NM_001114753.3(ENG):c.1844C>T (p.Ser615Leu)
|
rs148002300
|
0.00134
|
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.640G>A (p.Gly214Ser)
|
rs150932144
|
0.00034
|
NM_001114753.3(ENG):c.1258A>G (p.Met420Val)
|
rs143724056
|
0.00029
|
NM_001114753.3(ENG):c.1095C>T (p.Asp365=)
|
rs142803546
|
0.00026
|
NM_001114753.3(ENG):c.1312-12G>A
|
rs201684408
|
0.00026
|
NM_001114753.3(ENG):c.7C>T (p.Arg3Cys)
|
rs139334561
|
0.00024
|
NM_001114753.3(ENG):c.-120G>T
|
rs565259710
|
0.00022
|
NM_001114753.3(ENG):c.-70C>T
|
rs562538400
|
0.00020
|
NM_001114753.3(ENG):c.1686+6T>G
|
rs369766351
|
0.00019
|
NM_001114753.3(ENG):c.250G>C (p.Ala84Pro)
|
rs369456364
|
0.00019
|
NM_001114753.3(ENG):c.954G>A (p.Pro318=)
|
rs149590262
|
0.00019
|
NM_001114753.3(ENG):c.1134+9A>T
|
rs200780733
|
0.00018
|
NM_001114753.3(ENG):c.291G>C (p.Leu97=)
|
rs376641299
|
0.00016
|
NM_001114753.3(ENG):c.321G>T (p.Leu107=)
|
rs767907933
|
0.00015
|
NM_001114753.3(ENG):c.694C>T (p.Arg232Trp)
|
rs200372420
|
0.00014
|
NM_001114753.3(ENG):c.306C>T (p.Asn102=)
|
rs148098047
|
0.00012
|
NM_001114753.3(ENG):c.726C>T (p.Cys242=)
|
rs545465750
|
0.00012
|
NM_001114753.3(ENG):c.1135-8C>T
|
rs79426098
|
0.00011
|
NM_001114753.3(ENG):c.850G>A (p.Glu284Lys)
|
rs372045549
|
0.00010
|
NM_001114753.3(ENG):c.1015G>A (p.Ala339Thr)
|
rs761463410
|
0.00008
|
NM_001114753.3(ENG):c.1098C>T (p.Asp366=)
|
rs201497772
|
0.00008
|
NM_001114753.3(ENG):c.1259T>C (p.Met420Thr)
|
rs766272638
|
0.00008
|
NM_001114753.3(ENG):c.1852+21C>G
|
rs147188969
|
0.00008
|
NM_001114753.3(ENG):c.690-4G>A
|
rs762621671
|
0.00008
|
NM_001114753.3(ENG):c.121G>A (p.Glu41Lys)
|
rs199675436
|
0.00007
|
NM_001114753.3(ENG):c.1712G>A (p.Arg571His)
|
rs138799379
|
0.00007
|
NM_001114753.3(ENG):c.1762G>A (p.Val588Ile)
|
rs201768056
|
0.00007
|
NM_001114753.3(ENG):c.690-17C>T
|
rs199525659
|
0.00007
|
NM_001114753.3(ENG):c.1446C>T (p.Ser482=)
|
rs143945873
|
0.00006
|
NM_001114753.3(ENG):c.1852+42C>T
|
rs779974705
|
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.1632C>T (p.Thr544=)
|
rs117510900
|
0.00005
|
NM_001114753.3(ENG):c.1711C>T (p.Arg571Cys)
|
rs764262721
|
0.00005
|
NM_001114753.3(ENG):c.218C>T (p.Thr73Met)
|
rs200960408
|
0.00005
|
NM_001114753.3(ENG):c.654G>A (p.Ala218=)
|
rs773156160
|
0.00005
|
NM_001114753.3(ENG):c.1134+92G>A
|
rs1194091413
|
0.00004
|
