(CUBN):c.6254A>G (p.Asn2085Ser) rs569527072
NM_001081.4(CUBN):c.6833A>G (p.Asn2278Ser) rs942411004
NM_001081.4(CUBN):c.7397C>G (p.Pro2466Arg) rs1184270888
NM_001081.4(CUBN):c.7406C>T (p.Pro2469Leu) rs202229367
NM_001081.4(CUBN):c.7586G>A (p.Ser2529Asn) rs886046868
NM_001081.4(CUBN):c.7798G>A (p.Glu2600Lys) rs766806038
NM_001081.4(CUBN):c.7816C>A (p.Pro2606Thr) rs886046867
NM_001081.4(CUBN):c.7916A>T (p.Asp2639Val) rs2131430542
NM_001081.4(CUBN):c.8219C>A (p.Thr2740Lys) rs2131420801
NM_001081.4(CUBN):c.8233G>A (p.Asp2745Asn) rs886046865
NM_001081.4(CUBN):c.8273C>T (p.Pro2758Leu) rs2131420669
NM_001081.4(CUBN):c.827C>T (p.Thr276Ile) rs886046881
NM_001081.4(CUBN):c.8578T>G (p.Cys2860Gly) rs138719573
NM_001081.4(CUBN):c.8831T>G (p.Met2944Arg) rs544783535
NM_001081.4(CUBN):c.8977A>G (p.Thr2993Ala) rs1408193576
NM_001081.4(CUBN):c.923A>C (p.Glu308Ala) rs886046880
NM_001081.4(CUBN):c.9397A>C (p.Lys3133Gln) rs1432636083
NM_001081.4(CUBN):c.9990A>C (p.Gln3330His) rs1839305562
NM_001195087.2(GGACT):c.*1774G>A rs41281124
NM_001195087.2(GGACT):c.*1873T>C rs2088307404
NM_001243279.3(ACSF3):c.-8T>A rs1210097201
NM_001243279.3(ACSF3):c.1016T>C (p.Val339Ala)
NM_001243279.3(ACSF3):c.1052T>C (p.Leu351Pro)
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.1145T>C (p.Leu382Pro) rs781134234
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.1292C>A (p.Ser431Tyr) rs1057520194
NM_001243279.3(ACSF3):c.1301G>C (p.Arg434Pro) rs137995833
NM_001243279.3(ACSF3):c.1367-464C>T rs2151560692
NM_001243279.3(ACSF3):c.1376T>C (p.Val459Ala)
NM_001243279.3(ACSF3):c.1385_1407delinsCGGAT (p.Lys462_Arg469delinsThrAsp)
NM_001243279.3(ACSF3):c.1402A>C (p.Ile468Leu)
NM_001243279.3(ACSF3):c.1406G>A (p.Arg469Gln) rs144681140
NM_001243279.3(ACSF3):c.1465G>T (p.Val489Leu) rs377596983
NM_001243279.3(ACSF3):c.1494C>G (p.Ser498Arg)
NM_001243279.3(ACSF3):c.149C>T (p.Ala50Val) rs1187720594
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.1673G>C (p.Arg558Pro) rs140328142
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.491G>A (p.Gly164Glu) rs747228733
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.628A>C (p.Lys210Gln) rs538548478
NM_001243279.3(ACSF3):c.638T>C (p.Leu213Pro)
NM_001243279.3(ACSF3):c.667-9C>T rs369865917
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.1427C>A (p.Ala476Glu) rs2135487981
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.1591C>T (p.Arg531Trp) rs1949512456
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>G (p.Tyr537Cys) 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.1666T>A (p.Phe556Ile) rs1949509947
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>A (p.Arg599Ser)
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.1870G>C (p.Glu624Gln) rs1949489503
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.506C>T (p.Thr169Ile)
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>G (p.Glu303Gly) rs144712077
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.*1614dup rs886057068
NM_001352514.2(HLCS):c.*1997G>A rs886057066
NM_001352514.2(HLCS):c.*2023G>A rs886057065
NM_001352514.2(HLCS):c.*2267G>T rs886057064
NM_001352514.2(HLCS):c.*2285G>A rs886057063
NM_001352514.2(HLCS):c.*2647T>A rs2089366675
NM_001352514.2(HLCS):c.*270dup rs886057074
NM_001352514.2(HLCS):c.*2952CT[1] rs886057061
NM_001352514.2(HLCS):c.*3050A>G rs2089352875
NM_001352514.2(HLCS):c.*305T>C rs2089455426
NM_001352514.2(HLCS):c.*3161G>T rs886057060
NM_001352514.2(HLCS):c.*3162T>A rs552016201
NM_001352514.2(HLCS):c.*3175A>G rs2089348881
NM_001352514.2(HLCS):c.*3226del rs35955622
NM_001352514.2(HLCS):c.*3226dup rs35955622
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.1148A>G (p.Tyr383Cys)
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>C (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>A (p.Arg512Lys) rs747688148
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.1668C>A (p.Ser556=) rs771923409
NM_001352514.2(HLCS):c.1685C>A (p.Ser562Tyr) rs770873445
NM_001352514.2(HLCS):c.1697C>G (p.Ser566Cys)
NM_001352514.2(HLCS):c.1721T>A (p.Val574Glu)
NM_001352514.2(HLCS):c.1741C>T (p.Pro581Ser)
NM_001352514.2(HLCS):c.1774G>A (p.Ala592Thr) rs987805504
NM_001352514.2(HLCS):c.1781C>T (p.Ser594Leu) rs973578825
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.1977G>A (p.Val659=) rs886057075
