NM_001164508.2(NEB):c.13353C>T (p.Ala4451=)
|
rs774726264
|
0.33333
|
NM_001164508.2(NEB):c.11077-4G>T
|
rs878924060
|
0.11336
|
NM_001164508.2(NEB):c.16450G>A (p.Ala5484Thr)
|
rs536508687
|
0.08083
|
NM_001164508.2(NEB):c.13534G>A (p.Ala4512Thr)
|
rs886038435
|
0.07143
|
NM_001164508.2(NEB):c.20467-4T>A
|
rs199791504
|
0.04348
|
NM_001164508.2(NEB):c.16284+11A>G
|
rs367881797
|
0.03368
|
NM_001164508.2(NEB):c.19102-6C>T
|
rs145127681
|
0.03008
|
NM_001164508.2(NEB):c.4407G>C (p.Glu1469Asp)
|
rs34800215
|
0.02813
|
NM_001164508.2(NEB):c.19732-6C>T
|
rs11894996
|
0.02589
|
NM_001164508.2(NEB):c.612+8T>C
|
rs113095802
|
0.02379
|
NM_001164508.2(NEB):c.8466C>T (p.His2822=)
|
rs61730771
|
0.02236
|
NM_001164508.2(NEB):c.7310G>A (p.Arg2437Gln)
|
rs61730780
|
0.02113
|
NM_001164508.2(NEB):c.16021T>C (p.Leu5341=)
|
rs796103760
|
0.02016
|
NM_001164508.2(NEB):c.571G>C (p.Glu191Gln)
|
rs35686968
|
0.01624
|
NM_001164508.2(NEB):c.15821A>T (p.Asn5274Ile)
|
rs45612241
|
0.01414
|
NM_001164508.2(NEB):c.11148G>C (p.Met3716Ile)
|
rs149025191
|
0.01369
|
NM_001164508.2(NEB):c.6717T>G (p.Ile2239Met)
|
rs78733601
|
0.01102
|
NM_001164508.2(NEB):c.5567G>A (p.Arg1856Gln)
|
rs141930814
|
0.01071
|
NM_001164508.2(NEB):c.10347+6C>T
|
rs141088433
|
0.00870
|
NM_001164508.2(NEB):c.16669A>G (p.Ile5557Val)
|
rs113439353
|
0.00852
|
NM_001164508.2(NEB):c.20078C>T (p.Thr6693Ile)
|
rs35707762
|
0.00734
|
NM_001164508.2(NEB):c.3191A>G (p.Tyr1064Cys)
|
rs187343008
|
0.00681
|
NM_001164508.2(NEB):c.6069G>A (p.Met2023Ile)
|
rs184262608
|
0.00672
|
NM_001164508.2(NEB):c.9865G>A (p.Gly3289Ser)
|
rs75639119
|
0.00460
|
NM_001164508.2(NEB):c.18693G>C (p.Ala6231=)
|
rs141338915
|
0.00448
|
NM_001164508.2(NEB):c.12667G>A (p.Ala4223Thr)
|
rs12998234
|
0.00437
|
NM_001164508.2(NEB):c.5555T>G (p.Met1852Arg)
|
rs144180493
|
0.00336
|
NM_001164508.2(NEB):c.3636C>T (p.Asp1212=)
|
rs144376972
|
0.00333
|
NM_001164508.2(NEB):c.3826C>A (p.Pro1276Thr)
|
rs34234609
|
0.00327
|
NM_001164508.2(NEB):c.5968G>A (p.Glu1990Lys)
|
rs146310692
|
0.00320
|
NM_001164508.2(NEB):c.4649A>G (p.Lys1550Arg)
|
rs114089598
|
0.00312
|
NM_001164508.2(NEB):c.7514C>A (p.Ala2505Glu)
|
rs35292878
|
0.00292
|
NM_001164508.2(NEB):c.14807A>G (p.Asn4936Ser)
|
rs139930220
|
0.00289
|
NM_001164508.2(NEB):c.18861C>T (p.Arg6287=)
|
rs146294986
|
0.00286
|
NM_001164508.2(NEB):c.13081G>A (p.Glu4361Lys)
|
rs202017360
|
0.00261
|
NM_001164508.2(NEB):c.19944+3G>A
|