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.1742-15G>A
|
rs201678228
|
0.00004
|
NM_001114753.3(ENG):c.1851G>A (p.Thr617=)
|
rs747344646
|
0.00004
|
NM_001114753.3(ENG):c.220-16C>T
|
rs748668677
|
0.00004
|
NM_001114753.3(ENG):c.413T>C (p.Leu138Pro)
|
rs546637270
|
0.00004
|
NM_001114753.3(ENG):c.596G>A (p.Arg199His)
|
rs548424658
|
0.00004
|
NM_001114753.3(ENG):c.705G>A (p.Thr235=)
|
rs755116051
|
0.00004
|
NM_001114753.3(ENG):c.747C>T (p.Ala249=)
|
rs557060922
|
0.00004
|
NM_001114753.3(ENG):c.817-27_817-26del
|
rs761699139
|
0.00004
|
NM_001114753.3(ENG):c.817-8A>G
|
rs753576292
|
0.00004
|
NM_001114753.3(ENG):c.9C>T (p.Arg3=)
|
rs752431673
|
0.00004
|
NM_001114753.3(ENG):c.1020G>A (p.Pro340=)
|
rs773748110
|
0.00003
|
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.242C>A (p.Thr81Asn)
|
rs1413416433
|
0.00003
|
NM_001114753.3(ENG):c.405C>G (p.Thr135=)
|
rs773521685
|
0.00003
|
NM_001114753.3(ENG):c.45C>G (p.Ala15=)
|
rs768137759
|
0.00003
|
NM_001114753.3(ENG):c.524-13C>T
|
rs756926952
|
0.00003
|
NM_001114753.3(ENG):c.524-14G>A
|
rs371420421
|
0.00003
|
NM_001114753.3(ENG):c.589C>T (p.Arg197Trp)
|
rs780987528
|
0.00003
|
NM_001114753.3(ENG):c.690-5C>T
|
rs374628465
|
0.00003
|
NM_001114753.3(ENG):c.900G>A (p.Leu300=)
|
rs140155568
|
0.00003
|
NM_001114753.3(ENG):c.999G>A (p.Arg333=)
|
rs371174838
|
0.00003
|
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.149C>T (p.Ser50Leu)
|
rs927607049
|
0.00002
|
NM_001114753.3(ENG):c.1529G>A (p.Arg510Gln)
|
rs199629212
|
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.1758C>T (p.Gly586=)
|
rs150566847
|
0.00002
|
NM_001114753.3(ENG):c.1806C>T (p.Ile602=)
|
rs373002544
|
0.00002
|
NM_001114753.3(ENG):c.1836C>T (p.Tyr612=)
|
rs1449770420
|
0.00002
|
NM_001114753.3(ENG):c.393G>A (p.Pro131=)
|
rs760121099
|
0.00002
|
NM_001114753.3(ENG):c.512G>A (p.Arg171Gln)
|
rs756980265
|
0.00002
|
NM_001114753.3(ENG):c.609G>C (p.Leu203Phe)
|
rs767850408
|
0.00002
|
NM_001114753.3(ENG):c.64A>G (p.Thr22Ala)
|
rs764472279
|
0.00002
|
NM_001114753.3(ENG):c.695G>A (p.Arg232Gln)
|
rs772467926
|
0.00002
|
NM_001114753.3(ENG):c.708G>A (p.Val236=)
|
rs780260845
|
0.00002
|
NM_001114753.3(ENG):c.722G>A (p.Ser241Asn)
|
rs1060501411
|
0.00002
|
NM_001114753.3(ENG):c.733G>A (p.Gly245Arg)
|
rs762569294
|
0.00002
|
NM_001114753.3(ENG):c.741C>T (p.Leu247=)
|
rs201457707
|
0.00002
