NM_022173.4(TIA1):c.953A>G (p.Gln318Arg)
|
rs115611153
|
0.00704
|
NM_022173.4(TIA1):c.947C>G (p.Ala316Gly)
|
rs116828570
|
0.00661
|
NM_022173.4(TIA1):c.1086G>A (p.Pro362=)
|
rs72902461
|
0.00650
|
NM_022173.4(TIA1):c.1070A>G (p.Asn357Ser)
|
rs116621885
|
0.00569
|
NM_022173.4(TIA1):c.924G>A (p.Gln308=)
|
rs79075815
|
0.00380
|
NM_022173.4(TIA1):c.1122G>A (p.Gln374=)
|
rs76710635
|
0.00347
|
NM_022173.4(TIA1):c.978T>C (p.Gly326=)
|
rs78236170
|
0.00319
|
NM_022173.4(TIA1):c.679+18G>T
|
rs373922488
|
0.00085
|
NM_022173.4(TIA1):c.27-14T>G
|
rs374792026
|
0.00031
|
NM_022173.4(TIA1):c.48A>G (p.Arg16=)
|
rs115062005
|
0.00016
|
NM_022173.4(TIA1):c.398+10A>G
|
rs372161184
|
0.00014
|
NM_022173.4(TIA1):c.475-3C>T
|
rs200499196
|
0.00014
|
NM_022173.4(TIA1):c.880G>A (p.Val294Met)
|
rs144296151
|
0.00014
|
NM_022173.4(TIA1):c.1078G>A (p.Val360Met)
|
rs201905164
|
0.00013
|
NM_022173.4(TIA1):c.187T>C (p.Leu63=)
|
rs374166300
|
0.00011
|
NM_022173.4(TIA1):c.75A>G (p.Gln25=)
|
rs114952383
|
0.00011
|
NM_022173.4(TIA1):c.154G>A (p.Glu52Lys)
|
rs183810707
|
0.00009
|
NM_022173.4(TIA1):c.170G>A (p.Arg57His)
|
rs778629190
|
0.00009
|
NM_022173.4(TIA1):c.918T>C (p.Tyr306=)
|
rs373992720
|
0.00009
|
NM_022173.4(TIA1):c.283A>T (p.Thr95Ser)
|
rs767534980
|
0.00008
|
NM_022173.4(TIA1):c.738T>C (p.Phe246=)
|
rs567115305
|
0.00008
|
NM_022173.4(TIA1):c.1035-7C>T
|
rs202093855
|
0.00007
|
NM_022173.4(TIA1):c.33C>T (p.Val11=)
|
rs761527779
|
0.00006
|
NM_022173.4(TIA1):c.42T>C (p.Leu14=)
|
rs139181563
|
0.00006
|
NM_022173.4(TIA1):c.561C>T (p.Pro187=)
|
rs533863358
|
0.00006
|
NM_022173.4(TIA1):c.1006G>A (p.Gly336Ser)
|
rs200963371
|
0.00004
|
NM_022173.4(TIA1):c.223-3T>A
|
rs750261656
|
0.00004
|
NM_022173.4(TIA1):c.277+3_277+5dup
|
rs1266600719
|
0.00004
|
NM_022173.4(TIA1):c.339C>T (p.Leu113=)
|
rs1310209475
|
0.00004
|
NM_022173.4(TIA1):c.405C>A (p.Ala135=)
|
rs758482149
|
0.00004
|
NM_022173.4(TIA1):c.691C>A (p.Arg231Ser)
|
rs752346516
|
0.00004
|
NM_022173.4(TIA1):c.869T>C (p.Met290Thr)
|
rs116707801
|
0.00004
|
NM_022173.4(TIA1):c.93A>G (p.Gly31=)
|
rs560119254
|
0.00004
|
NM_022173.4(TIA1):c.1035-14A>G
|
rs372228986
|
0.00003
|
NM_022173.4(TIA1):c.1141G>A (p.Ala381Thr)
|
rs768554955
|
0.00003
|
NM_022173.4(TIA1):c.770A>T (p.Asn257Ile)
|
rs765028674
|
0.00003
|
NM_022173.4(TIA1):c.1034+20T>C
|
rs754029121
|
0.00002
|
NM_022173.4(TIA1):c.1085C>T (p.Pro362Leu)
