NM_001370658.1(BTD):c.1270G>C (p.Asp424His)
|
rs13078881
|
0.03225
|
NM_001243279.3(ACSF3):c.1672C>T (p.Arg558Trp)
|
rs141090143
|
0.00278
|
NM_015506.3(MMACHC):c.271dup (p.Arg91fs)
|
rs398124292
|
0.00093
|
NM_002225.5(IVD):c.932C>T (p.Ala311Val)
|
rs28940889
|
0.00077
|
NM_018368.4(LMBRD1):c.1056del (p.Asn353fs)
|
rs749272546
|
0.00062
|
NM_001609.4(ACADSB):c.443C>T (p.Thr148Ile)
|
rs58639322
|
0.00060
|
NM_022132.5(MCCC2):c.1015G>A (p.Val339Met)
|
rs150591260
|
0.00057
|
NM_001370658.1(BTD):c.1308A>C (p.Gln436His)
|
rs80338685
|
0.00046
|
NM_001370658.1(BTD):c.451G>A (p.Ala151Thr)
|
rs13073139
|
0.00039
|
NM_015506.3(MMACHC):c.440G>C (p.Gly147Ala)
|
rs140522266
|
0.00034
|
NM_001370658.1(BTD):c.1569C>A (p.Asp523Glu)
|
rs146136265
|
0.00024
|
NM_172250.3(MMAA):c.433C>T (p.Arg145Ter)
|
rs104893851
|
0.00017
|
NM_000532.5(PCCB):c.1606A>G (p.Asn536Asp)
|
rs202247823
|
0.00016
|
NM_001370658.1(BTD):c.410G>A (p.Arg137His)
|
rs146015592
|
0.00016
|
NM_014384.3(ACAD8):c.1129G>A (p.Gly377Ser)
|
rs121908419
|
0.00016
|
NM_015506.3(MMACHC):c.389A>G (p.Tyr130Cys)
|
rs200094982
|
0.00014
|
NM_022132.5(MCCC2):c.295G>C (p.Glu99Gln)
|
rs119103219
|
0.00014
|
NM_052845.4(MMAB):c.556C>T (p.Arg186Trp)
|
rs28941784
|
0.00014
|
NM_002225.5(IVD):c.358G>A (p.Gly120Arg)
|
rs142761835
|
0.00013
|
NM_001370658.1(BTD):c.1552C>T (p.Arg518Cys)
|
rs80338686
|
0.00011
|
NM_015506.3(MMACHC):c.331C>T (p.Arg111Ter)
|
rs121918242
|
0.00011
|
NM_020166.5(MCCC1):c.1302T>G (p.Ile434Met)
|
rs376289130
|
0.00011
|
NM_020166.5(MCCC1):c.872C>T (p.Ala291Val)
|
rs201041864
|
0.00011
|
NM_022132.5(MCCC2):c.1065A>T (p.Leu355Phe)
|
rs757052602
|
0.00011
|
NM_001370658.1(BTD):c.1535C>T (p.Thr512Met)
|
rs104893688
|
0.00010
|
NM_001352514.2(HLCS):c.1974dup (p.Val659fs)
|
rs767533946
|
0.00009
|
NM_000282.4(PCCA):c.1284+1G>A
|
rs752761437
|
0.00007
|
NM_001370658.1(BTD):c.566G>A (p.Arg189His)
|
rs398123139
|
0.00007
|
NM_002225.5(IVD):c.550+1G>A
|
rs377147994
|
0.00007
|
NM_015506.3(MMACHC):c.482G>A (p.Arg161Gln)
|
rs121918243
|
0.00007
|
NM_000019.4(ACAT1):c.455G>C (p.Gly152Ala)
|
rs762991875
|
0.00006
|
NM_000191.3(HMGCL):c.109G>T (p.Glu37Ter)
|
rs763494292
|
0.00006
|
NM_000191.3(HMGCL):c.853del (p.Met284_Leu285insTer)
|
rs779339230
|
0.00006
|
NM_000282.4(PCCA):c.229C>T (p.Arg77Trp)
|
rs141371306
|
0.00006
|
NM_000532.5(PCCB):c.1228C>T (p.Arg410Trp)
|
rs121964959
|
0.00006
|
NM_001370658.1(BTD):c.695A>G (p.Asp232Gly)
|
rs28934601
|
0.00006
|
NM_015506.3(MMACHC):c.481C>T (p.Arg161Ter)
|
rs370596113
|
0.00006
|
NM_020166.5(MCCC1):c.974T>G (p.Met325Arg)
|
rs119103212
|
0.00006
|
NM_000532.5(PCCB):c.683C>T (p.Pro228Leu)
|
rs374722096
|
