NM_024537.4(CARS2):c.1632C>A (p.Ser544Arg)
|
rs141184379
|
0.00297
|
NM_020745.4(AARS2):c.1162C>T (p.Pro388Ser)
|
rs139372744
|
0.00220
|
NM_001083614.2(EARS2):c.1045G>A (p.Glu349Lys)
|
rs187662524
|
0.00146
|
NM_006567.5(FARS2):c.506A>T (p.Asp169Val)
|
rs146356199
|
0.00141
|
NM_005726.6(TSFM):c.856C>T (p.Gln286Ter)
|
rs201754030
|
0.00136
|
NM_033109.5(PNPT1):c.688G>C (p.Glu230Gln)
|
rs34928857
|
0.00131
|
NM_020442.6(VARS2):c.2551C>T (p.Arg851Cys)
|
rs138855624
|
0.00129
|
NM_001083614.2(EARS2):c.263C>A (p.Ala88Glu)
|
rs201929423
|
0.00118
|
NM_005932.4(MIPEP):c.2045G>A (p.Gly682Asp)
|
rs150308123
|
0.00111
|
NM_033109.5(PNPT1):c.412A>G (p.Ile138Val)
|
rs76401964
|
0.00111
|
NM_033109.5(PNPT1):c.1525G>A (p.Val509Ile)
|
rs146571352
|
0.00109
|
NM_024537.4(CARS2):c.302G>A (p.Arg101Gln)
|
rs112070421
|
0.00094
|
NM_017909.4(RMND1):c.1085G>A (p.Arg362His)
|
rs142588921
|
0.00091
|
NM_005932.4(MIPEP):c.40G>A (p.Ala14Thr)
|
rs367730807
|
0.00074
|
NM_023936.2(MRPS34):c.94C>T (p.Gln32Ter)
|
rs763672163
|
0.00071
|
NM_024678.6(NARS2):c.640C>A (p.Pro214Thr)
|
rs140016209
|
0.00069
|
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_020810.3(TRMT5):c.-2G>A
|
rs147780353
|
0.00058
|
NM_139242.4(MTFMT):c.626C>T (p.Ser209Leu)
|
rs201431517
|
0.00058
|
NM_006567.5(FARS2):c.971A>G (p.Tyr324Cys)
|
rs142073519
|
0.00052
|
NM_024537.4(CARS2):c.540T>G (p.Ile180Met)
|
rs145988159
|
0.00049
|
NM_017646.6(TRIT1):c.16G>A (p.Ala6Thr)
|
rs138415849
|
0.00046
|
NM_020745.4(AARS2):c.533C>T (p.Ala178Val)
|
rs200343365
|
0.00043
|
NM_024678.6(NARS2):c.606_607insAGC (p.Lys202_Leu203insSer)
|
rs762191692
|
0.00043
|
NM_025150.5(TARS2):c.773C>T (p.Ser258Leu)
|
rs145039072
|
0.00042
|
NM_005726.6(TSFM):c.688G>T (p.Val230Leu)
|
rs151248026
|
0.00041
|
NM_145691.4(ATPAF2):c.40C>G (p.Arg14Gly)
|
rs143241583
|
0.00040
|
NM_033109.5(PNPT1):c.1676C>G (p.Ala559Gly)
|
rs149843729
|
0.00038
|
NM_024537.4(CARS2):c.1331C>T (p.Pro444Leu)
|
rs151097801
|
0.00033
|
NM_024537.4(CARS2):c.563C>T (p.Thr188Met)
|
rs142034206
|
0.00030
|
NM_020442.6(VARS2):c.2624C>T (p.Pro875Leu)
|
rs376070793
|
0.00028
|
NM_025150.5(TARS2):c.1354C>T (p.Arg452Trp)
|
rs146503501
|
0.00028
|
NM_007208.4(MRPL3):c.862T>C (p.Ser288Pro)
|
rs143788120
|
0.00027
|
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_139242.4(MTFMT):c.34C>A (p.Pro12Thr)
|
rs933296601
|
0.00021
|
NM_020745.4(AARS2):c.1157C>T (p.Ala386Val)
|
