NM_021930.6(RINT1):c.388G>A (p.Ala130Thr)
|
rs138345617
|
0.00060
|
NM_021930.6(RINT1):c.766C>G (p.Arg256Gly)
|
rs144994876
|
0.00030
|
NM_021930.6(RINT1):c.782C>T (p.Pro261Leu)
|
rs199535472
|
0.00026
|
NM_021930.6(RINT1):c.430G>A (p.Asp144Asn)
|
rs139214585
|
0.00020
|
NM_021930.6(RINT1):c.376C>T (p.His126Tyr)
|
rs145688388
|
0.00018
|
NM_021930.6(RINT1):c.41C>T (p.Pro14Leu)
|
rs201898612
|
0.00016
|
NM_021930.6(RINT1):c.1756T>G (p.Ser586Ala)
|
rs552354215
|
0.00014
|
NM_021930.6(RINT1):c.767G>A (p.Arg256Gln)
|
rs199512216
|
0.00013
|
NM_021930.6(RINT1):c.1696G>A (p.Ala566Thr)
|
rs371226458
|
0.00012
|
NM_021930.6(RINT1):c.1317G>C (p.Leu439Phe)
|
rs150180546
|
0.00010
|
NM_021930.6(RINT1):c.1256C>G (p.Pro419Arg)
|
rs374836052
|
0.00008
|
NM_021930.6(RINT1):c.1840G>A (p.Val614Ile)
|
rs201581045
|
0.00006
|
NM_021930.6(RINT1):c.769C>G (p.Pro257Ala)
|
rs370242278
|
0.00006
|
NM_021930.6(RINT1):c.840-12T>A
|
rs747803201
|
0.00006
|
NM_021930.6(RINT1):c.1333+1G>A
|
rs375350359
|
0.00005
|
NM_021930.6(RINT1):c.1519G>A (p.Glu507Lys)
|
rs143184349
|
0.00005
|
NM_021930.6(RINT1):c.871C>T (p.Pro291Ser)
|
rs769020544
|
0.00005
|
NM_021930.6(RINT1):c.1004G>T (p.Trp335Leu)
|
rs151337665
|
0.00004
|
NM_021930.6(RINT1):c.1262C>G (p.Thr421Ser)
|
rs570663343
|
0.00004
|
NM_021930.6(RINT1):c.1321G>A (p.Val441Met)
|
rs769583673
|
0.00004
|
NM_021930.6(RINT1):c.1357A>G (p.Met453Val)
|
rs1184845991
|
0.00004
|
NM_021930.6(RINT1):c.1555C>T (p.Arg519Ter)
|
rs759853907
|
0.00004
|
NM_021930.6(RINT1):c.790T>C (p.Tyr264His)
|
rs148785160
|
0.00004
|
NM_021930.6(RINT1):c.840-3C>G
|
rs368353016
|
0.00004
|
NM_021930.6(RINT1):c.1130T>C (p.Met377Thr)
|
rs751612473
|
0.00003
|
NM_021930.6(RINT1):c.1270A>T (p.Ser424Cys)
|
rs537650844
|
0.00003
|
NM_021930.6(RINT1):c.1433G>T (p.Cys478Phe)
|
rs377454711
|
0.00003
|
NM_021930.6(RINT1):c.1603C>T (p.Arg535Ter)
|
rs764298491
|
0.00003
|
NM_021930.6(RINT1):c.319T>G (p.Leu107Val)
|
rs761546100
|
0.00003
|
NM_021930.6(RINT1):c.409A>C (p.Thr137Pro)
|
rs775839295
|
0.00003
|
NM_021930.6(RINT1):c.448A>C (p.Ser150Arg)
|
rs780699445
|
0.00003
|
NM_021930.6(RINT1):c.470G>A (p.Arg157His)
|
rs780455196
|
0.00003
|
NM_021930.6(RINT1):c.501A>T (p.Gln167His)
|
rs144996870
|
0.00003
|
NM_021930.6(RINT1):c.516-3C>T
|
rs371696665
|
0.00003
|
NM_021930.6(RINT1):c.628C>G (p.Leu210Val)
|
rs1393602613
|
0.00003
|
NM_021930.6(RINT1):c.814T>C (p.Cys272Arg)
|
rs761066440
|
0.00003
|
NM_021930.6(RINT1):c.866A>C (p.Gln289Pro)
|
rs747465384
|
0.00003
|
NM_021930.6(RINT1):c.974G>A (p.Arg325Gln)
|
rs998778572
|
0.00003
|
NM_021930.6(RINT1):c.1121G>A (p.Arg374Gln)
|
rs764911768
|
0.00002
|
NM_021930.6(RINT1):c.1187A>G (p.Asn396Ser)
|
rs202189669
|
0.00002
|
NM_021930.6(RINT1):c.1213G>A (p.Val405Ile)
|
rs768687841
|
0.00002
|
NM_021930.6(RINT1):c.126A>C (p.Gln42His)
|
rs767609311
|
0.00002
|
NM_021930.6(RINT1):c.1319C>T (p.Thr440Met)
|
rs748023287
|
0.00002
|
NM_021930.6(RINT1):c.157C>T (p.Pro53Ser)
|
rs1255155502
|
0.00002
|
NM_021930.6(RINT1):c.1683A>G (p.Gln561=)
|
rs776730982
|
0.00002
|
NM_021930.6(RINT1):c.178A>G (p.Ile60Val)
|
rs745420669
|
0.00002
|
NM_021930.6(RINT1):c.1847G>A (p.Arg616Lys)
|
rs1179738688
|
0.00002
|
NM_021930.6(RINT1):c.469C>T (p.Arg157Cys)
|
rs923333938
|
0.00002
|
NM_021930.6(RINT1):c.595A>G (p.Ile199Val)
|
rs552778762
|
0.00002
|
NM_021930.6(RINT1):c.63C>G (p.Asp21Glu)
|
rs779952771
|
0.00002
|
NM_021930.6(RINT1):c.673A>G (p.Lys225Glu)
|
rs775238670
|
0.00002
|
NM_021930.6(RINT1):c.734C>T (p.Ala245Val)
|
rs767925162
|
0.00002
|
NM_021930.6(RINT1):c.945G>C (p.Lys315Asn)
|
rs767554092
|
0.00002
|
NM_021930.6(RINT1):c.1015C>G (p.Gln339Glu)
|
rs199752527
|
0.00001
|
NM_021930.6(RINT1):c.1055A>G (p.Asp352Gly)
|
rs145829580
|
0.00001
|
NM_021930.6(RINT1):c.1084G>A (p.Val362Ile)
|
rs1586240760
|
0.00001
|
NM_021930.6(RINT1):c.1088G>A (p.Gly363Asp)
|
rs146567094
|
0.00001
|
NM_021930.6(RINT1):c.1102G>A (p.Ala368Thr)
|
rs545894353
|
0.00001
|
NM_021930.6(RINT1):c.1108-9T>G
|
rs1000460642
|
0.00001
|
NM_021930.6(RINT1):c.1120C>T (p.Arg374Trp)
|
rs1269514574
|
0.00001
|
NM_021930.6(RINT1):c.1124G>C (p.Gly375Ala)
|
rs757929342
|
0.00001
|
NM_021930.6(RINT1):c.1133T>C (p.Met378Thr)
|
rs1172759384
|
0.00001
|
NM_021930.6(RINT1):c.1135C>G (p.Leu379Val)
|
rs1423907177
|
0.00001
|
NM_021930.6(RINT1):c.113T>C (p.Ile38Thr)
|
rs775736541
|
0.00001
|
NM_021930.6(RINT1):c.1163T>C (p.Ile388Thr)
