NM_001134831.2(AHI1):c.-140+1G>T
|
rs145372075
|
0.00258
|
NM_001134831.2(AHI1):c.2714G>C (p.Cys905Ser)
|
rs199879855
|
0.00144
|
NM_001134831.2(AHI1):c.986G>T (p.Arg329Leu)
|
rs139944375
|
0.00111
|
NM_001134831.2(AHI1):c.3109+6766A>G
|
rs201074308
|
0.00078
|
NM_001134831.2(AHI1):c.1013T>G (p.Leu338Trp)
|
rs201790260
|
0.00033
|
NM_001134831.2(AHI1):c.1829G>A (p.Arg610Gln)
|
rs374009466
|
0.00032
|
NM_001134831.2(AHI1):c.2831A>G (p.Gln944Arg)
|
rs142704960
|
0.00032
|
NM_001134831.2(AHI1):c.3329-7A>G
|
rs370808684
|
0.00031
|
NM_001134831.2(AHI1):c.3418C>T (p.Pro1140Ser)
|
rs201148693
|
0.00031
|
NM_001134831.2(AHI1):c.827C>G (p.Ser276Cys)
|
rs190854744
|
0.00028
|
NM_001134831.2(AHI1):c.221T>A (p.Ile74Asn)
|
rs370059449
|
0.00021
|
NM_001134831.2(AHI1):c.2548A>G (p.Thr850Ala)
|
rs779509262
|
0.00017
|
NM_001134831.2(AHI1):c.1033T>A (p.Leu345Met)
|
rs200927282
|
0.00016
|
NM_001134831.2(AHI1):c.3223G>A (p.Gly1075Arg)
|
rs750115460
|
0.00016
|
NM_001134831.2(AHI1):c.1415G>A (p.Arg472Gln)
|
rs770605375
|
0.00014
|
NM_001134831.2(AHI1):c.1454A>G (p.Asn485Ser)
|
rs375425462
|
0.00013
|
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.1157G>A (p.Arg386Gln)
|
rs371243793
|
0.00012
|
NM_001134831.2(AHI1):c.136-2A>G
|
rs776579906
|
0.00011
|
NM_001134831.2(AHI1):c.2873A>G (p.Gln958Arg)
|
rs201771478
|
0.00009
|
NM_001134831.2(AHI1):c.653A>G (p.Tyr218Cys)
|
rs183936286
|
0.00009
|
NM_001134831.2(AHI1):c.1694G>A (p.Arg565His)
|
rs372894716
|
0.00007
|
NM_001134831.2(AHI1):c.1131A>G (p.Gln377=)
|
rs142518256
|
0.00006
|
NM_001134831.2(AHI1):c.1680A>G (p.Pro560=)
|
rs200949030
|
0.00006
|
NM_001134831.2(AHI1):c.2794C>T (p.Arg932Cys)
|
rs370101143
|
0.00006
|
NM_001134831.2(AHI1):c.73G>A (p.Asp25Asn)
|
rs201590073
|
0.00006
|
NM_001134831.2(AHI1):c.74A>G (p.Asp25Gly)
|
rs778792339
|
0.00006
|
NM_001134831.2(AHI1):c.493G>A (p.Val165Ile)
|
rs755936005
|
0.00005
|
NM_001134831.2(AHI1):c.2407A>G (p.Ile803Val)
|
rs763696602
|
0.00004
|
NM_001134831.2(AHI1):c.2672G>A (p.Arg891Gln)
|
rs200816459
|
0.00004
|
NM_001134831.2(AHI1):c.83G>A (p.Arg28His)
|
rs36115433
|
0.00004
|
NM_001134831.2(AHI1):c.2294C>T (p.Thr765Ile)
|
rs200017073
|
0.00003
|
NM_001134831.2(AHI1):c.2660A>G (p.Lys887Arg)
|
rs200355875
|
0.00003
|
NM_001134831.2(AHI1):c.3160C>G (p.Pro1054Ala)
|
rs201691998
|
0.00003
|
NM_001134831.2(AHI1):c.3329C>T (p.Thr1110Ile)
|
rs891027780
|
0.00003
|
NM_001134831.2(AHI1):c.1507A>G (p.Thr503Ala)
|
rs946149286
|
0.00002
|
NM_001134831.2(AHI1):c.170A>G (p.Lys57Arg)
|
rs762906949
|
0.00002
|
NM_001134831.2(AHI1):c.1891C>T (p.Arg631Trp)
|
rs748010693
|
0.00002
|
NM_001134831.2(AHI1):c.3245T>G (p.Phe1082Cys)
|
rs763991049
|
0.00002
|
NM_001134831.2(AHI1):c.1625G>C (p.Cys542Ser)
|
rs768523364
|
0.00001
|
NM_001134831.2(AHI1):c.1693C>T (p.Arg565Cys)