rs115142419
|
0.00250
|
NM_001164508.2(NEB):c.4980C>T (p.Pro1660=)
|
rs142074817
|
0.00242
|
NM_001164508.2(NEB):c.9155G>A (p.Arg3052Gln)
|
rs201176993
|
0.00238
|
NM_001164508.2(NEB):c.18653G>A (p.Gly6218Asp)
|
rs34471889
|
0.00237
|
NM_001164508.2(NEB):c.4272G>C (p.Thr1424=)
|
rs35654397
|
0.00236
|
NM_001164508.2(NEB):c.14811T>C (p.Ala4937=)
|
rs71415153
|
0.00233
|
NM_001164508.2(NEB):c.6615C>G (p.Arg2205=)
|
rs200018782
|
0.00226
|
NM_001164508.2(NEB):c.675G>A (p.Pro225=)
|
rs138528093
|
0.00225
|
NM_001164508.2(NEB):c.13779A>G (p.Leu4593=)
|
rs1057522591
|
0.00209
|
NM_001164508.2(NEB):c.16192G>A (p.Asp5398Asn)
|
rs750810441
|
0.00204
|
NM_001164508.2(NEB):c.3593A>G (p.Asn1198Ser)
|
rs146616621
|
0.00200
|
NM_001164508.2(NEB):c.17497G>A (p.Val5833Ile)
|
rs149881695
|
0.00187
|
NM_001164508.2(NEB):c.18579+6T>C
|
rs116189169
|
0.00180
|
NM_001164508.2(NEB):c.4466G>A (p.Gly1489Asp)
|
rs74482326
|
0.00166
|
NM_001164508.2(NEB):c.4206T>A (p.Asn1402Lys)
|
rs201169452
|
0.00165
|
NM_001164508.2(NEB):c.3639C>T (p.Val1213=)
|
rs74320183
|
0.00164
|
NM_001164508.2(NEB):c.18464A>C (p.Tyr6155Ser)
|
rs201971223
|
0.00162
|
NM_001164508.2(NEB):c.9071C>T (p.Ala3024Val)
|
rs143933602
|
0.00162
|
NM_001164508.2(NEB):c.9181A>T (p.Met3061Leu)
|
rs143473183
|
0.00158
|
NM_001164508.2(NEB):c.19377C>T (p.Asp6459=)
|
rs187211085
|
0.00156
|
NM_001164508.2(NEB):c.8072G>A (p.Arg2691His)
|
rs35555631
|
0.00156
|
NM_001164508.2(NEB):c.19836+10C>G
|
rs148814261
|
0.00148
|
NM_001164508.2(NEB):c.12770G>A (p.Arg4257His)
|
rs576918934
|
0.00147
|
NM_001164508.2(NEB):c.7126G>C (p.Val2376Leu)
|
rs141155976
|
0.00142
|
NM_001164508.2(NEB):c.19665T>C (p.Ile6555=)
|
rs150842230
|
0.00138
|
NM_001164508.2(NEB):c.3623T>C (p.Ile1208Thr)
|
rs201141958
|
0.00137
|
NM_001164508.2(NEB):c.19746T>C (p.Ala6582=)
|
rs143456239
|
0.00136
|
NM_001164508.2(NEB):c.1206C>T (p.Cys402=)
|
rs199695976
|
0.00134
|
NM_001164508.2(NEB):c.2510A>G (p.Lys837Arg)
|
rs189623595
|
0.00125
|
NM_001164508.2(NEB):c.9072G>A (p.Ala3024=)
|
rs369897667
|
0.00125
|
NM_001164508.2(NEB):c.17510A>G (p.Lys5837Arg)
|
rs201962649
|
0.00114
|
NM_001164508.2(NEB):c.177G>A (p.Gln59=)
|
rs200990309
|
0.00112
|
NM_001164508.2(NEB):c.5747T>C (p.Met1916Thr)
|
rs142540692
|
0.00111
|
NM_001164508.2(NEB):c.16569G>A (p.Val5523=)
|
rs764449277
|
0.00109
|
NM_001164508.2(NEB):c.10269G>A (p.Pro3423=)
|
rs368719373
|
0.00108
|
NM_001164508.2(NEB):c.2604G>T (p.Leu868=)
