NM_001243279.3(ACSF3):c.1075G>A (p.Glu359Lys)
|
rs150487794
|
0.00071
|
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_015506.3(MMACHC):c.617G>A (p.Arg206Gln)
|
rs371753672
|
0.00017
|
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_001370658.1(BTD):c.1429C>T (p.Pro477Ser)
|
rs138818907
|
0.00011
|
NM_002225.5(IVD):c.707C>T (p.Thr236Ile)
|
rs146861563
|
0.00010
|
NM_001243279.3(ACSF3):c.1081G>A (p.Gly361Ser)
|
rs145285434
|
0.00009
|
NM_001370658.1(BTD):c.1395C>G (p.His465Gln)
|
rs201604102
|
0.00009
|
NM_001370658.1(BTD):c.262A>G (p.Ile88Val)
|
rs976185636
|
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_052845.4(MMAB):c.521C>T (p.Ser174Leu)
|
rs140881518
|
0.00007
|
NM_015506.3(MMACHC):c.688C>T (p.Arg230Ter)
|
rs201183360
|
0.00006
|
NM_000532.5(PCCB):c.1127G>A (p.Arg376His)
|
rs142982097
|
0.00005
|
NM_001243279.3(ACSF3):c.246del (p.Cys83fs)
|
rs772073893
|
0.00005
|
NM_001370658.1(BTD):c.383G>A (p.Arg128His)
|
rs367902696
|
0.00005
|
NM_001370658.1(BTD):c.565C>T (p.Arg189Cys)
|
rs369102875
|
0.00005
|
NM_022132.5(MCCC2):c.641G>C (p.Gly214Ala)
|
rs277995
|
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_000282.4(PCCA):c.782A>G (p.Glu261Gly)
|
rs1169861687
|
0.00004
|
NM_000532.5(PCCB):c.1229G>A (p.Arg410Gln)
|
rs778742647
|
0.00004
|
NM_000532.5(PCCB):c.1514T>C (p.Ile505Thr)
|
rs1353542774
|
0.00004
|
NM_001243279.3(ACSF3):c.1553C>A (p.Ala518Asp)
|
rs761852278
|
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_001352514.2(HLCS):c.2260dup (p.Ser754fs)
|
rs766163167
|
0.00004
|
NM_001370658.1(BTD):c.1301A>G (p.Tyr434Cys)
|
rs397514345
|
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_020166.5(MCCC1):c.1331G>A (p.Arg444His)
|
rs768785753
|
0.00004
|
NM_020166.5(MCCC1):c.196C>T (p.Arg66Cys)
|
rs754460336
|
0.00004
|
NM_022132.5(MCCC2):c.1309A>G (p.Ile437Val)
|
rs119103224
|
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_032861.4(SERAC1):c.1763del (p.Val588fs)
|
rs770661156
|
0.00004
|
NM_000019.4(ACAT1):c.951C>T (p.Asp317=)
|
rs747714452
|
0.00003
|
NM_000282.4(PCCA):c.802C>T (p.Arg268Cys)
|
rs774738181
|
0.00003
|
NM_001352514.2(HLCS):c.2121+1G>A
|
rs1175936807
|
0.00003
|
NM_001370658.1(BTD):c.1471C>G (p.Gln491Glu)
|
rs397514427
|
0.00003
|
NM_001370658.1(BTD):c.1568A>T (p.Asp523Val)
|
rs1050035768
|
0.00003
|
NM_001370658.1(BTD):c.322T>G (p.Phe108Val)
|
rs397514355
|
0.00003
|
NM_001370658.1(BTD):c.581A>G (p.Asn194Ser)
|
rs397514377
|
0.00003
|
NM_002225.5(IVD):c.851G>A (p.Arg284Gln)
|
rs373534546
|
0.00003
|
NM_015506.3(MMACHC):c.566G>A (p.Arg189His)
|
rs761221416
|
0.00003
|
NM_022132.5(MCCC2):c.653C>T (p.Ala218Val)
|
rs760420191
|
0.00003
|
NM_000019.4(ACAT1):c.765A>T (p.Glu255Asp)
|
rs794727893
|
0.00002
|
NM_000019.4(ACAT1):c.968T>C (p.Ile323Thr)
|
rs755806238
|
0.00002
|
NM_000532.5(PCCB):c.836C>T (p.Pro279Leu)
|
rs780837200
|
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.576G>A (p.Trp192Ter)
|
rs771558691
|
0.00002
|
NM_001243279.3(ACSF3):c.689G>A (p.Trp230Ter)
|
rs145583876
|
0.00002
|
NM_001243279.3(ACSF3):c.978-1G>A
|
rs756599931
|
0.00002
|
NM_001352514.2(HLCS):c.1808A>G (p.Tyr603Cys)
|
rs781603756
|
0.00002
|
NM_001370658.1(BTD):c.497G>A (p.Cys166Tyr)
|
rs397514369
|
0.00002
|
NM_002225.5(IVD):c.-9A>T
|
rs373594717
|
0.00002
|
NM_002225.5(IVD):c.205G>A (p.Asp69Asn)
|
rs747273828
|
0.00002
|
NM_002225.5(IVD):c.596G>T (p.Gly199Val)
|
rs121434285
|
0.00002
|
NM_002225.5(IVD):c.865G>A (p.Gly289Arg)
|
rs568885234
|
0.00002
|
NM_014384.3(ACAD8):c.905G>A (p.Arg302Gln)
|
rs121908422
|
0.00002
|
NM_015702.3(MMADHC):c.776T>C (p.Leu259Pro)
|
rs118204044
|
0.00002
|
NM_020166.5(MCCC1):c.639+5G>T
|
rs768630906
|
0.00002
|
NM_052845.4(MMAB):c.548A>T (p.His183Leu)
|
rs752866643
|
0.00002
|
