NM_018127.7(ELAC2):c.2342G>A (p.Arg781His)
|
rs119484086
|
0.00064
|
NM_012123.4(MTO1):c.1430G>A (p.Arg477His)
|
rs201544686
|
0.00028
|
NM_006567.5(FARS2):c.407C>A (p.Pro136His)
|
rs199863563
|
0.00022
|
NM_152269.5(MTRFR):c.210del (p.Gly72fs)
|
rs576462794
|
0.00016
|
NM_006567.5(FARS2):c.1082C>T (p.Pro361Leu)
|
rs751459058
|
0.00011
|
NM_006567.5(FARS2):c.792del (p.Asp265fs)
|
rs761097220
|
0.00011
|
NM_012123.4(MTO1):c.1324C>T (p.Arg442Ter)
|
rs200583827
|
0.00007
|
NM_006567.5(FARS2):c.467C>T (p.Thr156Met)
|
rs146988468
|
0.00006
|
NM_018127.7(ELAC2):c.2009del (p.Cys670fs)
|
rs761385155
|
0.00006
|
NM_152269.5(MTRFR):c.96_99dup (p.Pro34fs)
|
rs863223926
|
0.00006
|
NM_006567.5(FARS2):c.919C>T (p.Arg307Ter)
|
rs148620369
|
0.00005
|
NM_012123.4(MTO1):c.1201C>T (p.Arg401Ter)
|
rs775623164
|
0.00004
|
NM_012123.4(MTO1):c.1450C>T (p.Arg484Trp)
|
rs748152539
|
0.00004
|
NM_012123.4(MTO1):c.1282G>A (p.Ala428Thr)
|
rs143747297
|
0.00003
|
NM_012123.4(MTO1):c.1462C>T (p.Arg488Ter)
|
rs771939280
|
0.00002
|
NM_006567.5(FARS2):c.1156C>T (p.Arg386Ter)
|
rs770597592
|
0.00001
|
NM_006567.5(FARS2):c.1255C>T (p.Arg419Cys)
|
rs775690041
|
0.00001
|
NM_006567.5(FARS2):c.1256G>A (p.Arg419His)
|
rs202183509
|
0.00001
|
NM_006567.5(FARS2):c.261G>A (p.Trp87Ter)
|
rs1229314240
|
0.00001
|
NM_006567.5(FARS2):c.646C>T (p.Gln216Ter)
|
rs1057523346
|
0.00001
|
NM_006567.5(FARS2):c.812del (p.Thr271fs)
|
rs1429774361
|
0.00001
|
NM_012123.4(MTO1):c.1405C>T (p.Arg469Ter)
|
rs764848745
|
0.00001
|
NM_012123.4(MTO1):c.1498C>T (p.Arg500Ter)
|
rs372842922
|
0.00001
|
NM_018127.7(ELAC2):c.1275C>A (p.Tyr425Ter)
|
rs1308121771
|
0.00001
|
NM_018127.7(ELAC2):c.1435C>T (p.Gln479Ter)
|
rs138114191
|
0.00001
|
NM_018127.7(ELAC2):c.1489C>T (p.Arg497Ter)
|
rs550032922
|
0.00001
|
NM_018127.7(ELAC2):c.1888C>T (p.Arg630Ter)
|
rs781680309
|
0.00001
|
NM_018127.7(ELAC2):c.245+2T>A
|
rs748684065
|
0.00001
|
NM_018127.7(ELAC2):c.88G>T (p.Glu30Ter)
|
rs767879725
|
0.00001
|
NM_152269.5(MTRFR):c.394C>T (p.Arg132Ter)
|
rs397514539
|
0.00001
|
NC_000006.11:g.(?_5109657)_(6320826_?)del
|
|
|
NC_000006.11:g.(?_5216831)_(5431425_?)del
|
|
|
NC_000006.11:g.(?_5260861)_(5369435_?)del
|
|
|
NC_000006.11:g.(?_5339261)_(5404834_?)del
|
|
|
NC_000006.11:g.(?_5368784)_(5545593_?)del
|
|
|
NC_000006.11:g.(?_5368804)_(5369425_?)del
|
|
|
NC_000006.11:g.(?_5368804)_(5369435_?)del
|
|
|
