ClinVar Miner

List of variants in gene MTM1

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 731
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000252.3(MTM1):c.1260+3G>A rs222410 0.58566
NM_000252.3(MTM1):c.1054-201A>T rs222408 0.29752
NM_000252.3(MTM1):c.1054-193A>G rs222409 0.27851
NM_000252.3(MTM1):c.-10-328A>G rs2138413 0.26655
NM_000252.3(MTM1):c.867+180A>C rs222368 0.15351
NM_000252.3(MTM1):c.528+70G>A rs16995740 0.12756
NM_000252.3(MTM1):c.232-147G>C rs10521888 0.12583
NM_000252.3(MTM1):c.342+106C>G rs222394 0.03885
NM_000252.3(MTM1):c.232-28C>T rs73620649 0.03576
NM_000252.3(MTM1):c.1353+229A>G rs138203673 0.02531
NM_000252.3(MTM1):c.1260+240A>G rs147799230 0.01980
NM_000252.3(MTM1):c.1260+134C>T rs144266984 0.01748
NM_000252.3(MTM1):c.343-100A>G rs222389 0.01524
NM_000252.3(MTM1):c.1353+262C>T rs111951773 0.01403
NM_000252.3(MTM1):c.1053+105A>C rs140153689 0.01044
NM_000252.3(MTM1):c.528+1035G>A rs140625961 0.01025
NM_000252.3(MTM1):c.-10-248C>T rs111468862 0.00734
NM_000252.3(MTM1):c.343-158A>G rs191242850 0.00706
NM_000252.3(MTM1):c.1260+17A>G rs185258809 0.00687
NM_000252.3(MTM1):c.136+17A>G rs142891103 0.00648
NM_000252.3(MTM1):c.63+252C>T rs189339138 0.00636
NM_000252.3(MTM1):c.*182C>T rs222419 0.00587
NM_000252.3(MTM1):c.445-33C>T rs143521383 0.00507
NM_000252.3(MTM1):c.64-198A>G rs188412335 0.00482
NM_000252.3(MTM1):c.529-324G>A rs782664286 0.00390
NM_000252.3(MTM1):c.529-76G>A rs782310438 0.00367
NM_000252.3(MTM1):c.232-54A>T rs143312552 0.00356
NM_000252.3(MTM1):c.64-14T>C rs184956219 0.00340
NM_000252.3(MTM1):c.136+9C>T rs191553188 0.00337
NM_000252.3(MTM1):c.64-50A>T rs201279564 0.00136
NM_000252.3(MTM1):c.339T>C (p.Cys113=) rs147644722 0.00111
NM_000252.3(MTM1):c.1053+23T>C rs180775341 0.00057
NM_000252.3(MTM1):c.615G>A (p.Pro205=) rs144517020 0.00053
NM_000252.3(MTM1):c.867+13A>C rs368954714 0.00051
NM_000252.3(MTM1):c.582C>T (p.Leu194=) rs367912069 0.00029
NM_000252.3(MTM1):c.1052A>G (p.Lys351Arg) rs150430628 0.00022
NM_000252.3(MTM1):c.867+17A>G rs371239013 0.00017
NM_000252.3(MTM1):c.423G>A (p.Ala141=) rs377311110 0.00014
NM_000252.3(MTM1):c.1701C>T (p.Tyr567=) rs587783806 0.00011
NM_000252.3(MTM1):c.176T>C (p.Ile59Thr) rs782217375 0.00011
NM_000252.3(MTM1):c.231+30C>A rs368915645 0.00010
NM_000252.3(MTM1):c.86G>A (p.Arg29Gln) rs782072494 0.00010
NM_000252.3(MTM1):c.422C>T (p.Ala141Val) rs140642341 0.00007
NM_000252.3(MTM1):c.1455T>C (p.Ala485=) rs141358705 0.00006
NM_000252.3(MTM1):c.1729G>A (p.Ala577Thr) rs148195763 0.00006
NM_000252.3(MTM1):c.481G>A (p.Val161Met) rs782744530 0.00006
NM_000252.3(MTM1):c.700G>C (p.Glu234Gln) rs372053838 0.00006
NM_000252.3(MTM1):c.1376A>G (p.Asn459Ser) rs587783785 0.00005
NM_000252.3(MTM1):c.1793A>G (p.His598Arg) rs201373390 0.00005
NM_000252.3(MTM1):c.232-7A>G rs373045797 0.00005
NM_000252.3(MTM1):c.285A>G (p.Lys95=) rs1292849674 0.00005
NM_000252.3(MTM1):c.38C>T (p.Ser13Phe) rs144473998 0.00005
NM_000252.3(MTM1):c.546T>C (p.His182=) rs782217349 0.00005
NM_000252.3(MTM1):c.620G>A (p.Arg207His) rs187357952 0.00005
NM_000252.3(MTM1):c.755A>G (p.Lys252Arg) rs782740989 0.00005
NM_000252.3(MTM1):c.1196G>A (p.Ser399Asn) rs782295697 0.00004
NM_000252.3(MTM1):c.1383A>G (p.Gln461=) rs782410861 0.00004
NM_000252.3(MTM1):c.1695C>T (p.Asp565=) rs140744506 0.00004
NM_000252.3(MTM1):c.230C>T (p.Thr77Met) rs782640338 0.00004
NM_000252.3(MTM1):c.66G>A (p.Thr22=) rs781793926 0.00004
NM_000252.3(MTM1):c.710C>T (p.Thr237Met) rs375590163 0.00004
NM_000252.3(MTM1):c.868-9G>T rs782148583 0.00004
NM_000252.3(MTM1):c.1209C>T (p.Phe403=) rs782407568 0.00003
NM_000252.3(MTM1):c.1629C>T (p.Pro543=) rs781856935 0.00003
NM_000252.3(MTM1):c.1779G>A (p.Ser593=) rs782375296 0.00003
NM_000252.3(MTM1):c.445-17T>G rs73250563 0.00003
NM_000252.3(MTM1):c.480C>T (p.Asn160=) rs782480422 0.00003
NM_000252.3(MTM1):c.508G>C (p.Val170Leu) rs782274835 0.00003
NM_000252.3(MTM1):c.55A>C (p.Ile19Leu) rs1408923946 0.00003
NM_000252.3(MTM1):c.64-9T>C rs189752798 0.00003
NM_000252.3(MTM1):c.999A>G (p.Glu333=) rs782302438 0.00003
NM_000252.3(MTM1):c.1077A>G (p.Gln359=) rs1299457466 0.00002
NM_000252.3(MTM1):c.1188C>T (p.Phe396=) rs370366538 0.00002
NM_000252.3(MTM1):c.1560A>G (p.Arg520=) rs138946055 0.00002
NM_000252.3(MTM1):c.1645-8C>T rs782348896 0.00002
NM_000252.3(MTM1):c.1692C>T (p.Arg564=) rs1557415136 0.00002
NM_000252.3(MTM1):c.1702A>G (p.Ile568Val) rs587783807 0.00002
NM_000252.3(MTM1):c.1724A>G (p.Gln575Arg) rs1347335331 0.00002
