NM_017777.4(MKS1):c.857A>G (p.Asp286Gly)
|
rs151023718
|
0.00083
|
NM_025114.4(CEP290):c.1670G>A (p.Arg557His)
|
rs184018899
|
0.00064
|
NM_001378615.1(CC2D2A):c.3046G>A (p.Glu1016Lys)
|
rs373960465
|
0.00053
|
NM_025114.4(CEP290):c.1908A>T (p.Lys636Asn)
|
rs199747962
|
0.00032
|
NM_001163809.2(WDR81):c.4778T>C (p.Leu1593Pro)
|
rs149405514
|
0.00015
|
NM_016529.6(ATP8A2):c.2896A>G (p.Ile966Val)
|
rs202061089
|
0.00013
|
NM_025114.4(CEP290):c.671C>T (p.Thr224Ile)
|
rs200587974
|
0.00013
|
NM_001077418.3(TMEM231):c.621C>G (p.Asp207Glu)
|
rs372018476
|
0.00012
|
NM_017777.4(MKS1):c.1601G>A (p.Arg534Gln)
|
rs199910690
|
0.00011
|
NM_025114.4(CEP290):c.3773A>G (p.Asn1258Ser)
|
rs200830750
|
0.00010
|
NM_025114.4(CEP290):c.5164A>G (p.Thr1722Ala)
|
rs375817905
|
0.00010
|
NM_025114.4(CEP290):c.5284C>T (p.Arg1762Cys)
|
rs373307908
|
0.00010
|
NM_025114.4(CEP290):c.343A>G (p.Asn115Asp)
|
rs140236736
|
0.00007
|
NM_025114.4(CEP290):c.2174A>C (p.Glu725Ala)
|
rs375038986
|
0.00005
|
NM_025114.4(CEP290):c.5186G>A (p.Arg1729Gln)
|
rs535531689
|
0.00004
|
NM_025114.4(CEP290):c.814G>A (p.Asp272Asn)
|
rs866480852
|
0.00004
|
NM_001163809.2(WDR81):c.2494G>A (p.Glu832Lys)
|
rs928788426
|
0.00003
|
NM_017777.4(MKS1):c.322C>T (p.Arg108Cys)
|
rs201476674
|
0.00003
|
NM_025114.4(CEP290):c.1192G>T (p.Ala398Ser)
|
rs764079993
|
0.00003
|
NM_017777.4(MKS1):c.1613G>A (p.Arg538His)
|
rs557678962
|
0.00002
|
NM_001163809.2(WDR81):c.5179+6C>T
|
rs748777672
|
0.00001
|
NM_015272.5(RPGRIP1L):c.3116A>G (p.Gln1039Arg)
|
rs181022346
|
0.00001
|
NM_016529.6(ATP8A2):c.1976G>A (p.Arg659Gln)
|
rs566960742
|
0.00001
|
NM_017777.4(MKS1):c.791C>T (p.Thr264Met)
|
rs561482424
|
0.00001
|
NM_025114.4(CEP290):c.2068A>C (p.Asn690His)
|
rs398124411
|
0.00001
|
NM_025114.4(CEP290):c.2551G>A (p.Val851Ile)
|
rs764963626
|
0.00001
|
NM_025114.4(CEP290):c.79A>G (p.Asn27Asp)
|
rs753760503
|
0.00001
|
NM_001163809.2(WDR81):c.1045G>C (p.Val349Leu)
|
rs150798889
|
|
NM_001378615.1(CC2D2A):c.676G>A (p.Glu226Lys)
|
rs1716561509
|
|
NM_017777.4(MKS1):c.1163C>A (p.Ser388Tyr)
|
|
|
NM_017777.4(MKS1):c.1447A>C (p.Thr483Pro)
|
|
|
NM_017777.4(MKS1):c.396T>G (p.Asp132Glu)
|
|
|
NM_017777.4(MKS1):c.418-79G>T
|
|
|
NM_017777.4(MKS1):c.811C>A (p.His271Asn)
|
rs201771125
|
|
NM_017777.4(MKS1):c.955G>A (p.Val319Ile)
|
rs1393510784
|
|
NM_025114.4(CEP290):c.1624-5T>G
|
rs142742071
|
|
NM_025114.4(CEP290):c.2245C>T (p.Leu749Phe)
|
rs2038674474
|
|
NM_025114.4(CEP290):c.3251G>A (p.Arg1084Gln)
|
|
|
NM_025114.4(CEP290):c.4860_4866delinsA (p.Phe1620_Arg1622delinsLeu)
|
|
|
NM_025114.4(CEP290):c.6067A>C (p.Arg2023=)
|
rs764861728
|
|
NM_025114.4(CEP290):c.7156A>G (p.Lys2386Glu)
|
|
|
NM_025114.4(CEP290):c.[943-4C>T;943-8A>T]
|
|
|