|
rs757332023
|
0.00002
|
NM_022173.4(TIA1):c.1101T>C (p.Asn367=)
|
rs200990761
|
0.00002
|
NM_022173.4(TIA1):c.1150G>A (p.Glu384Lys)
|
rs747068278
|
0.00002
|
NM_022173.4(TIA1):c.1157A>C (p.Gln386Pro)
|
rs199700349
|
0.00002
|
NM_022173.4(TIA1):c.277+7A>G
|
rs750466101
|
0.00002
|
NM_022173.4(TIA1):c.310+19A>G
|
rs1175481114
|
0.00002
|
NM_022173.4(TIA1):c.475-8C>T
|
rs762783979
|
0.00002
|
NM_022173.4(TIA1):c.1032T>C (p.Phe344=)
|
rs1014286030
|
0.00001
|
NM_022173.4(TIA1):c.1035-20T>G
|
rs1264961449
|
0.00001
|
NM_022173.4(TIA1):c.1096C>T (p.Gln366Ter)
|
rs935618716
|
0.00001
|
NM_022173.4(TIA1):c.1108A>G (p.Met370Val)
|
rs752969561
|
0.00001
|
NM_022173.4(TIA1):c.1146G>T (p.Gly382=)
|
rs746021823
|
0.00001
|
NM_022173.4(TIA1):c.143A>G (p.Tyr48Cys)
|
rs370430518
|
0.00001
|
NM_022173.4(TIA1):c.30C>T (p.Tyr10=)
|
rs532963050
|
0.00001
|
NM_022173.4(TIA1):c.310+12T>C
|
rs769464163
|
0.00001
|
NM_022173.4(TIA1):c.321T>C (p.His107=)
|
rs759209695
|
0.00001
|
NM_022173.4(TIA1):c.398C>T (p.Ser133Leu)
|
rs375191972
|
0.00001
|
NM_022173.4(TIA1):c.41T>G (p.Leu14Arg)
|
rs1688810005
|
0.00001
|
NM_022173.4(TIA1):c.474+10G>T
|
rs760401337
|
0.00001
|
NM_022173.4(TIA1):c.615T>G (p.Val205=)
|
rs774396205
|
0.00001
|
NM_022173.4(TIA1):c.683A>T (p.Gln228Leu)
|
rs763253859
|
0.00001
|
NM_022173.4(TIA1):c.692G>A (p.Arg231His)
|
rs1379346485
|
0.00001
|
NM_022173.4(TIA1):c.764+10G>A
|
rs547201931
|
0.00001
|
NM_022173.4(TIA1):c.928G>A (p.Gly310Ser)
|
rs774668067
|
0.00001
|
NM_022173.4(TIA1):c.971C>G (p.Pro324Arg)
|
rs767406040
|
0.00001
|
NM_022173.4(TIA1):c.985G>A (p.Val329Ile)
|
rs780894412
|
0.00001
|
NC_000002.11:g.(?_70439851)_(70458006_?)dup
|
|
|
NC_000002.11:g.(?_70439851)_(70475562_?)dup
|
|
|
NC_000002.12:g.(?_70212709)_(70248440_?)del
|
|
|
NM_022173.4(TIA1):c.1002G>A (p.Met334Ile)
|
|
|
NM_022173.4(TIA1):c.1035-13C>T
|
|
|
NM_022173.4(TIA1):c.1035-6C>A
|
rs1262396095
|
|
NM_022173.4(TIA1):c.1035-8T>C
|
|
|
NM_022173.4(TIA1):c.1035-9C>G
|
|
|
NM_022173.4(TIA1):c.1038G>C (p.Gln346His)
|
|
|
NM_022173.4(TIA1):c.1059G>T (p.Trp353Cys)
|
rs1676840992
|
|
NM_022173.4(TIA1):c.1072T>G (p.Tyr358Asp)
|
|
|
NM_022173.4(TIA1):c.1082A>C (p.Gln361Pro)
|
rs556545503
|
|
NM_022173.4(TIA1):c.1100dup (p.Asn367fs)
|
|
|
NM_022173.4(TIA1):c.1117A>G (p.Asn373Asp)
|
rs1251696640
|
|
NM_022173.4(TIA1):c.1118A>G (p.Asn373Ser)
|
rs1573120141
