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_001081.4(CUBN):c.6821+2T>C
|
rs150901286
|
0.00083
|
NM_022132.5(MCCC2):c.1433C>G (p.Ala478Gly)
|
rs35068278
|
0.00082
|
NM_001243279.3(ACSF3):c.1075G>A (p.Glu359Lys)
|
rs150487794
|
0.00071
|
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_001243279.3(ACSF3):c.1A>G (p.Met1Val)
|
rs370382601
|
0.00053
|
NM_001370658.1(BTD):c.1308A>C (p.Gln436His)
|
rs80338685
|
0.00046
|
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_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_001609.4(ACADSB):c.1194C>G (p.Tyr398Ter)
|
rs142095937
|
0.00022
|
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.472T>C (p.Phe158Leu)
|
rs201312386
|
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_014384.3(ACAD8):c.1129G>A (p.Gly377Ser)
|
rs121908419
|
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_015506.3(MMACHC):c.364C>A (p.His122Asn)
|
rs372918203
|
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_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_002225.5(IVD):c.707C>T (p.Thr236Ile)
|
rs146861563
|
0.00010
|
NM_001243279.3(ACSF3):c.1081G>A (p.Gly361Ser)
|
rs145285434
|
0.00009
|
NM_001352514.2(HLCS):c.1974dup (p.Val659fs)
|
rs767533946
|
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_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_001081.4(CUBN):c.7095G>A (p.Trp2365Ter)
|
rs374538208
|
0.00007
|
NM_002225.5(IVD):c.550+1G>A
|
rs377147994
|
0.00007
|
NM_018368.4(LMBRD1):c.1338+2T>C
|
rs147270670
|
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.853del (p.Met284_Leu285insTer)
|
rs779339230
|
0.00006
|
NM_000255.4(MMUT):c.1924G>C (p.Gly642Arg)
|
rs747897332
|
0.00006
|
NM_000255.4(MMUT):c.947A>G (p.Tyr316Cys)
|
rs781474200
|
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_014384.3(ACAD8):c.400G>T (p.Asp134Tyr)
|
rs367857040
|
0.00006
|
NM_015506.3(MMACHC):c.688C>T (p.Arg230Ter)
|
rs201183360
|
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_000532.5(PCCB):c.1127G>A (p.Arg376His)
|
rs142982097
|
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.383G>A (p.Arg128His)
|
rs367902696
|
0.00005
|
NM_001370658.1(BTD):c.565C>T (p.Arg189Cys)
|
rs369102875
|
0.00005
|
NM_001609.4(ACADSB):c.1128+1G>A
|
rs1564754571
|
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_000191.3(HMGCL):c.698A>G (p.His233Arg)
|
rs727503963
|
0.00004
|
NM_000255.4(MMUT):c.280G>A (p.Gly94Arg)
|
rs727504022
|
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.1721dup (p.His574fs)
|
rs768886326
|
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_001352514.2(HLCS):c.2260dup (p.Ser754fs)
|
rs766163167
|
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_001698.3(AUH):c.656-2_656-1del
|
rs757748207
|
0.00004
|
NM_002225.5(IVD):c.1124G>A (p.Gly375Asp)
|
rs769261274
|
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_020166.5(MCCC1):c.1331G>A (p.Arg444His)
|
rs768785753
|
0.00004
|
NM_020166.5(MCCC1):c.137G>A (p.Gly46Glu)
|
rs199517715
|
0.00004
|
NM_020166.5(MCCC1):c.196C>T (p.Arg66Cys)
|
rs754460336
|
0.00004
|
NM_020166.5(MCCC1):c.1A>G (p.Met1Val)
|
rs762463914
|
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_052845.4(MMAB):c.571C>T (p.Arg191Trp)
|
rs376128990
|
0.00004
|
NM_052845.4(MMAB):c.656A>G (p.Tyr219Cys)
|
rs765547005
|
0.00004
|
NM_000019.4(ACAT1):c.1229C>T (p.Ala410Val)
|
rs767412638
|
0.00003
|
NM_000019.4(ACAT1):c.951C>T (p.Asp317=)
|
rs747714452
|
0.00003
|
NM_000191.3(HMGCL):c.3G>T (p.Met1Ile)
|
rs1302190999
|
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_000282.4(PCCA):c.802C>T (p.Arg268Cys)
|
rs774738181
|
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_001081.4(CUBN):c.6088C>T (p.Arg2030Ter)
|
rs374417889
|
0.00003
|
NM_001352514.2(HLCS):c.1960+5G>A
|
rs753887925
|
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.535G>A (p.Val179Met)
|
rs397514375
|
0.00003
|
NM_001370658.1(BTD):c.581A>G (p.Asn194Ser)
|
rs397514377
|
0.00003
|
NM_002225.5(IVD):c.1175G>A (p.Arg392His)
|
rs982218848
|
0.00003
|
NM_002225.5(IVD):c.1183C>G (p.Arg395Gly)
|
rs398123681
|
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_032861.4(SERAC1):c.1493G>C (p.Ser498Thr)
|
rs201941476
|
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.765A>T (p.Glu255Asp)
|
rs794727893
|
0.00002
|
NM_000019.4(ACAT1):c.968T>C (p.Ile323Thr)
|
rs755806238
|
0.00002
|
NM_000191.3(HMGCL):c.493C>T (p.Arg165Trp)
|
rs764039230
|
0.00002
|
NM_000255.4(MMUT):c.1084-10A>G
|
rs777031588
|
0.00002
|
NM_000255.4(MMUT):c.1880A>G (p.His627Arg)
|
rs372486357
|
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.232-1G>A
|
rs794727620
|
0.00002
|
NM_000282.4(PCCA):c.689G>A (p.Arg230His)
|
rs747943045
|
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.10612G>T (p.Glu3538Ter)
|
rs756614749
|
0.00002
|
NM_001081.4(CUBN):c.8755C>T (p.Arg2919Ter)
|
rs370038232
|
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.1529T>A (p.Val510Asp)
|
rs769499327
|
0.00002
|
NM_001352514.2(HLCS):c.1808A>G (p.Tyr603Cys)
|
rs781603756
|
0.00002
|
NM_001352514.2(HLCS):c.1985G>A (p.Ser662Asn)
|
rs773398782
|
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_002225.5(IVD):c.-8T>C
|
rs566691073
|
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_014362.4(HIBCH):c.353T>C (p.Phe118Ser)
|
rs758938066
|
0.00002
|
NM_014384.3(ACAD8):c.289G>A (p.Gly97Arg)
|
rs371033488
|
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_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.295G>A (p.Gly99Ser)
|
rs375244642
|
0.00002
|
NM_020166.5(MCCC1):c.639+5G>T
|
rs768630906
|
0.00002
|
NM_020166.5(MCCC1):c.758C>T (p.Pro253Leu)
|
rs202083272
|
0.00002
|
NM_020166.5(MCCC1):c.841C>T (p.Arg281Ter)
|
rs185741664
|
0.00002
|
NM_022132.5(MCCC2):c.129+3A>G
|
rs1352606118
|
0.00002
|
NM_022132.5(MCCC2):c.1549G>A (p.Gly517Arg)
|
rs979584886
|
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.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.1167G>A (p.Met389Ile)
|
rs377295639
|
0.00001
|
NM_000019.4(ACAT1):c.1199A>G (p.His400Arg)
|
rs761086326
|
0.00001
|
NM_000019.4(ACAT1):c.120+1G>C
|
rs779908220
|
0.00001
|
NM_000019.4(ACAT1):c.253G>T (p.Glu85Ter)
|
rs748425041
|
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.826+1G>T
|
rs727503796
|
0.00001
|
NM_000019.4(ACAT1):c.826+5_826+9del
|
rs1410743762
|
0.00001
|
NM_000019.4(ACAT1):c.901G>C (p.Ala301Pro)
|
rs1420321267
|
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.121C>T (p.Arg41Ter)
|
rs770225915
|
0.00001
|
NM_000191.3(HMGCL):c.144+1G>A
|
rs1638698732
|
0.00001
|
NM_000191.3(HMGCL):c.497+4A>G
|
rs568718845
|
0.00001
|
NM_000191.3(HMGCL):c.501C>G (p.Tyr167Ter)
|
rs200189529
|
0.00001
|
NM_000191.3(HMGCL):c.863T>A (p.Leu288Ter)
|
rs1425615804
|
0.00001
|
NM_000255.4(MMUT):c.1084-2A>G
|
rs879253839
|
0.00001
|
NM_000255.4(MMUT):c.1846C>T (p.Arg616Cys)
|
rs765284825
|
0.00001
|
NM_000255.4(MMUT):c.2099T>A (p.Met700Lys)
|
rs140600746
|
0.00001
|
NM_000255.4(MMUT):c.257C>T (p.Pro86Leu)
|
rs769348060
|
0.00001
|
NM_000255.4(MMUT):c.313T>C (p.Trp105Arg)
|
rs121918249
|
0.00001
|
NM_000255.4(MMUT):c.545T>G (p.Met182Arg)
|
rs763208217
|
0.00001
|
NM_000255.4(MMUT):c.556A>G (p.Met186Val)
|
rs148331800
|
0.00001
|
NM_000255.4(MMUT):c.571G>A (p.Ala191Thr)
|
rs1313120333
|
0.00001
|
NM_000255.4(MMUT):c.581C>T (p.Pro194Leu)
|
rs1254433398
|
0.00001
|
NM_000255.4(MMUT):c.654A>C (p.Gln218His)
|
rs1446389693
|
0.00001
|
NM_000255.4(MMUT):c.7A>T (p.Arg3Ter)
|
rs750583669
|
0.00001
|
NM_000255.4(MMUT):c.914T>C (p.Leu305Ser)
|
rs1554160246
|
0.00001
|
NM_000255.4(MMUT):c.982C>T (p.Leu328Phe)
|
rs796052002
|
0.00001
|
NM_000255.4(MMUT):c.987G>A (p.Trp329Ter)
|
rs750475071
|
0.00001
|
NM_000282.4(PCCA):c.1118T>A (p.Met373Lys)
|
rs121964958
|
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.1540+1G>C
|
rs199604072
|
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.1788G>A (p.Trp596Ter)
|
rs776496862
|
0.00001
|
NM_000282.4(PCCA):c.183+1G>A
|
rs757540625
|
0.00001
|
NM_000282.4(PCCA):c.1855C>T (p.Arg619Ter)
|
rs1194679272
|
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.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.2dup (p.Met1fs)
|
rs1179536678
|
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.893A>G (p.Lys298Arg)
|
rs1444049793
|
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.1535G>A (p.Arg512His)
|
rs764697873
|
0.00001
|
NM_000532.5(PCCB):c.1556T>C (p.Leu519Pro)
|
rs202247822
|
0.00001
|
NM_000532.5(PCCB):c.177C>G (p.His59Gln)
|
rs757134877
|
0.00001
|
NM_000532.5(PCCB):c.331C>T (p.Arg111Ter)
|
rs753981900
|
0.00001
|
NM_000532.5(PCCB):c.371del (p.Gln124fs)
|
rs1481849460
|
0.00001
|
NM_000532.5(PCCB):c.410A>G (p.His137Arg)
|
rs1391142709
|
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.544-2A>G
|
rs752377212
|
0.00001
|
NM_000532.5(PCCB):c.563G>C (p.Gly188Ala)
|
rs796052024
|
0.00001
|
NM_000532.5(PCCB):c.733G>A (p.Gly245Ser)
|
rs756414710
|
0.00001
|
NM_000532.5(PCCB):c.734G>A (p.Gly245Asp)
|
rs778242891
|
0.00001
|
NM_000532.5(PCCB):c.814C>T (p.Arg272Trp)
|
rs375999824
|
0.00001
|
NM_000532.5(PCCB):c.942C>A (p.Tyr314Ter)
|
rs572246667
|
0.00001
|
NM_001081.4(CUBN):c.1506G>A (p.Trp502Ter)
|
rs145818316
|
0.00001
|
NM_001081.4(CUBN):c.3096del (p.Ala1031_Tyr1032insTer)
|
rs386833781
|
0.00001
|
NM_001081.4(CUBN):c.703C>T (p.Arg235Ter)
|
rs1461982823
|
