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_001258392.3(CLPB):c.1792C>T (p.Arg598Cys)
|
rs150343959
|
0.00133
|
NM_015506.3(MMACHC):c.271dup (p.Arg91fs)
|
rs398124292
|
0.00093
|
NM_207346.3(TSEN54):c.919G>T (p.Ala307Ser)
|
rs113994152
|
0.00092
|
NM_000282.4(PCCA):c.1676G>T (p.Trp559Leu)
|
rs118169528
|
0.00088
|
NM_002225.5(IVD):c.932C>T (p.Ala311Val)
|
rs28940889
|
0.00077
|
NM_001243279.3(ACSF3):c.1075G>A (p.Glu359Lys)
|
rs150487794
|
0.00071
|
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_022132.5(MCCC2):c.995G>A (p.Arg332Gln)
|
rs144203670
|
0.00045
|
NM_001370658.1(BTD):c.451G>A (p.Ala151Thr)
|
rs13073139
|
0.00039
|
NM_001609.4(ACADSB):c.303+1G>A
|
rs147936696
|
0.00037
|
NM_001609.4(ACADSB):c.375dup (p.Glu126fs)
|
rs756587384
|
0.00037
|
NM_015506.3(MMACHC):c.440G>C (p.Gly147Ala)
|
rs140522266
|
0.00034
|
NM_014384.3(ACAD8):c.466G>T (p.Ala156Ser)
|
rs201273972
|
0.00030
|
NM_001081.4(CUBN):c.3890C>T (p.Pro1297Leu)
|
rs121434430
|
0.00027
|
NM_001609.4(ACADSB):c.1159G>A (p.Glu387Lys)
|
rs188094280
|
0.00026
|
NM_001258392.3(CLPB):c.1132A>G (p.Arg378Gly)
|
rs144078282
|
0.00025
|
NM_001370658.1(BTD):c.1569C>A (p.Asp523Glu)
|
rs146136265
|
0.00024
|
NM_001243279.3(ACSF3):c.728C>T (p.Pro243Leu)
|
rs140986055
|
0.00022
|
NM_001370658.1(BTD):c.-148C>T
|
rs774964227
|
0.00022
|
NM_145261.4(DNAJC19):c.300del (p.Ala101fs)
|
rs587777224
|
0.00022
|
NM_000255.4(MMUT):c.2150G>T (p.Gly717Val)
|
rs121918252
|
0.00021
|
NM_001081.4(CUBN):c.5428C>T (p.Arg1810Ter)
|
rs143944436
|
0.00019
|
NM_001243279.3(ACSF3):c.1411C>T (p.Arg471Trp)
|
rs138680796
|
0.00019
|
NM_014384.3(ACAD8):c.958G>A (p.Ala320Thr)
|
rs200620279
|
0.00019
|
NM_015506.3(MMACHC):c.617G>A (p.Arg206Gln)
|
rs371753672
|
0.00017
|
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_014384.3(ACAD8):c.784G>A (p.Glu262Lys)
|
rs368653287
|
0.00016
|
NM_022132.5(MCCC2):c.1208A>G (p.Asn403Ser)
|
rs142887940
|
0.00016
|
NM_022132.5(MCCC2):c.1423G>A (p.Gly475Arg)
|
rs148773718
|
0.00015
|
NM_001370658.1(BTD):c.1372G>A (p.Ala458Thr)
|
rs181396238
|
0.00014
|
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.40_41del (p.Gly14fs)
|
rs765906887
|
0.00012
|
NM_001698.3(AUH):c.721C>T (p.Arg241Ter)
|
rs200212229
|
0.00012
|
NM_000255.4(MMUT):c.2026G>A (p.Ala676Thr)
|
rs147715336
|
0.00011
|
NM_001370658.1(BTD):c.1429C>T (p.Pro477Ser)
|
rs138818907
|
0.00011
|
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_001370658.1(BTD):c.1395C>G (p.His465Gln)
|
rs201604102
|
0.00009
|
NM_005050.4(ABCD4):c.956A>G (p.Tyr319Cys)
|
rs201777056
|
0.00009
|
NM_001609.4(ACADSB):c.621G>A (p.Trp207Ter)
|
rs374420253
|
0.00008
|
NM_020166.5(MCCC1):c.1155A>C (p.Arg385Ser)
|
rs119103213
|
0.00008
|
NM_000282.4(PCCA):c.1284+1G>A
|
rs752761437
|
0.00007
|
NM_001081.4(CUBN):c.1010C>T (p.Pro337Leu)
|
rs202153130
|
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_014384.3(ACAD8):c.455T>C (p.Met152Thr)
|
rs121908418
|
0.00007
|
NM_015506.3(MMACHC):c.482G>A (p.Arg161Gln)
|
rs121918243
|
0.00007
|
NM_020166.5(MCCC1):c.1303G>A (p.Ala435Thr)
|
rs142507365
|
0.00007
|
NM_052845.4(MMAB):c.521C>T (p.Ser174Leu)
|
rs140881518
|
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_000255.4(MMUT):c.1106G>A (p.Arg369His)
|
rs564069299
|
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_032861.4(SERAC1):c.1159C>T (p.Arg387Ter)
|
rs1220930025
|
0.00006
|
NM_000255.4(MMUT):c.1207C>T (p.Arg403Ter)
|
rs727504020
|
0.00005
|
NM_000532.5(PCCB):c.683C>T (p.Pro228Leu)
|
rs374722096
|
0.00005
|
NM_001243279.3(ACSF3):c.246del (p.Cys83fs)
|
rs772073893
|
0.00005
|
NM_001370658.1(BTD):c.565C>T (p.Arg189Cys)
|
rs369102875
|
0.00005
|
NM_001698.3(AUH):c.991A>T (p.Lys331Ter)
|
rs387906757
|
0.00005
|
NM_020166.5(MCCC1):c.1114C>T (p.Gln372Ter)
|
rs544349961
|
0.00005
|
NM_052845.4(MMAB):c.562G>A (p.Val188Met)
|
rs768176676
|
0.00005
|
NM_000019.4(ACAT1):c.444_445del (p.Met148fs)
|
rs727503795
|
0.00004
|
NM_000019.4(ACAT1):c.473A>G (p.Asn158Ser)
|
rs199524907
|
0.00004
|
NM_000019.4(ACAT1):c.623G>A (p.Arg208Gln)
|
rs370720208
|
0.00004
|
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_000255.4(MMUT):c.1105C>T (p.Arg369Cys)
|
rs772552898
|
0.00004
|
NM_000255.4(MMUT):c.278G>A (p.Arg93His)
|
rs121918251
|
0.00004
|
NM_000255.4(MMUT):c.280G>A (p.Gly94Arg)
|
rs727504022
|
0.00004
|
NM_000255.4(MMUT):c.572C>A (p.Ala191Glu)
|
rs760782399
|
0.00004
|
NM_000255.4(MMUT):c.850G>T (p.Gly284Ter)
|
rs761477436
|
0.00004
|
NM_000402.4(G6PD):c.1039G>A (p.Glu347Lys)
|
rs137852339
|
0.00004
|
NM_000532.5(PCCB):c.1229G>A (p.Arg410Gln)
|
rs778742647
|
0.00004
|
NM_001243279.3(ACSF3):c.1470G>C (p.Glu490Asp)
|
rs147538370
|
0.00004
|
NM_001243279.3(ACSF3):c.348G>A (p.Trp116Ter)
|
rs757905943
|
0.00004
|
NM_001243279.3(ACSF3):c.451G>T (p.Glu151Ter)
|
rs752338222
|
0.00004
|
NM_001243279.3(ACSF3):c.781G>T (p.Gly261Ter)
|
rs746877433
|
0.00004
|
NM_001258392.3(CLPB):c.1293dup (p.Asp432fs)
|
rs774722200
|
0.00004
|
NM_001352514.2(HLCS):c.2260dup (p.Ser754fs)
|
rs766163167
|
0.00004
|
NM_001352514.2(HLCS):c.2341G>A (p.Asp781Asn)
|
rs149399432
|
0.00004
|
NM_001352514.2(HLCS):c.2434C>T (p.Arg812Ter)
|
rs146448211
|
0.00004
|
NM_001370658.1(BTD):c.1301A>G (p.Tyr434Cys)
|
rs397514345
|
0.00004
|
NM_001370658.1(BTD):c.873del (p.Ser291fs)
|
rs397514395
|
0.00004
|
NM_001609.4(ACADSB):c.1165A>G (p.Met389Val)
|
rs201877440
|
0.00004
|
NM_001698.3(AUH):c.824C>T (p.Ala275Val)
|
rs748318386
|
0.00004
|
NM_002225.5(IVD):c.1174C>T (p.Arg392Cys)
|
rs371427844
|
0.00004
|
NM_002225.5(IVD):c.1232G>A (p.Arg411Gln)
|
rs143348838
|
0.00004
|
NM_002225.5(IVD):c.287-1G>A
|
rs1398838997
|
0.00004
|
NM_014384.3(ACAD8):c.409G>A (p.Gly137Arg)
|
rs371449613
|
0.00004
|
NM_020166.5(MCCC1):c.1331G>A (p.Arg444His)
|
rs768785753
|
0.00004
|
NM_022132.5(MCCC2):c.1309A>G (p.Ile437Val)
|
rs119103224
|
0.00004
|
NM_022132.5(MCCC2):c.1690T>C (p.Ter564Gln)
|
rs751970792
|
0.00004
|
NM_022132.5(MCCC2):c.518C>T (p.Ser173Leu)
|
rs752866557
|
0.00004
|
NM_022132.5(MCCC2):c.577C>T (p.Arg193Cys)
|
rs547662164
|
0.00004
|
NM_030813.6(CLPB):c.703G>T (p.Glu235Ter)
|
rs374473067
|
0.00004
|
NM_030943.4(AMN):c.208-2A>G
|
rs386834170
|
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_181697.3(PRDX1):c.515-1G>T
|
rs751828470
|
0.00004
|
NM_000019.4(ACAT1):c.1006-2A>C
|
rs145229472
|
0.00003
|
NM_000019.4(ACAT1):c.1163+2T>C
|
rs1280110907
|
0.00003
|
NM_000019.4(ACAT1):c.951C>T (p.Asp317=)
|
rs747714452
|
0.00003
|
NM_000191.3(HMGCL):c.208G>C (p.Val70Leu)
|
rs121964996
|
0.00003
|
NM_000255.4(MMUT):c.1399C>T (p.Arg467Ter)
|
rs774159791
|
0.00003
|
NM_000255.4(MMUT):c.1677-1G>A
|
rs754369323
|
0.00003
|
NM_000255.4(MMUT):c.1867G>A (p.Gly623Arg)
|
rs121918254
|
0.00003
|
NM_000255.4(MMUT):c.1889G>A (p.Gly630Glu)
|
rs143023066
|
0.00003
|
NM_000255.4(MMUT):c.330T>G (p.Tyr110Ter)
|
rs879253826
|
0.00003
|
NM_000255.4(MMUT):c.655A>T (p.Asn219Tyr)
|
rs121918256
|
0.00003
|
NM_000255.4(MMUT):c.682C>T (p.Arg228Ter)
|
rs200596762
|
0.00003
|
NM_000255.4(MMUT):c.91C>T (p.Arg31Ter)
|
rs398123278
|
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_001258392.3(CLPB):c.1159C>T (p.Arg387Ter)
|
rs200203460
|
0.00003
|
NM_001258392.3(CLPB):c.1760A>G (p.Tyr587Cys)
|
rs786205138
|
0.00003
|
NM_001258392.3(CLPB):c.713C>T (p.Thr238Met)
|
rs200032855
|
0.00003
|
NM_001258392.3(CLPB):c.934C>T (p.Arg312Ter)
|
rs185461628
|
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_001352514.2(HLCS):c.2121+1G>A
|
rs1175936807
|
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.581A>G (p.Asn194Ser)
|
rs397514377
|
0.00003
|
NM_001370658.1(BTD):c.908A>G (p.His303Arg)
|
rs397507176
|
0.00003
|
NM_001698.3(AUH):c.589C>T (p.Arg197Ter)
|
rs121434636
|
0.00003
|
NM_001698.3(AUH):c.80del (p.Ser27fs)
|
rs730880310
|
0.00003
|
NM_001698.3(AUH):c.943-2A>G
|
rs730880312
|
0.00003
|
NM_002225.5(IVD):c.1175G>A (p.Arg392His)
|
rs982218848
|
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_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_032861.4(SERAC1):c.1493G>C (p.Ser498Thr)
|
rs201941476
|
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_000191.3(HMGCL):c.27del (p.Arg10fs)
|
rs1409716731
|
0.00002
|
NM_000255.4(MMUT):c.1084-10A>G
|
rs777031588
|
0.00002
|
NM_000255.4(MMUT):c.1531C>T (p.Arg511Ter)
|
rs761525156
|
0.00002
|
NM_000255.4(MMUT):c.1741C>T (p.Arg581Ter)
|
rs1238694184
|
0.00002
|
NM_000255.4(MMUT):c.52C>T (p.Gln18Ter)
|
rs121918248
|
0.00002
|
NM_000255.4(MMUT):c.983T>C (p.Leu328Pro)
|
rs965316043
|
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_000532.5(PCCB):c.836C>T (p.Pro279Leu)
|
rs780837200
|
0.00002
|
NM_001081.4(CUBN):c.10233G>A (p.Trp3411Ter)
|
rs144484373
|
0.00002
|
NM_001081.4(CUBN):c.6359G>A (p.Trp2120Ter)
|
rs566060177
|
0.00002
|
NM_001243279.3(ACSF3):c.1535G>A (p.Trp512Ter)
|
rs1450563045
|
0.00002
|
NM_001243279.3(ACSF3):c.1608G>A (p.Trp536Ter)
|
rs201954387
|
0.00002
|
NM_001243279.3(ACSF3):c.238C>T (p.Gln80Ter)
|
rs138156311
|
0.00002
|
NM_001243279.3(ACSF3):c.424C>T (p.Gln142Ter)
|
rs142575695
|
0.00002
|
NM_001243279.3(ACSF3):c.576G>A (p.Trp192Ter)
|
rs771558691
|
0.00002
|
NM_001243279.3(ACSF3):c.689G>A (p.Trp230Ter)
|
rs145583876
|
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.1147T>G (p.Phe383Val)
|
rs104893686
|
0.00002
|
NM_001370658.1(BTD):c.1406A>C (p.Asn469Thr)
|
rs104893692
|
0.00002
|
NM_001370658.1(BTD):c.468G>T (p.Lys156Asn)
|
rs397514367
|
0.00002
|
NM_001370658.1(BTD):c.497G>A (p.Cys166Tyr)
|
rs397514369
|
0.00002
|
NM_001609.4(ACADSB):c.763C>T (p.Leu255Phe)
|
rs137852649
|
0.00002
|
NM_001698.3(AUH):c.505+1G>C
|
rs773652620
|
0.00002
|
NM_002225.5(IVD):c.1123G>A (p.Gly375Ser)
|
rs544110604
|
0.00002
|
NM_002225.5(IVD):c.205G>A (p.Asp69Asn)
|
rs747273828
|
0.00002
|
NM_002225.5(IVD):c.865G>A (p.Gly289Arg)
|
rs568885234
|
0.00002
|
NM_014384.3(ACAD8):c.905G>A (p.Arg302Gln)
|
rs121908422
|
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_018368.4(LMBRD1):c.1339-1G>T
|
rs768709895
|
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.1574+1G>A
|
rs730880265
|
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.202C>T (p.Arg68Ter)
|
rs529232938
|
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.548A>T (p.His183Leu)
|
rs752866643
|
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.1136G>T (p.Gly379Val)
|
rs120074143
|
0.00001
|
NM_000019.4(ACAT1):c.1160T>C (p.Ile387Thr)
|
rs748303093
|
0.00001
|
NM_000019.4(ACAT1):c.1163+1G>A
|
rs1423476705
|
0.00001
|
NM_000019.4(ACAT1):c.1189C>A (p.His397Asn)
|
rs746332363
|
0.00001
|
NM_000019.4(ACAT1):c.1A>G (p.Met1Val)
|
rs1305448140
|
0.00001
|
NM_000019.4(ACAT1):c.30del (p.Ser10fs)
|
rs1565281236
|
0.00001
|
NM_000019.4(ACAT1):c.377G>C (p.Cys126Ser)
|
rs1278227329
|
0.00001
|
NM_000019.4(ACAT1):c.380C>T (p.Ala127Val)
|
rs1591363760
|
0.00001
|
NM_000019.4(ACAT1):c.433C>G (p.Gln145Glu)
|
rs120074148
|
0.00001
|
NM_000019.4(ACAT1):c.472A>G (p.Asn158Asp)
|
rs148639841
|
0.00001
|
NM_000019.4(ACAT1):c.749del (p.Val250fs)
|
rs1565293957
|
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.935T>C (p.Ile312Thr)
|
rs120074146
|
0.00001
|
NM_000019.4(ACAT1):c.949G>A (p.Asp317Asn)
|
rs780486838
|
0.00001
|
NM_000019.4(ACAT1):c.997G>C (p.Ala333Pro)
|
rs120074147
|
0.00001
|
NM_000019.4(ACAT1):c.99T>A (p.Tyr33Ter)
|
rs1469248513
|
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_000255.4(MMUT):c.1084-2A>G
|
rs879253839
|
0.00001
|
NM_000255.4(MMUT):c.1130C>A (p.Ala377Glu)
|
rs121918250
|
0.00001
|
NM_000255.4(MMUT):c.1243G>T (p.Glu415Ter)
|
rs748129702
|
0.00001
|
NM_000255.4(MMUT):c.1280G>A (p.Gly427Asp)
|
rs753288303
|
0.00001
|
NM_000255.4(MMUT):c.1287C>G (p.Tyr429Ter)
|
rs1346775255
|
0.00001
|
NM_000255.4(MMUT):c.1420C>T (p.Arg474Ter)
|
rs887126161
|
0.00001
|
NM_000255.4(MMUT):c.1481T>A (p.Leu494Ter)
|
rs764173488
|
0.00001
|
NM_000255.4(MMUT):c.1560+1G>T
|
rs200019422
|
0.00001
|
NM_000255.4(MMUT):c.1846C>T (p.Arg616Cys)
|
rs765284825
|
0.00001
|
NM_000255.4(MMUT):c.1957-2A>G
|
rs1554158379
|
0.00001
|
NM_000255.4(MMUT):c.2080C>T (p.Arg694Trp)
|
rs777758903
|
0.00001
|
NM_000255.4(MMUT):c.2179C>T (p.Arg727Ter)
|
rs779990936
|
0.00001
|
NM_000255.4(MMUT):c.2206C>T (p.Leu736Phe)
|
rs753461919
|
0.00001
|
NM_000255.4(MMUT):c.281G>T (p.Gly94Val)
|
rs535411418
|
0.00001
|
NM_000255.4(MMUT):c.313T>C (p.Trp105Arg)
|
rs121918249
|
0.00001
|
NM_000255.4(MMUT):c.322C>T (p.Arg108Cys)
|
rs121918257
|
0.00001
|
NM_000255.4(MMUT):c.323G>A (p.Arg108His)
|
rs483352778
|
0.00001
|
NM_000255.4(MMUT):c.454C>T (p.Arg152Ter)
|
rs780068818
|
0.00001
|
NM_000255.4(MMUT):c.607G>A (p.Gly203Arg)
|
rs778702777
|
0.00001
|
NM_000255.4(MMUT):c.753+1G>A
|
rs1028877309
|
0.00001
|
NM_000255.4(MMUT):c.890C>T (p.Thr297Ile)
|
rs547709692
|
0.00001
|
NM_000282.4(PCCA):c.1118T>A (p.Met373Lys)
|
rs121964958
|
0.00001
|
NM_000282.4(PCCA):c.1181G>A (p.Trp394Ter)
|
rs1165198558
|
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.1268C>T (p.Pro423Leu)
|
rs1443858896
|
0.00001
|
NM_000282.4(PCCA):c.1426C>T (p.Arg476Ter)
|
rs768703749
|
0.00001
|
NM_000282.4(PCCA):c.1430G>T (p.Gly477Val)
|
rs776355907
|
0.00001
|
NM_000282.4(PCCA):c.1540+1G>C
|
rs199604072
|
0.00001
|
NM_000282.4(PCCA):c.1746G>A (p.Ser582=)
|
rs192171304
|
0.00001
|
NM_000282.4(PCCA):c.1788G>A (p.Trp596Ter)
