NM_022132.5(MCCC2):c.1433C>G (p.Ala478Gly)
|
rs35068278
|
0.00082
|
NM_014384.3(ACAD8):c.1129G>A (p.Gly377Ser)
|
rs121908419
|
0.00016
|
NM_015506.3(MMACHC):c.364C>A (p.His122Asn)
|
rs372918203
|
0.00012
|
NM_020166.5(MCCC1):c.1302T>G (p.Ile434Met)
|
rs376289130
|
0.00011
|
NM_018368.4(LMBRD1):c.1338+2T>C
|
rs147270670
|
0.00007
|
NM_052845.4(MMAB):c.521C>T (p.Ser174Leu)
|
rs140881518
|
0.00007
|
NM_014384.3(ACAD8):c.400G>T (p.Asp134Tyr)
|
rs367857040
|
0.00006
|
NM_000532.5(PCCB):c.1127G>A (p.Arg376His)
|
rs142982097
|
0.00005
|
NM_001370658.1(BTD):c.383G>A (p.Arg128His)
|
rs367902696
|
0.00005
|
NM_001609.4(ACADSB):c.1128+1G>A
|
rs1564754571
|
0.00005
|
NM_000282.4(PCCA):c.782A>G (p.Glu261Gly)
|
rs1169861687
|
0.00004
|
NM_000532.5(PCCB):c.1514T>C (p.Ile505Thr)
|
rs1353542774
|
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_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_052845.4(MMAB):c.656A>G (p.Tyr219Cys)
|
rs765547005
|
0.00004
|
NM_000019.4(ACAT1):c.1229C>T (p.Ala410Val)
|
rs767412638
|
0.00003
|
NM_000282.4(PCCA):c.802C>T (p.Arg268Cys)
|
rs774738181
|
0.00003
|
NM_002225.5(IVD):c.1183C>G (p.Arg395Gly)
|
rs398123681
|
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_000191.3(HMGCL):c.493C>T (p.Arg165Trp)
|
rs764039230
|
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_001243279.3(ACSF3):c.978-1G>A
|
rs756599931
|
0.00002
|
NM_001352514.2(HLCS):c.1808A>G (p.Tyr603Cys)
|
rs781603756
|
0.00002
|
NM_001352514.2(HLCS):c.2152G>A (p.Asp718Asn)
|
rs119103228
|
0.00002
|
NM_001370658.1(BTD):c.1406A>C (p.Asn469Thr)
|
rs104893692
|
0.00002
|
NM_002225.5(IVD):c.596G>T (p.Gly199Val)
|
rs121434285
|
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_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_022132.5(MCCC2):c.129+3A>G
|
rs1352606118
|
0.00002
|
NM_022132.5(MCCC2):c.1549G>A (p.Gly517Arg)
|
rs979584886
|
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.1167G>A (p.Met389Ile)
|
rs377295639
|
0.00001
|
NM_000019.4(ACAT1):c.120+1G>C
|
rs779908220
|
0.00001
|
NM_000019.4(ACAT1):c.901G>C (p.Ala301Pro)
|
rs1420321267
|
0.00001
|
NM_000191.3(HMGCL):c.144+1G>A
|
rs1638698732
|
0.00001
|
NM_000282.4(PCCA):c.1593_1595del (p.Leu532del)
|
rs937519016
|
0.00001
|
NM_000282.4(PCCA):c.183+1G>A
|
rs757540625
|
0.00001
|
NM_000532.5(PCCB):c.1535G>A (p.Arg512His)
|
rs764697873
|
0.00001
|
NM_000532.5(PCCB):c.177C>G (p.His59Gln)
|
rs757134877
|
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.734G>A (p.Gly245Asp)
|
rs778242891
|
0.00001
|
NM_001243279.3(ACSF3):c.1502-2A>G
|
rs1188774860
|
0.00001
|
NM_001243279.3(ACSF3):c.666+1G>A
|
rs1336382616
|
0.00001
|
NM_001352514.2(HLCS):c.2527C>T (p.Gln843Ter)
|
rs1466111134
|
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.1246G>A (p.Glu416Lys)
|
rs749460715
|
0.00001
|