0.00005
|
NM_020166.5(MCCC1):c.1114C>T (p.Gln372Ter)
|
rs544349961
|
0.00005
|
NM_000191.3(HMGCL):c.122G>A (p.Arg41Gln)
|
rs121964997
|
0.00004
|
NM_000191.3(HMGCL):c.698A>G (p.His233Arg)
|
rs727503963
|
0.00004
|
NM_001243279.3(ACSF3):c.781G>T (p.Gly261Ter)
|
rs746877433
|
0.00004
|
NM_001352514.2(HLCS):c.2434C>T (p.Arg812Ter)
|
rs146448211
|
0.00004
|
NM_001370658.1(BTD):c.873del (p.Ser291fs)
|
rs397514395
|
0.00004
|
NM_002225.5(IVD):c.1174C>T (p.Arg392Cys)
|
rs371427844
|
0.00004
|
NM_052845.4(MMAB):c.571C>T (p.Arg191Trp)
|
rs376128990
|
0.00004
|
NM_052845.4(MMAB):c.700C>T (p.Gln234Ter)
|
rs369296618
|
0.00004
|
NM_000019.4(ACAT1):c.1006-2A>C
|
rs145229472
|
0.00003
|
NM_000282.4(PCCA):c.937C>T (p.Arg313Ter)
|
rs138149179
|
0.00003
|
NM_000532.5(PCCB):c.1087T>C (p.Ser363Pro)
|
rs770341883
|
0.00003
|
NM_000532.5(PCCB):c.1398+1G>T
|
rs794727092
|
0.00003
|
NM_000532.5(PCCB):c.562G>A (p.Gly188Arg)
|
rs746102997
|
0.00003
|
NM_001352514.2(HLCS):c.1960+5G>A
|
rs753887925
|
0.00003
|
NM_001352514.2(HLCS):c.1963C>T (p.Arg655Trp)
|
rs119103229
|
0.00003
|
NM_001370658.1(BTD):c.1036_1037dup (p.Gly347fs)
|
rs1004027979
|
0.00003
|
NM_001370658.1(BTD):c.535G>A (p.Val179Met)
|
rs397514375
|
0.00003
|
NM_001370658.1(BTD):c.908A>G (p.His303Arg)
|
rs397507176
|
0.00003
|
NM_002225.5(IVD):c.1175G>A (p.Arg392His)
|
rs982218848
|
0.00003
|
NM_015506.3(MMACHC):c.615C>A (p.Tyr205Ter)
|
rs747527726
|
0.00003
|
NM_015506.3(MMACHC):c.666C>A (p.Tyr222Ter)
|
rs201266016
|
0.00003
|
NM_020166.5(MCCC1):c.1526del (p.Cys509fs)
|
rs727504002
|
0.00003
|
NM_020166.5(MCCC1):c.1930G>T (p.Glu644Ter)
|
rs905321122
|
0.00003
|
NM_052845.4(MMAB):c.291-1G>A
|
rs199971687
|
0.00003
|
NM_052845.4(MMAB):c.572G>A (p.Arg191Gln)
|
rs746219370
|
0.00003
|
NM_172250.3(MMAA):c.387C>A (p.Tyr129Ter)
|
rs796051992
|
0.00003
|
NM_172250.3(MMAA):c.658G>A (p.Val220Met)
|
rs150376474
|
0.00003
|
NM_000019.4(ACAT1):c.1124A>G (p.Asn375Ser)
|
rs373771053
|
0.00002
|
NM_000019.4(ACAT1):c.547G>A (p.Gly183Arg)
|
rs120074141
|
0.00002
|
NM_000019.4(ACAT1):c.622C>T (p.Arg208Ter)
|
rs532190594
|
0.00002
|
NM_000282.4(PCCA):c.775_779del (p.Leu259fs)
|
rs794726976
|
0.00002
|
NM_000532.5(PCCB):c.1304A>G (p.Tyr435Cys)
|
rs121964961
|
0.00002
|
NM_001243279.3(ACSF3):c.424C>T (p.Gln142Ter)
|
rs142575695
|
0.00002
|
NM_001352514.2(HLCS):c.1529T>A (p.Val510Asp)
|
rs769499327
|
0.00002
|
NM_001352514.2(HLCS):c.1985G>A (p.Ser662Asn)
|
rs773398782
|
0.00002
|
NM_001352514.2(HLCS):c.2134C>T (p.Arg712Ter)
|
rs772791252
|
0.00002
|
NM_001352514.2(HLCS):c.2152G>A (p.Asp718Asn)
|
rs119103228
|
0.00002
|
NM_001370658.1(BTD):c.468G>T (p.Lys156Asn)
|
rs397514367
|