NM_000252.3(MTM1):c.1758A>G (p.Pro586=) rs1454805516 0.00002
NM_000252.3(MTM1):c.175A>G (p.Ile59Val) rs782451760 0.00002
NM_000252.3(MTM1):c.206G>A (p.Arg69His) rs782277980 0.00002
NM_000252.3(MTM1):c.233A>T (p.Asp78Val) rs782215492 0.00002
NM_000252.3(MTM1):c.278T>C (p.Ile93Thr) rs199821243 0.00002
NM_000252.3(MTM1):c.297G>A (p.Ala99=) rs781784303 0.00002
NM_000252.3(MTM1):c.51G>A (p.Glu17=) rs148455726 0.00002
NM_000252.3(MTM1):c.528+7T>C rs782460237 0.00002
NM_000252.3(MTM1):c.741C>T (p.Val247=) rs374360983 0.00002
NM_000252.3(MTM1):c.813T>C (p.Ile271=) rs1224173755 0.00002
NM_000252.3(MTM1):c.1008T>C (p.His336=) rs1557414128 0.00001
NM_000252.3(MTM1):c.1080A>G (p.Val360=) rs782202285 0.00001
NM_000252.3(MTM1):c.109C>T (p.Arg37Ter) rs587783753 0.00001
NM_000252.3(MTM1):c.111A>G (p.Arg37=) rs2038979283 0.00001
NM_000252.3(MTM1):c.1131C>T (p.Asp377=) rs1557414507 0.00001
NM_000252.3(MTM1):c.1194G>A (p.Arg398=) rs1557414516 0.00001
NM_000252.3(MTM1):c.1213A>G (p.Ile405Val) rs373788741 0.00001
NM_000252.3(MTM1):c.1260+7A>T rs782771099 0.00001
NM_000252.3(MTM1):c.1261-6A>G rs781856399 0.00001
NM_000252.3(MTM1):c.1261C>T (p.Arg421Ter) rs587783771 0.00001
NM_000252.3(MTM1):c.126A>G (p.Thr42=) rs782801257 0.00001
NM_000252.3(MTM1):c.1290C>T (p.Thr430=) rs374725419 0.00001
NM_000252.3(MTM1):c.1300C>T (p.Arg434Cys) rs782664128 0.00001
NM_000252.3(MTM1):c.1353+7A>C rs782203723 0.00001
NM_000252.3(MTM1):c.1354-6G>A rs1235590737 0.00001
NM_000252.3(MTM1):c.136+10T>G rs782382879 0.00001
NM_000252.3(MTM1):c.136+7A>T rs782025629 0.00001
NM_000252.3(MTM1):c.1454C>T (p.Ala485Val) rs782137551 0.00001
NM_000252.3(MTM1):c.1457G>A (p.Arg486Gln) rs782032230 0.00001
NM_000252.3(MTM1):c.1468-10C>T rs782174623 0.00001
NM_000252.3(MTM1):c.1561G>A (p.Val521Ile) rs782705509 0.00001
NM_000252.3(MTM1):c.1678C>T (p.Leu560Phe) rs1557415135 0.00001
NM_000252.3(MTM1):c.1709G>A (p.Arg570Gln) rs782469735 0.00001
NM_000252.3(MTM1):c.1719A>G (p.Glu573=) rs1557415144 0.00001
NM_000252.3(MTM1):c.1740C>G (p.Ala580=) rs782365703 0.00001
NM_000252.3(MTM1):c.231+10A>G rs1231679121 0.00001
NM_000252.3(MTM1):c.258T>C (p.Pro86=) rs782702345 0.00001
NM_000252.3(MTM1):c.272C>T (p.Ser91Leu) rs782148152 0.00001
NM_000252.3(MTM1):c.420C>T (p.Tyr140=) rs587783825 0.00001
NM_000252.3(MTM1):c.426T>C (p.Phe142=) rs1443261976 0.00001
NM_000252.3(MTM1):c.444+16C>G rs1057523163 0.00001
NM_000252.3(MTM1):c.447A>G (p.Pro149=) rs782149231 0.00001
NM_000252.3(MTM1):c.539A>G (p.Asn180Ser) rs781995404 0.00001
NM_000252.3(MTM1):c.570G>A (p.Lys190=) rs782411810 0.00001
NM_000252.3(MTM1):c.603T>C (p.Leu201=) rs1557413854 0.00001
NM_000252.3(MTM1):c.646G>A (p.Val216Ile) rs782156492 0.00001
NM_000252.3(MTM1):c.65C>T (p.Thr22Met) rs781886721 0.00001
NM_000252.3(MTM1):c.681G>C (p.Val227=) rs1557413955 0.00001
NM_000252.3(MTM1):c.783C>T (p.Leu261=) rs187394611 0.00001
NM_000252.3(MTM1):c.788T>G (p.Val263Gly) rs782573475 0.00001
NM_000252.3(MTM1):c.867+4A>T rs1322584849 0.00001
NM_000252.3(MTM1):c.867+8G>A rs782431909 0.00001
NM_000252.3(MTM1):c.868-9del rs1372652199 0.00001
NM_000252.3(MTM1):c.885T>C (p.Tyr295=) rs1017890631 0.00001
NM_000252.3(MTM1):c.909C>T (p.Asn303=) rs199984259 0.00001
NM_000252.3(MTM1):c.911C>T (p.Ala304Val) rs781871854 0.00001
NM_000252.3(MTM1):c.931A>G (p.Ile311Val) rs782444216 0.00001
NM_000252.3(MTM1):c.945T>C (p.His315=) rs376178048 0.00001
NM_000252.3(MTM1):c.953G>A (p.Arg318Gln) rs782462553 0.00001
NM_000252.3(MTM1):c.954G>C (p.Arg318=) rs1557414126 0.00001
GRCh37/hg19 Xq28(chrX:149761077-149818374)
GRCh37/hg19 Xq28(chrX:149818189-149840068)x3
GRCh38/hg38 Xq28(chrX:150592508-150619237)x0
NC_000023.10:g.(?_149761067)_(149761149_?)del
NC_000023.10:g.(?_149761067)_(149840078_?)del
NC_000023.10:g.(?_149761077)_(149787632_?)dup
NC_000023.10:g.(?_149761093)_(149767213_?)del
NC_000023.10:g.(?_149783042)_(149787632_?)del
NC_000023.10:g.(?_149783052)_(149840078_?)dup
NC_000023.10:g.(?_149807406)_(149814354_?)dup
NC_000023.10:g.(?_149818176)_(149818384_?)del
NC_000023.10:g.(?_149826274)_(149826520_?)del
NC_000023.10:g.(?_149826274)_(149840088_?)del
NC_000023.10:g.(?_149826294)_(149826500_?)del
NC_000023.10:g.(?_149831886)_(149840088_?)del
NC_000023.10:g.(?_149831896)_(149832092_?)del
NC_000023.10:g.(?_149839891)_(149840078_?)del
NC_000023.11:g.150583230_150648535del
NC_000023.11:g.150649717_150649723del
NM_000252.2(MTM1):c.1169T>A (p.Met390Lys) rs727504019