|
rs776496862
|
0.00001
|
NM_000282.4(PCCA):c.1855C>T (p.Arg619Ter)
|
rs1194679272
|
0.00001
|
NM_000282.4(PCCA):c.2002G>A (p.Gly668Arg)
|
rs771438170
|
0.00001
|
NM_000282.4(PCCA):c.2041-2A>G
|
rs776281864
|
0.00001
|
NM_000282.4(PCCA):c.2056G>T (p.Glu686Ter)
|
rs1241896966
|
0.00001
|
NM_000282.4(PCCA):c.2119-9A>G
|
rs1389933015
|
0.00001
|
NM_000282.4(PCCA):c.230G>A (p.Arg77Gln)
|
rs1387778734
|
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.451G>T (p.Glu151Ter)
|
rs2053984648
|
0.00001
|
NM_000282.4(PCCA):c.688C>T (p.Arg230Cys)
|
rs778530330
|
0.00001
|
NM_000282.4(PCCA):c.863G>A (p.Arg288Lys)
|
rs879253810
|
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.1309G>A (p.Gly437Ser)
|
rs1349202366
|
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.1556T>C (p.Leu519Pro)
|
rs202247822
|
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.371del (p.Gln124fs)
|
rs1481849460
|
0.00001
|
NM_000532.5(PCCB):c.3G>A (p.Met1Ile)
|
rs398123464
|
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.733G>A (p.Gly245Ser)
|
rs756414710
|
0.00001
|
NM_000532.5(PCCB):c.825dup (p.Asn276fs)
|
rs748393514
|
0.00001
|
NM_000532.5(PCCB):c.942C>A (p.Tyr314Ter)
|
rs572246667
|
0.00001
|
NM_001001563.5(TIMM50):c.340C>T (p.Arg114Trp)
|
rs1300848445
|
0.00001
|
NM_001001563.5(TIMM50):c.341G>A (p.Arg114Gln)
|
rs778355943
|
0.00001
|
NM_001001563.5(TIMM50):c.664G>A (p.Ala222Thr)
|
rs1305711807
|
0.00001
|
NM_001001563.5(TIMM50):c.715C>T (p.Arg239Trp)
|
rs1449758112
|
0.00001
|
NM_001081.4(CUBN):c.1865del (p.Thr622fs)
|
rs386833771
|
0.00001
|
NM_001081.4(CUBN):c.8463G>A (p.Trp2821Ter)
|
rs759203841
|
0.00001
|
NM_001243279.3(ACSF3):c.1300C>T (p.Arg434Ter)
|
rs766764090
|
0.00001
|
NM_001243279.3(ACSF3):c.1310G>A (p.Trp437Ter)
|
rs1243213118
|
0.00001
|
NM_001243279.3(ACSF3):c.1329dup (p.Lys444Ter)
|
rs776995095
|
0.00001
|
NM_001243279.3(ACSF3):c.1405C>T (p.Arg469Ter)
|
rs748382994
|
0.00001
|
NM_001243279.3(ACSF3):c.1412G>A (p.Arg471Gln)
|
rs387907119
|
0.00001
|
NM_001243279.3(ACSF3):c.1536G>A (p.Trp512Ter)
|
rs1025201214
|
0.00001
|
NM_001243279.3(ACSF3):c.1567C>T (p.Arg523Ter)
|
rs387907118
|
0.00001
|
NM_001243279.3(ACSF3):c.1580C>G (p.Ser527Ter)
|
rs1457774840
|
0.00001
|
NM_001243279.3(ACSF3):c.1613+1G>A
|
rs770400253
|
0.00001
|
NM_001243279.3(ACSF3):c.305del (p.Cys102fs)
|
rs760759040
|
0.00001
|
NM_001243279.3(ACSF3):c.408T>A (p.Tyr136Ter)
|
rs1313088429
|
0.00001
|
NM_001243279.3(ACSF3):c.666+1G>A
|
rs1336382616
|
0.00001
|
NM_001243279.3(ACSF3):c.817C>T (p.Gln273Ter)
|
rs749538361
|
0.00001
|
NM_001243279.3(ACSF3):c.827G>A (p.Trp276Ter)
|
rs759338401
|
0.00001
|
NM_001243279.3(ACSF3):c.866del (p.Val289fs)
|
rs758740850
|
0.00001
|
NM_001258392.3(CLPB):c.1143G>A (p.Met381Ile)
|
rs786205137
|
0.00001
|
NM_001258392.3(CLPB):c.532C>T (p.Arg178Ter)
|
rs774185980
|
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.2361_2362insT (p.Val788fs)
|
rs760372711
|
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.1193G>C (p.Cys398Ser)
|
rs397514410
|
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.1274G>T (p.Gly425Val)
|
rs397514402
|
0.00001
|
NM_001370658.1(BTD):c.1324del (p.Arg442fs)
|
rs397514420
|
0.00001
|
NM_001370658.1(BTD):c.1543C>G (p.Leu515Val)
|
rs771537277
|
0.00001
|
NM_001370658.1(BTD):c.1553G>A (p.Arg518His)
|
rs397514429
|
0.00001
|
NM_001370658.1(BTD):c.1559A>G (p.Tyr520Cys)
|
rs397514431
|
0.00001
|
NM_001370658.1(BTD):c.175C>T (p.Arg59Cys)
|
rs104893687
|
0.00001
|
NM_001370658.1(BTD):c.176G>A (p.Arg59His)
|
rs397514343
|
0.00001
|
NM_001370658.1(BTD):c.197T>G (p.Met66Arg)
|
rs587783002
|
0.00001
|
NM_001370658.1(BTD):c.250-15del
|
rs587783008
|
0.00001
|
NM_001370658.1(BTD):c.281G>T (p.Gly94Val)
|
rs375712490
|
0.00001
|
NM_001370658.1(BTD):c.320C>T (p.Pro107Leu)
|
rs575787457
|
0.00001
|
NM_001370658.1(BTD):c.360G>A (p.Trp120Ter)
|
rs1306944669
|
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.523A>G (p.Asn175Asp)
|
rs397514370
|
0.00001
|
NM_001370658.1(BTD):c.571C>T (p.Arg191Cys)
|
rs372844636
|
0.00001
|
NM_001370658.1(BTD):c.572G>A (p.Arg191His)
|
rs112195009
|
0.00001
|
NM_001370658.1(BTD):c.577del (p.His193fs)
|
rs780874850
|
0.00001
|
NM_001370658.1(BTD):c.583C>T (p.Leu195Phe)
|
rs190386869
|
0.00001
|
NM_001370658.1(BTD):c.649G>A (p.Ala217Thr)
|
rs397514381
|
0.00001
|
NM_001370658.1(BTD):c.674G>A (p.Cys225Tyr)
|
rs397507175
|
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.754T>G (p.Trp252Gly)
|
rs397514387
|
0.00001
|
NM_001370658.1(BTD):c.875G>A (p.Gly292Asp)
|
rs377651057
|
0.00001
|
NM_001370658.1(BTD):c.941_942del (p.Ile314fs)
|
rs749162799
|
0.00001
|
NM_001609.4(ACADSB):c.1228G>A (p.Gly410Ser)
|
rs387906409
|
0.00001
|
NM_001609.4(ACADSB):c.295C>T (p.Gln99Ter)
|
rs760791287
|
0.00001
|
NM_001609.4(ACADSB):c.303+3A>G
|
rs1345480688
|
0.00001
|
NM_001609.4(ACADSB):c.655G>A (p.Val219Met)
|
rs553730391
|
0.00001
|
NM_001698.3(AUH):c.263-2A>G
|
rs730880311
|
0.00001
|
NM_002225.5(IVD):c.1108C>T (p.Gln370Ter)
|
rs368705240
|
0.00001
|
NM_002225.5(IVD):c.1112T>C (p.Val371Ala)
|
rs754600862
|
0.00001
|
NM_002225.5(IVD):c.1138+1G>A
|
rs1193235415
|
0.00001
|
NM_002225.5(IVD):c.1184G>A (p.Arg395Gln)
|
rs1477527791
|
0.00001
|
NM_002225.5(IVD):c.1199A>G (p.Tyr400Cys)
|
rs773560012
|
0.00001
|
NM_002225.5(IVD):c.1205T>C (p.Ile402Thr)
|
rs763422682
|
0.00001
|
NM_002225.5(IVD):c.1206del (p.Ile402fs)
|
rs1595797766
|
0.00001
|
NM_002225.5(IVD):c.1231C>T (p.Arg411Trp)
|
rs1237032588
|
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.784+1G>A
|
rs763471771
|
0.00001
|
NM_002225.5(IVD):c.890C>T (p.Ala297Val)
|
rs796051983
|
0.00001
|
NM_005050.4(ABCD4):c.423C>G (p.Asn141Lys)
|
rs776529140
|
0.00001
|
NM_005050.4(ABCD4):c.542+1G>T
|
rs769364566
|
0.00001
|
NM_013247.5(HTRA2):c.1211G>A (p.Arg404Gln)
|
rs767006508
|
0.00001
|
NM_014362.4(HIBCH):c.196C>T (p.Arg66Trp)
|
rs757976755
|
0.00001
|
NM_014362.4(HIBCH):c.220-9T>G
|
rs786200864
|
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_014362.4(HIBCH):c.763C>T (p.Arg255Ter)
|
rs1248460683
|
0.00001
|
NM_014362.4(HIBCH):c.79-3C>G
|
rs778922921
|
0.00001
|
NM_014384.3(ACAD8):c.1000C>T (p.Arg334Cys)
|
rs778823613
|
0.00001
|
NM_014384.3(ACAD8):c.286G>A (p.Gly96Ser)
|
rs773472208
|
0.00001
|
NM_014384.3(ACAD8):c.988C>T (p.Arg330Trp)
|
rs121908420
|
0.00001
|
NM_015506.3(MMACHC):c.1A>G (p.Met1Val)
|
rs758477536
|
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.384del (p.Tyr129fs)
|
rs1347498294
|
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.3G>A (p.Met1Ile)
|
rs779893448
|
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_015702.3(MMADHC):c.154+1G>A
|
rs1385597423
|
0.00001
|
NM_015702.3(MMADHC):c.746A>G (p.Tyr249Cys)
|
rs118204046
|
0.00001
|
NM_018368.4(LMBRD1):c.1156C>T (p.Arg386Ter)
|
rs1380343985
|
0.00001
|
NM_020166.5(MCCC1):c.1074G>A (p.Trp358Ter)
|
rs367625370
|
0.00001
|
NM_020166.5(MCCC1):c.1225C>T (p.Arg409Ter)
|
rs1484347924
|
0.00001
|
NM_020166.5(MCCC1):c.1261C>T (p.Arg421Trp)
|
rs764744442
|
0.00001
|
NM_020166.5(MCCC1):c.1268-1G>A
|
rs1191868168
|
0.00001
|
NM_020166.5(MCCC1):c.1315G>A (p.Val439Met)
|
rs398124352
|
0.00001
|
NM_020166.5(MCCC1):c.1483C>T (p.Gln495Ter)
|
rs1713700813
|
0.00001
|
NM_020166.5(MCCC1):c.313C>T (p.Gln105Ter)
|
rs1163620394
|
0.00001
|
NM_020166.5(MCCC1):c.343C>T (p.Gln115Ter)
|
rs920162850
|
0.00001
|
NM_020166.5(MCCC1):c.539G>T (p.Gly180Val)
|
rs748201122
|
0.00001
|
NM_020166.5(MCCC1):c.639+2T>A
|
rs199914879
|
0.00001
|
NM_020166.5(MCCC1):c.804del (p.Val269fs)
|
rs1307113234
|
0.00001
|
NM_020166.5(MCCC1):c.863A>G (p.Glu288Gly)
|
rs746500530
|
0.00001
|
NM_020166.5(MCCC1):c.872del (p.Ala291fs)
|
rs748269732
|
0.00001
|
NM_020166.5(MCCC1):c.980C>G (p.Ser327Ter)
|
rs750484977
|
0.00001
|
NM_022132.5(MCCC2):c.1054G>A (p.Gly352Arg)
|
rs765438239
|
0.00001
|
NM_022132.5(MCCC2):c.1064T>A (p.Leu355Ter)
|
rs751393852
|
0.00001
|
NM_022132.5(MCCC2):c.1412_1413del (p.Ser471fs)
|
rs780304038
|
0.00001
|
NM_022132.5(MCCC2):c.1441G>A (p.Val481Met)
|
rs767575019
|
0.00001
|
NM_022132.5(MCCC2):c.1623G>T (p.Leu541Phe)
|
rs753443203
|
0.00001
|
NM_022132.5(MCCC2):c.230C>G (p.Ser77Ter)
|
rs1304896406
|
0.00001
|
NM_022132.5(MCCC2):c.464G>A (p.Arg155Gln)
|
rs119103220
|
0.00001
|
NM_022132.5(MCCC2):c.499T>C (p.Cys167Arg)
|
rs119103222
|
0.00001
|
NM_022132.5(MCCC2):c.506A>G (p.Tyr169Cys)
|
rs1580281124
|
0.00001
|
NM_022132.5(MCCC2):c.562C>T (p.Arg188Ter)
|
rs774180632
|
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_025136.4(OPA3):c.52C>T (p.Gln18Ter)
|
rs1568413644
|
0.00001
|
NM_030813.6(CLPB):c.690G>A (p.Trp230Ter)
|
rs780554501
|
0.00001
|
NM_032861.4(SERAC1):c.1102C>T (p.Arg368Ter)
|
rs758745099
|
0.00001
|
NM_032861.4(SERAC1):c.1126C>T (p.Gln376Ter)
|
rs199632531
|
0.00001
|
NM_032861.4(SERAC1):c.262_265dup (p.Gly89fs)
|
rs797045105
|
0.00001
|
NM_032861.4(SERAC1):c.916C>T (p.Arg306Ter)
|
rs780664696
|
0.00001
|
NM_052845.4(MMAB):c.197-1G>T
|
rs763935916
|
0.00001
|
NM_052845.4(MMAB):c.380C>A (p.Ala127Asp)
|
rs778169806
|
0.00001
|
NM_052845.4(MMAB):c.523G>T (p.Gly175Ter)
|
rs758790126
|
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.625G>A (p.Val209Met)
|
rs200903284
|
0.00001
|
NM_145261.4(DNAJC19):c.130-1G>C
|
rs137854888
|
0.00001
|
NM_145261.4(DNAJC19):c.62dup (p.Tyr21Ter)
|
rs1560040369
|
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.365T>C (p.Leu122Pro)
|
rs760875006
|
0.00001
|
NM_172250.3(MMAA):c.434G>A (p.Arg145Gln)
|
rs200577967
|
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.651dup (p.Gly218fs)
|
rs1314623572
|
0.00001
|
NM_172250.3(MMAA):c.733+1G>A
|
rs779939886
|
0.00001
|
NM_172250.3(MMAA):c.742C>T (p.Gln248Ter)
|
rs757548934
|
0.00001
|
NM_172250.3(MMAA):c.756del (p.Val253fs)
|
rs1489525542
|
0.00001
|
NM_172250.3(MMAA):c.833G>A (p.Gly278Asp)
|
rs761964238
|
0.00001
|
NM_172250.3(MMAA):c.988C>T (p.Arg330Ter)
|
rs571038432
|
0.00001
|
GRCh37/hg19 1p34.1(chr1:45965972-45979054)
|
|
|
GRCh37/hg19 6q25.3(chr6:158567861-158571603)
|
|
|
NC_000001.10:g.(?_24128943)_(24129064_?)del
|
|
|
NC_000001.10:g.(?_24128943)_(24131025_?)del
|
|
|
NC_000001.10:g.(?_24137216)_(24151915_?)del
|
|
|
NC_000001.10:g.(?_24140670)_(24140838_?)del
|
|
|
NC_000001.10:g.(?_24140670)_(24194786_?)del
|
|
|
NC_000001.10:g.(?_24146990)_(24151915_?)del
|
|
|
NC_000001.10:g.(?_45965995)_(45966095_?)del
|
|
|
NC_000001.10:g.(?_45974458)_(45974897_?)del
|
|
|
NC_000001.11:g.(?_23825336)_(23825435_?)del
|
|
|
NC_000001.11:g.(?_45500323)_(45509225_?)del
|
|
|
NC_000002.11:g.(?_150438631)_(150438795_?)del
|
|
|
NC_000002.11:g.(?_150443583)_(150443611_?)del
|
|
|
NC_000002.11:g.(?_150443583)_(150443631_?)del
|
|
|
NC_000002.12:g.(?_149569954)_(149587117_?)del
|
|
|
NC_000002.12:g.(?_149569964)_(149587107_?)del
|
|
|
NC_000003.11:g.(?_135974688)_(136003251_?)del
|
|
|
NC_000003.11:g.(?_136002659)_(136016934_?)del
|
|
|
NC_000003.11:g.(?_136002659)_(136035926_?)del
|
|
|
NC_000003.11:g.(?_136012588)_(136035916_?)del
|
|
|
NC_000003.11:g.(?_136016774)_(136016934_?)del
|
|
|
NC_000003.11:g.(?_136019862)_(136019963_?)del
|
|
|
NC_000003.11:g.(?_15512023)_(15687154_?)del
|
|
|
NC_000003.11:g.(?_15643358)_(15643421_?)del
|
|
|
NC_000003.11:g.(?_15643358)_(15683584_?)del
|
|
|
NC_000003.11:g.(?_15683405)_(15687154_?)del
|
|
|
NC_000003.11:g.(?_180332709)_(180707390_?)del
|
|
|
NC_000003.11:g.(?_180707368)_(180707390_?)del
|
|
|
NC_000003.11:g.(?_182733206)_(182733374_?)del
|
|
|
NC_000003.11:g.(?_182733226)_(184094097_?)del
|
|
|
NC_000003.11:g.(?_182754986)_(182770048_?)del
|
|
|
NC_000003.11:g.(?_182754986)_(182775230_?)del
|
|
|
NC_000003.11:g.(?_182756794)_(182763348_?)del
|
|
|
NC_000003.11:g.(?_182769927)_(182817228_?)del
|
|
|
NC_000003.11:g.(?_182790144)_(182817385_?)del
|
|
|
NC_000003.11:g.(?_182810187)_(182812403_?)del
|
|
|
NC_000003.11:g.(?_182817140)_(182817228_?)del
|
|
|
NC_000003.12:g.(?_136250366)_(136250568_?)del
|
|
|
NC_000003.12:g.(?_136316921)_(136317084_?)del
|
|
|
NC_000003.12:g.(?_15601831)_(15601914_?)del
|
|
|
NC_000003.12:g.(?_183052139)_(183052260_?)del
|
|
|
NC_000003.12:g.(?_183070989)_(183072497_?)del
|
|
|
NC_000003.12:g.(?_183092389)_(183092565_?)del
|
|
|
NC_000003.12:g.136246220_136254271del
|
|
|
NC_000003.12:g.183057423del
|
|
|
NC_000004.11:g.(?_146560292)_(149358012_?)del
|
|
|
NC_000004.11:g.(?_146575136)_(146576596_?)del
|
|
|
NC_000004.12:g.(?_145639120)_(145642505_?)del
|
|
|
NC_000005.10:g.(?_71587406)_(71656880_?)del
|
|
|
NC_000005.10:g.(?_71626620)_(71649273_?)del
|
|
|
NC_000005.9:g.(?_70892087)_(70892211_?)del
|
|
|
NC_000005.9:g.(?_70892097)_(70892201_?)del
|
|
|
NC_000005.9:g.(?_70895476)_(70900305_?)dup
|
|
|
NC_000005.9:g.(?_70898323)_(70900305_?)del
|
|
|
NC_000005.9:g.(?_70898323)_(70928022_?)del
|
|
|
NC_000005.9:g.(?_70922447)_(70952687_?)del
|
|
|
NC_000005.9:g.(?_70922457)_(70922590_?)del
|
|
|
NC_000005.9:g.(?_70930773)_(70930871_?)del
|
|
|
NC_000005.9:g.(?_70936810)_(70936922_?)del
|
|
|
NC_000006.11:g.(?_158532398)_(162868359_?)del
|
|
|
NC_000006.11:g.(?_70386050)_(71012627_?)del
|
|
|
NC_000006.11:g.(?_70459213)_(70462268_?)del
|
|
|
NC_000006.12:g.(?_49447660)_(49459506_?)del
|
|
|
NC_000006.12:g.(?_49456070)_(49456247_?)del
|
|
|
NC_000006.12:g.69780555del
|
|
|