NC_000006.11:g.(?_5368804)_(5404954_?)del
|
|
|
NC_000006.11:g.(?_5404755)_(5431425_?)del
|
|
|
NC_000006.11:g.(?_5404755)_(5545593_?)del
|
|
|
NC_000006.11:g.(?_5431254)_(5653711_?)del
|
|
|
NC_000006.11:g.(?_5545403)_(5545583_?)del
|
|
|
NC_000006.11:g.(?_74171578)_(74171814_?)del
|
|
|
NC_000006.11:g.(?_74171578)_(74192363_?)del
|
|
|
NC_000006.11:g.(?_74175912)_(74183397_?)del
|
|
|
NC_000006.11:g.(?_74183068)_(74183397_?)del
|
|
|
NC_000006.11:g.(?_74189435)_(74192363_?)del
|
|
|
NC_000006.12:g.(?_5368551)_(5369202_?)del
|
|
|
NC_000006.12:g.(?_5368551)_(5431192_?)del
|
|
|
NC_000006.12:g.(?_5404522)_(5404721_?)del
|
|
|
NC_000006.12:g.(?_5545160)_(5545360_?)del
|
|
|
NC_000012.11:g.(?_123741340)_(123741578_?)del
|
|
|
NC_000017.10:g.(?_12896135)_(12921264_?)del
|
|
|
NC_000017.10:g.(?_12920159)_(12920458_?)del
|
|
|
NM_006567.5(FARS2):c.1109_1111delinsAACCAGAATGAA (p.Trp370_Leu371delinsTer)
|
rs1554116357
|
|
NM_006567.5(FARS2):c.1110G>A (p.Trp370Ter)
|
|
|
NM_006567.5(FARS2):c.11C>G (p.Ser4Ter)
|
|
|
NM_006567.5(FARS2):c.1218-73_1289delinsC
|
|
|
NM_006567.5(FARS2):c.178C>T (p.Gln60Ter)
|
|
|
NM_006567.5(FARS2):c.298C>T (p.Gln100Ter)
|
rs1428625375
|
|
NM_006567.5(FARS2):c.3G>T (p.Met1Ile)
|
rs2127642660
|
|
NM_006567.5(FARS2):c.425del (p.Asp142fs)
|
rs2127643855
|
|
NM_006567.5(FARS2):c.431A>G (p.Tyr144Cys)
|
rs397514610
|
|
NM_006567.5(FARS2):c.497dup (p.Leu168fs)
|
|
|
NM_006567.5(FARS2):c.694del (p.Thr232fs)
|
rs2127718679
|
|
NM_006567.5(FARS2):c.801C>G (p.Tyr267Ter)
|
rs761709212
|
|
NM_006567.5(FARS2):c.877del (p.Gly292_Val293insTer)
|
rs2127767975
|
|
NM_006567.5(FARS2):c.886C>T (p.Gln296Ter)
|
rs1414534588
|
|
NM_006567.5(FARS2):c.925G>A (p.Gly309Ser)
|
rs746746116
|
|
NM_006567.5(FARS2):c.929G>A (p.Trp310Ter)
|
|
|
NM_006567.5(FARS2):c.946_950del (p.Leu316fs)
|
rs1322974029
|
|
NM_006567.5(FARS2):c.999G>A (p.Trp333Ter)
|
rs753467517
|
|
NM_012123.4(MTO1):c.1136del (p.Gly379fs)
|
|
|
NM_012123.4(MTO1):c.1246del (p.Glu416fs)
|
rs1250411982
|
|
NM_012123.4(MTO1):c.137dup (p.His46fs)
|
|
|
NM_012123.4(MTO1):c.1421dup (p.Leu474fs)
|
|
|
NM_012123.4(MTO1):c.1451G>A (p.Arg484Gln)
|
|
|
NM_012123.4(MTO1):c.1495C>T (p.Gln499Ter)
|
|
|
NM_012123.4(MTO1):c.1533_1536del (p.Glu512fs)
|
|
|
NM_012123.4(MTO1):c.1643dup (p.Asp549fs)
|
|
|
NM_012123.4(MTO1):c.1692del (p.Val565fs)
|
rs2150042284
|
|
NM_012123.4(MTO1):c.1750dup (p.Ile584fs)