NM_000252.2(MTM1):c.1227_1228delinsT (p.Lys409fs) rs797045711
NM_000252.3(MTM1):c.-10-152= rs182630
NM_000252.3(MTM1):c.1008_1009dup (p.Trp337fs) rs2148497926
NM_000252.3(MTM1):c.100del (p.Ala34fs)
NM_000252.3(MTM1):c.1011G>A (p.Trp337Ter)
NM_000252.3(MTM1):c.1015dup (p.Ser339fs) rs797045709
NM_000252.3(MTM1):c.1022T>A (p.Leu341Ter)
NM_000252.3(MTM1):c.102T>C (p.Ala34=)
NM_000252.3(MTM1):c.1036T>C (p.Trp346Arg) rs587783750
NM_000252.3(MTM1):c.1037G>A (p.Trp346Ter) rs781939560
NM_000252.3(MTM1):c.1040T>G (p.Leu347Ter) rs398123264
NM_000252.3(MTM1):c.1045_1046insCCCCT (p.His349fs)
NM_000252.3(MTM1):c.1047T>C (p.His349=)
NM_000252.3(MTM1):c.1049T>C (p.Ile350Thr)
NM_000252.3(MTM1):c.1053+14G>T
NM_000252.3(MTM1):c.1053+1G>A rs587783751
NM_000252.3(MTM1):c.1053+1G>C rs587783751
NM_000252.3(MTM1):c.1053+20dup
NM_000252.3(MTM1):c.1053+5G>A rs1557414132
NM_000252.3(MTM1):c.1053+5G>T rs1557414132
NM_000252.3(MTM1):c.1053+8T>C
NM_000252.3(MTM1):c.1054-18C>G
NM_000252.3(MTM1):c.1054-4T>C
NM_000252.3(MTM1):c.1054-5G>C rs398123265
NM_000252.3(MTM1):c.1054-6dup
NM_000252.3(MTM1):c.1054-9_1054-6del rs782691958
NM_000252.3(MTM1):c.1056C>T (p.Leu352=) rs1216921434
NM_000252.3(MTM1):c.1057_1058insACGA (p.Val353fs)
NM_000252.3(MTM1):c.1062G>A (p.Leu354=) rs1603204575
NM_000252.3(MTM1):c.1065A>G (p.Thr355=) rs1603204585
NM_000252.3(MTM1):c.1084G>C (p.Asp362His) rs2148508579
NM_000252.3(MTM1):c.1086C>T (p.Asp362=) rs2148508590
NM_000252.3(MTM1):c.1088_1089del (p.Lys363fs) rs587783752
NM_000252.3(MTM1):c.1089dup (p.Val364fs) rs587783752
NM_000252.3(MTM1):c.1094C>T (p.Ser365Phe)
NM_000252.3(MTM1):c.1107T>A (p.Ser369Arg) rs2148508637
NM_000252.3(MTM1):c.1109C>G (p.Ser370Ter) rs1557414505
NM_000252.3(MTM1):c.110G>A (p.Arg37Gln)
NM_000252.3(MTM1):c.1116del (p.Val373fs)
NM_000252.3(MTM1):c.1119G>A (p.Val373=) rs941979306
NM_000252.3(MTM1):c.1120C>G (p.His374Asp) rs587783754
NM_000252.3(MTM1):c.1122T>C (p.His374=) rs2040150089
NM_000252.3(MTM1):c.1132G>A (p.Gly378Arg) rs587783755
NM_000252.3(MTM1):c.1132G>T (p.Gly378Ter) rs587783755
NM_000252.3(MTM1):c.1133G>T (p.Gly378Val) rs2040150416
NM_000252.3(MTM1):c.1136G>A (p.Trp379Ter) rs587783756
NM_000252.3(MTM1):c.1137G>A (p.Trp379Ter) rs587783757
NM_000252.3(MTM1):c.1139A>T (p.Asp380Val) rs587783758
NM_000252.3(MTM1):c.1149T>C (p.Ala383=)
NM_000252.3(MTM1):c.114del (p.Pro39fs)
NM_000252.3(MTM1):c.1153C>T (p.Leu385=)
NM_000252.3(MTM1):c.1153_1156delinsTGT (p.Leu385fs)
NM_000252.3(MTM1):c.1158A>G (p.Thr386=)
NM_000252.3(MTM1):c.1160C>A (p.Ser387Tyr) rs587783759
NM_000252.3(MTM1):c.116del (p.Pro39fs) rs2038979352
NM_000252.3(MTM1):c.1174A>T (p.Met392Leu)
NM_000252.3(MTM1):c.1178dup (p.Leu393fs) rs1557414513
NM_000252.3(MTM1):c.1179G>A (p.Leu393=)
NM_000252.3(MTM1):c.1180G>C (p.Asp394His) rs587783760
NM_000252.3(MTM1):c.1184G>A (p.Ser395Asn) rs2040151430
NM_000252.3(MTM1):c.1190A>G (p.Tyr397Cys) rs132630303
NM_000252.3(MTM1):c.1191T>G (p.Tyr397Ter) rs587783761
NM_000252.3(MTM1):c.1195_1199delinsTGC (p.Ser399fs)
NM_000252.3(MTM1):c.1201G>T (p.Glu401Ter) rs2040152185
NM_000252.3(MTM1):c.1204G>A (p.Gly402Arg) rs1569565525
NM_000252.3(MTM1):c.1205G>C (p.Gly402Ala) rs587783762
NM_000252.3(MTM1):c.1205G>T (p.Gly402Val)
NM_000252.3(MTM1):c.1210G>A (p.Glu404Lys) rs781933660
NM_000252.3(MTM1):c.1212A>C (p.Glu404Asp) rs2040152678
NM_000252.3(MTM1):c.1225A>G (p.Lys409Glu) rs1569565526
NM_000252.3(MTM1):c.1228G>C (p.Glu410Gln) rs17852824
NM_000252.3(MTM1):c.1228G>T (p.Glu410Ter) rs17852824
NM_000252.3(MTM1):c.122A>G (p.Glu41Gly) rs398123266
NM_000252.3(MTM1):c.1232G>A (p.Trp411Ter) rs587783763
NM_000252.3(MTM1):c.1233G>T (p.Trp411Cys) rs587783764
NM_000252.3(MTM1):c.1234A>G (p.Ile412Val) rs587783765
NM_000252.3(MTM1):c.1244G>A (p.Gly415Glu) rs587783766
NM_000252.3(MTM1):c.1245A>G (p.Gly415=) rs2148508923
NM_000252.3(MTM1):c.1254T>C (p.Phe418=) rs587783767
NM_000252.3(MTM1):c.1260+10C>T
NM_000252.3(MTM1):c.1260+15C>G
NM_000252.3(MTM1):c.1260+19T>C
NM_000252.3(MTM1):c.1260+1G>A rs587783768
NM_000252.3(MTM1):c.1260+5G>A rs587783769
NM_000252.3(MTM1):c.1261-10A>C
NM_000252.3(MTM1):c.1261-10A>G rs397518445
NM_000252.3(MTM1):c.1261-15C>T
NM_000252.3(MTM1):c.1261-18C>G
NM_000252.3(MTM1):c.1261-1G>C rs587783770
NM_000252.3(MTM1):c.1261-20A>G
NM_000252.3(MTM1):c.1261-21_1261-16del
NM_000252.3(MTM1):c.1261-2A>C rs2148510791
NM_000252.3(MTM1):c.1262G>A (p.Arg421Gln) rs587783772
NM_000252.3(MTM1):c.1262G>T (p.Arg421Leu) rs587783772
NM_000252.3(MTM1):c.1269T>A (p.Gly423=)