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.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_001352514.2(HLCS):c.1088T>G (p.Leu363Arg)
|
rs28934602
|
0.00001
|
NM_001352514.2(HLCS):c.1621-2A>G
|
rs750728042
|
0.00001
|
NM_001352514.2(HLCS):c.1850T>C (p.Leu617Ser)
|
rs1261821166
|
0.00001
|
NM_001352514.2(HLCS):c.2527C>T (p.Gln843Ter)
|
rs1466111134
|
0.00001
|
NM_001352514.2(HLCS):c.2567C>T (p.Pro856Leu)
|
rs1260631800
|
0.00001
|
NM_001352514.2(HLCS):c.2585A>C (p.Asp862Ala)
|
rs752737867
|
0.00001
|
NM_001352514.2(HLCS):c.712_713del (p.Arg238fs)
|
rs1284747916
|
0.00001
|
NM_001370658.1(BTD):c.-17+2T>C
|
rs745648160
|
0.00001
|
NM_001370658.1(BTD):c.1154T>C (p.Leu385Pro)
|
rs397514406
|
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.1246G>A (p.Glu416Lys)
|
rs749460715
|
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.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.249+1G>T
|
rs373249212
|
0.00001
|
NM_001370658.1(BTD):c.250-15del
|
rs587783008
|
0.00001
|
NM_001370658.1(BTD):c.265G>C (p.Val89Leu)
|
rs372416959
|
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.385T>C (p.Phe129Leu)
|
rs397514359
|
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.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.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.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_001609.4(ACADSB):c.923G>A (p.Cys308Tyr)
|
rs770456976
|
0.00001
|
NM_001698.3(AUH):c.656-2del
|
rs780964098
|
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.1199A>G (p.Tyr400Cys)
|
rs773560012
|
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.286+2T>C
|
rs748026507
|
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.556G>A (p.Gly186Arg)
|
rs1410990711
|
0.00001
|
NM_014362.4(HIBCH):c.365A>G (p.Tyr122Cys)
|
rs121918329
|
0.00001
|
NM_014362.4(HIBCH):c.891+1G>A
|
rs915412371
|
0.00001
|
NM_014384.3(ACAD8):c.2T>C (p.Met1Thr)
|
rs767041100
|
0.00001
|
NM_014384.3(ACAD8):c.845C>T (p.Ser282Phe)
|
rs770663870
|
0.00001
|
NM_014384.3(ACAD8):c.988C>T (p.Arg330Trp)
|
rs121908420
|
0.00001
|
NM_014384.3(ACAD8):c.989G>A (p.Arg330Gln)
|
rs752153225
|
0.00001
|
NM_015506.3(MMACHC):c.349G>C (p.Ala117Pro)
|
rs752205161
|
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.434dup (p.Ser146fs)
|
rs768978351
|
0.00001
|
NM_015506.3(MMACHC):c.439G>A (p.Gly147Ser)
|
rs1553162901
|
0.00001
|
NM_015506.3(MMACHC):c.616C>T (p.Arg206Trp)
|
rs538023671
|
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.372+1G>A
|
rs755561981
|
0.00001
|
NM_015702.3(MMADHC):c.746A>G (p.Tyr249Cys)
|
rs118204046
|
0.00001
|
NM_018368.4(LMBRD1):c.562+1G>A
|
rs372279393
|
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.1330C>T (p.Arg444Cys)
|
rs375996272
|
0.00001
|
NM_020166.5(MCCC1):c.1483C>T (p.Gln495Ter)
|
rs1713700813
|
0.00001
|
NM_020166.5(MCCC1):c.1681+2T>C
|
rs1333994006
|
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.863A>G (p.Glu288Gly)
|
rs746500530
|
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.1300G>C (p.Val434Leu)
|
rs758506791
|
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.1430A>G (p.Gln477Arg)
|
rs769558016
|
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.464G>A (p.Arg155Gln)
|
rs119103220
|
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_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_032861.4(SERAC1):c.262_265dup (p.Gly89fs)
|
rs797045105
|
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.1084C>T (p.Gln362Ter)
|
rs1560802980
|
0.00001
|
NM_172250.3(MMAA):c.304G>A (p.Ala102Thr)
|
rs1328584680
|
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.733+1G>A
|
rs779939886
|
0.00001
|
NC_000001.10:g.(24144074_24146999)_(24147084_24151845)del
|
|
|
NC_000001.10:g.(?_24137216)_(24140838_?)del
|
|
|
NC_000003.11:g.(?_135980784)_(135980917_?)del
|
|
|
NC_000003.11:g.(?_136002659)_(136002809_?)del
|
|
|
NC_000003.12:g.(?_183092399)_(183094615_?)dup
|
|
|
NC_000005.10:g.(?_71599649)_(71599770_?)del
|
|
|
NC_000005.9:g.(?_70895466)_(70895607_?)del
|
|
|
NC_000009.11:g.(?_94118145)_(94118457_?)del
|
|
|
NC_000010.11:g.(?_123034356)_(123041379_?)del
|
|
|
NC_000011.9:g.(?_108004537)_(108005053_?)dup
|
|
|
NC_000011.9:g.(?_108009615)_(108009778_?)del
|
|
|
NC_000011.9:g.(?_72083996)_(72087051_?)del
|
|
|
NC_000012.12:g.(?_109561020)_(109565196_?)del
|
|
|
NC_000013.10:g.(100764316_100807232)_(100861718_100888095)del
|
|
|
NC_000013.10:g.(100982926_100992410)_(100992514_101020725)del
|
|
|
NC_000013.10:g.(?_100953694)_(100962182_?)dup
|
|
|
NC_000013.10:g.(?_100953704)_(100962172_?)dup
|
|
|
NC_000013.10:g.(?_100982805)_(101020838_?)dup
|
|
|
NC_000013.11:g.(?_100154969)_(100273356_?)del
|
|
|
NC_000013.11:g.(?_100301460)_(100425731_?)del
|
|
|
NC_000013.11:g.(?_100425613)_(100425751_?)del
|
|
|
NC_000013.11:g.(?_100449242)_(100491683_?)del
|
|
|
NC_000014.8:g.(74764773_74766250)_(74769768_?)del
|
|
|
NC_000015.10:g.(?_40412971)_(40418283_?)del
|
|
|
NC_000015.10:g.(?_40413063)_(40414126_?)del
|
|
|
NC_000015.10:g.(?_40416058)_(40418283_?)del
|
|
|
NC_000015.9:g.(?_40702817)_(40708571_?)del
|
|
|
NC_000016.10:g.89100703_89111915del
|
|
|
NC_000016.9:g.(?_89167109)_(89178321_?)del
|
|
|
NC_000016.9:g.(?_89178490)_(89199680_?)dup
|
|
|
NC_000016.9:g.(?_89178490)_(89212467_?)dup
|
|
|
NC_000019.9:g.(46057170_46087880)_(46088123_?)del
|
|
|
NC_000021.8:g.(?_38126547)_(38139606_?)del
|
|
|
NC_000023.10:g.(?_153640181)_(153641904_?)del
|
|
|
NM_000019.4(ACAT1):c.1005+1G>A
|
rs2134780623
|
|
NM_000019.4(ACAT1):c.1005+2T>G
|
|
|
NM_000019.4(ACAT1):c.1016_1018dup (p.Asp339dup)
|
rs1591374552
|
|
NM_000019.4(ACAT1):c.1032AGA[1] (p.Glu345del)
|
rs387906282
|
|
NM_000019.4(ACAT1):c.1040T>C (p.Ile347Thr)
|
rs1338023969
|
|
NM_000019.4(ACAT1):c.1043del (p.Ala348fs)
|
rs1565297769
|
|
NM_000019.4(ACAT1):c.1049G>A (p.Trp350Ter)
|
rs1367121673
|
|
NM_000019.4(ACAT1):c.1059T>A (p.Asn353Lys)
|
rs1591374629
|
|
NM_000019.4(ACAT1):c.1059T>G (p.Asn353Lys)
|
rs1591374629
|
|
NM_000019.4(ACAT1):c.1061A>T (p.Glu354Val)
|
rs1591374632
|
|
NM_000019.4(ACAT1):c.1097dup (p.Met366fs)
|
|
|
NM_000019.4(ACAT1):c.1114C>T (p.Gln372Ter)
|
rs2134791667
|
|
NM_000019.4(ACAT1):c.1138G>A (p.Ala380Thr)
|
rs120074140
|
|
NM_000019.4(ACAT1):c.1159A>G (p.Ile387Val)
|
|
|
NM_000019.4(ACAT1):c.1167G>T (p.Met389Ile)
|
rs377295639
|
|
NM_000019.4(ACAT1):c.1168T>C (p.Ser390Pro)
|
rs1184088336
|
|
NM_000019.4(ACAT1):c.1189C>G (p.His397Asp)
|
rs746332363
|
|
NM_000019.4(ACAT1):c.1190A>G (p.His397Arg)
|
rs2134797745
|
|
NM_000019.4(ACAT1):c.120+1G>A
|
|
|
NM_000019.4(ACAT1):c.120+1G>T
|
rs779908220
|
|
NM_000019.4(ACAT1):c.121-2A>G
|
rs2135334384
|
|
NM_000019.4(ACAT1):c.1241_1245delinsGT (p.Asn414_Gly415delinsSer)
|
rs1591375882
|
|
NM_000019.4(ACAT1):c.1253G>A (p.Gly418Asp)
|
rs886042080
|
|
NM_000019.4(ACAT1):c.131T>C (p.Ile44Thr)
|
rs2135334430
|
|
NM_000019.4(ACAT1):c.134dup (p.Ser46fs)
|
rs1444451434
|
|
NM_000019.4(ACAT1):c.163_167delinsAA (p.Phe55_Leu56delinsLys)
|
rs1591361995
|
|
NM_000019.4(ACAT1):c.184_186delinsA (p.Leu62fs)
|
|
|
NM_000019.4(ACAT1):c.218A>C (p.Gln73Pro)
|
rs779758622
|
|
NM_000019.4(ACAT1):c.238+2T>A
|
rs2135334862
|
|
NM_000019.4(ACAT1):c.238+2T>C
|
|
|
NM_000019.4(ACAT1):c.240_241insT (p.Ile81fs)
|
|
|
NM_000019.4(ACAT1):c.248AAG[2] (p.Glu85del)
|
rs866364527
|
|
NM_000019.4(ACAT1):c.261dup (p.Glu88fs)
|
rs1201662412
|
|
NM_000019.4(ACAT1):c.263A>C (p.Glu88Ala)
|
rs1565288701
|
|
NM_000019.4(ACAT1):c.278A>G (p.Asn93Ser)
|
rs120074145
|
|
NM_000019.4(ACAT1):c.334+2T>A
|
|
|
NM_000019.4(ACAT1):c.335-2A>G
|
|
|
NM_000019.4(ACAT1):c.370A>G (p.Lys124Glu)
|
rs1591363715
|
|
NM_000019.4(ACAT1):c.371A>G (p.Lys124Arg)
|
rs1037467160
|
|
NM_000019.4(ACAT1):c.395C>G (p.Ala132Gly)
|
rs1591363786
|
|
NM_000019.4(ACAT1):c.410_418delinsT (p.Ser137fs)
|
rs1591363795
|
|
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.556G>T (p.Asp186Tyr)
|
rs1591367592
|
|
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.579+2T>A
|
rs112950994
|
|
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.643_644delinsAA (p.Ala215Asn)
|
rs1591368794
|
|
NM_000019.4(ACAT1):c.649_652del (p.Asn217fs)
|
|
|
NM_000019.4(ACAT1):c.64_72+10del
|
rs1318268067
|
|
NM_000019.4(ACAT1):c.653C>T (p.Ser218Phe)
|
rs879255505
|
|
NM_000019.4(ACAT1):c.655T>C (p.Tyr219His)
|
rs1437567292
|
|
NM_000019.4(ACAT1):c.674C>A (p.Ala225Glu)
|
rs1385465985
|
|
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.73-1G>A
|
|
|
NM_000019.4(ACAT1):c.730+2T>C
|
rs398123096
|
|
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.759T>A (p.Asp253Glu)
|
rs983216159
|
|
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.826+2T>G
|
rs2077590197
|
|
NM_000019.4(ACAT1):c.826+5G>T
|
rs1591370366
|
|
NM_000019.4(ACAT1):c.844A>C (p.Asn282His)
|
rs750195919
|
|
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.940+2T>C
|
rs963023006
|
|
NM_000019.4(ACAT1):c.940+2dup
|
rs2134773243
|
|
NM_000116.5(TAFAZZIN):c.109+5G>A
|
rs2148185111
|
|
NM_000116.5(TAFAZZIN):c.109+5G>C
|
rs2148185111
|
|
NM_000116.5(TAFAZZIN):c.124del (p.His41_Leu42insTer)
|
|
|
NM_000116.5(TAFAZZIN):c.153C>G (p.Tyr51Ter)
|
rs104894941
|
|
NM_000116.5(TAFAZZIN):c.163G>T (p.Glu55Ter)
|
|
|
NM_000116.5(TAFAZZIN):c.171del (p.Gly58fs)
|
|
|
NM_000116.5(TAFAZZIN):c.208C>T (p.Gln70Ter)
|
rs397515738
|
|
NM_000116.5(TAFAZZIN):c.215G>T (p.Cys72Phe)
|
|
|
NM_000116.5(TAFAZZIN):c.222C>A (p.Asp74Glu)
