NM_003977.4(AIP):c.920= (p.Arg307=)
|
rs4930199
|
0.99984
|
NM_003977.4(AIP):c.469-236G>T
|
rs611697
|
0.84929
|
NM_003977.4(AIP):c.682C>A (p.Gln228Lys)
|
rs641081
|
0.84113
|
NM_003977.4(AIP):c.516C>T (p.Asp172=)
|
rs2276020
|
0.03152
|
NM_003977.4(AIP):c.468+244G>A
|
rs115215716
|
0.01912
|
NM_003977.4(AIP):c.*64G>A
|
rs115346238
|
0.00596
|
NM_003977.4(AIP):c.*60G>C
|
rs146014363
|
0.00566
|
NM_003977.4(AIP):c.891C>A (p.Ala297=)
|
rs35665586
|
0.00545
|
NM_003977.4(AIP):c.468+136A>G
|
rs79270719
|
0.00513
|
NM_003977.4(AIP):c.47G>A (p.Arg16His)
|
rs145047094
|
0.00197
|
NM_003977.4(AIP):c.68G>A (p.Gly23Glu)
|
rs116940576
|
0.00115
|
NM_003977.4(AIP):c.911G>A (p.Arg304Gln)
|
rs104894190
|
0.00115
|
NM_003977.4(AIP):c.-84C>G
|
rs540839310
|
0.00086
|
NM_003977.4(AIP):c.301G>A (p.Val101Met)
|
rs147931650
|
0.00085
|
NM_003977.4(AIP):c.896C>T (p.Ala299Val)
|
rs148986773
|
0.00065
|
NM_003977.4(AIP):c.-23A>G
|
rs200665479
|
0.00064
|
NM_003977.4(AIP):c.807C>T (p.Phe269=)
|
rs139407567
|
0.00055
|
NM_003977.4(AIP):c.382C>T (p.Arg128Cys)
|
rs140530307
|
0.00054
|
NM_003977.4(AIP):c.693G>A (p.Thr231=)
|
rs141715817
|
0.00046
|
NM_003977.4(AIP):c.36G>A (p.Gly12=)
|
rs79662690
|
0.00038
|
NM_003977.4(AIP):c.26G>A (p.Arg9Gln)
|
rs139459091
|
0.00037
|
NM_003977.4(AIP):c.517G>A (p.Glu173Lys)
|
rs138902236
|
0.00034
|
NM_003977.4(AIP):c.753G>A (p.Leu251=)
|
rs147351993
|
0.00016
|
NM_003977.4(AIP):c.920G>A (p.Arg307Gln)
|
rs4930199
|
0.00016
|
NM_003977.4(AIP):c.906G>A (p.Val302=)
|
rs142912418
|
0.00013
|
NM_003977.4(AIP):c.733G>A (p.Glu245Lys)
|
rs150645662
|
0.00012
|
NM_003977.4(AIP):c.280-19C>T
|
rs780523080
|
0.00011
|
NM_003977.4(AIP):c.974G>A (p.Arg325Gln)
|
rs754619109
|
0.00011
|
NM_003977.4(AIP):c.973C>T (p.Arg325Trp)
|
rs765927395
|
0.00010
|
NM_003977.4(AIP):c.827C>T (p.Ala276Val)
|
rs61741147
|
0.00009
|
NM_003977.4(AIP):c.468+9C>T
|
rs373159347
|
0.00008
|
NM_003977.4(AIP):c.561C>T (p.Asn187=)
|
rs142037029
|
0.00008
|
NM_003977.4(AIP):c.575A>G (p.Glu192Gly)
|
rs542237608
|
0.00008
|
NM_003977.4(AIP):c.724C>G (p.Leu242Val)
|
rs772782309
|
0.00008
|
NM_003977.4(AIP):c.572G>A (p.Arg191His)
|
rs141826817
|
0.00007
|
NM_003977.4(AIP):c.609C>T (p.Tyr203=)
|
rs146317385
|
0.00007
|
NM_003977.4(AIP):c.403C>T (p.His135Tyr)
|
rs150487522
|
0.00006
|
NM_003977.4(AIP):c.468+16G>A
|
rs267607273
|
0.00006
|
NM_003977.4(AIP):c.967C>T (p.Arg323Trp)
|
rs188965257
|
0.00006
|
NM_003977.4(AIP):c.486G>A (p.Thr162=)
|
rs555078670
|
0.00005
|
NM_003977.4(AIP):c.696G>A (p.Pro232=)
|
rs780232812
|
0.00005
|
NM_003977.4(AIP):c.940C>T (p.Arg314Trp)
|
rs375740557
|
0.00005
|
NM_003977.4(AIP):c.355C>T (p.Arg119Trp)
|
rs368933035
|
0.00004
|
NM_003977.4(AIP):c.468+13C>T
|
rs375823655
|
0.00004
|
NM_003977.4(AIP):c.468+15C>T
|
rs267607274
|
0.00004
|
NM_003977.4(AIP):c.581A>G (p.His194Arg)
|
rs747157774
|
0.00004
|
NM_003977.4(AIP):c.584T>C (p.Val195Ala)
|
rs267606561
|
0.00004
|
NM_003977.4(AIP):c.615C>G (p.Ala205=)
|
rs763588360
|
0.00004
|
NM_003977.4(AIP):c.692C>T (p.Thr231Met)
|
rs532170807
|
0.00004
|
NM_003977.4(AIP):c.70G>C (p.Glu24Gln)
|
rs267606568
|
0.00004
|
NM_003977.4(AIP):c.711C>T (p.Tyr237=)
|
rs530134308
|
0.00004
|
NM_003977.4(AIP):c.786C>T (p.Asp262=)
|
rs777095131
|
0.00004
|
NM_003977.4(AIP):c.787+9C>T
|
rs749392143
|
0.00004
|
NM_003977.4(AIP):c.828G>A (p.Ala276=)
|
rs1203800623
|
0.00004
|
NM_003977.4(AIP):c.84T>C (p.Phe28=)
|
rs371423932
|
0.00004
|
NM_003977.4(AIP):c.-5G>C
|
rs267606562
|
0.00003
|
NM_003977.4(AIP):c.280-15C>A
|
rs769231601
|
0.00003
|
NM_003977.4(AIP):c.317G>A (p.Arg106His)
|
rs373950586
|
0.00003
|
NM_003977.4(AIP):c.406G>T (p.Ala136Ser)
|
rs775549178
|
0.00003
|
NM_003977.4(AIP):c.545T>C (p.Ile182Thr)
|
rs1437201944
|
0.00003
|
NM_003977.4(AIP):c.562C>T (p.Arg188Trp)
|
rs577617733
|
0.00003
|
NM_003977.4(AIP):c.563G>A (p.Arg188Gln)
|
rs866556486
|
0.00003
|
NM_003977.4(AIP):c.573C>T (p.Arg191=)
|
rs781545373
|
0.00003
|
NM_003977.4(AIP):c.591G>A (p.Glu197=)
|
rs202006716
|
0.00003
|
NM_003977.4(AIP):c.744C>T (p.Tyr248=)
|
rs767453811
|
0.00003
|
NM_003977.4(AIP):c.788-12C>A
|
rs376713535
|
0.00003
|
NM_003977.4(AIP):c.831C>T (p.Ala277=)
|
rs531331351
|
0.00003
|
NM_003977.4(AIP):c.834G>T (p.Val278=)
|
rs745914221
|
0.00003
|
NM_003977.4(AIP):c.935G>A (p.Arg312Gln)
|
rs775563618
|
0.00003
|
NM_003977.4(AIP):c.941G>A (p.Arg314Gln)
|
rs540000299
|
0.00003
|
NM_003977.4(AIP):c.965C>T (p.Ala322Val)
|
rs267606586
|
0.00003
|
NM_003977.4(AIP):c.-3A>G
|
rs989975901
|
0.00002
|
NM_003977.4(AIP):c.23T>G (p.Leu8Arg)
|
rs555159979
|
0.00002
|
NM_003977.4(AIP):c.285G>A (p.Val95=)
|
rs774293360
|
0.00002
|
NM_003977.4(AIP):c.366C>T (p.Cys122=)
|
rs748883061
|
0.00002
|
NM_003977.4(AIP):c.367G>A (p.Gly123Ser)
|
rs1409029284
|
0.00002
|
NM_003977.4(AIP):c.383G>A (p.Arg128His)
|
rs267606550
|
0.00002
|
NM_003977.4(AIP):c.40C>T (p.Gln14Ter)
|
rs104894194
|
0.00002
|
NM_003977.4(AIP):c.415G>T (p.Asp139Tyr)
|
rs138312605
|
0.00002
|
NM_003977.4(AIP):c.468+14G>A
|
rs369766409
|
0.00002
|
NM_003977.4(AIP):c.619G>A (p.Ala207Thr)
|
rs1323279729
|
0.00002
|
NM_003977.4(AIP):c.633C>A (p.Asn211Lys)
|
rs969728952
|
0.00002
|
NM_003977.4(AIP):c.727G>T (p.Val243Leu)