0.00002
|
NM_002225.5(IVD):c.1123G>A (p.Gly375Ser)
|
rs544110604
|
0.00002
|
NM_015506.3(MMACHC):c.276G>T (p.Glu92Asp)
|
rs556977618
|
0.00002
|
NM_015506.3(MMACHC):c.457C>T (p.Arg153Ter)
|
rs757325789
|
0.00002
|
NM_015506.3(MMACHC):c.608G>A (p.Trp203Ter)
|
rs398124295
|
0.00002
|
NM_015506.3(MMACHC):c.609G>A (p.Trp203Ter)
|
rs587776889
|
0.00002
|
NM_015702.3(MMADHC):c.419dup (p.Tyr140Ter)
|
rs397509363
|
0.00002
|
NM_015702.3(MMADHC):c.433A>T (p.Arg145Ter)
|
rs1431992617
|
0.00002
|
NM_020166.5(MCCC1):c.137-2A>G
|
rs727504006
|
0.00002
|
NM_020166.5(MCCC1):c.2079del (p.Thr693_Val694insTer)
|
rs119103217
|
0.00002
|
NM_020166.5(MCCC1):c.841C>T (p.Arg281Ter)
|
rs185741664
|
0.00002
|
NM_022132.5(MCCC2):c.463C>T (p.Arg155Trp)
|
rs141030969
|
0.00002
|
NM_022132.5(MCCC2):c.568C>T (p.His190Tyr)
|
rs773774134
|
0.00002
|
NM_032861.4(SERAC1):c.442C>T (p.Arg148Ter)
|
rs387907236
|
0.00002
|
NM_052845.4(MMAB):c.12C>A (p.Cys4Ter)
|
rs1481415459
|
0.00002
|
NM_052845.4(MMAB):c.568C>T (p.Arg190Cys)
|
rs398124434
|
0.00002
|
NM_172250.3(MMAA):c.1075C>T (p.Arg359Ter)
|
rs999844958
|
0.00002
|
NM_172250.3(MMAA):c.266T>C (p.Leu89Pro)
|
rs864309726
|
0.00002
|
NM_000019.4(ACAT1):c.472A>G (p.Asn158Asp)
|
rs148639841
|
0.00001
|
NM_000019.4(ACAT1):c.814C>T (p.Gln272Ter)
|
rs120074144
|
0.00001
|
NM_000019.4(ACAT1):c.826+1G>T
|
rs727503796
|
0.00001
|
NM_000019.4(ACAT1):c.949G>A (p.Asp317Asn)
|
rs780486838
|
0.00001
|
NM_000191.3(HMGCL):c.121C>T (p.Arg41Ter)
|
rs770225915
|
0.00001
|
NM_000191.3(HMGCL):c.31C>T (p.Arg11Ter)
|
rs1212444447
|
0.00001
|
NM_000191.3(HMGCL):c.494G>A (p.Arg165Gln)
|
rs199587895
|
0.00001
|
NM_000191.3(HMGCL):c.602C>A (p.Ser201Tyr)
|
rs760106433
|
0.00001
|
NM_000282.4(PCCA):c.1195C>T (p.Arg399Trp)
|
rs1234167788
|
0.00001
|
NM_000282.4(PCCA):c.1196G>A (p.Arg399Gln)
|
rs1301904623
|
0.00001
|
NM_000282.4(PCCA):c.1855C>T (p.Arg619Ter)
|
rs1194679272
|
0.00001
|
NM_000282.4(PCCA):c.2056G>T (p.Glu686Ter)
|
rs1241896966
|
0.00001
|
NM_000282.4(PCCA):c.231+1G>C
|
rs972937270
|
0.00001
|
NM_000282.4(PCCA):c.415-2A>C
|
rs746286209
|
0.00001
|
NM_000282.4(PCCA):c.893A>G (p.Lys298Arg)
|
rs1444049793
|
0.00001
|
NM_000532.5(PCCB):c.1283C>T (p.Thr428Ile)
|
rs111033542
|
0.00001
|
NM_000532.5(PCCB):c.1301C>T (p.Ala434Val)
|
rs751538672
|
0.00001
|
NM_000532.5(PCCB):c.1316A>G (p.Tyr439Cys)
|
rs769521436
|
0.00001
|
NM_000532.5(PCCB):c.1399-2_1399-1del
|
rs1317123493
|
0.00001
|
NM_000532.5(PCCB):c.1495C>T (p.Arg499Ter)
|
rs202247820
|
0.00001
|
NM_000532.5(PCCB):c.331C>T (p.Arg111Ter)
|
rs753981900
|
0.00001
|
NM_000532.5(PCCB):c.337C>T (p.Arg113Ter)
|
rs186031457
|
0.00001
|