NM_000252.3(MTM1):c.1283_1286del (p.Asn428fs) rs587783773
NM_000252.3(MTM1):c.1283del (p.Asn428fs) rs797045712
NM_000252.3(MTM1):c.1291G>A (p.Asp431Asn) rs886044782
NM_000252.3(MTM1):c.1297G>A (p.Asp433Asn) rs886044783
NM_000252.3(MTM1):c.129A>T (p.Leu43=)
NM_000252.3(MTM1):c.1302T>C (p.Arg434=) rs2148510860
NM_000252.3(MTM1):c.1306_1308del (p.Pro436del) rs797045713
NM_000252.3(MTM1):c.1306_1310dup (p.Phe438fs) rs398123267
NM_000252.3(MTM1):c.1307C>T (p.Pro436Leu) rs587783774
NM_000252.3(MTM1):c.1307del (p.Pro436fs) rs587783775
NM_000252.3(MTM1):c.130dup (p.Ile44fs) rs797045714
NM_000252.3(MTM1):c.1319del (p.Gln440fs)
NM_000252.3(MTM1):c.1323T>C (p.Phe441=)
NM_000252.3(MTM1):c.1325T>A (p.Ile442Asn) rs587783776
NM_000252.3(MTM1):c.1328A>C (p.Asp443Ala) rs587783777
NM_000252.3(MTM1):c.1329T>C (p.Asp443=)
NM_000252.3(MTM1):c.1334T>C (p.Val445Ala)
NM_000252.3(MTM1):c.1337G>A (p.Trp446Ter) rs587783778
NM_000252.3(MTM1):c.1340A>G (p.Gln447Arg)
NM_000252.3(MTM1):c.1349_1353+4del rs797045715
NM_000252.3(MTM1):c.1353+14G>A
NM_000252.3(MTM1):c.1353+1G>A rs587783779
NM_000252.3(MTM1):c.1353+2T>C rs587783780
NM_000252.3(MTM1):c.1353+4A>C
NM_000252.3(MTM1):c.1353+9T>A
NM_000252.3(MTM1):c.1353G>A (p.Gln451=) rs587783781
NM_000252.3(MTM1):c.1354-19_1354-16del
NM_000252.3(MTM1):c.1354-1G>A rs587783782
NM_000252.3(MTM1):c.1354-2A>T rs781835307
NM_000252.3(MTM1):c.1354-7del rs782326353
NM_000252.3(MTM1):c.1357_1358del (p.Pro453fs) rs398123268
NM_000252.3(MTM1):c.136+11G>C
NM_000252.3(MTM1):c.136+14G>A
NM_000252.3(MTM1):c.136+172= rs222380
NM_000252.3(MTM1):c.136+172T>C
NM_000252.3(MTM1):c.136+1G>T rs1603124201
NM_000252.3(MTM1):c.136+5G>A
NM_000252.3(MTM1):c.1367T>C (p.Phe456Ser) rs587783783
NM_000252.3(MTM1):c.1369G>A (p.Glu457Lys) rs398123269
NM_000252.3(MTM1):c.137-11T>A rs1557412659
NM_000252.3(MTM1):c.137-11del
NM_000252.3(MTM1):c.137-11dup rs797045716
NM_000252.3(MTM1):c.137-18del
NM_000252.3(MTM1):c.137-3T>G rs878853069
NM_000252.3(MTM1):c.137-7T>G rs587783784
NM_000252.3(MTM1):c.1372T>G (p.Phe458Val)
NM_000252.3(MTM1):c.1376A>T (p.Asn459Ile) rs587783785
NM_000252.3(MTM1):c.1378G>T (p.Glu460Ter) rs587783786
NM_000252.3(MTM1):c.1381C>T (p.Gln461Ter) rs782234944
NM_000252.3(MTM1):c.1388T>C (p.Leu463Ser) rs587783787
NM_000252.3(MTM1):c.1388T>G (p.Leu463Trp) rs587783787
NM_000252.3(MTM1):c.1389G>T (p.Leu463Phe)
NM_000252.3(MTM1):c.1392T>C (p.Ile464=) rs2148511855
NM_000252.3(MTM1):c.139_141del (p.Lys47del) rs587783788
NM_000252.3(MTM1):c.1400del (p.Leu467fs) rs2148511870
NM_000252.3(MTM1):c.1405C>G (p.His469Asp)
NM_000252.3(MTM1):c.1406A>C (p.His469Pro) rs587783789
NM_000252.3(MTM1):c.1406A>G (p.His469Arg) rs587783789
NM_000252.3(MTM1):c.1415_1416del (p.Ser472fs) rs797044503
NM_000252.3(MTM1):c.1419C>T (p.Cys473=)
NM_000252.3(MTM1):c.141A>G (p.Lys47=) rs587783790
NM_000252.3(MTM1):c.141_144del rs587783791
NM_000252.3(MTM1):c.1420C>T (p.Arg474Ter) rs587783792
NM_000252.3(MTM1):c.1423T>C (p.Phe475Leu)
NM_000252.3(MTM1):c.1427G>T (p.Gly476Val) rs587783793
NM_000252.3(MTM1):c.1429A>G (p.Thr477Ala) rs2040200948
NM_000252.3(MTM1):c.142_143del (p.Glu48fs) rs398123270
NM_000252.3(MTM1):c.1433T>C (p.Phe478Ser) rs587783794
NM_000252.3(MTM1):c.1436_1437insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGTCTTCTGCGTCGCTCACGCTGGGAGCTGTAGACCGGAGCTGTTCCTATTCGGCCATCTTGGCTCCTCCCCCTGGTACTTTCTT (p.Phe478_Leu479insPhePhePhePhePhePhePheXaaXaaXaaXaaSerSerAlaSerLeuThrLeuGlyAlaValAspArgSerCysSerTyrSerAlaIleLeuAlaProProProGlyThrPhe)
NM_000252.3(MTM1):c.1447G>T (p.Glu483Ter) rs2148511944
NM_000252.3(MTM1):c.1449A>G (p.Glu483=) rs2148511948
NM_000252.3(MTM1):c.1456C>T (p.Arg486Ter) rs587783795
NM_000252.3(MTM1):c.1459G>T (p.Glu487Ter) rs2148511970
NM_000252.3(MTM1):c.145G>A (p.Val49Ile) rs587783796
NM_000252.3(MTM1):c.145G>T (p.Val49Phe) rs587783796
NM_000252.3(MTM1):c.1465_1468del (p.Gln489fs) rs587783797
NM_000252.3(MTM1):c.1467+1G>A rs587783798
NM_000252.3(MTM1):c.1467+1G>T rs587783798
NM_000252.3(MTM1):c.1467+24del
NM_000252.3(MTM1):c.1467+24dup
NM_000252.3(MTM1):c.1467+2T>A rs587783799
NM_000252.3(MTM1):c.1468-11TC[2] rs2148515446
NM_000252.3(MTM1):c.1468-12G>A
NM_000252.3(MTM1):c.1468-12G>C
NM_000252.3(MTM1):c.1468-12G>T
NM_000252.3(MTM1):c.1468-12_1468-11del
NM_000252.3(MTM1):c.1468-18_1468-13del
NM_000252.3(MTM1):c.1468-21TC[2]
NM_000252.3(MTM1):c.1468-2A>G
NM_000252.3(MTM1):c.1468-5T>C rs2148515462
NM_000252.3(MTM1):c.1468-8C>T rs1276451236