|
rs1385147597
|
0.00002
|
NM_003977.4(AIP):c.784G>A (p.Asp262Asn)
|
rs758918509
|
0.00002
|
NM_003977.4(AIP):c.822C>A (p.Ala274=)
|
rs145142121
|
0.00002
|
NM_003977.4(AIP):c.825C>T (p.His275=)
|
rs556924640
|
0.00002
|
NM_003977.4(AIP):c.908G>A (p.Ser303Asn)
|
rs1006697477
|
0.00002
|
NM_003977.4(AIP):c.919C>T (p.Arg307Trp)
|
rs758248161
|
0.00002
|
NM_003977.4(AIP):c.12C>G (p.Ile4Met)
|
rs756870384
|
0.00001
|
NM_003977.4(AIP):c.278A>G (p.Lys93Arg)
|
rs942678425
|
0.00001
|
NM_003977.4(AIP):c.280-18G>A
|
rs1456210308
|
0.00001
|
NM_003977.4(AIP):c.280-4G>A
|
rs749009337
|
0.00001
|
NM_003977.4(AIP):c.280-5C>T
|
rs907846305
|
0.00001
|
NM_003977.4(AIP):c.281A>G (p.His94Arg)
|
rs1458882359
|
0.00001
|
NM_003977.4(AIP):c.291G>A (p.Leu97=)
|
rs146865791
|
0.00001
|
NM_003977.4(AIP):c.296C>T (p.Pro99Leu)
|
rs1388668435
|
0.00001
|
NM_003977.4(AIP):c.297G>A (p.Pro99=)
|
rs767511957
|
0.00001
|
NM_003977.4(AIP):c.316C>T (p.Arg106Cys)
|
rs369414668
|
0.00001
|
NM_003977.4(AIP):c.319A>G (p.Asn107Asp)
|
rs758681469
|
0.00001
|
NM_003977.4(AIP):c.325G>A (p.Ala109Thr)
|
rs1865848427
|
0.00001
|
NM_003977.4(AIP):c.326C>T (p.Ala109Val)
|
rs548910485
|
0.00001
|
NM_003977.4(AIP):c.327G>A (p.Ala109=)
|
rs751946476
|
0.00001
|
NM_003977.4(AIP):c.334A>G (p.Lys112Glu)
|
rs1489145468
|
0.00001
|
NM_003977.4(AIP):c.339C>G (p.Asp113Glu)
|
rs1175753689
|
0.00001
|
NM_003977.4(AIP):c.345G>C (p.Leu115=)
|
rs996404334
|
0.00001
|
NM_003977.4(AIP):c.356G>A (p.Arg119Gln)
|
rs746414951
|
0.00001
|
NM_003977.4(AIP):c.35G>A (p.Gly12Glu)
|
rs1357679684
|
0.00001
|
NM_003977.4(AIP):c.381G>A (p.Met127Ile)
|
rs768435758
|
0.00001
|
NM_003977.4(AIP):c.393C>T (p.Ser131=)
|
rs199558504
|
0.00001
|
NM_003977.4(AIP):c.394T>C (p.Ser132Pro)
|
rs1865851081
|
0.00001
|
NM_003977.4(AIP):c.404A>G (p.His135Arg)
|
rs769856618
|
0.00001
|
NM_003977.4(AIP):c.411C>A (p.Asp137Glu)
|
rs1865851687
|
0.00001
|
NM_003977.4(AIP):c.417C>T (p.Asp139=)
|
rs149570102
|
0.00001
|
NM_003977.4(AIP):c.419C>T (p.Ala140Val)
|
rs762219351
|
0.00001
|
NM_003977.4(AIP):c.41A>C (p.Gln14Pro)
|
rs1317189253
|
0.00001
|
NM_003977.4(AIP):c.428A>G (p.Gln143Arg)
|
rs954223621
|
0.00001
|
NM_003977.4(AIP):c.460A>G (p.Met154Val)
|
rs779653382
|
0.00001
|
NM_003977.4(AIP):c.468+20G>A
|
rs200995630
|
0.00001
|
NM_003977.4(AIP):c.468+3G>A
|
rs868823652
|
0.00001
|
NM_003977.4(AIP):c.468+8G>A
|
rs368923226
|
0.00001
|
NM_003977.4(AIP):c.468G>A (p.Lys156=)
|
rs1162771114
|
0.00001
|
NM_003977.4(AIP):c.469-17T>C
|
rs886037872
|
0.00001
|
NM_003977.4(AIP):c.46C>T (p.Arg16Cys)
|
rs549056286
|
0.00001
|
NM_003977.4(AIP):c.476G>A (p.Ser159Asn)
|
rs536239840
|
0.00001
|
NM_003977.4(AIP):c.477C>T (p.Ser159=)
|
rs1360672946
|
0.00001
|
NM_003977.4(AIP):c.532G>A (p.Ala178Thr)
|
rs762351007
|
0.00001
|
NM_003977.4(AIP):c.547C>T (p.His183Tyr)
|
rs757563781
|
0.00001
|
NM_003977.4(AIP):c.571C>T (p.Arg191Cys)
|
rs189861025
|
0.00001
|
NM_003977.4(AIP):c.574G>A (p.Glu192Lys)
|
rs575347930
|
0.00001
|
NM_003977.4(AIP):c.588G>A (p.Lys196=)
|
rs1332301201
|
0.00001
|
NM_003977.4(AIP):c.634C>T (p.Leu212=)
|
rs773865566
|
0.00001
|
NM_003977.4(AIP):c.63C>T (p.Gly21=)
|
rs199913396
|
0.00001
|
NM_003977.4(AIP):c.645+12A>G
|
rs373778965
|
0.00001
|
NM_003977.4(AIP):c.688A>G (p.Ile230Val)
|
rs1458744454
|
0.00001
|
NM_003977.4(AIP):c.695C>T (p.Pro232Leu)
|
rs150594019
|
0.00001
|
NM_003977.4(AIP):c.6G>A (p.Ala2=)
|
rs1865725846
|
0.00001
|
NM_003977.4(AIP):c.705C>G (p.Leu235=)
|
rs1464580715
|
0.00001
|
NM_003977.4(AIP):c.716A>G (p.Gln239Arg)
|
rs748710275
|
0.00001
|
NM_003977.4(AIP):c.720C>T (p.Cys240=)
|
rs267606572
|
0.00001
|
NM_003977.4(AIP):c.721A>G (p.Lys241Glu)
|
rs267606573
|
0.00001
|
NM_003977.4(AIP):c.72G>C (p.Glu24Asp)
|
rs201958318
|
0.00001
|
NM_003977.4(AIP):c.736G>A (p.Glu246Lys)
|
rs775566997
|
0.00001
|
NM_003977.4(AIP):c.73C>T (p.Leu25Phe)
|
rs777083581
|
0.00001
|
NM_003977.4(AIP):c.745G>A (p.Glu249Lys)
|
rs1313811815
|
0.00001
|
NM_003977.4(AIP):c.756C>T (p.Asp252=)
|
rs766594200
|
0.00001
|
NM_003977.4(AIP):c.758A>G (p.His253Arg)
|
rs1316077675
|
0.00001
|
NM_003977.4(AIP):c.768C>T (p.Ser256=)
|
rs755320118
|
0.00001
|
NM_003977.4(AIP):c.782A>G (p.Tyr261Cys)
|
rs780149133
|
0.00001
|
NM_003977.4(AIP):c.783C>T (p.Tyr261=)
|
rs267606576
|
0.00001
|
NM_003977.4(AIP):c.787+3G>A
|
rs1266489288
|
0.00001
|
NM_003977.4(AIP):c.787G>A (p.Asp263Asn)
|
rs1467968646
|
0.00001
|
NM_003977.4(AIP):c.78G>A (p.Pro26=)
|
rs776131484
|
0.00001
|
NM_003977.4(AIP):c.792C>T (p.Asn264=)
|
rs780707460
|
0.00001
|
NM_003977.4(AIP):c.79G>C (p.Asp27His)
|
rs1024903808
|
0.00001
|
NM_003977.4(AIP):c.814G>A (p.Gly272Ser)
|
rs1317329881
|
0.00001
|
NM_003977.4(AIP):c.815G>T (p.Gly272Val)
|
rs779831121
|
0.00001
|
NM_003977.4(AIP):c.832G>A (p.Val278Met)
|
rs776652386
|
0.00001
|
NM_003977.4(AIP):c.874C>G (p.Leu292Val)
|
rs764465139
|
0.00001
|
NM_003977.4(AIP):c.885C>T (p.Asp295=)
|
rs1384518387
|
0.00001
|
NM_003977.4(AIP):c.88G>T (p.Asp30Tyr)
|
rs1323103083
|
0.00001
|
NM_003977.4(AIP):c.897G>A (p.Ala299=)
|
rs1452040699
|
0.00001
|
NM_003977.4(AIP):c.90T>C (p.Asp30=)
|
rs374324200
|
0.00001
|
NM_003977.4(AIP):c.910C>T (p.Arg304Ter)
|