|
rs201698008
|
0.00108
|
NM_001164508.2(NEB):c.4834C>T (p.Arg1612Cys)
|
rs200545007
|
0.00108
|
NM_001164508.2(NEB):c.13078C>G (p.Leu4360Val)
|
rs761799512
|
0.00107
|
NM_001164508.2(NEB):c.6808-11T>C
|
rs199804593
|
0.00106
|
NM_001164508.2(NEB):c.8719G>A (p.Gly2907Ser)
|
rs201707021
|
0.00106
|
NM_001164508.2(NEB):c.18262-13C>T
|
rs374553944
|
0.00102
|
NM_001164508.2(NEB):c.8643C>T (p.Ser2881=)
|
rs150135749
|
0.00100
|
NM_001164508.2(NEB):c.3801T>C (p.Asp1267=)
|
rs182725059
|
0.00096
|
NM_001164508.2(NEB):c.9315C>A (p.Val3105=)
|
rs371174518
|
0.00096
|
NM_001164508.2(NEB):c.3986A>C (p.Asp1329Ala)
|
rs115986826
|
0.00095
|
NM_001164508.2(NEB):c.16637G>A (p.Arg5546His)
|
rs201111610
|
0.00092
|
NM_001164508.2(NEB):c.9354A>G (p.Thr3118=)
|
rs187637065
|
0.00089
|
NM_001164508.2(NEB):c.2603T>C (p.Leu868Pro)
|
rs143123053
|
0.00083
|
NM_001164508.2(NEB):c.19219G>A (p.Glu6407Lys)
|
rs144539316
|
0.00078
|
NM_001164508.2(NEB):c.1258-7C>G
|
rs371265681
|
0.00077
|
NM_001164508.2(NEB):c.7581C>T (p.Tyr2527=)
|
rs200425929
|
0.00075
|
NM_001164508.2(NEB):c.14914T>A (p.Ser4972Thr)
|
rs776187492
|
0.00071
|
NM_001164508.2(NEB):c.4720-18C>T
|
rs79402065
|
0.00071
|
NM_001164508.2(NEB):c.20128G>A (p.Val6710Ile)
|
rs199890298
|
0.00069
|
NM_001164508.2(NEB):c.8978A>G (p.Lys2993Arg)
|
rs138217855
|
0.00066
|
NM_001164508.2(NEB):c.6088C>T (p.Leu2030Phe)
|
rs200251444
|
0.00063
|
NM_001164508.2(NEB):c.18431A>G (p.His6144Arg)
|
rs34504204
|
0.00061
|
NM_001164508.2(NEB):c.20671C>T (p.Leu6891Phe)
|
rs182866658
|
0.00061
|
NM_001164508.2(NEB):c.14266C>A (p.Gln4756Lys)
|
rs755875238
|
0.00054
|
NM_001164508.2(NEB):c.984C>T (p.Thr328=)
|
rs199969138
|
0.00052
|
NM_001164508.2(NEB):c.10201T>A (p.Ser3401Thr)
|
rs199847072
|
0.00049
|
NM_001164508.2(NEB):c.20032C>T (p.Arg6678Cys)
|
rs200239095
|
0.00049
|
NM_001164508.2(NEB):c.3255C>T (p.Asp1085=)
|
rs368625295
|
0.00048
|
NM_001164508.2(NEB):c.12905A>T (p.Asn4302Ile)
|
rs886038429
|
0.00046
|
NM_001164508.2(NEB):c.1974T>C (p.Asp658=)
|
rs199528953
|
0.00046
|
NM_001164508.2(NEB):c.11067C>T (p.Asn3689=)
|
rs200427401
|
0.00044
|
NM_001164508.2(NEB):c.18891+17G>A
|
rs376129412
|
0.00044
|
NM_001164508.2(NEB):c.8801G>A (p.Arg2934His)
|
rs200307392
|
0.00039
|
NM_001164508.2(NEB):c.13175G>A (p.Arg4392His)
|
rs772352938
|
0.00038
|
NM_001164508.2(NEB):c.20466+7G>A
|
rs201684605
|
0.00035
|
NM_001164508.2(NEB):c.5712T>C (p.Pro1904=)
|
rs35946547
|
0.00034
|