NM_000019.4(ACAT1):c.1160T>C (p.Ile387Thr)
|
rs748303093
|
0.00001
|
NM_000019.4(ACAT1):c.1167G>A (p.Met389Ile)
|
rs377295639
|
0.00001
|
NM_000019.4(ACAT1):c.120+1G>C
|
rs779908220
|
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.749del (p.Val250fs)
|
rs1565293957
|
0.00001
|
NM_000019.4(ACAT1):c.826+5_826+9del
|
rs1410743762
|
0.00001
|
NM_000019.4(ACAT1):c.935T>C (p.Ile312Thr)
|
rs120074146
|
0.00001
|
NM_000019.4(ACAT1):c.997G>C (p.Ala333Pro)
|
rs120074147
|
0.00001
|
NM_000191.3(HMGCL):c.497+4A>G
|
rs568718845
|
0.00001
|
NM_000282.4(PCCA):c.1118T>A (p.Met373Lys)
|
rs121964958
|
0.00001
|
NM_000282.4(PCCA):c.1593_1595del (p.Leu532del)
|
rs937519016
|
0.00001
|
NM_000282.4(PCCA):c.1746G>A (p.Ser582=)
|
rs192171304
|
0.00001
|
NM_000282.4(PCCA):c.183+1G>A
|
rs757540625
|
0.00001
|
NM_000282.4(PCCA):c.1997T>A (p.Met666Lys)
|
rs999241357
|
0.00001
|
NM_000282.4(PCCA):c.2002G>A (p.Gly668Arg)
|
rs771438170
|
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.451G>T (p.Glu151Ter)
|
rs2053984648
|
0.00001
|
NM_000282.4(PCCA):c.688C>T (p.Arg230Cys)
|
rs778530330
|
0.00001
|
NM_000532.5(PCCB):c.1309G>A (p.Gly437Ser)
|
rs1349202366
|
0.00001
|
NM_000532.5(PCCB):c.1535G>A (p.Arg512His)
|
rs764697873
|
0.00001
|
NM_000532.5(PCCB):c.1556T>C (p.Leu519Pro)
|
rs202247822
|
0.00001
|
NM_000532.5(PCCB):c.371del (p.Gln124fs)
|
rs1481849460
|
0.00001
|
NM_000532.5(PCCB):c.544-2A>G
|
rs752377212
|
0.00001
|
NM_000532.5(PCCB):c.733G>A (p.Gly245Ser)
|
rs756414710
|
0.00001
|
NM_000532.5(PCCB):c.814C>T (p.Arg272Trp)
|
rs375999824
|
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.1502-2A>G
|
rs1188774860
|
0.00001
|
NM_001243279.3(ACSF3):c.1536G>A (p.Trp512Ter)
|
rs1025201214
|
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.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_001352514.2(HLCS):c.1621-2A>G
|
rs750728042
|
0.00001
|
NM_001352514.2(HLCS):c.2567C>T (p.Pro856Leu)
|
rs1260631800
|
0.00001
|
NM_001370658.1(BTD):c.1193G>C (p.Cys398Ser)
|
rs397514410
|
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.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.320C>T (p.Pro107Leu)
|
rs575787457
|
0.00001
|
NM_001370658.1(BTD):c.409C>T (p.Arg137Cys)
|
rs397514363
|
0.00001
|
NM_001370658.1(BTD):c.572G>A (p.Arg191His)
|
rs112195009
|
0.00001
|
NM_001370658.1(BTD):c.649G>A (p.Ala217Thr)
|
rs397514381
|
0.00001
|
NM_001370658.1(BTD):c.683T>C (p.Ile228Thr)
|
rs397514382
|
0.00001
|
NM_001370658.1(BTD):c.704T>C (p.Ile235Thr)
|
rs397514384
|
0.00001
|
NM_001370658.1(BTD):c.754T>G (p.Trp252Gly)
|
rs397514387
|
0.00001
|
NM_001370658.1(BTD):c.941_942del (p.Ile314fs)
|
rs749162799
|
0.00001
|
NM_001609.4(ACADSB):c.295C>T (p.Gln99Ter)
|
rs760791287
|
0.00001
|
NM_002225.5(IVD):c.1112T>C (p.Val371Ala)
|
rs754600862
|
0.00001
|
NM_002225.5(IVD):c.1184G>A (p.Arg395Gln)
|
rs1477527791
|
0.00001
|
NM_002225.5(IVD):c.1231C>T (p.Arg411Trp)
|
rs1237032588
|
0.00001
|
NM_002225.5(IVD):c.286+2T>C
|
rs748026507
|
0.00001
|
NM_002225.5(IVD):c.784+1G>A
|
rs763471771
|
0.00001
|
NM_014384.3(ACAD8):c.2T>C (p.Met1Thr)
|
rs767041100
|
0.00001
|
NM_015506.3(MMACHC):c.384del (p.Tyr129fs)
|
rs1347498294
|
0.00001
|
NM_015702.3(MMADHC):c.10-1G>C
|
rs1573880177
|
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_020166.5(MCCC1):c.1074G>A (p.Trp358Ter)
|
rs367625370
|
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.1682-3A>G
|
rs760180709
|
0.00001
|
NM_020166.5(MCCC1):c.313C>T (p.Gln105Ter)
|
rs1163620394
|
0.00001
|
NM_020166.5(MCCC1):c.539G>T (p.Gly180Val)
|
rs748201122
|
0.00001
|
NM_020166.5(MCCC1):c.640-2A>G
|
rs772395858
|
0.00001
|
NM_020166.5(MCCC1):c.872del (p.Ala291fs)
|
rs748269732
|
0.00001
|
NM_020166.5(MCCC1):c.89+1G>C
|
rs771730236
|
