ClinVar Miner

List of variants in gene MTRR studied for anemia

Included ClinVar conditions (288):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 778
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HGVS dbSNP gnomAD frequency
NM_002454.3(MTRR):c.66A>G (p.Ile22Met) rs1801394 0.44947
NM_002454.3(MTRR):c.524C>T (p.Ser175Leu) rs1532268 0.31601
NM_002454.3(MTRR):c.1911G>A (p.Ala637=) rs1802059 0.31218
NM_002454.3(MTRR):c.284-64C>G rs2303079 0.22681
NM_002454.3(MTRR):c.781-80G>A rs162035 0.22379
NM_002454.3(MTRR):c.537T>C (p.Leu179=) rs161870 0.20980
NM_002454.3(MTRR):c.1049A>G (p.Lys350Arg) rs162036 0.20973
NM_002454.3(MTRR):c.1783C>T (p.His595Tyr) rs10380 0.18188
NM_002454.3(MTRR):c.1557+54T>C rs16879356 0.17987
NM_002454.3(MTRR):c.1243C>T (p.Arg415Cys) rs2287780 0.04230
NM_002454.3(MTRR):c.1155G>A (p.Leu385=) rs2287779 0.04224
NM_002454.3(MTRR):c.903+518T>A rs77578255 0.03893
NM_002454.3(MTRR):c.1349C>G (p.Pro450Arg) rs16879334 0.03856
NM_002454.3(MTRR):c.769T>A (p.Ser257Thr) rs2303080 0.03048
NM_002454.3(MTRR):c.1676+20A>G rs2303082 0.03042
NM_002454.3(MTRR):c.1536C>T (p.Ser512=) rs34172797 0.01824
NM_002454.3(MTRR):c.1464A>G (p.Val488=) rs35890938 0.01708
NM_002454.3(MTRR):c.1761T>C (p.Tyr587=) rs6874544 0.01706
NM_002454.3(MTRR):c.1370+19G>A rs113005255 0.01540
NM_002454.3(MTRR):c.1653G>A (p.Pro551=) rs139206262 0.00700
NM_002454.3(MTRR):c.288C>T (p.Leu96=) rs35587995 0.00500
NM_002454.3(MTRR):c.1468A>G (p.Thr490Ala) rs41283145 0.00414
NM_002454.3(MTRR):c.1819G>A (p.Val607Ile) rs114259126 0.00366
NM_002454.3(MTRR):c.876C>T (p.Thr292=) rs144724549 0.00341
NM_002454.3(MTRR):c.210C>G (p.Arg70=) rs41282641 0.00303
NM_002454.3(MTRR):c.1326C>T (p.Leu442=) rs144781389 0.00274
NM_002454.3(MTRR):c.857C>T (p.Thr286Met) rs79430644 0.00198
NM_002454.3(MTRR):c.1982A>G (p.His661Arg) rs148909799 0.00196
NM_002454.3(MTRR):c.739C>T (p.Pro247Ser) rs114053717 0.00190
NM_002454.3(MTRR):c.177C>G (p.Thr59=) rs142098262 0.00147
NM_002454.3(MTRR):c.1544C>T (p.Ala515Val) rs16879355 0.00145
NM_002454.3(MTRR):c.144C>T (p.Thr48=) rs138612190 0.00120
NM_002454.3(MTRR):c.828G>A (p.Val276=) rs115289458 0.00120
NM_002454.3(MTRR):c.781-14A>G rs112996747 0.00104
NM_002454.3(MTRR):c.869T>C (p.Ile290Thr) rs144899305 0.00096
NM_002454.3(MTRR):c.446C>T (p.Ala149Val) rs142714881 0.00077
NM_002454.3(MTRR):c.54C>T (p.Ile18=) rs6413426 0.00062
NM_002454.3(MTRR):c.1021G>A (p.Val341Ile) rs74790259 0.00059
NM_002454.3(MTRR):c.879T>C (p.Thr293=) rs773629167 0.00058
NM_002454.3(MTRR):c.1058-16G>A rs201644712 0.00056
NM_002454.3(MTRR):c.540G>A (p.Val180=) rs149037732 0.00046
NM_002454.3(MTRR):c.958A>G (p.Ser320Gly) rs199762141 0.00044
NM_002454.3(MTRR):c.1182C>G (p.Asp394Glu) rs149678769 0.00041
NM_002454.3(MTRR):c.1777C>T (p.Leu593Phe) rs146415045 0.00039
NM_002454.3(MTRR):c.906T>C (p.Asn302=) rs144729918 0.00025
NM_002454.3(MTRR):c.2071C>T (p.Arg691Cys) rs148414435 0.00023
NM_002454.3(MTRR):c.505G>A (p.Val169Met) rs147742177 0.00021
NM_002454.3(MTRR):c.904-4C>G rs370809675 0.00018
NM_002454.3(MTRR):c.463A>C (p.Arg155=) rs556611332 0.00016
NM_002454.3(MTRR):c.138A>G (p.Leu46=) rs200682655 0.00013
NM_002454.3(MTRR):c.973C>A (p.Gln325Lys) rs138098668 0.00012
NM_002454.3(MTRR):c.198C>T (p.Pro66=) rs776410065 0.00011
NM_002454.3(MTRR):c.542A>G (p.Lys181Arg) rs996966324 0.00011
NM_002454.3(MTRR):c.1020C>T (p.Cys340=) rs201348649 0.00010
NM_002454.3(MTRR):c.904-19dup rs1554003810 0.00010
NM_002454.3(MTRR):c.1677-2dup rs747255318 0.00009
NM_002454.3(MTRR):c.1769+1G>A rs778738842 0.00009
NM_002454.3(MTRR):c.495C>T (p.Gly165=) rs139333376 0.00009
NM_002454.3(MTRR):c.1058-17C>T rs754619256 0.00008
NM_002454.3(MTRR):c.129+10G>A rs6413427 0.00008
NM_002454.3(MTRR):c.1676+3A>G rs369853875 0.00008
NM_002454.3(MTRR):c.1120C>T (p.Leu374Phe) rs372106115 0.00007
NM_002454.3(MTRR):c.1573C>T (p.Arg525Ter) rs147277149 0.00007
NM_002454.3(MTRR):c.1998A>C (p.Gln666His) rs767507060 0.00007
NM_002454.3(MTRR):c.21A>G (p.Leu7=) rs114427781 0.00007
NM_002454.3(MTRR):c.519A>G (p.Ala173=) rs776844185 0.00007
NM_002454.3(MTRR):c.903+469T>C rs893229476 0.00007
NM_002454.3(MTRR):c.1246T>C (p.Phe416Leu) rs769915505 0.00006
NM_002454.3(MTRR):c.1370+18C>T rs374485961 0.00006
NM_002454.3(MTRR):c.1537G>A (p.Gly513Arg) rs150411351 0.00006
NM_002454.3(MTRR):c.383A>G (p.His128Arg) rs185235284 0.00006
NM_002454.3(MTRR):c.952C>T (p.Pro318Ser) rs375421492 0.00006
NM_002454.3(MTRR):c.208C>T (p.Arg70Cys) rs374239028 0.00005
NM_002454.3(MTRR):c.346C>A (p.Gln116Lys) rs202110383 0.00005
NM_002454.3(MTRR):c.503C>T (p.Pro168Leu) rs757635349 0.00005
NM_002454.3(MTRR):c.1018T>G (p.Cys340Gly) rs1183944927 0.00004
