NM_001114753.3(ENG):c.207G>A (p.Leu69=)
|
rs11545664
|
0.14184
|
NM_001114753.3(ENG):c.1029C>T (p.Thr343=)
|
rs3739817
|
0.06792
|
NM_001114753.3(ENG):c.219+25G>T
|
rs7847860
|
0.06245
|
NM_001114753.3(ENG):c.14C>T (p.Thr5Met)
|
rs35400405
|
0.04608
|
NM_001114753.3(ENG):c.1060C>T (p.Leu354=)
|
rs36092484
|
0.03618
|
NM_001114753.3(ENG):c.1794T>C (p.Gly598=)
|
rs41358947
|
0.01435
|
NM_001114753.3(ENG):c.572G>A (p.Gly191Asp)
|
rs41322046
|
0.01000
|
NM_001114753.3(ENG):c.1932C>T (p.Ile644=)
|
rs181330955
|
0.00609
|
NM_001114753.3(ENG):c.120C>T (p.Gly40=)
|
rs41522944
|
0.00355
|
NM_001114753.3(ENG):c.1096G>C (p.Asp366His)
|
rs1800956
|
0.00353
|
NM_001114753.3(ENG):c.1844C>T (p.Ser615Leu)
|
rs148002300
|
0.00134
|
NM_001114753.3(ENG):c.732C>T (p.Pro244=)
|
rs112262663
|
0.00124
|
NM_001114753.3(ENG):c.179C>A (p.Ala60Asp)
|
rs146100407
|
0.00117
|
NM_001114753.3(ENG):c.180C>A (p.Ala60=)
|
rs146188464
|
0.00117
|
NM_001114753.3(ENG):c.524-12G>A
|
rs142841129
|
0.00116
|
NM_001114753.3(ENG):c.524-15C>T
|
rs201463582
|
0.00114
|
NM_001114753.3(ENG):c.225G>A (p.Pro75=)
|
rs116146060
|
0.00091
|
NM_001114753.3(ENG):c.1852+52G>C
|
rs371104611
|
0.00083
|
NM_001114753.3(ENG):c.*491C>T
|
rs190129922
|
0.00081
|
NM_001114753.3(ENG):c.-289A>T
|
rs538284289
|
0.00081
|
NM_001114753.3(ENG):c.-186G>A
|
rs569618819
|
0.00080
|
NM_001114753.3(ENG):c.-54C>A
|
rs2296702
|
0.00080
|
NM_001114753.3(ENG):c.617G>C (p.Gly206Ala)
|
rs201393380
|
0.00080
|
NM_001114753.3(ENG):c.392C>T (p.Pro131Leu)
|
rs139398993
|
0.00077
|
NM_001114753.3(ENG):c.234G>A (p.Leu78=)
|
rs115675061
|
0.00076
|
NM_001114753.3(ENG):c.816+12G>A
|
rs115316938
|
0.00076
|
NM_001114753.3(ENG):c.-158C>T
|
rs41470844
|
0.00075
|
NM_001114753.3(ENG):c.219+22C>T
|
rs370257876
|
0.00073
|
NM_001114753.3(ENG):c.159C>T (p.Cys53=)
|
rs148475405
|
0.00056
|
NM_001114753.3(ENG):c.1853-27C>T
|
rs376579767
|
0.00043
|
NM_001114753.3(ENG):c.*449C>G
|
rs529337078
|
0.00042
|
NM_001114753.3(ENG):c.687C>T (p.Ala229=)
|
rs376919650
|
0.00042
|
NM_001114753.3(ENG):c.-9G>A
|
rs368423516
|
0.00040
|
NM_001114753.3(ENG):c.219+23G>A
|
rs200726108
|
0.00037
|
NM_001114753.3(ENG):c.640G>A (p.Gly214Ser)
|
rs150932144
|
0.00034
|
NM_001114753.3(ENG):c.-63C>T
|
rs886063476
|
0.00028
|
NM_001114753.3(ENG):c.1095C>T (p.Asp365=)
|
rs142803546
|
0.00026
|
NM_001114753.3(ENG):c.*523A>G
|
rs72616667
|
0.00024
|
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.388C>T (p.Pro130Ser)
|
rs199840979
|
0.00021
|
NM_000118.3(ENG):c.-343C>T
|
rs543301425
|
0.00020
|
NM_001114753.3(ENG):c.-246T>C
|
rs886063478
|
0.00020
|
NM_001114753.3(ENG):c.-70C>T
|
rs562538400
|
0.00020
|
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.-188G>A
|
rs961480381
|
0.00017
|
NM_001114753.3(ENG):c.291G>C (p.Leu97=)
|
rs376641299
|
0.00016
|
NM_001114753.3(ENG):c.595C>T (p.Arg199Cys)
|
rs752195587
|
0.00016
|
NM_001114753.3(ENG):c.321G>T (p.Leu107=)
|
rs767907933
|
0.00015
|
NM_001114753.3(ENG):c.322C>T (p.His108Tyr)
|
rs756897517
|
0.00015
|
NM_001114753.3(ENG):c.694C>T (p.Arg232Trp)
|
rs200372420
|
0.00014
|
NM_001114753.3(ENG):c.-227C>G
|
rs955866378
|
0.00013
|
NM_001114753.3(ENG):c.306C>T (p.Asn102=)
|
rs148098047
|
0.00012
|
NM_001114753.3(ENG):c.360+91C>T
|
rs371908386
|
0.00012
|
NM_001114753.3(ENG):c.726C>T (p.Cys242=)
|
rs545465750
|
0.00012
|
NM_001114753.3(ENG):c.*266G>A
|
rs764451017
|
0.00010
|
NM_001114753.3(ENG):c.850G>A (p.Glu284Lys)
|
rs372045549
|
0.00010
|
NM_001114753.3(ENG):c.1040A>G (p.Lys347Arg)
|
rs150829904
|
0.00009
|
NM_001114753.3(ENG):c.1133C>T (p.Ala378Val)
|
rs143054595
|
0.00009
|
NM_001114753.3(ENG):c.*273A>C
|
rs138178682
|
0.00008
|
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.1852+21C>G
|
rs147188969
|
0.00008
|
NM_001114753.3(ENG):c.634G>A (p.Val212Met)
|
rs370652082
|
0.00008
|
NM_001114753.3(ENG):c.690-4G>A
|
rs762621671
|
0.00008
|
NM_001114753.3(ENG):c.690-59C>A
|
rs369047677
|
0.00008
|
NM_001114753.3(ENG):c.*492G>A
|
rs148192743
|
0.00007
|
NM_001114753.3(ENG):c.121G>A (p.Glu41Lys)
|
rs199675436
|
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.*558A>G
|
rs143099696
|
0.00006
|
NM_001114753.3(ENG):c.-76C>T
|
rs943786398
|
0.00006
|
NM_001114753.3(ENG):c.-98G>A
|
rs923040659
|
0.00006
|
NM_001114753.3(ENG):c.1852+42C>T
|
rs779974705
|
0.00006
|
NM_001114753.3(ENG):c.360C>T (p.Tyr120=)
|
rs121918402
|
0.00006
|
NM_001114753.3(ENG):c.-126G>A
|
rs940261789
|
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.689+17G>A
|
rs773103359
|
0.00005
|
NM_001114753.3(ENG):c.1019C>T (p.Pro340Leu)
|
rs772135786
|
0.00004
|
NM_001114753.3(ENG):c.112G>A (p.Glu38Lys)
|
rs747481834
|
0.00004
|
NM_001114753.3(ENG):c.1134+92G>A
|
rs1194091413
|
0.00004
|
NM_001114753.3(ENG):c.1761C>T (p.Leu587=)
|
rs546872552
|
0.00004
|
NM_001114753.3(ENG):c.1851G>A (p.Thr617=)
|
rs747344646
|
0.00004
|
NM_001114753.3(ENG):c.1853-9C>T
|
rs368472273
|
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.727G>A (p.Ala243Thr)
|
rs761827492
|
0.00004
|
NM_001114753.3(ENG):c.742G>A (p.Asp248Asn)
|
rs775160533
|
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.1067T>A (p.Met356Lys)
|
rs138190783
|
0.00003
|
NM_001114753.3(ENG):c.1093G>A (p.Asp365Asn)
|
rs548690138
|
0.00003
|
NM_001114753.3(ENG):c.1134G>A (p.Ala378=)
|
rs1329127701
|
0.00003
|
NM_001114753.3(ENG):c.217A>G (p.Thr73Ala)
|
rs1472137141
|
0.00003
|
NM_001114753.3(ENG):c.242C>A (p.Thr81Asn)
|
rs1413416433
|
0.00003
|
NM_001114753.3(ENG):c.374T>C (p.Val125Ala)
|
rs750115837
|
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.593C>T (p.Pro198Leu)
|
rs777633247
|
0.00003
|
NM_001114753.3(ENG):c.627G>C (p.Leu209Phe)
|
rs763087751
|
0.00003
|