rs104894195
|
0.00001
|
NM_003977.4(AIP):c.913G>A (p.Glu305Lys)
|
rs923956036
|
0.00001
|
NM_003977.4(AIP):c.925C>T (p.Leu309=)
|
rs747004653
|
0.00001
|
NM_003977.4(AIP):c.934C>T (p.Arg312Trp)
|
rs769858610
|
0.00001
|
NM_003977.4(AIP):c.93G>T (p.Gly31=)
|
rs371636632
|
0.00001
|
NM_003977.4(AIP):c.944A>C (p.Gln315Pro)
|
rs886048585
|
0.00001
|
NM_003977.4(AIP):c.952G>A (p.Glu318Lys)
|
rs1009569366
|
0.00001
|
NM_003977.4(AIP):c.969G>A (p.Arg323=)
|
rs1449631515
|
0.00001
|
NM_003977.4(AIP):c.97A>G (p.Lys33Glu)
|
rs750116890
|
0.00001
|
NM_003977.4(AIP):c.986C>T (p.Ser329Phe)
|
rs764765680
|
0.00001
|
NM_003977.4(AIP):c.99+8T>A
|
rs749243552
|
0.00001
|
NM_003977.4(AIP):c.990T>C (p.His330=)
|
rs752438976
|
0.00001
|
NC_000011.10:g.67482773dup
|
rs201817175
|
|
NC_000011.9:g.(?_67250360)_(67250738_?)del
|
|
|
NC_000011.9:g.(?_67250360)_(67254666_?)del
|
|
|
NC_000011.9:g.(?_67250360)_(67258464_?)del
|
|
|
NC_000011.9:g.(?_67250360)_(67258464_?)dup
|
|
|
NC_000011.9:g.(?_67250630)_(67250738_?)dup
|
|
|
NC_000011.9:g.(?_67250630)_(67258464_?)dup
|
|
|
NC_000011.9:g.(?_67254459)_(67254666_?)del
|
|
|
NC_000011.9:g.(?_67254459)_(67258464_?)dup
|
|
|
NM_003977.2(AIP):c.(?_1)_(*_?)del
|
|
|
NM_003977.3(AIP):c.74_81delTCCCGGACins7
|
|
|
NM_003977.3(AIP):c.[878_879delAGinsGT];[880_891delCTGGACCCAGCC]
|
|
|
NM_003977.4(AIP):c.-12C>G
|
rs551077555
|
|
NM_003977.4(AIP):c.-2G>A
|
|
|
NM_003977.4(AIP):c.-2G>C
|
rs377710724
|
|
NM_003977.4(AIP):c.-5G>A
|
|
|
NM_003977.4(AIP):c.-85C>T
|
rs1565180279
|
|
NM_003977.4(AIP):c.10A>G (p.Ile4Val)
|
rs1865725901
|
|
NM_003977.4(AIP):c.10A>T (p.Ile4Phe)
|
rs1865725901
|
|
NM_003977.4(AIP):c.11T>C (p.Ile4Thr)
|
|
|
NM_003977.4(AIP):c.12C>A (p.Ile4=)
|
rs756870384
|
|
NM_003977.4(AIP):c.12C>T (p.Ile4=)
|
|
|
NM_003977.4(AIP):c.15C>T (p.Ile5=)
|
rs2134247642
|
|
NM_003977.4(AIP):c.16G>A (p.Ala6Thr)
|
|
|
NM_003977.4(AIP):c.16G>T (p.Ala6Ser)
|
|
|
NM_003977.4(AIP):c.17C>A (p.Ala6Glu)
|
|
|
NM_003977.4(AIP):c.17C>T (p.Ala6Val)
|
|
|
NM_003977.4(AIP):c.24C>G (p.Leu8=)
|
|
|
NM_003977.4(AIP):c.24C>T (p.Leu8=)
|
rs1865726217
|
|
NM_003977.4(AIP):c.25C>T (p.Arg9Trp)
|
rs1057523115
|
|
NM_003977.4(AIP):c.26G>T (p.Arg9Leu)
|
|
|
NM_003977.4(AIP):c.270T>C (p.Cys90=)
|
|
|
NM_003977.4(AIP):c.272A>G (p.Asp91Gly)
|
rs1591042829
|
|
NM_003977.4(AIP):c.273C>A (p.Asp91Glu)
|
|
|
NM_003977.4(AIP):c.274A>G (p.Ile92Val)
|
rs1202522544
|
|
NM_003977.4(AIP):c.275T>C (p.Ile92Thr)
|
rs2134251332
|
|
NM_003977.4(AIP):c.276C>T (p.Ile92=)
|
|
|
NM_003977.4(AIP):c.277A>G (p.Lys93Glu)
|
rs2134251336
|
|
NM_003977.4(AIP):c.279+10C>T
|
|
|
NM_003977.4(AIP):c.279+12G>A
|
|
|
NM_003977.4(AIP):c.279+18G>A
|
rs2134251361
|
|
NM_003977.4(AIP):c.279+19T>C
|
|
|
NM_003977.4(AIP):c.279+20C>T
|
|
|
NM_003977.4(AIP):c.279+3_279+4del
|
|
|
NM_003977.4(AIP):c.279+4T>C
|
|
|
NM_003977.4(AIP):c.279+5C>G
|
|
|
NM_003977.4(AIP):c.279+6_279+9del
|
rs1179492033
|
|
NM_003977.4(AIP):c.279+8T>G
|
rs2134251349
|
|
NM_003977.4(AIP):c.279G>A (p.Lys93=)
|
|
|
NM_003977.4(AIP):c.280-10C>T
|
|
|
NM_003977.4(AIP):c.280-11C>T
|
|
|
NM_003977.4(AIP):c.280-17C>T
|
|
|
NM_003977.4(AIP):c.280-1G>A
|
rs267606544
|
|
NM_003977.4(AIP):c.280-383dup
|
|
|
NM_003977.4(AIP):c.280-3C>A
|
|
|
NM_003977.4(AIP):c.280-5C>A
|
rs907846305
|
|
NM_003977.4(AIP):c.280-6C>A
|
|
|
NM_003977.4(AIP):c.280-7C>T
|
rs775261713
|
|
NM_003977.4(AIP):c.282T>C (p.His94=)
|
|
|
NM_003977.4(AIP):c.283G>A (p.Val95Met)
|
|
|
NM_003977.4(AIP):c.283G>T (p.Val95Leu)
|
|
|
NM_003977.4(AIP):c.285G>T (p.Val95=)
|
rs774293360
|
|
NM_003977.4(AIP):c.286G>A (p.Val96Ile)
|
|
|
NM_003977.4(AIP):c.286_287del (p.Val96fs)
|
rs267606545
|
|
NM_003977.4(AIP):c.288C>A (p.Val96=)
|
|
|
NM_003977.4(AIP):c.289C>T (p.Leu97=)
|
rs2134253247
|
|
NM_003977.4(AIP):c.28G>A (p.Glu10Lys)
|
|
|
NM_003977.4(AIP):c.291G>T (p.Leu97=)
|
rs146865791
|
|
NM_003977.4(AIP):c.294C>T (p.Tyr98=)
|
rs2134253261
|
|
NM_003977.4(AIP):c.298C>G (p.Leu100Val)
|
|
|
NM_003977.4(AIP):c.298C>T (p.Leu100=)
|
rs1865847701
|
|
NM_003977.4(AIP):c.29A>G (p.Glu10Gly)
|
rs2134247661
|
|
NM_003977.4(AIP):c.2T>C (p.Met1Thr)
|
rs267606546
|
|
NM_003977.4(AIP):c.300G>C (p.Leu100=)
|
|
|
NM_003977.4(AIP):c.301_423del (p.Val101_Leu141del)
|
|
|
NM_003977.4(AIP):c.303G>A (p.Val101=)
|
|
|
NM_003977.4(AIP):c.305_331del (p.Ala102_Val110del)
|
|
|
NM_003977.4(AIP):c.308A>G (p.Lys103Arg)
|
rs267606548
|
|
NM_003977.4(AIP):c.30G>A (p.Glu10=)
|
rs2134247667
|
|
NM_003977.4(AIP):c.315C>T (p.Leu105=)
|
|
|
NM_003977.4(AIP):c.317G>T (p.Arg106Leu)
|
rs373950586
|
|
NM_003977.4(AIP):c.318C>T (p.Arg106=)
|
rs2134253298
|
|
NM_003977.4(AIP):c.31G>T (p.Asp11Tyr)
|
|
|
NM_003977.4(AIP):c.320A>T (p.Asn107Ile)
|
|
|
NM_003977.4(AIP):c.321C>G (p.Asn107Lys)
|
rs901955664
|
|
NM_003977.4(AIP):c.321C>T (p.Asn107=)
|
|
|
NM_003977.4(AIP):c.324C>G (p.Ile108Met)
|
rs376808382
|
|
NM_003977.4(AIP):c.324C>T (p.Ile108=)
|
|
|
NM_003977.4(AIP):c.325G>C (p.Ala109Pro)
|
|
|
NM_003977.4(AIP):c.327G>T (p.Ala109=)
|
|
|
NM_003977.4(AIP):c.328G>A (p.Val110Met)
|
rs1591044731
|
|
NM_003977.4(AIP):c.332G>A (p.Gly111Asp)
|
|
|
NM_003977.4(AIP):c.333C>T (p.Gly111=)
|
|
|
NM_003977.4(AIP):c.333del (p.Lys112fs)
|