rs143271585
|
0.00019
|
NM_032380.5(GFM2):c.1040T>C (p.Met347Thr)
|
rs774464063
|
0.00017
|
NM_006567.5(FARS2):c.1268G>A (p.Arg423Gln)
|
rs148921184
|
0.00016
|
NM_020442.6(VARS2):c.1954C>T (p.Arg652Trp)
|
rs148448090
|
0.00015
|
NM_023936.2(MRPS34):c.322-10G>A
|
rs563189672
|
0.00015
|
NM_017909.4(RMND1):c.713A>G (p.Asn238Ser)
|
rs144972972
|
0.00013
|
NM_022915.5(MRPL44):c.791C>G (p.Thr264Ser)
|
rs141166571
|
0.00013
|
NM_024537.4(CARS2):c.1448T>G (p.Leu483Trp)
|
rs766266851
|
0.00013
|
NM_020442.6(VARS2):c.736T>C (p.Cys246Arg)
|
rs140184279
|
0.00011
|
NM_024996.7(GFM1):c.689+908G>A
|
rs751069628
|
0.00011
|
NM_020442.6(VARS2):c.3005G>A (p.Arg1002Gln)
|
rs767441762
|
0.00010
|
NM_024537.4(CARS2):c.9G>T (p.Arg3Ser)
|
rs766060435
|
0.00010
|
NM_024678.6(NARS2):c.847A>G (p.Thr283Ala)
|
rs549442380
|
0.00010
|
NM_145691.4(ATPAF2):c.802G>A (p.Ala268Thr)
|
rs368477064
|
0.00010
|
NM_001206427.2(ATP5MK):c.59A>G (p.Asn20Ser)
|
rs140938014
|
0.00009
|
NM_020745.4(AARS2):c.679G>A (p.Asp227Asn)
|
rs765016818
|
0.00009
|
NM_033109.5(PNPT1):c.1592C>G (p.Thr531Arg)
|
rs374698153
|
0.00008
|
NM_020745.4(AARS2):c.2266C>T (p.Arg756Cys)
|
rs753324375
|
0.00007
|
NM_020745.4(AARS2):c.595C>T (p.Arg199Cys)
|
rs200105202
|
0.00007
|
NM_005932.4(MIPEP):c.1708G>A (p.Ala570Thr)
|
rs202147615
|
0.00006
|
NM_017646.6(TRIT1):c.289G>A (p.Asp97Asn)
|
rs766087007
|
0.00006
|
NM_020442.6(VARS2):c.3092T>G (p.Leu1031Arg)
|
rs201946203
|
0.00006
|
NM_024996.7(GFM1):c.2011C>T (p.Arg671Cys)
|
rs201408725
|
0.00006
|
NM_033109.5(PNPT1):c.493C>T (p.Pro165Ser)
|
rs151166046
|
0.00006
|
NM_139242.4(MTFMT):c.419+3A>G
|
rs182623063
|
0.00006
|
NM_024996.7(GFM1):c.850C>T (p.Arg284Ter)
|
rs771890880
|
0.00005
|
NM_004046.6(ATP5F1A):c.295T>C (p.Ser99Pro)
|
rs745896289
|
0.00004
|
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_005932.4(MIPEP):c.1090G>A (p.Val364Met)
|
rs780905427
|
0.00004
|
NM_005932.4(MIPEP):c.1526G>A (p.Arg509His)
|
rs369521380
|
0.00004
|
NM_006567.5(FARS2):c.461C>T (p.Ala154Val)
|
rs749588235
|
0.00004
|
NM_006567.5(FARS2):c.497C>T (p.Ala166Val)
|
rs538791135
|
0.00004
|
NM_012123.4(MTO1):c.1201C>T (p.Arg401Ter)
|
rs775623164
|
0.00004
|
NM_012123.4(MTO1):c.1222A>G (p.Ile408Val)
|
rs149407452
|
0.00004
|
NM_017646.6(TRIT1):c.1214T>C (p.Ile405Thr)
|
rs776537579
|
0.00004
|
NM_020442.6(VARS2):c.142C>G (p.Gln48Glu)
|
rs750590170
|
0.00004
|
NM_020442.6(VARS2):c.2038-1G>A
