NM_024809.5(TCTN2):c.*45G>A
|
rs142969969
|
0.01053
|
NM_153240.4(NPHP3):c.-70C>T
|
rs886058006
|
0.00056
|
NM_001378615.1(CC2D2A):c.501G>T (p.Lys167Asn)
|
rs190694237
|
0.00026
|
NM_001378615.1(CC2D2A):c.4667A>T (p.Asp1556Val)
|
rs201502401
|
0.00020
|
NM_153240.5(NPHP3):c.1813C>T (p.Arg605Cys)
|
rs144731534
|
0.00014
|
NM_153240.5(NPHP3):c.*231A>T
|
rs753577987
|
0.00007
|
NM_015272.5(RPGRIP1L):c.*901A>G
|
rs750903762
|
0.00006
|
NM_153240.5(NPHP3):c.233G>T (p.Gly78Val)
|
rs202142404
|
0.00006
|
NM_015272.5(RPGRIP1L):c.3362C>T (p.Pro1121Leu)
|
rs886052093
|
0.00003
|
NM_001378615.1(CC2D2A):c.2486+8A>G
|
rs749186859
|
0.00001
|
NM_017777.4(MKS1):c.214G>A (p.Glu72Lys)
|
rs753620277
|
0.00001
|
NM_001009894.3(RLIG1):c.*618TATT[1]
|
rs886049876
|
|
NM_001142301.1(TMEM67):c.-207del
|
rs145334032
|
|
NM_001173990.3(TMEM216):c.230-9G>A
|
rs886048412
|
|
NM_001378615.1(CC2D2A):c.2339-10_2339-9del
|
rs886059157
|
|
NM_001378615.1(CC2D2A):c.3365C>G (p.Pro1122Arg)
|
rs886059182
|
|
NM_015272.5(RPGRIP1L):c.3617-13dup
|
rs750499169
|
|
NM_024809.5(TCTN2):c.671C>T (p.Thr224Met)
|
rs376996387
|
|
NM_025114.4(CEP290):c.2484-18GTTTT[4]
|
rs745522483
|
|
NM_025114.4(CEP290):c.3309+2_3309+3dup
|
rs886049881
|
|
NM_025114.4(CEP290):c.442-11del
|
rs199511358
|
|
NM_025114.4(CEP290):c.442-22_442-21dup
|
rs199511358
|
|
NM_025114.4(CEP290):c.442-22dup
|
rs199511358
|
|
NM_025114.4(CEP290):c.5227-14del
|
rs747878752
|
|
NM_025114.4(CEP290):c.7209+11_7209+14del
|
rs750259100
|
|
NM_153240.5(NPHP3):c.*121_*123del
|
rs371974858
|
|
NM_153240.5(NPHP3):c.*650_*651del
|
rs886058000
|
|
NM_153240.5(NPHP3):c.*652_*653del
|
rs886057999
|
|
NM_153240.5(NPHP3):c.*652del
|
rs369921629
|
|
NM_153240.5(NPHP3):c.*654dup
|
rs886057998
|
|
NM_153240.5(NPHP3):c.1525-5del
|
rs762115717
|
|
NM_153240.5(NPHP3):c.3126-12dup
|
rs398124547
|
|
NM_153240.5(NPHP3):c.913A>G (p.Ile305Val)
|
rs886058004
|
|
NM_153704.6(TMEM67):c.119CTTTCC[3] (p.Pro42_Phe43dup)
|
rs886063171
|
|