ClinVar Miner

List of variants studied for inherited sideroblastic anemia

Included ClinVar conditions (15):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 848
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HGVS dbSNP gnomAD frequency
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_012062.5(DNM1L):c.*271C>G rs1020670 0.15598
NM_012062.5(DNM1L):c.*1213G>T rs11052213 0.15596
NM_012062.5(DNM1L):c.*744A>T rs1971911 0.15585
NM_012062.5(DNM1L):c.*21G>C rs1059422 0.15548
NM_012062.5(DNM1L):c.*22A>T rs3200103 0.15544
NM_001040436.3(YARS2):c.*643G>A rs11052214 0.14502
NM_001040436.3(YARS2):c.291C>T (p.Gly97=) rs11539444 0.14354
NM_012062.5(DNM1L):c.*1242G>A rs10844336 0.14342
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_012062.5(DNM1L):c.*600C>T rs3600 0.08008
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_012062.5(DNM1L):c.*1415T>C rs114366772 0.01556
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_012062.5(DNM1L):c.*1156G>C rs148183516 0.01245
NM_017875.4(SLC25A38):c.-292G>A rs142441701 0.01159
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_000032.4(ALAS2):c.-258C>G rs140772352 0.00656
NM_000032.5(ALAS2):c.824-15C>T rs727467 0.00627
NM_001040436.3(YARS2):c.1103+18T>C rs190343859 0.00622
NM_017875.4(SLC25A38):c.*431G>A rs73058292 0.00540
NM_017875.4(SLC25A38):c.*809C>T rs71325527 0.00540
NM_001271696.3(ABCB7):c.201G>C (p.Gln67His) rs114142266 0.00447
NM_001271696.3(ABCB7):c.312C>T (p.Leu104=) rs140031135 0.00412
NM_025215.6(PUS1):c.*119C>T rs117705819 0.00401
NM_000032.5(ALAS2):c.*124C>T rs145843014 0.00387
NM_017875.4(SLC25A38):c.239C>G (p.Thr80Arg) rs144149294 0.00385
NM_004134.7(HSPA9):c.21T>G (p.Ala7=) rs36043650 0.00380
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_025215.6(PUS1):c.364C>A (p.Arg122=) rs142954643 0.00369
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_017875.4(SLC25A38):c.196A>G (p.Arg66Gly) rs34127778 0.00344
NM_025215.6(PUS1):c.*253G>C rs59879353 0.00343
NM_025215.6(PUS1):c.345C>T (p.Asp115=) rs145798848 0.00332
NM_025215.6(PUS1):c.999G>C (p.Leu333=) rs150359622 0.00323
NM_182916.3(TRNT1):c.231T>C (p.Asp77=) rs114362638 0.00321
NM_025215.6(PUS1):c.621G>A (p.Thr207=) rs142044204 0.00320
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_017875.4(SLC25A38):c.*304C>T rs113251543 0.00262
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_025215.6(PUS1):c.1197C>T (p.Phe399=) rs35461276 0.00193
NM_000032.5(ALAS2):c.1757A>T (p.Tyr586Phe) rs139596860 0.00189
NM_001271696.3(ABCB7):c.1492G>A (p.Gly498Arg) rs151288786 0.00187
NM_025215.5(PUS1):c.-453C>T rs551126678 0.00180
NM_001040436.3(YARS2):c.*469C>T rs182429712 0.00179
NM_000032.5(ALAS2):c.1676G>A (p.Arg559His) rs145704441 0.00158
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_017875.4(SLC25A38):c.11A>G (p.Asn4Ser) rs61995897 0.00151
NM_017875.4(SLC25A38):c.525G>C (p.Arg175=) rs149992222 0.00139
NM_001040436.3(YARS2):c.*126_*127del rs141873255 0.00137
NM_025215.6(PUS1):c.545-7C>T rs201541270 0.00128
NM_000032.5(ALAS2):c.1559C>T (p.Pro520Leu) rs201062903 0.00124
NM_017875.4(SLC25A38):c.-161G>A rs528990278 0.00120
NM_182916.3(TRNT1):c.809C>G (p.Pro270Arg) rs187921784 0.00106
NM_182916.3(TRNT1):c.945C>T (p.Ile315=) rs150742431 0.00100
NM_025215.6(PUS1):c.1140C>T (p.Thr380=) rs138198591 0.00098
NM_017875.4(SLC25A38):c.*490G>A rs150889211 0.00096
NM_001271696.3(ABCB7):c.1032+12A>G rs148980611 0.00087
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.862T>A (p.Phe288Ile) rs147986219 0.00071
NM_001040436.3(YARS2):c.*360A>G rs567955032 0.00069
NM_182916.3(TRNT1):c.331A>G (p.Ile111Val) rs149263693 0.00069
NM_017875.4(SLC25A38):c.12C>T (p.Asn4=) rs142420345 0.00064
NM_025215.6(PUS1):c.1020C>T (p.Phe340=) rs202059921 0.00061
NM_182916.3(TRNT1):c.1292T>C (p.Ile431Thr) rs150984011 0.00061
NM_182916.3(TRNT1):c.67C>G (p.Pro23Ala) rs183596892 0.00058
NM_017875.4(SLC25A38):c.*305G>A rs774462116 0.00056
NM_000032.5(ALAS2):c.653G>A (p.Arg218His) rs185504937 0.00052
NM_017875.4(SLC25A38):c.-237G>A rs527536267 0.00051
NM_001040436.3(YARS2):c.535A>C (p.Lys179Gln) rs147630375 0.00047
NM_000032.5(ALAS2):c.1718C>T (p.Ser573Phe) rs201799139 0.00046
NM_025215.6(PUS1):c.456C>G (p.Ala152=) rs369170782 0.00044
NM_001040436.3(YARS2):c.870T>C (p.Val290=) rs142067801 0.00041
NM_025215.6(PUS1):c.821G>A (p.Arg274Gln) rs138561555 0.00039
NM_025215.6(PUS1):c.987C>T (p.Pro329=) rs150880557 0.00038
NM_025215.6(PUS1):c.-244G>C rs886049091 0.00037
NM_182916.3(TRNT1):c.513T>C (p.Asn171=) rs190423145 0.00036
NM_182916.3(TRNT1):c.343-14G>A rs373630283 0.00034
NM_017875.4(SLC25A38):c.456+10A>G rs368989667 0.00033
NM_017875.4(SLC25A38):c.161G>A (p.Arg54His) rs144319567 0.00032
NM_000032.5(ALAS2):c.1244C>T (p.Ala415Val) rs143328343 0.00031
NM_000032.5(ALAS2):c.373A>G (p.Ile125Val) rs143995220 0.00030
NM_017875.4(SLC25A38):c.*547C>T rs559766369 0.00030
NM_017875.4(SLC25A38):c.302T>C (p.Val101Ala) rs141545606 0.00030
NM_017875.4(SLC25A38):c.-69C>T rs886058470 0.00029
NM_182916.3(TRNT1):c.462T>G (p.Thr154=) rs528296646 0.00029
NM_000032.5(ALAS2):c.-34C>T rs780642606 0.00028
NM_025215.6(PUS1):c.*152A>T rs188546423 0.00027
NM_017875.4(SLC25A38):c.-225G>A rs370977005 0.00025
NM_025215.6(PUS1):c.*164C>T rs554815640 0.00025
NM_025215.6(PUS1):c.1065G>T (p.Pro355=) rs147555676 0.00025
NM_182916.3(TRNT1):c.148+14A>G rs374743708 0.00025