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.2418C>T (p.Val806=) rs759416272
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.2529G>A (p.Gln843=) rs767700692
NM_001352514.2(HLCS):c.2551G>A (p.Val851Ile)
NM_001352514.2(HLCS):c.2567del (p.Pro856fs) rs1555880930
NM_001352514.2(HLCS):c.2572G>A (p.Gly858Ser)
NM_001352514.2(HLCS):c.2581T>G (p.Phe861Val)
NM_001352514.2(HLCS):c.2587_2588del (p.Met863fs) rs1555880894
NM_001352514.2(HLCS):c.2600del (p.Leu867fs) rs761447836
NM_001352514.2(HLCS):c.2605C>T (p.Leu869Phe)
NM_001352514.2(HLCS):c.2611_2614del (p.Lys871fs) rs774356408
NM_001352514.2(HLCS):c.2614C>T (p.Arg872Trp)
NM_001352514.2(HLCS):c.2618G>A (p.Arg873Gln)
NM_001352514.2(HLCS):c.442A>C (p.Met148Leu) rs764841449
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.493+9C>A rs886057078
NM_001352514.2(HLCS):c.494-25TC[4] rs146532042
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.652G>A (p.Glu218Lys) rs2066934793
NM_001352514.2(HLCS):c.737A>G (p.Tyr246Cys) rs765150200
NM_001352514.2(HLCS):c.767G>T (p.Cys256Phe) rs2066926744
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.941A>C (p.Tyr314Ser) rs778638155
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.*159G>A rs530872564
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.-45A>T rs540641302
NM_001370658.1(BTD):c.-51G>T
NM_001370658.1(BTD):c.-58G>A rs1553646827
NM_001370658.1(BTD):c.-59T>C rs768258310
NM_001370658.1(BTD):c.-60A>G rs1553646820
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.1110TCC[1] (p.Pro372del)
NM_001370658.1(BTD):c.1114C>T (p.Pro372Ser) rs886058116
NM_001370658.1(BTD):c.1116_1118del (p.Thr373del) rs2065654912
NM_001370658.1(BTD):c.1135A>T (p.Met379Leu) rs1295528438
NM_001370658.1(BTD):c.113A>G (p.Tyr38Cys)
NM_001370658.1(BTD):c.1163T>C (p.Val388Ala) rs1553654038
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.1192T>C (p.Cys398Arg) rs397514408
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.1249C>G (p.Leu417Val) rs1553654107
NM_001370658.1(BTD):c.1264G>A (p.Val422Ile) rs776369447
NM_001370658.1(BTD):c.1268T>A (p.Phe423Tyr)
NM_001370658.1(BTD):c.1274G>A (p.Gly425Glu) rs397514402
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.1309G>T (p.Val437Leu) rs146600671
NM_001370658.1(BTD):c.1325G>A (p.Arg442Lys) rs2125505856
NM_001370658.1(BTD):c.1328G>A (p.Cys443Tyr) rs397514421
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.1427T>C (p.Phe476Ser) rs886058117
NM_001370658.1(BTD):c.1456C>A (p.Leu486Ile) rs774018881
NM_001370658.1(BTD):c.1459G>A (p.Glu487Lys)
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.1503del (p.Arg502fs) rs1163419871
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.185C>T (p.Ala62Val) rs397507171
NM_001370658.1(BTD):c.187_195del (p.Leu63_Leu65del) rs397514346
NM_001370658.1(BTD):c.188T>C (p.Leu63Ser) rs397514347
NM_001370658.1(BTD):c.195C>T (p.Leu65=) rs2125454784
NM_001370658.1(BTD):c.239C>T (p.Ala80Val) rs1553652171
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.304A>G (p.Arg102Gly) rs397514354
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.41_44del (p.Gly14fs) rs1249246307
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.498C>G (p.Cys166Trp) rs2125500615
NM_001370658.1(BTD):c.506A>G (p.Asp169Gly) rs139829181
NM_001370658.1(BTD):c.522C>G (p.Phe174Leu) rs750363004
NM_001370658.1(BTD):c.545A>T (p.Asn182Ile) rs397514376
NM_001370658.1(BTD):c.550G>A (p.Gly184Arg)
NM_001370658.1(BTD):c.557T>G (p.Leu186Arg)
NM_001370658.1(BTD):c.557TTG[1] (p.Val187del) rs1553653699
NM_001370658.1(BTD):c.719A>C (p.Asp240Ala)
NM_001370658.1(BTD):c.721_723del (p.Tyr241del) rs1553653835
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.773T>C (p.Leu258Pro) rs397514389
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.806C>T (p.Ala269Val) rs1057520533
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.862A>C (p.Met288Leu) rs757604137
NM_001370658.1(BTD):c.874G>A (p.Gly292Ser) rs397514396
NM_001370658.1(BTD):c.881A>G (p.His294Arg) rs1553653888
NM_001370658.1(BTD):c.886C>A (p.Pro296Thr) rs1553653894
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_001609.3(ACADSB):c.-102G>C rs886046775
NM_001609.3(ACADSB):c.-109A>T rs1283333224
NM_001609.3(ACADSB):c.-28G>T rs895185970
NM_001609.4(ACADSB):c.*1195C>A rs886046787
NM_001609.4(ACADSB):c.*1380G>A rs1850689161
NM_001609.4(ACADSB):c.*1543G>T rs886046789