NM_001164508.2(NEB):c.8125G>A (p.Val2709Ile)
|
rs368637389
|
0.00033
|
NM_001164508.2(NEB):c.6278T>C (p.Val2093Ala)
|
rs147476634
|
0.00032
|
NM_001164508.2(NEB):c.6817A>G (p.Lys2273Glu)
|
rs199700878
|
0.00031
|
NM_001164508.2(NEB):c.20098C>A (p.Leu6700Ile)
|
rs202139330
|
0.00029
|
NM_001164508.2(NEB):c.20162T>C (p.Leu6721Pro)
|
rs111517514
|
0.00029
|
NM_001164508.2(NEB):c.15827C>T (p.Pro5276Leu)
|
rs1057521772
|
0.00028
|
NM_001164508.2(NEB):c.12966C>T (p.Asp4322=)
|
rs1334385911
|
0.00026
|
NM_001164508.2(NEB):c.3637G>A (p.Val1213Ile)
|
rs202124287
|
0.00024
|
NM_001164508.2(NEB):c.1899A>T (p.Arg633Ser)
|
rs77826191
|
0.00023
|
NM_001164508.2(NEB):c.2343G>A (p.Lys781=)
|
rs191610670
|
0.00023
|
NM_001164508.2(NEB):c.5181C>T (p.Tyr1727=)
|
rs35016946
|
0.00023
|
NM_001164508.2(NEB):c.17845-5G>A
|
rs373390654
|
0.00022
|
NM_001164508.2(NEB):c.3443C>T (p.Ala1148Val)
|
rs200637566
|
0.00022
|
NM_001164508.2(NEB):c.4398A>G (p.Ala1466=)
|
rs368136951
|
0.00022
|
NM_001164508.2(NEB):c.19675G>A (p.Val6559Ile)
|
rs189232206
|
0.00021
|
NM_001164508.2(NEB):c.10608C>T (p.Gly3536=)
|
rs144673752
|
0.00020
|
NM_001164508.2(NEB):c.9352A>T (p.Thr3118Ser)
|
rs543100735
|
0.00018
|
NM_001164508.2(NEB):c.20355C>T (p.Asp6785=)
|
rs140323673
|
0.00017
|
NM_001164508.2(NEB):c.8490G>A (p.Arg2830=)
|
rs368217121
|
0.00016
|
NM_001164508.2(NEB):c.10347+18A>G
|
rs200915591
|
0.00015
|
NM_001164508.2(NEB):c.21173C>T (p.Thr7058Ile)
|
rs200523155
|
0.00015
|
NM_001164508.2(NEB):c.11971G>A (p.Ala3991Thr)
|
rs368328716
|
0.00014
|
NM_001164508.2(NEB):c.16269C>T (p.Ala5423=)
|
rs542916866
|
0.00014
|
NM_001164508.2(NEB):c.539A>G (p.Lys180Arg)
|
rs200719359
|
0.00014
|
NM_001164508.2(NEB):c.7342C>T (p.Arg2448Cys)
|
rs576076237
|
0.00014
|
NM_001164508.2(NEB):c.1119G>A (p.Arg373=)
|
rs200914626
|
0.00013
|
NM_001164508.2(NEB):c.1550A>G (p.Asn517Ser)
|
rs199710125
|
0.00013
|
NM_001164508.2(NEB):c.9195C>T (p.His3065=)
|
rs374734631
|
0.00013
|
NM_001164508.2(NEB):c.15715C>T (p.Arg5239Cys)
|
rs1346076883
|
0.00012
|
NM_001164508.2(NEB):c.293C>T (p.Pro98Leu)
|
rs201473194
|
0.00012
|
NM_001164508.2(NEB):c.13661G>A (p.Ser4554Asn)
|
rs1057522021
|
0.00011
|
NM_001164508.2(NEB):c.6175G>A (p.Ala2059Thr)
|
rs369215974
|
0.00011
|
NM_001164508.2(NEB):c.2573C>T (p.Ala858Val)
|
rs372217127
|
0.00010
|
NM_001164508.2(NEB):c.5967C>T (p.Asn1989=)
|
rs371151246
|
0.00010
|
NM_001164508.2(NEB):c.6369G>A (p.Thr2123=)
|
rs540542570
