NM_013337.4(TIMM22):c.97G>C (p.Val33Leu)
|
rs149879547
|
0.00440
|
NM_005035.4(POLRMT):c.2608G>A (p.Asp870Asn)
|
rs139383492
|
0.00323
|
NM_014672.4(PRORP):c.1301C>A (p.Ala434Asp)
|
rs144536804
|
0.00281
|
NM_005726.6(TSFM):c.856C>T (p.Gln286Ter)
|
rs201754030
|
0.00136
|
NM_005035.4(POLRMT):c.2428C>T (p.Pro810Ser)
|
rs201364510
|
0.00119
|
NM_032380.5(GFM2):c.1728T>A (p.Asp576Glu)
|
rs140077535
|
0.00104
|
NM_023936.2(MRPS34):c.94C>T (p.Gln32Ter)
|
rs763672163
|
0.00071
|
NM_015971.4(MRPS7):c.550A>G (p.Met184Val)
|
rs115047866
|
0.00067
|
NM_018127.7(ELAC2):c.2342G>A (p.Arg781His)
|
rs119484086
|
0.00064
|
NM_139242.4(MTFMT):c.626C>T (p.Ser209Leu)
|
rs201431517
|
0.00058
|
NM_017646.6(TRIT1):c.979C>T (p.Arg327Ter)
|
rs144042123
|
0.00052
|
NM_025150.5(TARS2):c.773C>T (p.Ser258Leu)
|
rs145039072
|
0.00042
|
NM_020442.6(VARS2):c.1168G>A (p.Ala390Thr)
|
rs202201763
|
0.00039
|
NM_024537.4(CARS2):c.563C>T (p.Thr188Met)
|
rs142034206
|
0.00030
|
NM_012123.4(MTO1):c.1430G>A (p.Arg477His)
|
rs201544686
|
0.00028
|
NM_033109.5(PNPT1):c.1519G>T (p.Ala507Ser)
|
rs143712760
|
0.00026
|
NM_001083614.2(EARS2):c.328G>A (p.Gly110Ser)
|
rs201842633
|
0.00025
|
NM_020745.4(AARS2):c.1774C>T (p.Arg592Trp)
|
rs138119149
|
0.00025
|
NM_014672.4(PRORP):c.1235A>G (p.Asn412Ser)
|
rs148259590
|
0.00024
|
NM_006567.5(FARS2):c.407C>A (p.Pro136His)
|
rs199863563
|
0.00022
|
NM_001083614.2(EARS2):c.322C>T (p.Arg108Trp)
|
rs376103091
|
0.00020
|
NM_005035.4(POLRMT):c.748C>G (p.His250Asp)
|
rs137994680
|
0.00020
|
NM_152269.5(MTRFR):c.210del (p.Gly72fs)
|
rs576462794
|
0.00016
|
NM_023936.2(MRPS34):c.322-10G>A
|
rs563189672
|
0.00015
|
NM_017909.4(RMND1):c.713A>G (p.Asn238Ser)
|
rs144972972
|
0.00013
|
NM_020191.4(MRPS22):c.509G>A (p.Arg170His)
|
rs119478059
|
0.00012
|
NM_006567.5(FARS2):c.1082C>T (p.Pro361Leu)
|
rs751459058
|
0.00011
|
NM_006567.5(FARS2):c.792del (p.Asp265fs)
|
rs761097220
|
0.00011
|
NM_020442.6(VARS2):c.2467-2A>G
|
rs200075594
|
0.00011
|
NM_020442.6(VARS2):c.511C>T (p.Arg171Trp)
|
rs139515727
|
0.00011
|
NM_139242.4(MTFMT):c.994C>T (p.Arg332Ter)
|
rs200286768
|
0.00011
|
NM_001136193.2(FASTKD2):c.882-1G>A
|
rs767682048
|
0.00010
|
NM_001206427.2(ATP5MK):c.87+1G>C
|
rs146599698
|
0.00010
|
NM_017819.4(TRMT10C):c.542G>T (p.Arg181Leu)
|
rs199730889
|
0.00010
|
NM_001083614.2(EARS2):c.1547G>A (p.Arg516Gln)
|
rs201727231
|
0.00009
|
NM_032620.4(GTPBP3):c.964G>C (p.Ala322Pro)
|
rs372174278
|
0.00009
|
NM_001284401.2(TAMM41):c.256T>C (p.Ser86Pro)
|
rs199871047
|
0.00008
|
NM_012123.4(MTO1):c.1324C>T (p.Arg442Ter)
|
rs200583827
|
0.00007
|
NM_020191.4(MRPS22):c.1032_1035dup (p.Leu346fs)
|
rs772578397
|
0.00007
|
NM_005035.4(POLRMT):c.2641-1G>C
|
rs778201827
|
0.00006
|
NM_005932.4(MIPEP):c.1534C>G (p.His512Asp)
|
rs779598020
|
0.00006
|
NM_006567.5(FARS2):c.467C>T (p.Thr156Met)
|
rs146988468
|
0.00006
|
NM_018127.7(ELAC2):c.2009del (p.Cys670fs)
|
rs761385155
|
0.00006
|
NM_021100.5(NFS1):c.215G>A (p.Arg72Gln)
|
rs200592030
|
0.00006
|
NM_024678.6(NARS2):c.418C>T (p.Arg140Ter)
|
rs1057524183
|
0.00006
|
