NM_005050.4(ABCD4):c.1411C>T (p.Arg471Trp)
|
rs45568335
|
0.00163
|
NM_000532.5(PCCB):c.815G>A (p.Arg272Gln)
|
rs150555106
|
0.00158
|
NM_022132.5(MCCC2):c.1322T>C (p.Ile441Thr)
|
rs139852818
|
0.00137
|
NM_022132.5(MCCC2):c.1433C>G (p.Ala478Gly)
|
rs35068278
|
0.00082
|
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_015506.3(MMACHC):c.181C>T (p.Arg61Trp)
|
rs200483477
|
0.00072
|
NM_001081.4(CUBN):c.10105A>G (p.Ser3369Gly)
|
rs145023719
|
0.00070
|
NM_015702.3(MMADHC):c.455C>G (p.Thr152Arg)
|
rs146795035
|
0.00067
|
NM_020166.5(MCCC1):c.1942G>A (p.Gly648Ser)
|
rs149017703
|
0.00056
|
NM_000255.4(MMUT):c.1115T>C (p.Ile372Thr)
|
rs150968643
|
0.00050
|
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_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_001698.3(AUH):c.730G>A (p.Asp244Asn)
|
rs202182817
|
0.00039
|
NM_000255.4(MMUT):c.1417G>T (p.Ala473Ser)
|
rs188766510
|
0.00033
|
NM_001609.4(ACADSB):c.1187A>C (p.Lys396Thr)
|
rs148640214
|
0.00033
|
NM_001081.4(CUBN):c.4376C>G (p.Ser1459Cys)
|
rs138022214
|
0.00032
|
NM_001081.4(CUBN):c.3116A>G (p.Tyr1039Cys)
|
rs150014503
|
0.00031
|
NM_001243279.3(ACSF3):c.43G>A (p.Ala15Thr)
|
rs375374971
|
0.00031
|
NM_015506.3(MMACHC):c.19G>A (p.Glu7Lys)
|
rs377405910
|
0.00030
|
NM_000255.4(MMUT):c.878A>G (p.Gln293Arg)
|
rs138374956
|
0.00029
|
NM_001081.4(CUBN):c.3646C>G (p.Pro1216Ala)
|
rs145881708
|
0.00027
|
NM_001081.4(CUBN):c.2932C>A (p.His978Asn)
|
rs369981313
|
0.00026
|
NM_001081.4(CUBN):c.6560C>T (p.Ser2187Leu)
|
rs143899993
|
0.00026
|
NM_001698.3(AUH):c.791G>A (p.Gly264Glu)
|
rs376821113
|
0.00024
|
NM_001081.4(CUBN):c.8071G>A (p.Gly2691Arg)
|
rs1801237
|
0.00022
|
NM_001370658.1(BTD):c.1145A>G (p.Asn382Ser)
|
rs201023772
|
0.00022
|
NM_001081.4(CUBN):c.4702G>A (p.Asp1568Asn)
|
rs533512333
|
0.00021
|
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.6020C>T (p.Thr2007Met)
|
rs140202552
|
0.00019
|
NM_001081.4(CUBN):c.6479A>G (p.Asp2160Gly)
|
rs144704318
|
0.00019
|
NM_001243279.3(ACSF3):c.721G>A (p.Val241Met)
|
rs145141190
|
0.00019
|
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.8084G>A (p.Gly2695Asp)
|
rs142667203
|
0.00018
|
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.6260C>G (p.Ser2087Cys)
|
rs376641725
|
0.00016
|
NM_000255.4(MMUT):c.1865T>C (p.Met622Thr)
|
rs201536536
|
0.00015
|
NM_001081.4(CUBN):c.427A>C (p.Asn143His)
|
rs151018922
|
0.00015
|
NM_013247.5(HTRA2):c.77G>A (p.Gly26Glu)
|
rs145946172
|
0.00015
|
NM_020166.5(MCCC1):c.1894C>T (p.Pro632Ser)
|
rs142867987
|
0.00015
|
NM_022132.5(MCCC2):c.746C>T (p.Ala249Val)
|
rs141676987
|
0.00015
|
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.9922T>C (p.Trp3308Arg)
|
rs752843169
|
0.00014
|