NM_000532.5(PCCB):c.484G>T (p.Gly162Trp)
|
rs754752068
|
0.00001
|
NM_000532.5(PCCB):c.493C>T (p.Arg165Trp)
|
rs879253815
|
0.00001
|
NM_000532.5(PCCB):c.494G>A (p.Arg165Gln)
|
rs1304714042
|
0.00001
|
NM_000532.5(PCCB):c.502G>A (p.Glu168Lys)
|
rs121964960
|
0.00001
|
NM_000532.5(PCCB):c.942C>A (p.Tyr314Ter)
|
rs572246667
|
0.00001
|
NM_001243279.3(ACSF3):c.1567C>T (p.Arg523Ter)
|
rs387907118
|
0.00001
|
NM_001352514.2(HLCS):c.1088T>G (p.Leu363Arg)
|
rs28934602
|
0.00001
|
NM_001352514.2(HLCS):c.1096dup (p.Ile366fs)
|
rs773102942
|
0.00001
|
NM_001352514.2(HLCS):c.2182G>A (p.Gly728Ser)
|
rs119103230
|
0.00001
|
NM_001352514.2(HLCS):c.2451-1G>A
|
rs1158898827
|
0.00001
|
NM_001370658.1(BTD):c.-17+2T>C
|
rs745648160
|
0.00001
|
NM_001370658.1(BTD):c.1207T>C (p.Cys403Arg)
|
rs397514412
|
0.00001
|
NM_001370658.1(BTD):c.124G>A (p.Val42Met)
|
rs397507170
|
0.00001
|
NM_001370658.1(BTD):c.175C>T (p.Arg59Cys)
|
rs104893687
|
0.00001
|
NM_001370658.1(BTD):c.281G>T (p.Gly94Val)
|
rs375712490
|
0.00001
|
NM_001370658.1(BTD):c.360G>A (p.Trp120Ter)
|
rs1306944669
|
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.571C>T (p.Arg191Cys)
|
rs372844636
|
0.00001
|
NM_001370658.1(BTD):c.583C>T (p.Leu195Phe)
|
rs190386869
|
0.00001
|
NM_001370658.1(BTD):c.674G>A (p.Cys225Tyr)
|
rs397507175
|
0.00001
|
NM_001609.4(ACADSB):c.303+3A>G
|
rs1345480688
|
0.00001
|
NM_002225.5(IVD):c.1199A>G (p.Tyr400Cys)
|
rs773560012
|
0.00001
|
NM_002225.5(IVD):c.149G>A (p.Arg50His)
|
rs2229311
|
0.00001
|
NM_002225.5(IVD):c.232C>T (p.Arg78Ter)
|
rs765815516
|
0.00001
|
NM_002225.5(IVD):c.349C>T (p.Arg117Ter)
|
rs776015412
|
0.00001
|
NM_002225.5(IVD):c.381del (p.Ala128fs)
|
rs769048174
|
0.00001
|
NM_002225.5(IVD):c.397_398del (p.Cys133fs)
|
rs398123682
|
0.00001
|
NM_002225.5(IVD):c.456+2T>C
|
rs398123683
|
0.00001
|
NM_002225.5(IVD):c.498del (p.Glu166fs)
|
rs398123684
|
0.00001
|
NM_002225.5(IVD):c.890C>T (p.Ala297Val)
|
rs796051983
|
0.00001
|
NM_014362.4(HIBCH):c.365A>G (p.Tyr122Cys)
|
rs121918329
|
0.00001
|
NM_014362.4(HIBCH):c.517+1G>A
|
rs1021805910
|
0.00001
|
NM_015506.3(MMACHC):c.217C>T (p.Arg73Ter)
|
rs796051995
|
0.00001
|
NM_015506.3(MMACHC):c.292C>T (p.Gln98Ter)
|
rs759188647
|
0.00001
|
NM_015506.3(MMACHC):c.388T>C (p.Tyr130His)
|
rs372670428
|
0.00001
|
NM_015506.3(MMACHC):c.394C>T (p.Arg132Ter)
|
rs121918241
|
0.00001
|
NM_015506.3(MMACHC):c.398_399del (p.Gln133fs)
|
rs746135357
|
0.00001
|
NM_015506.3(MMACHC):c.420G>A (p.Trp140Ter)
|
rs796051996
|
0.00001
|
NM_015506.3(MMACHC):c.434dup (p.Ser146fs)
|
rs768978351
|
0.00001
|
NM_015506.3(MMACHC):c.567dup (p.Ile190fs)
|
rs1463495909
|
0.00001
|
NM_015506.3(MMACHC):c.616C>T (p.Arg206Trp)
