NM_000046.4(ARSB):c.-302A>G
|
rs163127
|
0.94480
|
NM_000046.3(ARSB):c.-1178A>G
|
rs163126
|
0.84841
|
NM_000046.3(ARSB):c.-1599C>T
|
rs163125
|
0.81524
|
NM_000046.5(ARSB):c.1142+233C>T
|
rs10039384
|
0.56882
|
NM_000046.5(ARSB):c.899-200A>G
|
rs180049
|
0.39294
|
NM_000046.5(ARSB):c.1143-27A>C
|
rs25415
|
0.35324
|
NM_000046.5(ARSB):c.1072G>A (p.Val358Met)
|
rs1065757
|
0.34419
|
NM_000046.5(ARSB):c.313-26T>C
|
rs3733895
|
0.30072
|
NM_000046.5(ARSB):c.1191G>A (p.Pro397=)
|
rs25413
|
0.27041
|
NM_000046.5(ARSB):c.499+145G>C
|
rs61216659
|
0.26932
|
NM_000046.5(ARSB):c.499+160A>G
|
rs55882246
|
0.26930
|
NM_000046.5(ARSB):c.690+271T>G
|
rs7730261
|
0.26909
|
NM_000046.5(ARSB):c.313-81G>A
|
rs918580
|
0.26854
|
NM_000046.5(ARSB):c.313-77G>A
|
rs918581
|
0.16622
|
NM_000046.3(ARSB):c.-564A>G
|
rs59558132
|
0.16591
|
NM_000046.3(ARSB):c.-958A>G
|
rs57586329
|
0.15967
|
NM_000046.5(ARSB):c.1213+23505T>C
|
rs34152768
|
0.15647
|
NM_000046.5(ARSB):c.691-22T>C
|
rs6870443
|
0.13972
|
NM_000046.5(ARSB):c.1142+138C>T
|
rs79555942
|
0.13548
|
NM_000046.5(ARSB):c.691-186G>A
|
rs11749494
|
0.13366
|
NM_000046.5(ARSB):c.1126G>A (p.Val376Met)
|
rs1071598
|
0.12316
|
NM_000046.5(ARSB):c.500-229G>A
|
rs10514114
|
0.09305
|
NM_000046.5(ARSB):c.1337-32C>G
|
rs3822473
|
0.07755
|
NM_000046.5(ARSB):c.1214-32T>C
|
rs7721866
|
0.07298
|
NM_000046.5(ARSB):c.972A>G (p.Gly324=)
|
rs72762973
|
0.05483
|
NM_000046.5(ARSB):c.1362G>A (p.Pro454=)
|
rs35757003
|
0.04998
|
NM_000046.5(ARSB):c.1337-217C>T
|
rs57088170
|
0.04993
|
NM_000046.5(ARSB):c.1151G>A (p.Ser384Asn)
|
rs25414
|
0.03947
|
NM_000046.5(ARSB):c.*60G>A
|
rs2173012
|
0.03683
|
NM_000046.5(ARSB):c.*202A>G
|
rs73770019
|
0.03289
|
NM_000046.5(ARSB):c.1213+23022G>T
|
rs79156343
|
0.03179
|
NM_000046.4(ARSB):c.-265G>A
|
rs72764913
|
0.02482
|
NM_000046.5(ARSB):c.1213+149C>G
|
rs73124605
|
0.02180
|
NM_000046.5(ARSB):c.1213+22974C>T
|
rs115179157
|
0.01617
|
NM_000046.5(ARSB):c.1068A>T (p.Thr356=)
|
rs16876029
|
0.00947
|
NC_000005.10:g.78986791G>A
|
rs139096530
|
0.00836
|
NM_000046.5(ARSB):c.1143-263A>G
|
rs10044381
|
0.00671
|
NM_000046.4(ARSB):c.-246C>T
|
rs180784385
|
0.00598
|
NM_000046.5(ARSB):c.*1635G>A
|
rs35597782
|
0.00552
|
NM_000046.5(ARSB):c.*2408A>G
|
rs13354324
|
0.00491
|
NM_000046.5(ARSB):c.317G>A (p.Arg106His)
|
rs150087888
|
0.00230
|
NM_000046.5(ARSB):c.903C>T (p.Asn301=)
|
rs147495977
|
0.00106
|
NM_000046.5(ARSB):c.1078C>T (p.Leu360=)
|
rs140923667
|
0.00088
|
NM_000046.5(ARSB):c.406G>A (p.Ala136Thr)
|
rs146704780
|
0.00045
|
NM_000046.5(ARSB):c.1123G>A (p.Asp375Asn)
|
rs200040980
|
0.00039
|
NM_000046.5(ARSB):c.629A>G (p.Tyr210Cys)
|
rs118203943
|
0.00017
|
NM_000046.5(ARSB):c.1159C>T (p.Pro387Ser)
|
rs145553034
|
0.00016
|