|
|
|
NM_000116.5(TAFAZZIN):c.227C>G (p.Pro76Arg)
|
rs878853654
|
|
NM_000116.5(TAFAZZIN):c.236_238+5del
|
rs2068331233
|
|
NM_000116.5(TAFAZZIN):c.238+2T>G
|
|
|
NM_000116.5(TAFAZZIN):c.238+2_238+9del
|
rs1603376938
|
|
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.280C>G (p.Arg94Gly)
|
|
|
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+5G>A
|
|
|
NM_000116.5(TAFAZZIN):c.285G>A (p.Trp95Ter)
|
|
|
NM_000116.5(TAFAZZIN):c.294delinsTTAAGGACCCCT (p.Ala98_Ala99insTer)
|
|
|
NM_000116.5(TAFAZZIN):c.307T>C (p.Cys103Arg)
|
rs397515740
|
|
NM_000116.5(TAFAZZIN):c.328T>C (p.Ser110Pro)
|
rs397515739
|
|
NM_000116.5(TAFAZZIN):c.329_334del (p.Ser110_His111del)
|
|
|
NM_000116.5(TAFAZZIN):c.347G>A (p.Gly116Asp)
|
rs727504327
|
|
NM_000116.5(TAFAZZIN):c.370G>A (p.Gly124Arg)
|
|
|
NM_000116.5(TAFAZZIN):c.370G>C (p.Gly124Arg)
|
|
|
NM_000116.5(TAFAZZIN):c.51G>A (p.Trp17Ter)
|
|
|
NM_000116.5(TAFAZZIN):c.528_541+7del
|
rs2068570435
|
|
NM_000116.5(TAFAZZIN):c.541+1G>T
|
|
|
NM_000116.5(TAFAZZIN):c.542-2A>G
|
rs2068574381
|
|
NM_000116.5(TAFAZZIN):c.542-3C>G
|
rs781795144
|
|
NM_000116.5(TAFAZZIN):c.54_55del (p.Leu19fs)
|
|
|
NM_000116.5(TAFAZZIN):c.580_583+10del
|
|
|
NM_000116.5(TAFAZZIN):c.584-1G>A
|
|
|
NM_000116.5(TAFAZZIN):c.590G>A (p.Gly197Glu)
|
rs397515746
|
|
NM_000116.5(TAFAZZIN):c.609T>A (p.Cys203Ter)
|
|
|
NM_000116.5(TAFAZZIN):c.646G>A (p.Gly216Arg)
|
rs1085307797
|
|
NM_000116.5(TAFAZZIN):c.647G>T (p.Gly216Val)
|
rs727504431
|
|
NM_000116.5(TAFAZZIN):c.688del (p.Arg230fs)
|
rs1569552936
|
|
NM_000116.5(TAFAZZIN):c.699+1G>T
|
|
|
NM_000116.5(TAFAZZIN):c.700-1del
|
|
|
NM_000116.5(TAFAZZIN):c.718G>A (p.Gly240Arg)
|
rs387907218
|
|
NM_000116.5(TAFAZZIN):c.747_748insCGGGCGCCGGCGGCTCTCC (p.Glu250fs)
|
|
|
NM_000116.5(TAFAZZIN):c.748G>T (p.Glu250Ter)
|
|
|
NM_000116.5(TAFAZZIN):c.773C>A (p.Ser258Ter)
|
rs2068606445
|
|
NM_000116.5(TAFAZZIN):c.777+1G>A
|
rs2068606932
|
|
NM_000116.5(TAFAZZIN):c.778-2A>G
|
rs876661112
|
|
NM_000116.5(TAFAZZIN):c.790A>G (p.Lys264Glu)
|
rs1557194488
|
|
NM_000116.5(TAFAZZIN):c.823C>T (p.Gln275Ter)
|
rs397515750
|
|
NM_000116.5(TAFAZZIN):c.836del (p.Thr279fs)
|
rs1557194525
|
|
NM_000191.3(HMGCL):c.109G>A (p.Glu37Lys)
|
|
|
NM_000191.3(HMGCL):c.121dup (p.Arg41fs)
|
rs1553133042
|
|
NM_000191.3(HMGCL):c.124G>A (p.Asp42Asn)
|
|
|
NM_000191.3(HMGCL):c.125A>G (p.Asp42Gly)
|
|
|
NM_000191.3(HMGCL):c.144+2T>C
|
rs1001955490
|
|
NM_000191.3(HMGCL):c.145-1G>C
|
|
|
NM_000191.3(HMGCL):c.206_207del (p.Ser69fs)
|
rs752137615
|
|
NM_000191.3(HMGCL):c.225C>G (p.Ser75Arg)
|
|
|
NM_000191.3(HMGCL):c.230del (p.Val77fs)
|
rs1638632303
|
|
NM_000191.3(HMGCL):c.252+1G>A
|
rs775218067
|
|
NM_000191.3(HMGCL):c.252+1G>C
|
|
|
NM_000191.3(HMGCL):c.275T>A (p.Leu92Ter)
|
rs1638620864
|
|
NM_000191.3(HMGCL):c.276_278delinsT (p.Leu92fs)
|
|
|
NM_000191.3(HMGCL):c.286C>T (p.Gln96Ter)
|
rs890995574
|
|
NM_000191.3(HMGCL):c.286del (p.Gln96fs)
|
rs1184002840
|
|
NM_000191.3(HMGCL):c.308del (p.Tyr103fs)
|
|
|
NM_000191.3(HMGCL):c.331A>T (p.Lys111Ter)
|
rs1638619737
|
|
NM_000191.3(HMGCL):c.348+1G>A
|
rs1322650779
|
|
NM_000191.3(HMGCL):c.348+1G>C
|
|
|
NM_000191.3(HMGCL):c.349_361del
|
|
|
NM_000191.3(HMGCL):c.413del (p.Asn138fs)
|
rs1553132520
|
|
NM_000191.3(HMGCL):c.48_60+289del
|
|
|
NM_000191.3(HMGCL):c.497+1G>A
|
|
|
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.528T>G (p.Tyr176Ter)
|
rs112508527
|
|
NM_000191.3(HMGCL):c.561+1G>T
|
|
|
NM_000191.3(HMGCL):c.562-1G>A
|
|
|
NM_000191.3(HMGCL):c.562-2A>G
|
rs1553131955
|
|
NM_000191.3(HMGCL):c.594C>G (p.Tyr198Ter)
|
rs139799938
|
|
NM_000191.3(HMGCL):c.60+1G>C
|
|
|
NM_000191.3(HMGCL):c.60+1G>T
|
rs1324641233
|
|
NM_000191.3(HMGCL):c.61-1G>C
|
rs1638701269
|
|
NM_000191.3(HMGCL):c.610del (p.Asp204fs)
|
rs2148419170
|
|
NM_000191.3(HMGCL):c.704_705dup (p.Asp236fs)
|
|
|
NM_000191.3(HMGCL):c.714T>G (p.Tyr238Ter)
|
rs1638446662
|
|
NM_000191.3(HMGCL):c.718C>T (p.Gln240Ter)
|
rs1638446514
|
|
NM_000191.3(HMGCL):c.71C>G (p.Ser24Ter)
|
|
|
NM_000191.3(HMGCL):c.750+2T>C
|
|
|
NM_000191.3(HMGCL):c.804C>A (p.Tyr268Ter)
|
rs765198174
|
|
NM_000191.3(HMGCL):c.825C>G (p.Asn275Lys)
|
rs1287973337
|
|
NM_000191.3(HMGCL):c.866del (p.Gly289fs)
|
|
|
NM_000255.4(MMUT):c.-39-2A>G
|
rs1767786464
|
|
NM_000255.4(MMUT):c.1007del (p.Met336fs)
|
rs1064796328
|
|
NM_000255.4(MMUT):c.1032TCT[2] (p.Leu347del)
|
rs765373403
|
|
NM_000255.4(MMUT):c.1083+1G>A
|
rs1554160198
|
|
NM_000255.4(MMUT):c.1092C>A (p.Tyr364Ter)
|
|
|
NM_000255.4(MMUT):c.1092_1114del (p.Asn365fs)
|
rs1476515561
|
|
NM_000255.4(MMUT):c.1102del (p.Val368fs)
|
rs1767558588
|
|
NM_000255.4(MMUT):c.1107dup (p.Thr370fs)
|
rs1767558268
|
|
NM_000255.4(MMUT):c.1126_1127del (p.Ala376fs)
|
rs1554159950
|
|
NM_000255.4(MMUT):c.1142G>T (p.Gly381Val)
|
rs1554159942
|
|
NM_000255.4(MMUT):c.1148dup (p.Ser384fs)
|
rs771021560
|
|
NM_000255.4(MMUT):c.1159A>C (p.Thr387Pro)
|
rs1767556193
|
|
NM_000255.4(MMUT):c.1160C>A (p.Thr387Lys)
|
|
|
NM_000255.4(MMUT):c.1162A>C (p.Asn388His)
|
|
|
NM_000255.4(MMUT):c.1171_1172delinsT (p.Asp391fs)
|
|
|
NM_000255.4(MMUT):c.1198A>T (p.Lys400Ter)
|
rs1767555126
|
|
NM_000255.4(MMUT):c.1207C>G (p.Arg403Gly)
|
rs727504020
|
|
NM_000255.4(MMUT):c.1230CAT[1] (p.Ile412del)
|
rs1767553642
|
|
NM_000255.4(MMUT):c.1287C>A (p.Tyr429Ter)
|
rs1346775255
|
|
NM_000255.4(MMUT):c.1330A>T (p.Lys444Ter)
|
rs1767549304
|
|
NM_000255.4(MMUT):c.1348G>T (p.Glu450Ter)
|
rs1767479902
|
|
NM_000255.4(MMUT):c.1351G>T (p.Glu451Ter)
|
rs768608311
|
|
NM_000255.4(MMUT):c.1369A>T (p.Lys457Ter)
|
rs1767478925
|
|
NM_000255.4(MMUT):c.1445-2A>G
|
rs398123276
|
|
NM_000255.4(MMUT):c.1469del (p.Asn490fs)
|
|
|
NM_000255.4(MMUT):c.1489G>T (p.Glu497Ter)
|
rs879253844
|
|
NM_000255.4(MMUT):c.1525_1526del (p.Val510fs)
|
|
|
NM_000255.4(MMUT):c.1560+2T>C
|
rs1767442652
|
|
NM_000255.4(MMUT):c.1564A>T (p.Lys522Ter)
|
rs748358807
|
|
NM_000255.4(MMUT):c.1581dup (p.Ala528fs)
|
rs1767368923
|
|
NM_000255.4(MMUT):c.1590_1591del (p.Glu531fs)
|
|
|
NM_000255.4(MMUT):c.1645del (p.Leu549fs)
|
rs1767365298
|
|
NM_000255.4(MMUT):c.1663G>A (p.Ala555Thr)
|
rs753564352
|
|
NM_000255.4(MMUT):c.1673C>T (p.Ala558Val)
|
rs1289671563
|
|
NM_000255.4(MMUT):c.1677-1G>C
|
rs754369323
|
|
NM_000255.4(MMUT):c.1678T>C (p.Cys560Arg)
|
rs1767289269
|
|
NM_000255.4(MMUT):c.1718T>C (p.Phe573Ser)
|
rs775593146
|
|
NM_000255.4(MMUT):c.1722_1723del (p.Glu575fs)
|
|
|
NM_000255.4(MMUT):c.1761T>A (p.Tyr587Ter)
|
rs1767285621
|
|
NM_000255.4(MMUT):c.1777G>T (p.Glu593Ter)
|
rs148285323
|
|
NM_000255.4(MMUT):c.1787del (p.Glu596fs)
|
rs1767284074
|
|
NM_000255.4(MMUT):c.1802del (p.Ile601fs)
|
|
|
NM_000255.4(MMUT):c.1867G>C (p.Gly623Arg)
|
rs121918254
|
|
NM_000255.4(MMUT):c.1870C>T (p.Gln624Ter)
|
rs1767240499
|
|
NM_000255.4(MMUT):c.1946del (p.Pro649fs)
|
rs1554158754
|
|
NM_000255.4(MMUT):c.1956+2T>C
|
rs750619189
|
|
NM_000255.4(MMUT):c.1990del (p.Ala664fs)
|
rs1554158372
|
|
NM_000255.4(MMUT):c.1996G>A (p.Val666Met)
|
rs776430285
|
|
NM_000255.4(MMUT):c.2106del (p.Gly703_Val704insTer)
|
rs1554158325
|
|
NM_000255.4(MMUT):c.2114T>G (p.Ile705Arg)
|
rs772888575
|
|
NM_000255.4(MMUT):c.2131G>T (p.Glu711Ter)
|
rs776176938
|
|
NM_000255.4(MMUT):c.2194_2197delinsTGGAA (p.Ala732fs)
|
rs879253851
|
|
NM_000255.4(MMUT):c.277C>A (p.Arg93Ser)
|
rs746274670
|
|
NM_000255.4(MMUT):c.29del (p.Leu10fs)
|
rs1437477079
|
|
NM_000255.4(MMUT):c.312del (p.Trp105fs)
|
rs1064793768
|
|
NM_000255.4(MMUT):c.385+2T>C
|
rs1192889987
|
|
NM_000255.4(MMUT):c.385+5G>A
|
rs1460509686
|
|
NM_000255.4(MMUT):c.386-1G>A
|
rs2127420084
|
|
NM_000255.4(MMUT):c.397G>T (p.Gly133Ter)
|
rs879253828
|
|
NM_000255.4(MMUT):c.401T>A (p.Leu134Ter)
|
rs1767739242
|
|
NM_000255.4(MMUT):c.422C>A (p.Ala141Glu)
|
rs565348836
|
|
NM_000255.4(MMUT):c.438del (p.Gly145_Tyr146insTer)
|
|
|
NM_000255.4(MMUT):c.446dup (p.Asp149fs)
|
rs1767737608
|
|
NM_000255.4(MMUT):c.511A>T (p.Lys171Ter)
|
|
|
NM_000255.4(MMUT):c.566A>T (p.Asn189Ile)
|
rs200908035
|
|
NM_000255.4(MMUT):c.643G>T (p.Gly215Cys)
|
rs121918258
|
|
NM_000255.4(MMUT):c.652C>G (p.Gln218Glu)
|
rs764347583
|
|
NM_000255.4(MMUT):c.670G>T (p.Glu224Ter)
|
rs1554160638
|
|
NM_000255.4(MMUT):c.706G>T (p.Glu236Ter)
|
rs1767726007
|
|
NM_000255.4(MMUT):c.751A>T (p.Lys251Ter)
|
rs1319034847
|
|
NM_000255.4(MMUT):c.753+3A>G
|
|
|
NM_000255.4(MMUT):c.754-2A>G
|
rs1405705785
|
|
NM_000255.4(MMUT):c.763A>T (p.Lys255Ter)
|
|
|
NM_000255.4(MMUT):c.785G>T (p.Ser262Ile)
|
rs1767683356
|
|
NM_000255.4(MMUT):c.787G>T (p.Gly263Ter)
|
rs1767683238
|
|
NM_000255.4(MMUT):c.806C>T (p.Ala269Val)
|
rs767593892
|
|
NM_000255.4(MMUT):c.839dup (p.Leu281fs)
|
rs2127419415
|
|
NM_000255.4(MMUT):c.842T>A (p.Leu281Ter)
|
rs796052007
|
|
NM_000255.4(MMUT):c.893T>A (p.Ile298Asn)
|
rs1767678885
|
|
NM_000255.4(MMUT):c.934G>T (p.Gly312Ter)
|
rs1767617149
|
|
NM_000255.4(MMUT):c.959C>T (p.Ala320Val)
|
rs1581832011
|
|
NM_000255.4(MMUT):c.970G>A (p.Ala324Thr)
|
rs780387525
|
|
NM_000255.4(MMUT):c.975del (p.Arg326fs)
|
|
|
NM_000255.4(MMUT):c.995T>G (p.Leu332Ter)
|
rs1767615100
|
|
NM_000282.4(PCCA):c.101_102del (p.Leu34fs)
|
|
|
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.1065+1G>C
|
rs2063433750
|
|
NM_000282.4(PCCA):c.1066G>C (p.Val356Leu)
|
rs1595202534
|
|
NM_000282.4(PCCA):c.1075_1077del (p.Pro359del)
|
rs1595202607
|
|