|
0.00010
|
NM_001164508.2(NEB):c.11559T>C (p.Asn3853=)
|
rs369429046
|
0.00009
|
NM_001164508.2(NEB):c.13204A>G (p.Ser4402Gly)
|
rs1475846023
|
0.00009
|
NM_001164508.2(NEB):c.18870C>T (p.Asn6290=)
|
rs200122580
|
0.00009
|
NM_001164508.2(NEB):c.9345C>T (p.His3115=)
|
rs367739638
|
0.00009
|
NM_001164508.2(NEB):c.12511G>A (p.Ala4171Thr)
|
rs1420479305
|
0.00008
|
NM_001164508.2(NEB):c.355A>G (p.Thr119Ala)
|
rs182207224
|
0.00008
|
NM_001164508.2(NEB):c.3918G>A (p.Lys1306=)
|
rs368682145
|
0.00008
|
NM_001164508.2(NEB):c.5724C>T (p.Ser1908=)
|
rs370965998
|
0.00008
|
NM_001164508.2(NEB):c.20245C>A (p.Gln6749Lys)
|
rs772854423
|
0.00007
|
NM_001164508.2(NEB):c.5565C>A (p.Asp1855Glu)
|
rs200468391
|
0.00007
|
NM_001164508.2(NEB):c.10233T>C (p.Ala3411=)
|
rs727504033
|
0.00006
|
NM_001164508.2(NEB):c.10299C>G (p.Asp3433Glu)
|
rs180847025
|
0.00006
|
NM_001164508.2(NEB):c.11199T>C (p.Ala3733=)
|
rs756871030
|
0.00006
|
NM_001164508.2(NEB):c.1152C>T (p.Asp384=)
|
rs767328072
|
0.00006
|
NM_001164508.2(NEB):c.11850C>T (p.His3950=)
|
rs777244382
|
0.00006
|
NM_001164508.2(NEB):c.18694-7A>T
|
rs373371474
|
0.00006
|
NM_001164508.2(NEB):c.19674C>T (p.Tyr6558=)
|
rs201515651
|
0.00006
|
NM_001164508.2(NEB):c.8063A>G (p.His2688Arg)
|
rs201119402
|
0.00006
|
NM_001164508.2(NEB):c.9468T>C (p.Ile3156=)
|
rs751747575
|
0.00006
|
NM_001164508.2(NEB):c.11025G>A (p.Thr3675=)
|
rs199789085
|
0.00005
|
NM_001164508.2(NEB):c.19315-4A>G
|
rs778306769
|
0.00005
|
NM_001164508.2(NEB):c.2739C>T (p.Ser913=)
|
rs185674525
|
0.00005
|
NM_001164508.2(NEB):c.4748C>T (p.Ala1583Val)
|
rs761956085
|
0.00005
|
NM_001164508.2(NEB):c.6488A>G (p.Gln2163Arg)
|
rs200813844
|
0.00005
|
NM_001164508.2(NEB):c.14228G>A (p.Arg4743His)
|
rs527746468
|
0.00004
|
NM_001164508.2(NEB):c.17496C>T (p.Ser5832=)
|
rs746291431
|
0.00004
|
NM_001164508.2(NEB):c.6513T>C (p.Asp2171=)
|
rs376535906
|
0.00004
|
NM_001164508.2(NEB):c.7582G>A (p.Asp2528Asn)
|
rs369496057
|
0.00004
|
NM_001164508.2(NEB):c.17922G>T (p.Leu5974=)
|
rs1327308371
|
0.00003
|
NM_001164508.2(NEB):c.18786C>T (p.Tyr6262=)
|
rs374874999
|
0.00003
|
NM_001164508.2(NEB):c.20847G>A (p.Thr6949=)
|
rs759425229
|
0.00003
|
NM_001164508.2(NEB):c.8733G>A (p.Val2911=)
|
rs1332714141
|
0.00003
|
NM_001164508.2(NEB):c.14755G>C (p.Ala4919Pro)
|
rs1057523555
|
0.00002
|
NM_001164508.2(NEB):c.21266C>G (p.Ser7089Cys)
|
rs774297352
|
0.00002
|
NM_001164508.2(NEB):c.3759G>A (p.Thr1253=)
