NM_018834.6(MATR3):c.1602+6A>G
|
rs80036770
|
0.01434
|
NM_018834.6(MATR3):c.1347C>T (p.Ala449=)
|
rs141986556
|
0.00120
|
NM_018834.6(MATR3):c.2360A>G (p.Asn787Ser)
|
rs148402819
|
0.00083
|
NM_018834.6(MATR3):c.1991A>C (p.Glu664Ala)
|
rs139589527
|
0.00034
|
NM_018834.6(MATR3):c.291A>G (p.Leu97=)
|
rs147239107
|
0.00034
|
NM_018834.6(MATR3):c.1130-5T>A
|
rs188905656
|
0.00033
|
NM_018834.6(MATR3):c.1893C>T (p.Ser631=)
|
rs143527811
|
0.00033
|
NM_018834.6(MATR3):c.2494-6T>A
|
rs376395410
|
0.00029
|
NM_018834.6(MATR3):c.1183-5G>A
|
rs369464069
|
0.00028
|
NM_018834.6(MATR3):c.1130-4A>G
|
rs371701183
|
0.00027
|
NM_018834.6(MATR3):c.1435-20G>A
|
rs75623350
|
0.00027
|
NM_018834.6(MATR3):c.2521C>T (p.Arg841Cys)
|
rs781050726
|
0.00022
|
NM_018834.6(MATR3):c.2284G>A (p.Ala762Thr)
|
rs148487997
|
0.00019
|
NM_018834.6(MATR3):c.1132G>A (p.Ala378Thr)
|
rs201075828
|
0.00017
|
NM_018834.6(MATR3):c.2234C>T (p.Ala745Val)
|
rs199797401
|
0.00015
|
NM_018834.6(MATR3):c.2504A>G (p.Asn835Ser)
|
rs201165929
|
0.00015
|
NM_018834.6(MATR3):c.1377G>A (p.Ala459=)
|
rs147356202
|
0.00014
|
NM_018834.6(MATR3):c.2283C>T (p.Asn761=)
|
rs189752689
|
0.00014
|
NM_018834.6(MATR3):c.265A>G (p.Ile89Val)
|
rs528548235
|
0.00010
|
NM_018834.6(MATR3):c.1116A>G (p.Pro372=)
|
rs375938101
|
0.00009
|
NM_018834.6(MATR3):c.2264A>G (p.Asn755Ser)
|
rs144637575
|
0.00009
|
NM_018834.6(MATR3):c.2543A>G (p.Ter848=)
|
rs200664940
|
0.00009
|
NM_199189.3(MATR3):c.-339+2T>A
|
rs539017488
|
0.00009
|
NM_018834.6(MATR3):c.1435-14_1435-11del
|
rs754942776
|
0.00008
|
NM_018834.6(MATR3):c.1129+9A>G
|
rs372039740
|
0.00006
|
NM_018834.6(MATR3):c.2374A>G (p.Ile792Val)
|
rs766453846
|
0.00006
|
NM_018834.6(MATR3):c.1866C>T (p.Thr622=)
|
rs539542619
|
0.00005
|
NM_018834.6(MATR3):c.1368C>T (p.Thr456=)
|
rs200027384
|
0.00004
|
NM_018834.6(MATR3):c.1778+3A>G
|
rs568895329
|
0.00004
|
NM_018834.6(MATR3):c.1778+5T>C
|
rs377212154
|
0.00004
|
NM_018834.6(MATR3):c.1896T>C (p.Gly632=)
|
rs202208841
|
0.00004
|
NM_018834.6(MATR3):c.1915A>G (p.Thr639Ala)
|
rs765603068
|
0.00004
|
NM_018834.6(MATR3):c.2191T>C (p.Leu731=)
|
rs149714542
|
0.00004
|
NM_018834.6(MATR3):c.2314G>A (p.Asp772Asn)
|
rs774070119
|
0.00004
|
NM_018834.6(MATR3):c.2454T>C (p.Asn818=)
|
rs146550337
|
0.00004
|
NM_018834.6(MATR3):c.561T>G (p.Asp187Glu)
|
rs374819399
|
0.00004
|
NM_018834.6(MATR3):c.1435-8T>C
|
rs1055412692
|
0.00003
|
NM_018834.6(MATR3):c.2135A>G (p.Lys712Arg)
|
rs750375963
|
0.00003
|
NM_018834.6(MATR3):c.2273C>A (p.Thr758Lys)
|
rs757346695
|
0.00003
|
NM_018834.6(MATR3):c.2282A>G (p.Asn761Ser)
|
rs758675030
|
0.00003
|
NM_018834.6(MATR3):c.2494-14C>A
|
rs779597861
|
0.00003
|
NM_018834.6(MATR3):c.379C>T (p.Arg127Cys)
|
rs768516057
|
0.00003
|
NM_018834.6(MATR3):c.384T>C (p.Tyr128=)
|
rs776371632
|
0.00003
|
NM_018834.6(MATR3):c.732T>C (p.His244=)
|
rs765914696
|
0.00003
|
NM_018834.6(MATR3):c.975-15C>T
|
rs370659966
|
0.00003
|
NM_018834.6(MATR3):c.1366A>G (p.Thr456Ala)
|
rs748098389
|
0.00002
|
NM_018834.6(MATR3):c.1479G>A (p.Glu493=)
|
rs751178653
|
0.00002
|
NM_018834.6(MATR3):c.1735-11T>C
|
rs200942842
|
0.00002
|
NM_018834.6(MATR3):c.1917A>G (p.Thr639=)
|
rs147164878
|
0.00002
|
