NM_020549.5(CHAT):c.1511+208T>C
|
rs1917812
|
0.98717
|
NM_020549.5(CHAT):c.-10T>G
|
rs7923716
|
0.97663
|
NM_020549.5(CHAT):c.580-35G>A
|
rs1880677
|
0.97479
|
NM_020549.5(CHAT):c.1634+331T>C
|
rs4838545
|
0.96306
|
NM_020549.5(CHAT):c.1111+136C>A
|
rs3810951
|
0.84582
|
NM_020549.5(CHAT):c.1641T>C (p.His547=)
|
rs8178992
|
0.82309
|
NM_020549.5(CHAT):c.1839+71C>T
|
rs7076926
|
0.82115
|
NM_020549.5(CHAT):c.1511+167C>T
|
rs3793797
|
0.82103
|
NM_020549.5(CHAT):c.1512-301T>G
|
rs7903496
|
0.56536
|
NM_020984.4(CHAT):c.-68-3357G>T
|
rs3729496
|
0.54220
|
NM_020549.5(CHAT):c.1839+129A>G
|
rs7094421
|
0.46883
|
NM_020549.5(CHAT):c.1840-191G>A
|
rs11101200
|
0.42687
|
NM_020549.5(CHAT):c.1634+183A>G
|
rs7076082
|
0.40073
|
NM_020549.5(CHAT):c.1840-172T>C
|
rs10857527
|
0.39369
|
NM_020549.5(CHAT):c.1635-58A>C
|
rs12264845
|
0.39300
|
NM_020549.5(CHAT):c.1511+295A>G
|
rs1917811
|
0.38823
|
NM_020549.5(CHAT):c.1511+153T>C
|
rs1917813
|
0.37722
|
NM_020549.5(CHAT):c.1634+177C>G
|
rs10857521
|
0.26845
|
NM_020549.5(CHAT):c.1511+237T>A
|
rs996997175
|
0.25704
|
NM_020549.5(CHAT):c.1511+244T>A
|
rs866151068
|
0.23949
|
NM_020549.5(CHAT):c.699-190C>T
|
rs111470900
|
0.18151
|
NM_020549.5(CHAT):c.358G>A (p.Ala120Thr)
|
rs3810950
|
0.17408
|
NM_020549.5(CHAT):c.287-431G>A
|
rs1880676
|
0.17399
|
NM_020984.4(CHAT):c.-68-2532C>G
|
rs8178984
|
0.14185
|
NM_020549.5(CHAT):c.699-250G>T
|
rs2889759
|
0.13449
|
NM_020549.5(CHAT):c.287-510C>T
|
rs8178988
|
0.13007
|
NM_020549.5(CHAT):c.933+140G>A
|
rs868750
|
0.12650
|
NM_020549.5(CHAT):c.579+102A>C
|
rs10857519
|
0.11560
|
NM_020549.5(CHAT):c.287-304C>A
|
rs11101182
|
0.10944
|
NM_020549.5(CHAT):c.287-567C>T
|
rs8178987
|
0.10924
|
NM_020549.5(CHAT):c.287-718G>A
|
rs8178986
|
0.10918
|
NM_020549.5(CHAT):c.753-26C>T
|
rs12257601
|
0.09336
|
NM_020549.5(CHAT):c.753-135A>C
|
rs12265074
|
0.09316
|
NM_020984.4(CHAT):c.-68-2714T>G
|
rs10857517
|
0.06524
|
NM_020549.5(CHAT):c.1112-68G>A
|
rs2377871
|
0.06446
|
NM_020549.5(CHAT):c.388-50C>T
|
rs4838537
|
0.06434
|
NM_020549.5(CHAT):c.1383-42G>C
|
rs61710556
|
0.05243
|
NM_020549.5(CHAT):c.727C>T (p.Leu243Phe)
|
rs8178990
|
0.04717
|
NM_020549.5(CHAT):c.1111+45G>A
|
rs58788269
|
0.04525
|
NM_020549.5(CHAT):c.1112-83G>T
