ClinVar Miner

List of variants in gene MTM1 studied for centronuclear myopathy

Included ClinVar conditions (16):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 674
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000252.3(MTM1):c.1260+3G>A rs222410 0.58566
NM_000252.3(MTM1):c.232-28C>T rs73620649 0.03576
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.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.339T>C (p.Cys113=) rs147644722 0.00111
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.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)
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.(?_149767036)_(149787632_?)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.150649717_150649723del
NC_000023.11:g.150657936T>A rs727504019
NC_000023.11:g.150657994_150657995delinsT rs797045711
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.1054-15A>G
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.1107T>A (p.Ser369Arg) rs2148508637
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.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.1232G>A (p.Trp411Ter) rs587783763
NM_000252.3(MTM1):c.1233G>T (p.Trp411Cys) rs587783764
NM_000252.3(MTM1):c.1234A>C (p.Ile412Leu)
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.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.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.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.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.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.136+11G>C
NM_000252.3(MTM1):c.136+14G>A
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.137-11del
NM_000252.3(MTM1):c.137-11dup rs797045716
NM_000252.3(MTM1):c.137-18del
NM_000252.3(MTM1):c.137-7T>G rs587783784
NM_000252.3(MTM1):c.1371del (p.Glu457fs)
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.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.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.1433T>C (p.Phe478Ser) rs587783794
NM_000252.3(MTM1):c.1436_1437insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGTCTTCTGCGTCGCTCACGCTGGGAGCTGTAGACCGGAGCTGTTCCTATTCGGCCATCTTGGCTCCTCCCCCTGGTACTTTCTT (p.Phe478_Leu479insPhePhePhePhePhePhePheXaaXaaXaaXaaSerSerAlaSerLeuThrLeuGlyAlaValAspArgSerCysSerTyrSerAlaIleLeuAlaProProProGlyThrPhe)
NM_000252.3(MTM1):c.1438T>C (p.Phe480Leu)
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.144A>G (p.Glu48=)
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.1464A>C (p.Arg488Ser)
NM_000252.3(MTM1):c.1465_1468del (p.Gln489fs) rs587783797
NM_000252.3(MTM1):c.1467+17T>A
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.1470G>T (p.Lys490Asn)
NM_000252.3(MTM1):c.1475C>T (p.Thr492Ile)
NM_000252.3(MTM1):c.147T>A (p.Val49=) rs2148434016
NM_000252.3(MTM1):c.1482G>A (p.Arg494=)
NM_000252.3(MTM1):c.1485T>A (p.Thr495=) rs2148515501
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.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.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.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.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.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.1693G>A (p.Asp565Asn)
NM_000252.3(MTM1):c.1696G>T (p.Glu566Ter)
NM_000252.3(MTM1):c.1697A>G (p.Glu566Gly)
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.1733A>C (p.Asn578Thr)
NM_000252.3(MTM1):c.1743G>A (p.Lys581=)
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.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.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.215del (p.Tyr71_Leu72insTer)
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+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.232-1G>A rs587783812
NM_000252.3(MTM1):c.232-1G>C
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+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.343-1G>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.364G>T (p.Ala122Ser)
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.403G>T (p.Glu135Ter)
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.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+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.469G>C (p.Glu157Gln)
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.492G>A (p.Trp164Ter)
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.504T>C (p.Asn168=)
NM_000252.3(MTM1):c.510G>A (p.Val170=)
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.528G>A (p.Gln176=)
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.562A>C (p.Ile188Leu)
NM_000252.3(MTM1):c.566A>G (p.Asn189Ser) rs132630302
NM_000252.3(MTM1):c.566_569dup (p.Lys190_Cys191insTer)
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.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.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.606G>T (p.Leu202Phe)
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+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.643A>C (p.Arg215=)
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.665G>A (p.Arg222Gln)
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.679-19C>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.687A>G (p.Ser229=)
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.71G>C (p.Arg24Pro)
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.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.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.919_923del (p.Phe307fs)
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.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.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=)

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