NM_001271696.3(ABCB7):c.*113A>G rs916633787 0.00024
NM_182916.3(TRNT1):c.803-6C>T rs183382145 0.00024
NM_017875.4(SLC25A38):c.*549G>A rs189387075 0.00023
NM_001040436.3(YARS2):c.*24A>G rs368305831 0.00021
NM_182916.3(TRNT1):c.107A>T (p.Glu36Val) rs138682354 0.00021
NM_182916.3(TRNT1):c.1057-5C>T rs111642741 0.00019
NM_182916.3(TRNT1):c.383A>G (p.Asp128Gly) rs148398677 0.00019
NM_182916.3(TRNT1):c.482-16C>G rs200787934 0.00019
NM_025215.6(PUS1):c.*120G>A rs569395844 0.00017
NM_025215.6(PUS1):c.1076C>T (p.Ala359Val) rs142072030 0.00017
NM_182916.3(TRNT1):c.482-3dup rs766154756 0.00017
NM_025215.6(PUS1):c.*122C>T rs747836180 0.00016
NM_182916.3(TRNT1):c.787G>A (p.Val263Met) rs201873697 0.00014
NM_001040436.3(YARS2):c.934G>C (p.Asp312His) rs190043383 0.00013
NM_017875.4(SLC25A38):c.462G>A (p.Gly154=) rs369980078 0.00013
NM_001040436.3(YARS2):c.180G>A (p.Glu60=) rs137922867 0.00011
NM_001040436.3(YARS2):c.819A>G (p.Leu273=) rs149781186 0.00011
NM_017875.4(SLC25A38):c.*404G>A rs886058473 0.00011
NM_017875.4(SLC25A38):c.-227G>A rs886058468 0.00011
NM_017875.4(SLC25A38):c.199C>T (p.Arg67Cys) rs200791957 0.00011
NM_017875.4(SLC25A38):c.486C>T (p.Tyr162=) rs531290475 0.00011
NM_025215.6(PUS1):c.1266G>A (p.Gly422=) rs201441662 0.00011
NM_182916.3(TRNT1):c.148+17C>T rs200220844 0.00011
NM_182916.3(TRNT1):c.259A>G (p.Thr87Ala) rs140935012 0.00011
NM_182916.3(TRNT1):c.500T>C (p.Phe167Ser) rs145784140 0.00011
NM_000032.5(ALAS2):c.661G>A (p.Ala221Thr) rs753156183 0.00010
NM_001040436.3(YARS2):c.*142T>C rs190589666 0.00010
NM_025215.6(PUS1):c.111C>T (p.Pro37=) rs543944505 0.00010
NM_001040436.3(YARS2):c.*627A>T rs886049303 0.00009
NM_001040436.3(YARS2):c.202G>A (p.Gly68Ser) rs150304121 0.00009
NM_025215.6(PUS1):c.1166A>G (p.Gln389Arg) rs753674809 0.00009
NM_025215.6(PUS1):c.207C>G (p.Leu69=) rs140067992 0.00009
NM_025215.6(PUS1):c.904G>A (p.Val302Met) rs148057665 0.00009
NM_182916.3(TRNT1):c.668T>C (p.Ile223Thr) rs370011798 0.00008
NM_182916.3(TRNT1):c.982A>G (p.Lys328Glu) rs747469885 0.00008
NM_001040436.3(YARS2):c.751A>G (p.Ile251Val) rs372098364 0.00007
NM_017875.4(SLC25A38):c.626-5T>C rs767154505 0.00007
NM_025215.6(PUS1):c.287G>A (p.Gly96Asp) rs143828069 0.00007
NM_025215.6(PUS1):c.649G>A (p.Val217Ile) rs200591614 0.00007
NM_182916.3(TRNT1):c.1057-4G>A rs150530824 0.00007
NM_182916.3(TRNT1):c.682A>G (p.Lys228Glu) rs372627156 0.00007
NM_182916.3(TRNT1):c.848A>G (p.Lys283Arg) rs201174442 0.00007
NM_001040436.3(YARS2):c.*478G>A rs925773588 0.00006
NM_001040436.3(YARS2):c.810C>T (p.Thr270=) rs145906298 0.00006
NM_025215.6(PUS1):c.365G>A (p.Arg122Gln) rs199863621 0.00006
NM_025215.6(PUS1):c.972C>T (p.Asp324=) rs200065515 0.00006
NM_182916.3(TRNT1):c.1045T>G (p.Phe349Val) rs760473412 0.00006
NM_182916.3(TRNT1):c.1066C>T (p.Pro356Ser) rs375726663 0.00006
NM_182916.3(TRNT1):c.1081C>T (p.Arg361Cys) rs770721227 0.00006
NM_182916.3(TRNT1):c.149-19T>G rs3762748 0.00006
NM_182916.3(TRNT1):c.488A>T (p.Asp163Val) rs146717589 0.00006
NM_182916.3(TRNT1):c.667A>G (p.Ile223Val) rs376974085 0.00006
NM_000032.5(ALAS2):c.1107C>T (p.Gly369=) rs368764287 0.00005
NM_001040436.3(YARS2):c.477C>T (p.Phe159=) rs774325742 0.00005
NM_017875.4(SLC25A38):c.349C>T (p.Arg117Ter) rs121918330 0.00005
NM_025215.6(PUS1):c.1068G>A (p.Leu356=) rs201753270 0.00005
NM_025215.6(PUS1):c.564C>T (p.Gly188=) rs369250859 0.00005
NM_025215.6(PUS1):c.984G>A (p.Ala328=) rs143660941 0.00005
NM_182916.3(TRNT1):c.608+1G>T rs529290186 0.00005
NM_182916.3(TRNT1):c.697A>G (p.Ile233Val) rs377218988 0.00005
NM_182916.3(TRNT1):c.975T>C (p.Phe325=) rs372604723 0.00005
NM_000032.5(ALAS2):c.1532G>A (p.Arg511Gln) rs372675935 0.00004
NM_000032.5(ALAS2):c.416-11T>C rs977637650 0.00004
NM_001040436.3(YARS2):c.*595G>A rs961010458 0.00004
NM_001040436.3(YARS2):c.1241G>A (p.Arg414His) rs762786998 0.00004
NM_001040436.3(YARS2):c.933C>G (p.Asp311Glu) rs745595833 0.00004
NM_001271696.3(ABCB7):c.211A>G (p.Lys71Glu) rs201842753 0.00004
NM_017875.4(SLC25A38):c.*370C>T rs886058472 0.00004
NM_017875.4(SLC25A38):c.832C>T (p.Arg278Ter) rs147431446 0.00004
NM_025215.6(PUS1):c.-287G>C rs886049088 0.00004
NM_025215.6(PUS1):c.1134C>T (p.Ile378=) rs570364615 0.00004
NM_025215.6(PUS1):c.426C>T (p.Cys142=) rs554459931 0.00004
NM_025215.6(PUS1):c.643C>T (p.Arg215Trp) rs776342428 0.00004
NM_182916.3(TRNT1):c.1026A>G (p.Pro342=) rs767388512 0.00004
NM_182916.3(TRNT1):c.1246A>G (p.Lys416Glu) rs199931785 0.00004
NM_182916.3(TRNT1):c.149-5C>T rs200056840 0.00004
NM_182916.3(TRNT1):c.171C>T (p.His57=) rs760080058 0.00004
NM_182916.3(TRNT1):c.502G>T (p.Asp168Tyr) rs746543080 0.00004
NM_182916.3(TRNT1):c.538A>T (p.Lys180Ter) rs762873423 0.00004
NM_182916.3(TRNT1):c.567G>T (p.Gln189His) rs760683285 0.00004
NM_182916.3(TRNT1):c.630C>T (p.Asp210=) rs143629126 0.00004
NM_182916.3(TRNT1):c.744T>C (p.Gly248=) rs201105941 0.00004
NM_182916.3(TRNT1):c.759T>C (p.His253=) rs373038908 0.00004
NM_182916.3(TRNT1):c.829G>T (p.Glu277Ter) rs370699359 0.00004
NM_182916.3(TRNT1):c.88A>G (p.Met30Val) rs375274931 0.00004
NM_182916.3(TRNT1):c.900C>A (p.Phe300Leu) rs376431679 0.00004
NM_000032.5(ALAS2):c.1062C>G (p.Thr354=) rs201740830 0.00003
NM_017875.4(SLC25A38):c.*395G>A rs576792249 0.00003
NM_025215.6(PUS1):c.-246G>A rs886049090 0.00003
NM_025215.6(PUS1):c.-266G>C rs886049089 0.00003
NM_025215.6(PUS1):c.430C>T (p.Arg144Trp) rs104894371 0.00003