rs1865848848
|
|
NM_003977.4(AIP):c.335A>G (p.Lys112Arg)
|
rs1865848964
|
|
NM_003977.4(AIP):c.336G>A (p.Lys112=)
|
rs2134253340
|
|
NM_003977.4(AIP):c.339C>A (p.Asp113Glu)
|
|
|
NM_003977.4(AIP):c.33C>G (p.Asp11Glu)
|
|
|
NM_003977.4(AIP):c.340C>T (p.Pro114Ser)
|
rs1188978575
|
|
NM_003977.4(AIP):c.341C>A (p.Pro114His)
|
rs1865849163
|
|
NM_003977.4(AIP):c.343dup (p.Leu115fs)
|
rs2134253352
|
|
NM_003977.4(AIP):c.345G>A (p.Leu115=)
|
rs996404334
|
|
NM_003977.4(AIP):c.346G>A (p.Glu116Lys)
|
rs2134253374
|
|
NM_003977.4(AIP):c.347A>C (p.Glu116Ala)
|
|
|
NM_003977.4(AIP):c.347A>G (p.Glu116Gly)
|
|
|
NM_003977.4(AIP):c.347_373del (p.Glu116_Val124del)
|
rs1591044758
|
|
NM_003977.4(AIP):c.348G>A (p.Glu116=)
|
rs1865849370
|
|
NM_003977.4(AIP):c.34G>A (p.Gly12Arg)
|
|
|
NM_003977.4(AIP):c.350G>A (p.Gly117Asp)
|
|
|
NM_003977.4(AIP):c.350del (p.Gly117fs)
|
rs267606549
|
|
NM_003977.4(AIP):c.353A>C (p.Gln118Pro)
|
|
|
NM_003977.4(AIP):c.357G>A (p.Arg119=)
|
|
|
NM_003977.4(AIP):c.357G>C (p.Arg119=)
|
|
|
NM_003977.4(AIP):c.357G>T (p.Arg119=)
|
|
|
NM_003977.4(AIP):c.358C>T (p.His120Tyr)
|
|
|
NM_003977.4(AIP):c.359A>C (p.His120Pro)
|
|
|
NM_003977.4(AIP):c.35G>C (p.Gly12Ala)
|
|
|
NM_003977.4(AIP):c.360C>T (p.His120=)
|
|
|
NM_003977.4(AIP):c.361T>C (p.Cys121Arg)
|
|
|
NM_003977.4(AIP):c.361_362del (p.Cys121fs)
|
|
|
NM_003977.4(AIP):c.363C>T (p.Cys121=)
|
|
|
NM_003977.4(AIP):c.368G>A (p.Gly123Asp)
|
|
|
NM_003977.4(AIP):c.368G>C (p.Gly123Ala)
|
|
|
NM_003977.4(AIP):c.36G>C (p.Gly12=)
|
rs79662690
|
|
NM_003977.4(AIP):c.36G>T (p.Gly12=)
|
rs79662690
|
|
NM_003977.4(AIP):c.376C>T (p.Gln126Ter)
|
|
|
NM_003977.4(AIP):c.379A>G (p.Met127Val)
|
rs1591044815
|
|
NM_003977.4(AIP):c.37A>G (p.Ile13Val)
|
rs1865726668
|
|
NM_003977.4(AIP):c.383G>C (p.Arg128Pro)
|
|
|
NM_003977.4(AIP):c.388C>T (p.His130Tyr)
|
|
|
NM_003977.4(AIP):c.389A>C (p.His130Pro)
|
|
|
NM_003977.4(AIP):c.38T>A (p.Ile13Asn)
|
rs376913545
|
|
NM_003977.4(AIP):c.391A>G (p.Ser131Gly)
|
rs1015608491
|
|
NM_003977.4(AIP):c.397C>A (p.Leu133Met)
|
|
|
NM_003977.4(AIP):c.397C>T (p.Leu133=)
|
rs2134253478
|
|
NM_003977.4(AIP):c.398T>C (p.Leu133Pro)
|
|
|
NM_003977.4(AIP):c.39C>T (p.Ile13=)
|
rs1865726781
|
|
NM_003977.4(AIP):c.3G>A (p.Met1Ile)
|
rs886037871
|
|
NM_003977.4(AIP):c.3_4insC (p.Ala2fs)
|
rs267606547
|
|
NM_003977.4(AIP):c.402C>T (p.Gly134=)
|
|
|
NM_003977.4(AIP):c.404del (p.His135fs)
|
rs267606551
|
|
NM_003977.4(AIP):c.406G>A (p.Ala136Thr)
|
rs775549178
|
|
NM_003977.4(AIP):c.412C>T (p.Leu138=)
|
|
|
NM_003977.4(AIP):c.415G>C (p.Asp139His)
|
|
|
NM_003977.4(AIP):c.417C>G (p.Asp139Glu)
|
rs149570102
|
|
NM_003977.4(AIP):c.418G>A (p.Ala140Thr)
|
rs751771656
|
|
NM_003977.4(AIP):c.41_47del (p.Gln14fs)
|
|
|
NM_003977.4(AIP):c.423G>A (p.Leu141=)
|
rs1565182920
|
|
NM_003977.4(AIP):c.424C>T (p.Gln142Ter)
|
rs267606552
|
|
NM_003977.4(AIP):c.426G>A (p.Gln142=)
|
rs767830212
|
|
NM_003977.4(AIP):c.427C>G (p.Gln143Glu)
|
|
|
NM_003977.4(AIP):c.427C>T (p.Gln143Ter)
|
|
|
NM_003977.4(AIP):c.429G>A (p.Gln143=)
|
rs267606553
|
|
NM_003977.4(AIP):c.432C>T (p.Asn144=)
|
rs1477351148
|
|
NM_003977.4(AIP):c.433C>G (p.Pro145Ala)
|
rs1865853260
|
|
NM_003977.4(AIP):c.433C>T (p.Pro145Ser)
|
rs1865853260
|
|
NM_003977.4(AIP):c.434C>A (p.Pro145His)
|
|
|
NM_003977.4(AIP):c.434C>T (p.Pro145Leu)
|
|
|
NM_003977.4(AIP):c.435C>G (p.Pro145=)
|
|
|
NM_003977.4(AIP):c.435C>T (p.Pro145=)
|
|
|
NM_003977.4(AIP):c.436C>G (p.Gln146Glu)
|
|
|
NM_003977.4(AIP):c.437A>C (p.Gln146Pro)
|
|
|
NM_003977.4(AIP):c.437A>G (p.Gln146Arg)
|
|
|
NM_003977.4(AIP):c.439C>A (p.Pro147Thr)
|
|
|
NM_003977.4(AIP):c.439C>T (p.Pro147Ser)
|
rs2134253545
|
|
NM_003977.4(AIP):c.440C>T (p.Pro147Leu)
|
|
|
NM_003977.4(AIP):c.441C>A (p.Pro147=)
|
rs1315198555
|
|
NM_003977.4(AIP):c.445A>G (p.Ile149Val)
|
rs1865853604
|
|
NM_003977.4(AIP):c.447C>T (p.Ile149=)
|
rs1591044934
|
|
NM_003977.4(AIP):c.448T>C (p.Phe150Leu)
|
rs1865853767
|
|
NM_003977.4(AIP):c.454A>T (p.Met152Leu)
|
|
|
NM_003977.4(AIP):c.455T>G (p.Met152Arg)
|
|
|
NM_003977.4(AIP):c.456G>A (p.Met152Ile)
|
|
|
NM_003977.4(AIP):c.457G>A (p.Glu153Lys)
|
|
|
NM_003977.4(AIP):c.458A>G (p.Glu153Gly)
|
rs2134253575
|
|
NM_003977.4(AIP):c.459G>T (p.Glu153Asp)
|
rs2134253579
|
|
NM_003977.4(AIP):c.45A>G (p.Lys15=)
|
|
|
NM_003977.4(AIP):c.45A>T (p.Lys15Asn)
|
|
|
NM_003977.4(AIP):c.463C>T (p.Leu155=)
|
|
|
NM_003977.4(AIP):c.464T>G (p.Leu155Arg)
|
rs2134253589
|
|
NM_003977.4(AIP):c.465G>A (p.Leu155=)
|
|
|
NM_003977.4(AIP):c.466_467delinsGC (p.Lys156Ala)
|
rs2134253594
|
|
NM_003977.4(AIP):c.468+10C>T
|
|
|
NM_003977.4(AIP):c.468+111C>T
|
rs4084113
|
|
NM_003977.4(AIP):c.468+16G>C
|
rs267607273
|
|
NM_003977.4(AIP):c.468+16G>T
|
rs267607273
|
|
NM_003977.4(AIP):c.468+1G>A
|
rs267606554
|
|
NM_003977.4(AIP):c.468+7G>A
|
rs2134253610
|
|
NM_003977.4(AIP):c.468+9C>A
|
rs373159347
|
|
NM_003977.4(AIP):c.469-13C>T
|
rs1865868044
|
|
NM_003977.4(AIP):c.469-147_469-144dup
|
rs5792416
|
|
NM_003977.4(AIP):c.469-15C>T
|
|
|
NM_003977.4(AIP):c.469-19T>C
|
|
|
NM_003977.4(AIP):c.469-1G>A
|
rs267606555
|
|
NM_003977.4(AIP):c.469-2A>G
|
rs267606556
|
|
NM_003977.4(AIP):c.469-3C>T
|
|
|
NM_003977.4(AIP):c.469-6C>A
