NM_000429.3(MAT1A):c.426T>C (p.Ala142=)
|
rs1143694
|
0.76766
|
NM_000429.3(MAT1A):c.870A>G (p.Val290=)
|
rs10788546
|
0.73313
|
NM_000429.3(MAT1A):c.882T>C (p.Ala294=)
|
rs10887711
|
0.73311
|
NM_000429.3(MAT1A):c.1131C>T (p.Tyr377=)
|
rs2993763
|
0.54479
|
NM_000429.3(MAT1A):c.1085+14C>T
|
rs2994388
|
0.54474
|
NM_000429.3(MAT1A):c.92-9C>G
|
rs10887721
|
0.22736
|
NM_000429.3(MAT1A):c.169+14G>A
|
rs117321518
|
0.00826
|
NM_000429.3(MAT1A):c.1005C>T (p.Tyr335=)
|
rs61734474
|
0.00509
|
NM_000429.3(MAT1A):c.1085+15G>A
|
rs147182952
|
0.00401
|
NM_000429.3(MAT1A):c.885A>T (p.Ala295=)
|
rs17851642
|
0.00332
|
NM_000429.3(MAT1A):c.789C>T (p.Gly263=)
|
rs61734475
|
0.00193
|
NM_000429.3(MAT1A):c.429C>T (p.Thr143=)
|
rs141010538
|
0.00051
|
NM_000429.3(MAT1A):c.170-12G>A
|
rs200462189
|
0.00038
|
NM_000429.3(MAT1A):c.696G>A (p.Pro232=)
|
rs139423514
|
0.00029
|
NM_000429.3(MAT1A):c.712G>A (p.Glu238Lys)
|
rs116528173
|
0.00022
|
NM_000429.3(MAT1A):c.705C>T (p.Tyr235=)
|
rs372757656
|
0.00014
|
NM_000429.3(MAT1A):c.981G>A (p.Pro327=)
|
rs149163315
|
0.00012
|
NM_000429.3(MAT1A):c.1086-19C>T
|
rs200191278
|
0.00011
|
NM_000429.3(MAT1A):c.641C>T (p.Thr214Met)
|
rs754347805
|
0.00011
|
NM_000429.3(MAT1A):c.488G>A (p.Arg163Gln)
|
rs752361383
|
0.00009
|
NM_000429.3(MAT1A):c.777G>A (p.Ala259=)
|
rs150664696
|
0.00009
|
NM_000429.3(MAT1A):c.406-7G>A
|
rs763464790
|
0.00008
|
NM_000429.3(MAT1A):c.579C>T (p.Gly193=)
|
rs142189986
|
0.00008
|
NM_000429.3(MAT1A):c.170-20C>T
|
rs375890664
|
0.00007
|
NM_000429.3(MAT1A):c.326C>T (p.Ala109Val)
|
rs750359732
|
0.00007
|
NM_000429.3(MAT1A):c.816C>T (p.Gly272=)
|
rs751778923
|
0.00007
|
NM_000429.3(MAT1A):c.1140C>T (p.Phe380=)
|
rs368336046
|
0.00006
|
NM_000429.3(MAT1A):c.204T>C (p.Cys68=)
|
rs200574801
|
0.00006
|
NM_000429.3(MAT1A):c.550-5G>A
|
rs761943871
|
0.00006
|
NM_000429.3(MAT1A):c.721G>A (p.Val241Ile)
|
rs147356286
|
0.00006
|
NM_000429.3(MAT1A):c.11C>T (p.Pro4Leu)
|
rs546790330
|
0.00005
|
NM_000429.3(MAT1A):c.631G>A (p.Glu211Lys)
|
rs377184051
|
0.00005
|
NM_000429.3(MAT1A):c.1026G>A (p.Glu342=)
|
rs760038479
|
0.00004
|
NM_000429.3(MAT1A):c.241C>T (p.Arg81Trp)
|
rs750570720
|
0.00004
|
NM_000429.3(MAT1A):c.405+7C>T
|
rs199791531
|
0.00004
|
NM_000429.3(MAT1A):c.510C>T (p.Ser170=)
|
rs763409751
|
0.00004
|
NM_000429.3(MAT1A):c.580G>A (p.Ala194Thr)
|
rs148687668
|
0.00004
|
NM_000429.3(MAT1A):c.529C>T (p.Arg177Trp)
|
rs376757912
|
0.00003
|
NM_000429.3(MAT1A):c.745C>T (p.Arg249Trp)
|
rs779094715
|
0.00003
|
NM_000429.3(MAT1A):c.763C>T (p.Pro255Ser)
|
rs913435613
|
0.00003
|
NM_000429.3(MAT1A):c.895C>T (p.Arg299Cys)
|
rs376993881
|
0.00003
|
NM_000429.3(MAT1A):c.1059C>T (p.Phe353=)
|
rs777896485
|
0.00002
|
NM_000429.3(MAT1A):c.1070C>T (p.Pro357Leu)