|
|
NM_022173.4(TIA1):c.1156del (p.Gln386fs)
|
rs1553422555
|
|
NM_022173.4(TIA1):c.123+15C>G
|
|
|
NM_022173.4(TIA1):c.123+7G>A
|
rs1285035427
|
|
NM_022173.4(TIA1):c.124-14T>G
|
|
|
NM_022173.4(TIA1):c.124-1G>A
|
|
|
NM_022173.4(TIA1):c.125C>T (p.Thr42Ile)
|
|
|
NM_022173.4(TIA1):c.155A>C (p.Glu52Ala)
|
rs2104451000
|
|
NM_022173.4(TIA1):c.159T>C (p.Phe53=)
|
|
|
NM_022173.4(TIA1):c.159T>G (p.Phe53Leu)
|
|
|
NM_022173.4(TIA1):c.167A>G (p.His56Arg)
|
rs1352651621
|
|
NM_022173.4(TIA1):c.172C>A (p.His58Asn)
|
rs1422884714
|
|
NM_022173.4(TIA1):c.183_194del (p.Ala62_Ala65del)
|
|
|
NM_022173.4(TIA1):c.184G>A (p.Ala62Thr)
|
|
|
NM_022173.4(TIA1):c.188T>C (p.Leu63Ser)
|
rs2104450188
|
|
NM_022173.4(TIA1):c.205C>A (p.Arg69=)
|
rs568284639
|
|
NM_022173.4(TIA1):c.207G>A (p.Arg69=)
|
rs2104449868
|
|
NM_022173.4(TIA1):c.209A>T (p.Lys70Met)
|
rs1685916767
|
|
NM_022173.4(TIA1):c.222+11G>A
|
|
|
NM_022173.4(TIA1):c.223-14T>A
|
|
|
NM_022173.4(TIA1):c.223-15A>T
|
|
|
NM_022173.4(TIA1):c.223-16A>C
|
|
|
NM_022173.4(TIA1):c.223-3del
|
rs750862626
|
|
NM_022173.4(TIA1):c.223-3dup
|
rs750862626
|
|
NM_022173.4(TIA1):c.223-4T>G
|
|
|
NM_022173.4(TIA1):c.223-5_223-3del
|
|
|
NM_022173.4(TIA1):c.223-6_223-3del
|
|
|
NM_022173.4(TIA1):c.228C>G (p.Val76=)
|
rs1350429063
|
|
NM_022173.4(TIA1):c.237T>C (p.Asn79=)
|
rs2104412830
|
|
NM_022173.4(TIA1):c.26+17G>A
|
|
|
NM_022173.4(TIA1):c.26+7C>G
|
rs1230596375
|
|
NM_022173.4(TIA1):c.264G>A (p.Lys88=)
|
|
|
NM_022173.4(TIA1):c.27-11T>C
|
|
|
NM_022173.4(TIA1):c.27-13C>G
|
rs1688823152
|
|
NM_022173.4(TIA1):c.27-13C>T
|
|
|
NM_022173.4(TIA1):c.27-6T>A
|
rs1573660635
|
|
NM_022173.4(TIA1):c.272C>G (p.Thr91Arg)
|
|
|
NM_022173.4(TIA1):c.277+12T>A
|
rs2104411614
|
|
NM_022173.4(TIA1):c.277+15T>C
|
|
|
NM_022173.4(TIA1):c.277+6T>G
|
rs1685072494
|
|
NM_022173.4(TIA1):c.277+9A>G
|
|
|
NM_022173.4(TIA1):c.278-17C>G
|
rs2104408170
|
|
NM_022173.4(TIA1):c.301C>A (p.Arg101Ser)
|
|
|
NM_022173.4(TIA1):c.302G>A (p.Arg101His)
|
|
|
NM_022173.4(TIA1):c.310+14_310+16del
|
|
|
NM_022173.4(TIA1):c.311-20C>T
|
|
|
NM_022173.4(TIA1):c.311A>T (p.Asp104Val)
|
rs143209672
|
|
NM_022173.4(TIA1):c.313C>T (p.His105Tyr)
|
|
|
NM_022173.4(TIA1):c.31G>A (p.Val11Ile)
|
|
|
NM_022173.4(TIA1):c.324C>T (p.Val108=)
|
|
|
NM_022173.4(TIA1):c.328G>A (p.Val110Ile)
|
rs776157438
|
|
NM_022173.4(TIA1):c.362A>G (p.Asp121Gly)
|
|
|
