NM_001134831.2(AHI1):c.1780-14C>T
|
rs2757645
|
0.81825
|
NM_001134831.2(AHI1):c.3426+13G>A
|
rs6914831
|
0.59084
|
NM_001134831.2(AHI1):c.3485+38G>C
|
rs4896141
|
0.23072
|
NM_001134831.2(AHI1):c.3165+42G>C
|
rs7772864
|
0.06222
|
NM_001134831.2(AHI1):c.2223T>C (p.Asp741=)
|
rs2273761
|
0.02399
|
NM_001134831.2(AHI1):c.2488C>T (p.Arg830Trp)
|
rs13312995
|
0.02035
|
NM_001134831.2(AHI1):c.1780-47C>T
|
rs17053651
|
0.01944
|
NM_001134831.2(AHI1):c.3053A>C (p.Gln1018Pro)
|
rs6940875
|
0.01691
|
NM_001134831.2(AHI1):c.3015A>G (p.Ser1005=)
|
rs41287054
|
0.01682
|
NM_001134831.2(AHI1):c.2624-6A>G
|
rs41288015
|
0.01635
|
NM_001134831.2(AHI1):c.1152-11T>G
|
rs113317693
|
0.01324
|
NM_001134831.2(AHI1):c.804A>C (p.Ser268=)
|
rs35528530
|
0.01078
|
NM_001134831.2(AHI1):c.1643G>A (p.Arg548His)
|
rs35433555
|
0.01070
|
NM_001134831.2(AHI1):c.2962-16A>G
|
rs41287056
|
0.00707
|
NM_001134831.2(AHI1):c.3579T>C (p.Thr1193=)
|
rs115338154
|
0.00537
|
NM_001134831.2(AHI1):c.3368C>T (p.Ser1123Phe)
|
rs117447608
|
0.00497
|
NM_001134831.2(AHI1):c.932-10A>G
|
rs114319588
|
0.00468
|
NM_001134831.2(AHI1):c.2798A>G (p.Tyr933Cys)
|
rs41288013
|
0.00466
|
NM_001134831.2(AHI1):c.2916T>G (p.Ser972=)
|
rs140280929
|
0.00451
|
NM_001134831.2(AHI1):c.2623+33G>A
|
rs149587594
|
0.00430
|
NM_001134831.2(AHI1):c.2972G>A (p.Arg991His)
|
rs35851478
|
0.00429
|
NM_001134831.2(AHI1):c.2505G>A (p.Arg835=)
|
rs41288017
|
0.00383
|
NM_001134831.2(AHI1):c.517G>A (p.Ala173Thr)
|
rs146416468
|
0.00348
|
NM_001134831.2(AHI1):c.11-45T>C
|
rs146965488
|
0.00339
|
NM_001134831.2(AHI1):c.1791C>T (p.Ile597=)
|
rs150425546
|
0.00307
|
NM_001134831.2(AHI1):c.724C>T (p.Pro242Ser)
|
rs143522987
|
0.00307
|
NM_001134831.2(AHI1):c.178A>G (p.Thr60Ala)
|
rs115502075
|
0.00279
|
NM_001134831.2(AHI1):c.-140+1G>T
|
rs145372075
|
0.00258
|
NM_001134831.2(AHI1):c.3485+43G>C
|
rs73776470
|
0.00246
|
NM_001134831.2(AHI1):c.3546G>A (p.Met1182Ile)
|
rs184236039
|
0.00236
|
NM_001134831.2(AHI1):c.3039G>A (p.Gln1013=)
|
rs142381345
|
0.00194
|
NM_001134831.2(AHI1):c.1404A>G (p.Glu468=)
|
rs36069919
|
0.00187
|
NM_001134831.2(AHI1):c.2490G>A (p.Arg830=)
|
rs368942099
|
0.00163
|
NM_001134831.2(AHI1):c.3164C>T (p.Thr1055Met)
|
rs73559947
|
0.00159
|
NM_001134831.2(AHI1):c.72T>C (p.Ser24=)
|
rs73777558
|
0.00147
|
NM_001134831.2(AHI1):c.2714G>C (p.Cys905Ser)
|
rs199879855
|
0.00144
|
NM_001134831.2(AHI1):c.3257A>G (p.Glu1086Gly)
|
rs148000791
|
0.00115
|
NM_001134831.2(AHI1):c.3503A>G (p.Glu1168Gly)
|
rs199578341
|
0.00102
|
NM_001134831.2(AHI1):c.135+41G>A
|
rs368840462
|
0.00061