NM_018834.6(MATR3):c.2038G>A (p.Asp680Asn)
|
rs752161415
|
0.00002
|
NM_018834.6(MATR3):c.2114G>T (p.Ser705Ile)
|
rs201970174
|
0.00002
|
NM_018834.6(MATR3):c.2128G>A (p.Ala710Thr)
|
rs1314919388
|
0.00002
|
NM_018834.6(MATR3):c.2242T>C (p.Ser748Pro)
|
rs772562504
|
0.00002
|
NM_018834.6(MATR3):c.2251G>A (p.Ala751Thr)
|
rs774158046
|
0.00002
|
NM_018834.6(MATR3):c.2525G>C (p.Arg842Thr)
|
rs749235364
|
0.00002
|
NM_018834.6(MATR3):c.531T>C (p.Asp177=)
|
rs367924183
|
0.00002
|
NM_018834.6(MATR3):c.620G>A (p.Arg207His)
|
rs749335257
|
0.00002
|
NM_018834.6(MATR3):c.657T>C (p.Tyr219=)
|
rs775810771
|
0.00002
|
NM_018834.6(MATR3):c.670T>C (p.Leu224=)
|
rs761066793
|
0.00002
|
NM_018834.6(MATR3):c.69G>A (p.Ala23=)
|
rs750693851
|
0.00002
|
NM_018834.6(MATR3):c.1130-9C>T
|
rs760841083
|
0.00001
|
NM_018834.6(MATR3):c.1139A>G (p.Asn380Ser)
|
rs948428305
|
0.00001
|
NM_018834.6(MATR3):c.1187C>G (p.Thr396Ser)
|
rs1755320528
|
0.00001
|
NM_018834.6(MATR3):c.1235G>A (p.Arg412Lys)
|
rs1291862870
|
0.00001
|
NM_018834.6(MATR3):c.1348G>A (p.Ala450Thr)
|
rs779612686
|
0.00001
|
NM_018834.6(MATR3):c.1363A>G (p.Thr455Ala)
|
rs781213918
|
0.00001
|
NM_018834.6(MATR3):c.1401A>G (p.Arg467=)
|
rs774463869
|
0.00001
|
NM_018834.6(MATR3):c.1404T>C (p.Val468=)
|
rs1429293984
|
0.00001
|
NM_018834.6(MATR3):c.1435-10T>C
|
rs772340385
|
0.00001
|
NM_018834.6(MATR3):c.1464T>A (p.Phe488Leu)
|
rs777025841
|
0.00001
|
NM_018834.6(MATR3):c.1512G>A (p.Pro504=)
|
rs777712375
|
0.00001
|
NM_018834.6(MATR3):c.15C>T (p.Phe5=)
|
rs184609870
|
0.00001
|
NM_018834.6(MATR3):c.1603-9C>A
|
rs188764121
|
0.00001
|
NM_018834.6(MATR3):c.1636A>G (p.Met546Val)
|
rs1412628714
|
0.00001
|
NM_018834.6(MATR3):c.1638G>A (p.Met546Ile)
|
rs748592981
|
0.00001
|
NM_018834.6(MATR3):c.1864A>G (p.Thr622Ala)
|
rs587777301
|
0.00001
|
NM_018834.6(MATR3):c.1874A>C (p.Lys625Thr)
|
rs1488614478
|
0.00001
|
NM_018834.6(MATR3):c.1879C>G (p.Gln627Glu)
|
rs772231433
|
0.00001
|
NM_018834.6(MATR3):c.1885_1887del (p.Glu629del)
|
rs1186297721
|
0.00001
|
NM_018834.6(MATR3):c.1938G>A (p.Gln646=)
|
rs755732018
|
0.00001
|
NM_018834.6(MATR3):c.1947T>C (p.Asn649=)
|
rs777432521
|
0.00001
|
NM_018834.6(MATR3):c.1949T>C (p.Met650Thr)
|
rs1176347654
|
0.00001
|
NM_018834.6(MATR3):c.1953T>C (p.Leu651=)
|
rs770765421
|
0.00001
|
NM_018834.6(MATR3):c.1997C>T (p.Ala666Val)
|
rs1261252930
|
0.00001
|
NM_018834.6(MATR3):c.2120C>T (p.Ser707Leu)
|
rs1228960452
|
0.00001
|
NM_018834.6(MATR3):c.2155A>G (p.Lys719Glu)
|
rs759928245
|
0.00001
|
NM_018834.6(MATR3):c.2161G>A (p.Glu721Lys)
|
rs764645698
|
0.00001
|
NM_018834.6(MATR3):c.2180A>G (p.Asn727Ser)
|
rs1468138513
|
0.00001
|
NM_018834.6(MATR3):c.2181C>T (p.Asn727=)
|
rs772833565
|
0.00001
|
NM_018834.6(MATR3):c.2213A>G (p.Glu738Gly)
|
rs538917496
|
0.00001
|
NM_018834.6(MATR3):c.2227C>T (p.Pro743Ser)
|
rs1452954379
|
0.00001
|
NM_018834.6(MATR3):c.2238A>G (p.Glu746=)
|
rs747456128
|
0.00001
|
NM_018834.6(MATR3):c.2265C>T (p.Asn755=)
|
rs1361987333
|
0.00001
|
NM_018834.6(MATR3):c.2271T>C (p.Asp757=)
|
rs753870064
|
0.00001
|
NM_018834.6(MATR3):c.2357C>G (p.Pro786Arg)
|
rs765284792
|
0.00001
|
NM_018834.6(MATR3):c.2372-3dup
|
rs1561945483
|
0.00001
|
NM_018834.6(MATR3):c.2460T>C (p.His820=)