|
rs538023671
|
0.00001
|
NM_015506.3(MMACHC):c.80A>G (p.Gln27Arg)
|
rs546099787
|
0.00001
|
NM_020166.5(MCCC1):c.1225C>T (p.Arg409Ter)
|
rs1484347924
|
0.00001
|
NM_020166.5(MCCC1):c.639+2T>A
|
rs199914879
|
0.00001
|
NM_020166.5(MCCC1):c.863A>G (p.Glu288Gly)
|
rs746500530
|
0.00001
|
NM_020166.5(MCCC1):c.980C>G (p.Ser327Ter)
|
rs750484977
|
0.00001
|
NM_022132.5(MCCC2):c.464G>A (p.Arg155Gln)
|
rs119103220
|
0.00001
|
NM_022132.5(MCCC2):c.592C>T (p.Gln198Ter)
|
rs764286389
|
0.00001
|
NM_022132.5(MCCC2):c.838G>T (p.Asp280Tyr)
|
rs119103226
|
0.00001
|
NM_022132.5(MCCC2):c.994C>T (p.Arg332Ter)
|
rs727504010
|
0.00001
|
NM_052845.4(MMAB):c.197-1G>T
|
rs763935916
|
0.00001
|
NM_172250.3(MMAA):c.1076G>A (p.Arg359Gln)
|
rs864309731
|
0.00001
|
NM_172250.3(MMAA):c.283C>T (p.Gln95Ter)
|
rs104893846
|
0.00001
|
NM_172250.3(MMAA):c.586C>T (p.Arg196Ter)
|
rs1029096863
|
0.00001
|
NM_172250.3(MMAA):c.64C>T (p.Arg22Ter)
|
rs765799472
|
0.00001
|
NM_172250.3(MMAA):c.742C>T (p.Gln248Ter)
|
rs757548934
|
0.00001
|
NM_172250.3(MMAA):c.988C>T (p.Arg330Ter)
|
rs571038432
|
0.00001
|
NM_000019.4(ACAT1):c.1006-1G>C
|
rs1131691567
|
|
NM_000019.4(ACAT1):c.1033_1034del (p.Glu345fs)
|
rs781496140
|
|
NM_000019.4(ACAT1):c.369_372del (p.Asn123fs)
|
|
|
NM_000019.4(ACAT1):c.435+1G>A
|
rs1591363834
|
|
NM_000019.4(ACAT1):c.52dup (p.Leu18fs)
|
rs1476273214
|
|
NM_000019.4(ACAT1):c.730+2T>C
|
rs398123096
|
|
NM_000019.4(ACAT1):c.83_84del (p.Tyr28fs)
|
rs749873354
|
|
NM_000191.3(HMGCL):c.206_207del (p.Ser69fs)
|
rs752137615
|
|
NM_000191.3(HMGCL):c.252+1G>A
|
rs775218067
|
|
NM_000191.3(HMGCL):c.308_317dup (p.Thr107fs)
|
rs1274176298
|
|
NM_000191.3(HMGCL):c.497+1dup
|
|
|
NM_000191.3(HMGCL):c.505_506del (p.Ser169fs)
|
rs764264834
|
|
NM_000191.3(HMGCL):c.876+1G>C
|
rs779802353
|
|
NM_000191.3(HMGCL):c.914_915del (p.Phe305fs)
|
rs786205431
|
|
NM_000255.4(MMUT):c.88C>T (p.Gln30Ter)
|
rs879253824
|
|
NM_000282.4(PCCA):c.1288C>T (p.Arg430Ter)
|
rs776821944
|
|
NM_000282.4(PCCA):c.1477del (p.Arg493fs)
|
rs746733688
|
|
NM_000282.4(PCCA):c.1746+1G>A
|
rs2075369142
|
|
NM_000282.4(PCCA):c.2027del (p.Lys676fs)
|
rs1555327702
|
|
NM_000282.4(PCCA):c.2040G>A (p.Ala680=)
|
rs369982920
|
|
NM_000282.4(PCCA):c.2119-1G>C
|
|
|
NM_000282.4(PCCA):c.440del (p.Leu146_Ser147insTer)
|
rs1555361758
|
|
NM_000282.4(PCCA):c.446del (p.Asn149fs)
|
rs1206838893
|
|
NM_000282.4(PCCA):c.600+1G>A
|
rs879253802
|
|
NM_000282.4(PCCA):c.699G>A (p.Trp233Ter)
|
|
|
NM_000282.4(PCCA):c.69_78del (p.Gln23fs)
|
rs781030239
|
|
NM_000282.4(PCCA):c.722del (p.Gly241fs)
|
rs745571507
|
|
NM_000282.4(PCCA):c.915-1G>C
|
rs367615795
|
|
