NM_001377.3(DYNC2H1):c.9044A>G (p.Asp3015Gly)
|
rs137853027
|
0.00026
|
NM_014804.3(KIAA0753):c.810C>T (p.Tyr270=)
|
rs752659088
|
0.00006
|
NM_001286577.2(C2CD3):c.5267G>A (p.Gly1756Glu)
|
rs150291837
|
0.00003
|
NM_001377.3(DYNC2H1):c.10142C>T (p.Pro3381Leu)
|
rs368631447
|
0.00003
|
NM_001377.3(DYNC2H1):c.1306G>T (p.Glu436Ter)
|
rs371011047
|
0.00003
|
NM_014804.3(KIAA0753):c.970C>T (p.Arg324Ter)
|
rs746068882
|
0.00002
|
NM_001102564.3(IFT43):c.73C>T (p.Arg25Ter)
|
rs780404339
|
0.00001
|
NM_001286577.2(C2CD3):c.5227G>T (p.Gly1743Cys)
|
rs1064793399
|
0.00001
|
NM_001377.3(DYNC2H1):c.11049G>A (p.Pro3683=)
|
rs764926983
|
0.00001
|
NM_001377.3(DYNC2H1):c.6478-16G>A
|
rs376892534
|
0.00001
|
NM_025132.4(WDR19):c.3758G>A (p.Cys1253Tyr)
|
rs750716949
|
0.00001
|
NM_025132.4(WDR19):c.56T>G (p.Phe19Cys)
|
rs1247231925
|
0.00001
|
NM_001080463.1(DYNC2H1):c.[11284A>G;5971A>T]
|
|
|
NM_001080463.1(DYNC2H1):c.[12602C>T;9865G>A]
|
|
|
NM_001329943.3(KIAA0586):c.3398del (p.Leu1133fs)
|
rs1566883760
|
|
NM_001377.3(DYNC2H1):c.10001C>G (p.Pro3334Arg)
|
rs1565426918
|
|
NM_001377.3(DYNC2H1):c.1540C>T (p.Arg514Ter)
|
rs1565317399
|
|
NM_001377.3(DYNC2H1):c.1855C>T (p.Gln619Ter)
|
rs1260978141
|
|
NM_001377.3(DYNC2H1):c.2386del (p.Arg796fs)
|
rs765454943
|
|
NM_001377.3(DYNC2H1):c.2574+1G>A
|
rs1565329461
|
|
NM_001377.3(DYNC2H1):c.5682_5683del (p.His1896fs)
|
rs767846762
|
|
NM_001377.3(DYNC2H1):c.5771A>T (p.Asp1924Val)
|
rs1565368733
|
|
NM_001377.3(DYNC2H1):c.624_625delinsAA (p.Phe209Ile)
|
rs431905498
|
|
NM_001377.3(DYNC2H1):c.6910G>A (p.Ala2304Thr)
|
rs747348765
|
|
NM_001377.3(DYNC2H1):c.7129T>G (p.Phe2377Val)
|
rs1565379048
|
|
NM_001377.3(DYNC2H1):c.729T>A (p.Tyr243Ter)
|
rs1565311145
|
|
NM_001377.3(DYNC2H1):c.7919T>C (p.Ile2640Thr)
|
rs1265669915
|
|
NM_001377.3(DYNC2H1):c.8003T>G (p.Val2668Gly)
|
rs764468030
|
|
NM_001377.3(DYNC2H1):c.8444G>A (p.Ser2815Asn)
|
rs1565394254
|
|
NM_015681.6(B9D1):c.467G>C (p.Arg156Pro)
|
rs886038205
|
|
NM_025103.4(IFT74):c.-19-2025_120+884delinsTTA
|
|
|
NM_025132.4(WDR19):c.3868_3871del (p.Thr1290fs)
|
rs747165335
|
|
NM_025132.4(WDR19):c.974T>C (p.Leu325Ser)
|
rs1193255568
|
|
NM_031934.6(RAB34):c.254T>C (p.Ile85Thr)
|
|
|
NM_031934.6(RAB34):c.691C>T (p.Arg231Ter)
|
|
|
Single allele
|
|
|