|
rs118204003
|
0.00002
|
NM_000429.3(MAT1A):c.1074C>T (p.Gly358=)
|
rs373567910
|
0.00002
|
NM_000429.3(MAT1A):c.183G>A (p.Lys61=)
|
rs759429143
|
0.00002
|
NM_000429.3(MAT1A):c.276C>T (p.Tyr92=)
|
rs184358377
|
0.00002
|
NM_000429.3(MAT1A):c.483C>T (p.Asn161=)
|
rs753853381
|
0.00002
|
NM_000429.3(MAT1A):c.642G>A (p.Thr214=)
|
rs539772339
|
0.00002
|
NM_000429.3(MAT1A):c.896G>A (p.Arg299His)
|
rs373792557
|
0.00002
|
NM_000429.3(MAT1A):c.975C>T (p.Ala325=)
|
rs145017867
|
0.00002
|
NM_000429.3(MAT1A):c.1002C>T (p.Thr334=)
|
rs748632409
|
0.00001
|
NM_000429.3(MAT1A):c.1036C>A (p.Leu346Met)
|
rs200157444
|
0.00001
|
NM_000429.3(MAT1A):c.164C>A (p.Ala55Asp)
|
rs118204002
|
0.00001
|
NM_000429.3(MAT1A):c.186C>T (p.Thr62=)
|
rs568227561
|
0.00001
|
NM_000429.3(MAT1A):c.268A>G (p.Ile90Val)
|
rs767250995
|
0.00001
|
NM_000429.3(MAT1A):c.293-20C>T
|
rs367980533
|
0.00001
|
NM_000429.3(MAT1A):c.293-6G>A
|
rs766102623
|
0.00001
|
NM_000429.3(MAT1A):c.319C>G (p.Leu107Val)
|
rs1064793166
|
0.00001
|
NM_000429.3(MAT1A):c.406-3C>T
|
rs374316399
|
0.00001
|
NM_000429.3(MAT1A):c.406-8C>T
|
rs201439535
|
0.00001
|
NM_000429.3(MAT1A):c.511G>A (p.Gly171Ser)
|
rs202159786
|
0.00001
|
NM_000429.3(MAT1A):c.538_539insTG (p.Ser180fs)
|
rs944263459
|
0.00001
|
NM_000429.3(MAT1A):c.546T>C (p.Thr182=)
|
rs1158815802
|
0.00001
|
NM_000429.3(MAT1A):c.595C>T (p.Arg199Cys)
|
rs773267230
|
0.00001
|
NM_000429.3(MAT1A):c.596G>A (p.Arg199His)
|
rs144099376
|
0.00001
|
NM_000429.3(MAT1A):c.609C>T (p.Ile203=)
|
rs748120797
|
0.00001
|
NM_000429.3(MAT1A):c.610G>A (p.Val204Ile)
|
rs780529010
|
0.00001
|
NM_000429.3(MAT1A):c.617C>T (p.Ser206Phe)
|
rs1222154319
|
0.00001
|
NM_000429.3(MAT1A):c.655C>T (p.Arg219Cys)
|
rs1038206403
|
0.00001
|
NM_000429.3(MAT1A):c.66G>A (p.Ser22=)
|
rs114062313
|
0.00001
|
NM_000429.3(MAT1A):c.687C>T (p.Ala229=)
|
rs145297890
|
0.00001
|
NM_000429.3(MAT1A):c.757G>A (p.Gly253Arg)
|
rs1589480590
|
0.00001
|
NM_000429.3(MAT1A):c.875G>A (p.Arg292His)
|
rs781774786
|
0.00001
|
NM_000429.3(MAT1A):c.966T>G (p.Ile322Met)
|
rs118204001
|
0.00001
|
NC_000010.11:g.80275200del
|
|
|
NM_000429.3(MAT1A):c.1041T>C (p.Asp347=)
|
|
|
NM_000429.3(MAT1A):c.1042del (p.Val348fs)
|
|
|
NM_000429.3(MAT1A):c.1062C>T (p.Asp354=)
|
|
|
NM_000429.3(MAT1A):c.1066C>T (p.Arg356Trp)
|
rs116659053
|
|
NM_000429.3(MAT1A):c.1083C>T (p.Val361=)
|
|
|
NM_000429.3(MAT1A):c.1086-13G>A
|
|
|
NM_000429.3(MAT1A):c.1086-1G>T
|
|
|
NM_000429.3(MAT1A):c.110T>C (p.Ile37Thr)
|
|
|
NM_000429.3(MAT1A):c.1150G>A (p.Glu384Lys)
|
|
|
NM_000429.3(MAT1A):c.1152G>A (p.Glu384=)
|
|
|
NM_000429.3(MAT1A):c.1181T>C (p.Val394Ala)
|
|
|
NM_000429.3(MAT1A):c.125_131del (p.Leu42fs)
|
|
|
NM_000429.3(MAT1A):c.155_156delinsTG (p.Ala52Val)
