NM_015570.4(AUTS2):c.2309-10A>G
|
rs2293500
|
0.77959
|
NM_015570.4(AUTS2):c.2531+171A>G
|
rs2293497
|
0.76465
|
NM_015570.4(AUTS2):c.2532-188A>G
|
rs3750172
|
0.76114
|
NM_015570.4(AUTS2):c.2309-272G>A
|
rs2293501
|
0.68479
|
NM_015570.4(AUTS2):c.2005-306C>T
|
rs6460559
|
0.66083
|
NM_015570.4(AUTS2):c.2532-60G>T
|
rs941346
|
0.60421
|
NM_015570.4(AUTS2):c.2224+120T>C
|
rs2293503
|
0.55995
|
NM_015570.4(AUTS2):c.1469-195G>C
|
rs6959459
|
0.50112
|
NM_015570.4(AUTS2):c.1469-306C>T
|
rs6960426
|
0.50061
|
NM_015570.4(AUTS2):c.1468+302C>T
|
rs6955943
|
0.50059
|
NM_015570.4(AUTS2):c.2146+156G>T
|
rs951392
|
0.36625
|
NM_015570.4(AUTS2):c.661-144997G>A
|
rs2280613
|
0.34867
|
NM_015570.4(AUTS2):c.1831-156G>C
|
rs55838430
|
0.34616
|
NM_015570.4(AUTS2):c.2147-221G>C
|
rs9886083
|
0.19005
|
NM_015570.4(AUTS2):c.2147-20C>T
|
rs2293504
|
0.16618
|
NM_015570.4(AUTS2):c.1734+215G>A
|
rs3829006
|
0.15266
|
NM_015570.4(AUTS2):c.1734+85G>A
|
rs3750170
|
0.15210
|
NM_015570.4(AUTS2):c.1469-30C>T
|
rs2293509
|
0.15054
|
NM_015570.4(AUTS2):c.-3A>G
|
rs3735260
|
0.13031
|
NM_015570.4(AUTS2):c.1735-89T>A
|
rs73170214
|
0.11053
|
NM_015570.4(AUTS2):c.743-54T>C
|
rs12698935
|
0.09636
|
NM_015570.4(AUTS2):c.1026A>G (p.Pro342=)
|
rs2293508
|
0.09436
|
NM_015570.4(AUTS2):c.1215-23T>C
|
rs67892322
|
0.08936
|
NM_015570.4(AUTS2):c.1830+157T>C
|
rs2293505
|
0.08174
|
NM_015570.4(AUTS2):c.2005-230C>A
|
rs59181472
|
0.06886
|
NM_015570.4(AUTS2):c.*213C>T
|
rs12698938
|
0.06330
|
NM_015570.4(AUTS2):c.1830+259T>C
|
rs7783578
|
0.05641
|
NM_015570.4(AUTS2):c.691-199_691-198insA
|
rs60691934
|
0.05063
|
NM_015570.4(AUTS2):c.1903-99A>G
|
rs75916693
|
0.04666
|
NM_015570.4(AUTS2):c.1690-263A>G
|
rs117171402
|
0.04519
|
NM_015570.4(AUTS2):c.661-270C>T
|
rs17141604
|
0.03607
|
NM_015570.4(AUTS2):c.2225-67A>G
|
rs10233246
|
0.03196
|
NM_015570.4(AUTS2):c.2225-228A>G
|
rs28538425
|
0.03193
|
NM_015570.4(AUTS2):c.2147-168C>A
|
rs9886311
|
0.02508
|
NM_015570.4(AUTS2):c.2531+179T>C
|
rs61424087
|
0.02486
|
NM_015570.4(AUTS2):c.1689+167T>G
|
rs10256875
|
0.01888
|
NM_015570.4(AUTS2):c.2146+84G>A
|
rs28660526
|
0.01877
|
NM_015570.4(AUTS2):c.1689+155C>T
|