NC_000009.12:g.(?_91220785)_(91221012_?)del
|
|
|
NC_000009.12:g.91220993dup
|
rs781142774
|
|
NC_000011.10:g.(?_108121597)_(108147400_?)del
|
|
|
NC_000011.10:g.(?_108138888)_(108140225_?)del
|
|
|
NC_000011.10:g.(?_72293347)_(72434494_?)del
|
|
|
NC_000011.10:g.(?_72372905)_(72380404_?)del
|
|
|
NC_000011.9:g.(?_107992324)_(107992415_?)del
|
|
|
NC_000011.9:g.(?_108005849)_(108005989_?)del
|
|
|
NC_000011.9:g.(?_108006357)_(108009701_?)del
|
|
|
NC_000011.9:g.(?_108009615)_(108018127_?)del
|
|
|
NC_000011.9:g.(?_108010782)_(108012437_?)del
|
|
|
NC_000011.9:g.(?_108016909)_(108017106_?)del
|
|
|
NC_000011.9:g.(?_133778964)_(134134854_?)del
|
|
|
NC_000011.9:g.(?_72004411)_(72006712_?)del
|
|
|
NC_000011.9:g.(?_72145096)_(72145518_?)del
|
|
|
NC_000011.9:g.(?_72145398)_(72145517_?)del
|
|
|
NC_000011.9:g.(?_72145398)_(72150823_?)del
|
|
|
NC_000012.11:g.(?_109991510)_(109994951_?)del
|
|
|
NC_000012.11:g.(?_110009444)_(110012715_?)del
|
|
|
NC_000012.11:g.(?_110011228)_(110017709_?)del
|
|
|
NC_000013.10:g.(?_100741259)_(100741489_?)del
|
|
|
NC_000013.10:g.(?_100741375)_(101182420_?)del
|
|
|
NC_000013.10:g.(?_100807223)_(100809604_?)del
|
|
|
NC_000013.10:g.(?_100861576)_(100955262_?)del
|
|
|
NC_000013.10:g.(?_100888086)_(100992523_?)del
|
|
|
NC_000013.10:g.(?_100909829)_(101101579_?)del
|
|
|
NC_000013.10:g.(?_100909839)_(100992523_?)del
|
|
|
NC_000013.10:g.(?_100920933)_(100925610_?)del
|
|
|
NC_000013.10:g.(?_100925430)_(100925620_?)del
|
|
|
NC_000013.10:g.(?_100953694)_(100992533_?)del
|
|
|
NC_000013.10:g.(?_100953694)_(101078005_?)del
|
|
|
NC_000013.10:g.(?_100971208)_(100992469_?)del
|
|
|
NC_000013.10:g.(?_100992391)_(100992533_?)del
|
|
|
NC_000013.10:g.(?_101020716)_(101101569_?)del
|
|
|
NC_000013.10:g.(?_101167661)_(101167841_?)del
|
|
|
NC_000013.10:g.(?_101167671)_(101182701_?)del
|
|
|
NC_000013.10:g.(?_101179909)_(101180026_?)del
|
|
|
NC_000013.10:g.(?_101179909)_(101182420_?)del
|
|
|
NC_000013.11:g.(?_100111831)_(100112071_?)del
|
|
|
NC_000013.11:g.(?_100209322)_(100235888_?)del
|
|
|
NC_000013.11:g.(?_100268679)_(100268793_?)del
|
|
|
NC_000013.11:g.(?_100301450)_(100425741_?)del
|
|
|
NC_000013.11:g.(?_100330541)_(100368594_?)del
|
|
|
NC_000013.11:g.(?_100527655)_(100530186_?)del
|
|
|
NC_000013.11:g.(?_100527665)_(100530447_?)del
|
|
|
NC_000014.8:g.(?_74766231)_(74769615_?)del
|
|
|
NC_000015.10:g.(?_40416068)_(40418273_?)del
|
|
|
NC_000015.9:g.(?_40698000)_(40700209_?)del
|
|
|
NC_000015.9:g.(?_40698010)_(40698182_?)del
|
|
|
NC_000015.9:g.(?_40698010)_(40710472_?)del
|
|
|
NC_000015.9:g.(?_40699827)_(40710472_?)del
|
|
|
NC_000016.10:g.89112092del
|
rs750594210
|
|
NC_000016.9:g.(?_89160207)_(89203247_?)del
|
|
|
NC_000016.9:g.(?_89160207)_(89212467_?)del
|
|
|
NC_000016.9:g.(?_89164989)_(89222264_?)del
|
|
|
NC_000016.9:g.(?_89167070)_(89180915_?)del
|
|
|
NC_000016.9:g.(?_89167090)_(89169187_?)del
|
|
|
NC_000016.9:g.(?_89167090)_(89220615_?)del
|
|
|
NC_000016.9:g.(?_89178490)_(89207694_?)del
|
|
|
NC_000016.9:g.(?_89178490)_(89222264_?)del
|
|
|
NC_000016.9:g.(?_89183388)_(89187331_?)del
|
|
|
NC_000016.9:g.(?_89187199)_(89222264_?)del
|
|
|
NC_000016.9:g.(?_89199534)_(89199680_?)del
|
|
|
NC_000016.9:g.(?_89199534)_(89222264_?)del
|
|
|
NC_000016.9:g.(?_89220488)_(89222264_?)del
|
|
|
NC_000019.10:g.(?_45584613)_(45584774_?)del
|
|
|
NC_000021.8:g.(?_38132018)_(38362704_?)del
|
|
|
NC_000021.8:g.(?_38269140)_(38269451_?)del
|
|
|
NC_000021.8:g.(?_38269140)_(38311203_?)del
|
|
|
NC_000021.8:g.(?_38269150)_(38269441_?)del
|
|
|
NC_000021.8:g.(?_38302541)_(38311304_?)del
|
|
|
NC_000021.9:g.(?_36765002)_(36767295_?)del
|
|
|
NC_000021.9:g.(?_36938822)_(36939004_?)del
|
|
|
NC_000023.10:g.(?_152014869)_(155171615_?)del
|
|
|
NC_000023.10:g.(?_153639844)_(153642537_?)del
|
|
|
NC_000023.10:g.(?_153640161)_(153649363_?)del
|
|
|
NC_000023.10:g.(?_153647872)_(153650075_?)del
|
|
|
NC_012920.1:m.3243A>G
|
rs199474657
|
|
NG_008017.1:g.?_(11043_41520)del
|
|
|
NG_013061.1:g.(9952_12876)_(19725_22136)del
|
|
|
NM_000019.3:c.(120+1_121-1)_(344+1_345-1)del
|
|
|
NM_000019.3:c.(72+1_73-1)_(344+1_345-1)del
|
|
|
NM_000019.3:c.(72+1_73-1)_(435+1_436-1)del
|
|
|
NM_000019.3:c.(730+1_731-1)_(940+1_941-1)dup
|
|
|
NM_000019.4(ACAT1):c.1006-1G>A
|
rs1131691567
|
|
NM_000019.4(ACAT1):c.1006-1G>C
|
rs1131691567
|
|
NM_000019.4(ACAT1):c.1013_1016dup (p.Asp339fs)
|
rs1591374544
|
|
NM_000019.4(ACAT1):c.1032AGA[1] (p.Glu345del)
|
rs387906282
|
|
NM_000019.4(ACAT1):c.1032dup (p.Glu345fs)
|
rs1565297723
|
|
NM_000019.4(ACAT1):c.1033_1034del (p.Glu345fs)
|
rs781496140
|
|
NM_000019.4(ACAT1):c.1040T>C (p.Ile347Thr)
|
rs1338023969
|
|
NM_000019.4(ACAT1):c.1049G>A (p.Trp350Ter)
|
rs1367121673
|
|
NM_000019.4(ACAT1):c.104C>G (p.Ser35Ter)
|
|
|
NM_000019.4(ACAT1):c.1083dup (p.Ala362fs)
|
rs387906283
|
|
NM_000019.4(ACAT1):c.1100T>A (p.Leu367Ter)
|
rs2134791556
|
|
NM_000019.4(ACAT1):c.1114C>T (p.Gln372Ter)
|
rs2134791667
|
|
NM_000019.4(ACAT1):c.1117A>T (p.Lys373Ter)
|
rs2134791703
|
|
NM_000019.4(ACAT1):c.1128_1131dup (p.Gly378fs)
|
rs2134791752
|
|
NM_000019.4(ACAT1):c.1138G>A (p.Ala380Thr)
|
rs120074140
|
|
NM_000019.4(ACAT1):c.1163G>A (p.Gly388Glu)
|
rs773491386
|
|
NM_000019.4(ACAT1):c.1173dup (p.Ala392fs)
|
rs1565298653
|
|
NM_000019.4(ACAT1):c.1181_1211dup (p.Gln404fs)
|
rs2077737059
|
|
NM_000019.4(ACAT1):c.1189C>G (p.His397Asp)
|
rs746332363
|
|
NM_000019.4(ACAT1):c.120+374_731-68delinsTAA
|
|
|
NM_000019.4(ACAT1):c.121-13T>A
|
rs1591361903
|
|
NM_000019.4(ACAT1):c.121-3C>G
|
rs1591361919
|
|
NM_000019.4(ACAT1):c.1210C>T (p.Gln404Ter)
|
|
|
NM_000019.4(ACAT1):c.1223_1226dup (p.Ala410fs)
|
rs1591375843
|
|
NM_000019.4(ACAT1):c.134dup (p.Ser46fs)
|
rs1444451434
|
|
NM_000019.4(ACAT1):c.149del (p.Thr50fs)
|
rs779565865
|
|
NM_000019.4(ACAT1):c.163T>A (p.Phe55Ile)
|
|
|
NM_000019.4(ACAT1):c.170del (p.Gly57fs)
|
|
|
NM_000019.4(ACAT1):c.1A>C (p.Met1Leu)
|
|
|
NM_000019.4(ACAT1):c.217C>T (p.Gln73Ter)
|
|
|
NM_000019.4(ACAT1):c.229del (p.Glu77fs)
|
rs2077411287
|
|
NM_000019.4(ACAT1):c.233del (p.Lys78fs)
|
rs2135334849
|
|
NM_000019.4(ACAT1):c.238+2T>A
|
rs2135334862
|
|
NM_000019.4(ACAT1):c.252del (p.Glu85fs)
|
rs2135336077
|
|
NM_000019.4(ACAT1):c.261dup (p.Glu88fs)
|
rs1201662412
|
|
NM_000019.4(ACAT1):c.272del (p.Met91fs)
|
|
|
NM_000019.4(ACAT1):c.274G>A (p.Gly92Ser)
|
rs1591362402
|
|
NM_000019.4(ACAT1):c.278A>G (p.Asn93Ser)
|
rs120074145
|
|
NM_000019.4(ACAT1):c.286C>T (p.Gln96Ter)
|
rs1233969418
|
|
NM_000019.4(ACAT1):c.2T>A (p.Met1Lys)
|
rs120074142
|
|
NM_000019.4(ACAT1):c.2T>C (p.Met1Thr)
|
rs120074142
|
|
NM_000019.4(ACAT1):c.301C>T (p.Gln101Ter)
|
|
|
NM_000019.4(ACAT1):c.316C>T (p.Gln106Ter)
|
rs2135336400
|
|
NM_000019.4(ACAT1):c.330dup (p.Ala111fs)
|
|
|
NM_000019.4(ACAT1):c.334+1G>A
|
rs1591362533
|
|
NM_000019.4(ACAT1):c.354_355delinsG (p.Cys119fs)
|
rs1591363674
|
|
NM_000019.4(ACAT1):c.369_372del (p.Asn123fs)
|
|
|
NM_000019.4(ACAT1):c.372dup (p.Val125fs)
|
|
|
NM_000019.4(ACAT1):c.375_376del (p.Ala127fs)
|
|
|
NM_000019.4(ACAT1):c.378_379del (p.Ala127fs)
|
rs2135341631
|
|
NM_000019.4(ACAT1):c.381_396del (p.Ser128_Gly129insTer)
|
|
|
NM_000019.4(ACAT1):c.410_411insGGGCCTC (p.Gln138fs)
|
|
|
NM_000019.4(ACAT1):c.414_415del (p.Leu140fs)
|
rs1591363800
|
|
NM_000019.4(ACAT1):c.433C>T (p.Gln145Ter)
|
|
|
NM_000019.4(ACAT1):c.435+1G>A
|
rs1591363834
|
|
NM_000019.4(ACAT1):c.446del (p.Val149fs)
|
rs1591367375
|
|
NM_000019.4(ACAT1):c.455_475del (p.Gly152_Asn158del)
|
|
|
NM_000019.4(ACAT1):c.462_482delinsTCCTC (p.Glu154fs)
|
rs1591367422
|
|
NM_000019.4(ACAT1):c.483T>G (p.Tyr161Ter)
|
|
|
NM_000019.4(ACAT1):c.491_495del (p.Asn164fs)
|
rs2135356039
|
|
NM_000019.4(ACAT1):c.52dup (p.Leu18fs)
|
rs1476273214
|
|
NM_000019.4(ACAT1):c.537del (p.Ile179fs)
|
rs1415293773
|
|
NM_000019.4(ACAT1):c.542_543del (p.Lys181fs)
|
|
|
NM_000019.4(ACAT1):c.552_555del (p.Thr185fs)
|
|
|
NM_000019.4(ACAT1):c.571del (p.Ile191fs)
|
rs761038005
|
|
NM_000019.4(ACAT1):c.578T>C (p.Met193Thr)
|
rs541517496
|
|
NM_000019.4(ACAT1):c.578T>G (p.Met193Arg)
|
rs541517496
|
|
NM_000019.4(ACAT1):c.580-93_626del
|
|
|
NM_000019.4(ACAT1):c.619del (p.Ala207fs)
|
|
|
NM_000019.4(ACAT1):c.628G>T (p.Glu210Ter)
|
|
|
NM_000019.4(ACAT1):c.642T>G (p.Tyr214Ter)
|
rs761282960
|
|
NM_000019.4(ACAT1):c.649_652del (p.Asn217fs)
|
|
|
NM_000019.4(ACAT1):c.649_652dup (p.Ser218Ter)
|
|
|
NM_000019.4(ACAT1):c.64_72+10del
|
rs1318268067
|
|
NM_000019.4(ACAT1):c.653C>T (p.Ser218Phe)
|
rs879255505
|
|
NM_000019.4(ACAT1):c.655_656insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGCTATTAATTCTT (p.Tyr219delinsPhePhePhePhePhePhePheXaaXaaXaaXaaTrpSerArgSerProAspLeuMetIleHisProProArgProProLysValLeuGlyLeuGlnAlaTer)
|
rs2134761257
|
|
NM_000019.4(ACAT1):c.716_717del (p.Thr239fs)
|
|
|
NM_000019.4(ACAT1):c.721dup (p.Thr241fs)
|
|
|
NM_000019.4(ACAT1):c.730+1G>A
|
rs1591368919
|
|
NM_000019.4(ACAT1):c.730+2T>C
|
rs398123096
|
|
NM_000019.4(ACAT1):c.731-2A>G
|
rs752216720
|
|
NM_000019.4(ACAT1):c.731-46_752del
|
rs1591370141
|
|
NM_000019.4(ACAT1):c.733C>T (p.Gln245Ter)
|
rs2134768525
|
|
NM_000019.4(ACAT1):c.754_755insCT (p.Glu252fs)
|
rs1591370221
|
|
NM_000019.4(ACAT1):c.75_76del (p.Glu25fs)
|
|
|
NM_000019.4(ACAT1):c.763G>T (p.Glu255Ter)
|
rs2134768688
|
|
NM_000019.4(ACAT1):c.76dup (p.Ile26fs)
|
|
|
NM_000019.4(ACAT1):c.787A>T (p.Lys263Ter)
|
rs2134768866
|
|
NM_000019.4(ACAT1):c.789del (p.Val264fs)
|
|
|
NM_000019.4(ACAT1):c.79A>T (p.Arg27Ter)
|
rs1591360326
|
|
NM_000019.4(ACAT1):c.806_807del (p.Thr269fs)
|
|
|
NM_000019.4(ACAT1):c.824del (p.Asn275fs)
|
rs1163072872
|
|
NM_000019.4(ACAT1):c.826+2T>C
|
rs2077590197
|
|
NM_000019.4(ACAT1):c.835del (p.Thr279fs)
|
|
|
NM_000019.4(ACAT1):c.83_84del (p.Tyr28fs)
|
rs749873354
|
|
NM_000019.4(ACAT1):c.846dup (p.Ala283fs)
|
rs2134772571
|
|
NM_000019.4(ACAT1):c.869dup (p.Ala291fs)
|
|
|
NM_000019.4(ACAT1):c.86_87dup (p.Glu30fs)
|
rs1591360348
|
|
NM_000019.4(ACAT1):c.890C>A (p.Thr297Lys)
|
rs886041122
|
|
NM_000019.4(ACAT1):c.890C>T (p.Thr297Met)
|
rs886041122
|
|
NM_000019.4(ACAT1):c.905del (p.Lys302fs)
|
rs398123097
|
|
NM_000019.4(ACAT1):c.940+1G>T
|
rs1591371185
|
|
NM_000019.4(ACAT1):c.941-9T>A
|
rs980651269
|
|
NM_000019.4(ACAT1):c.962_963del (p.Glu321fs)
|
|
|
NM_000060.2(BTD):c.[1207T>G;1330G>C]
|
|
|
NM_000060.2(BTD):c.[511G>A;1330G>C]
|
|
|
NM_000116.5(TAFAZZIN):c.109+5G>A
|
rs2148185111
|
|
NM_000116.5(TAFAZZIN):c.109+5G>C
|
rs2148185111
|
|
NM_000116.5(TAFAZZIN):c.110-2A>G
|
rs1603376833
|
|
NM_000116.5(TAFAZZIN):c.129del (p.Val44fs)
|
rs2148186224
|
|
NM_000116.5(TAFAZZIN):c.153C>A (p.Tyr51Ter)
|
|
|
NM_000116.5(TAFAZZIN):c.153C>G (p.Tyr51Ter)
|
rs104894941
|
|
NM_000116.5(TAFAZZIN):c.236G>A (p.Trp79Ter)
|
|
|
NM_000116.5(TAFAZZIN):c.238+1del
|
|
|
NM_000116.5(TAFAZZIN):c.238G>A (p.Gly80Arg)
|
rs1557191170
|
|
NM_000116.5(TAFAZZIN):c.238G>C (p.Gly80Arg)
|
rs1557191170
|
|
NM_000116.5(TAFAZZIN):c.239-1G>A
|
rs1603377590
|
|
NM_000116.5(TAFAZZIN):c.239-1G>C
|
rs1603377590
|
|
NM_000116.5(TAFAZZIN):c.280C>A (p.Arg94Ser)
|
rs104894942
|
|
NM_000116.5(TAFAZZIN):c.280C>T (p.Arg94Cys)
|
rs104894942
|
|
NM_000116.5(TAFAZZIN):c.281G>A (p.Arg94His)
|
rs1060500044
|
|
NM_000116.5(TAFAZZIN):c.281G>T (p.Arg94Leu)
|
rs1060500044
|
|
NM_000116.5(TAFAZZIN):c.284+110G>A
|
rs1603377747
|
|
NM_000116.5(TAFAZZIN):c.293_294insTTAGGACCCC (p.Ala98_Ala99insTer)
|
rs2148191858
|
|
NM_000116.5(TAFAZZIN):c.310T>C (p.Phe104Leu)
|
rs397515741
|
|
NM_000116.5(TAFAZZIN):c.347G>A (p.Gly116Asp)
|
rs727504327
|
|
NM_000116.5(TAFAZZIN):c.352T>C (p.Cys118Arg)
|
rs104894937
|
|
NM_000116.5(TAFAZZIN):c.367C>T (p.Arg123Ter)
|
rs1569552731
|
|
NM_000116.5(TAFAZZIN):c.370G>T (p.Gly124Ter)
|
rs1603377945
|
|
NM_000116.5(TAFAZZIN):c.461-2A>G
|
rs876661038
|
|
NM_000116.5(TAFAZZIN):c.497T>A (p.Leu166Ter)
|
|
|
NM_000116.5(TAFAZZIN):c.517del (p.Asp173fs)
|
|
|
NM_000116.5(TAFAZZIN):c.536del (p.Pro179fs)
|
|
|
NM_000116.5(TAFAZZIN):c.553A>G (p.Met185Val)
|
|
|
NM_000116.5(TAFAZZIN):c.562G>T (p.Glu188Ter)
|
|
|
NM_000116.5(TAFAZZIN):c.575del (p.Phe192fs)
|
|
|
NM_000116.5(TAFAZZIN):c.580dup (p.Trp194fs)
|
rs2148211636
|
|
NM_000116.5(TAFAZZIN):c.582G>A (p.Trp194Ter)
|
rs794729167
|
|
NM_000116.5(TAFAZZIN):c.583G>T (p.Gly195Ter)
|
rs878853656
|
|
NM_000116.5(TAFAZZIN):c.586del (p.Ile196fs)
|
|
|
NM_000116.5(TAFAZZIN):c.589G>A (p.Gly197Arg)
|
rs132630277
|
|
NM_000116.5(TAFAZZIN):c.605_608del (p.Glu202fs)
|
rs1603381671
|
|
NM_000116.5(TAFAZZIN):c.634del (p.Leu212fs)
|
rs2148212610
|
|
NM_000116.5(TAFAZZIN):c.646G>A (p.Gly216Arg)
|
rs1085307797
|
|
NM_000116.5(TAFAZZIN):c.647-1G>C
|
rs587776741
|
|
NM_000116.5(TAFAZZIN):c.697C>T (p.Gln233Ter)
|
rs1603381860
|
|
NM_000116.5(TAFAZZIN):c.700-1G>A
|
rs397515747
|
|
NM_000116.5(TAFAZZIN):c.703dup (p.Ile235fs)
|
|
|
NM_000116.5(TAFAZZIN):c.710_711del (p.Val237fs)
|
rs727504394
|
|
NM_000116.5(TAFAZZIN):c.718G>A (p.Gly240Arg)
|
rs387907218
|
|
NM_000116.5(TAFAZZIN):c.777+1G>A
|
rs2068606932
|
|
NM_000116.5(TAFAZZIN):c.811C>T (p.Gln271Ter)
|
rs1298362744
|
|
NM_000116.5(TAFAZZIN):c.868_872dup (p.Arg292fs)
|
|
|
NM_000191.3(HMGCL):c.133C>T (p.Gln45Ter)
|
rs2148425853
|
|
NM_000191.3(HMGCL):c.137dup (p.Asn46fs)
|
rs1638698938
|
|
NM_000191.3(HMGCL):c.144G>T (p.Lys48Asn)