NM_002454.3(MTRR):c.1095T>C (p.Ser365=) rs1490381537 0.00004
NM_002454.3(MTRR):c.1147-16G>A rs143842562 0.00004
NM_002454.3(MTRR):c.1165G>A (p.Val389Met) rs774333382 0.00004
NM_002454.3(MTRR):c.1362G>A (p.Ser454=) rs370978510 0.00004
NM_002454.3(MTRR):c.1557+18T>C rs367589908 0.00004
NM_002454.3(MTRR):c.1677-8C>T rs750976454 0.00004
NM_002454.3(MTRR):c.1677-9T>C rs200734299 0.00004
NM_002454.3(MTRR):c.1944T>C (p.Tyr648=) rs143418731 0.00004
NM_002454.3(MTRR):c.2073C>T (p.Arg691=) rs768387137 0.00004
NM_002454.3(MTRR):c.209G>A (p.Arg70His) rs777202031 0.00004
NM_002454.3(MTRR):c.27T>C (p.Ala9=) rs114748706 0.00004
NM_002454.3(MTRR):c.283+13C>G rs368391537 0.00004
NM_002454.3(MTRR):c.402-19G>A rs192942300 0.00004
NM_002454.3(MTRR):c.507G>C (p.Val169=) rs367609729 0.00004
NM_002454.3(MTRR):c.692C>T (p.Ser231Leu) rs201557658 0.00004
NM_002454.3(MTRR):c.1080A>C (p.Ile360=) rs969738618 0.00003
NM_002454.3(MTRR):c.1188T>C (p.Ala396=) rs763760088 0.00003
NM_002454.3(MTRR):c.1287C>T (p.Leu429=) rs551079367 0.00003
NM_002454.3(MTRR):c.1789C>A (p.Leu597Ile) rs755408035 0.00003
NM_002454.3(MTRR):c.246G>C (p.Pro82=) rs149300444 0.00003
NM_002454.3(MTRR):c.268C>T (p.Arg90Trp) rs773984668 0.00003
NM_002454.3(MTRR):c.402-20C>T rs565590605 0.00003
NM_002454.3(MTRR):c.1057+9C>T rs752920631 0.00002
NM_002454.3(MTRR):c.1146+12T>C rs775452380 0.00002
NM_002454.3(MTRR):c.1216A>G (p.Ser406Gly) rs1239051004 0.00002
NM_002454.3(MTRR):c.1252C>T (p.Arg418Ter) rs777997657 0.00002
NM_002454.3(MTRR):c.129+20A>T rs758051759 0.00002
NM_002454.3(MTRR):c.1317T>C (p.Ser439=) rs756279354 0.00002
NM_002454.3(MTRR):c.1418T>C (p.Val473Ala) rs777447397 0.00002
NM_002454.3(MTRR):c.1563C>T (p.Ser521=) rs757184514 0.00002
NM_002454.3(MTRR):c.1575A>C (p.Arg525=) rs369430052 0.00002
NM_002454.3(MTRR):c.1591C>T (p.His531Tyr) rs767321681 0.00002
NM_002454.3(MTRR):c.1641C>T (p.Thr547=) rs1044675786 0.00002
NM_002454.3(MTRR):c.166G>A (p.Val56Met) rs761061866 0.00002
NM_002454.3(MTRR):c.1769+14C>T rs760216011 0.00002
NM_002454.3(MTRR):c.1773A>G (p.Lys591=) rs760394620 0.00002
NM_002454.3(MTRR):c.1959A>G (p.Ala653=) rs763202690 0.00002
NM_002454.3(MTRR):c.280C>T (p.Leu94=) rs1383637211 0.00002
NM_002454.3(MTRR):c.317A>G (p.Asn106Ser) rs763568058 0.00002
NM_002454.3(MTRR):c.405A>C (p.Leu135Phe) rs754157293 0.00002
NM_002454.3(MTRR):c.459T>C (p.His153=) rs1485372093 0.00002
NM_002454.3(MTRR):c.766G>T (p.Glu256Ter) rs375908206 0.00002
NM_002454.3(MTRR):c.1035A>G (p.Ile345Met) rs140944718 0.00001
NM_002454.3(MTRR):c.1041A>G (p.Ala347=) rs1331838959 0.00001
NM_002454.3(MTRR):c.1057+7G>T rs767794040 0.00001
NM_002454.3(MTRR):c.1086G>A (p.Ala362=) rs750381895 0.00001
NM_002454.3(MTRR):c.1131A>C (p.Arg377=) rs1050662553 0.00001
NM_002454.3(MTRR):c.1135A>G (p.Ile379Val) rs746404785 0.00001
NM_002454.3(MTRR):c.1136T>G (p.Ile379Ser) rs1243456483 0.00001
NM_002454.3(MTRR):c.1147-6T>C rs781413511 0.00001
NM_002454.3(MTRR):c.1147-8T>C rs961118885 0.00001
NM_002454.3(MTRR):c.1149A>G (p.Ala383=) rs748418818 0.00001
NM_002454.3(MTRR):c.1156C>T (p.Arg386Ter) rs1421007019 0.00001
NM_002454.3(MTRR):c.1179T>C (p.Ser393=) rs1333791112 0.00001
NM_002454.3(MTRR):c.1227G>A (p.Gly409=) rs1250182164 0.00001
NM_002454.3(MTRR):c.1239T>C (p.Tyr413=) rs755507944 0.00001
NM_002454.3(MTRR):c.123C>T (p.Ser41=) rs759379396 0.00001
NM_002454.3(MTRR):c.1253G>A (p.Arg418Gln) rs749461781 0.00001
NM_002454.3(MTRR):c.1257T>C (p.Asp419=) rs1292824472 0.00001
NM_002454.3(MTRR):c.1266C>T (p.Ala422=) rs981600908 0.00001
NM_002454.3(MTRR):c.127A>G (p.Lys43Glu) rs937595017 0.00001
NM_002454.3(MTRR):c.130-12C>G rs764724859 0.00001
NM_002454.3(MTRR):c.1311A>G (p.Pro437=) rs755561250 0.00001
NM_002454.3(MTRR):c.1361C>T (p.Ser454Leu) rs137853062 0.00001
NM_002454.3(MTRR):c.1371-10A>G rs368498814 0.00001
NM_002454.3(MTRR):c.13C>T (p.Leu5=) rs763313419 0.00001
NM_002454.3(MTRR):c.1443A>G (p.Thr481=) rs1359474445 0.00001
NM_002454.3(MTRR):c.1527T>C (p.His509=) rs1483514424 0.00001
NM_002454.3(MTRR):c.1533C>T (p.Asp511=) rs1269324233 0.00001
NM_002454.3(MTRR):c.1546C>T (p.Leu516=) rs1268958481 0.00001
NM_002454.3(MTRR):c.1554_1557+3del rs754619743 0.00001
NM_002454.3(MTRR):c.1574G>A (p.Arg525Gln) rs1343250131 0.00001
NM_002454.3(MTRR):c.1593C>T (p.His531=) rs778082216 0.00001
NM_002454.3(MTRR):c.1597C>T (p.Pro533Ser) rs771421325 0.00001
NM_002454.3(MTRR):c.1602T>C (p.Asp534=) rs1738404887 0.00001
NM_002454.3(MTRR):c.1666C>T (p.Leu556=) rs762466500 0.00001
NM_002454.3(MTRR):c.1676+10T>C rs757713803 0.00001
NM_002454.3(MTRR):c.1677-6A>G rs780299669 0.00001
