NM_001134831.2(AHI1):c.3257A>G (p.Glu1086Gly)
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rs148000791
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0.00115
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NM_001134831.2(AHI1):c.3196C>T (p.Arg1066Ter)
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rs780163791
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0.00013
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NM_001134831.2(AHI1):c.136-2A>G
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rs776579906
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0.00011
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NM_001134831.2(AHI1):c.3032C>G (p.Ser1011Ter)
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rs777215595
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0.00005
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NM_001134831.2(AHI1):c.2168G>A (p.Arg723Gln)
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rs121434351
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0.00003
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NM_001134831.2(AHI1):c.3235C>T (p.Arg1079Ter)
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rs761732432
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0.00002
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NM_001134831.2(AHI1):c.533_534del (p.Glu178fs)
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rs759593846
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0.00002
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NM_001134831.2(AHI1):c.1483C>T (p.Arg495Cys)
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rs891261493
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0.00001
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NM_001134831.2(AHI1):c.2174G>A (p.Trp725Ter)
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rs587783013
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0.00001
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NM_001134831.2(AHI1):c.2266G>T (p.Gly756Cys)
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rs376754552
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0.00001
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NM_001134831.2(AHI1):c.2582G>A (p.Gly861Glu)
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rs1217172210
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0.00001
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NM_001134831.2(AHI1):c.484C>T (p.Gln162Ter)
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rs1270654737
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0.00001
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GRCh37/hg19 6q23.3(chr6:135715893-135732702)
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NC_000006.11:g.(?_135679250)_(135679345_?)dup
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NC_000006.12:g.(?_135394756)_(135411564_?)del
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NM_001134831.2(AHI1):c.1094dup (p.Met365fs)
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rs2128081478
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NM_001134831.2(AHI1):c.11-1G>C
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NM_001134831.2(AHI1):c.1148A>G (p.Asp383Gly)
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rs1789162289
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NM_001134831.2(AHI1):c.1151+1G>A
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rs2128081334
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NM_001134831.2(AHI1):c.1205del (p.Pro402fs)
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rs794729195
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NM_001134831.2(AHI1):c.1270del (p.Ile424fs)
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rs1788846426
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NM_001134831.2(AHI1):c.136-1G>A
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rs2128100946
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NM_001134831.2(AHI1):c.1493T>C (p.Leu498Pro)
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rs2128059170
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NM_001134831.2(AHI1):c.1779+1G>A
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NM_001134831.2(AHI1):c.1779+1G>T
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NM_001134831.2(AHI1):c.1779G>T (p.Gln593His)
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rs1583276758
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NM_001134831.2(AHI1):c.1799_1802del (p.Lys600fs)
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rs1786504555
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NM_001134831.2(AHI1):c.1840dup (p.Cys614fs)
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rs1163874095
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NM_001134831.2(AHI1):c.1861G>T (p.Gly621Ter)
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rs797045223
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NM_001134831.2(AHI1):c.1913-1G>A
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NM_001134831.2(AHI1):c.2037-1G>C
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rs1784918128
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NM_001134831.2(AHI1):c.2087A>G (p.His696Arg)
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rs797045224
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NM_001134831.2(AHI1):c.2155G>C (p.Asp719His)
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NM_001134831.2(AHI1):c.2167C>G (p.Arg723Gly)
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NM_001134831.2(AHI1):c.2483A>C (p.Asp828Ala)
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rs1784406093
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NM_001134831.2(AHI1):c.2492+5G>A
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rs2128012406
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NM_001134831.2(AHI1):c.2493-1G>T
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NM_001134831.2(AHI1):c.2624-2A>G
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NM_001134831.2(AHI1):c.2671C>T (p.Arg891Ter)
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rs1355690902
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NM_001134831.2(AHI1):c.2760_2764+2del
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NM_001134831.2(AHI1):c.2764+2T>C
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NM_001134831.2(AHI1):c.2961+1G>A
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NM_001134831.2(AHI1):c.2961+2T>G
|
rs2127973751
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NM_001134831.2(AHI1):c.2988del (p.Val997fs)
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rs755246809
|
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NM_001134831.2(AHI1):c.2989-2A>G
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rs2128485171
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NM_001134831.2(AHI1):c.2989-2A>T
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NM_001134831.2(AHI1):c.3105_3106del (p.Gln1035fs)
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NM_001134831.2(AHI1):c.3110-1G>A
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NM_001134831.2(AHI1):c.3110-2A>G
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NM_001134831.2(AHI1):c.3140del (p.Asn1047fs)
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NM_001134831.2(AHI1):c.3166-1G>T
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NM_001134831.2(AHI1):c.3426+2T>C
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NM_001134831.2(AHI1):c.3427-1G>A
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NM_001134831.2(AHI1):c.3486-2A>T
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NM_001134831.2(AHI1):c.430del (p.Glu144fs)
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rs2128098409
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NM_001134831.2(AHI1):c.72_85del (p.Ser24fs)
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rs780910490
|
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NM_001134831.2(AHI1):c.749+1G>C
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rs780069818
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NM_001134831.2(AHI1):c.750-1G>A
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NM_001134831.2(AHI1):c.750-2A>G
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NM_001134831.2(AHI1):c.932-2_932del
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NM_017651.4(AHI1):c.[2561G>T];[3368C>T]
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