NM_000252.3(MTM1):c.1469A>G (p.Lys490Arg) rs781948606
NM_000252.3(MTM1):c.1475C>T (p.Thr492Ile)
NM_000252.3(MTM1):c.147T>A (p.Val49=) rs2148434016
NM_000252.3(MTM1):c.1484C>T (p.Thr495Ile) rs782128516
NM_000252.3(MTM1):c.1485T>A (p.Thr495=) rs2148515501
NM_000252.3(MTM1):c.1490C>A (p.Ser497Tyr) rs587783800
NM_000252.3(MTM1):c.1495T>C (p.Trp499Arg) rs587783801
NM_000252.3(MTM1):c.1501C>T (p.Leu501=) rs2148515532
NM_000252.3(MTM1):c.1503G>C (p.Leu501=) rs2148515546
NM_000252.3(MTM1):c.1505T>A (p.Ile502Lys) rs1557414802
NM_000252.3(MTM1):c.1509C>T (p.Asn503=) rs1603208456
NM_000252.3(MTM1):c.1509_1510del (p.Asn503fs)
NM_000252.3(MTM1):c.1509del (p.Asn503fs) rs587783802
NM_000252.3(MTM1):c.1518A>G (p.Lys506=) rs2040257647
NM_000252.3(MTM1):c.1521A>G (p.Glu507=) rs2148515589
NM_000252.3(MTM1):c.1525T>C (p.Phe509Leu) rs2040257723
NM_000252.3(MTM1):c.1529A>G (p.Lys510Arg) rs2148515610
NM_000252.3(MTM1):c.1533C>A (p.Asn511Lys) rs1569565536
NM_000252.3(MTM1):c.1537_1564delinsAACTGGA (p.Phe513_Leu522delinsAsnTrpIle) rs398123271
NM_000252.3(MTM1):c.153C>A (p.Tyr51Ter) rs2148434034
NM_000252.3(MTM1):c.153C>T (p.Tyr51=) rs2148434034
NM_000252.3(MTM1):c.153_156del (p.Ile52fs) rs587783803
NM_000252.3(MTM1):c.1542T>C (p.Tyr514=)
NM_000252.3(MTM1):c.1546A>G (p.Lys516Glu) rs868972342
NM_000252.3(MTM1):c.1546A>T (p.Lys516Ter) rs868972342
NM_000252.3(MTM1):c.154A>G (p.Ile52Val)
NM_000252.3(MTM1):c.154del (p.Ile52fs) rs587783804
NM_000252.3(MTM1):c.1551A>G (p.Glu517=) rs2040258177
NM_000252.3(MTM1):c.1558C>A (p.Arg520=) rs587783805
NM_000252.3(MTM1):c.1558C>T (p.Arg520Ter) rs587783805
NM_000252.3(MTM1):c.1566A>G (p.Leu522=) rs2148515668
NM_000252.3(MTM1):c.156A>G (p.Ile52Met)
NM_000252.3(MTM1):c.1573G>T (p.Val525Phe)
NM_000252.3(MTM1):c.1575T>A (p.Val525=)
NM_000252.3(MTM1):c.1578C>T (p.Ala526=) rs1603208507
NM_000252.3(MTM1):c.1580G>A (p.Ser527Asn)
NM_000252.3(MTM1):c.1586G>A (p.Arg529His)
NM_000252.3(MTM1):c.1591T>C (p.Leu531=) rs2040258987
NM_000252.3(MTM1):c.1596A>G (p.Glu532=)
NM_000252.3(MTM1):c.1599C>T (p.Leu533=) rs2148515718
NM_000252.3(MTM1):c.15A>C (p.Ser5=) rs2148425501
NM_000252.3(MTM1):c.1604T>A (p.Val535Glu) rs2148515723
NM_000252.3(MTM1):c.1608T>C (p.Asn536=)
NM_000252.3(MTM1):c.1611C>A (p.Tyr537Ter) rs886041657
NM_000252.3(MTM1):c.1627C>A (p.Pro543Thr)
NM_000252.3(MTM1):c.1627C>T (p.Pro543Ser)
NM_000252.3(MTM1):c.1632G>A (p.Arg544=)
NM_000252.3(MTM1):c.1644+18G>A
NM_000252.3(MTM1):c.1644+19T>G
NM_000252.3(MTM1):c.1644+1G>A rs398123272
NM_000252.3(MTM1):c.1644+1G>T rs398123272
NM_000252.3(MTM1):c.1644+3_1644+6del rs797044504
NM_000252.3(MTM1):c.1645-13T>C
NM_000252.3(MTM1):c.1645-14_1645-13del
NM_000252.3(MTM1):c.1645-17T>A
NM_000252.3(MTM1):c.1645-17T>G
NM_000252.3(MTM1):c.1645-19A>C
NM_000252.3(MTM1):c.1649C>T (p.Pro550Leu)
NM_000252.3(MTM1):c.1650G>A (p.Pro550=) rs2040394486
NM_000252.3(MTM1):c.1662G>A (p.Glu554=) rs1603214698
NM_000252.3(MTM1):c.1665G>A (p.Gln555=)
NM_000252.3(MTM1):c.1666C>T (p.Arg556Cys) rs1603214706
NM_000252.3(MTM1):c.1667G>A (p.Arg556His) rs372735301
NM_000252.3(MTM1):c.1673T>C (p.Met558Thr)
NM_000252.3(MTM1):c.1680C>G (p.Leu560=)
NM_000252.3(MTM1):c.1683A>G (p.Leu561=) rs2148525035
NM_000252.3(MTM1):c.16A>G (p.Thr6Ala)
NM_000252.3(MTM1):c.1713T>C (p.Leu571=) rs1557415142
NM_000252.3(MTM1):c.171C>A (p.Gly57=) rs782505553
NM_000252.3(MTM1):c.1722G>A (p.Leu574=) rs781846889
NM_000252.3(MTM1):c.1724A>C (p.Gln575Pro) rs1347335331
NM_000252.3(MTM1):c.1728C>A (p.Leu576=)
NM_000252.3(MTM1):c.1728C>T (p.Leu576=) rs375031903
NM_000252.3(MTM1):c.1729G>T (p.Ala577Ser)
NM_000252.3(MTM1):c.1733A>C (p.Asn578Thr)
NM_000252.3(MTM1):c.1748C>T (p.Ser583Phe)
NM_000252.3(MTM1):c.1753C>G (p.Pro585Ala) rs1195705222
NM_000252.3(MTM1):c.1755C>A (p.Pro585=)
NM_000252.3(MTM1):c.1756C>T (p.Pro586Ser)
NM_000252.3(MTM1):c.1759A>G (p.Thr587Ala)
NM_000252.3(MTM1):c.1761T>G (p.Thr587=) rs2148525231
NM_000252.3(MTM1):c.1766C>G (p.Pro589Arg)
NM_000252.3(MTM1):c.1778C>A (p.Ser593Ter)
NM_000252.3(MTM1):c.1778C>T (p.Ser593Leu)
NM_000252.3(MTM1):c.1779G>T (p.Ser593=) rs782375296
NM_000252.3(MTM1):c.1783A>G (p.Met595Val)
NM_000252.3(MTM1):c.1791C>G (p.Pro597=)
NM_000252.3(MTM1):c.1792del (p.His598fs) rs34119065
NM_000252.3(MTM1):c.180G>A (p.Lys60=)
NM_000252.3(MTM1):c.1811del (p.Phe603_Ter604insTer)
NM_000252.3(MTM1):c.18T>A (p.Thr6=)
NM_000252.3(MTM1):c.197C>T (p.Thr66Ile) rs2148434107
NM_000252.3(MTM1):c.19del (p.Ser7fs) rs886044770
NM_000252.3(MTM1):c.205C>G (p.Arg69Gly) rs132630304
