NM_002435.3(MPI):c.1131A>G (p.Val377=)
|
rs1130741
|
0.45813
|
NM_002435.3(MPI):c.345+15G>A
|
rs11638130
|
0.35866
|
NM_002435.3(MPI):c.1053+31G>A
|
rs12593975
|
0.07316
|
NM_002435.3(MPI):c.*58C>T
|
rs2230479
|
0.06346
|
NM_002435.3(MPI):c.684C>T (p.Asn228=)
|
rs139190144
|
0.01985
|
NM_002435.3(MPI):c.345+16C>T
|
rs143242949
|
0.01224
|
NM_002435.3(MPI):c.762C>T (p.Ile254=)
|
rs12440159
|
0.00855
|
NM_002435.3(MPI):c.982C>T (p.Arg328Trp)
|
rs117089191
|
0.00577
|
NM_002435.3(MPI):c.144+16T>A
|
rs138182675
|
0.00434
|
NM_002435.3(MPI):c.144+18T>A
|
rs186045258
|
0.00434
|
NM_002435.3(MPI):c.144+20T>A
|
rs190812626
|
0.00434
|
NM_002435.3(MPI):c.303C>T (p.Leu101=)
|
rs139228075
|
0.00240
|
NM_002435.3(MPI):c.414G>A (p.Met138Ile)
|
rs150217523
|
0.00227
|
NM_002435.3(MPI):c.10C>T (p.Pro4Ser)
|
rs143982014
|
0.00133
|
NM_002435.3(MPI):c.1049C>T (p.Thr350Met)
|
rs116933453
|
0.00095
|
NM_002435.3(MPI):c.670+11T>C
|
rs144118442
|
0.00046
|
NM_002435.3(MPI):c.214A>C (p.Ser72Arg)
|
rs146699267
|
0.00031
|
NM_002435.3(MPI):c.819C>T (p.Asn273=)
|
rs576592379
|
0.00027
|
NM_002435.3(MPI):c.1050G>A (p.Thr350=)
|
rs145431554
|
0.00026
|
NM_002435.3(MPI):c.671-4T>G
|
rs199719453
|
0.00025
|
NM_002435.3(MPI):c.908T>C (p.Ile303Thr)
|
rs139866632
|
0.00024
|
NM_002435.3(MPI):c.573C>T (p.Ala191=)
|
rs200903491
|
0.00022
|
NM_002435.3(MPI):c.656G>A (p.Arg219Gln)
|
rs104894489
|
0.00021
|
NM_002435.3(MPI):c.1178G>C (p.Gly393Ala)
|
rs201815588
|
0.00019
|
NM_002435.3(MPI):c.1125G>A (p.Gly375=)
|
rs552854858
|
0.00016
|
NM_002435.3(MPI):c.1139G>A (p.Ser380Asn)
|
rs141660799
|
0.00015
|
NM_002435.3(MPI):c.977C>G (p.Pro326Arg)
|
rs199956743
|
0.00014
|
NM_002435.3(MPI):c.378G>A (p.Pro126=)
|
rs752948071
|
0.00011
|
NM_002435.3(MPI):c.662C>G (p.Ser221Cys)
|
rs760911969
|
0.00010
|
NM_002435.3(MPI):c.748G>A (p.Gly250Ser)
|
rs748090636
|
0.00010
|
NM_002435.3(MPI):c.167G>A (p.Arg56Gln)
|
rs200452019
|
0.00009
|
NM_002435.3(MPI):c.818A>G (p.Asn273Ser)
|
rs150525282
|
0.00009
|
NM_002435.3(MPI):c.-5C>T
|
rs145533697
|
0.00008
|
NM_002435.3(MPI):c.849C>T (p.Cys283=)
|
rs377419930
|
0.00007
|
NM_002435.3(MPI):c.1269G>A (p.Leu423=)
|
rs371664469
|
0.00006
|
NM_002435.3(MPI):c.390C>T (p.Pro130=)
|
rs140961968
|
0.00006
|
NM_002435.3(MPI):c.61A>G (p.Met21Val)
|
rs376746368
|
0.00006
|
NM_002435.3(MPI):c.708G>A (p.Glu236=)
|
rs530537706
|
0.00006
|
NM_002435.3(MPI):c.132G>A (p.Lys44=)
|
rs778577329
|
0.00005
|
NM_002435.3(MPI):c.*93C>T
|
rs1336372205
|
0.00004
|
NM_002435.3(MPI):c.1053+15A>G
|
rs564765063
|
0.00004
|
NM_002435.3(MPI):c.1053+3G>T
|
rs753145834
|
0.00004
|
NM_002435.3(MPI):c.1175G>A (p.Arg392His)
|
rs762164813
|
0.00004
|
NM_002435.3(MPI):c.1232C>T (p.Pro411Leu)
|
rs147817691
|
0.00004
|
NM_002435.3(MPI):c.*44T>G
|
rs774547352
|
0.00003
|
NM_002435.3(MPI):c.1193T>C (p.Ile398Thr)
|
rs369326210
|
0.00003
|
NM_002435.3(MPI):c.121G>A (p.Ala41Thr)
|
rs779821212
|
0.00003
|
NM_002435.3(MPI):c.144+12G>T
|
rs369867765
|
0.00003
|
NM_002435.3(MPI):c.162C>T (p.His54=)
|
rs763885017
|
0.00003
|
NM_002435.3(MPI):c.305C>T (p.Ser102Leu)
|
rs104894494
|
0.00003
|
NM_002435.3(MPI):c.69C>T (p.Ser23=)
|
rs140124850
|
0.00003
|
NM_002435.3(MPI):c.780T>C (p.Leu260=)
|
rs371012451
|
0.00003
|
NM_002435.3(MPI):c.884G>A (p.Arg295His)
|
rs28928906
|
0.00003
|
NM_002435.3(MPI):c.*109T>C
|
rs905180827
|
0.00002
|
NM_002435.3(MPI):c.1064C>T (p.Ser355Phe)
|
rs763169640
|
0.00002
|
