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
|
0.82475
|
NM_020549.5(CHAT):c.1839+71C>T
|
rs7076926
|
0.82308
|
NM_020549.5(CHAT):c.1511+167C>T
|
rs3793797
|
0.82103
|
NM_020549.5(CHAT):c.1512-301T>G
|
rs7903496
|
0.56537
|
NM_020984.4(CHAT):c.-68-3357G>T
|
rs3729496
|
0.54898
|
NM_020549.5(CHAT):c.-44G>C
|
rs7903315
|
0.54734
|
NM_020549.5(CHAT):c.1839+129A>G
|
rs7094421
|
0.45857
|
NM_020549.5(CHAT):c.1840-191G>A
|
rs11101200
|
0.42687
|
NM_020549.5(CHAT):c.1840-172T>C
|
rs10857527
|
0.40387
|
NM_020549.5(CHAT):c.1634+183A>G
|
rs7076082
|
0.40073
|
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
|
0.27168
|
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.358G>A (p.Ala120Thr)
|
rs3810950
|
0.17408
|
NM_020549.5(CHAT):c.287-431G>A
|
rs1880676
|
0.17399
|
NM_020549.5(CHAT):c.699-190C>T
|
rs111470900
|
0.17383
|
NM_020549.4(CHAT):c.-220C>G
|
rs8178984
|
0.14347
|
NM_020549.5(CHAT):c.699-250G>T
|
rs2889759
|
0.13449
|
NM_020549.5(CHAT):c.933+140G>A
|
rs868750
|
0.12764
|
NM_020549.5(CHAT):c.287-510C>T
|
rs8178988
|
0.12587
|
NM_020549.5(CHAT):c.579+102A>C
|
rs10857519
|
0.11206
|
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.287-304C>A
|
rs11101182
|
0.10616
|
NM_020549.5(CHAT):c.753-26C>T
|
rs12257601
|
0.09336
|
NM_020549.5(CHAT):c.753-135A>C
|
rs12265074
|
0.08711
|
NM_020549.5(CHAT):c.1112-68G>A
|
rs2377871
|
0.06956
|
NM_020984.4(CHAT):c.-68-2714T>G
|
rs10857517
|
0.06524
|
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
|
0.03420
|
NM_020549.5(CHAT):c.1281+47G>A
|
rs11101192
|
0.02888
|
NM_020549.5(CHAT):c.1383-205G>A
|
rs60626181
|
0.02763
|
NM_020549.5(CHAT):c.141C>G (p.Asp47Glu)
|
rs3810948
|
0.02698
|
NM_020549.5(CHAT):c.934-43G>A
|
rs56722599
|
0.02652
|
NM_020549.5(CHAT):c.1674C>T (p.Ser558=)
|
rs7073028
|
0.02218
|
NM_020549.5(CHAT):c.1281+87G>A
|
rs60959867
|
0.02037
|
NM_020549.5(CHAT):c.1282-25G>A
|
rs114196611
|
0.02033
|
NM_020549.5(CHAT):c.1131G>A (p.Ser377=)
|
rs115126024
|
0.01906
|
NM_020549.5(CHAT):c.1281+16G>A
|
rs61132699
|
0.01903
|
NM_020549.5(CHAT):c.1122C>T (p.Asn374=)
|
rs61115650
|
0.01896
|
NM_020549.5(CHAT):c.388-68G>C
|
rs78979304
|
0.01777
|
NM_020549.5(CHAT):c.-17G>A
|
rs77152496
|
0.01739
|
NM_020549.5(CHAT):c.903T>C (p.Pro301=)
|
rs113897064
|
0.01548
|
NM_020549.5(CHAT):c.2067C>T (p.Ile689=)
|
rs3793801
|
0.01546
|
NC_000010.11:g.49608962C>A
|
rs142471965
|
0.01494
|
NM_020549.5(CHAT):c.580-248G>A
|
rs12261316
|
0.01401
|
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
|
0.01034
|
NM_020549.5(CHAT):c.752+55T>A
|
rs114246134
|
0.00934
|
NM_020549.5(CHAT):c.1682G>A (p.Arg561Gln)