NM_001609.4(ACADSB):c.*1552A>G rs1850691633
NM_001609.4(ACADSB):c.*1682T>C rs886046790
NM_001609.4(ACADSB):c.*1840T>G rs886046792
NM_001609.4(ACADSB):c.*195G>A rs552789169
NM_001609.4(ACADSB):c.*2224A>C rs192771453
NM_001609.4(ACADSB):c.*2329A>G rs543916865
NM_001609.4(ACADSB):c.*2339G>A rs886046796
NM_001609.4(ACADSB):c.*2686G>C rs886046797
NM_001609.4(ACADSB):c.*2922G>A rs184574685
NM_001609.4(ACADSB):c.*2950A>G rs886046798
NM_001609.4(ACADSB):c.*3178A>C rs185809458
NM_001609.4(ACADSB):c.*3340G>C rs886046799
NM_001609.4(ACADSB):c.*3483T>G rs886046801
NM_001609.4(ACADSB):c.*3911A>G rs1589748503
NM_001609.4(ACADSB):c.*3918G>A rs886046803
NM_001609.4(ACADSB):c.*3993T>A rs886046805
NM_001609.4(ACADSB):c.*4324G>T rs868646540
NM_001609.4(ACADSB):c.*808G>A rs41299169
NM_001609.4(ACADSB):c.-19G>C rs750986257
NM_001609.4(ACADSB):c.1014C>G (p.His338Gln) rs57339164
NM_001609.4(ACADSB):c.1033G>A (p.Ala345Thr)
NM_001609.4(ACADSB):c.1062T>C (p.Ala354=) rs886046780
NM_001609.4(ACADSB):c.1106T>A (p.Met369Lys)
NM_001609.4(ACADSB):c.1128+2_1128+3insTA rs1554874107
NM_001609.4(ACADSB):c.1128+2_1128+4del rs1564754575
NM_001609.4(ACADSB):c.1128+3A>G rs760423996
NM_001609.4(ACADSB):c.1135G>A (p.Gly379Arg)
NM_001609.4(ACADSB):c.1170G>T (p.Gly390=) rs886046781
NM_001609.4(ACADSB):c.1178G>T (p.Gly393Val)
NM_001609.4(ACADSB):c.1214G>A (p.Arg405Gln)
NM_001609.4(ACADSB):c.1219G>A (p.Ala407Thr) rs777906899
NM_001609.4(ACADSB):c.1228+21del rs11307362
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.202+3A>C
NM_001609.4(ACADSB):c.20G>T (p.Arg7Leu) rs1179957829
NM_001609.4(ACADSB):c.232C>A (p.Pro78Thr)
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.429C>T (p.Asn143=) rs886046777
NM_001609.4(ACADSB):c.42G>A (p.Leu14=) rs745863047
NM_001609.4(ACADSB):c.42G>T (p.Leu14=) rs745863047
NM_001609.4(ACADSB):c.436A>T (p.Ile146Phe)
NM_001609.4(ACADSB):c.496C>G (p.Leu166Val) rs186081101
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.640G>T (p.Ala214Ser) rs145529589
NM_001609.4(ACADSB):c.682-7T>C rs886046779
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_001698.2(AUH):c.-30C>G rs1057515677
NM_001698.3(AUH):c.*175G>A rs1826691653
NM_001698.3(AUH):c.*259_*262del rs377176126
NM_001698.3(AUH):c.*60G>A rs1564001076
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.1A>G (p.Met1Val)
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>A (p.Gly140Asp) rs1829899485
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.44T>A (p.Leu15Gln) rs757419657
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.951A>T (p.Pro317=) rs530710210
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.*1213A>T rs886051133
NM_002225.5(IVD):c.*1245C>T rs974616361
NM_002225.5(IVD):c.*1898G>A rs886051134
NM_002225.5(IVD):c.*1944C>T rs910131258
NM_002225.5(IVD):c.*1984G>C rs969539454
NM_002225.5(IVD):c.*2125A>C rs1048450160
NM_002225.5(IVD):c.*2302G>A rs886051136
NM_002225.5(IVD):c.*2389C>T rs1892216503
NM_002225.5(IVD):c.*2494C>G rs781683880
NM_002225.5(IVD):c.*2494C>T rs781683880
NM_002225.5(IVD):c.*2883T>A rs181699798
NM_002225.5(IVD):c.*2960C>T rs926243484
NM_002225.5(IVD):c.*3036A>C rs913379191
NM_002225.5(IVD):c.*566A>G rs549510775
NM_002225.5(IVD):c.*568A>T rs1891996350
NM_002225.5(IVD):c.*787T>C rs1892021365
NM_002225.5(IVD):c.*809G>A rs886051131
NM_002225.5(IVD):c.*822G>T rs373923824
NM_002225.5(IVD):c.-8T>G rs566691073
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.1165C>A (p.Pro389Thr)
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.137A>G (p.Gln46Arg) rs1890355492
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.272G>A (p.Gly91Asp) rs1555403365
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.438A>G (p.Lys146=) rs1007239169
NM_002225.5(IVD):c.452C>G (p.Pro151Arg)
NM_002225.5(IVD):c.457-2A>G rs771914739
NM_002225.5(IVD):c.457-3C>T
NM_002225.5(IVD):c.464GTG[3] (p.Gly156dup) rs796051982
NM_002225.5(IVD):c.467G>C (p.Gly156Ala) rs1221254988
NM_002225.5(IVD):c.48G>C (p.Arg16Ser)
NM_002225.5(IVD):c.492G>A (p.Met164Ile)
NM_002225.5(IVD):c.516TGT[1] (p.Val174del) rs1566936030
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.607G>C (p.Asp203His) rs2141331313
NM_002225.5(IVD):c.60G>T (p.Pro20=) rs1482549847
NM_002225.5(IVD):c.618del (p.Ile206fs) rs781630355
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.712AAG[1] (p.Lys239del) rs1555404430