NM_002454.3(MTRR):c.1727T>G (p.Leu576Trp) rs771123203 0.00001
NM_002454.3(MTRR):c.1764A>G (p.Leu588=) rs766927577 0.00001
NM_002454.3(MTRR):c.1769+8A>G rs892239997 0.00001
NM_002454.3(MTRR):c.1780A>T (p.Arg594Ter) rs1293600145 0.00001
NM_002454.3(MTRR):c.1791T>C (p.Leu597=) rs767659059 0.00001
NM_002454.3(MTRR):c.1844T>C (p.Val615Ala) rs1318949494 0.00001
NM_002454.3(MTRR):c.1857A>G (p.Glu619=) rs1416687292 0.00001
NM_002454.3(MTRR):c.1869G>A (p.Lys623=) rs768364684 0.00001
NM_002454.3(MTRR):c.1883A>G (p.Asn628Ser) rs144020429 0.00001
NM_002454.3(MTRR):c.1890G>A (p.Gln630=) rs9282786 0.00001
NM_002454.3(MTRR):c.1917C>A (p.Ile639=) rs778699591 0.00001
NM_002454.3(MTRR):c.1952+14G>A rs557018438 0.00001
NM_002454.3(MTRR):c.1992T>C (p.Leu664=) rs375588388 0.00001
NM_002454.3(MTRR):c.2031A>G (p.Leu677=) rs367590648 0.00001
NM_002454.3(MTRR):c.2052C>T (p.Ala684=) rs1427160228 0.00001
NM_002454.3(MTRR):c.2076C>T (p.Tyr692=) rs984089159 0.00001
NM_002454.3(MTRR):c.230del (p.Gln77fs) rs1408257020 0.00001
NM_002454.3(MTRR):c.303C>T (p.Tyr101=) rs1748681766 0.00001
NM_002454.3(MTRR):c.313T>G (p.Cys105Gly) rs1484416611 0.00001
NM_002454.3(MTRR):c.340C>T (p.Arg114Ter) rs754990692 0.00001
NM_002454.3(MTRR):c.378T>C (p.Thr126=) rs577851734 0.00001
NM_002454.3(MTRR):c.399A>G (p.Val133=) rs560392566 0.00001
NM_002454.3(MTRR):c.39A>G (p.Gly13=) rs752509731 0.00001
NM_002454.3(MTRR):c.401+10G>A rs760026002 0.00001
NM_002454.3(MTRR):c.401+1G>A rs1400065323 0.00001
NM_002454.3(MTRR):c.401+9A>G rs376866907 0.00001
NM_002454.3(MTRR):c.423G>A (p.Pro141=) rs753947379 0.00001
NM_002454.3(MTRR):c.432T>G (p.Ala144=) rs116439533 0.00001
NM_002454.3(MTRR):c.477A>G (p.Gly159=) rs1270504511 0.00001
NM_002454.3(MTRR):c.487A>G (p.Ile163Val) rs886060804 0.00001
NM_002454.3(MTRR):c.498A>G (p.Ala166=) rs747865209 0.00001
NM_002454.3(MTRR):c.504G>A (p.Pro168=) rs746183496 0.00001
NM_002454.3(MTRR):c.527G>C (p.Arg176Thr) rs1182297284 0.00001
NM_002454.3(MTRR):c.52A>G (p.Ile18Val) rs753325140 0.00001
NM_002454.3(MTRR):c.588C>T (p.Phe196=) rs776897289 0.00001
NM_002454.3(MTRR):c.589G>C (p.Asp197His) rs748186027 0.00001
NM_002454.3(MTRR):c.594T>C (p.Asp198=) rs773514527 0.00001
NM_002454.3(MTRR):c.612T>C (p.Ser204=) rs374670570 0.00001
NM_002454.3(MTRR):c.703C>T (p.Leu235Phe) rs1238722351 0.00001
NM_002454.3(MTRR):c.708A>G (p.Ser236=) rs372700667 0.00001
NM_002454.3(MTRR):c.735A>C (p.Leu245Phe) rs1343821146 0.00001
NM_002454.3(MTRR):c.744A>G (p.Glu248=) rs749341418 0.00001
NM_002454.3(MTRR):c.763C>T (p.Gln255Ter) rs1353165398 0.00001
NM_002454.3(MTRR):c.780+20T>C rs563392085 0.00001
NM_002454.3(MTRR):c.807A>G (p.Ser269=) rs1348478237 0.00001
NM_002454.3(MTRR):c.832A>G (p.Ile278Val) rs1377146830 0.00001
NM_002454.3(MTRR):c.84A>G (p.Val28=) rs1045121482 0.00001
NM_002454.3(MTRR):c.863A>G (p.Asp288Gly) rs766083570 0.00001
NM_002454.3(MTRR):c.903+19T>A rs930028739 0.00001
NM_002454.3(MTRR):c.904-10del rs1467919139 0.00001
NM_002454.3(MTRR):c.936C>T (p.Ala312=) rs777075473 0.00001
NM_002454.3(MTRR):c.942C>T (p.Ser314=) rs770336060 0.00001
MTRR, 4-BP DEL, NT1675
NC_000005.10:g.(?_7869114)_(7900078_?)del
NC_000005.10:g.(?_7877934)_(7878332_?)del
NC_000005.10:g.(?_7883145)_(7892923_?)del
NC_000005.9:g.(?_7870908)_(7871056_?)del
NC_000005.9:g.(?_7870908)_(7900171_?)del
NC_000005.9:g.(?_7870908)_(7900171_?)dup
NC_000005.9:g.(?_7875361)_(7875498_?)del
NC_000005.9:g.(?_7885880)_(7887275_?)del
NC_000005.9:g.(?_7889198)_(7897370_?)del
NC_000005.9:g.(?_7891465)_(7891547_?)del
NC_000005.9:g.(?_7892820)_(7893046_?)del
NC_000005.9:g.(?_7895827)_(7900171_?)dup
NM_002454.3(MTRR):c.-26+755C>A rs326119
NM_002454.3(MTRR):c.1015C>G (p.His339Asp)
NM_002454.3(MTRR):c.1016A>G (p.His339Arg)
NM_002454.3(MTRR):c.1020C>A (p.Cys340Ter)
NM_002454.3(MTRR):c.1026T>G (p.Leu342=)
NM_002454.3(MTRR):c.1029G>A (p.Leu343=)
NM_002454.3(MTRR):c.102T>C (p.Asp34=)
NM_002454.3(MTRR):c.1032A>G (p.Lys344=)
NM_002454.3(MTRR):c.1041A>C (p.Ala347=) rs1331838959
NM_002454.3(MTRR):c.1047_1049del (p.Lys352del)
NM_002454.3(MTRR):c.1048_1049del (p.Lys350fs) rs2126745614
NM_002454.3(MTRR):c.1049_1052del (p.Lys350fs) rs2126745648
NM_002454.3(MTRR):c.1056A>C (p.Lys352Asn)
NM_002454.3(MTRR):c.1057+12G>A
NM_002454.3(MTRR):c.1057+17T>C
NM_002454.3(MTRR):c.1057+8C>G rs1325906968
NM_002454.3(MTRR):c.1057+8C>T
NM_002454.3(MTRR):c.1057+9_1057+16del
NM_002454.3(MTRR):c.1058-5A>C rs2126751043
NM_002454.3(MTRR):c.1058-8del rs1736476987
NM_002454.3(MTRR):c.1058-9C>T rs1736476286
NM_002454.3(MTRR):c.1058G>A (p.Gly353Glu)
NM_002454.3(MTRR):c.1063A>G (p.Thr355Ala)
NM_002454.3(MTRR):c.1066T>C (p.Leu356=) rs2126751152
NM_002454.3(MTRR):c.106C>T (p.His36Tyr)
