NM_000487.6(ARSA):c.465+1G>A
|
rs80338815
|
0.00046
|
NM_000487.6(ARSA):c.1283C>T (p.Pro428Leu)
|
rs28940893
|
0.00037
|
NM_000487.6(ARSA):c.542T>G (p.Ile181Ser)
|
rs74315457
|
0.00029
|
NM_000487.6(ARSA):c.869G>A (p.Arg290His)
|
rs199476355
|
0.00011
|
NM_000487.6(ARSA):c.1010A>T (p.Asp337Val)
|
rs74315475
|
0.00006
|
NM_000487.6(ARSA):c.641C>T (p.Ala214Val)
|
rs74315467
|
0.00006
|
NM_000487.6(ARSA):c.1175G>A (p.Arg392Gln)
|
rs199476391
|
0.00004
|
NM_000487.6(ARSA):c.257G>A (p.Arg86Gln)
|
rs74315458
|
0.00004
|
NM_000487.6(ARSA):c.293C>T (p.Ser98Phe)
|
rs74315456
|
0.00004
|
NM_000487.6(ARSA):c.474C>A (p.Cys158Ter)
|
rs768028181
|
0.00004
|
NM_000487.6(ARSA):c.925G>A (p.Glu309Lys)
|
rs199476360
|
0.00004
|
NM_000487.6(ARSA):c.1264del (p.Ser421_Leu422insTer)
|
rs755635209
|
0.00003
|
NM_000487.6(ARSA):c.542dup (p.Leu183fs)
|
rs776748338
|
0.00003
|
NM_000487.6(ARSA):c.677C>T (p.Ala226Val)
|
rs74315468
|
0.00003
|
NM_000487.6(ARSA):c.931G>A (p.Gly311Ser)
|
rs74315459
|
0.00003
|
NM_000487.6(ARSA):c.1292A>C (p.Tyr431Ser)
|
rs199476380
|
0.00002
|
NM_000487.6(ARSA):c.251C>T (p.Pro84Leu)
|
rs6151411
|
0.00002
|
NM_000487.6(ARSA):c.346C>T (p.Arg116Ter)
|
rs761860059
|
0.00002
|
NM_000487.6(ARSA):c.960G>A (p.Trp320Ter)
|
rs1375757476
|
0.00002
|
NM_000487.6(ARSA):c.979G>A (p.Gly327Ser)
|
rs148092995
|
0.00002
|
NM_000487.6(ARSA):c.991G>A (p.Glu331Lys)
|
rs398123419
|
0.00002
|
NM_000487.6(ARSA):c.1115G>A (p.Arg372Gln)
|
rs74315477
|
0.00001
|
NM_000487.6(ARSA):c.1150G>A (p.Glu384Lys)
|
rs74315479
|
0.00001
|
NM_000487.6(ARSA):c.1174C>T (p.Arg392Trp)
|
rs74315480
|
0.00001
|
NM_000487.6(ARSA):c.1195C>T (p.His399Tyr)
|
rs199476376
|
0.00001
|
NM_000487.6(ARSA):c.1210+1G>A
|
rs80338820
|
0.00001
|
NM_000487.6(ARSA):c.1471T>G (p.Cys491Gly)
|
rs199476388
|
0.00001
|
NM_000487.6(ARSA):c.178C>T (p.Arg60Trp)
|
rs867538940
|
0.00001
|
NM_000487.6(ARSA):c.195del (p.Phe64_Tyr65insTer)
|
rs398123414
|
0.00001
|
NM_000487.6(ARSA):c.244C>T (p.Arg82Trp)
|
rs1313802305
|
0.00001
|
NM_000487.6(ARSA):c.256C>T (p.Arg86Trp)
|
rs199476352
|
0.00001
|
NM_000487.6(ARSA):c.338T>C (p.Leu113Pro)
|
rs777431148
|
0.00001
|
NM_000487.6(ARSA):c.370G>A (p.Gly124Ser)
|
rs74315461
|
0.00001
|
NM_000487.6(ARSA):c.433C>T (p.Arg145Ter)
|
rs199476373
|
0.00001
|
NM_000487.6(ARSA):c.526C>T (p.Gln176Ter)
|
rs762284875
|
0.00001
|
NM_000487.6(ARSA):c.608A>G (p.Tyr203Cys)
|
rs199476345
|
0.00001
|
NM_000487.6(ARSA):c.640G>A (p.Ala214Thr)
|
rs199476341