|
rs749707534
|
0.00001
|
NM_021930.6(RINT1):c.1216C>A (p.Leu406Ile)
|
rs761628779
|
0.00001
|
NM_021930.6(RINT1):c.1265T>C (p.Phe422Ser)
|
rs367670078
|
0.00001
|
NM_021930.6(RINT1):c.1276A>G (p.Met426Val)
|
rs755160836
|
0.00001
|
NM_021930.6(RINT1):c.1283T>G (p.Ile428Ser)
|
rs757717335
|
0.00001
|
NM_021930.6(RINT1):c.1285C>A (p.Leu429Ile)
|
rs1790880304
|
0.00001
|
NM_021930.6(RINT1):c.1300T>C (p.Cys434Arg)
|
rs1358061744
|
0.00001
|
NM_021930.6(RINT1):c.1310G>A (p.Arg437Lys)
|
rs758182035
|
0.00001
|
NM_021930.6(RINT1):c.1335T>C (p.Phe445=)
|
rs770595233
|
0.00001
|
NM_021930.6(RINT1):c.1337C>G (p.Ala446Gly)
|
rs1013448398
|
0.00001
|
NM_021930.6(RINT1):c.1339C>G (p.Leu447Val)
|
rs1562851056
|
0.00001
|
NM_021930.6(RINT1):c.1348A>G (p.Met450Val)
|
rs774078533
|
0.00001
|
NM_021930.6(RINT1):c.1375G>A (p.Ala459Thr)
|
rs369613549
|
0.00001
|
NM_021930.6(RINT1):c.1380G>C (p.Trp460Cys)
|
rs774638843
|
0.00001
|
NM_021930.6(RINT1):c.1385C>T (p.Ser462Leu)
|
rs750920467
|
0.00001
|
NM_021930.6(RINT1):c.1419G>T (p.Met473Ile)
|
rs1347113517
|
0.00001
|
NM_021930.6(RINT1):c.141A>T (p.Thr47=)
|
rs756001839
|
0.00001
|
NM_021930.6(RINT1):c.1442C>A (p.Thr481Asn)
|
rs749178953
|
0.00001
|
NM_021930.6(RINT1):c.1444T>C (p.Phe482Leu)
|
rs1455268910
|
0.00001
|
NM_021930.6(RINT1):c.1447A>G (p.Met483Val)
|
rs869312982
|
0.00001
|
NM_021930.6(RINT1):c.1476G>A (p.Arg492=)
|
rs566923305
|
0.00001
|
NM_021930.6(RINT1):c.1493C>T (p.Thr498Ile)
|
rs778897084
|
0.00001
|
NM_021930.6(RINT1):c.1502G>A (p.Arg501Gln)
|
rs1586250404
|
0.00001
|
NM_021930.6(RINT1):c.154C>T (p.Leu52Phe)
|
rs1488958943
|
0.00001
|
NM_021930.6(RINT1):c.1583C>G (p.Thr528Ser)
|
rs1006861924
|
0.00001
|
NM_021930.6(RINT1):c.1594C>T (p.Leu532Phe)
|
rs760823101
|
0.00001
|
NM_021930.6(RINT1):c.1609T>C (p.Cys537Arg)
|
rs1060503049
|
0.00001
|
NM_021930.6(RINT1):c.1615A>G (p.Ile539Val)
|
rs765128005
|
0.00001
|
NM_021930.6(RINT1):c.1621A>G (p.Asn541Asp)
|
rs370831512
|
0.00001
|
NM_021930.6(RINT1):c.1700T>C (p.Leu567Pro)
|
rs769903060
|
0.00001
|
NM_021930.6(RINT1):c.1705G>T (p.Val569Leu)
|
rs1376227226
|
0.00001
|
NM_021930.6(RINT1):c.1749G>C (p.Gln583His)
|
rs1305742565
|
0.00001
|
NM_021930.6(RINT1):c.1754C>A (p.Ala585Asp)
|
rs755864687
|
0.00001
|
NM_021930.6(RINT1):c.1757C>G (p.Ser586Cys)
|
rs142797410
|
0.00001
|
NM_021930.6(RINT1):c.1759A>G (p.Met587Val)
|
rs1791559796
|
0.00001
|
NM_021930.6(RINT1):c.17A>G (p.Glu6Gly)
|
rs1159994923
|
0.00001
|
NM_021930.6(RINT1):c.1801C>T (p.Arg601Cys)
|
rs780570787
|
0.00001
|
NM_021930.6(RINT1):c.1837C>T (p.His613Tyr)
|
rs79858161
|
0.00001
|
NM_021930.6(RINT1):c.1855A>C (p.Lys619Gln)
|
rs774446801
|
0.00001
|
NM_021930.6(RINT1):c.194G>T (p.Gly65Val)
|
rs1228140390
|
0.00001
|
NM_021930.6(RINT1):c.262T>G (p.Leu88Val)
|
rs1404756163
|
0.00001
|
NM_021930.6(RINT1):c.38C>T (p.Ala13Val)
|
rs1310020871
|
0.00001
|
NM_021930.6(RINT1):c.427G>A (p.Asp143Asn)
|
rs750288704
|
0.00001
|
NM_021930.6(RINT1):c.451C>G (p.Gln151Glu)
|
rs754311490
|
0.00001
|
NM_021930.6(RINT1):c.466G>A (p.Glu156Lys)
|
rs772540725
|
0.00001
|
NM_021930.6(RINT1):c.503T>C (p.Ile168Thr)
|
rs1163153405
|
0.00001
|
NM_021930.6(RINT1):c.515+6A>G
|
rs748175246
|
0.00001
|
NM_021930.6(RINT1):c.554C>T (p.Pro185Leu)
|
rs774983645
|
0.00001
|
NM_021930.6(RINT1):c.574G>A (p.Val192Met)
|
rs758911071
|
0.00001
|
NM_021930.6(RINT1):c.589C>G (p.Leu197Val)
|
rs752022019
|
0.00001
|
NM_021930.6(RINT1):c.614C>T (p.Ser205Phe)
|
rs1169125602
|
0.00001
|
NM_021930.6(RINT1):c.61G>A (p.Asp21Asn)
|
rs758536777
|
0.00001
|
NM_021930.6(RINT1):c.623A>T (p.His208Leu)
|
rs144463752
|
0.00001
|
NM_021930.6(RINT1):c.632G>C (p.Gly211Ala)
|
rs756236683
|
0.00001
|
NM_021930.6(RINT1):c.670C>G (p.Leu224Val)
|
rs771733562
|
0.00001
|
NM_021930.6(RINT1):c.68G>A (p.Arg23Lys)
|
rs988368046
|
0.00001
|
NM_021930.6(RINT1):c.690-3C>T
|
rs776404650
|
0.00001
|
NM_021930.6(RINT1):c.733G>A (p.Ala245Thr)
|
rs759899058
|
0.00001
|
NM_021930.6(RINT1):c.794G>C (p.Ser265Thr)
|
rs1409521142
|
0.00001
|
NM_021930.6(RINT1):c.839C>T (p.Ser280Leu)
|
rs765492463
|
0.00001
|
NM_021930.6(RINT1):c.89-4del
|
rs755970186
|
0.00001
|
NM_021930.6(RINT1):c.954G>C (p.Arg318Ser)
|
rs752595144
|
0.00001
|
NM_021930.6(RINT1):c.973C>T (p.Arg325Trp)
|
rs753489260
|
0.00001
|
NC_000007.13:g.(?_105172763)_(105189177_?)dup
|
|
|
NC_000007.13:g.(?_105172763)_(105195684_?)dup
|
|
|
