NM_024685.4(BBS10):c.1616C>T (p.Pro539Leu)
|
rs35676114
|
0.05430
|
NM_015102.5(NPHP4):c.2219G>A (p.Arg740His)
|
rs34248917
|
0.02256
|
NM_153240.5(NPHP3):c.3550G>A (p.Ala1184Thr)
|
rs34391943
|
0.00744
|
NM_001374353.1(GLI2):c.1808C>T (p.Thr603Met)
|
rs142775128
|
0.00099
|
NM_015910.7(WDPCP):c.83A>T (p.Asp28Val)
|
rs144703991
|
0.00039
|
NM_022124.6(CDH23):c.1814C>T (p.Ala605Val)
|
rs201475055
|
0.00029
|
NM_000440.3(PDE6A):c.299G>A (p.Arg100Gln)
|
rs199738915
|
0.00011
|
NM_000440.3(PDE6A):c.274G>A (p.Asp92Asn)
|
rs199924410
|
0.00009
|
NM_170784.3(MKKS):c.7C>T (p.Arg3Cys)
|
rs779042065
|
0.00004
|
NM_176824.3(BBS7):c.1037G>A (p.Arg346Gln)
|
rs370716101
|
0.00003
|
NM_001177701.3(IFT27):c.319G>A (p.Ala107Thr)
|
rs576803886
|
0.00001
|
NM_015102.5(NPHP4):c.1880C>T (p.Thr627Met)
|
rs199891059
|
0.00001
|
NM_015102.5(NPHP4):c.3454C>T (p.Pro1152Ser)
|
rs560329867
|
0.00001
|
NM_152618.3(BBS12):c.1276T>C (p.Cys426Arg)
|
rs771456483
|
0.00001
|
NM_181458.4(PAX3):c.1003C>T (p.Pro335Ser)
|
rs151199924
|
0.00001
|
NM_206933.4(USH2A):c.7334C>T (p.Ser2445Phe)
|
rs41315579
|
0.00001
|
NM_000092.5(COL4A4):c.2624del (p.Pro875fs)
|
|
|
NM_000330.4(RS1):c.349C>T (p.Gln117Ter)
|
rs199469696
|
|
NM_000330.4(RS1):c.374T>G (p.Ile125Arg)
|
rs199469695
|
|
NM_000330.4(RS1):c.376G>C (p.Asp126His)
|
rs199469698
|
|
NM_000330.4(RS1):c.387_434dup (p.Ile144_Asp145insGluIleLysValIleSerGlyIleLeuThrGlnGlyArgCysAspIle)
|
rs199469699
|
|
NM_000330.4(RS1):c.579del (p.Ile194fs)
|
rs199469697
|
|
NM_000330.4(RS1):c.580ATC[3] (p.Ile195_Ser196insIle)
|
rs199469701
|
|
NM_000330.4(RS1):c.663dup (p.Lys222fs)
|
rs199469700
|
|
NM_001144758.3(PHLDB1):c.2603G>A (p.Arg868His)
|
|
|
NM_001347.4(DGKQ):c.200C>T (p.Thr67Met)
|
|
|
NM_001378454.1(ALMS1):c.10234G>T (p.Ala3412Ser)
|
rs1454233838
|
|
NM_004758.4(TSPOAP1):c.25C>T (p.Arg9Trp)
|
|
|
NM_006044.4(HDAC6):c.1121C>G (p.Ala374Gly)
|
|
|
NM_006642.5(SDCCAG8):c.278C>T (p.Pro93Leu)
|
rs140413256
|
|
NM_015102.5(NPHP4):c.2126A>G (p.Asp709Gly)
|
|
|
NM_015102.5(NPHP4):c.2290G>A (p.Ala764Thr)
|
|
|
NM_015662.3(IFT172):c.199T>C (p.Tyr67His)
|
|
|
NM_015662.3(IFT172):c.3808A>C (p.Lys1270Gln)
|
|
|
NM_017777.4(MKS1):c.1505C>G (p.Ser502Trp)
|
rs758838271
|
|
NM_017777.4(MKS1):c.466G>A (p.Val156Ile)
|
|
|
NM_020366.4(RPGRIP1):c.2669G>C (p.Arg890Pro)
|
|
|
NM_020366.4(RPGRIP1):c.337C>G (p.Leu113Val)
|
|
|
NM_024685.4(BBS10):c.1249G>A (p.Ala417Thr)
|
|
|
NM_024685.4(BBS10):c.733T>G (p.Phe245Val)
|
|
|
NM_031885.5(BBS2):c.383T>C (p.Leu128Ser)
|
|
|
NM_144596.4(TTC8):c.747del (p.Lys249fs)
|
|
|
NM_152384.3(BBS5):c.25G>A (p.Glu9Lys)
|
rs1363954560
|
|
NM_152384.3(BBS5):c.682-1G>A
|
|
|
NM_152618.3(BBS12):c.1932TAG[1] (p.Ser645del)
|
rs758008862
|
|
NM_170784.3(MKKS):c.1184A>G (p.His395Arg)
|
|
|
NM_170784.3(MKKS):c.1490G>A (p.Cys497Tyr)
|
rs2122219712
|
|
NM_170784.3(MKKS):c.1526A>T (p.Asn509Ile)
|
|
|
NM_176824.3(BBS7):c.446A>C (p.Asp149Ala)
|
|
|
NM_176824.3(BBS7):c.758G>A (p.Gly253Glu)
|
|
|
NM_198428.3(BBS9):c.557A>G (p.Tyr186Cys)
|
|
|
NM_206933.4(USH2A):c.14537C>T (p.Ser4846Phe)
|
|
|
NM_206933.4(USH2A):c.8324T>G (p.Val2775Gly)
|
|
|