NM_025215.6(PUS1):c.75-5C>T rs1363622622 0.00003
NM_025215.6(PUS1):c.789C>G (p.Ile263Met) rs755760215 0.00003
NM_182916.3(TRNT1):c.1079C>T (p.Thr360Ile) rs776480350 0.00003
NM_182916.3(TRNT1):c.463A>G (p.Ile155Val) rs770395497 0.00003
NM_182916.3(TRNT1):c.482-9A>G rs766414708 0.00003
NM_182916.3(TRNT1):c.514G>A (p.Gly172Ser) rs1459323924 0.00003
NM_182916.3(TRNT1):c.780T>C (p.Asp260=) rs150433086 0.00003
NM_182916.3(TRNT1):c.826G>A (p.Glu276Lys) rs766270526 0.00003
NM_000032.5(ALAS2):c.1318G>C (p.Gly440Arg) rs758646032 0.00002
NM_000032.5(ALAS2):c.1638C>G (p.Pro546=) rs763266087 0.00002
NM_000032.5(ALAS2):c.652C>T (p.Arg218Cys) rs754772558 0.00002
NM_001040436.2(YARS2):c.-72C>G rs552674058 0.00002
NM_001040436.3(YARS2):c.1078C>T (p.Arg360Ter) rs587777214 0.00002
NM_001040436.3(YARS2):c.626A>G (p.Lys209Arg) rs541554381 0.00002
NM_001271696.3(ABCB7):c.1935+5G>C rs763223675 0.00002
NM_017875.4(SLC25A38):c.446C>T (p.Thr149Met) rs143865753 0.00002
NM_017875.4(SLC25A38):c.780A>G (p.Thr260=) rs763845960 0.00002
NM_025215.6(PUS1):c.127C>T (p.Pro43Ser) rs928144275 0.00002
NM_025215.6(PUS1):c.136C>T (p.Arg46Trp) rs765257355 0.00002
NM_025215.6(PUS1):c.216T>C (p.Gly72=) rs766451588 0.00002
NM_025215.6(PUS1):c.683C>T (p.Thr228Met) rs755448329 0.00002
NM_025215.6(PUS1):c.841G>A (p.Val281Met) rs776626629 0.00002
NM_172002.5(HSCB):c.259dup (p.Thr87fs) rs773607816 0.00002
NM_182916.3(TRNT1):c.1019del (p.Ser339_Ser340insTer) rs755536381 0.00002
NM_182916.3(TRNT1):c.1162G>A (p.Val388Ile) rs1006778318 0.00002
NM_182916.3(TRNT1):c.1190G>C (p.Gly397Ala) rs1427498466 0.00002
NM_182916.3(TRNT1):c.1278A>C (p.Glu426Asp) rs770832123 0.00002
NM_182916.3(TRNT1):c.184G>T (p.Ala62Ser) rs150902982 0.00002
NM_182916.3(TRNT1):c.193G>C (p.Ala65Pro) rs1354319879 0.00002
NM_182916.3(TRNT1):c.210A>C (p.Leu70Phe) rs750056889 0.00002
NM_182916.3(TRNT1):c.282G>A (p.Gln94=) rs527886866 0.00002
NM_182916.3(TRNT1):c.324C>T (p.His108=) rs773050420 0.00002
NM_182916.3(TRNT1):c.325G>A (p.Gly109Arg) rs765959111 0.00002
NM_182916.3(TRNT1):c.395A>G (p.Asp132Gly) rs773948765 0.00002
NM_182916.3(TRNT1):c.43C>T (p.Arg15Cys) rs766234875 0.00002
NM_182916.3(TRNT1):c.448C>T (p.Arg150Cys) rs747332169 0.00002
NM_182916.3(TRNT1):c.549T>G (p.Phe183Leu) rs774353592 0.00002
NM_182916.3(TRNT1):c.65T>G (p.Leu22Arg) rs191706901 0.00002
NM_182916.3(TRNT1):c.847A>G (p.Lys283Glu) rs749437475 0.00002
NM_182916.3(TRNT1):c.885T>C (p.Leu295=) rs747603797 0.00002
NM_000032.5(ALAS2):c.110G>A (p.Arg37His) rs756790340 0.00001
NM_000032.5(ALAS2):c.1335C>T (p.Ala445=) rs765603040 0.00001
NM_000032.5(ALAS2):c.1458C>T (p.Asn486=) rs772107960 0.00001
NM_000032.5(ALAS2):c.514G>A (p.Ala172Thr) rs137852304 0.00001
NM_001002019.2(PUS1):c.-149G>C rs1033621386 0.00001
NM_001040436.3(YARS2):c.*230A>G rs371690622 0.00001
NM_001040436.3(YARS2):c.234T>C (p.Cys78=) rs565102282 0.00001
NM_001040436.3(YARS2):c.634G>T (p.Glu212Ter) rs762813092 0.00001
NM_001040436.3(YARS2):c.917T>C (p.Phe306Ser) rs376934259 0.00001
NM_001271696.3(ABCB7):c.1230A>G (p.Leu410=) rs1175852840 0.00001
NM_001271696.3(ABCB7):c.168+13T>C rs1057515989 0.00001
NM_001271696.3(ABCB7):c.1802A>G (p.Gln601Arg) rs141119655 0.00001
NM_001271696.3(ABCB7):c.2066C>T (p.Thr689Ile) rs768257406 0.00001
NM_001271696.3(ABCB7):c.2073T>C (p.His691=) rs781524899 0.00001
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.314A>G (p.Asn105Ser) rs773847949 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_017875.4(SLC25A38):c.*381G>C rs2041837298 0.00001
NM_017875.4(SLC25A38):c.-325G>C rs886058467 0.00001
NM_017875.4(SLC25A38):c.277-2A>C rs1198314410 0.00001
NM_017875.4(SLC25A38):c.280A>G (p.Ile94Val) rs759315257 0.00001
NM_017875.4(SLC25A38):c.288A>G (p.Arg96=) rs765578993 0.00001
NM_017875.4(SLC25A38):c.389G>A (p.Gly130Glu) rs762562272 0.00001
NM_017875.4(SLC25A38):c.652A>T (p.Ile218Phe) rs764125735 0.00001
NM_017875.4(SLC25A38):c.683G>T (p.Gly228Val) rs755205622 0.00001
NM_017875.4(SLC25A38):c.913T>C (p.Ter305Arg) rs1218815001 0.00001
NM_025215.6(PUS1):c.*192T>C rs930371689 0.00001
NM_025215.6(PUS1):c.-80G>A rs1215451501 0.00001
NM_025215.6(PUS1):c.1135G>A (p.Gly379Ser) rs886049093 0.00001
NM_025215.6(PUS1):c.41G>A (p.Arg14Gln) rs146103500 0.00001
NM_025215.6(PUS1):c.638A>G (p.Lys213Arg) rs545204877 0.00001
NM_025215.6(PUS1):c.644G>A (p.Arg215Gln) rs745345996 0.00001
NM_025215.6(PUS1):c.717C>A (p.Tyr239Ter) rs779651314 0.00001
NM_025215.6(PUS1):c.725C>T (p.Thr242Met) rs886049092 0.00001
NM_025215.6(PUS1):c.883C>T (p.Arg295Trp) rs869025309 0.00001
NM_025215.6(PUS1):c.894C>T (p.Val298=) rs201908893 0.00001
NM_025215.6(PUS1):c.946C>T (p.Arg316Cys) rs573837941 0.00001
NM_025215.6(PUS1):c.966G>A (p.Lys322=) rs746905159 0.00001
NM_025215.6(PUS1):c.973G>A (p.Val325Met) rs1156671661 0.00001
NM_182916.3(TRNT1):c.1010del (p.Thr337fs) rs772805677 0.00001
NM_182916.3(TRNT1):c.1017T>C (p.Ser339=) rs1325737127 0.00001
NM_182916.3(TRNT1):c.1025C>T (p.Pro342Leu) rs1307103374 0.00001
NM_182916.3(TRNT1):c.1035C>T (p.Pro345=) rs199673739 0.00001
NM_182916.3(TRNT1):c.1054G>C (p.Asp352His) rs1170870898 0.00001
NM_182916.3(TRNT1):c.1056+12C>G rs376137909 0.00001
NM_182916.3(TRNT1):c.105C>T (p.Pro35=) rs368274081 0.00001
NM_182916.3(TRNT1):c.1073C>G (p.Ala358Gly) rs746690923 0.00001
NM_182916.3(TRNT1):c.1112A>G (p.Glu371Gly) rs1179943378 0.00001
NM_182916.3(TRNT1):c.1130A>T (p.Glu377Val) rs1050894893 0.00001
