NM_144596.4(TTC8):c.*238G>A
|
rs1048190
|
0.20574
|
NM_144596.4(TTC8):c.1432-12T>C
|
rs79747892
|
0.03653
|
NM_144596.4(TTC8):c.*472A>C
|
rs59300815
|
0.03638
|
NM_144596.4(TTC8):c.*57C>T
|
rs74079414
|
0.01106
|
NM_144596.4(TTC8):c.*493T>C
|
rs60082659
|
0.01012
|
NM_144596.4(TTC8):c.625-5C>T
|
rs137853922
|
0.00807
|
NM_144596.4(TTC8):c.194A>G (p.Asp65Gly)
|
rs114557412
|
0.00354
|
NM_144596.4(TTC8):c.1401G>A (p.Pro467=)
|
rs114064158
|
0.00319
|
NM_144596.4(TTC8):c.-25G>A
|
rs7145692
|
0.00290
|
NM_144596.4(TTC8):c.284A>G (p.Lys95Arg)
|
rs150880478
|
0.00272
|
NM_144596.4(TTC8):c.*93G>A
|
rs116740320
|
0.00263
|
NM_144596.4(TTC8):c.299A>G (p.Asn100Ser)
|
rs139392523
|
0.00230
|
NM_144596.4(TTC8):c.1253A>G (p.Gln418Arg)
|
rs142938748
|
0.00227
|
NM_144596.4(TTC8):c.1077C>T (p.Asn359=)
|
rs150896551
|
0.00141
|
NM_144596.4(TTC8):c.1231G>A (p.Gly411Arg)
|
rs139773124
|
0.00071
|
NM_144596.4(TTC8):c.1327C>T (p.Arg443Trp)
|
rs140698625
|
0.00064
|
NM_144596.4(TTC8):c.*83A>G
|
rs147325843
|
0.00059
|
NM_144596.4(TTC8):c.330-15T>A
|
rs187484893
|
0.00059
|
NM_144596.4(TTC8):c.910-16T>G
|
rs199763558
|
0.00053
|
NM_144596.4(TTC8):c.669G>A (p.Lys223=)
|
rs141304350
|
0.00026
|
NM_144596.4(TTC8):c.*92C>T
|
rs148799039
|
0.00024
|
NM_144596.4(TTC8):c.909+18T>C
|
rs111707320
|
0.00024
|
NM_144596.4(TTC8):c.1262G>C (p.Arg421Thr)
|
rs374742528
|
0.00021
|
NM_144596.4(TTC8):c.1417A>G (p.Thr473Ala)
|
rs376411291
|
0.00021
|
NM_144596.4(TTC8):c.1463C>T (p.Ala488Val)
|
rs199649536
|
0.00016
|
NM_144596.4(TTC8):c.1063A>T (p.Met355Leu)
|
rs140163629
|
0.00012
|
NM_144596.4(TTC8):c.1051C>T (p.Arg351Trp)
|
rs755412340
|
0.00010
|
NM_144596.4(TTC8):c.433G>A (p.Ala145Thr)
|
rs540856754
|
0.00010
|
NM_144596.4(TTC8):c.484G>C (p.Gly162Arg)
|
rs753150258
|
0.00010
|
NM_144596.4(TTC8):c.1294G>A (p.Glu432Lys)
|
rs114401181
|
0.00009
|
NM_144596.4(TTC8):c.1432-16C>T
|
rs373971173
|
0.00009
|
NM_144596.4(TTC8):c.1347+18G>A
|
rs368504643
|
0.00008
|
NM_144596.4(TTC8):c.267C>A (p.Arg89=)
|
rs200113889
|
0.00008
|
NM_144596.4(TTC8):c.905A>G (p.Tyr302Cys)
|
rs370111364
|
0.00008
|
NM_144596.4(TTC8):c.308G>T (p.Gly103Val)
|
rs140710339
|
0.00007
|
NM_144596.4(TTC8):c.*247T>C
|
rs886050879
|
0.00006
|
NM_144596.4(TTC8):c.4A>G (p.Ser2Gly)
|
rs759112760
|
0.00006
|
NM_144596.4(TTC8):c.874G>A (p.Val292Ile)
|
rs375086490
|
0.00006
|
NM_144596.4(TTC8):c.913A>G (p.Met305Val)
|
rs143237548
|
0.00006
|
NM_144596.4(TTC8):c.1078G>A (p.Gly360Ser)
|
rs771231605
|
0.00005
|
NM_144596.4(TTC8):c.171G>A (p.Ala57=)
|
rs776886643
|
0.00005
|
NM_144596.4(TTC8):c.357T>C (p.Ile119=)
|
rs567203939
|
0.00005
|
NM_144596.4(TTC8):c.1052G>A (p.Arg351Gln)
|
rs779617849
|
0.00004
|
NM_144596.4(TTC8):c.114+6G>C
|