NM_000282.4(PCCA):c.1086_1087delinsTGTGTATAA (p.Glu362fs)
|
|
|
NM_000282.4(PCCA):c.1086del (p.Glu362fs)
|
|
|
NM_000282.4(PCCA):c.1086delinsCT (p.Glu362fs)
|
|
|
NM_000282.4(PCCA):c.1095del (p.Gly366fs)
|
|
|
NM_000282.4(PCCA):c.1117A>G (p.Met373Val)
|
|
|
NM_000282.4(PCCA):c.118_122del (p.Tyr40fs)
|
|
|
NM_000282.4(PCCA):c.1196G>T (p.Arg399Leu)
|
rs1301904623
|
|
NM_000282.4(PCCA):c.1209+2T>G
|
|
|
NM_000282.4(PCCA):c.1209+3A>G
|
rs1467680142
|
|
NM_000282.4(PCCA):c.1210-1G>A
|
|
|
NM_000282.4(PCCA):c.1267C>T (p.Pro423Ser)
|
|
|
NM_000282.4(PCCA):c.1268dup (p.Leu424fs)
|
|
|
NM_000282.4(PCCA):c.1285-2A>G
|
|
|
NM_000282.4(PCCA):c.1315del (p.Ser439fs)
|
|
|
NM_000282.4(PCCA):c.1330dup (p.Tyr444fs)
|
rs1595236063
|
|
NM_000282.4(PCCA):c.1349C>G (p.Ser450Ter)
|
|
|
NM_000282.4(PCCA):c.1353+5_1353+9del
|
rs764045674
|
|
NM_000282.4(PCCA):c.1408C>G (p.Leu470Val)
|
|
|
NM_000282.4(PCCA):c.1430-1G>A
|
rs2152733805
|
|
NM_000282.4(PCCA):c.1430-2A>T
|
|
|
NM_000282.4(PCCA):c.1540+2T>A
|
rs1555422449
|
|
NM_000282.4(PCCA):c.1541-1G>C
|
|
|
NM_000282.4(PCCA):c.1643+1_1643+2dup
|
rs1555425626
|
|
NM_000282.4(PCCA):c.1682T>G (p.Leu561Arg)
|
rs2152811823
|
|
NM_000282.4(PCCA):c.1716dup (p.Val573fs)
|
rs2152811869
|
|
NM_000282.4(PCCA):c.1747-1G>C
|
rs879253803
|
|
NM_000282.4(PCCA):c.1750del (p.Glu584fs)
|
|
|
NM_000282.4(PCCA):c.1756_1757del (p.Asp586fs)
|
|
|
NM_000282.4(PCCA):c.1812_1815del (p.Val605fs)
|
|
|
NM_000282.4(PCCA):c.183+2T>C
|
rs1555342593
|
|
NM_000282.4(PCCA):c.184-1G>A
|
rs879253807
|
|
NM_000282.4(PCCA):c.1846-1G>A
|
rs1555298451
|
|
NM_000282.4(PCCA):c.1846-1G>T
|
rs1555298451
|
|
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.1891G>C (p.Gly631Arg)
|
rs796052018
|
|
NM_000282.4(PCCA):c.1899+1G>T
|
|
|
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.189del (p.Phe63fs)
|
|
|
NM_000282.4(PCCA):c.1900-1G>A
|
rs2152998142
|
|
NM_000282.4(PCCA):c.1900-2A>G
|
rs2152998141
|
|
NM_000282.4(PCCA):c.1987dup (p.Arg663fs)
|
|
|
NM_000282.4(PCCA):c.1994dup (p.Met666fs)
|
rs1323994245
|
|
NM_000282.4(PCCA):c.2002G>T (p.Gly668Ter)
|
|
|
NM_000282.4(PCCA):c.2027del (p.Lys676fs)
|
rs1555327702
|
|
NM_000282.4(PCCA):c.2040+1G>T
|
rs1555327732
|
|
NM_000282.4(PCCA):c.2040+2T>G
|
|
|
NM_000282.4(PCCA):c.2041-1G>T
|
rs1367867218
|
|
NM_000282.4(PCCA):c.2041_2044del
|
|
|
NM_000282.4(PCCA):c.2077A>T (p.Met693Leu)
|
rs1594160545
|
|
NM_000282.4(PCCA):c.2086C>T (p.Gln696Ter)
|
|
|
NM_000282.4(PCCA):c.2103del (p.Thr704fs)
|
rs1555331314
|
|
NM_000282.4(PCCA):c.2119-2A>G
|
rs867315913
|
|
NM_000282.4(PCCA):c.2159_2162dup (p.Asp722fs)
|
rs1594175453
|
|
NM_000282.4(PCCA):c.2162_2163insAG (p.Asp722fs)
|
rs749875940
|
|
NM_000282.4(PCCA):c.21del (p.Thr8fs)
|
rs1593996210
|
|
NM_000282.4(PCCA):c.232-2A>G
|
rs747968405
|
|
NM_000282.4(PCCA):c.232-2A>T
|
rs747968405
|
|
NM_000282.4(PCCA):c.284del (p.Asp95fs)
|
rs775825345
|
|
NM_000282.4(PCCA):c.300+1G>A
|
|
|
NM_000282.4(PCCA):c.300+2T>G
|
|
|
NM_000282.4(PCCA):c.315_316insT (p.Ala106fs)
|
|
|
NM_000282.4(PCCA):c.317C>A (p.Ala106Glu)
|
|
|
NM_000282.4(PCCA):c.362A>G (p.Tyr121Cys)
|
rs936088423
|
|
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.414+1G>T
|
rs2152383049
|
|
NM_000282.4(PCCA):c.415-1G>C
|
|
|
NM_000282.4(PCCA):c.425G>A (p.Gly142Asp)
|
rs796052019
|
|
NM_000282.4(PCCA):c.440del (p.Leu146_Ser147insTer)
|
rs1555361758
|
|
NM_000282.4(PCCA):c.447del (p.Asn149fs)
|
|
|
NM_000282.4(PCCA):c.449_468+443del
|
rs2152387124
|
|
NM_000282.4(PCCA):c.458_459insAAATT (p.Arg154fs)
|
|
|
NM_000282.4(PCCA):c.459del (p.Arg154fs)
|
|
|
NM_000282.4(PCCA):c.468+1G>C
|
|
|
NM_000282.4(PCCA):c.468+2T>C
|
|
|
NM_000282.4(PCCA):c.491T>C (p.Ile164Thr)
|
rs202247815
|
|
NM_000282.4(PCCA):c.493G>T (p.Gly165Ter)
|
|
|
NM_000282.4(PCCA):c.524G>A (p.Gly175Asp)
|
rs1421021643
|
|
NM_000282.4(PCCA):c.587_588dup (p.Gly197fs)
|
|
|
NM_000282.4(PCCA):c.622del (p.Ile208fs)
|
|
|
NM_000282.4(PCCA):c.637+1G>A
|
rs1265911468
|
|
NM_000282.4(PCCA):c.637+2T>A
|
rs2152522245
|
|
NM_000282.4(PCCA):c.638-1G>A
|
|
|
NM_000282.4(PCCA):c.638-2A>G
|
|
|
NM_000282.4(PCCA):c.638-2del
|
|
|
NM_000282.4(PCCA):c.645dup (p.Val216fs)
|
|
|
NM_000282.4(PCCA):c.659C>A (p.Ala220Asp)
|
rs1555396108
|
|
NM_000282.4(PCCA):c.676_677insT (p.Gly226fs)
|
|
|
NM_000282.4(PCCA):c.677_678insTAAAGGGATTCGTAAGGTT (p.Met229fs)
|
|
|
NM_000282.4(PCCA):c.683G>T (p.Gly228Val)
|
rs1594961620
|
|
NM_000282.4(PCCA):c.69_78del (p.Gln23fs)
|
rs781030239
|
|
NM_000282.4(PCCA):c.716+1G>C
|
|
|
NM_000282.4(PCCA):c.716+2T>C
|
|
|
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.786del (p.Lys262fs)
|
|
|
NM_000282.4(PCCA):c.803G>T (p.Arg268Leu)
|
rs368047060
|
|
NM_000282.4(PCCA):c.805C>T (p.His269Tyr)
|
rs2062620327
|
|
NM_000282.4(PCCA):c.819+1G>A
|
|
|
NM_000282.4(PCCA):c.820-1G>A
|
rs2063103516
|
|
NM_000282.4(PCCA):c.820-1G>T
|
|
|
NM_000282.4(PCCA):c.837del (p.His279fs)
|
|
|
NM_000282.4(PCCA):c.843del (p.Asn281fs)
|
rs1555400381
|
|
NM_000282.4(PCCA):c.844_846delinsAC (p.Ala282fs)
|
|
|
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.869G>A (p.Cys290Tyr)
|
rs1595032920
|
|
NM_000282.4(PCCA):c.870C>A (p.Cys290Ter)
|
|
|
NM_000282.4(PCCA):c.872C>T (p.Ser291Leu)
|
rs1595033018
|
|
NM_000282.4(PCCA):c.889C>T (p.Gln297Ter)
|
|
|
NM_000282.4(PCCA):c.904G>T (p.Glu302Ter)
|
|
|
NM_000282.4(PCCA):c.914+1G>A
|
|
|
NM_000282.4(PCCA):c.915-1G>C
|
rs367615795
|
|
NM_000282.4(PCCA):c.971_974del (p.Ala324fs)
|
|
|
NM_000411.8(HLCS):c.1681dup
|
|
|
NM_000532.5(PCCB):c.1001_1002insACTACTTT (p.Asn335fs)
|
|
|
NM_000532.5(PCCB):c.1090+2T>C
|
rs1553782779
|
|
NM_000532.5(PCCB):c.1091-1G>A
|
rs2108237784
|
|
NM_000532.5(PCCB):c.1091-8_1091-3del
|
rs1249235758
|
|
NM_000532.5(PCCB):c.1094G>A (p.Cys365Tyr)
|
|
|
NM_000532.5(PCCB):c.1095C>A (p.Cys365Ter)
|
|
|
NM_000532.5(PCCB):c.1126C>G (p.Arg376Gly)
|
|
|
NM_000532.5(PCCB):c.1127G>T (p.Arg376Leu)
|
rs142982097
|
|
NM_000532.5(PCCB):c.1145A>T (p.Asp382Val)
|
|
|
NM_000532.5(PCCB):c.1146T>A (p.Asp382Glu)
|
rs2108237867
|
|
NM_000532.5(PCCB):c.1172T>C (p.Phe391Ser)
|
|
|
NM_000532.5(PCCB):c.1172T>G (p.Phe391Cys)
|
|
|
NM_000532.5(PCCB):c.1196C>G (p.Pro399Arg)
|
rs753037539
|
|
NM_000532.5(PCCB):c.1198+1G>A
|
rs1935333494
|
|
NM_000532.5(PCCB):c.1199-1G>A
|
|
|
NM_000532.5(PCCB):c.1215C>G (p.Tyr405Ter)
|
|
|
NM_000532.5(PCCB):c.1217_1219delinsTAGA (p.Gly406fs)
|
|
|
NM_000532.5(PCCB):c.1218_1231delinsTAGAGCACAGGA (p.Gly407fs)
|
rs397507445
|
|
NM_000532.5(PCCB):c.1222ATC[1] (p.Ile409del)
|
|
|
NM_000532.5(PCCB):c.1223_1231delinsCAGGA (p.Ile408fs)
|
|
|
NM_000532.5(PCCB):c.1234G>A (p.Gly412Ser)
|
rs1576360539
|
|
NM_000532.5(PCCB):c.1260dup (p.Glu421Ter)
|
rs1553784569
|
|
NM_000532.5(PCCB):c.1262_1263del (p.Glu421fs)
|
|
|
NM_000532.5(PCCB):c.1288_1299+5del
|
rs1250541852
|
|
NM_000532.5(PCCB):c.1300-1G>A
|
|
|
NM_000532.5(PCCB):c.1300-1G>C
|
|
|
NM_000532.5(PCCB):c.1300-2A>C
|
rs1553784684
|
|
NM_000532.5(PCCB):c.1302_1303del (p.Tyr435fs)
|
|
|
NM_000532.5(PCCB):c.1309G>T (p.Gly437Cys)
|
|
|
NM_000532.5(PCCB):c.1310G>A (p.Gly437Asp)
|
|
|
NM_000532.5(PCCB):c.1313C>A (p.Ala438Asp)
|
|
|
NM_000532.5(PCCB):c.1313C>T (p.Ala438Val)
|
|
|
NM_000532.5(PCCB):c.1339C>T (p.Leu447Phe)
|
rs1576360934
|
|
NM_000532.5(PCCB):c.1373C>T (p.Ala458Val)
|
rs1576360976
|
|
NM_000532.5(PCCB):c.1379_1385del (p.Ile460fs)
|
rs1553784721
|
|
NM_000532.5(PCCB):c.1395_1398+8del
|
|
|
NM_000532.5(PCCB):c.1398+2del
|
rs2108239135
|
|
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.1499-2A>G
|
|
|
NM_000532.5(PCCB):c.14T>G (p.Leu5Ter)
|
rs1292452485
|
|
NM_000532.5(PCCB):c.1523del (p.Pro508fs)
|
|
|
NM_000532.5(PCCB):c.1540C>T (p.Arg514Ter)
|
rs749908889
|
|
NM_000532.5(PCCB):c.154_183+17del
|
rs2108128051
|
|
NM_000532.5(PCCB):c.155_183+17del
|
rs1941483558
|
|
NM_000532.5(PCCB):c.1597A>G (p.Lys533Glu)
|
rs1935483520
|
|
NM_000532.5(PCCB):c.167_179delinsC (p.Asp56_Lys60delinsAla)
|
|
|
NM_000532.5(PCCB):c.175C>A (p.His59Asn)
|
|
|
NM_000532.5(PCCB):c.183+1G>A
|
rs398123460
|
|
NM_000532.5(PCCB):c.183+1G>C
|
|
|
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.184-2A>G
|
rs1553774015
|
|
NM_000532.5(PCCB):c.187_203del
|
rs2108137253
|
|
NM_000532.5(PCCB):c.196del (p.Ala66fs)
|
rs1553774018
|
|
NM_000532.5(PCCB):c.303+1G>T
|
rs1941662983
|
|
NM_000532.5(PCCB):c.304-1G>A
|
|
|
NM_000532.5(PCCB):c.304-2A>G
|
|
|
NM_000532.5(PCCB):c.319G>A (p.Val107Met)
|
rs1553774114
|
|
NM_000532.5(PCCB):c.334G>A (p.Gly112Ser)
|
rs1941676220
|
|
NM_000532.5(PCCB):c.365T>C (p.Phe122Ser)
|
rs1576402832
|
|
NM_000532.5(PCCB):c.371dup (p.Asp125fs)
|
|
|
NM_000532.5(PCCB):c.372+1G>A
|
|
|
NM_000532.5(PCCB):c.372+2T>C
|
rs879253814
|
|
NM_000532.5(PCCB):c.373-1G>C
|
rs2108144374
|
|
NM_000532.5(PCCB):c.429+1G>A
|
rs1317017233
|
|
NM_000532.5(PCCB):c.429+3_429+6del
|
rs1941792728
|
|
NM_000532.5(PCCB):c.433_434insGCTGTTA (p.Met145fs)
|
rs2108146615
|
|
NM_000532.5(PCCB):c.446dup (p.Thr150fs)
|
|
|
NM_000532.5(PCCB):c.484G>A (p.Gly162Arg)
|
|
|
NM_000532.5(PCCB):c.487_488dup (p.Ala164fs)
|
rs1553774884
|
|
NM_000532.5(PCCB):c.488del (p.Gly163fs)
|
|
|
NM_000532.5(PCCB):c.493C>G (p.Arg165Gly)
|
rs879253815
|
|
NM_000532.5(PCCB):c.494G>C (p.Arg165Pro)
|
|
|
NM_000532.5(PCCB):c.499C>T (p.Gln167Ter)
|
|
|
NM_000532.5(PCCB):c.517_518del (p.Leu173fs)
|
rs755776820
|
|
NM_000532.5(PCCB):c.518_543del (p.Ser172_Leu173insTer)
|
rs2108146780
|
|
NM_000532.5(PCCB):c.52del (p.Ala18fs)