|
|
|
NM_003977.4(AIP):c.469-6C>G
|
|
|
NM_003977.4(AIP):c.469-9G>A
|
rs748209642
|
|
NM_003977.4(AIP):c.469G>A (p.Val157Met)
|
|
|
NM_003977.4(AIP):c.470T>A (p.Val157Glu)
|
|
|
NM_003977.4(AIP):c.474G>A (p.Glu158=)
|
rs1245383191
|
|
NM_003977.4(AIP):c.474G>C (p.Glu158Asp)
|
|
|
NM_003977.4(AIP):c.474G>T (p.Glu158Asp)
|
rs1245383191
|
|
NM_003977.4(AIP):c.477C>A (p.Ser159Arg)
|
rs1360672946
|
|
NM_003977.4(AIP):c.478C>A (p.Pro160Thr)
|
rs1865868625
|
|
NM_003977.4(AIP):c.478C>T (p.Pro160Ser)
|
rs1865868625
|
|
NM_003977.4(AIP):c.479C>G (p.Pro160Arg)
|
|
|
NM_003977.4(AIP):c.481G>A (p.Gly161Ser)
|
rs939893450
|
|
NM_003977.4(AIP):c.481G>C (p.Gly161Arg)
|
|
|
NM_003977.4(AIP):c.482G>C (p.Gly161Ala)
|
|
|
NM_003977.4(AIP):c.483C>G (p.Gly161=)
|
rs2134254546
|
|
NM_003977.4(AIP):c.483C>T (p.Gly161=)
|
|
|
NM_003977.4(AIP):c.484A>G (p.Thr162Ala)
|
|
|
NM_003977.4(AIP):c.485C>T (p.Thr162Met)
|
rs764344774
|
|
NM_003977.4(AIP):c.486G>C (p.Thr162=)
|
|
|
NM_003977.4(AIP):c.489C>T (p.Tyr163=)
|
rs2134254570
|
|
NM_003977.4(AIP):c.48T>C (p.Arg16=)
|
|
|
NM_003977.4(AIP):c.490C>T (p.Gln164Ter)
|
rs104895073
|
|
NM_003977.4(AIP):c.493C>T (p.Gln165Ter)
|
|
|
NM_003977.4(AIP):c.496G>A (p.Asp166Asn)
|
|
|
NM_003977.4(AIP):c.497A>T (p.Asp166Val)
|
rs2134254587
|
|
NM_003977.4(AIP):c.498C>T (p.Asp166=)
|
|
|
NM_003977.4(AIP):c.4G>C (p.Ala2Pro)
|
rs1591039762
|
|
NM_003977.4(AIP):c.500del (p.Pro167fs)
|
rs267606557
|
|
NM_003977.4(AIP):c.501A>C (p.Pro167=)
|
|
|
NM_003977.4(AIP):c.501A>G (p.Pro167=)
|
rs1443436644
|
|
NM_003977.4(AIP):c.502T>C (p.Trp168Arg)
|
|
|
NM_003977.4(AIP):c.502T>G (p.Trp168Gly)
|
|
|
NM_003977.4(AIP):c.504G>A (p.Trp168Ter)
|
rs2134254613
|
|
NM_003977.4(AIP):c.504_510del (p.Pro167_Trp168insTer)
|
|
|
NM_003977.4(AIP):c.510G>A (p.Met170Ile)
|
|
|
NM_003977.4(AIP):c.511A>G (p.Thr171Ala)
|
rs2134254626
|
|
NM_003977.4(AIP):c.512C>G (p.Thr171Arg)
|
|
|
NM_003977.4(AIP):c.512C>T (p.Thr171Ile)
|
rs1287485768
|
|
NM_003977.4(AIP):c.513A>G (p.Thr171=)
|
|
|
NM_003977.4(AIP):c.519A>G (p.Glu173=)
|
|
|
NM_003977.4(AIP):c.51G>C (p.Val17=)
|
|
|
NM_003977.4(AIP):c.520G>C (p.Glu174Gln)
|
|
|
NM_003977.4(AIP):c.521_525del (p.Glu174fs)
|
rs267606558
|
|
NM_003977.4(AIP):c.523A>C (p.Lys175Gln)
|
|
|
NM_003977.4(AIP):c.525G>A (p.Lys175=)
|
|
|
NM_003977.4(AIP):c.526G>A (p.Ala176Thr)
|
rs1591045889
|
|
NM_003977.4(AIP):c.528A>T (p.Ala176=)
|
|
|
NM_003977.4(AIP):c.531G>A (p.Lys177=)
|
|
|
NM_003977.4(AIP):c.533C>T (p.Ala178Val)
|
rs763723045
|
|
NM_003977.4(AIP):c.534A>G (p.Ala178=)
|
rs946777819
|
|
NM_003977.4(AIP):c.537G>C (p.Val179=)
|
|
|
NM_003977.4(AIP):c.537G>T (p.Val179=)
|
|
|
NM_003977.4(AIP):c.538C>T (p.Pro180Ser)
|
rs2134254712
|
|
NM_003977.4(AIP):c.539C>A (p.Pro180Gln)
|
|
|
NM_003977.4(AIP):c.539C>T (p.Pro180Leu)
|
rs1865871178
|
|
NM_003977.4(AIP):c.53T>C (p.Ile18Thr)
|
rs773224238
|
|
NM_003977.4(AIP):c.540A>C (p.Pro180=)
|
|
|
NM_003977.4(AIP):c.540A>G (p.Pro180=)
|
rs2134254718
|
|
NM_003977.4(AIP):c.540A>T (p.Pro180=)
|
|
|
NM_003977.4(AIP):c.541C>T (p.Leu181Phe)
|
rs1565183490
|
|
NM_003977.4(AIP):c.542T>G (p.Leu181Arg)
|
rs1379754372
|
|
NM_003977.4(AIP):c.543del (p.Ile182fs)
|
rs267606559
|
|
NM_003977.4(AIP):c.544A>G (p.Ile182Val)
|
|
|
NM_003977.4(AIP):c.544A>T (p.Ile182Phe)
|
|
|
NM_003977.4(AIP):c.546C>T (p.Ile182=)
|
|
|
NM_003977.4(AIP):c.549C>T (p.His183=)
|
|
|
NM_003977.4(AIP):c.550C>A (p.Gln184Lys)
|
|
|
NM_003977.4(AIP):c.550C>T (p.Gln184Ter)
|
rs267606560
|
|
NM_003977.4(AIP):c.553G>A (p.Glu185Lys)
|
rs925348950
|
|
NM_003977.4(AIP):c.553G>T (p.Glu185Ter)
|
rs925348950
|
|
NM_003977.4(AIP):c.557G>A (p.Gly186Asp)
|
|
|
NM_003977.4(AIP):c.558C>G (p.Gly186=)
|
|
|
NM_003977.4(AIP):c.564G>A (p.Arg188=)
|
|
|
NM_003977.4(AIP):c.567G>A (p.Leu189=)
|
rs750243392
|
|
NM_003977.4(AIP):c.567G>C (p.Leu189Phe)
|
rs750243392
|
|
NM_003977.4(AIP):c.567G>T (p.Leu189Phe)
|
rs750243392
|
|
NM_003977.4(AIP):c.56A>G (p.Gln19Arg)
|
rs2134247725
|
|
NM_003977.4(AIP):c.570C>T (p.Tyr190=)
|
|
|
NM_003977.4(AIP):c.572G>T (p.Arg191Leu)
|
|
|
NM_003977.4(AIP):c.573C>G (p.Arg191=)
|
rs781545373
|
|
NM_003977.4(AIP):c.579G>A (p.Gly193=)
|
|
|
NM_003977.4(AIP):c.57G>A (p.Gln19=)
|
rs2134247730
|
|
NM_003977.4(AIP):c.57G>C (p.Gln19His)
|
rs2134247730
|
|
NM_003977.4(AIP):c.582T>C (p.His194=)
|
|
|
NM_003977.4(AIP):c.587A>C (p.Lys196Thr)
|
rs1865873957
|
|
NM_003977.4(AIP):c.587A>G (p.Lys196Arg)
|
|
|
NM_003977.4(AIP):c.58G>A (p.Glu20Lys)
|
|
|
NM_003977.4(AIP):c.590A>G (p.Glu197Gly)
|
|
|
NM_003977.4(AIP):c.591G>T (p.Glu197Asp)
|
rs202006716
|
|
NM_003977.4(AIP):c.594T>G (p.Ala198=)
|
|
|
NM_003977.4(AIP):c.595G>C (p.Ala199Pro)
|
rs1865874165
|
|
NM_003977.4(AIP):c.59A>G (p.Glu20Gly)
|
|
|
NM_003977.4(AIP):c.5C>G (p.Ala2Gly)
|
|
|
NM_003977.4(AIP):c.600del (p.Lys201fs)
|
rs2134254903
|
|
NM_003977.4(AIP):c.601A>C (p.Lys201Gln)
|
|
|
NM_003977.4(AIP):c.601A>T (p.Lys201Ter)
|
rs267606563
|
|
NM_003977.4(AIP):c.602A>G (p.Lys201Arg)
|
rs1865874360
|
|
NM_003977.4(AIP):c.606C>G (p.Tyr202Ter)
|
|
|
NM_003977.4(AIP):c.606C>T (p.Tyr202=)
|
|
|
NM_003977.4(AIP):c.607T>C (p.Tyr203His)
|
|
|
NM_003977.4(AIP):c.607T>G (p.Tyr203Asp)
|
rs2134254920