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.813G>A (p.Lys271=) rs767825575
NM_002225.5(IVD):c.817G>A (p.Val273Ile)
NM_002225.5(IVD):c.821A>G (p.Tyr274Cys)
NM_002225.5(IVD):c.823G>A (p.Val275Met) rs757832700
NM_002225.5(IVD):c.823G>C (p.Val275Leu) rs757832700
NM_002225.5(IVD):c.841G>A (p.Asp281Asn)
NM_002225.5(IVD):c.848A>G (p.Glu283Gly) rs1314850102
NM_002225.5(IVD):c.850C>T (p.Arg284Trp)
NM_002225.5(IVD):c.853C>G (p.Leu285Val)
NM_002225.5(IVD):c.856G>A (p.Val286Met)
NM_002225.5(IVD):c.865G>T (p.Gly289Trp) rs568885234
NM_002225.5(IVD):c.870G>T (p.Gly290=) rs1285915480
NM_002225.5(IVD):c.875T>C (p.Leu292Pro) rs1555404843
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_002225.5(IVD):c.995G>T (p.Arg332Leu) rs745464766
NM_004208.4(AIFM1):c.1084A>C (p.Lys362Gln)
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.1316C>T (p.Thr439Met) rs200761248
NM_005050.4(ABCD4):c.131T>A (p.Leu44Gln)
NM_005050.4(ABCD4):c.1324C>T (p.Arg442Trp)
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.714C>G (p.Phe238Leu)
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.1030C>T (p.Arg344Cys) rs2065417308
NM_005334.3(HCFC1):c.1031G>A (p.Arg344His) rs2148589382
NM_005334.3(HCFC1):c.1133A>G (p.Asn378Ser)
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.1355C>T (p.Ala452Val) rs868948937
NM_005334.3(HCFC1):c.1427C>T (p.Thr476Ile) rs782364666
NM_005334.3(HCFC1):c.1697C>T (p.Thr566Met) rs1557115869
NM_005334.3(HCFC1):c.1763C>A (p.Thr588Asn)
NM_005334.3(HCFC1):c.1790C>T (p.Ser597Phe)
NM_005334.3(HCFC1):c.1888C>T (p.Arg630Cys)
NM_005334.3(HCFC1):c.2028+6T>C
NM_005334.3(HCFC1):c.218C>T (p.Ala73Val) rs397515486
NM_005334.3(HCFC1):c.2231C>T (p.Ala744Val) rs2065388763
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.2376C>G (p.Ile792Met)
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.2972C>G (p.Thr991Ser)
NM_005334.3(HCFC1):c.3233C>T (p.Pro1078Leu)
NM_005334.3(HCFC1):c.3257G>A (p.Gly1086Asp) rs2065362050
NM_005334.3(HCFC1):c.3260C>G (p.Thr1087Ser)
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.3506G>A (p.Arg1169His)
NM_005334.3(HCFC1):c.3584C>T (p.Pro1195Leu)
NM_005334.3(HCFC1):c.3602C>G (p.Pro1201Arg)
NM_005334.3(HCFC1):c.3674T>C (p.Ile1225Thr) rs2065355018
NM_005334.3(HCFC1):c.3689C>T (p.Ala1230Val)
NM_005334.3(HCFC1):c.3707C>T (p.Ala1236Val)
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.3980C>T (p.Thr1327Met)
NM_005334.3(HCFC1):c.3995C>T (p.Thr1332Met)
NM_005334.3(HCFC1):c.4006G>A (p.Ala1336Thr)
NM_005334.3(HCFC1):c.4063C>T (p.Arg1355Cys)
NM_005334.3(HCFC1):c.4064G>A (p.Arg1355His)
NM_005334.3(HCFC1):c.4148C>T (p.Ser1383Phe)
NM_005334.3(HCFC1):c.4210G>C (p.Gly1404Arg) rs2148569217
NM_005334.3(HCFC1):c.4291C>T (p.His1431Tyr) rs2065343736
NM_005334.3(HCFC1):c.4410T>A (p.Ser1470Arg)
NM_005334.3(HCFC1):c.4423A>G (p.Thr1475Ala) rs2065338418
NM_005334.3(HCFC1):c.4475C>T (p.Pro1492Leu)
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.4576G>A (p.Ala1526Thr) rs782652831
NM_005334.3(HCFC1):c.4619C>G (p.Thr1540Ser)
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.5053G>A (p.Val1685Met) rs2065317868
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.5244C>T (p.Pro1748=)
NM_005334.3(HCFC1):c.5276A>C (p.Asn1759Thr) rs782384589
NM_005334.3(HCFC1):c.5302G>A (p.Val1768Met)
NM_005334.3(HCFC1):c.5305G>A (p.Val1769Met)
NM_005334.3(HCFC1):c.5468T>C (p.Val1823Ala) rs2065309711
NM_005334.3(HCFC1):c.5698A>G (p.Ser1900Gly) rs2065303644
NM_005334.3(HCFC1):c.5782G>A (p.Ala1928Thr)
NM_005334.3(HCFC1):c.6029C>G (p.Thr2010Ser)
NM_005334.3(HCFC1):c.6069G>T (p.Met2023Ile) rs2148553327
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.790G>A (p.Gly264Arg)
NM_005334.3(HCFC1):c.80G>A (p.Gly27Asp)
NM_005334.3(HCFC1):c.932T>C (p.Met311Thr)
NM_005334.3(HCFC1):c.939A>G (p.Thr313=)
NM_013247.5(HTRA2):c.146G>C (p.Arg49Pro) rs1675478353
NM_013247.5(HTRA2):c.739C>T (p.Arg247Cys) rs763567914
NM_013247.5(HTRA2):c.755G>A (p.Arg252Gln)
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.182C>T (p.Thr61Ile) rs1575757363
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.311C>T (p.Ser104Leu)
NM_014362.4(HIBCH):c.324G>T (p.Lys108Asn)
NM_014362.4(HIBCH):c.35G>A (p.Arg12Lys)
NM_014362.4(HIBCH):c.410C>T (p.Ala137Val) rs1114167288
NM_014362.4(HIBCH):c.438+4A>G
NM_014362.4(HIBCH):c.439-2A>G rs1180861300
NM_014362.4(HIBCH):c.4G>A (p.Gly2Arg) rs1341440380