NM_001370658.1(BTD):c.249+1G>T
|
rs373249212
|
0.00001
|
NM_001370658.1(BTD):c.265G>C (p.Val89Leu)
|
rs372416959
|
0.00001
|
NM_001370658.1(BTD):c.385T>C (p.Phe129Leu)
|
rs397514359
|
0.00001
|
NM_001370658.1(BTD):c.704T>C (p.Ile235Thr)
|
rs397514384
|
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.286+2T>C
|
rs748026507
|
0.00001
|
NM_002225.5(IVD):c.784+1G>A
|
rs763471771
|
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.439G>A (p.Gly147Ser)
|
rs1553162901
|
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.1330C>T (p.Arg444Cys)
|
rs375996272
|
0.00001
|
NM_020166.5(MCCC1):c.1681+2T>C
|
rs1333994006
|
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.89+1G>C
|
rs771730236
|
0.00001
|
NM_022132.5(MCCC2):c.1054G>A (p.Gly352Arg)
|
rs765438239
|
0.00001
|
NM_022132.5(MCCC2):c.1342G>A (p.Gly448Arg)
|
rs766045910
|
0.00001
|
NM_022132.5(MCCC2):c.1430A>G (p.Gln477Arg)
|
rs769558016
|
0.00001
|
NM_022132.5(MCCC2):c.281+5G>A
|
rs944539388
|
0.00001
|
NM_022132.5(MCCC2):c.383+2del
|
rs1745349463
|
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_172250.3(MMAA):c.1084C>T (p.Gln362Ter)
|
rs1560802980
|
0.00001
|
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.(?_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_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_000021.8:g.(?_38126547)_(38139606_?)del
|
|
|
NM_000019.4(ACAT1):c.1005+1G>A
|
rs2134780623
|
|
NM_000019.4(ACAT1):c.1032AGA[1] (p.Glu345del)
|
rs387906282
|
|
NM_000019.4(ACAT1):c.1159A>G (p.Ile387Val)
|
|
|
NM_000019.4(ACAT1):c.1167G>T (p.Met389Ile)
|
rs377295639
|
|
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.1253G>A (p.Gly418Asp)
|
rs886042080
|
|
NM_000019.4(ACAT1):c.163_167delinsAA (p.Phe55_Leu56delinsLys)
|
rs1591361995
|
|
NM_000019.4(ACAT1):c.218A>C (p.Gln73Pro)
|
rs779758622
|
|
NM_000019.4(ACAT1):c.238+2T>A
|
rs2135334862
|
|
NM_000019.4(ACAT1):c.334+2T>A
|
|
|
NM_000019.4(ACAT1):c.335-2A>G
|
|
|
NM_000019.4(ACAT1):c.579+2T>A
|
rs112950994
|
|
NM_000019.4(ACAT1):c.655T>C (p.Tyr219His)
|
rs1437567292
|
|
NM_000019.4(ACAT1):c.73-1G>A
|
|
|
NM_000019.4(ACAT1):c.730+2T>C
|
rs398123096
|
|
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.227C>G (p.Pro76Arg)
|
rs878853654
|
|
NM_000116.5(TAFAZZIN):c.236_238+5del
|
rs2068331233
|
|
NM_000116.5(TAFAZZIN):c.238+2_238+9del
|
rs1603376938
|
|
NM_000116.5(TAFAZZIN):c.528_541+7del
|
rs2068570435
|
|
NM_000116.5(TAFAZZIN):c.542-2A>G
|
rs2068574381
|
|
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.700-1del
|
|
|
NM_000116.5(TAFAZZIN):c.777+1G>A
|
rs2068606932
|
|
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.252+1G>A
|
rs775218067
|
|
NM_000191.3(HMGCL):c.252+1G>C
|
|
|
NM_000191.3(HMGCL):c.348+1G>A
|
rs1322650779
|
|
NM_000191.3(HMGCL):c.48_60+289del
|
|
|
NM_000191.3(HMGCL):c.497+1G>A