|
rs1271177846
|
0.00001
|
NM_018834.6(MATR3):c.2507A>C (p.Lys836Thr)
|
rs912142064
|
0.00001
|
NM_018834.6(MATR3):c.2538A>G (p.Glu846=)
|
rs747688305
|
0.00001
|
NM_018834.6(MATR3):c.256A>G (p.Ile86Val)
|
rs201277902
|
0.00001
|
NM_018834.6(MATR3):c.304C>T (p.Arg102Cys)
|
rs1327023414
|
0.00001
|
NM_018834.6(MATR3):c.322G>T (p.Ala108Ser)
|
rs745440760
|
0.00001
|
NM_018834.6(MATR3):c.325A>G (p.Ser109Gly)
|
rs1255035245
|
0.00001
|
NM_018834.6(MATR3):c.329A>C (p.Asn110Thr)
|
rs1433371817
|
0.00001
|
NM_018834.6(MATR3):c.344T>G (p.Phe115Cys)
|
rs587777300
|
0.00001
|
NM_018834.6(MATR3):c.393C>A (p.Asp131Glu)
|
rs761842979
|
0.00001
|
NM_018834.6(MATR3):c.507A>G (p.Pro169=)
|
rs1336473659
|
0.00001
|
NM_018834.6(MATR3):c.597G>A (p.Val199=)
|
rs1754794221
|
0.00001
|
NM_018834.6(MATR3):c.689G>T (p.Cys230Phe)
|
rs200871699
|
0.00001
|
NM_018834.6(MATR3):c.769C>G (p.Pro257Ala)
|
rs774478774
|
0.00001
|
NM_018834.6(MATR3):c.827G>A (p.Ser276Asn)
|
rs762374587
|
0.00001
|
NM_018834.6(MATR3):c.898G>A (p.Val300Ile)
|
rs1307308858
|
0.00001
|
NM_018834.6(MATR3):c.960G>T (p.Gln320His)
|
rs773617455
|
0.00001
|
NM_018834.6(MATR3):c.974+7G>A
|
rs1443299870
|
0.00001
|
NC_000005.9:g.(?_138608441)_(138668366_?)del
|
|
|
NC_000005.9:g.(?_138643105)_(138644036_?)dup
|
|
|
NC_000005.9:g.(?_138643105)_(138665084_?)dup
|
|
|
NM_018834.6(MATR3):c.1003A>G (p.Thr335Ala)
|
|
|
NM_018834.6(MATR3):c.1010A>G (p.His337Arg)
|
rs553687055
|
|
NM_018834.6(MATR3):c.1013C>G (p.Thr338Arg)
|
|
|
NM_018834.6(MATR3):c.1016+13T>C
|
|
|
NM_018834.6(MATR3):c.1017-16G>A
|
rs2151984888
|
|
NM_018834.6(MATR3):c.1017-4C>T
|
rs1035772952
|
|
NM_018834.6(MATR3):c.1017-4dup
|
|
|
NM_018834.6(MATR3):c.102G>A (p.Gln34=)
|
rs747469006
|
|
NM_018834.6(MATR3):c.1090C>T (p.His364Tyr)
|
rs1561938220
|
|
NM_018834.6(MATR3):c.1129+7A>G
|
rs1477606021
|
|
NM_018834.6(MATR3):c.112A>G (p.Met38Val)
|
|
|
NM_018834.6(MATR3):c.1130-14C>G
|
|
|
NM_018834.6(MATR3):c.1130-15T>A
|
|
|
NM_018834.6(MATR3):c.1130-15T>C
|
|
|
NM_018834.6(MATR3):c.1130-18C>A
|
rs1755284160
|
|
NM_018834.6(MATR3):c.1130-8C>G
|
|
|
NM_018834.6(MATR3):c.1165A>G (p.Met389Val)
|
|
|
NM_018834.6(MATR3):c.1182+11A>G
|
rs774114454
|
|
NM_018834.6(MATR3):c.1182+17T>G
|
|
|
NM_018834.6(MATR3):c.1182+4A>C
|
rs2151988816
|
|
NM_018834.6(MATR3):c.1183-4A>T
|
|
|
NM_018834.6(MATR3):c.1183-5del
|
|
|
NM_018834.6(MATR3):c.1245A>G (p.Leu415=)
|
|
|
NM_018834.6(MATR3):c.1246T>A (p.Leu416Ile)
|
|
|
NM_018834.6(MATR3):c.1252C>T (p.Leu418=)
|
|
|
NM_018834.6(MATR3):c.1263A>G (p.Pro421=)
|
rs1581248568
|
|
NM_018834.6(MATR3):c.1273A>G (p.Ile425Val)
|
|
|
NM_018834.6(MATR3):c.1284T>C (p.His428=)
|
|
|
NM_018834.6(MATR3):c.1308+18G>A
|
|
|
NM_018834.6(MATR3):c.1308+24_1308+26del
|
|
|
NM_018834.6(MATR3):c.1309-10A>G
|
|
|
NM_018834.6(MATR3):c.1328C>A (p.Thr443Asn)
|
rs2151995266
|
|
NM_018834.6(MATR3):c.1332A>G (p.Thr444=)
|
|
|
NM_018834.6(MATR3):c.1343A>G (p.Gln448Arg)
|
|
|
NM_018834.6(MATR3):c.1344G>C (p.Gln448His)
|
|
|
NM_018834.6(MATR3):c.1345G>T (p.Ala449Ser)
|
|
|
NM_018834.6(MATR3):c.1355A>G (p.Asp452Gly)
|
|
|
NM_018834.6(MATR3):c.1356T>G (p.Asp452Glu)
|
|
|
NM_018834.6(MATR3):c.1383A>G (p.Val461=)
|
|
|