NM_182916.3(TRNT1):c.1144T>C (p.Ser382Pro) rs866447898 0.00001
NM_182916.3(TRNT1):c.1155A>G (p.Pro385=) rs779471673 0.00001
NM_182916.3(TRNT1):c.1235G>A (p.Arg412Gln) rs761145683 0.00001
NM_182916.3(TRNT1):c.1236A>G (p.Arg412=) rs1006625149 0.00001
NM_182916.3(TRNT1):c.1289A>T (p.Tyr430Phe) rs774429750 0.00001
NM_182916.3(TRNT1):c.1296G>A (p.Lys432=) rs1014393756 0.00001
NM_182916.3(TRNT1):c.1305A>C (p.Ter435Tyr) rs1312301408 0.00001
NM_182916.3(TRNT1):c.145A>G (p.Thr49Ala) rs1704830773 0.00001
NM_182916.3(TRNT1):c.149-16T>C rs766739333 0.00001
NM_182916.3(TRNT1):c.149-9T>C rs1705382741 0.00001
NM_182916.3(TRNT1):c.170A>G (p.His57Arg) rs1488255780 0.00001
NM_182916.3(TRNT1):c.172G>A (p.Glu58Lys) rs768028459 0.00001
NM_182916.3(TRNT1):c.1A>G (p.Met1Val) rs779568831 0.00001
NM_182916.3(TRNT1):c.218_219insGAGGGATTTATTAAATTATAAATTTATTAAATGGATTTATTAAA (p.Val73_Lys74insArgAspLeuLeuAsnTyrLysPheIleLysTrpIleTyrTer) rs746154279 0.00001
NM_182916.3(TRNT1):c.251C>G (p.Ala84Gly) rs976462533 0.00001
NM_182916.3(TRNT1):c.262C>G (p.Gln88Glu) rs1439134079 0.00001
NM_182916.3(TRNT1):c.27C>T (p.His9=) rs776254990 0.00001
NM_182916.3(TRNT1):c.284C>T (p.Ser95Leu) rs1287896952 0.00001
NM_182916.3(TRNT1):c.285G>A (p.Ser95=) rs768744806 0.00001
NM_182916.3(TRNT1):c.295C>T (p.Arg99Trp) rs759826831 0.00001
NM_182916.3(TRNT1):c.297G>A (p.Arg99=) rs1239457572 0.00001
NM_182916.3(TRNT1):c.298A>G (p.Met100Val) rs996280968 0.00001
NM_182916.3(TRNT1):c.31C>G (p.Pro11Ala) rs769556416 0.00001
NM_182916.3(TRNT1):c.320A>G (p.Lys107Arg) rs764696586 0.00001
NM_182916.3(TRNT1):c.322C>G (p.His108Asp) rs1159782126 0.00001
NM_182916.3(TRNT1):c.33_46del (p.Leu13fs) rs763685455 0.00001
NM_182916.3(TRNT1):c.342+11A>G rs779037398 0.00001
NM_182916.3(TRNT1):c.342+12G>T rs1202757381 0.00001
NM_182916.3(TRNT1):c.342+9A>G rs1235151154 0.00001
NM_182916.3(TRNT1):c.376C>T (p.Arg126Trp) rs780385153 0.00001
NM_182916.3(TRNT1):c.38T>C (p.Leu13Pro) rs762748487 0.00001
NM_182916.3(TRNT1):c.435G>A (p.Gln145=) rs753701052 0.00001
NM_182916.3(TRNT1):c.442dup (p.Ala148fs) rs1410048027 0.00001
NM_182916.3(TRNT1):c.449G>A (p.Arg150His) rs1012537748 0.00001
NM_182916.3(TRNT1):c.45T>C (p.Arg15=) rs759180902 0.00001
NM_182916.3(TRNT1):c.461C>T (p.Thr154Ile) rs606231290 0.00001
NM_182916.3(TRNT1):c.481+20C>T rs575404057 0.00001
NM_182916.3(TRNT1):c.482-14T>C rs1352587455 0.00001
NM_182916.3(TRNT1):c.482-20C>T rs773153767 0.00001
NM_182916.3(TRNT1):c.493A>G (p.Thr165Ala) rs754369247 0.00001
NM_182916.3(TRNT1):c.4C>T (p.Leu2=) rs559472880 0.00001
NM_182916.3(TRNT1):c.505T>C (p.Tyr169His) rs1705867660 0.00001
NM_182916.3(TRNT1):c.557A>T (p.His186Leu) rs1433500811 0.00001
NM_182916.3(TRNT1):c.609-18G>A rs758866961 0.00001
NM_182916.3(TRNT1):c.609-26T>C rs876661299 0.00001
NM_182916.3(TRNT1):c.622_623del (p.Ile208fs) rs1259648157 0.00001
NM_182916.3(TRNT1):c.638G>C (p.Gly213Ala) rs745817126 0.00001
NM_182916.3(TRNT1):c.716G>C (p.Trp239Ser) rs753464075 0.00001
NM_182916.3(TRNT1):c.748C>G (p.His250Asp) rs1453297459 0.00001
NM_182916.3(TRNT1):c.74A>C (p.Gln25Pro) rs764391872 0.00001
NM_182916.3(TRNT1):c.750T>C (p.His250=) rs996651581 0.00001
NM_182916.3(TRNT1):c.763A>G (p.Ile255Val) rs776889080 0.00001
NM_182916.3(TRNT1):c.781C>A (p.Leu261Ile) rs116700675 0.00001
NM_182916.3(TRNT1):c.808C>T (p.Pro270Ser) rs776704386 0.00001
NM_182916.3(TRNT1):c.818C>G (p.Ala273Gly) rs1489444334 0.00001
NM_182916.3(TRNT1):c.833T>G (p.Phe278Cys) rs1424196039 0.00001
NM_182916.3(TRNT1):c.886T>G (p.Leu296Val) rs374592904 0.00001
NM_182916.3(TRNT1):c.933G>A (p.Leu311=) rs1575066937 0.00001
NM_182916.3(TRNT1):c.93G>A (p.Lys31=) rs141005872 0.00001
NM_182916.3(TRNT1):c.946G>A (p.Ala316Thr) rs753967295 0.00001
NC_000003.11:g.(?_3170725)_(3189838_?)del
NC_000003.11:g.(?_3170725)_(3189838_?)dup
NC_000003.11:g.(?_3179743)_(3189406_?)del
NC_000003.11:g.(?_3186248)_(3189838_?)del
NC_000003.12:g.(?_3129021)_(3148174_?)dup
NC_012920.1:m.8969G>A rs794726857
NM_000032.5(ALAS2):c.-15-1829T>C
NM_000032.5(ALAS2):c.-15-2188A>G
NM_000032.5(ALAS2):c.-16+6A>G rs1935989193
NM_000032.5(ALAS2):c.1007C>A (p.Ala336Asp) rs1935687757
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.1321G>A (p.Glu441Lys) rs760790600
NM_000032.5(ALAS2):c.1354C>T (p.Arg452Cys) rs137852311
NM_000032.5(ALAS2):c.1382T>A (p.Leu461His) rs1935671225
NM_000032.5(ALAS2):c.1427T>A (p.Ile476Asn) rs137852299
NM_000032.5(ALAS2):c.1500T>C (p.Tyr500=) rs1602244633
NM_000032.5(ALAS2):c.1567C>T (p.His523Tyr) rs199826743
NM_000032.5(ALAS2):c.1570C>G (p.His524Asp) rs137852309
NM_000032.5(ALAS2):c.1571A>G (p.His524Arg) rs2146715075
NM_000032.5(ALAS2):c.1702A>G (p.Ser568Gly) rs137852306
NM_000032.5(ALAS2):c.231C>A (p.Leu77=) rs760900782
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.488G>A (p.Arg163His) rs2146722839
NM_000032.5(ALAS2):c.495C>A (p.Phe165Leu) rs137852301
NM_000032.5(ALAS2):c.508C>A (p.Arg170Ser) rs1557248142
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.741C>T (p.His247=) rs1057515971
NM_000032.5(ALAS2):c.871G>A (p.Gly291Ser) rs137852302
NM_000487.6(ARSA):c.947C>A (p.Ala316Asp) rs1569078754
NM_001040436.2(YARS2):c.-31A>G rs557243101
NM_001040436.3(YARS2):c.*377G>A rs1955646004
NM_001040436.3(YARS2):c.*406C>T rs145618550
NM_001040436.3(YARS2):c.*62G>A rs527443669
NM_001040436.3(YARS2):c.1104-16dup rs761612441