NM_001114753.3(ENG):c.674C>T (p.Pro225Leu)
|
rs781715616
|
0.00003
|
NM_001114753.3(ENG):c.690-5C>T
|
rs374628465
|
0.00003
|
NM_001114753.3(ENG):c.69T>C (p.Ser23=)
|
rs202048202
|
0.00003
|
NM_001114753.3(ENG):c.820A>G (p.Thr274Ala)
|
rs1370586541
|
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.*4C>T
|
rs775604819
|
0.00002
|
NM_001114753.3(ENG):c.-23G>A
|
rs1311087483
|
0.00002
|
NM_001114753.3(ENG):c.-59C>T
|
rs1003149967
|
0.00002
|
NM_001114753.3(ENG):c.149C>T (p.Ser50Leu)
|
rs927607049
|
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.1876G>A (p.Val626Met)
|
rs745843047
|
0.00002
|
NM_001114753.3(ENG):c.338G>A (p.Gly113Glu)
|
rs1169024767
|
0.00002
|
NM_001114753.3(ENG):c.361-12_361-11del
|
rs781079790
|
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.686C>A (p.Ala229Asp)
|
rs971190119
|
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.805A>G (p.Met269Val)
|
rs1323617205
|
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.*109C>T
|
rs553180494
|
0.00001
|
NM_001114753.3(ENG):c.*133C>T
|
rs539680928
|
0.00001
|
NM_001114753.3(ENG):c.*150C>A
|
rs886063475
|
0.00001
|
NM_001114753.3(ENG):c.*252C>A
|
rs886063474
|
0.00001
|
NM_001114753.3(ENG):c.*438G>A
|
rs1830275627
|
0.00001
|
NM_001114753.3(ENG):c.*534C>T
|
rs893984357
|
0.00001
|
NM_001114753.3(ENG):c.*586C>T
|
rs1045413208
|
0.00001
|
NM_001114753.3(ENG):c.-10C>T
|
rs756994701
|
0.00001
|
NM_001114753.3(ENG):c.-249C>A
|
rs914868382
|
0.00001
|
NM_001114753.3(ENG):c.-91C>T
|
rs1478547011
|
0.00001
|
NM_001114753.3(ENG):c.-99C>T
|
rs1488678420
|
0.00001
|
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.108C>T (p.Gly36=)
|
rs748898883
|
0.00001
|
NM_001114753.3(ENG):c.1092C>T (p.Ala364=)
|
rs375427398
|
0.00001
|
NM_001114753.3(ENG):c.1097A>G (p.Asp366Gly)
|
rs932659087
|
0.00001
|
NM_001114753.3(ENG):c.111C>T (p.Pro37=)
|
rs755626994
|
0.00001
|
NM_001114753.3(ENG):c.160G>A (p.Val54Met)
|
rs923794879
|
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.1774G>A (p.Val592Met)
|
rs756003321
|
0.00001
|
NM_001114753.3(ENG):c.1782C>T (p.Gly594=)
|
rs1390519046
|
0.00001
|
NM_001114753.3(ENG):c.1850C>T (p.Thr617Met)
|
rs201031046
|
0.00001
|
NM_001114753.3(ENG):c.1852+11C>T
|
rs1830300469
|
0.00001
|
NM_001114753.3(ENG):c.1852C>T (p.Arg618Cys)
|
rs1346184000
|
0.00001
|
NM_001114753.3(ENG):c.1853-18C>T
|
rs908692674
|
0.00001
|
NM_001114753.3(ENG):c.185T>A (p.Leu62His)
|
rs1060501424
|
0.00001
|
NM_001114753.3(ENG):c.1970T>C (p.Met657Thr)
|
rs768873662
|
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.219+3G>A
|
rs1419279746
|
0.00001
|
NM_001114753.3(ENG):c.278G>A (p.Arg93Gln)
|
rs532649202
|
0.00001
|
NM_001114753.3(ENG):c.28G>A (p.Val10Ile)
|
rs1829096799
|
0.00001
|
NM_001114753.3(ENG):c.310A>G (p.Ser104Gly)
|
rs757343854
|
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.376A>G (p.Thr126Ala)
|
rs1564456742
|
0.00001
|
NM_001114753.3(ENG):c.442G>C (p.Glu148Gln)
|
rs770290260
|
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.524-2A>G
|
rs1060501414
|
0.00001
|
NM_001114753.3(ENG):c.524-6C>T
|
rs1203177428
|
0.00001
|
NM_001114753.3(ENG):c.534_536del (p.Leu179del)
|
rs1285249384
|
0.00001
|
NM_001114753.3(ENG):c.539C>T (p.Ser180Phe)
|
rs375025857
|
0.00001
|
NM_001114753.3(ENG):c.575G>A (p.Arg192His)
|
rs1029569378
|
0.00001
|
NM_001114753.3(ENG):c.576C>T (p.Arg192=)
|
rs1482783820
|
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.590G>A (p.Arg197Gln)
|
rs770898485
|
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.675G>A (p.Pro225=)
|
rs757608428
|
0.00001
|
NM_001114753.3(ENG):c.68-17G>A
|
rs570198729
|
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.680A>G (p.His227Arg)
|
rs377548944
|
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.691C>A (p.Pro231Thr)
|
rs769339049
|
0.00001
|
NM_001114753.3(ENG):c.698C>T (p.Thr233Met)
|
rs139767471
|
0.00001
|
NM_001114753.3(ENG):c.704C>T (p.Thr235Met)
|
rs1361480439
|
0.00001
|
NM_001114753.3(ENG):c.754A>T (p.Ile252Phe)
|
rs377377549
|
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.790G>A (p.Asp264Asn)
|
rs1210433339
|
0.00001
|
NM_001114753.3(ENG):c.792C>T (p.Asp264=)
|
rs763763510
|
0.00001
|
NM_001114753.3(ENG):c.816+6T>C
|
rs759191907
|
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.839A>G (p.Lys280Arg)
|
rs774709924
|
0.00001
|
NM_001114753.3(ENG):c.841A>G (p.Ile281Val)
|
rs764640510
|
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.943G>A (p.Val315Met)
|
rs763508329
|
0.00001
|
NM_001114753.3(ENG):c.975T>G (p.Leu325=)
|
rs776872127
|
0.00001
|
GRCh37/hg19 9q34.11(chr9:130581787-130582459)
|
|
|
NC_000009.11:g.(?_130577951)_(130581121_?)del
|
|
|
NC_000009.11:g.(?_130577951)_(130582326_?)del
|
|
|
NC_000009.11:g.(?_130578090)_130581774del
|
|
|
NC_000009.11:g.(?_130578190)_(130592112_?)dup
|
|
|
NC_000009.11:g.(?_130578190)_(130616640_?)dup
|
|
|
NC_000009.11:g.(?_130578196)_(130581131_?)del
|
|
|
NC_000009.11:g.(?_130578196)_(130582336_?)del
|
|
|
NC_000009.11:g.(?_130578196)_(130592116_?)del
|
|
|
NC_000009.11:g.(?_130578196)_(130616761_?)dup
|
|
|
NC_000009.11:g.(?_130579418)_(130579492_?)del
|
|
|
NC_000009.11:g.(?_130586563)_(130587263_?)dup
|
|
|
NC_000009.11:g.(?_130586563)_(130588971_?)dup
|
|
|
NC_000009.11:g.(?_130586563)_(130592126_?)dup
|
|
|
NC_000009.11:g.(?_130586563)_(130605544_?)dup
|
|
|
NC_000009.11:g.(?_130586573)_(130592116_?)del
|
|
|
NC_000009.11:g.(?_130586635)_(130592750_?)del
|
|
|
NC_000009.11:g.(?_130587069)_(130592116_?)del
|
|
|
NC_000009.11:g.(?_130587069)_(130592116_?)dup
|
|
|
NC_000009.11:g.(?_130605351)_(130616761_?)del
|
|
|
NC_000009.11:g.(?_130605373)_(130605524_?)dup
|
|
|
NC_000009.12:g.(?_127815672)_(127854482_?)del
