NM_001114753.3(ENG):c.1374A>G (p.Pro458=)
|
rs34828244
|
0.00879
|
NM_001114753.3(ENG):c.1452C>T (p.Ser484=)
|
rs115450389
|
0.00311
|
NM_001114753.3(ENG):c.1510G>A (p.Val504Met)
|
rs116330805
|
0.00311
|
NM_001114753.3(ENG):c.1419C>T (p.Ser473=)
|
rs561818608
|
0.00087
|
NM_001114753.3(ENG):c.1407G>A (p.Pro469=)
|
rs41302657
|
0.00048
|
NM_001114753.3(ENG):c.1455G>A (p.Glu485=)
|
rs150456852
|
0.00046
|
NM_001114753.3(ENG):c.1233C>T (p.Ser411=)
|
rs137870512
|
0.00043
|
NM_001114753.3(ENG):c.1633G>A (p.Gly545Ser)
|
rs142896669
|
0.00037
|
NM_001114753.3(ENG):c.1447G>A (p.Val483Ile)
|
rs141330288
|
0.00034
|
NM_001114753.3(ENG):c.1258A>G (p.Met420Val)
|
rs143724056
|
0.00029
|
NM_001114753.3(ENG):c.1533G>A (p.Ala511=)
|
rs140760635
|
0.00027
|
NM_001114753.3(ENG):c.1312-12G>A
|
rs201684408
|
0.00026
|
NM_001114753.3(ENG):c.1742-13C>T
|
rs373611252
|
0.00021
|
NM_001114753.3(ENG):c.1686+6T>G
|
rs369766351
|
0.00019
|
NM_001114753.3(ENG):c.1637C>T (p.Thr546Ile)
|
rs372453075
|
0.00013
|
NM_001114753.3(ENG):c.1135-8C>T
|
rs79426098
|
0.00011
|
NM_001114753.3(ENG):c.1135-7G>A
|
rs201359896
|
0.00008
|
NM_001114753.3(ENG):c.1259T>C (p.Met420Thr)
|
rs766272638
|
0.00008
|
NM_001114753.3(ENG):c.1712G>A (p.Arg571His)
|
rs138799379
|
0.00007
|
NM_001114753.3(ENG):c.1446C>T (p.Ser482=)
|
rs143945873
|
0.00006
|
NM_001114753.3(ENG):c.1695T>C (p.His565=)
|
rs750637713
|
0.00006
|
NM_001114753.3(ENG):c.1252G>C (p.Ala418Pro)
|
rs150293362
|
0.00005
|
NM_001114753.3(ENG):c.1273-4G>A
|
rs373308042
|
0.00005
|
NM_001114753.3(ENG):c.1316A>C (p.Lys439Thr)
|
rs368533266
|
0.00005
|
NM_001114753.3(ENG):c.1632C>T (p.Thr544=)
|
rs117510900
|
0.00005
|
NM_001114753.3(ENG):c.1711C>T (p.Arg571Cys)
|
rs764262721
|
0.00005
|
NM_001114753.3(ENG):c.1312-13C>T
|
rs770902350
|
0.00004
|
NM_001114753.3(ENG):c.1389C>T (p.Ala463=)
|
rs200168633
|
0.00004
|
NM_001114753.3(ENG):c.1437G>A (p.Val479=)
|
rs754600063
|
0.00004
|
NM_001114753.3(ENG):c.1682A>C (p.Asp561Ala)
|
rs375965489
|
0.00004
|
NM_001114753.3(ENG):c.1686+18C>T
|
rs767620198
|
0.00004
|
NM_001114753.3(ENG):c.1686+19G>A
|
rs201163068
|
0.00004
|
NM_001114753.3(ENG):c.1742-15G>A
|
rs201678228
|
0.00004
|
NM_001114753.3(ENG):c.1299A>G (p.Ser433=)
|
rs762387524
|
0.00003
|
NM_001114753.3(ENG):c.1323C>T (p.His441=)
|
rs751203937
|
0.00003
|
NM_001114753.3(ENG):c.1671C>T (p.Thr557=)
|
rs369135742
|
0.00003
|
NM_001114753.3(ENG):c.1672G>A (p.Gly558Arg)
|
rs373230507
|
0.00003
|
NM_001114753.3(ENG):c.1135C>G (p.His379Asp)
|
rs771599199
|
0.00002
|
