NM_001134831.2(AHI1):c.3257A>G (p.Glu1086Gly)
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rs148000791
|
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
|
0.00005
|
NM_001134831.2(AHI1):c.1997A>T (p.Asp666Val)
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rs863225147
|
0.00004
|
NM_001134831.2(AHI1):c.2168G>A (p.Arg723Gln)
|
rs121434351
|
0.00003
|
NM_001134831.2(AHI1):c.3235C>T (p.Arg1079Ter)
|
rs761732432
|
0.00002
|
NM_001134831.2(AHI1):c.533_534del (p.Glu178fs)
|
rs759593846
|
0.00002
|
NM_001134831.2(AHI1):c.1301T>C (p.Leu434Pro)
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rs771603649
|
0.00001
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NM_001134831.2(AHI1):c.1483C>T (p.Arg495Cys)
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rs891261493
|
0.00001
|
NM_001134831.2(AHI1):c.1626+1G>A
|
rs863225137
|
0.00001
|
NM_001134831.2(AHI1):c.1981T>C (p.Ser661Pro)
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rs1785745572
|
0.00001
|
NM_001134831.2(AHI1):c.2105C>T (p.Thr702Met)
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rs756276537
|
0.00001
|
NM_001134831.2(AHI1):c.2174G>A (p.Trp725Ter)
|
rs587783013
|
0.00001
|
NM_001134831.2(AHI1):c.2266G>T (p.Gly756Cys)
|
rs376754552
|
0.00001
|
NM_001134831.2(AHI1):c.2569_2570insAG (p.Phe857Ter)
|
rs773278338
|
0.00001
|
NM_001134831.2(AHI1):c.2582G>A (p.Gly861Glu)
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rs1217172210
|
0.00001
|
NM_001134831.2(AHI1):c.484C>T (p.Gln162Ter)
|
rs1270654737
|
0.00001
|
GRCh37/hg19 6q23.3(chr6:135710693-135735779)
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GRCh37/hg19 6q23.3(chr6:135715893-135732702)
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NC_000006.11:g.(135754395_135759512)_(135759637_135763719)del
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NC_000006.11:g.(?_135679250)_(135679345_?)dup
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|
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NC_000006.12:g.(?_135394756)_(135411564_?)del
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|
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NM_001134831.2(AHI1):c.1094dup (p.Met365fs)
|
rs2128081478
|
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NM_001134831.2(AHI1):c.11-1G>C
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|
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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
|
rs2128081334
|
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NM_001134831.2(AHI1):c.1205C>T (p.Pro402Leu)
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rs1057524842
|
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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.1242_1243del (p.Lys414fs)
|
rs1554209758
|
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NM_001134831.2(AHI1):c.1270del (p.Ile424fs)
|
rs1788846426
|
|
NM_001134831.2(AHI1):c.1328T>A (p.Val443Asp)
|
rs121434350
|
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NM_001134831.2(AHI1):c.136-1G>A
|
rs2128100946
|
|
NM_001134831.2(AHI1):c.1493T>C (p.Leu498Pro)
|
rs2128059170
|
|
NM_001134831.2(AHI1):c.1671del (p.Gly558fs)
|
rs2128056526
|
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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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|
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NM_001134831.2(AHI1):c.1779G>T (p.Gln593His)
|
rs1583276758
|
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NM_001134831.2(AHI1):c.1799_1802del (p.Lys600fs)
|
rs1786504555
|
|
NM_001134831.2(AHI1):c.1811C>G (p.Ser604Ter)
|
rs781198326
|
|
NM_001134831.2(AHI1):c.1840dup (p.Cys614fs)
|
rs1163874095
|
|
NM_001134831.2(AHI1):c.1861G>T (p.Gly621Ter)
|
rs797045223
|
|
NM_001134831.2(AHI1):c.1912+1488_2036+506del
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|
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NM_001134831.2(AHI1):c.1913-1G>A
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NM_001134831.2(AHI1):c.1985G>A (p.Trp662Ter)
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|
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NM_001134831.2(AHI1):c.2037-1G>C
|
rs1784918128
|
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NM_001134831.2(AHI1):c.2087A>G (p.His696Arg)
|
rs797045224
|
|
NM_001134831.2(AHI1):c.2155G>C (p.Asp719His)
|
|
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NM_001134831.2(AHI1):c.2156A>G (p.Asp719Gly)
|
rs863225134
|
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NM_001134831.2(AHI1):c.2167C>G (p.Arg723Gly)
|
|
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NM_001134831.2(AHI1):c.2250_2251del (p.Cys751fs)
|
rs1784887448
|
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NM_001134831.2(AHI1):c.2388_2389del (p.Glu797fs)
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|
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NM_001134831.2(AHI1):c.2429C>T (p.Pro810Leu)
|
rs1554338016
|
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NM_001134831.2(AHI1):c.2483A>C (p.Asp828Ala)
|
rs1784406093
|
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NM_001134831.2(AHI1):c.2492+5G>A
|
rs2128012406
|
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NM_001134831.2(AHI1):c.2493-1G>T
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|
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NM_001134831.2(AHI1):c.2495T>G (p.Leu832Ter)
|
rs863225131
|
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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)
|
rs1355690902
|
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NM_001134831.2(AHI1):c.2760_2764+2del
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|
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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
|
|
NM_001134831.2(AHI1):c.2988del (p.Val997fs)
|
rs755246809
|
|
NM_001134831.2(AHI1):c.2989-2A>G
|
rs2128485171
|
|
NM_001134831.2(AHI1):c.2989-2A>T
|
|
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NM_001134831.2(AHI1):c.300dup (p.Leu101fs)
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|
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NM_001134831.2(AHI1):c.3059dup (p.Asn1020fs)
|
rs1463748841
|
|
NM_001134831.2(AHI1):c.3105_3106del (p.Gln1035fs)
|
|
|
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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|
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NM_001134831.2(AHI1):c.3166-1G>T
|
|
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NM_001134831.2(AHI1):c.316_319del (p.Leu106fs)
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|
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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)
|
rs2128098409
|
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NM_001134831.2(AHI1):c.630_633del (p.Lys210fs)
|
rs776569081
|
|
NM_001134831.2(AHI1):c.703dup (p.Arg235fs)
|
rs1336317768
|
|
NM_001134831.2(AHI1):c.72_85del (p.Ser24fs)
|
rs780910490
|
|
NM_001134831.2(AHI1):c.749+1G>C
|
rs780069818
|
|
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.917del (p.Lys306fs)
|
rs1181159671
|
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NM_001134831.2(AHI1):c.932-2_932del
|
|
|
NM_001134831.2(AHI1):c.96dup (p.Leu33fs)
|
rs747322175
|
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NM_017651.4(AHI1):c.[2561G>T];[3368C>T]
|
|
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