NM_014362.4(HIBCH):c.529G>C (p.Asp177His) rs1315908015
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.763C>G (p.Arg255Gly) rs1248460683
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.958A>G (p.Lys320Glu)
NM_014362.4(HIBCH):c.974T>G (p.Val325Gly) rs751484433
NM_014384.3(ACAD8):c.*306C>T rs886048027
NM_014384.3(ACAD8):c.*441C>G rs886048028
NM_014384.3(ACAD8):c.*634T>C rs1940131247
NM_014384.3(ACAD8):c.*69G>T rs371730378
NM_014384.3(ACAD8):c.*874C>G rs756666725
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.381-4T>A rs886048023
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.432A>G (p.Lys144=) rs886048024
NM_014384.3(ACAD8):c.453C>T (p.Thr151=) rs1939688110
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.687T>G (p.Phe229Leu)
NM_014384.3(ACAD8):c.730C>G (p.Arg244Gly)
NM_014384.3(ACAD8):c.763G>A (p.Val255Met) rs899220061
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.833T>C (p.Ile278Thr) rs1317315596
NM_014384.3(ACAD8):c.841+15G>A rs770612690
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.*5C>G rs557994288
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.277-8_277-3dup rs756072947
NM_015506.3(MMACHC):c.286G>A (p.Glu96Lys)
NM_015506.3(MMACHC):c.311A>T (p.Asp104Val) rs1553162829
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.327_329delinsATTGCTGACTAC (p.Asn110delinsLeuLeuThrThr) rs2149323547
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.356C>G (p.Thr119Arg) rs1006520706
NM_015506.3(MMACHC):c.358G>T (p.Ala120Ser)
NM_015506.3(MMACHC):c.373_381del (p.Gly125_Ala127del) rs1553162848
NM_015506.3(MMACHC):c.385T>C (p.Tyr129His)
NM_015506.3(MMACHC):c.392_394del (p.Gln131del) rs779234540
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.395_397del (p.Arg132del) rs1455190457
NM_015506.3(MMACHC):c.433A>G (p.Ile145Val) rs74365027
NM_015506.3(MMACHC):c.436_450del (p.Ser146_Ile150del) rs747550590
NM_015506.3(MMACHC):c.445_446del (p.Cys149fs) rs796051999
NM_015506.3(MMACHC):c.460T>C (p.Phe154Leu)
NM_015506.3(MMACHC):c.467G>A (p.Gly156Asp) rs1553162910
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.491TGC[2] (p.Leu166del) rs1249948465
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.52C>T (p.Pro18Ser)
NM_015506.3(MMACHC):c.544T>C (p.Cys182Arg) rs955468279
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.561_572del (p.Asp188_Ala191del) rs1553162937
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.617G>C (p.Arg206Pro) rs371753672
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.643T>C (p.Tyr215His) rs755843695
NM_015506.3(MMACHC):c.649G>A (p.Glu217Lys) rs483352740
NM_015506.3(MMACHC):c.650A>G (p.Glu217Gly) rs199641732
NM_015506.3(MMACHC):c.701T>C (p.Leu234Ser)
NM_015506.3(MMACHC):c.701del (p.Leu234fs) rs767339897
NM_015506.3(MMACHC):c.717_728del (p.Glu241_Ser244del)
NM_015506.3(MMACHC):c.720dup (p.Glu241fs)
NM_015506.3(MMACHC):c.728del (p.Pro243fs) rs1409915649
NM_015506.3(MMACHC):c.743C>G (p.Pro248Arg) rs564280688
NM_015506.3(MMACHC):c.743C>T (p.Pro248Leu)
NM_015506.3(MMACHC):c.745dup (p.Asp249fs) rs1553162993
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.766_771del (p.Ala256_Pro257del) rs796064513
NM_015506.3(MMACHC):c.771dup (p.Lys258fs) rs763886783
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.799dup (p.Arg267fs) rs1553163005
NM_015506.3(MMACHC):c.82-11_82-8del rs751236442
NM_015506.3(MMACHC):c.829C>T (p.Pro277Ser)
NM_015506.3(MMACHC):c.839del (p.Pro280fs) rs1553163017
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_015506.3(MMACHC):c.848G>T (p.Ter283Leu) rs201025783
NM_015506.3(MMACHC):c.848_*2del (p.Ter283PheextTer?) rs1553163021
NM_015506.3(MMACHC):c.848del (p.Ter283TyrextTer?) rs1553163024
NM_015506.3(MMACHC):c.849del (p.Ter283CysextTer?) rs1553163027
NM_015702.3(MMADHC):c.-136G>C rs1682898571
NM_015702.3(MMADHC):c.-52-3C>G rs886054922
NM_015702.3(MMADHC):c.-62G>A rs886054924
NM_015702.3(MMADHC):c.10-3T>C rs886054921
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.166G>A (p.Val56Met) rs1682767724
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.607A>G (p.Lys203Glu) rs1553453961
NM_015702.3(MMADHC):c.609+6T>C rs1682704400
NM_015702.3(MMADHC):c.699T>C (p.Phe233=) rs1682618008
NM_015702.3(MMADHC):c.724C>G (p.Leu242Val)
NM_015702.3(MMADHC):c.735T>G (p.Thr245=) rs530553915
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.759A>T (p.Gly253=) rs886054920
