NM_000330.4(RS1):c.184+3484C>A
|
rs33958554
|
0.66040
|
NM_000330.4(RS1):c.185-150A>C
|
rs6633107
|
0.09819
|
NM_000330.4(RS1):c.522+66A>C
|
rs41309707
|
0.06999
|
NM_000330.4(RS1):c.330T>C (p.Cys110=)
|
rs1801161
|
0.06874
|
NM_000330.4(RS1):c.184+3207C>T
|
rs35693326
|
0.02951
|
NM_000330.4(RS1):c.295A>G (p.Asn99Asp)
|
rs144683916
|
0.01920
|
NM_000330.4(RS1):c.185-3439C>T
|
rs142949334
|
0.00694
|
NM_000330.4(RS1):c.523-10A>C
|
rs142428831
|
0.00691
|
NM_000330.4(RS1):c.184+3357T>C
|
rs139047348
|
0.00664
|
NM_000330.4(RS1):c.185-3548A>G
|
rs151084706
|
0.00654
|
NM_000330.4(RS1):c.184+3243C>T
|
rs58669795
|
0.00568
|
NM_000330.4(RS1):c.258G>A (p.Pro86=)
|
rs147290350
|
0.00472
|
NM_000330.4(RS1):c.184+3118C>T
|
rs139155110
|
0.00352
|
NM_000330.4(RS1):c.184+3199G>A
|
rs36022183
|
0.00345
|
NM_000330.4(RS1):c.184+3208G>A
|
rs150900695
|
0.00231
|
NM_000330.4(RS1):c.548C>T (p.Thr183Ile)
|
rs150172233
|
0.00178
|
NM_000330.4(RS1):c.576C>T (p.Pro192=)
|
rs186334493
|
0.00025
|
NM_000330.4(RS1):c.264G>C (p.Gln88His)
|
rs201680258
|
0.00021
|
NM_000330.4(RS1):c.523-18T>C
|
rs370113264
|
0.00021
|
NM_000330.4(RS1):c.285G>A (p.Ser95=)
|
rs143920122
|
0.00018
|
NM_000330.4(RS1):c.185-12T>C
|
rs370600721
|
0.00010
|
NM_000330.4(RS1):c.185-3213A>C
|
rs143243059
|
0.00009
|
NM_000330.4(RS1):c.522G>A (p.Arg174=)
|
rs762407219
|
0.00008
|
NM_000330.4(RS1):c.185-3134G>A
|
rs202153551
|
0.00007
|
NM_000330.4(RS1):c.185-3189C>T
|
rs570887192
|
0.00006
|
NM_000330.4(RS1):c.326+14G>A
|
rs370841048
|
0.00006
|
NM_000330.4(RS1):c.326+17G>C
|
rs750398322
|
0.00006
|
NM_000330.4(RS1):c.597C>A (p.Ile199=)
|
rs200052722
|
0.00005
|
NM_000330.4(RS1):c.185-3221G>C
|
rs374054249
|
0.00004
|
NM_000330.4(RS1):c.522+5G>A
|
rs200074383
|
0.00004
|
NM_000330.4(RS1):c.661A>G (p.Ser221Gly)
|
rs1339570385
|
0.00004
|
NM_000330.4(RS1):c.234G>A (p.Pro78=)
|
rs183092299
|
0.00003
|
NM_000330.4(RS1):c.306G>T (p.Arg102=)
|
rs762601581
|
0.00003
|
NM_000330.4(RS1):c.521G>A (p.Arg174Gln)
|
rs765547068
|
0.00003
|
NM_000330.4(RS1):c.184+3119G>A
|
rs762576315
|
0.00002
|
NM_000330.4(RS1):c.184+3171C>T
|
rs727503848
|
0.00002
|
NM_000330.4(RS1):c.184+3190C>A
|
rs267608667
|
0.00002
|
NM_000330.4(RS1):c.185-3188G>A
|
rs267608665
|
0.00002
|
NM_000330.4(RS1):c.257C>T (p.Pro86Leu)
|
rs761385911
|
0.00002
|
NM_000330.4(RS1):c.320G>A (p.Gly107Asp)
|
rs143682861
|
0.00002
|
NM_000330.4(RS1):c.325G>C (p.Gly109Arg)
|
rs104894934
|
0.00002
|
NM_000330.4(RS1):c.326+1130C>T
|
rs1487927674
|
0.00002
|
NM_000330.4(RS1):c.327-6C>T
|
rs372728604
|
0.00002
|
NM_000330.4(RS1):c.432C>T (p.Ile144=)
|
rs775507405
|
0.00002
|
NM_000330.4(RS1):c.433G>A (p.Asp145Asn)
|
rs184603580
|
0.00002
|
NM_000330.4(RS1):c.471C>T (p.Thr157=)
|
rs754381417
|
0.00002
|
NM_000330.4(RS1):c.478C>T (p.Arg160Cys)
|
rs766007270
|
0.00002
|
NM_000330.4(RS1):c.513A>C (p.Gly171=)
|
rs1218580579
|
0.00002
|
NM_000330.4(RS1):c.539C>T (p.Ser180Leu)
|
rs760857618
|
0.00002
|