|
rs769768815
|
0.00004
|
NM_020442.6(VARS2):c.2501G>A (p.Arg834His)
|
rs747564856
|
0.00004
|
NM_024996.7(GFM1):c.720del (p.Glu241fs)
|
rs745718158
|
0.00004
|
NM_024996.7(GFM1):c.997_998+2del
|
rs763084523
|
0.00004
|
NM_003321.5(TUFM):c.1348A>G (p.Lys450Glu)
|
rs199674838
|
0.00003
|
NM_005726.6(TSFM):c.161G>A (p.Arg54Gln)
|
rs202213736
|
0.00003
|
NM_020745.4(AARS2):c.2561G>A (p.Arg854His)
|
rs751611980
|
0.00003
|
NM_033109.5(PNPT1):c.1121T>C (p.Val374Ala)
|
rs377657203
|
0.00003
|
NM_001083614.2(EARS2):c.1352G>T (p.Gly451Val)
|
rs201181229
|
0.00002
|
NM_001083614.2(EARS2):c.913G>A (p.Asp305Asn)
|
rs368574794
|
0.00002
|
NM_017909.4(RMND1):c.1318-11T>C
|
rs765780346
|
0.00002
|
NM_020191.4(MRPS22):c.137T>C (p.Met46Thr)
|
rs1467055834
|
0.00002
|
NM_020408.6(LYRM4):c.172A>G (p.Lys58Glu)
|
rs759132658
|
0.00002
|
NM_020442.6(VARS2):c.275A>G (p.Glu92Gly)
|
rs767695626
|
0.00002
|
NM_024678.6(NARS2):c.141+5G>C
|
rs766606763
|
0.00002
|
NM_024996.7(GFM1):c.1255_1277dup (p.Ser427fs)
|
rs753352064
|
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.1207G>A (p.Ala403Thr)
|
rs587685186
|
0.00002
|
NM_032380.5(GFM2):c.200T>C (p.Ile67Thr)
|
rs181900110
|
0.00002
|
NM_145691.4(ATPAF2):c.713G>A (p.Arg238His)
|
rs770015610
|
0.00002
|
NM_001083614.2(EARS2):c.417_418del (p.Cys140fs)
|
rs767857970
|
0.00001
|
NM_001083614.2(EARS2):c.43T>C (p.Ser15Pro)
|
rs755022102
|
0.00001
|
NM_003321.5(TUFM):c.100C>G (p.Leu34Val)
|
rs760020885
|
0.00001
|
NM_005726.6(TSFM):c.403C>T (p.Gln135Ter)
|
rs751169823
|
0.00001
|
NM_005726.6(TSFM):c.557T>A (p.Leu186Ter)
|
rs373811833
|
0.00001
|
NM_005726.6(TSFM):c.571+1G>C
|
rs750371292
|
0.00001
|
NM_005726.6(TSFM):c.601C>T (p.Arg201Ter)
|
rs768320625
|
0.00001
|
NM_005726.6(TSFM):c.908_909del (p.Gln303fs)
|
rs1491203033
|
0.00001
|
NM_005932.4(MIPEP):c.1354A>C (p.Ile452Leu)
|
rs756060769
|
0.00001
|
NM_006567.5(FARS2):c.515T>C (p.Leu172Pro)
|
rs754132045
|
0.00001
|
NM_012123.4(MTO1):c.82G>A (p.Asp28Asn)
|
rs780242649
|
0.00001
|
NM_015971.4(MRPS7):c.508-1G>A
|
rs372546274
|
0.00001
|
NM_017909.4(RMND1):c.1039G>A (p.Glu347Lys)
|
rs778086286
|
0.00001
|
NM_017909.4(RMND1):c.530C>T (p.Ala177Val)
|
rs1261711776
|
0.00001
|
NM_020442.6(VARS2):c.1400G>A (p.Arg467His)
|
rs775439829
|
0.00001
|
NM_020442.6(VARS2):c.2684G>A (p.Arg895His)
|
rs570231965
|
0.00001
|
NM_020442.6(VARS2):c.631C>T (p.Arg211Trp)
|
rs544609783
|
0.00001
|