|
|
|
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.60+1G>C
|
|
|
NM_000191.3(HMGCL):c.61-1G>C
|
rs1638701269
|
|
NM_000191.3(HMGCL):c.750+2T>C
|
|
|
NM_000282.4(PCCA):c.106-1G>A
|
rs769819121
|
|
NM_000282.4(PCCA):c.1065+1G>A
|
|
|
NM_000282.4(PCCA):c.1065+1G>C
|
rs2063433750
|
|
NM_000282.4(PCCA):c.1117A>G (p.Met373Val)
|
|
|
NM_000282.4(PCCA):c.1196G>T (p.Arg399Leu)
|
rs1301904623
|
|
NM_000282.4(PCCA):c.1209+2T>G
|
|
|
NM_000282.4(PCCA):c.1210-1G>A
|
|
|
NM_000282.4(PCCA):c.1267C>T (p.Pro423Ser)
|
|
|
NM_000282.4(PCCA):c.1285-2A>G
|
|
|
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.1747-1G>C
|
rs879253803
|
|
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.1891G>C (p.Gly631Arg)
|
rs796052018
|
|
NM_000282.4(PCCA):c.1900-1G>A
|
rs2152998142
|
|
NM_000282.4(PCCA):c.2040+2T>G
|
|
|
NM_000282.4(PCCA):c.2041-1G>T
|
rs1367867218
|
|
NM_000282.4(PCCA):c.232-2A>G
|
rs747968405
|
|
NM_000282.4(PCCA):c.232-2A>T
|
rs747968405
|
|
NM_000282.4(PCCA):c.300+1G>A
|
|
|
NM_000282.4(PCCA):c.300+2T>G
|
|
|
NM_000282.4(PCCA):c.414+1G>T
|
rs2152383049
|
|
NM_000282.4(PCCA):c.449_468+443del
|
rs2152387124
|
|
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.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.659C>A (p.Ala220Asp)
|
rs1555396108
|
|
NM_000282.4(PCCA):c.716+1G>C
|
|
|
NM_000282.4(PCCA):c.717-2A>G
|
rs2062611307
|
|
NM_000282.4(PCCA):c.819+1G>A
|
|
|
NM_000282.4(PCCA):c.820-1G>A
|
rs2063103516
|
|
NM_000282.4(PCCA):c.914+1G>A
|
|
|
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.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.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.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.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.1395_1398+8del
|
|
|
NM_000532.5(PCCB):c.1398+2del
|
rs2108239135
|
|
NM_000532.5(PCCB):c.155_183+17del
|
rs1941483558
|
|
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.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.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.484G>A (p.Gly162Arg)
|
|
|
NM_000532.5(PCCB):c.493C>G (p.Arg165Gly)
|
rs879253815
|
|
NM_000532.5(PCCB):c.543+1G>A
|
rs2108146835
|
|
NM_000532.5(PCCB):c.543+1G>C
|
|
|
NM_000532.5(PCCB):c.611C>T (p.Ala204Val)
|
rs760499581
|
|
NM_000532.5(PCCB):c.614T>G (p.Val205Gly)
|
|
|
NM_000532.5(PCCB):c.632C>G (p.Thr211Arg)
|
rs2108182082
|
|
NM_000532.5(PCCB):c.682C>G (p.Pro228Ala)
|
rs1052979420
|
|
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.77_183+30delinsCC
|
|
|
NM_000532.5(PCCB):c.791A>G (p.Asp264Gly)
|
rs1560017781
|
|
NM_000532.5(PCCB):c.835C>T (p.Pro279Ser)
|
|
|
NM_000532.5(PCCB):c.836C>G (p.Pro279Arg)
|
rs780837200
|
|
NM_001243279.3(ACSF3):c.1075G>C (p.Glu359Gln)
|
rs150487794
|
|
NM_001243279.3(ACSF3):c.1126+1G>A
|
rs916461556
|
|