NM_000282.4(PCCA):c.923dup (p.Leu308fs)
|
rs573607437
|
|
NM_000282.4(PCCA):c.955C>T (p.Gln319Ter)
|
|
|
NM_000532.5(PCCB):c.1173dup (p.Val392fs)
|
rs587776758
|
|
NM_000532.5(PCCB):c.1199-2A>G
|
|
|
NM_000532.5(PCCB):c.1210G>A (p.Glu404Lys)
|
rs777027944
|
|
NM_000532.5(PCCB):c.1498+2T>C
|
rs879253816
|
|
NM_000532.5(PCCB):c.1534C>T (p.Arg512Cys)
|
rs186710233
|
|
NM_000532.5(PCCB):c.1540C>T (p.Arg514Ter)
|
rs749908889
|
|
NM_000532.5(PCCB):c.155_183+17del
|
rs1941483558
|
|
NM_000532.5(PCCB):c.184-2A>G
|
rs1553774015
|
|
NM_000532.5(PCCB):c.386_387delinsAAC (p.Phe129Ter)
|
rs398123463
|
|
NM_000532.5(PCCB):c.415C>T (p.Gln139Ter)
|
|
|
NM_000532.5(PCCB):c.457G>C (p.Ala153Pro)
|
rs202247819
|
|
NM_000532.5(PCCB):c.517_518del (p.Leu173fs)
|
rs755776820
|
|
NM_000532.5(PCCB):c.654+462A>G
|
rs1576327011
|
|
NM_000532.5(PCCB):c.838dup (p.Leu280fs)
|
rs769968548
|
|
NM_000532.5(PCCB):c.990dup (p.Glu331Ter)
|
rs786200983
|
|
NM_000532.5(PCCB):c.991G>T (p.Glu331Ter)
|
rs2108226567
|
|
NM_001243279.3(ACSF3):c.1401G>A (p.Trp467Ter)
|
rs1912700120
|
|
NM_001243279.3(ACSF3):c.1446_1447del (p.Tyr482_Lys483delinsTer)
|
rs1064793662
|
|
NM_001258392.3(CLPB):c.790C>T (p.Gln264Ter)
|
|
|
NM_001352514.2(HLCS):c.1151T>C (p.Leu384Pro)
|
rs119103227
|
|
NM_001352514.2(HLCS):c.1223del (p.Gly408fs)
|
rs771944310
|
|
NM_001352514.2(HLCS):c.1576C>T (p.Gln526Ter)
|
rs1393866282
|
|
NM_001352514.2(HLCS):c.2089G>A (p.Val697Met)
|
rs119103231
|
|
NM_001352514.2(HLCS):c.727del (p.Val243fs)
|
rs2146528200
|
|
NM_001370658.1(BTD):c.1030dup (p.Ile344fs)
|
|
|
NM_001370658.1(BTD):c.1098G>A (p.Trp366Ter)
|
rs397514434
|
|
NM_001370658.1(BTD):c.111T>G (p.Tyr37Ter)
|
rs397514339
|
|
NM_001370658.1(BTD):c.1167_1181delinsTTCCAATGGCC (p.Trp389fs)
|
rs672601248
|
|
NM_001370658.1(BTD):c.1181_1192del (p.Tyr394_Val397del)
|
rs397514404
|
|
NM_001370658.1(BTD):c.1211G>C (p.Cys404Ser)
|
rs397514335
|
|
NM_001370658.1(BTD):c.1254T>A (p.Tyr418Ter)
|
rs397514416
|
|
NM_001370658.1(BTD):c.1264del (p.Val422fs)
|
rs1057517362
|
|
NM_001370658.1(BTD):c.1292_1293del (p.Gly431fs)
|
rs1553654142
|
|
NM_001370658.1(BTD):c.1433dup (p.Leu478fs)
|
rs397514425
|
|
NM_001370658.1(BTD):c.1448_1452del (p.Gly483fs)
|
rs398123138
|
|
NM_001370658.1(BTD):c.1552C>A (p.Arg518Ser)
|
rs80338686
|
|
NM_001370658.1(BTD):c.202C>T (p.Gln68Ter)
|
rs151071780
|
|
NM_001370658.1(BTD):c.218A>G (p.Tyr73Cys)
|
rs397514348
|
|
NM_001370658.1(BTD):c.333del (p.Phe111fs)
|
rs397514356
|
|
NM_001370658.1(BTD):c.346del (p.Gln116fs)
|
rs1404904752
|
|
NM_001370658.1(BTD):c.359G>A (p.Trp120Ter)
|
rs2125486425
|
|
NM_001370658.1(BTD):c.38_44delinsTCC (p.Cys13fs)
|
rs80338684
|
|