rs115745300
|
0.01744
|
NM_015570.4(AUTS2):c.1689+227G>A
|
rs115121638
|
0.01635
|
NM_015570.4(AUTS2):c.2532-157G>C
|
rs115071349
|
0.01629
|
NM_015570.4(AUTS2):c.2308+244A>G
|
rs73704812
|
0.01592
|
NM_015570.4(AUTS2):c.3690C>G (p.Arg1230=)
|
rs61732289
|
0.01333
|
NM_015570.4(AUTS2):c.2913C>T (p.Tyr971=)
|
rs113194983
|
0.01209
|
NM_015570.4(AUTS2):c.2055G>A (p.Glu685=)
|
rs61729701
|
0.01058
|
NM_015570.4(AUTS2):c.1062G>A (p.Pro354=)
|
rs75092237
|
0.00666
|
NM_015570.4(AUTS2):c.2784C>T (p.Ala928=)
|
rs79439293
|
0.00558
|
NM_015570.4(AUTS2):c.1632G>A (p.Thr544=)
|
rs41272930
|
0.00485
|
NM_015570.4(AUTS2):c.11C>T (p.Pro4Leu)
|
rs200189077
|
0.00301
|
NM_015570.4(AUTS2):c.661-47A>G
|
rs143517758
|
0.00242
|
NM_015570.4(AUTS2):c.2820G>C (p.Pro940=)
|
rs148406339
|
0.00166
|
NM_015570.4(AUTS2):c.611A>G (p.Glu204Gly)
|
rs149961458
|
0.00140
|
NM_015570.4(AUTS2):c.2309-48T>C
|
rs181817804
|
0.00130
|
NM_015570.4(AUTS2):c.1464C>T (p.Tyr488=)
|
rs143055091
|
0.00129
|
NM_015570.4(AUTS2):c.865A>G (p.Ile289Val)
|
rs148610030
|
0.00102
|
NM_015570.4(AUTS2):c.385C>G (p.Leu129Val)
|
rs145480547
|
0.00098
|
NM_015570.4(AUTS2):c.2586G>A (p.Pro862=)
|
rs3750174
|
0.00093
|
NM_015570.4(AUTS2):c.661-145427A>T
|
rs138159000
|
0.00081
|
NM_015570.4(AUTS2):c.3754A>G (p.Thr1252Ala)
|
rs138087196
|
0.00063
|
NM_015570.4(AUTS2):c.2664C>T (p.Asp888=)
|
rs146682239
|
0.00062
|
NM_015570.4(AUTS2):c.349C>T (p.Arg117Cys)
|
rs142957106
|
0.00062
|
NM_015570.4(AUTS2):c.1659C>T (p.Thr553=)
|
rs146990635
|
0.00051
|
NM_015570.4(AUTS2):c.2004+16G>A
|
rs139000384
|
0.00043
|
NM_015570.4(AUTS2):c.2397G>A (p.Thr799=)
|
rs140914046
|
0.00037
|
NM_015570.4(AUTS2):c.1551G>A (p.Pro517=)
|
rs76384598
|
0.00034
|
NM_015570.4(AUTS2):c.581C>T (p.Ser194Phe)
|
rs150765660
|
0.00031
|
NM_015570.4(AUTS2):c.1735-15C>T
|
rs200297913
|
0.00029
|
NM_015570.4(AUTS2):c.2702G>A (p.Arg901His)
|
rs138775036
|
0.00028
|
NM_015570.4(AUTS2):c.2241G>A (p.Pro747=)
|
rs143340591
|
0.00026
|
NM_015570.4(AUTS2):c.1827G>A (p.Pro609=)
|
rs146043752
|
0.00022
|
NM_015570.4(AUTS2):c.3776G>A (p.Arg1259Gln)
|
rs148604002
|
0.00022
|
NM_015570.4(AUTS2):c.3330C>T (p.Tyr1110=)
|