|
|
|
NM_000191.3(HMGCL):c.178_187del (p.Ile60fs)
|
|
|
NM_000191.3(HMGCL):c.206_207del (p.Ser69fs)
|
rs752137615
|
|
NM_000191.3(HMGCL):c.208_209del (p.Val70fs)
|
rs2148424175
|
|
NM_000191.3(HMGCL):c.230del (p.Val77fs)
|
rs1638632303
|
|
NM_000191.3(HMGCL):c.242G>A (p.Trp81Ter)
|
rs2148424154
|
|
NM_000191.3(HMGCL):c.250C>T (p.Gln84Ter)
|
|
|
NM_000191.3(HMGCL):c.252+1G>A
|
rs775218067
|
|
NM_000191.3(HMGCL):c.253-2A>G
|
|
|
NM_000191.3(HMGCL):c.286C>T (p.Gln96Ter)
|
rs890995574
|
|
NM_000191.3(HMGCL):c.286del (p.Gln96fs)
|
rs1184002840
|
|
NM_000191.3(HMGCL):c.308_317dup (p.Thr107fs)
|
rs1274176298
|
|
NM_000191.3(HMGCL):c.319del (p.Thr107fs)
|
|
|
NM_000191.3(HMGCL):c.349_361del
|
|
|
NM_000191.3(HMGCL):c.374_375del (p.Val125fs)
|
rs1638575413
|
|
NM_000191.3(HMGCL):c.392del (p.Ala130_Ser131insTer)
|
rs1638575128
|
|
NM_000191.3(HMGCL):c.394_406dup (p.Lys136fs)
|
|
|
NM_000191.3(HMGCL):c.477del (p.Ala160fs)
|
|
|
NM_000191.3(HMGCL):c.484dup (p.Ile162fs)
|
|
|
NM_000191.3(HMGCL):c.497+1dup
|
|
|
NM_000191.3(HMGCL):c.499T>A (p.Tyr167Asn)
|
rs1553132209
|
|
NM_000191.3(HMGCL):c.501C>A (p.Tyr167Ter)
|
rs200189529
|
|
NM_000191.3(HMGCL):c.505_506del (p.Ser169fs)
|
rs764264834
|
|
NM_000191.3(HMGCL):c.528T>A (p.Tyr176Ter)
|
rs112508527
|
|
NM_000191.3(HMGCL):c.545del (p.Pro182fs)
|
rs2148420687
|
|
NM_000191.3(HMGCL):c.610del (p.Asp204fs)
|
rs2148419170
|
|
NM_000191.3(HMGCL):c.621del (p.Val208fs)
|
rs2148419158
|
|
NM_000191.3(HMGCL):c.690_698del (p.Ala231_His233del)
|
|
|
NM_000191.3(HMGCL):c.704_705dup (p.Asp236fs)
|
|
|
NM_000191.3(HMGCL):c.71C>A (p.Ser24Ter)
|
rs778751712
|
|
NM_000191.3(HMGCL):c.724_725del (p.Leu242fs)
|
|
|
NM_000191.3(HMGCL):c.769del (p.Asp257fs)
|
rs2148417048
|
|
NM_000191.3(HMGCL):c.835G>A (p.Glu279Lys)
|
rs121964998
|
|
NM_000191.3(HMGCL):c.866del (p.Gly289fs)
|
|
|
NM_000191.3(HMGCL):c.874_876+31del
|
|
|
NM_000191.3(HMGCL):c.874dup (p.Thr292fs)
|
|
|
NM_000191.3(HMGCL):c.876+1G>C
|
rs779802353
|
|
NM_000191.3(HMGCL):c.914_915del (p.Phe305fs)
|
rs786205431
|
|
NM_000255.3(MMUT):c.[1891delG];[322C>T]
|
|
|
NM_000255.4(MMUT):c.-39-1G>A
|
rs879253822
|
|
NM_000255.4(MMUT):c.1022dup (p.Asn341fs)
|
rs752898811
|
|
NM_000255.4(MMUT):c.1025C>A (p.Ser342Ter)
|
rs770466993
|
|
NM_000255.4(MMUT):c.1032TCT[2] (p.Leu347del)
|
rs765373403
|
|
NM_000255.4(MMUT):c.1040T>G (p.Leu347Arg)
|
rs1026703654
|
|
NM_000255.4(MMUT):c.1084-1G>A
|
rs879253838
|
|
NM_000255.4(MMUT):c.1126_1127del (p.Ala376fs)
|
rs1554159950
|
|
NM_000255.4(MMUT):c.1160C>T (p.Thr387Ile)
|
|
|
NM_000255.4(MMUT):c.1164T>A (p.Asn388Lys)
|
rs879253840
|
|
NM_000255.4(MMUT):c.1181dup (p.Leu394fs)
|
rs879253841
|
|
NM_000255.4(MMUT):c.1196_1197del (p.Val399fs)
|
rs1227030642
|
|
NM_000255.4(MMUT):c.1218del (p.Asn407fs)
|
rs1050465802
|
|
NM_000255.4(MMUT):c.1240G>T (p.Glu414Ter)
|
rs2127417916
|
|
NM_000255.4(MMUT):c.1271C>T (p.Pro424Leu)
|
rs879253842
|
|
NM_000255.4(MMUT):c.1277G>A (p.Gly426Glu)
|
rs533755473
|
|
NM_000255.4(MMUT):c.129G>A (p.Trp43Ter)
|
rs879253825
|
|
NM_000255.4(MMUT):c.1332+1del
|
rs771542321
|
|
NM_000255.4(MMUT):c.1333-20_1333-9del
|
rs879253843
|
|
NM_000255.4(MMUT):c.1445-1G>C
|
rs1226722287
|
|
NM_000255.4(MMUT):c.1489G>T (p.Glu497Ter)
|
rs879253844
|
|
NM_000255.4(MMUT):c.160A>T (p.Lys54Ter)
|
rs1554161054
|
|
NM_000255.4(MMUT):c.1655C>T (p.Ala552Val)
|
rs879253845
|
|
NM_000255.4(MMUT):c.1663G>A (p.Ala555Thr)
|
rs753564352
|
|
NM_000255.4(MMUT):c.1677-1G>C
|
rs754369323
|
|
NM_000255.4(MMUT):c.1677_1747dup (p.Val583Aspfs)
|
|
|
NM_000255.4(MMUT):c.1808G>A (p.Arg603Lys)
|
rs1412463565
|
|
NM_000255.4(MMUT):c.1843C>A (p.Pro615Thr)
|
rs1302409621
|
|
NM_000255.4(MMUT):c.1849CTT[1] (p.Leu618del)
|
rs398123277
|
|
NM_000255.4(MMUT):c.1853T>C (p.Leu618Pro)
|
rs879253846
|
|
NM_000255.4(MMUT):c.1874A>C (p.Asp625Ala)
|
rs879253847
|
|
NM_000255.4(MMUT):c.1874A>G (p.Asp625Gly)
|
rs879253847
|
|
NM_000255.4(MMUT):c.1885dup (p.Arg629fs)
|
rs1561952122
|
|
NM_000255.4(MMUT):c.1933_1937del (p.Val645fs)
|
|
|
NM_000255.4(MMUT):c.1956+2T>C
|
rs750619189
|
|
NM_000255.4(MMUT):c.1957-892C>A
|
rs1581819081
|
|
NM_000255.4(MMUT):c.1962_1963del (p.Pro654_Arg655insTer)
|
rs1554158377
|
|
NM_000255.4(MMUT):c.1975C>T (p.Gln659Ter)
|
rs879253848
|
|
NM_000255.4(MMUT):c.2078del (p.Gly693fs)
|
rs879253849
|
|
NM_000255.4(MMUT):c.2107G>C (p.Gly703Arg)
|
rs121918255
|
|
NM_000255.4(MMUT):c.2193_2196dup (p.Val733fs)
|
rs879253850
|
|
NM_000255.4(MMUT):c.2194_2197delinsTGGAA (p.Ala732fs)
|
rs879253851
|
|
NM_000255.4(MMUT):c.2200C>T (p.Gln734Ter)
|
rs879253852
|
|
NM_000255.4(MMUT):c.29dup (p.Leu10fs)
|
rs1437477079
|
|
NM_000255.4(MMUT):c.2T>C (p.Met1Thr)
|
rs879253820
|
|
NM_000255.4(MMUT):c.30dup (p.Leu11fs)
|
rs879253821
|
|
NM_000255.4(MMUT):c.312del (p.Trp105fs)
|
rs1064793768
|
|
NM_000255.4(MMUT):c.329A>G (p.Tyr110Cys)
|
rs796052005
|
|
NM_000255.4(MMUT):c.349G>T (p.Glu117Ter)
|
rs121918253
|
|
NM_000255.4(MMUT):c.360dup (p.Lys121Ter)
|
rs1554160919
|
|
NM_000255.4(MMUT):c.378C>A (p.Asn126Lys)
|
rs879253827
|
|
NM_000255.4(MMUT):c.397G>A (p.Gly133Arg)
|
rs879253828
|
|
NM_000255.4(MMUT):c.415G>A (p.Asp139Asn)
|
rs879253829
|
|
NM_000255.4(MMUT):c.430C>T (p.Arg144Cys)
|
|
|
NM_000255.4(MMUT):c.438T>A (p.Tyr146Ter)
|
rs200735240
|
|
NM_000255.4(MMUT):c.467A>T (p.Asp156Val)
|
rs757000253
|
|
NM_000255.4(MMUT):c.55dup (p.Val19fs)
|
rs879253823
|
|
NM_000255.4(MMUT):c.560C>G (p.Thr187Ser)
|
rs879253830
|
|
NM_000255.4(MMUT):c.566A>T (p.Asn189Ile)
|
rs200908035
|
|
NM_000255.4(MMUT):c.610GAA[1] (p.Glu205del)
|
rs879253831
|
|
NM_000255.4(MMUT):c.630del (p.Glu211fs)
|
rs879253832
|
|
NM_000255.4(MMUT):c.643G>A (p.Gly215Ser)
|
rs121918258
|
|
NM_000255.4(MMUT):c.643G>T (p.Gly215Cys)
|
rs121918258
|
|
NM_000255.4(MMUT):c.653A>G (p.Gln218Arg)
|
rs869320653
|
|
NM_000255.4(MMUT):c.670G>T (p.Glu224Ter)
|
rs1554160638
|
|
NM_000255.4(MMUT):c.671_678dup (p.Val227fs)
|
rs758008398
|
|
NM_000255.4(MMUT):c.689C>G (p.Thr230Arg)
|
rs879253833
|
|
NM_000255.4(MMUT):c.689_690del (p.Thr230fs)
|
rs2127419920
|
|
NM_000255.4(MMUT):c.692dup (p.Tyr231Ter)
|
rs747777227
|
|
NM_000255.4(MMUT):c.693C>G (p.Tyr231Ter)
|
rs879253834
|
|
NM_000255.4(MMUT):c.729_730insTT (p.Asp244fs)
|
rs780283588
|
|
NM_000255.4(MMUT):c.753+2T>A
|
rs796052006
|
|
NM_000255.4(MMUT):c.810_811delinsA (p.Ala271fs)
|
rs1767682543
|
|
NM_000255.4(MMUT):c.828G>C (p.Glu276Asp)
|
rs12175488
|
|
NM_000255.4(MMUT):c.850G>A (p.Gly284Arg)
|
rs761477436
|
|
NM_000255.4(MMUT):c.851G>A (p.Gly284Glu)
|
rs879253835
|
|
NM_000255.4(MMUT):c.88C>T (p.Gln30Ter)
|
rs879253824
|
|
NM_000255.4(MMUT):c.927G>A (p.Trp309Ter)
|
rs879253836
|
|
NM_000255.4(MMUT):c.970G>A (p.Ala324Thr)
|
rs780387525
|
|
NM_000255.4(MMUT):c.974G>A (p.Gly325Asp)
|
rs879253837
|
|
NM_000255.4(MMUT):c.977G>A (p.Arg326Lys)
|
rs758577372
|
|
NM_000282.4(PCCA):c.1003_1012del (p.Val335fs)
|
|
|
NM_000282.4(PCCA):c.1023dup (p.Lys342Ter)
|
rs398123297
|
|
NM_000282.4(PCCA):c.105+1G>A
|
rs879253804
|
|
NM_000282.4(PCCA):c.1067_1068insCT (p.Glu357fs)
|
rs2152683826
|
|
NM_000282.4(PCCA):c.1132A>T (p.Lys378Ter)
|
|
|
NM_000282.4(PCCA):c.1138dup (p.Tyr380fs)
|
|
|
NM_000282.4(PCCA):c.1178dup (p.Trp394fs)
|
|
|
NM_000282.4(PCCA):c.1187T>G (p.Val396Gly)
|
rs1555411216
|
|
NM_000282.4(PCCA):c.1189G>T (p.Glu397Ter)
|
rs1295357399
|
|
NM_000282.4(PCCA):c.1190_1193del (p.Glu397fs)
|
rs879253806
|
|
NM_000282.4(PCCA):c.1209+3A>G
|
rs1467680142
|
|
NM_000282.4(PCCA):c.1226_1227del (p.Phe409fs)
|
|
|
NM_000282.4(PCCA):c.1268dup (p.Leu424fs)
|
|
|
NM_000282.4(PCCA):c.127C>T (p.Gln43Ter)
|
rs2047400320
|
|
NM_000282.4(PCCA):c.1284+2dup
|
rs776978090
|
|
NM_000282.4(PCCA):c.1285-1416A>G
|
rs1362195093
|
|
NM_000282.4(PCCA):c.1288C>T (p.Arg430Ter)
|
rs776821944
|
|
NM_000282.4(PCCA):c.1312G>T (p.Gly438Ter)
|
rs2152692650
|
|
NM_000282.4(PCCA):c.131delinsATT (p.Cys44fs)
|
rs1594090133
|
|
NM_000282.4(PCCA):c.1330dup (p.Tyr444fs)
|
rs1595236063
|
|
NM_000282.4(PCCA):c.134_135del (p.Leu45fs)
|
rs879253809
|
|
NM_000282.4(PCCA):c.1353+5_1353+9del
|
rs764045674
|
|
NM_000282.4(PCCA):c.1364_1365del (p.Tyr455fs)
|
|
|
NM_000282.4(PCCA):c.1415dup (p.Asn472fs)
|
|
|
NM_000282.4(PCCA):c.1418_1419del (p.Tyr473fs)
|
|
|
NM_000282.4(PCCA):c.1456C>T (p.Arg486Ter)
|
rs2069404553
|
|
NM_000282.4(PCCA):c.145del (p.Arg49fs)
|
rs2047402577
|
|
NM_000282.4(PCCA):c.1477del (p.Arg493fs)
|
rs746733688
|
|
NM_000282.4(PCCA):c.1495del (p.Ile499fs)
|
|
|
NM_000282.4(PCCA):c.1539del (p.Gly514fs)
|
rs1566945996
|
|
NM_000282.4(PCCA):c.1558_1559dup (p.Ser520fs)
|
|
|
NM_000282.4(PCCA):c.1561G>T (p.Glu521Ter)
|
rs2071086995
|
|
NM_000282.4(PCCA):c.1598_1601del (p.Phe533fs)
|
rs1344574242
|
|
NM_000282.4(PCCA):c.16del (p.Val6fs)
|
|
|
NM_000282.4(PCCA):c.1716dup (p.Val573fs)
|
rs2152811869
|
|
NM_000282.4(PCCA):c.1746+1G>A
|
rs2075369142
|
|
NM_000282.4(PCCA):c.1746+2T>C
|
|
|
NM_000282.4(PCCA):c.1747-1G>C
|
rs879253803
|
|
NM_000282.4(PCCA):c.1763C>A (p.Ser588Ter)
|
|
|
NM_000282.4(PCCA):c.1772_1778dup (p.Ser594fs)
|
|
|
NM_000282.4(PCCA):c.183+4_183+7del
|
rs1555342581
|
|
NM_000282.4(PCCA):c.1831C>T (p.Gln611Ter)
|
rs2152894046
|
|
NM_000282.4(PCCA):c.184-1G>A
|
rs879253807
|
|
NM_000282.4(PCCA):c.1845+1G>A
|
rs1595860868
|
|
NM_000282.4(PCCA):c.1845+2T>G
|
|
|
NM_000282.4(PCCA):c.1846-2_1852del
|
rs2152925644
|
|
NM_000282.4(PCCA):c.1847_1848del
|
|
|
NM_000282.4(PCCA):c.184del (p.Thr62fs)
|
rs879253812
|
|
NM_000282.4(PCCA):c.1899+2_1899+3insCT
|
rs2081058900
|
|
NM_000282.4(PCCA):c.1899+4_1899+7del
|
rs794727334
|
|
NM_000282.4(PCCA):c.1902C>G (p.Tyr634Ter)
|
|
|
NM_000282.4(PCCA):c.1920del (p.Arg641fs)
|
rs1594099731
|
|
NM_000282.4(PCCA):c.1977_1978dup (p.Ser660fs)
|
|
|
NM_000282.4(PCCA):c.1994dup (p.Met666fs)
|
rs1323994245
|
|
NM_000282.4(PCCA):c.2027del (p.Lys676fs)
|
rs1555327702
|
|
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.2098_2104del (p.Thr700fs)
|
|
|
NM_000282.4(PCCA):c.2103del (p.Thr704fs)
|
rs1555331314
|
|
NM_000282.4(PCCA):c.2119-1G>C
|
|
|
NM_000282.4(PCCA):c.2119-2A>G
|
rs867315913
|
|
NM_000282.4(PCCA):c.2129_2130del (p.Val710fs)
|
rs1317003529
|
|
NM_000282.4(PCCA):c.217G>T (p.Glu73Ter)
|
rs2152278559
|
|
NM_000282.4(PCCA):c.234del (p.Ile79fs)
|
|
|
NM_000282.4(PCCA):c.24_46dup (p.Arg16fs)
|
rs999936193
|
|
NM_000282.4(PCCA):c.270dup (p.Ala91fs)
|
|
|
NM_000282.4(PCCA):c.284A>G (p.Asp95Gly)
|
rs879253801
|
|
NM_000282.4(PCCA):c.284del (p.Asp95fs)
|
rs775825345
|
|
NM_000282.4(PCCA):c.2T>A (p.Met1Lys)
|
rs372093520
|
|
NM_000282.4(PCCA):c.305del (p.His102fs)
|
rs1594413545
|
|
NM_000282.4(PCCA):c.322G>T (p.Glu108Ter)
|
|
|
NM_000282.4(PCCA):c.334_335del (p.Val112fs)
|
rs1594413897
|
|
NM_000282.4(PCCA):c.39del (p.Ala14fs)
|
rs1593996563
|
|
NM_000282.4(PCCA):c.412G>A (p.Ala138Thr)
|
rs202247814
|
|
NM_000282.4(PCCA):c.415-1G>A
|
|
|
NM_000282.4(PCCA):c.415-2A>G
|
rs746286209
|
|
NM_000282.4(PCCA):c.425G>A (p.Gly142Asp)
|
rs796052019
|
|
NM_000282.4(PCCA):c.431G>T (p.Gly144Val)
|
rs879253808
|
|
NM_000282.4(PCCA):c.43G>T (p.Gly15Ter)
|
rs1593996636
|
|
NM_000282.4(PCCA):c.440del (p.Leu146_Ser147insTer)
|
rs1555361758
|
|
NM_000282.4(PCCA):c.446del (p.Asn149fs)
|
rs1206838893
|
|
NM_000282.4(PCCA):c.449_450del (p.Lys150fs)
|
|
|
NM_000282.4(PCCA):c.467T>A (p.Leu156Ter)
|
rs760387660
|
|
NM_000282.4(PCCA):c.468+1G>A
|
rs766139678
|
|
NM_000282.4(PCCA):c.497del (p.Pro166fs)
|
|
|
NM_000282.4(PCCA):c.49_53del (p.Arg17fs)
|
|
|
NM_000282.4(PCCA):c.505_506del (p.His169fs)
|
rs2152478652
|
|
NM_000282.4(PCCA):c.506dup (p.His169fs)
|
rs2152478688
|
|
NM_000282.4(PCCA):c.548T>G (p.Leu183Ter)
|
rs879253811
|
|
NM_000282.4(PCCA):c.556A>T (p.Lys186Ter)
|
rs2059069232
|
|
NM_000282.4(PCCA):c.562_573del (p.Glu188_Thr191del)
|
rs2152478820
|
|
NM_000282.4(PCCA):c.600+1G>A
|
rs879253802
|
|
NM_000282.4(PCCA):c.600+1G>T
|
rs879253802
|
|
NM_000282.4(PCCA):c.615dup (p.Val206fs)
|
rs1566767338
|
|
NM_000282.4(PCCA):c.645dup (p.Val216fs)
|
|
|
NM_000282.4(PCCA):c.656dup (p.Ala220fs)
|
rs1594961338
|
|
NM_000282.4(PCCA):c.672dup (p.Gly225fs)
|
rs1164986524
|
|
NM_000282.4(PCCA):c.699G>A (p.Trp233Ter)
|
|
|
NM_000282.4(PCCA):c.69_78del (p.Gln23fs)
|
rs781030239
|
|
NM_000282.4(PCCA):c.717-2A>G
|
rs2062611307
|
|
NM_000282.4(PCCA):c.722del (p.Gly241fs)
|
rs745571507
|
|
NM_000282.4(PCCA):c.734C>A (p.Ser245Ter)
|
|
|
NM_000282.4(PCCA):c.734C>G (p.Ser245Ter)
|
rs1594992191
|
|
NM_000282.4(PCCA):c.737dup (p.Gln247fs)
|
|
|
NM_000282.4(PCCA):c.789del (p.Phe263fs)
|
|
|
NM_000282.4(PCCA):c.843del (p.Asn281fs)
|
rs1555400381
|
|
NM_000282.4(PCCA):c.85del (p.Ala29fs)
|
|
|
NM_000282.4(PCCA):c.862A>G (p.Arg288Gly)
|
rs121964957
|
|
NM_000282.4(PCCA):c.862A>T (p.Arg288Ter)
|
rs121964957
|
|
NM_000282.4(PCCA):c.866_867del (p.Glu289fs)
|
rs760976198
|
|
NM_000282.4(PCCA):c.872C>G (p.Ser291Ter)
|
rs1595033018
|
|
NM_000282.4(PCCA):c.877C>G (p.Gln293Glu)
|
|
|
NM_000282.4(PCCA):c.878A>G (p.Gln293Arg)
|
rs879253805
|
|
NM_000282.4(PCCA):c.891_892del (p.Lys298fs)
|
|
|
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_000282.4(PCCA):c.959C>A (p.Ala320Asp)
|
|
|
NM_000282.4(PCCA):c.978del (p.Ala326_Val327insTer)
|
|
|
NM_000528.4(MAN2B1):c.729_730insTT (p.Ser244fs)
|
rs1568307275
|
|
NM_000532.4(PCCB):c.1218_1231delGGGCATCATCCGGCins12 (p.?)