NM_001370658.1(BTD):c.406C>T (p.Gln136Ter)
|
rs397514362
|
|
NM_001370658.1(BTD):c.527del (p.Thr176fs)
|
rs1553653680
|
|
NM_001370658.1(BTD):c.569A>G (p.Tyr190Cys)
|
rs397507174
|
|
NM_001370658.1(BTD):c.641C>T (p.Thr214Ile)
|
rs587783005
|
|
NM_001370658.1(BTD):c.755G>A (p.Trp252Ter)
|
rs148031701
|
|
NM_001370658.1(BTD):c.76G>T (p.Glu26Ter)
|
rs397514336
|
|
NM_001370658.1(BTD):c.772C>G (p.Leu258Val)
|
rs397514388
|
|
NM_001370658.1(BTD):c.946C>T (p.Gln316Ter)
|
|
|
NM_001370658.1(BTD):c.992del (p.Thr331fs)
|
rs397514398
|
|
NM_002225.5(IVD):c.1030G>A (p.Ala344Thr)
|
|
|
NM_002225.5(IVD):c.1179del (p.Leu394fs)
|
rs786204613
|
|
NM_002225.5(IVD):c.1183C>T (p.Arg395Ter)
|
rs398123681
|
|
NM_002225.5(IVD):c.1186G>C (p.Asp396His)
|
|
|
NM_002225.5(IVD):c.149G>C (p.Arg50Pro)
|
rs2229311
|
|
NM_002225.5(IVD):c.457-2A>G
|
rs771914739
|
|
NM_002225.5(IVD):c.506_507insT (p.Gly170fs)
|
|
|
NM_002225.5(IVD):c.870dup (p.Pro291fs)
|
rs759159766
|
|
NM_005050.4(ABCD4):c.1667_1668del (p.Glu556fs)
|
|
|
NM_005334.3(HCFC1):c.344C>T (p.Ala115Val)
|
rs397515485
|
|
NM_015506.3(MMACHC):c.123dup (p.Pro42fs)
|
rs2149323203
|
|
NM_015506.3(MMACHC):c.228_231del (p.Asp77fs)
|
|
|
NM_015506.3(MMACHC):c.276G>A (p.Glu92=)
|
rs556977618
|
|
NM_015506.3(MMACHC):c.285dup (p.Glu96fs)
|
rs1553162821
|
|
NM_015506.3(MMACHC):c.315C>A (p.Tyr105Ter)
|
rs528744719
|
|
NM_015506.3(MMACHC):c.315C>G (p.Tyr105Ter)
|
rs528744719
|
|
NM_015506.3(MMACHC):c.328_331del (p.Asn110fs)
|
rs796052000
|
|
NM_015506.3(MMACHC):c.347T>C (p.Leu116Pro)
|
rs121918240
|
|
NM_015506.3(MMACHC):c.352del (p.Gln118fs)
|
rs749264632
|
|
NM_015506.3(MMACHC):c.382TAC[2] (p.Tyr130del)
|
rs796051998
|
|
NM_015506.3(MMACHC):c.430-2A>G
|
|
|
NM_015506.3(MMACHC):c.440G>A (p.Gly147Asp)
|
rs140522266
|
|
NM_015506.3(MMACHC):c.445_446del (p.Cys149fs)
|
rs796051999
|
|
NM_015506.3(MMACHC):c.471G>A (p.Trp157Ter)
|
rs1002571805
|
|
NM_015506.3(MMACHC):c.497dup (p.Pro167fs)
|
rs1481893137
|
|
NM_015506.3(MMACHC):c.500del (p.Pro167fs)
|
rs1553162918
|
|
NM_015506.3(MMACHC):c.507_519del (p.Glu170fs)
|
rs1553162923
|
|
NM_015506.3(MMACHC):c.547_548del (p.Val183fs)
|
rs1305170860
|
|
NM_015506.3(MMACHC):c.551_554dup (p.Arg186fs)
|
rs1553162934
|
|
NM_015506.3(MMACHC):c.565C>A (p.Arg189Ser)
|
rs200895671
|
|
NM_015506.3(MMACHC):c.565del (p.Arg189fs)
|
rs1257204721
|
|
NM_015506.3(MMACHC):c.578T>C (p.Leu193Pro)
|
rs1233135084
|
|
NM_015506.3(MMACHC):c.599G>A (p.Trp200Ter)
|
rs1399932916
|
|
NM_015506.3(MMACHC):c.600G>A (p.Trp200Ter)
|
rs796051997
|
|
NM_015506.3(MMACHC):c.615C>G (p.Tyr205Ter)
|
rs747527726
|
|
NM_015506.3(MMACHC):c.619dup (p.Asp207fs)
|
rs765913293
|
|