|
|
|
NM_000532.5(PCCB):c.543+1G>A
|
rs2108146835
|
|
NM_000532.5(PCCB):c.543+1G>C
|
|
|
NM_000532.5(PCCB):c.543+2T>G
|
|
|
NM_000532.5(PCCB):c.553dup (p.Thr185fs)
|
rs777455573
|
|
NM_000532.5(PCCB):c.593G>A (p.Gly198Asp)
|
|
|
NM_000532.5(PCCB):c.601_602insGG (p.Ala201fs)
|
rs1553777571
|
|
NM_000532.5(PCCB):c.611C>T (p.Ala204Val)
|
rs760499581
|
|
NM_000532.5(PCCB):c.614T>G (p.Val205Gly)
|
|
|
NM_000532.5(PCCB):c.624_627dup (p.Leu210fs)
|
|
|
NM_000532.5(PCCB):c.632C>G (p.Thr211Arg)
|
rs2108182082
|
|
NM_000532.5(PCCB):c.638del (p.Phe213fs)
|
rs1196443543
|
|
NM_000532.5(PCCB):c.649dup (p.Val217fs)
|
rs796052021
|
|
NM_000532.5(PCCB):c.654+1G>C
|
rs1553777590
|
|
NM_000532.5(PCCB):c.655-2A>G
|
rs1553778865
|
|
NM_000532.5(PCCB):c.682C>G (p.Pro228Ala)
|
rs1052979420
|
|
NM_000532.5(PCCB):c.703A>C (p.Thr235Pro)
|
rs1021206121
|
|
NM_000532.5(PCCB):c.732dup (p.Gly245fs)
|
rs2108197325
|
|
NM_000532.5(PCCB):c.733G>T (p.Gly245Cys)
|
|
|
NM_000532.5(PCCB):c.737G>A (p.Gly246Asp)
|
|
|
NM_000532.5(PCCB):c.748C>T (p.His250Tyr)
|
|
|
NM_000532.5(PCCB):c.749A>G (p.His250Arg)
|
rs1933813724
|
|
NM_000532.5(PCCB):c.763+1G>A
|
rs1553778912
|
|
NM_000532.5(PCCB):c.763+2T>A
|
rs1553778914
|
|
NM_000532.5(PCCB):c.763G>A (p.Gly255Ser)
|
rs1553778909
|
|
NM_000532.5(PCCB):c.77_183+30delinsCC
|
|
|
NM_000532.5(PCCB):c.791A>G (p.Asp264Gly)
|
rs1560017781
|
|
NM_000532.5(PCCB):c.800C>A (p.Ala267Asp)
|
rs774249198
|
|
NM_000532.5(PCCB):c.809del (p.Asn270fs)
|
|
|
NM_000532.5(PCCB):c.835C>T (p.Pro279Ser)
|
|
|
NM_000532.5(PCCB):c.836C>G (p.Pro279Arg)
|
rs780837200
|
|
NM_000532.5(PCCB):c.838dup (p.Leu280fs)
|
rs769968548
|
|
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.884+1G>C
|
rs1553779458
|
|
NM_000532.5(PCCB):c.884G>C (p.Ser295Thr)
|
rs752029455
|
|
NM_000532.5(PCCB):c.885-2A>G
|
rs1553780163
|
|
NM_000532.5(PCCB):c.923T>A (p.Leu308Ter)
|
|
|
NM_000532.5(PCCB):c.934A>T (p.Lys312Ter)
|
|
|
NM_000532.5(PCCB):c.947T>G (p.Met316Arg)
|
rs2108208811
|
|
NM_000532.5(PCCB):c.967-2A>C
|
rs1553782747
|
|
NM_001001563.5(TIMM50):c.328C>T (p.Gln110Ter)
|
|
|
NM_001081.4(CUBN):c.10462C>T (p.Arg3488Ter)
|
rs201426128
|
|
NM_001081.4(CUBN):c.2792-1G>T
|
rs2131845016
|
|
NM_001081.4(CUBN):c.4165del (p.Tyr1389fs)
|
rs774493547
|
|
NM_001081.4(CUBN):c.4351-1G>C
|
|
|
NM_001081.4(CUBN):c.4689_4690delinsAT (p.Cys1563_Ile1564delinsTer)
|
rs2131697094
|
|
NM_001081.4(CUBN):c.4973del (p.Asn1658fs)
|
rs1588511533
|
|
NM_001081.4(CUBN):c.5318G>A (p.Gly1773Asp)
|
|
|
NM_001243279.3(ACSF3):c.1003del (p.Leu335fs)
|
rs2151453936
|
|
NM_001243279.3(ACSF3):c.1028G>A (p.Trp343Ter)
|
rs1131691498
|
|
NM_001243279.3(ACSF3):c.1075G>C (p.Glu359Gln)
|
rs150487794
|
|
NM_001243279.3(ACSF3):c.1110del (p.Ala371fs)
|
rs2151454690
|
|
NM_001243279.3(ACSF3):c.1126+1G>A
|
rs916461556
|
|
NM_001243279.3(ACSF3):c.1127-2A>T
|
|
|
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.1231_1239+9del
|
|
|
NM_001243279.3(ACSF3):c.1239+1G>A
|
|
|
NM_001243279.3(ACSF3):c.1240-1G>A
|
|
|
NM_001243279.3(ACSF3):c.1240-1G>C
|
|
|
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>A
|
|
|
NM_001243279.3(ACSF3):c.1366+1G>T
|
|
|
NM_001243279.3(ACSF3):c.1367-23_1396del
|
|
|
NM_001243279.3(ACSF3):c.1367-2_1367-1del
|
|
|
NM_001243279.3(ACSF3):c.1367-41_1398delinsATCCG
|
|
|
NM_001243279.3(ACSF3):c.136_146del (p.Val46fs)
|
rs2151405491
|
|
NM_001243279.3(ACSF3):c.1378dup (p.Val460fs)
|
rs751342087
|
|
NM_001243279.3(ACSF3):c.1385_1407delinsCGGAT (p.Lys462_Arg469delinsThrAsp)
|
|
|
NM_001243279.3(ACSF3):c.1407_1408del (p.Gly470fs)
|
rs1912702795
|
|
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.1502-1G>C
|
|
|
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.1629delinsAC (p.Tyr544fs)
|
rs1914445437
|
|
NM_001243279.3(ACSF3):c.1673G>A (p.Arg558Gln)
|
rs140328142
|
|
NM_001243279.3(ACSF3):c.1673G>C (p.Arg558Pro)
|
rs140328142
|
|
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.403G>T (p.Glu135Ter)
|
rs752534981
|
|
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.583A>T (p.Lys195Ter)
|
rs1366314967
|
|
NM_001243279.3(ACSF3):c.634G>A (p.Val212Met)
|
|
|
NM_001243279.3(ACSF3):c.653del (p.Asn218fs)
|
|
|
NM_001243279.3(ACSF3):c.666+1G>T
|
|
|
NM_001243279.3(ACSF3):c.667-1G>T
|
|
|
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.823-1G>A
|
|
|
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_001243279.3(ACSF3):c.978-2A>G
|
|
|
NM_001258392.3(CLPB):c.1066+1G>A
|
rs1555087619
|
|
NM_001258392.3(CLPB):c.1329+1G>A
|
rs2135500473
|
|
NM_001258392.3(CLPB):c.1560+2_1560+5del
|
|
|
NM_001258392.3(CLPB):c.1610A>G (p.Tyr537Cys)
|
rs150857620
|
|
NM_001258392.3(CLPB):c.1681-1G>A
|
|
|
NM_001258392.3(CLPB):c.221dup (p.Gly76fs)
|
rs2135181870
|
|
NM_001258392.3(CLPB):c.455+1G>A
|
rs1856507751
|
|
NM_001258392.3(CLPB):c.775+1G>A
|
|
|
NM_001258392.3(CLPB):c.873+1G>A
|
rs974377052
|
|
NM_001352514.2(HLCS):c.1016_1017del (p.Ile339fs)
|
|
|
NM_001352514.2(HLCS):c.1041del (p.Leu348fs)
|
|
|
NM_001352514.2(HLCS):c.1045G>T (p.Glu349Ter)
|
rs148324626
|
|
NM_001352514.2(HLCS):c.1045del (p.Glu349fs)
|
|
|
NM_001352514.2(HLCS):c.1063_1064del (p.Asp355fs)
|
|
|
NM_001352514.2(HLCS):c.1083T>A (p.Cys361Ter)
|
|
|
NM_001352514.2(HLCS):c.1132C>T (p.Gln378Ter)
|
rs1481968221
|
|
NM_001352514.2(HLCS):c.1133del (p.Gln378fs)
|
|
|
NM_001352514.2(HLCS):c.1151T>C (p.Leu384Pro)
|
rs119103227
|
|
NM_001352514.2(HLCS):c.1151T>G (p.Leu384Arg)
|
rs119103227
|
|
NM_001352514.2(HLCS):c.1163G>C (p.Gly388Ala)
|
rs1057516035
|
|
NM_001352514.2(HLCS):c.1219_1222dup (p.Gly408fs)
|
|
|
NM_001352514.2(HLCS):c.1223dup (p.Ala409fs)
|
|
|
NM_001352514.2(HLCS):c.1250T>A (p.Leu417Ter)
|
rs2066894484
|
|
NM_001352514.2(HLCS):c.1275_1283delinsTGAGCACT (p.Val427fs)
|
|
|
NM_001352514.2(HLCS):c.1276G>T (p.Glu426Ter)
|
|
|
NM_001352514.2(HLCS):c.1289del (p.Ser430fs)
|
|
|
NM_001352514.2(HLCS):c.1302_1303insC (p.Gly435fs)
|
|
|
NM_001352514.2(HLCS):c.1315del (p.Gln439fs)
|
|
|
NM_001352514.2(HLCS):c.1326del (p.Val443fs)
|
|
|
NM_001352514.2(HLCS):c.1351C>T (p.Gln451Ter)
|
|
|
NM_001352514.2(HLCS):c.1358_1359del (p.His453fs)
|
|
|
NM_001352514.2(HLCS):c.1404del (p.Phe468fs)
|
|
|
NM_001352514.2(HLCS):c.1418dup (p.Glu474fs)
|
rs1555955827
|
|
NM_001352514.2(HLCS):c.1434C>A (p.Cys478Ter)
|
rs2066882139
|
|
NM_001352514.2(HLCS):c.1437+1G>A
|
|
|
NM_001352514.2(HLCS):c.1439T>A (p.Val480Glu)
|
rs1198548955
|
|
NM_001352514.2(HLCS):c.1466_1472delinsGCA (p.Asn489fs)
|
|
|
NM_001352514.2(HLCS):c.1524C>G (p.Tyr508Ter)
|
|
|
NM_001352514.2(HLCS):c.1550_1551insT (p.Leu518fs)
|
|
|
NM_001352514.2(HLCS):c.1576C>T (p.Gln526Ter)
|
rs1393866282
|
|
NM_001352514.2(HLCS):c.1600_1604del (p.Tyr534fs)
|
|
|
NM_001352514.2(HLCS):c.1610C>A (p.Ser537Ter)
|
|
|
NM_001352514.2(HLCS):c.1610C>G (p.Ser537Ter)
|
|
|
NM_001352514.2(HLCS):c.1620+1G>A
|
rs1555951858
|
|
NM_001352514.2(HLCS):c.1621-1G>C
|
rs1164174059
|
|
NM_001352514.2(HLCS):c.1621-2A>T
|
|
|
NM_001352514.2(HLCS):c.1631del (p.Asp544fs)
|
|
|
NM_001352514.2(HLCS):c.1642C>T (p.Gln548Ter)
|
rs2065045000
|
|
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.1719C>A (p.Tyr573Ter)
|
rs148814769
|
|
NM_001352514.2(HLCS):c.1752_1759delinsTTT (p.Pro585fs)
|
|
|
NM_001352514.2(HLCS):c.1759_1760insCC (p.Val587fs)
|
|
|
NM_001352514.2(HLCS):c.1771G>T (p.Glu591Ter)
|
rs2065038117
|
|
NM_001352514.2(HLCS):c.1781C>G (p.Ser594Ter)
|
rs973578825
|
|
NM_001352514.2(HLCS):c.1858_1868del (p.Glu620fs)
|
|
|
NM_001352514.2(HLCS):c.1869del (p.Thr624fs)
|
rs2065031709
|
|
NM_001352514.2(HLCS):c.1892+1G>A
|
|
|
NM_001352514.2(HLCS):c.1902_1903del (p.Phe634fs)
|
|
|
NM_001352514.2(HLCS):c.1942del (p.Arg648fs)
|
|
|
NM_001352514.2(HLCS):c.1957A>T (p.Lys653Ter)
|
rs2090069178
|
|
NM_001352514.2(HLCS):c.1960+1G>A
|
rs2090068896
|
|
NM_001352514.2(HLCS):c.1961-2A>G
|
|
|
NM_001352514.2(HLCS):c.1974T>A (p.Asn658Lys)
|
|
|
NM_001352514.2(HLCS):c.2044G>T (p.Gly682Ter)
|
rs1324486146
|
|
NM_001352514.2(HLCS):c.2089G>A (p.Val697Met)
|
rs119103231
|
|
NM_001352514.2(HLCS):c.2092del (p.Glu698fs)
|
|
|
NM_001352514.2(HLCS):c.2114_2121+5del
|
|
|
NM_001352514.2(HLCS):c.2185G>A (p.Gly729Arg)
|
|
|
NM_001352514.2(HLCS):c.2201C>G (p.Ser734Ter)
|
rs2089755918
|
|
NM_001352514.2(HLCS):c.2237-2A>G
|
|
|
NM_001352514.2(HLCS):c.2237-56_2255del
|
rs2145732111
|
|
NM_001352514.2(HLCS):c.2280dup (p.Asn761fs)
|
rs1555882068
|
|
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.494-2A>T
|
|
|
NM_001352514.2(HLCS):c.513dup (p.Thr172fs)
|
|
|
NM_001352514.2(HLCS):c.542C>A (p.Ser181Ter)
|
rs2066942076
|
|
NM_001352514.2(HLCS):c.569_585delinsTTGCTTGAGATTAAGCCTGAGATTAAGG (p.Pro190_Ser195delinsLeuAlaTer)
|
rs1064796014
|
|
NM_001352514.2(HLCS):c.616del (p.Glu206fs)
|
|
|
NM_001352514.2(HLCS):c.664_667del (p.Gln222fs)
|
rs776431253
|
|
NM_001352514.2(HLCS):c.687del (p.Ser230fs)
|
|
|
NM_001352514.2(HLCS):c.726dup (p.Val243fs)
|
|
|
NM_001352514.2(HLCS):c.759C>A (p.Cys253Ter)
|
|
|
NM_001352514.2(HLCS):c.774_775insTGTTCTCGGCAGACGCAAA (p.Leu259fs)
|
|
|
NM_001352514.2(HLCS):c.794_795del (p.Glu265fs)
|
|
|
NM_001352514.2(HLCS):c.821_822insTTCCATTG (p.Ile275fs)
|
|
|
NM_001352514.2(HLCS):c.840C>A (p.Tyr280Ter)
|
rs779907293
|
|
NM_001352514.2(HLCS):c.857T>A (p.Leu286Ter)
|
rs144572349
|
|
NM_001352514.2(HLCS):c.857del (p.Leu286fs)
|
|
|
NM_001352514.2(HLCS):c.863del (p.Ser288fs)
|
rs1015594025
|
|