|
|
|
NM_000532.5(PCCB):c.-8_12del (p.Met1fs)
|
rs2108127602
|
|
NM_000532.5(PCCB):c.1008T>G (p.Tyr336Ter)
|
|
|
NM_000532.5(PCCB):c.1027_1028dup (p.Phe344fs)
|
rs2108226643
|
|
NM_000532.5(PCCB):c.1043_1044del (p.Asn348fs)
|
rs2108226666
|
|
NM_000532.5(PCCB):c.105dup (p.Asn36Ter)
|
rs2108127935
|
|
NM_000532.5(PCCB):c.1090_1090+1insTC
|
|
|
NM_000532.5(PCCB):c.1091-8_1091-3del
|
rs1249235758
|
|
NM_000532.5(PCCB):c.10del (p.Ala4fs)
|
|
|
NM_000532.5(PCCB):c.1126C>T (p.Arg376Cys)
|
rs200306164
|
|
NM_000532.5(PCCB):c.1131dup (p.Val378fs)
|
|
|
NM_000532.5(PCCB):c.1142dup (p.Cys381fs)
|
rs2108237854
|
|
NM_000532.5(PCCB):c.1143T>A (p.Cys381Ter)
|
|
|
NM_000532.5(PCCB):c.1143_1144dup (p.Asp382fs)
|
rs1307858265
|
|
NM_000532.5(PCCB):c.1146T>A (p.Asp382Glu)
|
rs2108237867
|
|
NM_000532.5(PCCB):c.1172T>C (p.Phe391Ser)
|
|
|
NM_000532.5(PCCB):c.1172_1173del (p.Phe391fs)
|
rs587776758
|
|
NM_000532.5(PCCB):c.1173dup (p.Val392fs)
|
rs587776758
|
|
NM_000532.5(PCCB):c.1199-1G>C
|
|
|
NM_000532.5(PCCB):c.1199-2A>G
|
|
|
NM_000532.5(PCCB):c.1207C>T (p.Gln403Ter)
|
rs768935968
|
|
NM_000532.5(PCCB):c.1210G>A (p.Glu404Lys)
|
rs777027944
|
|
NM_000532.5(PCCB):c.1214dup (p.Tyr405Ter)
|
rs2108238365
|
|
NM_000532.5(PCCB):c.1218_1231delinsTAGAGCACAGGA (p.Gly407fs)
|
rs397507445
|
|
NM_000532.5(PCCB):c.1220del (p.Gly407fs)
|
rs1576360488
|
|
NM_000532.5(PCCB):c.1223_1226del (p.Ile408fs)
|
|
|
NM_000532.5(PCCB):c.1260dup (p.Glu421Ter)
|
rs1553784569
|
|
NM_000532.5(PCCB):c.1275del (p.Val427fs)
|
rs2108238464
|
|
NM_000532.5(PCCB):c.1283_1284del (p.Thr428fs)
|
rs775583360
|
|
NM_000532.5(PCCB):c.1299+3_1299+10del
|
|
|
NM_000532.5(PCCB):c.1353_1356del (p.Asn452fs)
|
|
|
NM_000532.5(PCCB):c.135_148del (p.Ala46fs)
|
|
|
NM_000532.5(PCCB):c.1361_1364del (p.Ala454fs)
|
rs2108239069
|
|
NM_000532.5(PCCB):c.136_139delinsCCT (p.Ala46fs)
|
rs1576397633
|
|
NM_000532.5(PCCB):c.1379_1385del (p.Ile460fs)
|
rs1553784721
|
|
NM_000532.5(PCCB):c.1398+1G>A
|
|
|
NM_000532.5(PCCB):c.1398+1G>C
|
|
|
NM_000532.5(PCCB):c.1422del (p.His476fs)
|
rs2108240287
|
|
NM_000532.5(PCCB):c.1429G>T (p.Glu477Ter)
|
rs1553784921
|
|
NM_000532.5(PCCB):c.1433_1436dup (p.Glu480fs)
|
rs1576361811
|
|
NM_000532.5(PCCB):c.1465A>T (p.Lys489Ter)
|
|
|
NM_000532.5(PCCB):c.1478del (p.Pro493fs)
|
|
|
NM_000532.5(PCCB):c.1498+2T>C
|
rs879253816
|
|
NM_000532.5(PCCB):c.1499-1G>C
|
rs1935478339
|
|
NM_000532.5(PCCB):c.14T>G (p.Leu5Ter)
|
rs1292452485
|
|
NM_000532.5(PCCB):c.1514T>A (p.Ile505Asn)
|
|
|
NM_000532.5(PCCB):c.1519C>T (p.Gln507Ter)
|
rs2108241656
|
|
NM_000532.5(PCCB):c.152dup (p.Gln52fs)
|
rs1941483338
|
|
NM_000532.5(PCCB):c.1534C>T (p.Arg512Cys)
|
rs186710233
|
|
NM_000532.5(PCCB):c.1538_1540dup (p.Ala513_Arg514insPro)
|
rs202247821
|
|
NM_000532.5(PCCB):c.1540C>T (p.Arg514Ter)
|
rs749908889
|
|
NM_000532.5(PCCB):c.155_183+17del
|
rs1941483558
|
|
NM_000532.5(PCCB):c.1582C>T (p.Gln528Ter)
|
rs1935482553
|
|
NM_000532.5(PCCB):c.167_179delinsC (p.Asp56_Lys60delinsAla)
|
|
|
NM_000532.5(PCCB):c.174_175delinsTA (p.Gln58_His59delinsHisAsn)
|
rs2108128131
|
|
NM_000532.5(PCCB):c.180_181delinsTT (p.Lys60_Arg61delinsAsnTer)
|
rs2108128163
|
|
NM_000532.5(PCCB):c.183+5G>A
|
rs879253813
|
|
NM_000532.5(PCCB):c.184-2A>G
|
rs1553774015
|
|
NM_000532.5(PCCB):c.184-49_188delinsTGCTTTGCTTGCTTTGCTTTGCTTT
|
rs1559995259
|
|
NM_000532.5(PCCB):c.187_203del
|
rs2108137253
|
|
NM_000532.5(PCCB):c.2T>C (p.Met1Thr)
|
rs398123462
|
|
NM_000532.5(PCCB):c.2T>G (p.Met1Arg)
|
|
|
NM_000532.5(PCCB):c.2_3delinsAA (p.Met1Lys)
|
|
|
NM_000532.5(PCCB):c.335G>A (p.Gly112Asp)
|
rs202247818
|
|
NM_000532.5(PCCB):c.369_372del (p.Ser123fs)
|
|
|
NM_000532.5(PCCB):c.372+2T>C
|
rs879253814
|
|
NM_000532.5(PCCB):c.386_387delinsAAC (p.Phe129Ter)
|
rs398123463
|
|
NM_000532.5(PCCB):c.386delinsAA (p.Phe129Ter)
|
|
|
NM_000532.5(PCCB):c.415C>T (p.Gln139Ter)
|
|
|
NM_000532.5(PCCB):c.420_421dup (p.Ile141fs)
|
rs1941792521
|
|
NM_000532.5(PCCB):c.427A>T (p.Lys143Ter)
|
|
|
NM_000532.5(PCCB):c.430-1G>A
|
rs2108146606
|
|
NM_000532.5(PCCB):c.433_434insGCTGTTA (p.Met145fs)
|
rs2108146615
|
|
NM_000532.5(PCCB):c.439C>T (p.Gln147Ter)
|
|
|
NM_000532.5(PCCB):c.446dup (p.Thr150fs)
|
|
|
NM_000532.5(PCCB):c.449del (p.Thr150fs)
|
|
|
NM_000532.5(PCCB):c.457G>C (p.Ala153Pro)
|
rs202247819
|
|
NM_000532.5(PCCB):c.461C>T (p.Pro154Leu)
|
|
|
NM_000532.5(PCCB):c.467T>C (p.Ile156Thr)
|
rs1559998737
|
|
NM_000532.5(PCCB):c.483_484del (p.Gly163fs)
|
|
|
NM_000532.5(PCCB):c.487_488dup (p.Ala164fs)
|
rs1553774884
|
|
NM_000532.5(PCCB):c.494G>C (p.Arg165Pro)
|
|
|
NM_000532.5(PCCB):c.499C>T (p.Gln167Ter)
|
|
|
NM_000532.5(PCCB):c.505G>T (p.Gly169Ter)
|
rs1941842008
|
|
NM_000532.5(PCCB):c.517_518del (p.Leu173fs)
|
rs755776820
|
|
NM_000532.5(PCCB):c.553dup (p.Thr185fs)
|
rs777455573
|
|
NM_000532.5(PCCB):c.581_584dup (p.Ile196fs)
|
|
|
NM_000532.5(PCCB):c.59_60del (p.Gly20fs)
|
|
|
NM_000532.5(PCCB):c.600T>A (p.Cys200Ter)
|
rs759098964
|
|
NM_000532.5(PCCB):c.614T>A (p.Val205Asp)
|
rs1303129574
|
|
NM_000532.5(PCCB):c.638del (p.Phe213fs)
|
rs1196443543
|
|
NM_000532.5(PCCB):c.649dup (p.Val217fs)
|
rs796052021
|
|
NM_000532.5(PCCB):c.654+462A>G
|
rs1576327011
|
|
NM_000532.5(PCCB):c.655-2A>G
|
rs1553778865
|
|
NM_000532.5(PCCB):c.683del (p.Pro228fs)
|
rs2108197244
|
|
NM_000532.5(PCCB):c.737G>T (p.Gly246Val)
|
rs2108197348
|
|
NM_000532.5(PCCB):c.751_752del (p.Thr251fs)
|
rs2108197377
|
|
NM_000532.5(PCCB):c.76dup (p.Arg26fs)
|
rs1941479615
|
|
NM_000532.5(PCCB):c.819_843delinsGATTACACGGG (p.Asp273fs)
|
|
|
NM_000532.5(PCCB):c.838dup (p.Leu280fs)
|
rs769968548
|
|
NM_000532.5(PCCB):c.839del (p.Leu280fs)
|
rs1576337935
|
|
NM_000532.5(PCCB):c.847C>T (p.Gln283Ter)
|
|
|
NM_000532.5(PCCB):c.947T>G (p.Met316Arg)
|
rs2108208811
|
|
NM_000532.5(PCCB):c.966+1G>T
|
rs1385850128
|
|
NM_000532.5(PCCB):c.968TTG[1] (p.Val324del)
|
rs1353971489
|
|
NM_000532.5(PCCB):c.990dup (p.Glu331Ter)
|
rs786200983
|
|
NM_000532.5(PCCB):c.991G>T (p.Glu331Ter)
|
rs2108226567
|
|
NM_001001563.5(TIMM50):c.260G>C (p.Gly87Ala)
|
rs776019250
|
|
NM_001001563.5(TIMM50):c.26C>A (p.Ser9Ter)
|
rs35135520
|
|
NM_001001563.5(TIMM50):c.446C>T (p.Thr149Met)
|
rs1244226820
|
|
NM_001001563.5(TIMM50):c.805G>A (p.Gly269Ser)
|
rs797044891
|
|
NM_001081.4(CUBN):c.2614_2615del (p.Asp872fs)
|
rs386833777
|
|
NM_001081.4(CUBN):c.2673C>A (p.Cys891Ter)
|
rs386833778
|
|
NM_001081.4(CUBN):c.3329+1G>T
|
rs1205598688
|
|
NM_001081.4(CUBN):c.3330-439C>G
|
rs386833782
|
|
NM_001081.4(CUBN):c.3335G>A (p.Gly1112Glu)
|
rs2131820786
|
|
NM_001081.4(CUBN):c.4460_4464del (p.Arg1487fs)
|
rs770921101
|
|
NM_001081.4(CUBN):c.6894_6901dup (p.Leu2301Ter)
|
|
|
NM_001081.4(CUBN):c.6928_6934del (p.Glu2310fs)
|
rs757649673
|
|
NM_001081.4(CUBN):c.796G>T (p.Glu266Ter)
|
rs1161400848
|
|
NM_001243279.3(ACSF3):c.1003del (p.Leu335fs)
|
rs2151453936
|
|
NM_001243279.3(ACSF3):c.1028G>A (p.Trp343Ter)
|
rs1131691498
|
|
NM_001243279.3(ACSF3):c.1029G>A (p.Trp343Ter)
|
|
|
NM_001243279.3(ACSF3):c.1073C>T (p.Thr358Ile)
|
rs387907120
|
|
NM_001243279.3(ACSF3):c.1104del (p.Thr369fs)
|
rs769183050
|
|
NM_001243279.3(ACSF3):c.1110del (p.Ala371fs)
|
rs2151454690
|
|
NM_001243279.3(ACSF3):c.1137dup (p.Thr380fs)
|
|
|
NM_001243279.3(ACSF3):c.1172C>G (p.Ser391Ter)
|
|
|
NM_001243279.3(ACSF3):c.1183C>T (p.Gln395Ter)
|
|
|
NM_001243279.3(ACSF3):c.1183_1184del (p.Gln395fs)
|
rs2151478908
|
|
NM_001243279.3(ACSF3):c.1183del (p.Gln395fs)
|
|
|
NM_001243279.3(ACSF3):c.1189del (p.Glu397fs)
|
|
|
NM_001243279.3(ACSF3):c.1219G>T (p.Gly407Ter)
|
|
|
NM_001243279.3(ACSF3):c.1228_1229del (p.Arg410fs)
|
|
|
NM_001243279.3(ACSF3):c.1239+2T>G
|
|
|
NM_001243279.3(ACSF3):c.1270del (p.Glu424fs)
|
rs775794698
|
|
NM_001243279.3(ACSF3):c.1296del (p.Arg434fs)
|
rs764608253
|
|
NM_001243279.3(ACSF3):c.1311G>A (p.Trp437Ter)
|
rs1909702747
|
|
NM_001243279.3(ACSF3):c.1328del (p.Thr443fs)
|
rs2151521127
|
|
NM_001243279.3(ACSF3):c.134del (p.Pro45fs)
|
rs2151405469
|
|
NM_001243279.3(ACSF3):c.1378dup (p.Val460fs)
|
rs751342087
|
|
NM_001243279.3(ACSF3):c.1400G>A (p.Trp467Ter)
|
|
|
NM_001243279.3(ACSF3):c.1401G>A (p.Trp467Ter)
|
rs1912700120
|
|
NM_001243279.3(ACSF3):c.1446_1447del (p.Tyr482_Lys483delinsTer)
|
rs1064793662
|
|
NM_001243279.3(ACSF3):c.1491del (p.Ser498fs)
|
|
|
NM_001243279.3(ACSF3):c.1546dup (p.Val516fs)
|
|
|
NM_001243279.3(ACSF3):c.155_161del (p.Ala52fs)
|
rs745684193
|
|
NM_001243279.3(ACSF3):c.1573G>T (p.Gly525Ter)
|
rs767958353
|
|
NM_001243279.3(ACSF3):c.1602del (p.Glu535fs)
|
|
|
NM_001243279.3(ACSF3):c.1602dup (p.Glu535fs)
|
rs1350227206
|
|
NM_001243279.3(ACSF3):c.1607G>A (p.Trp536Ter)
|
rs779820462
|
|
NM_001243279.3(ACSF3):c.1609del (p.Ala537fs)
|
rs1912887899
|
|
NM_001243279.3(ACSF3):c.1613+2T>C
|
rs2151564932
|
|
NM_001243279.3(ACSF3):c.1632C>A (p.Tyr544Ter)
|
|
|
NM_001243279.3(ACSF3):c.1643C>A (p.Ser548Ter)
|
rs139520739
|
|
NM_001243279.3(ACSF3):c.1645G>T (p.Glu549Ter)
|
|
|
NM_001243279.3(ACSF3):c.16del (p.Val6fs)
|
rs1338859307
|
|
NM_001243279.3(ACSF3):c.184C>T (p.Gln62Ter)
|
|
|
NM_001243279.3(ACSF3):c.186_196dup (p.His66fs)
|
rs1776373606
|
|
NM_001243279.3(ACSF3):c.220dup (p.Arg74fs)
|
|
|
NM_001243279.3(ACSF3):c.238del (p.Gln80fs)
|
|
|
NM_001243279.3(ACSF3):c.261del (p.Cys88fs)
|
rs775569136
|
|
NM_001243279.3(ACSF3):c.286G>T (p.Glu96Ter)
|
rs1975233179
|
|
NM_001243279.3(ACSF3):c.295_296del (p.Ser99fs)
|
|
|
NM_001243279.3(ACSF3):c.323_402dup (p.Glu135delinsThrSerTrpProSerGlyArgHisGlyTer)
|
|
|
NM_001243279.3(ACSF3):c.401_404dup (p.Glu135fs)
|
|
|
NM_001243279.3(ACSF3):c.408T>G (p.Tyr136Ter)
|
rs1313088429
|
|
NM_001243279.3(ACSF3):c.448C>T (p.Gln150Ter)
|
|
|
NM_001243279.3(ACSF3):c.575G>A (p.Trp192Ter)
|
|
|
NM_001243279.3(ACSF3):c.583A>T (p.Lys195Ter)
|
rs1366314967
|
|
NM_001243279.3(ACSF3):c.593T>G (p.Met198Arg)
|
rs387907121
|
|
NM_001243279.3(ACSF3):c.643_647del (p.Thr215fs)
|
rs1567685802
|
|
NM_001243279.3(ACSF3):c.675del (p.Leu226fs)
|
rs1597898076
|
|
NM_001243279.3(ACSF3):c.690G>A (p.Trp230Ter)
|
rs1432097143
|
|
NM_001243279.3(ACSF3):c.757dup (p.Ala253fs)
|
rs1975494455
|
|
NM_001243279.3(ACSF3):c.803del (p.Pro268fs)
|
rs767946490
|
|
NM_001243279.3(ACSF3):c.814_820del (p.Pro272fs)
|
|
|
NM_001243279.3(ACSF3):c.820C>T (p.Gln274Ter)
|
rs2151416957
|
|
NM_001243279.3(ACSF3):c.828G>A (p.Trp276Ter)
|
rs570233664
|
|
NM_001243279.3(ACSF3):c.888dup (p.Tyr297fs)
|
|
|
NM_001243279.3(ACSF3):c.891C>A (p.Tyr297Ter)
|
rs2151444797
|
|
NM_001243279.3(ACSF3):c.896_899dup (p.Met301fs)
|
|
|
NM_001243279.3(ACSF3):c.904G>T (p.Glu302Ter)
|
|
|
NM_001243279.3(ACSF3):c.909C>G (p.Tyr303Ter)
|
|
|
NM_001243279.3(ACSF3):c.928C>T (p.Gln310Ter)
|
|
|
NM_001243279.3(ACSF3):c.940C>T (p.Gln314Ter)
|
|
|
NM_001243279.3(ACSF3):c.953del (p.Arg318fs)
|
|
|
NM_001243279.3(ACSF3):c.973del (p.Ile325fs)
|
|
|
NM_001243279.3(ACSF3):c.[1385A>C;1394_1411del]
|
|
|
NM_001258392.3(CLPB):c.1017C>G (p.Tyr339Ter)
|
|
|
NM_001258392.3(CLPB):c.1167+5G>T
|
rs1565424666
|
|
NM_001258392.3(CLPB):c.1190C>T (p.Pro397Leu)
|
rs2135500838
|
|
NM_001258392.3(CLPB):c.1215_1217inv (p.Glu405_Gly406delinsAspPro)
|
|
|
NM_001258392.3(CLPB):c.1341_1344del (p.Asp448fs)
|
|
|
NM_001258392.3(CLPB):c.1588G>A (p.Gly530Arg)
|
rs2135485868
|
|
NM_001258392.3(CLPB):c.1591C>T (p.Arg531Trp)
|
rs1949512456
|
|
NM_001258392.3(CLPB):c.1595del (p.Ile532fs)
|
rs876657402
|
|
NM_001258392.3(CLPB):c.1682C>T (p.Ala561Val)
|
rs748010262
|
|
NM_001258392.3(CLPB):c.1813_1814delinsAA (p.Ala605Lys)
|
|
|
NM_001258392.3(CLPB):c.1847G>T (p.Gly616Val)
|
rs759500860
|
|
NM_001258392.3(CLPB):c.193G>T (p.Gly65Ter)
|
rs368496010
|
|
NM_001258392.3(CLPB):c.278dup (p.Pro94fs)
|
|
|
NM_001258392.3(CLPB):c.449_451delinsAATAT (p.Val150fs)
|
rs1856508068
|
|
NM_001258392.3(CLPB):c.658C>T (p.Arg220Ter)
|
rs777202372
|
|
NM_001258392.3(CLPB):c.790C>T (p.Gln264Ter)
|
|
|
NM_001258392.3(CLPB):c.871A>T (p.Lys291Ter)
|
rs786205139
|
|
NM_001330540.2(MMACHC):c.-90del
|
|
|
NM_001352514.2(HLCS):c.1025dup (p.Tyr342Ter)
|
rs1601803431
|
|
NM_001352514.2(HLCS):c.1045G>T (p.Glu349Ter)
|
rs148324626
|
|
NM_001352514.2(HLCS):c.1083T>A (p.Cys361Ter)
|
|
|
NM_001352514.2(HLCS):c.1091T>A (p.Leu364Ter)
|
|
|
NM_001352514.2(HLCS):c.1133del (p.Gln378fs)
|
|
|
NM_001352514.2(HLCS):c.1151T>C (p.Leu384Pro)
|
rs119103227
|
|
NM_001352514.2(HLCS):c.1156C>T (p.Gln386Ter)
|
rs2146525207
|
|
NM_001352514.2(HLCS):c.1210del (p.Gln403_Val404insTer)
|
|
|
NM_001352514.2(HLCS):c.1223del (p.Gly408fs)
|
rs771944310
|
|
NM_001352514.2(HLCS):c.1418dup (p.Glu474fs)
|
rs1555955827
|
|
NM_001352514.2(HLCS):c.1444_1456delinsATAGTGCAAACTCCAACATAGTGCAAACT (p.Leu482_Pro486delinsIleValGlnThrProThrTer)
|
|
|
NM_001352514.2(HLCS):c.1445dup (p.Leu482fs)
|
|
|
NM_001352514.2(HLCS):c.1471del (p.Val491fs)
|
|
|
NM_001352514.2(HLCS):c.1494dup (p.Leu500fs)
|
|
|
NM_001352514.2(HLCS):c.1496T>A (p.Leu499Ter)
|
rs1601779091
|
|
NM_001352514.2(HLCS):c.1505C>G (p.Ser502Ter)
|
|
|
NM_001352514.2(HLCS):c.1537_1540del (p.Glu513fs)
|
|
|