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.1342G>A (p.Gly448Arg)
|
rs766045910
|
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.1488G>C (p.Gln496His)
|
rs745367639
|
0.00001
|
NM_022132.5(MCCC2):c.230C>G (p.Ser77Ter)
|
rs1304896406
|
0.00001
|
NM_022132.5(MCCC2):c.281+5G>A
|
rs944539388
|
0.00001
|
NM_022132.5(MCCC2):c.302C>T (p.Ser101Phe)
|
rs748028684
|
0.00001
|
NM_022132.5(MCCC2):c.383+2del
|
rs1745349463
|
0.00001
|
NM_022132.5(MCCC2):c.499T>C (p.Cys167Arg)
|
rs119103222
|
0.00001
|
NM_022132.5(MCCC2):c.562C>T (p.Arg188Ter)
|
rs774180632
|
0.00001
|
NM_022132.5(MCCC2):c.578G>A (p.Arg193His)
|
rs535519604
|
0.00001
|
NM_022132.5(MCCC2):c.691A>T (p.Ile231Phe)
|
rs531567604
|
0.00001
|
NM_052845.4(MMAB):c.380C>A (p.Ala127Asp)
|
rs778169806
|
0.00001
|
NM_052845.4(MMAB):c.398C>T (p.Ser133Phe)
|
rs749936057
|
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_172250.3(MMAA):c.365T>C (p.Leu122Pro)
|
rs760875006
|
0.00001
|
NM_172250.3(MMAA):c.434G>A (p.Arg145Gln)
|
rs200577967
|
0.00001
|
NM_000019.4(ACAT1):c.1005+2T>G
|
|
|
NM_000019.4(ACAT1):c.1032AGA[1] (p.Glu345del)
|
rs387906282
|
|
NM_000019.4(ACAT1):c.1049G>A (p.Trp350Ter)
|
rs1367121673
|
|
NM_000019.4(ACAT1):c.1097dup (p.Met366fs)
|
|
|
NM_000019.4(ACAT1):c.1114C>T (p.Gln372Ter)
|
rs2134791667
|
|
NM_000019.4(ACAT1):c.1189C>G (p.His397Asp)
|
rs746332363
|
|
NM_000019.4(ACAT1):c.134dup (p.Ser46fs)
|
rs1444451434
|
|
NM_000019.4(ACAT1):c.184_186delinsA (p.Leu62fs)
|
|
|
NM_000019.4(ACAT1):c.218A>C (p.Gln73Pro)
|
rs779758622
|
|
NM_000019.4(ACAT1):c.240_241insT (p.Ile81fs)
|
|
|
NM_000019.4(ACAT1):c.248AAG[2] (p.Glu85del)
|
rs866364527
|
|
NM_000019.4(ACAT1):c.419T>G (p.Leu140Arg)
|
|
|
NM_000019.4(ACAT1):c.431A>C (p.His144Pro)
|
rs1025180934
|
|
NM_000019.4(ACAT1):c.491_495del (p.Asn164fs)
|
rs2135356039
|
|
NM_000019.4(ACAT1):c.537del (p.Ile179fs)
|
rs1415293773
|
|
NM_000019.4(ACAT1):c.571del (p.Ile191fs)
|
rs761038005
|
|
NM_000019.4(ACAT1):c.580-2A>G
|
|
|
NM_000019.4(ACAT1):c.594_595del (p.Asn199fs)
|
|
|
NM_000019.4(ACAT1):c.626dup (p.Asn209fs)
|
|
|
NM_000019.4(ACAT1):c.649_652del (p.Asn217fs)
|
|
|
NM_000019.4(ACAT1):c.64_72+10del
|
rs1318268067
|
|
NM_000019.4(ACAT1):c.70C>T (p.Gln24Ter)
|
|
|
NM_000019.4(ACAT1):c.716_717del (p.Thr239fs)
|
|
|
NM_000019.4(ACAT1):c.720dup (p.Thr241fs)
|
|
|
NM_000019.4(ACAT1):c.733C>T (p.Gln245Ter)
|
rs2134768525
|
|
NM_000019.4(ACAT1):c.753AGA[1] (p.Glu252del)
|
rs765961551
|
|
NM_000019.4(ACAT1):c.806_807del (p.Thr269fs)
|
|
|
NM_000019.4(ACAT1):c.814del (p.Gln272fs)
|
|
|
NM_000019.4(ACAT1):c.824del (p.Asn275fs)
|
rs1163072872
|
|
NM_000019.4(ACAT1):c.890C>T (p.Thr297Met)
|
rs886041122
|
|
NM_000019.4(ACAT1):c.905del (p.Lys302fs)
|
rs398123097
|
|
NM_000191.3(HMGCL):c.109G>A (p.Glu37Lys)
|
|
|
NM_000191.3(HMGCL):c.124G>A (p.Asp42Asn)
|
|
|
NM_000191.3(HMGCL):c.225C>G (p.Ser75Arg)
|
|
|
NM_000191.3(HMGCL):c.286del (p.Gln96fs)
|
rs1184002840
|
|
NM_000191.3(HMGCL):c.348+1G>C
|
|
|
NM_000191.3(HMGCL):c.349_361del
|
|
|
NM_000191.3(HMGCL):c.501C>A (p.Tyr167Ter)
|
rs200189529
|
|
NM_000191.3(HMGCL):c.521G>A (p.Cys174Tyr)
|
|
|
NM_000191.3(HMGCL):c.528T>A (p.Tyr176Ter)
|
rs112508527
|
|
NM_000191.3(HMGCL):c.610del (p.Asp204fs)
|
rs2148419170
|
|
NM_000191.3(HMGCL):c.704_705dup (p.Asp236fs)
|
|
|
NM_000191.3(HMGCL):c.866del (p.Gly289fs)
|
|
|
NM_000282.4(PCCA):c.105+1G>C
|
|
|
NM_000282.4(PCCA):c.106-1G>A
|
rs769819121
|
|
NM_000282.4(PCCA):c.106-2A>G
|
|
|
NM_000282.4(PCCA):c.1065+1G>A
|
|
|
NM_000282.4(PCCA):c.1095del (p.Gly366fs)
|
|
|
NM_000282.4(PCCA):c.118_122del (p.Tyr40fs)
|
|
|
NM_000282.4(PCCA):c.1315del (p.Ser439fs)
|
|
|
NM_000282.4(PCCA):c.1349C>G (p.Ser450Ter)
|
|
|
NM_000282.4(PCCA):c.1353+5_1353+9del
|
rs764045674
|
|