NM_000252.3(MTM1):c.205C>T (p.Arg69Cys) rs132630304
NM_000252.3(MTM1):c.208C>T (p.Leu70Phe) rs587783809
NM_000252.3(MTM1):c.214T>C (p.Leu72=)
NM_000252.3(MTM1):c.21T>G (p.Ser7=)
NM_000252.3(MTM1):c.223T>C (p.Leu75=)
NM_000252.3(MTM1):c.226G>T (p.Glu76Ter) rs1057516031
NM_000252.3(MTM1):c.231+1G>A rs587783810
NM_000252.3(MTM1):c.231+2771A>G
NM_000252.3(MTM1):c.231+2T>G rs587783811
NM_000252.3(MTM1):c.231+8G>A rs2148434174
NM_000252.3(MTM1):c.232-11G>T
NM_000252.3(MTM1):c.232-12dup
NM_000252.3(MTM1):c.232-16T>G rs2148455901
NM_000252.3(MTM1):c.232-1G>A rs587783812
NM_000252.3(MTM1):c.232-2A>C rs587783813
NM_000252.3(MTM1):c.232-3C>A rs587783814
NM_000252.3(MTM1):c.232-8C>T rs782389461
NM_000252.3(MTM1):c.232G>C (p.Asp78His)
NM_000252.3(MTM1):c.252del (p.Asp84fs) rs587783815
NM_000252.3(MTM1):c.260T>C (p.Leu87Pro) rs587783816
NM_000252.3(MTM1):c.271_272delinsAT (p.Ser91Met)
NM_000252.3(MTM1):c.273G>A (p.Ser91=) rs1447559040
NM_000252.3(MTM1):c.27T>C (p.Tyr9=)
NM_000252.3(MTM1):c.27T>G (p.Tyr9Ter)
NM_000252.3(MTM1):c.294C>T (p.Gly98=)
NM_000252.3(MTM1):c.295G>A (p.Ala99Thr)
NM_000252.3(MTM1):c.296C>T (p.Ala99Val)
NM_000252.3(MTM1):c.2T>C (p.Met1Thr)
NM_000252.3(MTM1):c.2T>G (p.Met1Arg) rs587783817
NM_000252.3(MTM1):c.301A>G (p.Ser101Gly) rs587783818
NM_000252.3(MTM1):c.302_303del (p.Ser101fs)
NM_000252.3(MTM1):c.310G>T (p.Glu104Ter) rs2148456062
NM_000252.3(MTM1):c.326T>C (p.Leu109Pro) rs2148456078
NM_000252.3(MTM1):c.32C>T (p.Ser11Leu)
NM_000252.3(MTM1):c.335C>G (p.Thr112Ser)
NM_000252.3(MTM1):c.336T>A (p.Thr112=)
NM_000252.3(MTM1):c.339T>A (p.Cys113Ter) rs147644722
NM_000252.3(MTM1):c.340A>T (p.Lys114Ter) rs587783819
NM_000252.3(MTM1):c.342+12G>A
NM_000252.3(MTM1):c.342+17T>C
NM_000252.3(MTM1):c.342+19T>C
NM_000252.3(MTM1):c.342+19_342+22del
NM_000252.3(MTM1):c.342+1G>A rs1557413092
NM_000252.3(MTM1):c.342+3A>T rs2148456143
NM_000252.3(MTM1):c.342+4A>G rs587783820
NM_000252.3(MTM1):c.342+9T>C rs2148456159
NM_000252.3(MTM1):c.342+9T>G
NM_000252.3(MTM1):c.342_342+4del rs797045717
NM_000252.3(MTM1):c.343-12C>T rs2039433672
NM_000252.3(MTM1):c.343-16T>C
NM_000252.3(MTM1):c.343-192C>T rs7884615
NM_000252.3(MTM1):c.343-1G>A rs2148461695
NM_000252.3(MTM1):c.343-2A>G rs587783821
NM_000252.3(MTM1):c.343-3dup rs2148461677
NM_000252.3(MTM1):c.345C>T (p.Asp115=) rs2148461700
NM_000252.3(MTM1):c.350_351del (p.Arg117fs)
NM_000252.3(MTM1):c.359G>A (p.Arg120Lys)
NM_000252.3(MTM1):c.363C>T (p.Phe121=)
NM_000252.3(MTM1):c.369G>A (p.Leu123=)
NM_000252.3(MTM1):c.375G>A (p.Gln125=)
NM_000252.3(MTM1):c.387C>T (p.Ser129=)
NM_000252.3(MTM1):c.388A>T (p.Arg130Ter) rs2039434309
NM_000252.3(MTM1):c.396T>C (p.Asp132=)
NM_000252.3(MTM1):c.397A>G (p.Met133Val) rs2039434563
NM_000252.3(MTM1):c.397_398del (p.Met133fs) rs587783822
NM_000252.3(MTM1):c.3G>A (p.Met1Ile) rs587783823
NM_000252.3(MTM1):c.402del (p.Phe134fs) rs587783824
NM_000252.3(MTM1):c.405G>A (p.Glu135=) rs1557413212
NM_000252.3(MTM1):c.405_408delinsTT (p.Glu135fs)
NM_000252.3(MTM1):c.408C>T (p.Ile136=)
NM_000252.3(MTM1):c.410T>C (p.Leu137Pro) rs2148461766
NM_000252.3(MTM1):c.411C>T (p.Leu137=)
NM_000252.3(MTM1):c.413C>T (p.Thr138Met)
NM_000252.3(MTM1):c.414G>A (p.Thr138=)
NM_000252.3(MTM1):c.414_421dup (p.Ala141fs)
NM_000252.3(MTM1):c.419dup (p.Tyr140Ter) rs797045718
NM_000252.3(MTM1):c.420C>G (p.Tyr140Ter) rs587783825
NM_000252.3(MTM1):c.421G>C (p.Ala141Pro) rs1557413215
NM_000252.3(MTM1):c.431del (p.Leu144fs) rs587783826
NM_000252.3(MTM1):c.432G>T (p.Leu144=) rs2148461815
NM_000252.3(MTM1):c.439A>G (p.Ser147Gly) rs964287315
NM_000252.3(MTM1):c.444+10A>G rs782479470
NM_000252.3(MTM1):c.444+12T>C rs2148461835
NM_000252.3(MTM1):c.444+15T>C
NM_000252.3(MTM1):c.444+17T>C
NM_000252.3(MTM1):c.444+19C>G
NM_000252.3(MTM1):c.444+19_444+21del
NM_000252.3(MTM1):c.444+1G>A rs886044840
NM_000252.3(MTM1):c.444+2T>A
NM_000252.3(MTM1):c.445-12dup
NM_000252.3(MTM1):c.445-20T>C
NM_000252.3(MTM1):c.446C>G (p.Pro149Arg) rs2148485707
NM_000252.3(MTM1):c.450A>G (p.Leu150=)
NM_000252.3(MTM1):c.456A>G (p.Ala152=)
NM_000252.3(MTM1):c.463A>T (p.Asn155Tyr)
NM_000252.3(MTM1):c.465T>C (p.Asn155=)
NM_000252.3(MTM1):c.465del (p.Asn155fs) rs1557413783
NM_000252.3(MTM1):c.466G>A (p.Glu156Lys)
NM_000252.3(MTM1):c.469G>A (p.Glu157Lys) rs132630307
NM_000252.3(MTM1):c.469del (p.Glu157fs) rs587783827
NM_000252.3(MTM1):c.473del (p.Lys158fs)
NM_000252.3(MTM1):c.483G>A (p.Val161=)
NM_000252.3(MTM1):c.487G>T (p.Gly163Ter) rs2039802744