NM_001352514.2(HLCS):c.1543del (p.Ile514_Leu515insTer)
|
rs1288789420
|
|
NM_001352514.2(HLCS):c.1552del (p.Gly519fs)
|
rs1569206815
|
|
NM_001352514.2(HLCS):c.1576C>T (p.Gln526Ter)
|
rs1393866282
|
|
NM_001352514.2(HLCS):c.1599_1600del (p.Tyr534fs)
|
|
|
NM_001352514.2(HLCS):c.1600_1604del (p.Tyr534fs)
|
|
|
NM_001352514.2(HLCS):c.1627_1628del (p.Arg543fs)
|
rs2146336516
|
|
NM_001352514.2(HLCS):c.1631del (p.Asp544fs)
|
|
|
NM_001352514.2(HLCS):c.1631dup (p.Asp544fs)
|
|
|
NM_001352514.2(HLCS):c.1634del (p.Pro545fs)
|
rs2146336447
|
|
NM_001352514.2(HLCS):c.1646G>A (p.Trp549Ter)
|
rs1342457304
|
|
NM_001352514.2(HLCS):c.1658_1659del (p.His553fs)
|
|
|
NM_001352514.2(HLCS):c.1698_1701del (p.Leu567fs)
|
rs2065041493
|
|
NM_001352514.2(HLCS):c.1699_1700del (p.Ser566_Leu567insTer)
|
rs1555930523
|
|
NM_001352514.2(HLCS):c.1769dup (p.Met590fs)
|
|
|
NM_001352514.2(HLCS):c.1799T>G (p.Leu600Ter)
|
|
|
NM_001352514.2(HLCS):c.1831C>T (p.Gln611Ter)
|
|
|
NM_001352514.2(HLCS):c.1869del (p.Thr624fs)
|
rs2065031709
|
|
NM_001352514.2(HLCS):c.1910del (p.Pro637fs)
|
|
|
NM_001352514.2(HLCS):c.1980G>A (p.Trp660Ter)
|
|
|
NM_001352514.2(HLCS):c.2030del (p.Leu677fs)
|
|
|
NM_001352514.2(HLCS):c.2038C>T (p.Gln680Ter)
|
|
|
NM_001352514.2(HLCS):c.2041dup (p.Leu681fs)
|
|
|
NM_001352514.2(HLCS):c.2060_2081del (p.Phe687fs)
|
|
|
NM_001352514.2(HLCS):c.2089G>A (p.Val697Met)
|
rs119103231
|
|
NM_001352514.2(HLCS):c.2128_2135delinsTAAAGGGTGA (p.Asn710_Arg712delinsTer)
|
|
|
NM_001352514.2(HLCS):c.2144G>A (p.Trp715Ter)
|
rs1174060268
|
|
NM_001352514.2(HLCS):c.2176A>T (p.Lys726Ter)
|
|
|
NM_001352514.2(HLCS):c.2212_2213del (p.Gly738fs)
|
|
|
NM_001352514.2(HLCS):c.2224del (p.Tyr742fs)
|
|
|
NM_001352514.2(HLCS):c.2279T>C (p.Ile760Thr)
|
rs2145731903
|
|
NM_001352514.2(HLCS):c.2301C>G (p.Tyr767Ter)
|
|
|
NM_001352514.2(HLCS):c.2308C>T (p.Gln770Ter)
|
|
|
NM_001352514.2(HLCS):c.2333T>G (p.Leu778Ter)
|
|
|
NM_001352514.2(HLCS):c.2369_2373del (p.Val790fs)
|
|
|
NM_001352514.2(HLCS):c.2439C>G (p.Tyr813Ter)
|
|
|
NM_001352514.2(HLCS):c.2458del (p.Gln820fs)
|
|
|
NM_001352514.2(HLCS):c.505C>T (p.Gln169Ter)
|
|
|
NM_001352514.2(HLCS):c.513dup (p.Thr172fs)
|
|
|
NM_001352514.2(HLCS):c.535C>T (p.Gln179Ter)
|
rs2066942649
|
|
NM_001352514.2(HLCS):c.655G>T (p.Glu219Ter)
|
|
|
NM_001352514.2(HLCS):c.664C>T (p.Gln222Ter)
|
rs1555957134
|
|
NM_001352514.2(HLCS):c.664_667del (p.Gln222fs)
|
rs776431253
|
|
NM_001352514.2(HLCS):c.691G>T (p.Glu231Ter)
|
rs1569218416
|
|
NM_001352514.2(HLCS):c.726dup (p.Val243fs)
|
|
|
NM_001352514.2(HLCS):c.727del (p.Val243fs)
|
rs2146528200
|
|
NM_001352514.2(HLCS):c.763G>T (p.Glu255Ter)
|
rs937407062
|
|
NM_001352514.2(HLCS):c.863del (p.Ser288fs)
|
rs1015594025
|
|
NM_001352514.2(HLCS):c.958C>T (p.Gln320Ter)
|
|
|
NM_001352514.2(HLCS):c.958del (p.Gln320fs)
|
|
|
NM_001370658.1(BTD):c.*159G>A
|
rs530872564
|
|
NM_001370658.1(BTD):c.-18del
|
rs2064260290
|
|
NM_001370658.1(BTD):c.1021T>G (p.Phe341Val)
|
rs1204990361
|
|
NM_001370658.1(BTD):c.1025T>A (p.Leu342Ter)
|
rs747548016
|
|
NM_001370658.1(BTD):c.1030dup (p.Ile344fs)
|
|
|
NM_001370658.1(BTD):c.1066C>T (p.Gln356Ter)
|
rs760612966
|
|
NM_001370658.1(BTD):c.1082_1097del (p.Asp361fs)
|
|
|
NM_001370658.1(BTD):c.1092dup (p.Lys365fs)
|
|
|
NM_001370658.1(BTD):c.1098G>A (p.Trp366Ter)
|
rs397514434
|
|
NM_001370658.1(BTD):c.1103dup (p.Asn369fs)
|
rs2125504069
|
|
NM_001370658.1(BTD):c.111T>G (p.Tyr37Ter)
|
rs397514339
|
|
NM_001370658.1(BTD):c.1130_1155dup (p.Val386delinsArgTer)
|
|
|
NM_001370658.1(BTD):c.1137G>A (p.Met379Ile)
|
|
|
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.1192T>C (p.Cys398Arg)
|
rs397514408
|
|
NM_001370658.1(BTD):c.1204dup (p.Leu402fs)
|
rs397514411
|
|
NM_001370658.1(BTD):c.1207del (p.Cys403fs)
|
|
|
NM_001370658.1(BTD):c.1211G>A (p.Cys404Tyr)
|
rs397514335
|
|
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.1256C>A (p.Ala419Asp)
|
|
|
NM_001370658.1(BTD):c.1264del (p.Val422fs)
|
rs1057517362
|
|
NM_001370658.1(BTD):c.1274G>A (p.Gly425Glu)
|
rs397514402
|
|
NM_001370658.1(BTD):c.1279C>T (p.His427Tyr)
|
rs397514418
|
|
NM_001370658.1(BTD):c.1292_1293del (p.Gly431fs)
|
rs1553654142
|
|
NM_001370658.1(BTD):c.1309G>A (p.Val437Met)
|
rs146600671
|
|
NM_001370658.1(BTD):c.1312dup (p.Cys438fs)
|
rs587783007
|
|
NM_001370658.1(BTD):c.132G>C (p.Glu44Asp)
|
rs397514436
|
|
NM_001370658.1(BTD):c.1350dup (p.Cys451fs)
|
rs886041559
|
|
NM_001370658.1(BTD):c.1372G>C (p.Ala458Pro)
|
rs181396238
|
|
NM_001370658.1(BTD):c.1387G>T (p.Glu463Ter)
|
rs1559600871
|
|
NM_001370658.1(BTD):c.1399del (p.Trp467fs)
|
rs397514423
|
|
NM_001370658.1(BTD):c.1406A>G (p.Asn469Ser)
|
|
|
NM_001370658.1(BTD):c.1419del (p.Tyr474fs)
|
rs1559600938
|
|
NM_001370658.1(BTD):c.1433dup (p.Leu478fs)
|
rs397514425
|
|
NM_001370658.1(BTD):c.1448_1452del (p.Gly483fs)
|
rs398123138
|
|
NM_001370658.1(BTD):c.1465C>T (p.Pro489Ser)
|
rs1344607767
|
|
NM_001370658.1(BTD):c.1541C>T (p.Ala514Val)
|
rs1210441433
|
|
NM_001370658.1(BTD):c.1543C>T (p.Leu515Phe)
|
rs771537277
|
|
NM_001370658.1(BTD):c.1547_1548del (p.Tyr516fs)
|
|
|
NM_001370658.1(BTD):c.1552C>A (p.Arg518Ser)
|
rs80338686
|
|
NM_001370658.1(BTD):c.1553G>T (p.Arg518Leu)
|
rs397514429
|
|
NM_001370658.1(BTD):c.185C>T (p.Ala62Val)
|
rs397507171
|
|
NM_001370658.1(BTD):c.188T>C (p.Leu63Ser)
|
rs397514347
|
|
NM_001370658.1(BTD):c.202C>T (p.Gln68Ter)
|
rs151071780
|
|
NM_001370658.1(BTD):c.203del (p.Gln68fs)
|
rs1575013953
|
|
NM_001370658.1(BTD):c.218A>G (p.Tyr73Cys)
|
rs397514348
|
|
NM_001370658.1(BTD):c.249+1G>A
|
rs373249212
|
|
NM_001370658.1(BTD):c.256C>T (p.Gln86Ter)
|
rs1553653062
|
|
NM_001370658.1(BTD):c.274G>A (p.Glu92Lys)
|
rs397514352
|
|
NM_001370658.1(BTD):c.282del (p.Ile95fs)
|
rs2065521862
|
|
NM_001370658.1(BTD):c.304A>G (p.Arg102Gly)
|
rs397514354
|
|
NM_001370658.1(BTD):c.333del (p.Phe111fs)
|
rs397514356
|
|
NM_001370658.1(BTD):c.346C>T (p.Gln116Ter)
|
|
|
NM_001370658.1(BTD):c.346del (p.Gln116fs)
|
rs1404904752
|
|
NM_001370658.1(BTD):c.359G>A (p.Trp120Ter)
|
rs2125486425
|
|
NM_001370658.1(BTD):c.364C>A (p.Pro122Thr)
|
rs397514357
|
|
NM_001370658.1(BTD):c.38_44delinsTCC (p.Cys13fs)
|
rs80338684
|
|
NM_001370658.1(BTD):c.395C>G (p.Thr132Arg)
|
rs587783003
|
|
NM_001370658.1(BTD):c.399+2T>G
|
|
|
NM_001370658.1(BTD):c.399G>A (p.Glu133=)
|
rs397514360
|
|
NM_001370658.1(BTD):c.406C>T (p.Gln136Ter)
|
rs397514362
|
|
NM_001370658.1(BTD):c.419G>T (p.Cys140Phe)
|
rs745343884
|
|
NM_001370658.1(BTD):c.41_44del (p.Gly14fs)
|
rs1249246307
|
|
NM_001370658.1(BTD):c.424G>C (p.Ala142Pro)
|
rs2125500236
|
|
NM_001370658.1(BTD):c.430del (p.Arg144fs)
|
|
|
NM_001370658.1(BTD):c.44_45del (p.Cys15fs)
|
rs750965140
|
|
NM_001370658.1(BTD):c.477_478delinsAA (p.Cys159_His160delinsTer)
|
rs2125500515
|
|
NM_001370658.1(BTD):c.47dup (p.Tyr16Ter)
|
rs1057516812
|
|
NM_001370658.1(BTD):c.48C>G (p.Tyr16Ter)
|
|
|
NM_001370658.1(BTD):c.500del (p.Pro167fs)
|
rs2125500629
|
|
NM_001370658.1(BTD):c.516C>A (p.Tyr172Ter)
|
rs766476582
|
|
NM_001370658.1(BTD):c.522C>G (p.Phe174Leu)
|
rs750363004
|
|
NM_001370658.1(BTD):c.527del (p.Thr176fs)
|
rs1553653680
|
|
NM_001370658.1(BTD):c.534_536del (p.Val179del)
|
rs397514373
|
|
NM_001370658.1(BTD):c.545A>T (p.Asn182Ile)
|
rs397514376
|
|
NM_001370658.1(BTD):c.569A>G (p.Tyr190Cys)
|
rs397507174
|
|
NM_001370658.1(BTD):c.56_59dup (p.Gly21fs)
|
rs2125453296
|
|
NM_001370658.1(BTD):c.588C>G (p.Tyr196Ter)
|
rs2065635815
|
|
NM_001370658.1(BTD):c.604G>C (p.Asp202His)
|
rs200337373
|
|
NM_001370658.1(BTD):c.622G>T (p.Asp208Tyr)
|
rs397514380
|
|
NM_001370658.1(BTD):c.623A>G (p.Asp208Gly)
|
rs587783004
|
|
NM_001370658.1(BTD):c.641C>T (p.Thr214Ile)
|
rs587783005
|
|
NM_001370658.1(BTD):c.671C>T (p.Thr224Ile)
|
|
|
NM_001370658.1(BTD):c.686del (p.Leu229fs)
|
|
|
NM_001370658.1(BTD):c.743dup (p.Tyr248Ter)
|
rs2125502078
|
|
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.773T>C (p.Leu258Pro)
|
rs397514389
|
|
NM_001370658.1(BTD):c.798del (p.Ala267fs)
|
rs1575029897
|
|
NM_001370658.1(BTD):c.805G>C (p.Ala269Pro)
|
rs397514334
|
|
NM_001370658.1(BTD):c.835G>C (p.Ala279Pro)
|
rs1157567876
|
|
NM_001370658.1(BTD):c.836C>T (p.Ala279Val)
|
rs397514392
|
|
NM_001370658.1(BTD):c.838A>C (p.Asn280His)
|
rs587783006
|
|
NM_001370658.1(BTD):c.869G>A (p.Gly290Glu)
|
rs397514393
|
|
NM_001370658.1(BTD):c.901dup (p.Trp301fs)
|
|
|
NM_001370658.1(BTD):c.932_941del (p.His311fs)
|
rs773137513
|
|
NM_001370658.1(BTD):c.946C>T (p.Gln316Ter)
|
|
|
NM_001370658.1(BTD):c.950del (p.Val317fs)
|
rs2125503248
|
|
NM_001370658.1(BTD):c.992del (p.Thr331fs)
|
rs397514398
|
|
NM_001386678.1(ACAT1):c.120+2267_120+2268del
|
|
|
NM_001609.4(ACADSB):c.1172del (p.Gly391fs)
|
|
|
NM_001609.4(ACADSB):c.275C>G (p.Ser92Ter)
|
|
|
NM_001609.4(ACADSB):c.356del (p.Leu119fs)
|
|
|
NM_001609.4(ACADSB):c.653dup (p.Val219fs)
|
rs755014798
|
|
NM_001609.4(ACADSB):c.878dup (p.Gly293_Arg294insTer)
|
|
|
NM_001698.2(AUH):c.(?_1)_(418_?)+1del
|
|
|
NM_001698.3(AUH):c.197del (p.Gly66fs)
|
rs1219516037
|
|
NM_001698.3(AUH):c.330+1G>A
|
rs751318305
|
|
NM_001698.3(AUH):c.39dup (p.Ser14fs)
|
|
|
NM_001698.3(AUH):c.419-2A>G
|
|
|
NM_001698.3(AUH):c.471del (p.Phe157fs)
|
|
|
NM_001698.3(AUH):c.516dup (p.Val173fs)
|
|
|
NM_001698.3(AUH):c.559G>A (p.Gly187Ser)
|
rs387906755
|
|
NM_001698.3(AUH):c.650G>A (p.Gly217Asp)
|
rs387906756
|
|
NM_001698.3(AUH):c.895-1G>A
|
rs730880309
|
|
NM_002225.5(IVD):c.1009C>G (p.Arg337Gly)
|
rs776608445
|
|
NM_002225.5(IVD):c.102_103del (p.Val35fs)
|
rs1057517379
|
|
NM_002225.5(IVD):c.1030G>A (p.Ala344Thr)
|
|
|
NM_002225.5(IVD):c.1066G>A (p.Asp356Asn)
|
rs398123679
|
|
NM_002225.5(IVD):c.1071_1072del (p.Ala358fs)
|
rs1891674455
|
|
NM_002225.5(IVD):c.109G>A (p.Asp37Asn)
|
rs2141289961
|
|
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.1204_1210del (p.Ile402fs)
|
|
|
NM_002225.5(IVD):c.1208_1230dup (p.Arg411delinsGlyLeuGlyProAlaArgTer)
|
|
|
NM_002225.5(IVD):c.1229_1256del (p.Arg410fs)
|
rs1555405428
|
|
NM_002225.5(IVD):c.127dup (p.Ser43fs)
|
|
|
NM_002225.5(IVD):c.144+1G>C
|
|
|
NM_002225.5(IVD):c.148C>T (p.Arg50Cys)
|
rs34695403
|
|
NM_002225.5(IVD):c.149G>C (p.Arg50Pro)
|
rs2229311
|
|
NM_002225.5(IVD):c.150del (p.Gln51fs)
|
rs2141301396
|
|
NM_002225.5(IVD):c.163A>T (p.Lys55Ter)
|
|
|
NM_002225.5(IVD):c.199G>T (p.Glu67Ter)
|
rs199865931
|
|
NM_002225.5(IVD):c.225del (p.Asn76fs)
|
rs2141302044
|
|
NM_002225.5(IVD):c.235-1G>A
|
|
|
NM_002225.5(IVD):c.242G>A (p.Trp81Ter)
|
rs767782379
|
|
NM_002225.5(IVD):c.243G>A (p.Trp81Ter)
|
rs540375168
|
|
NM_002225.5(IVD):c.259del (p.Leu87fs)
|
|
|
NM_002225.5(IVD):c.275_285del (p.Ile92fs)
|
|
|
NM_002225.5(IVD):c.285del (p.Val96fs)
|
|
|
NM_002225.5(IVD):c.287-2A>G
|
rs781340220
|
|
NM_002225.5(IVD):c.456+22_510delinsGTTG
|
rs1555403942
|
|
NM_002225.5(IVD):c.457-2A>G
|
rs771914739
|
|
NM_002225.5(IVD):c.457-3_457-2delinsGG
|
rs786204427
|
|
NM_002225.5(IVD):c.506_507insT (p.Gly170fs)
|
|
|
NM_002225.5(IVD):c.541G>T (p.Glu181Ter)
|
rs2141329244
|
|
NM_002225.5(IVD):c.585G>A (p.Trp195Ter)
|
|
|
NM_002225.5(IVD):c.599del (p.Pro200fs)
|
rs1566936542
|
|
NM_002225.5(IVD):c.618del (p.Ile206fs)
|
rs781630355
|
|
NM_002225.5(IVD):c.61_67del (p.Leu21fs)
|
rs1890343709
|
|
NM_002225.5(IVD):c.667dup (p.Thr223fs)
|
|
|
NM_002225.5(IVD):c.669dup (p.Ala224fs)
|
|
|
NM_002225.5(IVD):c.723_724delinsTT (p.Lys242Ter)
|
|
|
NM_002225.5(IVD):c.744dup (p.Asn249Ter)
|
rs1057516769
|
|
NM_002225.5(IVD):c.785-1G>A
|
rs1555404784
|
|
NM_002225.5(IVD):c.838_841del (p.Leu280fs)
|
rs2141351682
|
|
NM_002225.5(IVD):c.870del (p.Pro291fs)
|
rs759159766
|
|
NM_002225.5(IVD):c.870dup (p.Pro291fs)
|
rs759159766
|
|
NM_002225.5(IVD):c.960G>T (p.Gln320His)
|
rs367814475
|
|
NM_002225.5(IVD):c.985_986del (p.Met329fs)
|
|
|
NM_002225.5(IVD):c.995G>T (p.Arg332Leu)
|
rs745464766
|
|
NM_005050.4(ABCD4):c.1125del (p.Trp377fs)
|
rs1440898011
|
|
NM_005050.4(ABCD4):c.1158dup (p.Phe387fs)
|
|
|
NM_005050.4(ABCD4):c.1213_1214dup (p.Asp406fs)
|
|
|
NM_005050.4(ABCD4):c.1294del (p.Arg432fs)
|
rs1435760575
|
|
NM_005050.4(ABCD4):c.1425dup (p.Tyr476fs)
|
|
|
NM_005050.4(ABCD4):c.1438G>T (p.Glu480Ter)
|
|
|
NM_005050.4(ABCD4):c.1456G>T (p.Gly486Cys)
|
rs2080853826
|
|
NM_005050.4(ABCD4):c.1588C>T (p.Gln530Ter)
|
rs767795583
|
|
NM_005050.4(ABCD4):c.1606C>T (p.Arg536Ter)
|
|
|
NM_005050.4(ABCD4):c.1667_1668del (p.Glu556fs)
|
|
|
NM_005050.4(ABCD4):c.1746_1747insCT (p.Glu583fs)
|
rs387907315
|
|
NM_005050.4(ABCD4):c.373del (p.Arg125fs)
|
|
|
NM_005050.4(ABCD4):c.454C>T (p.Arg152Ter)
|
|
|
NM_005050.4(ABCD4):c.7dup (p.Val3fs)
|
|
|
NM_005334.3(HCFC1):c.-970T>C
|
rs398122908
|
|
NM_005334.3(HCFC1):c.217G>A (p.Ala73Thr)
|
rs397515487
|
|
NM_005334.3(HCFC1):c.218C>T (p.Ala73Val)
|
rs397515486
|
|
NM_005334.3(HCFC1):c.344C>T (p.Ala115Val)
|
rs397515485
|
|
NM_005334.3(HCFC1):c.5048C>G (p.Pro1683Arg)
|
rs869312686
|
|
NM_005334.3(HCFC1):c.674G>A (p.Ser225Asn)
|
rs318240758
|
|
NM_006003.3(UQCRFS1):c.215-1G>C
|
rs1568344751
|
|