|
rs7912483
|
0.03693
|
NM_020549.5(CHAT):c.1383-205G>A
|
rs60626181
|
0.02763
|
NM_020549.5(CHAT):c.934-43G>A
|
rs56722599
|
0.02652
|
NM_020549.5(CHAT):c.1281+47G>A
|
rs11101192
|
0.02533
|
NM_020549.5(CHAT):c.141C>G (p.Asp47Glu)
|
rs3810948
|
0.02150
|
NM_020549.5(CHAT):c.1281+87G>A
|
rs60959867
|
0.02037
|
NM_020549.5(CHAT):c.1131G>A (p.Ser377=)
|
rs115126024
|
0.02036
|
NM_020549.5(CHAT):c.1282-25G>A
|
rs114196611
|
0.02033
|
NM_020549.5(CHAT):c.1122C>T (p.Asn374=)
|
rs61115650
|
0.02026
|
NM_020549.5(CHAT):c.388-68G>C
|
rs78979304
|
0.01879
|
NM_020549.5(CHAT):c.903T>C (p.Pro301=)
|
rs113897064
|
0.01548
|
NC_000010.11:g.49608962C>A
|
rs142471965
|
0.01542
|
NM_020549.5(CHAT):c.580-248G>A
|
rs12261316
|
0.01517
|
NM_020549.5(CHAT):c.933+195G>A
|
rs74133816
|
0.01385
|
NM_020549.5(CHAT):c.1198G>A (p.Asp400Asn)
|
rs8178991
|
0.01308
|
NM_020549.5(CHAT):c.698+60C>T
|
rs41306828
|
0.01062
|
NM_020549.5(CHAT):c.752+55T>A
|
rs114246134
|
0.00934
|
NM_020549.5(CHAT):c.1511+186T>C
|
rs114523735
|
0.00851
|
NM_020549.5(CHAT):c.1682G>A (p.Arg561Gln)
|
rs80097077
|
0.00825
|
NM_020549.5(CHAT):c.711C>G (p.Ser237Arg)
|
rs78925077
|
0.00824
|
NM_020549.5(CHAT):c.579+240T>A
|
rs114414580
|
0.00783
|
NM_020549.5(CHAT):c.1112-54G>A
|
rs188593790
|
0.00719
|
NM_020549.5(CHAT):c.1383-252C>G
|
rs116560674
|
0.00712
|
NM_020549.5(CHAT):c.698+137C>T
|
rs78187119
|
0.00626
|
NM_020549.5(CHAT):c.1978-24C>G
|
rs73321467
|
0.00615
|
NM_020549.5(CHAT):c.698+196A>G
|
rs139452325
|
0.00458
|
NM_020549.5(CHAT):c.745C>G (p.Leu249Val)
|
rs115510708
|
0.00392
|
NM_020549.5(CHAT):c.933+61G>A
|
rs17010196
|
0.00392
|
NM_020549.5(CHAT):c.1372C>T (p.Leu458Phe)
|
rs76014951
|
0.00391
|
NM_020549.5(CHAT):c.896C>T (p.Pro299Leu)
|
rs868749
|
0.00385
|
NM_020549.5(CHAT):c.934-181C>T
|
rs142166548
|
0.00303
|
NM_020549.5(CHAT):c.286+79C>T
|
rs533560996
|
0.00300
|
NM_020549.5(CHAT):c.934-156C>T
|
rs113959465
|
0.00300
|
NM_020549.5(CHAT):c.1135G>C (p.Asp379His)
|
rs115212829
|
0.00296
|
NM_020549.5(CHAT):c.438C>T (p.Tyr146=)
|
rs61731734
|
0.00210
|
NM_020549.5(CHAT):c.1248C>T (p.Asn416=)
|
rs116071049
|
0.00187
|
NM_020549.5(CHAT):c.789G>A (p.Leu263=)
|
rs114090981
|
0.00172
|
NM_020549.5(CHAT):c.909C>T (p.His303=)