|
rs763970632
|
0.00001
|
NM_001134831.2(AHI1):c.2266+3A>G
|
rs1220929193
|
0.00001
|
NM_001134831.2(AHI1):c.2492+3A>G
|
rs951268770
|
0.00001
|
NM_001134831.2(AHI1):c.2504G>A (p.Arg835Lys)
|
rs767879919
|
0.00001
|
NM_001134831.2(AHI1):c.2580T>A (p.Ala860=)
|
rs1185759126
|
0.00001
|
NM_001134831.2(AHI1):c.2638A>G (p.Met880Val)
|
rs759069413
|
0.00001
|
NM_001134831.2(AHI1):c.2988+6T>C
|
rs751303913
|
0.00001
|
NM_001134831.2(AHI1):c.3159A>T (p.Ala1053=)
|
rs143485622
|
0.00001
|
NM_001134831.2(AHI1):c.3165+1G>A
|
rs1448108151
|
0.00001
|
NM_001134831.2(AHI1):c.331C>T (p.Pro111Ser)
|
rs776053386
|
0.00001
|
NM_001134831.2(AHI1):c.3583A>G (p.Ile1195Val)
|
rs776098993
|
0.00001
|
NM_001134831.2(AHI1):c.750-34T>C
|
rs765781545
|
0.00001
|
NM_001134831.2(AHI1):c.878T>C (p.Met293Thr)
|
rs759553258
|
0.00001
|
GRCh37/hg19 6q23.3(chr6:135710490-135740494)x1
|
|
|
GRCh37/hg19 6q23.3(chr6:135710693-135730886)x1
|
|
|
GRCh37/hg19 6q23.3(chr6:135711267-135735779)x1
|
|
|
GRCh37/hg19 6q23.3(chr6:135711485-135735779)x1
|
|
|
GRCh37/hg19 6q23.3(chr6:135780189-135868217)x1
|
|
|
GRCh37/hg19 6q23.3(chr6:135811334-135898414)x3
|
|
|
NM_001134831.2(AHI1):c.113T>C (p.Val38Ala)
|
|
|
NM_001134831.2(AHI1):c.1522C>G (p.Pro508Ala)
|
rs2128059018
|
|
NM_001134831.2(AHI1):c.1531G>A (p.Val511Ile)
|
|
|
NM_001134831.2(AHI1):c.153C>G (p.Ser51Arg)
|
rs1790994808
|
|
NM_001134831.2(AHI1):c.1803C>A (p.His601Gln)
|
rs375537062
|
|
NM_001134831.2(AHI1):c.1865G>A (p.Arg622Lys)
|
rs777497854
|
|
NM_001134831.2(AHI1):c.1915T>C (p.Tyr639His)
|
rs974371363
|
|
NM_001134831.2(AHI1):c.2012C>T (p.Thr671Ile)
|
rs772989270
|
|
NM_001134831.2(AHI1):c.2276T>C (p.Met759Thr)
|
rs1562754136
|
|
NM_001134831.2(AHI1):c.2282C>T (p.Ser761Leu)
|
rs794727174
|
|
NM_001134831.2(AHI1):c.2369_2372del (p.Asn790fs)
|
rs1562753388
|
|
NM_001134831.2(AHI1):c.2571T>G (p.Phe857Leu)
|
|
|
NM_001134831.2(AHI1):c.2591A>T (p.Asp864Val)
|
|
|
NM_001134831.2(AHI1):c.2944A>G (p.Arg982Gly)
|
rs1554326426
|
|
NM_001134831.2(AHI1):c.2961+7_2961+21delinsGACTTTTTTAAAGTTTTAAA
|
rs786200964
|
|
NM_001134831.2(AHI1):c.3178T>G (p.Tyr1060Asp)
|
|
|
NM_001134831.2(AHI1):c.3188C>T (p.Thr1063Ile)
|
|
|
NM_001134831.2(AHI1):c.3435_3438del (p.Asn1146fs)
|
rs1562458813
|
|
NM_001134831.2(AHI1):c.3453G>C (p.Gln1151His)
|
rs765545542
|
|
NM_001134831.2(AHI1):c.428C>T (p.Pro143Leu)
|
rs192524061
|
|
NM_001134831.2(AHI1):c.44G>A (p.Arg15His)
|
rs760220297
|
|
NM_001134831.2(AHI1):c.542A>C (p.Asp181Ala)
|
|
|
NM_001134831.2(AHI1):c.569A>G (p.Gln190Arg)
|
|
|
NM_001134831.2(AHI1):c.679G>A (p.Asp227Asn)
|
rs886043592
|
|
NM_001134831.2(AHI1):c.712A>G (p.Lys238Glu)
|
rs748182443
|
|
NM_001134831.2(AHI1):c.931+5G>A
|
rs1216222889
|
|
NM_001134831.2(AHI1):c.983G>T (p.Ser328Ile)
|
rs777420094
|
|