|
0.00001
|
NM_000487.6(ARSA):c.674A>G (p.Tyr225Cys)
|
rs527640350
|
0.00001
|
NM_000487.6(ARSA):c.684+1G>A
|
rs146371968
|
0.00001
|
NM_000487.6(ARSA):c.736C>T (p.Arg246Cys)
|
rs74315470
|
0.00001
|
NM_000487.6(ARSA):c.737G>A (p.Arg246His)
|
rs199476366
|
0.00001
|
NM_000487.6(ARSA):c.746T>C (p.Phe249Ser)
|
rs199476384
|
0.00001
|
NM_000487.6(ARSA):c.769G>C (p.Asp257His)
|
rs80338819
|
0.00001
|
NM_000487.6(ARSA):c.827C>T (p.Thr276Met)
|
rs74315472
|
0.00001
|
NM_000487.6(ARSA):c.847G>T (p.Asp283Tyr)
|
rs199476386
|
0.00001
|
NM_000487.6(ARSA):c.855-1G>A
|
rs754898479
|
0.00001
|
NM_000487.6(ARSA):c.868C>T (p.Arg290Cys)
|
rs74315473
|
0.00001
|
NM_000487.6(ARSA):c.883G>A (p.Gly295Ser)
|
rs199476349
|
0.00001
|
NM_000487.6(ARSA):c.901C>T (p.Arg301Trp)
|
rs794727704
|
0.00001
|
NM_000487.6(ARSA):c.938G>A (p.Arg313Gln)
|
rs199476382
|
0.00001
|
ARSA, 1-BP DEL, 297C
|
|
|
NC_000022.10:g.(?_51063563)_(51066217_?)del
|
|
|
NC_000022.10:g.(?_51063573)_(51064511_?)del
|
|
|
NC_000022.10:g.(?_51064344)_(51066227_?)del
|
|
|
NC_000022.10:g.(?_51065065)_(51065595_?)del
|
|
|
NC_000022.11:g.(?_50625125)_(50627799_?)del
|
|
|
NM_000487.5(ARSA):c.467del
|
rs2082684340
|
|
NM_000487.6(ARSA):c.1007T>C (p.Leu336Pro)
|
rs2082660121
|
|
NM_000487.6(ARSA):c.1030del (p.Ala344fs)
|
|
|
NM_000487.6(ARSA):c.1046del (p.Pro349fs)
|
rs1603444908
|
|
NM_000487.6(ARSA):c.1053del (p.Asn352fs)
|
|
|
NM_000487.6(ARSA):c.1079T>C (p.Leu360Pro)
|
rs2082658031
|
|
NM_000487.6(ARSA):c.1087dup (p.Leu363fs)
|
rs2082657747
|
|
NM_000487.6(ARSA):c.109G>C (p.Asp37His)
|
rs2146728318
|
|
NM_000487.6(ARSA):c.109_116del (p.Asp37fs)
|
rs753415648
|
|
NM_000487.6(ARSA):c.1107+1G>A
|
rs2146718906
|
|
NM_000487.6(ARSA):c.1107+1G>C
|
|
|
NM_000487.6(ARSA):c.1107+1G>T
|
rs2146718906
|
|
NM_000487.6(ARSA):c.1107+1del
|
rs1057517036
|
|
NM_000487.6(ARSA):c.1108-2A>G
|
rs398123411
|
|
NM_000487.6(ARSA):c.110_111insACTGGGCTGCTATGGGCA (p.Asp37delinsGluLeuGlyCysTyrGlyHis)
|
|
|
NM_000487.6(ARSA):c.1114C>T (p.Arg372Trp)
|
rs74315476
|
|
NM_000487.6(ARSA):c.1123_1126del (p.Leu375fs)
|
rs398123412
|
|
NM_000487.6(ARSA):c.1128_1129dup (p.Phe377fs)
|
|
|
NM_000487.6(ARSA):c.1136C>T (p.Pro379Leu)
|
rs74315478
|
|
NM_000487.6(ARSA):c.1136del (p.Pro379fs)
|
rs2146717905
|
|
NM_000487.6(ARSA):c.116dup (p.Cys40fs)
|
|
|
NM_000487.6(ARSA):c.1198TTC[1] (p.Phe401del)
|
rs1569077723
|
|
NM_000487.6(ARSA):c.1223_1231del (p.Ser408_Thr410del)
|
rs765905826
|
|