NM_001114753.3(ENG):c.1154C>T (p.Thr385Met)
|
rs199764615
|
0.00002
|
NM_001114753.3(ENG):c.1155G>A (p.Thr385=)
|
rs770249062
|
0.00002
|
NM_001114753.3(ENG):c.1217G>A (p.Arg406His)
|
rs149065210
|
0.00002
|
NM_001114753.3(ENG):c.1311+6A>G
|
rs1060501416
|
0.00002
|
NM_001114753.3(ENG):c.1529G>A (p.Arg510Gln)
|
rs199629212
|
0.00002
|
NM_001114753.3(ENG):c.1538A>G (p.Lys513Arg)
|
rs765564489
|
0.00002
|
NM_001114753.3(ENG):c.1572C>T (p.Pro524=)
|
rs760682477
|
0.00002
|
NM_001114753.3(ENG):c.1710G>T (p.Met570Ile)
|
rs757511675
|
0.00002
|
NM_001114753.3(ENG):c.1195A>G (p.Arg399Gly)
|
rs1315317848
|
0.00001
|
NM_001114753.3(ENG):c.1273-5C>T
|
rs779103881
|
0.00001
|
NM_001114753.3(ENG):c.1274C>T (p.Ala425Val)
|
rs369997021
|
0.00001
|
NM_001114753.3(ENG):c.1275G>A (p.Ala425=)
|
rs963830488
|
0.00001
|
NM_001114753.3(ENG):c.1293G>A (p.Ser431=)
|
rs774036076
|
0.00001
|
NM_001114753.3(ENG):c.1295G>C (p.Ser432Thr)
|
rs763594769
|
0.00001
|
NM_001114753.3(ENG):c.1306C>T (p.Gln436Ter)
|
rs1554809450
|
0.00001
|
NM_001114753.3(ENG):c.1309C>T (p.Arg437Trp)
|
rs1434169817
|
0.00001
|
NM_001114753.3(ENG):c.1312-10C>T
|
rs1830401278
|
0.00001
|
NM_001114753.3(ENG):c.1313A>G (p.Lys438Arg)
|
rs755962839
|
0.00001
|
NM_001114753.3(ENG):c.1314A>G (p.Lys438=)
|
rs750412250
|
0.00001
|
NM_001114753.3(ENG):c.1327C>G (p.Leu443Val)
|
rs375171647
|
0.00001
|
NM_001114753.3(ENG):c.1335G>A (p.Met445Ile)
|
rs777564305
|
0.00001
|
NM_001114753.3(ENG):c.1390T>A (p.Ser464Thr)
|
rs748457491
|
0.00001
|
NM_001114753.3(ENG):c.1402G>C (p.Glu468Gln)
|
rs370554511
|
0.00001
|
NM_001114753.3(ENG):c.1406C>T (p.Pro469Leu)
|
rs367753784
|
0.00001
|
NM_001114753.3(ENG):c.1408G>C (p.Gly470Arg)
|
rs756263325
|
0.00001
|
NM_001114753.3(ENG):c.1428+18C>A
|
rs1399497751
|
0.00001
|
NM_001114753.3(ENG):c.1428+5C>G
|
rs1564452925
|
0.00001
|
NM_001114753.3(ENG):c.1429-5T>C
|
rs777525174
|
0.00001
|
NM_001114753.3(ENG):c.1429-9C>T
|
rs370836025
|
0.00001
|
NM_001114753.3(ENG):c.1480C>G (p.His494Asp)
|
rs775718026
|
0.00001
|
NM_001114753.3(ENG):c.1528C>T (p.Arg510Trp)
|
rs201517535
|
0.00001
|
NM_001114753.3(ENG):c.1584G>A (p.Pro528=)
|
rs189572386
|
0.00001
|
NM_001114753.3(ENG):c.1585C>T (p.Arg529Cys)
|
rs745316066
|
0.00001
|
NM_001114753.3(ENG):c.1592G>A (p.Ser531Asn)
|
rs780884220
|
0.00001
|
NM_001114753.3(ENG):c.1611C>T (p.Tyr537=)
|
rs570296266
|
0.00001
|
NM_001114753.3(ENG):c.1650G>A (p.Thr550=)
|
rs1425275422
|
0.00001
|
NM_001114753.3(ENG):c.1687-7C>T
|
rs756527693
|
0.00001
|
NM_001114753.3(ENG):c.1696A>G (p.Arg566Gly)