|
rs2150042308
|
|
NM_012123.4(MTO1):c.1789C>T (p.Gln597Ter)
|
rs2150044955
|
|
NM_012123.4(MTO1):c.1822del (p.Leu608fs)
|
rs1561954433
|
|
NM_012123.4(MTO1):c.1848T>G (p.Tyr616Ter)
|
rs2150044996
|
|
NM_012123.4(MTO1):c.239_242del (p.Ser80fs)
|
|
|
NM_012123.4(MTO1):c.277del (p.Glu92_Val93insTer)
|
|
|
NM_012123.4(MTO1):c.402_403del (p.Tyr134_Lys135delinsTer)
|
rs769532203
|
|
NM_012123.4(MTO1):c.413del (p.Met138fs)
|
|
|
NM_012123.4(MTO1):c.429_444del (p.Asn144fs)
|
rs2150027394
|
|
NM_012123.4(MTO1):c.525_526del (p.Val176fs)
|
|
|
NM_012123.4(MTO1):c.648del (p.Gln216fs)
|
|
|
NM_012123.4(MTO1):c.667C>T (p.Gln223Ter)
|
rs2150031480
|
|
NM_012123.4(MTO1):c.724del (p.Arg242fs)
|
|
|
NM_012123.4(MTO1):c.734_735del (p.Lys245fs)
|
rs755954353
|
|
NM_012123.4(MTO1):c.937C>T (p.Arg313Ter)
|
|
|
NM_012123.4(MTO1):c.961A>T (p.Lys321Ter)
|
rs148667065
|
|
NM_012123.4(MTO1):c.967_968del (p.Leu323fs)
|
rs2150035785
|
|
NM_012123.4(MTO1):c.970del (p.Arg324fs)
|
|
|
NM_018127.7(ELAC2):c.1062C>G (p.Tyr354Ter)
|
|
|
NM_018127.7(ELAC2):c.1066C>T (p.Gln356Ter)
|
|
|
NM_018127.7(ELAC2):c.1214del (p.Cys405fs)
|
|
|
NM_018127.7(ELAC2):c.1245del (p.Met416fs)
|
|
|
NM_018127.7(ELAC2):c.1535dup (p.Leu513fs)
|
|
|
NM_018127.7(ELAC2):c.1567C>T (p.Gln523Ter)
|
rs2040486497
|
|
NM_018127.7(ELAC2):c.1706del (p.Leu569fs)
|
rs2143562536
|
|
NM_018127.7(ELAC2):c.1727dup (p.Leu576fs)
|
|
|
NM_018127.7(ELAC2):c.1864G>T (p.Glu622Ter)
|
|
|
NM_018127.7(ELAC2):c.2144del (p.Met715fs)
|
|
|
NM_018127.7(ELAC2):c.2179C>T (p.Gln727Ter)
|
rs946948334
|
|
NM_018127.7(ELAC2):c.273del (p.Gln92fs)
|
rs748788377
|
|
NM_018127.7(ELAC2):c.286C>T (p.Gln96Ter)
|
|
|
NM_018127.7(ELAC2):c.297-2_297-1delinsT
|
rs1060502161
|
|
NM_018127.7(ELAC2):c.299dup (p.Leu100fs)
|
|
|
NM_018127.7(ELAC2):c.383T>A (p.Leu128Ter)
|
|
|
NM_018127.7(ELAC2):c.460T>C (p.Phe154Leu)
|
rs397515465
|
|
NM_018127.7(ELAC2):c.520G>T (p.Glu174Ter)
|
rs374954001
|
|
NM_018127.7(ELAC2):c.766del (p.Val256fs)
|
rs2041085400
|
|
NM_018127.7(ELAC2):c.863_866del (p.Gly288fs)
|
|
|
NM_018127.7(ELAC2):c.865_866AG[2] (p.Glu290fs)
|
|
|
NM_152269.5(MTRFR):c.135_142dup (p.Asp48fs)
|
|
|
NM_152269.5(MTRFR):c.193_194insCGAAAGCAGTTTG (p.Val65fs)
|
|
|
NM_152269.5(MTRFR):c.307del (p.Gln103fs)
|
rs2048187051
|
|
NM_152269.5(MTRFR):c.33dup (p.Pro12fs)
|
rs2048143498
|
|
NM_152269.5(MTRFR):c.409A>T (p.Lys137Ter)
|
rs2138800520
|
|