|
rs763075598
|
0.00002
|
NM_001164508.2(NEB):c.4283A>G (p.Asn1428Ser)
|
rs565184120
|
0.00002
|
NM_001164508.2(NEB):c.4548T>C (p.Tyr1516=)
|
rs748479655
|
0.00002
|
NM_001164508.2(NEB):c.5868T>C (p.Ser1956=)
|
rs374717947
|
0.00002
|
NM_001164508.2(NEB):c.6687A>G (p.Ala2229=)
|
rs747606446
|
0.00002
|
NM_001164508.2(NEB):c.9480T>C (p.Asp3160=)
|
rs1475280445
|
0.00002
|
NM_001164508.2(NEB):c.12330T>C (p.Asp4110=)
|
rs981354598
|
0.00001
|
NM_001164508.2(NEB):c.17229T>C (p.Asn5743=)
|
rs1304618869
|
0.00001
|
NM_001164508.2(NEB):c.17478G>A (p.Met5826Ile)
|
rs1298196178
|
0.00001
|
NM_001164508.2(NEB):c.17536-17T>C
|
rs775687645
|
0.00001
|
NM_001164508.2(NEB):c.203G>A (p.Arg68Lys)
|
rs1014627144
|
0.00001
|
NM_001164508.2(NEB):c.2979T>C (p.Phe993=)
|
rs780408206
|
0.00001
|
NM_001164508.2(NEB):c.3519C>T (p.Asp1173=)
|
rs376512820
|
0.00001
|
NM_001164508.2(NEB):c.4060A>G (p.Lys1354Glu)
|
rs371454282
|
0.00001
|
NM_001164508.2(NEB):c.453T>C (p.Asp151=)
|
rs759482454
|
0.00001
|
NM_001164508.2(NEB):c.7209T>A (p.Val2403=)
|
rs778083630
|
0.00001
|
NM_001164508.2(NEB):c.781G>C (p.Asp261His)
|
rs1167204757
|
0.00001
|
NM_001164508.2(NEB):c.8775T>C (p.Thr2925=)
|
rs761257246
|
0.00001
|
GRCh37/hg19 2q23.3(chr2:152439969-152440280)x0
|
|
|
NM_001164508.2(NEB):c.-128T>G
|
rs771789347
|
|
NM_001164508.2(NEB):c.11077-20dup
|
rs749915004
|
|
NM_001164508.2(NEB):c.11077-5del
|
rs749915004
|
|
NM_001164508.2(NEB):c.12382G>A (p.Glu4128Lys)
|
rs1553877949
|
|
NM_001164508.2(NEB):c.12483C>T (p.Val4161=)
|
rs876657539
|
|
NM_001164508.2(NEB):c.12497T>C (p.Val4166Ala)
|
rs1579059166
|
|
NM_001164508.2(NEB):c.12529A>T (p.Ser4177Cys)
|
rs1553877493
|
|
NM_001164508.2(NEB):c.12682T>A (p.Tyr4228Asn)
|
|
|
NM_001164508.2(NEB):c.12808C>A (p.Gln4270Lys)
|
rs1057524648
|
|
NM_001164508.2(NEB):c.12855G>A (p.Gln4285=)
|
rs1578941195
|
|
NM_001164508.2(NEB):c.12912G>A (p.Pro4304=)
|
rs886038430
|
|
NM_001164508.2(NEB):c.13056C>A (p.Ser4352Arg)
|
rs1468240932
|
|
NM_001164508.2(NEB):c.13107G>A (p.Leu4369=)
|
rs1310978096
|
|
NM_001164508.2(NEB):c.13230C>T (p.Ile4410=)
|
rs1488837816
|
|
NM_001164508.2(NEB):c.13276G>A (p.Asp4426Asn)
|
rs876657540
|
|
NM_001164508.2(NEB):c.13368+6A>G
|
rs886038433
|
|
NM_001164508.2(NEB):c.13370A>C (p.Lys4457Thr)
|
rs1057521174
|
|
NM_001164508.2(NEB):c.13466T>C (p.Ile4489Thr)
|
rs1433188091
|
|
NM_001164508.2(NEB):c.13476C>T (p.Asp4492=)
|
rs876657541
|
|