NM_000282.4(PCCA):c.1541-1G>C
|
|
|
NM_000282.4(PCCA):c.1847_1848del
|
|
|
NM_000282.4(PCCA):c.1860del (p.Ala621fs)
|
|
|
NM_000282.4(PCCA):c.188_189del (p.Thr62_Phe63insTer)
|
|
|
NM_000282.4(PCCA):c.1899+1G>T
|
|
|
NM_000282.4(PCCA):c.1899+4_1899+7del
|
rs794727334
|
|
NM_000282.4(PCCA):c.1900-1G>A
|
rs2152998142
|
|
NM_000282.4(PCCA):c.1987dup (p.Arg663fs)
|
|
|
NM_000282.4(PCCA):c.2002G>T (p.Gly668Ter)
|
|
|
NM_000282.4(PCCA):c.2041-1G>T
|
rs1367867218
|
|
NM_000282.4(PCCA):c.2041_2044del
|
|
|
NM_000282.4(PCCA):c.2086C>T (p.Gln696Ter)
|
|
|
NM_000282.4(PCCA):c.2119-2A>G
|
rs867315913
|
|
NM_000282.4(PCCA):c.2162_2163insAG (p.Asp722fs)
|
rs749875940
|
|
NM_000282.4(PCCA):c.284del (p.Asp95fs)
|
rs775825345
|
|
NM_000282.4(PCCA):c.300+1G>A
|
|
|
NM_000282.4(PCCA):c.315_316insT (p.Ala106fs)
|
|
|
NM_000282.4(PCCA):c.39del (p.Ala14fs)
|
rs1593996563
|
|
NM_000282.4(PCCA):c.412G>A (p.Ala138Thr)
|
rs202247814
|
|
NM_000282.4(PCCA):c.414+1G>C
|
|
|
NM_000282.4(PCCA):c.415-1G>C
|
|
|
NM_000282.4(PCCA):c.425G>A (p.Gly142Asp)
|
rs796052019
|
|
NM_000282.4(PCCA):c.447del (p.Asn149fs)
|
|
|
NM_000282.4(PCCA):c.491T>C (p.Ile164Thr)
|
rs202247815
|
|
NM_000282.4(PCCA):c.587_588dup (p.Gly197fs)
|
|
|
NM_000282.4(PCCA):c.716+2T>C
|
|
|
NM_000282.4(PCCA):c.734C>A (p.Ser245Ter)
|
|
|
NM_000282.4(PCCA):c.820-1G>T
|
|
|
NM_000282.4(PCCA):c.862A>G (p.Arg288Gly)
|
rs121964957
|
|
NM_000282.4(PCCA):c.866_867del (p.Glu289fs)
|
rs760976198
|
|
NM_000282.4(PCCA):c.870C>A (p.Cys290Ter)
|
|
|
NM_000282.4(PCCA):c.889C>T (p.Gln297Ter)
|
|
|
NM_000282.4(PCCA):c.914+1G>A
|
|
|
NM_000411.8(HLCS):c.1681dup
|
|
|
NM_000532.5(PCCB):c.1199-1G>A
|
|
|
NM_000532.5(PCCB):c.1215C>G (p.Tyr405Ter)
|
|
|
NM_000532.5(PCCB):c.1222ATC[1] (p.Ile409del)
|
|
|
NM_000532.5(PCCB):c.1313C>T (p.Ala438Val)
|
|
|
NM_000532.5(PCCB):c.1399-1G>C
|
|
|
NM_000532.5(PCCB):c.1429G>T (p.Glu477Ter)
|
rs1553784921
|
|
NM_000532.5(PCCB):c.1478del (p.Pro493fs)
|
|
|
NM_000532.5(PCCB):c.14T>G (p.Leu5Ter)
|
rs1292452485
|
|
NM_000532.5(PCCB):c.167_179delinsC (p.Asp56_Lys60delinsAla)
|
|
|
NM_000532.5(PCCB):c.183+3G>C
|
rs398123461
|
|
NM_000532.5(PCCB):c.183+5G>A
|
rs879253813
|
|
NM_000532.5(PCCB):c.183+5G>T
|
|
|
NM_000532.5(PCCB):c.184-1G>A
|
rs886044246
|
|
NM_000532.5(PCCB):c.184-2A>C
|
|
|
NM_000532.5(PCCB):c.187_203del
|
rs2108137253
|
|
NM_000532.5(PCCB):c.433_434insGCTGTTA (p.Met145fs)
|
rs2108146615
|
|
NM_000532.5(PCCB):c.446dup (p.Thr150fs)
|
|
|
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.543+2T>G
|
|
|
NM_000532.5(PCCB):c.624_627dup (p.Leu210fs)
|
|
|
NM_000532.5(PCCB):c.638del (p.Phe213fs)
|
rs1196443543
|
|
NM_000532.5(PCCB):c.655-2A>G
|
rs1553778865
|
|
NM_000532.5(PCCB):c.763+2T>A
|
rs1553778914
|
|
NM_000532.5(PCCB):c.847C>T (p.Gln283Ter)
|
|
|
NM_000532.5(PCCB):c.854del (p.Pro285fs)
|
|
|
NM_000532.5(PCCB):c.884+1G>A
|
|
|
NM_000532.5(PCCB):c.967-2A>C
|
rs1553782747
|
|
NM_001243279.3(ACSF3):c.1003del (p.Leu335fs)
|
rs2151453936
|
|
NM_001243279.3(ACSF3):c.1028G>A (p.Trp343Ter)
|
rs1131691498
|
|
NM_001243279.3(ACSF3):c.1110del (p.Ala371fs)
|
rs2151454690
|
|
NM_001243279.3(ACSF3):c.1126+1G>A
|
rs916461556
|
|
NM_001243279.3(ACSF3):c.1172C>G (p.Ser391Ter)
|
|
|
NM_001243279.3(ACSF3):c.119C>A (p.Ser40Ter)
|
|
|
NM_001243279.3(ACSF3):c.1203C>A (p.Tyr401Ter)
|
|
|
NM_001243279.3(ACSF3):c.1239+1G>A
|
|
|
NM_001243279.3(ACSF3):c.1240-1G>A
|
|
|
NM_001243279.3(ACSF3):c.1247del (p.Pro416fs)
|
|
|
NM_001243279.3(ACSF3):c.1270del (p.Glu424fs)
|
rs775794698
|
|
NM_001243279.3(ACSF3):c.1293del (p.Val432fs)
|
|
|
NM_001243279.3(ACSF3):c.1296del (p.Arg434fs)
|
rs764608253
|
|
NM_001243279.3(ACSF3):c.1303G>T (p.Glu435Ter)
|
|
|
NM_001243279.3(ACSF3):c.1324G>T (p.Glu442Ter)
|
|
|
NM_001243279.3(ACSF3):c.1328del (p.Thr443fs)
