NM_015662.3(IFT172):c.112C>T (p.Arg38Ter)
|
rs139021548
|
0.00004
|
NM_015662.3(IFT172):c.5179T>C (p.Cys1727Arg)
|
rs149614625
|
0.00004
|
NM_015662.3(IFT172):c.1525-1G>A
|
rs370540673
|
0.00001
|
NM_015662.3(IFT172):c.2365C>T (p.Arg789Ter)
|
rs202024173
|
0.00001
|
NM_015662.3(IFT172):c.2536C>T (p.Arg846Ter)
|
rs761095604
|
0.00001
|
NM_015662.3(IFT172):c.2567del (p.Leu856fs)
|
rs1357839545
|
0.00001
|
NM_015662.3(IFT172):c.2765dup (p.Tyr922Ter)
|
rs750338419
|
0.00001
|
NM_015662.3(IFT172):c.2866C>T (p.Gln956Ter)
|
rs144450109
|
0.00001
|
NM_015662.3(IFT172):c.3793G>T (p.Glu1265Ter)
|
rs999731005
|
0.00001
|
NM_015662.3(IFT172):c.3907C>T (p.Arg1303Ter)
|
rs587777087
|
0.00001
|
NM_015662.3(IFT172):c.3944G>A (p.Trp1315Ter)
|
rs778898472
|
0.00001
|
NM_015662.3(IFT172):c.4508G>A (p.Trp1503Ter)
|
rs1665288663
|
0.00001
|
NM_015662.3(IFT172):c.4519C>T (p.Arg1507Ter)
|
rs150246251
|
0.00001
|
NM_015662.3(IFT172):c.4597dup (p.Thr1533fs)
|
rs1183354903
|
0.00001
|
NC_000002.11:g.(?_27693775)_(27695249_?)del
|
|
|
NC_000002.12:g.(?_27462701)_(27463181_?)del
|
|
|
NM_001168364.2(KRTCAP3):c.*5+455_*5+465del
|
|
|
NM_015662.3(IFT172):c.1036C>T (p.Arg346Ter)
|
rs201862538
|
|
NM_015662.3(IFT172):c.1078del (p.Glu359_Val360insTer)
|
rs1453282096
|
|
NM_015662.3(IFT172):c.1100_1103dup (p.Tyr368Ter)
|
|
|
NM_015662.3(IFT172):c.1115dup (p.His372fs)
|
rs2148544061
|
|
NM_015662.3(IFT172):c.1209del (p.Phe403fs)
|
rs2148542989
|
|
NM_015662.3(IFT172):c.1315dup (p.His439fs)
|
|
|
NM_015662.3(IFT172):c.1342_1343del (p.Arg448fs)
|
rs1558404443
|
|
NM_015662.3(IFT172):c.1412-1G>C
|
|
|
NM_015662.3(IFT172):c.1412-2A>G
|
|
|
NM_015662.3(IFT172):c.148A>T (p.Arg50Ter)
|
rs1668686361
|
|
NM_015662.3(IFT172):c.1555A>T (p.Lys519Ter)
|
|
|
NM_015662.3(IFT172):c.1671_1672dup (p.Val558fs)
|
rs587777083
|
|
NM_015662.3(IFT172):c.1871_1872del (p.Thr624fs)
|
|
|
NM_015662.3(IFT172):c.189_192del (p.Lys65fs)
|
|
|
NM_015662.3(IFT172):c.1972C>T (p.Arg658Ter)
|
|
|
NM_015662.3(IFT172):c.2078del (p.Lys693fs)
|
rs1444591972
|
|
NM_015662.3(IFT172):c.2146C>T (p.Gln716Ter)
|
rs2148507566
|
|
NM_015662.3(IFT172):c.2158del (p.Arg720fs)
|
rs587777086
|
|
NM_015662.3(IFT172):c.2209G>T (p.Glu737Ter)
|
|
|
NM_015662.3(IFT172):c.2224_2236dup (p.Trp746Ter)
|
|
|
NM_015662.3(IFT172):c.2233C>T (p.Gln745Ter)
|
|
|
NM_015662.3(IFT172):c.2584dup (p.Asp862fs)
|
|
|
NM_015662.3(IFT172):c.2646C>A (p.Cys882Ter)
|
rs1309394469
|
|
NM_015662.3(IFT172):c.2760dup (p.His921fs)
|
|
|
NM_015662.3(IFT172):c.3130C>T (p.Arg1044Ter)
|
|
|
NM_015662.3(IFT172):c.3426del (p.Glu1143fs)
|
|
|
NM_015662.3(IFT172):c.3562C>T (p.Gln1188Ter)
|
|
|
NM_015662.3(IFT172):c.3628dup (p.Ala1210fs)
|
|
|
NM_015662.3(IFT172):c.3648dup (p.Gln1217fs)
|
|
|
NM_015662.3(IFT172):c.3850C>T (p.Arg1284Ter)
|
rs1366937730
|
|
NM_015662.3(IFT172):c.3914_3915del (p.Ser1305fs)
|
|
|
NM_015662.3(IFT172):c.3949A>T (p.Lys1317Ter)
|
rs2148485970
|
|
NM_015662.3(IFT172):c.4194dup (p.Phe1399fs)
|
rs2148477695
|
|
NM_015662.3(IFT172):c.4493_4494del (p.Glu1498fs)
|
|
|
NM_015662.3(IFT172):c.455_462dup (p.Val155fs)
|
|
|
NM_015662.3(IFT172):c.4642C>T (p.Gln1548Ter)
|
|
|
NM_015662.3(IFT172):c.4680_4683del (p.Ser1561fs)
|
rs1665095139
|
|
NM_015662.3(IFT172):c.4701C>A (p.His1567Gln)
|
rs786205855
|
|
NM_015662.3(IFT172):c.4789dup (p.Leu1597fs)
|
rs2148467517
|
|
NM_015662.3(IFT172):c.4853del (p.Ser1618fs)
|
rs2148467030
|
|
NM_015662.3(IFT172):c.4925_4928del (p.Arg1642fs)
|
rs587777078
|
|
NM_015662.3(IFT172):c.4936C>T (p.Arg1646Ter)
|
|
|
NM_015662.3(IFT172):c.4966C>T (p.Gln1656Ter)
|
|
|
NM_015662.3(IFT172):c.5044C>T (p.Arg1682Ter)
|
rs1329856696
|
|
NM_015662.3(IFT172):c.691del (p.Thr231fs)
|
|
|
NM_015662.3(IFT172):c.811C>T (p.Arg271Ter)
|
rs1250676888
|
|
NM_015662.3(IFT172):c.875del (p.Leu292fs)
|
|
|
NM_015662.3(IFT172):c.952C>T (p.Arg318Ter)
|
|
|
NM_015662.3(IFT172):c.978dup (p.Glu327Ter)
|
|
|