NM_002435.3(MPI):c.1233G>A (p.Pro411=)
|
rs746867428
|
0.00002
|
NM_002435.3(MPI):c.1271A>G (p.Ter424=)
|
rs896962413
|
0.00002
|
NM_002435.3(MPI):c.17-7C>T
|
rs539654088
|
0.00002
|
NM_002435.3(MPI):c.264del (p.Asp88fs)
|
rs868127074
|
0.00002
|
NM_002435.3(MPI):c.345+20G>A
|
rs772479528
|
0.00002
|
NM_002435.3(MPI):c.345+26G>A
|
rs144839533
|
0.00002
|
NM_002435.3(MPI):c.487+2del
|
rs1057516550
|
0.00002
|
NM_002435.3(MPI):c.639C>T (p.Leu213=)
|
rs763155512
|
0.00002
|
NM_002435.3(MPI):c.739G>A (p.Gly247Ser)
|
rs557366025
|
0.00002
|
NM_002435.3(MPI):c.90G>A (p.Leu30=)
|
rs760006403
|
0.00002
|
NM_002435.3(MPI):c.1002C>T (p.Tyr334=)
|
rs1244689117
|
0.00001
|
NM_002435.3(MPI):c.1038C>T (p.Thr346=)
|
rs2064832183
|
0.00001
|
NM_002435.3(MPI):c.1122G>C (p.Gln374His)
|
rs753458883
|
0.00001
|
NM_002435.3(MPI):c.1156A>T (p.Thr386Ser)
|
rs769768397
|
0.00001
|
NM_002435.3(MPI):c.1174C>T (p.Arg392Cys)
|
rs751962765
|
0.00001
|
NM_002435.3(MPI):c.123A>G (p.Ala41=)
|
rs1280433010
|
0.00001
|
NM_002435.3(MPI):c.1242G>A (p.Leu414=)
|
rs780975089
|
0.00001
|
NM_002435.3(MPI):c.1253G>A (p.Arg418His)
|
rs863225087
|
0.00001
|
NM_002435.3(MPI):c.13C>T (p.Arg5Ter)
|
rs1452559752
|
0.00001
|
NM_002435.3(MPI):c.145-11T>C
|
rs768029221
|
0.00001
|
NM_002435.3(MPI):c.145-1G>C
|
rs1057516573
|
0.00001
|
NM_002435.3(MPI):c.16+16G>T
|
rs751527702
|
0.00001
|
NM_002435.3(MPI):c.16+8A>G
|
rs765308824
|
0.00001
|
NM_002435.3(MPI):c.16+9T>C
|
rs763004015
|
0.00001
|
NM_002435.3(MPI):c.166C>T (p.Arg56Ter)
|
rs757168691
|
0.00001
|
NM_002435.3(MPI):c.18A>G (p.Val6=)
|
rs754249618
|
0.00001
|
NM_002435.3(MPI):c.1A>G (p.Met1Val)
|
rs528828174
|
0.00001
|
NM_002435.3(MPI):c.216C>T (p.Ser72=)
|
rs772501173
|
0.00001
|
NM_002435.3(MPI):c.244T>C (p.Leu82=)
|
rs1360638113
|
0.00001
|
NM_002435.3(MPI):c.251C>G (p.Ser84Ter)
|
rs978284448
|
0.00001
|
NM_002435.3(MPI):c.264C>T (p.Asp88=)
|
rs529795568
|
0.00001
|
NM_002435.3(MPI):c.27T>G (p.Leu9=)
|
rs193018589
|
0.00001
|
NM_002435.3(MPI):c.285C>T (p.Pro95=)
|
rs1001297444
|
0.00001
|
NM_002435.3(MPI):c.472G>A (p.Val158Ile)
|
rs886051482
|
0.00001
|
NM_002435.3(MPI):c.488-1G>C
|
rs759579169
|
0.00001
|
NM_002435.3(MPI):c.603G>C (p.Leu201=)
|
rs369609955
|
0.00001
|
NM_002435.3(MPI):c.628G>A (p.Val210Met)
|
rs781158335
|
0.00001
|
NM_002435.3(MPI):c.651G>A (p.Val217=)
|
rs762051658
|
0.00001
|
NM_002435.3(MPI):c.652A>T (p.Lys218Ter)
|
rs1057516424
|
0.00001
|
NM_002435.3(MPI):c.718C>T (p.Gln240Ter)
|
rs776340315
|
0.00001
|
NM_002435.3(MPI):c.723G>A (p.Leu241=)
|
rs965973212
|
0.00001
|
NM_002435.3(MPI):c.732G>A (p.Gln244=)
|
rs755747644
|
0.00001
|
NM_002435.3(MPI):c.746T>C (p.Ile249Thr)
|
rs201676072
|
0.00001
|
NM_002435.3(MPI):c.747C>T (p.Ile249=)
|
rs778875616
|
0.00001
|
NM_002435.3(MPI):c.768C>T (p.Phe256=)
|
rs1402063128
|
0.00001
|
NM_002435.3(MPI):c.7G>A (p.Ala3Thr)
|
rs770421382
|
0.00001
|
NM_002435.3(MPI):c.855G>A (p.Glu285=)
|
rs769504650
|
0.00001
|
NM_002435.3(MPI):c.902A>G (p.Lys301Arg)
|
rs534508637
|
0.00001
|
NM_002435.3(MPI):c.963C>T (p.Asp321=)
|
rs1256066211
|
0.00001
|
NM_002435.3(MPI):c.96C>T (p.Ala32=)
|
rs919325069
|
0.00001
|
NM_002435.3(MPI):c.992A>C (p.Glu331Ala)
|
rs1223295146
|
0.00001
|
NC_000015.9:g.(?_75188483)_(75190081_?)del
|
|
|
NM_002435.3(MPI):c.*103T>C
|
rs2064845890
|
|
NM_002435.3(MPI):c.*129G>C
|
rs80226376
|
|
NM_002435.3(MPI):c.*176G>A
|
rs886051484
|
|
NM_002435.3(MPI):c.*203G>A