NM_020745.4(AARS2):c.2146-2A>G
|
rs368934219
|
0.00001
|
NM_024537.4(CARS2):c.1377G>C (p.Gln459His)
|
rs1047045222
|
0.00001
|
NM_024678.6(NARS2):c.1303C>T (p.Arg435Cys)
|
rs1481123553
|
0.00001
|
NM_024996.7(GFM1):c.100C>T (p.Arg34Ter)
|
rs766234016
|
0.00001
|
NM_024996.7(GFM1):c.1090C>T (p.Arg364Ter)
|
rs775919783
|
0.00001
|
NM_024996.7(GFM1):c.1221+20G>A
|
rs1412836196
|
0.00001
|
NM_024996.7(GFM1):c.1596del (p.Val533fs)
|
rs761095873
|
0.00001
|
NM_024996.7(GFM1):c.1882C>T (p.Arg628Ter)
|
rs889180452
|
0.00001
|
NM_024996.7(GFM1):c.1910-1G>A
|
rs1462851267
|
0.00001
|
NM_024996.7(GFM1):c.1910-2A>T
|
rs867885977
|
0.00001
|
NM_024996.7(GFM1):c.2008C>T (p.Arg670Ter)
|
rs1402362655
|
0.00001
|
NM_024996.7(GFM1):c.424del (p.Val142fs)
|
rs886058120
|
0.00001
|
NM_024996.7(GFM1):c.688G>A (p.Gly230Ser)
|
rs774456344
|
0.00001
|
NM_024996.7(GFM1):c.689+1G>A
|
rs1449057162
|
0.00001
|
NM_024996.7(GFM1):c.69G>A (p.Trp23Ter)
|
rs763344414
|
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.81+1G>A
|
rs1262218849
|
0.00001
|
NM_032620.4(GTPBP3):c.1409G>A (p.Arg470Gln)
|
rs1228454692
|
0.00001
|
NM_032620.4(GTPBP3):c.188G>A (p.Arg63Gln)
|
rs1404625905
|
0.00001
|
NM_213649.2(SFXN4):c.410C>T (p.Pro137Leu)
|
rs377410779
|
0.00001
|
NM_213649.2(SFXN4):c.649C>T (p.Arg217Ter)
|
rs756173225
|
0.00001
|
NM_001083614.2(EARS2):c.1015G>T (p.Val339Phe)
|
|
|
NM_001083614.2(EARS2):c.1351G>A (p.Gly451Arg)
|
rs767133394
|
|
NM_001083614.2(EARS2):c.1488+16G>A
|
|
|
NM_001083614.2(EARS2):c.745G>C (p.Glu249Gln)
|
rs1965392345
|
|
NM_001136193.2(FASTKD2):c.1796C>T (p.Pro599Leu)
|
|
|
NM_003321.5(TUFM):c.562G>A (p.Ala188Thr)
|
rs1167098942
|
|
NM_004208.4(AIFM1):c.1264C>T (p.Arg422Trp)
|
rs724160020
|
|
NM_004208.4(AIFM1):c.1265G>A (p.Arg422Gln)
|
rs724160021
|
|
NM_004208.4(AIFM1):c.147G>C (p.Gln49His)
|
rs867606904
|
|
NM_004208.4(AIFM1):c.1596T>A (p.Ser532Arg)
|
|
|
NM_005035.4(POLRMT):c.1291-9C>A
|
|
|
NM_005035.4(POLRMT):c.1340G>A (p.Arg447Gln)
|
|
|
NM_005035.4(POLRMT):c.1378G>C (p.Val460Leu)
|
|
|
NM_005035.4(POLRMT):c.1627-3C>T
|
|
|
NM_005035.4(POLRMT):c.2002A>C (p.Thr668Pro)
|
|
|
NM_005035.4(POLRMT):c.2029G>A (p.Ala677Thr)
|
|
|
NM_005035.4(POLRMT):c.2131G>C (p.Gly711Arg)
|
|
|
NM_005035.4(POLRMT):c.232G>A (p.Val78Met)
|
|
|
NM_005035.4(POLRMT):c.2511C>G (p.Gly837=)
|
|
|
NM_005035.4(POLRMT):c.757C>T (p.Arg253Trp)
|
|
|
NM_005035.4(POLRMT):c.954-1G>C
|
|
|