NM_024996.7(GFM1):c.2011C>T (p.Arg671Cys)
|
rs201408725
|
0.00006
|
NM_152269.5(MTRFR):c.96_99dup (p.Pro34fs)
|
rs863223926
|
0.00006
|
NM_002949.4(MRPL12):c.542C>T (p.Ala181Val)
|
rs577290119
|
0.00005
|
NM_006567.5(FARS2):c.919C>T (p.Arg307Ter)
|
rs148620369
|
0.00005
|
NM_006567.5(FARS2):c.989G>A (p.Arg330His)
|
rs863223957
|
0.00005
|
NM_017646.6(TRIT1):c.1256A>C (p.His419Pro)
|
rs566435653
|
0.00005
|
NM_020442.6(VARS2):c.1456G>T (p.Glu486Ter)
|
rs143821815
|
0.00005
|
NM_024678.6(NARS2):c.167A>G (p.Gln56Arg)
|
rs201751992
|
0.00005
|
NM_005726.6(TSFM):c.934C>T (p.Arg312Trp)
|
rs121909485
|
0.00004
|
NM_005726.6(TSFM):c.944G>A (p.Cys315Tyr)
|
rs587777688
|
0.00004
|
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_013337.4(TIMM22):c.75C>A (p.Tyr25Ter)
|
rs754537066
|
0.00004
|
NM_014672.4(PRORP):c.1334G>A (p.Arg445Gln)
|
rs777185638
|
0.00004
|
NM_017646.6(TRIT1):c.848T>G (p.Ile283Ser)
|
rs199622789
|
0.00004
|
NM_020442.6(VARS2):c.2038-1G>A
|
rs769768815
|
0.00004
|
NM_024996.7(GFM1):c.720del (p.Glu241fs)
|
rs745718158
|
0.00004
|
NM_025150.5(TARS2):c.1285C>T (p.Arg429Ter)
|
rs1382181446
|
0.00004
|
NM_145691.4(ATPAF2):c.133+1G>T
|
rs147941728
|
0.00004
|
NM_001212.4(C1QBP):c.557G>C (p.Cys186Ser)
|
rs748497469
|
0.00003
|
NM_001212.4(C1QBP):c.612C>G (p.Phe204Leu)
|
rs767427194
|
0.00003
|
NM_012123.4(MTO1):c.1282G>A (p.Ala428Thr)
|
rs143747297
|
0.00003
|
NM_016034.5(MRPS2):c.340G>A (p.Asp114Asn)
|
rs201229537
|
0.00003
|
NM_016034.5(MRPS2):c.413G>A (p.Arg138His)
|
rs758539748
|
0.00003
|
NM_017866.6(TMEM70):c.117_118dup (p.Ser40fs)
|
rs796052056
|
0.00003
|
NM_020810.3(TRMT5):c.872G>A (p.Arg291His)
|
rs746738473
|
0.00003
|
NM_024678.6(NARS2):c.641C>T (p.Pro214Leu)
|
rs730882155
|
0.00003
|
NM_024996.7(GFM1):c.1823G>A (p.Arg608Gln)
|
rs541171482
|
0.00003
|
NM_032380.5(GFM2):c.569G>A (p.Arg190Gln)
|
rs761283105
|
0.00003
|
NM_001136193.2(FASTKD2):c.868C>T (p.Arg290Ter)
|
rs778120270
|
0.00002
|
NM_005932.4(MIPEP):c.1970+2T>A
|
rs773688171
|
0.00002
|
NM_005932.4(MIPEP):c.916C>T (p.Leu306Phe)
|
rs143912947
|
0.00002
|
NM_012123.4(MTO1):c.1462C>T (p.Arg488Ter)
|
rs771939280
|
0.00002
|
NM_017909.4(RMND1):c.1250G>A (p.Arg417Gln)
|
rs397515421
|
0.00002
|
NM_018292.5(QRSL1):c.850-3A>G
|
rs947204455
|
0.00002
|
NM_020442.6(VARS2):c.1834_1835del (p.Leu612fs)
|
rs777028011
|
0.00002
|
NM_024678.6(NARS2):c.151C>T (p.Arg51Cys)
|
rs367584549
|
0.00002
|
NM_024996.7(GFM1):c.139C>T (p.Arg47Ter)
|
rs119470019
|
0.00002
|
NM_024996.7(GFM1):c.1576C>T (p.Arg526Ter)
|
rs1004779078
|
0.00002
|
NM_024996.7(GFM1):c.521A>G (p.Asn174Ser)
|
rs119470018
|
0.00002
|
NM_024996.7(GFM1):c.661C>T (p.Arg221Ter)
|
rs780762234
|
0.00002
|
NM_025150.5(TARS2):c.2143G>A (p.Glu715Lys)
|
rs756855066
|
0.00002
|
NM_025150.5(TARS2):c.968T>G (p.Phe323Cys)
|
rs760208518
|
0.00002
|
NM_001083614.2(EARS2):c.1235G>A (p.Arg412His)
|
rs753827689
|
0.00001
|
NM_001083614.2(EARS2):c.193A>G (p.Lys65Glu)
|
rs397514595
|
0.00001
|
NM_001083614.2(EARS2):c.320G>A (p.Arg107His)
|
rs1021330566
|
0.00001
|
NM_001083614.2(EARS2):c.417_418del (p.Cys140fs)