|
rs2151521127
|
|
NM_001243279.3(ACSF3):c.1331dup (p.Ser445fs)
|
|
|
NM_001243279.3(ACSF3):c.1366+1G>T
|
|
|
NM_001243279.3(ACSF3):c.1367-23_1396del
|
|
|
NM_001243279.3(ACSF3):c.1367-41_1398delinsATCCG
|
|
|
NM_001243279.3(ACSF3):c.1378dup (p.Val460fs)
|
rs751342087
|
|
NM_001243279.3(ACSF3):c.1385_1407delinsCGGAT (p.Lys462_Arg469delinsThrAsp)
|
|
|
NM_001243279.3(ACSF3):c.147_153del (p.Ala50fs)
|
|
|
NM_001243279.3(ACSF3):c.1491dup (p.Ser498fs)
|
|
|
NM_001243279.3(ACSF3):c.1501+1G>A
|
|
|
NM_001243279.3(ACSF3):c.1501+1G>T
|
|
|
NM_001243279.3(ACSF3):c.1546dup (p.Val516fs)
|
|
|
NM_001243279.3(ACSF3):c.155_161del (p.Ala52fs)
|
rs745684193
|
|
NM_001243279.3(ACSF3):c.1563_1564dup (p.Leu522fs)
|
|
|
NM_001243279.3(ACSF3):c.1577dup (p.His526fs)
|
|
|
NM_001243279.3(ACSF3):c.1607G>A (p.Trp536Ter)
|
rs779820462
|
|
NM_001243279.3(ACSF3):c.1609del (p.Ala537fs)
|
rs1912887899
|
|
NM_001243279.3(ACSF3):c.1614-2A>G
|
|
|
NM_001243279.3(ACSF3):c.1624_1631delinsCAGATGC (p.Ala542fs)
|
|
|
NM_001243279.3(ACSF3):c.16del (p.Val6fs)
|
rs1338859307
|
|
NM_001243279.3(ACSF3):c.1718del (p.Phe573fs)
|
rs796051924
|
|
NM_001243279.3(ACSF3):c.191_201del (p.Gly64fs)
|
|
|
NM_001243279.3(ACSF3):c.216T>G (p.Tyr72Ter)
|
|
|
NM_001243279.3(ACSF3):c.261del (p.Cys88fs)
|
rs775569136
|
|
NM_001243279.3(ACSF3):c.265_266del (p.Val89fs)
|
|
|
NM_001243279.3(ACSF3):c.311A>T (p.Asn104Ile)
|
rs1378197369
|
|
NM_001243279.3(ACSF3):c.407_408del (p.Tyr136fs)
|
|
|
NM_001243279.3(ACSF3):c.408T>G (p.Tyr136Ter)
|
rs1313088429
|
|
NM_001243279.3(ACSF3):c.473_481delinsTCCAGGAAGCT (p.Pro158fs)
|
|
|
NM_001243279.3(ACSF3):c.484A>T (p.Lys162Ter)
|
|
|
NM_001243279.3(ACSF3):c.560dup (p.Glu189fs)
|
|
|
NM_001243279.3(ACSF3):c.575G>A (p.Trp192Ter)
|
|
|
NM_001243279.3(ACSF3):c.634G>A (p.Val212Met)
|
|
|
NM_001243279.3(ACSF3):c.653del (p.Asn218fs)
|
|
|
NM_001243279.3(ACSF3):c.667-2A>G
|
|
|
NM_001243279.3(ACSF3):c.690G>A (p.Trp230Ter)
|
rs1432097143
|
|
NM_001243279.3(ACSF3):c.749_750del (p.Val250fs)
|
|
|
NM_001243279.3(ACSF3):c.757dup (p.Ala253fs)
|
rs1975494455
|
|
NM_001243279.3(ACSF3):c.797_800dup (p.Met267fs)
|
|
|
NM_001243279.3(ACSF3):c.803del (p.Pro268fs)
|
rs767946490
|
|
NM_001243279.3(ACSF3):c.822+1G>A
|
rs2151416991
|
|
NM_001243279.3(ACSF3):c.822+2T>C
|
rs1975502704
|
|
NM_001243279.3(ACSF3):c.829G>T (p.Glu277Ter)
|
|
|
NM_001243279.3(ACSF3):c.891C>A (p.Tyr297Ter)
|
rs2151444797
|
|
NM_001243279.3(ACSF3):c.909C>G (p.Tyr303Ter)
|
|
|
NM_001243279.3(ACSF3):c.940C>T (p.Gln314Ter)
|
|
|
NM_001243279.3(ACSF3):c.967del (p.Glu323fs)
|
|
|
NM_001243279.3(ACSF3):c.977+1G>A
|
|
|
NM_001243279.3(ACSF3):c.977+1G>C
|
rs141056046
|
|
NM_001243279.3(ACSF3):c.977+1G>T
|
|
|
NM_001258392.3(CLPB):c.455+1G>A
|
rs1856507751
|
|
NM_001352514.2(HLCS):c.1045G>T (p.Glu349Ter)
|
rs148324626
|
|
NM_001352514.2(HLCS):c.1063_1064del (p.Asp355fs)
|
|
|
NM_001352514.2(HLCS):c.1083T>A (p.Cys361Ter)
|
|
|
NM_001352514.2(HLCS):c.1133del (p.Gln378fs)
|
|
|
NM_001352514.2(HLCS):c.1219_1222dup (p.Gly408fs)
|
|
|
NM_001352514.2(HLCS):c.1223dup (p.Ala409fs)
|
|
|
NM_001352514.2(HLCS):c.1289del (p.Ser430fs)
|
|
|
NM_001352514.2(HLCS):c.1326del (p.Val443fs)
|
|
|
NM_001352514.2(HLCS):c.1434C>A (p.Cys478Ter)
|
rs2066882139
|
|
NM_001352514.2(HLCS):c.1550_1551insT (p.Leu518fs)
|
|
|
NM_001352514.2(HLCS):c.1600_1604del (p.Tyr534fs)
|
|
|
NM_001352514.2(HLCS):c.1631del (p.Asp544fs)
|
|
|
NM_001352514.2(HLCS):c.1646G>A (p.Trp549Ter)
|
rs1342457304
|
|
NM_001352514.2(HLCS):c.1658_1659del (p.His553fs)
|
|
|
NM_001352514.2(HLCS):c.1699_1700del (p.Ser566_Leu567insTer)
|
rs1555930523
|
|
NM_001352514.2(HLCS):c.1705_1733dup (p.Glu578delinsAspLeuPheHisProThrCysLeuLysTer)
|
|
|
NM_001352514.2(HLCS):c.1869del (p.Thr624fs)