NM_000487.6(ARSA):c.1228_1229del (p.Thr410fs)
|
rs2146716979
|
|
NM_000487.6(ARSA):c.1228dup (p.Thr410fs)
|
rs2146716994
|
|
NM_000487.6(ARSA):c.1232C>T (p.Thr411Ile)
|
rs74315481
|
|
NM_000487.6(ARSA):c.1264_1265del (p.Leu422fs)
|
|
|
NM_000487.6(ARSA):c.1274A>G (p.His425Arg)
|
rs1135401757
|
|
NM_000487.6(ARSA):c.1278del (p.Glu426fs)
|
|
|
NM_000487.6(ARSA):c.1279C>T (p.Pro427Ser)
|
|
|
NM_000487.6(ARSA):c.1282_1283dup (p.Leu429fs)
|
|
|
NM_000487.6(ARSA):c.1289T>C (p.Leu430Pro)
|
rs199476392
|
|
NM_000487.6(ARSA):c.1293T>A (p.Tyr431Ter)
|
rs1209071029
|
|
NM_000487.6(ARSA):c.129_133del (p.His43fs)
|
|
|
NM_000487.6(ARSA):c.1314_1315del (p.Asn440fs)
|
|
|
NM_000487.6(ARSA):c.1330dup (p.Leu444fs)
|
|
|
NM_000487.6(ARSA):c.1337del (p.Gly446fs)
|
rs750030142
|
|
NM_000487.6(ARSA):c.1344dup (p.Gly449fs)
|
rs761555167
|
|
NM_000487.6(ARSA):c.1366C>T (p.Gln456Ter)
|
rs2082644196
|
|
NM_000487.6(ARSA):c.1378C>T (p.Gln460Ter)
|
rs973061258
|
|
NM_000487.6(ARSA):c.1399C>T (p.Gln467Ter)
|
|
|
NM_000487.6(ARSA):c.13del (p.Ala5fs)
|
rs919125796
|
|
NM_000487.6(ARSA):c.1428dup (p.Ser477fs)
|
|
|
NM_000487.6(ARSA):c.1447G>T (p.Glu483Ter)
|
rs148352371
|
|
NM_000487.6(ARSA):c.1451del (p.Asp484fs)
|
|
|
NM_000487.6(ARSA):c.1489_1492dup (p.Arg498fs)
|
rs774153480
|
|
NM_000487.6(ARSA):c.1492dup (p.Arg498fs)
|
rs774153480
|
|
NM_000487.6(ARSA):c.157C>T (p.Gln53Ter)
|
rs1603445026
|
|
NM_000487.6(ARSA):c.157_164del (p.Gln53fs)
|
rs2082698834
|
|
NM_000487.6(ARSA):c.185_186del (p.Thr62fs)
|
rs1227301119
|
|
NM_000487.6(ARSA):c.195C>G (p.Tyr65Ter)
|
|
|
NM_000487.6(ARSA):c.200del (p.Pro67fs)
|
rs2082697802
|
|
NM_000487.6(ARSA):c.208_209del (p.Leu70fs)
|
rs1555901112
|
|
NM_000487.6(ARSA):c.209T>C (p.Leu70Pro)
|
rs199476351
|
|
NM_000487.6(ARSA):c.211_212del (p.Cys71fs)
|
rs1057516288
|
|
NM_000487.6(ARSA):c.229G>C (p.Ala77Pro)
|
rs763880042
|
|
NM_000487.6(ARSA):c.240dup (p.Gly81fs)
|
rs786204599
|
|
NM_000487.6(ARSA):c.244del (p.Arg82fs)
|
rs1569081823
|
|
NM_000487.6(ARSA):c.245G>T (p.Arg82Leu)
|
|
|
NM_000487.6(ARSA):c.263G>A (p.Gly88Asp)
|
rs74315460
|
|
NM_000487.6(ARSA):c.263del (p.Gly88fs)
|
|
|
NM_000487.6(ARSA):c.269_335del (p.Tyr90fs)
|
|
|
NM_000487.6(ARSA):c.270C>A (p.Tyr90Ter)
|
rs780399417
|
|
NM_000487.6(ARSA):c.272del (p.Pro91fs)
|
rs2082692417
|
|
NM_000487.6(ARSA):c.295dup (p.Arg99fs)
|
rs1555901056
|
|
NM_000487.6(ARSA):c.302G>A (p.Gly101Asp)
|
rs74315455
|
|
NM_000487.6(ARSA):c.302G>T (p.Gly101Val)
|
rs74315455
|
|