|
rs767857970
|
0.00001
|
NM_001083614.2(EARS2):c.500G>A (p.Cys167Tyr)
|
rs397514594
|
0.00001
|
NM_001083614.2(EARS2):c.610G>A (p.Gly204Ser)
|
rs397514592
|
0.00001
|
NM_001136193.2(FASTKD2):c.613C>T (p.Arg205Ter)
|
rs758094541
|
0.00001
|
NM_001379210.1(SLC25A26):c.305C>T (p.Ala102Val)
|
rs869025314
|
0.00001
|
NM_001379210.1(SLC25A26):c.33+1G>A
|
rs781798317
|
0.00001
|
NM_003321.5(TUFM):c.1016G>A (p.Arg339Gln)
|
rs121434452
|
0.00001
|
NM_004046.6(ATP5F1A):c.985C>T (p.Arg329Cys)
|
rs587776960
|
0.00001
|
NM_004564.3(GATB):c.408T>G (p.Phe136Leu)
|
rs376766195
|
0.00001
|
NM_004564.3(GATB):c.580_581del (p.Ser194fs)
|
rs565910322
|
0.00001
|
NM_005035.4(POLRMT):c.445C>T (p.Gln149Ter)
|
rs750698432
|
0.00001
|
NM_005726.6(TSFM):c.601C>T (p.Arg201Ter)
|
rs768320625
|
0.00001
|
NM_006567.5(FARS2):c.1156C>T (p.Arg386Ter)
|
rs770597592
|
0.00001
|
NM_006567.5(FARS2):c.1172A>T (p.Asp391Val)
|
rs397514612
|
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_006567.5(FARS2):c.986T>C (p.Ile329Thr)
|
rs397514611
|
0.00001
|
NM_007208.4(MRPL3):c.950C>G (p.Pro317Arg)
|
rs387906962
|
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_016034.5(MRPS2):c.328C>T (p.Arg110Cys)
|
rs761334309
|
0.00001
|
NM_017646.6(TRIT1):c.326T>C (p.Ile109Thr)
|
rs146838322
|
0.00001
|
NM_017646.6(TRIT1):c.856A>G (p.Lys286Glu)
|
rs1060505019
|
0.00001
|
NM_017646.6(TRIT1):c.967C>T (p.Arg323Trp)
|
rs370866302
|
0.00001
|
NM_017646.6(TRIT1):c.968G>A (p.Arg323Gln)
|
rs1047420796
|
0.00001
|
NM_017909.4(RMND1):c.613G>T (p.Asp205Tyr)
|
rs606231472
|
0.00001
|
NM_018127.7(ELAC2):c.1267C>T (p.Leu423Phe)
|
rs397515466
|
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_020442.6(VARS2):c.1010C>T (p.Thr337Ile)
|
rs587777585
|
0.00001
|
NM_020442.6(VARS2):c.1060G>A (p.Asp354Asn)
|
rs753490759
|
0.00001
|
NM_020442.6(VARS2):c.1400G>A (p.Arg467His)
|
rs775439829
|
0.00001
|
NM_020745.4(AARS2):c.1561C>T (p.Arg521Ter)
|
rs587777591
|
0.00001
|
NM_020745.4(AARS2):c.2255+1G>A
|
rs1186074948
|
0.00001
|
NM_020745.4(AARS2):c.277C>T (p.Arg93Ter)
|
rs760920084
|
0.00001
|
NM_020745.4(AARS2):c.464T>G (p.Leu155Arg)
|
rs387907061
|
0.00001
|
NM_020745.4(AARS2):c.964C>T (p.Arg322Cys)
|
rs767748655
|
0.00001
|
NM_020810.3(TRMT5):c.1156A>G (p.Met386Val)
|
rs1057517685
|
0.00001
|
NM_022072.5(NSUN3):c.295C>T (p.Arg99Ter)
|
rs762031082
|
0.00001
|
NM_023936.1(MRPS34):c.321+1G>T
|
rs1161932777
|
0.00001
|
NM_024537.4(CARS2):c.649_651del (p.Glu217del)
|
rs753472937
|
0.00001
|
NM_024537.4(CARS2):c.655G>A (p.Ala219Thr)
|
rs727505361
|
0.00001
|
NM_024537.4(CARS2):c.752C>T (p.Pro251Leu)
|
rs557671802
|
0.00001
|
NM_024678.6(NARS2):c.500A>G (p.His167Arg)
|
rs750594551
|
0.00001
|
NM_024678.6(NARS2):c.631T>A (p.Phe211Ile)
|
rs755122704
|
0.00001
|
NM_024996.7(GFM1):c.100C>T (p.Arg34Ter)
|
rs766234016
|
0.00001
|
NM_024996.7(GFM1):c.1922C>A (p.Ala641Glu)
|
rs1390685552
|
0.00001
|
NM_024996.7(GFM1):c.409G>A (p.Val137Met)
|
rs767325554
|
0.00001
|
NM_024996.7(GFM1):c.688G>A (p.Gly230Ser)
|
rs774456344
|
0.00001
|