NM_000330.4(RS1):c.600C>T (p.Arg200=)
|
rs771514400
|
0.00002
|
NM_000330.4(RS1):c.185-14T>G
|
rs1406465626
|
0.00001
|
NM_000330.4(RS1):c.185-3054G>A
|
rs1294833087
|
0.00001
|
NM_000330.4(RS1):c.185-3090_185-3089insT
|
rs1158418673
|
0.00001
|
NM_000330.4(RS1):c.185-3109C>T
|
rs1057522669
|
0.00001
|
NM_000330.4(RS1):c.185-3146G>A
|
rs1398393336
|
0.00001
|
NM_000330.4(RS1):c.185-3161G>C
|
rs1064794669
|
0.00001
|
NM_000330.4(RS1):c.185-3170A>G
|
rs781435432
|
0.00001
|
NM_000330.4(RS1):c.185-3176C>T
|
rs747799506
|
0.00001
|
NM_000330.4(RS1):c.194del (p.Tyr65fs)
|
rs62645893
|
0.00001
|
NM_000330.4(RS1):c.196C>G (p.His66Asp)
|
rs1244059097
|
0.00001
|
NM_000330.4(RS1):c.213C>T (p.Phe71=)
|
rs764292483
|
0.00001
|
NM_000330.4(RS1):c.214G>A (p.Glu72Lys)
|
rs104894928
|
0.00001
|
NM_000330.4(RS1):c.216G>A (p.Glu72=)
|
rs104894932
|
0.00001
|
NM_000330.4(RS1):c.221G>T (p.Gly74Val)
|
rs104894933
|
0.00001
|
NM_000330.4(RS1):c.289A>C (p.Thr97Pro)
|
rs746374375
|
0.00001
|
NM_000330.4(RS1):c.304C>T (p.Arg102Trp)
|
rs61752067
|
0.00001
|
NM_000330.4(RS1):c.305G>A (p.Arg102Gln)
|
rs61752068
|
0.00001
|
NM_000330.4(RS1):c.326+1089C>A
|
rs886042724
|
0.00001
|
NM_000330.4(RS1):c.326+10G>A
|
rs1473346927
|
0.00001
|
NM_000330.4(RS1):c.326+1159C>G
|
rs587783160
|
0.00001
|
NM_000330.4(RS1):c.326+8G>C
|
rs752870628
|
0.00001
|
NM_000330.4(RS1):c.327-16G>A
|
rs1005590954
|
0.00001
|
NM_000330.4(RS1):c.345G>A (p.Lys115=)
|
rs768571577
|
0.00001
|
NM_000330.4(RS1):c.416del (p.Gln139fs)
|
rs61752155
|
0.00001
|
NM_000330.4(RS1):c.450G>C (p.Lys150Asn)
|
rs1342574819
|
0.00001
|
NM_000330.4(RS1):c.479G>A (p.Arg160His)
|
rs758816133
|
0.00001
|
NM_000330.4(RS1):c.510T>C (p.Thr170=)
|
rs1473665189
|
0.00001
|
NM_000330.4(RS1):c.523-7T>C
|
rs1241552856
|
0.00001
|
NM_000330.4(RS1):c.535A>C (p.Asn179His)
|
rs61753170
|
0.00001
|
NM_000330.4(RS1):c.544C>T (p.Arg182Cys)
|
rs61753171
|
0.00001
|
NM_000330.4(RS1):c.554C>T (p.Thr185Met)
|
rs61753173
|
0.00001
|
NM_000330.4(RS1):c.572G>A (p.Arg191Gln)
|
rs1402116265
|
0.00001
|
NM_000330.4(RS1):c.580A>G (p.Ile194Val)
|
rs1464991419
|
0.00001
|
NM_000330.4(RS1):c.590G>A (p.Arg197His)
|
rs281865355
|
0.00001
|
NM_000330.4(RS1):c.655T>G (p.Cys219Gly)
|
rs281865369
|
0.00001
|
NM_000330.4(RS1):c.672C>T (p.Ala224=)
|
rs773102905
|
0.00001
|
GRCh37/hg19 Xp22.13(chrX:18661283-18702225)x1
|
|
|
GRCh37/hg19 Xp22.13(chrX:18662484-18662736)x2
|
|
|
NC_000023.10:g.(?_18660124)_(18660296_?)dup
|
|
|
NC_000023.10:g.(?_18662530)_(18690188_?)del
|
|
|
NC_000023.10:g.(?_18662550)_(18690188_?)del
|
|
|
NC_000023.10:g.(?_18663320)_(18665330_?)del
|
|
|
NC_000023.10:g.(?_18665301)_(18665462_?)del
|
|
|
NM_000330.4(RS1):c.*146del
|
rs377648180
|
|
NM_000330.4(RS1):c.184+2977A>T
|
rs34450419
|
|
NM_000330.4(RS1):c.184+2978T>C
|
rs56396491
|
|
NM_000330.4(RS1):c.184+3118C>G
|
rs139155110
|
|
NM_000330.4(RS1):c.184+3127C>T
|
|
|
NM_000330.4(RS1):c.184+3128G>A
|
rs768289707
|
|
