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.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
|
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
|
|
|
NM_000252.2(MTM1):c.1169T>A (p.Met390Lys)
|
rs727504019
|
|
NM_000252.3(MTM1):c.1008_1009dup (p.Trp337fs)
|
rs2148497926
|
|
NM_000252.3(MTM1):c.102T>C (p.Ala34=)
|
|
|
NM_000252.3(MTM1):c.1040T>G (p.Leu347Ter)
|
rs398123264
|
|
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+20dup
|
|
|
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.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.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.1122T>C (p.His374=)
|
rs2040150089
|
|
NM_000252.3(MTM1):c.1132G>A (p.Gly378Arg)
|
rs587783755
|
|
NM_000252.3(MTM1):c.1149T>C (p.Ala383=)
|
|
|
NM_000252.3(MTM1):c.1153C>T (p.Leu385=)
|
|
|
NM_000252.3(MTM1):c.1158A>G (p.Thr386=)
|
|
|
NM_000252.3(MTM1):c.116del (p.Pro39fs)
|
rs2038979352
|
|
NM_000252.3(MTM1):c.1179G>A (p.Leu393=)
|
|
|
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.1204G>A (p.Gly402Arg)
|
rs1569565525
|
|
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.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+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.1261-20A>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.129A>T (p.Leu43=)
|
|
|
NM_000252.3(MTM1):c.1302T>C (p.Arg434=)
|
rs2148510860
|
|
NM_000252.3(MTM1):c.1323T>C (p.Phe441=)
|
|
|
NM_000252.3(MTM1):c.1329T>C (p.Asp443=)
|
|
|
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+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.1354-2A>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+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.1381C>T (p.Gln461Ter)
|
rs782234944
|
|
NM_000252.3(MTM1):c.1389G>T (p.Leu463Phe)
|
|
|
NM_000252.3(MTM1):c.1392T>C (p.Ile464=)
|
rs2148511855
|
|
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.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.1429A>G (p.Thr477Ala)
|
rs2040200948
|
|
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.1467+24del
|
|
|
NM_000252.3(MTM1):c.1467+24dup
|
|
|
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.1468-5T>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.1485T>A (p.Thr495=)
|
rs2148515501
|
|
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.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>T (p.Tyr51=)
|
rs2148434034
|
|
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.1551A>G (p.Glu517=)
|
rs2040258177
|
|
NM_000252.3(MTM1):c.1558C>A (p.Arg520=)
|
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.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.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>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.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>T (p.Arg69Cys)
|
rs132630304
|
|
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.231+8G>A
|
rs2148434174
|
|
NM_000252.3(MTM1):c.232-11G>T
|
|
|
NM_000252.3(MTM1):c.232-12dup
|
|
|
NM_000252.3(MTM1):c.232-8C>T
|
rs782389461
|
|
NM_000252.3(MTM1):c.232G>C (p.Asp78His)
|
|
|
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.301A>G (p.Ser101Gly)
|
rs587783818
|
|
NM_000252.3(MTM1):c.310G>T (p.Glu104Ter)
|
rs2148456062
|
|
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.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+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.343-3dup
|
rs2148461677
|
|
NM_000252.3(MTM1):c.345C>T (p.Asp115=)
|
rs2148461700
|
|
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.396T>C (p.Asp132=)
|
|
|
NM_000252.3(MTM1):c.397A>G (p.Met133Val)
|
rs2039434563
|
|
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.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.466G>A (p.Glu156Lys)
|
|
|
NM_000252.3(MTM1):c.473del (p.Lys158fs)
|
|
|
NM_000252.3(MTM1):c.483G>A (p.Val161=)
|
|
|
NM_000252.3(MTM1):c.495A>G (p.Thr165=)
|
|
|
NM_000252.3(MTM1):c.501C>T (p.Tyr167=)
|
rs2039803075
|
|
NM_000252.3(MTM1):c.504T>C (p.Asn168=)
|
|
|
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.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.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.535C>A (p.Pro179Thr)
|
rs587783832
|
|
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.549dup (p.Arg184fs)
|
rs797045719
|
|
NM_000252.3(MTM1):c.553A>T (p.Ile185Leu)
|
rs2148488427
|
|
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.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.5C>T (p.Ala2Val)
|
rs1603118990
|
|
NM_000252.3(MTM1):c.600T>G (p.Ala200=)
|
|
|
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+21del
|
|
|
NM_000252.3(MTM1):c.63+7del
|
rs782222093
|
|
NM_000252.3(MTM1):c.636C>T (p.Asp212=)
|
|
|
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.678+18C>T
|
|
|
NM_000252.3(MTM1):c.678+19G>A
|
rs1215955664
|
|
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.679G>A (p.Val227Met)
|
rs587783850
|
|
NM_000252.3(MTM1):c.684G>A (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.734C>T (p.Pro245Leu)
|
rs1557413958
|
|
NM_000252.3(MTM1):c.742G>A (p.Gly248Ser)
|
rs368335697
|
|
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.76_90del (p.Gly26_Asp30del)
|
rs1603124011
|
|
NM_000252.3(MTM1):c.774G>A (p.Glu258=)
|
rs2148493209
|
|
NM_000252.3(MTM1):c.784G>A (p.Asp262Asn)
|
|
|
NM_000252.3(MTM1):c.787G>A (p.Val263Ile)
|
|
|
NM_000252.3(MTM1):c.800C>T (p.Thr267Ile)
|
|
|
NM_000252.3(MTM1):c.804_805del (p.Asn268fs)
|
|
|
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.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.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.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.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.913G>A (p.Glu305Lys)
|
rs587783861
|
|
NM_000252.3(MTM1):c.913G>C (p.Glu305Gln)
|
rs587783861
|
|
NM_000252.3(MTM1):c.930C>T (p.Asp310=)
|
rs1603196546
|
|
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.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.972G>A (p.Val324=)
|
|
|
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=)
|
|
|