|
rs2065031709
|
|
NM_001352514.2(HLCS):c.1892+1G>A
|
|
|
NM_001352514.2(HLCS):c.1961-2A>G
|
|
|
NM_001352514.2(HLCS):c.1974T>A (p.Asn658Lys)
|
|
|
NM_001352514.2(HLCS):c.2185G>A (p.Gly729Arg)
|
|
|
NM_001352514.2(HLCS):c.2237-2A>G
|
|
|
NM_001352514.2(HLCS):c.2341G>T (p.Asp781Tyr)
|
|
|
NM_001352514.2(HLCS):c.2450+2T>A
|
|
|
NM_001352514.2(HLCS):c.331-1G>C
|
|
|
NM_001352514.2(HLCS):c.476dup (p.Pro160fs)
|
|
|
NM_001352514.2(HLCS):c.494-1G>A
|
|
|
NM_001352514.2(HLCS):c.513dup (p.Thr172fs)
|
|
|
NM_001352514.2(HLCS):c.726dup (p.Val243fs)
|
|
|
NM_001352514.2(HLCS):c.857del (p.Leu286fs)
|
|
|
NM_001352514.2(HLCS):c.863del (p.Ser288fs)
|
rs1015594025
|
|
NM_001352514.2(HLCS):c.929del (p.Asn310fs)
|
|
|
NM_001352514.2(HLCS):c.958del (p.Gln320fs)
|
|
|
NM_001370658.1(BTD):c.-18A>T
|
rs143058480
|
|
NM_001370658.1(BTD):c.-24A>T
|
|
|
NM_001370658.1(BTD):c.1192T>C (p.Cys398Arg)
|
rs397514408
|
|
NM_001370658.1(BTD):c.1247_1248del (p.Glu416fs)
|
rs1057517225
|
|
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.1466C>G (p.Pro489Arg)
|
rs1559601041
|
|
NM_001370658.1(BTD):c.1503del (p.Arg502fs)
|
rs1163419871
|
|
NM_001370658.1(BTD):c.167del (p.Leu56fs)
|
|
|
NM_001370658.1(BTD):c.399G>A (p.Glu133=)
|
rs397514360
|
|
NM_001370658.1(BTD):c.419G>A (p.Cys140Tyr)
|
|
|
NM_001370658.1(BTD):c.466A>T (p.Lys156Ter)
|
|
|
NM_001370658.1(BTD):c.522C>G (p.Phe174Leu)
|
rs750363004
|
|
NM_001370658.1(BTD):c.52del (p.Val18fs)
|
|
|
NM_001370658.1(BTD):c.545A>T (p.Asn182Ile)
|
rs397514376
|
|
NM_001370658.1(BTD):c.589_591delinsAGTA (p.Phe197fs)
|
rs1553653732
|
|
NM_001370658.1(BTD):c.594G>C (p.Glu198Asp)
|
rs397514379
|
|
NM_001370658.1(BTD):c.622G>T (p.Asp208Tyr)
|
rs397514380
|
|
NM_001370658.1(BTD):c.773T>C (p.Leu258Pro)
|
rs397514389
|
|
NM_001370658.1(BTD):c.799del (p.Ala267fs)
|
|
|
NM_001370658.1(BTD):c.835G>C (p.Ala279Pro)
|
rs1157567876
|
|
NM_001370658.1(BTD):c.932_941del (p.His311fs)
|
rs773137513
|
|
NM_001609.4(ACADSB):c.1228+1G>A
|
rs943046481
|
|
NM_002225.5(IVD):c.1007G>A (p.Cys336Tyr)
|
|
|
NM_002225.5(IVD):c.1066G>A (p.Asp356Asn)
|
rs398123679
|
|
NM_002225.5(IVD):c.1066del
|
|
|
NM_002225.5(IVD):c.1087dup (p.Tyr363fs)
|
|
|
NM_002225.5(IVD):c.109G>A (p.Asp37Asn)
|
rs2141289961
|
|
NM_002225.5(IVD):c.1140del (p.Gly381fs)
|
|
|
NM_002225.5(IVD):c.144+1G>A
|
rs928991928
|
|
NM_002225.5(IVD):c.148C>T (p.Arg50Cys)
|
rs34695403
|
|
NM_002225.5(IVD):c.294T>G (p.Tyr98Ter)
|
|
|
NM_002225.5(IVD):c.350G>A (p.Arg117Gln)
|
rs145725101
|
|
NM_002225.5(IVD):c.394del (p.Leu132fs)
|
|
|
NM_002225.5(IVD):c.433C>T (p.Gln145Ter)
|
|
|
NM_002225.5(IVD):c.457-2A>C
|
|
|
NM_002225.5(IVD):c.45del (p.Ser14_Trp15insTer)
|
|
|
NM_002225.5(IVD):c.464GTG[3] (p.Gly156dup)
|
rs796051982
|
|
NM_002225.5(IVD):c.467G>C (p.Gly156Ala)
|
rs1221254988
|
|
NM_002225.5(IVD):c.526A>G (p.Met176Val)
|
|
|
NM_002225.5(IVD):c.581del (p.Phe194fs)
|
|
|
NM_002225.5(IVD):c.599del (p.Pro200fs)
|
rs1566936542
|
|
NM_002225.5(IVD):c.618del (p.Ile206fs)
|
rs781630355
|
|
NM_002225.5(IVD):c.631A>G (p.Thr211Ala)
|
|
|
NM_002225.5(IVD):c.634_635del (p.Asp212fs)
|
|
|
NM_002225.5(IVD):c.761_785-762del
|
|
|
NM_002225.5(IVD):c.822del (p.Val273_Tyr274insTer)
|
|
|
NM_002225.5(IVD):c.832A>G (p.Ser278Gly)
|
|
|
NM_002225.5(IVD):c.850C>T (p.Arg284Trp)
|
|
|
NM_002225.5(IVD):c.878+2T>C
|
|
|
NM_002225.5(IVD):c.928del (p.Glu310fs)
|
|
|
NM_002225.5(IVD):c.960+1G>A
|
|
|
NM_002225.5(IVD):c.960G>T (p.Gln320His)
|
rs367814475
|
|
NM_002225.5(IVD):c.986T>C (p.Met329Thr)
|
|
|
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.189_196dup (p.Phe66fs)
|
|
|
NM_015506.3(MMACHC):c.202C>T (p.Gln68Ter)
|
rs1570829862
|
|
NM_015506.3(MMACHC):c.275_278del (p.Glu92fs)
|
rs1553162788
|
|