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_001352514.2(HLCS):c.1550C>T (p.Thr517Ile)
|
rs575286749
|
0.00013
|
NM_001352514.2(HLCS):c.2407C>T (p.Pro803Ser)
|
rs538159086
|
0.00013
|
NM_015506.3(MMACHC):c.584G>C (p.Gly195Ala)
|
rs754862915
|
0.00013
|
NM_001081.4(CUBN):c.2738G>C (p.Ser913Thr)
|
rs201589187
|
0.00012
|
NM_020166.5(MCCC1):c.1561G>A (p.Ala521Thr)
|
rs149957640
|
0.00012
|
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.5323C>T (p.Arg1775Trp)
|
rs1276708
|
0.00010
|
NM_001258392.3(CLPB):c.748C>G (p.Arg250Gly)
|
rs146762466
|
0.00010
|
NM_001698.3(AUH):c.679G>A (p.Ala227Thr)
|
rs141700491
|
0.00010
|
NM_015506.3(MMACHC):c.641G>A (p.Arg214His)
|
rs202189863
|
0.00010
|
NM_000255.4(MMUT):c.2087A>C (p.Asp696Ala)
|
rs759407117
|
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.536G>T (p.Gly179Val)
|
rs370373276
|
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_001698.3(AUH):c.998C>T (p.Pro333Leu)
|
rs541546111
|
0.00009
|
NM_015506.3(MMACHC):c.650A>T (p.Glu217Val)
|
rs199641732
|
0.00009
|
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.4216G>A (p.Gly1406Arg)
|
rs771763775
|
0.00008
|
NM_001081.4(CUBN):c.6613G>A (p.Gly2205Arg)
|
rs140883483
|
0.00008
|
NM_001370658.1(BTD):c.986A>C (p.Asn329Thr)
|
rs200327983
|
0.00008
|
NM_000255.4(MMUT):c.1963C>T (p.Arg655Cys)
|
rs541001298
|
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.7990C>G (p.Gln2664Glu)
|
rs575118918
|
0.00007
|
NM_001081.4(CUBN):c.8891C>G (p.Ser2964Cys)
|
rs148348845
|
0.00007
|
NM_001243279.3(ACSF3):c.392C>T (p.Ala131Val)
|
rs148768970
|
0.00007
|
NM_052845.4(MMAB):c.14G>A (p.Gly5Asp)
|
rs769048646
|
0.00007
|
NM_052845.4(MMAB):c.521C>T (p.Ser174Leu)
|
rs140881518
|
0.00007
|
NM_000255.4(MMUT):c.912G>A (p.Arg304=)
|
rs201311681
|
0.00006
|
NM_001081.4(CUBN):c.2120G>A (p.Arg707His)
|
rs763524933
|
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.8056T>C (p.Phe2686Leu)
|
rs755819982
|
0.00006
|
NM_001081.4(CUBN):c.9298G>A (p.Asp3100Asn)
|
rs202189846
|
0.00006
|
NM_001258392.3(CLPB):c.844A>G (p.Met282Val)
|
rs773028492
|
0.00006
|
NM_172250.3(MMAA):c.92G>A (p.Ser31Asn)
|
rs142126209
|
0.00006
|
NM_000255.4(MMUT):c.1630G>A (p.Gly544Arg)
|
rs78150750
|
0.00005
|
NM_001001563.5(TIMM50):c.1033C>T (p.Arg345Cys)
|
rs137968278
|
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.2476G>A (p.Val826Ile)
|
rs141874896
|
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_005050.4(ABCD4):c.364C>T (p.Leu122Phe)
|
rs141808601
|
0.00005
|
NM_172250.3(MMAA):c.989G>A (p.Arg330Gln)
|
rs140031911
|
0.00005
|
NM_000019.4(ACAT1):c.637G>A (p.Ala213Thr)
|
rs772087249
|
0.00004
|
NM_000191.3(HMGCL):c.950A>G (p.Lys317Arg)
|
rs777758512
|