|
rs1428529909
|
0.00001
|
NM_001114753.3(ENG):c.1702G>A (p.Val568Ile)
|
rs781201877
|
0.00001
|
NM_001114753.3(ENG):c.1730C>G (p.Pro577Arg)
|
rs759341808
|
0.00001
|
NC_000009.12:g.(?_127815012)_(127854773_?)del
|
|
|
NC_000009.12:g.(?_127815662)_(127820057_?)del
|
|
|
NC_000009.12:g.(?_127819602)_(127820057_?)del
|
|
|
NC_000009.12:g.(?_127819612)_(127820047_?)del
|
|
|
NC_000009.12:g.(?_127819616)_(127820043_?)del
|
|
|
NC_000009.12:g.(?_127819622)_(127820037_?)del
|
|
|
NM_000118.3(ENG):c.1687delG
|
rs1564452075
|
|
NM_000118.3(ENG):c.1689_1699del (p.Glu563Aspfs)
|
rs1830345043
|
|
NM_001114753.3(ENG):c.1135-10del
|
|
|
NM_001114753.3(ENG):c.1135-15del
|
|
|
NM_001114753.3(ENG):c.1135-20G>A
|
|
|
NM_001114753.3(ENG):c.1135-4C>T
|
|
|
NM_001114753.3(ENG):c.1135C>A (p.His379Asn)
|
rs771599199
|
|
NM_001114753.3(ENG):c.1139del (p.His379_Leu380insTer)
|
rs2131879372
|
|
NM_001114753.3(ENG):c.1145G>A (p.Cys382Tyr)
|
rs1131691931
|
|
NM_001114753.3(ENG):c.1151T>C (p.Ile384Thr)
|
rs2131879350
|
|
NM_001114753.3(ENG):c.1152C>T (p.Ile384=)
|
|
|
NM_001114753.3(ENG):c.1153A>C (p.Thr385Pro)
|
rs1830434864
|
|
NM_001114753.3(ENG):c.1153A>G (p.Thr385Ala)
|
rs1830434864
|
|
NM_001114753.3(ENG):c.1160T>C (p.Leu387Pro)
|
rs1564453623
|
|
NM_001114753.3(ENG):c.1161G>C (p.Leu387=)
|
|
|
NM_001114753.3(ENG):c.1166_1168del (p.Phe389del)
|
rs1588577016
|
|
NM_001114753.3(ENG):c.1169G>A (p.Trp390Ter)
|
rs1564453619
|
|
NM_001114753.3(ENG):c.1170G>A (p.Trp390Ter)
|
|
|
NM_001114753.3(ENG):c.1171G>C (p.Asp391His)
|
rs1830434474
|
|
NM_001114753.3(ENG):c.1172A>G (p.Asp391Gly)
|
rs2131879297
|
|
NM_001114753.3(ENG):c.1175_1176del (p.Pro392fs)
|
|
|
NM_001114753.3(ENG):c.1176del (p.Ser393fs)
|
|
|
NM_001114753.3(ENG):c.1177A>G (p.Ser393Gly)
|
rs781518626
|
|
NM_001114753.3(ENG):c.1180T>C (p.Cys394Arg)
|
|
|
NM_001114753.3(ENG):c.1181G>A (p.Cys394Tyr)
|
rs1830434129
|
|
NM_001114753.3(ENG):c.1195_1196del (p.Arg399fs)
|
rs1131691422
|
|
NM_001114753.3(ENG):c.1195del (p.Arg399fs)
|
rs1131691444
|
|
NM_001114753.3(ENG):c.1197G>C (p.Arg399Ser)
|
rs1418330913
|
|
NM_001114753.3(ENG):c.1199del (p.Gly400fs)
|
rs1060501422
|
|
NM_001114753.3(ENG):c.1200T>C (p.Gly400=)
|
rs1306446029
|
|
NM_001114753.3(ENG):c.1203C>T (p.Asp401=)
|
rs2131879238
|
|
NM_001114753.3(ENG):c.1208T>C (p.Phe403Ser)
|
rs1830433526
|
|
NM_001114753.3(ENG):c.1209T>C (p.Phe403=)
|
|
|
NM_001114753.3(ENG):c.1209dup (p.Val404fs)
|
rs2131879220
|
|
NM_001114753.3(ENG):c.1214T>C (p.Leu405Ser)
|
|
|
NM_001114753.3(ENG):c.1215G>A (p.Leu405=)