|
rs562995056
|
|
NM_002435.3(MPI):c.*205G>T
|
rs2064847544
|
|
NM_002435.3(MPI):c.-1_3del (p.Met1fs)
|
rs1555478015
|
|
NM_002435.3(MPI):c.1001_1002dup (p.Leu335fs)
|
|
|
NM_002435.3(MPI):c.1001_1004del (p.Tyr334fs)
|
rs2141208628
|
|
NM_002435.3(MPI):c.1006_1007del (p.Ser336fs)
|
|
|
NM_002435.3(MPI):c.1008A>C (p.Ser336=)
|
|
|
NM_002435.3(MPI):c.1008A>T (p.Ser336=)
|
rs2141208646
|
|
NM_002435.3(MPI):c.1017C>T (p.Asp339=)
|
|
|
NM_002435.3(MPI):c.1017_1024delinsACCCCTT (p.Asp339fs)
|
|
|
NM_002435.3(MPI):c.1020C>T (p.Pro340=)
|
rs2141208695
|
|
NM_002435.3(MPI):c.1022del (p.Pro341fs)
|
|
|
NM_002435.3(MPI):c.1022dup (p.Val342fs)
|
rs765310894
|
|
NM_002435.3(MPI):c.1023del (p.Val342fs)
|
rs1555479441
|
|
NM_002435.3(MPI):c.1032C>G (p.Asp344Glu)
|
rs2064831979
|
|
NM_002435.3(MPI):c.1034dup (p.Thr346fs)
|
rs2141208718
|
|
NM_002435.3(MPI):c.1053+14T>C
|
|
|
NM_002435.3(MPI):c.1053+16T>C
|
|
|
NM_002435.3(MPI):c.1053+20G>C
|
|
|
NM_002435.3(MPI):c.1053+2T>C
|
rs2141208760
|
|
NM_002435.3(MPI):c.1053+6_1053+9del
|
rs1279545559
|
|
NM_002435.3(MPI):c.1054-11T>C
|
|
|
NM_002435.3(MPI):c.1054-17_1054-15del
|
|
|
NM_002435.3(MPI):c.1054-34_1054-11del
|
rs1555479532
|
|
NM_002435.3(MPI):c.1054-6G>A
|
|
|
NM_002435.3(MPI):c.1054-7T>C
|
rs2141209464
|
|
NM_002435.3(MPI):c.1054-8C>G
|
rs2141209458
|
|
NM_002435.3(MPI):c.1054-9C>T
|
|
|
NM_002435.3(MPI):c.1054del
|
rs752976348
|
|
NM_002435.3(MPI):c.1058del (p.Pro353fs)
|
|
|
NM_002435.3(MPI):c.1061G>A (p.Gly354Asp)
|
|
|
NM_002435.3(MPI):c.1062C>T (p.Gly354=)
|
|
|
NM_002435.3(MPI):c.1064_1065del (p.Ser355fs)
|
rs2064839839
|
|
NM_002435.3(MPI):c.1069A>G (p.Thr357Ala)
|
rs2064840019
|
|
NM_002435.3(MPI):c.1074A>G (p.Glu358=)
|
rs2141209541
|
|
NM_002435.3(MPI):c.1083C>T (p.Val361=)
|
|
|
NM_002435.3(MPI):c.1086G>A (p.Leu362=)
|
rs905233208
|
|
NM_002435.3(MPI):c.1087del (p.Ala363fs)
|
rs2141209567
|
|
NM_002435.3(MPI):c.1095C>T (p.Asp365=)
|
rs2064840337
|
|
NM_002435.3(MPI):c.1096T>C (p.Ser366Pro)
|
rs1555479551
|
|
NM_002435.3(MPI):c.1098T>G (p.Ser366=)
|
|
|
NM_002435.3(MPI):c.1111C>T (p.Leu371=)
|
rs1403486851
|
|
NM_002435.3(MPI):c.1113G>A (p.Leu371=)
|
rs2141209616
|
|
NM_002435.3(MPI):c.1113G>T (p.Leu371=)
|
|
|
NM_002435.3(MPI):c.1120C>T (p.Gln374Ter)
|
|
|
NM_002435.3(MPI):c.1122G>A (p.Gln374=)
|
|
|
NM_002435.3(MPI):c.1124G>A (p.Gly375Glu)
|
rs2064840907
|
|
NM_002435.3(MPI):c.1127_1128del (p.Thr376fs)
|
|
|
NM_002435.3(MPI):c.1134del (p.Ile378fs)
|
|
|
NM_002435.3(MPI):c.1137C>T (p.Ala379=)
|
rs2141209695
|
|
NM_002435.3(MPI):c.1137_1140del (p.Ser380fs)
|
|
|
NM_002435.3(MPI):c.1140C>T (p.Ser380=)
|
rs2141209705
|
|
NM_002435.3(MPI):c.1143A>C (p.Thr381=)
|
rs1595824783
|
|
NM_002435.3(MPI):c.1152C>G (p.Thr384=)
|
|
|
NM_002435.3(MPI):c.1152C>T (p.Thr384=)
|
rs2064841631
|
|
NM_002435.3(MPI):c.1157C>T (p.Thr386Ile)
|
rs2141209748
|
|
NM_002435.3(MPI):c.1166del (p.Pro389fs)
|
|
|
NM_002435.3(MPI):c.1170G>A (p.Leu390=)
|
|
|
NM_002435.3(MPI):c.1170G>C (p.Leu390=)
|
|
|
NM_002435.3(MPI):c.1170G>T (p.Leu390=)
|
|
|
NM_002435.3(MPI):c.1173A>G (p.Gln391=)
|
|
|
NM_002435.3(MPI):c.1179T>C (p.Gly393=)
|
|
|
NM_002435.3(MPI):c.1188C>G (p.Leu396=)
|
|
|
NM_002435.3(MPI):c.1188C>T (p.Leu396=)
|
|
|
NM_002435.3(MPI):c.1197G>A (p.Gly399=)
|
rs2064842732
|
|
NM_002435.3(MPI):c.1205A>G (p.Glu402Gly)
|
rs863225086
|
|
NM_002435.3(MPI):c.1207A>T (p.Ser403Cys)
|
|
|
NM_002435.3(MPI):c.120del (p.Ile40fs)