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_015702.3(MMADHC):c.869T>G (p.Met290Arg) rs1401528755
NM_018368.4(LMBRD1):c.*220G>T rs1765534415
NM_018368.4(LMBRD1):c.*77G>T rs886061690
NM_018368.4(LMBRD1):c.-57T>C rs886061693
NM_018368.4(LMBRD1):c.100C>G (p.Arg34Gly) rs773844453
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.1538G>A (p.Cys513Tyr)
NM_018368.4(LMBRD1):c.156T>G (p.Phe52Leu)
NM_018368.4(LMBRD1):c.1577A>G (p.Glu526Gly) rs761378514
NM_018368.4(LMBRD1):c.160C>G (p.Leu54Val) rs1402538766
NM_018368.4(LMBRD1):c.1611C>G (p.Val537=) rs534280770
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.323T>C (p.Ile108Thr)
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.582A>G (p.Ser194=) rs1387756161
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.78G>C (p.Leu26Phe)
NM_018368.4(LMBRD1):c.800G>A (p.Arg267His)
NM_018368.4(LMBRD1):c.88T>C (p.Trp30Arg) rs1582168492
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.981-14G>T rs1324981458
NM_018368.4(LMBRD1):c.989A>C (p.Lys330Thr) rs766881860
NM_020166.4(MCCC1):c.-101C>T rs886058210
NM_020166.4(MCCC1):c.-102C>A rs543130921
NM_020166.4(MCCC1):c.-132C>T rs529095789
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.1315G>T (p.Val439Leu) rs398124352
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.1427A>T (p.His476Leu) rs1560219876
NM_020166.5(MCCC1):c.1444G>A (p.Gly482Arg) rs1290771044
NM_020166.5(MCCC1):c.1450G>C (p.Val484Leu)
NM_020166.5(MCCC1):c.1475A>G (p.His492Arg) rs1713701795
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.1554G>A (p.Lys518=) rs563586657
NM_020166.5(MCCC1):c.1570G>A (p.Asp524Asn) rs200031275
NM_020166.5(MCCC1):c.1580C>T (p.Thr527Ile)
NM_020166.5(MCCC1):c.1582C>T (p.Leu528Phe)
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.1724G>A (p.Ser575Asn) rs886058206
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.197G>A (p.Arg66His) rs569042803
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.2050-6_2050-5del rs780558586
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.223A>G (p.Thr75Ala)
NM_020166.5(MCCC1):c.231G>A (p.Ala77=) rs144230304
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.300C>G (p.Pro100=) rs747409426
NM_020166.5(MCCC1):c.301G>A (p.Ala101Thr)
NM_020166.5(MCCC1):c.310C>A (p.Gln104Lys) rs1177891822
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.362C>T (p.Ala121Val) rs1367329678
NM_020166.5(MCCC1):c.365C>T (p.Ala122Val)
NM_020166.5(MCCC1):c.370-16T>G rs1716772551
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.453C>T (p.Gly151=) rs1716764203
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.503C>A (p.Ser168Tyr) rs2108526676
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.640_641delGG rs886058209
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.729T>C (p.Ala243=) rs886058208
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.768A>G (p.Val256=) rs567236851
NM_020166.5(MCCC1):c.794A>G (p.His265Arg) rs759707763
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.918A>C (p.Ala306=) rs1715030459
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_020166.5(MCCC1):c.994T>G (p.Cys332Gly) rs886058207
NM_022132.4(MCCC2):c.1367_1368inv (p.Ala456Val)
NM_022132.5(MCCC2):c.*1591A>C rs1388895100
NM_022132.5(MCCC2):c.*1650G>A rs902451036
NM_022132.5(MCCC2):c.*16T>A rs1747596046
NM_022132.5(MCCC2):c.*246A>G rs965261367
NM_022132.5(MCCC2):c.*700G>T rs972036465
NM_022132.5(MCCC2):c.*843A>C rs1747622599
NM_022132.5(MCCC2):c.*940C>G rs886060746
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.1073-27T>C
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.1196T>A (p.Leu399Gln) rs2112463776
NM_022132.5(MCCC2):c.1225G>A (p.Val409Ile) rs1373747202
NM_022132.5(MCCC2):c.122T>G (p.Leu41Arg)
NM_022132.5(MCCC2):c.1235A>C (p.Glu412Ala) rs371587906
NM_022132.5(MCCC2):c.1235A>G (p.Glu412Gly) 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.1407dup (p.Ile470fs) rs1561848250
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.1501G>A (p.Asp501Asn) rs1391085331
NM_022132.5(MCCC2):c.152C>T (p.Ala51Val)
NM_022132.5(MCCC2):c.1553A>G (p.Asn518Ser) rs1747471598
NM_022132.5(MCCC2):c.1554C>A (p.Asn518Lys) rs2112472855
NM_022132.5(MCCC2):c.1559A>C (p.Tyr520Ser) rs150327768
NM_022132.5(MCCC2):c.1565C>T (p.Ser522Phe) rs1747472048
NM_022132.5(MCCC2):c.1567A>G (p.Ser523Gly) rs1459143051