NM_001243279.3(ACSF3):c.1127-2A>T
|
|
|
NM_001243279.3(ACSF3):c.1231_1239+9del
|
|
|
NM_001243279.3(ACSF3):c.1240-1G>C
|
|
|
NM_001243279.3(ACSF3):c.1366+1G>A
|
|
|
NM_001243279.3(ACSF3):c.1367-2_1367-1del
|
|
|
NM_001243279.3(ACSF3):c.1407_1408del (p.Gly470fs)
|
rs1912702795
|
|
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.1629delinsAC (p.Tyr544fs)
|
rs1914445437
|
|
NM_001243279.3(ACSF3):c.1673G>C (p.Arg558Pro)
|
rs140328142
|
|
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.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.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.775+1G>A
|
|
|
NM_001258392.3(CLPB):c.873+1G>A
|
rs974377052
|
|
NM_001352514.2(HLCS):c.1151T>G (p.Leu384Arg)
|
rs119103227
|
|
NM_001352514.2(HLCS):c.1437+1G>A
|
|
|
NM_001352514.2(HLCS):c.1439T>A (p.Val480Glu)
|
rs1198548955
|
|
NM_001352514.2(HLCS):c.1621-1G>C
|
rs1164174059
|
|
NM_001352514.2(HLCS):c.1621-2A>T
|
|
|
NM_001352514.2(HLCS):c.1892+1G>A
|
|
|
NM_001352514.2(HLCS):c.1960+1G>A
|
rs2090068896
|
|
NM_001352514.2(HLCS):c.2114_2121+5del
|
|
|
NM_001352514.2(HLCS):c.2237-2A>G
|
|
|
NM_001352514.2(HLCS):c.2237-56_2255del
|
rs2145732111
|
|
NM_001352514.2(HLCS):c.494-1G>A
|
|
|
NM_001352514.2(HLCS):c.494-2A>T
|
|
|
NM_001370658.1(BTD):c.1252T>C (p.Tyr418His)
|
|
|
NM_001370658.1(BTD):c.1253A>G (p.Tyr418Cys)
|
rs397514415
|
|
NM_001370658.1(BTD):c.125T>C (p.Val42Ala)
|
|
|
NM_001370658.1(BTD):c.1271A>G (p.Asp424Gly)
|
rs2065662435
|
|
NM_001370658.1(BTD):c.1300T>G (p.Tyr434Asp)
|
|
|
NM_001370658.1(BTD):c.1309G>T (p.Val437Leu)
|
rs146600671
|
|
NM_001370658.1(BTD):c.1415C>T (p.Thr472Ile)
|
rs796051941
|
|
NM_001370658.1(BTD):c.1550G>A (p.Gly517Glu)
|
rs397514428
|
|
NM_001370658.1(BTD):c.229G>A (p.Val77Met)
|
|
|
NM_001370658.1(BTD):c.238G>A (p.Ala80Thr)
|
rs397514350
|
|
NM_001370658.1(BTD):c.253G>A (p.Val85Ile)
|
|
|
NM_001370658.1(BTD):c.274G>C (p.Glu92Gln)
|
rs397514352
|
|
NM_001370658.1(BTD):c.364C>T (p.Pro122Ser)
|
|
|
NM_001370658.1(BTD):c.419G>A (p.Cys140Tyr)
|
|
|
NM_001370658.1(BTD):c.419G>C (p.Cys140Ser)
|
|
|
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.524A>G (p.Asn175Ser)
|
rs397514371
|
|
NM_001370658.1(BTD):c.59T>C (p.Leu20Pro)
|
|
|
NM_001370658.1(BTD):c.640A>G (p.Thr214Ala)
|
|
|
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.710T>A (p.Val237Asp)
|
rs1190721481
|
|
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.875G>T (p.Gly292Val)
|
|
|
NM_001370658.1(BTD):c.881A>T (p.His294Leu)
|
|
|
NM_001609.4(ACADSB):c.1128+1_1128+3del
|
rs1228768873
|
|
NM_001609.4(ACADSB):c.1228+1G>A
|
rs943046481
|
|
NM_001609.4(ACADSB):c.202+1G>C
|
|
|
NM_001609.4(ACADSB):c.901-2A>G
|
|
|
NM_001698.3(AUH):c.584A>C (p.Asp195Ala)
|
rs1827482942
|
|
NM_001698.3(AUH):c.599-2A>G
|
rs1587799880
|
|
NM_002225.5(IVD):c.1030G>A (p.Ala344Thr)