|
|
|
NC_000009.12:g.(?_127815907)_(127854365_?)del
|
|
|
NC_000009.12:g.(?_127815917)_(127854482_?)del
|
|
|
NC_000009.12:g.(?_127819612)_(127820047_?)dup
|
|
|
NC_000009.12:g.(?_127819612)_(127829837_?)del
|
|
|
NC_000009.12:g.(?_127824284)_(127824994_?)del
|
|
|
NC_000009.12:g.(?_127824284)_(127829847_?)del
|
|
|
NC_000009.12:g.(?_127824284)_(127854482_?)del
|
|
|
NC_000009.12:g.(?_127824294)_(127824456_?)del
|
|
|
NC_000009.12:g.(?_127824294)_(127825367_?)dup
|
|
|
NC_000009.12:g.(?_127824294)_(127826683_?)del
|
|
|
NC_000009.12:g.(?_127825214)_(127826683_?)del
|
|
|
NC_000009.12:g.(?_127829681)_(127829833_?)del
|
|
|
NC_000009.12:g.(?_127843084)_(127843255_?)dup
|
|
|
NC_000009.12:g.(?_127843088)_(127843251_?)del
|
|
|
NC_000009.12:g.(?_127843094)_(127843245_?)del
|
|
|
NC_000009.12:g.(?_127854269)_(127854482_?)del
|
|
|
NC_000009.12:g.(?_127854279)_(127854365_?)del
|
|
|
NC_000009.12:g.(?_127854279)_(127854482_?)del
|
|
|
NM_000118.3(ENG):c.-338G>A
|
rs534779092
|
|
NM_000118.3(ENG):c.-339C>T
|
rs554349374
|
|
NM_000118.3(ENG):c.-364G>A
|
rs1011392059
|
|
NM_000118.3(ENG):c.-395C>A
|
rs886063479
|
|
NM_001114753.3(ENG):c.*320G>A
|
rs41478248
|
|
NM_001114753.3(ENG):c.*391G>A
|
rs1830277239
|
|
NM_001114753.3(ENG):c.*424G>C
|
rs1482022005
|
|
NM_001114753.3(ENG):c.*461AACT[1]
|
rs41514846
|
|
NM_001114753.3(ENG):c.*530T>A
|
rs1830273682
|
|
NM_001114753.3(ENG):c.*533G>A
|
rs1830273631
|
|
NM_001114753.3(ENG):c.-111G>A
|
|
|
NM_001114753.3(ENG):c.-112C>T
|
|
|
NM_001114753.3(ENG):c.-115G>A
|
|
|
NM_001114753.3(ENG):c.-115G>C
|
rs546892762
|
|
NM_001114753.3(ENG):c.-117C>T
|
|
|
NM_001114753.3(ENG):c.-123G>A
|
|
|
NM_001114753.3(ENG):c.-127C>T
|
rs1060501408
|
|
NM_001114753.3(ENG):c.-12C>T
|
|
|
NM_001114753.3(ENG):c.-133C>T
|
|
|
NM_001114753.3(ENG):c.-141G>T
|
|
|
NM_001114753.3(ENG):c.-154C>T
|
|
|
NM_001114753.3(ENG):c.-21A>G
|
|
|
NM_001114753.3(ENG):c.-24C>T
|
|
|
NM_001114753.3(ENG):c.-289A>C
|
rs538284289
|
|
NM_001114753.3(ENG):c.-2G>T
|
|
|
NM_001114753.3(ENG):c.-58G>A
|
|
|
NM_001114753.3(ENG):c.-59C>A
|
|
|
NM_001114753.3(ENG):c.-62G>A
|
|
|
NM_001114753.3(ENG):c.-69G>A
|
|
|
NM_001114753.3(ENG):c.-70del
|
rs886063477
|
|
NM_001114753.3(ENG):c.-75G>A
|
|
|
NM_001114753.3(ENG):c.-77C>G
|
rs1829099196
|
|
NM_001114753.3(ENG):c.-78G>A
|
|
|
NM_001114753.3(ENG):c.-79C>T
|
rs1564466502
|
|
NM_001114753.3(ENG):c.-8_8del (p.Met1fs)
|
rs1588604603
|
|
NM_001114753.3(ENG):c.-90G>C
|
rs768083796
|
|
NM_001114753.3(ENG):c.-94C>G
|
|
|
NM_001114753.3(ENG):c.1003C>T (p.Gln335Ter)
|
|
|
NM_001114753.3(ENG):c.1015_1024del (p.Ala339fs)
|
rs1554810066
|
|
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.1024C>T (p.Gln342Ter)
|
rs774429348
|
|
NM_001114753.3(ENG):c.1026G>T (p.Gln342His)
|
rs1830551216
|
|
NM_001114753.3(ENG):c.1027A>G (p.Thr343Ala)
|
rs2131886016
|
|
NM_001114753.3(ENG):c.1029_1030delinsTC (p.Thr344Pro)
|
rs2131885993
|
|
NM_001114753.3(ENG):c.1029_1060delinsATGGTGG (p.Thr344fs)
|
rs1064792934
|
|
NM_001114753.3(ENG):c.1036C>T (p.Pro346Ser)
|
rs1554810062
|
|
NM_001114753.3(ENG):c.1039A>T (p.Lys347Ter)
|
rs1446116085
|
|
NM_001114753.3(ENG):c.1042del (p.Asp348fs)
|
rs2131885976
|
|
NM_001114753.3(ENG):c.1050T>C (p.Cys350=)
|
|
|
NM_001114753.3(ENG):c.1051_1052del (p.Ser351fs)
|
|
|
NM_001114753.3(ENG):c.1063C>T (p.Leu355Phe)
|
rs1830549584
|
|
NM_001114753.3(ENG):c.1064T>C (p.Leu355Pro)
|
|
|
NM_001114753.3(ENG):c.1067T>C (p.Met356Thr)
|
rs138190783
|
|
NM_001114753.3(ENG):c.1067T>G (p.Met356Arg)
|
rs138190783
|
|
NM_001114753.3(ENG):c.1076T>A (p.Ile359Asn)
|
rs2131885879
|
|
NM_001114753.3(ENG):c.1076T>C (p.Ile359Thr)
|
|
|
NM_001114753.3(ENG):c.1076dup (p.Gln360fs)
|
rs2131885883
|
|
NM_001114753.3(ENG):c.1077C>A (p.Ile359=)
|
rs1830549327
|
|
NM_001114753.3(ENG):c.1080_1083del (p.Thr361fs)
|
rs863223540
|
|
NM_001114753.3(ENG):c.1084_1085del (p.Lys362fs)
|
rs1554810051
|
|
NM_001114753.3(ENG):c.1087T>C (p.Cys363Arg)
|
rs2131885848
|
|
NM_001114753.3(ENG):c.1087T>G (p.Cys363Gly)
|
|
|
NM_001114753.3(ENG):c.1088G>C (p.Cys363Ser)
|
rs1588580782
|
|
NM_001114753.3(ENG):c.1089T>C (p.Cys363=)
|
|
|
NM_001114753.3(ENG):c.1092C>G (p.Ala364=)
|
|
|
NM_001114753.3(ENG):c.1093G>T (p.Asp365Tyr)
|
rs548690138
|
|
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.1099G>C (p.Ala367Pro)
|
rs372371435
|
|
NM_001114753.3(ENG):c.10G>A (p.Gly4Ser)
|
|
|
NM_001114753.3(ENG):c.10G>C (p.Gly4Arg)
|
|
|
NM_001114753.3(ENG):c.1100C>G (p.Ala367Gly)
|
|
|
NM_001114753.3(ENG):c.1106C>T (p.Thr369Ile)
|
rs775352287
|
|
NM_001114753.3(ENG):c.1108C>G (p.Leu370Val)
|
|
|
NM_001114753.3(ENG):c.1109T>A (p.Leu370Gln)
|
rs1830547696
|
|
NM_001114753.3(ENG):c.1110G>A (p.Leu370=)
|
rs1588580725
|
|
NM_001114753.3(ENG):c.1110_1115dup (p.Leu372_Lys373insValLeu)
|
rs1830547424
|
|
NM_001114753.3(ENG):c.1111dup (p.Val371fs)
|
rs1554810041
|
|
NM_001114753.3(ENG):c.1114C>T (p.Leu372=)
|
|
|
NM_001114753.3(ENG):c.111C>G (p.Pro37=)
|
|
|
NM_001114753.3(ENG):c.111del (p.Glu38fs)
|
|
|
NM_001114753.3(ENG):c.1121_1122delinsGC (p.Lys374Ser)
|
rs2131885751
|
|
NM_001114753.3(ENG):c.1121_1124del (p.Lys374fs)
|
rs1064793734
|
|
NM_001114753.3(ENG):c.1124_1125del (p.Glu375fs)
|
rs1554810037
|
|
NM_001114753.3(ENG):c.1134+12C>T
|
|
|
NM_001114753.3(ENG):c.1134+16C>A
|
|
|
NM_001114753.3(ENG):c.1134+1G>A
|
rs112809381
|
|
NM_001114753.3(ENG):c.1134G>C (p.Ala378=)
|
rs1329127701
|
|
NM_001114753.3(ENG):c.116G>A (p.Arg39Lys)
|
rs892005175
|
|
NM_001114753.3(ENG):c.118G>T (p.Gly40Cys)
|
rs778319338
|
|
NM_001114753.3(ENG):c.119_133del (p.Gly40_Thr45delinsAla)
|
|
|
NM_001114753.3(ENG):c.119del (p.Gly40fs)
|
rs369596004
|
|
NM_001114753.3(ENG):c.130T>C (p.Tyr44His)