NC_000007.13:g.(?_105172763)_(105207758_?)dup
|
|
|
NC_000007.13:g.(?_105173265)_(105177202_?)del
|
|
|
NC_000007.13:g.(?_105173265)_(105207764_?)dup
|
|
|
NC_000007.13:g.(?_105173271)_(105187780_?)dup
|
|
|
NC_000007.13:g.(?_105190492)_(105195684_?)dup
|
|
|
NC_000007.14:g.(?_105532306)_(105547343_?)dup
|
|
|
NC_000007.14:g.(?_105555022)_(105567316_?)del
|
|
|
NC_000007.14:g.(?_105565267)_(105567311_?)dup
|
|
|
NM_021930.6(RINT1):c.-2A>C
|
|
|
NM_021930.6(RINT1):c.-4C>T
|
|
|
NM_021930.6(RINT1):c.1001A>T (p.Glu334Val)
|
rs1790858583
|
|
NM_021930.6(RINT1):c.1007A>G (p.Tyr336Cys)
|
|
|
NM_021930.6(RINT1):c.1018G>A (p.Val340Ile)
|
|
|
NM_021930.6(RINT1):c.1021C>G (p.Leu341Val)
|
rs151055286
|
|
NM_021930.6(RINT1):c.1024A>T (p.Met342Leu)
|
|
|
NM_021930.6(RINT1):c.1026G>A (p.Met342Ile)
|
|
|
NM_021930.6(RINT1):c.1027T>A (p.Trp343Arg)
|
rs760416206
|
|
NM_021930.6(RINT1):c.1027T>C (p.Trp343Arg)
|
rs760416206
|
|
NM_021930.6(RINT1):c.1029G>A (p.Trp343Ter)
|
|
|
NM_021930.6(RINT1):c.1038C>G (p.Asn346Lys)
|
|
|
NM_021930.6(RINT1):c.1045G>A (p.Glu349Lys)
|
|
|
NM_021930.6(RINT1):c.1048T>C (p.Phe350Leu)
|
|
|
NM_021930.6(RINT1):c.1054G>A (p.Asp352Asn)
|
|
|
NM_021930.6(RINT1):c.1055A>T (p.Asp352Val)
|
rs145829580
|
|
NM_021930.6(RINT1):c.1057G>A (p.Glu353Lys)
|
rs1586240712
|
|
NM_021930.6(RINT1):c.1058A>G (p.Glu353Gly)
|
|
|
NM_021930.6(RINT1):c.1069C>T (p.Pro357Ser)
|
rs1296283637
|
|
NM_021930.6(RINT1):c.106G>A (p.Val36Ile)
|
|
|
NM_021930.6(RINT1):c.1078G>A (p.Asp360Asn)
|
rs1790862642
|
|
NM_021930.6(RINT1):c.1081A>G (p.Lys361Glu)
|
|
|
NM_021930.6(RINT1):c.1090T>C (p.Ser364Pro)
|
|
|
NM_021930.6(RINT1):c.1105A>T (p.Arg369Trp)
|
rs2133400524
|
|
NM_021930.6(RINT1):c.1107+2dup
|
|
|
NM_021930.6(RINT1):c.1107G>A (p.Arg369=)
|
|
|
NM_021930.6(RINT1):c.1108C>A (p.Leu370Ile)
|
|
|
NM_021930.6(RINT1):c.1114T>C (p.Phe372Leu)
|
|
|
NM_021930.6(RINT1):c.1129ATG[1] (p.Met378del)
|
rs1210209725
|
|
NM_021930.6(RINT1):c.1131G>A (p.Met377Ile)
|
|
|
NM_021930.6(RINT1):c.1131G>C (p.Met377Ile)
|
|
|
NM_021930.6(RINT1):c.1132A>G (p.Met378Val)
|
|
|
NM_021930.6(RINT1):c.1132A>T (p.Met378Leu)
|
rs548249931
|
|
NM_021930.6(RINT1):c.1134G>A (p.Met378Ile)
|
|
|
NM_021930.6(RINT1):c.1136T>A (p.Leu379Gln)
|
|
|
NM_021930.6(RINT1):c.1138G>T (p.Val380Phe)
|
|
|
NM_021930.6(RINT1):c.1144G>A (p.Glu382Lys)
|
|
|
NM_021930.6(RINT1):c.1157C>T (p.Thr386Ile)
|
rs1790870671
|
|
NM_021930.6(RINT1):c.1163T>G (p.Ile388Ser)
|
|
|
NM_021930.6(RINT1):c.1178A>G (p.Tyr393Cys)
|
|
|
NM_021930.6(RINT1):c.1182T>A (p.Asp394Glu)
|
|
|
NM_021930.6(RINT1):c.1189C>T (p.Leu397Phe)
|
|
|
NM_021930.6(RINT1):c.1190T>G (p.Leu397Arg)
|
|
|
NM_021930.6(RINT1):c.1192T>C (p.Phe398Leu)
|
|
|
NM_021930.6(RINT1):c.1194C>A (p.Phe398Leu)
|
|
|
NM_021930.6(RINT1):c.1196G>A (p.Cys399Tyr)
|
|
|
NM_021930.6(RINT1):c.1199A>G (p.His400Arg)
|
|
|
NM_021930.6(RINT1):c.1203G>C (p.Leu401Phe)
|
rs1790874667
|
|
NM_021930.6(RINT1):c.1207G>A (p.Asp403Asn)
|
rs1289113738
|
|
NM_021930.6(RINT1):c.1207G>C (p.Asp403His)
|
rs1289113738
|
|
NM_021930.6(RINT1):c.1207G>T (p.Asp403Tyr)
|
|
|
NM_021930.6(RINT1):c.1208A>G (p.Asp403Gly)
|
|
|
NM_021930.6(RINT1):c.1208A>T (p.Asp403Val)
|
|
|
NM_021930.6(RINT1):c.1209T>G (p.Asp403Glu)
|
|
|
NM_021930.6(RINT1):c.1213G>T (p.Val405Leu)
|
|
|
NM_021930.6(RINT1):c.1216C>T (p.Leu406Phe)
|
|
|
NM_021930.6(RINT1):c.1217T>C (p.Leu406Pro)
|
rs1790876170
|
|
NM_021930.6(RINT1):c.1220T>C (p.Leu407Ser)
|
|
|
NM_021930.6(RINT1):c.1222T>A (p.Phe408Ile)
|
rs2133402018
|
|
NM_021930.6(RINT1):c.1229G>T (p.Arg410Met)
|
rs1790876780
|
|
NM_021930.6(RINT1):c.1232A>G (p.Glu411Gly)
|
|
|
NM_021930.6(RINT1):c.1232A>T (p.Glu411Val)
|
|
|
NM_021930.6(RINT1):c.1240A>G (p.Ser414Gly)
|
rs781158188
|
|
NM_021930.6(RINT1):c.1246C>T (p.His416Tyr)
|
rs1221027048
|
|
NM_021930.6(RINT1):c.1247A>T (p.His416Leu)
|
|
|
NM_021930.6(RINT1):c.1253A>G (p.Tyr418Cys)
|
|
|
NM_021930.6(RINT1):c.1260C>T (p.Gly420=)
|
|
|
NM_021930.6(RINT1):c.1267G>T (p.Ala423Ser)
|
|
|
NM_021930.6(RINT1):c.1267_1268delinsTT (p.Ala423Phe)
|
|
|
NM_021930.6(RINT1):c.1268C>T (p.Ala423Val)
|
|
|
NM_021930.6(RINT1):c.126dup (p.Val43fs)
|
|
|
NM_021930.6(RINT1):c.1279C>T (p.His427Tyr)
|
|
|
NM_021930.6(RINT1):c.1280A>G (p.His427Arg)
|
rs1790879950
|
|
NM_021930.6(RINT1):c.1284T>G (p.Ile428Met)
|
rs2133402553
|
|
NM_021930.6(RINT1):c.128T>C (p.Val43Ala)
|
|
|
NM_021930.6(RINT1):c.1291G>A (p.Glu431Lys)
