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
|
|
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NM_018006.5(TRMU):c.82+15G>A
|
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NM_018006.5(TRMU):c.82+15del
|
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|
NM_018006.5(TRMU):c.82+18C>G
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NM_018006.5(TRMU):c.82+20C>T
|
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NM_018006.5(TRMU):c.82+5G>A
|
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NM_018006.5(TRMU):c.82+8G>A
|
rs1601929107
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NM_018006.5(TRMU):c.82+9T>C
|
rs2147846554
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NM_018006.5(TRMU):c.824_825dup (p.Pro276fs)
|
rs1191230933
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NM_018006.5(TRMU):c.83-10C>G
|
rs2078016326
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NM_018006.5(TRMU):c.83-15C>A
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NM_018006.5(TRMU):c.83-15C>T
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NM_018006.5(TRMU):c.83-17G>C
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NM_018006.5(TRMU):c.83-18T>G
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|
|
NM_018006.5(TRMU):c.83-19T>A
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|
NM_018006.5(TRMU):c.83-2A>C
|
rs747853875
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NM_018006.5(TRMU):c.83-8G>A
|
rs2147852866
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NM_018006.5(TRMU):c.840G>T (p.Val280=)
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|
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NM_018006.5(TRMU):c.843G>A (p.Glu281=)
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NM_018006.5(TRMU):c.849C>T (p.Asp283=)
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|
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NM_018006.5(TRMU):c.855C>T (p.Val285=)
|
rs767071987
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NM_018006.5(TRMU):c.867G>A (p.Val289=)
|
rs1306512461
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NM_018006.5(TRMU):c.873+19G>T
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NM_018006.5(TRMU):c.873+7G>T
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NM_018006.5(TRMU):c.873+8G>A
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|
|
NM_018006.5(TRMU):c.874-10C>T
|
rs1943618504
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NM_018006.5(TRMU):c.874-11C>G
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|
|
NM_018006.5(TRMU):c.874-12T>G
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|
|
NM_018006.5(TRMU):c.874-13T>A
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NM_018006.5(TRMU):c.874-15C>T
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NM_018006.5(TRMU):c.874-16A>G
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NM_018006.5(TRMU):c.874-16A>T
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NM_018006.5(TRMU):c.874-2A>G
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NM_018006.5(TRMU):c.874-6C>T
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|
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
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NM_018006.5(TRMU):c.880dup (p.Arg294fs)
|
|
|
NM_018006.5(TRMU):c.882G>A (p.Arg294=)
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|
|
NM_018006.5(TRMU):c.882dup (p.Thr295fs)
|
|
|
NM_018006.5(TRMU):c.885A>G (p.Thr295=)
|
rs2147113254
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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
|
|