NM_014714.4(IFT140):c.1565G>A (p.Gly522Glu)
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rs199826737
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0.00009
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NM_014714.4(IFT140):c.2399+1G>T
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rs376586707
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0.00006
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NM_014714.4(IFT140):c.3939C>A (p.Cys1313Ter)
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rs1002670900
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0.00006
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NM_014714.4(IFT140):c.1990G>A (p.Glu664Lys)
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rs387907192
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0.00004
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NM_014714.4(IFT140):c.1727G>A (p.Arg576Gln)
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rs373111085
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0.00003
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NM_014714.4(IFT140):c.2611C>T (p.Arg871Cys)
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rs767213195
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0.00003
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NM_014714.4(IFT140):c.1959G>A (p.Trp653Ter)
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rs770731272
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0.00001
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NM_014714.4(IFT140):c.2177C>T (p.Pro726Leu)
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rs1417500285
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0.00001
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NM_014714.4(IFT140):c.3214C>T (p.Arg1072Ter)
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rs1432688490
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0.00001
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NM_014714.4(IFT140):c.4196T>C (p.Leu1399Pro)
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rs559371453
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0.00001
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GRCh37/hg19 16p13.3(chr16:1568217-1570809)
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GRCh38/hg38 16p13.3(chr16:1515602-1521308)x3
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NC_000016.9:g.(?_1568197)_(1570829_?)dup
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NC_000016.9:g.(?_1574533)_(1576817_?)del
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NC_000016.9:g.(?_1607916)_(1608155_?)del
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NC_000016.9:g.(?_1618198)_(1618355_?)del
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NC_000016.9:g.(?_1621388)_(1621555_?)del
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NC_000016.9:g.(?_1633295)_(1637325_?)del
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NM_014714.4(IFT140):c.1525-1G>A
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rs2034013225
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NM_014714.4(IFT140):c.1525-2A>T
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rs2141634877
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NM_014714.4(IFT140):c.1597_1598insA (p.Phe533fs)
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NM_014714.4(IFT140):c.1648C>T (p.Arg550Ter)
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NM_014714.4(IFT140):c.1795dup (p.Ile599fs)
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rs2141570994
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NM_014714.4(IFT140):c.1867_1870del (p.Glu623fs)
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NM_014714.4(IFT140):c.1898_1901del (p.Asn633fs)
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rs1555487977
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NM_014714.4(IFT140):c.1992_2005dup (p.Thr669fs)
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rs2141541431
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NM_014714.4(IFT140):c.2038C>T (p.Gln680Ter)
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rs2141540660
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NM_014714.4(IFT140):c.2214_2217del (p.Asp738fs)
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rs1415763185
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NM_014714.4(IFT140):c.2278C>T (p.Arg760Ter)
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rs1555486629
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NM_014714.4(IFT140):c.2292del (p.Leu765fs)
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NM_014714.4(IFT140):c.2400-2A>G
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rs1555478654
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NM_014714.4(IFT140):c.2411G>A (p.Trp804Ter)
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|
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NM_014714.4(IFT140):c.2443C>T (p.Gln815Ter)
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rs2141185231
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NM_014714.4(IFT140):c.2483del (p.Gly828fs)
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|
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NM_014714.4(IFT140):c.2500C>T (p.Arg834Ter)
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rs777399400
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NM_014714.4(IFT140):c.2577+25G>A
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rs1423102192
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NM_014714.4(IFT140):c.2656C>T (p.Gln886Ter)
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rs1567330535
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NM_014714.4(IFT140):c.2671del (p.Gln890_Val891insTer)
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rs2141179932
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NM_014714.4(IFT140):c.2677G>T (p.Glu893Ter)
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rs372746686
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NM_014714.4(IFT140):c.2682delinsAA (p.His894fs)
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NM_014714.4(IFT140):c.3192del (p.Glu1065fs)
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rs1567327347
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NM_014714.4(IFT140):c.3250_3253dup (p.Val1085fs)
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rs766084603
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NM_014714.4(IFT140):c.3313C>T (p.Gln1105Ter)
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|
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NM_014714.4(IFT140):c.3408_3409del (p.His1136fs)
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rs765669703
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NM_014714.4(IFT140):c.3454-1003_4040+737delinsC
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NM_014714.4(IFT140):c.3454-488_4182+2588dup
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NM_014714.4(IFT140):c.3489del (p.Asn1163fs)
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rs2141148172
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NM_014714.4(IFT140):c.3502G>T (p.Glu1168Ter)
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NM_014714.4(IFT140):c.3640C>T (p.Gln1214Ter)
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rs2141147087
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NM_014714.4(IFT140):c.3672_3673del (p.Leu1225fs)
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rs754400742
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NM_014714.4(IFT140):c.3691_3692del (p.Thr1231fs)
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rs2141145188
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NM_014714.4(IFT140):c.3727C>T (p.Gln1243Ter)
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rs2141144931
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NM_014714.4(IFT140):c.3827G>A (p.Gly1276Glu)
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rs779007169
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NM_014714.4(IFT140):c.3891C>A (p.Tyr1297Ter)
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|
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NM_014714.4(IFT140):c.3916dup (p.Ala1306fs)
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rs587776909
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NM_014714.4(IFT140):c.3981del (p.Arg1328fs)
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rs1431530916
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NM_014714.4(IFT140):c.3991C>T (p.Gln1331Ter)
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rs794727473
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NM_014714.4(IFT140):c.4041-2A>G
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NM_014714.4(IFT140):c.4078T>C (p.Cys1360Arg)
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rs431905520
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NM_014714.4(IFT140):c.4236_4239dup (p.Tyr1414fs)
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rs1555474009
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NM_014714.4:c.(?_-1)_(*1_?)del
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