NM_000330.4(RS1):c.184+3139G>C
|
rs779791138
|
|
NM_000330.4(RS1):c.184+3154A>G
|
rs1211411564
|
|
NM_000330.4(RS1):c.184+3168G>A
|
|
|
NM_000330.4(RS1):c.184+3174T>C
|
rs2147201232
|
|
NM_000330.4(RS1):c.184+3185G>A
|
rs573588032
|
|
NM_000330.4(RS1):c.184+3199G>C
|
rs36022183
|
|
NM_000330.4(RS1):c.184+3219A>T
|
|
|
NM_000330.4(RS1):c.185-149_185-148del
|
rs199718286
|
|
NM_000330.4(RS1):c.185-17T>A
|
|
|
NM_000330.4(RS1):c.185-1G>C
|
rs281865344
|
|
NM_000330.4(RS1):c.185-1G>T
|
|
|
NM_000330.4(RS1):c.185-29_185-17del
|
|
|
NM_000330.4(RS1):c.185-3078_185-3076del
|
rs1085307780
|
|
NM_000330.4(RS1):c.185-3100del
|
rs1158352360
|
|
NM_000330.4(RS1):c.185-3110G>T
|
|
|
NM_000330.4(RS1):c.185-3119_185-3117dup
|
rs1064795115
|
|
NM_000330.4(RS1):c.185-3179G>C
|
|
|
NM_000330.4(RS1):c.185-3215G>T
|
rs775114662
|
|
NM_000330.4(RS1):c.185-3259G>A
|
|
|
NM_000330.4(RS1):c.185-3281C>G
|
rs148531754
|
|
NM_000330.4(RS1):c.185-3C>T
|
|
|
NM_000330.4(RS1):c.185-4C>T
|
|
|
NM_000330.4(RS1):c.185-7T>C
|
rs2147194244
|
|
NM_000330.4(RS1):c.187T>C (p.Cys63Arg)
|
rs2147194234
|
|
NM_000330.4(RS1):c.188G>A (p.Cys63Tyr)
|
|
|
NM_000330.4(RS1):c.188G>T (p.Cys63Phe)
|
|
|
NM_000330.4(RS1):c.189C>A (p.Cys63Ter)
|
|
|
NM_000330.4(RS1):c.192A>G (p.Pro64=)
|
|
|
NM_000330.4(RS1):c.193T>C (p.Tyr65His)
|
|
|
NM_000330.4(RS1):c.194A>G (p.Tyr65Cys)
|
rs62645892
|
|
NM_000330.4(RS1):c.199_206dup (p.Gly70fs)
|
rs1927824776
|
|
NM_000330.4(RS1):c.201G>A (p.Lys67=)
|
|
|
NM_000330.4(RS1):c.204T>C (p.Pro68=)
|
|
|
NM_000330.4(RS1):c.208G>A (p.Gly70Ser)
|
rs62645894
|
|
NM_000330.4(RS1):c.208G>C (p.Gly70Arg)
|
rs62645894
|
|
NM_000330.4(RS1):c.208G>T (p.Gly70Cys)
|
|
|
NM_000330.4(RS1):c.209G>A (p.Gly70Asp)
|
rs62645895
|
|
NM_000330.4(RS1):c.209G>C (p.Gly70Ala)
|
rs62645895
|
|
NM_000330.4(RS1):c.214G>C (p.Glu72Gln)
|
rs104894928
|
|
NM_000330.4(RS1):c.215A>G (p.Glu72Gly)
|
rs1927823799
|
|
NM_000330.4(RS1):c.215A>T (p.Glu72Val)
|
|
|
NM_000330.4(RS1):c.216G>C (p.Glu72Asp)
|
rs104894932
|
|
NM_000330.4(RS1):c.217T>C (p.Ser73Pro)
|
rs62645899
|
|
NM_000330.4(RS1):c.218C>A (p.Ser73Ter)
|
rs1927823203
|
|
NM_000330.4(RS1):c.218C>G (p.Ser73Ter)
|
rs1927823203
|
|
NM_000330.4(RS1):c.219A>G (p.Ser73=)
|
rs2147194156
|
|
NM_000330.4(RS1):c.219del (p.Glu75fs)
|
rs62645900
|
|
NM_000330.4(RS1):c.221_237delinsTCCCCTGACCGGGTTAGAGT (p.Gly74_Asp79delinsValProTer)
|
rs1555957756
|
|
NM_000330.4(RS1):c.222G>A (p.Gly74=)
|
|
|
NM_000330.4(RS1):c.223G>T (p.Glu75Ter)
|
rs62641252
|
|
NM_000330.4(RS1):c.227T>A (p.Val76Asp)
|
rs2147194138
|
|
NM_000330.4(RS1):c.228C>T (p.Val76=)
|
rs1927822249
|
|
NM_000330.4(RS1):c.231A>C (p.Thr77=)
|
rs1927822098
|
|
NM_000330.4(RS1):c.233C>T (p.Pro78Leu)
|
|
|
NM_000330.4(RS1):c.242T>A (p.Ile81Asn)
|
rs61750457
|
|
NM_000330.4(RS1):c.247T>C (p.Cys83Arg)
|
rs1927820779
|
|
NM_000330.4(RS1):c.249C>T (p.Cys83=)
|
rs2147194071
|
|
NM_000330.4(RS1):c.251C>G (p.Ser84Cys)
|
|
|
NM_000330.4(RS1):c.253_255del (p.Asn85del)
