NM_000032.4(ALAS2):c.-258C>G
|
rs140772352
|
0.00656
|
NM_182916.3(TRNT1):c.668T>C (p.Ile223Thr)
|
rs370011798
|
0.00008
|
NM_017875.4(SLC25A38):c.349C>T (p.Arg117Ter)
|
rs121918330
|
0.00005
|
NM_025215.6(PUS1):c.430C>T (p.Arg144Trp)
|
rs104894371
|
0.00003
|
NM_001040436.3(YARS2):c.1078C>T (p.Arg360Ter)
|
rs587777214
|
0.00002
|
NM_172002.5(HSCB):c.259dup (p.Thr87fs)
|
rs773607816
|
0.00002
|
NM_004134.7(HSPA9):c.409_410del (p.Asp136_Ile137insTer)
|
rs763817505
|
0.00001
|
NM_016417.3(GLRX5):c.294A>G (p.Gln98=)
|
rs121908584
|
0.00001
|
NM_016417.3(GLRX5):c.383T>A (p.Met128Lys)
|
rs891111781
|
0.00001
|
NM_016417.3(GLRX5):c.443T>C (p.Leu148Ser)
|
rs765487627
|
0.00001
|
NM_025215.6(PUS1):c.883C>T (p.Arg295Trp)
|
rs869025309
|
0.00001
|
NM_182916.3(TRNT1):c.461C>T (p.Thr154Ile)
|
rs606231290
|
0.00001
|
NC_012920.1:m.8969G>A
|
rs794726857
|
|
NM_000032.5(ALAS2):c.1163C>G (p.Thr388Ser)
|
rs137852300
|
|
NM_000032.5(ALAS2):c.1184G>A (p.Cys395Tyr)
|
rs137852307
|
|
NM_000032.5(ALAS2):c.1231C>T (p.Arg411Cys)
|
rs137852305
|
|
NM_000032.5(ALAS2):c.1354C>T (p.Arg452Cys)
|
rs137852311
|
|
NM_000032.5(ALAS2):c.1427T>A (p.Ile476Asn)
|
rs137852299
|
|
NM_000032.5(ALAS2):c.1570C>G (p.His524Asp)
|
rs137852309
|
|
NM_000032.5(ALAS2):c.1702A>G (p.Ser568Gly)
|
rs137852306
|
|
NM_000032.5(ALAS2):c.475G>A (p.Asp159Asn)
|
rs137852308
|
|
NM_000032.5(ALAS2):c.475G>T (p.Asp159Tyr)
|
rs137852308
|
|
NM_000032.5(ALAS2):c.495C>A (p.Phe165Leu)
|
rs137852301
|
|
NM_000032.5(ALAS2):c.569A>T (p.Asp190Val)
|
rs28935484
|
|
NM_000032.5(ALAS2):c.595T>C (p.Tyr199His)
|
rs137852310
|
|
NM_000032.5(ALAS2):c.871G>A (p.Gly291Ser)
|
rs137852302
|
|
NM_001040436.3(YARS2):c.1303A>G (p.Ser435Gly)
|
rs587777215
|
|
NM_001040436.3(YARS2):c.137G>A (p.Gly46Asp)
|
rs587777213
|
|
NM_001040436.3(YARS2):c.156C>G (p.Phe52Leu)
|
rs267607180
|
|
NM_001040436.3(YARS2):c.572G>A (p.Gly191Asp)
|
rs11539445
|
|
NM_001271696.3(ABCB7):c.1200T>G (p.Ile400Met)
|
rs72554634
|
|
NM_001271696.3(ABCB7):c.1231G>C (p.Val411Leu)
|
rs80356713
|
|
NM_001271696.3(ABCB7):c.1297G>A (p.Glu433Lys)
|
rs80356714
|
|
NM_004134.7(HSPA9):c.1373_1378del (p.Ile458_Asn459del)
|
rs869312659
|
|
NM_007194.2(CHEK2):c.-200C>T
|
rs551244874
|
|
NM_016417.3(GLRX5):c.200G>A (p.Cys67Tyr)
|
rs1891344853
|
|
NM_016417.3(GLRX5):c.301A>C (p.Lys101Gln)
|
rs869312752
|
|
NM_017875.4(SLC25A38):c.277-1G>A
|
rs869312029
|
|
NM_017875.4(SLC25A38):c.324_325del (p.Tyr109fs)
|
rs869320719
|
|
NM_017875.4(SLC25A38):c.560G>C (p.Arg187Pro)
|
rs121918331
|
|
NM_017875.4(SLC25A38):c.790A>T (p.Lys264Ter)
|
rs121918332
|
|
NM_025215.6(PUS1):c.658G>T (p.Glu220Ter)
|
rs104894372
|
|
NM_182915.3(STEAP3):c.330C>A (p.Cys110Ter)
|
rs587776963
|
|
NM_182916.3(TRNT1):c.1057-7C>G
|
rs368078167
|
|
NM_182916.3(TRNT1):c.1142_1143insATGT (p.Trp381Ter)
|
rs606231291
|
|
NM_182916.3(TRNT1):c.497T>C (p.Leu166Ser)
|
rs606231289
|
|
NM_182916.3(TRNT1):c.569G>T (p.Arg190Ile)
|
rs606231287
|
|