|
rs746091747
|
|
NM_021930.6(RINT1):c.1303T>C (p.Phe435Leu)
|
|
|
NM_021930.6(RINT1):c.130A>C (p.Ser44Arg)
|
|
|
NM_021930.6(RINT1):c.130A>T (p.Ser44Cys)
|
|
|
NM_021930.6(RINT1):c.1310G>T (p.Arg437Ile)
|
|
|
NM_021930.6(RINT1):c.1312T>C (p.Trp438Arg)
|
|
|
NM_021930.6(RINT1):c.1317G>T (p.Leu439Phe)
|
|
|
NM_021930.6(RINT1):c.131G>A (p.Ser44Asn)
|
|
|
NM_021930.6(RINT1):c.131G>T (p.Ser44Ile)
|
|
|
NM_021930.6(RINT1):c.1324G>C (p.Glu442Gln)
|
rs1790883102
|
|
NM_021930.6(RINT1):c.1331A>G (p.Lys444Arg)
|
|
|
NM_021930.6(RINT1):c.1333T>C (p.Phe445Leu)
|
|
|
NM_021930.6(RINT1):c.1334-5A>G
|
|
|
NM_021930.6(RINT1):c.1334-5_1335delinsTCA
|
rs878855071
|
|
NM_021930.6(RINT1):c.1336G>A (p.Ala446Thr)
|
|
|
NM_021930.6(RINT1):c.1337C>T (p.Ala446Val)
|
|
|
NM_021930.6(RINT1):c.1339C>T (p.Leu447Phe)
|
rs1562851056
|
|
NM_021930.6(RINT1):c.133G>A (p.Glu45Lys)
|
|
|
NM_021930.6(RINT1):c.1349T>C (p.Met450Thr)
|
|
|
NM_021930.6(RINT1):c.1349del (p.Met450fs)
|
|
|
NM_021930.6(RINT1):c.134A>C (p.Glu45Ala)
|
|
|
NM_021930.6(RINT1):c.1357A>T (p.Met453Leu)
|
rs1184845991
|
|
NM_021930.6(RINT1):c.1358T>A (p.Met453Lys)
|
|
|
NM_021930.6(RINT1):c.1360C>T (p.Leu454Phe)
|
rs2133407190
|
|
NM_021930.6(RINT1):c.136G>A (p.Gly46Ser)
|
|
|
NM_021930.6(RINT1):c.136G>C (p.Gly46Arg)
|
|
|
NM_021930.6(RINT1):c.1372G>C (p.Ala458Pro)
|
|
|
NM_021930.6(RINT1):c.137G>A (p.Gly46Asp)
|
rs961084109
|
|
NM_021930.6(RINT1):c.1388A>T (p.Gln463Leu)
|
|
|
NM_021930.6(RINT1):c.1390T>C (p.Tyr464His)
|
rs555353133
|
|
NM_021930.6(RINT1):c.1391A>G (p.Tyr464Cys)
|
|
|
NM_021930.6(RINT1):c.1393A>G (p.Lys465Glu)
|
rs1327097161
|
|
NM_021930.6(RINT1):c.13G>A (p.Gly5Ser)
|
|
|
NM_021930.6(RINT1):c.1403C>T (p.Thr468Ile)
|
|
|
NM_021930.6(RINT1):c.1405G>A (p.Asp469Asn)
|
|
|
NM_021930.6(RINT1):c.1405G>C (p.Asp469His)
|
rs1295690900
|
|
NM_021930.6(RINT1):c.1407C>G (p.Asp469Glu)
|
rs536496735
|
|
NM_021930.6(RINT1):c.1408G>A (p.Val470Met)
|
|
|
NM_021930.6(RINT1):c.1408G>T (p.Val470Leu)
|
rs755218444
|
|
NM_021930.6(RINT1):c.141A>G (p.Thr47=)
|
rs756001839
|
|
NM_021930.6(RINT1):c.1429G>C (p.Asp477His)
|
|
|
NM_021930.6(RINT1):c.1435G>C (p.Ala479Pro)
|
|
|
NM_021930.6(RINT1):c.1449G>T (p.Met483Ile)
|
|
|
NM_021930.6(RINT1):c.1451C>T (p.Thr484Ile)
|
rs755999062
|
|
NM_021930.6(RINT1):c.1456C>A (p.Leu486Ile)
|
rs1386234734
|
|
NM_021930.6(RINT1):c.145A>T (p.Asn49Tyr)
|
|
|
NM_021930.6(RINT1):c.1462G>C (p.Val488Leu)
|
|
|
NM_021930.6(RINT1):c.1462G>T (p.Val488Phe)
|
rs1586243751
|
|
NM_021930.6(RINT1):c.1465A>G (p.Ile489Val)
|
rs1586243760
|
|
NM_021930.6(RINT1):c.146A>G (p.Asn49Ser)
|
|
|
NM_021930.6(RINT1):c.1472-13A>T
|
|
|
NM_021930.6(RINT1):c.1476G>T (p.Arg492Ser)
|
|
|
NM_021930.6(RINT1):c.1489C>T (p.Pro497Ser)
|
rs1562853764
|
|
NM_021930.6(RINT1):c.1492A>G (p.Thr498Ala)
|
|
|
NM_021930.6(RINT1):c.1493C>G (p.Thr498Arg)
|
|
|
NM_021930.6(RINT1):c.1495G>A (p.Ala499Thr)
|
rs1791116042
|
|
NM_021930.6(RINT1):c.1496C>T (p.Ala499Val)
|
|
|
NM_021930.6(RINT1):c.1508T>C (p.Leu503Pro)
|
|
|
NM_021930.6(RINT1):c.151G>A (p.Asp51Asn)
|
|
|
NM_021930.6(RINT1):c.1521G>T (p.Glu507Asp)
|
rs535889267
|
|
NM_021930.6(RINT1):c.1527G>T (p.Gln509His)
|
|
|
NM_021930.6(RINT1):c.1528A>C (p.Lys510Gln)
|
|
|
NM_021930.6(RINT1):c.1532A>G (p.Asp511Gly)
|
|
|
NM_021930.6(RINT1):c.1538T>C (p.Val513Ala)
|
|
|
NM_021930.6(RINT1):c.1550G>C (p.Arg517Thr)
|
|
|
NM_021930.6(RINT1):c.1562C>T (p.Thr521Ile)
|
|
|
NM_021930.6(RINT1):c.1565A>C (p.Gln522Pro)
|
|
|
NM_021930.6(RINT1):c.1576G>A (p.Glu526Lys)
|
|
|
NM_021930.6(RINT1):c.1586del (p.Arg529fs)
|
|
|
NM_021930.6(RINT1):c.1588G>A (p.Ala530Thr)
|
|
|
NM_021930.6(RINT1):c.1597G>A (p.Gly533Ser)
|
rs1586250638
|
|
NM_021930.6(RINT1):c.1598G>A (p.Gly533Asp)
|
|
|
NM_021930.6(RINT1):c.1598G>C (p.Gly533Ala)
|
|
|
NM_021930.6(RINT1):c.1603C>A (p.Arg535=)
|
rs764298491
|
|
NM_021930.6(RINT1):c.1604G>A (p.Arg535Gln)
|
rs753924429
|
|
NM_021930.6(RINT1):c.1610G>A (p.Cys537Tyr)
|
rs757339645
|
|
NM_021930.6(RINT1):c.1610G>C (p.Cys537Ser)
|
rs757339645
|
|
NM_021930.6(RINT1):c.1612G>A (p.Ala538Thr)
|
|
|
NM_021930.6(RINT1):c.1626del (p.Ala542_Val543insTer)
|
|
|
NM_021930.6(RINT1):c.162T>G (p.Ser54=)
|
|
|
NM_021930.6(RINT1):c.1630A>G (p.Asn544Asp)
|
|
|
NM_021930.6(RINT1):c.1633T>C (p.Tyr545His)
|
|
|
NM_021930.6(RINT1):c.1634A>T (p.Tyr545Phe)
|
rs973997596
|
|
NM_021930.6(RINT1):c.1636A>G (p.Ile546Val)
|
|