|
rs61750458
|
|
NM_000330.4(RS1):c.258G>T (p.Pro86=)
|
|
|
NM_000330.4(RS1):c.262C>T (p.Gln88Ter)
|
rs61750459
|
|
NM_000330.4(RS1):c.265T>C (p.Tyr89His)
|
rs2147194034
|
|
NM_000330.4(RS1):c.266A>G (p.Tyr89Cys)
|
rs61752060
|
|
NM_000330.4(RS1):c.267T>A (p.Tyr89Ter)
|
rs61752061
|
|
NM_000330.4(RS1):c.267T>C (p.Tyr89=)
|
|
|
NM_000330.4(RS1):c.268G>C (p.Val90Leu)
|
|
|
NM_000330.4(RS1):c.272G>C (p.Gly91Ala)
|
rs373612815
|
|
NM_000330.4(RS1):c.274T>G (p.Trp92Gly)
|
rs2147194007
|
|
NM_000330.4(RS1):c.275G>T (p.Trp92Leu)
|
|
|
NM_000330.4(RS1):c.276G>C (p.Trp92Cys)
|
rs61752062
|
|
NM_000330.4(RS1):c.278_280del (p.Tyr93del)
|
|
|
NM_000330.4(RS1):c.279T>A (p.Tyr93Ter)
|
rs1057520548
|
|
NM_000330.4(RS1):c.279T>C (p.Tyr93=)
|
|
|
NM_000330.4(RS1):c.279TTC[1] (p.Ser95del)
|
|
|
NM_000330.4(RS1):c.284C>A (p.Ser95Ter)
|
|
|
NM_000330.4(RS1):c.286T>C (p.Trp96Arg)
|
rs61752063
|
|
NM_000330.4(RS1):c.288G>A (p.Trp96Ter)
|
rs61752064
|
|
NM_000330.4(RS1):c.288G>C (p.Trp96Cys)
|
rs61752064
|
|
NM_000330.4(RS1):c.293C>A (p.Ala98Glu)
|
rs61752065
|
|
NM_000330.4(RS1):c.297C>T (p.Asn99=)
|
|
|
NM_000330.4(RS1):c.301G>C (p.Ala101Pro)
|
rs61752066
|
|
NM_000330.4(RS1):c.301del (p.Ala101fs)
|
rs63465862
|
|
NM_000330.4(RS1):c.302C>A (p.Ala101Asp)
|
rs2147193941
|
|
NM_000330.4(RS1):c.302C>T (p.Ala101Val)
|
rs2147193941
|
|
NM_000330.4(RS1):c.305G>C (p.Arg102Pro)
|
|
|
NM_000330.4(RS1):c.306G>A (p.Arg102=)
|
rs762601581
|
|
NM_000330.4(RS1):c.308T>G (p.Leu103Arg)
|
rs61752069
|
|
NM_000330.4(RS1):c.311A>C (p.Asn104Thr)
|
rs1927814979
|
|
NM_000330.4(RS1):c.312C>G (p.Asn104Lys)
|
rs61752070
|
|
NM_000330.4(RS1):c.315T>C (p.Ser105=)
|
|
|
NM_000330.4(RS1):c.316C>T (p.Gln106Ter)
|
rs1386256334
|
|
NM_000330.4(RS1):c.318dup (p.Gly107fs)
|
rs61752071
|
|
NM_000330.4(RS1):c.321C>T (p.Gly107=)
|
|
|
NM_000330.4(RS1):c.323T>G (p.Phe108Cys)
|
rs61752072
|
|
NM_000330.4(RS1):c.325G>A (p.Gly109Arg)
|
rs104894934
|
|
NM_000330.4(RS1):c.325G>T (p.Gly109Trp)
|
rs104894934
|
|
NM_000330.4(RS1):c.326+1091C>G
|
rs1569229724
|
|
NM_000330.4(RS1):c.326+1149A>C
|
rs2147192642
|
|
NM_000330.4(RS1):c.326+11C>T
|
|
|
NM_000330.4(RS1):c.326+13C>A
|
|
|
NM_000330.4(RS1):c.326+13C>T
|
|
|
NM_000330.4(RS1):c.326+14G>C
|
|
|
NM_000330.4(RS1):c.326+17G>A
|
rs750398322
|
|
NM_000330.4(RS1):c.326+19T>A
|
|
|
NM_000330.4(RS1):c.326+1G>A
|
rs281865346
|
|
NM_000330.4(RS1):c.326+1G>T
|
rs281865346
|
|
NM_000330.4(RS1):c.326+2T>G
|
rs2147193875
|
|
NM_000330.4(RS1):c.326+4A>C
|
|
|
NM_000330.4(RS1):c.326+7A>G
|
|
|
NM_000330.4(RS1):c.326G>A (p.Gly109Glu)
|
rs281865345
|
|
NM_000330.4(RS1):c.326G>C (p.Gly109Ala)
|
rs281865345
|
|
NM_000330.4(RS1):c.326G>T (p.Gly109Val)
|
|
|
NM_000330.4(RS1):c.327-10T>C
|
rs2147191454
|
|
NM_000330.4(RS1):c.327-15G>C
|
|
|
NM_000330.4(RS1):c.327-17C>T
|
|
|
NM_000330.4(RS1):c.327-1G>A
|
|
|
NM_000330.4(RS1):c.327-2A>G
|
rs2147191432
|
|
NM_000330.4(RS1):c.327-2_337del
|
|
|
NM_000330.4(RS1):c.327-5G>A