NM_001164508.2(NEB):c.13533C>T (p.Ser4511=)
|
rs1168966918
|
|
NM_001164508.2(NEB):c.13615G>A (p.Asp4539Asn)
|
rs1578802735
|
|
NM_001164508.2(NEB):c.13647C>G (p.Asp4549Glu)
|
rs2153903057
|
|
NM_001164508.2(NEB):c.13680G>C (p.Gln4560His)
|
rs886038439
|
|
NM_001164508.2(NEB):c.13706G>A (p.Arg4569His)
|
rs1216367965
|
|
NM_001164508.2(NEB):c.13721A>G (p.His4574Arg)
|
rs876657542
|
|
NM_001164508.2(NEB):c.13788+18G>A
|
rs1057523329
|
|
NM_001164508.2(NEB):c.13820G>A (p.Arg4607His)
|
rs1553861849
|
|
NM_001164508.2(NEB):c.13840G>A (p.Glu4614Lys)
|
rs1553861834
|
|
NM_001164508.2(NEB):c.13941C>T (p.Val4647=)
|
rs886038441
|
|
NM_001164508.2(NEB):c.13955T>C (p.Val4652Ala)
|
rs1578797641
|
|
NM_001164508.2(NEB):c.13987A>T (p.Ser4663Cys)
|
rs1057521768
|
|
NM_001164508.2(NEB):c.14049T>C (p.Asp4683=)
|
rs1057521906
|
|
NM_001164508.2(NEB):c.14094C>T (p.Ser4698=)
|
rs1578796157
|
|
NM_001164508.2(NEB):c.14363A>T (p.Asn4788Ile)
|
rs1279733088
|
|
NM_001164508.2(NEB):c.14370G>A (p.Pro4790=)
|
rs747837704
|
|
NM_001164508.2(NEB):c.14505C>T (p.Asp4835=)
|
|
|
NM_001164508.2(NEB):c.14514C>A (p.Ser4838Arg)
|
rs1057522066
|
|
NM_001164508.2(NEB):c.14563T>C (p.Leu4855=)
|
rs2288217
|
|
NM_001164508.2(NEB):c.14662A>G (p.Ser4888Gly)
|
rs1553854474
|
|
NM_001164508.2(NEB):c.14827-14CT[2]
|
rs536426422
|
|
NM_001164508.2(NEB):c.14986C>T (p.Arg4996Cys)
|
rs1553848018
|
|
NM_001164508.2(NEB):c.14991C>T (p.Ser4997=)
|
rs2153840996
|
|
NM_001164508.2(NEB):c.14992G>A (p.Ala4998Thr)
|
rs1057520912
|
|
NM_001164508.2(NEB):c.15073G>A (p.Asp5025Asn)
|
rs1578587703
|
|
NM_001164508.2(NEB):c.15086A>C (p.Lys5029Thr)
|
rs200053313
|
|
NM_001164508.2(NEB):c.15105C>G (p.Asp5035Glu)
|
rs1553847946
|
|
NM_001164508.2(NEB):c.15119G>A (p.Ser5040Asn)
|
rs1578587235
|
|
NM_001164508.2(NEB):c.15179A>G (p.His5060Arg)
|
rs886038444
|
|
NM_001164508.2(NEB):c.15237A>G (p.Leu5079=)
|
rs1057522592
|
|
NM_001164508.2(NEB):c.15246+18G>A
|
rs1553847838
|
|
NM_001164508.2(NEB):c.15278G>A (p.Arg5093His)
|
rs1553847671
|
|
NM_001164508.2(NEB):c.15298G>A (p.Glu5100Lys)
|
rs1578582389
|
|
NM_001164508.2(NEB):c.153_167dup (p.52LAQPA[3])
|
rs757726895
|
|
NM_001164508.2(NEB):c.15413T>C (p.Val5138Ala)
|
rs1578581705
|
|
NM_001164508.2(NEB):c.154CTGGCACAGCCAGCA[1] (p.52LAQPA[1])
|
rs377452683
|
|
NM_001164508.2(NEB):c.154CTGGCACAGCCAGCA[3] (p.52LAQPA[3])
|
rs377452683
|
|
NM_001164508.2(NEB):c.15507T>C (p.Asp5169=)
|
rs2153837860
|
|
NM_001164508.2(NEB):c.15512C>T (p.Pro5171Leu)