|
NM_001114753.3(ENG):c.748G>A (p.Val250Ile)
|
rs759102482
|
0.00002
|
NM_001114753.3(ENG):c.774C>T (p.Tyr258=)
|
rs537154767
|
0.00002
|
NM_001114753.3(ENG):c.816+14A>G
|
rs774964688
|
0.00002
|
NM_001114753.3(ENG):c.990C>T (p.Cys330=)
|
rs369202854
|
0.00002
|
NM_001114753.3(ENG):c.1002G>A (p.Leu334=)
|
rs1416672742
|
0.00001
|
NM_001114753.3(ENG):c.1008C>T (p.Thr336=)
|
rs766675335
|
0.00001
|
NM_001114753.3(ENG):c.1014C>T (p.Pro338=)
|
rs1057522787
|
0.00001
|
NM_001114753.3(ENG):c.1055C>T (p.Pro352Leu)
|
rs1356571461
|
0.00001
|
NM_001114753.3(ENG):c.1056G>A (p.Pro352=)
|
rs769530262
|
0.00001
|
NM_001114753.3(ENG):c.1071C>T (p.Ser357=)
|
rs1305112426
|
0.00001
|
NM_001114753.3(ENG):c.1092C>T (p.Ala364=)
|
rs375427398
|
0.00001
|
NM_001114753.3(ENG):c.111C>T (p.Pro37=)
|
rs755626994
|
0.00001
|
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.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.1312-10C>T
|
rs1830401278
|
0.00001
|
NM_001114753.3(ENG):c.1327C>G (p.Leu443Val)
|
rs375171647
|
0.00001
|
NM_001114753.3(ENG):c.1390T>A (p.Ser464Thr)
|
rs748457491
|
0.00001
|
NM_001114753.3(ENG):c.1406C>T (p.Pro469Leu)
|
rs367753784
|
0.00001
|
NM_001114753.3(ENG):c.1428+18C>A
|
rs1399497751
|
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.1584G>A (p.Pro528=)
|
rs189572386
|
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.1702G>A (p.Val568Ile)
|
rs781201877
|
0.00001
|
NM_001114753.3(ENG):c.1742-10C>T
|
rs761244549
|
0.00001
|
NM_001114753.3(ENG):c.1771G>A (p.Ala591Thr)
|
rs200080694
|
0.00001
|
NM_001114753.3(ENG):c.1852+11C>T
|
rs1830300469
|
0.00001
|
NM_001114753.3(ENG):c.185T>A (p.Leu62His)
|
rs1060501424
|
0.00001
|
NM_001114753.3(ENG):c.208G>A (p.Glu70Lys)
|
rs1179814153
|
0.00001
|
NM_001114753.3(ENG):c.219+12dup
|
rs1448024285
|
0.00001
|
NM_001114753.3(ENG):c.219+19G>T
|
rs1348683648
|
0.00001
|
NM_001114753.3(ENG):c.344C>T (p.Pro115Leu)
|
rs146987480
|
0.00001
|
NM_001114753.3(ENG):c.354G>A (p.Leu118=)
|
rs772534014
|
0.00001
|
NM_001114753.3(ENG):c.361-5C>T
|
rs766201542
|
0.00001
|
NM_001114753.3(ENG):c.470C>T (p.Thr157Ile)
|
rs1388404555
|
0.00001
|
NM_001114753.3(ENG):c.48C>G (p.Ser16Arg)
|
rs540893029
|
0.00001
|
NM_001114753.3(ENG):c.524-6C>T
|
rs1203177428
|
0.00001
|
NM_001114753.3(ENG):c.539C>T (p.Ser180Phe)
|
rs375025857
|
0.00001
|
NM_001114753.3(ENG):c.579G>A (p.Thr193=)