NM_001352514.2(HLCS):c.886G>T (p.Glu296Ter)
|
rs760029192
|
|
NM_001352514.2(HLCS):c.929del (p.Asn310fs)
|
|
|
NM_001352514.2(HLCS):c.958del (p.Gln320fs)
|
|
|
NM_001352514.2(HLCS):c.958dup (p.Gln320fs)
|
|
|
NM_001352514.2(HLCS):c.978_979insTGTCTCTTATACACAT (p.His327fs)
|
|
|
NM_001370658.1(BTD):c.-17+1G>A
|
rs1057516440
|
|
NM_001370658.1(BTD):c.-17+1G>C
|
rs1057516440
|
|
NM_001370658.1(BTD):c.-17+1G>T
|
rs1057516440
|
|
NM_001370658.1(BTD):c.-17+1del
|
rs1057517114
|
|
NM_001370658.1(BTD):c.-17_-17+3del
|
rs1050514843
|
|
NM_001370658.1(BTD):c.-18A>T
|
rs143058480
|
|
NM_001370658.1(BTD):c.-24A>T
|
|
|
NM_001370658.1(BTD):c.1025T>A (p.Leu342Ter)
|
rs747548016
|
|
NM_001370658.1(BTD):c.1069G>T (p.Glu357Ter)
|
rs1057516252
|
|
NM_001370658.1(BTD):c.1098G>A (p.Trp366Ter)
|
rs397514434
|
|
NM_001370658.1(BTD):c.1110_1111dup (p.Pro371fs)
|
rs1057517256
|
|
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.1211G>A (p.Cys404Tyr)
|
rs397514335
|
|
NM_001370658.1(BTD):c.1247_1248del (p.Glu416fs)
|
rs1057517225
|
|
NM_001370658.1(BTD):c.1252T>C (p.Tyr418His)
|
|
|
NM_001370658.1(BTD):c.1253A>G (p.Tyr418Cys)
|
rs397514415
|
|
NM_001370658.1(BTD):c.1254T>A (p.Tyr418Ter)
|
rs397514416
|
|
NM_001370658.1(BTD):c.1259T>C (p.Leu420Pro)
|
rs1575031012
|
|
NM_001370658.1(BTD):c.125T>C (p.Val42Ala)
|
|
|
NM_001370658.1(BTD):c.1264del (p.Val422fs)
|
rs1057517362
|
|
NM_001370658.1(BTD):c.1271A>G (p.Asp424Gly)
|
rs2065662435
|
|
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.1298dup (p.Tyr433Ter)
|
rs1553654145
|
|
NM_001370658.1(BTD):c.1300T>G (p.Tyr434Asp)
|
|
|
NM_001370658.1(BTD):c.1309G>T (p.Val437Leu)
|
rs146600671
|
|
NM_001370658.1(BTD):c.1334dup (p.Leu446fs)
|
rs397514440
|
|
NM_001370658.1(BTD):c.1350dup (p.Cys451fs)
|
rs886041559
|
|
NM_001370658.1(BTD):c.1352G>T (p.Cys451Phe)
|
|
|
NM_001370658.1(BTD):c.1372G>C (p.Ala458Pro)
|
rs181396238
|
|
NM_001370658.1(BTD):c.1386dup (p.Glu463Ter)
|
|
|
NM_001370658.1(BTD):c.1387G>T (p.Glu463Ter)
|
rs1559600871
|
|
NM_001370658.1(BTD):c.1396_1415del (p.Leu466fs)
|
rs1553654178
|
|
NM_001370658.1(BTD):c.1399del (p.Trp467fs)
|
rs397514423
|
|
NM_001370658.1(BTD):c.1400G>A (p.Trp467Ter)
|
rs1277029090
|
|
NM_001370658.1(BTD):c.1401G>A (p.Trp467Ter)
|
rs1553654186
|
|
NM_001370658.1(BTD):c.1406A>G (p.Asn469Ser)
|
|
|
NM_001370658.1(BTD):c.1415C>T (p.Thr472Ile)
|
rs796051941
|
|
NM_001370658.1(BTD):c.1419del (p.Tyr474fs)
|
rs1559600938
|
|
NM_001370658.1(BTD):c.142_145dup (p.Leu49fs)
|
rs1205964567
|
|
NM_001370658.1(BTD):c.1466C>G (p.Pro489Arg)
|
rs1559601041
|
|
NM_001370658.1(BTD):c.1495dup (p.Tyr499fs)
|
rs1553654220
|
|
NM_001370658.1(BTD):c.1503del (p.Arg502fs)
|
rs1163419871
|
|
NM_001370658.1(BTD):c.1550G>A (p.Gly517Glu)
|
rs397514428
|
|
NM_001370658.1(BTD):c.1552C>A (p.Arg518Ser)
|
rs80338686
|
|
NM_001370658.1(BTD):c.1568A>G (p.Asp523Gly)
|
rs1050035768
|
|
NM_001370658.1(BTD):c.167del (p.Leu56fs)
|
|
|
NM_001370658.1(BTD):c.177_178del (p.Gln60fs)
|
|
|
NM_001370658.1(BTD):c.218A>G (p.Tyr73Cys)
|
rs397514348
|
|
NM_001370658.1(BTD):c.220G>T (p.Glu74Ter)
|
|
|
NM_001370658.1(BTD):c.229G>A (p.Val77Met)
|
|
|
NM_001370658.1(BTD):c.238G>A (p.Ala80Thr)
|
rs397514350
|
|
NM_001370658.1(BTD):c.250-1G>T
|
rs1553653053
|
|
NM_001370658.1(BTD):c.253G>A (p.Val85Ile)
|
|
|
NM_001370658.1(BTD):c.256C>T (p.Gln86Ter)
|
rs1553653062
|
|
NM_001370658.1(BTD):c.270del (p.Pro91fs)
|
|
|
NM_001370658.1(BTD):c.274G>C (p.Glu92Gln)
|
rs397514352
|
|
NM_001370658.1(BTD):c.312_315dup (p.Tyr106fs)
|
rs1057516223
|
|
NM_001370658.1(BTD):c.333del (p.Phe111fs)
|
rs397514356
|
|
NM_001370658.1(BTD):c.364C>A (p.Pro122Thr)
|
rs397514357
|
|
NM_001370658.1(BTD):c.364C>T (p.Pro122Ser)
|
|
|
NM_001370658.1(BTD):c.38_44delinsTCC (p.Cys13fs)
|
rs80338684
|
|
NM_001370658.1(BTD):c.399G>A (p.Glu133=)
|
rs397514360
|
|
NM_001370658.1(BTD):c.416G>A (p.Ser139Asn)
|
rs144717999
|
|
NM_001370658.1(BTD):c.419G>A (p.Cys140Tyr)
|
|
|
NM_001370658.1(BTD):c.419G>C (p.Cys140Ser)
|
|
|
NM_001370658.1(BTD):c.41_44del (p.Gly14fs)
|
rs1249246307
|
|
NM_001370658.1(BTD):c.44_45del (p.Cys15fs)
|
rs750965140
|
|
NM_001370658.1(BTD):c.466A>T (p.Lys156Ter)
|
|
|
NM_001370658.1(BTD):c.47dup (p.Tyr16Ter)
|
rs1057516812
|
|
NM_001370658.1(BTD):c.496T>C (p.Cys166Arg)
|
rs955385869
|
|
NM_001370658.1(BTD):c.496T>G (p.Cys166Gly)
|
rs955385869
|
|
NM_001370658.1(BTD):c.522C>G (p.Phe174Leu)
|
rs750363004
|
|
NM_001370658.1(BTD):c.524A>G (p.Asn175Ser)
|
rs397514371
|
|
NM_001370658.1(BTD):c.527del (p.Thr176fs)
|
rs1553653680
|
|
NM_001370658.1(BTD):c.528_542del (p.Val178_Asn182del)
|
rs1575029290
|
|
NM_001370658.1(BTD):c.52del (p.Val18fs)
|
|
|
NM_001370658.1(BTD):c.545A>T (p.Asn182Ile)
|
rs397514376
|
|
NM_001370658.1(BTD):c.550G>A (p.Gly184Arg)
|
|
|
NM_001370658.1(BTD):c.569A>G (p.Tyr190Cys)
|
rs397507174
|
|
NM_001370658.1(BTD):c.589_591delinsAGTA (p.Phe197fs)
|
rs1553653732
|
|
NM_001370658.1(BTD):c.58_59del (p.Leu20fs)
|
rs1553652080
|
|
NM_001370658.1(BTD):c.594G>C (p.Glu198Asp)
|
rs397514379
|
|
NM_001370658.1(BTD):c.59T>C (p.Leu20Pro)
|
|
|
NM_001370658.1(BTD):c.622G>T (p.Asp208Tyr)
|
rs397514380
|
|
NM_001370658.1(BTD):c.640A>G (p.Thr214Ala)
|
|
|
NM_001370658.1(BTD):c.641C>T (p.Thr214Ile)
|
rs587783005
|
|
NM_001370658.1(BTD):c.675C>A (p.Cys225Ter)
|
|
|
NM_001370658.1(BTD):c.682A>C (p.Ile228Leu)
|
rs398123140
|
|
NM_001370658.1(BTD):c.698C>T (p.Pro233Leu)
|
rs397514438
|
|
NM_001370658.1(BTD):c.705C>G (p.Ile235Met)
|
rs1575029719
|
|
NM_001370658.1(BTD):c.710T>A (p.Val237Asp)
|
rs1190721481
|
|
NM_001370658.1(BTD):c.755G>A (p.Trp252Ter)
|
rs148031701
|
|
NM_001370658.1(BTD):c.773T>C (p.Leu258Pro)
|
rs397514389
|
|
NM_001370658.1(BTD):c.799del (p.Ala267fs)
|
|
|
NM_001370658.1(BTD):c.806C>T (p.Ala269Val)
|
rs1057520533
|
|
NM_001370658.1(BTD):c.827T>G (p.Val276Gly)
|
rs397514391
|
|
NM_001370658.1(BTD):c.835G>C (p.Ala279Pro)
|
rs1157567876
|
|
NM_001370658.1(BTD):c.875G>T (p.Gly292Val)
|
|
|
NM_001370658.1(BTD):c.881A>T (p.His294Leu)
|
|
|
NM_001370658.1(BTD):c.920dup (p.Asn307fs)
|
|
|
NM_001370658.1(BTD):c.932_941del (p.His311fs)
|
rs773137513
|
|
NM_001609.4(ACADSB):c.1128+1_1128+3del
|
rs1228768873
|
|
NM_001609.4(ACADSB):c.1228+1G>A
|
rs943046481
|
|
NM_001609.4(ACADSB):c.1228+2T>C
|
rs1850655600
|
|
NM_001609.4(ACADSB):c.202+1G>C
|
|
|
NM_001609.4(ACADSB):c.653dup (p.Val219fs)
|
rs755014798
|
|
NM_001609.4(ACADSB):c.746del (p.Pro249fs)
|
rs779015128
|
|
NM_001609.4(ACADSB):c.824del (p.Ile275fs)
|
rs2133484638
|
|
NM_001609.4(ACADSB):c.901-2A>G
|
|
|
NM_001698.3(AUH):c.373C>T (p.Arg125Trp)
|
rs200030276
|
|
NM_001698.3(AUH):c.556G>T (p.Gly186Cys)
|
rs1040881767
|
|
NM_001698.3(AUH):c.584A>C (p.Asp195Ala)
|
rs1827482942
|
|
NM_001698.3(AUH):c.599-2A>G
|
rs1587799880
|
|
NM_002225.5(IVD):c.1007G>A (p.Cys336Tyr)
|
|
|
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.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.1179del (p.Leu394fs)
|
rs786204613
|
|
NM_002225.5(IVD):c.1183C>T (p.Arg395Ter)
|
rs398123681
|
|
NM_002225.5(IVD):c.1229_1256del (p.Arg410fs)
|
rs1555405428
|
|
NM_002225.5(IVD):c.122G>A (p.Gly41Glu)
|
rs2141290050
|
|
NM_002225.5(IVD):c.144+1G>A
|
rs928991928
|
|
NM_002225.5(IVD):c.145-2A>T
|
|
|
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.149G>T (p.Arg50Leu)
|
|
|
NM_002225.5(IVD):c.157_160dup (p.Ala54fs)
|
rs1555403211
|
|
NM_002225.5(IVD):c.158T>C (p.Met53Thr)
|
rs1890589984
|
|
NM_002225.5(IVD):c.254G>A (p.Gly85Glu)
|
rs2141304438
|
|
NM_002225.5(IVD):c.263del (p.Gly88fs)
|
|
|
NM_002225.5(IVD):c.272del (p.Gly91fs)
|
|
|
NM_002225.5(IVD):c.287-2A>C
|
rs781340220
|
|
NM_002225.5(IVD):c.287-2A>G
|
rs781340220
|
|
NM_002225.5(IVD):c.294T>G (p.Tyr98Ter)
|
|
|
NM_002225.5(IVD):c.350G>A (p.Arg117Gln)
|
rs145725101
|
|
NM_002225.5(IVD):c.359G>A (p.Gly120Glu)
|
|
|
NM_002225.5(IVD):c.394del (p.Leu132fs)
|
|
|
NM_002225.5(IVD):c.433C>T (p.Gln145Ter)
|
|
|
NM_002225.5(IVD):c.439G>T (p.Glu147Ter)
|
|
|
NM_002225.5(IVD):c.442A>T (p.Lys148Ter)
|
|
|
NM_002225.5(IVD):c.44G>A (p.Trp15Ter)
|
rs907414760
|
|
NM_002225.5(IVD):c.457-1G>A
|
|
|
NM_002225.5(IVD):c.457-2A>C
|
|
|
NM_002225.5(IVD):c.457-2A>G
|
rs771914739
|
|
NM_002225.5(IVD):c.457-2A>T
|
rs771914739
|
|
NM_002225.5(IVD):c.457-3_457-2delinsGG
|
rs786204427
|
|
NM_002225.5(IVD):c.457C>G (p.Leu153Val)
|
rs763665120
|
|
NM_002225.5(IVD):c.45del (p.Ser14_Trp15insTer)
|
|
|
NM_002225.5(IVD):c.464GTG[3] (p.Gly156dup)
|
rs796051982
|
|
NM_002225.5(IVD):c.466G>A (p.Gly156Ser)
|
rs1555404010
|
|
NM_002225.5(IVD):c.467G>C (p.Gly156Ala)
|
rs1221254988
|
|
NM_002225.5(IVD):c.491T>C (p.Met164Thr)
|
|
|
NM_002225.5(IVD):c.526A>G (p.Met176Val)
|
|
|
NM_002225.5(IVD):c.546_547delinsT (p.Lys182fs)
|
|
|
NM_002225.5(IVD):c.551-1G>A
|
rs1057517043
|
|
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.640_641del (p.Ala214fs)
|
|
|
NM_002225.5(IVD):c.685_687+15del
|
rs2141332016
|
|
NM_002225.5(IVD):c.687+1G>C
|
rs2141332035
|
|
NM_002225.5(IVD):c.687+2T>C
|
rs2141332040
|
|
NM_002225.5(IVD):c.693dup (p.Pro232fs)
|
|
|
NM_002225.5(IVD):c.711dup (p.Lys238Ter)
|
rs1555404426
|
|
NM_002225.5(IVD):c.715A>T (p.Lys239Ter)
|
|
|
NM_002225.5(IVD):c.744dup (p.Asn249Ter)
|
rs1057516769
|
|
NM_002225.5(IVD):c.761_785-762del
|
|
|
NM_002225.5(IVD):c.785-1G>A
|
rs1555404784
|
|
NM_002225.5(IVD):c.785-2A>T
|
|
|
NM_002225.5(IVD):c.785-9del
|
|
|