NM_002454.3(MTRR):c.1070C>T (p.Pro357Leu) rs2126751184
NM_002454.3(MTRR):c.1071C>T (p.Pro357=)
NM_002454.3(MTRR):c.1073A>G (p.Gln358Arg) rs776598893
NM_002454.3(MTRR):c.1074G>A (p.Gln358=) rs1561229685
NM_002454.3(MTRR):c.1075C>T (p.His359Tyr) rs1405292334
NM_002454.3(MTRR):c.1077T>C (p.His359=)
NM_002454.3(MTRR):c.1083T>C (p.Pro361=) rs1405600544
NM_002454.3(MTRR):c.1089A>G (p.Gly363=) rs1561230017
NM_002454.3(MTRR):c.108C>T (p.His36=)
NM_002454.3(MTRR):c.1091_1093del (p.Cys364del) rs796052001
NM_002454.3(MTRR):c.109dup (p.Cys37fs) rs1747853230
NM_002454.3(MTRR):c.1113C>T (p.Thr371=)
NM_002454.3(MTRR):c.1123G>T (p.Glu375Ter) rs772547714
NM_002454.3(MTRR):c.1125A>G (p.Glu375=) rs1425446891
NM_002454.3(MTRR):c.1129C>T (p.Arg377Ter)
NM_002454.3(MTRR):c.1140T>C (p.Pro380=)
NM_002454.3(MTRR):c.1144A>G (p.Lys382Glu)
NM_002454.3(MTRR):c.1146+10del rs750264866
NM_002454.3(MTRR):c.1146+10dup rs750264866
NM_002454.3(MTRR):c.1146+13G>T
NM_002454.3(MTRR):c.1146+19T>G
NM_002454.3(MTRR):c.1146+1G>C rs772608494
NM_002454.3(MTRR):c.1146+3A>G
NM_002454.3(MTRR):c.1147-11C>G rs1015760904
NM_002454.3(MTRR):c.1147-14G>A rs9282791
NM_002454.3(MTRR):c.1147-14G>T
NM_002454.3(MTRR):c.1147-15G>T
NM_002454.3(MTRR):c.1147-17C>T
NM_002454.3(MTRR):c.1155_1156delinsAT (p.Arg386Ter) rs1737110583
NM_002454.3(MTRR):c.1163_1188del (p.Leu388fs) rs1561245416
NM_002454.3(MTRR):c.1175C>T (p.Thr392Ile)
NM_002454.3(MTRR):c.1182C>T (p.Asp394=)
NM_002454.3(MTRR):c.1183_1184del (p.Ser395fs) rs1579758005
NM_002454.3(MTRR):c.1203A>G (p.Leu401=) rs200661044
NM_002454.3(MTRR):c.1209G>A (p.Glu403=) rs1324764527
NM_002454.3(MTRR):c.120A>C (p.Glu40Asp)
NM_002454.3(MTRR):c.1212G>T (p.Leu404=) rs2126771253
NM_002454.3(MTRR):c.1219A>T (p.Lys407Ter)
NM_002454.3(MTRR):c.1221A>G (p.Lys407=) rs2126771342
NM_002454.3(MTRR):c.1230A>C (p.Ala410=) rs2126771427
NM_002454.3(MTRR):c.1233C>G (p.Ala411=) rs752174231
NM_002454.3(MTRR):c.1233C>T (p.Ala411=) rs752174231
NM_002454.3(MTRR):c.1248T>C (p.Phe416=) rs886060807
NM_002454.3(MTRR):c.1251A>C (p.Val417=)
NM_002454.3(MTRR):c.1253G>C (p.Arg418Pro)
NM_002454.3(MTRR):c.1260C>G (p.Ala420=) rs774102072
NM_002454.3(MTRR):c.1260C>T (p.Ala420=) rs774102072
NM_002454.3(MTRR):c.1272G>A (p.Leu424=)
NM_002454.3(MTRR):c.129+10G>C rs6413427
NM_002454.3(MTRR):c.129+11T>C
NM_002454.3(MTRR):c.129+12T>C
NM_002454.3(MTRR):c.129+13A>T
NM_002454.3(MTRR):c.129+14C>G
NM_002454.3(MTRR):c.129+15A>G
NM_002454.3(MTRR):c.129+20A>C
NM_002454.3(MTRR):c.129+7G>A
NM_002454.3(MTRR):c.129+9C>T rs527869420
NM_002454.3(MTRR):c.1290T>C (p.Ala430=) rs2126772061
NM_002454.3(MTRR):c.1293C>T (p.Phe431=) rs766885971
NM_002454.3(MTRR):c.130-14T>C
NM_002454.3(MTRR):c.130-17A>T
NM_002454.3(MTRR):c.130-18G>A
NM_002454.3(MTRR):c.130-1G>A
NM_002454.3(MTRR):c.130-20T>G
NM_002454.3(MTRR):c.130-4G>A rs201823283
NM_002454.3(MTRR):c.1314C>T (p.Leu438=)
NM_002454.3(MTRR):c.1314_1315insCTGCCAGCCACCACTC (p.Ser439fs) rs2126772123
NM_002454.3(MTRR):c.1327+10C>G rs757398819
NM_002454.3(MTRR):c.1327+10C>T rs757398819
NM_002454.3(MTRR):c.1327+11G>A
NM_002454.3(MTRR):c.1327+19A>G
NM_002454.3(MTRR):c.1327+1G>A
NM_002454.3(MTRR):c.1327+20A>G
NM_002454.3(MTRR):c.1327+8G>A
NM_002454.3(MTRR):c.1328-12A>G
NM_002454.3(MTRR):c.1328-13T>A
NM_002454.3(MTRR):c.1328-13T>C
NM_002454.3(MTRR):c.1328-4C>G rs747003266
NM_002454.3(MTRR):c.1328-4C>T rs747003266
NM_002454.3(MTRR):c.1328-6T>G
NM_002454.3(MTRR):c.1328-7_1328-5del rs779772153
NM_002454.3(MTRR):c.1328-8T>C
NM_002454.3(MTRR):c.132T>A (p.Tyr44Ter)
NM_002454.3(MTRR):c.132T>C (p.Tyr44=)
NM_002454.3(MTRR):c.132T>G (p.Tyr44Ter)
NM_002454.3(MTRR):c.1339A>T (p.Lys447Ter) rs1440404360
NM_002454.3(MTRR):c.1350C>T (p.Pro450=)
NM_002454.3(MTRR):c.1355_1361dup (p.Cys455fs)
NM_002454.3(MTRR):c.1356A>G (p.Pro452=)
NM_002454.3(MTRR):c.1364G>C (p.Cys455Ser) rs764469824
NM_002454.3(MTRR):c.1368A>G (p.Ala456=) rs2126785758
NM_002454.3(MTRR):c.1370+12T>C
NM_002454.3(MTRR):c.1370+12del rs1444115346
NM_002454.3(MTRR):c.1370+20T>A
NM_002454.3(MTRR):c.1370+2TAC[3]
NM_002454.3(MTRR):c.1370+9A>G rs2126785823
NM_002454.3(MTRR):c.1370+9del
NM_002454.3(MTRR):c.1371-11dup
NM_002454.3(MTRR):c.1371-17T>C
NM_002454.3(MTRR):c.1371-18G>A
NM_002454.3(MTRR):c.1371-1G>A rs1219605974
NM_002454.3(MTRR):c.1371-4G>T rs2126793044
NM_002454.3(MTRR):c.1371-8C>G rs2126793017
NM_002454.3(MTRR):c.1373C>G (p.Ser458Ter)
NM_002454.3(MTRR):c.1379T>G (p.Leu460Ter) rs1554006017
NM_002454.3(MTRR):c.1386C>T (p.His462=)
NM_002454.3(MTRR):c.1394dup (p.Leu466fs)
NM_002454.3(MTRR):c.1395G>A (p.Lys465=) rs2126793201
NM_002454.3(MTRR):c.1401T>G (p.His467Gln) rs1737824362