NM_000252.3(MTM1):c.490_493del (p.Trp164fs) rs1603184989
NM_000252.3(MTM1):c.490_493dup (p.Thr165fs)
NM_000252.3(MTM1):c.495A>G (p.Thr165=)
NM_000252.3(MTM1):c.49G>T (p.Glu17Ter) rs886039522
NM_000252.3(MTM1):c.501C>T (p.Tyr167=) rs2039803075
NM_000252.3(MTM1):c.503del (p.Asn168fs) rs1603185038
NM_000252.3(MTM1):c.504T>C (p.Asn168=)
NM_000252.3(MTM1):c.509_528dup (p.Gly177fs)
NM_000252.3(MTM1):c.514G>T (p.Glu172Ter) rs587783828
NM_000252.3(MTM1):c.516del (p.Glu172fs) rs2039803495
NM_000252.3(MTM1):c.519C>T (p.Tyr173=) rs2148485835
NM_000252.3(MTM1):c.520A>G (p.Arg174Gly)
NM_000252.3(MTM1):c.526C>A (p.Gln176Lys) rs587783829
NM_000252.3(MTM1):c.528+10dup
NM_000252.3(MTM1):c.528+13A>G
NM_000252.3(MTM1):c.528+13A>T
NM_000252.3(MTM1):c.528+17T>A rs2148485858
NM_000252.3(MTM1):c.528+18A>G
NM_000252.3(MTM1):c.528+18_528+22dup
NM_000252.3(MTM1):c.528+1G>A
NM_000252.3(MTM1):c.528+1G>T rs587783830
NM_000252.3(MTM1):c.528+6A>G rs1057521934
NM_000252.3(MTM1):c.529-257C>G rs55824675
NM_000252.3(MTM1):c.529-2A>G rs587783831
NM_000252.3(MTM1):c.529-5C>T
NM_000252.3(MTM1):c.529-9dup
NM_000252.3(MTM1):c.530G>T (p.Gly177Val) rs1603187659
NM_000252.3(MTM1):c.533T>C (p.Leu178Ser) rs2148488364
NM_000252.3(MTM1):c.535C>A (p.Pro179Thr) rs587783832
NM_000252.3(MTM1):c.535C>T (p.Pro179Ser) rs587783832
NM_000252.3(MTM1):c.539_545del (p.Asn180fs) rs587783833
NM_000252.3(MTM1):c.543C>G (p.His181Gln) rs1603187692
NM_000252.3(MTM1):c.544C>T (p.His182Tyr) rs2148488398
NM_000252.3(MTM1):c.548G>A (p.Trp183Ter) rs2148488410
NM_000252.3(MTM1):c.549G>A (p.Trp183Ter) rs587783834
NM_000252.3(MTM1):c.549dup (p.Arg184fs) rs797045719
NM_000252.3(MTM1):c.550A>G (p.Arg184Gly) rs587783835
NM_000252.3(MTM1):c.550A>T (p.Arg184Ter)
NM_000252.3(MTM1):c.553A>T (p.Ile185Leu) rs2148488427
NM_000252.3(MTM1):c.557C>T (p.Thr186Ile) rs587783836
NM_000252.3(MTM1):c.560T>C (p.Phe187Ser)
NM_000252.3(MTM1):c.561T>C (p.Phe187=) rs587783837
NM_000252.3(MTM1):c.562A>C (p.Ile188Leu)
NM_000252.3(MTM1):c.564TAA[1] (p.Asn189del) rs878853108
NM_000252.3(MTM1):c.566A>G (p.Asn189Ser) rs132630302
NM_000252.3(MTM1):c.575A>G (p.Tyr192Cys) rs587783838
NM_000252.3(MTM1):c.576T>C (p.Tyr192=) rs2148488477
NM_000252.3(MTM1):c.581T>C (p.Leu194Pro) rs2148488487
NM_000252.3(MTM1):c.590C>T (p.Thr197Ile) rs2148488506
NM_000252.3(MTM1):c.591_594del (p.Tyr198fs) rs587783839
NM_000252.3(MTM1):c.592T>C (p.Tyr198His) rs2039845128
NM_000252.3(MTM1):c.593A>C (p.Tyr198Ser) rs1569565497
NM_000252.3(MTM1):c.593dup (p.Tyr198Ter) rs886041343
NM_000252.3(MTM1):c.595_599del (p.Pro199fs) rs398123273
NM_000252.3(MTM1):c.5C>T (p.Ala2Val) rs1603118990
NM_000252.3(MTM1):c.600T>G (p.Ala200=)
NM_000252.3(MTM1):c.605del (p.Leu202fs) rs672601325
NM_000252.3(MTM1):c.611T>G (p.Val204Gly) rs587783840
NM_000252.3(MTM1):c.614C>T (p.Pro205Leu) rs587783841
NM_000252.3(MTM1):c.619C>T (p.Arg207Cys) rs1470686963
NM_000252.3(MTM1):c.624C>T (p.Ala208=)
NM_000252.3(MTM1):c.624del (p.Ser209fs) rs2039846270
NM_000252.3(MTM1):c.629A>G (p.Asp210Gly) rs587783842
NM_000252.3(MTM1):c.629A>T (p.Asp210Val)
NM_000252.3(MTM1):c.62G>A (p.Arg21Lys) rs2148425592
NM_000252.3(MTM1):c.63+16A>G
NM_000252.3(MTM1):c.63+183dup rs1184716210
NM_000252.3(MTM1):c.63+1G>A rs587783843
NM_000252.3(MTM1):c.63+1G>T rs587783843
NM_000252.3(MTM1):c.63+21del
NM_000252.3(MTM1):c.63+3A>T rs587783844
NM_000252.3(MTM1):c.63+7del rs782222093
NM_000252.3(MTM1):c.636C>T (p.Asp212=)
NM_000252.3(MTM1):c.637C>T (p.Leu213Phe) rs587783845
NM_000252.3(MTM1):c.64-1G>A rs587783846
NM_000252.3(MTM1):c.64-2A>G rs1603123976
NM_000252.3(MTM1):c.64-7T>C rs1603123969
NM_000252.3(MTM1):c.640C>T (p.Arg214Trp)
NM_000252.3(MTM1):c.641G>A (p.Arg214Gln)
NM_000252.3(MTM1):c.664C>A (p.Arg222=) rs587783847
NM_000252.3(MTM1):c.664C>T (p.Arg222Ter) rs587783847
NM_000252.3(MTM1):c.670C>T (p.Arg224Ter) rs132630306
NM_000252.3(MTM1):c.675T>C (p.Ile225=)
NM_000252.3(MTM1):c.676C>A (p.Pro226Thr) rs587783848
NM_000252.3(MTM1):c.678+18C>T
NM_000252.3(MTM1):c.678+19G>A rs1215955664
NM_000252.3(MTM1):c.678+1G>A rs587783849
NM_000252.3(MTM1):c.678+5G>A
NM_000252.3(MTM1):c.678+6T>A rs2039847628
NM_000252.3(MTM1):c.678+7A>G rs2148488635
NM_000252.3(MTM1):c.678+9T>C
NM_000252.3(MTM1):c.678+9T>G
NM_000252.3(MTM1):c.678A>G (p.Pro226=)
NM_000252.3(MTM1):c.679-10T>G rs782314713
NM_000252.3(MTM1):c.679-150C>G rs113515087
NM_000252.3(MTM1):c.679-19C>G
NM_000252.3(MTM1):c.679-1G>A rs672601324
NM_000252.3(MTM1):c.679-22_679-17del
NM_000252.3(MTM1):c.679-2A>C