rs141714268
|
0.00017
|
NM_015570.4(AUTS2):c.2978C>T (p.Pro993Leu)
|
rs150548501
|
0.00016
|
NM_015570.4(AUTS2):c.3015G>A (p.Pro1005=)
|
rs373113343
|
0.00016
|
NM_015570.4(AUTS2):c.540C>T (p.Asn180=)
|
rs372406859
|
0.00016
|
NM_015570.4(AUTS2):c.1025C>T (p.Pro342Leu)
|
rs150891487
|
0.00014
|
NM_015570.4(AUTS2):c.3555C>G (p.Ile1185Met)
|
rs202093848
|
0.00011
|
NM_015570.4(AUTS2):c.3723C>T (p.Ser1241=)
|
rs146275033
|
0.00011
|
NM_015570.4(AUTS2):c.723C>T (p.Asn241=)
|
rs182043086
|
0.00009
|
NM_015570.4(AUTS2):c.2553C>G (p.His851Gln)
|
rs201055436
|
0.00007
|
NM_015570.4(AUTS2):c.1774C>G (p.Pro592Ala)
|
rs199756061
|
0.00006
|
NM_015570.4(AUTS2):c.2538C>T (p.Ser846=)
|
rs145994529
|
0.00006
|
NM_015570.4(AUTS2):c.979C>T (p.Arg327Cys)
|
rs141599415
|
0.00006
|
NM_015570.4(AUTS2):c.1717C>T (p.Pro573Ser)
|
rs1051952947
|
0.00005
|
NM_015570.4(AUTS2):c.3186G>A (p.Pro1062=)
|
rs369519062
|
0.00004
|
NM_015570.4(AUTS2):c.947G>A (p.Arg316Gln)
|
rs772514731
|
0.00004
|
NM_015570.4(AUTS2):c.1264A>G (p.Ile422Val)
|
rs376584055
|
0.00003
|
NM_015570.4(AUTS2):c.2066G>A (p.Arg689His)
|
rs769690050
|
0.00003
|
NM_015570.4(AUTS2):c.1389C>T (p.Pro463=)
|
rs760653347
|
0.00002
|
NM_015570.4(AUTS2):c.1566C>T (p.Thr522=)
|
rs560203960
|
0.00002
|
NM_015570.4(AUTS2):c.3298C>G (p.Pro1100Ala)
|
rs763284520
|
0.00001
|
NM_015570.4(AUTS2):c.942A>G (p.Gln314=)
|
rs550466174
|
0.00001
|
GRCh37/hg19 7q11.22(chr7:69821999-69841344)x1
|
|
|
GRCh37/hg19 7q11.22(chr7:70196953-70202993)x1
|
|
|
NM_015570.4(AUTS2):c.-1018GGC[7]
|
rs572172462
|
|
NM_015570.4(AUTS2):c.1041G>A (p.Glu347=)
|
|
|
NM_015570.4(AUTS2):c.1084C>T (p.Pro362Ser)
|
|
|
NM_015570.4(AUTS2):c.1089G>T (p.Arg363Ser)
|
|
|
NM_015570.4(AUTS2):c.1178C>T (p.Ala393Val)
|
|
|
NM_015570.4(AUTS2):c.1214+241C>T
|
rs77094103
|
|
NM_015570.4(AUTS2):c.1215-143T>G
|
rs1983487
|
|
NM_015570.4(AUTS2):c.1252G>A (p.Ala418Thr)
|
|
|
NM_015570.4(AUTS2):c.1271A>G (p.His424Arg)
|
|
|
NM_015570.4(AUTS2):c.1373A>G (p.Asn458Ser)
|
|
|
NM_015570.4(AUTS2):c.1468+14del
|
|
|
NM_015570.4(AUTS2):c.1468+23C>A
|
rs116591851
|
|
NM_015570.4(AUTS2):c.1468+4G>T
|
|
|
NM_015570.4(AUTS2):c.1468+8G>A
|
|
|