|
rs773769605
|
|
NM_000330.4(RS1):c.327-5G>C
|
|
|
NM_000330.4(RS1):c.327-5G>T
|
|
|
NM_000330.4(RS1):c.327-9_327-4del
|
rs2147191437
|
|
NM_000330.4(RS1):c.329G>A (p.Cys110Tyr)
|
rs61752075
|
|
NM_000330.4(RS1):c.330T>A (p.Cys110Ter)
|
rs1801161
|
|
NM_000330.4(RS1):c.332C>A (p.Ala111Asp)
|
rs2147191414
|
|
NM_000330.4(RS1):c.332C>T (p.Ala111Val)
|
rs2147191414
|
|
NM_000330.4(RS1):c.335_336dup (p.Leu113fs)
|
rs1927705610
|
|
NM_000330.4(RS1):c.336G>C (p.Trp112Cys)
|
rs61752144
|
|
NM_000330.4(RS1):c.336G>T (p.Trp112Cys)
|
rs61752144
|
|
NM_000330.4(RS1):c.337C>T (p.Leu113Phe)
|
rs61752145
|
|
NM_000330.4(RS1):c.341C>T (p.Ser114Phe)
|
rs2147191395
|
|
NM_000330.4(RS1):c.345G>C (p.Lys115Asn)
|
|
|
NM_000330.4(RS1):c.348C>T (p.Phe116=)
|
rs2147191388
|
|
NM_000330.4(RS1):c.349_350insT (p.Gln117fs)
|
rs61752146
|
|
NM_000330.4(RS1):c.354C>T (p.Asp118=)
|
rs1927704453
|
|
NM_000330.4(RS1):c.364T>C (p.Trp122Arg)
|
rs2147191370
|
|
NM_000330.4(RS1):c.366G>A (p.Trp122Ter)
|
rs61752147
|
|
NM_000330.4(RS1):c.366G>C (p.Trp122Cys)
|
rs61752147
|
|
NM_000330.4(RS1):c.369A>G (p.Leu123=)
|
|
|
NM_000330.4(RS1):c.370C>T (p.Gln124Ter)
|
rs2147191361
|
|
NM_000330.4(RS1):c.371dup (p.Ile125fs)
|
|
|
NM_000330.4(RS1):c.372_373insTAGCCAGTGG (p.Ile125Ter)
|
rs2147191359
|
|
NM_000330.4(RS1):c.374T>C (p.Ile125Thr)
|
rs199469695
|
|
NM_000330.4(RS1):c.374T>G (p.Ile125Arg)
|
rs199469695
|
|
NM_000330.4(RS1):c.375_378del (p.Ile125_Asp126insTer)
|
rs61752148
|
|
NM_000330.4(RS1):c.376G>C (p.Asp126His)
|
rs199469698
|
|
NM_000330.4(RS1):c.376G>T (p.Asp126Tyr)
|
|
|
NM_000330.4(RS1):c.379C>A (p.Leu127Met)
|
rs1927703033
|
|
NM_000330.4(RS1):c.379C>T (p.Leu127=)
|
rs1927703033
|
|
NM_000330.4(RS1):c.380T>C (p.Leu127Pro)
|
rs61752149
|
|
NM_000330.4(RS1):c.381G>C (p.Leu127=)
|
|
|
NM_000330.4(RS1):c.385_387del (p.Glu129del)
|
rs1927702371
|
|
NM_000330.4(RS1):c.387_434dup (p.Ile144_Asp145insGluIleLysValIleSerGlyIleLeuThrGlnGlyArgCysAspIle)
|
rs199469699
|
|
NM_000330.4(RS1):c.389T>A (p.Ile130Asn)
|
|
|
NM_000330.4(RS1):c.392_393del (p.Lys131fs)
|
rs281865347
|
|
NM_000330.4(RS1):c.397A>T (p.Ile133Phe)
|
rs61752151
|
|
NM_000330.4(RS1):c.398T>C (p.Ile133Thr)
|
|
|
NM_000330.4(RS1):c.399T>C (p.Ile133=)
|
|
|
NM_000330.4(RS1):c.402A>G (p.Ser134=)
|
rs1927701439
|
|
NM_000330.4(RS1):c.404G>A (p.Gly135Glu)
|
rs61752152
|
|
NM_000330.4(RS1):c.404G>C (p.Gly135Ala)
|
|
|
NM_000330.4(RS1):c.404G>T (p.Gly135Val)
|
rs61752152
|
|
NM_000330.4(RS1):c.407T>A (p.Ile136Asn)
|
|
|
NM_000330.4(RS1):c.407T>C (p.Ile136Thr)
|
rs61752153
|
|
NM_000330.4(RS1):c.408C>T (p.Ile136=)
|
|
|
NM_000330.4(RS1):c.409C>T (p.Leu137Phe)
|
rs1927700931
|
|
NM_000330.4(RS1):c.412A>G (p.Thr138Ala)
|
rs61752154
|
|
NM_000330.4(RS1):c.414C>A (p.Thr138=)
|
rs1602310733
|
|
NM_000330.4(RS1):c.415C>T (p.Gln139Ter)
|
|
|
NM_000330.4(RS1):c.418G>A (p.Gly140Arg)
|
rs61752156
|
|
NM_000330.4(RS1):c.418G>T (p.Gly140Trp)
|
|
|
NM_000330.4(RS1):c.419G>A (p.Gly140Glu)
