ClinVar Miner

List of variants in gene TRMU reported by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 506
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HGVS dbSNP gnomAD frequency
NM_018006.5(TRMU):c.28G>T (p.Ala10Ser) rs11090865 0.13476
NM_018006.5(TRMU):c.1176G>A (p.Thr392=) rs34591580 0.06826
NM_018006.5(TRMU):c.1192C>T (p.Arg398Cys) rs34152016 0.03308
NM_018006.5(TRMU):c.552C>T (p.Ala184=) rs35772382 0.03164
NM_018006.5(TRMU):c.927C>T (p.Arg309=) rs9627420 0.02832
NM_018006.5(TRMU):c.249-19T>A rs57347693 0.02724
NM_018006.5(TRMU):c.442G>A (p.Glu148Lys) rs34012206 0.01506
NM_018006.5(TRMU):c.479C>T (p.Ala160Val) rs35338668 0.01380
NM_018006.5(TRMU):c.864C>T (p.Asp288=) rs61737827 0.01333
NM_018006.5(TRMU):c.83-19T>C rs7290233 0.01253
NM_018006.5(TRMU):c.652-16C>T rs73177076 0.00529
NM_018006.5(TRMU):c.387A>G (p.Ala129=) rs144586525 0.00478
NM_018006.5(TRMU):c.238G>A (p.Asp80Asn) rs55952751 0.00145
NM_018006.5(TRMU):c.296T>C (p.Ile99Thr) rs144054758 0.00108
NM_018006.5(TRMU):c.900G>T (p.Leu300=) rs113846383 0.00068
NM_018006.5(TRMU):c.75G>T (p.Arg25Ser) rs2272938 0.00065
NM_018006.5(TRMU):c.772+8G>A rs201372242 0.00048
NM_018006.5(TRMU):c.705+16T>C rs191928274 0.00040
NM_018006.5(TRMU):c.902A>G (p.Tyr301Cys) rs186961144 0.00020
NM_018006.5(TRMU):c.1106C>T (p.Ala369Val) rs111608902 0.00016
NM_018006.5(TRMU):c.1158G>A (p.Leu386=) rs79874854 0.00013
NM_018006.5(TRMU):c.835G>A (p.Val279Met) rs387907022 0.00011
NM_018006.5(TRMU):c.910C>G (p.Leu304Val) rs200777988 0.00011
NM_018006.5(TRMU):c.1188C>G (p.Gly396=) rs142346622 0.00009
NM_018006.5(TRMU):c.351T>C (p.Asn117=) rs117710834 0.00009
NM_018006.5(TRMU):c.479-10T>C rs202070165 0.00009
NM_018006.5(TRMU):c.83-9C>T rs374612111 0.00008
NM_018006.5(TRMU):c.1018+9C>T rs373346869 0.00006
NM_018006.5(TRMU):c.1154G>A (p.Arg385Gln) rs373471059 0.00006
NM_018006.5(TRMU):c.248+9G>A rs369189631 0.00006
NM_018006.5(TRMU):c.672C>T (p.Ile224=) rs775866695 0.00006
NM_018006.5(TRMU):c.21C>T (p.Val7=) rs547049690 0.00005
NM_018006.5(TRMU):c.873+11C>T rs373365569 0.00005
NM_018006.5(TRMU):c.1053C>T (p.Thr351=) rs374614222 0.00004
NM_018006.5(TRMU):c.1164G>A (p.Pro388=) rs202047181 0.00004
NM_018006.5(TRMU):c.1218C>T (p.Ser406=) rs754239335 0.00004
NM_018006.5(TRMU):c.30C>T (p.Ala10=) rs776692221 0.00004
NM_018006.5(TRMU):c.429C>T (p.His143=) rs746421213 0.00004
NM_018006.5(TRMU):c.773-4G>A rs368787983 0.00004
NM_018006.5(TRMU):c.834C>T (p.Tyr278=) rs772935887 0.00004
NM_018006.5(TRMU):c.873+12G>A rs540183174 0.00004
NM_018006.5(TRMU):c.1140C>T (p.Ser380=) rs142734733 0.00003
NM_018006.5(TRMU):c.1246G>T (p.Gly416Cys) rs150043707 0.00003
NM_018006.5(TRMU):c.150C>T (p.Ala50=) rs150076605 0.00003
NM_018006.5(TRMU):c.219C>T (p.Tyr73=) rs151165174 0.00003
NM_018006.5(TRMU):c.461G>A (p.Arg154Gln) rs200963587 0.00003
NM_018006.5(TRMU):c.773-6C>T rs375373378 0.00003