NM_000487.6(ARSA):c.302_303delinsTT (p.Gly101Val)
|
rs2146726223
|
|
NM_000487.6(ARSA):c.302del (p.Gly101fs)
|
rs761606317
|
|
NM_000487.6(ARSA):c.302dup (p.Leu102fs)
|
rs761606317
|
|
NM_000487.6(ARSA):c.304del (p.Leu102fs)
|
rs786204673
|
|
NM_000487.6(ARSA):c.311del (p.Leu104fs)
|
|
|
NM_000487.6(ARSA):c.349_350dup (p.Tyr118fs)
|
|
|
NM_000487.6(ARSA):c.34del (p.Ala12fs)
|
rs398123415
|
|
NM_000487.6(ARSA):c.371G>A (p.Gly124Asp)
|
rs2082689435
|
|
NM_000487.6(ARSA):c.374A>C (p.Lys125Thr)
|
|
|
NM_000487.6(ARSA):c.393_425del (p.Pro132_Gly142del)
|
rs2146725299
|
|
NM_000487.6(ARSA):c.412C>A (p.Pro138Thr)
|
|
|
NM_000487.6(ARSA):c.412C>T (p.Pro138Ser)
|
rs60504011
|
|
NM_000487.6(ARSA):c.413C>T (p.Pro138Leu)
|
rs74315462
|
|
NM_000487.6(ARSA):c.418C>G (p.His140Asp)
|
rs199476358
|
|
NM_000487.6(ARSA):c.418del (p.His140fs)
|
rs745884435
|
|
NM_000487.6(ARSA):c.418dup (p.His140fs)
|
rs745884435
|
|
NM_000487.6(ARSA):c.422del (p.Gln141fs)
|
|
|
NM_000487.6(ARSA):c.427T>C (p.Phe143Leu)
|
|
|
NM_000487.6(ARSA):c.449C>G (p.Pro150Arg)
|
rs199476375
|
|
NM_000487.6(ARSA):c.449C>T (p.Pro150Leu)
|
rs199476375
|
|
NM_000487.6(ARSA):c.451dup (p.Tyr151fs)
|
rs2082687168
|
|
NM_000487.6(ARSA):c.466-4_482del
|
|
|
NM_000487.6(ARSA):c.467G>A (p.Gly156Asp)
|
rs74315463
|
|
NM_000487.6(ARSA):c.475C>T (p.Gln159Ter)
|
|
|
NM_000487.6(ARSA):c.488G>C (p.Cys163Ser)
|
rs1430695346
|
|
NM_000487.6(ARSA):c.495_501del (p.Pro166fs)
|
rs1057517429
|
|
NM_000487.6(ARSA):c.506C>G (p.Pro169Arg)
|
rs74315465
|
|
NM_000487.6(ARSA):c.514G>T (p.Gly172Cys)
|
|
|
NM_000487.6(ARSA):c.536del (p.Val179fs)
|
|
|
NM_000487.6(ARSA):c.545C>G (p.Pro182Arg)
|
rs1135401755
|
|
NM_000487.6(ARSA):c.545del (p.Pro182fs)
|
rs1057516907
|
|
NM_000487.6(ARSA):c.574C>T (p.Gln192Ter)
|
|
|
NM_000487.6(ARSA):c.581C>G (p.Pro194Arg)
|
rs769492279
|
|
NM_000487.6(ARSA):c.582del (p.Trp195fs)
|
rs2082680996
|
|
NM_000487.6(ARSA):c.582dup (p.Trp195fs)
|
rs2082680996
|
|
NM_000487.6(ARSA):c.583del (p.Trp195fs)
|
rs398123416
|
|
NM_000487.6(ARSA):c.584G>A (p.Trp195Ter)
|
|
|
NM_000487.6(ARSA):c.607T>C (p.Tyr203His)
|
rs2082680103
|
|
NM_000487.6(ARSA):c.617dup (p.Ala207fs)
|
rs2146723372
|
|
NM_000487.6(ARSA):c.61del (p.Arg21fs)
|
|
|
NM_000487.6(ARSA):c.622del (p.His208fs)
|
rs1555900900
|
|
NM_000487.6(ARSA):c.629T>C (p.Leu210Pro)
|
|
|
NM_000487.6(ARSA):c.640G>C (p.Ala214Pro)
|
rs199476341
|
|
NM_000487.6(ARSA):c.645_660dup (p.Phe221fs)
|
|
|
NM_000487.6(ARSA):c.685-1G>A