|
rs1057516466
|
|
NM_002435.3(MPI):c.1212C>T (p.Val404=)
|
rs2064843052
|
|
NM_002435.3(MPI):c.1216C>T (p.Leu406=)
|
rs1268364682
|
|
NM_002435.3(MPI):c.1224T>A (p.Leu408=)
|
|
|
NM_002435.3(MPI):c.1227T>C (p.Thr409=)
|
|
|
NM_002435.3(MPI):c.122del (p.Ala41fs)
|
|
|
NM_002435.3(MPI):c.1233G>T (p.Pro411=)
|
rs746867428
|
|
NM_002435.3(MPI):c.1236G>A (p.Lys412=)
|
rs2141209962
|
|
NM_002435.3(MPI):c.124G>C (p.Glu42Gln)
|
|
|
NM_002435.3(MPI):c.1260C>A (p.Cys420Ter)
|
rs1555479632
|
|
NM_002435.3(MPI):c.1263T>C (p.Cys421=)
|
|
|
NM_002435.3(MPI):c.1264C>T (p.Leu422=)
|
|
|
NM_002435.3(MPI):c.1266G>C (p.Leu422=)
|
rs779158025
|
|
NM_002435.3(MPI):c.1267C>T (p.Leu423=)
|
rs2141210022
|
|
NM_002435.3(MPI):c.1269G>C (p.Leu423=)
|
rs371664469
|
|
NM_002435.3(MPI):c.126G>A (p.Glu42=)
|
|
|
NM_002435.3(MPI):c.129C>T (p.Asp43=)
|
rs2141196159
|
|
NM_002435.3(MPI):c.138T>C (p.Tyr46=)
|
rs2141196187
|
|
NM_002435.3(MPI):c.138del (p.Pro45_Tyr46insTer)
|
|
|
NM_002435.3(MPI):c.140C>G (p.Ala47Gly)
|
|
|
NM_002435.3(MPI):c.141A>G (p.Ala47=)
|
|
|
NM_002435.3(MPI):c.144+10G>A
|
rs2064712214
|
|
NM_002435.3(MPI):c.144+13C>T
|
|
|
NM_002435.3(MPI):c.144+15G>A
|
|
|
NM_002435.3(MPI):c.144+19T>G
|
|
|
NM_002435.3(MPI):c.144+1G>A
|
|
|
NM_002435.3(MPI):c.144+20T>C
|
|
|
NM_002435.3(MPI):c.144+2T>C
|
|
|
NM_002435.3(MPI):c.144+7C>T
|
|
|
NM_002435.3(MPI):c.145-10G>A
|
|
|
NM_002435.3(MPI):c.145-13C>T
|
|
|
NM_002435.3(MPI):c.145-1G>A
|
rs1057516573
|
|
NM_002435.3(MPI):c.145-5T>C
|
|
|
NM_002435.3(MPI):c.145-9T>C
|
rs2141197441
|
|
NM_002435.3(MPI):c.150G>A (p.Trp50Ter)
|
rs1406722622
|
|
NM_002435.3(MPI):c.156G>A (p.Gly52=)
|
rs2141197487
|
|
NM_002435.3(MPI):c.159T>C (p.Thr53=)
|
|
|
NM_002435.3(MPI):c.15_16+5del
|
rs2141194911
|
|
NM_002435.3(MPI):c.16+11G>A
|
|
|
NM_002435.3(MPI):c.16+13C>T
|
|
|
NM_002435.3(MPI):c.16+15G>A
|
|
|
NM_002435.3(MPI):c.16+15G>C
|
|
|
NM_002435.3(MPI):c.16+15G>T
|
|
|
NM_002435.3(MPI):c.16+17G>A
|
|
|
NM_002435.3(MPI):c.16+17G>C
|
|
|
NM_002435.3(MPI):c.16+18G>T
|
|
|
NM_002435.3(MPI):c.16+18dup
|
|
|
NM_002435.3(MPI):c.16+1G>A
|
|
|
NM_002435.3(MPI):c.16+1G>T
|
|
|
NM_002435.3(MPI):c.16+7C>T
|
|
|
NM_002435.3(MPI):c.16+8A>T
|
|
|
NM_002435.3(MPI):c.166dup (p.Arg56fs)
|
rs786204593
|
|
NM_002435.3(MPI):c.169G>A (p.Gly57Arg)
|
rs1225376562
|
|
NM_002435.3(MPI):c.17-12C>G
|
|
|
NM_002435.3(MPI):c.17-13T>C
|
|
|
NM_002435.3(MPI):c.17-2A>G
|
|
|
NM_002435.3(MPI):c.17-4C>G
|
|
|
NM_002435.3(MPI):c.170G>T (p.Gly57Val)
|
|
|
NM_002435.3(MPI):c.171G>A (p.Gly57=)
|
|
|
NM_002435.3(MPI):c.177C>A (p.Ala59=)
|
|
|
NM_002435.3(MPI):c.177C>T (p.Ala59=)
|
rs2064724687
|
|
NM_002435.3(MPI):c.180G>A (p.Lys60=)
|
|
|
NM_002435.3(MPI):c.183_184delinsAA (p.Leu62Ile)
|
|
|
NM_002435.3(MPI):c.194G>A (p.Arg65His)
|
|
|
NM_002435.3(MPI):c.199dup (p.Ser67fs)
|
|
|
NM_002435.3(MPI):c.204G>A (p.Gln68=)
|
|
|
NM_002435.3(MPI):c.206del (p.Lys69fs)
|
|
|
NM_002435.3(MPI):c.207G>A (p.Lys69=)
|
|
|
NM_002435.3(MPI):c.222G>A (p.Trp74Ter)
|
|
|
NM_002435.3(MPI):c.225T>C (p.Ile75=)
|
|
|
NM_002435.3(MPI):c.231G>A (p.Glu77=)
|
|
|
NM_002435.3(MPI):c.238G>A (p.Asp80Asn)
|
rs1444877183
|
|
NM_002435.3(MPI):c.246G>A (p.Leu82=)
|
|
|
NM_002435.3(MPI):c.249C>A (p.Gly83=)
|
rs146863816
|
|
NM_002435.3(MPI):c.249C>T (p.Gly83=)
|
|
|
NM_002435.3(MPI):c.251C>A (p.Ser84Ter)
|
|
|
NM_002435.3(MPI):c.258C>T (p.Val86=)
|
rs2141197661
|
|
NM_002435.3(MPI):c.282G>C (p.Leu94=)