NM_018006.5(TRMU):c.83-11C>A rs1057523042 0.00003
NM_018006.5(TRMU):c.918G>C (p.Arg306Ser) rs776261187 0.00003
NM_018006.5(TRMU):c.1019-4C>G rs375748880 0.00002
NM_018006.5(TRMU):c.1062G>A (p.Val354=) rs368415197 0.00002
NM_018006.5(TRMU):c.1102-3C>G rs753039116 0.00002
NM_018006.5(TRMU):c.1137C>T (p.Gly379=) rs936585922 0.00002
NM_018006.5(TRMU):c.1242T>G (p.Gly414=) rs780243289 0.00002
NM_018006.5(TRMU):c.189C>T (p.Ile63=) rs372011214 0.00002
NM_018006.5(TRMU):c.18C>T (p.His6=) rs527315924 0.00002
NM_018006.5(TRMU):c.249-2A>G rs768299416 0.00002
NM_018006.5(TRMU):c.272A>G (p.Lys91Arg) rs138044544 0.00002
NM_018006.5(TRMU):c.356-8C>T rs775676239 0.00002
NM_018006.5(TRMU):c.388A>C (p.Arg130=) rs374760475 0.00002
NM_018006.5(TRMU):c.393T>C (p.Thr131=) rs780629261 0.00002
NM_018006.5(TRMU):c.513A>G (p.Lys171=) rs370101399 0.00002
NM_018006.5(TRMU):c.680G>C (p.Arg227Thr) rs764622793 0.00002
NM_018006.5(TRMU):c.83-4G>A rs369925943 0.00002
NM_018006.5(TRMU):c.96_97del (p.Phe35fs) rs762738569 0.00002
NM_018006.5(TRMU):c.994C>T (p.Arg332Ter) rs759790041 0.00002
NM_018006.5(TRMU):c.1018+10G>A rs547903528 0.00001
NM_018006.5(TRMU):c.1019-8C>T rs761972583 0.00001
NM_018006.5(TRMU):c.1029G>A (p.Val343=) rs370887789 0.00001
NM_018006.5(TRMU):c.1065A>C (p.Thr355=) rs779820950 0.00001
NM_018006.5(TRMU):c.1101+8G>A rs760477689 0.00001
NM_018006.5(TRMU):c.1101+8G>C rs760477689 0.00001
NM_018006.5(TRMU):c.1102-8C>T rs767170283 0.00001
NM_018006.5(TRMU):c.1125C>T (p.Asp375=) rs779022860 0.00001
NM_018006.5(TRMU):c.1141G>A (p.Gly381Arg) rs766403441 0.00001
NM_018006.5(TRMU):c.1167T>A (p.Ser389=) rs1439694205 0.00001
NM_018006.5(TRMU):c.1179C>A (p.Leu393=) rs758422739 0.00001
NM_018006.5(TRMU):c.117G>A (p.Trp39Ter) rs1174791046 0.00001
NM_018006.5(TRMU):c.1239T>C (p.Asp413=) rs758409354 0.00001
NM_018006.5(TRMU):c.1249C>T (p.Leu417=) rs781526230 0.00001
NM_018006.5(TRMU):c.1263C>G (p.Leu421=) rs770796290 0.00001
NM_018006.5(TRMU):c.2T>G (p.Met1Arg) rs118203992 0.00001
NM_018006.5(TRMU):c.355+7A>G rs1601948732 0.00001
NM_018006.5(TRMU):c.369T>C (p.Ile123=) rs546183296 0.00001
NM_018006.5(TRMU):c.42C>G (p.Gly14=) rs755309787 0.00001
NM_018006.5(TRMU):c.468A>G (p.Glu156=) rs1277917046 0.00001
NM_018006.5(TRMU):c.471T>C (p.Val157=) rs760397893 0.00001
NM_018006.5(TRMU):c.478+10T>C rs766252898 0.00001
NM_018006.5(TRMU):c.492C>T (p.Leu164=) rs1282745969 0.00001
NM_018006.5(TRMU):c.543C>G (p.Ser181=) rs1279588683 0.00001
NM_018006.5(TRMU):c.576G>C (p.Leu192=) rs1319509730 0.00001
NM_018006.5(TRMU):c.579G>T (p.Gly193=) rs1294405938 0.00001
NM_018006.5(TRMU):c.585A>G (p.Leu195=) rs751921757 0.00001
NM_018006.5(TRMU):c.588G>A (p.Thr196=) rs1217590092 0.00001
NM_018006.5(TRMU):c.63G>C (p.Ala21=) rs2077957097 0.00001
NM_018006.5(TRMU):c.651+9G>A rs1006261196 0.00001
NM_018006.5(TRMU):c.655A>G (p.Met219Val) rs747904726 0.00001