|
|
|
NM_002225.5(IVD):c.144+1G>A
|
rs928991928
|
|
NM_002225.5(IVD):c.145-2A>T
|
|
|
NM_002225.5(IVD):c.149G>T (p.Arg50Leu)
|
|
|
NM_002225.5(IVD):c.287-2A>C
|
rs781340220
|
|
NM_002225.5(IVD):c.359G>A (p.Gly120Glu)
|
|
|
NM_002225.5(IVD):c.457-1G>A
|
|
|
NM_002225.5(IVD):c.457-2A>T
|
rs771914739
|
|
NM_002225.5(IVD):c.457C>G (p.Leu153Val)
|
rs763665120
|
|
NM_002225.5(IVD):c.467G>C (p.Gly156Ala)
|
rs1221254988
|
|
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.785-2A>T
|
|
|
NM_002225.5(IVD):c.832A>G (p.Ser278Gly)
|
|
|
NM_002225.5(IVD):c.848A>G (p.Glu283Gly)
|
rs1314850102
|
|
NM_002225.5(IVD):c.878+1G>A
|
rs745629936
|
|
NM_002225.5(IVD):c.961-2A>T
|
rs1057517056
|
|
NM_002225.5(IVD):c.967C>G (p.Gln323Glu)
|
rs1891639284
|
|
NM_002225.5(IVD):c.977T>C (p.Met326Thr)
|
rs1891640609
|
|
NM_005050.4(ABCD4):c.1457-1G>C
|
|
|
NM_014362.4(HIBCH):c.385+2T>A
|
rs2105985080
|
|
NM_014362.4(HIBCH):c.439-2A>G
|
rs1180861300
|
|
NM_014362.4(HIBCH):c.488G>T (p.Cys163Phe)
|
rs74832989
|
|
NM_014362.4(HIBCH):c.664-2A>G
|
|
|
NM_014362.4(HIBCH):c.809+1G>A
|
rs143746450
|
|
NM_014384.3(ACAD8):c.1A>G (p.Met1Val)
|
|
|
NM_014384.3(ACAD8):c.3G>C (p.Met1Ile)
|
|
|
NM_014384.3(ACAD8):c.473A>G (p.Tyr158Cys)
|
rs779385985
|
|
NM_014384.3(ACAD8):c.939+1G>T
|
|
|
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.346C>A (p.Leu116Met)
|
rs2149323564
|
|
NM_015506.3(MMACHC):c.346C>G (p.Leu116Val)
|
rs2149323564
|
|
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.439G>C (p.Gly147Arg)
|
|
|
NM_015506.3(MMACHC):c.463G>C (p.Gly155Arg)
|
|
|
NM_015506.3(MMACHC):c.466G>A (p.Gly156Ser)
|
rs768353633
|
|
NM_015506.3(MMACHC):c.482G>T (p.Arg161Leu)
|
|
|
NM_015506.3(MMACHC):c.566G>T (p.Arg189Leu)
|
|
|
NM_015506.3(MMACHC):c.82-11_82-8del
|
rs751236442
|
|
NM_015702.3(MMADHC):c.10-1G>A
|
|
|
NM_015702.3(MMADHC):c.10-2A>G
|
|
|
NM_015702.3(MMADHC):c.154+1G>C
|
rs1385597423
|
|
NM_015702.3(MMADHC):c.155-2A>G
|
|
|
NM_015702.3(MMADHC):c.373-1G>A
|
rs764179800
|
|
NM_015702.3(MMADHC):c.478+1G>C
|
|
|
NM_015702.3(MMADHC):c.9+1G>A
|
|
|
NM_018368.4(LMBRD1):c.1084-1G>A
|
|
|
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.307+2del
|
|
|
NM_018368.4(LMBRD1):c.308-1G>A
|
|
|
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_020166.5(MCCC1):c.1084-1G>C
|
rs2108479565
|
|
NM_020166.5(MCCC1):c.1115A>C (p.Gln372Pro)
|
rs755328329
|
|
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.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.1731+1G>A
|
|
|
NM_020166.5(MCCC1):c.1732-1G>T
|
rs763877330
|
|
NM_020166.5(MCCC1):c.176A>G (p.Glu59Gly)
|
|
|
NM_020166.5(MCCC1):c.1869+1G>A
|
|
|
NM_020166.5(MCCC1):c.1870-2A>G
|
|
|
NM_020166.5(MCCC1):c.2088dup (p.Val697fs)
|
rs746267545
|
|
NM_020166.5(MCCC1):c.273+1G>C
|
|
|
NM_020166.5(MCCC1):c.2T>C (p.Met1Thr)
|