NM_006003.3(UQCRFS1):c.41T>A (p.Val14Asp)
|
rs1568346416
|
|
NM_006003.3(UQCRFS1):c.610C>T (p.Arg204Ter)
|
rs1242465339
|
|
NM_013247.5(HTRA2):c.1316_1320del (p.Val439fs)
|
rs1057519080
|
|
NM_013247.5(HTRA2):c.728_730delinsCAT (p.Leu243_Pro244delinsProSer)
|
rs1057519082
|
|
NM_013247.5(HTRA2):c.906+1G>C
|
rs1057519081
|
|
NM_014362.4(HIBCH):c.1000C>T (p.Gln334Ter)
|
|
|
NM_014362.4(HIBCH):c.1010_1011+3del
|
|
|
NM_014362.4(HIBCH):c.1012A>T (p.Arg338Ter)
|
rs1364971527
|
|
NM_014362.4(HIBCH):c.1033G>A (p.Gly345Ser)
|
rs770114459
|
|
NM_014362.4(HIBCH):c.1128dup (p.Lys377Ter)
|
rs863225062
|
|
NM_014362.4(HIBCH):c.129dup (p.Gly44fs)
|
rs767597690
|
|
NM_014362.4(HIBCH):c.410C>T (p.Ala137Val)
|
rs1114167288
|
|
NM_014362.4(HIBCH):c.469C>T (p.Arg157Ter)
|
|
|
NM_014362.4(HIBCH):c.609del (p.Gly204fs)
|
rs776592661
|
|
NM_014362.4(HIBCH):c.835G>T (p.Glu279Ter)
|
rs1686562488
|
|
NM_014362.4(HIBCH):c.950G>A (p.Gly317Glu)
|
rs786204004
|
|
NM_014384.2(ACAD8):c.235C>T (p.Arg79Trp)
|
rs377629003
|
|
NM_014384.3(ACAD8):c.1092+1G>A
|
rs572619478
|
|
NM_014384.3(ACAD8):c.1092+1G>C
|
rs572619478
|
|
NM_014384.3(ACAD8):c.133C>T (p.Gln45Ter)
|
rs1591505809
|
|
NM_014384.3(ACAD8):c.348C>A (p.Cys116Ter)
|
rs768701760
|
|
NM_014384.3(ACAD8):c.473A>C (p.Tyr158Ser)
|
|
|
NM_014384.3(ACAD8):c.589G>T (p.Glu197Ter)
|
|
|
NM_014384.3(ACAD8):c.616C>T (p.Arg206Ter)
|
|
|
NM_014384.3(ACAD8):c.867C>A (p.His289Gln)
|
rs121908421
|
|
NM_014384.3(ACAD8):c.886C>T (p.Arg296Ter)
|
|
|
NM_015506.3(MMACHC):c.123dup (p.Pro42fs)
|
rs2149323203
|
|
NM_015506.3(MMACHC):c.126_141del (p.Leu43fs)
|
|
|
NM_015506.3(MMACHC):c.14_24del (p.Val5fs)
|
|
|
NM_015506.3(MMACHC):c.151_152del (p.Leu51fs)
|
|
|
NM_015506.3(MMACHC):c.158T>C (p.Leu53Pro)
|
rs756980496
|
|
NM_015506.3(MMACHC):c.178dup (p.Asp60fs)
|
rs1570829757
|
|
NM_015506.3(MMACHC):c.182G>C (p.Arg61Pro)
|
rs201777449
|
|
NM_015506.3(MMACHC):c.187del (p.Leu63fs)
|
rs1343936481
|
|
NM_015506.3(MMACHC):c.1A>T (p.Met1Leu)
|
|
|
NM_015506.3(MMACHC):c.228_231del (p.Asp77fs)
|
|
|
NM_015506.3(MMACHC):c.270dup (p.Arg91Ter)
|
rs1553162786
|
|
NM_015506.3(MMACHC):c.276G>A (p.Glu92=)
|
rs556977618
|
|
NM_015506.3(MMACHC):c.281_290del (p.Leu94fs)
|
|
|
NM_015506.3(MMACHC):c.285dup (p.Glu96fs)
|
rs1553162821
|
|
NM_015506.3(MMACHC):c.2T>C (p.Met1Thr)
|
rs574983400
|
|
NM_015506.3(MMACHC):c.2T>G (p.Met1Arg)
|
rs574983400
|
|
NM_015506.3(MMACHC):c.310_313del (p.Asp104fs)
|
rs1311416761
|
|
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.321_329delinsACACC (p.Asn110fs)
|
|
|
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.352C>T (p.Gln118Ter)
|
rs2149323575
|
|
NM_015506.3(MMACHC):c.352del (p.Gln118fs)
|
rs749264632
|
|
NM_015506.3(MMACHC):c.364dup (p.His122fs)
|
rs1557607997
|
|
NM_015506.3(MMACHC):c.36del (p.Ile12fs)
|
|
|
NM_015506.3(MMACHC):c.382TAC[2] (p.Tyr130del)
|
rs796051998
|
|
NM_015506.3(MMACHC):c.419G>A (p.Trp140Ter)
|
rs2149323618
|
|
NM_015506.3(MMACHC):c.429+1G>C
|
rs1643668441
|
|
NM_015506.3(MMACHC):c.430-2A>G
|
|
|
NM_015506.3(MMACHC):c.433del (p.Ile145fs)
|
|
|
NM_015506.3(MMACHC):c.435_436del (p.Ser146fs)
|
rs2149323799
|
|
NM_015506.3(MMACHC):c.436_450del (p.Ser146_Ile150del)
|
rs747550590
|
|
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.449T>A (p.Ile150Lys)
|
rs756413692
|
|
NM_015506.3(MMACHC):c.449_452dup (p.Pro152fs)
|
|
|
NM_015506.3(MMACHC):c.464G>A (p.Gly155Glu)
|
rs606231425
|
|
NM_015506.3(MMACHC):c.467G>A (p.Gly156Asp)
|
rs1553162910
|
|
NM_015506.3(MMACHC):c.471G>A (p.Trp157Ter)
|
rs1002571805
|
|
NM_015506.3(MMACHC):c.477_478insCATCCGAGGGGTAGTGCTGCTGCCAGGGATAGAGGTGCCAGATCTGCCACCCAGAAAACCTCATGACTGTGTACCTACAAGAGCTGAC (p.Ile160delinsHisProArgGlySerAlaAlaAlaArgAspArgGlyAlaArgSerAlaThrGlnLysThrSerTer)
|
|
|
NM_015506.3(MMACHC):c.478_481del (p.Ile160fs)
|
rs2149323826
|
|
NM_015506.3(MMACHC):c.481C>G (p.Arg161Gly)
|
rs370596113
|
|
NM_015506.3(MMACHC):c.484G>T (p.Gly162Trp)
|
|
|
NM_015506.3(MMACHC):c.48_49del (p.Cys17fs)
|
rs765960386
|
|
NM_015506.3(MMACHC):c.497dup (p.Pro167fs)
|
rs1481893137
|
|
NM_015506.3(MMACHC):c.500del (p.Pro167fs)
|
rs1553162918
|
|
NM_015506.3(MMACHC):c.506_507del (p.Ile169fs)
|
rs2149323855
|
|
NM_015506.3(MMACHC):c.507_519del (p.Glu170fs)
|
rs1553162923
|
|
NM_015506.3(MMACHC):c.534del (p.Lys178fs)
|
rs2149323872
|
|
NM_015506.3(MMACHC):c.542_545dup (p.Cys182Ter)
|
|
|
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.565C>T (p.Arg189Cys)
|
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.603_604del (p.Asp202fs)
|
rs1643682280
|
|
NM_015506.3(MMACHC):c.614dup (p.Tyr205Ter)
|
|
|
NM_015506.3(MMACHC):c.615C>G (p.Tyr205Ter)
|
rs747527726
|
|
NM_015506.3(MMACHC):c.619del (p.Asp207fs)
|
rs765913293
|
|
NM_015506.3(MMACHC):c.619dup (p.Asp207fs)
|
rs765913293
|
|
NM_015506.3(MMACHC):c.626_627del (p.Val209fs)
|
rs1356587420
|
|
NM_015506.3(MMACHC):c.626dup (p.Thr210fs)
|
rs1570833527
|
|
NM_015506.3(MMACHC):c.634del (p.Gln212fs)
|
|
|
NM_015506.3(MMACHC):c.640dup (p.Arg214fs)
|
|
|
NM_015506.3(MMACHC):c.643T>C (p.Tyr215His)
|
rs755843695
|
|
NM_015506.3(MMACHC):c.647_649del (p.Ser216_Glu217delinsTer)
|
rs2149323994
|
|
NM_015506.3(MMACHC):c.648dup (p.Glu217fs)
|
|
|
NM_015506.3(MMACHC):c.649_650del (p.Glu217fs)
|
rs1363738186
|
|
NM_015506.3(MMACHC):c.658_660del (p.Lys220del)
|
rs398124296
|
|
NM_015506.3(MMACHC):c.661_664dup (p.Tyr222fs)
|
|
|
NM_015506.3(MMACHC):c.81+1G>A
|
rs745366624
|
|
NM_015506.3(MMACHC):c.81+1G>C
|
|
|
NM_015506.3(MMACHC):c.81+1G>T
|
|
|
NM_015506.3(MMACHC):c.81+2T>C
|
|
|
NM_015506.3(MMACHC):c.81+2T>G
|
rs777251123
|
|
NM_015506.3(MMACHC):c.81G>A (p.Gln27=)
|
rs1553162317
|
|
NM_015506.3(MMACHC):c.82-11_82-8del
|
rs751236442
|
|
NM_015506.3(MMACHC):c.82-1G>A
|
rs1255179780
|
|
NM_015506.3(MMACHC):c.82-2A>G
|
|
|
NM_015506.3(MMACHC):c.89G>A (p.Trp30Ter)
|
rs1570829502
|
|
NM_015506.3(MMACHC):c.90G>A (p.Trp30Ter)
|
rs771673343
|
|
NM_015506.3(MMACHC):c.90_97del (p.Trp30_Glu33delinsTer)
|
rs1289618918
|
|
NM_015506.3(MMACHC):c.93C>A (p.Tyr31Ter)
|
|
|
NM_015702.3(MMADHC):c.128_129del (p.His43fs)
|
rs1162948308
|
|
NM_015702.3(MMADHC):c.151dup (p.Ile51fs)
|
|
|
NM_015702.3(MMADHC):c.160C>T (p.Arg54Ter)
|
rs118204047
|
|
NM_015702.3(MMADHC):c.171G>A (p.Trp57Ter)
|
|
|
NM_015702.3(MMADHC):c.202C>T (p.Gln68Ter)
|
|
|
NM_015702.3(MMADHC):c.22dup (p.Arg8fs)
|
|
|
NM_015702.3(MMADHC):c.233_248dup (p.His83_Leu84insArgPheTer)
|
|
|
NM_015702.3(MMADHC):c.240_241insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGGAACATAGGTTTT (p.Asp81delinsPhePhePhePhePhePheXaaXaaXaaXaaLeuThrSerTer)
|
|
|
NM_015702.3(MMADHC):c.24_25del (p.Arg8fs)
|
rs1553454436
|
|
NM_015702.3(MMADHC):c.295_296del (p.Leu99fs)
|
rs1573878695
|
|
NM_015702.3(MMADHC):c.307_324dup (p.Leu103_Ser108dup)
|
rs397509362
|
|
NM_015702.3(MMADHC):c.352C>T (p.Gln118Ter)
|
rs2105048127
|
|
NM_015702.3(MMADHC):c.391dup (p.Glu131fs)
|
|
|
NM_015702.3(MMADHC):c.455dup (p.Cys153fs)
|
rs864309743
|
|
NM_015702.3(MMADHC):c.472C>T (p.Arg158Ter)
|
rs886039425
|
|
NM_015702.3(MMADHC):c.538C>T (p.Gln180Ter)
|
|
|
NM_015702.3(MMADHC):c.544dup (p.Thr182fs)
|
rs1308639482
|
|
NM_015702.3(MMADHC):c.546_547del (p.Lys183fs)
|
|
|
NM_015702.3(MMADHC):c.556_557del (p.Met186fs)
|
rs1682706954
|
|
NM_015702.3(MMADHC):c.566G>A (p.Trp189Ter)
|
|
|
NM_015702.3(MMADHC):c.57_64del (p.Cys19_Ser20insTer)
|
rs397509361
|
|
NM_015702.3(MMADHC):c.585_588del (p.Arg197fs)
|
rs2105045491
|
|
NM_015702.3(MMADHC):c.60_61insAT (p.Leu21fs)
|
rs864309742
|
|
NM_015702.3(MMADHC):c.634dup (p.Cys212fs)
|
|
|
NM_015702.3(MMADHC):c.638_642del (p.Tyr213fs)
|
rs2105042265
|
|
NM_015702.3(MMADHC):c.646C>T (p.Arg216Ter)
|
rs141093638
|
|
NM_015702.3(MMADHC):c.653_654dup (p.Gly219fs)
|
|
|
NM_015702.3(MMADHC):c.663G>A (p.Trp221Ter)
|
rs2105042238
|
|
NM_015702.3(MMADHC):c.692T>A (p.Leu231Ter)
|
rs2105042210
|
|
NM_015702.3(MMADHC):c.696+3_696+6del
|
rs397509364
|
|
NM_015702.3(MMADHC):c.748C>T (p.Arg250Ter)
|
rs118204048
|
|
NM_018368.4(LMBRD1):c.1094_1095del (p.Leu365fs)
|
rs2149844541
|
|
NM_018368.4(LMBRD1):c.1172G>A (p.Trp391Ter)
|
|
|
NM_018368.4(LMBRD1):c.1251dup (p.Leu418fs)
|
|
|
NM_018368.4(LMBRD1):c.1321C>T (p.Gln441Ter)
|
|
|
NM_018368.4(LMBRD1):c.1443C>A (p.Tyr481Ter)
|
|
|
NM_018368.4(LMBRD1):c.229C>T (p.Gln77Ter)
|
|
|
NM_018368.4(LMBRD1):c.317_318del (p.Ser106fs)
|
|
|
NM_018368.4(LMBRD1):c.358del (p.Tyr120fs)
|
|
|
NM_018368.4(LMBRD1):c.373G>T (p.Glu125Ter)
|
|
|
NM_018368.4(LMBRD1):c.376A>T (p.Lys126Ter)
|
|
|
NM_018368.4(LMBRD1):c.399del (p.Lys133fs)
|
rs1562112648
|
|
NM_018368.4(LMBRD1):c.404del (p.Thr135fs)
|
rs1562112641
|
|
NM_018368.4(LMBRD1):c.481_484del (p.Val161fs)
|
|
|
NM_018368.4(LMBRD1):c.515_516del (p.Thr172fs)
|
rs779151199
|
|
NM_018368.4(LMBRD1):c.528del (p.Lys176_Val177insTer)
|
|
|
NM_018368.4(LMBRD1):c.562+4_562+7del
|
|
|
NM_018368.4(LMBRD1):c.614del (p.Met205fs)
|
|
|
NM_018368.4(LMBRD1):c.63dup (p.Leu22fs)
|
|
|
NM_018368.4(LMBRD1):c.741_742del (p.Ile248fs)
|
|
|
NM_018368.4(LMBRD1):c.775C>T (p.Arg259Ter)
|
|
|
NM_018368.4(LMBRD1):c.829C>T (p.Arg277Ter)
|
|
|
NM_018368.4(LMBRD1):c.848_851del (p.Glu283fs)
|
|
|
NM_018368.4(LMBRD1):c.967_970del (p.Leu323fs)
|
rs771477094
|
|
NM_020166.5(MCCC1):c.1003G>T (p.Glu335Ter)
|
|
|
NM_020166.5(MCCC1):c.1074del (p.Trp358fs)
|
rs398124350
|
|
NM_020166.5(MCCC1):c.1126del (p.Thr376fs)
|
|
|
NM_020166.5(MCCC1):c.1129_1130del (p.Leu377fs)
|
rs1714102462
|
|
NM_020166.5(MCCC1):c.1132C>T (p.Gln378Ter)
|
rs2108479383
|
|
NM_020166.5(MCCC1):c.1133dup (p.His380fs)
|
|
|
NM_020166.5(MCCC1):c.1193_1194del (p.Val398fs)
|
rs796051985
|
|
NM_020166.5(MCCC1):c.1205T>G (p.Leu402Ter)
|
rs2108479136
|
|
NM_020166.5(MCCC1):c.1210dup (p.His404fs)
|
rs1577276144
|
|
NM_020166.5(MCCC1):c.123C>A (p.Tyr41Ter)
|
rs2108569910
|
|
NM_020166.5(MCCC1):c.1254_1255del (p.Gly419fs)
|
rs2108478897
|
|
NM_020166.5(MCCC1):c.1257_1263del (p.Val420fs)
|
rs1560224024
|
|
NM_020166.5(MCCC1):c.1263dup (p.Gln422fs)
|
rs762463137
|
|
NM_020166.5(MCCC1):c.1264C>T (p.Gln422Ter)
|
rs2108478837
|
|
NM_020166.5(MCCC1):c.1268-2A>G
|
rs2108474093
|
|
NM_020166.5(MCCC1):c.1310T>C (p.Leu437Pro)
|
rs119103215
|
|
NM_020166.5(MCCC1):c.1333C>T (p.Gln445Ter)
|
rs1453886049
|
|
NM_020166.5(MCCC1):c.1378-2A>G
|
|
|
NM_020166.5(MCCC1):c.1380T>G (p.Ile460Met)
|
rs119103218
|
|
NM_020166.5(MCCC1):c.1518del (p.Glu506fs)
|
|
|
NM_020166.5(MCCC1):c.1522_1544del (p.Leu508fs)
|
rs1713693597
|
|
NM_020166.5(MCCC1):c.1541dup (p.Leu515fs)
|
|
|
NM_020166.5(MCCC1):c.1594G>C (p.Asp532His)
|
rs119103214
|
|
NM_020166.5(MCCC1):c.1604C>T (p.Ser535Phe)
|
rs119103216
|
|
NM_020166.5(MCCC1):c.1630del (p.Arg544fs)
|
|
|
NM_020166.5(MCCC1):c.1651A>T (p.Arg551Ter)
|
rs2108461735
|
|
NM_020166.5(MCCC1):c.1674dup (p.Lys559Ter)
|
|
|
NM_020166.5(MCCC1):c.1679del (p.Asn560fs)
|
|
|
NM_020166.5(MCCC1):c.1679dup (p.Asn560fs)
|
rs1394547323
|
|
NM_020166.5(MCCC1):c.171_172del (p.Gly58fs)
|
rs1311374961
|
|
NM_020166.5(MCCC1):c.1722T>G (p.Tyr574Ter)
|
rs747015041
|
|
NM_020166.5(MCCC1):c.1731+1del
|
|
|
NM_020166.5(MCCC1):c.1750C>T (p.Gln584Ter)
|
|
|
NM_020166.5(MCCC1):c.1777G>T (p.Gly593Ter)
|
|
|
NM_020166.5(MCCC1):c.1792del (p.Tyr597_Leu598insTer)
|
rs2108441513
|
|
NM_020166.5(MCCC1):c.1819_1832del (p.Ser607fs)
|
rs1553850609
|
|
NM_020166.5(MCCC1):c.1853_1856del (p.Ile618fs)
|
rs2108441358
|
|
NM_020166.5(MCCC1):c.1864del (p.Ser622fs)
|
rs1712230544
|
|
NM_020166.5(MCCC1):c.1882G>T (p.Glu628Ter)
|
|
|
NM_020166.5(MCCC1):c.1905del (p.Lys635fs)
|
rs727504001
|
|
NM_020166.5(MCCC1):c.1908C>G (p.Tyr636Ter)
|
rs1311139055
|
|
NM_020166.5(MCCC1):c.1937del (p.Gln646fs)
|
rs1712031289
|
|
NM_020166.5(MCCC1):c.1973_1977+28del
|
rs776641008
|
|
NM_020166.5(MCCC1):c.2014del (p.Asp672fs)
|
|
|
NM_020166.5(MCCC1):c.2088dup (p.Val697fs)
|
rs746267545
|
|
NM_020166.5(MCCC1):c.220C>T (p.Gln74Ter)
|
|
|
NM_020166.5(MCCC1):c.221_224del (p.Gln74fs)
|
rs2108565864
|
|
NM_020166.5(MCCC1):c.227_228del (p.Val76fs)
|
rs1718431677
|
|
NM_020166.5(MCCC1):c.272del (p.Met91fs)
|
|
|
NM_020166.5(MCCC1):c.288T>A (p.Tyr96Ter)
|
|
|
NM_020166.5(MCCC1):c.310C>T (p.Gln104Ter)
|
rs1177891822
|
|
NM_020166.5(MCCC1):c.387C>A (p.Cys129Ter)
|
rs761110034
|
|
NM_020166.5(MCCC1):c.393del (p.Leu132fs)
|
|
|
NM_020166.5(MCCC1):c.425_427delinsAC (p.Cys142fs)
|
rs1716766263
|
|
NM_020166.5(MCCC1):c.435del (p.Gly146fs)
|
rs1486240538
|
|
NM_020166.5(MCCC1):c.448del (p.Phe149_Ile150insTer)
|
|
|
NM_020166.5(MCCC1):c.48del (p.Asn17fs)
|
|
|
NM_020166.5(MCCC1):c.532del (p.Val178fs)
|
|
|
NM_020166.5(MCCC1):c.534_535delinsTT (p.Glu179Ter)
|
rs2108526606
|
|
NM_020166.5(MCCC1):c.556del (p.Gln186fs)
|
rs2108526541
|
|
NM_020166.5(MCCC1):c.558del (p.Gln186fs)
|
rs1212517901
|
|
NM_020166.5(MCCC1):c.611_612dup (p.Lys205fs)
|
|
|
NM_020166.5(MCCC1):c.622del (p.Arg208fs)
|
|
|
NM_020166.5(MCCC1):c.635del (p.Gly212fs)
|
rs2108526355
|
|
NM_020166.5(MCCC1):c.640_641delGG
|
rs886058209
|
|
NM_020166.5(MCCC1):c.658_662del (p.Ser220fs)
|
|
|
NM_020166.5(MCCC1):c.673C>T (p.Gln225Ter)
|
rs779412317
|
|