NM_000046.5(ARSB):c.647C>T (p.Thr216Ile)
|
rs200364654
|
0.00013
|
NM_000046.5(ARSB):c.1197C>T (p.Phe399=)
|
rs200793396
|
0.00012
|
NM_000046.5(ARSB):c.914C>T (p.Thr305Ile)
|
rs199931771
|
0.00010
|
NM_000046.5(ARSB):c.454C>T (p.Arg152Trp)
|
rs991104525
|
0.00008
|
NM_000046.5(ARSB):c.1178A>C (p.His393Pro)
|
rs118203944
|
0.00004
|
NM_000046.5(ARSB):c.971G>T (p.Gly324Val)
|
rs398123125
|
0.00004
|
NM_000046.5(ARSB):c.1336+2T>G
|
rs768012515
|
0.00003
|
NM_000046.5(ARSB):c.1214G>A (p.Cys405Tyr)
|
rs118203941
|
0.00002
|
NM_000046.5(ARSB):c.1350G>C (p.Trp450Cys)
|
rs555785323
|
0.00001
|
NM_000046.5(ARSB):c.1449A>T (p.Glu483Asp)
|
rs1064793027
|
0.00001
|
NM_000046.5(ARSB):c.571C>T (p.Arg191Ter)
|
rs371886102
|
0.00001
|
NM_000046.5(ARSB):c.934T>C (p.Trp312Arg)
|
rs398123124
|
0.00001
|
NM_000046.5(ARSB):c.944G>A (p.Arg315Gln)
|
rs727503809
|
0.00001
|
GRCh37/hg19 5q14.1(chr5:78106062-78111731)x1
|
|
|
GRCh37/hg19 5q14.1(chr5:78106062-78115511)x1
|
|
|
GRCh37/hg19 5q14.1(chr5:78110117-78111731)x1
|
|
|
GRCh37/hg19 5q14.1(chr5:78110117-78115511)x1
|
|
|
GRCh37/hg19 5q14.1(chr5:78110117-78150147)x1
|
|
|
GRCh37/hg19 5q14.1(chr5:78110117-78180736)x1
|
|
|
GRCh37/hg19 5q14.1(chr5:78152436-78247936)x3
|
|
|
GRCh37/hg19 5q14.1(chr5:78153325-78246593)x3
|
|
|
GRCh37/hg19 5q14.1(chr5:78153325-78250133)x3
|
|
|
GRCh37/hg19 5q14.1(chr5:78170166-78247951)x3
|
|
|
GRCh37/hg19 5q14.1(chr5:78280531-78280745)x4
|
|
|
GRCh37/hg19 5q14.1(chr5:78280531-78281153)x1
|
|
|
GRCh37/hg19 5q14.1(chr5:78280531-78281245)x4
|
|
|
GRCh37/hg19 5q14.1(chr5:78280531-78287810)x0
|
|
|
GRCh37/hg19 5q14.1(chr5:78280531-78292577)x1
|
|
|
NM_000046.4(ARSB):c.-322dup
|
rs11424557
|
|
NM_000046.4(ARSB):c.-410_-407delCTAA
|
rs151289643
|
|
NM_000046.5(ARSB):c.1052C>T (p.Ser351Phe)
|
rs756671977
|
|
NM_000046.5(ARSB):c.1213+210_1213+212del
|
rs144799820
|
|
NM_000046.5(ARSB):c.1325C>T (p.Thr442Met)
|
rs1057520739
|
|
NM_000046.5(ARSB):c.1404A>C (p.Pro468=)
|
rs1580961280
|
|
NM_000046.5(ARSB):c.1577del (p.Thr526fs)
|
rs1554069660
|
|
NM_000046.5(ARSB):c.1590C>A (p.Gly530=)
|
rs1580960941
|
|
NM_000046.5(ARSB):c.313-286del
|
rs34055862
|
|
NM_000046.5(ARSB):c.317G>C (p.Arg106Pro)
|
rs150087888
|
|
NM_000046.5(ARSB):c.500-251del
|
rs3839268
|
|
NM_000046.5(ARSB):c.500-255A>T
|
rs338465
|
|
NM_000046.5(ARSB):c.645C>T (p.Phe215=)
|
|
|
NM_000046.5(ARSB):c.690+136A>G
|
rs78134348
|
|
NM_000046.5(ARSB):c.691-171_691-168del
|
rs58376189
|
|
NM_000046.5(ARSB):c.753C>G (p.Tyr251Ter)
|
rs765711776
|
|
NM_000046.5(ARSB):c.785dup (p.Asn262fs)
|
rs749015246
|
|
NM_000046.5(ARSB):c.880G>A (p.Val294Met)
|
|
|
NM_000046.5(ARSB):c.899-10T>G
|
rs727503810
|
|
NM_000046.5(ARSB):c.960C>G (p.Ser320Arg)
|
rs762614315
|
|
NM_000046.5(ARSB):c.962T>C (p.Leu321Pro)
|
rs1554079320
|
|