rs370326452
|
0.00004
|
NM_144596.4(TTC8):c.1431+12C>T
|
rs201053086
|
0.00004
|
NM_144596.4(TTC8):c.145-7G>A
|
rs368220069
|
0.00004
|
NM_144596.4(TTC8):c.489G>A (p.Thr163=)
|
rs119103286
|
0.00004
|
NM_144596.4(TTC8):c.800T>A (p.Val267Asp)
|
rs770333148
|
0.00004
|
NM_144596.4(TTC8):c.1040G>A (p.Arg347Gln)
|
rs1246614842
|
0.00003
|
NM_144596.4(TTC8):c.1328G>A (p.Arg443Gln)
|
rs746920262
|
0.00003
|
NM_144596.4(TTC8):c.1542G>A (p.Met514Ile)
|
rs571571526
|
0.00003
|
NM_144596.4(TTC8):c.401C>T (p.Thr134Ile)
|
rs982852104
|
0.00003
|
NM_144596.4(TTC8):c.54G>A (p.Arg18=)
|
rs745942356
|
0.00003
|
NM_144596.4(TTC8):c.980A>G (p.Glu327Gly)
|
rs749721461
|
0.00003
|
NM_144596.4(TTC8):c.1042T>C (p.Phe348Leu)
|
rs200086953
|
0.00002
|
NM_144596.4(TTC8):c.1347+6T>G
|
rs368072201
|
0.00002
|
NM_144596.4(TTC8):c.1382C>T (p.Ala461Val)
|
rs139195149
|
0.00002
|
NM_144596.4(TTC8):c.23T>A (p.Leu8Gln)
|
rs1277993132
|
0.00002
|
NM_144596.4(TTC8):c.322G>A (p.Ala108Thr)
|
rs1000702394
|
0.00002
|
NM_144596.4(TTC8):c.325G>A (p.Val109Ile)
|
rs150067562
|
0.00002
|
NM_144596.4(TTC8):c.372G>A (p.Arg124=)
|
rs762722585
|
0.00002
|
NM_144596.4(TTC8):c.432C>T (p.Thr144=)
|
rs748561167
|
0.00002
|
NM_144596.4(TTC8):c.43T>C (p.Phe15Leu)
|
rs1379428942
|
0.00002
|
NM_144596.4(TTC8):c.445C>T (p.Arg149Cys)
|
rs781214218
|
0.00002
|
NM_144596.4(TTC8):c.446G>A (p.Arg149His)
|
rs768271175
|
0.00002
|
NM_144596.4(TTC8):c.466G>A (p.Gly156Arg)
|
rs750521601
|
0.00002
|
NM_144596.4(TTC8):c.5G>A (p.Ser2Asn)
|
rs199571677
|
0.00002
|
NM_144596.4(TTC8):c.607G>A (p.Glu203Lys)
|
rs1018209116
|
0.00002
|
NM_144596.4(TTC8):c.625-12T>C
|
rs372412832
|
0.00002
|
NM_144596.4(TTC8):c.642C>G (p.Ala214=)
|
rs141305911
|
0.00002
|
NM_144596.4(TTC8):c.753C>T (p.Ala251=)
|
rs367897453
|
0.00002
|
NM_144596.4(TTC8):c.799-11C>T
|
rs768485587
|
0.00002
|
NM_144596.4(TTC8):c.855A>C (p.Leu285Phe)
|
rs774379732
|
0.00002
|
NM_144596.4(TTC8):c.988G>A (p.Ala330Thr)
|
rs568563702
|
0.00002
|
NM_144596.4(TTC8):c.103C>T (p.Pro35Ser)
|
rs762461640
|
0.00001
|
NM_144596.4(TTC8):c.1133T>C (p.Met378Thr)
|
rs1003053014
|
0.00001
|
NM_144596.4(TTC8):c.114+12C>A
|
rs372634452
|
0.00001
|
NM_144596.4(TTC8):c.1143C>T (p.Thr381=)
|
rs1427115411
|
0.00001
|
NM_144596.4(TTC8):c.1158C>T (p.Ala386=)
|
rs575960949
|
0.00001
|
NM_144596.4(TTC8):c.1171G>C (p.Glu391Gln)
|
rs1253282084
|
0.00001
|
NM_144596.4(TTC8):c.1215T>G (p.His405Gln)
|
rs753212470
|
0.00001
|
NM_144596.4(TTC8):c.1224+19A>G
|
rs1329774650
|
0.00001
|
NM_144596.4(TTC8):c.1257C>T (p.Cys419=)
|
rs1304915093
|
0.00001
|
NM_144596.4(TTC8):c.1277A>T (p.Asn426Ile)
|
rs575952395
|
0.00001
|
NM_144596.4(TTC8):c.1290C>T (p.His430=)
|
rs370238882
|
0.00001
|