NM_018834.6(MATR3):c.1398G>A (p.Val466=)
|
|
|
NM_018834.6(MATR3):c.1413C>A (p.Ser471=)
|
|
|
NM_018834.6(MATR3):c.1434+10del
|
rs2151995486
|
|
NM_018834.6(MATR3):c.1435-17G>A
|
rs1291025838
|
|
NM_018834.6(MATR3):c.1486C>A (p.Arg496Ser)
|
|
|
NM_018834.6(MATR3):c.1486C>T (p.Arg496Cys)
|
|
|
NM_018834.6(MATR3):c.1498C>T (p.Leu500Phe)
|
|
|
NM_018834.6(MATR3):c.1531A>T (p.Ser511Cys)
|
|
|
NM_018834.6(MATR3):c.153C>T (p.Arg51=)
|
|
|
NM_018834.6(MATR3):c.1555delinsAACTTT (p.Pro519fs)
|
|
|
NM_018834.6(MATR3):c.1572G>T (p.Lys524Asn)
|
rs1581251198
|
|
NM_018834.6(MATR3):c.1596A>G (p.Lys532=)
|
|
|
NM_018834.6(MATR3):c.1598G>A (p.Ser533Asn)
|
rs1033118784
|
|
NM_018834.6(MATR3):c.1602+10A>G
|
|
|
NM_018834.6(MATR3):c.1602+9C>T
|
|
|
NM_018834.6(MATR3):c.1603-11T>C
|
|
|
NM_018834.6(MATR3):c.1603-11T>G
|
|
|
NM_018834.6(MATR3):c.1603-13_1603-12del
|
|
|
NM_018834.6(MATR3):c.1603-17T>C
|
rs199789148
|
|
NM_018834.6(MATR3):c.1603-17T>G
|
|
|
NM_018834.6(MATR3):c.1603-18C>G
|
|
|
NM_018834.6(MATR3):c.1603-18C>T
|
|
|
NM_018834.6(MATR3):c.1603-19T>C
|
|
|
NM_018834.6(MATR3):c.1603-7T>C
|
rs1161987811
|
|
NM_018834.6(MATR3):c.1603-7_1603-4del
|
|
|
NM_018834.6(MATR3):c.1603-9_1603-6del
|
|
|
NM_018834.6(MATR3):c.1603-9_1603-8del
|
rs1581255414
|
|
NM_018834.6(MATR3):c.1617G>A (p.Met539Ile)
|
rs2152007107
|
|
NM_018834.6(MATR3):c.1629A>G (p.Glu543=)
|
|
|
NM_018834.6(MATR3):c.1642A>G (p.Met548Val)
|
|
|
NM_018834.6(MATR3):c.1654T>A (p.Cys552Ser)
|
rs2152007192
|
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NM_018834.6(MATR3):c.1658T>C (p.Leu553Ser)
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|
NM_018834.6(MATR3):c.165A>G (p.Leu55=)
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|
NM_018834.6(MATR3):c.1668C>T (p.Ala556=)
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|
NM_018834.6(MATR3):c.1689T>C (p.Cys563=)
|
rs201037038
|
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NM_018834.6(MATR3):c.1716T>C (p.Tyr572=)
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|
NM_018834.6(MATR3):c.1734+10A>G
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NM_018834.6(MATR3):c.1734+11T>G
|
rs886059990
|
|
NM_018834.6(MATR3):c.1734+19G>A
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NM_018834.6(MATR3):c.1734+7A>G
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NM_018834.6(MATR3):c.1735-18A>C
|
rs781510247
|
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NM_018834.6(MATR3):c.1735-19C>G
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NM_018834.6(MATR3):c.1736T>A (p.Ile579Asn)
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|
NM_018834.6(MATR3):c.1778+17T>C
|
rs776365113
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NM_018834.6(MATR3):c.1778+19del
|
rs753454728
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NM_018834.6(MATR3):c.1779-19T>G
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NM_018834.6(MATR3):c.1779-20GT[2]
|
rs779005896
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NM_018834.6(MATR3):c.1799A>G (p.Asp600Gly)
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NM_018834.6(MATR3):c.1803C>G (p.Gly601=)
|
rs746452114
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NM_018834.6(MATR3):c.1812T>A (p.Ser604=)