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_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.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.7976T>C (p.Val2659Ala)
|
rs1007248288
|
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_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.1703C>T (p.Ala568Val)
|
rs142633119
|
0.00004
|
NM_001370658.1(BTD):c.49G>A (p.Val17Met)
|
rs772369148
|
0.00004
|
NM_001609.4(ACADSB):c.1232C>T (p.Thr411Met)
|
rs374629804
|
0.00004
|
NM_001609.4(ACADSB):c.157C>T (p.Pro53Ser)
|
rs150022323
|
0.00004
|
NM_005050.4(ABCD4):c.362G>A (p.Arg121His)
|
rs201744101
|
0.00004
|
NM_005334.3(HCFC1):c.4574C>T (p.Thr1525Ile)
|
rs782370174
|
0.00004
|
NM_015506.3(MMACHC):c.296T>C (p.Ile99Thr)
|
rs370229341
|
0.00004
|
NM_015506.3(MMACHC):c.88T>C (p.Trp30Arg)
|
rs745419717
|
0.00004
|
NM_000191.3(HMGCL):c.651G>T (p.Met217Ile)
|
rs746968587
|
0.00003
|
NM_000282.4(PCCA):c.803G>A (p.Arg268His)
|
rs368047060
|
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.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_001243279.3(ACSF3):c.953G>A (p.Arg318His)
|
rs200352879
|
0.00003
|
NM_001352514.2(HLCS):c.2584G>A (p.Asp862Asn)
|
rs140014588
|
0.00003
|
NM_001370658.1(BTD):c.377C>G (p.Pro126Arg)
|
rs371116229
|
0.00003
|
NM_002225.5(IVD):c.334A>T (p.Met112Leu)
|
rs772021923
|
0.00003
|
NM_020166.5(MCCC1):c.1715G>C (p.Gly572Ala)
|
rs182830931
|
0.00003
|
NM_020166.5(MCCC1):c.2089G>A (p.Val697Met)
|
rs776138490
|
0.00003
|
NM_022132.5(MCCC2):c.1206A>G (p.Gln402=)
|
rs749406136
|
0.00003
|
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_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.946A>T (p.Met316Leu)
|
rs200311920
|
0.00002
|
NM_000532.5(PCCB):c.1372G>A (p.Ala458Thr)
|
rs542389615
|
0.00002
|
NM_000532.5(PCCB):c.543G>C (p.Leu181=)
|
rs777868289
|
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.5758G>A (p.Ala1920Thr)
|
rs770772474
|
0.00002
|
NM_001081.4(CUBN):c.5917A>G (p.Ile1973Val)
|
rs556462218
|
0.00002
|
NM_001081.4(CUBN):c.8204A>C (p.Asp2735Ala)
|
rs558369938
|
0.00002
|
NM_001243279.3(ACSF3):c.31C>T (p.Arg11Cys)
|
rs901081235
|
0.00002
|
NM_001258392.3(CLPB):c.214G>A (p.Gly72Arg)
|
rs758376345
|
0.00002
|
NM_005050.4(ABCD4):c.20C>T (p.Ala7Val)
|
rs763842574
|
0.00002
|
NM_015506.2(MMACHC):c.-123A>T
|
rs539415170
|
0.00002
|
NM_015506.3(MMACHC):c.683C>T (p.Ala228Val)
|
rs201269886
|
0.00002
|
NM_015506.3(MMACHC):c.840del (p.Gly281fs)
|
rs757384010
|
0.00002
|
NM_032861.4(SERAC1):c.1309-19T>G
|
rs372001660
|
0.00002
|
NM_000019.4(ACAT1):c.155T>C (p.Ile52Thr)
|
rs151080188
|
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.1669C>T (p.Arg557Trp)
|
rs886061559
|
0.00001
|
NM_000255.4(MMUT):c.1828C>T (p.Arg610Cys)
|
rs770978452
|
0.00001
|
NM_000255.4(MMUT):c.1906A>G (p.Thr636Ala)