|
rs1554812271
|
|
NM_001114753.3(ENG):c.130T>G (p.Tyr44Asp)
|
rs1554812271
|
|
NM_001114753.3(ENG):c.132_133del (p.Thr45fs)
|
rs2131918640
|
|
NM_001114753.3(ENG):c.137C>T (p.Thr46Ile)
|
rs1393437924
|
|
NM_001114753.3(ENG):c.142C>T (p.Gln48Ter)
|
rs1831082433
|
|
NM_001114753.3(ENG):c.145G>T (p.Val49Phe)
|
rs1252348200
|
|
NM_001114753.3(ENG):c.146T>A (p.Val49Asp)
|
|
|
NM_001114753.3(ENG):c.146del (p.Val49fs)
|
rs1831082309
|
|
NM_001114753.3(ENG):c.149C>A (p.Ser50Ter)
|
rs927607049
|
|
NM_001114753.3(ENG):c.150G>A (p.Ser50=)
|
rs377129516
|
|
NM_001114753.3(ENG):c.153G>C (p.Lys51Asn)
|
|
|
NM_001114753.3(ENG):c.155G>A (p.Gly52Asp)
|
rs1564462765
|
|
NM_001114753.3(ENG):c.157T>C (p.Cys53Arg)
|
|
|
NM_001114753.3(ENG):c.159C>A (p.Cys53Ter)
|
rs148475405
|
|
NM_001114753.3(ENG):c.15G>A (p.Thr5=)
|
|
|
NM_001114753.3(ENG):c.164del (p.Ala55fs)
|
rs1831081460
|
|
NM_001114753.3(ENG):c.166C>T (p.Gln56Ter)
|
rs1588596879
|
|
NM_001114753.3(ENG):c.16C>T (p.Leu6Phe)
|
|
|
NM_001114753.3(ENG):c.170C>G (p.Ala57Gly)
|
|
|
NM_001114753.3(ENG):c.171C>T (p.Ala57=)
|
|
|
NM_001114753.3(ENG):c.1742-8C>T
|
rs1296395453
|
|
NM_001114753.3(ENG):c.1742-9C>T
|
rs1362579633
|
|
NM_001114753.3(ENG):c.1744T>G (p.Cys582Gly)
|
rs1830304920
|
|
NM_001114753.3(ENG):c.1748C>G (p.Thr583Arg)
|
|
|
NM_001114753.3(ENG):c.1748C>T (p.Thr583Ile)
|
|
|
NM_001114753.3(ENG):c.1759C>T (p.Leu587Phe)
|
rs747196026
|
|
NM_001114753.3(ENG):c.176A>G (p.Asn59Ser)
|
|
|
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.1780G>A (p.Gly594Ser)
|
rs1060501409
|
|
NM_001114753.3(ENG):c.1786A>G (p.Thr596Ala)
|
rs1830302512
|
|
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.1804del (p.Ile602fs)
|
rs1085307435
|
|
NM_001114753.3(ENG):c.1807G>A (p.Gly603Arg)
|
rs1830302008
|
|
NM_001114753.3(ENG):c.1815G>A (p.Leu605=)
|
rs2131871479
|
|
NM_001114753.3(ENG):c.1826C>T (p.Ala609Val)
|
|
|
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+1G>C
|
rs2131871398
|
|
NM_001114753.3(ENG):c.1852+20A>G
|
|
|
NM_001114753.3(ENG):c.1852+21C>T
|
|
|
NM_001114753.3(ENG):c.1852+23G>A
|
|
|
NM_001114753.3(ENG):c.1852+25G>A
|
|
|
NM_001114753.3(ENG):c.1852+36G>T
|
rs1588572388
|
|
NM_001114753.3(ENG):c.1852+3G>A
|
|
|
NM_001114753.3(ENG):c.1852+51C>G
|
rs373626498
|
|
NM_001114753.3(ENG):c.1852C>G (p.Arg618Gly)
|
|
|
NM_001114753.3(ENG):c.1853-14GCTCCC[3]
|
rs373296026
|
|
NM_001114753.3(ENG):c.1853G>T (p.Arg618Leu)
|
rs1085307436
|
|
NM_001114753.3(ENG):c.187G>T (p.Glu63Ter)
|
rs1588596830
|
|
NM_001114753.3(ENG):c.189A>G (p.Glu63=)
|
|
|
NM_001114753.3(ENG):c.1928G>A (p.Ser643Asn)
|
|
|
NM_001114753.3(ENG):c.192C>T (p.Val64=)
|
|
|
NM_001114753.3(ENG):c.194A>G (p.His65Arg)
|
rs1267116267
|
|
NM_001114753.3(ENG):c.1977G>A (p.Ter659=)
|
rs1337723089
|
|
NM_001114753.3(ENG):c.198C>T (p.Val66=)
|
|
|
NM_001114753.3(ENG):c.1A>C (p.Met1Leu)
|
rs1060501418
|
|
NM_001114753.3(ENG):c.1A>G (p.Met1Val)
|
rs1060501418
|
|
NM_001114753.3(ENG):c.200T>C (p.Leu67Pro)
|
rs2131918396
|
|
NM_001114753.3(ENG):c.208G>T (p.Glu70Ter)
|
rs1179814153
|
|
NM_001114753.3(ENG):c.214C>T (p.Pro72Ser)
|
rs1831079928
|
|
NM_001114753.3(ENG):c.218_219insTCCA (p.Gly74fs)
|
|
|
NM_001114753.3(ENG):c.219+12A>G
|
|
|
NM_001114753.3(ENG):c.219+13T>A
|
|
|
NM_001114753.3(ENG):c.219+1G>A
|
rs1554812253
|
|
NM_001114753.3(ENG):c.219+20G>T
|
|
|
NM_001114753.3(ENG):c.219+2T>C
|
rs2131918332
|
|
NM_001114753.3(ENG):c.219+2T>G
|
|
|
NM_001114753.3(ENG):c.219+4_219+7del
|
|
|
NM_001114753.3(ENG):c.219+5G>A
|
rs1554812252
|
|
NM_001114753.3(ENG):c.219+5G>T
|
rs1554812252
|
|
NM_001114753.3(ENG):c.219G>A (p.Thr73=)
|
rs755348996
|
|
NM_001114753.3(ENG):c.219G>T (p.Thr73=)
|
rs755348996
|
|
NM_001114753.3(ENG):c.220-11G>C
|
|
|
NM_001114753.3(ENG):c.220-12T>A
|
|
|
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.220-1G>A
|
rs1554810936
|
|
NM_001114753.3(ENG):c.220-225_991+123del
|
|
|
NM_001114753.3(ENG):c.220-226_1134+331del
|
|
|
NM_001114753.3(ENG):c.220-6C>A
|
rs756342212
|
|
NM_001114753.3(ENG):c.220-6C>T
|
rs756342212
|
|
NM_001114753.3(ENG):c.220-988_1134+331del
|
|
|
NM_001114753.3(ENG):c.221G>C (p.Gly74Ala)
|
|
|
NM_001114753.3(ENG):c.223C>A (p.Pro75Thr)
|
|
|
NM_001114753.3(ENG):c.223C>T (p.Pro75Ser)
|
rs376186413
|
|
NM_001114753.3(ENG):c.224del (p.Pro75fs)
|
rs1554810932
|
|
NM_001114753.3(ENG):c.229C>T (p.Gln77Ter)
|
rs1588585997
|
|
NM_001114753.3(ENG):c.229del (p.Gln77fs)
|
rs1554810928
|
|
NM_001114753.3(ENG):c.232C>T (p.Leu78=)
|
rs1060504229
|
|
NM_001114753.3(ENG):c.233dup (p.Glu79fs)
|
|
|
NM_001114753.3(ENG):c.235G>T (p.Glu79Ter)
|
rs763992842
|
|
NM_001114753.3(ENG):c.238C>T (p.Leu80=)
|
|
|
NM_001114753.3(ENG):c.239T>C (p.Leu80Pro)
|
rs1830718809
|
|
NM_001114753.3(ENG):c.239del (p.Leu80fs)
|
|
|
NM_001114753.3(ENG):c.23T>C (p.Leu8Pro)
|
rs1564466414
|
|
NM_001114753.3(ENG):c.244del (p.Leu82fs)
|
rs1554810921
|
|
NM_001114753.3(ENG):c.247C>T (p.Gln83Ter)
|
rs863223532
|
|
NM_001114753.3(ENG):c.255C>T (p.Ser85=)
|
rs2131895211
|
|
NM_001114753.3(ENG):c.259C>T (p.Gln87Ter)
|
rs730880096
|
|
NM_001114753.3(ENG):c.266G>C (p.Gly89Ala)
|
|
|
NM_001114753.3(ENG):c.268_274del (p.Thr90fs)
|
|
|
NM_001114753.3(ENG):c.269C>T (p.Thr90Ile)
|
|
|
NM_001114753.3(ENG):c.26C>G (p.Ala9Gly)
|
|
|
NM_001114753.3(ENG):c.272G>A (p.Trp91Ter)
|
|
|
NM_001114753.3(ENG):c.277C>G (p.Arg93Gly)
|
|
|
NM_001114753.3(ENG):c.277C>T (p.Arg93Ter)
|
rs886039506
|
|
NM_001114753.3(ENG):c.277dup (p.Arg93fs)
|
rs1830717066
|
|
NM_001114753.3(ENG):c.278del (p.Arg93fs)
|
|
|
NM_001114753.3(ENG):c.27T>C (p.Ala9=)
|
rs2131936584
|
|
NM_001114753.3(ENG):c.280G>T (p.Glu94Ter)
|
rs1588585941
|
|
NM_001114753.3(ENG):c.283G>T (p.Val95Leu)
|
|