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NM_018834.6(MATR3):c.1813C>T (p.Pro605Ser)
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NM_018834.6(MATR3):c.1839T>C (p.Asp613=)
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NM_018834.6(MATR3):c.1847A>G (p.Gln616Arg)
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rs2152009933
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NM_018834.6(MATR3):c.184T>A (p.Ser62Thr)
|
rs1357612214
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NM_018834.6(MATR3):c.1854T>A (p.Thr618=)
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NM_018834.6(MATR3):c.1861T>G (p.Ser621Ala)
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NM_018834.6(MATR3):c.1878A>T (p.Glu626Asp)
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NM_018834.6(MATR3):c.1880A>G (p.Gln627Arg)
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rs2152010076
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NM_018834.6(MATR3):c.1894G>A (p.Gly632Ser)
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NM_018834.6(MATR3):c.1899A>G (p.Glu633=)
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NM_018834.6(MATR3):c.18G>A (p.Gln6=)
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NM_018834.6(MATR3):c.1904G>A (p.Gly635Asp)
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rs1755638457
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NM_018834.6(MATR3):c.1908G>A (p.Glu636=)
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NM_018834.6(MATR3):c.190T>C (p.Leu64=)
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rs775134951
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NM_018834.6(MATR3):c.1912G>C (p.Asp638His)
|
rs1554148872
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NM_018834.6(MATR3):c.1913A>C (p.Asp638Ala)
|
rs2152010206
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NM_018834.6(MATR3):c.1914C>T (p.Asp638=)
|
rs369312174
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NM_018834.6(MATR3):c.1915A>T (p.Thr639Ser)
|
rs765603068
|
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NM_018834.6(MATR3):c.1920G>A (p.Lys640=)
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NM_018834.6(MATR3):c.1924G>A (p.Asp642Asn)
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NM_018834.6(MATR3):c.1925A>G (p.Asp642Gly)
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NM_018834.6(MATR3):c.1927C>A (p.Gln643Lys)
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NM_018834.6(MATR3):c.1929G>C (p.Gln643His)
|
rs553655919
|
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NM_018834.6(MATR3):c.1929G>T (p.Gln643His)
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NM_018834.6(MATR3):c.1948A>C (p.Met650Leu)
|
rs749026971
|
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NM_018834.6(MATR3):c.1948A>G (p.Met650Val)
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NM_018834.6(MATR3):c.196C>A (p.Gln66Lys)
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NM_018834.6(MATR3):c.1971G>C (p.Glu657Asp)
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NM_018834.6(MATR3):c.1972C>T (p.Leu658=)
|
rs745805004
|