NM_144596.4(TTC8):c.1293C>T (p.Ala431=)
|
rs757305114
|
0.00001
|
NM_144596.4(TTC8):c.1335C>T (p.Gly445=)
|
rs770430375
|
0.00001
|
NM_144596.4(TTC8):c.1347+17C>T
|
rs371494539
|
0.00001
|
NM_144596.4(TTC8):c.1352G>A (p.Arg451Lys)
|
rs772498950
|
0.00001
|
NM_144596.4(TTC8):c.1353G>A (p.Arg451=)
|
rs2094951123
|
0.00001
|
NM_144596.4(TTC8):c.1363C>A (p.Gln455Lys)
|
rs773278542
|
0.00001
|
NM_144596.4(TTC8):c.1402C>T (p.His468Tyr)
|
rs148602884
|
0.00001
|
NM_144596.4(TTC8):c.1420A>G (p.Ile474Val)
|
rs1244721977
|
0.00001
|
NM_144596.4(TTC8):c.1432-20T>C
|
rs767425214
|
0.00001
|
NM_144596.4(TTC8):c.145-10T>C
|
rs754997963
|
0.00001
|
NM_144596.4(TTC8):c.1544T>C (p.Leu515Pro)
|
rs2094961758
|
0.00001
|
NM_144596.4(TTC8):c.175A>G (p.Thr59Ala)
|
rs1335402056
|
0.00001
|
NM_144596.4(TTC8):c.22C>T (p.Leu8=)
|
rs139659023
|
0.00001
|
NM_144596.4(TTC8):c.265+1G>A
|
rs139234943
|
0.00001
|
NM_144596.4(TTC8):c.265C>T (p.Arg89Cys)
|
rs747646200
|
0.00001
|
NM_144596.4(TTC8):c.266-5C>G
|
rs982758929
|
0.00001
|
NM_144596.4(TTC8):c.275C>T (p.Thr92Met)
|
rs886050877
|
0.00001
|
NM_144596.4(TTC8):c.298A>G (p.Asn100Asp)
|
rs758294605
|
0.00001
|
NM_144596.4(TTC8):c.329+19T>C
|
rs1052249656
|
0.00001
|
NM_144596.4(TTC8):c.330-18A>C
|
rs750012179
|
0.00001
|
NM_144596.4(TTC8):c.355A>G (p.Ile119Val)
|
rs1188208020
|
0.00001
|
NM_144596.4(TTC8):c.361G>A (p.Gly121Ser)
|
rs771327965
|
0.00001
|
NM_144596.4(TTC8):c.386G>A (p.Ser129Asn)
|
rs761817038
|
0.00001
|
NM_144596.4(TTC8):c.399C>A (p.Gly133=)
|
rs766975286
|
0.00001
|
NM_144596.4(TTC8):c.415A>G (p.Ile139Val)
|
rs766062841
|
0.00001
|
NM_144596.4(TTC8):c.436T>C (p.Tyr146His)
|
rs747125124
|
0.00001
|
NM_144596.4(TTC8):c.452T>A (p.Ile151Asn)
|
rs774233751
|
0.00001
|
NM_144596.4(TTC8):c.462C>T (p.Ser154=)
|
rs766005336
|
0.00001
|
NM_144596.4(TTC8):c.465C>T (p.Ser155=)
|
rs1253468754
|
0.00001
|
NM_144596.4(TTC8):c.534T>C (p.Ser178=)
|
rs200318980
|
0.00001
|
NM_144596.4(TTC8):c.596T>A (p.Ile199Asn)
|
rs753995884
|
0.00001
|
NM_144596.4(TTC8):c.624+1G>A
|
rs587777808
|
0.00001
|
NM_144596.4(TTC8):c.631G>T (p.Asp211Tyr)
|
rs377540438
|
0.00001
|
NM_144596.4(TTC8):c.640G>A (p.Ala214Thr)
|
rs1295139564
|
0.00001
|
NM_144596.4(TTC8):c.711-16A>C
|
rs747396066
|
0.00001
|
NM_144596.4(TTC8):c.744T>G (p.Phe248Leu)
|
rs1411331497
|
0.00001
|
NM_144596.4(TTC8):c.84G>A (p.Thr28=)
|
rs1390636663
|
0.00001
|
NM_144596.4(TTC8):c.885C>T (p.Leu295=)
|
rs1052480994
|
0.00001
|
NM_144596.4(TTC8):c.909G>C (p.Glu303Asp)
|
rs1413362477
|
0.00001
|
NM_144596.4(TTC8):c.915del (p.Met305fs)
|
rs1431207606
|
0.00001
|
NM_144596.4(TTC8):c.950A>C (p.Glu317Ala)
|
rs1220094479
|
0.00001
|
NM_144596.4(TTC8):c.987C>T (p.Ile329=)
|
rs1024139303
|
0.00001
|