NM_002454.3(MTRR):c.1415T>C (p.Ile472Thr)
NM_002454.3(MTRR):c.1418_1419del (p.Val473fs)
NM_002454.3(MTRR):c.1425T>C (p.Phe475=) rs1737829430
NM_002454.3(MTRR):c.1428G>A (p.Leu476=)
NM_002454.3(MTRR):c.1430C>G (p.Ser477Cys) rs1737830740
NM_002454.3(MTRR):c.1431T>G (p.Ser477=) rs896702427
NM_002454.3(MTRR):c.1438A>G (p.Thr480Ala)
NM_002454.3(MTRR):c.1441dup (p.Thr481fs)
NM_002454.3(MTRR):c.1446G>C (p.Glu482Asp) rs2126793498
NM_002454.3(MTRR):c.1452G>A (p.Leu484=) rs2126793535
NM_002454.3(MTRR):c.1454G>A (p.Arg485Gln)
NM_002454.3(MTRR):c.1457A>G (p.Lys486Arg)
NM_002454.3(MTRR):c.1459G>A (p.Gly487Arg) rs137853061
NM_002454.3(MTRR):c.1473C>T (p.Gly491=)
NM_002454.3(MTRR):c.1474del (p.Trp492fs)
NM_002454.3(MTRR):c.1475G>A (p.Trp492Ter)
NM_002454.3(MTRR):c.1476del (p.Trp492fs) rs2126793645
NM_002454.3(MTRR):c.1479G>A (p.Leu493=)
NM_002454.3(MTRR):c.1482C>T (p.Ala494=) rs1579792709
NM_002454.3(MTRR):c.1488G>A (p.Leu496=) rs1158860588
NM_002454.3(MTRR):c.1490T>C (p.Val497Ala) rs1737849237
NM_002454.3(MTRR):c.1492G>A (p.Ala498Thr) rs1737849963
NM_002454.3(MTRR):c.1493C>T (p.Ala498Val)
NM_002454.3(MTRR):c.1499T>G (p.Val500Gly)
NM_002454.3(MTRR):c.1502T>G (p.Leu501Arg) rs2126793764
NM_002454.3(MTRR):c.1504C>T (p.Gln502Ter) rs1737852706
NM_002454.3(MTRR):c.1506G>A (p.Gln502=)
NM_002454.3(MTRR):c.1515A>G (p.Ile505Met)
NM_002454.3(MTRR):c.1520C>T (p.Ala507Val)
NM_002454.3(MTRR):c.1524C>T (p.Ser508=)
NM_002454.3(MTRR):c.1526A>G (p.His509Arg)
NM_002454.3(MTRR):c.1534A>C (p.Ser512Arg)
NM_002454.3(MTRR):c.1545C>T (p.Ala515=)
NM_002454.3(MTRR):c.1552C>T (p.Pro518Ser)
NM_002454.3(MTRR):c.1554T>C (p.Pro518=) rs2126794116
NM_002454.3(MTRR):c.1557+10T>C rs1414777712
NM_002454.3(MTRR):c.1557+16C>T
NM_002454.3(MTRR):c.1558-12G>A
NM_002454.3(MTRR):c.1558-13T>C
NM_002454.3(MTRR):c.1558-14A>G
NM_002454.3(MTRR):c.1558-15del
NM_002454.3(MTRR):c.1558-17T>C
NM_002454.3(MTRR):c.1558-6T>C
NM_002454.3(MTRR):c.1558-8T>C rs2126807577
NM_002454.3(MTRR):c.1560A>C (p.Ile520=)
NM_002454.3(MTRR):c.1564A>G (p.Ile522Val)
NM_002454.3(MTRR):c.1566C>A (p.Ile522=) rs1579815027
NM_002454.3(MTRR):c.1575A>T (p.Arg525=)
NM_002454.3(MTRR):c.1581A>G (p.Thr527=)
NM_002454.3(MTRR):c.1581A>T (p.Thr527=)
NM_002454.3(MTRR):c.1583A>G (p.Asn528Ser)
NM_002454.3(MTRR):c.1590C>T (p.Phe530=) rs2126807805
NM_002454.3(MTRR):c.1594T>C (p.Leu532=) rs2126807843
NM_002454.3(MTRR):c.1596A>G (p.Leu532=)
NM_002454.3(MTRR):c.1596A>T (p.Leu532Phe)
NM_002454.3(MTRR):c.1599A>G (p.Pro533=) rs2126807880
NM_002454.3(MTRR):c.159T>C (p.Leu53=)
NM_002454.3(MTRR):c.15G>A (p.Leu5=) rs2126643854
NM_002454.3(MTRR):c.1608C>T (p.Pro536=)
NM_002454.3(MTRR):c.1612dup (p.Ile538fs) rs757800887
NM_002454.3(MTRR):c.1614C>T (p.Ile538=) rs2126807956
NM_002454.3(MTRR):c.1619T>G (p.Ile540Ser)
NM_002454.3(MTRR):c.1620C>T (p.Ile540=)
NM_002454.3(MTRR):c.1621A>G (p.Ile541Val) rs752471011
NM_002454.3(MTRR):c.1622_1623dup (p.Met542Ter) rs2126808021
NM_002454.3(MTRR):c.1628T>A (p.Val543Glu)
NM_002454.3(MTRR):c.162T>C (p.Val54=) rs2126662749
NM_002454.3(MTRR):c.1631del (p.Gly544fs)
NM_002454.3(MTRR):c.1632T>C (p.Gly544=)
NM_002454.3(MTRR):c.1642G>A (p.Gly548Ser) rs1738413262
NM_002454.3(MTRR):c.1643del (p.Gly548fs)
NM_002454.3(MTRR):c.1644C>T (p.Gly548=)
NM_002454.3(MTRR):c.1650C>T (p.Ala550=) rs2126808168
NM_002454.3(MTRR):c.1652dup (p.Phe552fs) rs2126808162
NM_002454.3(MTRR):c.165T>C (p.Val55=)
NM_002454.3(MTRR):c.1668A>C (p.Leu556=)
NM_002454.3(MTRR):c.1668A>G (p.Leu556=)
NM_002454.3(MTRR):c.1670A>G (p.Gln557Arg)
NM_002454.3(MTRR):c.1674T>C (p.His558=)
NM_002454.3(MTRR):c.1674dup (p.Arg559Ter)
NM_002454.3(MTRR):c.1676+15dup
NM_002454.3(MTRR):c.1676+2T>C
NM_002454.3(MTRR):c.1676+7T>G
NM_002454.3(MTRR):c.1676+8C>T
NM_002454.3(MTRR):c.1677-11T>C
NM_002454.3(MTRR):c.1677-1G>A
NM_002454.3(MTRR):c.1677-20C>T
NM_002454.3(MTRR):c.1677-4T>C
NM_002454.3(MTRR):c.1677-7dup
NM_002454.3(MTRR):c.1677-9del rs746262908
NM_002454.3(MTRR):c.1677-9dup rs746262908
NM_002454.3(MTRR):c.1678_1681del (p.Glu560Asnfs) rs768980918
NM_002454.3(MTRR):c.1680G>A (p.Glu560=) rs2126812708
NM_002454.3(MTRR):c.1682A>G (p.Lys561Arg)
NM_002454.3(MTRR):c.1686C>T (p.Leu562=) rs909879819
NM_002454.3(MTRR):c.1698C>T (p.His566=) rs2126812807
NM_002454.3(MTRR):c.16T>C (p.Leu6=) rs2126643873
NM_002454.3(MTRR):c.1704T>C (p.Asp568=) rs2126812841
NM_002454.3(MTRR):c.1716A>C (p.Gly572=) rs755255468
NM_002454.3(MTRR):c.1717G>A (p.Ala573Thr) rs1738616151
NM_002454.3(MTRR):c.171T>A (p.Val57=) rs2126662820
NM_002454.3(MTRR):c.1720A>T (p.Met574Leu) rs781416288
NM_002454.3(MTRR):c.1725GTT[1] (p.Leu576del) rs2126812944
NM_002454.3(MTRR):c.1728G>A (p.Leu576=)