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NM_018834.6(MATR3):c.2016C>G (p.Gly672=)
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NM_018834.6(MATR3):c.2031C>T (p.Asp677=)
|
rs557085910
|
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NM_018834.6(MATR3):c.2035A>G (p.Thr679Ala)
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NM_018834.6(MATR3):c.2038G>C (p.Asp680His)
|
rs752161415
|
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NM_018834.6(MATR3):c.2046T>A (p.Ala682=)
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NM_018834.6(MATR3):c.2060T>G (p.Val687Gly)
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NM_018834.6(MATR3):c.2066C>A (p.Ser689Tyr)
|
rs765251685
|
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NM_018834.6(MATR3):c.2072G>A (p.Gly691Glu)
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NM_018834.6(MATR3):c.2075A>G (p.Lys692Arg)
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NM_018834.6(MATR3):c.2076A>G (p.Lys692=)
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NM_018834.6(MATR3):c.2107G>A (p.Asp703Asn)
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NM_018834.6(MATR3):c.2113A>T (p.Ser705Cys)
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NM_018834.6(MATR3):c.2128G>T (p.Ala710Ser)
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NM_018834.6(MATR3):c.2133G>C (p.Lys711Asn)
|
rs2152010949
|
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NM_018834.6(MATR3):c.2148+14C>G
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NM_018834.6(MATR3):c.2148+17T>A
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NM_018834.6(MATR3):c.2148+3A>G
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NM_018834.6(MATR3):c.2148+8_2148+11del
|
rs745750214
|
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NM_018834.6(MATR3):c.2148+9A>G
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NM_018834.6(MATR3):c.2149-5T>C
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NM_018834.6(MATR3):c.2149-8A>G
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NM_018834.6(MATR3):c.2156A>G (p.Lys719Arg)
|
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NM_018834.6(MATR3):c.2160C>T (p.Ile720=)
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NM_018834.6(MATR3):c.2167C>T (p.Leu723Phe)
|
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NM_018834.6(MATR3):c.2170G>C (p.Asp724His)
|
rs1452903586
|
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NM_018834.6(MATR3):c.2171A>T (p.Asp724Val)
|
rs1235948155
|
|
NM_018834.6(MATR3):c.2181C>G (p.Asn727Lys)
|
rs772833565
|
|
NM_018834.6(MATR3):c.2185G>A (p.Ala729Thr)
|
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NM_018834.6(MATR3):c.2187A>G (p.Ala729=)
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NM_018834.6(MATR3):c.2189C>G (p.Ala730Gly)
|
rs762668138
|
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NM_018834.6(MATR3):c.2190G>A (p.Ala730=)
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NM_018834.6(MATR3):c.2192T>G (p.Leu731Trp)
|
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NM_018834.6(MATR3):c.2199T>C (p.Asn733=)
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NM_018834.6(MATR3):c.2203A>C (p.Ile735Leu)