|
rs769703434
|
0.00001
|
NM_001114753.3(ENG):c.582C>T (p.Leu194=)
|
rs140663846
|
0.00001
|
NM_001114753.3(ENG):c.594G>A (p.Pro198=)
|
rs568278048
|
0.00001
|
NM_001114753.3(ENG):c.613C>T (p.Arg205Trp)
|
rs762209698
|
0.00001
|
NM_001114753.3(ENG):c.633C>T (p.Gly211=)
|
rs928192105
|
0.00001
|
NM_001114753.3(ENG):c.636G>C (p.Val212=)
|
rs759493966
|
0.00001
|
NM_001114753.3(ENG):c.653C>T (p.Ala218Val)
|
rs1435676276
|
0.00001
|
NM_001114753.3(ENG):c.67+7G>A
|
rs1455679426
|
0.00001
|
NM_001114753.3(ENG):c.68-18C>T
|
rs372807542
|
0.00001
|
NM_001114753.3(ENG):c.68-9C>G
|
rs200772068
|
0.00001
|
NM_001114753.3(ENG):c.684G>A (p.Ser228=)
|
rs368752783
|
0.00001
|
NM_001114753.3(ENG):c.689+12G>A
|
rs759600714
|
0.00001
|
NM_001114753.3(ENG):c.690-16G>C
|
rs375559067
|
0.00001
|
NM_001114753.3(ENG):c.768C>T (p.Pro256=)
|
rs780493782
|
0.00001
|
NM_001114753.3(ENG):c.786C>T (p.Leu262=)
|
rs368800416
|
0.00001
|
NM_001114753.3(ENG):c.792C>T (p.Asp264=)
|
rs763763510
|
0.00001
|
NM_001114753.3(ENG):c.817-5A>G
|
rs765777426
|
0.00001
|
NM_001114753.3(ENG):c.831C>T (p.Tyr277=)
|
rs121918400
|
0.00001
|
NM_001114753.3(ENG):c.863G>A (p.Arg288His)
|
rs770328302
|
0.00001
|
NM_001114753.3(ENG):c.911G>A (p.Arg304Gln)
|
rs753429934
|
0.00001
|
NM_001114753.3(ENG):c.975T>G (p.Leu325=)
|
rs776872127
|
0.00001
|
NM_001114753.3(ENG):c.1017A>G (p.Ala339=)
|
rs2131886064
|
|
NM_001114753.3(ENG):c.1022T>C (p.Ile341Thr)
|
|
|
NM_001114753.3(ENG):c.1023C>A (p.Ile341=)
|
rs909339898
|
|
NM_001114753.3(ENG):c.1050T>C (p.Cys350=)
|
|
|
NM_001114753.3(ENG):c.1077C>A (p.Ile359=)
|
rs1830549327
|
|
NM_001114753.3(ENG):c.1089T>C (p.Cys363=)
|
|
|
NM_001114753.3(ENG):c.1092C>G (p.Ala364=)
|
|
|
NM_001114753.3(ENG):c.1095C>G (p.Asp365Glu)
|
rs142803546
|
|
NM_001114753.3(ENG):c.1096G>A (p.Asp366Asn)
|
rs1800956
|
|
NM_001114753.3(ENG):c.10G>A (p.Gly4Ser)
|
|
|
NM_001114753.3(ENG):c.10G>C (p.Gly4Arg)
|
|
|
NM_001114753.3(ENG):c.1108C>G (p.Leu370Val)
|
|
|
NM_001114753.3(ENG):c.1110G>A (p.Leu370=)
|
rs1588580725
|
|
NM_001114753.3(ENG):c.1114C>T (p.Leu372=)
|
|
|
NM_001114753.3(ENG):c.111C>G (p.Pro37=)
|
|
|
NM_001114753.3(ENG):c.1134+12C>T
|
|
|
NM_001114753.3(ENG):c.1134+16C>A
|
|
|
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.1152C>T (p.Ile384=)
|
|
|
NM_001114753.3(ENG):c.1161G>C (p.Leu387=)
|
|
|