NM_005726.6(TSFM):c.115dup (p.Arg39fs)
|
|
|
NM_005726.6(TSFM):c.139A>T (p.Lys47Ter)
|
|
|
NM_005726.6(TSFM):c.177_187del (p.Tyr59_Asn63delinsTer)
|
|
|
NM_005726.6(TSFM):c.223del (p.Leu75fs)
|
|
|
NM_005726.6(TSFM):c.231+1G>A
|
|
|
NM_005726.6(TSFM):c.250A>T (p.Lys84Ter)
|
|
|
NM_005726.6(TSFM):c.259C>T (p.Gln87Ter)
|
|
|
NM_005726.6(TSFM):c.27_28del (p.Phe10fs)
|
rs2140412540
|
|
NM_005726.6(TSFM):c.382del (p.Val128fs)
|
|
|
NM_005726.6(TSFM):c.399del (p.Lys133fs)
|
rs1955600413
|
|
NM_005726.6(TSFM):c.484-1G>A
|
|
|
NM_005726.6(TSFM):c.484G>A (p.Gly162Ser)
|
|
|
NM_005726.6(TSFM):c.545_548del (p.Leu182fs)
|
|
|
NM_005726.6(TSFM):c.57+1G>A
|
rs1403882425
|
|
NM_005726.6(TSFM):c.5C>A (p.Ser2Ter)
|
|
|
NM_005726.6(TSFM):c.600dup (p.Arg201fs)
|
|
|
NM_005726.6(TSFM):c.611G>A (p.Trp204Ter)
|
|
|
NM_005726.6(TSFM):c.628_629insCATG (p.Gly210fs)
|
|
|
NM_005726.6(TSFM):c.719G>C (p.Cys240Ser)
|
|
|
NM_005726.6(TSFM):c.74del (p.Arg25fs)
|
|
|
NM_005726.6(TSFM):c.76C>T (p.Gln26Ter)
|
rs774870834
|
|
NM_005726.6(TSFM):c.796dup (p.Leu266fs)
|
|
|
NM_005726.6(TSFM):c.797delinsGG (p.Leu266fs)
|
|
|
NM_005726.6(TSFM):c.808_809del (p.Ser270fs)
|
|
|
NM_005726.6(TSFM):c.85C>T (p.Gln29Ter)
|
rs2140413092
|
|
NM_005932.4(MIPEP):c.1008T>G (p.Phe336Leu)
|
rs1870346695
|
|
NM_005932.4(MIPEP):c.1088G>T (p.Gly363Val)
|
rs1870163153
|
|
NM_006567.5(FARS2):c.1345G>C (p.Gly449Arg)
|
|
|
NM_006567.5(FARS2):c.902C>T (p.Ser301Leu)
|
|
|
NM_006567.5(FARS2):c.988C>A (p.Arg330Ser)
|
rs757442324
|
|
NM_007208.4(MRPL3):c.793T>C (p.Tyr265His)
|
|
|
NM_012123.4(MTO1):c.*7A>G
|
|
|
NM_012123.4(MTO1):c.-4C>T
|
|
|
NM_012123.4(MTO1):c.1391G>T (p.Arg464Leu)
|
rs141970072
|
|
NM_012123.4(MTO1):c.1393A>G (p.Met465Val)
|
rs1000432861
|
|
NM_012123.4(MTO1):c.1637G>C (p.Arg546Thr)
|
|
|
NM_012123.4(MTO1):c.79A>T (p.Ser27Cys)
|
rs1240435216
|
|
NM_012123.4(MTO1):c.982C>T (p.Arg328Cys)
|
|
|
NM_012473.4(TXN2):c.376A>G (p.Ile126Val)
|
rs141470075
|
|
NM_016034.5(MRPS2):c.400C>T (p.His134Tyr)
|
rs995894816
|
|
NM_016034.5(MRPS2):c.862C>A (p.Pro288Thr)
|
rs1831230615
|
|
NM_016065.4(MRPS16):c.238G>A (p.Gly80Arg)
|
|
|
NM_017909.4(RMND1):c.1049T>C (p.Met350Thr)
|
rs1582950315
|
|
NM_017909.4(RMND1):c.1349G>C (p.Ter450Ser)
|
rs115079861
|
|
NM_017952.6(PTCD3):c.1571G>T (p.Arg524Leu)
|
|
|
NM_017952.6(PTCD3):c.1782A>G (p.Lys594=)
|
|
|
NM_017952.6(PTCD3):c.194G>C (p.Trp65Ser)
|
|
|
NM_018127.7(ELAC2):c.1908+1G>A
|