|
rs61752157
|
|
NM_000330.4(RS1):c.420G>A (p.Gly140=)
|
|
|
NM_000330.4(RS1):c.421C>G (p.Arg141Gly)
|
rs61752158
|
|
NM_000330.4(RS1):c.421C>T (p.Arg141Cys)
|
rs61752158
|
|
NM_000330.4(RS1):c.422G>A (p.Arg141His)
|
rs61752159
|
|
NM_000330.4(RS1):c.423C>A (p.Arg141=)
|
|
|
NM_000330.4(RS1):c.424T>G (p.Cys142Gly)
|
|
|
NM_000330.4(RS1):c.426T>C (p.Cys142=)
|
rs1800001
|
|
NM_000330.4(RS1):c.426T>G (p.Cys142Trp)
|
rs1800001
|
|
NM_000330.4(RS1):c.426_427del (p.Cys142_Asp143delinsTer)
|
rs61753160
|
|
NM_000330.4(RS1):c.428A>T (p.Asp143Val)
|
rs61753161
|
|
NM_000330.4(RS1):c.435T>C (p.Asp145=)
|
|
|
NM_000330.4(RS1):c.436G>A (p.Glu146Lys)
|
rs61753162
|
|
NM_000330.4(RS1):c.438G>C (p.Glu146Asp)
|
rs61753163
|
|
NM_000330.4(RS1):c.439T>C (p.Trp147Arg)
|
rs2147191229
|
|
NM_000330.4(RS1):c.451T>C (p.Tyr151His)
|
rs2147191221
|
|
NM_000330.4(RS1):c.452A>C (p.Tyr151Ser)
|
rs1131691380
|
|
NM_000330.4(RS1):c.457G>A (p.Val153Met)
|
|
|
NM_000330.4(RS1):c.460C>G (p.Gln154Glu)
|
rs61753164
|
|
NM_000330.4(RS1):c.460C>T (p.Gln154Ter)
|
rs61753164
|
|
NM_000330.4(RS1):c.461A>G (p.Gln154Arg)
|
rs2147191205
|
|
NM_000330.4(RS1):c.464A>G (p.Tyr155Cys)
|
rs61753165
|
|
NM_000330.4(RS1):c.464dup (p.Tyr155Ter)
|
rs2147191194
|
|
NM_000330.4(RS1):c.465C>T (p.Tyr155=)
|
|
|
NM_000330.4(RS1):c.466A>G (p.Arg156Gly)
|
rs2147191190
|
|
NM_000330.4(RS1):c.467G>A (p.Arg156Lys)
|
rs2147191184
|
|
NM_000330.4(RS1):c.471C>G (p.Thr157=)
|
rs754381417
|
|
NM_000330.4(RS1):c.472G>A (p.Asp158Asn)
|
rs1800002
|
|
NM_000330.4(RS1):c.475G>A (p.Glu159Lys)
|
|
|
NM_000330.4(RS1):c.477G>C (p.Glu159Asp)
|
rs2147191161
|
|
NM_000330.4(RS1):c.479G>T (p.Arg160Leu)
|
|
|
NM_000330.4(RS1):c.481dup (p.Leu161fs)
|
rs2147191149
|
|
NM_000330.4(RS1):c.487T>G (p.Trp163Gly)
|
rs1927695346
|
|
NM_000330.4(RS1):c.489G>A (p.Trp163Ter)
|
rs61753166
|
|
NM_000330.4(RS1):c.489G>T (p.Trp163Cys)
|
rs61753166
|
|
NM_000330.4(RS1):c.495C>T (p.Tyr165=)
|
rs2147191132
|
|
NM_000330.4(RS1):c.498C>A (p.Tyr166Ter)
|
rs1057516744
|
|
NM_000330.4(RS1):c.499A>G (p.Lys167Glu)
|
|
|
NM_000330.4(RS1):c.499A>T (p.Lys167Ter)
|
rs61753167
|
|
NM_000330.4(RS1):c.501G>C (p.Lys167Asn)
|
rs61753168
|
|
NM_000330.4(RS1):c.505C>T (p.Gln169Ter)
|
|
|
NM_000330.4(RS1):c.508A>C (p.Thr170Pro)
|
rs2147191116
|
|
NM_000330.4(RS1):c.511G>A (p.Gly171Arg)
|
rs2147191113
|
|
NM_000330.4(RS1):c.519C>T (p.Asn173=)
|
|
|
NM_000330.4(RS1):c.520del (p.Arg174fs)
|
rs886041235
|
|
NM_000330.4(RS1):c.522+10G>A
|
|
|
NM_000330.4(RS1):c.522+11C>G
|
|
|
NM_000330.4(RS1):c.522+11C>T
|
|
|
NM_000330.4(RS1):c.522+16C>A
|
|
|
NM_000330.4(RS1):c.522+17C>G
|
|
|
NM_000330.4(RS1):c.522+18C>G
|
|
|
NM_000330.4(RS1):c.522+1G>A
|
rs281865348
|
|
NM_000330.4(RS1):c.522+1G>T
|
rs281865348
|
|
NM_000330.4(RS1):c.522+2T>A
|
rs2147191083
|
|
NM_000330.4(RS1):c.522+9G>A
|
rs1927692982
|
|
NM_000330.4(RS1):c.523-10_523-7del
|
rs746069375
|
|
NM_000330.4(RS1):c.523-11T>C
|
|
|
NM_000330.4(RS1):c.523-20G>T