|
|
NM_003977.4(AIP):c.608A>G (p.Tyr203Cys)
|
|
|
NM_003977.4(AIP):c.610G>A (p.Asp204Asn)
|
|
|
NM_003977.4(AIP):c.610G>C (p.Asp204His)
|
|
|
NM_003977.4(AIP):c.611A>G (p.Asp204Gly)
|
rs1865874602
|
|
NM_003977.4(AIP):c.614C>G (p.Ala205Gly)
|
|
|
NM_003977.4(AIP):c.615C>T (p.Ala205=)
|
|
|
NM_003977.4(AIP):c.617T>C (p.Ile206Thr)
|
|
|
NM_003977.4(AIP):c.619G>C (p.Ala207Pro)
|
|
|
NM_003977.4(AIP):c.61G>A (p.Gly21Ser)
|
|
|
NM_003977.4(AIP):c.620C>T (p.Ala207Val)
|
|
|
NM_003977.4(AIP):c.621C>A (p.Ala207=)
|
|
|
NM_003977.4(AIP):c.621C>T (p.Ala207=)
|
|
|
NM_003977.4(AIP):c.628A>C (p.Lys210Gln)
|
|
|
NM_003977.4(AIP):c.62G>A (p.Gly21Asp)
|
|
|
NM_003977.4(AIP):c.62G>C (p.Gly21Ala)
|
rs1865727360
|
|
NM_003977.4(AIP):c.630G>A (p.Lys210=)
|
rs937672207
|
|
NM_003977.4(AIP):c.631A>G (p.Asn211Asp)
|
|
|
NM_003977.4(AIP):c.631A>T (p.Asn211Tyr)
|
|
|
NM_003977.4(AIP):c.633C>G (p.Asn211Lys)
|
rs969728952
|
|
NM_003977.4(AIP):c.639G>A (p.Gln213=)
|
rs1194776324
|
|
NM_003977.4(AIP):c.641T>C (p.Met214Thr)
|
|
|
NM_003977.4(AIP):c.641T>G (p.Met214Arg)
|
|
|
NM_003977.4(AIP):c.641_643del (p.Met214del)
|
|
|
NM_003977.4(AIP):c.643A>T (p.Lys215Ter)
|
rs1591046113
|
|
NM_003977.4(AIP):c.644A>C (p.Lys215Thr)
|
|
|
NM_003977.4(AIP):c.645+15C>G
|
|
|
NM_003977.4(AIP):c.645+18_645+19del
|
rs2134255033
|
|
NM_003977.4(AIP):c.645+18_645+29del
|
|
|
NM_003977.4(AIP):c.645+19G>C
|
|
|
NM_003977.4(AIP):c.645+20G>C
|
|
|
NM_003977.4(AIP):c.645+20G>T
|
rs1428256285
|
|
NM_003977.4(AIP):c.645+23dup
|
|
|
NM_003977.4(AIP):c.645+2T>C
|
rs1293512916
|
|
NM_003977.4(AIP):c.645+4C>G
|
|
|
NM_003977.4(AIP):c.645+6G>A
|
rs1865875560
|
|
NM_003977.4(AIP):c.645+7C>T
|
|
|
NM_003977.4(AIP):c.645+8del
|
|
|
NM_003977.4(AIP):c.645G>C (p.Lys215Asn)
|
|
|
NM_003977.4(AIP):c.646G>T (p.Glu216Ter)
|
rs267606565
|
|
NM_003977.4(AIP):c.649C>A (p.Gln217Lys)
|
|
|
NM_003977.4(AIP):c.649C>G (p.Gln217Glu)
|
|
|
NM_003977.4(AIP):c.649C>T (p.Gln217Ter)
|
rs267606566
|
|
NM_003977.4(AIP):c.64C>A (p.Arg22=)
|
|
|
NM_003977.4(AIP):c.64C>T (p.Arg22Ter)
|
rs121908357
|
|
NM_003977.4(AIP):c.650A>G (p.Gln217Arg)
|
rs1865878548
|
|
NM_003977.4(AIP):c.651G>A (p.Gln217=)
|
|
|
NM_003977.4(AIP):c.651G>C (p.Gln217His)
|
rs2134255259
|
|
NM_003977.4(AIP):c.657G>A (p.Gly219=)
|
|
|
NM_003977.4(AIP):c.657G>T (p.Gly219=)
|
|
|
NM_003977.4(AIP):c.659C>T (p.Ser220Phe)
|
rs1488470719
|
|
NM_003977.4(AIP):c.65G>A (p.Arg22Gln)
|
|
|
NM_003977.4(AIP):c.660C>T (p.Ser220=)
|
rs776495655
|
|
NM_003977.4(AIP):c.661C>T (p.Pro221Ser)
|
rs1309976810
|
|
NM_003977.4(AIP):c.662C>T (p.Pro221Leu)
|
rs1426023503
|
|
NM_003977.4(AIP):c.662dup (p.Pro221_Glu222insTer)
|
rs104895075
|
|
NM_003977.4(AIP):c.663T>C (p.Pro221=)
|
|
|
NM_003977.4(AIP):c.663del (p.Glu222fs)
|
rs1865878972
|
|
NM_003977.4(AIP):c.664G>A (p.Glu222Lys)
|
|
|
NM_003977.4(AIP):c.666A>G (p.Glu222=)
|
rs2134255280
|
|
NM_003977.4(AIP):c.668G>C (p.Trp223Ser)
|
rs2134255281
|
|
NM_003977.4(AIP):c.66A>C (p.Arg22=)
|
|
|
NM_003977.4(AIP):c.66_71del (p.Gly23_Glu24del)
|
rs267606567
|
|
NM_003977.4(AIP):c.670A>G (p.Ile224Val)
|
|
|
NM_003977.4(AIP):c.672C>A (p.Ile224=)
|
|
|
NM_003977.4(AIP):c.672C>G (p.Ile224Met)
|
|
|
NM_003977.4(AIP):c.672C>T (p.Ile224=)
|
rs1170014080
|
|
NM_003977.4(AIP):c.673C>T (p.Gln225Ter)
|
rs2134255291
|
|
NM_003977.4(AIP):c.675G>A (p.Gln225=)
|
rs759338901
|
|
NM_003977.4(AIP):c.676C>G (p.Leu226Val)
|
|
|
NM_003977.4(AIP):c.682C>G (p.Gln228Glu)
|
|
|
NM_003977.4(AIP):c.682_684delinsAAA (p.Gln228Lys)
|
|
|
NM_003977.4(AIP):c.684G>A (p.Gln228=)
|
rs1365555914
|
|
NM_003977.4(AIP):c.685C>G (p.Gln229Glu)
|
rs1400972107
|
|
NM_003977.4(AIP):c.685C>T (p.Gln229Ter)
|
rs1400972107
|
|
NM_003977.4(AIP):c.692CGC[3] (p.Pro232_Leu233insPro)
|
|
|
NM_003977.4(AIP):c.694C>T (p.Pro232Ser)
|
rs2134255355
|
|
NM_003977.4(AIP):c.696G>C (p.Pro232=)
|
rs780232812
|
|
NM_003977.4(AIP):c.697C>T (p.Leu233=)
|
|
|
NM_003977.4(AIP):c.698T>C (p.Leu233Pro)
|
|
|
NM_003977.4(AIP):c.703C>A (p.Leu235Ile)
|
|
|
NM_003977.4(AIP):c.705C>T (p.Leu235=)
|
rs1464580715
|
|
NM_003977.4(AIP):c.707A>G (p.Asn236Ser)
|
|
|
NM_003977.4(AIP):c.708C>T (p.Asn236=)
|
|
|
NM_003977.4(AIP):c.70G>A (p.Glu24Lys)
|
|
|
NM_003977.4(AIP):c.70G>T (p.Glu24Ter)
|
rs267606568
|
|
NM_003977.4(AIP):c.710A>G (p.Tyr237Cys)
|
rs1591046437
|
|
NM_003977.4(AIP):c.713G>A (p.Cys238Tyr)
|
rs267606569
|
|
NM_003977.4(AIP):c.714C>T (p.Cys238=)
|
rs267606570
|
|
NM_003977.4(AIP):c.715C>T (p.Gln239Ter)
|
rs267606571
|
|
NM_003977.4(AIP):c.717G>A (p.Gln239=)
|
|
|
NM_003977.4(AIP):c.718T>C (p.Cys240Arg)
|
|
|
NM_003977.4(AIP):c.719G>A (p.Cys240Tyr)
|
rs2134255464
|
|
NM_003977.4(AIP):c.719G>C (p.Cys240Ser)
|
|
|
NM_003977.4(AIP):c.721A>T (p.Lys241Ter)
|
rs267606573
|
|
NM_003977.4(AIP):c.723G>A (p.Lys241=)
|
|
|
NM_003977.4(AIP):c.726G>A (p.Leu242=)
|
rs2134255485
|
|
NM_003977.4(AIP):c.726G>C (p.Leu242=)
|
rs2134255485
|
|
NM_003977.4(AIP):c.726_727delinsAA (p.Val243Met)
|
|
|
NM_003977.4(AIP):c.727G>C (p.Val243Leu)
|
rs1385147597
|
|
NM_003977.4(AIP):c.732C>G (p.Val244=)
|
|
|
NM_003977.4(AIP):c.732C>T (p.Val244=)
|
rs770634613
|
|
NM_003977.4(AIP):c.733G>C (p.Glu245Gln)
|
|
|
NM_003977.4(AIP):c.733GAG[1] (p.Glu246del)