NM_000252.3(MTM1):c.679G>A (p.Val227Met) rs587783850
NM_000252.3(MTM1):c.683T>C (p.Leu228Pro) rs587783851
NM_000252.3(MTM1):c.684G>A (p.Leu228=) rs587783852
NM_000252.3(MTM1):c.684G>C (p.Leu228=) rs587783852
NM_000252.3(MTM1):c.688T>C (p.Trp230Arg) rs398123274
NM_000252.3(MTM1):c.6T>C (p.Ala2=)
NM_000252.3(MTM1):c.6T>G (p.Ala2=)
NM_000252.3(MTM1):c.70C>T (p.Arg24Ter) rs398123275
NM_000252.3(MTM1):c.711G>A (p.Thr237=) rs1162408107
NM_000252.3(MTM1):c.717T>C (p.Ile239=) rs2148493140
NM_000252.3(MTM1):c.71G>A (p.Arg24Gln)
NM_000252.3(MTM1):c.720G>A (p.Val240=) rs2148493142
NM_000252.3(MTM1):c.721C>T (p.Arg241Cys) rs132630305
NM_000252.3(MTM1):c.726C>T (p.Cys242=) rs2039919467
NM_000252.3(MTM1):c.727A>G (p.Ser243Gly) rs2148493156
NM_000252.3(MTM1):c.728G>A (p.Ser243Asn) rs2039919583
NM_000252.3(MTM1):c.730C>T (p.Gln244Ter) rs2039919698
NM_000252.3(MTM1):c.730_731del (p.Gln244fs)
NM_000252.3(MTM1):c.734C>T (p.Pro245Leu) rs1557413958
NM_000252.3(MTM1):c.742G>A (p.Gly248Ser) rs368335697
NM_000252.3(MTM1):c.743G>T (p.Gly248Val) rs587783853
NM_000252.3(MTM1):c.745A>G (p.Met249Val)
NM_000252.3(MTM1):c.74A>G (p.Asp25Gly)
NM_000252.3(MTM1):c.753G>A (p.Gly251=) rs1603192655
NM_000252.3(MTM1):c.757C>T (p.Arg253Ter) rs587783854
NM_000252.3(MTM1):c.763A>T (p.Lys255Ter)
NM_000252.3(MTM1):c.76_90del (p.Gly26_Asp30del) rs1603124011
NM_000252.3(MTM1):c.770A>G (p.Asp257Gly)
NM_000252.3(MTM1):c.774G>A (p.Glu258=) rs2148493209
NM_000252.3(MTM1):c.779A>C (p.Tyr260Ser) rs587783855
NM_000252.3(MTM1):c.782_783del (p.Leu261fs)
NM_000252.3(MTM1):c.784G>A (p.Asp262Asn)
NM_000252.3(MTM1):c.785A>C (p.Asp262Ala)
NM_000252.3(MTM1):c.787G>A (p.Val263Ile)
NM_000252.3(MTM1):c.791T>G (p.Ile264Ser) rs587783856
NM_000252.3(MTM1):c.800C>T (p.Thr267Ile)
NM_000252.3(MTM1):c.804_805del (p.Asn268fs)
NM_000252.3(MTM1):c.805A>T (p.Lys269Ter) rs2039921355
NM_000252.3(MTM1):c.808_811del (p.Gln270fs) rs797045720
NM_000252.3(MTM1):c.810A>G (p.Gln270=) rs782474609
NM_000252.3(MTM1):c.814del (p.Ser272fs) rs1603192748
NM_000252.3(MTM1):c.816T>G (p.Ser272=) rs2148493297
NM_000252.3(MTM1):c.819_820dup (p.Leu274fs) rs2148493304
NM_000252.3(MTM1):c.821T>G (p.Leu274Arg) rs2148493317
NM_000252.3(MTM1):c.825C>T (p.Thr275=) rs2148493322
NM_000252.3(MTM1):c.834T>C (p.Asp278=)
NM_000252.3(MTM1):c.838A>T (p.Arg280Ter) rs2039922261
NM_000252.3(MTM1):c.83A>G (p.Asn28Ser)
NM_000252.3(MTM1):c.843C>T (p.Pro281=)
NM_000252.3(MTM1):c.846C>T (p.Ser282=) rs375301020
NM_000252.3(MTM1):c.85C>T (p.Arg29Ter) rs587783857
NM_000252.3(MTM1):c.867+13_867+15del
NM_000252.3(MTM1):c.867+1G>A rs587783858
NM_000252.3(MTM1):c.867+2T>A
NM_000252.3(MTM1):c.867_867+1dup rs797045721
NM_000252.3(MTM1):c.868-11T>C
NM_000252.3(MTM1):c.868-14A>G
NM_000252.3(MTM1):c.868-9_868-7del rs2148497680
NM_000252.3(MTM1):c.87A>C (p.Arg29=)
NM_000252.3(MTM1):c.888_889del (p.Glu296_Ser297insTer) rs587783859
NM_000252.3(MTM1):c.894T>C (p.Asp298=)
NM_000252.3(MTM1):c.898G>A (p.Ala300Thr) rs2148497733
NM_000252.3(MTM1):c.900A>G (p.Ala300=)
NM_000252.3(MTM1):c.905A>G (p.His302Arg) rs2148497756
NM_000252.3(MTM1):c.912C>T (p.Ala304=) rs782504569
NM_000252.3(MTM1):c.912del (p.Glu305fs) rs587783860
NM_000252.3(MTM1):c.913G>A (p.Glu305Lys) rs587783861
NM_000252.3(MTM1):c.913G>C (p.Glu305Gln) rs587783861
NM_000252.3(MTM1):c.921CTT[1] (p.Phe308del) rs587783862
NM_000252.3(MTM1):c.925_926del (p.Leu309fs)
NM_000252.3(MTM1):c.930C>T (p.Asp310=) rs1603196546
NM_000252.3(MTM1):c.935A>G (p.His312Arg)
NM_000252.3(MTM1):c.935_936insACTGTCTC (p.His312fs)
NM_000252.3(MTM1):c.944A>G (p.His315Arg) rs2148497817
NM_000252.3(MTM1):c.946G>A (p.Val316Ile) rs2148497828
NM_000252.3(MTM1):c.949dup (p.Met317fs) rs797045722
NM_000252.3(MTM1):c.952C>T (p.Arg318Trp) rs2039989751
NM_000252.3(MTM1):c.958T>C (p.Ser320Pro) rs587783863
NM_000252.3(MTM1):c.961_962del (p.Leu321fs) rs587783864
NM_000252.3(MTM1):c.963A>T (p.Leu321Phe)
NM_000252.3(MTM1):c.969del (p.Lys323_Val324insTer) rs587783865
NM_000252.3(MTM1):c.969dup (p.Val324fs) rs587783865
NM_000252.3(MTM1):c.96dup (p.Glu33Ter) rs797045724
NM_000252.3(MTM1):c.971_972dup (p.Lys325Ter) rs2148497891
NM_000252.3(MTM1):c.972G>A (p.Val324=)
NM_000252.3(MTM1):c.97G>T (p.Glu33Ter) rs2038978870
NM_000252.3(MTM1):c.989C>T (p.Pro330Leu) rs2148497898
NM_000252.3(MTM1):c.990T>C (p.Pro330=)
NM_000252.3(MTM1):c.996A>G (p.Val332=)
NM_000252.3(MTM1):c.99G>A (p.Glu33=)
Single allele

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.