|
NM_001134831.2(AHI1):c.1533T>G (p.Val511=)
|
rs373669500
|
0.00058
|
NM_001134831.2(AHI1):c.989A>G (p.Asp330Gly)
|
rs200201741
|
0.00041
|
NM_001134831.2(AHI1):c.1013T>G (p.Leu338Trp)
|
rs201790260
|
0.00033
|
NM_001134831.2(AHI1):c.2373+18A>G
|
rs371919793
|
0.00032
|
NM_001134831.2(AHI1):c.3418C>T (p.Pro1140Ser)
|
rs201148693
|
0.00031
|
NM_001134831.2(AHI1):c.2382A>G (p.Lys794=)
|
rs191682790
|
0.00030
|
NM_001134831.2(AHI1):c.1033T>A (p.Leu345Met)
|
rs200927282
|
0.00016
|
NM_001134831.2(AHI1):c.1415G>A (p.Arg472Gln)
|
rs770605375
|
0.00014
|
NM_001134831.2(AHI1):c.2808A>G (p.Thr936=)
|
rs373772212
|
0.00013
|
NM_001134831.2(AHI1):c.3196C>T (p.Arg1066Ter)
|
rs780163791
|
0.00013
|
NM_001134831.2(AHI1):c.3033A>G (p.Ser1011=)
|
rs372030704
|
0.00010
|
NM_001134831.2(AHI1):c.653A>G (p.Tyr218Cys)
|
rs183936286
|
0.00009
|
NM_001134831.2(AHI1):c.1593C>T (p.Tyr531=)
|
rs370332260
|
0.00007
|
NM_001134831.2(AHI1):c.573A>C (p.Ala191=)
|
rs200993978
|
0.00007
|
NM_001134831.2(AHI1):c.2037-7T>C
|
rs539801988
|
0.00005
|
NM_001134831.2(AHI1):c.2492+15G>A
|
rs535243555
|
0.00004
|
NM_001134831.2(AHI1):c.1235A>G (p.Gln412Arg)
|
rs1264460804
|
0.00001
|
NM_001134831.2(AHI1):c.1719C>T (p.Asp573=)
|
rs886038629
|
0.00001
|
NM_001134831.2(AHI1):c.2299G>T (p.Val767Leu)
|
rs755688765
|
0.00001
|
NM_001134831.2(AHI1):c.2784A>T (p.Glu928Asp)
|
rs538724792
|
0.00001
|
NM_001134831.2(AHI1):c.3328+17C>G
|
rs756947602
|
0.00001
|
NM_001134831.2(AHI1):c.749+19A>G
|
rs73777548
|
0.00001
|
GRCh37/hg19 6q23.3(chr6:135710693-135735779)
|
|
|
GRCh37/hg19 6q23.3(chr6:135711195-135740496)
|
|
|
NC_000006.11:g.(135679326_135715913)_(135732683_135748304)del
|
|
|
NC_000006.11:g.(135726116_135732485)_(135818904_?)dup
|
|
|
NM_001134831.2(AHI1):c.*28G>C
|
rs9494209
|
|
NM_001134831.2(AHI1):c.1152-7dup
|
rs773371042
|
|
NM_001134831.2(AHI1):c.1253C>A (p.Pro418Gln)
|
rs2128077398
|
|
NM_001134831.2(AHI1):c.1829G>C (p.Arg610Pro)
|
rs374009466
|
|
NM_001134831.2(AHI1):c.2036+20A>G
|
rs757547033
|
|
NM_001134831.2(AHI1):c.2173T>C (p.Trp725Arg)
|
rs863225144
|
|
NM_001134831.2(AHI1):c.2374-12del
|
rs766929085
|
|
NM_001134831.2(AHI1):c.2623+10dup
|
rs760987188
|
|
NM_001134831.2(AHI1):c.2988del (p.Val997fs)
|
rs755246809
|
|
NM_001134831.2(AHI1):c.3110-22_3110-19del
|
rs71725890
|
|
NM_001134831.2(AHI1):c.3484C>T (p.His1162Tyr)
|
|
|
NM_001134831.2(AHI1):c.3485+13_3485+15del
|
rs540849894
|
|
NM_001134831.2(AHI1):c.3486-10C>T
|
|
|
NM_001134831.2(AHI1):c.399G>T (p.Val133=)
|
rs886038630
|
|
NM_001134831.2(AHI1):c.983G>T (p.Ser328Ile)
|
rs777420094
|
|