NM_015506.3(MMACHC):c.2T>C (p.Met1Thr)
|
rs574983400
|
|
NM_015506.3(MMACHC):c.435_436del (p.Ser146fs)
|
rs2149323799
|
|
NM_015506.3(MMACHC):c.451_461del (p.His151fs)
|
|
|
NM_015506.3(MMACHC):c.452A>G (p.His151Arg)
|
|
|
NM_015506.3(MMACHC):c.467G>A (p.Gly156Asp)
|
rs1553162910
|
|
NM_015506.3(MMACHC):c.481C>G (p.Arg161Gly)
|
rs370596113
|
|
NM_015506.3(MMACHC):c.487del (p.Gly162_Val163insTer)
|
|
|
NM_015506.3(MMACHC):c.506_507del (p.Ile169fs)
|
rs2149323855
|
|
NM_015506.3(MMACHC):c.51T>A (p.Cys17Ter)
|
|
|
NM_015506.3(MMACHC):c.542_545dup (p.Cys182Ter)
|
|
|
NM_015506.3(MMACHC):c.565C>T (p.Arg189Cys)
|
rs200895671
|
|
NM_015506.3(MMACHC):c.600del (p.Trp200fs)
|
|
|
NM_015506.3(MMACHC):c.617G>C (p.Arg206Pro)
|
rs371753672
|
|
NM_015506.3(MMACHC):c.624del (p.Ala208_Val209insTer)
|
|
|
NM_015506.3(MMACHC):c.675_679del (p.Pro226fs)
|
|
|
NM_015506.3(MMACHC):c.685C>T (p.Gln229Ter)
|
|
|
NM_015506.3(MMACHC):c.82-11_82-8del
|
rs751236442
|
|
NM_015702.3(MMADHC):c.128_129del (p.His43fs)
|
rs1162948308
|
|
NM_015702.3(MMADHC):c.373-2A>G
|
|
|
NM_015702.3(MMADHC):c.479-2A>G
|
|
|
NM_015702.3(MMADHC):c.563_566del (p.Val188fs)
|
|
|
NM_015702.3(MMADHC):c.567_571del (p.Trp189_Glu191delinsTer)
|
|
|
NM_015702.3(MMADHC):c.610-1G>A
|
|
|
NM_015702.3(MMADHC):c.663G>A (p.Trp221Ter)
|
rs2105042238
|
|
NM_015702.3(MMADHC):c.664del (p.Ala222fs)
|
|
|
NM_015702.3(MMADHC):c.728_729del (p.Leu242_Phe243insTer)
|
|
|
NM_015702.3(MMADHC):c.737A>G (p.Asp246Gly)
|
rs1408840913
|
|
NM_015702.3(MMADHC):c.739G>T (p.Glu247Ter)
|
|
|
NM_015702.3(MMADHC):c.748C>T (p.Arg250Ter)
|
rs118204048
|
|
NM_015702.3(MMADHC):c.755T>G (p.Leu252Ter)
|
|
|
NM_015702.3(MMADHC):c.9+1G>A
|
|
|
NM_020166.5(MCCC1):c.1114del (p.Gln372fs)
|
|
|
NM_020166.5(MCCC1):c.1129_1130del (p.Leu377fs)
|
rs1714102462
|
|
NM_020166.5(MCCC1):c.1518del (p.Glu506fs)
|
|
|
NM_020166.5(MCCC1):c.1585C>T (p.Gln529Ter)
|
|
|
NM_020166.5(MCCC1):c.1594+1G>A
|
rs966900131
|
|
NM_020166.5(MCCC1):c.1605_1606del (p.Pro536fs)
|
|
|
NM_020166.5(MCCC1):c.1630del (p.Arg544fs)
|
|
|
NM_020166.5(MCCC1):c.1663_1664dup (p.Lys556fs)
|
|
|
NM_020166.5(MCCC1):c.1669delinsAA (p.Asp557fs)
|
|
|
NM_020166.5(MCCC1):c.1681+5G>A
|
|
|
NM_020166.5(MCCC1):c.1682-1G>A
|
|
|
NM_020166.5(MCCC1):c.1699_1703del (p.Val566_Thr567insTer)
|
|
|
NM_020166.5(MCCC1):c.171_172del (p.Gly58fs)
|
rs1311374961
|
|
NM_020166.5(MCCC1):c.1729C>T (p.Gln577Ter)
|
|
|
NM_020166.5(MCCC1):c.1750_1756del (p.Gln584fs)
|
|
|
NM_020166.5(MCCC1):c.1792del (p.Tyr597_Leu598insTer)
|
rs2108441513
|
|
NM_020166.5(MCCC1):c.1869+1G>A
|
|
|
NM_020166.5(MCCC1):c.1873G>T (p.Gly625Ter)
|
|
|
NM_020166.5(MCCC1):c.1908C>G (p.Tyr636Ter)
|
rs1311139055
|
|
NM_020166.5(MCCC1):c.191_192del (p.Val64fs)
|
|
|
NM_020166.5(MCCC1):c.2000_2001del (p.Lys667fs)
|
|
|
NM_020166.5(MCCC1):c.210_211insT (p.Leu71fs)
|
|
|
NM_020166.5(MCCC1):c.310C>T (p.Gln104Ter)
|
rs1177891822
|
|
NM_020166.5(MCCC1):c.341_344del (p.Ile114fs)
|
|
|
NM_020166.5(MCCC1):c.367C>T (p.Gln123Ter)
|
|
|
NM_020166.5(MCCC1):c.534_535delinsTT (p.Glu179Ter)
|
rs2108526606
|
|
NM_020166.5(MCCC1):c.548del (p.Gly183fs)
|
|
|
NM_020166.5(MCCC1):c.622del (p.Arg208fs)
|
|
|
NM_020166.5(MCCC1):c.640-1G>A
|
rs727504005
|
|
NM_020166.5(MCCC1):c.676G>T (p.Glu226Ter)
|
rs1553862845
|
|
NM_020166.5(MCCC1):c.700_701del (p.Glu234fs)
|
|
|
NM_020166.5(MCCC1):c.716_720del (p.Ser238_Phe239insTer)
|
|
|
NM_020166.5(MCCC1):c.826T>C (p.Cys276Arg)
|
|
|
NM_020166.5(MCCC1):c.866C>T (p.Ala289Val)
|
|
|
NM_020166.5(MCCC1):c.89+2_89+4del
|
|
|
NM_022132.5(MCCC2):c.1000-2A>G
|
rs2112453728
|
|
NM_022132.5(MCCC2):c.1073-12C>G
|
|
|
NM_022132.5(MCCC2):c.1081C>T (p.Arg361Ter)
|
rs763293192
|
|
NM_022132.5(MCCC2):c.1149+1G>A
|
rs2112460011
|
|
NM_022132.5(MCCC2):c.1150-2A>G