|
rs2141197716
|
|
NM_002435.3(MPI):c.288C>T (p.Phe96=)
|
rs2064726439
|
|
NM_002435.3(MPI):c.303C>G (p.Leu101=)
|
|
|
NM_002435.3(MPI):c.306A>G (p.Ser102=)
|
rs2141197776
|
|
NM_002435.3(MPI):c.315A>C (p.Thr105=)
|
rs755946117
|
|
NM_002435.3(MPI):c.315A>T (p.Thr105=)
|
|
|
NM_002435.3(MPI):c.319C>T (p.Leu107=)
|
rs2064727157
|
|
NM_002435.3(MPI):c.319del (p.Leu107fs)
|
|
|
NM_002435.3(MPI):c.324C>T (p.Ser108=)
|
rs2141197827
|
|
NM_002435.3(MPI):c.335_338del (p.His112fs)
|
rs2141197839
|
|
NM_002435.3(MPI):c.339_342dup (p.Lys115Ter)
|
rs1661886822
|
|
NM_002435.3(MPI):c.33T>G (p.Cys11Trp)
|
rs2064708840
|
|
NM_002435.3(MPI):c.342C>T (p.Asn114=)
|
|
|
NM_002435.3(MPI):c.345+15_345+16delinsAT
|
rs1064794476
|
|
NM_002435.3(MPI):c.345+17G>A
|
|
|
NM_002435.3(MPI):c.345+19T>C
|
|
|
NM_002435.3(MPI):c.345+1G>A
|
rs1555478333
|
|
NM_002435.3(MPI):c.346-10C>G
|
|
|
NM_002435.3(MPI):c.346-12G>A
|
|
|
NM_002435.3(MPI):c.346-15C>T
|
|
|
NM_002435.3(MPI):c.346-16C>T
|
|
|
NM_002435.3(MPI):c.346-18C>A
|
|
|
NM_002435.3(MPI):c.346-5C>T
|
|
|
NM_002435.3(MPI):c.346-8C>T
|
rs906781914
|
|
NM_002435.3(MPI):c.351G>A (p.Leu117=)
|
|
|
NM_002435.3(MPI):c.360G>A (p.Lys120=)
|
|
|
NM_002435.3(MPI):c.362T>C (p.Leu121Pro)
|
|
|
NM_002435.3(MPI):c.363G>A (p.Leu121=)
|
rs879379479
|
|
NM_002435.3(MPI):c.366C>T (p.His122=)
|
|
|
NM_002435.3(MPI):c.369C>T (p.Leu123=)
|
|
|
NM_002435.3(MPI):c.36G>C (p.Ala12=)
|
|
|
NM_002435.3(MPI):c.370dup (p.Gln124fs)
|
|
|
NM_002435.3(MPI):c.381G>A (p.Gln127=)
|
|
|
NM_002435.3(MPI):c.391G>A (p.Asp131Asn)
|
|
|
NM_002435.3(MPI):c.396C>T (p.Ala132=)
|
rs2141199526
|
|
NM_002435.3(MPI):c.402C>T (p.His134=)
|
rs2141199543
|
|
NM_002435.3(MPI):c.413T>C (p.Met138Thr)
|
rs104894495
|
|
NM_002435.3(MPI):c.417C>T (p.Ala139=)
|
|
|
NM_002435.3(MPI):c.419T>C (p.Ile140Thr)
|
|
|
NM_002435.3(MPI):c.426C>G (p.Leu142=)
|
|
|
NM_002435.3(MPI):c.432C>G (p.Pro144=)
|
rs145767808
|
|
NM_002435.3(MPI):c.432C>T (p.Pro144=)
|
rs145767808
|
|
NM_002435.3(MPI):c.432del (p.Phe145fs)
|
|
|
NM_002435.3(MPI):c.43C>T (p.Gln15Ter)
|
|
|
NM_002435.3(MPI):c.43_44insCTGGGGGA (p.Gln15fs)
|
|
|
NM_002435.3(MPI):c.444G>A (p.Leu148=)
|
|
|
NM_002435.3(MPI):c.445T>C (p.Cys149Arg)
|
rs2064746068
|
|
NM_002435.3(MPI):c.44del (p.Gln15fs)
|
|
|
NM_002435.3(MPI):c.455G>A (p.Arg152Gln)
|
|
|
NM_002435.3(MPI):c.455G>C (p.Arg152Pro)
|
rs766458792
|
|
NM_002435.3(MPI):c.459A>G (p.Pro153=)
|
|
|
NM_002435.3(MPI):c.45G>C (p.Gln15His)
|
rs371649838
|
|
NM_002435.3(MPI):c.465G>A (p.Glu155=)
|
|
|
NM_002435.3(MPI):c.471T>A (p.Ile157=)
|
|
|
NM_002435.3(MPI):c.471T>C (p.Ile157=)
|
|
|
NM_002435.3(MPI):c.477C>T (p.Thr159=)
|
|
|
NM_002435.3(MPI):c.487+10G>A
|
rs2141199719
|
|
NM_002435.3(MPI):c.487+12A>G
|
|
|
NM_002435.3(MPI):c.487+14A>C
|
|
|
NM_002435.3(MPI):c.487+17G>A
|
|
|
NM_002435.3(MPI):c.487+1G>A
|
|
|
NM_002435.3(MPI):c.487+7T>C
|
|
|
NM_002435.3(MPI):c.488-12G>A
|
rs969925962
|
|
NM_002435.3(MPI):c.488-12G>C
|
|
|
NM_002435.3(MPI):c.488-17G>A
|
|
|
NM_002435.3(MPI):c.488-1G>A
|
rs759579169
|
|
NM_002435.3(MPI):c.488-5T>C
|
rs2141200247
|
|
NM_002435.3(MPI):c.490del (p.Val164fs)
|
|
|
NM_002435.3(MPI):c.492G>A (p.Val164=)
|
rs2141200277
|
|
NM_002435.3(MPI):c.497_498del (p.Glu166fs)
|
rs2141200280
|
|
NM_002435.3(MPI):c.507C>T (p.Phe169=)
|
|
|
NM_002435.3(MPI):c.527C>T (p.Ala176Val)
|
rs1256364766
|
|
NM_002435.3(MPI):c.530C>T (p.Thr177Ile)
|
|
|