NM_022132.5(MCCC2):c.1570G>A (p.Ala524Thr)
NM_022132.5(MCCC2):c.1570G>C (p.Ala524Pro) rs774241918
NM_022132.5(MCCC2):c.1572A>T (p.Ala524=) rs886060738
NM_022132.5(MCCC2):c.1574+3G>T
NM_022132.5(MCCC2):c.1574+5G>T rs781483923
NM_022132.5(MCCC2):c.1583A>G (p.Asp528Gly) rs1747591661
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.1635dup (p.Ser546Ter) rs768272570
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.176G>A (p.Arg59Gln)
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.281+5G>T
NM_022132.5(MCCC2):c.284C>T (p.Ser95Phe)
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.383+4A>G rs1745349543
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>C (p.Tyr145His) rs1745481314
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.438C>T (p.Tyr146=) rs1745482068
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.625-11T>C
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.72C>G (p.His24Gln) rs374686220
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.848C>T (p.Ala283Val)
NM_022132.5(MCCC2):c.903+4A>T
NM_022132.5(MCCC2):c.914A>G (p.Glu305Gly) rs757389984
NM_022132.5(MCCC2):c.940G>A (p.Ala314Thr) rs2112438294
NM_022132.5(MCCC2):c.955G>A (p.Gly319Arg) rs1443551700
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_025136.3(OPA3):c.-48_-41delCGCCCCGC rs886054542
NM_025136.4(OPA3):c.*1076A>G rs886054533
NM_025136.4(OPA3):c.*1254A>C rs886054532
NM_025136.4(OPA3):c.*1478A>G rs886054531
NM_025136.4(OPA3):c.*1761A>T rs141446737
NM_025136.4(OPA3):c.*2188G>A rs1969330324
NM_025136.4(OPA3):c.*2198C>T rs1969330113
NM_025136.4(OPA3):c.*2590G>T rs886054527
NM_025136.4(OPA3):c.*2662G>A rs1969322157
NM_025136.4(OPA3):c.*2702G>T rs886054526
NM_025136.4(OPA3):c.*2726G>C rs993813343
NM_025136.4(OPA3):c.*2859A>T rs534780094
NM_025136.4(OPA3):c.*2896G>A rs190488484
NM_025136.4(OPA3):c.*2964T>C rs1969317127
NM_025136.4(OPA3):c.*302C>T rs886054540
NM_025136.4(OPA3):c.*3156G>T rs1969314043
NM_025136.4(OPA3):c.*3245C>T rs1969312880
NM_025136.4(OPA3):c.*324GT[1] rs571672143
NM_025136.4(OPA3):c.*3295C>G rs1969311980
NM_025136.4(OPA3):c.*3358C>G rs965480314
NM_025136.4(OPA3):c.*3496C>G rs749084024
NM_025136.4(OPA3):c.*3570C>T rs1969307390
NM_025136.4(OPA3):c.*3669G>T rs1024454874
NM_025136.4(OPA3):c.*3804G>A rs890552307
NM_025136.4(OPA3):c.*4026del rs879119658
NM_025136.4(OPA3):c.*4026dup rs879119658
NM_025136.4(OPA3):c.*4241C>T rs375276027
NM_025136.4(OPA3):c.*4419C>T rs886054523
NM_025136.4(OPA3):c.*4696ATAA[6] rs58537694
NM_025136.4(OPA3):c.*4696ATAA[8] rs58537694
NM_025136.4(OPA3):c.*4696ATAA[9] rs58537694
NM_025136.4(OPA3):c.*4712del rs886054518
NM_025136.4(OPA3):c.*4771C>G rs972332094
NM_025136.4(OPA3):c.*4862_*4865del rs886054515
NM_025136.4(OPA3):c.*4969C>G rs886054513
NM_025136.4(OPA3):c.*4975C>T rs567309052
NM_025136.4(OPA3):c.*50_*52del rs886054541
NM_025136.4(OPA3):c.*545G>T rs886054538
NM_025136.4(OPA3):c.*5774G>C rs886054510
NM_025136.4(OPA3):c.*5774G>T rs886054510
NM_025136.4(OPA3):c.*6289A>G rs182293743
NM_025136.4(OPA3):c.*6766C>T rs978118927
NM_025136.4(OPA3):c.*690G>T rs1969355536
NM_025136.4(OPA3):c.*7096_*7100del rs565521231
NM_025136.4(OPA3):c.*713C>G rs143735864
NM_025136.4(OPA3):c.*986dup rs377547137
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.142+5G>C rs1250409781
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.248_251dup (p.Gly85fs) rs1555732942
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.2TGG[2] (p.Val3del) rs1555736840
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.331_333del (p.Lys111del) rs1353357190
NM_025136.4(OPA3):c.334del (p.Glu112fs) rs1555732911
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.419_424dup (p.Val140_Gln141dup) rs1363616568
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.431del (p.Pro144fs) rs1205708262
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.470_478del (p.Gln157_Val159del) rs745544229
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.1577G>A (p.Gly526Glu) rs1554261079
NM_032861.4(SERAC1):c.1628C>T (p.Ser543Phe)
NM_032861.4(SERAC1):c.1693_1694dup (p.Leu566fs)
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+1927G>C
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.92-13_92-10del rs779302645
NM_032861.4(SERAC1):c.92-14_92-10del
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_032861.4(SERAC1):c.98TAA[1] (p.Ile34del) rs754630732