NM_020166.5(MCCC1):c.676G>T (p.Glu226Ter)
|
rs1553862845
|
|
NM_020166.5(MCCC1):c.682_685del (p.Leu228fs)
|
rs1716637067
|
|
NM_020166.5(MCCC1):c.684dup (p.Glu229fs)
|
|
|
NM_020166.5(MCCC1):c.704del (p.Ala235fs)
|
rs1577328234
|
|
NM_020166.5(MCCC1):c.739_742delinsATAGCATAGC (p.Glu247_Lys248delinsIleAlaTer)
|
rs1560256569
|
|
NM_020166.5(MCCC1):c.762-2A>G
|
|
|
NM_020166.5(MCCC1):c.762-2_762-1del
|
rs2108505736
|
|
NM_020166.5(MCCC1):c.827_828del (p.Asp275_Cys276insTer)
|
|
|
NM_020166.5(MCCC1):c.945T>A (p.Tyr315Ter)
|
rs150862707
|
|
NM_020166.5(MCCC1):c.951_952del (p.Ala318fs)
|
rs2108496973
|
|
NM_020166.5(MCCC1):c.960del (p.Val321fs)
|
|
|
NM_020166.5(MCCC1):c.987_988del (p.His329fs)
|
rs1553856095
|
|
NM_022132.5(MCCC2):c.100C>T (p.Gln34Ter)
|
|
|
NM_022132.5(MCCC2):c.1081C>T (p.Arg361Ter)
|
rs763293192
|
|
NM_022132.5(MCCC2):c.1103del (p.Gly368fs)
|
rs756218448
|
|
NM_022132.5(MCCC2):c.1131_1132del (p.Phe377_Ser378insTer)
|
|
|
NM_022132.5(MCCC2):c.1144_1147inv (p.Lys382_Lys383delinsPheTer)
|
|
|
NM_022132.5(MCCC2):c.1150-1G>A
|
|
|
NM_022132.5(MCCC2):c.1208A>C (p.Asn403Thr)
|
|
|
NM_022132.5(MCCC2):c.1216+2T>A
|
rs1554138265
|
|
NM_022132.5(MCCC2):c.1234del (p.Glu412fs)
|
|
|
NM_022132.5(MCCC2):c.127C>T (p.Gln43Ter)
|
rs2112251855
|
|
NM_022132.5(MCCC2):c.1308_1318del (p.Lys436fs)
|
rs2112467862
|
|
NM_022132.5(MCCC2):c.1350T>A (p.Tyr450Ter)
|
|
|
NM_022132.5(MCCC2):c.1371T>A (p.Tyr457Ter)
|
|
|
NM_022132.5(MCCC2):c.1486C>T (p.Gln496Ter)
|
|
|
NM_022132.5(MCCC2):c.1546_1547insGGCCGGGCGCGGGGGCTCACGCTTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCGGGAGATNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGAAGTTTGAAGAGG (p.Glu515_Glu516insGlyProGlyAlaGlyAlaHisAlaCysAsnProSerThrLeuGlyGlyArgGlyGlyTrpIleThrArgSerGlyAspXaaXaaXaaXaaLysLysLysLysLysLysLysLysPheGluGlu)
|
|
|
NM_022132.5(MCCC2):c.1559A>C (p.Tyr520Ser)
|
rs150327768
|
|
NM_022132.5(MCCC2):c.1635dup (p.Ser546Ter)
|
rs768272570
|
|
NM_022132.5(MCCC2):c.1657dup (p.Ile553fs)
|
|
|
NM_022132.5(MCCC2):c.1676G>A (p.Gly559Asp)
|
|
|
NM_022132.5(MCCC2):c.175C>T (p.Arg59Ter)
|
rs760881963
|
|
NM_022132.5(MCCC2):c.181G>T (p.Glu61Ter)
|
rs752593298
|
|
NM_022132.5(MCCC2):c.190A>T (p.Lys64Ter)
|
rs796051989
|
|
NM_022132.5(MCCC2):c.214C>T (p.Arg72Ter)
|
rs147903984
|
|
NM_022132.5(MCCC2):c.282-1G>C
|
|
|
NM_022132.5(MCCC2):c.318C>A (p.Tyr106Ter)
|
rs2112308910
|
|
NM_022132.5(MCCC2):c.342del (p.Pro115fs)
|
rs2112309156
|
|
NM_022132.5(MCCC2):c.380C>G (p.Ser127Ter)
|
rs398124372
|
|
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.529del (p.Tyr177fs)
|
|
|
NM_022132.5(MCCC2):c.533T>G (p.Leu178Ter)
|
rs2112328709
|
|
NM_022132.5(MCCC2):c.538C>T (p.Arg180Ter)
|
rs780011606
|
|
NM_022132.5(MCCC2):c.557del (p.Pro186fs)
|
rs1745582317
|
|
NM_022132.5(MCCC2):c.569A>G (p.His190Arg)
|
rs119103225
|
|
NM_022132.5(MCCC2):c.581del (p.Thr194fs)
|
rs1190325113
|
|
NM_022132.5(MCCC2):c.5_69del (p.Trp2fs)
|
|
|
NM_022132.5(MCCC2):c.652G>A (p.Ala218Thr)
|
rs886043524
|
|
NM_022132.5(MCCC2):c.663del (p.Tyr222fs)
|
|
|
NM_022132.5(MCCC2):c.688A>G (p.Asn230Asp)
|
rs766753795
|
|
NM_022132.5(MCCC2):c.689del (p.Asn230fs)
|
rs2112412398
|
|
NM_022132.5(MCCC2):c.69del (p.His24fs)
|
|
|
NM_022132.5(MCCC2):c.735del (p.Leu246fs)
|
|
|
NM_022132.5(MCCC2):c.735dup (p.Val247fs)
|
rs770769655
|
|
NM_022132.5(MCCC2):c.739-2A>G
|
rs2112427637
|
|
NM_022132.5(MCCC2):c.739del
|
rs1463802125
|
|
NM_022132.5(MCCC2):c.758_759insT (p.Glu253fs)
|
|
|
NM_022132.5(MCCC2):c.760G>T (p.Glu254Ter)
|
|
|
NM_022132.5(MCCC2):c.76_77del (p.Asp26fs)
|
rs2112251301
|
|
NM_022132.5(MCCC2):c.789del (p.Asp264fs)
|
|
|
NM_022132.5(MCCC2):c.803G>C (p.Arg268Thr)
|
rs119103223
|
|
NM_022132.5(MCCC2):c.823del (p.His275fs)
|
rs2112437401
|
|
NM_022132.5(MCCC2):c.891_892del (p.Lys298fs)
|
rs1580319814
|
|
NM_022132.5(MCCC2):c.913G>T (p.Glu305Ter)
|
rs1746873504
|
|
NM_022132.5(MCCC2):c.929C>G (p.Pro310Arg)
|
rs119103221
|
|
NM_022132.5(MCCC2):c.970_985del (p.Asn324fs)
|
rs2112438432
|
|
NM_022132.5(MCCC2):c.987dup (p.Asp330Ter)
|
rs1554137532
|
|
NM_025136.4(OPA3):c.103G>T (p.Glu35Ter)
|
|
|
NM_025136.4(OPA3):c.143-1G>A
|
|
|
NM_025136.4(OPA3):c.143-1G>C
|
rs80356523
|
|
NM_025136.4(OPA3):c.143-2_143-1delinsCC
|
rs1969382362
|
|
NM_025136.4(OPA3):c.313C>G (p.Gln105Glu)
|
rs80356525
|
|
NM_025136.4(OPA3):c.322_339del (p.Gln108_Glu113del)
|
rs80356526
|
|
NM_025136.4(OPA3):c.32T>A (p.Leu11Gln)
|
rs1969907819
|
|
NM_025136.4(OPA3):c.415C>T (p.Gln139Ter)
|
rs28937899
|
|
NM_030813.6(CLPB):c.654dup (p.Gln219fs)
|
rs1951072912
|
|
NM_030943.4(AMN):c.742C>T (p.Gln248Ter)
|
rs386834177
|
|
NM_032861.4(SERAC1):c.1167_1170del
|
rs772296795
|
|
NM_032861.4(SERAC1):c.116C>G (p.Ser39Ter)
|
|
|
NM_032861.4(SERAC1):c.1211G>A (p.Gly404Glu)
|
|
|
NM_032861.4(SERAC1):c.1266dup (p.Pro423fs)
|
|
|
NM_032861.4(SERAC1):c.1339C>T (p.Arg447Ter)
|
|
|
NM_032861.4(SERAC1):c.1347_1350dup (p.Val451fs)
|
rs780275814
|
|
NM_032861.4(SERAC1):c.134_137del (p.Ser45fs)
|
|
|
NM_032861.4(SERAC1):c.1403+1G>A
|
rs1131690799
|
|
NM_032861.4(SERAC1):c.1403+1G>C
|
rs1131690799
|
|
NM_032861.4(SERAC1):c.1432CTT[1] (p.Leu479del)
|
rs1199625391
|
|
NM_032861.4(SERAC1):c.1504CTT[1] (p.Leu503del)
|
rs759351997
|
|
NM_032861.4(SERAC1):c.1577G>A (p.Gly526Glu)
|
rs1554261079
|
|
NM_032861.4(SERAC1):c.1628_1629dup (p.Val544fs)
|
rs767780913
|
|
NM_032861.4(SERAC1):c.1643_1646dup (p.Leu550fs)
|
rs761964407
|
|
NM_032861.4(SERAC1):c.1850_1851insA (p.Pro618fs)
|
rs2128409409
|
|
NM_032861.4(SERAC1):c.227_228dup (p.Val77fs)
|
rs886041750
|
|
NM_032861.4(SERAC1):c.236_237del (p.Thr79fs)
|
|
|
NM_032861.4(SERAC1):c.310A>T (p.Lys104Ter)
|
|
|
NM_032861.4(SERAC1):c.438del (p.Thr147fs)
|
rs1583595091
|
|
NM_032861.4(SERAC1):c.625G>T (p.Glu209Ter)
|
rs1383515185
|
|
NM_032861.4(SERAC1):c.698_699delinsAGTGATA (p.Leu233Ter)
|
|
|
NM_032861.4(SERAC1):c.777T>G (p.Tyr259Ter)
|
|
|
NM_032861.4(SERAC1):c.91+6T>C
|
rs1554265452
|
|
NM_032861.4(SERAC1):c.92-165C>T
|
rs1562458862
|
|
NM_032861.4(SERAC1):c.92-239G>C
|
rs1562458915
|
|
NM_052845.4(MMAB):c.116del (p.Gly39fs)
|
|
|
NM_052845.4(MMAB):c.135-1G>A
|
rs1566137903
|
|
NM_052845.4(MMAB):c.139C>T (p.Gln47Ter)
|
|
|
NM_052845.4(MMAB):c.197-1G>A
|
rs763935916
|
|
NM_052845.4(MMAB):c.1A>C (p.Met1Leu)
|
rs1884749143
|
|
NM_052845.4(MMAB):c.220G>T (p.Glu74Ter)
|
rs2136208377
|
|
NM_052845.4(MMAB):c.23del (p.Ser8fs)
|
rs2136213668
|
|
NM_052845.4(MMAB):c.266del (p.Thr89fs)
|
|
|
NM_052845.4(MMAB):c.287T>C (p.Ile96Thr)
|
rs864309509
|
|
NM_052845.4(MMAB):c.290G>A (p.Gly97Glu)
|
rs864309511
|
|
NM_052845.4(MMAB):c.291-1G>T
|
rs199971687
|
|
NM_052845.4(MMAB):c.2T>A (p.Met1Lys)
|
|
|
NM_052845.4(MMAB):c.2T>C (p.Met1Thr)
|
rs869320655
|
|
NM_052845.4(MMAB):c.330del (p.Phe110fs)
|
rs2136203888
|
|
NM_052845.4(MMAB):c.334G>T (p.Glu112Ter)
|
|
|
NM_052845.4(MMAB):c.348+2_348+3del
|
rs2136203848
|
|
NM_052845.4(MMAB):c.349-1G>C
|
rs864309510
|
|
NM_052845.4(MMAB):c.357C>A (p.Cys119Ter)
|
|
|
NM_052845.4(MMAB):c.367del (p.Asp123fs)
|
rs1387128853
|
|
NM_052845.4(MMAB):c.422-1G>C
|
rs2136199436
|
|
NM_052845.4(MMAB):c.454G>T (p.Glu152Ter)
|
rs557884699
|
|
NM_052845.4(MMAB):c.460G>T (p.Glu154Ter)
|
rs2136199292
|
|
NM_052845.4(MMAB):c.462G>T (p.Glu154Asp)
|
rs1392513631
|
|
NM_052845.4(MMAB):c.463C>T (p.Gln155Ter)
|
|
|
NM_052845.4(MMAB):c.467G>A (p.Trp156Ter)
|
rs2136199270
|
|
NM_052845.4(MMAB):c.468G>A (p.Trp156Ter)
|
rs1884201610
|
|
NM_052845.4(MMAB):c.487C>T (p.Gln163Ter)
|
rs2136199221
|
|
NM_052845.4(MMAB):c.519+1G>A
|
rs1592998207
|
|
NM_052845.4(MMAB):c.545_570del (p.Leu182fs)
|
|
|
NM_052845.4(MMAB):c.546_555dup (p.Arg186fs)
|
|
|
NM_052845.4(MMAB):c.557G>A (p.Arg186Gln)
|
rs773059864
|
|
NM_052845.4(MMAB):c.558_559delinsC (p.Ala187fs)
|
rs2136198361
|
|
NM_052845.4(MMAB):c.55_57delinsTAA (p.Arg19Ter)
|
|
|
NM_052845.4(MMAB):c.560_561insGGCACGGGC (p.Ala187_Val188insAlaArgAla)
|
rs2136198351
|
|
NM_052845.4(MMAB):c.563T>G (p.Val188Gly)
|
rs869320654
|
|
NM_052845.4(MMAB):c.563_577del (p.Val188_Ala192del)
|
rs1555274496
|
|
NM_052845.4(MMAB):c.563_577dup (p.Val188_Ala192dup)
|
rs1555274496
|
|
NM_052845.4(MMAB):c.565_577del (p.Cys189fs)
|
|
|
NM_052845.4(MMAB):c.567CCG[3] (p.Arg191dup)
|
rs864309512
|
|
NM_052845.4(MMAB):c.569G>A (p.Arg190His)
|
rs756414548
|
|
NM_052845.4(MMAB):c.573_577del (p.Ala192fs)
|
rs1555274497
|
|
NM_052845.4(MMAB):c.574_577del (p.Ala192fs)
|
|
|
NM_052845.4(MMAB):c.574dup (p.Ala192fs)
|
|
|
NM_052845.4(MMAB):c.581_582dup (p.Arg195fs)
|
rs1592997663
|
|
NM_052845.4(MMAB):c.582A>T (p.Arg194Ser)
|
rs1057519147
|
|
NM_052845.4(MMAB):c.585-2A>C
|
rs1555274254
|
|
NM_052845.4(MMAB):c.61dup (p.Cys21fs)
|
rs2136213505
|
|
NM_052845.4(MMAB):c.638T>G (p.Leu213Ter)
|
rs2136195113
|
|
NM_052845.4(MMAB):c.649dup (p.Ser217fs)
|
|
|
NM_052845.4(MMAB):c.650G>T (p.Ser217Ile)
|
rs2136192612
|
|
NM_052845.4(MMAB):c.656_659del (p.Tyr219fs)
|
rs2136192590
|
|
NM_052845.4(MMAB):c.660_661del (p.Phe221fs)
|
rs1383825118
|
|
NM_052845.4(MMAB):c.87T>A (p.Tyr29Ter)
|
rs2136213423
|
|
NM_145261.4(DNAJC19):c.250C>T (p.Arg84Ter)
|
|
|
NM_145261.4(DNAJC19):c.51del (p.Phe17fs)
|
rs1715007577
|
|
NM_145261.4(DNAJC19):c.63C>G (p.Tyr21Ter)
|
rs145786060
|
|
NM_145261.4(DNAJC19):c.63del (p.Arg20_Tyr21insTer)
|
rs2108509666
|
|
NM_172250.3(MMAA):c.1025T>G (p.Met342Arg)
|
rs869320657
|
|
NM_172250.3(MMAA):c.1034del (p.Phe345fs)
|
rs398124552
|
|
NM_172250.3(MMAA):c.1087C>T (p.Gln363Ter)
|
|
|
NM_172250.3(MMAA):c.1098G>A (p.Trp366Ter)
|
|
|
NM_172250.3(MMAA):c.1114C>T (p.Gln372Ter)
|
|
|
NM_172250.3(MMAA):c.1114del (p.Gln372fs)
|
rs765726949
|
|
NM_172250.3(MMAA):c.1117G>T (p.Glu373Ter)
|
|
|
NM_172250.3(MMAA):c.1124del (p.Val375fs)
|
|
|
NM_172250.3(MMAA):c.1196_1197delinsTT (p.Gly399Val)
|
rs1553959152
|
|
NM_172250.3(MMAA):c.1216_1229GCA[2]GACTTCTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGCAGCAGACTTCTT[1] (p.Leu410delinsPhePhePhePhePhePhePheXaaXaaXaaXaaIleArgProProArgProProLysValLeuGlyLeuGlnAlaTer)
|
|
|
NM_172250.3(MMAA):c.1229T>A (p.Leu410Ter)
|
rs1728203978
|
|
NM_172250.3(MMAA):c.124C>T (p.Gln42Ter)
|
rs758345818
|
|
NM_172250.3(MMAA):c.127_134dup (p.Ser46fs)
|
rs2126617138
|
|
NM_172250.3(MMAA):c.139_140del (p.Leu47fs)
|
rs1560795828
|
|
NM_172250.3(MMAA):c.161G>A (p.Trp54Ter)
|
rs864309725
|
|
NM_172250.3(MMAA):c.170del (p.Leu57fs)
|
|
|
NM_172250.3(MMAA):c.184_185del (p.Lys62fs)
|
|
|
NM_172250.3(MMAA):c.202C>T (p.Gln68Ter)
|
rs754894257
|
|
NM_172250.3(MMAA):c.260_261insATAAACTT (p.Asp87delinsGluTer)
|
|
|
NM_172250.3(MMAA):c.260_267dup (p.Tyr90fs)
|
|
|
NM_172250.3(MMAA):c.267_268del (p.Thr91fs)
|
rs1553957906
|
|
NM_172250.3(MMAA):c.290_296del (p.Gln97fs)
|
rs1553957907
|
|
NM_172250.3(MMAA):c.298_312del (p.Cys100_Ala104del)
|
rs780082584
|
|
NM_172250.3(MMAA):c.314dup (p.Thr106fs)
|
rs1727720677
|
|
NM_172250.3(MMAA):c.325G>T (p.Glu109Ter)
|
|
|
NM_172250.3(MMAA):c.358C>T (p.Gln120Ter)
|
rs864309727
|
|
NM_172250.3(MMAA):c.386dup (p.Tyr129Ter)
|
|
|
NM_172250.3(MMAA):c.388del (p.His130fs)
|
|
|
NM_172250.3(MMAA):c.397C>T (p.Gln133Ter)
|
rs754545360
|
|
NM_172250.3(MMAA):c.411_414del (p.Asn137fs)
|
rs1553957931
|
|
NM_172250.3(MMAA):c.441dup (p.Leu148fs)
|
rs1553958126
|
|
NM_172250.3(MMAA):c.443T>A (p.Leu148Ter)
|
|
|
NM_172250.3(MMAA):c.450dup (p.Pro151fs)
|
rs754973022
|
|
NM_172250.3(MMAA):c.455del (p.Pro152fs)
|
rs1553958127
|
|
NM_172250.3(MMAA):c.468dup (p.Ser157fs)
|
rs2126619930
|
|
NM_172250.3(MMAA):c.503del (p.Thr168fs)
|
rs864309728
|
|
NM_172250.3(MMAA):c.527_528del (p.Val176fs)
|
rs1553958158
|
|
NM_172250.3(MMAA):c.54del (p.Ala19fs)
|
|
|
NM_172250.3(MMAA):c.551dup (p.Cys184fs)
|
rs1553958159
|
|
NM_172250.3(MMAA):c.562+1G>A
|
rs869320656
|
|
NM_172250.3(MMAA):c.575G>A (p.Gly192Asp)
|
rs1553958392
|
|
NM_172250.3(MMAA):c.593_596del (p.Thr198fs)
|
rs796051993
|
|
NM_172250.3(MMAA):c.620A>G (p.Tyr207Cys)
|
rs104893849
|
|
NM_172250.3(MMAA):c.639del (p.Arg214fs)
|
rs2126622813
|
|
NM_172250.3(MMAA):c.650T>A (p.Leu217Ter)
|
rs140356252
|
|
NM_172250.3(MMAA):c.697G>T (p.Gly233Ter)
|
rs1727922828
|
|
NM_172250.3(MMAA):c.713_714del (p.Ile238fs)
|
|
|
NM_172250.3(MMAA):c.721A>T (p.Ile241Phe)
|
rs756221585
|
|
NM_172250.3(MMAA):c.728C>A (p.Thr243Asn)
|
rs1553958417
|
|
NM_172250.3(MMAA):c.72C>A (p.Tyr24Ter)
|
rs1553957883
|
|
NM_172250.3(MMAA):c.733+1G>T
|
|
|
NM_172250.3(MMAA):c.762dup (p.Asp255Ter)
|
rs1728076151
|
|
NM_172250.3(MMAA):c.795_796dup (p.Pro266fs)
|
rs2126627182
|
|
NM_172250.3(MMAA):c.817C>T (p.Gln273Ter)
|
|
|
NM_172250.3(MMAA):c.820-1G>A
|
rs1553959017
|
|
NM_172250.3(MMAA):c.851del (p.Asp284fs)
|
|
|
NM_172250.3(MMAA):c.860C>A (p.Ala287Asp)
|
rs1553959024
|
|
NM_172250.3(MMAA):c.875A>T (p.Asp292Val)
|
rs1553959025
|
|
NM_172250.3(MMAA):c.898C>T (p.Arg300Ter)
|
rs1340736923
|
|
NM_172250.3(MMAA):c.940del (p.Arg314fs)
|
|
|
NM_172250.3(MMAA):c.963_969+4del
|
|
|
NM_172250.3(MMAA):c.970-2A>T
|
rs1553959113
|
|
NM_181697.3(PRDX1):c.515-2A>T
|
rs1379672870
|
|
NM_207346.3(TSEN54):c.953del (p.Pro318fs)
|
|
|