|
|
|
NM_001114753.3(ENG):c.1216C>G (p.Arg406Gly)
|
rs751787590
|
|
NM_001114753.3(ENG):c.1216C>T (p.Arg406Cys)
|
rs751787590
|
|
NM_001114753.3(ENG):c.1218C>T (p.Arg406=)
|
|
|
NM_001114753.3(ENG):c.1220G>A (p.Ser407Asn)
|
rs1554809516
|
|
NM_001114753.3(ENG):c.1223C>T (p.Ala408Val)
|
|
|
NM_001114753.3(ENG):c.1230C>T (p.Ser410=)
|
|
|
NM_001114753.3(ENG):c.1234T>G (p.Cys412Gly)
|
rs1830432884
|
|
NM_001114753.3(ENG):c.1235G>A (p.Cys412Tyr)
|
rs1554809513
|
|
NM_001114753.3(ENG):c.1236T>A (p.Cys412Ter)
|
rs1830432773
|
|
NM_001114753.3(ENG):c.1236_1687-77del
|
|
|
NM_001114753.3(ENG):c.1238del (p.Gly413fs)
|
rs1830432717
|
|
NM_001114753.3(ENG):c.1241T>A (p.Met414Lys)
|
rs1830432509
|
|
NM_001114753.3(ENG):c.1241T>C (p.Met414Thr)
|
rs1830432509
|
|
NM_001114753.3(ENG):c.1241T>G (p.Met414Arg)
|
rs1830432509
|
|
NM_001114753.3(ENG):c.1242G>C (p.Met414Ile)
|
|
|
NM_001114753.3(ENG):c.1247dup (p.Ser417fs)
|
rs1588576923
|
|
NM_001114753.3(ENG):c.1256G>C (p.Ser419Thr)
|
|
|
NM_001114753.3(ENG):c.1263C>G (p.Ile421Met)
|
rs760446518
|
|
NM_001114753.3(ENG):c.1268del (p.Asn423fs)
|
rs1564453538
|
|
NM_001114753.3(ENG):c.1270dup (p.Glu424fs)
|
|
|
NM_001114753.3(ENG):c.1271A>T (p.Glu424Val)
|
|
|
NM_001114753.3(ENG):c.1272+10G>A
|
|
|
NM_001114753.3(ENG):c.1272+13G>T
|
|
|
NM_001114753.3(ENG):c.1272+14C>G
|
rs1211943511
|
|
NM_001114753.3(ENG):c.1272+16A>C
|
rs1271187725
|
|
NM_001114753.3(ENG):c.1272+20del
|
|
|
NM_001114753.3(ENG):c.1272+2dup
|
|
|
NM_001114753.3(ENG):c.1272+8C>A
|
rs1273740782
|
|
NM_001114753.3(ENG):c.1273-10A>G
|
rs2131878677
|
|
NM_001114753.3(ENG):c.1273-14C>G
|
|
|
NM_001114753.3(ENG):c.1273-14C>T
|
|
|
NM_001114753.3(ENG):c.1273-15_1273-8dup
|
rs1588576650
|
|
NM_001114753.3(ENG):c.1273-18C>T
|
|
|
NM_001114753.3(ENG):c.1273-19C>T
|
|
|
NM_001114753.3(ENG):c.1273-21_1273-20delinsAT
|
|
|
NM_001114753.3(ENG):c.1273-2A>G
|
rs373842615
|
|
NM_001114753.3(ENG):c.1273-4_1273-3delinsAA
|
rs1830425770
|
|
NM_001114753.3(ENG):c.1273G>A (p.Ala425Thr)
|
|
|
NM_001114753.3(ENG):c.1274C>A (p.Ala425Glu)
|
rs369997021
|
|
NM_001114753.3(ENG):c.1276G>A (p.Val426Met)
|
rs1830425455
|
|
NM_001114753.3(ENG):c.1276_1279delinsATAAA (p.Val426fs)
|
rs1830425406
|
|
NM_001114753.3(ENG):c.1278G>A (p.Val426=)
|
|
|
NM_001114753.3(ENG):c.1278G>C (p.Val426=)
|
|
|
NM_001114753.3(ENG):c.1286dup (p.Leu430fs)
|
rs1554809455
|
|
NM_001114753.3(ENG):c.1290G>A (p.Leu430=)
|
|
|
NM_001114753.3(ENG):c.1290G>T (p.Leu430=)
|
rs377321205
|
|
NM_001114753.3(ENG):c.1292C>A (p.Ser431Ter)
|