|
|
|
NM_000429.3(MAT1A):c.165C>T (p.Ala55=)
|
rs1305390238
|
|
NM_000429.3(MAT1A):c.169+11C>A
|
|
|
NM_000429.3(MAT1A):c.169+13C>T
|
|
|
NM_000429.3(MAT1A):c.169+17C>T
|
|
|
NM_000429.3(MAT1A):c.170-18C>T
|
rs890646273
|
|
NM_000429.3(MAT1A):c.174A>G (p.Thr58=)
|
rs146794319
|
|
NM_000429.3(MAT1A):c.174A>T (p.Thr58=)
|
rs146794319
|
|
NM_000429.3(MAT1A):c.181A>G (p.Lys61Glu)
|
rs116443228
|
|
NM_000429.3(MAT1A):c.187G>A (p.Gly63Ser)
|
rs770323371
|
|
NM_000429.3(MAT1A):c.198G>A (p.Leu66=)
|
|
|
NM_000429.3(MAT1A):c.21C>G (p.Gly7=)
|
|
|
NM_000429.3(MAT1A):c.220A>G (p.Met74Val)
|
|
|
NM_000429.3(MAT1A):c.224C>A (p.Ala75Asp)
|
|
|
NM_000429.3(MAT1A):c.251G>A (p.Arg84Lys)
|
rs2132708502
|
|
NM_000429.3(MAT1A):c.254A>G (p.Asp85Gly)
|
rs1475134771
|
|
NM_000429.3(MAT1A):c.25T>C (p.Cys9Arg)
|
|
|
NM_000429.3(MAT1A):c.260T>A (p.Ile87Asn)
|
|
|
NM_000429.3(MAT1A):c.271G>A (p.Gly91Ser)
|
|
|
NM_000429.3(MAT1A):c.277G>T (p.Asp93Tyr)
|
rs762357538
|
|
NM_000429.3(MAT1A):c.290A>C (p.Lys97Thr)
|
rs1564647783
|
|
NM_000429.3(MAT1A):c.292+16C>T
|
|
|
NM_000429.3(MAT1A):c.292+17G>A
|
|
|
NM_000429.3(MAT1A):c.293-10T>G
|
|
|
NM_000429.3(MAT1A):c.293-2A>G
|
|
|
NM_000429.3(MAT1A):c.293G>A (p.Gly98Asp)
|
rs2132706282
|
|
NM_000429.3(MAT1A):c.300C>G (p.Asp100Glu)
|
rs1841556570
|
|
NM_000429.3(MAT1A):c.303C>G (p.Phe101Leu)
|
|
|
NM_000429.3(MAT1A):c.311G>T (p.Cys104Phe)
|
|
|
NM_000429.3(MAT1A):c.315C>T (p.Asn105=)
|
|
|
NM_000429.3(MAT1A):c.337C>G (p.Gln113Glu)
|
rs1841555994
|
|
NM_000429.3(MAT1A):c.340T>G (p.Ser114Ala)
|
rs761462996
|
|
NM_000429.3(MAT1A):c.341C>A (p.Ser114Tyr)
|
rs2132706241
|
|
NM_000429.3(MAT1A):c.341C>T (p.Ser114Phe)
|
|
|
NM_000429.3(MAT1A):c.350T>C (p.Ile117Thr)
|
rs1841555804
|
|
NM_000429.3(MAT1A):c.353C>G (p.Ala118Gly)
|
|
|
NM_000429.3(MAT1A):c.355C>T (p.Gln119Ter)
|
|
|
NM_000429.3(MAT1A):c.358T>C (p.Cys120Arg)
|
rs1841555617
|
|
NM_000429.3(MAT1A):c.359G>A (p.Cys120Tyr)
|
rs1589482236
|
|
NM_000429.3(MAT1A):c.35C>A (p.Ser12Tyr)
|
|
|
NM_000429.3(MAT1A):c.360C>T (p.Cys120=)
|
|
|
NM_000429.3(MAT1A):c.361G>A (p.Val121Ile)
|
|
|
NM_000429.3(MAT1A):c.390G>C (p.Val130=)
|
|
|
NM_000429.3(MAT1A):c.390G>T (p.Val130=)
|
|
|
NM_000429.3(MAT1A):c.394G>T (p.Ala132Ser)
|
rs774769057
|
|
NM_000429.3(MAT1A):c.395C>A (p.Ala132Glu)
|
|
|
NM_000429.3(MAT1A):c.405+8G>A
|
|
|
NM_000429.3(MAT1A):c.412A>G (p.Met138Val)
|
rs1469573925
|
|
NM_000429.3(MAT1A):c.417C>T (p.Phe139=)
|
|
|
NM_000429.3(MAT1A):c.418G>A (p.Gly140Ser)
|
|
|
NM_000429.3(MAT1A):c.422A>G (p.Tyr141Cys)
|
|
|
NM_000429.3(MAT1A):c.432C>T (p.Asp144=)
|
|
|
NM_000429.3(MAT1A):c.433G>A (p.Glu145Lys)
|
|
|
NM_000429.3(MAT1A):c.452C>T (p.Pro151Leu)
|
rs1470971533
|
|
NM_000429.3(MAT1A):c.475A>C (p.Lys159Gln)