NM_024996.7(GFM1):c.700C>T (p.Arg234Ter)
|
rs863224032
|
0.00001
|
NM_024996.7(GFM1):c.748C>T (p.Arg250Trp)
|
rs139430866
|
0.00001
|
NM_024996.7(GFM1):c.958C>G (p.Pro320Ala)
|
rs781397040
|
0.00001
|
NM_025150.5(TARS2):c.1838C>T (p.Pro613Leu)
|
rs767519084
|
0.00001
|
NM_025150.5(TARS2):c.470C>G (p.Thr157Arg)
|
rs758088548
|
0.00001
|
NM_025150.5(TARS2):c.695+3A>G
|
rs587777594
|
0.00001
|
NM_033109.5(PNPT1):c.1528G>C (p.Ala510Pro)
|
rs879255657
|
0.00001
|
NM_138395.4(MARS2):c.424C>T (p.Arg142Trp)
|
rs794726870
|
0.00001
|
NM_138395.4(MARS2):c.550C>T (p.Gln184Ter)
|
rs794726869
|
0.00001
|
NM_139242.4(MTFMT):c.382C>T (p.Arg128Ter)
|
rs397514613
|
0.00001
|
NM_139242.4(MTFMT):c.452C>T (p.Pro151Leu)
|
rs587777244
|
0.00001
|
NM_152269.5(MTRFR):c.394C>T (p.Arg132Ter)
|
rs397514539
|
0.00001
|
NM_205767.3(MICOS13):c.260-2A>G
|
rs1064797230
|
0.00001
|
NM_213649.2(SFXN4):c.414+1G>A
|
rs1380193482
|
0.00001
|
NM_213649.2(SFXN4):c.940C>T (p.Gln314Ter)
|
rs1156283736
|
0.00001
|
GRCh37/hg19 12q24.31(chr12:123738221-123738503)
|
|
|
GRCh37/hg19 12q24.31(chr12:123738222-123738503)
|
|
|
GRCh37/hg19 6p25.1(chr6:5545413-5545573)
|
|
|
GRCh37/hg19 6q25.1(chr6:151757398-151757691)
|
|
|
NC_000006.11:g.(?_5109657)_(6320826_?)del
|
|
|
NC_000006.11:g.(?_5172693)_(5459957_?)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_000008.11:g.(79919149_80002998)_(80003181_80030035)del
|
|
|
NC_000011.10:g.(78476711_78486359)del
|
|
|
NC_000011.9:g.(78180360_78189483)_(78189730_78204108)del
|
|
|
NC_000012.11:g.(?_123741340)_(123741578_?)del
|
|
|
NC_000017.10:g.(?_12896135)_(12921264_?)del
|
|
|
NC_000017.10:g.(?_12920159)_(12920458_?)del
|
|
|
NC_012920.1:m.8993T>C
|
rs199476133
|
|
NC_012920.1:m.8993T>G
|
rs199476133
|
|
NC_012920.1:m.9176T>C
|
rs199476135
|
|
NC_012920.1:m.9176T>G
|
rs199476135
|
|
NC_012920.1:m.9185T>C
|
rs199476138
|
|
NM_001083614.2(EARS2):c.1283del (p.Pro428fs)
|
rs1965287605
|
|
NM_001083614.2(EARS2):c.1465C>T (p.Arg489Trp)
|
|
|
NM_001083614.2(EARS2):c.212del (p.Phe71fs)
|
rs778413603
|
|
NM_001083614.2(EARS2):c.286G>A (p.Glu96Lys)
|
rs397514593
|
|
NM_001083614.2(EARS2):c.376C>T (p.Gln126Ter)
|
|
|
NM_001083614.2(EARS2):c.684C>A (p.Tyr228Ter)
|
rs1445826036
|
|
NM_001083614.2(EARS2):c.[1279_1280insTCC;502A>G]
|
|
|
NM_001136193.2(FASTKD2):c.1294C>T (p.Arg432Ter)
|
rs118203917
|
|
NM_001136193.2(FASTKD2):c.1861del (p.Ser621fs)
|
rs1574675683
|
|
NM_001136193.2(FASTKD2):c.764T>C (p.Leu255Pro)
|
rs1689552727
|
|
NM_001136193.2(FASTKD2):c.810_820dup (p.Ser274fs)
|
rs1574663066
|
|
NM_001136193.2(FASTKD2):c.849C>A (p.Cys283Ter)
|
rs1559359546
|
|
NM_001212.4(C1QBP):c.562_564del (p.Tyr188del)
|
rs755568057
|
|
NM_001212.4(C1QBP):c.739G>T (p.Gly247Trp)
|
rs1394499137
|
|
NM_001212.4(C1QBP):c.823C>T (p.Leu275Phe)
|
rs1555532484
|
|
NM_001212.4(C1QBP):c.824T>C (p.Leu275Pro)
|
rs1555532483
|
|
NM_001284401.2(TAMM41):c.329A>G (p.Tyr110Cys)
|
rs2125058823
|
|
NM_001284401.2(TAMM41):c.410C>T (p.Pro137Leu)
|
|
|
NM_001284401.2(TAMM41):c.411+1G>T
|
rs780204589
|
|
NM_001284401.2(TAMM41):c.709-2A>G
|
|
|