rs761353511
|
|
NM_001114753.3(ENG):c.1292C>T (p.Ser431Leu)
|
rs761353511
|
|
NM_001114753.3(ENG):c.1295G>A (p.Ser432Asn)
|
rs763594769
|
|
NM_001114753.3(ENG):c.1300T>A (p.Ser434Thr)
|
|
|
NM_001114753.3(ENG):c.1301C>G (p.Ser434Ter)
|
|
|
NM_001114753.3(ENG):c.1302A>G (p.Ser434=)
|
rs1588576596
|
|
NM_001114753.3(ENG):c.1309C>G (p.Arg437Gly)
|
|
|
NM_001114753.3(ENG):c.1310G>A (p.Arg437Gln)
|
|
|
NM_001114753.3(ENG):c.1311+13G>A
|
|
|
NM_001114753.3(ENG):c.1311+15C>T
|
|
|
NM_001114753.3(ENG):c.1311+18G>A
|
|
|
NM_001114753.3(ENG):c.1311+1G>A
|
|
|
NM_001114753.3(ENG):c.1311+1dup
|
rs1554809446
|
|
NM_001114753.3(ENG):c.1311+2T>A
|
|
|
NM_001114753.3(ENG):c.1311+2T>C
|
|
|
NM_001114753.3(ENG):c.1311+5G>A
|
rs1830423993
|
|
NM_001114753.3(ENG):c.1311+89C>T
|
rs368202311
|
|
NM_001114753.3(ENG):c.1311G>A (p.Arg437=)
|
rs1554809448
|
|
NM_001114753.3(ENG):c.1311G>C (p.Arg437=)
|
rs1554809448
|
|
NM_001114753.3(ENG):c.1311G>T (p.Arg437=)
|
rs1554809448
|
|
NM_001114753.3(ENG):c.1312-16T>G
|
|
|
NM_001114753.3(ENG):c.1312-16_1312-13del
|
rs1276298912
|
|
NM_001114753.3(ENG):c.1312-19C>T
|
|
|
NM_001114753.3(ENG):c.1312-1G>C
|
rs2131877148
|
|
NM_001114753.3(ENG):c.1312-20T>C
|
rs1448646670
|
|
NM_001114753.3(ENG):c.1312-3C>G
|
rs2131877153
|
|
NM_001114753.3(ENG):c.1312-4C>G
|
rs2131877165
|
|
NM_001114753.3(ENG):c.1312A>T (p.Lys438Ter)
|
rs863223536
|
|
NM_001114753.3(ENG):c.1317G>C (p.Lys439Asn)
|
|
|
NM_001114753.3(ENG):c.1319T>G (p.Val440Gly)
|
rs1554809363
|
|
NM_001114753.3(ENG):c.1326C>A (p.Cys442Ter)
|
rs1554809361
|
|
NM_001114753.3(ENG):c.1327del (p.Leu443fs)
|
rs1060501413
|
|
NM_001114753.3(ENG):c.1333dup (p.Met445fs)
|
rs1830399696
|
|
NM_001114753.3(ENG):c.1336G>A (p.Asp446Asn)
|
rs1830399300
|
|
NM_001114753.3(ENG):c.1336G>T (p.Asp446Tyr)
|
|
|
NM_001114753.3(ENG):c.1338C>T (p.Asp446=)
|
|
|
NM_001114753.3(ENG):c.1346_1347del (p.Ser449fs)
|
rs1564453019
|
|
NM_001114753.3(ENG):c.1347_1350del (p.Phe450fs)
|
rs2131877041
|
|
NM_001114753.3(ENG):c.1350C>T (p.Phe450=)
|
|
|
NM_001114753.3(ENG):c.1351C>T (p.Gln451Ter)
|
rs1554809355
|
|
NM_001114753.3(ENG):c.1357G>C (p.Gly453Arg)
|
rs1830398628
|
|
NM_001114753.3(ENG):c.1358del (p.Gly453fs)
|
|
|
NM_001114753.3(ENG):c.1361T>C (p.Leu454Pro)
|
|
|
NM_001114753.3(ENG):c.1363_1364insC (p.Tyr455fs)
|
rs1064793889
|
|
NM_001114753.3(ENG):c.1365C>A (p.Tyr455Ter)
|
rs774943840
|
|
NM_001114753.3(ENG):c.1365C>T (p.Tyr455=)
|
|
|
NM_001114753.3(ENG):c.1369dup (p.Ser457fs)
|
|
|
NM_001114753.3(ENG):c.1381_1384del (p.Leu461fs)
|
|
|