|
|
|
NM_000429.3(MAT1A):c.492G>A (p.Met164Ile)
|
|
|
NM_000429.3(MAT1A):c.505C>T (p.Arg169Cys)
|
|
|
NM_000429.3(MAT1A):c.506G>A (p.Arg169His)
|
rs766735917
|
|
NM_000429.3(MAT1A):c.508T>C (p.Ser170Pro)
|
|
|
NM_000429.3(MAT1A):c.521C>T (p.Pro174Leu)
|
|
|
NM_000429.3(MAT1A):c.530G>C (p.Arg177Pro)
|
|
|
NM_000429.3(MAT1A):c.536A>T (p.Asp179Val)
|
|
|
NM_000429.3(MAT1A):c.545C>T (p.Thr182Ile)
|
|
|
NM_000429.3(MAT1A):c.547C>A (p.Gln183Lys)
|
|
|
NM_000429.3(MAT1A):c.550-9G>C
|
rs1589480725
|
|
NM_000429.3(MAT1A):c.571G>A (p.Asp191Asn)
|
|
|
NM_000429.3(MAT1A):c.575A>G (p.Asn192Ser)
|
|
|
NM_000429.3(MAT1A):c.588C>T (p.Ile196=)
|
|
|
NM_000429.3(MAT1A):c.592G>A (p.Val198Met)
|
|
|
NM_000429.3(MAT1A):c.626A>T (p.His209Leu)
|
rs1554840780
|
|
NM_000429.3(MAT1A):c.630C>T (p.Asn210=)
|
|
|
NM_000429.3(MAT1A):c.637A>G (p.Ile213Val)
|
|
|
NM_000429.3(MAT1A):c.646G>C (p.Glu216Gln)
|
rs1564646038
|
|
NM_000429.3(MAT1A):c.656G>T (p.Arg219Leu)
|
rs200894913
|
|
NM_000429.3(MAT1A):c.659G>A (p.Arg220Lys)
|
|
|
NM_000429.3(MAT1A):c.65C>T (p.Ser22Leu)
|
|
|
NM_000429.3(MAT1A):c.665T>G (p.Leu222Arg)
|
|
|
NM_000429.3(MAT1A):c.66G>C (p.Ser22=)
|
|
|
NM_000429.3(MAT1A):c.67G>C (p.Glu23Gln)
|
|
|
NM_000429.3(MAT1A):c.681C>G (p.Ile227Met)
|
rs1841486729
|
|
NM_000429.3(MAT1A):c.683G>A (p.Arg228Lys)
|
rs1346664920
|
|
NM_000429.3(MAT1A):c.697G>A (p.Ala233Thr)
|
|
|
NM_000429.3(MAT1A):c.701A>C (p.Lys234Thr)
|
|
|
NM_000429.3(MAT1A):c.705C>A (p.Tyr235Ter)
|
|
|
NM_000429.3(MAT1A):c.711C>T (p.Asp237=)
|
|
|
NM_000429.3(MAT1A):c.720C>T (p.Thr240=)
|
|
|
NM_000429.3(MAT1A):c.740G>A (p.Ser247Asn)
|
rs1131691739
|
|
NM_000429.3(MAT1A):c.741T>C (p.Ser247=)
|
rs2132702574
|
|
NM_000429.3(MAT1A):c.755T>C (p.Ile252Thr)
|
|
|
NM_000429.3(MAT1A):c.760G>A (p.Gly254Ser)
|
rs1841485508
|
|
NM_000429.3(MAT1A):c.768+10T>G
|
|
|
NM_000429.3(MAT1A):c.768+20C>T
|
|
|
NM_000429.3(MAT1A):c.768+2T>A
|
|
|
NM_000429.3(MAT1A):c.769-7T>C
|
|
|
NM_000429.3(MAT1A):c.769G>A (p.Gly257Arg)
|
|
|
NM_000429.3(MAT1A):c.771G>T (p.Gly257=)
|
rs778011816
|
|
NM_000429.3(MAT1A):c.772G>A (p.Asp258Asn)
|
rs1554840677
|
|
NM_000429.3(MAT1A):c.772G>T (p.Asp258Tyr)
|
rs1554840677
|
|
NM_000429.3(MAT1A):c.773A>T (p.Asp258Val)
|
rs1241692940
|
|
NM_000429.3(MAT1A):c.776C>T (p.Ala259Val)
|
rs138556525
|
|
NM_000429.3(MAT1A):c.790C>T (p.Arg264Cys)
|
rs118204005
|
|
NM_000429.3(MAT1A):c.791G>A (p.Arg264His)
|
rs72558181
|
|
NM_000429.3(MAT1A):c.79G>A (p.Glu27Lys)
|
|
|
NM_000429.3(MAT1A):c.812A>G (p.Tyr271Cys)
|
rs1841469345
|
|
NM_000429.3(MAT1A):c.822G>T (p.Trp274Cys)
|
rs1366915768
|
|
NM_000429.3(MAT1A):c.829C>T (p.His277Tyr)
|
|
|
NM_000429.3(MAT1A):c.839G>C (p.Gly280Ala)
|
rs1320353405
|
|
NM_000429.3(MAT1A):c.839G>T (p.Gly280Val)
|