|
rs569669261
|
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.359A>G (p.Asn120Ser)
|
rs776108716
|
0.00001
|
NM_000255.4(MMUT):c.406G>A (p.Val136Ile)
|
rs1767739165
|
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_000282.4(PCCA):c.1894A>G (p.Thr632Ala)
|
rs376313696
|
0.00001
|
NM_000282.4(PCCA):c.484G>A (p.Val162Ile)
|
rs1442819667
|
0.00001
|
NM_000532.5(PCCB):c.1145A>G (p.Asp382Gly)
|
rs201138170
|
0.00001
|
NM_000532.5(PCCB):c.1253C>G (p.Ala418Gly)
|
rs770279302
|
0.00001
|
NM_000532.5(PCCB):c.1378A>G (p.Ile460Val)
|
rs376998134
|
0.00001
|
NM_000532.5(PCCB):c.733G>A (p.Gly245Ser)
|
rs756414710
|
0.00001
|
NM_000532.5(PCCB):c.876C>G (p.His292Gln)
|
rs776893713
|
0.00001
|
NM_001081.4(CUBN):c.1022A>G (p.Gln341Arg)
|
rs149517557
|
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.2441A>G (p.Gln814Arg)
|
rs770392464
|
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.3932G>A (p.Arg1311Gln)
|
rs1037514591
|
0.00001
|
NM_001081.4(CUBN):c.4907G>T (p.Arg1636Leu)
|
rs538984401
|
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.6821+3A>G
|
rs767078847
|
0.00001
|
NM_001081.4(CUBN):c.6847C>T (p.Arg2283Trp)
|
rs150117913
|
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.8222C>A (p.Thr2741Asn)
|
rs771697506
|
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.9527A>G (p.Asn3176Ser)
|
rs750045664
|
0.00001
|
NM_001243279.3(ACSF3):c.1013C>T (p.Pro338Leu)
|
rs779630954
|
0.00001
|
NM_001243279.3(ACSF3):c.356G>A (p.Gly119Asp)
|
rs754782061
|
0.00001
|
NM_001370658.1(BTD):c.1379G>A (p.Gly460Glu)
|
rs558477960
|
0.00001
|
NM_001370658.1(BTD):c.320C>T (p.Pro107Leu)
|
rs575787457
|
0.00001
|
NM_001370658.1(BTD):c.545A>G (p.Asn182Ser)
|
rs397514376
|
0.00001
|
NM_005334.3(HCFC1):c.4153A>G (p.Arg1385Gly)
|
rs781783048
|
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.434T>C (p.Ile145Thr)
|
rs759921519
|
0.00001
|
NM_015506.3(MMACHC):c.548T>C (p.Val183Ala)
|
rs780926592
|
0.00001
|
NM_015702.3(MMADHC):c.742C>T (p.Arg248Cys)
|
rs544727246
|
0.00001
|
NM_020166.5(MCCC1):c.1261C>T (p.Arg421Trp)
|
rs764744442
|
0.00001
|
NM_020166.5(MCCC1):c.1703A>G (p.Tyr568Cys)
|
rs1577245387
|
0.00001
|
NM_020166.5(MCCC1):c.793C>T (p.His265Tyr)
|
rs767642062
|
0.00001
|
NM_025136.4(OPA3):c.123C>G (p.Ile41Met)
|
rs763083098
|
0.00001
|
NM_172250.3(MMAA):c.833G>A (p.Gly278Asp)
|
rs761964238
|
0.00001
|
NM_000191.3(HMGCL):c.20C>G (p.Ala7Gly)
|
rs754437215
|
|
NM_000255.4(MMUT):c.-35G>T
|
rs483352795
|
|
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.1670G>A (p.Arg557Gln)
|
rs756389945
|
|
NM_000255.4(MMUT):c.188C>T (p.Thr63Ile)
|
rs1767776360
|
|
NM_000255.4(MMUT):c.733A>G (p.Ile245Val)
|
rs754464973
|
|
NM_000282.4(PCCA):c.1138T>C (p.Tyr380His)