NM_001114753.3(ENG):c.1385A>G (p.Gln462Arg)
|
rs2131876977
|
|
NM_001114753.3(ENG):c.1393A>G (p.Asn465Asp)
|
rs1830397241
|
|
NM_001114753.3(ENG):c.1394dup (p.Asn465fs)
|
rs1554809348
|
|
NM_001114753.3(ENG):c.1401C>T (p.Ile467=)
|
|
|
NM_001114753.3(ENG):c.1402G>A (p.Glu468Lys)
|
|
|
NM_001114753.3(ENG):c.1402G>T (p.Glu468Ter)
|
|
|
NM_001114753.3(ENG):c.1410del (p.Gln471fs)
|
rs1085307433
|
|
NM_001114753.3(ENG):c.1411C>T (p.Gln471Ter)
|
rs1830395639
|
|
NM_001114753.3(ENG):c.1414C>G (p.Gln472Glu)
|
|
|
NM_001114753.3(ENG):c.1414C>T (p.Gln472Ter)
|
|
|
NM_001114753.3(ENG):c.1415_1417delinsGT (p.Gln472fs)
|
rs1554809331
|
|
NM_001114753.3(ENG):c.1415_1424del (p.Gln472fs)
|
rs1060501412
|
|
NM_001114753.3(ENG):c.1419C>G (p.Ser473Arg)
|
rs561818608
|
|
NM_001114753.3(ENG):c.1426C>T (p.Gln476Ter)
|
rs965119099
|
|
NM_001114753.3(ENG):c.1427A>G (p.Gln476Arg)
|
rs1830394955
|
|
NM_001114753.3(ENG):c.1427A>T (p.Gln476Leu)
|
rs1830394955
|
|
NM_001114753.3(ENG):c.1428+11T>C
|
|
|
NM_001114753.3(ENG):c.1428+1G>A
|
rs863223542
|
|
NM_001114753.3(ENG):c.1428+20C>A
|
|
|
NM_001114753.3(ENG):c.1428+2T>A
|
rs863223543
|
|
NM_001114753.3(ENG):c.1428+2T>C
|
rs863223543
|
|
NM_001114753.3(ENG):c.1428+5C>A
|
rs1564452925
|
|
NM_001114753.3(ENG):c.1428+8G>A
|
rs2131876799
|
|
NM_001114753.3(ENG):c.1429-16C>T
|
|
|
NM_001114753.3(ENG):c.1429-1G>C
|
rs2131876244
|
|
NM_001114753.3(ENG):c.1429-23_1429-1del
|
|
|
NM_001114753.3(ENG):c.1429-2A>G
|
rs1564452759
|
|
NM_001114753.3(ENG):c.1429-3C>T
|
|
|
NM_001114753.3(ENG):c.1429-6A>G
|
|
|
NM_001114753.3(ENG):c.1429-8C>G
|
rs376169815
|
|
NM_001114753.3(ENG):c.1429-8C>T
|
|
|
NM_001114753.3(ENG):c.1429-9_1429-6dup
|
rs762494923
|
|
NM_001114753.3(ENG):c.1434A>T (p.Arg478Ser)
|
rs778561832
|
|
NM_001114753.3(ENG):c.1434_1435del (p.Arg478fs)
|
rs1564452747
|
|
NM_001114753.3(ENG):c.1440C>A (p.Ser480=)
|
rs1588575160
|
|
NM_001114753.3(ENG):c.1441C>T (p.Pro481Ser)
|
rs1554809289
|
|
NM_001114753.3(ENG):c.1450_1451del (p.Ser484fs)
|
rs1830385865
|
|
NM_001114753.3(ENG):c.1453G>A (p.Glu485Lys)
|
|
|
NM_001114753.3(ENG):c.1453G>T (p.Glu485Ter)
|
rs997074986
|
|
NM_001114753.3(ENG):c.1456T>C (p.Phe486Leu)
|
rs1830385483
|
|
NM_001114753.3(ENG):c.1465C>T (p.Gln489Ter)
|
rs1057521648
|
|
NM_001114753.3(ENG):c.1469T>C (p.Leu490Ser)
|
rs763475207
|
|
NM_001114753.3(ENG):c.1470dup (p.Asp491fs)
|
rs1830385077
|
|
NM_001114753.3(ENG):c.1472_1475del (p.Asp491fs)
|
rs1830384910
|
|
NM_001114753.3(ENG):c.1478G>T (p.Cys493Phe)
|
|
|
NM_001114753.3(ENG):c.1485G>A (p.Leu495=)