|
|
|
NM_000330.4(RS1):c.523-2A>G
|
rs281865349
|
|
NM_000330.4(RS1):c.523-4C>T
|
|
|
NM_000330.4(RS1):c.523-5T>A
|
|
|
NM_000330.4(RS1):c.525C>A (p.Val175=)
|
|
|
NM_000330.4(RS1):c.527T>C (p.Phe176Ser)
|
|
|
NM_000330.4(RS1):c.531T>G (p.Tyr177Ter)
|
rs2147189125
|
|
NM_000330.4(RS1):c.533G>A (p.Gly178Asp)
|
rs61753169
|
|
NM_000330.4(RS1):c.534C>G (p.Gly178=)
|
|
|
NM_000330.4(RS1):c.535A>G (p.Asn179Asp)
|
rs61753170
|
|
NM_000330.4(RS1):c.540G>C (p.Ser180=)
|
rs767660711
|
|
NM_000330.4(RS1):c.544C>G (p.Arg182Gly)
|
rs61753171
|
|
NM_000330.4(RS1):c.545G>A (p.Arg182His)
|
|
|
NM_000330.4(RS1):c.545G>C (p.Arg182Pro)
|
|
|
NM_000330.4(RS1):c.546C>T (p.Arg182=)
|
rs1927606398
|
|
NM_000330.4(RS1):c.548_549dup (p.Ser184fs)
|
rs61753172
|
|
NM_000330.4(RS1):c.550T>C (p.Ser184Pro)
|
|
|
NM_000330.4(RS1):c.552C>T (p.Ser184=)
|
|
|
NM_000330.4(RS1):c.554C>A (p.Thr185Lys)
|
rs61753173
|
|
NM_000330.4(RS1):c.555G>C (p.Thr185=)
|
rs769781603
|
|
NM_000330.4(RS1):c.555G>T (p.Thr185=)
|
rs769781603
|
|
NM_000330.4(RS1):c.562A>G (p.Asn188Asp)
|
rs2147189068
|
|
NM_000330.4(RS1):c.565C>T (p.Leu189=)
|
|
|
NM_000330.4(RS1):c.567G>A (p.Leu189=)
|
rs2147189059
|
|
NM_000330.4(RS1):c.567G>C (p.Leu189=)
|
rs2147189059
|
|
NM_000330.4(RS1):c.573_574delinsTT (p.Pro192Ser)
|
rs2147189048
|
|
NM_000330.4(RS1):c.574C>A (p.Pro192Thr)
|
rs61753174
|
|
NM_000330.4(RS1):c.574C>G (p.Pro192Ala)
|
rs61753174
|
|
NM_000330.4(RS1):c.574C>T (p.Pro192Ser)
|
rs61753174
|
|
NM_000330.4(RS1):c.575C>A (p.Pro192His)
|
rs61753175
|
|
NM_000330.4(RS1):c.575C>G (p.Pro192Arg)
|
rs61753175
|
|
NM_000330.4(RS1):c.575C>T (p.Pro192Leu)
|
rs61753175
|
|
NM_000330.4(RS1):c.575_576insT (p.Ile194fs)
|
rs1927604163
|
|
NM_000330.4(RS1):c.576C>A (p.Pro192=)
|
rs186334493
|
|
NM_000330.4(RS1):c.576_577insT (p.Pro193fs)
|
rs281865350
|
|
NM_000330.4(RS1):c.577C>T (p.Pro193Ser)
|
rs281865351
|
|
NM_000330.4(RS1):c.577_579del (p.Pro193del)
|
|
|
NM_000330.4(RS1):c.578C>T (p.Pro193Leu)
|
rs281865352
|
|
NM_000330.4(RS1):c.579del (p.Ile194fs)
|
rs199469697
|
|
NM_000330.4(RS1):c.579dup (p.Ile194fs)
|
rs199469697
|
|
NM_000330.4(RS1):c.580ATC[3] (p.Ile195_Ser196insIle)
|
rs199469701
|
|
NM_000330.4(RS1):c.581dup (p.Ile195fs)
|
rs2147189016
|
|
NM_000330.4(RS1):c.582C>A (p.Ile194=)
|
|
|
NM_000330.4(RS1):c.582C>T (p.Ile194=)
|
|
|
NM_000330.4(RS1):c.589C>T (p.Arg197Cys)
|
rs281865354
|
|
NM_000330.4(RS1):c.590G>C (p.Arg197Pro)
|
rs281865355
|
|
NM_000330.4(RS1):c.596T>C (p.Ile199Thr)
|
rs281865356
|
|
NM_000330.4(RS1):c.598C>T (p.Arg200Cys)
|
rs281865357
|
|
NM_000330.4(RS1):c.599G>A (p.Arg200His)
|
rs281865358
|
|
NM_000330.4(RS1):c.599G>C (p.Arg200Pro)
|
|
|
NM_000330.4(RS1):c.606C>T (p.Ile202=)
|
rs1800003
|
|
NM_000330.4(RS1):c.607C>A (p.Pro203Thr)
|
rs1927600619
|
|
NM_000330.4(RS1):c.607C>T (p.Pro203Ser)
|
|
|
NM_000330.4(RS1):c.608C>T (p.Pro203Leu)
|
rs104894930
|
|
NM_000330.4(RS1):c.617G>C (p.Trp206Ser)
|
rs2147188942
|
|