NM_052845.4(MMAB):c.*1121C>T rs562046988
NM_052845.4(MMAB):c.*1400G>A rs1883946986
NM_052845.4(MMAB):c.*2150A>G rs781473185
NM_052845.4(MMAB):c.*2326C>G rs1210681751
NM_052845.4(MMAB):c.*2392C>T rs1883900272
NM_052845.4(MMAB):c.*2736G>C rs747163137
NM_052845.4(MMAB):c.*3027T>C rs1883879729
NM_052845.4(MMAB):c.*3152A>T rs886048915
NM_052845.4(MMAB):c.*3260G>A rs1883871954
NM_052845.4(MMAB):c.*3296G>A rs777939885
NM_052845.4(MMAB):c.*348T>G rs1883987573
NM_052845.4(MMAB):c.*422T>C rs1883979155
NM_052845.4(MMAB):c.*710C>T rs538702791
NM_052845.4(MMAB):c.-11C>G rs1228106972
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.378G>A (p.Ser126=) rs749452007
NM_052845.4(MMAB):c.388_411del (p.Thr130_Glu137del) rs1555274650
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.556C>G (p.Arg186Gly)
NM_052845.4(MMAB):c.557G>A (p.Arg186Gln) rs773059864
NM_052845.4(MMAB):c.563_577del (p.Val188_Ala192del) rs1555274496
NM_052845.4(MMAB):c.569G>T (p.Arg190Leu)
NM_052845.4(MMAB):c.576C>T (p.Ala192=) rs757562796
NM_052845.4(MMAB):c.57C>T (p.Arg19=) rs10774774
NM_052845.4(MMAB):c.593C>T (p.Pro198Leu) rs886048927
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_052845.4(MMAB):c.7G>A (p.Val3Met) rs1884748119
NM_052845.4(MMAB):c.88C>T (p.Pro30Ser)
NM_145261.4(DNAJC19):c.*190ATTA[1] rs886058203
NM_145261.4(DNAJC19):c.*528GT[9] rs148074891
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.229A>G (p.Lys77Glu)
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.62A>T (p.Tyr21Phe) rs752913622
NM_145261.4(DNAJC19):c.64G>A (p.Val22Ile)
NM_145261.4(DNAJC19):c.73G>A (p.Ala25Thr) rs2108509645
NM_172250.3(MMAA):c.*1149C>G rs999175069
NM_172250.3(MMAA):c.*1221A>G rs1728241243
NM_172250.3(MMAA):c.*1510C>T rs1045440002
NM_172250.3(MMAA):c.*1558C>G rs998811243
NM_172250.3(MMAA):c.*190C>T rs1728208709
NM_172250.3(MMAA):c.*1924T>C rs886059100
NM_172250.3(MMAA):c.*2343A>G rs886059103
NM_172250.3(MMAA):c.*2445A>C rs886059105
NM_172250.3(MMAA):c.*2448T>C rs914268952
NM_172250.3(MMAA):c.*2479G>T rs886059107
NM_172250.3(MMAA):c.*2646G>A rs999780084
NM_172250.3(MMAA):c.*3125C>T rs886059111
NM_172250.3(MMAA):c.*3213C>T rs1317371212
NM_172250.3(MMAA):c.*3385C>T rs1296968983
NM_172250.3(MMAA):c.*3797A>G rs1578891934
NM_172250.3(MMAA):c.*3880G>A rs1728325081
NM_172250.3(MMAA):c.*3934C>G rs753155141
NM_172250.3(MMAA):c.*4044T>C rs556788892
NM_172250.3(MMAA):c.*4200G>T rs1346413343
NM_172250.3(MMAA):c.*581G>T rs936007824
NM_172250.3(MMAA):c.*611A>C rs1728220748
NM_172250.3(MMAA):c.*661C>T rs1728222063
NM_172250.3(MMAA):c.*703C>T rs548243828
NM_172250.3(MMAA):c.-68C>A rs886059087
NM_172250.3(MMAA):c.-68C>T rs886059087
NM_172250.3(MMAA):c.1000G>A (p.Gly334Arg) rs758394680
NM_172250.3(MMAA):c.1037A>G (p.Gln346Arg)
NM_172250.3(MMAA):c.1044A>C (p.Leu348=) rs754630744
NM_172250.3(MMAA):c.1048C>T (p.Leu350Phe) rs866580843
NM_172250.3(MMAA):c.1060_1065del (p.Glu354_Leu355del) rs1553959122
NM_172250.3(MMAA):c.1075C>G (p.Arg359Gly) rs999844958
NM_172250.3(MMAA):c.1114del (p.Gln372fs) rs765726949
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.208A>C (p.Thr70Pro) rs1328208245
NM_172250.3(MMAA):c.269A>T (p.Tyr90Phe) rs148404005
NM_172250.3(MMAA):c.282_287del (p.Ile94_Gly96delinsMet)
NM_172250.3(MMAA):c.284A>G (p.Gln95Arg)
NM_172250.3(MMAA):c.295G>A (p.Ala99Thr) rs1553957915
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.373A>G (p.Lys125Glu) rs1727722684
NM_172250.3(MMAA):c.383T>C (p.Leu128Pro) rs560188002
NM_172250.3(MMAA):c.439+4_439+7del rs1553957939
NM_172250.3(MMAA):c.457G>A (p.Gly153Ser)
NM_172250.3(MMAA):c.46C>A (p.Leu16Ile)
NM_172250.3(MMAA):c.508_509insAGG (p.Arg170delinsLysGly) rs1553958153
NM_172250.3(MMAA):c.509G>C (p.Arg170Thr)
NM_172250.3(MMAA):c.541C>G (p.Pro181Ala)
NM_172250.3(MMAA):c.542CTT[2] (p.Ser183del)
NM_172250.3(MMAA):c.562+4A>C rs1336573288
NM_172250.3(MMAA):c.599T>C (p.Leu200Ser)
NM_172250.3(MMAA):c.65G>T (p.Arg22Leu) rs375682603
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.718C>G (p.Leu240Val) rs752844506
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.862G>A (p.Val288Ile) rs886059089
NM_172250.3(MMAA):c.889G>A (p.Val297Met)
NM_172250.3(MMAA):c.928C>G (p.Leu310Val) rs1728166357
NM_172250.3(MMAA):c.970G>A (p.Val324Ile) rs1010220185

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