NM_001284401.2(TAMM41):c.806dup (p.Asn269fs)
|
rs768826552
|
|
NM_001379210.1(SLC25A26):c.443T>G (p.Val148Gly)
|
rs869025313
|
|
NM_001379210.1(SLC25A26):c.596C>T (p.Pro199Leu)
|
rs869025315
|
|
NM_001697.3(ATP5PO):c.329-20A>G
|
|
|
NM_001697.3(ATP5PO):c.34C>T (p.Gln12Ter)
|
|
|
NM_001697.3(ATP5PO):c.87+3A>G
|
rs1987287870
|
|
NM_003321.5(TUFM):c.162del (p.Thr53_Tyr54insTer)
|
rs1057518743
|
|
NM_003321.5(TUFM):c.440T>A (p.Leu147His)
|
rs1057518742
|
|
NM_004046.6(ATP5F1A):c.1037C>T (p.Ser346Phe)
|
rs2144178477
|
|
NM_004046.6(ATP5F1A):c.1252G>A (p.Gly418Arg)
|
|
|
NM_004046.6(ATP5F1A):c.545G>A (p.Arg182Gln)
|
rs2144189607
|
|
NM_004046.6(ATP5F1A):c.620G>A (p.Arg207His)
|
rs1555695342
|
|
NM_004046.6(ATP5F1A):c.962A>G (p.Tyr321Cys)
|
rs587777788
|
|
NM_004208.4(AIFM1):c.1013G>A (p.Gly338Glu)
|
rs1603223152
|
|
NM_004208.4(AIFM1):c.1164+5G>A
|
|
|
NM_004208.4(AIFM1):c.1264C>T (p.Arg422Trp)
|
rs724160020
|
|
NM_004208.4(AIFM1):c.1436A>G (p.Gln479Arg)
|
rs1057516211
|
|
NM_004208.4(AIFM1):c.603_605del (p.Arg201del)
|
rs387906500
|
|
NM_004208.4(AIFM1):c.727G>T (p.Val243Leu)
|
rs1603225138
|
|
NM_004208.4(AIFM1):c.923G>A (p.Gly308Glu)
|
rs1603224226
|
|
NM_005035.4(POLRMT):c.1832C>T (p.Ser611Phe)
|
rs2144625053
|
|
NM_005035.4(POLRMT):c.1923C>G (p.Phe641Leu)
|
rs748687181
|
|
NM_005035.4(POLRMT):c.2225_2242del (p.Pro742_Pro747del)
|
rs748846799
|
|
NM_005035.4(POLRMT):c.2775C>A (p.Cys925Ter)
|
rs55752843
|
|
NM_005035.4(POLRMT):c.3037C>T (p.Arg1013Cys)
|
rs745348188
|
|
NM_005035.4(POLRMT):c.[1696C>T;3578C>T]
|
|
|
NM_005726.6(TSFM):c.57+4A>G
|
rs587777689
|
|
NM_005726.6(TSFM):c.748G>T (p.Glu250Ter)
|
rs1955738689
|
|
NM_005932.4(MIPEP):c.1027A>G (p.Lys343Glu)
|
rs1057518741
|
|
NM_005932.4(MIPEP):c.1745T>G (p.Leu582Arg)
|
rs1057518739
|
|
NM_005932.4(MIPEP):c.1804G>T (p.Glu602Ter)
|
rs114638163
|
|
NM_005932.4(MIPEP):c.212T>A (p.Leu71Gln)
|
rs1057518740
|
|
NM_005932.4(MIPEP):c.787-51_993-181del
|
|
|
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.1113G>T (p.Leu371Phe)
|
rs1204079767
|
|
NM_006567.5(FARS2):c.11C>G (p.Ser4Ter)
|
|
|
NM_006567.5(FARS2):c.1218-73_1289delinsC
|
|
|
NM_006567.5(FARS2):c.1269_1276dup (p.Ser426Ter)
|
rs1561847309
|
|
NM_006567.5(FARS2):c.178C>T (p.Gln60Ter)
|
|
|
NM_006567.5(FARS2):c.251A>C (p.His84Pro)
|
rs1758844499
|
|
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.593G>T (p.Arg198Leu)
|
|
|
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.973G>T (p.Asp325Tyr)
|
rs764427452
|
|
NM_006567.5(FARS2):c.999G>A (p.Trp333Ter)
|
rs753467517
|
|
NM_006567.5:c.(?_-4)_(612+185_613-1)del
|
|
|
NM_006886.4(ATP5F1E):c.35A>G (p.Tyr12Cys)
|
rs387906929
|
|
NM_007208.4(MRPL3):c.49del (p.Arg17fs)
|
rs1582724664
|
|
NM_012123.4(MTO1):c.1136del (p.Gly379fs)
|
|
|
NM_012123.4(MTO1):c.1222A>T (p.Ile408Phe)
|
|
|
NM_012123.4(MTO1):c.1232C>T (p.Thr411Ile)
|
rs398122419
|
|
NM_012123.4(MTO1):c.1246del (p.Glu416fs)
|
rs1250411982
|
|
NM_012123.4(MTO1):c.1274del (p.Gly425fs)
|
|
|
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.1858dup (p.Arg620fs)
|
rs397518449
|
|