rs1014558424
|
|
NM_018127.7(ELAC2):c.457del (p.Ile153fs)
|
rs1567773277
|
|
NM_018127.7(ELAC2):c.595A>G (p.Ser199Gly)
|
rs1693923229
|
|
NM_018127.7(ELAC2):c.893C>A (p.Thr298Asn)
|
|
|
NM_020191.4(MRPS22):c.318G>A (p.Met106Ile)
|
rs973338617
|
|
NM_020191.4(MRPS22):c.874_875del (p.Asp292fs)
|
rs775852045
|
|
NM_020442.6(VARS2):c.2869_2876dup (p.Leu961fs)
|
rs1794789052
|
|
NM_020442.6(VARS2):c.842G>A (p.Cys281Tyr)
|
|
|
NM_020745.4(AARS2):c.31_39del (p.Leu12_Arg14del)
|
rs562829310
|
|
NM_020745.4(AARS2):c.472C>A (p.Gln158Lys)
|
rs759138272
|
|
NM_020745.4(AARS2):c.647dup (p.Cys218fs)
|
rs587777589
|
|
NM_020745.4(AARS2):c.649C>T (p.Pro217Ser)
|
rs1786310363
|
|
NM_020810.3(TRMT5):c.171C>G (p.Phe57Leu)
|
rs978146113
|
|
NM_024537.4(CARS2):c.1684_1685insA (p.Ser562fs)
|
rs1887287265
|
|
NM_024678.6(NARS2):c.436A>G (p.Arg146Gly)
|
rs1856737824
|
|
NM_024996.7(GFM1):c.1044_1056del (p.Asn349fs)
|
|
|
NM_024996.7(GFM1):c.113_116dup (p.Val40fs)
|
|
|
NM_024996.7(GFM1):c.114_115del (p.Val40fs)
|
|
|
NM_024996.7(GFM1):c.114del (p.Gly39_Val40insTer)
|
|
|
NM_024996.7(GFM1):c.1157dup (p.Asn386fs)
|
|
|
NM_024996.7(GFM1):c.1172del (p.Lys391fs)
|
rs1263604546
|
|
NM_024996.7(GFM1):c.1186C>T (p.Gln396Ter)
|
rs1332636394
|
|
NM_024996.7(GFM1):c.1193T>C (p.Leu398Pro)
|
|
|
NM_024996.7(GFM1):c.1303dup (p.Ala435fs)
|
|
|
NM_024996.7(GFM1):c.1324G>T (p.Glu442Ter)
|
rs757691557
|
|
NM_024996.7(GFM1):c.136del (p.Ile46fs)
|
|
|
NM_024996.7(GFM1):c.1380+2T>G
|
|
|
NM_024996.7(GFM1):c.1381-1G>C
|
|
|
NM_024996.7(GFM1):c.1404del (p.Gly469fs)
|
rs779877297
|
|
NM_024996.7(GFM1):c.1424del (p.Arg475fs)
|
rs1723572750
|
|
NM_024996.7(GFM1):c.1516C>T (p.Gln506Ter)
|
|
|
NM_024996.7(GFM1):c.1532_1533del (p.Glu511fs)
|
rs768112611
|
|
NM_024996.7(GFM1):c.154_155del (p.Ala53fs)
|
|
|
NM_024996.7(GFM1):c.1601+1G>A
|
rs748116978
|
|
NM_024996.7(GFM1):c.1632dup (p.Gly545fs)
|
|
|
NM_024996.7(GFM1):c.166_169dup (p.Ser57Ter)
|
rs752037355
|
|
NM_024996.7(GFM1):c.1765-2A>G
|
rs2108102423
|
|
NM_024996.7(GFM1):c.1765-2_1765-1del
|
rs1245712932
|
|
NM_024996.7(GFM1):c.1799del (p.Ser600fs)
|
|
|
NM_024996.7(GFM1):c.1905_1908del (p.Gln636fs)
|
|
|
NM_024996.7(GFM1):c.1909+2T>A
|
|
|
NM_024996.7(GFM1):c.193C>T (p.Arg65Ter)
|
rs62286651
|
|
NM_024996.7(GFM1):c.1951del (p.Ala651fs)
|
|
|
NM_024996.7(GFM1):c.1981C>T (p.Gln661Ter)
|
|
|
NM_024996.7(GFM1):c.247_248del (p.Asp83fs)
|
rs1721780124
|
|