NM_002435.3(MPI):c.530dup (p.His178fs)
|
|
|
NM_002435.3(MPI):c.531A>G (p.Thr177=)
|
|
|
NM_002435.3(MPI):c.533A>C (p.His178Pro)
|
rs2141200350
|
|
NM_002435.3(MPI):c.534C>T (p.His178=)
|
rs775688839
|
|
NM_002435.3(MPI):c.535del (p.His178_Leu179insTer)
|
rs1555478582
|
|
NM_002435.3(MPI):c.546C>T (p.Thr182=)
|
rs2064752091
|
|
NM_002435.3(MPI):c.567T>C (p.Ala189=)
|
|
|
NM_002435.3(MPI):c.56_65del (p.Gly19fs)
|
|
|
NM_002435.3(MPI):c.576C>G (p.Ser192=)
|
|
|
NM_002435.3(MPI):c.576C>T (p.Ser192=)
|
rs794727716
|
|
NM_002435.3(MPI):c.587G>A (p.Ser196Asn)
|
|
|
NM_002435.3(MPI):c.591T>C (p.Cys197=)
|
rs2141200469
|
|
NM_002435.3(MPI):c.593dup (p.Ser199fs)
|
|
|
NM_002435.3(MPI):c.594C>T (p.Phe198=)
|
rs1399029075
|
|
NM_002435.3(MPI):c.602T>C (p.Leu201Pro)
|
rs2064752971
|
|
NM_002435.3(MPI):c.60G>A (p.Lys20=)
|
rs779832985
|
|
NM_002435.3(MPI):c.612_615del (p.Ser204fs)
|
|
|
NM_002435.3(MPI):c.613G>T (p.Glu205Ter)
|
|
|
NM_002435.3(MPI):c.618G>A (p.Lys206=)
|
rs777538825
|
|
NM_002435.3(MPI):c.627G>A (p.Val209=)
|
|
|
NM_002435.3(MPI):c.627G>T (p.Val209=)
|
|
|
NM_002435.3(MPI):c.629del (p.Val210fs)
|
rs1555478606
|
|
NM_002435.3(MPI):c.630G>A (p.Val210=)
|
|
|
NM_002435.3(MPI):c.631del (p.Glu211fs)
|
rs1374119101
|
|
NM_002435.3(MPI):c.633A>G (p.Glu211=)
|
rs2141200588
|
|
NM_002435.3(MPI):c.643C>T (p.Leu215=)
|
rs1595818707
|
|
NM_002435.3(MPI):c.647_650del (p.Leu215_Leu216insTer)
|
rs2141200617
|
|
NM_002435.3(MPI):c.657G>A (p.Arg219=)
|
rs1318782866
|
|
NM_002435.3(MPI):c.657G>C (p.Arg219=)
|
rs1318782866
|
|
NM_002435.3(MPI):c.657del (p.Ile220fs)
|
|
|
NM_002435.3(MPI):c.65del (p.Gly22fs)
|
|
|
NM_002435.3(MPI):c.661T>A (p.Ser221Thr)
|
|
|
NM_002435.3(MPI):c.670+10G>A
|
rs2141200747
|
|
NM_002435.3(MPI):c.670+13A>G
|
|
|
NM_002435.3(MPI):c.670+14T>C
|
|
|
NM_002435.3(MPI):c.670+15A>C
|
|
|
NM_002435.3(MPI):c.670+3G>A
|
|
|
NM_002435.3(MPI):c.670+7A>G
|
|
|
NM_002435.3(MPI):c.670+8_670+9del
|
|
|
NM_002435.3(MPI):c.670+8_670+9inv
|
|
|
NM_002435.3(MPI):c.670+9A>C
|
rs7495739
|
|
NM_002435.3(MPI):c.670+9A>G
|
rs7495739
|
|
NM_002435.3(MPI):c.670+9A>T
|
rs7495739
|
|
NM_002435.3(MPI):c.670+9del
|
|
|
NM_002435.3(MPI):c.670+9dup
|
rs1595818806
|
|
NM_002435.3(MPI):c.671-13_671-12del
|
|
|
NM_002435.3(MPI):c.671-15C>G
|
|
|
NM_002435.3(MPI):c.671-15C>T
|
|
|
NM_002435.3(MPI):c.671-7C>T
|
rs2141206472
|
|
NM_002435.3(MPI):c.671-8A>T
|
|
|
NM_002435.3(MPI):c.671-9G>C
|
rs561678676
|
|
NM_002435.3(MPI):c.672G>C (p.Ala224=)
|
rs768186349
|
|
NM_002435.3(MPI):c.675T>C (p.Ala225=)
|
|
|
NM_002435.3(MPI):c.678C>A (p.Ala226=)
|
rs199972529
|
|
NM_002435.3(MPI):c.678C>T (p.Ala226=)
|
|
|
NM_002435.3(MPI):c.679G>T (p.Gly227Ter)
|
|
|
NM_002435.3(MPI):c.681A>G (p.Gly227=)
|
rs1595822320
|
|
NM_002435.3(MPI):c.693G>A (p.Glu231=)
|
rs2141206565
|
|
NM_002435.3(MPI):c.695A>G (p.Asp232Gly)
|
rs765912695
|
|
NM_002435.3(MPI):c.699C>T (p.Ile233=)
|
|
|
NM_002435.3(MPI):c.6C>A (p.Ala2=)
|
rs149477499
|
|
NM_002435.3(MPI):c.6C>G (p.Ala2=)
|
|
|
NM_002435.3(MPI):c.6C>T (p.Ala2=)
|
rs149477499
|
|
NM_002435.3(MPI):c.706dup (p.Glu236fs)
|
|
|
NM_002435.3(MPI):c.713del (p.Leu238fs)
|
rs745432667
|
|
NM_002435.3(MPI):c.727C>T (p.Gln243Ter)
|
rs749911553
|
|
NM_002435.3(MPI):c.740del (p.Gly247fs)
|
rs1057517115
|
|
NM_002435.3(MPI):c.744T>C (p.Asp248=)
|
rs2141206666
|
|
NM_002435.3(MPI):c.745dup (p.Ile249fs)
|
rs2141206676
|
|
NM_002435.3(MPI):c.747C>A (p.Ile249=)
|