|
rs1303977643
|
|
NM_001017989.3(OPA3):c.445del (p.Leu149fs)
|
rs780299639
|
|
NM_001017989.3(OPA3):c.535delinsAA (p.Glu179fs)
|
rs1555730141
|
|
NM_001081.4(CUBN):c.10077G>C (p.Ser3359=)
|
rs147563157
|
|
NM_001081.4(CUBN):c.1036G>C (p.Val346Leu)
|
rs886046879
|
|
NM_001081.4(CUBN):c.10729G>T (p.Ala3577Ser)
|
rs139051724
|
|
NM_001081.4(CUBN):c.1837G>C (p.Gly613Arg)
|
rs2131869531
|
|
NM_001081.4(CUBN):c.2791G>A (p.Ala931Thr)
|
rs1042319182
|
|
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.4069C>G (p.Pro1357Ala)
|
rs780012075
|
|
NM_001081.4(CUBN):c.4720A>G (p.Met1574Val)
|
rs1482983523
|
|
NM_001081.4(CUBN):c.4934A>G (p.Gln1645Arg)
|
rs1243565121
|
|
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.5965G>A (p.Val1989Met)
|
rs368951850
|
|
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.7916A>T (p.Asp2639Val)
|
rs2131430542
|
|
NM_001081.4(CUBN):c.8273C>T (p.Pro2758Leu)
|
rs2131420669
|
|
NM_001081.4(CUBN):c.8578T>G (p.Cys2860Gly)
|
rs138719573
|
|
NM_001243279.3(ACSF3):c.-8T>A
|
rs1210097201
|
|
NM_001243279.3(ACSF3):c.1673G>C (p.Arg558Pro)
|
rs140328142
|
|
NM_001243279.3(ACSF3):c.628A>C (p.Lys210Gln)
|
rs538548478
|
|
NM_001352514.2(HLCS):c.1856C>G (p.Ala619Gly)
|
rs767190021
|
|
NM_001352514.2(HLCS):c.2600del (p.Leu867fs)
|
rs761447836
|
|
NM_001370658.1(BTD):c.1163T>C (p.Val388Ala)
|
rs1553654038
|
|
NM_002225.5(IVD):c.148C>G (p.Arg50Gly)
|
rs34695403
|
|
NM_005334.3(HCFC1):c.2231C>T (p.Ala744Val)
|
rs2065388763
|
|
NM_005334.3(HCFC1):c.4576G>A (p.Ala1526Thr)
|
rs782652831
|
|
NM_014384.3(ACAD8):c.235C>G (p.Arg79Gly)
|
rs377629003
|
|
NM_015506.3(MMACHC):c.182G>A (p.Arg61Gln)
|
rs201777449
|
|
NM_015506.3(MMACHC):c.327_329delinsATTGCTGACTAC (p.Asn110delinsLeuLeuThrThr)
|
rs2149323547
|
|
NM_015506.3(MMACHC):c.395G>A (p.Arg132Gln)
|
rs369335868
|
|
NM_015506.3(MMACHC):c.433A>G (p.Ile145Val)
|
rs74365027
|
|
NM_015506.3(MMACHC):c.544T>C (p.Cys182Arg)
|
rs955468279
|
|
NM_015506.3(MMACHC):c.545G>A (p.Cys182Tyr)
|
rs372010149
|
|
NM_015506.3(MMACHC):c.572C>T (p.Ala191Val)
|
rs375442063
|
|
NM_015506.3(MMACHC):c.701del (p.Leu234fs)
|
rs767339897
|
|
NM_015506.3(MMACHC):c.763C>T (p.Pro255Ser)
|
rs533256855
|
|
NM_015506.3(MMACHC):c.839del (p.Pro280fs)
|
rs1553163017
|
|
NM_015506.3(MMACHC):c.848G>C (p.Ter283Ser)
|
rs201025783
|
|
NM_015702.3(MMADHC):c.311C>T (p.Ala104Val)
|
rs533388008
|
|
NM_015702.3(MMADHC):c.609+6T>C
|
rs1682704400
|
|
NM_018368.4(LMBRD1):c.1331T>C (p.Leu444Ser)
|
rs2149843427
|
|
NM_022132.5(MCCC2):c.1635dup (p.Ser546Ter)
|
rs768272570
|
|
NM_022132.5(MCCC2):c.433T>C (p.Tyr145His)
|
rs1745481314
|
|
NM_172250.3(MMAA):c.1198G>T (p.Ala400Ser)
|
rs895867414
|
|
NM_172250.3(MMAA):c.800C>T (p.Ala267Val)
|
rs138854691
|
|