|
|
|
NM_003977.4(AIP):c.738G>A (p.Glu246=)
|
|
|
NM_003977.4(AIP):c.738G>T (p.Glu246Asp)
|
|
|
NM_003977.4(AIP):c.739TAC[1] (p.Tyr248del)
|
rs267606574
|
|
NM_003977.4(AIP):c.73C>G (p.Leu25Val)
|
|
|
NM_003977.4(AIP):c.740A>T (p.Tyr247Phe)
|
|
|
NM_003977.4(AIP):c.742T>C (p.Tyr248His)
|
|
|
NM_003977.4(AIP):c.745G>C (p.Glu249Gln)
|
|
|
NM_003977.4(AIP):c.747G>A (p.Glu249=)
|
|
|
NM_003977.4(AIP):c.748G>C (p.Val250Leu)
|
|
|
NM_003977.4(AIP):c.750G>C (p.Val250=)
|
|
|
NM_003977.4(AIP):c.751C>G (p.Leu251Val)
|
|
|
NM_003977.4(AIP):c.753G>T (p.Leu251=)
|
|
|
NM_003977.4(AIP):c.757C>T (p.His253Tyr)
|
|
|
NM_003977.4(AIP):c.759C>G (p.His253Gln)
|
|
|
NM_003977.4(AIP):c.75C>A (p.Leu25=)
|
|
|
NM_003977.4(AIP):c.769A>G (p.Ile257Val)
|
rs267606575
|
|
NM_003977.4(AIP):c.76C>G (p.Pro26Ala)
|
|
|
NM_003977.4(AIP):c.770T>G (p.Ile257Ser)
|
|
|
NM_003977.4(AIP):c.771C>A (p.Ile257=)
|
|
|
NM_003977.4(AIP):c.771C>T (p.Ile257=)
|
|
|
NM_003977.4(AIP):c.772C>T (p.Leu258Phe)
|
rs779315334
|
|
NM_003977.4(AIP):c.774C>A (p.Leu258=)
|
|
|
NM_003977.4(AIP):c.774C>T (p.Leu258=)
|
|
|
NM_003977.4(AIP):c.776A>G (p.Asn259Ser)
|
rs2134255605
|
|
NM_003977.4(AIP):c.777C>G (p.Asn259Lys)
|
|
|
NM_003977.4(AIP):c.777C>T (p.Asn259=)
|
|
|
NM_003977.4(AIP):c.77C>G (p.Pro26Arg)
|
rs2134247769
|
|
NM_003977.4(AIP):c.77C>T (p.Pro26Leu)
|
|
|
NM_003977.4(AIP):c.780G>A (p.Lys260=)
|
rs748587494
|
|
NM_003977.4(AIP):c.780G>C (p.Lys260Asn)
|
rs748587494
|
|
NM_003977.4(AIP):c.783C>G (p.Tyr261Ter)
|
|
|
NM_003977.4(AIP):c.784GAC[1] (p.Asp263del)
|
rs770434824
|
|
NM_003977.4(AIP):c.786C>A (p.Asp262Glu)
|
|
|
NM_003977.4(AIP):c.787+10G>A
|
rs776322323
|
|
NM_003977.4(AIP):c.787+10G>C
|
|
|
NM_003977.4(AIP):c.787+12G>C
|
|
|
NM_003977.4(AIP):c.787+12G>T
|
rs548885136
|
|
NM_003977.4(AIP):c.787+19G>A
|
|
|
NM_003977.4(AIP):c.787+24_787+33del
|
rs1002167294
|
|
NM_003977.4(AIP):c.788-10T>G
|
rs2134256337
|
|
NM_003977.4(AIP):c.788-11C>G
|
|
|
NM_003977.4(AIP):c.788-12C>T
|
|
|
NM_003977.4(AIP):c.788-14G>A
|
|
|
NM_003977.4(AIP):c.788-17A>G
|
rs1472824786
|
|
NM_003977.4(AIP):c.788-29TGCCCAC[3]
|
rs540045132
|
|
NM_003977.4(AIP):c.788-4G>T
|
rs1865892587
|
|
NM_003977.4(AIP):c.788-5T>C
|
|
|
NM_003977.4(AIP):c.788-6C>T
|
rs2134256348
|
|
NM_003977.4(AIP):c.788-8C>T
|
|
|
NM_003977.4(AIP):c.788-9C>T
|
|
|
NM_003977.4(AIP):c.78G>T (p.Pro26=)
|
|
|
NM_003977.4(AIP):c.790A>G (p.Asn264Asp)
|
rs2134256373
|
|
NM_003977.4(AIP):c.790_792del (p.Asn264del)
|
rs760690172
|
|
NM_003977.4(AIP):c.791A>C (p.Asn264Thr)
|
|
|
NM_003977.4(AIP):c.793G>A (p.Val265Ile)
|
|
|
NM_003977.4(AIP):c.795C>G (p.Val265=)
|
|
|
NM_003977.4(AIP):c.799G>A (p.Ala267Thr)
|
rs2134256389
|
|
NM_003977.4(AIP):c.801C>T (p.Ala267=)
|
rs1386796386
|
|
NM_003977.4(AIP):c.802T>C (p.Tyr268His)
|
|
|
NM_003977.4(AIP):c.803A>G (p.Tyr268Cys)
|
rs267606577
|
|
NM_003977.4(AIP):c.804C>A (p.Tyr268Ter)
|
rs121908356
|
|
NM_003977.4(AIP):c.804C>T (p.Tyr268=)
|
rs121908356
|
|
NM_003977.4(AIP):c.805T>C (p.Phe269Leu)
|
|
|
NM_003977.4(AIP):c.805_825dup (p.Phe269_His275dup)
|
rs267606578
|
|
NM_003977.4(AIP):c.807C>A (p.Phe269Leu)
|
|
|
NM_003977.4(AIP):c.807C>G (p.Phe269Leu)
|
|
|
NM_003977.4(AIP):c.809A>C (p.Lys270Thr)
|
|
|
NM_003977.4(AIP):c.80A>C (p.Asp27Ala)
|
|
|
NM_003977.4(AIP):c.811C>T (p.Arg271Trp)
|
rs267606579
|
|
NM_003977.4(AIP):c.812G>A (p.Arg271Gln)
|
rs1448828883
|
|
NM_003977.4(AIP):c.814G>C (p.Gly272Arg)
|
|
|
NM_003977.4(AIP):c.816C>T (p.Gly272=)
|
|
|
NM_003977.4(AIP):c.816del (p.Lys273fs)
|
|
|
NM_003977.4(AIP):c.818A>C (p.Lys273Thr)
|
|
|
NM_003977.4(AIP):c.819G>A (p.Lys273=)
|
|
|
NM_003977.4(AIP):c.81C>A (p.Asp27Glu)
|
|
|
NM_003977.4(AIP):c.81C>T (p.Asp27=)
|
|
|
NM_003977.4(AIP):c.820G>A (p.Ala274Thr)
|
rs2134256437
|
|
NM_003977.4(AIP):c.820_821delinsTT (p.Ala274Phe)
|
|
|
NM_003977.4(AIP):c.821C>T (p.Ala274Val)
|
|
|
NM_003977.4(AIP):c.823C>T (p.His275Tyr)
|
|
|
NM_003977.4(AIP):c.824dup (p.His275fs)
|
rs267606580
|
|
NM_003977.4(AIP):c.826G>A (p.Ala276Thr)
|
rs778575382
|
|
NM_003977.4(AIP):c.827C>G (p.Ala276Gly)
|
rs61741147
|
|
NM_003977.4(AIP):c.829G>C (p.Ala277Pro)
|
rs267606581
|
|
NM_003977.4(AIP):c.82T>C (p.Phe28Leu)
|
|
|
NM_003977.4(AIP):c.830C>T (p.Ala277Val)
|
|
|
NM_003977.4(AIP):c.832G>T (p.Val278Leu)
|
rs776652386
|
|
NM_003977.4(AIP):c.834G>A (p.Val278=)
|
rs745914221
|
|
NM_003977.4(AIP):c.839A>G (p.Asn280Ser)
|
|
|
NM_003977.4(AIP):c.844dup (p.Gln282fs)
|
|
|
NM_003977.4(AIP):c.845A>G (p.Gln282Arg)
|
rs2134256527
|
|
NM_003977.4(AIP):c.849G>A (p.Glu283=)
|
rs2134256534
|
|
NM_003977.4(AIP):c.850G>A (p.Ala284Thr)
|
rs1240656692
|
|
NM_003977.4(AIP):c.851C>G (p.Ala284Gly)
|
rs2134256543
|
|
NM_003977.4(AIP):c.851C>T (p.Ala284Val)
|
rs2134256543
|
|
NM_003977.4(AIP):c.852C>T (p.Ala284=)
|
|
|
NM_003977.4(AIP):c.854_857del (p.Gln285fs)
|
rs267606582
|
|
NM_003977.4(AIP):c.855G>C (p.Gln285His)
|
rs1591047322
|
|
NM_003977.4(AIP):c.856G>A (p.Ala286Thr)
|
rs1344254895
|
|
NM_003977.4(AIP):c.857C>T (p.Ala286Val)
|
rs775673977
|
|
NM_003977.4(AIP):c.858T>C (p.Ala286=)
|
|
|
NM_003977.4(AIP):c.85C>A (p.Gln29Lys)
|
|
|
NM_003977.4(AIP):c.85C>G (p.Gln29Glu)
|
|
|
NM_003977.4(AIP):c.85C>T (p.Gln29Ter)