NM_001114753.3(ENG):c.118G>T (p.Gly40Cys)
|
rs778319338
|
|
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.1209T>C (p.Phe403=)
|
|
|
NM_001114753.3(ENG):c.1215G>A (p.Leu405=)
|
|
|
NM_001114753.3(ENG):c.1216C>G (p.Arg406Gly)
|
rs751787590
|
|
NM_001114753.3(ENG):c.1218C>T (p.Arg406=)
|
|
|
NM_001114753.3(ENG):c.1230C>T (p.Ser410=)
|
|
|
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+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.1273-18C>T
|
|
|
NM_001114753.3(ENG):c.1273-19C>T
|
|
|
NM_001114753.3(ENG):c.1278G>A (p.Val426=)
|
|
|
NM_001114753.3(ENG):c.1278G>C (p.Val426=)
|
|
|
NM_001114753.3(ENG):c.1290G>A (p.Leu430=)
|
|
|
NM_001114753.3(ENG):c.1290G>T (p.Leu430=)
|
rs377321205
|
|
NM_001114753.3(ENG):c.1302A>G (p.Ser434=)
|
rs1588576596
|
|
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+89C>T
|
rs368202311
|
|
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.1312-20T>C
|
rs1448646670
|
|
NM_001114753.3(ENG):c.1312-4C>G
|
rs2131877165
|
|
NM_001114753.3(ENG):c.1338C>T (p.Asp446=)
|
|
|
NM_001114753.3(ENG):c.1401C>T (p.Ile467=)
|
|
|
NM_001114753.3(ENG):c.1402G>A (p.Glu468Lys)
|
|
|
NM_001114753.3(ENG):c.1428+11T>C
|
|
|
NM_001114753.3(ENG):c.1428+20C>A
|
|
|
NM_001114753.3(ENG):c.1428+8G>A
|
rs2131876799
|
|
NM_001114753.3(ENG):c.1429-16C>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.1434A>T (p.Arg478Ser)
|
rs778561832
|
|
NM_001114753.3(ENG):c.1440C>A (p.Ser480=)
|
rs1588575160
|
|
NM_001114753.3(ENG):c.1485G>A (p.Leu495=)
|
rs2131876068
|
|
NM_001114753.3(ENG):c.1497T>C (p.Pro499=)
|
|
|
NM_001114753.3(ENG):c.150G>A (p.Ser50=)
|
rs377129516
|
|
NM_001114753.3(ENG):c.1512G>A (p.Val504=)
|
rs2131875976
|
|
NM_001114753.3(ENG):c.1530G>A (p.Arg510=)
|
rs1225393890
|
|
NM_001114753.3(ENG):c.1565C>T (p.Pro522Leu)
|
rs929266862
|
|
NM_001114753.3(ENG):c.1573G>A (p.Glu525Lys)
|
|
|
NM_001114753.3(ENG):c.1612A>G (p.Thr538Ala)
|
|
|
NM_001114753.3(ENG):c.1620C>G (p.Pro540=)
|
rs1163127969
|
|
NM_001114753.3(ENG):c.1655C>A (p.Ala552Asp)
|
|
|
NM_001114753.3(ENG):c.1660C>T (p.Arg554Cys)
|
|
|
NM_001114753.3(ENG):c.1661G>A (p.Arg554His)
|
|
|
NM_001114753.3(ENG):c.1674G>C (p.Gly558=)
|
rs2131875527
|
|
NM_001114753.3(ENG):c.1686+15G>A
|
|
|
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.1687-15C>T
|
|
|
NM_001114753.3(ENG):c.1687-19CT[3]
|
|
|
NM_001114753.3(ENG):c.1695T>G (p.His565Gln)