rs776254500
|
|
NM_020166.5(MCCC1):c.369+2T>C
|
|
|
NM_020166.5(MCCC1):c.455C>T (p.Pro152Leu)
|
rs1182086058
|
|
NM_020166.5(MCCC1):c.640-1G>A
|
rs727504005
|
|
NM_020166.5(MCCC1):c.761+1G>A
|
|
|
NM_020166.5(MCCC1):c.848AGA[1] (p.Lys284del)
|
rs1715495987
|
|
NM_020166.5(MCCC1):c.873+1G>A
|
|
|
NM_020166.5(MCCC1):c.89+1G>A
|
rs771730236
|
|
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_022132.5(MCCC2):c.1000-2A>G
|
rs2112453728
|
|
NM_022132.5(MCCC2):c.1072+1G>A
|
|
|
NM_022132.5(MCCC2):c.1127T>C (p.Leu376Pro)
|
|
|
NM_022132.5(MCCC2):c.1149+1G>A
|
rs2112460011
|
|
NM_022132.5(MCCC2):c.1149+1G>T
|
rs2112460011
|
|
NM_022132.5(MCCC2):c.1189C>G (p.Pro397Ala)
|
rs2112463755
|
|
NM_022132.5(MCCC2):c.1216+2T>C
|
rs1554138265
|
|
NM_022132.5(MCCC2):c.1268C>A (p.Ala423Asp)
|
|
|
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.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.1574+1G>T
|
rs730880265
|
|
NM_022132.5(MCCC2):c.1667C>A (p.Thr556Asn)
|
|
|
NM_022132.5(MCCC2):c.1667C>T (p.Thr556Ile)
|
rs1049171546
|
|
NM_022132.5(MCCC2):c.281+1G>T
|
rs1580273474
|
|
NM_022132.5(MCCC2):c.282-9_285del
|
rs2112308599
|
|
NM_022132.5(MCCC2):c.384-2A>G
|
rs1745476784
|
|
NM_022132.5(MCCC2):c.416C>T (p.Thr139Ile)
|
|
|
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.518C>G (p.Ser173Trp)
|
rs752866557
|
|
NM_022132.5(MCCC2):c.586T>C (p.Tyr196His)
|
rs2112329234
|
|
NM_022132.5(MCCC2):c.652G>T (p.Ala218Ser)
|
|
|
NM_022132.5(MCCC2):c.659G>A (p.Gly220Glu)
|
|
|
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.738+2T>G
|
|
|
NM_022132.5(MCCC2):c.739-2A>G
|
rs2112427637
|
|
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.955G>A (p.Gly319Arg)
|
rs1443551700
|
|
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_032861.4(SERAC1):c.1684+1G>T
|
rs2128410576
|
|
NM_032861.4(SERAC1):c.1684+2T>C
|
|
|
NM_052845.4(MMAB):c.134+1G>T
|
|
|
NM_052845.4(MMAB):c.134+2T>A
|
|
|
NM_052845.4(MMAB):c.290+1G>A
|
rs1351673148
|
|
NM_052845.4(MMAB):c.2T>G (p.Met1Arg)
|
rs869320655
|
|
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.519+1G>A
|
rs1592998207
|
|
NM_052845.4(MMAB):c.557G>C (p.Arg186Pro)
|
|
|
NM_052845.4(MMAB):c.567CCG[3] (p.Arg191dup)
|
rs864309512
|
|
NM_052845.4(MMAB):c.581_582del (p.Arg194fs)
|
rs1592997663
|
|
NM_052845.4(MMAB):c.644+1G>A
|
rs1592996077
|
|
NM_145261.4(DNAJC19):c.210-2A>G
|
|
|
NM_145261.4(DNAJC19):c.280+1_280+5del
|
rs753055824
|
|
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_172250.3(MMAA):c.1145del (p.His382fs)
|
|
|
NM_172250.3(MMAA):c.439+4_439+7del
|
rs1553957939
|
|
NM_172250.3(MMAA):c.440-2A>G
|
|
|
NM_172250.3(MMAA):c.562+1G>A
|
rs869320656
|
|
NM_172250.3(MMAA):c.562+2T>C
|
|
|
NM_172250.3(MMAA):c.659T>C (p.Val220Ala)
|
rs941689476
|
|
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)
|
|
|