NM_002225.5(IVD):c.813_814insAGACA (p.Gly272fs)
|
|
|
NM_002225.5(IVD):c.822del (p.Val273_Tyr274insTer)
|
|
|
NM_002225.5(IVD):c.832A>G (p.Ser278Gly)
|
|
|
NM_002225.5(IVD):c.848A>G (p.Glu283Gly)
|
rs1314850102
|
|
NM_002225.5(IVD):c.850C>T (p.Arg284Trp)
|
|
|
NM_002225.5(IVD):c.870dup (p.Pro291fs)
|
rs759159766
|
|
NM_002225.5(IVD):c.878+1G>A
|
rs745629936
|
|
NM_002225.5(IVD):c.878+2T>C
|
|
|
NM_002225.5(IVD):c.883A>T (p.Met295Leu)
|
rs1595786853
|
|
NM_002225.5(IVD):c.928del (p.Glu310fs)
|
|
|
NM_002225.5(IVD):c.940C>T (p.Gln314Ter)
|
|
|
NM_002225.5(IVD):c.958C>T (p.Gln320Ter)
|
|
|
NM_002225.5(IVD):c.960+1G>A
|
|
|
NM_002225.5(IVD):c.960G>T (p.Gln320His)
|
rs367814475
|
|
NM_002225.5(IVD):c.961-1G>T
|
rs1555405067
|
|
NM_002225.5(IVD):c.961-2A>G
|
rs1057517056
|
|
NM_002225.5(IVD):c.961-2A>T
|
rs1057517056
|
|
NM_002225.5(IVD):c.967C>G (p.Gln323Glu)
|
rs1891639284
|
|
NM_002225.5(IVD):c.974del (p.Lys325fs)
|
rs1555405070
|
|
NM_002225.5(IVD):c.977T>C (p.Met326Thr)
|
rs1891640609
|
|
NM_002225.5(IVD):c.986T>C (p.Met329Thr)
|
|
|
NM_002225.5(IVD):c.994del (p.Arg332fs)
|
rs1555405080
|
|
NM_005050.4(ABCD4):c.1118+1G>A
|
|
|
NM_005050.4(ABCD4):c.1295G>A (p.Arg432Gln)
|
rs745414252
|
|
NM_005050.4(ABCD4):c.1457-1G>C
|
|
|
NM_005050.4(ABCD4):c.1588C>T (p.Gln530Ter)
|
rs767795583
|
|
NM_005050.4(ABCD4):c.1597_1598del (p.Ser533fs)
|
|
|
NM_005050.4(ABCD4):c.301del (p.Gln101fs)
|
|
|
NM_005050.4(ABCD4):c.719+2T>G
|
rs2082518811
|
|
NM_005334.3(HCFC1):c.5705G>A (p.Ser1902Asn)
|
|
|
NM_013247.5(HTRA2):c.1013_1015del (p.Leu338del)
|
rs1675617353
|
|
NM_013247.5(HTRA2):c.573dup (p.Leu192fs)
|
rs2104369249
|
|
NM_014362.4(HIBCH):c.1128dup (p.Lys377Ter)
|
rs863225062
|
|
NM_014362.4(HIBCH):c.212A>C (p.Gln71Pro)
|
rs1553506164
|
|
NM_014362.4(HIBCH):c.385+2T>A
|
rs2105985080
|
|
NM_014362.4(HIBCH):c.386-1G>C
|
rs1203170244
|
|
NM_014362.4(HIBCH):c.410C>T (p.Ala137Val)
|
rs1114167288
|
|
NM_014362.4(HIBCH):c.439-1G>A
|
rs2105952039
|
|
NM_014362.4(HIBCH):c.439-2A>G
|
rs1180861300
|
|
NM_014362.4(HIBCH):c.457C>T (p.His153Tyr)
|
rs752450856
|
|
NM_014362.4(HIBCH):c.488G>T (p.Cys163Phe)
|
rs74832989
|
|
NM_014362.4(HIBCH):c.556C>T (p.Arg186Ter)
|
|
|
NM_014362.4(HIBCH):c.664-2A>G
|
|
|
NM_014362.4(HIBCH):c.760_761delinsAT (p.Asp254Ile)
|
|
|
NM_014362.4(HIBCH):c.777T>A (p.Phe259Leu)
|
rs759563092
|
|
NM_014362.4(HIBCH):c.809+1G>A
|
rs143746450
|
|
NM_014362.4(HIBCH):c.830T>A (p.Val277Glu)
|
rs1553499757
|
|
NM_014362.4(HIBCH):c.852del (p.Leu284fs)
|
rs1131692017
|
|
NM_014362.4(HIBCH):c.860A>G (p.Asp287Gly)
|
|
|
NM_014362.4(HIBCH):c.950G>A (p.Gly317Glu)
|
rs786204004
|
|
NM_014384.3(ACAD8):c.1A>G (p.Met1Val)
|
|
|
NM_014384.3(ACAD8):c.205C>T (p.Gln69Ter)
|
|
|
NM_014384.3(ACAD8):c.3G>C (p.Met1Ile)
|
|
|
NM_014384.3(ACAD8):c.473A>G (p.Tyr158Cys)
|
rs779385985
|
|
NM_014384.3(ACAD8):c.758T>G (p.Val253Gly)
|
|
|
NM_014384.3(ACAD8):c.939+1G>T
|
|
|
NM_015506.2(MMACHC):c.[271dupA];[482G>A]
|
|
|
NM_015506.3(MMACHC):c.143_146del (p.Leu48fs)
|
|
|
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.276+2T>C
|
|
|
NM_015506.3(MMACHC):c.276+2del
|
|
|
NM_015506.3(MMACHC):c.276G>A (p.Glu92=)
|
rs556977618
|
|
NM_015506.3(MMACHC):c.277-1G>A
|
|
|
NM_015506.3(MMACHC):c.277-2A>G
|
rs202000595
|
|
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.346C>A (p.Leu116Met)
|
rs2149323564
|
|
NM_015506.3(MMACHC):c.346C>G (p.Leu116Val)
|
rs2149323564
|
|
NM_015506.3(MMACHC):c.347T>C (p.Leu116Pro)
|
rs121918240
|
|
NM_015506.3(MMACHC):c.366T>A (p.His122Gln)
|
rs1643666556
|
|
NM_015506.3(MMACHC):c.366T>G (p.His122Gln)
|
rs1643666556
|
|
NM_015506.3(MMACHC):c.382TAC[2] (p.Tyr130del)
|
rs796051998
|
|
NM_015506.3(MMACHC):c.391C>T (p.Gln131Ter)
|
rs1553162857
|
|
NM_015506.3(MMACHC):c.415_416delinsTA (p.Pro139Ter)
|
rs1643667928
|
|
NM_015506.3(MMACHC):c.427C>T (p.Gln143Ter)
|
rs1553162868
|
|
NM_015506.3(MMACHC):c.435_436del (p.Ser146fs)
|
rs2149323799
|
|
NM_015506.3(MMACHC):c.439G>C (p.Gly147Arg)
|
|
|
NM_015506.3(MMACHC):c.440G>A (p.Gly147Asp)
|
rs140522266
|
|
NM_015506.3(MMACHC):c.443_459delinsCTGGGGCTGG (p.Val148fs)
|
rs2149323805
|
|
NM_015506.3(MMACHC):c.451_461del (p.His151fs)
|
|
|
NM_015506.3(MMACHC):c.452A>G (p.His151Arg)
|
|
|
NM_015506.3(MMACHC):c.463G>C (p.Gly155Arg)
|
|
|
NM_015506.3(MMACHC):c.466G>A (p.Gly156Ser)
|
rs768353633
|
|
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.471G>C (p.Trp157Cys)
|
rs1002571805
|
|
NM_015506.3(MMACHC):c.481C>G (p.Arg161Gly)
|
rs370596113
|
|
NM_015506.3(MMACHC):c.482G>T (p.Arg161Leu)
|
|
|
NM_015506.3(MMACHC):c.487del (p.Gly162_Val163insTer)
|
|
|
NM_015506.3(MMACHC):c.497dup (p.Pro167fs)
|
rs1481893137
|
|
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.51T>A (p.Cys17Ter)
|
|
|
NM_015506.3(MMACHC):c.51del (p.Pro18fs)
|
|
|
NM_015506.3(MMACHC):c.541_548del (p.Asp181fs)
|
rs1553162931
|
|
NM_015506.3(MMACHC):c.542_545dup (p.Cys182Ter)
|
|
|
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.566G>T (p.Arg189Leu)
|
|
|
NM_015506.3(MMACHC):c.574del (p.Leu192fs)
|
rs1553162943
|
|
NM_015506.3(MMACHC):c.600del (p.Trp200fs)
|
|
|
NM_015506.3(MMACHC):c.616del (p.Arg206fs)
|
rs1163462384
|
|
NM_015506.3(MMACHC):c.617G>C (p.Arg206Pro)
|
rs371753672
|
|
NM_015506.3(MMACHC):c.619dup (p.Asp207fs)
|
rs765913293
|
|
NM_015506.3(MMACHC):c.624del (p.Ala208_Val209insTer)
|
|
|
NM_015506.3(MMACHC):c.626_627del (p.Val209fs)
|
rs1356587420
|
|
NM_015506.3(MMACHC):c.675_679del (p.Pro226fs)
|
|
|
NM_015506.3(MMACHC):c.685C>T (p.Gln229Ter)
|
|
|
NM_015506.3(MMACHC):c.70del (p.Tyr24fs)
|
|
|
NM_015506.3(MMACHC):c.72C>A (p.Tyr24Ter)
|
rs755881820
|
|
NM_015506.3(MMACHC):c.792_818del (p.Ser264_Pro272del)
|
rs753855245
|
|
NM_015506.3(MMACHC):c.81+1G>C
|
|
|
NM_015506.3(MMACHC):c.81+2T>G
|
rs777251123
|
|
NM_015506.3(MMACHC):c.82-11_82-8del
|
rs751236442
|
|
NM_015506.3(MMACHC):c.82-1G>A
|
rs1255179780
|
|
NM_015506.3(MMACHC):c.89G>A (p.Trp30Ter)
|
rs1570829502
|
|
NM_015506.3(MMACHC):c.90G>A (p.Trp30Ter)
|
rs771673343
|
|
NM_015506.3(MMACHC):c.97G>T (p.Glu33Ter)
|
|
|
NM_015506.3:c.275_278del
|
|
|
NM_015702.3(MMADHC):c.10-1G>A
|
|
|
NM_015702.3(MMADHC):c.10-2A>G
|
|
|
NM_015702.3(MMADHC):c.128_129del (p.His43fs)
|
rs1162948308
|
|
NM_015702.3(MMADHC):c.154+1G>C
|
rs1385597423
|
|
NM_015702.3(MMADHC):c.155-2A>G
|
|
|
NM_015702.3(MMADHC):c.202del (p.Gln68fs)
|
|
|
NM_015702.3(MMADHC):c.372+1G>T
|
rs755561981
|
|
NM_015702.3(MMADHC):c.373-1G>A
|
rs764179800
|
|
NM_015702.3(MMADHC):c.373-2A>G
|
|
|
NM_015702.3(MMADHC):c.478+1G>C
|
|
|
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.702dup (p.Gly235fs)
|
rs1682617973
|
|
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_018368.4(LMBRD1):c.1084-1G>A
|
|
|
NM_018368.4(LMBRD1):c.1128C>A (p.Tyr376Ter)
|
|
|
NM_018368.4(LMBRD1):c.1187_1188+2del
|
|
|
NM_018368.4(LMBRD1):c.1189-1G>A
|
rs2149843526
|
|
NM_018368.4(LMBRD1):c.1338+1G>C
|
|
|
NM_018368.4(LMBRD1):c.1396_1397insTC (p.Cys466fs)
|
rs764930914
|
|
NM_018368.4(LMBRD1):c.307+2del
|
|
|
NM_018368.4(LMBRD1):c.308-1G>A
|
|
|
NM_018368.4(LMBRD1):c.399del (p.Lys133fs)
|
rs1562112648
|
|
NM_018368.4(LMBRD1):c.405+2T>C
|
|
|
NM_018368.4(LMBRD1):c.562+1G>C
|
|
|
NM_018368.4(LMBRD1):c.562+1G>T
|
|
|
NM_018368.4(LMBRD1):c.69+1G>A
|
|
|
NM_018368.4(LMBRD1):c.69+2T>G
|
|
|
NM_018368.4(LMBRD1):c.762+1G>A
|
|
|
NM_018368.4(LMBRD1):c.763-2A>C
|
|
|
NM_018368.4(LMBRD1):c.763-2A>G
|
|
|
NM_018368.4(LMBRD1):c.763-6_771del
|
|
|
NM_018368.4(LMBRD1):c.967_970del (p.Leu323fs)
|
rs771477094
|
|
NM_020166.5(MCCC1):c.1074del (p.Trp358fs)
|
rs398124350
|
|
NM_020166.5(MCCC1):c.1084-1G>C
|
rs2108479565
|
|
NM_020166.5(MCCC1):c.1114del (p.Gln372fs)
|
|
|
NM_020166.5(MCCC1):c.1115A>C (p.Gln372Pro)
|
rs755328329
|
|
NM_020166.5(MCCC1):c.1129_1130del (p.Leu377fs)
|
rs1714102462
|
|
NM_020166.5(MCCC1):c.1153A>G (p.Arg385Gly)
|
rs1553854969
|
|
NM_020166.5(MCCC1):c.1310T>C (p.Leu437Pro)
|
rs119103215
|
|
NM_020166.5(MCCC1):c.1315G>T (p.Val439Leu)
|
rs398124352
|
|
NM_020166.5(MCCC1):c.1378-1G>T
|
rs2108470990
|
|
NM_020166.5(MCCC1):c.1378-2A>G
|
|
|
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.1595-1G>C
|
rs1337201010
|
|
NM_020166.5(MCCC1):c.1595-2A>G
|
rs1235781420
|
|
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+2dup
|
|
|
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.1731+1G>A
|
|
|
NM_020166.5(MCCC1):c.1732-1G>T
|
rs763877330
|
|
NM_020166.5(MCCC1):c.1750_1756del (p.Gln584fs)
|
|
|
NM_020166.5(MCCC1):c.176A>G (p.Glu59Gly)
|
|
|
NM_020166.5(MCCC1):c.1792del (p.Tyr597_Leu598insTer)
|
rs2108441513
|
|
NM_020166.5(MCCC1):c.1864del (p.Ser622fs)
|
rs1712230544
|
|
NM_020166.5(MCCC1):c.1869+1G>A
|
|
|
NM_020166.5(MCCC1):c.1870-2A>G
|
|
|
NM_020166.5(MCCC1):c.1873G>T (p.Gly625Ter)
|
|
|
NM_020166.5(MCCC1):c.1905del (p.Lys635fs)
|
rs727504001
|
|
NM_020166.5(MCCC1):c.1908C>G (p.Tyr636Ter)
|
rs1311139055
|
|
NM_020166.5(MCCC1):c.191_192del (p.Val64fs)
|
|
|
NM_020166.5(MCCC1):c.1943_1944dup (p.Pro649fs)
|
rs2108437770
|
|
NM_020166.5(MCCC1):c.2000_2001del (p.Lys667fs)
|
|
|
NM_020166.5(MCCC1):c.2088dup (p.Val697fs)
|
rs746267545
|
|
NM_020166.5(MCCC1):c.210_211insT (p.Leu71fs)
|
|
|
NM_020166.5(MCCC1):c.273+1G>C
|
|
|
NM_020166.5(MCCC1):c.288T>A (p.Tyr96Ter)
|
|
|
NM_020166.5(MCCC1):c.2T>C (p.Met1Thr)
|
rs776254500
|
|
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.369+2T>C
|
|
|
NM_020166.5(MCCC1):c.382G>T (p.Gly128Ter)