NC_000014.8:g.(?_89291052)_(89305916_?)dup
|
|
|
NC_000014.8:g.(?_89291052)_(89343754_?)dup
|
|
|
NC_000014.8:g.(?_89319295)_(89319420_?)del
|
|
|
NC_000014.8:g.(?_89319295)_(89323641_?)del
|
|
|
NC_000014.8:g.(?_89327546)_(89327696_?)del
|
|
|
NM_144596.4(TTC8):c.*17A>G
|
rs1164204068
|
|
NM_144596.4(TTC8):c.*377C>T
|
rs1395639006
|
|
NM_144596.4(TTC8):c.*418G>A
|
rs2094963356
|
|
NM_144596.4(TTC8):c.*45A>C
|
rs1273103151
|
|
NM_144596.4(TTC8):c.-38C>A
|
rs886050876
|
|
NM_144596.4(TTC8):c.-44C>T
|
rs571786285
|
|
NM_144596.4(TTC8):c.1021C>T (p.Gln341Ter)
|
rs2141033426
|
|
NM_144596.4(TTC8):c.1022A>G (p.Gln341Arg)
|
rs2094927980
|
|
NM_144596.4(TTC8):c.1026A>G (p.Pro342=)
|
|
|
NM_144596.4(TTC8):c.1029_1032dup (p.Ala345fs)
|
|
|
NM_144596.4(TTC8):c.1033G>A (p.Ala345Thr)
|
|
|
NM_144596.4(TTC8):c.1039C>T (p.Arg347Trp)
|
|
|
NM_144596.4(TTC8):c.1049+11C>T
|
rs762777832
|
|
NM_144596.4(TTC8):c.1049+2_1049+4del
|
rs587777807
|
|
NM_144596.4(TTC8):c.1049+7T>G
|
|
|
NM_144596.4(TTC8):c.104C>A (p.Pro35His)
|
rs2094691079
|
|
NM_144596.4(TTC8):c.1050-13C>G
|
|
|
NM_144596.4(TTC8):c.1050-20G>A
|
|
|
NM_144596.4(TTC8):c.1050G>T (p.Arg350Ser)
|
rs2094933981
|
|
NM_144596.4(TTC8):c.1069A>G (p.Ile357Val)
|
|
|
NM_144596.4(TTC8):c.106dup (p.Tyr36fs)
|
rs2094691095
|
|
NM_144596.4(TTC8):c.1071T>A (p.Ile357=)
|
|
|
NM_144596.4(TTC8):c.1073A>T (p.Tyr358Phe)
|
rs951491897
|
|
NM_144596.4(TTC8):c.1084C>G (p.Leu362Val)
|
rs2094934211
|
|
NM_144596.4(TTC8):c.1101G>C (p.Gly367=)
|
rs2141036668
|
|
NM_144596.4(TTC8):c.1102C>T (p.Leu368=)
|
|
|
NM_144596.4(TTC8):c.1118C>A (p.Ala373Asp)
|
rs768465465
|
|
NM_144596.4(TTC8):c.1124A>C (p.Gln375Pro)
|
rs774216735
|
|
NM_144596.4(TTC8):c.1125G>A (p.Gln375=)
|
rs2141036744
|
|
NM_144596.4(TTC8):c.112C>T (p.Gln38Ter)
|
|
|
NM_144596.4(TTC8):c.113A>G (p.Gln38Arg)
|
rs1224545398
|
|
NM_144596.4(TTC8):c.114+15C>G
|
|
|
NM_144596.4(TTC8):c.114+19C>T
|
|
|
NM_144596.4(TTC8):c.114+1G>T
|
|
|
NM_144596.4(TTC8):c.114+2T>C
|
rs1273244823
|
|
NM_144596.4(TTC8):c.114+5C>T
|
|
|
NM_144596.4(TTC8):c.114+7G>C
|
|
|
NM_144596.4(TTC8):c.1147T>C (p.Phe383Leu)
|
rs2094934479
|
|
NM_144596.4(TTC8):c.114G>T (p.Gln38His)
|
rs2094691170
|
|
NM_144596.4(TTC8):c.1154G>A (p.Arg385His)
|
|
|
NM_144596.4(TTC8):c.1185G>C (p.Glu395Asp)
|
rs1375783683
|
|
NM_144596.4(TTC8):c.1214A>G (p.His405Arg)
|
|
|
NM_144596.4(TTC8):c.1224+15T>C
|
rs777976437
|
|
NM_144596.4(TTC8):c.1224+15T>G
|
|
|
NM_144596.4(TTC8):c.1224+20T>C
|
|
|
NM_144596.4(TTC8):c.1224+8G>T
|
|
|
NM_144596.4(TTC8):c.1225-12T>C
|
|
|
NM_144596.4(TTC8):c.1225-18A>G
|
|
|
NM_144596.4(TTC8):c.1225-4G>T
|
rs2094937777
|
|
NM_144596.4(TTC8):c.1233A>T (p.Gly411=)
|
|
|
NM_144596.4(TTC8):c.1234G>T (p.Asp412Tyr)
|
|
|