|
|
|
NM_022132.5(MCCC2):c.1208A>C (p.Asn403Thr)
|
|
|
NM_022132.5(MCCC2):c.1216+1G>A
|
|
|
NM_022132.5(MCCC2):c.1216+1G>T
|
|
|
NM_022132.5(MCCC2):c.1216+2T>A
|
rs1554138265
|
|
NM_022132.5(MCCC2):c.1216+2T>C
|
rs1554138265
|
|
NM_022132.5(MCCC2):c.127C>T (p.Gln43Ter)
|
rs2112251855
|
|
NM_022132.5(MCCC2):c.130-2A>G
|
|
|
NM_022132.5(MCCC2):c.1375C>T (p.Pro459Ser)
|
|
|
NM_022132.5(MCCC2):c.1378A>T (p.Arg460Ter)
|
|
|
NM_022132.5(MCCC2):c.1378dup (p.Arg460fs)
|
|
|
NM_022132.5(MCCC2):c.1559A>G (p.Tyr520Cys)
|
|
|
NM_022132.5(MCCC2):c.1570G>A (p.Ala524Thr)
|
|
|
NM_022132.5(MCCC2):c.1574+1G>T
|
rs730880265
|
|
NM_022132.5(MCCC2):c.1581G>A (p.Trp527Ter)
|
|
|
NM_022132.5(MCCC2):c.1635dup (p.Ser546Ter)
|
rs768272570
|
|
NM_022132.5(MCCC2):c.175C>T (p.Arg59Ter)
|
rs760881963
|
|
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.281+1del
|
|
|
NM_022132.5(MCCC2):c.281+2T>C
|
|
|
NM_022132.5(MCCC2):c.351_353del (p.Gly118del)
|
rs758794885
|
|
NM_022132.5(MCCC2):c.437dup (p.Tyr146Ter)
|
|
|
NM_022132.5(MCCC2):c.511+2_511+3delinsGG
|
|
|
NM_022132.5(MCCC2):c.531C>A (p.Tyr177Ter)
|
|
|
NM_022132.5(MCCC2):c.581del (p.Thr194fs)
|
rs1190325113
|
|
NM_022132.5(MCCC2):c.588T>A (p.Tyr196Ter)
|
|
|
NM_022132.5(MCCC2):c.608del (p.Ser203fs)
|
|
|
NM_022132.5(MCCC2):c.652G>A (p.Ala218Thr)
|
rs886043524
|
|
NM_022132.5(MCCC2):c.688A>G (p.Asn230Asp)
|
rs766753795
|
|
NM_022132.5(MCCC2):c.689del (p.Asn230fs)
|
rs2112412398
|
|
NM_022132.5(MCCC2):c.70del (p.His24fs)
|
|
|
NM_022132.5(MCCC2):c.739-2A>G
|
rs2112427637
|
|
NM_022132.5(MCCC2):c.739del
|
rs1463802125
|
|
NM_022132.5(MCCC2):c.759_760delinsC (p.Glu253fs)
|
|
|
NM_022132.5(MCCC2):c.760G>T (p.Glu254Ter)
|
|
|
NM_022132.5(MCCC2):c.803+1G>A
|
|
|
NM_022132.5(MCCC2):c.803+2T>C
|
|
|
NM_022132.5(MCCC2):c.826del (p.Trp276fs)
|
|
|
NM_022132.5(MCCC2):c.920dup (p.Ser307_Glu308insTer)
|
|
|
NM_022132.5(MCCC2):c.929C>G (p.Pro310Arg)
|
rs119103221
|
|
NM_022132.5(MCCC2):c.953A>G (p.Tyr318Cys)
|
|
|
NM_022132.5(MCCC2):c.990_996dup (p.Glu333fs)
|
|
|
NM_025136.4(OPA3):c.142+1G>A
|
rs1555736793
|
|
NM_025136.4(OPA3):c.217G>T (p.Glu73Ter)
|
|
|
NM_025136.4(OPA3):c.227dup (p.Ala77fs)
|
|
|
NM_025136.4(OPA3):c.287del (p.Cys96fs)
|
|
|
NM_025136.4(OPA3):c.313C>T (p.Gln105Ter)
|
|
|
NM_025136.4(OPA3):c.45del (p.Ile16fs)
|
|
|
NM_025136.4(OPA3):c.97C>T (p.Arg33Ter)
|
|
|
NM_052845.4(MMAB):c.112C>T (p.Gln38Ter)
|
|
|
NM_052845.4(MMAB):c.290+1G>A
|
rs1351673148
|
|
NM_052845.4(MMAB):c.32del (p.Gly11fs)
|
|
|
NM_052845.4(MMAB):c.502dup (p.Thr168fs)
|
|
|
NM_052845.4(MMAB):c.539C>A (p.Ser180Ter)
|
|
|
NM_052845.4(MMAB):c.541_554dup (p.Cys185fs)
|
|
|
NM_052845.4(MMAB):c.574_577del (p.Ala192fs)
|
|
|
NM_052845.4(MMAB):c.63C>A (p.Cys21Ter)
|
|
|
NM_172250.3(MMAA):c.1042del (p.Asp347_Leu348insTer)
|
|
|
NM_172250.3(MMAA):c.1098G>A (p.Trp366Ter)
|
|
|
NM_172250.3(MMAA):c.1114del (p.Gln372fs)
|
rs765726949
|
|
NM_172250.3(MMAA):c.112del (p.Ile38fs)
|
|
|
NM_172250.3(MMAA):c.255del (p.Phe85fs)
|
|
|
NM_172250.3(MMAA):c.298_312del (p.Cys100_Ala104del)
|
rs780082584
|
|
NM_172250.3(MMAA):c.302T>G (p.Leu101Ter)
|
|
|
NM_172250.3(MMAA):c.405del (p.Gln135fs)
|
|
|
NM_172250.3(MMAA):c.411_414del (p.Asn137fs)
|
rs1553957931
|
|
NM_172250.3(MMAA):c.439+1G>A
|
rs1553957938
|
|
NM_172250.3(MMAA):c.439+4_439+7del
|
rs1553957939
|
|
NM_172250.3(MMAA):c.50T>A (p.Leu17Ter)
|
|
|
NM_172250.3(MMAA):c.562G>C (p.Gly188Arg)
|
rs864309729
|
|
NM_172250.3(MMAA):c.601del (p.Ser201fs)
|
|
|
NM_172250.3(MMAA):c.708dup (p.Asp237Ter)
|
|
|
NM_172250.3(MMAA):c.733+1G>T
|
|
|
NM_172250.3(MMAA):c.746_762dup (p.Asp255fs)
|
|
|
NM_172250.3(MMAA):c.820-1G>C
|
rs1553959017
|
|
NM_172250.3(MMAA):c.936dup (p.Leu313fs)
|
|
|
NM_172250.3(MMAA):c.963_969+4del
|
|
|