NM_018006.5(TRMU):c.669C>T (p.Phe223=) rs759299447 0.00001
NM_018006.5(TRMU):c.69G>T (p.Leu23=) rs781594419 0.00001
NM_018006.5(TRMU):c.705+10del rs1569081805 0.00001
NM_018006.5(TRMU):c.705+8C>G rs780158018 0.00001
NM_018006.5(TRMU):c.718C>T (p.Arg240Ter) rs367683258 0.00001
NM_018006.5(TRMU):c.732T>C (p.Phe244=) rs1216938218 0.00001
NM_018006.5(TRMU):c.738C>T (p.Ser246=) rs748506614 0.00001
NM_018006.5(TRMU):c.759G>A (p.Leu253=) rs774639729 0.00001
NM_018006.5(TRMU):c.773-8T>G rs754502289 0.00001
NM_018006.5(TRMU):c.803del (p.Ala268fs) rs745338284 0.00001
NM_018006.5(TRMU):c.807C>T (p.Asn269=) rs1341991123 0.00001
NM_018006.5(TRMU):c.83-2A>G rs747853875 0.00001
NM_018006.5(TRMU):c.83-5C>T rs758628820 0.00001
NM_018006.5(TRMU):c.852C>T (p.Ser284=) rs1601986081 0.00001
NM_018006.5(TRMU):c.870T>C (p.Phe290=) rs757601896 0.00001
NM_018006.5(TRMU):c.874-9A>G rs755021903 0.00001
NM_018006.5(TRMU):c.879C>T (p.Pro293=) rs781401971 0.00001
NM_018006.5(TRMU):c.921C>G (p.Thr307=) rs1442279659 0.00001
NM_018006.5(TRMU):c.930G>A (p.Val310=) rs1341680061 0.00001
NM_018006.5(TRMU):c.948G>A (p.Glu316=) rs199817617 0.00001
NM_018006.5(TRMU):c.954C>T (p.Pro318=) rs758271660 0.00001
NC_000022.11:g.(?_46335391)_(46335856_?)del
NC_000022.11:g.(?_46343252)_(46343378_?)del
NM_018006.5(TRMU):c.1001G>A (p.Arg334His)
NM_018006.5(TRMU):c.1002C>T (p.Arg334=) rs764202891
NM_018006.5(TRMU):c.1014A>C (p.Ala338=)
NM_018006.5(TRMU):c.1017_1018+6del
NM_018006.5(TRMU):c.1018+12G>C
NM_018006.5(TRMU):c.1018+15G>A
NM_018006.5(TRMU):c.1018+17C>T
NM_018006.5(TRMU):c.1018+19C>T
NM_018006.5(TRMU):c.1018+19_1018+21del
NM_018006.5(TRMU):c.1018+1G>A
NM_018006.5(TRMU):c.1018+7G>C rs1601997075
NM_018006.5(TRMU):c.1019-11C>T
NM_018006.5(TRMU):c.1019-13C>G
NM_018006.5(TRMU):c.1019-15C>T
NM_018006.5(TRMU):c.1019-18C>T
NM_018006.5(TRMU):c.1019-1G>A rs773484808
NM_018006.5(TRMU):c.1019-8C>G rs761972583
NM_018006.5(TRMU):c.1023C>T (p.Pro341=)
NM_018006.5(TRMU):c.102G>A (p.Val34=) rs1426898716
NM_018006.5(TRMU):c.1035C>A (p.Thr345=)
NM_018006.5(TRMU):c.1035C>T (p.Thr345=) rs1171975938
NM_018006.5(TRMU):c.1041_1044del (p.Asn347fs)
NM_018006.5(TRMU):c.1041_1044dup (p.Asp349fs)
NM_018006.5(TRMU):c.1045del (p.Asp349fs)
NM_018006.5(TRMU):c.1053C>A (p.Thr351=) rs374614222
NM_018006.5(TRMU):c.105T>C (p.Phe35=)
NM_018006.5(TRMU):c.1062dup (p.Thr355fs)
NM_018006.5(TRMU):c.1065A>G (p.Thr355=)
NM_018006.5(TRMU):c.1073_1081dup (p.Gln358_Val360dup) rs753112330
NM_018006.5(TRMU):c.1080G>A (p.Val360=)
NM_018006.5(TRMU):c.1084G>A (p.Ala362Thr)
NM_018006.5(TRMU):c.1086C>T (p.Ala362=) rs1198548459
NM_018006.5(TRMU):c.1089T>C (p.Leu363=)
NM_018006.5(TRMU):c.1095A>G (p.Thr365=)
NM_018006.5(TRMU):c.1101+10G>A rs2147117634
NM_018006.5(TRMU):c.1101+12G>A
NM_018006.5(TRMU):c.1101+14G>A
NM_018006.5(TRMU):c.1101+14G>T