NM_144596.4(TTC8):c.1237A>C (p.Thr413Pro)
|
|
|
NM_144596.4(TTC8):c.1276AAC[3] (p.Asn429del)
|
rs750442302
|
|
NM_144596.4(TTC8):c.1276AAC[5] (p.Asn429dup)
|
rs750442302
|
|
NM_144596.4(TTC8):c.1277A>G (p.Asn426Ser)
|
|
|
NM_144596.4(TTC8):c.1281C>T (p.Asn427=)
|
|
|
NM_144596.4(TTC8):c.1285A>C (p.Asn429His)
|
|
|
NM_144596.4(TTC8):c.1308C>T (p.Asn436=)
|
rs756352262
|
|
NM_144596.4(TTC8):c.1324A>G (p.Met442Val)
|
rs1259630992
|
|
NM_144596.4(TTC8):c.1327C>A (p.Arg443=)
|
rs140698625
|
|
NM_144596.4(TTC8):c.1340T>C (p.Val447Ala)
|
|
|
NM_144596.4(TTC8):c.1347+7G>C
|
rs774856265
|
|
NM_144596.4(TTC8):c.1356A>G (p.Ala452=)
|
rs2141044281
|
|
NM_144596.4(TTC8):c.1360T>G (p.Leu454Val)
|
|
|
NM_144596.4(TTC8):c.1363C>G (p.Gln455Glu)
|
rs773278542
|
|
NM_144596.4(TTC8):c.1385C>G (p.Pro462Arg)
|
rs2141044395
|
|
NM_144596.4(TTC8):c.1387del (p.His463fs)
|
rs2141044380
|
|
NM_144596.4(TTC8):c.1388A>T (p.His463Leu)
|
rs2141044398
|
|
NM_144596.4(TTC8):c.1394A>G (p.Tyr465Cys)
|
|
|
NM_144596.4(TTC8):c.1401G>T (p.Pro467=)
|
|
|
NM_144596.4(TTC8):c.1418C>T (p.Thr473Ile)
|
rs762313028
|
|
NM_144596.4(TTC8):c.1423T>A (p.Ser475Thr)
|
rs2141044512
|
|
NM_144596.4(TTC8):c.1424C>T (p.Ser475Phe)
|
|
|
NM_144596.4(TTC8):c.1431+10T>G
|
|
|
NM_144596.4(TTC8):c.1431+1G>T
|
rs779743153
|
|
NM_144596.4(TTC8):c.1431+20_1431+24del
|
|
|
NM_144596.4(TTC8):c.1431+3A>G
|
rs2094951653
|
|
NM_144596.4(TTC8):c.1431+8C>G
|
|
|
NM_144596.4(TTC8):c.1432A>T (p.Ile478Phe)
|
rs753441040
|
|
NM_144596.4(TTC8):c.1441C>A (p.Leu481Met)
|
|
|
NM_144596.4(TTC8):c.1449A>G (p.Arg483=)
|
|
|
NM_144596.4(TTC8):c.1452C>T (p.Ser484=)
|
rs1353769883
|
|
NM_144596.4(TTC8):c.1464G>A (p.Ala488=)
|
rs142073418
|
|
NM_144596.4(TTC8):c.1464G>C (p.Ala488=)
|
rs142073418
|
|
NM_144596.4(TTC8):c.1465C>T (p.Gln489Ter)
|
|
|
NM_144596.4(TTC8):c.1487C>T (p.Pro496Leu)
|
|
|
NM_144596.4(TTC8):c.1491C>T (p.Asp497=)
|
rs886050878
|
|
NM_144596.4(TTC8):c.1495G>A (p.Val499Met)
|
rs538188579
|
|
NM_144596.4(TTC8):c.1503A>G (p.Thr501=)
|
rs1754480274
|
|
NM_144596.4(TTC8):c.1530G>A (p.Gln510=)
|
|
|
NM_144596.4(TTC8):c.1542G>T (p.Met514Ile)
|
rs571571526
|
|
NM_144596.4(TTC8):c.156C>T (p.Ile52=)
|
rs2140973252
|
|
NM_144596.4(TTC8):c.163G>A (p.Ala55Thr)
|
|
|
NM_144596.4(TTC8):c.172C>A (p.Leu58Ile)
|
|
|
NM_144596.4(TTC8):c.174A>G (p.Leu58=)
|
|
|
NM_144596.4(TTC8):c.177A>G (p.Thr59=)
|
|
|
NM_144596.4(TTC8):c.183G>A (p.Met61Ile)
|
|
|
NM_144596.4(TTC8):c.192A>G (p.Ile64Met)
|
|
|
NM_144596.4(TTC8):c.193G>A (p.Asp65Asn)
|
rs2094769718
|
|
NM_144596.4(TTC8):c.1A>G (p.Met1Val)
|
rs747906724
|
|
NM_144596.4(TTC8):c.1A>T (p.Met1Leu)
|
|
|
NM_144596.4(TTC8):c.221T>C (p.Ile74Thr)
|
rs2094769961
|
|
NM_144596.4(TTC8):c.222T>C (p.Ile74=)
|