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NM_018834.6(MATR3):c.2203A>G (p.Ile735Val)
|
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NM_018834.6(MATR3):c.2219A>G (p.Asn740Ser)
|
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NM_018834.6(MATR3):c.2220C>T (p.Asn740=)
|
rs1204915381
|
|
NM_018834.6(MATR3):c.2223A>G (p.Thr741=)
|
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|
NM_018834.6(MATR3):c.2232T>G (p.Gly744=)
|
rs1581261752
|
|
NM_018834.6(MATR3):c.2235T>C (p.Ala745=)
|
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|
NM_018834.6(MATR3):c.2237A>G (p.Glu746Gly)
|
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|
NM_018834.6(MATR3):c.2254GAT[1] (p.Asp753del)
|
rs1016579955
|
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NM_018834.6(MATR3):c.2279A>G (p.Glu760Gly)
|
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|
NM_018834.6(MATR3):c.2300A>T (p.Asp767Val)
|
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|
NM_018834.6(MATR3):c.2301T>A (p.Asp767Glu)
|
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|
NM_018834.6(MATR3):c.2301T>C (p.Asp767=)
|
rs748749843
|
|
NM_018834.6(MATR3):c.2302_2304del (p.Glu768del)
|
|
|
NM_018834.6(MATR3):c.2310G>C (p.Lys770Asn)
|
rs1755815403
|
|
NM_018834.6(MATR3):c.2313C>T (p.Asp771=)
|
|
|
NM_018834.6(MATR3):c.2317T>A (p.Tyr773Asn)
|
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NM_018834.6(MATR3):c.2317T>G (p.Tyr773Asp)
|
|
|
NM_018834.6(MATR3):c.2318A>C (p.Tyr773Ser)
|
rs368217486
|
|
NM_018834.6(MATR3):c.2318A>G (p.Tyr773Cys)
|
rs368217486
|
|
NM_018834.6(MATR3):c.2323A>G (p.Ile775Val)
|
|
|
NM_018834.6(MATR3):c.2326C>T (p.Pro776Ser)
|
rs370051410
|
|
NM_018834.6(MATR3):c.2327C>T (p.Pro776Leu)
|
|
|
NM_018834.6(MATR3):c.2331T>C (p.Asp777=)
|
|
|
NM_018834.6(MATR3):c.233C>A (p.Thr78Asn)
|
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|
NM_018834.6(MATR3):c.2348C>A (p.Pro783Gln)
|
|
|
NM_018834.6(MATR3):c.2363T>C (p.Val788Ala)
|
|
|
NM_018834.6(MATR3):c.2371+10A>G
|
|
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NM_018834.6(MATR3):c.2371+13T>G
|
rs2152022664
|
|
NM_018834.6(MATR3):c.2371+2_2371+3insATAGACTATGTGATACCTAAAACAG
|
|
|
NM_018834.6(MATR3):c.2372-4C>T
|
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|
NM_018834.6(MATR3):c.2377G>A (p.Asp793Asn)
|
|
|
NM_018834.6(MATR3):c.2424C>G (p.Leu808=)
|
rs2152024327
|
|
NM_018834.6(MATR3):c.2448A>G (p.Ala816=)
|
|
|
NM_018834.6(MATR3):c.2473C>G (p.Pro825Ala)
|
|
|
NM_018834.6(MATR3):c.2483A>G (p.Gln828Arg)
|
rs2152024424
|
|
NM_018834.6(MATR3):c.2493+12T>A
|
|
|
NM_018834.6(MATR3):c.2493+19C>T
|
rs2152024488
|
|
NM_018834.6(MATR3):c.2493+3A>G
|
rs2152024439
|
|
NM_018834.6(MATR3):c.2494-12_2494-11del
|
rs756391139
|
|
NM_018834.6(MATR3):c.2494-14_2494-11del
|
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|
NM_018834.6(MATR3):c.2494-8_2494-5del
|
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|
NM_018834.6(MATR3):c.2494-9T>C
|
|
|
NM_018834.6(MATR3):c.2494-9_2494-8delinsAA
|
|
|
NM_018834.6(MATR3):c.2496A>G (p.Lys832=)
|
|
|
NM_018834.6(MATR3):c.2527C>G (p.Gln843Glu)
|
rs2152033705
|
|
NM_018834.6(MATR3):c.2530AAG[1] (p.Lys845del)