NM_002454.3(MTRR):c.1728del (p.Leu576fs) rs2126812977
NM_002454.3(MTRR):c.1741A>C (p.Arg581=) rs1738621244
NM_002454.3(MTRR):c.1749G>A (p.Lys583=) rs1261248965
NM_002454.3(MTRR):c.1764A>C (p.Leu588=) rs766927577
NM_002454.3(MTRR):c.1764A>T (p.Leu588=) rs766927577
NM_002454.3(MTRR):c.1768A>G (p.Arg590Gly)
NM_002454.3(MTRR):c.1769+10A>T rs1738630744
NM_002454.3(MTRR):c.1769+11A>G
NM_002454.3(MTRR):c.1769+15C>G
NM_002454.3(MTRR):c.1769+6G>A
NM_002454.3(MTRR):c.1769+9C>G
NM_002454.3(MTRR):c.1770-12A>G
NM_002454.3(MTRR):c.1770-14A>G
NM_002454.3(MTRR):c.1770-7A>G rs2126813814
NM_002454.3(MTRR):c.1771A>G (p.Lys591Glu)
NM_002454.3(MTRR):c.1779C>G (p.Leu593=)
NM_002454.3(MTRR):c.177C>T (p.Thr59=)
NM_002454.3(MTRR):c.1784A>G (p.His595Arg)
NM_002454.3(MTRR):c.1788C>T (p.Phe596=)
NM_002454.3(MTRR):c.1794G>A (p.Lys598=) rs2126814001
NM_002454.3(MTRR):c.1796A>G (p.His599Arg)
NM_002454.3(MTRR):c.1803C>T (p.Ile601=) rs1448214074
NM_002454.3(MTRR):c.1804T>C (p.Leu602=)
NM_002454.3(MTRR):c.1809T>C (p.Thr603=) rs1390898831
NM_002454.3(MTRR):c.1815A>G (p.Leu605=) rs2126814152
NM_002454.3(MTRR):c.1818G>T (p.Lys606Asn) rs939239779
NM_002454.3(MTRR):c.1824C>G (p.Ser608=)
NM_002454.3(MTRR):c.1832G>C (p.Arg611Thr) rs2126814266
NM_002454.3(MTRR):c.1839T>A (p.Ala613=) rs2126814313
NM_002454.3(MTRR):c.183C>T (p.Gly61=)
NM_002454.3(MTRR):c.1846G>A (p.Gly616Arg)
NM_002454.3(MTRR):c.1854G>A (p.Glu618=) rs955857433
NM_002454.3(MTRR):c.1863A>G (p.Pro621=)
NM_002454.3(MTRR):c.1866A>G (p.Ala622=)
NM_002454.3(MTRR):c.186C>T (p.Thr62=) rs940332374
NM_002454.3(MTRR):c.1875G>A (p.Val625=) rs12347
NM_002454.3(MTRR):c.1875G>C (p.Val625=) rs12347
NM_002454.3(MTRR):c.1875G>T (p.Val625=) rs12347
NM_002454.3(MTRR):c.1878A>G (p.Gln626=)
NM_002454.3(MTRR):c.1884C>T (p.Asn628=)
NM_002454.3(MTRR):c.1887C>A (p.Ile629=) rs2126814585
NM_002454.3(MTRR):c.1887C>T (p.Ile629=)
NM_002454.3(MTRR):c.1893T>C (p.Leu631=) rs114274194
NM_002454.3(MTRR):c.1902G>A (p.Gln634=) rs945164864
NM_002454.3(MTRR):c.1910_1911delinsAA (p.Ala637Glu)
NM_002454.3(MTRR):c.1912A>C (p.Arg638=) rs2126814708
NM_002454.3(MTRR):c.1920C>T (p.Leu640=)
NM_002454.3(MTRR):c.1923C>G (p.Leu641=) rs1738686385
NM_002454.3(MTRR):c.1923C>T (p.Leu641=)
NM_002454.3(MTRR):c.1927G>C (p.Glu643Gln)
NM_002454.3(MTRR):c.1929G>A (p.Glu643=) rs1738688155
NM_002454.3(MTRR):c.1932C>T (p.Asn644=) rs374659219
NM_002454.3(MTRR):c.1938T>C (p.His646=) rs747850307
NM_002454.3(MTRR):c.1952+10T>A
NM_002454.3(MTRR):c.1952+10T>C
NM_002454.3(MTRR):c.1952+10_1952+12del rs2126815094
NM_002454.3(MTRR):c.1952+11A>T
NM_002454.3(MTRR):c.1952+12_1952+16dup
NM_002454.3(MTRR):c.1952+13C>T
NM_002454.3(MTRR):c.1952+17C>A
NM_002454.3(MTRR):c.1952+20A>G
NM_002454.3(MTRR):c.1952+7C>T
NM_002454.3(MTRR):c.1953-14A>G
NM_002454.3(MTRR):c.1953-14_1953-12del
NM_002454.3(MTRR):c.1953-15T>C
NM_002454.3(MTRR):c.1953-16T>C
NM_002454.3(MTRR):c.1953-18T>C
NM_002454.3(MTRR):c.1953-19T>C
NM_002454.3(MTRR):c.1953-20C>T
NM_002454.3(MTRR):c.1953-4C>G
NM_002454.3(MTRR):c.1953-4C>T
NM_002454.3(MTRR):c.1953-9C>A
NM_002454.3(MTRR):c.1953del (p.Asp652fs)
NM_002454.3(MTRR):c.1956T>C (p.Asp652=) rs765283033
NM_002454.3(MTRR):c.1958C>A (p.Ala653Glu)
NM_002454.3(MTRR):c.195A>G (p.Pro65=) rs1166869664
NM_002454.3(MTRR):c.1962G>A (p.Lys654=)
NM_002454.3(MTRR):c.1970C>T (p.Ala657Val) rs1739209079
NM_002454.3(MTRR):c.1971C>T (p.Ala657=)
NM_002454.3(MTRR):c.1975G>T (p.Asp659Tyr)
NM_002454.3(MTRR):c.1977T>G (p.Asp659Glu) rs751318676
NM_002454.3(MTRR):c.1983T>C (p.His661=)
NM_002454.3(MTRR):c.1986T>C (p.Asp662=) rs2126829225
NM_002454.3(MTRR):c.1989C>T (p.Ala663=) rs2126829261
NM_002454.3(MTRR):c.1998A>G (p.Gln666=) rs767507060
NM_002454.3(MTRR):c.1A>G (p.Met1Val) rs1747827267
NM_002454.3(MTRR):c.2001A>T (p.Ile667=) rs1186554585
NM_002454.3(MTRR):c.2016T>C (p.Val672=) rs1162603124
NM_002454.3(MTRR):c.2021T>C (p.Val674Ala) rs775031794
NM_002454.3(MTRR):c.2029C>T (p.Leu677=)
NM_002454.3(MTRR):c.2031A>C (p.Leu677=)
NM_002454.3(MTRR):c.2037A>C (p.Ala679=)
NM_002454.3(MTRR):c.2037A>G (p.Ala679=)
NM_002454.3(MTRR):c.2047C>T (p.Leu683=)
NM_002454.3(MTRR):c.2049G>C (p.Leu683=)
NM_002454.3(MTRR):c.204A>G (p.Thr68=)
NM_002454.3(MTRR):c.2072G>A (p.Arg691His)
NM_002454.3(MTRR):c.2079T>G (p.Leu693=)
NM_002454.3(MTRR):c.2088T>A (p.Ile696=)
NM_002454.3(MTRR):c.2088T>C (p.Ile696=) rs2126829944
NM_002454.3(MTRR):c.2094A>G (p.Ser698=) rs1249803440
NM_002454.3(MTRR):c.216T>C (p.Phe72=)
NM_002454.3(MTRR):c.220A>G (p.Lys74Glu) rs1748351304
NM_002454.3(MTRR):c.227del (p.Ile76fs)
NM_002454.3(MTRR):c.228dup (p.Gln77fs) rs2126663415
NM_002454.3(MTRR):c.234C>T (p.Asn78=) rs757746363