NM_001040436.3(YARS2):c.1241G>T (p.Arg414Leu)
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.1427A>G (p.Gln476Arg) rs1955656296
NM_001040436.3(YARS2):c.156C>G (p.Phe52Leu) rs267607180
NM_001040436.3(YARS2):c.30C>T (p.Ser10=) rs886049305
NM_001040436.3(YARS2):c.327C>G (p.Ile109Met) rs886049304
NM_001040436.3(YARS2):c.359dup (p.Asp121fs) rs797045077
NM_001040436.3(YARS2):c.572G>A (p.Gly191Asp) rs11539445
NM_001040436.3(YARS2):c.7G>A (p.Ala3Thr) rs772348768
NM_001040436.3(YARS2):c.930G>A (p.Pro310=) rs147551647
NM_001040436.3(YARS2):c.98C>A (p.Ser33Ter)
NM_001271696.3(ABCB7):c.1106A>G (p.Lys369Arg)
NM_001271696.3(ABCB7):c.1200T>C (p.Ile400=) rs72554634
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.1235T>C (p.Met412Thr) rs1057518042
NM_001271696.3(ABCB7):c.1297G>A (p.Glu433Lys) rs80356714
NM_001271696.3(ABCB7):c.168+69C>G rs1039123
NM_001271696.3(ABCB7):c.1936-3C>G rs1602330362
NM_001271696.3(ABCB7):c.358A>G (p.Ile120Val)
NM_001271696.3(ABCB7):c.624A>T (p.Glu208Asp) rs515726147
NM_001271696.3(ABCB7):c.944+3A>G rs2081385144
NM_004134.7(HSPA9):c.1373_1378del (p.Ile458_Asn459del) rs869312659
NM_007194.2(CHEK2):c.-200C>T rs551244874
NM_012062.5(DNM1L):c.*393A>C rs77298476
NM_016417.3(GLRX5):c.200G>A (p.Cys67Tyr) rs1891344853
NM_016417.3(GLRX5):c.301A>C (p.Lys101Gln) rs869312752
NM_016417.3(GLRX5):c.322A>G (p.Thr108Ala) rs1891515868
NM_017875.4(SLC25A38):c.*212T>G rs72867427
NM_017875.4(SLC25A38):c.*548G>A rs531997173
NM_017875.4(SLC25A38):c.*642del rs34288981
NM_017875.4(SLC25A38):c.*718G>A rs2041842608
NM_017875.4(SLC25A38):c.-15C>A rs1373209338
NM_017875.4(SLC25A38):c.-219T>C rs886058469
NM_017875.4(SLC25A38):c.-273G>A rs184769974
NM_017875.4(SLC25A38):c.-39G>C rs375182491
NM_017875.4(SLC25A38):c.166C>A (p.Gln56Lys) rs866266558
NM_017875.4(SLC25A38):c.175C>T (p.Gln59Ter) rs2125577893
NM_017875.4(SLC25A38):c.207_214del (p.Met70fs) rs2125578591
NM_017875.4(SLC25A38):c.227_236del (p.Lys76fs) rs2125578633
NM_017875.4(SLC25A38):c.260G>A (p.Trp87Ter) rs2125578710
NM_017875.4(SLC25A38):c.276+1G>A rs2125578753
NM_017875.4(SLC25A38):c.276+1G>T rs2125578753
NM_017875.4(SLC25A38):c.277-1G>A rs869312029
NM_017875.4(SLC25A38):c.281T>A (p.Ile94Asn) rs762067787
NM_017875.4(SLC25A38):c.305G>A (p.Gly102Glu) rs2125579714
NM_017875.4(SLC25A38):c.324_325del (p.Tyr109fs) rs869320719
NM_017875.4(SLC25A38):c.324_330del (p.Leu108_Tyr109insTer) rs2125579746
NM_017875.4(SLC25A38):c.336_346del (p.Lys112fs) rs1301033567
NM_017875.4(SLC25A38):c.362del (p.Pro121fs) rs2125579866
NM_017875.4(SLC25A38):c.388G>A (p.Gly130Arg) rs2125579946
NM_017875.4(SLC25A38):c.400C>T (p.Arg134Cys) rs1293528130
NM_017875.4(SLC25A38):c.401G>A (p.Arg134His) rs2041767822
NM_017875.4(SLC25A38):c.409dup (p.Ala137fs) rs2041767936
NM_017875.4(SLC25A38):c.429_431delinsAG (p.Ile144fs) rs2125580030
NM_017875.4(SLC25A38):c.440T>A (p.Ile147Asn) rs2041768572
NM_017875.4(SLC25A38):c.457-1G>T rs1448237170
NM_017875.4(SLC25A38):c.469G>C (p.Gly157Arg) rs772425489
NM_017875.4(SLC25A38):c.475del (p.Glu159fs) rs2041773742
NM_017875.4(SLC25A38):c.480dup (p.Ile161fs) rs2125580393
NM_017875.4(SLC25A38):c.528C>A (p.Gly176=) rs2041775190
NM_017875.4(SLC25A38):c.560G>A (p.Arg187Gln) rs121918331
NM_017875.4(SLC25A38):c.560G>C (p.Arg187Pro) rs121918331
NM_017875.4(SLC25A38):c.562G>C (p.Asp188His) rs2125580560
NM_017875.4(SLC25A38):c.569C>G (p.Pro190Arg) rs2125580580
NM_017875.4(SLC25A38):c.570C>A (p.Pro190=) rs886058471
NM_017875.4(SLC25A38):c.587T>C (p.Leu196Pro) rs2125580600
NM_017875.4(SLC25A38):c.625G>A (p.Asp209Asn) rs146864395
NM_017875.4(SLC25A38):c.625G>C (p.Asp209His) rs146864395
NM_017875.4(SLC25A38):c.626-2A>T rs2125582750
NM_017875.4(SLC25A38):c.669_682del (p.Cys223fs) rs781372292
NM_017875.4(SLC25A38):c.671_672insT (p.Ile225fs) rs1575247302
NM_017875.4(SLC25A38):c.672delinsTT (p.Ile225fs) rs2125582823
NM_017875.4(SLC25A38):c.689T>C (p.Leu230Pro) rs2125582841
NM_017875.4(SLC25A38):c.70-2A>C rs1233124208
NM_017875.4(SLC25A38):c.790A>T (p.Lys264Ter) rs121918332
NM_017875.4(SLC25A38):c.792+5G>C rs2125582986
NM_017875.4(SLC25A38):c.793-1G>C
NM_017875.4(SLC25A38):c.809dup (p.Phe271fs) rs2125584589
NM_017875.4(SLC25A38):c.832C>G (p.Arg278Gly) rs147431446
NM_017875.4(SLC25A38):c.858del (p.Ala287fs) rs2125584640
NM_017875.4(SLC25A38):c.85A>G (p.Lys29Glu)
NM_017875.4(SLC25A38):c.879T>G (p.Tyr293Ter) rs1156987118
NM_025215.6(PUS1):c.-151G>A rs1890481878
NM_025215.6(PUS1):c.-424C>T rs1890465624
NM_025215.6(PUS1):c.1065G>A (p.Pro355=) rs147555676
NM_025215.6(PUS1):c.107_122del (p.Pro36fs)
NM_025215.6(PUS1):c.107_122dup (p.Cys42fs)
NM_025215.6(PUS1):c.110C>G (p.Pro37Arg) rs561744467
NM_025215.6(PUS1):c.1122C>G (p.Tyr374Ter) rs779193823
NM_025215.6(PUS1):c.1129A>G (p.Ile377Val) rs200292016
NM_025215.6(PUS1):c.1237-2A>G
NM_025215.6(PUS1):c.130dup (p.Gln44fs)
NM_025215.6(PUS1):c.178del (p.Glu60fs)
NM_025215.6(PUS1):c.190C>T (p.His64Tyr) rs770669291
NM_025215.6(PUS1):c.418C>T (p.Gln140Ter)
NM_025215.6(PUS1):c.423C>A (p.Arg141=) rs371752870
NM_025215.6(PUS1):c.442-1G>T
NM_025215.6(PUS1):c.454dup (p.Ala152fs) rs1555268564
NM_025215.6(PUS1):c.45G>A (p.Trp15Ter) rs895175332
NM_025215.6(PUS1):c.460C>T (p.Gln154Ter)
NM_025215.6(PUS1):c.517C>T (p.His173Tyr)
NM_025215.6(PUS1):c.517del (p.His173fs)
NM_025215.6(PUS1):c.545-1G>A
NM_025215.6(PUS1):c.545-5C>A rs376656565
NM_025215.6(PUS1):c.658G>T (p.Glu220Ter) rs104894372