|
rs76570508
|
0.00136
|
NM_020549.5(CHAT):c.2177C>T (p.Pro726Leu)
|
rs79414242
|
0.00129
|
NM_020549.5(CHAT):c.665G>C (p.Arg222Pro)
|
rs8178989
|
0.00086
|
NM_020549.5(CHAT):c.1069G>A (p.Gly357Arg)
|
rs61731735
|
0.00082
|
NM_020549.5(CHAT):c.327G>A (p.Thr109=)
|
rs79914771
|
0.00060
|
NM_020549.5(CHAT):c.605T>G (p.Met202Arg)
|
rs376808313
|
0.00045
|
NM_020549.5(CHAT):c.1883G>A (p.Arg628Gln)
|
rs114545628
|
0.00037
|
NM_020549.5(CHAT):c.1087G>A (p.Glu363Lys)
|
rs75262191
|
0.00036
|
NM_020549.5(CHAT):c.2222G>A (p.Arg741Lys)
|
rs114719193
|
0.00034
|
NM_020549.5(CHAT):c.2178G>A (p.Pro726=)
|
rs77144546
|
0.00026
|
NM_020549.5(CHAT):c.1511G>A (p.Arg504Gln)
|
rs200335347
|
0.00015
|
NM_020549.5(CHAT):c.867G>A (p.Thr289=)
|
rs574542737
|
0.00012
|
NM_020549.5(CHAT):c.406G>A (p.Val136Met)
|
rs201479289
|
0.00011
|
NM_020549.5(CHAT):c.284C>A (p.Ala95Glu)
|
rs977117524
|
0.00010
|
NM_020549.5(CHAT):c.435G>A (p.Thr145=)
|
rs77296560
|
0.00010
|
NM_020549.5(CHAT):c.580-5G>A
|
rs763339825
|
0.00006
|
NM_020549.5(CHAT):c.1668C>T (p.Ser556=)
|
rs55702495
|
0.00004
|
NM_020549.5(CHAT):c.1669G>A (p.Ala557Thr)
|
rs372760913
|
0.00004
|
NM_020549.5(CHAT):c.1771G>A (p.Val591Met)
|
rs201485243
|
0.00004
|
NM_020549.5(CHAT):c.1635-5C>A
|
rs776745899
|
0.00003
|
NM_020549.5(CHAT):c.452G>A (p.Arg151Gln)
|
rs202059535
|
0.00003
|
NM_020549.5(CHAT):c.620G>A (p.Arg207His)
|
rs764497513
|
0.00003
|
NM_020549.5(CHAT):c.1300G>A (p.Gly434Ser)
|
rs115964813
|
0.00002
|
NM_020549.5(CHAT):c.1840-9A>G
|
rs1279554995
|
0.00002
|
NM_020549.5(CHAT):c.350G>A (p.Arg117His)
|
rs376641216
|
0.00002
|
NM_020549.5(CHAT):c.462G>A (p.Val154=)
|
rs771258646
|
0.00002
|
NM_020549.5(CHAT):c.1147C>T (p.Arg383Cys)
|
rs771822812
|
0.00001
|
NM_020549.5(CHAT):c.1197C>T (p.Ser399=)
|
rs554276268
|
0.00001
|
NM_020549.5(CHAT):c.1228G>A (p.Gly410Ser)
|
rs749948399
|
0.00001
|
NM_020549.5(CHAT):c.127G>A (p.Gly43Arg)
|
rs1423177834
|
0.00001
|
NM_020549.5(CHAT):c.1288G>A (p.Val430Met)
|
rs745991038
|
0.00001
|
NM_020549.5(CHAT):c.1679G>A (p.Arg560His)
|
rs121912819
|
0.00001
|
NM_020549.5(CHAT):c.1823C>A (p.Thr608Asn)
|
rs773228076
|
0.00001
|
NM_020549.5(CHAT):c.357G>A (p.Met119Ile)
|
rs759310217
|
0.00001
|