|
NM_001114753.3(ENG):c.285G>A (p.Val95=)
|
rs1644523483
|
|
NM_001114753.3(ENG):c.290T>G (p.Leu97Arg)
|
rs2131895129
|
|
NM_001114753.3(ENG):c.293T>A (p.Val98Asp)
|
rs1830715947
|
|
NM_001114753.3(ENG):c.296T>A (p.Leu99His)
|
rs2131895111
|
|
NM_001114753.3(ENG):c.297C>T (p.Leu99=)
|
rs2131895105
|
|
NM_001114753.3(ENG):c.298_299del (p.Ser100fs)
|
rs1830715784
|
|
NM_001114753.3(ENG):c.2T>C (p.Met1Thr)
|
rs267606783
|
|
NM_001114753.3(ENG):c.2T>G (p.Met1Arg)
|
rs267606783
|
|
NM_001114753.3(ENG):c.310A>C (p.Ser104Arg)
|
rs757343854
|
|
NM_001114753.3(ENG):c.314T>A (p.Val105Asp)
|
rs1588585880
|
|
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.320T>G (p.Leu107Arg)
|
|
|
NM_001114753.3(ENG):c.320_328del (p.Leu107_Leu109del)
|
rs1830714023
|
|
NM_001114753.3(ENG):c.321_322delinsTT (p.His108Tyr)
|
rs1060501425
|
|
NM_001114753.3(ENG):c.327C>G (p.Leu109=)
|
|
|
NM_001114753.3(ENG):c.328C>T (p.Gln110Ter)
|
rs1830713927
|
|
NM_001114753.3(ENG):c.32C>T (p.Ala11Val)
|
|
|
NM_001114753.3(ENG):c.331G>A (p.Ala111Thr)
|
|
|
NM_001114753.3(ENG):c.332C>T (p.Ala111Val)
|
rs1029247883
|
|
NM_001114753.3(ENG):c.343C>T (p.Pro115Ser)
|
rs759368120
|
|
NM_001114753.3(ENG):c.348G>A (p.Leu116=)
|
rs1205469132
|
|
NM_001114753.3(ENG):c.350A>C (p.His117Pro)
|
rs1588585799
|
|
NM_001114753.3(ENG):c.359A>G (p.Tyr120Cys)
|
rs863223533
|
|
NM_001114753.3(ENG):c.35T>C (p.Leu12Pro)
|
rs1829096574
|
|
NM_001114753.3(ENG):c.35T>G (p.Leu12Arg)
|
|
|
NM_001114753.3(ENG):c.360+12C>G
|
rs1830711464
|
|
NM_001114753.3(ENG):c.360+1G>A
|
rs886039505
|
|
NM_001114753.3(ENG):c.360+1G>C
|
rs886039505
|
|
NM_001114753.3(ENG):c.360+1G>T
|
rs886039505
|
|
NM_001114753.3(ENG):c.360+2T>C
|
|
|
NM_001114753.3(ENG):c.360+2dup
|
|
|
NM_001114753.3(ENG):c.360+4A>G
|
rs1564457752
|
|
NM_001114753.3(ENG):c.360+4_360+7del
|
rs2131894927
|
|
NM_001114753.3(ENG):c.360+5G>A
|
rs1060501417
|
|
NM_001114753.3(ENG):c.360+5G>C
|
rs1060501417
|
|
NM_001114753.3(ENG):c.360C>A (p.Tyr120Ter)
|
rs121918402
|
|
NM_001114753.3(ENG):c.361-11T>A
|
|
|
NM_001114753.3(ENG):c.361-2A>T
|
|
|
NM_001114753.3(ENG):c.361-36_370del
|
rs2131890746
|
|
NM_001114753.3(ENG):c.370C>G (p.Leu124Val)
|
|
|
NM_001114753.3(ENG):c.370del (p.Leu124fs)
|
rs1830624241
|
|
NM_001114753.3(ENG):c.373G>C (p.Val125Leu)
|
rs1564456745
|
|
NM_001114753.3(ENG):c.374T>A (p.Val125Asp)
|
rs750115837
|
|
NM_001114753.3(ENG):c.375_378dup (p.Phe127fs)
|
rs2131890702
|
|
NM_001114753.3(ENG):c.37C>A (p.Leu13Met)
|
|
|
NM_001114753.3(ENG):c.387G>A (p.Glu129=)
|
rs1588583668
|
|
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.392del (p.Pro131fs)
|
rs1554810510
|
|
NM_001114753.3(ENG):c.392dup (p.Val133fs)
|
|
|
NM_001114753.3(ENG):c.396_397delinsAA (p.Val133Ile)
|
rs1554810507
|
|
NM_001114753.3(ENG):c.397G>T (p.Val133Phe)
|
|
|
NM_001114753.3(ENG):c.397del (p.Val133fs)
|
rs1588583640
|
|
NM_001114753.3(ENG):c.397dup (p.Val133fs)
|
rs1588583640
|
|
NM_001114753.3(ENG):c.39del (p.Leu14fs)
|
rs1829096531
|
|
NM_001114753.3(ENG):c.3G>A (p.Met1Ile)
|
|
|
NM_001114753.3(ENG):c.400A>G (p.Asn134Asp)
|
|
|
NM_001114753.3(ENG):c.405dup (p.Thr136fs)
|
rs2131890631
|
|
NM_001114753.3(ENG):c.408del (p.Glu137fs)
|
rs1554810506
|
|
NM_001114753.3(ENG):c.410A>G (p.Glu137Gly)
|
|
|
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.41T>C (p.Leu14Pro)
|
rs1554813788
|
|
NM_001114753.3(ENG):c.41_51dup (p.Ser18fs)
|
|
|
NM_001114753.3(ENG):c.41del (p.Leu14fs)
|
|
|
NM_001114753.3(ENG):c.428A>C (p.Lys143Thr)
|
|
|
NM_001114753.3(ENG):c.435G>C (p.Gln145His)
|
|
|
NM_001114753.3(ENG):c.437del (p.Ile146fs)
|
|
|
NM_001114753.3(ENG):c.441T>A (p.Leu147=)
|
|
|
NM_001114753.3(ENG):c.441T>C (p.Leu147=)
|
|
|
NM_001114753.3(ENG):c.447G>C (p.Trp149Cys)
|
rs878853657
|
|
NM_001114753.3(ENG):c.451G>T (p.Ala151Ser)
|
rs2131890519
|
|
NM_001114753.3(ENG):c.456G>A (p.Glu152=)
|
rs1588583553
|
|
NM_001114753.3(ENG):c.457A>G (p.Arg153Gly)
|
|
|
NM_001114753.3(ENG):c.457A>T (p.Arg153Trp)
|
rs1323149703
|
|
NM_001114753.3(ENG):c.457_458del (p.Arg153fs)
|
rs2131890509
|
|
NM_001114753.3(ENG):c.45C>T (p.Ala15=)
|
|
|
NM_001114753.3(ENG):c.461dup (p.Ile156fs)
|
rs1830620889
|
|
NM_001114753.3(ENG):c.463_486del (p.Pro155_Leu162del)
|
|
|
NM_001114753.3(ENG):c.465dup (p.Ile156fs)
|
rs2131890499
|
|
NM_001114753.3(ENG):c.468del (p.Thr157fs)
|
rs1830620832
|
|
NM_001114753.3(ENG):c.478dup (p.Ala160fs)
|
|
|
NM_001114753.3(ENG):c.482A>C (p.Glu161Ala)
|
|
|
NM_001114753.3(ENG):c.485T>C (p.Leu162Pro)
|
rs2131890481
|
|
NM_001114753.3(ENG):c.487A>T (p.Asn163Tyr)
|
rs539165395
|
|
NM_001114753.3(ENG):c.488_491del (p.Asn163fs)
|
rs1588583530
|
|
NM_001114753.3(ENG):c.494C>T (p.Pro165Leu)
|
rs1830620321
|
|
NM_001114753.3(ENG):c.496del (p.Gln166fs)
|
rs1830620247
|
|
NM_001114753.3(ENG):c.496dup (p.Gln166fs)
|
rs1830620247
|
|
NM_001114753.3(ENG):c.497A>C (p.Gln166Pro)
|
rs994887264
|
|
NM_001114753.3(ENG):c.497A>G (p.Gln166Arg)
|
|
|
NM_001114753.3(ENG):c.498G>C (p.Gln166His)
|
rs1167818567
|
|
NM_001114753.3(ENG):c.500G>T (p.Ser167Ile)
|
rs755988915
|
|
NM_001114753.3(ENG):c.501C>A (p.Ser167Arg)
|
rs1830619812
|
|
NM_001114753.3(ENG):c.501C>T (p.Ser167=)
|
|
|
NM_001114753.3(ENG):c.503T>A (p.Ile168Asn)
|
rs2131890414
|
|
NM_001114753.3(ENG):c.503TCC[4] (p.Leu170_Arg171insLeu)
|
rs1830619692
|
|
NM_001114753.3(ENG):c.505C>T (p.Leu169Phe)
|
rs2131890408
|
|
NM_001114753.3(ENG):c.507C>T (p.Leu169=)
|
rs750014839
|
|
NM_001114753.3(ENG):c.511C>T (p.Arg171Ter)
|
rs1554810490
|
|
NM_001114753.3(ENG):c.512G>T (p.Arg171Leu)
|
|
|
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.523+1G>A
|
rs113930974
|
|
NM_001114753.3(ENG):c.523+1G>C
|
rs113930974
|
|
NM_001114753.3(ENG):c.523+229_991+123del