|
rs1553847475
|
|
NM_001164508.2(NEB):c.15686G>A (p.Arg5229His)
|
rs1269112104
|
|
NM_001164508.2(NEB):c.15934G>A (p.Asp5312Asn)
|
rs972580856
|
|
NM_001164508.2(NEB):c.16021T>G (p.Leu5341Val)
|
rs796103760
|
|
NM_001164508.2(NEB):c.16032T>C (p.Gly5344=)
|
rs2153836369
|
|
NM_001164508.2(NEB):c.16091G>A (p.Arg5364His)
|
rs1181822886
|
|
NM_001164508.2(NEB):c.16286A>C (p.Lys5429Thr)
|
rs2153832209
|
|
NM_001164508.2(NEB):c.16347C>T (p.Ala5449=)
|
rs1578472035
|
|
NM_001164508.2(NEB):c.16382T>C (p.Ile5461Thr)
|
rs1250825186
|
|
NM_001164508.2(NEB):c.16521G>A (p.Lys5507=)
|
|
|
NM_001164508.2(NEB):c.16530C>T (p.Asn5510=)
|
|
|
NM_001164508.2(NEB):c.16653C>T (p.Pro5551=)
|
|
|
NM_001164508.2(NEB):c.17635-3dup
|
rs3214503
|
|
NM_001164508.2(NEB):c.18825G>A (p.Gln6275=)
|
rs1577662437
|
|
NM_001164508.2(NEB):c.19810G>C (p.Val6604Leu)
|
rs1577221319
|
|
NM_001164508.2(NEB):c.19901T>C (p.Val6634Ala)
|
rs771989092
|
|
NM_001164508.2(NEB):c.20263-7dup
|
rs763008896
|
|
NM_001164508.2(NEB):c.20446C>G (p.Arg6816Gly)
|
rs780644697
|
|
NM_001164508.2(NEB):c.20467-12_20467-4dup
|
rs10687343
|
|
NM_001164508.2(NEB):c.20467-4del
|
rs10687343
|
|
NM_001164508.2(NEB):c.20467-6_20467-4dup
|
rs10687343
|
|
NM_001164508.2(NEB):c.3175T>C (p.Leu1059=)
|
rs1449746588
|
|
NM_001164508.2(NEB):c.3420C>A (p.Pro1140=)
|
|
|
NM_001164508.2(NEB):c.426T>C (p.Asp142=)
|
rs200590080
|
|
NM_001164508.2(NEB):c.4564T>C (p.Leu1522=)
|
|
|
NM_001164508.2(NEB):c.5032-13dup
|
rs148862132
|
|
NM_001164508.2(NEB):c.5628C>G (p.Leu1876=)
|
rs771407375
|
|
NM_001164508.2(NEB):c.5698_5703del (p.Tyr1900_Asn1901del)
|
rs775531807
|
|
NM_001164508.2(NEB):c.5971-6dup
|
rs551520922
|
|
NM_001164508.2(NEB):c.7010T>C (p.Val2337Ala)
|
rs1558825869
|
|
NM_001164508.2(NEB):c.7431+1919_7431+1953del
|
rs2154129041
|
|
NM_001164508.2(NEB):c.7499T>C (p.Ile2500Thr)
|
rs1389139743
|
|
NM_001164508.2(NEB):c.7872C>T (p.Tyr2624=)
|
|
|
NM_001164508.2(NEB):c.8161-4T>G
|
|
|
NM_001164508.2(NEB):c.903A>T (p.Arg301Ser)
|
|
|
NM_001164508.2(NEB):c.9054C>T (p.Asp3018=)
|
rs748395516
|
|
NM_001164508.2(NEB):c.927+14G>A
|
rs1577279380
|
|
NM_001164508.2(NEB):c.9346G>A (p.Glu3116Lys)
|
rs193042896
|
|
NM_001164508.2(NEB):c.9377T>C (p.Val3126Ala)
|
rs1560731497
|
|
NM_001164508.2(NEB):c.9467T>A (p.Ile3156Asn)
|
rs145770770
|
|
NM_001164508.2(NEB):c.9552A>G (p.Lys3184=)
|
rs2154073140
|
|
NM_001164508.2(NEB):c.9631G>C (p.Glu3211Gln)
|
|
|