NM_018006.5(TRMU):c.1101+15G>A
NM_018006.5(TRMU):c.1101+17G>A
NM_018006.5(TRMU):c.1101+20G>A
NM_018006.5(TRMU):c.1101+20dup
NM_018006.5(TRMU):c.1101+6dup rs2147117577
NM_018006.5(TRMU):c.1101+7G>A
NM_018006.5(TRMU):c.1101+9G>A rs2078598699
NM_018006.5(TRMU):c.1101+9G>C
NM_018006.5(TRMU):c.1101+9G>T
NM_018006.5(TRMU):c.1102-14T>A
NM_018006.5(TRMU):c.1102-14T>C
NM_018006.5(TRMU):c.1102-15G>A
NM_018006.5(TRMU):c.1102-15del
NM_018006.5(TRMU):c.1102-16G>C
NM_018006.5(TRMU):c.1102-17G>A
NM_018006.5(TRMU):c.1102-18A>C
NM_018006.5(TRMU):c.1102-20C>G
NM_018006.5(TRMU):c.1102-4A>G
NM_018006.5(TRMU):c.1102-5T>G rs2147123072
NM_018006.5(TRMU):c.1102-7C>T rs2147123053
NM_018006.5(TRMU):c.1102-9C>T
NM_018006.5(TRMU):c.1104T>C (p.Phe368=)
NM_018006.5(TRMU):c.1107T>C (p.Ala369=)
NM_018006.5(TRMU):c.1110G>A (p.Val370=) rs749736371
NM_018006.5(TRMU):c.1119G>A (p.Lys373=)
NM_018006.5(TRMU):c.1122G>T (p.Gly374=)
NM_018006.5(TRMU):c.1131C>T (p.Cys377=) rs775741824
NM_018006.5(TRMU):c.1132C>T (p.Leu378=) rs543588594
NM_018006.5(TRMU):c.1142G>A (p.Gly381Glu) rs774047684
NM_018006.5(TRMU):c.1146G>A (p.Lys382=)
NM_018006.5(TRMU):c.1149C>A (p.Ile383=) rs1399546371
NM_018006.5(TRMU):c.1149C>T (p.Ile383=) rs1399546371
NM_018006.5(TRMU):c.1150C>T (p.Leu384=)
NM_018006.5(TRMU):c.1152G>A (p.Leu384=) rs1328864215
NM_018006.5(TRMU):c.1153C>T (p.Arg385Trp)
NM_018006.5(TRMU):c.1156C>T (p.Leu386=) rs1376584340
NM_018006.5(TRMU):c.1161G>T (p.Gly387=) rs756441293
NM_018006.5(TRMU):c.1170C>T (p.Ala390=)
NM_018006.5(TRMU):c.1176G>T (p.Thr392=) rs34591580
NM_018006.5(TRMU):c.1185G>A (p.Lys395=) rs1569091253
NM_018006.5(TRMU):c.1188C>T (p.Gly396=)
NM_018006.5(TRMU):c.1191G>A (p.Gln397=)
NM_018006.5(TRMU):c.1200T>G (p.Ala400=)
NM_018006.5(TRMU):c.1203G>A (p.Gly401=) rs201138484
NM_018006.5(TRMU):c.1203G>C (p.Gly401=)
NM_018006.5(TRMU):c.1203G>T (p.Gly401=)
NM_018006.5(TRMU):c.1221C>G (p.Pro407=)
NM_018006.5(TRMU):c.1221C>T (p.Pro407=)
NM_018006.5(TRMU):c.1227C>T (p.Asp409=) rs1264984085
NM_018006.5(TRMU):c.1230C>T (p.Ser410=) rs750870324
NM_018006.5(TRMU):c.1232C>T (p.Pro411Leu)
NM_018006.5(TRMU):c.1233A>T (p.Pro411=) rs1193414283
NM_018006.5(TRMU):c.123A>G (p.Ser41=)
NM_018006.5(TRMU):c.124C>T (p.Leu42=) rs749302637
NM_018006.5(TRMU):c.1257C>G (p.Pro419=)
NM_018006.5(TRMU):c.1257C>T (p.Pro419=) rs2078633734
NM_018006.5(TRMU):c.1260G>A (p.Leu420=)
NM_018006.5(TRMU):c.141C>G (p.Val47=)
NM_018006.5(TRMU):c.162_163del (p.Cys54_Glu55delinsTer)
NM_018006.5(TRMU):c.172_173dup (p.Arg59fs) rs2147853237
NM_018006.5(TRMU):c.173dup (p.Tyr58Ter)
NM_018006.5(TRMU):c.184C>T (p.Gln62Ter)
NM_018006.5(TRMU):c.186G>A (p.Gln62=)
NM_018006.5(TRMU):c.198C>T (p.Ile66=)
NM_018006.5(TRMU):c.216C>T (p.Ser72=)
NM_018006.5(TRMU):c.21C>A (p.Val7=) rs547049690
NM_018006.5(TRMU):c.228G>A (p.Glu76=)
NM_018006.5(TRMU):c.229T>C (p.Tyr77His) rs118203990