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_012123.4(MTO1):c.97del (p.Arg33fs)
|
rs1582666067
|
|
NM_012473.4(TXN2):c.71G>A (p.Trp24Ter)
|
rs754022333
|
|
NM_014018.3(MRPS28):c.356A>G (p.Lys119Arg)
|
rs1808705345
|
|
NM_014672.4(PRORP):c.1159A>G (p.Thr387Ala)
|
|
|
NM_014672.4(PRORP):c.1197dup (p.Ser400fs)
|
rs764714439
|
|
NM_014672.4(PRORP):c.1241C>T (p.Ala414Val)
|
|
|
NM_014672.4(PRORP):c.1454C>T (p.Ala485Val)
|
rs1169927428
|
|
NM_016065.4(MRPS16):c.331C>T (p.Arg111Ter)
|
rs104894168
|
|
NM_016070.4(MRPS23):c.119C>G (p.Pro40Arg)
|
rs772721937
|
|
NM_017446.4(MRPL39):c.526del (p.Ser176fs)
|
|
|
NM_017446.4(MRPL39):c.589-924G>A
|
rs1209423257
|
|
NM_017446.4(MRPL39):c.896G>T (p.Gly299Val)
|
rs1227035820
|
|
NM_017446.4(MRPL39):c.921+5G>A
|
|
|
NM_017646.6(TRIT1):c.1171_1172del (p.Lys391fs)
|
|
|
NM_017646.6(TRIT1):c.1204C>T (p.Arg402Ter)
|
rs367752391
|
|
NM_017646.6(TRIT1):c.22C>T (p.Arg8Ter)
|
rs184469579
|
|
NM_017646.6(TRIT1):c.334del (p.Arg112fs)
|
rs536000212
|
|
NM_017646.6(TRIT1):c.568C>T (p.Gln190Ter)
|
rs2124597984
|
|
NM_017646.6(TRIT1):c.882del (p.Glu295fs)
|
|
|
NM_017819.4(TRMT10C):c.814A>G (p.Thr272Ala)
|
rs875989831
|
|
NM_017909.2(RMND1):c.1003delG
|
rs1057519299
|
|
NM_017909.3(RMND1):c.[613G>T];[713A>G]
|
|
|
NM_017909.4(RMND1):c.108del (p.Phe36fs)
|
|
|
NM_017909.4(RMND1):c.1349G>C (p.Ter450Ser)
|
rs115079861
|
|
NM_017909.4(RMND1):c.485del (p.Pro162fs)
|
rs759477396
|
|
NM_017909.4(RMND1):c.504+1G>A
|
rs1562800908
|
|
NM_017909.4(RMND1):c.856del (p.Glu286fs)
|
rs1780213490
|
|
NM_017952.6(PTCD3):c.1453-1G>C
|
|
|
NM_017952.6(PTCD3):c.1746_1747dup (p.Phe583fs)
|
rs1573859565
|
|
NM_017952.6(PTCD3):c.1918C>G (p.Pro640Ala)
|
|
|
NM_017952.6(PTCD3):c.415-2A>G
|
rs1301547272
|
|
NM_017952.6(PTCD3):c.710del (p.Thr237fs)
|
rs1674335308
|
|
NM_017952.6(PTCD3):c.902C>T (p.Thr301Ile)
|
|
|
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.1559C>T (p.Thr520Ile)
|
rs397515463
|
|
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.457del (p.Ile153fs)
|
rs1567773277
|
|
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.52C>T (p.Gln18Ter)
|
|
|
NM_018127.7(ELAC2):c.751A>T (p.Arg251Ter)
|
rs397515464
|
|
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_018127.7(ELAC2):c.[1218+3A>C;2009del]
|
|
|
NM_018292.5(QRSL1):c.1279_1280delinsTT (p.Ala427Leu)
|
rs1562173313
|
|
NM_018292.5(QRSL1):c.350G>A (p.Gly117Glu)
|
rs1777047446
|
|
NM_018292.5(QRSL1):c.398G>T (p.Gly133Val)
|
rs1562168768
|
|
NM_018292.5(QRSL1):c.555C>A (p.Tyr185Ter)
|
rs763443331
|
|
NM_019095.6(CRLS1):c.326T>A (p.Ile109Asn)
|
|
|
NM_019095.6(CRLS1):c.515C>A (p.Ala172Asp)
|
|
|
NM_019095.6(CRLS1):c.649C>T (p.Leu217Phe)
|
|
|
NM_020191.4(MRPS22):c.644T>C (p.Leu215Pro)
|
rs387906924
|
|
NM_020191.4(MRPS22):c.648+1G>T
|
|
|
NM_020191.4(MRPS22):c.758T>C (p.Ile253Thr)
|
rs761121831
|
|
NM_020191.4(MRPS22):c.874_875del (p.Asp292fs)
|
rs775852045
|
|
NM_020408.6(LYRM4):c.203G>T (p.Arg68Leu)
|
rs587777218
|
|
NM_020442.6(VARS2):c.1045G>A (p.Ala349Thr)
|
rs587777583
|
|
NM_020442.6(VARS2):c.1346G>A (p.Trp449Ter)