rs778875616
|
|
NM_002435.3(MPI):c.751del (p.Cys251fs)
|
|
|
NM_002435.3(MPI):c.753del (p.Phe252fs)
|
rs2141206722
|
|
NM_002435.3(MPI):c.764A>G (p.Tyr255Cys)
|
|
|
NM_002435.3(MPI):c.764_776del (p.Tyr255fs)
|
|
|
NM_002435.3(MPI):c.765C>T (p.Tyr255=)
|
|
|
NM_002435.3(MPI):c.769C>T (p.Leu257=)
|
rs1595822532
|
|
NM_002435.3(MPI):c.771G>A (p.Leu257=)
|
rs2141206771
|
|
NM_002435.3(MPI):c.774C>T (p.Asn258=)
|
|
|
NM_002435.3(MPI):c.775C>T (p.Leu259=)
|
rs2141206776
|
|
NM_002435.3(MPI):c.777G>A (p.Leu259=)
|
|
|
NM_002435.3(MPI):c.781A>G (p.Thr261Ala)
|
rs2064816825
|
|
NM_002435.3(MPI):c.783C>A (p.Thr261=)
|
rs2141206797
|
|
NM_002435.3(MPI):c.783C>T (p.Thr261=)
|
rs2141206797
|
|
NM_002435.3(MPI):c.786G>A (p.Leu262=)
|
rs1301498236
|
|
NM_002435.3(MPI):c.78A>G (p.Glu26=)
|
rs1596440826
|
|
NM_002435.3(MPI):c.792T>C (p.Pro264=)
|
|
|
NM_002435.3(MPI):c.792dup (p.Gly265fs)
|
|
|
NM_002435.3(MPI):c.793G>A (p.Gly265Arg)
|
rs2064817105
|
|
NM_002435.3(MPI):c.796G>A (p.Glu266Lys)
|
rs1595822583
|
|
NM_002435.3(MPI):c.802_803del (p.Met268fs)
|
rs1555479227
|
|
NM_002435.3(MPI):c.810G>A (p.Leu270=)
|
|
|
NM_002435.3(MPI):c.810G>C (p.Leu270=)
|
rs2141206859
|
|
NM_002435.3(MPI):c.816C>G (p.Ala272=)
|
rs2064817492
|
|
NM_002435.3(MPI):c.818delinsTC (p.Asn273fs)
|
|
|
NM_002435.3(MPI):c.820dup (p.Val274fs)
|
rs1567268668
|
|
NM_002435.3(MPI):c.830_831del (p.Ala277fs)
|
|
|
NM_002435.3(MPI):c.834C>T (p.Tyr278=)
|
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NM_002435.3(MPI):c.841G>T (p.Gly281Ter)
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NM_002435.3(MPI):c.843_844+1del
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NM_002435.3(MPI):c.844+10A>G
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NM_002435.3(MPI):c.844+14C>G
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NM_002435.3(MPI):c.844+1G>A
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rs1394866894
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NM_002435.3(MPI):c.844+2T>C
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NM_002435.3(MPI):c.844+2T>G
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rs2141206921
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NM_002435.3(MPI):c.844+9C>G
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rs2141206935
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NM_002435.3(MPI):c.845-10G>C
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rs748693066
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NM_002435.3(MPI):c.845-14G>A
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NM_002435.3(MPI):c.845-14_845-12del
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NM_002435.3(MPI):c.845-15C>T
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NM_002435.3(MPI):c.845-17G>T
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NM_002435.3(MPI):c.845-18dup
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NM_002435.3(MPI):c.845-20C>T
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NM_002435.3(MPI):c.845-2A>G
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rs2064828055
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NM_002435.3(MPI):c.845-2del
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rs1555479341
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NM_002435.3(MPI):c.845-4C>A
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NM_002435.3(MPI):c.845-9T>C