|
NM_021930.6(RINT1):c.1636A>T (p.Ile546Phe)
|
|
|
NM_021930.6(RINT1):c.1637T>A (p.Ile546Asn)
|
|
|
NM_021930.6(RINT1):c.1637T>C (p.Ile546Thr)
|
|
|
NM_021930.6(RINT1):c.163T>A (p.Tyr55Asn)
|
|
|
NM_021930.6(RINT1):c.1644A>G (p.Thr548=)
|
|
|
NM_021930.6(RINT1):c.1648C>G (p.Leu550Val)
|
|
|
NM_021930.6(RINT1):c.1649T>C (p.Leu550Pro)
|
|
|
NM_021930.6(RINT1):c.164A>G (p.Tyr55Cys)
|
rs2133358086
|
|
NM_021930.6(RINT1):c.1654G>C (p.Asp552His)
|
rs1586250839
|
|
NM_021930.6(RINT1):c.1657T>G (p.Trp553Gly)
|
|
|
NM_021930.6(RINT1):c.165T>A (p.Tyr55Ter)
|
|
|
NM_021930.6(RINT1):c.165T>C (p.Tyr55=)
|
|
|
NM_021930.6(RINT1):c.1660G>T (p.Ala554Ser)
|
|
|
NM_021930.6(RINT1):c.1665C>G (p.Asp555Glu)
|
|
|
NM_021930.6(RINT1):c.1666A>G (p.Asn556Asp)
|
rs1791131103
|
|
NM_021930.6(RINT1):c.1667A>G (p.Asn556Ser)
|
|
|
NM_021930.6(RINT1):c.166G>A (p.Val56Met)
|
|
|
NM_021930.6(RINT1):c.1671_1671+2del
|
rs869312981
|
|
NM_021930.6(RINT1):c.1672-15T>A
|
|
|
NM_021930.6(RINT1):c.1672-1G>C
|
|
|
NM_021930.6(RINT1):c.1672-3C>T
|
|
|
NM_021930.6(RINT1):c.1672T>G (p.Phe558Val)
|
|
|
NM_021930.6(RINT1):c.1673T>C (p.Phe558Ser)
|
rs2133463305
|
|
NM_021930.6(RINT1):c.1674C>A (p.Phe558Leu)
|
rs1159314611
|
|
NM_021930.6(RINT1):c.1675T>C (p.Phe559Leu)
|
|
|
NM_021930.6(RINT1):c.1688A>C (p.Gln563Pro)
|
|
|
NM_021930.6(RINT1):c.1689A>G (p.Gln563=)
|
rs1791553769
|
|
NM_021930.6(RINT1):c.1691A>G (p.Gln564Arg)
|
|
|
NM_021930.6(RINT1):c.1694C>A (p.Ala565Asp)
|
|
|
NM_021930.6(RINT1):c.1694C>G (p.Ala565Gly)
|
|
|
NM_021930.6(RINT1):c.1697C>A (p.Ala566Glu)
|
rs2133463532
|
|
NM_021930.6(RINT1):c.1697C>T (p.Ala566Val)
|
|
|
NM_021930.6(RINT1):c.169T>A (p.Ser57Thr)
|
rs202129129
|
|
NM_021930.6(RINT1):c.1711G>C (p.Ala571Pro)
|
rs1791555375
|
|
NM_021930.6(RINT1):c.1711G>T (p.Ala571Ser)
|
|
|
NM_021930.6(RINT1):c.1712C>T (p.Ala571Val)
|
|
|
NM_021930.6(RINT1):c.1718ATA[1] (p.Asn574del)
|
|
|
NM_021930.6(RINT1):c.1719T>G (p.Asn573Lys)
|
|
|
NM_021930.6(RINT1):c.1721A>C (p.Asn574Thr)
|
rs763099446
|
|
NM_021930.6(RINT1):c.1722T>G (p.Asn574Lys)
|
|
|
NM_021930.6(RINT1):c.1724C>T (p.Thr575Ile)
|
|
|
NM_021930.6(RINT1):c.1727T>C (p.Leu576Pro)
|
|
|
NM_021930.6(RINT1):c.1731T>A (p.Ser577Arg)
|
rs751497758
|
|
NM_021930.6(RINT1):c.1738del (p.Gln580fs)
|
rs1791557727
|
|
NM_021930.6(RINT1):c.173C>T (p.Ala58Val)
|
|
|
NM_021930.6(RINT1):c.1744G>A (p.Gly582Arg)
|
|
|
NM_021930.6(RINT1):c.1751T>A (p.Leu584Gln)
|
|
|
NM_021930.6(RINT1):c.1751T>G (p.Leu584Arg)
|
rs752301281
|
|
NM_021930.6(RINT1):c.1753G>A (p.Ala585Thr)
|
|
|
NM_021930.6(RINT1):c.1756T>A (p.Ser586Thr)
|
|
|
NM_021930.6(RINT1):c.1760T>A (p.Met587Lys)
|
|
|
NM_021930.6(RINT1):c.1760T>C (p.Met587Thr)
|
rs1471325020
|
|
NM_021930.6(RINT1):c.1771G>C (p.Val591Leu)
|
rs1060503045
|
|
NM_021930.6(RINT1):c.1773_1776dup (p.Asp593delinsLeuTer)
|
|
|
NM_021930.6(RINT1):c.1780_1781delinsAT (p.Asp594Ile)
|
|
|
NM_021930.6(RINT1):c.1783A>C (p.Met595Leu)
|
|
|
NM_021930.6(RINT1):c.1789A>C (p.Asn597His)
|
|
|
NM_021930.6(RINT1):c.1793T>C (p.Leu598Pro)
|
|
|
NM_021930.6(RINT1):c.1798G>A (p.Glu600Lys)
|
|
|
NM_021930.6(RINT1):c.17A>C (p.Glu6Ala)
|
|
|
NM_021930.6(RINT1):c.1801C>G (p.Arg601Gly)
|
|
|
NM_021930.6(RINT1):c.1802G>A (p.Arg601His)
|
|
|
NM_021930.6(RINT1):c.1802G>T (p.Arg601Leu)
|
|
|
NM_021930.6(RINT1):c.1808A>G (p.Lys603Arg)
|
rs2133464714
|
|
NM_021930.6(RINT1):c.1811A>G (p.His604Arg)
|
|
|
NM_021930.6(RINT1):c.1813_1815del (p.Asp605del)
|
rs777410924
|
|
NM_021930.6(RINT1):c.1817T>C (p.Met606Thr)
|
rs1309054871
|
|
NM_021930.6(RINT1):c.1818G>A (p.Met606Ile)
|
|
|
NM_021930.6(RINT1):c.1825C>T (p.Arg609Cys)
|
rs748446895
|
|
NM_021930.6(RINT1):c.1826G>A (p.Arg609His)
|
|
|
NM_021930.6(RINT1):c.1832T>C (p.Val611Ala)
|
|
|
NM_021930.6(RINT1):c.1837C>A (p.His613Asn)
|
rs79858161
|
|
NM_021930.6(RINT1):c.1847G>C (p.Arg616Thr)
|
|
|
NM_021930.6(RINT1):c.1849G>C (p.Glu617Gln)
|
|
|
NM_021930.6(RINT1):c.1851A>C (p.Glu617Asp)
|
rs1791565930
|
|
NM_021930.6(RINT1):c.1853_1858del (p.Val618_Lys619del)
|
rs1554367227
|
|
NM_021930.6(RINT1):c.1859A>T (p.Asp620Val)
|
rs1044847636
|
|
NM_021930.6(RINT1):c.1860T>G (p.Asp620Glu)
|
rs905967185
|
|
NM_021930.6(RINT1):c.1868A>G (p.Lys623Arg)
|
|
|
NM_021930.6(RINT1):c.1876A>G (p.Lys626Glu)
|
|
|
NM_021930.6(RINT1):c.1886+4T>C
|
rs1791568180
|
|
NM_021930.6(RINT1):c.1886+5G>A
|
|
|
NM_021930.6(RINT1):c.190G>T (p.Val64Phe)
|
|
|