NM_015570.4(AUTS2):c.1469-16TCT[2]
|
|
|
NM_015570.4(AUTS2):c.1469-237G>A
|
rs6959436
|
|
NM_015570.4(AUTS2):c.1562G>A (p.Arg521Gln)
|
|
|
NM_015570.4(AUTS2):c.1689+329A>G
|
rs2178045
|
|
NM_015570.4(AUTS2):c.1734+308_1734+309del
|
rs140803146
|
|
NM_015570.4(AUTS2):c.1777A>G (p.Met593Val)
|
|
|
NM_015570.4(AUTS2):c.188C>T (p.Pro63Leu)
|
|
|
NM_015570.4(AUTS2):c.1898C>T (p.Pro633Leu)
|
|
|
NM_015570.4(AUTS2):c.1932+14T>C
|
|
|
NM_015570.4(AUTS2):c.1932+206dup
|
rs3215360
|
|
NM_015570.4(AUTS2):c.1999G>A (p.Val667Ile)
|
|
|
NM_015570.4(AUTS2):c.2005-231del
|
rs756708435
|
|
NM_015570.4(AUTS2):c.2005-231dup
|
rs756708435
|
|
NM_015570.4(AUTS2):c.2005-251C>A
|
rs1336506291
|
|
NM_015570.4(AUTS2):c.2097C>T (p.Ile699=)
|
|
|
NM_015570.4(AUTS2):c.2146+170T>G
|
rs951391
|
|
NM_015570.4(AUTS2):c.2146+19G>C
|
rs181170806
|
|
NM_015570.4(AUTS2):c.2146+24del
|
|
|
NM_015570.4(AUTS2):c.2147-169del
|
rs71077682
|
|
NM_015570.4(AUTS2):c.2147-172_2147-167del
|
rs553945769
|
|
NM_015570.4(AUTS2):c.2147-175_2147-169del
|
rs71077682
|
|
NM_015570.4(AUTS2):c.2147-177_2147-169del
|
rs71077682
|
|
NM_015570.4(AUTS2):c.2147-178_2147-169del
|
rs71077682
|
|
NM_015570.4(AUTS2):c.2147-60G>A
|
rs3817575
|
|
NM_015570.4(AUTS2):c.2149G>A (p.Ala717Thr)
|
|
|
NM_015570.4(AUTS2):c.2168C>T (p.Thr723Ile)
|
|
|
NM_015570.4(AUTS2):c.2225-15C>T
|
|
|
NM_015570.4(AUTS2):c.2308+93_2308+94del
|
rs35360940
|
|
NM_015570.4(AUTS2):c.2309-196del
|
rs59473239
|
|
NM_015570.4(AUTS2):c.2531+16G>T
|
rs368191722
|
|
NM_015570.4(AUTS2):c.2531+228G>A
|
rs2293496
|
|
NM_015570.4(AUTS2):c.2531+6del
|
|
|
NM_015570.4(AUTS2):c.2531+7A>T
|
|
|
NM_015570.4(AUTS2):c.2552A>C (p.His851Pro)
|
|
|
NM_015570.4(AUTS2):c.2563C>G (p.Pro855Ala)
|
|
|
NM_015570.4(AUTS2):c.2579T>C (p.Val860Ala)
|
|
|
NM_015570.4(AUTS2):c.2664C>G (p.Asp888Glu)
|
|
|
NM_015570.4(AUTS2):c.2751C>T (p.Pro917=)
|
|
|
NM_015570.4(AUTS2):c.2772C>T (p.His924=)
|
|
|
NM_015570.4(AUTS2):c.2807T>C (p.Leu936Pro)
|
|
|
NM_015570.4(AUTS2):c.2852G>A (p.Ser951Asn)
|
|
|
NM_015570.4(AUTS2):c.2862C>T (p.Pro954=)
|
|
|
NM_015570.4(AUTS2):c.2873C>G (p.Ser958Trp)
|
|
|
NM_015570.4(AUTS2):c.2894G>C (p.Arg965Pro)
|
|
|
