NM_153717.3(EVC):c.284A>G (p.Asp95Gly)
|
rs41269547
|
0.00561
|
NM_015102.5(NPHP4):c.3329C>T (p.Ala1110Val)
|
rs139767853
|
0.00374
|
NM_198525.3(KIF7):c.2501A>G (p.Gln834Arg)
|
rs138354681
|
0.00308
|
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg)
|
rs113624356
|
0.00212
|
NM_015102.5(NPHP4):c.2965G>A (p.Glu989Lys)
|
rs116606479
|
0.00068
|
NM_138694.4(PKHD1):c.107C>T (p.Thr36Met)
|
rs137852944
|
0.00048
|
NM_014956.5(CEP164):c.4060G>A (p.Asp1354Asn)
|
rs200520898
|
0.00017
|
NM_001384732.1(CPLANE1):c.424G>A (p.Glu142Lys)
|
rs756856188
|
0.00014
|
NM_017909.4(RMND1):c.713A>G (p.Asn238Ser)
|
rs144972972
|
0.00013
|
NM_001134831.2(AHI1):c.1267C>T (p.Gln423Ter)
|
rs777668842
|
0.00012
|
NM_170784.3(MKKS):c.110A>G (p.Tyr37Cys)
|
rs74315396
|
0.00011
|
NM_014425.5(INVS):c.2695C>T (p.Arg899Ter)
|
rs200844390
|
0.00009
|
NM_014714.4(IFT140):c.634G>A (p.Gly212Arg)
|
rs201188361
|
0.00008
|
NM_138694.4(PKHD1):c.4870C>T (p.Arg1624Trp)
|
rs200391019
|
0.00006
|
NM_138694.4(PKHD1):c.5912G>A (p.Gly1971Asp)
|
rs180675584
|
0.00006
|
NM_015102.5(NPHP4):c.3010dup (p.Thr1004fs)
|
rs748950922
|
0.00004
|
NM_153240.5(NPHP3):c.1928C>T (p.Pro643Leu)
|
rs760831781
|
0.00004
|
NM_176824.3(BBS7):c.187G>A (p.Gly63Arg)
|
rs754579374
|
0.00004
|
NM_025132.4(WDR19):c.3722C>T (p.Pro1241Leu)
|
rs576113399
|
0.00003
|
NM_001377.3(DYNC2H1):c.10042+2T>G
|
rs1261505725
|
0.00002
|
NM_003052.5(SLC34A1):c.437C>T (p.Pro146Leu)
|
rs548844573
|
0.00002
|
NM_138694.4(PKHD1):c.5830G>A (p.Asp1944Asn)
|
rs774290802
|
0.00002
|
NM_014425.5(INVS):c.464G>A (p.Trp155Ter)
|
rs1007394906
|
0.00001
|
NM_014714.4(IFT140):c.2176C>G (p.Pro726Ala)
|
rs1057518064
|
0.00001
|
NM_015102.5(NPHP4):c.1075C>T (p.Gln359Ter)
|
rs1430741326
|
0.00001
|
NM_015102.5(NPHP4):c.1228C>T (p.Gln410Ter)
|
rs1237376396
|
0.00001
|
NM_015102.5(NPHP4):c.3766C>T (p.Gln1256Ter)
|
rs775612958
|
0.00001
|
NM_015662.3(IFT172):c.1295G>A (p.Arg432His)
|
rs1327376049
|
0.00001
|
NM_025132.4(WDR19):c.3526C>T (p.Leu1176Phe)
|
rs1735527919
|
0.00001
|
NM_133433.4(NIPBL):c.2741C>G (p.Thr914Ser)
|
rs1329800608
|
0.00001
|
NM_138694.4(PKHD1):c.8411T>A (p.Met2804Lys)
|
rs794727759
|
0.00001
|
NM_176824.3(BBS7):c.878A>C (p.Gln293Pro)
|
rs889417696
|
0.00001
|
NM_000272.4:c.(1520+1_1521-1)_(1697+1_1698-1)del
|
|
|
NM_001023570.4(IQCB1):c.758del (p.Cys253fs)
|
rs770441610
|
|
NM_001023570.4(IQCB1):c.897_900dup (p.Ile301fs)
|
rs745340459
|
|
NM_001128178.3(NPHP1):c.555dup (p.Pro186fs)
|
rs766524637
|
|
NM_001134831.2(AHI1):c.2246C>G (p.Ser749Ter)
|
rs766069291
|
|
NM_001378454.1(ALMS1):c.7580dup (p.Tyr2527Ter)
|
rs1672034468
|
|
NM_001378615.1(CC2D2A):c.2671G>C (p.Glu891Gln)
|
rs863225178
|
|
NM_001378615.1(CC2D2A):c.3056G>A (p.Arg1019Gln)
|
rs746926711
|
|
NM_001384732.1(CPLANE1):c.1819del (p.Tyr607fs)
|
rs777686211
|
|
NM_001384732.1(CPLANE1):c.1840T>C (p.Cys614Arg)
|
rs1796552273
|
|
NM_001384732.1(CPLANE1):c.6430C>G (p.Pro2144Ala)
|
rs1779345100
|
|
NM_014425.5(INVS):c.491A>G (p.His164Arg)
|
rs1831445914
|
|
NM_015102.5(NPHP4):c.1998_1999del (p.Tyr667fs)
|
rs1644833186
|
|
NM_015102.5(NPHP4):c.2327del (p.Pro776fs)
|
rs1643882944
|
|
NM_015102.5(NPHP4):c.871_889delinsC (p.Val291_Phe297delinsLeu)
|
rs1553186265
|
|
NM_015662.3(IFT172):c.2327C>T (p.Ala776Val)
|
rs1317766293
|
|
NM_017909.4(RMND1):c.829_830+2del
|
rs1780336606
|
|
NM_024685.4(BBS10):c.2122_2123del (p.Lys708fs)
|
rs1951753208
|
|
NM_024685.4(BBS10):c.931T>G (p.Ser311Ala)
|
rs137852837
|
|
NM_025114.4(CEP290):c.21G>T (p.Trp7Cys)
|
rs62635288
|
|
NM_025114.4(CEP290):c.4102G>C (p.Asp1368His)
|
rs184143186
|
|
NM_025114.4(CEP290):c.4966_4967del (p.Glu1656fs)
|
rs756302731
|
|
NM_138694.4(PKHD1):c.1032_1033del (p.Glu345fs)
|
rs1446729264
|
|
NM_138694.4(PKHD1):c.2172del (p.Gly726fs)
|
rs1806601043
|
|
NM_138694.4(PKHD1):c.8351A>G (p.Tyr2784Cys)
|
rs1793710520
|
|
NM_170784.3(MKKS):c.592_593del (p.Lys198fs)
|
rs2064903228
|
|