NM_015506.3(MMACHC):c.626dup (p.Thr210fs)
|
rs1570833527
|
|
NM_015506.3(MMACHC):c.634del (p.Gln212fs)
|
|
|
NM_015506.3(MMACHC):c.658_660del (p.Lys220del)
|
rs398124296
|
|
NM_015506.3(MMACHC):c.81+1G>A
|
rs745366624
|
|
NM_015506.3(MMACHC):c.82-1G>A
|
rs1255179780
|
|
NM_015506.3(MMACHC):c.89G>A (p.Trp30Ter)
|
rs1570829502
|
|
NM_015506.3(MMACHC):c.90G>A (p.Trp30Ter)
|
rs771673343
|
|
NM_015702.3(MMADHC):c.160C>T (p.Arg54Ter)
|
rs118204047
|
|
NM_015702.3(MMADHC):c.202C>T (p.Gln68Ter)
|
|
|
NM_015702.3(MMADHC):c.472C>T (p.Arg158Ter)
|
rs886039425
|
|
NM_015702.3(MMADHC):c.57_64del (p.Cys19_Ser20insTer)
|
rs397509361
|
|
NM_018368.4(LMBRD1):c.515_516del (p.Thr172fs)
|
rs779151199
|
|
NM_020166.5(MCCC1):c.1074del (p.Trp358fs)
|
rs398124350
|
|
NM_020166.5(MCCC1):c.1193_1194del (p.Val398fs)
|
rs796051985
|
|
NM_020166.5(MCCC1):c.1263dup (p.Gln422fs)
|
rs762463137
|
|
NM_020166.5(MCCC1):c.1378-2A>G
|
|
|
NM_020166.5(MCCC1):c.1541dup (p.Leu515fs)
|
|
|
NM_020166.5(MCCC1):c.1679dup (p.Asn560fs)
|
rs1394547323
|
|
NM_020166.5(MCCC1):c.1750C>T (p.Gln584Ter)
|
|
|
NM_020166.5(MCCC1):c.1882G>T (p.Glu628Ter)
|
|
|
NM_020166.5(MCCC1):c.2088dup (p.Val697fs)
|
rs746267545
|
|
NM_020166.5(MCCC1):c.558del (p.Gln186fs)
|
rs1212517901
|
|
NM_020166.5(MCCC1):c.640_641delGG
|
rs886058209
|
|
NM_020166.5(MCCC1):c.673C>T (p.Gln225Ter)
|
rs779412317
|
|
NM_020166.5(MCCC1):c.945T>A (p.Tyr315Ter)
|
rs150862707
|
|
NM_022132.5(MCCC2):c.100C>T (p.Gln34Ter)
|
|
|
NM_022132.5(MCCC2):c.1144_1147inv (p.Lys382_Lys383delinsPheTer)
|
|
|
NM_022132.5(MCCC2):c.384-2A>G
|
rs1745476784
|
|
NM_022132.5(MCCC2):c.512-1G>A
|
rs1282502867
|
|
NM_022132.5(MCCC2):c.517dup (p.Ser173fs)
|
rs587776533
|
|
NM_022132.5(MCCC2):c.538C>T (p.Arg180Ter)
|
rs780011606
|
|
NM_022132.5(MCCC2):c.735dup (p.Val247fs)
|
rs770769655
|
|
NM_025136.4(OPA3):c.143-1G>C
|
rs80356523
|
|
NM_032861.4(SERAC1):c.438del (p.Thr147fs)
|
rs1583595091
|
|
NM_052845.4(MMAB):c.349-1G>C
|
rs864309510
|
|
NM_052845.4(MMAB):c.367del (p.Asp123fs)
|
rs1387128853
|
|
NM_052845.4(MMAB):c.454G>T (p.Glu152Ter)
|
rs557884699
|
|
NM_052845.4(MMAB):c.563_577dup (p.Val188_Ala192dup)
|
rs1555274496
|
|
NM_052845.4(MMAB):c.569G>A (p.Arg190His)
|
rs756414548
|
|
NM_172250.3(MMAA):c.260_267dup (p.Tyr90fs)
|
|
|
NM_172250.3(MMAA):c.358C>T (p.Gln120Ter)
|
rs864309727
|
|
NM_172250.3(MMAA):c.450dup (p.Pro151fs)
|
rs754973022
|
|
NM_172250.3(MMAA):c.54del (p.Ala19fs)
|
|
|
NM_172250.3(MMAA):c.551dup (p.Cys184fs)
|
rs1553958159
|
|
NM_172250.3(MMAA):c.593_596del (p.Thr198fs)
|
rs796051993
|
|
NM_172250.3(MMAA):c.650T>A (p.Leu217Ter)
|
rs140356252
|
|
NM_172250.3(MMAA):c.820-1G>A
|
rs1553959017
|
|