NM_021930.6(RINT1):c.193G>A (p.Gly65Arg)
|
|
|
NM_021930.6(RINT1):c.196A>G (p.Asn66Asp)
|
|
|
NM_021930.6(RINT1):c.199G>A (p.Asp67Asn)
|
|
|
NM_021930.6(RINT1):c.19A>T (p.Ile7Phe)
|
|
|
NM_021930.6(RINT1):c.200A>G (p.Asp67Gly)
|
|
|
NM_021930.6(RINT1):c.202C>T (p.Leu68Phe)
|
rs1790249927
|
|
NM_021930.6(RINT1):c.206A>G (p.Lys69Arg)
|
|
|
NM_021930.6(RINT1):c.219A>T (p.Lys73Asn)
|
rs987417898
|
|
NM_021930.6(RINT1):c.22G>A (p.Gly8Ser)
|
|
|
NM_021930.6(RINT1):c.233T>C (p.Ile78Thr)
|
|
|
NM_021930.6(RINT1):c.241A>T (p.Arg81Trp)
|
|
|
NM_021930.6(RINT1):c.244A>G (p.Thr82Ala)
|
|
|
NM_021930.6(RINT1):c.245C>A (p.Thr82Lys)
|
|
|
NM_021930.6(RINT1):c.245C>T (p.Thr82Ile)
|
|
|
NM_021930.6(RINT1):c.246A>G (p.Thr82=)
|
rs1790251395
|
|
NM_021930.6(RINT1):c.247G>A (p.Val83Ile)
|
rs1586216562
|
|
NM_021930.6(RINT1):c.251G>A (p.Ser84Asn)
|
rs1017536954
|
|
NM_021930.6(RINT1):c.251G>T (p.Ser84Ile)
|
|
|
NM_021930.6(RINT1):c.252T>A (p.Ser84Arg)
|
rs1790251758
|
|
NM_021930.6(RINT1):c.26C>T (p.Ala9Val)
|
|
|
NM_021930.6(RINT1):c.271C>A (p.Gln91Lys)
|
rs759572033
|
|
NM_021930.6(RINT1):c.273+6T>C
|
|
|
NM_021930.6(RINT1):c.274-2A>G
|
|
|
NM_021930.6(RINT1):c.274-7T>G
|
|
|
NM_021930.6(RINT1):c.274G>A (p.Val92Ile)
|
|
|
NM_021930.6(RINT1):c.275T>C (p.Val92Ala)
|
|
|
NM_021930.6(RINT1):c.277C>T (p.Leu93Phe)
|
|
|
NM_021930.6(RINT1):c.281C>A (p.Thr94Lys)
|
rs774464035
|
|
NM_021930.6(RINT1):c.281C>G (p.Thr94Arg)
|
rs774464035
|
|
NM_021930.6(RINT1):c.283A>C (p.Ile95Leu)
|
|
|
NM_021930.6(RINT1):c.283A>G (p.Ile95Val)
|
|
|
NM_021930.6(RINT1):c.287C>T (p.Ser96Leu)
|
|
|
NM_021930.6(RINT1):c.289T>A (p.Ser97Thr)
|
|
|
NM_021930.6(RINT1):c.289T>G (p.Ser97Ala)
|
rs2133373069
|
|
NM_021930.6(RINT1):c.292G>C (p.Glu98Gln)
|
|
|
NM_021930.6(RINT1):c.294A>T (p.Glu98Asp)
|
rs2133373076
|
|
NM_021930.6(RINT1):c.296T>G (p.Ile99Ser)
|
rs1060503050
|
|
NM_021930.6(RINT1):c.297T>G (p.Ile99Met)
|
|
|
NM_021930.6(RINT1):c.299C>G (p.Pro100Arg)
|
rs1790496649
|
|
NM_021930.6(RINT1):c.29C>A (p.Ser10Tyr)
|
rs1301146115
|
|
NM_021930.6(RINT1):c.29C>T (p.Ser10Phe)
|
rs1301146115
|
|
NM_021930.6(RINT1):c.301A>G (p.Lys101Glu)
|
rs2133373107
|
|
NM_021930.6(RINT1):c.305G>T (p.Arg102Ile)
|
|
|
NM_021930.6(RINT1):c.310C>G (p.Arg104Gly)
|
rs777242801
|
|
NM_021930.6(RINT1):c.310C>T (p.Arg104Ter)
|
rs777242801
|
|
NM_021930.6(RINT1):c.311G>A (p.Arg104Gln)
|
rs866948739
|
|
NM_021930.6(RINT1):c.326A>G (p.Asn109Ser)
|
rs765034316
|
|
NM_021930.6(RINT1):c.331G>A (p.Glu111Lys)
|
|
|
NM_021930.6(RINT1):c.335A>T (p.Glu112Val)
|
rs757982808
|
|
NM_021930.6(RINT1):c.337T>A (p.Ser113Thr)
|
rs2133373236
|
|
NM_021930.6(RINT1):c.340A>C (p.Lys114Gln)
|
|
|
NM_021930.6(RINT1):c.340A>G (p.Lys114Glu)
|
rs751130201
|
|
NM_021930.6(RINT1):c.342G>A (p.Lys114=)
|
|
|
NM_021930.6(RINT1):c.347T>C (p.Phe116Ser)
|
|
|
NM_021930.6(RINT1):c.352A>T (p.Asn118Tyr)
|
|
|
NM_021930.6(RINT1):c.353A>G (p.Asn118Ser)
|
|
|
NM_021930.6(RINT1):c.365A>G (p.Glu122Gly)
|
|
|
NM_021930.6(RINT1):c.368A>G (p.Gln123Arg)
|
|
|
NM_021930.6(RINT1):c.377A>C (p.His126Pro)
|
rs1790499902
|
|
NM_021930.6(RINT1):c.377A>G (p.His126Arg)
|
rs1790499902
|
|
NM_021930.6(RINT1):c.37G>T (p.Ala13Ser)
|
|
|
NM_021930.6(RINT1):c.380T>G (p.Leu127Arg)
|
|
|
NM_021930.6(RINT1):c.390del (p.Ile131fs)
|
rs771302691
|
|
NM_021930.6(RINT1):c.394A>G (p.Asn132Asp)
|
|
|
NM_021930.6(RINT1):c.397A>G (p.Ser133Gly)
|
|
|
NM_021930.6(RINT1):c.398G>A (p.Ser133Asn)
|
|
|
NM_021930.6(RINT1):c.401A>G (p.His134Arg)
|
rs1586226797
|
|
NM_021930.6(RINT1):c.403T>G (p.Leu135Val)
|
|
|
NM_021930.6(RINT1):c.407T>C (p.Leu136Pro)
|
|
|
NM_021930.6(RINT1):c.407T>G (p.Leu136Arg)
|
|
|
NM_021930.6(RINT1):c.412G>A (p.Ala138Thr)
|
|
|
NM_021930.6(RINT1):c.412G>C (p.Ala138Pro)
|
|
|
NM_021930.6(RINT1):c.419C>T (p.Pro140Leu)
|
|
|
NM_021930.6(RINT1):c.421T>C (p.Trp141Arg)
|
rs1381365851
|
|
NM_021930.6(RINT1):c.424A>G (p.Met142Val)
|
|
|
NM_021930.6(RINT1):c.425T>C (p.Met142Thr)
|
|
|
NM_021930.6(RINT1):c.428A>G (p.Asp143Gly)
|
|
|
NM_021930.6(RINT1):c.42G>A (p.Pro14=)
|
|
|
NM_021930.6(RINT1):c.42G>T (p.Pro14=)
|
rs528759477
|
|
NM_021930.6(RINT1):c.43-3T>C
|
rs1790087248
|
|
NM_021930.6(RINT1):c.430G>C (p.Asp144His)
|
|
|
NM_021930.6(RINT1):c.430G>T (p.Asp144Tyr)
|
rs139214585
|
|
NM_021930.6(RINT1):c.434T>C (p.Leu145Pro)
|
|
|
NM_021930.6(RINT1):c.436G>A (p.Gly146Arg)
|
|
|
NM_021930.6(RINT1):c.442A>G (p.Met148Val)
|
rs1790502878
