ClinVar Miner

List of variants reported as pathogenic for classic organic aciduria

Included ClinVar conditions (46):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1922
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HGVS dbSNP gnomAD frequency
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)

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