NM_018006.5(TRMU):c.231T>C (p.Tyr77=)
NM_018006.5(TRMU):c.234G>A (p.Trp78Ter)
NM_018006.5(TRMU):c.243G>A (p.Val81=) rs2147853544
NM_018006.5(TRMU):c.244T>G (p.Phe82Val)
NM_018006.5(TRMU):c.248+13C>A
NM_018006.5(TRMU):c.248+15C>T
NM_018006.5(TRMU):c.248+17G>A
NM_018006.5(TRMU):c.248+1G>A
NM_018006.5(TRMU):c.248+7G>A
NM_018006.5(TRMU):c.248+8C>T
NM_018006.5(TRMU):c.248+9_248+18del rs763718617
NM_018006.5(TRMU):c.249-12C>A
NM_018006.5(TRMU):c.249-4C>G rs28413538
NM_018006.5(TRMU):c.249-7_249-5dup
NM_018006.5(TRMU):c.24G>T (p.Val8=)
NM_018006.5(TRMU):c.260_263del (p.Asn87fs)
NM_018006.5(TRMU):c.264G>A (p.Glu88=) rs200574410
NM_018006.5(TRMU):c.270A>G (p.Glu90=) rs2147868614
NM_018006.5(TRMU):c.278G>A (p.Arg93Lys)
NM_018006.5(TRMU):c.27C>A (p.Cys9Ter)
NM_018006.5(TRMU):c.27C>T (p.Cys9=) rs1297282365
NM_018006.5(TRMU):c.282T>G (p.Thr94=) rs2147868681
NM_018006.5(TRMU):c.285C>A (p.Pro95=)
NM_018006.5(TRMU):c.285C>T (p.Pro95=)
NM_018006.5(TRMU):c.290_327dup (p.Phe110delinsLeuThrTer) rs1226116719
NM_018006.5(TRMU):c.294C>T (p.Asp98=)
NM_018006.5(TRMU):c.2T>C (p.Met1Thr) rs118203992
NM_018006.5(TRMU):c.30C>G (p.Ala10=) rs776692221
NM_018006.5(TRMU):c.324T>C (p.Ser108=)
NM_018006.5(TRMU):c.333dup (p.His112fs) rs756600903
NM_018006.5(TRMU):c.335_336del (p.His112fs)
NM_018006.5(TRMU):c.33G>A (p.Leu11=) rs2147846193
NM_018006.5(TRMU):c.355+10T>C
NM_018006.5(TRMU):c.355+11T>A
NM_018006.5(TRMU):c.355+13G>A
NM_018006.5(TRMU):c.355+13G>T
NM_018006.5(TRMU):c.355+15T>C
NM_018006.5(TRMU):c.355+18A>G
NM_018006.5(TRMU):c.355+19A>G
NM_018006.5(TRMU):c.355+1G>A rs1407825579
NM_018006.5(TRMU):c.355+1G>C rs1407825579
NM_018006.5(TRMU):c.355+1G>T
NM_018006.5(TRMU):c.355+20A>T
NM_018006.5(TRMU):c.355+2T>C rs2078172984
NM_018006.5(TRMU):c.355+7A>C rs1601948732
NM_018006.5(TRMU):c.355_355+1delinsTT
NM_018006.5(TRMU):c.356-13A>G
NM_018006.5(TRMU):c.356-2_356-1del rs2147053913
NM_018006.5(TRMU):c.357G>A (p.Gly119=)
NM_018006.5(TRMU):c.36C>G (p.Ser12=)
NM_018006.5(TRMU):c.36C>T (p.Ser12=) rs764802781
NM_018006.5(TRMU):c.372C>G (p.Ala124=)
NM_018006.5(TRMU):c.381C>T (p.His127=) rs2147054152
NM_018006.5(TRMU):c.396C>T (p.Ser132=) rs2147054275
NM_018006.5(TRMU):c.397del (p.Leu133fs)
NM_018006.5(TRMU):c.39C>G (p.Gly13=) rs762544346
NM_018006.5(TRMU):c.39C>T (p.Gly13=) rs762544346
NM_018006.5(TRMU):c.402A>G (p.Glu134=)
NM_018006.5(TRMU):c.408A>G (p.Glu136=)
NM_018006.5(TRMU):c.409G>T (p.Glu137Ter)
NM_018006.5(TRMU):c.417T>C (p.Phe139=) rs935322761
NM_018006.5(TRMU):c.417del (p.Phe139fs) rs2078261207
NM_018006.5(TRMU):c.417dup (p.Glu140Ter)
NM_018006.5(TRMU):c.418dup (p.Glu140fs) rs1447532733
NM_018006.5(TRMU):c.426G>A (p.Lys142=)
NM_018006.5(TRMU):c.428_459dup (p.Arg154fs) rs2147054656
NM_018006.5(TRMU):c.438G>A (p.Lys146=)
NM_018006.5(TRMU):c.441C>A (p.Pro147=)
NM_018006.5(TRMU):c.441C>G (p.Pro147=)
NM_018006.5(TRMU):c.441C>T (p.Pro147=) rs760758182