|
|
NM_021930.6(RINT1):c.443T>C (p.Met148Thr)
|
rs1220794918
|
|
NM_021930.6(RINT1):c.445A>T (p.Ile149Phe)
|
|
|
NM_021930.6(RINT1):c.448A>G (p.Ser150Gly)
|
|
|
NM_021930.6(RINT1):c.452A>G (p.Gln151Arg)
|
|
|
NM_021930.6(RINT1):c.454A>G (p.Ile152Val)
|
rs757714629
|
|
NM_021930.6(RINT1):c.455T>A (p.Ile152Asn)
|
|
|
NM_021930.6(RINT1):c.455T>C (p.Ile152Thr)
|
|
|
NM_021930.6(RINT1):c.462G>T (p.Glu154Asp)
|
|
|
NM_021930.6(RINT1):c.463A>C (p.Ile155Leu)
|
rs1358398173
|
|
NM_021930.6(RINT1):c.464T>C (p.Ile155Thr)
|
|
|
NM_021930.6(RINT1):c.465C>G (p.Ile155Met)
|
rs79893877
|
|
NM_021930.6(RINT1):c.466G>C (p.Glu156Gln)
|
rs772540725
|
|
NM_021930.6(RINT1):c.472C>T (p.His158Tyr)
|
|
|
NM_021930.6(RINT1):c.478G>A (p.Ala160Thr)
|
|
|
NM_021930.6(RINT1):c.479C>G (p.Ala160Gly)
|
|
|
NM_021930.6(RINT1):c.479C>T (p.Ala160Val)
|
|
|
NM_021930.6(RINT1):c.482A>G (p.Tyr161Cys)
|
|
|
NM_021930.6(RINT1):c.487A>G (p.Lys163Glu)
|
|
|
NM_021930.6(RINT1):c.48C>G (p.Cys16Trp)
|
|
|
NM_021930.6(RINT1):c.497C>T (p.Ser166Leu)
|
rs267601219
|
|
NM_021930.6(RINT1):c.499C>G (p.Gln167Glu)
|
rs2133374047
|
|
NM_021930.6(RINT1):c.49T>A (p.Ser17Thr)
|
|
|
NM_021930.6(RINT1):c.505G>A (p.Glu169Lys)
|
|
|
NM_021930.6(RINT1):c.50C>G (p.Ser17Cys)
|
rs1790087339
|
|
NM_021930.6(RINT1):c.515+3A>G
|
|
|
NM_021930.6(RINT1):c.515+4A>C
|
|
|
NM_021930.6(RINT1):c.515+5A>C
|
rs2133374143
|
|
NM_021930.6(RINT1):c.518A>G (p.Asp173Gly)
|
rs375452335
|
|
NM_021930.6(RINT1):c.521A>C (p.Asn174Thr)
|
|
|
NM_021930.6(RINT1):c.528G>T (p.Gln176His)
|
|
|
NM_021930.6(RINT1):c.53A>T (p.Glu18Val)
|
|
|
NM_021930.6(RINT1):c.545A>G (p.Asn182Ser)
|
|
|
NM_021930.6(RINT1):c.546T>G (p.Asn182Lys)
|
|
|
NM_021930.6(RINT1):c.550G>A (p.Val184Ile)
|
|
|
NM_021930.6(RINT1):c.553C>G (p.Pro185Ala)
|
rs878855073
|
|
NM_021930.6(RINT1):c.560C>T (p.Ala187Val)
|
|
|
NM_021930.6(RINT1):c.568A>G (p.Thr190Ala)
|
rs1271923575
|
|
NM_021930.6(RINT1):c.568A>T (p.Thr190Ser)
|
|
|
NM_021930.6(RINT1):c.571C>G (p.Leu191Val)
|
|
|
NM_021930.6(RINT1):c.580A>G (p.Met194Val)
|
|
|
NM_021930.6(RINT1):c.581T>C (p.Met194Thr)
|
rs1037612731
|
|
NM_021930.6(RINT1):c.583G>A (p.Ala195Thr)
|
rs766990153
|
|
NM_021930.6(RINT1):c.58G>C (p.Gly20Arg)
|
|
|
NM_021930.6(RINT1):c.592G>A (p.Asp198Asn)
|
rs1586234514
|
|
NM_021930.6(RINT1):c.592G>C (p.Asp198His)
|
|
|
NM_021930.6(RINT1):c.592del (p.Asp198fs)
|
|
|
NM_021930.6(RINT1):c.595A>C (p.Ile199Leu)
|
|
|
NM_021930.6(RINT1):c.5T>C (p.Leu2Pro)
|
rs761138389
|
|
NM_021930.6(RINT1):c.601C>T (p.Leu201Phe)
|
|
|
NM_021930.6(RINT1):c.604C>A (p.Gln202Lys)
|
rs1562847240
|
|
NM_021930.6(RINT1):c.604C>T (p.Gln202Ter)
|
rs1562847240
|
|
NM_021930.6(RINT1):c.609A>T (p.Glu203Asp)
|
|
|
NM_021930.6(RINT1):c.613T>C (p.Ser205Pro)
|
rs1586234559
|
|
NM_021930.6(RINT1):c.617del (p.Cys206fs)
|
rs1790695219
|
|
NM_021930.6(RINT1):c.623A>G (p.His208Arg)
|
|
|
NM_021930.6(RINT1):c.625C>A (p.Leu209Ile)
|
|
|
NM_021930.6(RINT1):c.625CTT[1] (p.Leu210del)
|
|
|
NM_021930.6(RINT1):c.626T>C (p.Leu209Pro)
|
|
|
NM_021930.6(RINT1):c.629T>A (p.Leu210His)
|
|
|
NM_021930.6(RINT1):c.629T>G (p.Leu210Arg)
|
rs748281522
|
|
NM_021930.6(RINT1):c.634T>A (p.Phe212Ile)
|
|
|
NM_021930.6(RINT1):c.637A>G (p.Met213Val)
|
rs1193018133
|
|
NM_021930.6(RINT1):c.638T>C (p.Met213Thr)
|
|
|
NM_021930.6(RINT1):c.649G>A (p.Val217Ile)
|
|
|
NM_021930.6(RINT1):c.649G>T (p.Val217Phe)
|
rs878855074
|
|
NM_021930.6(RINT1):c.653A>T (p.Lys218Ile)
|
|
|
NM_021930.6(RINT1):c.657C>A (p.Phe219Leu)
|
rs1172006463
|
|
NM_021930.6(RINT1):c.659G>A (p.Trp220Ter)
|
rs1790697157
|
|
NM_021930.6(RINT1):c.659G>C (p.Trp220Ser)
|
rs1790697157
|
|
NM_021930.6(RINT1):c.662A>G (p.His221Arg)
|
|
|
NM_021930.6(RINT1):c.676G>A (p.Asp226Asn)
|
|
|
NM_021930.6(RINT1):c.688A>G (p.Ser230Gly)
|
|
|
NM_021930.6(RINT1):c.689+3A>G
|
|
|
NM_021930.6(RINT1):c.690-9C>A
|
rs768482695
|
|
NM_021930.6(RINT1):c.706T>G (p.Leu236Val)
|
rs1790704989
|
|
NM_021930.6(RINT1):c.721T>C (p.Trp241Arg)
|
|
|
NM_021930.6(RINT1):c.729C>G (p.Phe243Leu)
|
|
|
NM_021930.6(RINT1):c.730A>G (p.Ile244Val)
|
|
|
NM_021930.6(RINT1):c.736C>G (p.Pro246Ala)
|
rs535827322
|
|
NM_021930.6(RINT1):c.736C>T (p.Pro246Ser)
|
|
|
NM_021930.6(RINT1):c.737C>T (p.Pro246Leu)
|
|
|
NM_021930.6(RINT1):c.740C>T (p.Pro247Leu)
|
|
|
NM_021930.6(RINT1):c.740del (p.Pro247fs)
|
rs1352349454
|
|
NM_021930.6(RINT1):c.742C>G (p.Gln248Glu)
|
|
|