|
|
|
NM_001114753.3(ENG):c.1698G>A (p.Arg566=)
|
rs1554809103
|
|
NM_001114753.3(ENG):c.1704C>T (p.Val568=)
|
rs1830344643
|
|
NM_001114753.3(ENG):c.171C>T (p.Ala57=)
|
|
|
NM_001114753.3(ENG):c.1720A>G (p.Ile574Val)
|
|
|
NM_001114753.3(ENG):c.1734C>T (p.Asp578=)
|
|
|
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.1742-19T>C
|
|
|
NM_001114753.3(ENG):c.1742-8C>T
|
rs1296395453
|
|
NM_001114753.3(ENG):c.1742-9C>T
|
rs1362579633
|
|
NM_001114753.3(ENG):c.1770C>T (p.Pro590=)
|
rs370943570
|
|
NM_001114753.3(ENG):c.1773C>T (p.Ala591=)
|
|
|
NM_001114753.3(ENG):c.1779G>A (p.Leu593=)
|
|
|
NM_001114753.3(ENG):c.179C>T (p.Ala60Val)
|
rs146100407
|
|
NM_001114753.3(ENG):c.179_180delinsAA (p.Ala60Glu)
|
rs1060504230
|
|
NM_001114753.3(ENG):c.1815G>A (p.Leu605=)
|
rs2131871479
|
|
NM_001114753.3(ENG):c.1844C>G (p.Ser615Trp)
|
rs148002300
|
|
NM_001114753.3(ENG):c.1845G>C (p.Ser615=)
|
rs759950184
|
|
NM_001114753.3(ENG):c.1845G>T (p.Ser615=)
|
rs759950184
|
|
NM_001114753.3(ENG):c.1852+23G>A
|
|
|
NM_001114753.3(ENG):c.1852+25G>A
|
|
|
NM_001114753.3(ENG):c.189A>G (p.Glu63=)
|
|
|
NM_001114753.3(ENG):c.192C>T (p.Val64=)
|
|
|
NM_001114753.3(ENG):c.198C>T (p.Val66=)
|
|
|
NM_001114753.3(ENG):c.219+12A>G
|
|
|
NM_001114753.3(ENG):c.219+13T>A
|
|
|
NM_001114753.3(ENG):c.219+20G>T
|
|
|
NM_001114753.3(ENG):c.220-11G>C
|
|
|
NM_001114753.3(ENG):c.220-13_220-12del
|
rs778594969
|
|
NM_001114753.3(ENG):c.220-15_220-13del
|
rs747642549
|
|
NM_001114753.3(ENG):c.220-6C>A
|
rs756342212
|
|
NM_001114753.3(ENG):c.220-6C>T
|
rs756342212
|
|
NM_001114753.3(ENG):c.232C>T (p.Leu78=)
|
rs1060504229
|
|
NM_001114753.3(ENG):c.238C>T (p.Leu80=)
|
|
|
NM_001114753.3(ENG):c.255C>T (p.Ser85=)
|
rs2131895211
|
|
NM_001114753.3(ENG):c.27T>C (p.Ala9=)
|
rs2131936584
|
|
NM_001114753.3(ENG):c.283G>T (p.Val95Leu)
|
|
|
NM_001114753.3(ENG):c.285G>A (p.Val95=)
|
rs1644523483
|
|
NM_001114753.3(ENG):c.297C>T (p.Leu99=)
|
rs2131895105
|
|
NM_001114753.3(ENG):c.315C>T (p.Val105=)
|
rs1489927188
|
|
NM_001114753.3(ENG):c.318C>T (p.Phe106=)
|
rs1295204585
|
|
NM_001114753.3(ENG):c.327C>G (p.Leu109=)
|
|
|
NM_001114753.3(ENG):c.331G>A (p.Ala111Thr)
|
|
|
NM_001114753.3(ENG):c.348G>A (p.Leu116=)
|
rs1205469132
|
|
NM_001114753.3(ENG):c.360+12C>G
|
rs1830711464
|
|
NM_001114753.3(ENG):c.370C>G (p.Leu124Val)
|
|
|