|
|
|
NM_001114753.3(ENG):c.523G>T (p.Ala175Ser)
|
rs1588583488
|
|
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.524-1G>A
|
rs2131889572
|
|
NM_001114753.3(ENG):c.524-1_689+1del
|
rs1830595697
|
|
NM_001114753.3(ENG):c.527del (p.Gln176fs)
|
rs1830603743
|
|
NM_001114753.3(ENG):c.530G>A (p.Gly177Glu)
|
rs1830603623
|
|
NM_001114753.3(ENG):c.536T>C (p.Leu179Pro)
|
|
|
NM_001114753.3(ENG):c.547A>G (p.Met183Val)
|
rs1830603171
|
|
NM_001114753.3(ENG):c.549G>A (p.Met183Ile)
|
|
|
NM_001114753.3(ENG):c.556G>A (p.Ala186Thr)
|
rs1427261977
|
|
NM_001114753.3(ENG):c.558del (p.Ser187fs)
|
rs2131889490
|
|
NM_001114753.3(ENG):c.561C>A (p.Ser187Arg)
|
|
|
NM_001114753.3(ENG):c.562C>T (p.Gln188Ter)
|
rs863223537
|
|
NM_001114753.3(ENG):c.562dup (p.Gln188fs)
|
rs1588582962
|
|
NM_001114753.3(ENG):c.565G>A (p.Asp189Asn)
|
rs147792018
|
|
NM_001114753.3(ENG):c.565G>T (p.Asp189Tyr)
|
rs147792018
|
|
NM_001114753.3(ENG):c.568A>G (p.Met190Val)
|
|
|
NM_001114753.3(ENG):c.569T>A (p.Met190Lys)
|
rs1830602163
|
|
NM_001114753.3(ENG):c.571_573delinsTG (p.Gly191fs)
|
rs1830601919
|
|
NM_001114753.3(ENG):c.572del (p.Gly191fs)
|
rs1564456374
|
|
NM_001114753.3(ENG):c.574C>G (p.Arg192Gly)
|
rs537215880
|
|
NM_001114753.3(ENG):c.574C>T (p.Arg192Cys)
|
|
|
NM_001114753.3(ENG):c.575_577dup (p.Arg192_Thr193insSer)
|
|
|
NM_001114753.3(ENG):c.576C>G (p.Arg192=)
|
|
|
NM_001114753.3(ENG):c.577A>G (p.Thr193Ala)
|
rs1588582905
|
|
NM_001114753.3(ENG):c.577_588delinsGT (p.Thr193fs)
|
rs1830601036
|
|
NM_001114753.3(ENG):c.578C>T (p.Thr193Met)
|
rs775442178
|
|
NM_001114753.3(ENG):c.579_580del (p.Leu194fs)
|
|
|
NM_001114753.3(ENG):c.580_596del (p.Leu194fs)
|
rs2131889284
|
|
NM_001114753.3(ENG):c.581T>C (p.Leu194Pro)
|
rs2131889364
|
|
NM_001114753.3(ENG):c.581_592del (p.Leu194_Arg197del)
|
rs1554810408
|
|
NM_001114753.3(ENG):c.581_605del (p.Leu194fs)
|
|
|
NM_001114753.3(ENG):c.583G>A (p.Glu195Lys)
|
rs1255912441
|
|
NM_001114753.3(ENG):c.583G>C (p.Glu195Gln)
|
rs1255912441
|
|
NM_001114753.3(ENG):c.585G>C (p.Glu195Asp)
|
|
|
NM_001114753.3(ENG):c.586T>A (p.Trp196Arg)
|
rs2131889336
|
|
NM_001114753.3(ENG):c.586T>C (p.Trp196Arg)
|
rs2131889336
|
|
NM_001114753.3(ENG):c.587G>A (p.Trp196Ter)
|
rs1588582870
|
|
NM_001114753.3(ENG):c.588G>A (p.Trp196Ter)
|
rs1588582860
|
|
NM_001114753.3(ENG):c.591G>A (p.Arg197=)
|
|
|
NM_001114753.3(ENG):c.592C>A (p.Pro198Thr)
|
rs902721446
|
|
NM_001114753.3(ENG):c.593C>G (p.Pro198Arg)
|
rs777633247
|
|
NM_001114753.3(ENG):c.595_596dup (p.Thr200fs)
|
rs1554810405
|
|
NM_001114753.3(ENG):c.595dup (p.Arg199fs)
|
|
|
NM_001114753.3(ENG):c.600_603dup (p.Ala202fs)
|
rs1830599875
|
|
NM_001114753.3(ENG):c.602C>A (p.Pro201Gln)
|
|
|
NM_001114753.3(ENG):c.605C>A (p.Ala202Asp)
|
rs750916329
|
|
NM_001114753.3(ENG):c.606C>T (p.Ala202=)
|
rs2131889233
|
|
NM_001114753.3(ENG):c.613C>A (p.Arg205=)
|
|
|
NM_001114753.3(ENG):c.613dup (p.Arg205fs)
|
|
|
NM_001114753.3(ENG):c.614G>A (p.Arg205Gln)
|
rs751778614
|
|
NM_001114753.3(ENG):c.614G>C (p.Arg205Pro)
|
|
|
NM_001114753.3(ENG):c.615G>T (p.Arg205=)
|
rs2131889212
|
|
NM_001114753.3(ENG):c.617del (p.Gly206fs)
|
rs1830599423
|
|
NM_001114753.3(ENG):c.618C>A (p.Gly206=)
|
rs1830599217
|
|
NM_001114753.3(ENG):c.619T>C (p.Cys207Arg)
|
rs2131889169
|
|
NM_001114753.3(ENG):c.620G>A (p.Cys207Tyr)
|
rs1830599119
|
|
NM_001114753.3(ENG):c.620G>T (p.Cys207Phe)
|
rs1830599119
|
|
NM_001114753.3(ENG):c.621C>A (p.Cys207Ter)
|
rs1440769928
|
|
NM_001114753.3(ENG):c.626T>A (p.Leu209Ter)
|
rs1243079862
|
|
NM_001114753.3(ENG):c.627G>A (p.Leu209=)
|
rs763087751
|
|
NM_001114753.3(ENG):c.635_654del (p.Val212fs)
|
|
|
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.63del (p.Thr22fs)
|
|
|
NM_001114753.3(ENG):c.63dup (p.Thr22fs)
|
rs1829096099
|
|
NM_001114753.3(ENG):c.640_643del (p.Gly214fs)
|
rs864622666
|
|
NM_001114753.3(ENG):c.646A>G (p.Lys216Glu)
|
rs1830597676
|
|
NM_001114753.3(ENG):c.651G>A (p.Glu217=)
|
|
|
NM_001114753.3(ENG):c.654G>C (p.Ala218=)
|
rs773156160
|
|
NM_001114753.3(ENG):c.654_655del (p.Ile220fs)
|
rs2131889054
|
|
NM_001114753.3(ENG):c.657_658del (p.Ile220fs)
|
rs2131889044
|
|
NM_001114753.3(ENG):c.659T>C (p.Ile220Thr)
|
rs1588582695
|
|
NM_001114753.3(ENG):c.65_67+19del
|
|
|
NM_001114753.3(ENG):c.660C>T (p.Ile220=)
|
|
|
NM_001114753.3(ENG):c.662T>C (p.Leu221Pro)
|
rs1554810378
|
|
NM_001114753.3(ENG):c.662T>G (p.Leu221Arg)
|
rs1554810378
|
|
NM_001114753.3(ENG):c.663G>A (p.Leu221=)
|
rs747788064
|
|
NM_001114753.3(ENG):c.665G>A (p.Arg222Lys)
|
|
|
NM_001114753.3(ENG):c.667del (p.Val223fs)
|
rs1588582666
|
|
NM_001114753.3(ENG):c.667dup (p.Val223fs)
|
rs1588582666
|
|
NM_001114753.3(ENG):c.668_685del (p.Val223_Ser228del)
|
rs1830596103
|
|
NM_001114753.3(ENG):c.67+1G>A
|
rs1554813783
|
|
NM_001114753.3(ENG):c.67+20G>T
|
|
|
NM_001114753.3(ENG):c.67+2T>C
|
rs2131936480
|
|
NM_001114753.3(ENG):c.67+5G>T
|
|
|
NM_001114753.3(ENG):c.67+6_67+14del
|
rs2131936455
|
|
NM_001114753.3(ENG):c.672G>A (p.Leu224=)
|
rs746358974
|
|
NM_001114753.3(ENG):c.673C>A (p.Pro225Thr)
|
|
|
NM_001114753.3(ENG):c.673C>G (p.Pro225Ala)
|
rs1554810373
|
|
NM_001114753.3(ENG):c.673C>T (p.Pro225Ser)
|
rs1554810373
|
|
NM_001114753.3(ENG):c.674C>A (p.Pro225Gln)
|
|
|
NM_001114753.3(ENG):c.674C>G (p.Pro225Arg)
|
|
|
NM_001114753.3(ENG):c.674del (p.Pro225fs)
|
rs1830596596
|
|
NM_001114753.3(ENG):c.679_689+7del
|
|
|
NM_001114753.3(ENG):c.67A>C (p.Ser23Arg)
|
|
|
NM_001114753.3(ENG):c.67del (p.Ser23fs)
|
rs878853658
|
|
NM_001114753.3(ENG):c.68-18C>A
|
rs372807542
|
|
NM_001114753.3(ENG):c.68-1G>A
|
rs878853659
|
|
NM_001114753.3(ENG):c.68-2A>T
|
|
|
NM_001114753.3(ENG):c.68-3C>G
|
rs773334730