|
rs969013352
|
|
NM_003977.4(AIP):c.864T>C (p.Phe288=)
|
|
|
NM_003977.4(AIP):c.865G>A (p.Ala289Thr)
|
rs1591047341
|
|
NM_003977.4(AIP):c.866C>T (p.Ala289Val)
|
|
|
NM_003977.4(AIP):c.869A>G (p.Lys290Arg)
|
|
|
NM_003977.4(AIP):c.874del (p.Leu292fs)
|
|
|
NM_003977.4(AIP):c.879G>T (p.Glu293Asp)
|
|
|
NM_003977.4(AIP):c.87A>G (p.Gln29=)
|
|
|
NM_003977.4(AIP):c.880C>A (p.Leu294Met)
|
|
|
NM_003977.4(AIP):c.884_889del (p.Asp295_Pro296del)
|
|
|
NM_003977.4(AIP):c.885C>A (p.Asp295Glu)
|
|
|
NM_003977.4(AIP):c.885C>G (p.Asp295Glu)
|
rs1384518387
|
|
NM_003977.4(AIP):c.886C>G (p.Pro296Ala)
|
rs1038039525
|
|
NM_003977.4(AIP):c.886C>T (p.Pro296Ser)
|
rs1038039525
|
|
NM_003977.4(AIP):c.887C>A (p.Pro296Gln)
|
|
|
NM_003977.4(AIP):c.887C>T (p.Pro296Leu)
|
|
|
NM_003977.4(AIP):c.889G>A (p.Ala297Thr)
|
|
|
NM_003977.4(AIP):c.88G>A (p.Asp30Asn)
|
|
|
NM_003977.4(AIP):c.891C>T (p.Ala297=)
|
rs35665586
|
|
NM_003977.4(AIP):c.893T>C (p.Leu298Pro)
|
rs2134256667
|
|
NM_003977.4(AIP):c.895G>A (p.Ala299Thr)
|
|
|
NM_003977.4(AIP):c.898C>T (p.Pro300Ser)
|
|
|
NM_003977.4(AIP):c.899C>T (p.Pro300Leu)
|
rs2134256678
|
|
NM_003977.4(AIP):c.89A>G (p.Asp30Gly)
|
rs2134247808
|
|
NM_003977.4(AIP):c.901G>A (p.Val301Met)
|
|
|
NM_003977.4(AIP):c.903G>A (p.Val301=)
|
|
|
NM_003977.4(AIP):c.903G>T (p.Val301=)
|
rs554226457
|
|
NM_003977.4(AIP):c.905T>C (p.Val302Ala)
|
|
|
NM_003977.4(AIP):c.917T>C (p.Leu306Pro)
|
|
|
NM_003977.4(AIP):c.919C>A (p.Arg307=)
|
|
|
NM_003977.4(AIP):c.919C>G (p.Arg307Gly)
|
|
|
NM_003977.4(AIP):c.919dup (p.Arg307fs)
|
rs267606589
|
|
NM_003977.4(AIP):c.91G>C (p.Gly31Arg)
|
rs2134247816
|
|
NM_003977.4(AIP):c.920G>C (p.Arg307Pro)
|
|
|
NM_003977.4(AIP):c.921G>A (p.Arg307=)
|
|
|
NM_003977.4(AIP):c.921G>C (p.Arg307=)
|
|
|
NM_003977.4(AIP):c.921G>T (p.Arg307=)
|
|
|
NM_003977.4(AIP):c.922G>A (p.Ala308Thr)
|
|
|
NM_003977.4(AIP):c.924C>G (p.Ala308=)
|
|
|
NM_003977.4(AIP):c.925C>G (p.Leu309Val)
|
|
|
NM_003977.4(AIP):c.926T>C (p.Leu309Pro)
|
|
|
NM_003977.4(AIP):c.928G>T (p.Glu310Ter)
|
|
|
NM_003977.4(AIP):c.929A>G (p.Glu310Gly)
|
|
|
NM_003977.4(AIP):c.92G>C (p.Gly31Ala)
|
rs756887504
|
|
NM_003977.4(AIP):c.933A>C (p.Ala311=)
|
|
|
NM_003977.4(AIP):c.933A>G (p.Ala311=)
|
rs1865897525
|
|
NM_003977.4(AIP):c.933A>T (p.Ala311=)
|
|
|
NM_003977.4(AIP):c.934C>A (p.Arg312=)
|
|
|
NM_003977.4(AIP):c.936G>A (p.Arg312=)
|
rs1377925060
|
|
NM_003977.4(AIP):c.936G>C (p.Arg312=)
|
|
|
NM_003977.4(AIP):c.939C>G (p.Ile313Met)
|
|
|
NM_003977.4(AIP):c.93G>A (p.Gly31=)
|
rs371636632
|
|
NM_003977.4(AIP):c.941G>C (p.Arg314Pro)
|
|
|
NM_003977.4(AIP):c.945G>A (p.Gln315=)
|
|
|
NM_003977.4(AIP):c.946_948del (p.Lys316del)
|
rs766251663
|
|
NM_003977.4(AIP):c.948G>A (p.Lys316=)
|
|
|
NM_003977.4(AIP):c.949G>C (p.Asp317His)
|
|
|
NM_003977.4(AIP):c.949G>T (p.Asp317Tyr)
|
rs145025838
|
|
NM_003977.4(AIP):c.950A>G (p.Asp317Gly)
|
|
|
NM_003977.4(AIP):c.951C>T (p.Asp317=)
|
rs138814192
|
|
NM_003977.4(AIP):c.953A>T (p.Glu318Val)
|
rs1865898395
|
|
NM_003977.4(AIP):c.954A>G (p.Glu318=)
|
|
|
NM_003977.4(AIP):c.958G>A (p.Asp320Asn)
|
|
|
NM_003977.4(AIP):c.958G>T (p.Asp320Tyr)
|
|
|
NM_003977.4(AIP):c.95C>A (p.Thr32Asn)
|
|
|
NM_003977.4(AIP):c.95C>G (p.Thr32Ser)
|
|
|
NM_003977.4(AIP):c.95C>T (p.Thr32Ile)
|
|
|
NM_003977.4(AIP):c.961A>G (p.Lys321Glu)
|
rs1865898492
|
|
NM_003977.4(AIP):c.963A>G (p.Lys321=)
|
rs1390104426
|
|
NM_003977.4(AIP):c.963A>T (p.Lys321Asn)
|
rs1390104426
|
|
NM_003977.4(AIP):c.964G>A (p.Ala322Thr)
|
rs768053422
|
|
NM_003977.4(AIP):c.966C>A (p.Ala322=)
|
rs1225769221
|
|
NM_003977.4(AIP):c.966C>T (p.Ala322=)
|
|
|
NM_003977.4(AIP):c.967C>G (p.Arg323Gly)
|
rs188965257
|
|
NM_003977.4(AIP):c.968G>A (p.Arg323Gln)
|
rs2134256899
|
|
NM_003977.4(AIP):c.968G>T (p.Arg323Leu)
|
|
|
NM_003977.4(AIP):c.96C>T (p.Thr32=)
|
rs2134247827
|
|
NM_003977.4(AIP):c.971T>G (p.Phe324Cys)
|
|
|
NM_003977.4(AIP):c.972C>T (p.Phe324=)
|
rs2134256915
|
|
NM_003977.4(AIP):c.973C>A (p.Arg325=)
|
rs765927395
|
|
NM_003977.4(AIP):c.974G>C (p.Arg325Pro)
|
rs754619109
|
|
NM_003977.4(AIP):c.975G>T (p.Arg325=)
|
|
|
NM_003977.4(AIP):c.976_977insC (p.Gly326fs)
|
rs2134256942
|
|
NM_003977.4(AIP):c.978G>A (p.Gly326=)
|
|
|
NM_003977.4(AIP):c.979A>T (p.Ile327Phe)
|
rs1591047599
|
|
NM_003977.4(AIP):c.980TCT[1] (p.Phe328del)
|
|
|
NM_003977.4(AIP):c.981C>T (p.Ile327=)
|
|
|
NM_003977.4(AIP):c.984C>T (p.Phe328=)
|
rs2134256960
|
|
NM_003977.4(AIP):c.987C>T (p.Ser329=)
|
rs267606587
|
|
NM_003977.4(AIP):c.988C>T (p.His330Tyr)
|
|
|
NM_003977.4(AIP):c.989A>G (p.His330Arg)
|
|
|
NM_003977.4(AIP):c.98A>C (p.Lys33Thr)
|
|
|
NM_003977.4(AIP):c.98A>G (p.Lys33Arg)
|
|
|
NM_003977.4(AIP):c.99+10T>C
|
rs187051018
|
|
NM_003977.4(AIP):c.99+13C>G
|
|
|
NM_003977.4(AIP):c.99+13C>T
|
rs747079315
|
|
NM_003977.4(AIP):c.99+16_99+20del
|
rs747813691
|
|
NM_003977.4(AIP):c.99+4C>T
|
rs2134247837
|
|
NM_003977.4(AIP):c.99+5G>A
|
|
|
NM_003977.4(AIP):c.99+7G>A
|
|
|
NM_003977.4(AIP):c.99+8T>C
|
|
|
NM_003977.4(AIP):c.99+8_99+9insGTACC
|
|
|
NM_003977.4(AIP):c.99+9C>G
|
|
|
NM_003977.4(AIP):c.99+9C>T
|
|
|
NM_003977.4(AIP):c.99G>A (p.Lys33=)
|
rs755881873
|
|
NM_003977.4(AIP):c.9T>C (p.Asp3=)
|
|
|