NM_002454.3(MTRR):c.237A>G (p.Gln79=)
NM_002454.3(MTRR):c.240A>C (p.Thr80=)
NM_002454.3(MTRR):c.240A>G (p.Thr80=)
NM_002454.3(MTRR):c.246G>A (p.Pro82=) rs149300444
NM_002454.3(MTRR):c.24T>C (p.Tyr8=) rs1747831647
NM_002454.3(MTRR):c.253T>G (p.Phe85Val)
NM_002454.3(MTRR):c.261T>C (p.Ala87=) rs138167806
NM_002454.3(MTRR):c.263del (p.His88fs)
NM_002454.3(MTRR):c.264C>T (p.His88=) rs770540418
NM_002454.3(MTRR):c.26C>G (p.Ala9Gly)
NM_002454.3(MTRR):c.270del (p.Tyr91fs) rs1579619636
NM_002454.3(MTRR):c.277T>C (p.Leu93=) rs1318273666
NM_002454.3(MTRR):c.279A>G (p.Leu93=)
NM_002454.3(MTRR):c.283+13C>T
NM_002454.3(MTRR):c.283+15C>G
NM_002454.3(MTRR):c.283+1G>A
NM_002454.3(MTRR):c.283+1_283+20del rs1748371268
NM_002454.3(MTRR):c.283+9C>T rs2126663981
NM_002454.3(MTRR):c.283+9CT[3] rs1341998318
NM_002454.3(MTRR):c.284-17G>A
NM_002454.3(MTRR):c.284-17del
NM_002454.3(MTRR):c.284-18T>C
NM_002454.3(MTRR):c.284-5T>G
NM_002454.3(MTRR):c.284-6C>T
NM_002454.3(MTRR):c.288C>G (p.Leu96=) rs35587995
NM_002454.3(MTRR):c.290del (p.Gly97fs)
NM_002454.3(MTRR):c.299A>G (p.Glu100Gly)
NM_002454.3(MTRR):c.304A>C (p.Thr102Pro)
NM_002454.3(MTRR):c.309C>T (p.Tyr103=)
NM_002454.3(MTRR):c.312T>C (p.Phe104=) rs1044244393
NM_002454.3(MTRR):c.318T>C (p.Asn106=)
NM_002454.3(MTRR):c.320G>A (p.Gly107Glu)
NM_002454.3(MTRR):c.324G>A (p.Gly108=)
NM_002454.3(MTRR):c.324del (p.Lys109fs) rs1189298981
NM_002454.3(MTRR):c.333T>C (p.Ile111=) rs2126675587
NM_002454.3(MTRR):c.340del (p.Arg114fs) rs2126675629
NM_002454.3(MTRR):c.342A>G (p.Arg114=)
NM_002454.3(MTRR):c.345T>G (p.Leu115=)
NM_002454.3(MTRR):c.348A>G (p.Gln116=)
NM_002454.3(MTRR):c.350A>G (p.Glu117Gly) rs2126675683
NM_002454.3(MTRR):c.354T>G (p.Leu118=) rs1465852233
NM_002454.3(MTRR):c.354_358del (p.Gly119fs) rs2126675707
NM_002454.3(MTRR):c.360C>T (p.Ala120=)
NM_002454.3(MTRR):c.361C>T (p.Arg121Trp)
NM_002454.3(MTRR):c.362G>A (p.Arg121Gln)
NM_002454.3(MTRR):c.369C>T (p.Phe123=)
NM_002454.3(MTRR):c.375C>T (p.Asp125=) rs757292247
NM_002454.3(MTRR):c.381A>G (p.Gly127=) rs771642983
NM_002454.3(MTRR):c.393C>T (p.Asp131=)
NM_002454.3(MTRR):c.396T>C (p.Cys132=)
NM_002454.3(MTRR):c.397G>C (p.Val133Leu) rs770923981
NM_002454.3(MTRR):c.397_398del (p.Val133fs)
NM_002454.3(MTRR):c.401+12_401+13del
NM_002454.3(MTRR):c.401+14T>A
NM_002454.3(MTRR):c.401+17C>G
NM_002454.3(MTRR):c.401+17C>T
NM_002454.3(MTRR):c.401+2_401+7del rs2126676051
NM_002454.3(MTRR):c.402-18T>C
NM_002454.3(MTRR):c.402-1G>C
NM_002454.3(MTRR):c.402-1G>T rs1734858651
NM_002454.3(MTRR):c.402-2A>G rs2126692827
NM_002454.3(MTRR):c.402-6G>T rs2126692815
NM_002454.3(MTRR):c.402-6del
NM_002454.3(MTRR):c.414G>A (p.Val138=)
NM_002454.3(MTRR):c.420G>A (p.Glu140=)
NM_002454.3(MTRR):c.423G>C (p.Pro141=) rs753947379
NM_002454.3(MTRR):c.438C>A (p.Leu146=)
NM_002454.3(MTRR):c.438C>G (p.Leu146=)
NM_002454.3(MTRR):c.438C>T (p.Leu146=)
NM_002454.3(MTRR):c.441G>A (p.Trp147Ter)
NM_002454.3(MTRR):c.449T>G (p.Leu150Arg) rs2126693065
NM_002454.3(MTRR):c.456G>A (p.Lys152=) rs1734864252
NM_002454.3(MTRR):c.462T>C (p.Phe154=) rs2126693127
NM_002454.3(MTRR):c.467C>G (p.Ser156Ter)
NM_002454.3(MTRR):c.468A>G (p.Ser156=)
NM_002454.3(MTRR):c.472A>C (p.Arg158=)
NM_002454.3(MTRR):c.477A>C (p.Gly159=) rs1270504511
NM_002454.3(MTRR):c.483G>A (p.Glu161=)
NM_002454.3(MTRR):c.485A>G (p.Glu162Gly) rs1734869328
NM_002454.3(MTRR):c.495dup (p.Ala166fs)
NM_002454.3(MTRR):c.496G>A (p.Ala166Thr)
NM_002454.3(MTRR):c.496G>T (p.Ala166Ser)
NM_002454.3(MTRR):c.499C>G (p.Leu167Val)
NM_002454.3(MTRR):c.507G>T (p.Val169=) rs367609729
NM_002454.3(MTRR):c.516T>C (p.Pro172=) rs1579656831
NM_002454.3(MTRR):c.516T>G (p.Pro172=)
NM_002454.3(MTRR):c.51C>G (p.Ala17=)
NM_002454.3(MTRR):c.51C>T (p.Ala17=)
NM_002454.3(MTRR):c.525G>A (p.Ser175=)
NM_002454.3(MTRR):c.525G>C (p.Ser175=)
NM_002454.3(MTRR):c.534C>T (p.Asp178=) rs1417585228
NM_002454.3(MTRR):c.538G>A (p.Val180Met)
NM_002454.3(MTRR):c.558C>T (p.His186=)
NM_002454.3(MTRR):c.55G>A (p.Ala19Thr)
NM_002454.3(MTRR):c.573C>G (p.Val191=) rs777364593
NM_002454.3(MTRR):c.573C>T (p.Val191=) rs777364593
NM_002454.3(MTRR):c.579T>C (p.Leu193=) rs2126694174
NM_002454.3(MTRR):c.57A>C (p.Ala19=)
NM_002454.3(MTRR):c.582G>A (p.Leu194=)
NM_002454.3(MTRR):c.589G>A (p.Asp197Asn) rs748186027
NM_002454.3(MTRR):c.591T>C (p.Asp197=)
NM_002454.3(MTRR):c.606G>A (p.Lys202=) rs368030155
NM_002454.3(MTRR):c.612T>G (p.Ser204=) rs374670570
NM_002454.3(MTRR):c.624G>A (p.Lys208=)
NM_002454.3(MTRR):c.630T>C (p.Asn210=) rs2126694596
NM_002454.3(MTRR):c.635T>C (p.Val212Ala)
NM_002454.3(MTRR):c.636G>A (p.Val212=) rs368140804
NM_002454.3(MTRR):c.636G>C (p.Val212=)