|
rs80097077
|
0.00825
|
NM_020549.5(CHAT):c.711C>G (p.Ser237Arg)
|
rs78925077
|
0.00813
|
NM_020549.5(CHAT):c.1511+186T>C
|
rs114523735
|
0.00790
|
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
|
0.00664
|
NM_020549.5(CHAT):c.698+137C>T
|
rs78187119
|
0.00626
|
NM_020549.5(CHAT):c.1978-24C>G
|
rs73321467
|
0.00571
|
NM_020549.5(CHAT):c.698+196A>G
|
rs139452325
|
0.00426
|
NM_020549.5(CHAT):c.745C>G (p.Leu249Val)
|
rs115510708
|
0.00392
|
NM_020549.5(CHAT):c.896C>T (p.Pro299Leu)
|
rs868749
|
0.00385
|
NM_020549.5(CHAT):c.933+61G>A
|
rs17010196
|
0.00357
|
NM_020549.5(CHAT):c.934-181C>T
|
rs142166548
|
0.00303
|
NM_020549.5(CHAT):c.934-156C>T
|
rs113959465
|
0.00291
|
NM_020549.5(CHAT):c.286+79C>T
|
rs533560996
|
0.00280
|
NM_020549.5(CHAT):c.1135G>C (p.Asp379His)
|
rs115212829
|
0.00278
|
NM_020549.5(CHAT):c.1248C>T (p.Asn416=)
|
rs116071049
|
0.00185
|
NM_020549.5(CHAT):c.789G>A (p.Leu263=)
|
rs114090981
|
0.00172
|
NM_020549.5(CHAT):c.2177C>T (p.Pro726Leu)
|
rs79414242
|
0.00127
|
NM_020549.5(CHAT):c.665G>C (p.Arg222Pro)
|
rs8178989
|
0.00086
|
NM_020549.5(CHAT):c.1069G>A (p.Gly357Arg)
|
rs61731735
|
0.00074
|
NM_020549.5(CHAT):c.605T>G (p.Met202Arg)
|
rs376808313
|
0.00045
|
NM_020549.5(CHAT):c.1883G>A (p.Arg628Gln)
|
rs114545628
|
0.00040
|
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.494T>C (p.Ile165Thr)
|
rs148155075
|
0.00014
|
NM_020549.5(CHAT):c.406G>A (p.Val136Met)
|
rs201479289
|
0.00011
|
NM_020549.5(CHAT):c.580-5G>A
|
rs763339825
|
0.00006
|
NM_020549.5(CHAT):c.1669G>A (p.Ala557Thr)
|
rs372760913
|
0.00004
|
NM_020549.5(CHAT):c.452G>A (p.Arg151Gln)
|
rs202059535
|
0.00003
|
NM_020549.5(CHAT):c.1300G>A (p.Gly434Ser)
|
rs115964813
|
0.00002
|
NM_020549.5(CHAT):c.1839+12C>T
|
rs1554808562
|
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.387T>C (p.Ser129=)
|
rs143723043
|
0.00002
|
NM_020549.5(CHAT):c.1511+11C>T
|
rs746929234
|
0.00001
|
NM_020549.5(CHAT):c.1679G>A (p.Arg560His)
|
rs121912819
|
0.00001
|
NM_020549.5(CHAT):c.1231G>A (p.Gly411Arg)
|
|
|
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.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.178C>T (p.His60Tyr)
|
rs959739791
|
|
NM_020549.5(CHAT):c.1840-192C>G
|
rs114959772
|
|
NM_020549.5(CHAT):c.2107TCT[1] (p.Ser705del)
|
rs750942168
|
|
NM_020549.5(CHAT):c.287-442C>T
|
rs41306415
|
|
NM_020549.5(CHAT):c.349del (p.Arg117fs)
|
rs1198717023
|
|
NM_020549.5(CHAT):c.579+37C>T
|
rs138137810
|
|
NM_020549.5(CHAT):c.59_60del (p.Glu20fs)
|
rs531450737
|
|
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.944T>C (p.Leu315Ser)
|
|
|