NM_018006.5(TRMU):c.444A>G (p.Glu148=) rs776871940
NM_018006.5(TRMU):c.458del (p.Asn153fs)
NM_018006.5(TRMU):c.462G>A (p.Arg154=) rs2078262908
NM_018006.5(TRMU):c.463T>C (p.Phe155Leu)
NM_018006.5(TRMU):c.478+11G>A
NM_018006.5(TRMU):c.478+14C>G
NM_018006.5(TRMU):c.478+14C>T
NM_018006.5(TRMU):c.478+16C>T
NM_018006.5(TRMU):c.478+17A>G
NM_018006.5(TRMU):c.478+18G>A
NM_018006.5(TRMU):c.478+19G>A
NM_018006.5(TRMU):c.478+1G>A rs1569072157
NM_018006.5(TRMU):c.478+20T>C
NM_018006.5(TRMU):c.478+9A>C
NM_018006.5(TRMU):c.478+9A>G rs1425313730
NM_018006.5(TRMU):c.479-15C>A
NM_018006.5(TRMU):c.479-17T>C
NM_018006.5(TRMU):c.479-18G>A
NM_018006.5(TRMU):c.479-18G>C
NM_018006.5(TRMU):c.479-4G>A
NM_018006.5(TRMU):c.479-5G>C rs2147079481
NM_018006.5(TRMU):c.479-9T>C
NM_018006.5(TRMU):c.481_483delinsAT (p.Val161fs) rs2078377046
NM_018006.5(TRMU):c.483A>C (p.Val161=)
NM_018006.5(TRMU):c.483A>G (p.Val161=)
NM_018006.5(TRMU):c.489C>G (p.Leu163=) rs1360414657
NM_018006.5(TRMU):c.48C>T (p.Asp16=)
NM_018006.5(TRMU):c.490del (p.Leu164fs) rs1601968978
NM_018006.5(TRMU):c.4C>T (p.Gln2Ter) rs1464059546
NM_018006.5(TRMU):c.51C>T (p.Ser17=)
NM_018006.5(TRMU):c.525C>T (p.Phe175=)
NM_018006.5(TRMU):c.534C>T (p.Ser178=)
NM_018006.5(TRMU):c.537G>A (p.Gln179=)
NM_018006.5(TRMU):c.541_542dup (p.Gln182fs)
NM_018006.5(TRMU):c.543C>T (p.Ser181=)
NM_018006.5(TRMU):c.544C>T (p.Gln182Ter)
NM_018006.5(TRMU):c.54C>G (p.Ala18=)
NM_018006.5(TRMU):c.567C>G (p.Ile189Met) rs192537315
NM_018006.5(TRMU):c.567C>T (p.Ile189=) rs192537315
NM_018006.5(TRMU):c.570C>T (p.Phe190=)
NM_018006.5(TRMU):c.573T>C (p.Pro191=) rs1215622070
NM_018006.5(TRMU):c.574C>T (p.Leu192=)
NM_018006.5(TRMU):c.574_575dup (p.Gly193fs)
NM_018006.5(TRMU):c.577G>T (p.Gly193Trp)
NM_018006.5(TRMU):c.581del (p.Gly194fs) rs763926467
NM_018006.5(TRMU):c.581dup (p.Leu195fs)
NM_018006.5(TRMU):c.584dup (p.Leu195fs)
NM_018006.5(TRMU):c.594G>A (p.Glu198=)
NM_018006.5(TRMU):c.597T>C (p.Phe199=) rs2147081080
NM_018006.5(TRMU):c.597del (p.Phe199fs) rs2147081045
NM_018006.5(TRMU):c.609C>T (p.Ile203=)
NM_018006.5(TRMU):c.621T>C (p.Asn207=)
NM_018006.5(TRMU):c.633T>C (p.His211=) rs1171040431
NM_018006.5(TRMU):c.63G>A (p.Ala21=)
NM_018006.5(TRMU):c.63G>T (p.Ala21=)
NM_018006.5(TRMU):c.648A>G (p.Lys216=) rs2147081533
NM_018006.5(TRMU):c.648_649AG[1] (p.Ser218fs)
NM_018006.5(TRMU):c.651+14G>C
NM_018006.5(TRMU):c.651+15T>C
NM_018006.5(TRMU):c.651+19C>T
NM_018006.5(TRMU):c.651+1G>T
NM_018006.5(TRMU):c.651+4C>T
NM_018006.5(TRMU):c.651+8T>C rs1601969928
NM_018006.5(TRMU):c.652-10C>T rs2147094602
NM_018006.5(TRMU):c.652-12T>C
NM_018006.5(TRMU):c.652-15G>A
NM_018006.5(TRMU):c.652-17C>T
NM_018006.5(TRMU):c.652-18G>A
NM_018006.5(TRMU):c.652-18G>C
NM_018006.5(TRMU):c.652-19T>C
NM_018006.5(TRMU):c.652-20C>T
NM_018006.5(TRMU):c.652-4dup rs2078446931
NM_018006.5(TRMU):c.660C>T (p.Gly220=)