NM_002454.3(MTRR):c.645C>T (p.Asn215=) rs1734907656
NM_002454.3(MTRR):c.645_648del (p.Gln216fs)
NM_002454.3(MTRR):c.652A>C (p.Asn218His)
NM_002454.3(MTRR):c.652A>G (p.Asn218Asp)
NM_002454.3(MTRR):c.654T>C (p.Asn218=) rs770060665
NM_002454.3(MTRR):c.654T>G (p.Asn218Lys)
NM_002454.3(MTRR):c.678C>G (p.Ser226=)
NM_002454.3(MTRR):c.678C>T (p.Ser226=)
NM_002454.3(MTRR):c.681A>G (p.Ser227=) rs749515067
NM_002454.3(MTRR):c.693G>A (p.Ser231=)
NM_002454.3(MTRR):c.693G>C (p.Ser231=) rs775348918
NM_002454.3(MTRR):c.6G>A (p.Arg2=) rs560321328
NM_002454.3(MTRR):c.702A>C (p.Pro234=) rs961373750
NM_002454.3(MTRR):c.702A>G (p.Pro234=) rs961373750
NM_002454.3(MTRR):c.716C>T (p.Ser239Phe) rs371860776
NM_002454.3(MTRR):c.718_719del (p.Leu240fs) rs1207820860
NM_002454.3(MTRR):c.734del (p.Leu245fs) rs1734927527
NM_002454.3(MTRR):c.735A>G (p.Leu245=) rs1343821146
NM_002454.3(MTRR):c.738C>T (p.Pro246=)
NM_002454.3(MTRR):c.740del (p.Pro247fs) rs752858024
NM_002454.3(MTRR):c.741del (p.Glu248fs) rs1734931275
NM_002454.3(MTRR):c.753G>A (p.Gln251=)
NM_002454.3(MTRR):c.754del (p.Val252fs)
NM_002454.3(MTRR):c.75A>G (p.Gln25=) rs1553999358
NM_002454.3(MTRR):c.762G>A (p.Leu254=)
NM_002454.3(MTRR):c.780+17T>C
NM_002454.3(MTRR):c.780+17T>G
NM_002454.3(MTRR):c.780+19A>G
NM_002454.3(MTRR):c.780+19del
NM_002454.3(MTRR):c.780+8A>G rs1283751633
NM_002454.3(MTRR):c.781-2A>C
NM_002454.3(MTRR):c.781-2A>T
NM_002454.3(MTRR):c.781-4C>T rs1057521905
NM_002454.3(MTRR):c.781-5T>G rs2126727387
NM_002454.3(MTRR):c.781-6T>C
NM_002454.3(MTRR):c.781-8T>C
NM_002454.3(MTRR):c.789C>T (p.Ser263=) rs577950573
NM_002454.3(MTRR):c.794T>G (p.Val265Gly)
NM_002454.3(MTRR):c.815del (p.Pro272fs) rs2126727585
NM_002454.3(MTRR):c.816A>G (p.Pro272=)
NM_002454.3(MTRR):c.81G>A (p.Val27=) rs1361273528
NM_002454.3(MTRR):c.825A>G (p.Gln275=)
NM_002454.3(MTRR):c.829C>A (p.Pro277Thr)
NM_002454.3(MTRR):c.83T>C (p.Val28Ala)
NM_002454.3(MTRR):c.849A>G (p.Gln283=) rs1464577162
NM_002454.3(MTRR):c.850C>T (p.Leu284Phe)
NM_002454.3(MTRR):c.858G>A (p.Thr286=) rs762745815
NM_002454.3(MTRR):c.858G>C (p.Thr286=) rs762745815
NM_002454.3(MTRR):c.858G>T (p.Thr286=)
NM_002454.3(MTRR):c.860A>G (p.Asn287Ser) rs750009895
NM_002454.3(MTRR):c.861dup (p.Asp288Ter)
NM_002454.3(MTRR):c.865G>A (p.Ala289Thr) rs776031136
NM_002454.3(MTRR):c.867C>G (p.Ala289=) rs1579702611
NM_002454.3(MTRR):c.867C>T (p.Ala289=) rs1579702611
NM_002454.3(MTRR):c.873A>G (p.Lys291=) rs2126727889
NM_002454.3(MTRR):c.87T>C (p.His29=) rs1212726848
NM_002454.3(MTRR):c.882G>A (p.Leu294=)
NM_002454.3(MTRR):c.892T>C (p.Leu298=) rs758638445
NM_002454.3(MTRR):c.901del (p.Ser301fs)
NM_002454.3(MTRR):c.903+11A>G
NM_002454.3(MTRR):c.903+15T>G
NM_002454.3(MTRR):c.903+17_903+20del
NM_002454.3(MTRR):c.903+1G>A
NM_002454.3(MTRR):c.903+7T>C
NM_002454.3(MTRR):c.903+9C>T
NM_002454.3(MTRR):c.904-10T>C
NM_002454.3(MTRR):c.904-12G>T
NM_002454.3(MTRR):c.904-16T>C
NM_002454.3(MTRR):c.904-18A>G
NM_002454.3(MTRR):c.904-19C>T
NM_002454.3(MTRR):c.904-1G>T
NM_002454.3(MTRR):c.904-20T>C
NM_002454.3(MTRR):c.904-20_904-19insTC rs1554003809
NM_002454.3(MTRR):c.904-20_904-19insTTC rs1554003809
NM_002454.3(MTRR):c.904-20dup rs11398509
NM_002454.3(MTRR):c.904-2A>G
NM_002454.3(MTRR):c.904-3dup rs764339809
NM_002454.3(MTRR):c.904-4C>A
NM_002454.3(MTRR):c.908C>T (p.Thr303Ile)
NM_002454.3(MTRR):c.908_909del (p.Thr303fs)
NM_002454.3(MTRR):c.909A>G (p.Thr303=) rs747851597
NM_002454.3(MTRR):c.915T>C (p.Phe305=)
NM_002454.3(MTRR):c.916del (p.Ser306fs) rs1212701617
NM_002454.3(MTRR):c.920dup (p.Tyr307Ter)
NM_002454.3(MTRR):c.924G>A (p.Gln308=)
NM_002454.3(MTRR):c.930A>C (p.Gly310=) rs2126744786
NM_002454.3(MTRR):c.930_934del (p.Asp311fs)
NM_002454.3(MTRR):c.935C>G (p.Ala312Gly)
NM_002454.3(MTRR):c.936C>A (p.Ala312=)
NM_002454.3(MTRR):c.936C>G (p.Ala312=) rs777075473
NM_002454.3(MTRR):c.939C>T (p.Phe313=) rs1475861942
NM_002454.3(MTRR):c.943G>A (p.Val315Met)
NM_002454.3(MTRR):c.953C>T (p.Pro318Leu) rs2126745024
NM_002454.3(MTRR):c.957C>G (p.Asn319Lys)
NM_002454.3(MTRR):c.957C>T (p.Asn319=) rs2126745060
NM_002454.3(MTRR):c.966T>C (p.Ser322=)
NM_002454.3(MTRR):c.972A>C (p.Val324=)
NM_002454.3(MTRR):c.973_1146+462del
NM_002454.3(MTRR):c.976A>G (p.Ser326Gly) rs2126745139
NM_002454.3(MTRR):c.979C>T (p.Leu327=) rs2126745164
NM_002454.3(MTRR):c.981A>G (p.Leu327=)
NM_002454.3(MTRR):c.984C>G (p.Leu328=) rs752543039
NM_002454.3(MTRR):c.984C>T (p.Leu328=)
NM_002454.3(MTRR):c.993G>C (p.Leu331=) rs777698463
NM_002454.3(MTRR):c.997C>G (p.Leu333Val) rs10064631
NM_002454.3(MTRR):c.997C>T (p.Leu333Phe)
NM_002454.3(MTRR):c.99A>C (p.Ala33=) rs1747850617

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