|
rs2131876068
|
|
NM_001114753.3(ENG):c.1486G>A (p.Asp496Asn)
|
rs2131876065
|
|
NM_001114753.3(ENG):c.1490T>A (p.Leu497Ter)
|
rs1830384447
|
|
NM_001114753.3(ENG):c.1497T>C (p.Pro499=)
|
|
|
NM_001114753.3(ENG):c.1502G>A (p.Gly501Glu)
|
rs2131876010
|
|
NM_001114753.3(ENG):c.1509C>T (p.Thr503=)
|
|
|
NM_001114753.3(ENG):c.1509del (p.Val504fs)
|
rs1564452685
|
|
NM_001114753.3(ENG):c.1512G>A (p.Val504=)
|
rs2131875976
|
|
NM_001114753.3(ENG):c.1515del (p.Glu505fs)
|
|
|
NM_001114753.3(ENG):c.1515dup (p.Leu506fs)
|
rs1564452667
|
|
NM_001114753.3(ENG):c.1517T>A (p.Leu506His)
|
rs778594104
|
|
NM_001114753.3(ENG):c.1530G>A (p.Arg510=)
|
rs1225393890
|
|
NM_001114753.3(ENG):c.1531del (p.Ala511fs)
|
rs2131875912
|
|
NM_001114753.3(ENG):c.1532C>A (p.Ala511Glu)
|
|
|
NM_001114753.3(ENG):c.1532C>T (p.Ala511Val)
|
|
|
NM_001114753.3(ENG):c.1534G>A (p.Ala512Thr)
|
rs2131875889
|
|
NM_001114753.3(ENG):c.1541del (p.Gly514fs)
|
rs1554809268
|
|
NM_001114753.3(ENG):c.1550_1551del (p.Val517fs)
|
rs863223541
|
|
NM_001114753.3(ENG):c.1553_1554del (p.Ser518fs)
|
rs2131875838
|
|
NM_001114753.3(ENG):c.1554_1555del (p.Leu519fs)
|
rs886041325
|
|
NM_001114753.3(ENG):c.1559T>C (p.Leu520Pro)
|
rs2131875808
|
|
NM_001114753.3(ENG):c.1565C>T (p.Pro522Leu)
|
rs929266862
|
|
NM_001114753.3(ENG):c.1572del (p.Glu525fs)
|
rs2131875783
|
|
NM_001114753.3(ENG):c.1573G>A (p.Glu525Lys)
|
|
|
NM_001114753.3(ENG):c.1583C>G (p.Pro528Arg)
|
|
|
NM_001114753.3(ENG):c.1583dup (p.Arg529fs)
|
|
|
NM_001114753.3(ENG):c.1586G>A (p.Arg529His)
|
rs863223538
|
|
NM_001114753.3(ENG):c.1600C>T (p.Leu534Phe)
|
|
|
NM_001114753.3(ENG):c.1603_1608del (p.His535_Phe536del)
|
|
|
NM_001114753.3(ENG):c.1612A>G (p.Thr538Ala)
|
|
|
NM_001114753.3(ENG):c.1618_1627del (p.Pro540fs)
|
|
|
NM_001114753.3(ENG):c.1620C>G (p.Pro540=)
|
rs1163127969
|
|
NM_001114753.3(ENG):c.1626dup (p.Lys543fs)
|
rs1830377451
|
|
NM_001114753.3(ENG):c.1645T>A (p.Cys549Ser)
|
rs1830376644
|
|
NM_001114753.3(ENG):c.1645T>G (p.Cys549Gly)
|
rs1830376644
|
|
NM_001114753.3(ENG):c.1646G>A (p.Cys549Tyr)
|
rs1060501421
|
|
NM_001114753.3(ENG):c.1648A>C (p.Thr550Pro)
|
|
|
NM_001114753.3(ENG):c.1655C>A (p.Ala552Asp)
|
|
|
NM_001114753.3(ENG):c.1655C>T (p.Ala552Val)
|
|
|
NM_001114753.3(ENG):c.1657del (p.Leu553fs)
|
rs1064794218
|
|
NM_001114753.3(ENG):c.1660C>T (p.Arg554Cys)
|
|
|
NM_001114753.3(ENG):c.1661G>A (p.Arg554His)
|
|
|
NM_001114753.3(ENG):c.1664C>A (p.Pro555His)
|
|
|
NM_001114753.3(ENG):c.1672_1684del (p.Gly558fs)
|
rs1554809229
|
|