NM_001114753.3(ENG):c.387_388delinsAT (p.Pro130Ser)
|
|
|
NM_001114753.3(ENG):c.389C>T (p.Pro130Leu)
|
|
|
NM_001114753.3(ENG):c.390C>T (p.Pro130=)
|
rs2131890682
|
|
NM_001114753.3(ENG):c.392C>A (p.Pro131Gln)
|
rs139398993
|
|
NM_001114753.3(ENG):c.400A>G (p.Asn134Asp)
|
|
|
NM_001114753.3(ENG):c.412C>T (p.Leu138=)
|
|
|
NM_001114753.3(ENG):c.417A>C (p.Pro139=)
|
rs748286907
|
|
NM_001114753.3(ENG):c.417A>G (p.Pro139=)
|
|
|
NM_001114753.3(ENG):c.441T>A (p.Leu147=)
|
|
|
NM_001114753.3(ENG):c.441T>C (p.Leu147=)
|
|
|
NM_001114753.3(ENG):c.456G>A (p.Glu152=)
|
rs1588583553
|
|
NM_001114753.3(ENG):c.457A>T (p.Arg153Trp)
|
rs1323149703
|
|
NM_001114753.3(ENG):c.45C>T (p.Ala15=)
|
|
|
NM_001114753.3(ENG):c.501C>T (p.Ser167=)
|
|
|
NM_001114753.3(ENG):c.513A>C (p.Arg171=)
|
|
|
NM_001114753.3(ENG):c.513A>G (p.Arg171=)
|
rs751043726
|
|
NM_001114753.3(ENG):c.523+16A>C
|
|
|
NM_001114753.3(ENG):c.523+18C>T
|
|
|
NM_001114753.3(ENG):c.524-10G>C
|
|
|
NM_001114753.3(ENG):c.524-11T>C
|
|
|
NM_001114753.3(ENG):c.524-14G>C
|
|
|
NM_001114753.3(ENG):c.561C>A (p.Ser187Arg)
|
|
|
NM_001114753.3(ENG):c.568A>G (p.Met190Val)
|
|
|
NM_001114753.3(ENG):c.574C>G (p.Arg192Gly)
|
rs537215880
|
|
NM_001114753.3(ENG):c.574C>T (p.Arg192Cys)
|
|
|
NM_001114753.3(ENG):c.576C>G (p.Arg192=)
|
|
|
NM_001114753.3(ENG):c.578C>T (p.Thr193Met)
|
rs775442178
|
|
NM_001114753.3(ENG):c.583G>C (p.Glu195Gln)
|
rs1255912441
|
|
NM_001114753.3(ENG):c.591G>A (p.Arg197=)
|
|
|
NM_001114753.3(ENG):c.606C>T (p.Ala202=)
|
rs2131889233
|
|
NM_001114753.3(ENG):c.613C>A (p.Arg205=)
|
|
|
NM_001114753.3(ENG):c.614G>A (p.Arg205Gln)
|
rs751778614
|
|
NM_001114753.3(ENG):c.615G>T (p.Arg205=)
|
rs2131889212
|
|
NM_001114753.3(ENG):c.627G>A (p.Leu209=)
|
rs763087751
|
|
NM_001114753.3(ENG):c.636G>A (p.Val212=)
|
|
|
NM_001114753.3(ENG):c.638C>A (p.Ala213Asp)
|
|
|
NM_001114753.3(ENG):c.639C>T (p.Ala213=)
|
|
|
NM_001114753.3(ENG):c.651G>A (p.Glu217=)
|
|
|
NM_001114753.3(ENG):c.654G>C (p.Ala218=)
|
rs773156160
|
|
NM_001114753.3(ENG):c.660C>T (p.Ile220=)
|
|
|
NM_001114753.3(ENG):c.663G>A (p.Leu221=)
|
rs747788064
|
|
NM_001114753.3(ENG):c.665G>A (p.Arg222Lys)
|
|
|
NM_001114753.3(ENG):c.67+20G>T
|
|
|
NM_001114753.3(ENG):c.672G>A (p.Leu224=)
|
rs746358974
|
|
NM_001114753.3(ENG):c.674C>A (p.Pro225Gln)
|
|
|
NM_001114753.3(ENG):c.674C>G (p.Pro225Arg)
|
|
|
NM_001114753.3(ENG):c.689+11C>T