NM_015570.4(AUTS2):c.2952G>A (p.Glu984=)
|
|
|
NM_015570.4(AUTS2):c.3017C>T (p.Pro1006Leu)
|
|
|
NM_015570.4(AUTS2):c.3032C>T (p.Ser1011Leu)
|
|
|
NM_015570.4(AUTS2):c.3074C>T (p.Thr1025Met)
|
|
|
NM_015570.4(AUTS2):c.309+16del
|
rs139318711
|
|
NM_015570.4(AUTS2):c.309+92CTGT[7]
|
rs113411804
|
|
NM_015570.4(AUTS2):c.309+92CTGT[9]
|
rs113411804
|
|
NM_015570.4(AUTS2):c.319G>A (p.Ala107Thr)
|
|
|
NM_015570.4(AUTS2):c.3299C>A (p.Pro1100Gln)
|
|
|
NM_015570.4(AUTS2):c.3346T>C (p.Phe1116Leu)
|
|
|
NM_015570.4(AUTS2):c.3377ACC[10] (p.His1132_His1133dup)
|
rs538005366
|
|
NM_015570.4(AUTS2):c.3377ACC[5] (p.His1131_His1133del)
|
rs538005366
|
|
NM_015570.4(AUTS2):c.3377ACC[7] (p.His1133del)
|
rs538005366
|
|
NM_015570.4(AUTS2):c.3377ACC[9] (p.His1133dup)
|
rs538005366
|
|
NM_015570.4(AUTS2):c.3398A>C (p.His1133Pro)
|
|
|
NM_015570.4(AUTS2):c.3434G>A (p.Arg1145Gln)
|
|
|
NM_015570.4(AUTS2):c.3434G>C (p.Arg1145Pro)
|
|
|
NM_015570.4(AUTS2):c.3436G>A (p.Gly1146Arg)
|
|
|
NM_015570.4(AUTS2):c.3437G>A (p.Gly1146Glu)
|
|
|
NM_015570.4(AUTS2):c.3437G>C (p.Gly1146Ala)
|
|
|
NM_015570.4(AUTS2):c.3437G>T (p.Gly1146Val)
|
rs150926322
|
|
NM_015570.4(AUTS2):c.3548G>A (p.Ser1183Asn)
|
rs565725329
|
|
NM_015570.4(AUTS2):c.355A>T (p.Thr119Ser)
|
|
|
NM_015570.4(AUTS2):c.356C>T (p.Thr119Met)
|
|
|
NM_015570.4(AUTS2):c.3633C>G (p.Thr1211=)
|
rs145677084
|
|
NM_015570.4(AUTS2):c.507G>A (p.Pro169=)
|
|
|
NM_015570.4(AUTS2):c.525C>T (p.Leu175=)
|
|
|
NM_015570.4(AUTS2):c.624+32_624+34del
|
rs11418386
|
|
NM_015570.4(AUTS2):c.624+33_624+34del
|
rs11418386
|
|
NM_015570.4(AUTS2):c.624+34del
|
rs11418386
|
|
NM_015570.4(AUTS2):c.624+34dup
|
rs11418386
|
|
NM_015570.4(AUTS2):c.661-4del
|
rs1189205999
|
|
NM_015570.4(AUTS2):c.690+13del
|
|
|
NM_015570.4(AUTS2):c.690+13dup
|
rs561727718
|
|
NM_015570.4(AUTS2):c.690+19dup
|
|
|
NM_015570.4(AUTS2):c.690+9C>T
|
|
|
NM_015570.4(AUTS2):c.691-15dup
|
|
|
NM_015570.4(AUTS2):c.703A>G (p.Ser235Gly)
|
|
|
NM_015570.4(AUTS2):c.742+174_742+179del
|
rs142137861
|
|
NM_015570.4(AUTS2):c.765G>A (p.Thr255=)
|
|
|
NM_015570.4(AUTS2):c.907G>T (p.Ala303Ser)
|
rs2293507
|
|
NM_015570.4(AUTS2):c.921C>T (p.Pro307=)
|
rs2129556968
|
|