|
|
NM_000429.3(MAT1A):c.841G>A (p.Ala281Thr)
|
|
|
NM_000429.3(MAT1A):c.852G>A (p.Gly284=)
|
|
|
NM_000429.3(MAT1A):c.866A>G (p.Lys289Arg)
|
|
|
NM_000429.3(MAT1A):c.867G>A (p.Lys289=)
|
|
|
NM_000429.3(MAT1A):c.868G>A (p.Val290Ile)
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NM_000429.3(MAT1A):c.874C>T (p.Arg292Cys)
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NM_000429.3(MAT1A):c.89C>T (p.Pro30Leu)
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NM_000429.3(MAT1A):c.91+10C>T
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NM_000429.3(MAT1A):c.91+11T>G
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NM_000429.3(MAT1A):c.918G>C (p.Val306=)
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NM_000429.3(MAT1A):c.92-18A>G
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NM_000429.3(MAT1A):c.92-2A>C
|
rs1841639385
|
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NM_000429.3(MAT1A):c.925G>C (p.Gly309Arg)
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NM_000429.3(MAT1A):c.926G>A (p.Gly309Glu)
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NM_000429.3(MAT1A):c.935G>A (p.Arg312Gln)
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NM_000429.3(MAT1A):c.948C>T (p.Val316=)
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NM_000429.3(MAT1A):c.951+15C>A
|
rs1191507523
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NM_000429.3(MAT1A):c.951+15C>G
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NM_000429.3(MAT1A):c.951+4A>G
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NM_000429.3(MAT1A):c.951+6C>A
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NM_000429.3(MAT1A):c.952-18G>A
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NM_000429.3(MAT1A):c.952-19C>T
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NM_000429.3(MAT1A):c.952-5G>A
|
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NM_000429.3(MAT1A):c.959A>C (p.Tyr320Ser)
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NM_000429.3(MAT1A):c.964A>G (p.Ile322Val)
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NM_000429.3(MAT1A):c.964A>T (p.Ile322Phe)
|
rs1057517759
|
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NM_000429.3(MAT1A):c.965T>C (p.Ile322Thr)
|
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NM_000429.3(MAT1A):c.968G>A (p.Gly323Asp)
|
rs775897759
|
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NM_000429.3(MAT1A):c.976G>A (p.Glu326Lys)
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NM_000429.3(MAT1A):c.983T>C (p.Leu328Pro)
|
rs1444823004
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NM_000429.3(MAT1A):c.98T>A (p.Ile33Asn)
|
rs1554841293
|
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