NM_025215.6(PUS1):c.679G>A (p.Glu227Lys)
NM_025215.6(PUS1):c.70_74dup (p.Ser26fs)
NM_025215.6(PUS1):c.737A>G (p.His246Arg) rs1891063731
NM_025215.6(PUS1):c.813del (p.Phe272fs) rs1566148136
NM_025215.6(PUS1):c.877C>T (p.Gln293Ter)
NM_025215.6(PUS1):c.884G>A (p.Arg295Gln)
NM_025215.6(PUS1):c.893_896del (p.Val298fs)
NM_025215.6(PUS1):c.916A>T (p.Lys306Ter)
NM_025215.6(PUS1):c.929del (p.Pro310fs)
NM_025215.6(PUS1):c.937G>A (p.Val313Met) rs140088613
NM_182915.3(STEAP3):c.330C>A (p.Cys110Ter) rs587776963
NM_182916.3(TRNT1):c.*2del (p.Ter435=) rs2126038625
NM_182916.3(TRNT1):c.1010C>A (p.Thr337Lys) rs1706134057
NM_182916.3(TRNT1):c.1012_1013del (p.Thr337_Asp338insTer)
NM_182916.3(TRNT1):c.1013A>G (p.Asp338Gly)
NM_182916.3(TRNT1):c.1013_1016del (p.Asp338fs)
NM_182916.3(TRNT1):c.1013_1016dup (p.Ser339delinsArgTer)
NM_182916.3(TRNT1):c.1021G>A (p.Asp341Asn) rs2126037069
NM_182916.3(TRNT1):c.1023C>T (p.Asp341=)
NM_182916.3(TRNT1):c.1027T>C (p.Leu343=)
NM_182916.3(TRNT1):c.1034C>T (p.Pro345Leu)
NM_182916.3(TRNT1):c.1038_1041dup (p.Asp348fs) rs1706137764
NM_182916.3(TRNT1):c.1043A>G (p.Asp348Gly) rs2126037130
NM_182916.3(TRNT1):c.1047C>T (p.Phe349=)
NM_182916.3(TRNT1):c.1051A>G (p.Ile351Val)
NM_182916.3(TRNT1):c.1052T>A (p.Ile351Lys) rs2126037168
NM_182916.3(TRNT1):c.1053_1054insT (p.Asp352Ter) rs2126037181
NM_182916.3(TRNT1):c.1055_1056+5del rs770760147
NM_182916.3(TRNT1):c.1056+13T>G
NM_182916.3(TRNT1):c.1056+14A>T
NM_182916.3(TRNT1):c.1056+1G>A rs369179242
NM_182916.3(TRNT1):c.1056+1G>T
NM_182916.3(TRNT1):c.1056+3A>C
NM_182916.3(TRNT1):c.1056+4_1056+7dup rs759496973
NM_182916.3(TRNT1):c.1056+6T>C
NM_182916.3(TRNT1):c.1056+6TA[2] rs1706140312
NM_182916.3(TRNT1):c.1057-16T>G
NM_182916.3(TRNT1):c.1057-7C>G rs368078167
NM_182916.3(TRNT1):c.1057-7C>T rs368078167
NM_182916.3(TRNT1):c.1057-8A>G
NM_182916.3(TRNT1):c.1068T>C (p.Pro356=)
NM_182916.3(TRNT1):c.106G>A (p.Glu36Lys) rs1480255948
NM_182916.3(TRNT1):c.1078A>G (p.Thr360Ala)
NM_182916.3(TRNT1):c.1078A>T (p.Thr360Ser)
NM_182916.3(TRNT1):c.107A>G (p.Glu36Gly) rs138682354
NM_182916.3(TRNT1):c.1082G>A (p.Arg361His) rs527881651
NM_182916.3(TRNT1):c.1082G>T (p.Arg361Leu) rs527881651
NM_182916.3(TRNT1):c.1088G>C (p.Cys363Ser) rs773206803
NM_182916.3(TRNT1):c.1107A>G (p.Gln369=)
NM_182916.3(TRNT1):c.1110A>G (p.Gly370=) rs1706172038
NM_182916.3(TRNT1):c.1125A>G (p.Leu375=) rs2126038121
NM_182916.3(TRNT1):c.112C>G (p.Gln38Glu) rs1704825513
NM_182916.3(TRNT1):c.1135C>G (p.Gln379Glu)
NM_182916.3(TRNT1):c.1142_1143insATGT (p.Trp381Ter) rs606231291
NM_182916.3(TRNT1):c.1146C>T (p.Ser382=)
NM_182916.3(TRNT1):c.114G>C (p.Gln38His) rs2126002222
NM_182916.3(TRNT1):c.1150_1157del (p.Pro384fs)
NM_182916.3(TRNT1):c.1163dup (p.Ser389fs)
NM_182916.3(TRNT1):c.1167T>C (p.Ser389=)
NM_182916.3(TRNT1):c.1178T>A (p.Ile393Asn)
NM_182916.3(TRNT1):c.1178_1184del (p.Ile393fs) rs2126038227
NM_182916.3(TRNT1):c.1182A>T (p.Arg394Ser) rs2126038235
NM_182916.3(TRNT1):c.1183A>G (p.Lys395Glu) rs2126038239
NM_182916.3(TRNT1):c.1187T>C (p.Val396Ala)
NM_182916.3(TRNT1):c.118C>G (p.Leu40Val) rs908960894
NM_182916.3(TRNT1):c.1190del (p.Gly397fs) rs2126038249
NM_182916.3(TRNT1):c.1205A>G (p.Lys402Arg)
NM_182916.3(TRNT1):c.1205_1206dup (p.Glu403fs) rs1449106096
NM_182916.3(TRNT1):c.120T>G (p.Leu40=)
NM_182916.3(TRNT1):c.1211T>C (p.Ile404Thr) rs1706181879
NM_182916.3(TRNT1):c.1213G>A (p.Gly405Arg)
NM_182916.3(TRNT1):c.1213G>C (p.Gly405Arg)
NM_182916.3(TRNT1):c.1219C>T (p.Leu407=) rs1315353435
NM_182916.3(TRNT1):c.1223T>C (p.Leu408Ser)
NM_182916.3(TRNT1):c.1224ACA[3] (p.Gln410dup) rs2126038336
NM_182916.3(TRNT1):c.1225C>G (p.Gln409Glu)
NM_182916.3(TRNT1):c.1228C>T (p.Gln410Ter)
NM_182916.3(TRNT1):c.1234C>T (p.Arg412Ter)
NM_182916.3(TRNT1):c.1237G>A (p.Glu413Lys)
NM_182916.3(TRNT1):c.1240C>G (p.Gln414Glu) rs764603508
NM_182916.3(TRNT1):c.1247A>G (p.Lys416Arg) rs2126038415
NM_182916.3(TRNT1):c.1249A>G (p.Lys417Glu) rs751047325
NM_182916.3(TRNT1):c.1252_1253insT (p.Ser418fs) rs1706186945
NM_182916.3(TRNT1):c.1252del (p.Ser418fs) rs876661298
NM_182916.3(TRNT1):c.1252dup (p.Ser418fs) rs876661298
NM_182916.3(TRNT1):c.1260C>A (p.Tyr420Ter)
NM_182916.3(TRNT1):c.1269A>C (p.Glu423Asp) rs777580759
NM_182916.3(TRNT1):c.1274A>G (p.Asp425Gly) rs146766859
NM_182916.3(TRNT1):c.1274A>T (p.Asp425Val) rs146766859
NM_182916.3(TRNT1):c.1276G>C (p.Glu426Gln)
NM_182916.3(TRNT1):c.1281T>C (p.Leu427=) rs2126038514
NM_182916.3(TRNT1):c.1281_1283dup (p.Leu428_Ser429insLeu)
NM_182916.3(TRNT1):c.1283T>C (p.Leu428Pro) rs2126038533
NM_182916.3(TRNT1):c.1284G>T (p.Leu428=) rs2126038544
NM_182916.3(TRNT1):c.1284_1287dup (p.Tyr430fs) rs1559232394
NM_182916.3(TRNT1):c.1286G>T (p.Ser429Ile) rs2126038555
NM_182916.3(TRNT1):c.128_130del (p.Glu43del) rs876661297
NM_182916.3(TRNT1):c.1290_1291insTTTAA (p.Ile431fs)
NM_182916.3(TRNT1):c.1291A>G (p.Ile431Val) rs142642881
NM_182916.3(TRNT1):c.1295AGA[1] (p.Lys433del) rs1575068543
NM_182916.3(TRNT1):c.1296G>T (p.Lys432Asn)
NM_182916.3(TRNT1):c.12C>T (p.Cys4=)
NM_182916.3(TRNT1):c.1300A>T (p.Thr434Ser)
NM_182916.3(TRNT1):c.140_141delinsTC (p.Ser47Ile)
NM_182916.3(TRNT1):c.148+12G>A rs1342768108
NM_182916.3(TRNT1):c.148+15T>C rs2126002342
NM_182916.3(TRNT1):c.148+20_148+29del
NM_182916.3(TRNT1):c.148+3G>A rs1575035691
NM_182916.3(TRNT1):c.148+7G>A
NM_182916.3(TRNT1):c.149-10C>G rs1247543296
NM_182916.3(TRNT1):c.149-6_149-2del