NM_024996.7(GFM1):c.291_292del (p.Gly99fs)
|
rs752400894
|
|
NM_024996.7(GFM1):c.324C>G (p.Tyr108Ter)
|
|
|
NM_024996.7(GFM1):c.361dup (p.Thr121fs)
|
|
|
NM_024996.7(GFM1):c.362_367delinsTT (p.Thr121fs)
|
|
|
NM_024996.7(GFM1):c.367+1G>A
|
|
|
NM_024996.7(GFM1):c.368-2A>C
|
|
|
NM_024996.7(GFM1):c.368-2A>G
|
|
|
NM_024996.7(GFM1):c.381del (p.Phe127fs)
|
|
|
NM_024996.7(GFM1):c.408A>T (p.Arg136Ser)
|
rs1721844379
|
|
NM_024996.7(GFM1):c.527T>A (p.Leu176Ter)
|
|
|
NM_024996.7(GFM1):c.532C>T (p.Arg178Ter)
|
rs1721865059
|
|
NM_024996.7(GFM1):c.539del (p.Gly180fs)
|
rs1362847020
|
|
NM_024996.7(GFM1):c.573-1G>C
|
rs2108009356
|
|
NM_024996.7(GFM1):c.573-2A>G
|
|
|
NM_024996.7(GFM1):c.575C>A (p.Ser192Tyr)
|
|
|
NM_024996.7(GFM1):c.579dup (p.Leu194fs)
|
|
|
NM_024996.7(GFM1):c.626del (p.Gly209fs)
|
|
|
NM_024996.7(GFM1):c.636del (p.Gly213fs)
|
|
|
NM_024996.7(GFM1):c.689+2T>C
|
|
|
NM_024996.7(GFM1):c.690_693del
|
rs778902849
|
|
NM_024996.7(GFM1):c.705T>G (p.Tyr235Ter)
|
|
|
NM_024996.7(GFM1):c.725T>G (p.Leu242Ter)
|
|
|
NM_024996.7(GFM1):c.754G>A (p.Glu252Lys)
|
|
|
NM_024996.7(GFM1):c.787C>T (p.Gln263Ter)
|
|
|
NM_024996.7(GFM1):c.817dup (p.Ile273fs)
|
|
|
NM_024996.7(GFM1):c.829dup (p.Ser277fs)
|
rs771865940
|
|
NM_024996.7(GFM1):c.89_99del (p.Trp30fs)
|
rs763423294
|
|
NM_024996.7(GFM1):c.909del (p.Asn303fs)
|
|
|
NM_024996.7(GFM1):c.914del (p.Gly305fs)
|
|
|
NM_024996.7(GFM1):c.929T>G (p.Leu310Ter)
|
|
|
NM_024996.7(GFM1):c.974del (p.Asn325fs)
|
|
|
NM_024996.7(GFM1):c.999-1G>C
|
|
|
NM_025150.5(TARS2):c.736C>T (p.Arg246Trp)
|
rs763015481
|
|
NM_025150.5(TARS2):c.887A>G (p.Glu296Gly)
|
rs1669673209
|
|
NM_032380.5(GFM2):c.2206A>G (p.Ile736Val)
|
|
|
NM_033109.5(PNPT1):c.1906+1G>A
|
rs1695931094
|
|
NM_033109.5(PNPT1):c.2012A>T (p.Asp671Val)
|
rs144252007
|
|
NM_033109.5(PNPT1):c.274C>G (p.Pro92Ala)
|
rs750110394
|
|
NM_138395.4(MARS2):c.1032_1033del (p.Cys344fs)
|
rs757731660
|
|
NM_138395.4(MARS2):c.494A>G (p.Tyr165Cys)
|
rs756596155
|
|
NM_138395.4(MARS2):c.928A>G (p.Lys310Glu)
|
rs771207265
|
|
NM_139242.4(MTFMT):c.1123AAG[2] (p.Lys377del)
|
rs769122836
|
|
NM_139242.4(MTFMT):c.374C>T (p.Ser125Leu)
|
rs397514614
|
|
NM_139242.4(MTFMT):c.460C>T (p.Arg154Cys)
|
rs760793624
|
|
NM_139242.4(MTFMT):c.466C>T (p.Pro156Ser)
|
rs2086395834
|
|
NM_145691.4(ATPAF2):c.480A>C (p.Pro160=)
|
rs2044519018
|
|
NM_213649.2(SFXN4):c.930del (p.Ile310fs)
|
rs1589625048
|
|