NM_001114753.3(ENG):c.1673G>A (p.Gly558Glu)
|
|
|
NM_001114753.3(ENG):c.1674G>C (p.Gly558=)
|
rs2131875527
|
|
NM_001114753.3(ENG):c.1675del (p.Ser559fs)
|
rs1830375325
|
|
NM_001114753.3(ENG):c.1675dup (p.Ser559fs)
|
rs2131875524
|
|
NM_001114753.3(ENG):c.1678C>T (p.Gln560Ter)
|
rs1830375228
|
|
NM_001114753.3(ENG):c.1682A>G (p.Asp561Gly)
|
rs375965489
|
|
NM_001114753.3(ENG):c.1684C>T (p.Gln562Ter)
|
rs1588574749
|
|
NM_001114753.3(ENG):c.1685A>C (p.Gln562Pro)
|
|
|
NM_001114753.3(ENG):c.1686+15G>A
|
|
|
NM_001114753.3(ENG):c.1686+1G>A
|
rs1554809228
|
|
NM_001114753.3(ENG):c.1686+5G>A
|
rs1830374353
|
|
NM_001114753.3(ENG):c.1686+8G>A
|
rs372670034
|
|
NM_001114753.3(ENG):c.1686+8G>C
|
rs372670034
|
|
NM_001114753.3(ENG):c.1686+9G>C
|
rs754153231
|
|
NM_001114753.3(ENG):c.1686G>C (p.Gln562His)
|
|
|
NM_001114753.3(ENG):c.1687-15C>T
|
|
|
NM_001114753.3(ENG):c.1687-19CT[2]
|
rs566728279
|
|
NM_001114753.3(ENG):c.1687-19CT[3]
|
|
|
NM_001114753.3(ENG):c.1687-1G>A
|
rs1554809106
|
|
NM_001114753.3(ENG):c.1687-1G>T
|
rs1554809106
|
|
NM_001114753.3(ENG):c.1687-2A>G
|
rs2131873933
|
|
NM_001114753.3(ENG):c.1687G>T (p.Glu563Ter)
|
rs2131873923
|
|
NM_001114753.3(ENG):c.1695T>A (p.His565Gln)
|
rs750637713
|
|
NM_001114753.3(ENG):c.1695T>G (p.His565Gln)
|
|
|
NM_001114753.3(ENG):c.1695del (p.His565fs)
|
rs1830345505
|
|
NM_001114753.3(ENG):c.1698G>A (p.Arg566=)
|
rs1554809103
|
|
NM_001114753.3(ENG):c.1698del (p.Thr567fs)
|
rs1830345215
|
|
NM_001114753.3(ENG):c.1699A>G (p.Thr567Ala)
|
rs1554809101
|
|
NM_001114753.3(ENG):c.1704C>T (p.Val568=)
|
rs1830344643
|
|
NM_001114753.3(ENG):c.1709T>C (p.Met570Thr)
|
|
|
NM_001114753.3(ENG):c.1711C>A (p.Arg571Ser)
|
|
|
NM_001114753.3(ENG):c.1711C>G (p.Arg571Gly)
|
|
|
NM_001114753.3(ENG):c.1715T>A (p.Leu572Ter)
|
rs863223539
|
|
NM_001114753.3(ENG):c.1720A>G (p.Ile574Val)
|
|
|
NM_001114753.3(ENG):c.1721TCA[1] (p.Ile575del)
|
rs777038953
|
|
NM_001114753.3(ENG):c.1724T>C (p.Ile575Thr)
|
rs1284713532
|
|
NM_001114753.3(ENG):c.1725C>G (p.Ile575Met)
|
rs1333193699
|
|
NM_001114753.3(ENG):c.1726A>G (p.Ser576Gly)
|
rs1564452024
|
|
NM_001114753.3(ENG):c.1728C>A (p.Ser576Arg)
|
rs2131873779
|
|
NM_001114753.3(ENG):c.1733_1737del (p.Asp578fs)
|
|
|
NM_001114753.3(ENG):c.1734C>T (p.Asp578=)
|
|
|
NM_001114753.3(ENG):c.1738T>A (p.Ser580Thr)
|
|
|
NM_001114753.3(ENG):c.1741+10C>T
|
rs1554809082
|
|
NM_001114753.3(ENG):c.1741+79G>A
|
rs551082475
|
|
NM_001114753.3(ENG):c.1741+8C>A
|
|
|
NM_001114753.3(ENG):c.1742-16C>T
|
|
|
NM_001114753.3(ENG):c.1742-19T>C
|
|
|