NM_182916.3(TRNT1):c.151T>A (p.Leu51Ile)
NM_182916.3(TRNT1):c.151_160del (p.Leu51fs)
NM_182916.3(TRNT1):c.155T>C (p.Phe52Ser) rs1705383984
NM_182916.3(TRNT1):c.15G>A (p.Leu5=)
NM_182916.3(TRNT1):c.165G>T (p.Glu55Asp)
NM_182916.3(TRNT1):c.168T>C (p.Asn56=)
NM_182916.3(TRNT1):c.171C>A (p.His57Gln) rs760080058
NM_182916.3(TRNT1):c.176_182del (p.Glu58_Leu59insTer)
NM_182916.3(TRNT1):c.179G>C (p.Arg60Thr)
NM_182916.3(TRNT1):c.179G>T (p.Arg60Ile) rs1283386278
NM_182916.3(TRNT1):c.182T>G (p.Ile61Arg) rs2126017364
NM_182916.3(TRNT1):c.185C>G (p.Ala62Gly) rs1430870230
NM_182916.3(TRNT1):c.198G>A (p.Val66=) rs2126017403
NM_182916.3(TRNT1):c.208T>G (p.Leu70Val) rs1705387323
NM_182916.3(TRNT1):c.212A>G (p.Asn71Ser)
NM_182916.3(TRNT1):c.215G>C (p.Gly72Ala) rs1267775202
NM_182916.3(TRNT1):c.222G>A (p.Lys74=)
NM_182916.3(TRNT1):c.233T>C (p.Ile78Thr) rs1553553306
NM_182916.3(TRNT1):c.234A>G (p.Ile78Met) rs2126017445
NM_182916.3(TRNT1):c.240del (p.Phe80fs) rs1297648080
NM_182916.3(TRNT1):c.250G>C (p.Ala84Pro) rs781277263
NM_182916.3(TRNT1):c.261T>C (p.Thr87=)
NM_182916.3(TRNT1):c.263_266del (p.Gln88fs) rs772722561
NM_182916.3(TRNT1):c.264A>G (p.Gln88=) rs1705392118
NM_182916.3(TRNT1):c.270G>A (p.Lys90=)
NM_182916.3(TRNT1):c.277T>A (p.Phe93Ile) rs2126017533
NM_182916.3(TRNT1):c.27C>G (p.His9Gln)
NM_182916.3(TRNT1):c.282G>T (p.Gln94His) rs527886866
NM_182916.3(TRNT1):c.285G>T (p.Ser95=)
NM_182916.3(TRNT1):c.288T>C (p.Ala96=) rs2126017561
NM_182916.3(TRNT1):c.293T>G (p.Ile98Ser)
NM_182916.3(TRNT1):c.296G>A (p.Arg99Gln) rs1392135239
NM_182916.3(TRNT1):c.31C>T (p.Pro11Ser)
NM_182916.3(TRNT1):c.324_330del (p.His108fs) rs776199133
NM_182916.3(TRNT1):c.335C>G (p.Thr112Ser)
NM_182916.3(TRNT1):c.339C>T (p.Ala113=) rs2126017687
NM_182916.3(TRNT1):c.342+10A>C rs771121037
NM_182916.3(TRNT1):c.342+17A>T rs1705398977
NM_182916.3(TRNT1):c.342+1G>T
NM_182916.3(TRNT1):c.342+20G>C
NM_182916.3(TRNT1):c.343-16A>G
NM_182916.3(TRNT1):c.343-20C>G
NM_182916.3(TRNT1):c.343-69_343-8del
NM_182916.3(TRNT1):c.348T>G (p.His116Gln) rs1705578519
NM_182916.3(TRNT1):c.361G>A (p.Glu121Lys) rs2126022941
NM_182916.3(TRNT1):c.368C>G (p.Thr123Ser) rs1278148249
NM_182916.3(TRNT1):c.36G>A (p.Val12=) rs1704814779
NM_182916.3(TRNT1):c.373del (p.Leu125fs) rs1553554007
NM_182916.3(TRNT1):c.384T>C (p.Asp128=) rs2126023030
NM_182916.3(TRNT1):c.389C>G (p.Thr130Ser) rs1705581594
NM_182916.3(TRNT1):c.391A>G (p.Thr131Ala)
NM_182916.3(TRNT1):c.395A>C (p.Asp132Ala) rs773948765
NM_182916.3(TRNT1):c.398G>T (p.Gly133Val) rs759253937
NM_182916.3(TRNT1):c.403C>T (p.His135Tyr) rs752478909
NM_182916.3(TRNT1):c.410A>C (p.Glu137Ala) rs1705583571
NM_182916.3(TRNT1):c.412G>A (p.Val138Ile) rs907649149
NM_182916.3(TRNT1):c.414A>T (p.Val138=)
NM_182916.3(TRNT1):c.422C>T (p.Thr141Ile) rs1276258304
NM_182916.3(TRNT1):c.428_431del (p.Asp143fs) rs1401711549
NM_182916.3(TRNT1):c.433C>T (p.Gln145Ter)
NM_182916.3(TRNT1):c.435G>T (p.Gln145His)
NM_182916.3(TRNT1):c.443C>G (p.Ala148Gly)
NM_182916.3(TRNT1):c.443C>T (p.Ala148Val) rs761516140
NM_182916.3(TRNT1):c.444G>A (p.Ala148=)
NM_182916.3(TRNT1):c.460A>C (p.Thr154Pro) rs1233701431
NM_182916.3(TRNT1):c.462T>C (p.Thr154=) rs528296646
NM_182916.3(TRNT1):c.472A>G (p.Met158Val) rs771781629
NM_182916.3(TRNT1):c.478T>C (p.Leu160=)
NM_182916.3(TRNT1):c.481+15T>C
NM_182916.3(TRNT1):c.481+19dup
NM_182916.3(TRNT1):c.481+4A>G
NM_182916.3(TRNT1):c.481+5T>C rs761643814
NM_182916.3(TRNT1):c.482-4A>G
NM_182916.3(TRNT1):c.482-5A>G rs879788444
NM_182916.3(TRNT1):c.482-7T>C
NM_182916.3(TRNT1):c.482-8A>G rs1375077738
NM_182916.3(TRNT1):c.482-9A>C
NM_182916.3(TRNT1):c.484T>C (p.Phe162Leu) rs965848707
NM_182916.3(TRNT1):c.497T>C (p.Leu166Ser) rs606231289
NM_182916.3(TRNT1):c.498_501del (p.Phe167fs) rs754883449
NM_182916.3(TRNT1):c.499T>C (p.Phe167Leu) rs2126031119
NM_182916.3(TRNT1):c.501dup (p.Asp168Ter) rs1445182754
NM_182916.3(TRNT1):c.502G>C (p.Asp168His) rs746543080
NM_182916.3(TRNT1):c.509T>C (p.Phe170Ser)
NM_182916.3(TRNT1):c.510T>A (p.Phe170Leu) rs371733557
NM_182916.3(TRNT1):c.512dup (p.Asn171fs)
NM_182916.3(TRNT1):c.522A>G (p.Glu174=)
NM_182916.3(TRNT1):c.530A>G (p.Lys177Arg) rs1705869749
NM_182916.3(TRNT1):c.542_545del (p.Val181fs) rs769317780
NM_182916.3(TRNT1):c.544_545insAA (p.Arg182fs)
NM_182916.3(TRNT1):c.545G>A (p.Arg182Lys)
NM_182916.3(TRNT1):c.545G>C (p.Arg182Thr)
NM_182916.3(TRNT1):c.54T>C (p.Ser18=)
NM_182916.3(TRNT1):c.550G>A (p.Val184Ile) rs1705871121
NM_182916.3(TRNT1):c.555A>C (p.Gly185=)
NM_182916.3(TRNT1):c.556C>T (p.His186Tyr)
NM_182916.3(TRNT1):c.567G>A (p.Gln189=)
NM_182916.3(TRNT1):c.569G>T (p.Arg190Ile) rs606231287
NM_182916.3(TRNT1):c.569_570del (p.Arg190fs)
NM_182916.3(TRNT1):c.578A>G (p.Glu193Gly)
NM_182916.3(TRNT1):c.581A>G (p.Asp194Gly) rs754316396
NM_182916.3(TRNT1):c.586C>G (p.Leu196Val)
NM_182916.3(TRNT1):c.592A>C (p.Ile198Leu) rs757780903
NM_182916.3(TRNT1):c.598A>C (p.Arg200=)
NM_182916.3(TRNT1):c.59T>C (p.Leu20Pro) rs1704816332
NM_182916.3(TRNT1):c.5_12del (p.Leu2fs)
NM_182916.3(TRNT1):c.608+1G>A rs529290186
NM_182916.3(TRNT1):c.608+6A>G rs747803738
NM_182916.3(TRNT1):c.608+6A>T rs747803738
NM_182916.3(TRNT1):c.608+7A>G rs2126031354
NM_182916.3(TRNT1):c.608G>A (p.Arg203Lys) rs750995691
NM_182916.3(TRNT1):c.609-4G>C
NM_182916.3(TRNT1):c.609-7C>T
NM_182916.3(TRNT1):c.609G>A (p.Arg203=) rs1706023403
NM_182916.3(TRNT1):c.60G>A (p.Leu20=) rs2126002041