|
|
NM_001114753.3(ENG):c.68-4227_219+104del
|
|
|
NM_001114753.3(ENG):c.68-4A>G
|
rs1564462843
|
|
NM_001114753.3(ENG):c.682T>A (p.Ser228Thr)
|
rs2131888946
|
|
NM_001114753.3(ENG):c.682_686del (p.Ser228fs)
|
rs1085307430
|
|
NM_001114753.3(ENG):c.683C>A (p.Ser228Ter)
|
rs1452543778
|
|
NM_001114753.3(ENG):c.688G>A (p.Gly230Arg)
|
rs546671241
|
|
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+1G>A
|
rs1588582594
|
|
NM_001114753.3(ENG):c.689+1G>T
|
|
|
NM_001114753.3(ENG):c.689+20C>A
|
|
|
NM_001114753.3(ENG):c.689+21_689+22del
|
|
|
NM_001114753.3(ENG):c.689+2T>A
|
rs863223535
|
|
NM_001114753.3(ENG):c.689+3A>T
|
|
|
NM_001114753.3(ENG):c.68G>C (p.Ser23Thr)
|
rs1253367171
|
|
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.690-1G>A
|
rs1554810272
|
|
NM_001114753.3(ENG):c.690-1G>C
|
rs1554810272
|
|
NM_001114753.3(ENG):c.690-2A>G
|
rs1564455970
|
|
NM_001114753.3(ENG):c.690-2A>T
|
rs1564455970
|
|
NM_001114753.3(ENG):c.690-5C>A
|
|
|
NM_001114753.3(ENG):c.692C>A (p.Pro231His)
|
rs1289232116
|
|
NM_001114753.3(ENG):c.694_699del (p.Arg232_Thr233del)
|
rs2131888057
|
|
NM_001114753.3(ENG):c.695G>T (p.Arg232Leu)
|
rs772467926
|
|
NM_001114753.3(ENG):c.697_699del (p.Thr233del)
|
|
|
NM_001114753.3(ENG):c.698CGGTGA[1] (p.233TV[1])
|
rs1588582060
|
|
NM_001114753.3(ENG):c.699G>A (p.Thr233=)
|
|
|
NM_001114753.3(ENG):c.704C>A (p.Thr235Lys)
|
rs1361480439
|
|
NM_001114753.3(ENG):c.705G>C (p.Thr235=)
|
rs755116051
|
|
NM_001114753.3(ENG):c.706G>A (p.Val236Met)
|
|
|
NM_001114753.3(ENG):c.706_708del (p.Val236del)
|
rs1064794221
|
|
NM_001114753.3(ENG):c.707T>A (p.Val236Glu)
|
rs1588582073
|
|
NM_001114753.3(ENG):c.712G>T (p.Val238Leu)
|
|
|
NM_001114753.3(ENG):c.713T>A (p.Val238Glu)
|
rs1060501415
|
|
NM_001114753.3(ENG):c.715G>T (p.Glu239Ter)
|
rs1064794220
|
|
NM_001114753.3(ENG):c.715dup (p.Glu239fs)
|
rs1554810257
|
|
NM_001114753.3(ENG):c.716A>T (p.Glu239Val)
|
|
|
NM_001114753.3(ENG):c.718C>T (p.Leu240=)
|
|
|
NM_001114753.3(ENG):c.720G>A (p.Leu240=)
|
|
|
NM_001114753.3(ENG):c.721_725del (p.Ser241fs)
|
rs1064794219
|
|
NM_001114753.3(ENG):c.728C>T (p.Ala243Val)
|
|
|
NM_001114753.3(ENG):c.729A>C (p.Ala243=)
|
rs1242657224
|
|
NM_001114753.3(ENG):c.736del (p.Asp246fs)
|
rs1554810249
|
|
NM_001114753.3(ENG):c.743del (p.Asp248fs)
|
rs1588581961
|
|
NM_001114753.3(ENG):c.747C>G (p.Ala249=)
|
|
|
NM_001114753.3(ENG):c.752T>A (p.Leu251His)
|
|
|
NM_001114753.3(ENG):c.752_768del (p.Leu251fs)
|
rs1830580547
|
|
NM_001114753.3(ENG):c.753C>T (p.Leu251=)
|
rs1830581337
|
|
NM_001114753.3(ENG):c.753_781del (p.Ile252fs)
|
rs1588581867
|
|
NM_001114753.3(ENG):c.754_756del (p.Ile252del)
|
|
|
NM_001114753.3(ENG):c.755T>C (p.Ile252Thr)
|
rs2131887851
|
|
NM_001114753.3(ENG):c.761_767dup (p.Pro257fs)
|
rs1830580607
|
|
NM_001114753.3(ENG):c.763G>T (p.Gly255Cys)
|
rs1830580925
|
|
NM_001114753.3(ENG):c.764G>T (p.Gly255Val)
|
rs2131887828
|
|
NM_001114753.3(ENG):c.765del (p.Tyr258fs)
|
rs1554810232
|
|
NM_001114753.3(ENG):c.766C>T (p.Pro256Ser)
|
rs143779963
|
|
NM_001114753.3(ENG):c.766_776del (p.Pro256fs)
|
rs1830579764
|
|
NM_001114753.3(ENG):c.767_786del (p.Pro256fs)
|
rs2131887701
|
|
NM_001114753.3(ENG):c.769C>G (p.Pro257Ala)
|
rs1830580408
|
|
NM_001114753.3(ENG):c.770C>T (p.Pro257Leu)
|
rs756252418
|
|
NM_001114753.3(ENG):c.770_771del (p.Pro257fs)
|
rs1588581902
|
|
NM_001114753.3(ENG):c.771del (p.Tyr258fs)
|
rs1588581902
|
|
NM_001114753.3(ENG):c.771dup (p.Tyr258fs)
|
rs1588581902
|
|
NM_001114753.3(ENG):c.772del (p.Tyr258fs)
|
rs1830580093
|
|
NM_001114753.3(ENG):c.773_776delinsGCAGGGTC (p.Tyr258fs)
|
|
|
NM_001114753.3(ENG):c.774C>A (p.Tyr258Ter)
|
rs537154767
|
|
NM_001114753.3(ENG):c.774C>G (p.Tyr258Ter)
|
rs537154767
|
|
NM_001114753.3(ENG):c.775G>A (p.Val259Met)
|
|
|
NM_001114753.3(ENG):c.776T>G (p.Val259Gly)
|
rs895393705
|
|
NM_001114753.3(ENG):c.776del (p.Val259fs)
|
rs1588581880
|
|
NM_001114753.3(ENG):c.777G>T (p.Val259=)
|
rs2131887746
|
|
NM_001114753.3(ENG):c.777_778dup (p.Ser260fs)
|
rs1830579577
|
|
NM_001114753.3(ENG):c.778dup (p.Ser260fs)
|
rs2131887737
|
|
NM_001114753.3(ENG):c.780_789dup (p.Asp264fs)
|
rs1588581846
|
|
NM_001114753.3(ENG):c.782G>A (p.Trp261Ter)
|
rs1060501420
|
|
NM_001114753.3(ENG):c.782G>T (p.Trp261Leu)
|
rs1060501420
|
|
NM_001114753.3(ENG):c.787_789del (p.Ile263del)
|
rs1830579035
|
|
NM_001114753.3(ENG):c.788T>A (p.Ile263Asn)
|
rs1085307431
|
|
NM_001114753.3(ENG):c.788T>G (p.Ile263Ser)
|
rs1085307431
|
|
NM_001114753.3(ENG):c.789C>T (p.Ile263=)
|
|
|
NM_001114753.3(ENG):c.790_798del (p.Asp264_Asn266del)
|
rs2131887656
|
|
NM_001114753.3(ENG):c.794C>A (p.Ala265Asp)
|
rs2131887657
|
|
NM_001114753.3(ENG):c.799_804del (p.His267_Asn268del)
|
rs1588581812
|
|
NM_001114753.3(ENG):c.79A>G (p.Thr27Ala)
|
|
|
NM_001114753.3(ENG):c.7C>G (p.Arg3Gly)
|
rs139334561
|
|
NM_001114753.3(ENG):c.806T>A (p.Met269Lys)
|
rs752331196
|
|
NM_001114753.3(ENG):c.806T>C (p.Met269Thr)
|
rs752331196
|
|
NM_001114753.3(ENG):c.806T>G (p.Met269Arg)
|
rs752331196
|
|
NM_001114753.3(ENG):c.808C>T (p.Gln270Ter)
|
rs1554810215
|
|
NM_001114753.3(ENG):c.809A>G (p.Gln270Arg)
|
|
|
NM_001114753.3(ENG):c.815G>A (p.Trp272Ter)
|
rs1588581785
|
|
NM_001114753.3(ENG):c.816+11C>T
|
|
|
NM_001114753.3(ENG):c.816+13C>T
|
|
|
NM_001114753.3(ENG):c.816+1G>A
|
rs111471193
|
|
NM_001114753.3(ENG):c.816+20C>T
|
|
|
NM_001114753.3(ENG):c.816+2T>C
|
|
|
NM_001114753.3(ENG):c.816+8G>A
|
|
|
NM_001114753.3(ENG):c.816+9T>A
|
rs1830577813
|
|
NM_001114753.3(ENG):c.816G>A (p.Trp272Ter)
|
rs886041326
|
|
NM_001114753.3(ENG):c.817-1G>A
|
rs1564455715
|
|
NM_001114753.3(ENG):c.817-1G>C
|
rs1564455715
|
|
NM_001114753.3(ENG):c.817-3T>C
|
|
|