|
rs2082676596
|
|
NM_000487.6(ARSA):c.685-2A>G
|
rs1490196552
|
|
NM_000487.6(ARSA):c.697C>A (p.Pro233Thr)
|
rs74315469
|
|
NM_000487.6(ARSA):c.700C>T (p.Gln234Ter)
|
rs2082676249
|
|
NM_000487.6(ARSA):c.712C>T (p.Gln238Ter)
|
rs751026400
|
|
NM_000487.6(ARSA):c.724G>T (p.Glu242Ter)
|
rs757891932
|
|
NM_000487.6(ARSA):c.731C>A (p.Ser244Ter)
|
rs1394861740
|
|
NM_000487.6(ARSA):c.737_744dup (p.Phe249fs)
|
|
|
NM_000487.6(ARSA):c.739G>A (p.Gly247Arg)
|
rs74315471
|
|
NM_000487.6(ARSA):c.755C>A (p.Ser252Tyr)
|
rs199476367
|
|
NM_000487.6(ARSA):c.758dup (p.Met254fs)
|
rs74315270
|
|
NM_000487.6(ARSA):c.763G>A (p.Glu255Lys)
|
rs74315483
|
|
NM_000487.6(ARSA):c.836_837delinsAA (p.Ile279Lys)
|
rs2082673250
|
|
NM_000487.6(ARSA):c.842C>T (p.Thr281Ile)
|
rs966673017
|
|
NM_000487.6(ARSA):c.851A>G (p.Asn284Ser)
|
rs199476342
|
|
NM_000487.6(ARSA):c.852T>A (p.Asn284Lys)
|
rs1135401756
|
|
NM_000487.6(ARSA):c.854+1G>A
|
rs886041911
|
|
NM_000487.6(ARSA):c.854+1G>T
|
rs886041911
|
|
NM_000487.6(ARSA):c.855-24_907del
|
|
|
NM_000487.6(ARSA):c.862A>C (p.Thr288Pro)
|
rs28940894
|
|
NM_000487.6(ARSA):c.868_873del (p.Arg290_Met291del)
|
|
|
NM_000487.6(ARSA):c.877C>T (p.Arg293Ter)
|
rs1555900678
|
|
NM_000487.6(ARSA):c.884G>A (p.Gly295Asp)
|
rs199476387
|
|
NM_000487.6(ARSA):c.890C>A (p.Ser297Tyr)
|
rs74315474
|
|
NM_000487.6(ARSA):c.891_895del (p.Gly298fs)
|
|
|
NM_000487.6(ARSA):c.901C>G (p.Arg301Gly)
|
rs794727704
|
|
NM_000487.6(ARSA):c.905G>A (p.Cys302Tyr)
|
rs74315484
|
|
NM_000487.6(ARSA):c.907G>A (p.Gly303Arg)
|
|
|
NM_000487.6(ARSA):c.917C>T (p.Thr306Met)
|
rs199476359
|
|
NM_000487.6(ARSA):c.922T>C (p.Tyr308His)
|
rs199476379
|
|
NM_000487.6(ARSA):c.925G>T (p.Glu309Ter)
|
rs199476360
|
|
NM_000487.6(ARSA):c.929G>A (p.Gly310Asp)
|
rs199476356
|
|
NM_000487.6(ARSA):c.929G>T (p.Gly310Val)
|
rs199476356
|
|
NM_000487.6(ARSA):c.929del (p.Gly310fs)
|
rs1057516638
|
|
NM_000487.6(ARSA):c.937C>T (p.Arg313Ter)
|
rs551472773
|
|
NM_000487.6(ARSA):c.93C>G (p.Asp31Glu)
|
|
|
NM_000487.6(ARSA):c.946G>A (p.Ala316Thr)
|
rs199476368
|
|
NM_000487.6(ARSA):c.955_956insGCCTTGAT (p.Phe319fs)
|
|
|
NM_000487.6(ARSA):c.956_958del (p.Phe319del)
|
rs2082663514
|
|
NM_000487.6(ARSA):c.970A>T (p.Ile324Phe)
|
|
|
NM_000487.6(ARSA):c.979+1G>A
|
rs754722529
|
|
NM_000487.6(ARSA):c.986C>T (p.Thr329Ile)
|
rs398123418
|
|
NM_000487.6(ARSA):c.98T>C (p.Leu33Pro)
|
rs1135401754
|
|
NM_000487.6(ARSA):c.991G>T (p.Glu331Ter)
|
rs398123419
|
|