NM_000330.4(RS1):c.617G>T (p.Trp206Leu)
|
|
|
NM_000330.4(RS1):c.618G>A (p.Trp206Ter)
|
rs281865359
|
|
NM_000330.4(RS1):c.619C>A (p.His207Asn)
|
|
|
NM_000330.4(RS1):c.619C>G (p.His207Asp)
|
rs2147188931
|
|
NM_000330.4(RS1):c.621C>A (p.His207Gln)
|
|
|
NM_000330.4(RS1):c.621C>G (p.His207Gln)
|
rs281865360
|
|
NM_000330.4(RS1):c.621C>T (p.His207=)
|
rs281865360
|
|
NM_000330.4(RS1):c.625C>G (p.Arg209Gly)
|
rs281865361
|
|
NM_000330.4(RS1):c.625C>T (p.Arg209Cys)
|
rs281865361
|
|
NM_000330.4(RS1):c.626G>A (p.Arg209His)
|
rs281865362
|
|
NM_000330.4(RS1):c.629T>A (p.Ile210Asn)
|
rs757697856
|
|
NM_000330.4(RS1):c.629T>C (p.Ile210Thr)
|
|
|
NM_000330.4(RS1):c.629T>G (p.Ile210Ser)
|
|
|
NM_000330.4(RS1):c.630T>C (p.Ile210=)
|
|
|
NM_000330.4(RS1):c.631G>A (p.Ala211Thr)
|
rs281865363
|
|
NM_000330.4(RS1):c.632C>G (p.Ala211Gly)
|
|
|
NM_000330.4(RS1):c.637C>T (p.Arg213Trp)
|
rs281865365
|
|
NM_000330.4(RS1):c.637del (p.Arg213fs)
|
rs2147188897
|
|
NM_000330.4(RS1):c.638G>A (p.Arg213Gln)
|
rs281865364
|
|
NM_000330.4(RS1):c.638G>T (p.Arg213Leu)
|
rs281865364
|
|
NM_000330.4(RS1):c.639del (p.Met214fs)
|
rs281865366
|
|
NM_000330.4(RS1):c.643G>A (p.Glu215Lys)
|
rs281865367
|
|
NM_000330.4(RS1):c.643G>C (p.Glu215Gln)
|
rs281865367
|
|
NM_000330.4(RS1):c.644A>T (p.Glu215Val)
|
rs2147188877
|
|
NM_000330.4(RS1):c.647T>C (p.Leu216Pro)
|
rs281865368
|
|
NM_000330.4(RS1):c.648G>A (p.Leu216=)
|
|
|
NM_000330.4(RS1):c.651G>A (p.Leu217=)
|
|
|
NM_000330.4(RS1):c.654G>C (p.Glu218Asp)
|
rs2147188867
|
|
NM_000330.4(RS1):c.655T>C (p.Cys219Arg)
|
rs281865369
|
|
NM_000330.4(RS1):c.655del (p.Cys219fs)
|
rs281865370
|
|
NM_000330.4(RS1):c.656G>A (p.Cys219Tyr)
|
rs2147188856
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NM_000330.4(RS1):c.656_657delinsAG (p.Cys219Ter)
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NM_000330.4(RS1):c.658_*7del (p.Val220fs)
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rs281865371
|
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NM_000330.4(RS1):c.663dup (p.Lys222fs)
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rs199469700
|
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NM_000330.4(RS1):c.666G>A (p.Lys222=)
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rs1800004
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NM_000330.4(RS1):c.666G>C (p.Lys222Asn)
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rs1800004
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NM_000330.4(RS1):c.667T>C (p.Cys223Arg)
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rs104894929
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NM_000330.4(RS1):c.667T>G (p.Cys223Gly)
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rs104894929
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NM_000330.4(RS1):c.668G>A (p.Cys223Tyr)
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rs1057517816
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