NM_015662.3(IFT172):c.886C>T (p.Arg296Trp)
|
rs145541911
|
0.00030
|
NM_015662.3(IFT172):c.112C>T (p.Arg38Ter)
|
rs139021548
|
0.00004
|
NM_015662.3(IFT172):c.1525-1G>A
|
rs370540673
|
0.00001
|
NM_015662.3(IFT172):c.2155C>T (p.His719Tyr)
|
rs144645349
|
0.00001
|
NM_015662.3(IFT172):c.2365C>T (p.Arg789Ter)
|
rs202024173
|
0.00001
|
NM_015662.3(IFT172):c.2866C>T (p.Gln956Ter)
|
rs144450109
|
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
|
NM_015662.3(IFT172):c.4630C>T (p.Arg1544Cys)
|
rs587777079
|
0.00001
|
NC_000002.11:g.(?_27693775)_(27695249_?)del
|
|
|
NC_000002.12:g.(?_27462701)_(27463181_?)del
|
|
|
NC_000002.12:g.27484267del
|
|
|
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.1232T>A (p.Ile411Asn)
|
rs587777085
|
|
NM_015662.3(IFT172):c.1315dup (p.His439fs)
|
|
|
NM_015662.3(IFT172):c.1342_1343del (p.Arg448fs)
|
rs1558404443
|
|
NM_015662.3(IFT172):c.1390_1395del (p.Asp464_Ile465del)
|
rs587777084
|
|
NM_015662.3(IFT172):c.1412-1G>C
|
|
|
NM_015662.3(IFT172):c.1412-2A>G
|
|
|
NM_015662.3(IFT172):c.1478T>G (p.Leu493Arg)
|
rs1282056614
|
|
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.3112-5T>A
|
rs786205858
|
|
NM_015662.3(IFT172):c.3130C>T (p.Arg1044Ter)
|
|
|
NM_015662.3(IFT172):c.3228+1G>A
|
rs587777082
|
|
NM_015662.3(IFT172):c.3426del (p.Glu1143fs)
|
|
|
NM_015662.3(IFT172):c.3475G>T (p.Glu1159Ter)
|
rs748244135
|
|
NM_015662.3(IFT172):c.4194dup (p.Phe1399fs)
|
rs2148477695
|
|
NM_015662.3(IFT172):c.4398T>G (p.Tyr1466Ter)
|
|
|
NM_015662.3(IFT172):c.4428+3A>G
|
rs2148476381
|
|
NM_015662.3(IFT172):c.4493_4494del (p.Glu1498fs)
|
|
|
NM_015662.3(IFT172):c.455_462dup (p.Val155fs)
|
|
|
NM_015662.3(IFT172):c.4607T>C (p.Leu1536Pro)
|
rs587777080
|
|
NM_015662.3(IFT172):c.4642C>T (p.Gln1548Ter)
|
|
|
NM_015662.3(IFT172):c.691del (p.Thr231fs)
|
|
|
NM_015662.3(IFT172):c.770T>C (p.Leu257Pro)
|
rs786205857
|
|
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)
|
|
|