NM_182916.3(TRNT1):c.68C>T (p.Pro23Leu)
|
rs334773
|
0.90803
|
NM_182916.3(TRNT1):c.148+38A>G
|
rs334772
|
0.90454
|
NM_017875.4(SLC25A38):c.456+36G>A
|
rs1995236
|
0.88218
|
NM_025215.6(PUS1):c.303+89G>T
|
rs10902480
|
0.82359
|
NM_182916.3(TRNT1):c.948A>G (p.Ala316=)
|
rs1705805
|
0.73295
|
NM_182916.3(TRNT1):c.1056+11A>G
|
rs1669348
|
0.53660
|
NM_017875.4(SLC25A38):c.165G>A (p.Leu55=)
|
rs2270770
|
0.39870
|
NM_017875.4(SLC25A38):c.626-36G>C
|
rs870843
|
0.27843
|
NM_017875.4(SLC25A38):c.*310A>T
|
rs12991
|
0.26507
|
NM_012062.5(DNM1L):c.*1093T>C
|
rs1971910
|
0.22300
|
NM_001040436.3(YARS2):c.*209G>C
|
rs10844337
|
0.15609
|
NM_001040436.3(YARS2):c.*643G>A
|
rs11052214
|
0.14502
|
NM_001040436.3(YARS2):c.291C>T (p.Gly97=)
|
rs11539444
|
0.14354
|
NM_001040436.3(YARS2):c.572G>T (p.Gly191Val)
|
rs11539445
|
0.14334
|
NM_017875.4(SLC25A38):c.*588T>A
|
rs6890
|
0.12968
|
NM_025215.6(PUS1):c.-182C>T
|
rs61942438
|
0.12527
|
NM_182916.3(TRNT1):c.68= (p.Pro23=)
|
rs334773
|
0.09197
|
NM_001271696.3(ABCB7):c.1739C>T (p.Ala580Val)
|
rs1340989
|
0.08733
|
NM_000032.5(ALAS2):c.*56A>C
|
rs6612250
|
0.06184
|
NM_182916.3(TRNT1):c.444G>T (p.Ala148=)
|
rs41399044
|
0.03661
|
NM_182916.3(TRNT1):c.133C>T (p.Leu45=)
|
rs75033443
|
0.03301
|
NM_001040436.3(YARS2):c.1026G>A (p.Arg342=)
|
rs35339227
|
0.02168
|
NM_017875.4(SLC25A38):c.*472G>T
|
rs141567816
|
0.01690
|
NM_025215.6(PUS1):c.*16C>T
|
rs116003934
|
0.01667
|
NM_000032.5(ALAS2):c.1626G>A (p.Ala542=)
|
rs6612251
|
0.01631
|
NM_017875.4(SLC25A38):c.-303A>C
|
rs114422738
|
0.01335
|
NM_017875.4(SLC25A38):c.-209A>G
|
rs143903497
|
0.01332
|
NM_001040436.3(YARS2):c.*191T>C
|
rs144235100
|
0.01314
|
NM_001040436.3(YARS2):c.*162A>G
|
rs11052215
|
0.01096
|
NM_001040436.3(YARS2):c.1356A>G (p.Gln452=)
|
rs148729348
|
0.00975
|
NM_001271696.3(ABCB7):c.945-7C>T
|
rs5937938
|
0.00961
|
NM_025215.6(PUS1):c.*208T>C
|
rs148927836
|
0.00929
|
NM_000032.5(ALAS2):c.282A>G (p.Glu94=)
|
rs150313977
|
0.00815
|
NM_000032.5(ALAS2):c.824-15C>T
|
rs727467
|
0.00627
|
NM_001040436.3(YARS2):c.1103+18T>C
|
rs190343859
|
0.00622
|
NM_001271696.3(ABCB7):c.201G>C (p.Gln67His)
|
rs114142266
|
0.00447
|
NM_000032.5(ALAS2):c.*124C>T
|
rs145843014
|
0.00387
|
NM_001040436.3(YARS2):c.342C>T (p.Gly114=)
|
rs115606831
|
0.00371
|
NM_025215.6(PUS1):c.397G>A (p.Asp133Asn)
|
rs76655496
|
0.00371
|
NM_000032.5(ALAS2):c.1560C>A (p.Pro520=)
|
rs150055592
|
0.00362
|