|
|
NM_144596.4(TTC8):c.224C>A (p.Ala75Glu)
|
|
|
NM_144596.4(TTC8):c.250A>G (p.Ile84Val)
|
|
|
NM_144596.4(TTC8):c.256C>T (p.Gln86Ter)
|
|
|
NM_144596.4(TTC8):c.265+19G>C
|
|
|
NM_144596.4(TTC8):c.265+1_265+2del
|
rs1595939517
|
|
NM_144596.4(TTC8):c.265+5G>A
|
rs2094770219
|
|
NM_144596.4(TTC8):c.265+8T>G
|
rs182898340
|
|
NM_144596.4(TTC8):c.266-10del
|
rs759785529
|
|
NM_144596.4(TTC8):c.266-2A>G
|
rs2140976096
|
|
NM_144596.4(TTC8):c.266-4C>A
|
|
|
NM_144596.4(TTC8):c.276G>A (p.Thr92=)
|
|
|
NM_144596.4(TTC8):c.293G>A (p.Gly98Glu)
|
rs1566836961
|
|
NM_144596.4(TTC8):c.293del (p.Gly98fs)
|
rs1271312946
|
|
NM_144596.4(TTC8):c.2T>C (p.Met1Thr)
|
rs776086794
|
|
NM_144596.4(TTC8):c.305C>T (p.Thr102Ile)
|
rs1341297017
|
|
NM_144596.4(TTC8):c.311G>A (p.Gly104Glu)
|
|
|
NM_144596.4(TTC8):c.313C>T (p.Pro105Ser)
|
rs2094777358
|
|
NM_144596.4(TTC8):c.324C>T (p.Ala108=)
|
rs571883979
|
|
NM_144596.4(TTC8):c.329+11C>G
|
|
|
NM_144596.4(TTC8):c.329+12T>C
|
rs2140976349
|
|
NM_144596.4(TTC8):c.329+18A>G
|
|
|
NM_144596.4(TTC8):c.329+4T>C
|
|
|
NM_144596.4(TTC8):c.332C>T (p.Pro111Leu)
|
rs2094778322
|
|
NM_144596.4(TTC8):c.336C>G (p.Ile112Met)
|
rs2140976682
|
|
NM_144596.4(TTC8):c.341A>G (p.Gln114Arg)
|
|
|
NM_144596.4(TTC8):c.34T>G (p.Trp12Gly)
|
rs2140944058
|
|
NM_144596.4(TTC8):c.354C>A (p.Pro118=)
|
rs2140976722
|
|
NM_144596.4(TTC8):c.366C>T (p.Phe122=)
|
|
|
NM_144596.4(TTC8):c.370A>G (p.Arg124Gly)
|
|
|
NM_144596.4(TTC8):c.375C>T (p.Pro125=)
|
|
|
NM_144596.4(TTC8):c.380C>A (p.Thr127Lys)
|
rs369803125
|
|
NM_144596.4(TTC8):c.380C>T (p.Thr127Met)
|
rs369803125
|
|
NM_144596.4(TTC8):c.381G>A (p.Thr127=)
|
|
|
NM_144596.4(TTC8):c.383A>C (p.Gln128Pro)
|
rs2140976838
|
|
NM_144596.4(TTC8):c.384G>C (p.Gln128His)
|
|
|
NM_144596.4(TTC8):c.390A>G (p.Gly130=)
|
|
|
NM_144596.4(TTC8):c.398G>A (p.Gly133Asp)
|
|
|
NM_144596.4(TTC8):c.410A>G (p.Gln137Arg)
|
rs1337021580
|
|
NM_144596.4(TTC8):c.415A>C (p.Ile139Leu)
|
rs766062841
|
|
NM_144596.4(TTC8):c.417C>G (p.Ile139Met)
|
rs2094779029
|
|
NM_144596.4(TTC8):c.418A>G (p.Arg140Gly)
|
rs2140976960
|
|
NM_144596.4(TTC8):c.422C>A (p.Thr141Lys)
|
|
|
NM_144596.4(TTC8):c.425C>T (p.Pro142Leu)
|
|
|
NM_144596.4(TTC8):c.429A>C (p.Arg143Ser)
|
rs1472731626
|
|
NM_144596.4(TTC8):c.430A>C (p.Thr144Pro)
|
|
|
NM_144596.4(TTC8):c.432C>A (p.Thr144=)
|
rs748561167
|
|
NM_144596.4(TTC8):c.438C>T (p.Tyr146=)
|
rs2140977060
|
|
NM_144596.4(TTC8):c.446G>T (p.Arg149Leu)
|
rs768271175
|
|
NM_144596.4(TTC8):c.465C>G (p.Ser155=)
|
|
|
NM_144596.4(TTC8):c.470G>C (p.Arg157Thr)
|
rs754686957
|
|
NM_144596.4(TTC8):c.477C>T (p.Val159=)
|
|
|
NM_144596.4(TTC8):c.488C>T (p.Thr163Met)
|
rs758942370
|
|
NM_144596.4(TTC8):c.490-9C>A
|
rs770386094
|