NM_022173.4(TIA1):c.378T>C (p.Phe126=)
|
|
|
NM_022173.4(TIA1):c.380C>T (p.Ala127Val)
|
rs1558837955
|
|
NM_022173.4(TIA1):c.384A>G (p.Pro128=)
|
|
|
NM_022173.4(TIA1):c.397T>C (p.Ser133Pro)
|
|
|
NM_022173.4(TIA1):c.398+11_398+12del
|
rs774191937
|
|
NM_022173.4(TIA1):c.398+3A>G
|
rs1157656176
|
|
NM_022173.4(TIA1):c.399-14G>T
|
|
|
NM_022173.4(TIA1):c.399-19T>G
|
|
|
NM_022173.4(TIA1):c.3G>A (p.Met1Ile)
|
|
|
NM_022173.4(TIA1):c.406C>T (p.Arg136Ter)
|
|
|
NM_022173.4(TIA1):c.422T>C (p.Met141Thr)
|
rs1558817897
|
|
NM_022173.4(TIA1):c.432A>G (p.Gly144=)
|
rs2104293004
|
|
NM_022173.4(TIA1):c.434A>C (p.Lys145Thr)
|
rs2104292945
|
|
NM_022173.4(TIA1):c.447T>C (p.Tyr149=)
|
|
|
NM_022173.4(TIA1):c.450C>T (p.Gly150=)
|
|
|
NM_022173.4(TIA1):c.456C>T (p.Val152=)
|
|
|
NM_022173.4(TIA1):c.45C>T (p.Ser15=)
|
|
|
NM_022173.4(TIA1):c.467A>C (p.Asn156Thr)
|
rs2104292077
|
|
NM_022173.4(TIA1):c.474+11T>C
|
|
|
NM_022173.4(TIA1):c.474+15_474+17dup
|
rs769573516
|
|
NM_022173.4(TIA1):c.475-11G>T
|
|
|
NM_022173.4(TIA1):c.475-12_475-10del
|
rs2103955728
|
|
NM_022173.4(TIA1):c.480T>C (p.Ala160=)
|
rs2103955179
|
|
NM_022173.4(TIA1):c.486C>T (p.Asn162=)
|
|
|
NM_022173.4(TIA1):c.504T>C (p.Gly168=)
|
rs768840712
|
|
NM_022173.4(TIA1):c.507C>T (p.Gly169=)
|
rs2103954591
|
|
NM_022173.4(TIA1):c.538_541del (p.Asn180fs)
|
rs2103953996
|
|
NM_022173.4(TIA1):c.540C>T (p.Asn180=)
|
rs2103954084
|
|
NM_022173.4(TIA1):c.557C>A (p.Pro186His)
|
rs2103953680
|
|
NM_022173.4(TIA1):c.562G>T (p.Ala188Ser)
|
rs756853891
|
|
NM_022173.4(TIA1):c.572G>T (p.Ser191Ile)
|
|
|
NM_022173.4(TIA1):c.583+1G>A
|
rs2103953108
|
|
NM_022173.4(TIA1):c.584-14T>A
|
|
|
NM_022173.4(TIA1):c.584-20_584-19del
|
|
|
NM_022173.4(TIA1):c.584-5A>C
|
rs2103942498
|
|
NM_022173.4(TIA1):c.597G>C (p.Gln199His)
|
rs202123982
|
|
NM_022173.4(TIA1):c.603A>G (p.Ser201=)
|
rs2103941719
|
|
NM_022173.4(TIA1):c.634A>G (p.Ser212Gly)
|
|
|
NM_022173.4(TIA1):c.645T>G (p.Thr215=)
|
rs2103940711
|
|
NM_022173.4(TIA1):c.652T>C (p.Cys218Arg)
|
|
|
NM_022173.4(TIA1):c.679+16C>G
|
rs1678655363
|
|
NM_022173.4(TIA1):c.679+7del
|
rs757725649
|
|
NM_022173.4(TIA1):c.680-15dup
|
rs778392214
|
|
NM_022173.4(TIA1):c.680-16G>T
|
|
|
NM_022173.4(TIA1):c.680-22_680-19del
|
|
|
NM_022173.4(TIA1):c.680-5A>G
|
|
|
NM_022173.4(TIA1):c.680-7C>G
|
|
|
NM_022173.4(TIA1):c.689T>C (p.Met230Thr)
|
rs1678600341
|
|