NM_020549.5(CHAT):c.631C>G (p.Pro211Ala)
|
rs121912815
|
0.00001
|
GRCh37/hg19 10q11.23(chr10:50854551-50860052)x3
|
|
|
NM_020549.5(CHAT):c.1229G>A (p.Gly410Asp)
|
rs1554807101
|
|
NM_020549.5(CHAT):c.1335C>T (p.Phe445=)
|
rs752229820
|
|
NM_020549.5(CHAT):c.1382+109dup
|
rs150122136
|
|
NM_020549.5(CHAT):c.1382+120AC[12]
|
rs10580502
|
|
NM_020549.5(CHAT):c.1382+120AC[13]
|
rs10580502
|
|
NM_020549.5(CHAT):c.1382+120AC[14]
|
rs10580502
|
|
NM_020549.5(CHAT):c.1382+120AC[15]
|
rs10580502
|
|
NM_020549.5(CHAT):c.1382+120AC[18]
|
rs10580502
|
|
NM_020549.5(CHAT):c.1444A>G (p.Arg482Gly)
|
rs121912818
|
|
NM_020549.5(CHAT):c.1511+246_1511+258del
|
rs59979541
|
|
NM_020549.5(CHAT):c.1511+248_1511+258del
|
rs59979541
|
|
NM_020549.5(CHAT):c.1511+256_1511+258del
|
rs59979541
|
|
NM_020549.5(CHAT):c.1511+257_1511+258del
|
rs59979541
|
|
NM_020549.5(CHAT):c.1511+258del
|
rs59979541
|
|
NM_020549.5(CHAT):c.1511+315dup
|
rs35501115
|
|
NM_020549.5(CHAT):c.1635-263del
|
rs11330862
|
|
NM_020549.5(CHAT):c.1840-192C>G
|
rs114959772
|
|
NM_020549.5(CHAT):c.1977+7C>G
|
rs1590628697
|
|
NM_020549.5(CHAT):c.2107TCT[1] (p.Ser705del)
|
rs750942168
|
|
NM_020549.5(CHAT):c.2158_2159del (p.Asp720fs)
|
rs2132858865
|
|
NM_020549.5(CHAT):c.2171T>C (p.Leu724Pro)
|
rs760920908
|
|
NM_020549.5(CHAT):c.25A>G (p.Arg9Gly)
|
rs587780314
|
|
NM_020549.5(CHAT):c.287-441G>A
|
|
|
NM_020549.5(CHAT):c.287-442C>T
|
rs41306415
|
|
NM_020549.5(CHAT):c.349del (p.Arg117fs)
|
rs1198717023
|
|
NM_020549.5(CHAT):c.418C>T (p.Gln140Ter)
|
rs794727516
|
|
NM_020549.5(CHAT):c.456C>T (p.His152=)
|
rs1590561433
|
|
NM_020549.5(CHAT):c.579+37C>T
|
rs138137810
|
|
NM_020549.5(CHAT):c.59_60del (p.Glu20fs)
|
rs531450737
|
|
NM_020549.5(CHAT):c.619C>G (p.Arg207Gly)
|
rs760936252
|
|
NM_020549.5(CHAT):c.698+289G>T
|
rs146753981
|
|
NM_020549.5(CHAT):c.698+303C>A
|
rs145476125
|
|
NM_020549.5(CHAT):c.699-169G>A
|
rs57681997
|
|
NM_020549.5(CHAT):c.699-169G>T
|
rs57681997
|
|
NM_020549.5(CHAT):c.699-214_699-193del
|
rs372971047
|
|
NM_020549.5(CHAT):c.699-315A>G
|
rs4488118
|
|
NM_020549.5(CHAT):c.833CCT[1] (p.Ser279del)
|
rs560648873
|
|
NM_020549.5(CHAT):c.85A>T (p.Arg29Ter)
|
rs772025588
|
|
NM_020549.5(CHAT):c.887G>A (p.Ser296Asn)
|
rs1554803699
|
|