|
NM_144596.4(TTC8):c.490-9C>T
|
rs770386094
|
|
NM_144596.4(TTC8):c.490G>A (p.Ala164Thr)
|
rs184952059
|
|
NM_144596.4(TTC8):c.506G>A (p.Ser169Asn)
|
|
|
NM_144596.4(TTC8):c.507T>C (p.Ser169=)
|
|
|
NM_144596.4(TTC8):c.509C>T (p.Pro170Leu)
|
rs1006330985
|
|
NM_144596.4(TTC8):c.512A>G (p.Asp171Gly)
|
|
|
NM_144596.4(TTC8):c.514G>A (p.Gly172Arg)
|
|
|
NM_144596.4(TTC8):c.517C>T (p.Pro173Ser)
|
rs2140977797
|
|
NM_144596.4(TTC8):c.528T>C (p.Asn176=)
|
rs1555391010
|
|
NM_144596.4(TTC8):c.52A>C (p.Arg18=)
|
|
|
NM_144596.4(TTC8):c.531A>T (p.Leu177Phe)
|
|
|
NM_144596.4(TTC8):c.552G>A (p.Lys184=)
|
rs2094781397
|
|
NM_144596.4(TTC8):c.559C>T (p.Gln187Ter)
|
rs376035653
|
|
NM_144596.4(TTC8):c.572del (p.Leu191fs)
|
|
|
NM_144596.4(TTC8):c.573G>C (p.Leu191Phe)
|
|
|
NM_144596.4(TTC8):c.579+19T>G
|
|
|
NM_144596.4(TTC8):c.579+5G>A
|
rs2140977987
|
|
NM_144596.4(TTC8):c.579+7A>G
|
rs2140977991
|
|
NM_144596.4(TTC8):c.585G>A (p.Leu195=)
|
|
|
NM_144596.4(TTC8):c.589G>C (p.Glu197Gln)
|
|
|
NM_144596.4(TTC8):c.589_594del (p.Glu197_Tyr198del)
|
rs587777806
|
|
NM_144596.4(TTC8):c.5G>T (p.Ser2Ile)
|
|
|
NM_144596.4(TTC8):c.600dup (p.His201fs)
|
|
|
NM_144596.4(TTC8):c.602A>G (p.His201Arg)
|
rs1328638709
|
|
NM_144596.4(TTC8):c.616G>A (p.Val206Ile)
|
|
|
NM_144596.4(TTC8):c.616_618del (p.Val206del)
|
rs1411331191
|
|
NM_144596.4(TTC8):c.624+19C>G
|
|
|
NM_144596.4(TTC8):c.624+8T>C
|
rs2140982585
|
|
NM_144596.4(TTC8):c.625-20A>G
|
|
|
NM_144596.4(TTC8):c.62A>G (p.Gln21Arg)
|
rs2094690662
|
|
NM_144596.4(TTC8):c.62A>T (p.Gln21Leu)
|
rs2094690662
|
|
NM_144596.4(TTC8):c.630G>T (p.Leu210Phe)
|
rs2094839899
|
|
NM_144596.4(TTC8):c.659C>T (p.Ser220Phe)
|
rs2094840063
|
|
NM_144596.4(TTC8):c.662A>G (p.Gln221Arg)
|
|
|
NM_144596.4(TTC8):c.665A>G (p.Tyr222Cys)
|
rs1257221355
|
|
NM_144596.4(TTC8):c.674G>A (p.Trp225Ter)
|
rs2140999501
|
|
NM_144596.4(TTC8):c.676T>C (p.Trp226Arg)
|
rs2140999509
|
|
NM_144596.4(TTC8):c.677G>A (p.Trp226Ter)
|
|
|
NM_144596.4(TTC8):c.699del (p.Lys233fs)
|
|
|
NM_144596.4(TTC8):c.69C>T (p.Cys23=)
|
rs749406406
|
|
NM_144596.4(TTC8):c.69del (p.Cys23fs)
|
rs2094690718
|
|
NM_144596.4(TTC8):c.700T>A (p.Cys234Ser)
|
|
|
NM_144596.4(TTC8):c.701G>A (p.Cys234Tyr)
|
rs1595959305
|
|
NM_144596.4(TTC8):c.704A>G (p.Tyr235Cys)
|
rs1445461942
|
|
NM_144596.4(TTC8):c.710+1G>A
|
rs2140999630
|
|
NM_144596.4(TTC8):c.710+4A>C
|
rs1352481954
|
|
NM_144596.4(TTC8):c.711-13T>C
|
|
|
NM_144596.4(TTC8):c.714G>A (p.Leu238=)
|
rs1435283670
|
|
NM_144596.4(TTC8):c.715G>C (p.Gly239Arg)
|
rs374351698
|
|
NM_144596.4(TTC8):c.720G>A (p.Met240Ile)
|
rs1051402043
|
|
NM_144596.4(TTC8):c.725G>A (p.Arg242His)
|
|
|
NM_144596.4(TTC8):c.727G>A (p.Glu243Lys)
|
rs1419727328
|
|