NM_001114753.3(ENG):c.818C>T (p.Thr273Ile)
|
rs727503038
|
|
NM_001114753.3(ENG):c.819C>T (p.Thr273=)
|
rs2131887210
|
|
NM_001114753.3(ENG):c.821C>T (p.Thr274Ile)
|
rs1169613826
|
|
NM_001114753.3(ENG):c.822T>C (p.Thr274=)
|
rs2131887195
|
|
NM_001114753.3(ENG):c.824G>A (p.Gly275Glu)
|
rs2131887192
|
|
NM_001114753.3(ENG):c.825A>G (p.Gly275=)
|
|
|
NM_001114753.3(ENG):c.828del (p.Glu276fs)
|
|
|
NM_001114753.3(ENG):c.829T>C (p.Tyr277His)
|
rs1460443094
|
|
NM_001114753.3(ENG):c.830A>G (p.Tyr277Cys)
|
|
|
NM_001114753.3(ENG):c.831C>A (p.Tyr277Ter)
|
rs121918400
|
|
NM_001114753.3(ENG):c.831C>G (p.Tyr277Ter)
|
rs121918400
|
|
NM_001114753.3(ENG):c.832T>C (p.Ser278Pro)
|
|
|
NM_001114753.3(ENG):c.836T>G (p.Phe279Cys)
|
|
|
NM_001114753.3(ENG):c.836del (p.Phe279fs)
|
rs2131887155
|
|
NM_001114753.3(ENG):c.838A>T (p.Lys280Ter)
|
rs1588581497
|
|
NM_001114753.3(ENG):c.844T>G (p.Phe282Val)
|
|
|
NM_001114753.3(ENG):c.851del (p.Glu284fs)
|
rs2131887114
|
|
NM_001114753.3(ENG):c.854A>G (p.Lys285Arg)
|
|
|
NM_001114753.3(ENG):c.862C>T (p.Arg288Cys)
|
|
|
NM_001114753.3(ENG):c.863_867dup (p.Phe290fs)
|
rs2131887087
|
|
NM_001114753.3(ENG):c.866G>A (p.Gly289Asp)
|
rs1830570208
|
|
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.872_874delinsT (p.Lys291fs)
|
|
|
NM_001114753.3(ENG):c.872_883del (p.Lys291_Asp294del)
|
rs2131887067
|
|
NM_001114753.3(ENG):c.875dup (p.Asp294fs)
|
|
|
NM_001114753.3(ENG):c.880_881del (p.Asp294fs)
|
rs886042916
|
|
NM_001114753.3(ENG):c.882_920del (p.Thr295_Asn307del)
|
rs2131886961
|
|
NM_001114753.3(ENG):c.884C>T (p.Thr295Ile)
|
rs12042
|
|
NM_001114753.3(ENG):c.885_886del (p.Pro296fs)
|
|
|
NM_001114753.3(ENG):c.889C>G (p.Gln297Glu)
|
rs1830569895
|
|
NM_001114753.3(ENG):c.88T>A (p.Cys30Ser)
|
rs1564462834
|
|
NM_001114753.3(ENG):c.88T>C (p.Cys30Arg)
|
rs1564462834
|
|
NM_001114753.3(ENG):c.895C>G (p.Leu299Val)
|
|
|
NM_001114753.3(ENG):c.896T>G (p.Leu299Arg)
|
rs1830569662
|
|
NM_001114753.3(ENG):c.899T>C (p.Leu300Pro)
|
rs1335718486
|
|
NM_001114753.3(ENG):c.899_901delinsC (p.Leu300fs)
|
rs1830569401
|
|
NM_001114753.3(ENG):c.89G>A (p.Cys30Tyr)
|
|
|
NM_001114753.3(ENG):c.8G>A (p.Arg3His)
|
rs1588604597
|
|
NM_001114753.3(ENG):c.901G>C (p.Gly301Arg)
|
rs1830569316
|
|
NM_001114753.3(ENG):c.904G>T (p.Glu302Ter)
|
rs1060501419
|
|
NM_001114753.3(ENG):c.904dup (p.Glu302fs)
|
rs1554810177
|
|
NM_001114753.3(ENG):c.909C>T (p.Ala303=)
|
rs200306464
|
|
NM_001114753.3(ENG):c.910C>G (p.Arg304Gly)
|
rs754842280
|
|
NM_001114753.3(ENG):c.910C>T (p.Arg304Trp)
|
rs754842280
|
|
NM_001114753.3(ENG):c.911_918del (p.Arg304fs)
|
rs1564455604
|
|
NM_001114753.3(ENG):c.919A>G (p.Asn307Asp)
|
rs1830568253
|
|
NM_001114753.3(ENG):c.91G>A (p.Asp31Asn)
|
rs1831084391
|
|
NM_001114753.3(ENG):c.920A>T (p.Asn307Ile)
|
|
|
NM_001114753.3(ENG):c.920dup (p.Asn307fs)
|
rs1554810174
|
|
NM_001114753.3(ENG):c.922dup (p.Ala308fs)
|
rs2131886942
|
|
NM_001114753.3(ENG):c.923C>A (p.Ala308Asp)
|
rs1482440395
|
|
NM_001114753.3(ENG):c.923_925dup (p.Ala308_Ser309insThr)
|
rs1830567981
|
|
NM_001114753.3(ENG):c.924_927dup (p.Ile310fs)
|
|
|
NM_001114753.3(ENG):c.932T>G (p.Val311Gly)
|
|
|
NM_001114753.3(ENG):c.933G>A (p.Val311=)
|
|
|
NM_001114753.3(ENG):c.933G>T (p.Val311=)
|
|
|
NM_001114753.3(ENG):c.934del (p.Ala312fs)
|
rs2131886908
|
|
NM_001114753.3(ENG):c.942C>T (p.Phe314=)
|
rs767171893
|
|
NM_001114753.3(ENG):c.943G>T (p.Val315Leu)
|
|
|
NM_001114753.3(ENG):c.944_945del (p.Val315fs)
|
|
|
NM_001114753.3(ENG):c.950T>A (p.Leu317Gln)
|
|
|
NM_001114753.3(ENG):c.950T>C (p.Leu317Pro)
|
|
|
NM_001114753.3(ENG):c.951_956del (p.Pro318_Leu319del)
|
rs1830567220
|
|
NM_001114753.3(ENG):c.952C>A (p.Pro318Thr)
|
|
|
NM_001114753.3(ENG):c.953C>G (p.Pro318Arg)
|
rs1830567408
|
|
NM_001114753.3(ENG):c.954G>T (p.Pro318=)
|
rs149590262
|
|
NM_001114753.3(ENG):c.955_956insGAAGACAA (p.Leu319fs)
|
|
|
NM_001114753.3(ENG):c.956T>G (p.Leu319Arg)
|
|
|
NM_001114753.3(ENG):c.95T>A (p.Leu32His)
|
|
|
NM_001114753.3(ENG):c.965T>C (p.Ile322Thr)
|
|
|
NM_001114753.3(ENG):c.965_966del (p.Ile322fs)
|
|
|
NM_001114753.3(ENG):c.966T>G (p.Ile322Met)
|
|
|
NM_001114753.3(ENG):c.966dup (p.Val323fs)
|
|
|
NM_001114753.3(ENG):c.967_968del (p.Val323fs)
|
rs1830566817
|
|
NM_001114753.3(ENG):c.96T>C (p.Leu32=)
|
|
|
NM_001114753.3(ENG):c.970T>C (p.Ser324Pro)
|
rs1830566735
|
|
NM_001114753.3(ENG):c.973dup (p.Leu325fs)
|
|
|
NM_001114753.3(ENG):c.974T>A (p.Leu325His)
|
|
|
NM_001114753.3(ENG):c.974T>G (p.Leu325Arg)
|
rs760001916
|
|
NM_001114753.3(ENG):c.982T>A (p.Ser328Thr)
|
|
|
NM_001114753.3(ENG):c.983_984delinsAG (p.Ser328Ter)
|
rs1588581338
|
|
NM_001114753.3(ENG):c.985A>T (p.Ser329Cys)
|
rs1280918470
|
|
NM_001114753.3(ENG):c.989G>T (p.Cys330Phe)
|
|
|
NM_001114753.3(ENG):c.990C>A (p.Cys330Ter)
|
|
|
NM_001114753.3(ENG):c.991+1del
|
|
|
NM_001114753.3(ENG):c.991+2T>A
|
|
|
NM_001114753.3(ENG):c.991+2T>C
|
rs1564455554
|
|
NM_001114753.3(ENG):c.991+2T>G
|
rs1564455554
|
|
NM_001114753.3(ENG):c.991+4A>G
|
rs2131886797
|
|
NM_001114753.3(ENG):c.991+7A>G
|
|
|
NM_001114753.3(ENG):c.991+8C>A
|
rs2131886790
|
|
NM_001114753.3(ENG):c.991G>A (p.Gly331Ser)
|
rs1060501410
|
|
NM_001114753.3(ENG):c.992-2A>G
|
rs1588580932
|
|
NM_001114753.3(ENG):c.992-3C>G
|
rs1830552318
|
|
NM_001114753.3(ENG):c.992-3C>T
|
rs1830552318
|
|
NM_001114753.3(ENG):c.992-49_1046del
|
|
|
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.992G>T (p.Gly331Val)
|
|
|
NM_001114753.3(ENG):c.996T>C (p.Gly332=)
|
rs759964114
|
|
NM_001114753.3(ENG):c.996_997dup (p.Arg333fs)
|
rs2131886094
|
|
NM_001114753.3(ENG):c.997_1001del (p.Arg333fs)
|
|
|
NM_001114753.3(ENG):c.998G>A (p.Arg333Lys)
|
|
|
Single allele
|
|
|