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NM_002435.3(MPI):c.84_88del (p.Arg29fs)
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rs753839890
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NM_002435.3(MPI):c.864G>A (p.Ala288=)
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rs1017060960
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NM_002435.3(MPI):c.875_879dup (p.Val294fs)
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NM_002435.3(MPI):c.880dup (p.Val294fs)
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rs1555479351
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NM_002435.3(MPI):c.882T>G (p.Val294=)
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rs2141208380
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NM_002435.3(MPI):c.894G>A (p.Leu298=)
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NM_002435.3(MPI):c.89_113del (p.Leu30fs)
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rs1555478118
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NM_002435.3(MPI):c.914T>A (p.Val305Glu)
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NM_002435.3(MPI):c.91T>C (p.Leu31=)
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rs765537697
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NM_002435.3(MPI):c.920C>G (p.Thr307Ser)
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NM_002435.3(MPI):c.936C>T (p.Leu312=)
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rs1362422803
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NM_002435.3(MPI):c.939C>T (p.Ser313=)
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NM_002435.3(MPI):c.945C>T (p.Thr315=)
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NM_002435.3(MPI):c.948T>A (p.Pro316=)
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rs778221310
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NM_002435.3(MPI):c.952_957del (p.Ser318_Ser319del)
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rs1555479384
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NM_002435.3(MPI):c.95C>T (p.Ala32Val)
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rs1596440893
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NM_002435.3(MPI):c.969C>G (p.Leu323=)
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NM_002435.3(MPI):c.969_970del (p.Phe324fs)
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NM_002435.3(MPI):c.973del (p.Leu325fs)
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NM_002435.3(MPI):c.984G>C (p.Arg328=)
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NM_002435.3(MPI):c.984G>T (p.Arg328=)
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NM_002435.3(MPI):c.987T>C (p.Ser329=)
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NM_002435.3(MPI):c.989_1005dup (p.Ser336fs)
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NM_002435.3(MPI):c.991del (p.Glu331fs)
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rs1555479423
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NM_002435.3(MPI):c.993A>G (p.Glu331=)
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rs2141208617
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NM_002435.3(MPI):c.995A>T (p.Asp332Val)
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NM_002435.3(MPI):c.996C>T (p.Asp332=)
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rs1042715923
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