NM_144596.4(TTC8):c.729A>G (p.Glu243=)
|
|
|
NM_144596.4(TTC8):c.738A>G (p.Lys246=)
|
|
|
NM_144596.4(TTC8):c.73G>T (p.Asp25Tyr)
|
rs772967779
|
|
NM_144596.4(TTC8):c.747del (p.Lys249fs)
|
|
|
NM_144596.4(TTC8):c.749C>T (p.Ser250Leu)
|
rs943156593
|
|
NM_144596.4(TTC8):c.758A>G (p.Lys253Arg)
|
|
|
NM_144596.4(TTC8):c.776A>T (p.Asp259Val)
|
rs2141007421
|
|
NM_144596.4(TTC8):c.777T>C (p.Asp259=)
|
rs1164321723
|
|
NM_144596.4(TTC8):c.784C>T (p.Leu262=)
|
|
|
NM_144596.4(TTC8):c.785T>C (p.Leu262Pro)
|
rs1459496188
|
|
NM_144596.4(TTC8):c.785T>G (p.Leu262Arg)
|
|
|
NM_144596.4(TTC8):c.786G>A (p.Leu262=)
|
rs2094861022
|
|
NM_144596.4(TTC8):c.789C>T (p.Tyr263=)
|
|
|
NM_144596.4(TTC8):c.798+256T>C
|
|
|
NM_144596.4(TTC8):c.799-10T>C
|
|
|
NM_144596.4(TTC8):c.799-1G>T
|
|
|
NM_144596.4(TTC8):c.799-20G>T
|
|
|
NM_144596.4(TTC8):c.799-2A>G
|
rs771218088
|
|
NM_144596.4(TTC8):c.79T>C (p.Cys27Arg)
|
rs2094690812
|
|
NM_144596.4(TTC8):c.810A>C (p.Ser270=)
|
|
|
NM_144596.4(TTC8):c.814G>A (p.Asp272Asn)
|
|
|
NM_144596.4(TTC8):c.816T>A (p.Asp272Glu)
|
|
|
NM_144596.4(TTC8):c.83C>A (p.Thr28Lys)
|
rs1169043172
|
|
NM_144596.4(TTC8):c.857A>G (p.Asp286Gly)
|
|
|
NM_144596.4(TTC8):c.864T>C (p.Phe288=)
|
|
|
NM_144596.4(TTC8):c.865C>T (p.Pro289Ser)
|
rs2141016153
|
|
NM_144596.4(TTC8):c.872A>G (p.Glu291Gly)
|
|
|
NM_144596.4(TTC8):c.878C>A (p.Thr293Asn)
|
rs1028407834
|
|
NM_144596.4(TTC8):c.882G>A (p.Leu294=)
|
|
|
NM_144596.4(TTC8):c.890G>A (p.Gly297Glu)
|
|
|
NM_144596.4(TTC8):c.8C>G (p.Ser3Trp)
|
rs752229926
|
|
NM_144596.4(TTC8):c.8C>T (p.Ser3Leu)
|
rs752229926
|
|
NM_144596.4(TTC8):c.901_905del (p.Arg300_Ile301insTer)
|
|
|
NM_144596.4(TTC8):c.903C>G (p.Ile301Met)
|
|
|
NM_144596.4(TTC8):c.903C>T (p.Ile301=)
|
rs2141016259
|
|
NM_144596.4(TTC8):c.909+10G>A
|
rs1566851784
|
|
NM_144596.4(TTC8):c.910-1G>A
|
rs2141033061
|
|
NM_144596.4(TTC8):c.910-6G>A
|
|
|
NM_144596.4(TTC8):c.923T>C (p.Met308Thr)
|
rs2094927396
|
|
NM_144596.4(TTC8):c.935C>A (p.Ala312Glu)
|
rs1010519307
|
|
NM_144596.4(TTC8):c.936del (p.Glu313fs)
|
|
|
NM_144596.4(TTC8):c.942T>C (p.Tyr314=)
|
rs1340345868
|
|
NM_144596.4(TTC8):c.943T>G (p.Tyr315Asp)
|
rs2094927520
|
|
NM_144596.4(TTC8):c.948A>G (p.Lys316=)
|
|
|
NM_144596.4(TTC8):c.949G>A (p.Glu317Lys)
|
|
|
NM_144596.4(TTC8):c.964G>A (p.Asp322Asn)
|
rs2094927630
|
|
NM_144596.4(TTC8):c.96G>A (p.Glu32=)
|
|
|
NM_144596.4(TTC8):c.976G>T (p.Val326Leu)
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NM_144596.4(TTC8):c.983C>T (p.Ala328Val)
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rs755533153
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NM_198309.3:c.(768+1_769-1)_(879+1_880-1)del
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