|
|
|
NM_020442.6(VARS2):c.1787C>A (p.Ala596Asp)
|
rs587777584
|
|
NM_020442.6(VARS2):c.2149G>A (p.Ala717Thr)
|
rs772718755
|
|
NM_020442.6(VARS2):c.2758T>C (p.Tyr920His)
|
rs1794768738
|
|
NM_020442.6(VARS2):c.420del (p.Met141fs)
|
|
|
NM_020745.4(AARS2):c.1082C>T (p.Ser361Phe)
|
rs2153355304
|
|
NM_020745.4(AARS2):c.2027A>C (p.Gln676Pro)
|
rs1561938413
|
|
NM_020745.4(AARS2):c.2356G>A (p.Ala786Thr)
|
rs1554147776
|
|
NM_020745.4(AARS2):c.2487+1G>C
|
rs2153353848
|
|
NM_020745.4(AARS2):c.2884C>T (p.Gln962Ter)
|
rs1785274253
|
|
NM_020745.4(AARS2):c.647dup (p.Cys218fs)
|
rs587777589
|
|
NM_020745.4(AARS2):c.845C>G (p.Ser282Cys)
|
rs2153356880
|
|
NM_020810.3(TRMT5):c.312_315del (p.Ile105fs)
|
rs755184077
|
|
NM_020810.3(TRMT5):c.665T>C (p.Ile222Thr)
|
rs766935145
|
|
NM_022072.5(NSUN3):c.123-615_466+2155del
|
|
|
NM_022072.5(NSUN3):c.421G>C (p.Ala141Pro)
|
rs2077283982
|
|
NM_022072.5(NSUN3):c.454T>A (p.Cys152Ser)
|
rs2077284206
|
|
NM_022100.3(MRPS14):c.322C>T (p.Arg108Cys)
|
rs990763738
|
|
NM_022915.5(MRPL44):c.233G>A (p.Arg78Gln)
|
rs761343107
|
|
NM_022915.5(MRPL44):c.467T>C (p.Leu156Pro)
|
rs143697995
|
|
NM_022915.5(MRPL44):c.467T>G (p.Leu156Arg)
|
rs143697995
|
|
NM_022915.5(MRPL44):c.481_484delinsTC (p.Thr161fs)
|
rs2106116608
|
|
NM_022915.5(MRPL44):c.800T>A (p.Leu267Ter)
|
rs1574796091
|
|
NM_023936.2(MRPS34):c.37G>A (p.Glu13Lys)
|
rs1131692037
|
|
NM_024537.4(CARS2):c.1360dup (p.Ile454fs)
|
rs1555342802
|
|
NM_024537.4(CARS2):c.155T>G (p.Val52Gly)
|
rs1566366322
|
|
NM_024678.6(NARS2):c.10del (p.Val4fs)
|
rs1555047651
|
|
NM_024678.6(NARS2):c.1142A>G (p.Asn381Ser)
|
rs1565216037
|
|
NM_024678.6(NARS2):c.1184T>G (p.Leu395Arg)
|
rs763770414
|
|
NM_024678.6(NARS2):c.545T>A (p.Ile182Lys)
|
rs748779965
|
|
NM_024678.6(NARS2):c.594+1G>A
|
rs1035101172
|
|
NM_024678.6(NARS2):c.595-1G>A
|
|
|
NM_024678.6(NARS2):c.707T>G (p.Phe236Cys)
|
rs1565235204
|
|
NM_024678.6(NARS2):c.822G>C (p.Gln274His)
|
rs730882154
|
|
NM_024678.6(NARS2):c.969T>A (p.Tyr323Ter)
|
rs565224393
|
|
NM_024996.7(GFM1):c.1149_1160del (p.Ile384_Thr387del)
|
rs1576745248
|
|
NM_024996.7(GFM1):c.1297_1300del (p.Asp433fs)
|
rs866604517
|
|
NM_024996.7(GFM1):c.1324G>T (p.Glu442Ter)
|
rs757691557
|
|
NM_024996.7(GFM1):c.1404del (p.Gly469fs)
|
rs779877297
|
|
NM_024996.7(GFM1):c.1487T>G (p.Met496Arg)
|
rs119470020
|
|
NM_024996.7(GFM1):c.1510del (p.Tyr504fs)
|
rs1560135485
|
|
NM_024996.7(GFM1):c.1546T>C (p.Cys516Arg)
|
rs1576757241
|
|
NM_024996.7(GFM1):c.1571C>T (p.Ala524Val)
|
rs143031224
|
|
NM_024996.7(GFM1):c.1765-2_1765-1del
|
rs1245712932
|
|
NM_024996.7(GFM1):c.193C>T (p.Arg65Ter)
|
rs62286651
|
|
NM_024996.7(GFM1):c.248A>T (p.Asp83Val)
|
rs1576721522
|
|
NM_024996.7(GFM1):c.3G>A (p.Met1Ile)
|
rs863224030
|
|
NM_024996.7(GFM1):c.539del (p.Gly180fs)
|
rs1362847020
|
|
NM_024996.7(GFM1):c.817dup (p.Ile273fs)
|
|
|
NM_024996.7(GFM1):c.914del (p.Gly305fs)
|
|
|
NM_025150.5(TARS2):c.1274A>G (p.Glu425Gly)
|
rs2102494691
|
|
NM_025150.5(TARS2):c.845C>T (p.Pro282Leu)
|
rs587777593
|
|
NM_032380.5(GFM2):c.2029-1G>A
|