NM_018006.5(TRMU):c.665G>A (p.Cys222Tyr)
NM_018006.5(TRMU):c.678G>A (p.Lys226=) rs2078448407
NM_018006.5(TRMU):c.679A>C (p.Arg227=) rs760970848
NM_018006.5(TRMU):c.67C>T (p.Leu23=) rs2147846414
NM_018006.5(TRMU):c.692_705dup (p.Tyr236fs)
NM_018006.5(TRMU):c.695del (p.Phe232fs)
NM_018006.5(TRMU):c.69del (p.Leu23_Leu24insTer) rs2077957264
NM_018006.5(TRMU):c.6G>A (p.Gln2=) rs758055404
NM_018006.5(TRMU):c.703C>T (p.Gln235Ter) rs1800386420
NM_018006.5(TRMU):c.705+10G>A rs1440658479
NM_018006.5(TRMU):c.705+15T>C
NM_018006.5(TRMU):c.705+1G>T
NM_018006.5(TRMU):c.705+7G>A
NM_018006.5(TRMU):c.705+7G>C rs770523434
NM_018006.5(TRMU):c.705+8C>T rs780158018
NM_018006.5(TRMU):c.706-15A>G
NM_018006.5(TRMU):c.706-16C>T
NM_018006.5(TRMU):c.706-1G>A rs778799889
NM_018006.5(TRMU):c.706-1G>C rs778799889
NM_018006.5(TRMU):c.706-4C>T
NM_018006.5(TRMU):c.711G>A (p.Leu237=)
NM_018006.5(TRMU):c.711dup (p.Gln238fs)
NM_018006.5(TRMU):c.712C>T (p.Gln238Ter)
NM_018006.5(TRMU):c.729C>T (p.His243=) rs777199739
NM_018006.5(TRMU):c.732dup (p.Ile245fs) rs2147095810
NM_018006.5(TRMU):c.749dup (p.Asn250fs) rs2147095916
NM_018006.5(TRMU):c.750T>C (p.Asn250=) rs886044298
NM_018006.5(TRMU):c.753G>A (p.Lys251=) rs1381046312
NM_018006.5(TRMU):c.756T>C (p.Val252=) rs2147096012
NM_018006.5(TRMU):c.768T>C (p.His256=) rs1555899299
NM_018006.5(TRMU):c.772+13C>T
NM_018006.5(TRMU):c.772+15_772+16del
NM_018006.5(TRMU):c.772+17G>A
NM_018006.5(TRMU):c.772+19C>T
NM_018006.5(TRMU):c.772+20A>G
NM_018006.5(TRMU):c.772+20dup
NM_018006.5(TRMU):c.772+2T>G rs2147096093
NM_018006.5(TRMU):c.772+7T>G
NM_018006.5(TRMU):c.772+9C>G rs2147096108
NM_018006.5(TRMU):c.773-10C>T
NM_018006.5(TRMU):c.773-12G>A
NM_018006.5(TRMU):c.773-12G>C
NM_018006.5(TRMU):c.773-12_773-9del rs863224241
NM_018006.5(TRMU):c.773-13T>C
NM_018006.5(TRMU):c.773-16A>G
NM_018006.5(TRMU):c.773-17A>G
NM_018006.5(TRMU):c.783G>A (p.Leu261=)
NM_018006.5(TRMU):c.786T>C (p.Tyr262=)
NM_018006.5(TRMU):c.789C>T (p.Thr263=) rs2078509463
NM_018006.5(TRMU):c.790T>C (p.Leu264=)
NM_018006.5(TRMU):c.79A>C (p.Arg27=) rs1167225464
NM_018006.5(TRMU):c.800G>C (p.Arg267Thr)
NM_018006.5(TRMU):c.804A>C (p.Ala268=)
NM_018006.5(TRMU):c.806dup (p.Asn269fs)
NM_018006.5(TRMU):c.809_810del (p.Ile270fs)
NM_018006.5(TRMU):c.810A>C (p.Ile270=)
NM_018006.5(TRMU):c.816C>A (p.Gly272=)
NM_018006.5(TRMU):c.817C>T (p.Leu273=) rs2147103373
NM_018006.5(TRMU):c.819G>C (p.Leu273=) rs2147103380
NM_018006.5(TRMU):c.81_82del (p.Gly28fs)
NM_018006.5(TRMU):c.82+10C>T rs779246852
NM_018006.5(TRMU):c.82+12G>A
NM_018006.5(TRMU):c.82+14G>A
NM_018006.5(TRMU):c.82+15G>A
NM_018006.5(TRMU):c.82+15del
NM_018006.5(TRMU):c.82+18C>G
NM_018006.5(TRMU):c.82+20C>T
NM_018006.5(TRMU):c.82+5G>A
NM_018006.5(TRMU):c.82+8G>A rs1601929107
NM_018006.5(TRMU):c.82+9T>C rs2147846554
NM_018006.5(TRMU):c.824_825dup (p.Pro276fs) rs1191230933