NM_182916.3(TRNT1):c.60G>T (p.Leu20=) rs2126002041
NM_182916.3(TRNT1):c.611T>G (p.Phe204Cys) rs1706023542
NM_182916.3(TRNT1):c.624T>A (p.Ile208=) rs367981406
NM_182916.3(TRNT1):c.624T>G (p.Ile208Met) rs367981406
NM_182916.3(TRNT1):c.631A>C (p.Lys211Gln) rs372027157
NM_182916.3(TRNT1):c.632A>G (p.Lys211Arg)
NM_182916.3(TRNT1):c.638G>T (p.Gly213Val) rs745817126
NM_182916.3(TRNT1):c.63C>T (p.Cys21=) rs1307913419
NM_182916.3(TRNT1):c.640G>A (p.Asp214Asn)
NM_182916.3(TRNT1):c.647A>G (p.Asp216Gly) rs2126034760
NM_182916.3(TRNT1):c.649C>T (p.Pro217Ser) rs775586520
NM_182916.3(TRNT1):c.64C>T (p.Leu22Phe) rs965646183
NM_182916.3(TRNT1):c.667del (p.Ile223fs)
NM_182916.3(TRNT1):c.669T>G (p.Ile223Met) rs2126034798
NM_182916.3(TRNT1):c.671C>T (p.Ala224Val) rs2126034803
NM_182916.3(TRNT1):c.679G>T (p.Ala227Ser) rs2126034812
NM_182916.3(TRNT1):c.67_68delinsGT (p.Pro23Val) rs1575035403
NM_182916.3(TRNT1):c.67_68delinsTT (p.Pro23Leu)
NM_182916.3(TRNT1):c.686G>A (p.Gly229Asp) rs773514953
NM_182916.3(TRNT1):c.686G>C (p.Gly229Ala) rs773514953
NM_182916.3(TRNT1):c.689_693del (p.Leu230fs)
NM_182916.3(TRNT1):c.692C>G (p.Ala231Gly) rs1428349978
NM_182916.3(TRNT1):c.693T>A (p.Ala231=) rs2126034848
NM_182916.3(TRNT1):c.700T>G (p.Ser234Ala) rs763684893
NM_182916.3(TRNT1):c.710G>A (p.Arg237Lys) rs2126034891
NM_182916.3(TRNT1):c.711del (p.Ile238fs) rs2126034894
NM_182916.3(TRNT1):c.724C>G (p.Leu242Val) rs1022234414
NM_182916.3(TRNT1):c.733dup (p.Ile245fs) rs1706032688
NM_182916.3(TRNT1):c.736C>T (p.Leu246Phe) rs1575064652
NM_182916.3(TRNT1):c.739G>T (p.Val247Phe) rs1456113852
NM_182916.3(TRNT1):c.73C>A (p.Gln25Lys)
NM_182916.3(TRNT1):c.73C>T (p.Gln25Ter) rs1415152805
NM_182916.3(TRNT1):c.742G>A (p.Gly248Ser)
NM_182916.3(TRNT1):c.747C>T (p.Asn249=) rs2126034966
NM_182916.3(TRNT1):c.74A>G (p.Gln25Arg)
NM_182916.3(TRNT1):c.756T>C (p.Asn252=) rs2126034983
NM_182916.3(TRNT1):c.75G>T (p.Gln25His) rs754086954
NM_182916.3(TRNT1):c.766C>A (p.His256Asn)
NM_182916.3(TRNT1):c.768C>T (p.His256=) rs1411916026
NM_182916.3(TRNT1):c.772A>G (p.Ile258Val) rs769964961
NM_182916.3(TRNT1):c.774C>G (p.Ile258Met)
NM_182916.3(TRNT1):c.774C>T (p.Ile258=)
NM_182916.3(TRNT1):c.776A>G (p.Tyr259Cys)
NM_182916.3(TRNT1):c.778del (p.Asp260fs) rs1433432612
NM_182916.3(TRNT1):c.779A>G (p.Asp260Gly) rs1706037095
NM_182916.3(TRNT1):c.791C>G (p.Ala264Gly)
NM_182916.3(TRNT1):c.795T>C (p.Pro265=) rs1174186377
NM_182916.3(TRNT1):c.798T>C (p.Tyr266=)
NM_182916.3(TRNT1):c.79C>G (p.Leu27Val)
NM_182916.3(TRNT1):c.79C>T (p.Leu27=)
NM_182916.3(TRNT1):c.800T>C (p.Ile267Thr)
NM_182916.3(TRNT1):c.802+15T>C
NM_182916.3(TRNT1):c.802+16A>C
NM_182916.3(TRNT1):c.802+16A>G rs755030575
NM_182916.3(TRNT1):c.802+18dup
NM_182916.3(TRNT1):c.802+19G>A
NM_182916.3(TRNT1):c.802+19G>C rs2126035131
NM_182916.3(TRNT1):c.802+20T>C
NM_182916.3(TRNT1):c.802+20T>G rs2126035135
NM_182916.3(TRNT1):c.802+22_802+25del rs758901089
NM_182916.3(TRNT1):c.802+5G>C
NM_182916.3(TRNT1):c.802+6A>G rs1706039327
NM_182916.3(TRNT1):c.803-10G>A
NM_182916.3(TRNT1):c.803-10G>T rs776053995
NM_182916.3(TRNT1):c.803-14T>C
NM_182916.3(TRNT1):c.803-17T>C
NM_182916.3(TRNT1):c.809del (p.Pro270fs) rs2126036604
NM_182916.3(TRNT1):c.810_811insAAACTT (p.Pro270_Ala271insLysLeu) rs527331900
NM_182916.3(TRNT1):c.811G>A (p.Ala271Thr) rs1553555777
NM_182916.3(TRNT1):c.815A>T (p.Asn272Ile) rs2126036638
NM_182916.3(TRNT1):c.816T>C (p.Asn272=) rs2126036642
NM_182916.3(TRNT1):c.81A>T (p.Leu27=)
NM_182916.3(TRNT1):c.820A>C (p.Ser274Arg) rs1446360172
NM_182916.3(TRNT1):c.824T>C (p.Leu275Ser)
NM_182916.3(TRNT1):c.837C>T (p.Asp279=)
NM_182916.3(TRNT1):c.843C>T (p.Val281=)
NM_182916.3(TRNT1):c.847A>T (p.Lys283Ter) rs749437475
NM_182916.3(TRNT1):c.851dup (p.Asn284fs) rs2126036713
NM_182916.3(TRNT1):c.852T>C (p.Asn284=)
NM_182916.3(TRNT1):c.854T>C (p.Val285Ala)
NM_182916.3(TRNT1):c.856G>A (p.Asp286Asn)
NM_182916.3(TRNT1):c.857A>G (p.Asp286Gly)
NM_182916.3(TRNT1):c.865del (p.Ser289fs) rs1575066836
NM_182916.3(TRNT1):c.876A>G (p.Pro292=)
NM_182916.3(TRNT1):c.883C>G (p.Leu295Val) rs2126036773
NM_182916.3(TRNT1):c.886T>C (p.Leu296=)
NM_182916.3(TRNT1):c.894A>G (p.Ser298=) rs772847879
NM_182916.3(TRNT1):c.895T>A (p.Leu299Ile)
NM_182916.3(TRNT1):c.898T>G (p.Phe300Val) rs1706126293
NM_182916.3(TRNT1):c.906A>G (p.Val302=)
NM_182916.3(TRNT1):c.907C>G (p.Gln303Glu) rs1706127064
NM_182916.3(TRNT1):c.909A>C (p.Gln303His)
NM_182916.3(TRNT1):c.912T>C (p.Asp304=) rs2126036829
NM_182916.3(TRNT1):c.925T>G (p.Leu309Val) rs985101465
NM_182916.3(TRNT1):c.928G>T (p.Asp310Tyr) rs2126036850
NM_182916.3(TRNT1):c.931T>C (p.Leu311=) rs2126036862
NM_182916.3(TRNT1):c.939G>T (p.Leu313Phe)
NM_182916.3(TRNT1):c.943A>G (p.Ile315Val)
NM_182916.3(TRNT1):c.947_948inv (p.Ala316Val)
NM_182916.3(TRNT1):c.948A>C (p.Ala316=) rs1705805
NM_182916.3(TRNT1):c.948_949delinsGG (p.Lys317Glu) rs1706130150
NM_182916.3(TRNT1):c.968G>A (p.Gly323Asp) rs2126036942
NM_182916.3(TRNT1):c.970T>G (p.Leu324Val)
NM_182916.3(TRNT1):c.971T>G (p.Leu324Ter)
NM_182916.3(TRNT1):c.974_977del (p.Leu324_Phe325insTer) rs1249830698
NM_182916.3(TRNT1):c.989G>A (p.Arg330Lys)
NM_182916.3(TRNT1):c.993A>G (p.Lys331=)
NM_182916.3(TRNT1):c.993A>T (p.Lys331Asn) rs1706133107
NM_182916.3(TRNT1):c.994G>C (p.Asp332His) rs1553555848
NM_182916.3(TRNT1):c.996_999del (p.Asp332fs) rs769331677

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