|
rs1232740498
|
|
NM_018834.6(MATR3):c.2533A>G (p.Lys845Glu)
|
|
|
NM_018834.6(MATR3):c.2539A>G (p.Thr847Ala)
|
|
|
NM_018834.6(MATR3):c.254C>G (p.Ser85Cys)
|
rs121434591
|
|
NM_018834.6(MATR3):c.272G>A (p.Ser91Asn)
|
rs1460343731
|
|
NM_018834.6(MATR3):c.298C>G (p.Gln100Glu)
|
|
|
NM_018834.6(MATR3):c.306T>C (p.Arg102=)
|
rs1397245799
|
|
NM_018834.6(MATR3):c.306T>G (p.Arg102=)
|
|
|
NM_018834.6(MATR3):c.334T>C (p.Leu112=)
|
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NM_018834.6(MATR3):c.420A>G (p.Gln140=)
|
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|
NM_018834.6(MATR3):c.429A>G (p.Leu143=)
|
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|
NM_018834.6(MATR3):c.439A>C (p.Arg147=)
|
|
|
NM_018834.6(MATR3):c.449C>G (p.Thr150Ser)
|
rs2151960855
|
|
NM_018834.6(MATR3):c.459C>G (p.Gly153=)
|
|
|
NM_018834.6(MATR3):c.460C>T (p.Pro154Ser)
|
rs587777302
|
|
NM_018834.6(MATR3):c.462T>C (p.Pro154=)
|
|
|
NM_018834.6(MATR3):c.474T>C (p.Tyr158=)
|
|
|
NM_018834.6(MATR3):c.491C>T (p.Ser164Phe)
|
rs1191529191
|
|
NM_018834.6(MATR3):c.493_495del (p.Ala165del)
|
rs760040641
|
|
NM_018834.6(MATR3):c.499C>T (p.Arg167Trp)
|
rs138894013
|
|
NM_018834.6(MATR3):c.504G>A (p.Glu168=)
|
|
|
NM_018834.6(MATR3):c.532T>C (p.Trp178Arg)
|
|
|
NM_018834.6(MATR3):c.575G>A (p.Arg192His)
|
|
|
NM_018834.6(MATR3):c.580C>T (p.Pro194Ser)
|
rs2151961098
|
|
NM_018834.6(MATR3):c.628_630del (p.Glu210del)
|
rs1754795693
|
|
NM_018834.6(MATR3):c.63G>C (p.Leu21=)
|
|
|
NM_018834.6(MATR3):c.663T>C (p.Asp221=)
|
rs2151961303
|
|
NM_018834.6(MATR3):c.675A>G (p.Arg225=)
|
rs199711502
|
|
NM_018834.6(MATR3):c.687G>T (p.Arg229Ser)
|
|
|
NM_018834.6(MATR3):c.68C>T (p.Ala23Val)
|
|
|
NM_018834.6(MATR3):c.697G>A (p.Asp233Asn)
|
|
|
NM_018834.6(MATR3):c.719C>T (p.Ser240Leu)
|
rs2151961434
|
|
NM_018834.6(MATR3):c.743G>T (p.Ser248Ile)
|
|
|
NM_018834.6(MATR3):c.747G>A (p.Glu249=)
|
|
|
NM_018834.6(MATR3):c.749A>G (p.Tyr250Cys)
|
|
|
NM_018834.6(MATR3):c.752A>G (p.Glu251Gly)
|
|
|
NM_018834.6(MATR3):c.776C>T (p.Pro259Leu)
|
|
|
NM_018834.6(MATR3):c.786G>C (p.Glu262Asp)
|
|
|
NM_018834.6(MATR3):c.793C>A (p.Leu265Ile)
|
rs1554146560
|
|
NM_018834.6(MATR3):c.795C>T (p.Leu265=)
|
rs1354833142
|
|
NM_018834.6(MATR3):c.813C>T (p.Gly271=)
|
rs1754806535
|
|
NM_018834.6(MATR3):c.815C>G (p.Ala272Gly)
|
|
|
NM_018834.6(MATR3):c.81C>G (p.Gly27=)
|
|
|
NM_018834.6(MATR3):c.832A>G (p.Ile278Val)
|
rs765718462
|
|
NM_018834.6(MATR3):c.857C>T (p.Pro286Leu)
|
rs1318047828
|
|
NM_018834.6(MATR3):c.85C>T (p.Leu29Phe)
|
rs1754770320
|
|
NM_018834.6(MATR3):c.870C>T (p.Pro290=)
|
|
|
NM_018834.6(MATR3):c.878G>A (p.Cys293Tyr)
|
|
|
NM_018834.6(MATR3):c.883A>G (p.Ile295Val)
|
|
|
NM_018834.6(MATR3):c.88GCT[4] (p.Ala32_Thr33insAla)
|
|
|
NM_018834.6(MATR3):c.897A>C (p.Pro299=)
|
|
|
NM_018834.6(MATR3):c.90T>C (p.Ala30=)
|
|
|
NM_018834.6(MATR3):c.912+11_912+15del
|
|
|
NM_018834.6(MATR3):c.924A>G (p.Gln308=)
|
|
|
NM_018834.6(MATR3):c.93T>G (p.Ala31=)
|
|
|
NM_018834.6(MATR3):c.952C>A (p.Arg318=)
|
|
|
NM_018834.6(MATR3):c.966T>C (p.Leu322=)
|
|
|
NM_018834.6(MATR3):c.974+20T>C
|
|
|
NM_018834.6(MATR3):c.975-9T>G
|
|
|
NM_018834.6(MATR3):c.998A>G (p.Asn333Ser)
|
|
|