NM_018006.5(TRMU):c.83-10C>G rs2078016326
NM_018006.5(TRMU):c.83-15C>A
NM_018006.5(TRMU):c.83-15C>T
NM_018006.5(TRMU):c.83-17G>C
NM_018006.5(TRMU):c.83-18T>G
NM_018006.5(TRMU):c.83-19T>A
NM_018006.5(TRMU):c.83-2A>C rs747853875
NM_018006.5(TRMU):c.83-8G>A rs2147852866
NM_018006.5(TRMU):c.840G>T (p.Val280=)
NM_018006.5(TRMU):c.843G>A (p.Glu281=)
NM_018006.5(TRMU):c.849C>T (p.Asp283=)
NM_018006.5(TRMU):c.855C>T (p.Val285=) rs767071987
NM_018006.5(TRMU):c.867G>A (p.Val289=) rs1306512461
NM_018006.5(TRMU):c.873+19G>T
NM_018006.5(TRMU):c.873+7G>T
NM_018006.5(TRMU):c.873+8G>A
NM_018006.5(TRMU):c.874-10C>T rs1943618504
NM_018006.5(TRMU):c.874-11C>G
NM_018006.5(TRMU):c.874-12T>G
NM_018006.5(TRMU):c.874-13T>A
NM_018006.5(TRMU):c.874-15C>T
NM_018006.5(TRMU):c.874-16A>G
NM_018006.5(TRMU):c.874-16A>T
NM_018006.5(TRMU):c.874-2A>G
NM_018006.5(TRMU):c.874-6C>T
NM_018006.5(TRMU):c.876C>G (p.Ala292=)
NM_018006.5(TRMU):c.87C>G (p.Tyr29Ter) rs769668643
NM_018006.5(TRMU):c.87C>T (p.Tyr29=) rs769668643
NM_018006.5(TRMU):c.880_898del (p.Arg294fs) rs774153227
NM_018006.5(TRMU):c.880del (p.Arg294fs) rs1490906786
NM_018006.5(TRMU):c.880dup (p.Arg294fs)
NM_018006.5(TRMU):c.882G>A (p.Arg294=)
NM_018006.5(TRMU):c.882dup (p.Thr295fs)
NM_018006.5(TRMU):c.885A>G (p.Thr295=) rs2147113254
NM_018006.5(TRMU):c.894A>C (p.Pro298=) rs1301900403
NM_018006.5(TRMU):c.894A>G (p.Pro298=) rs1301900403
NM_018006.5(TRMU):c.897C>G (p.Ala299=)
NM_018006.5(TRMU):c.897C>T (p.Ala299=) rs1308385346
NM_018006.5(TRMU):c.900G>C (p.Leu300=) rs113846383
NM_018006.5(TRMU):c.903C>T (p.Tyr301=) rs779868712
NM_018006.5(TRMU):c.906_907del (p.Asp303fs)
NM_018006.5(TRMU):c.909C>T (p.Asp303=) rs2147113496
NM_018006.5(TRMU):c.914_941dup (p.Glu316fs)
NM_018006.5(TRMU):c.915G>A (p.Leu305=) rs1418397219
NM_018006.5(TRMU):c.921C>T (p.Thr307=) rs1442279659
NM_018006.5(TRMU):c.935G>A (p.Trp312Ter)
NM_018006.5(TRMU):c.936G>A (p.Trp312Ter)
NM_018006.5(TRMU):c.936dup (p.Ile313fs)
NM_018006.5(TRMU):c.942G>C (p.Ala314=)
NM_018006.5(TRMU):c.942G>T (p.Ala314=) rs767891094
NM_018006.5(TRMU):c.943G>T (p.Glu315Ter) rs2147113826
NM_018006.5(TRMU):c.946G>T (p.Glu316Ter)
NM_018006.5(TRMU):c.954_957dup (p.Ala320fs)
NM_018006.5(TRMU):c.954dup (p.Ala319fs) rs863224242
NM_018006.5(TRMU):c.958del (p.Ala320fs) rs2078575287
NM_018006.5(TRMU):c.960A>G (p.Ala320=)
NM_018006.5(TRMU):c.963G>A (p.Leu321=) rs201210055
NM_018006.5(TRMU):c.963G>C (p.Leu321=) rs201210055
NM_018006.5(TRMU):c.963G>T (p.Leu321=)
NM_018006.5(TRMU):c.967C>T (p.Arg323Trp)
NM_018006.5(TRMU):c.96A>G (p.Thr32=) rs2147852935
NM_018006.5(TRMU):c.972C>T (p.Asp324=)
NM_018006.5(TRMU):c.987C>T (p.Cys329=) rs2147114137
NM_018006.5(TRMU):c.99G>A (p.Gly33=) rs1569060096
NM_018006.5(TRMU):c.9C>T (p.Ala3=) rs75417986
NM_018006.5(TRMU):c.9_10delinsGG (p.Leu4Val) rs386822018

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