rs869320704
|
|
NM_032380.5(GFM2):c.206+4A>G
|
rs869320703
|
|
NM_032380.5(GFM2):c.275A>C (p.Tyr92Ser)
|
rs1554042187
|
|
NM_032380.5(GFM2):c.636del (p.Glu213fs)
|
rs746538436
|
|
NM_032620.4(GTPBP3):c.1009G>C (p.Asp337His)
|
rs886037735
|
|
NM_032620.4(GTPBP3):c.1291dup (p.Arg431fs)
|
rs869320746
|
|
NM_032620.4(GTPBP3):c.1375G>A (p.Glu459Lys)
|
rs886037734
|
|
NM_032620.4(GTPBP3):c.187C>T (p.Arg63Ter)
|
|
|
NM_032620.4(GTPBP3):c.32_33delinsGTG (p.Gln11fs)
|
rs886037736
|
|
NM_032620.4(GTPBP3):c.476A>T (p.Glu159Val)
|
rs730880255
|
|
NM_032620.4(GTPBP3):c.643G>T (p.Glu215Ter)
|
rs1555726849
|
|
NM_032620.4(GTPBP3):c.664+23_664+26del
|
rs765975578
|
|
NM_033109.5(PNPT1):c.1160A>G (p.Gln387Arg)
|
rs397514598
|
|
NM_033109.5(PNPT1):c.1399C>T (p.Pro467Ser)
|
rs1696380450
|
|
NM_033109.5(PNPT1):c.1453A>G (p.Met485Val)
|
rs767310806
|
|
NM_033109.5(PNPT1):c.1495G>C (p.Gly499Arg)
|
rs1559094461
|
|
NM_033109.5(PNPT1):c.1579_1580insGAT (p.Tyr527Ter)
|
rs2104038061
|
|
NM_033109.5(PNPT1):c.1818T>G (p.Val606=)
|
rs1049082567
|
|
NM_033109.5(PNPT1):c.208T>C (p.Ser70Pro)
|
rs1559114055
|
|
NM_033109.5(PNPT1):c.2137G>T (p.Asp713Tyr)
|
rs752550279
|
|
NM_033109.5(PNPT1):c.404-1G>A
|
rs863225449
|
|
NM_033109.5(PNPT1):c.406C>T (p.Arg136Cys)
|
|
|
NM_033109.5(PNPT1):c.407G>A (p.Arg136His)
|
rs746356243
|
|
NM_033109.5(PNPT1):c.760C>A (p.Gln254Lys)
|
rs778100619
|
|
NM_138395.4(MARS2):c.1032_1033del (p.Cys344fs)
|
rs757731660
|
|
NM_139242.4(MTFMT):c.146_153del (p.Arg49fs)
|
rs587777417
|
|
NM_139242.4(MTFMT):c.219_222del (p.Glu74fs)
|
rs777725264
|
|
NM_139242.4(MTFMT):c.374C>T (p.Ser125Leu)
|
rs397514614
|
|
NM_139242.4(MTFMT):c.73C>T (p.Gln25Ter)
|
rs587777419
|
|
NM_139242.4(MTFMT):c.878G>A (p.Ser293Asn)
|
rs587777418
|
|
NM_139242.4(MTFMT):c.91C>T (p.Arg31Ter)
|
rs1555404423
|
|
NM_145691.4(ATPAF2):c.280T>A (p.Trp94Arg)
|
rs104894554
|
|
NM_152269.5(MTRFR):c.135_142dup (p.Asp48fs)
|
|
|
NM_152269.5(MTRFR):c.193_194insCGAAAGCAGTTTG (p.Val65fs)
|
|
|
NM_152269.5(MTRFR):c.207_220del (p.Pro70fs)
|
|
|
NM_152269.5(MTRFR):c.248del (p.Val83fs)
|
rs587776508
|
|
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
|
|
NM_153689.6(C2orf69):c.280del (p.Glu94fs)
|
rs2106636277
|
|
NM_153689.6(C2orf69):c.298del (p.Gln100fs)
|
rs2077262520
|
|
NM_153689.6(C2orf69):c.311_313del (p.Leu104_Tyr105delinsHis)
|
rs2106636278
|
|
NM_153689.6(C2orf69):c.588_592del (p.Asn196fs)
|
|
|
NM_153689.6(C2orf69):c.843_847del (p.Lys282fs)
|
rs2106636543
|
|
NM_153689.6(C2orf69):c.909_925del (p.Ser304fs)
|
rs2106636544
|
|
NM_153689.6(C2orf69):c.929G>A (p.Trp310Ter)
|
rs2106636545
|
|
NM_176818.3(GATC):c.233T>G (p.Met78Arg)
|
rs1370579526
|
|
NM_205767.3(MICOS13):c.30-1G>A
|
rs1568293849
|
|
NM_205767.3(MICOS13):c.44del (p.Gly15fs)
|
rs1568293814
|
|
NM_213649.2(SFXN4):c.233del (p.Pro78fs)
|
rs398124642
|
|
NM_213649.2(SFXN4):c.368T>A (p.Leu123Ter)
|
rs2133612740
|
|
NM_213649.2(SFXN4):c.471+1G>A
|
rs367932369
|
|
NM_213649.2(SFXN4):c.739dup (p.Arg247fs)
|
rs1554886159
|
|
NM_213649.2(SFXN4):c.930del (p.Ile310fs)
|
rs1589625048
|
|