NM_022173.4(TIA1):c.690G>A (p.Met230Ile)
|
|
|
NM_022173.4(TIA1):c.70C>G (p.Leu24Val)
|
rs1254426258
|
|
NM_022173.4(TIA1):c.737T>A (p.Phe246Tyr)
|
|
|
NM_022173.4(TIA1):c.747A>G (p.Lys249=)
|
|
|
NM_022173.4(TIA1):c.758T>G (p.Phe253Cys)
|
|
|
NM_022173.4(TIA1):c.759T>C (p.Phe253=)
|
|
|
NM_022173.4(TIA1):c.764+10G>T
|
|
|
NM_022173.4(TIA1):c.764+16_764+17insTGGTTTTTTTTTTTTTTTTTTNNNNNNNNNNNCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC
|
|
|
NM_022173.4(TIA1):c.765-14A>G
|
|
|
NM_022173.4(TIA1):c.787G>T (p.Ala263Ser)
|
rs2103907507
|
|
NM_022173.4(TIA1):c.796A>G (p.Ile266Val)
|
|
|
NM_022173.4(TIA1):c.7G>A (p.Asp3Asn)
|
|
|
NM_022173.4(TIA1):c.802T>A (p.Ser268Thr)
|
rs2103907183
|
|
NM_022173.4(TIA1):c.805G>A (p.Val269Ile)
|
rs1678158814
|
|
NM_022173.4(TIA1):c.820A>T (p.Ile274Phe)
|
rs539059746
|
|
NM_022173.4(TIA1):c.843C>T (p.Cys281=)
|
|
|
NM_022173.4(TIA1):c.846T>C (p.Tyr282=)
|
rs1558756592
|
|
NM_022173.4(TIA1):c.850G>C (p.Gly284Arg)
|
|
|
NM_022173.4(TIA1):c.852C>G (p.Gly284=)
|
|
|
NM_022173.4(TIA1):c.880G>C (p.Val294Leu)
|
|
|
NM_022173.4(TIA1):c.880G>T (p.Val294Leu)
|
|
|
NM_022173.4(TIA1):c.889-15A>G
|
|
|
NM_022173.4(TIA1):c.889-17T>C
|
|
|
NM_022173.4(TIA1):c.889C>G (p.Gln297Glu)
|
|
|
NM_022173.4(TIA1):c.902G>T (p.Gly301Val)
|
|
|
NM_022173.4(TIA1):c.913C>T (p.Pro305Ser)
|
rs2103876011
|
|
NM_022173.4(TIA1):c.914C>G (p.Pro305Arg)
|
|
|
NM_022173.4(TIA1):c.936G>T (p.Trp312Cys)
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NM_022173.4(TIA1):c.938A>G (p.Tyr313Cys)
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NM_022173.4(TIA1):c.951A>G (p.Gln317=)
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rs1236324874
|
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NM_022173.4(TIA1):c.970C>T (p.Pro324Ser)
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|
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NM_022173.4(TIA1):c.978T>A (p.Gly326=)
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NM_022173.4(TIA1):c.985G>T (p.Val329Phe)
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NM_022173.4(TIA1):c.98G>T (p.Cys33Phe)
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rs1360797921
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NM_022173.4(TIA1):c.992C>T (p.Ala331Val)
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rs1677653225
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