|
|
|
NM_001114753.3(ENG):c.689+12G>C
|
rs759600714
|
|
NM_001114753.3(ENG):c.689+14C>T
|
|
|
NM_001114753.3(ENG):c.689+15C>A
|
|
|
NM_001114753.3(ENG):c.689+15C>T
|
rs766360447
|
|
NM_001114753.3(ENG):c.689+16C>T
|
|
|
NM_001114753.3(ENG):c.689+20C>A
|
|
|
NM_001114753.3(ENG):c.689+21_689+22del
|
|
|
NM_001114753.3(ENG):c.690-16G>A
|
|
|
NM_001114753.3(ENG):c.690-17C>A
|
rs199525659
|
|
NM_001114753.3(ENG):c.690-18G>A
|
|
|
NM_001114753.3(ENG):c.690-18G>C
|
rs376779134
|
|
NM_001114753.3(ENG):c.690-19C>T
|
|
|
NM_001114753.3(ENG):c.690-19del
|
rs557108998
|
|
NM_001114753.3(ENG):c.705G>C (p.Thr235=)
|
rs755116051
|
|
NM_001114753.3(ENG):c.718C>T (p.Leu240=)
|
|
|
NM_001114753.3(ENG):c.720G>A (p.Leu240=)
|
|
|
NM_001114753.3(ENG):c.729A>C (p.Ala243=)
|
rs1242657224
|
|
NM_001114753.3(ENG):c.747C>G (p.Ala249=)
|
|
|
NM_001114753.3(ENG):c.753C>T (p.Leu251=)
|
rs1830581337
|
|
NM_001114753.3(ENG):c.777G>T (p.Val259=)
|
rs2131887746
|
|
NM_001114753.3(ENG):c.789C>T (p.Ile263=)
|
|
|
NM_001114753.3(ENG):c.79A>G (p.Thr27Ala)
|
|
|
NM_001114753.3(ENG):c.809A>G (p.Gln270Arg)
|
|
|
NM_001114753.3(ENG):c.816+11C>T
|
|
|
NM_001114753.3(ENG):c.816+13C>T
|
|
|
NM_001114753.3(ENG):c.816+8G>A
|
|
|
NM_001114753.3(ENG):c.816+9T>A
|
rs1830577813
|
|
NM_001114753.3(ENG):c.819C>T (p.Thr273=)
|
rs2131887210
|
|
NM_001114753.3(ENG):c.822T>C (p.Thr274=)
|
rs2131887195
|
|
NM_001114753.3(ENG):c.825A>G (p.Gly275=)
|
|
|
NM_001114753.3(ENG):c.862C>T (p.Arg288Cys)
|
|
|
NM_001114753.3(ENG):c.867C>T (p.Gly289=)
|
rs2131887082
|
|
NM_001114753.3(ENG):c.870C>T (p.Phe290=)
|
rs1830570141
|
|
NM_001114753.3(ENG):c.910C>G (p.Arg304Gly)
|
rs754842280
|
|
NM_001114753.3(ENG):c.933G>A (p.Val311=)
|
|
|
NM_001114753.3(ENG):c.942C>T (p.Phe314=)
|
rs767171893
|
|
NM_001114753.3(ENG):c.954G>T (p.Pro318=)
|
rs149590262
|
|
NM_001114753.3(ENG):c.965T>C (p.Ile322Thr)
|
|
|
NM_001114753.3(ENG):c.96T>C (p.Leu32=)
|
|
|
NM_001114753.3(ENG):c.974T>A (p.Leu325His)
|
|
|
NM_001114753.3(ENG):c.991+7A>G
|
|
|
NM_001114753.3(ENG):c.991+8C>A
|
rs2131886790
|
|
NM_001114753.3(ENG):c.992-4A>G
|
rs1316539915
|
|
NM_001114753.3(ENG):c.992-5C>A
|
rs765715581
|
|
NM_001114753.3(ENG):c.992-6C>T
|
rs756890201
|
|
NM_001114753.3(ENG):c.992-8C>T
|
|
|
NM_001114753.3(ENG):c.996T>C (p.Gly332=)
|
rs759964114
|
|
NM_001114753.3(ENG):c.998G>A (p.Arg333Lys)
|
|
|