NM_000032.5(ALAS2):c.1092G>A (p.Leu364=)
|
rs150494562
|
0.00357
|
NM_000032.5(ALAS2):c.1167T>G (p.Leu389=)
|
rs140584437
|
0.00356
|
NM_025215.6(PUS1):c.*253G>C
|
rs59879353
|
0.00343
|
NM_025215.6(PUS1):c.345C>T (p.Asp115=)
|
rs145798848
|
0.00332
|
NM_182916.3(TRNT1):c.231T>C (p.Asp77=)
|
rs114362638
|
0.00321
|
NM_017875.4(SLC25A38):c.382A>G (p.Met128Val)
|
rs146940902
|
0.00282
|
NM_001271696.3(ABCB7):c.938G>A (p.Arg313Gln)
|
rs147584361
|
0.00272
|
NM_025215.6(PUS1):c.1214C>T (p.Thr405Met)
|
rs149378338
|
0.00233
|
NM_025215.6(PUS1):c.22C>T (p.Leu8=)
|
rs139227671
|
0.00222
|
NM_001271696.3(ABCB7):c.1492G>A (p.Gly498Arg)
|
rs151288786
|
0.00187
|
NM_001040436.3(YARS2):c.456G>A (p.Ala152=)
|
rs201940521
|
0.00157
|
NM_001040436.3(YARS2):c.104C>A (p.Ala35Asp)
|
rs149447502
|
0.00151
|
NM_025215.6(PUS1):c.545-7C>T
|
rs201541270
|
0.00128
|
NM_000032.5(ALAS2):c.1559C>T (p.Pro520Leu)
|
rs201062903
|
0.00124
|
NM_182916.3(TRNT1):c.945C>T (p.Ile315=)
|
rs150742431
|
0.00100
|
NM_000032.5(ALAS2):c.1436G>A (p.Arg479Gln)
|
rs141305388
|
0.00077
|
NM_025215.6(PUS1):c.1008G>A (p.Glu336=)
|
rs145430883
|
0.00076
|
NM_182916.3(TRNT1):c.331A>G (p.Ile111Val)
|
rs149263693
|
0.00069
|
NM_025215.6(PUS1):c.1020C>T (p.Phe340=)
|
rs202059921
|
0.00061
|
NM_182916.3(TRNT1):c.67C>G (p.Pro23Ala)
|
rs183596892
|
0.00058
|
NM_001040436.3(YARS2):c.870T>C (p.Val290=)
|
rs142067801
|
0.00041
|
NM_000032.5(ALAS2):c.1107C>T (p.Gly369=)
|
rs368764287
|
0.00005
|
NM_001271696.3(ABCB7):c.211A>G (p.Lys71Glu)
|
rs201842753
|
0.00004
|
NM_182916.3(TRNT1):c.744T>C (p.Gly248=)
|
rs201105941
|
0.00004
|
NM_000032.5(ALAS2):c.1062C>G (p.Thr354=)
|
rs201740830
|
0.00003
|
NM_000032.5(ALAS2):c.1318G>C (p.Gly440Arg)
|
rs758646032
|
0.00002
|
NM_182916.3(TRNT1):c.105C>T (p.Pro35=)
|
rs368274081
|
0.00001
|
NM_000032.5(ALAS2):c.1321G>A (p.Glu441Lys)
|
rs760790600
|
|
NM_000032.5(ALAS2):c.1567C>T (p.His523Tyr)
|
rs199826743
|
|
NM_000032.5(ALAS2):c.231C>A (p.Leu77=)
|
rs760900782
|
|
NM_001040436.3(YARS2):c.*406C>T
|
rs145618550
|
|
NM_001271696.3(ABCB7):c.168+69C>G
|
rs1039123
|
|
NM_017875.4(SLC25A38):c.*212T>G
|
rs72867427
|
|
NM_017875.4(SLC25A38):c.*642del
|
rs34288981
|
|
NM_025215.6(PUS1):c.110C>G (p.Pro37Arg)
|
rs561744467
|
|
NM_182916.3(TRNT1):c.481+19dup
|
|
|
NM_182916.3(TRNT1):c.67_68delinsGT (p.Pro23Val)
|
rs1575035403
|
|
NM_182916.3(TRNT1):c.810_811insAAACTT (p.Pro270_Ala271insLysLeu)
|
rs527331900
|
|