NM_015102.4(NPHP4):c.-235G>A
|
rs765435500
|
0.00058
|
NM_153240.4(NPHP3):c.-70C>T
|
rs886058006
|
0.00056
|
NM_015102.4(NPHP4):c.-236C>T
|
rs185912310
|
0.00022
|
NM_153240.5(NPHP3):c.1813C>T (p.Arg605Cys)
|
rs144731534
|
0.00014
|
NM_014425.5(INVS):c.2335C>T (p.Arg779Trp)
|
rs370643191
|
0.00008
|
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_014425.5(INVS):c.1317C>T (p.Cys439=)
|
rs886063266
|
0.00001
|
NM_015102.4(NPHP4):c.-225G>A
|
rs886046469
|
0.00001
|
NM_015102.4(NPHP4):c.-237G>C
|
rs867788720
|
0.00001
|
NM_032575.3(GLIS2):c.*1583del
|
rs886052000
|
0.00001
|
NM_001128178.3(NPHP1):c.*333AAC[1]
|
rs555468187
|
|
NM_001128178.3(NPHP1):c.635AAG[5] (p.Glu215dup)
|
rs777677768
|
|
NM_001142301.1(TMEM67):c.-207del
|
rs145334032
|
|
NM_014425.5(INVS):c.*466CA[18]
|
rs10527613
|
|
NM_014425.5(INVS):c.*466CA[19]
|
rs10527613
|
|
NM_014425.5(INVS):c.*466CA[21]
|
rs10527613
|
|
NM_014425.5(INVS):c.*466CA[23]
|
rs10527613
|
|
NM_014425.5(INVS):c.*466_*467insTCAC
|
rs200314659
|
|
NM_014425.5(INVS):c.*466_*467insTCACAC
|
rs200314659
|
|
NM_014425.5(INVS):c.1899CAG[1] (p.Ser634del)
|
rs886063267
|
|
NM_014425.5(INVS):c.907-13dup
|
rs750082874
|
|
NM_015272.5(RPGRIP1L):c.3617-13dup
|
rs750499169
|
|
NM_032575.3(GLIS2):c.*291TCC[1]
|
rs377612419
|
|
NM_032575.3(GLIS2):c.*887G>C
|
rs886051997
|
|
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
|
|