|
rs2108528645
|
|
NM_020166.5(MCCC1):c.455C>T (p.Pro152Leu)
|
rs1182086058
|
|
NM_020166.5(MCCC1):c.534_535delinsTT (p.Glu179Ter)
|
rs2108526606
|
|
NM_020166.5(MCCC1):c.548del (p.Gly183fs)
|
|
|
NM_020166.5(MCCC1):c.570C>A (p.Cys190Ter)
|
rs537827975
|
|
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.684dup (p.Glu229fs)
|
|
|
NM_020166.5(MCCC1):c.700_701del (p.Glu234fs)
|
|
|
NM_020166.5(MCCC1):c.716_720del (p.Ser238_Phe239insTer)
|
|
|
NM_020166.5(MCCC1):c.761+1G>A
|
|
|
NM_020166.5(MCCC1):c.826T>C (p.Cys276Arg)
|
|
|
NM_020166.5(MCCC1):c.848AGA[1] (p.Lys284del)
|
rs1715495987
|
|
NM_020166.5(MCCC1):c.866C>T (p.Ala289Val)
|
|
|
NM_020166.5(MCCC1):c.873+1G>A
|
|
|
NM_020166.5(MCCC1):c.89+1G>A
|
rs771730236
|
|
NM_020166.5(MCCC1):c.89+2_89+4del
|
|
|
NM_020166.5(MCCC1):c.90-1G>A
|
|
|
NM_020166.5(MCCC1):c.90-1G>C
|
rs1718608300
|
|
NM_020166.5(MCCC1):c.955+1G>A
|
rs1340827377
|
|
NM_020166.5(MCCC1):c.955+1G>T
|
|
|
NM_020457.3(THAP11):c.240C>G (p.Phe80Leu)
|
rs188675529
|
|
NM_022132.5(MCCC2):c.1000-2A>G
|
rs2112453728
|
|
NM_022132.5(MCCC2):c.1072+1G>A
|
|
|
NM_022132.5(MCCC2):c.1073-12C>G
|
|
|
NM_022132.5(MCCC2):c.1081C>T (p.Arg361Ter)
|
rs763293192
|
|
NM_022132.5(MCCC2):c.1127T>C (p.Leu376Pro)
|
|
|
NM_022132.5(MCCC2):c.1147A>T (p.Lys383Ter)
|
|
|
NM_022132.5(MCCC2):c.1149+1G>A
|
rs2112460011
|
|
NM_022132.5(MCCC2):c.1149+1G>T
|
rs2112460011
|
|
NM_022132.5(MCCC2):c.1150-2A>G
|
|
|
NM_022132.5(MCCC2):c.1189C>G (p.Pro397Ala)
|
rs2112463755
|
|
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.1268C>A (p.Ala423Asp)
|
|
|
NM_022132.5(MCCC2):c.127C>T (p.Gln43Ter)
|
rs2112251855
|
|
NM_022132.5(MCCC2):c.129+1G>T
|
rs1744812773
|
|
NM_022132.5(MCCC2):c.130-2A>G
|
|
|
NM_022132.5(MCCC2):c.1366G>C (p.Ala456Pro)
|
|
|
NM_022132.5(MCCC2):c.1373+2T>G
|
rs2112468012
|
|
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.1441G>T (p.Val481Leu)
|
|
|
NM_022132.5(MCCC2):c.1450A>C (p.Thr484Pro)
|
rs1554138549
|
|
NM_022132.5(MCCC2):c.1488+1G>A
|
rs2112469361
|
|
NM_022132.5(MCCC2):c.1559A>G (p.Tyr520Cys)
|
|
|
NM_022132.5(MCCC2):c.1567A>G (p.Ser523Gly)
|
rs1459143051
|
|
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.1667C>A (p.Thr556Asn)
|
|
|
NM_022132.5(MCCC2):c.1667C>T (p.Thr556Ile)
|
rs1049171546
|
|
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+1G>T
|
rs1580273474
|
|
NM_022132.5(MCCC2):c.281+1del
|
|
|
NM_022132.5(MCCC2):c.281+2T>C
|
|
|
NM_022132.5(MCCC2):c.282-9_285del
|
rs2112308599
|
|
NM_022132.5(MCCC2):c.314del (p.Gly105fs)
|
|
|
NM_022132.5(MCCC2):c.351_353del (p.Gly118del)
|
rs758794885
|
|
NM_022132.5(MCCC2):c.384-2A>G
|
rs1745476784
|
|
NM_022132.5(MCCC2):c.416C>T (p.Thr139Ile)
|
|
|
NM_022132.5(MCCC2):c.437dup (p.Tyr146Ter)
|
|
|
NM_022132.5(MCCC2):c.467C>T (p.Ala156Val)
|
|
|
NM_022132.5(MCCC2):c.511+1G>A
|
rs1165990855
|
|
NM_022132.5(MCCC2):c.511+1G>T
|
|
|
NM_022132.5(MCCC2):c.511+2_511+3delinsGG
|
|
|
NM_022132.5(MCCC2):c.518C>G (p.Ser173Trp)
|
rs752866557
|
|
NM_022132.5(MCCC2):c.531C>A (p.Tyr177Ter)
|
|
|
NM_022132.5(MCCC2):c.581del (p.Thr194fs)
|
rs1190325113
|
|
NM_022132.5(MCCC2):c.586T>C (p.Tyr196His)
|
rs2112329234
|
|
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.652G>T (p.Ala218Ser)
|
|
|
NM_022132.5(MCCC2):c.659G>A (p.Gly220Glu)
|
|
|
NM_022132.5(MCCC2):c.688A>G (p.Asn230Asp)
|
rs766753795
|
|
NM_022132.5(MCCC2):c.689del (p.Asn230fs)
|
rs2112412398
|
|
NM_022132.5(MCCC2):c.68A>C (p.Tyr23Ser)
|
|
|
NM_022132.5(MCCC2):c.68A>G (p.Tyr23Cys)
|
|
|
NM_022132.5(MCCC2):c.693C>G (p.Ile231Met)
|
rs991996366
|
|
NM_022132.5(MCCC2):c.709G>C (p.Gly237Arg)
|
rs781559418
|
|
NM_022132.5(MCCC2):c.70del (p.His24fs)
|
|
|
NM_022132.5(MCCC2):c.738+2T>G
|
|
|
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.903+1G>T
|
rs2112437820
|
|
NM_022132.5(MCCC2):c.903+2T>G
|
|
|
NM_022132.5(MCCC2):c.904-2A>T
|
|
|
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.955G>A (p.Gly319Arg)
|
rs1443551700
|
|
NM_022132.5(MCCC2):c.990_996dup (p.Glu333fs)
|
|
|
NM_025136.4(OPA3):c.100dup (p.Ser34fs)
|
rs1555736803
|
|
NM_025136.4(OPA3):c.142+1G>A
|
rs1555736793
|
|
NM_025136.4(OPA3):c.142+5G>C
|
rs1250409781
|
|
NM_025136.4(OPA3):c.152G>A (p.Trp51Ter)
|
|
|
NM_025136.4(OPA3):c.1A>G (p.Met1Val)
|
rs1230629432
|
|
NM_025136.4(OPA3):c.217G>T (p.Glu73Ter)
|
|
|
NM_025136.4(OPA3):c.217dup (p.Glu73fs)
|
rs1555732963
|
|
NM_025136.4(OPA3):c.227dup (p.Ala77fs)
|
|
|
NM_025136.4(OPA3):c.254G>A (p.Gly85Asp)
|
rs1599964721
|
|
NM_025136.4(OPA3):c.287del (p.Cys96fs)
|
|
|
NM_025136.4(OPA3):c.313C>T (p.Gln105Ter)
|
|
|
NM_025136.4(OPA3):c.415C>T (p.Gln139Ter)
|
rs28937899
|
|
NM_025136.4(OPA3):c.45del (p.Ile16fs)
|
|
|
NM_025136.4(OPA3):c.539A>G (p.Ter180Trp)
|
rs1057516497
|
|
NM_025136.4(OPA3):c.61A>T (p.Lys21Ter)
|
rs1555736814
|
|
NM_025136.4(OPA3):c.97C>T (p.Arg33Ter)
|
|
|
NM_032861.4(SERAC1):c.1167_1170del
|
rs772296795
|
|
NM_032861.4(SERAC1):c.1228T>C (p.Trp410Arg)
|
|
|
NM_032861.4(SERAC1):c.1684+1G>T
|
rs2128410576
|
|
NM_032861.4(SERAC1):c.1684+2T>C
|
|
|
NM_032861.4(SERAC1):c.1822_1828+10delinsACCAACAGG
|
rs1554260851
|
|
NM_032861.4(SERAC1):c.308_311del (p.Arg103fs)
|
rs1785136807
|
|
NM_032861.4(SERAC1):c.698T>A (p.Leu233Ter)
|
rs1583589537
|
|
NM_032861.4(SERAC1):c.91+6T>C
|
rs1554265452
|
|
NM_052845.4(MMAB):c.107del (p.Gly36fs)
|
rs1555276160
|
|
NM_052845.4(MMAB):c.112C>T (p.Gln38Ter)
|
|
|
NM_052845.4(MMAB):c.134+1G>T
|
|
|
NM_052845.4(MMAB):c.134+2T>A
|
|
|
NM_052845.4(MMAB):c.197-2del
|
rs1555275604
|
|
NM_052845.4(MMAB):c.290+1G>A
|
rs1351673148
|
|
NM_052845.4(MMAB):c.2T>G (p.Met1Arg)
|
rs869320655
|
|
NM_052845.4(MMAB):c.32del (p.Gly11fs)
|
|
|
NM_052845.4(MMAB):c.349-1G>C
|
rs864309510
|
|
NM_052845.4(MMAB):c.421+1G>A
|
rs2136199734
|
|
NM_052845.4(MMAB):c.422-1G>A
|
|
|
NM_052845.4(MMAB):c.422-1G>C
|
rs2136199436
|
|
NM_052845.4(MMAB):c.454G>T (p.Glu152Ter)
|
rs557884699
|
|
NM_052845.4(MMAB):c.502dup (p.Thr168fs)
|
|
|
NM_052845.4(MMAB):c.519+1G>A
|
rs1592998207
|
|
NM_052845.4(MMAB):c.539C>A (p.Ser180Ter)
|
|
|
NM_052845.4(MMAB):c.541_554dup (p.Cys185fs)
|
|
|
NM_052845.4(MMAB):c.557G>A (p.Arg186Gln)
|
rs773059864
|
|
NM_052845.4(MMAB):c.557G>C (p.Arg186Pro)
|
|
|
NM_052845.4(MMAB):c.563_577dup (p.Val188_Ala192dup)
|
rs1555274496
|
|
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.571C>G (p.Arg191Gly)
|
|
|
NM_052845.4(MMAB):c.572G>C (p.Arg191Pro)
|
|
|
NM_052845.4(MMAB):c.573_577dup (p.Glu193fs)
|
rs1555274497
|
|
NM_052845.4(MMAB):c.574_577del (p.Ala192fs)
|
|
|
NM_052845.4(MMAB):c.577G>C (p.Glu193Gln)
|
rs749758687
|
|
NM_052845.4(MMAB):c.578_584dup (p.Val196fs)
|
rs1555274493
|
|
NM_052845.4(MMAB):c.580A>G (p.Arg194Gly)
|
rs2136198139
|
|
NM_052845.4(MMAB):c.581_582del (p.Arg194fs)
|
rs1592997663
|
|
NM_052845.4(MMAB):c.583_584+18del
|
rs1555274484
|
|
NM_052845.4(MMAB):c.63C>A (p.Cys21Ter)
|
|
|
NM_052845.4(MMAB):c.644+1G>A
|
rs1592996077
|
|
NM_052845.4(MMAB):c.660_661del (p.Phe221fs)
|
rs1383825118
|
|
NM_145261.4(DNAJC19):c.158G>A (p.Gly53Glu)
|
rs755024172
|
|
NM_145261.4(DNAJC19):c.210-2A>G
|
|
|
NM_145261.4(DNAJC19):c.280+1_280+5del
|
rs753055824
|
|
NM_145261.4(DNAJC19):c.281-2A>C
|
|
|
NM_145261.4(DNAJC19):c.4-1G>A
|
rs878852999
|
|
NM_145261.4(DNAJC19):c.4-24_15del
|
|
|
NM_145261.4(DNAJC19):c.55+1G>A
|
rs2108509746
|
|
NM_145261.4(DNAJC19):c.63del (p.Arg20_Tyr21insTer)
|
rs2108509666
|
|
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.1145del (p.His382fs)
|
|
|
NM_172250.3(MMAA):c.124C>T (p.Gln42Ter)
|
rs758345818
|
|
NM_172250.3(MMAA):c.15_16del (p.Pro6fs)
|
rs1553957862
|
|
NM_172250.3(MMAA):c.161G>A (p.Trp54Ter)
|
rs864309725
|
|
NM_172250.3(MMAA):c.188_189del (p.Arg63fs)
|
|
|
NM_172250.3(MMAA):c.1A>G (p.Met1Val)
|
rs1553957856
|
|
NM_172250.3(MMAA):c.206del (p.Thr69fs)
|
rs1553957901
|
|
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.420_422delinsTGTGATT (p.Lys140fs)
|
|
|
NM_172250.3(MMAA):c.439+1G>A
|
rs1553957938
|
|
NM_172250.3(MMAA):c.439+4_439+7del
|
rs1553957939
|
|
NM_172250.3(MMAA):c.440-2A>G
|
|
|
NM_172250.3(MMAA):c.490G>T (p.Gly164Ter)
|
|
|
NM_172250.3(MMAA):c.493A>T (p.Lys165Ter)
|
|
|
NM_172250.3(MMAA):c.496del (p.Met166fs)
|
|
|
NM_172250.3(MMAA):c.50T>A (p.Leu17Ter)
|
|
|
NM_172250.3(MMAA):c.523dup (p.Ser175fs)
|
|
|
NM_172250.3(MMAA):c.552T>A (p.Cys184Ter)
|
rs1727814966
|
|
NM_172250.3(MMAA):c.562+1G>A
|
rs869320656
|
|
NM_172250.3(MMAA):c.562+1G>T
|
rs869320656
|
|
NM_172250.3(MMAA):c.562+2T>C
|
|
|
NM_172250.3(MMAA):c.562G>C (p.Gly188Arg)
|
rs864309729
|
|
NM_172250.3(MMAA):c.594dup (p.Glu199Ter)
|
rs1553958395
|
|
NM_172250.3(MMAA):c.601_602del (p.Ser201fs)
|
|
|
NM_172250.3(MMAA):c.601del (p.Ser201fs)
|
|
|
NM_172250.3(MMAA):c.636delinsAGG (p.Thr213fs)
|
|
|
NM_172250.3(MMAA):c.650T>A (p.Leu217Ter)
|
rs140356252
|
|
NM_172250.3(MMAA):c.659T>C (p.Val220Ala)
|
rs941689476
|
|
NM_172250.3(MMAA):c.664A>G (p.Arg222Gly)
|
rs920825350
|
|
NM_172250.3(MMAA):c.708T>A (p.Tyr236Ter)
|
|
|
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.785T>A (p.Leu262Ter)
|
|
|
NM_172250.3(MMAA):c.812_813dup (p.Leu272fs)
|
rs1553958720
|
|
NM_172250.3(MMAA):c.820-1G>C
|
rs1553959017
|
|
NM_172250.3(MMAA):c.820-2A>G
|
|
|
NM_172250.3(MMAA):c.832G>A (p.Gly278Ser)
|
|
|
NM_172250.3(MMAA):c.936dup (p.Leu313fs)
|
|
|
NM_172250.3(MMAA):c.952C>T (p.Gln318Ter)
|
rs751717131
|
|
NM_172250.3(MMAA):c.963_969+4del
|
|
|