NM_021930.6(RINT1):c.748C>A (p.Gln250Lys)
|
|
|
NM_021930.6(RINT1):c.749A>C (p.Gln250Pro)
|
|
|
NM_021930.6(RINT1):c.74A>C (p.Asn25Thr)
|
|
|
NM_021930.6(RINT1):c.751A>G (p.Thr251Ala)
|
|
|
NM_021930.6(RINT1):c.757G>T (p.Gly253Cys)
|
|
|
NM_021930.6(RINT1):c.764G>A (p.Ser255Asn)
|
|
|
NM_021930.6(RINT1):c.766C>T (p.Arg256Ter)
|
rs144994876
|
|
NM_021930.6(RINT1):c.767G>C (p.Arg256Pro)
|
rs199512216
|
|
NM_021930.6(RINT1):c.769C>T (p.Pro257Ser)
|
|
|
NM_021930.6(RINT1):c.76C>T (p.Leu26Phe)
|
rs1790088487
|
|
NM_021930.6(RINT1):c.770C>T (p.Pro257Leu)
|
|
|
NM_021930.6(RINT1):c.775A>G (p.Ser259Gly)
|
|
|
NM_021930.6(RINT1):c.778G>T (p.Ala260Ser)
|
|
|
NM_021930.6(RINT1):c.782C>G (p.Pro261Arg)
|
rs199535472
|
|
NM_021930.6(RINT1):c.784G>C (p.Glu262Gln)
|
rs1790709176
|
|
NM_021930.6(RINT1):c.786G>T (p.Glu262Asp)
|
rs377396859
|
|
NM_021930.6(RINT1):c.788T>C (p.Ile263Thr)
|
rs2133387881
|
|
NM_021930.6(RINT1):c.791A>G (p.Tyr264Cys)
|
|
|
NM_021930.6(RINT1):c.791A>T (p.Tyr264Phe)
|
|
|
NM_021930.6(RINT1):c.793A>G (p.Ser265Gly)
|
|
|
NM_021930.6(RINT1):c.794G>A (p.Ser265Asn)
|
|
|
NM_021930.6(RINT1):c.797A>G (p.Tyr266Cys)
|
rs1586235354
|
|
NM_021930.6(RINT1):c.79G>T (p.Glu27Ter)
|
|
|
NM_021930.6(RINT1):c.803A>G (p.Glu268Gly)
|
|
|
NM_021930.6(RINT1):c.804G>T (p.Glu268Asp)
|
rs1018470990
|
|
NM_021930.6(RINT1):c.809T>C (p.Leu270Pro)
|
|
|
NM_021930.6(RINT1):c.820C>T (p.Leu274Phe)
|
rs776859681
|
|
NM_021930.6(RINT1):c.825G>C (p.Leu275Phe)
|
|
|
NM_021930.6(RINT1):c.827A>G (p.Lys276Arg)
|
|
|
NM_021930.6(RINT1):c.828A>G (p.Lys276=)
|
rs2133388064
|
|
NM_021930.6(RINT1):c.82G>A (p.Glu28Lys)
|
|
|
NM_021930.6(RINT1):c.839+1G>C
|
|
|
NM_021930.6(RINT1):c.839+3A>C
|
|
|
NM_021930.6(RINT1):c.839+5C>A
|
|
|
NM_021930.6(RINT1):c.839+5C>T
|
rs1026023752
|
|
NM_021930.6(RINT1):c.839_839+2dup
|
|
|
NM_021930.6(RINT1):c.840-2A>C
|
|
|
NM_021930.6(RINT1):c.843T>A (p.Asp281Glu)
|
|
|
NM_021930.6(RINT1):c.844G>A (p.Glu282Lys)
|
|
|
NM_021930.6(RINT1):c.84G>C (p.Glu28Asp)
|
rs1060504807
|
|
NM_021930.6(RINT1):c.850C>A (p.Leu284Ile)
|
rs1790782018
|
|
NM_021930.6(RINT1):c.850C>G (p.Leu284Val)
|
rs1790782018
|
|
NM_021930.6(RINT1):c.854C>A (p.Thr285Asn)
|
|
|
NM_021930.6(RINT1):c.856G>A (p.Glu286Lys)
|
|
|
NM_021930.6(RINT1):c.857A>G (p.Glu286Gly)
|
|
|
NM_021930.6(RINT1):c.866A>G (p.Gln289Arg)
|
rs747465384
|
|
NM_021930.6(RINT1):c.86A>G (p.Lys29Arg)
|
|
|
NM_021930.6(RINT1):c.879A>C (p.Lys293Asn)
|
|
|
NM_021930.6(RINT1):c.88+3A>G
|
rs781273192
|
|
NM_021930.6(RINT1):c.88+6C>G
|
|
|
NM_021930.6(RINT1):c.881A>G (p.Tyr294Cys)
|
|
|
NM_021930.6(RINT1):c.883T>A (p.Ser295Thr)
|
rs1356970011
|
|
NM_021930.6(RINT1):c.883T>C (p.Ser295Pro)
|
|
|
NM_021930.6(RINT1):c.883T>G (p.Ser295Ala)
|
|
|
NM_021930.6(RINT1):c.889C>T (p.Pro297Ser)
|
rs923511488
|
|
NM_021930.6(RINT1):c.89-3T>C
|
rs2133357775
|
|
NM_021930.6(RINT1):c.892G>A (p.Ala298Thr)
|
rs1790785723
|
|
NM_021930.6(RINT1):c.895T>G (p.Ser299Ala)
|
|
|
NM_021930.6(RINT1):c.896C>G (p.Ser299Cys)
|
rs2133393551
|
|
NM_021930.6(RINT1):c.899C>T (p.Pro300Leu)
|
rs1790786337
|
|
NM_021930.6(RINT1):c.8C>T (p.Pro3Leu)
|
|
|
NM_021930.6(RINT1):c.907A>G (p.Ile303Val)
|
|
|
NM_021930.6(RINT1):c.907A>T (p.Ile303Phe)
|
|
|
NM_021930.6(RINT1):c.914_928del (p.Pro305_Met309del)
|
|
|
NM_021930.6(RINT1):c.916A>T (p.Ile306Phe)
|
|
|
NM_021930.6(RINT1):c.922G>C (p.Val308Leu)
|
|
|
NM_021930.6(RINT1):c.923T>G (p.Val308Gly)
|
|
|
NM_021930.6(RINT1):c.928C>G (p.Leu310Val)
|
rs1790788106
|
|
NM_021930.6(RINT1):c.934C>T (p.Pro312Ser)
|
rs1157330836
|
|
NM_021930.6(RINT1):c.943A>G (p.Lys315Glu)
|
|
|
NM_021930.6(RINT1):c.948G>A (p.Arg316=)
|
|
|
NM_021930.6(RINT1):c.948G>T (p.Arg316Ser)
|
|
|
NM_021930.6(RINT1):c.94A>G (p.Ile32Val)
|
rs1586216168
|
|
NM_021930.6(RINT1):c.952A>G (p.Arg318Gly)
|
rs1790789595
|
|
NM_021930.6(RINT1):c.954del (p.Arg318fs)
|
|
|
NM_021930.6(RINT1):c.955T>A (p.Tyr319Asn)
|
|
|
NM_021930.6(RINT1):c.956A>G (p.Tyr319Cys)
|
|
|
NM_021930.6(RINT1):c.965G>C (p.Arg322Thr)
|
|
|
NM_021930.6(RINT1):c.965G>T (p.Arg322Ile)
|
|
|
NM_021930.6(RINT1):c.967G>C (p.Gly323Arg)
|
|
|
NM_021930.6(RINT1):c.977A>G (p.Gln326Arg)
|
|
|
NM_021930.6(RINT1):c.97A>C (p.Asn33His)
|
rs2133357802
|
|
NM_021930.6(RINT1):c.982_984del (p.Asn328del)
|
|
|
NM_021930.6(RINT1):c.985G>A (p.Val329Met)
|
rs1213803824
|
|
NM_021930.6(RINT1):c.996+5G>A
|
|
|
NM_021930.6(RINT1):c.998C>T (p.Pro333Leu)
|
|
|