NM_138691.3(TMC1):c.1763+3A>G
|
rs370898981
|
0.00056
|
NM_153700.2(STRC):c.4027C>T (p.Gln1343Ter)
|
rs144948296
|
0.00018
|
NM_153700.2(STRC):c.4057C>T (p.Gln1353Ter)
|
rs774312182
|
0.00011
|
NM_022124.6(CDH23):c.6442G>A (p.Asp2148Asn)
|
rs111033271
|
0.00010
|
NM_000372.5(TYR):c.230G>A (p.Arg77Gln)
|
rs61753185
|
0.00006
|
NM_006642.5(SDCCAG8):c.740+356C>T
|
rs397515337
|
0.00006
|
NM_006019.4(TCIRG1):c.1549G>A (p.Asp517Asn)
|
rs369264588
|
0.00004
|
NM_000277.3(PAH):c.250G>T (p.Asp84Tyr)
|
rs62514902
|
0.00003
|
NM_001292063.2(OTOG):c.1666C>T (p.Gln556Ter)
|
rs530874854
|
0.00003
|
NM_015102.5(NPHP4):c.3325C>T (p.Arg1109Ter)
|
rs758275952
|
0.00003
|
NM_025074.7(FRAS1):c.5370C>G (p.Tyr1790Ter)
|
rs757311669
|
0.00003
|
NM_000466.3(PEX1):c.1239+1G>T
|
rs756876301
|
0.00002
|
NM_001171.6(ABCC6):c.4192C>T (p.Arg1398Ter)
|
rs66913554
|
0.00002
|
NM_182961.4(SYNE1):c.21463C>T (p.Arg7155Ter)
|
rs778445117
|
0.00002
|
NM_206933.4(USH2A):c.1859G>T (p.Cys620Phe)
|
rs758571672
|
0.00002
|
NM_000070.3(CAPN3):c.1063C>T (p.Arg355Trp)
|
rs749099493
|
0.00001
|
NM_000091.5(COL4A3):c.1927G>A (p.Gly643Ser)
|
rs778034451
|
0.00001
|
NM_000091.5(COL4A3):c.4783G>A (p.Gly1595Arg)
|
rs766208466
|
0.00001
|
NM_000260.4(MYO7A):c.1900C>T (p.Arg634Ter)
|
rs111033180
|
0.00001
|
NM_000271.5(NPC1):c.743G>T (p.Gly248Val)
|
rs1230538609
|
0.00001
|
NM_000372.5(TYR):c.1036G>T (p.Gly346Ter)
|
rs1013801316
|
0.00001
|
NM_001382391.1(CSPP1):c.2968+1G>T
|
rs587777142
|
0.00001
|
NM_020632.3(ATP6V0A4):c.1346G>A (p.Arg449His)
|
rs1443883930
|
0.00001
|
NM_022124.6(CDH23):c.2289+1G>A
|
rs769433759
|
0.00001
|
NM_138694.4(PKHD1):c.11881C>T (p.Arg3961Ter)
|
rs144193508
|
0.00001
|
NM_153700.2(STRC):c.4543C>T (p.Gln1515Ter)
|
rs756606635
|
0.00001
|
NC_000005.10:g.(90694702_90696936)_(90829187_90840577)del
|
|
|
NM_000091.5(COL4A3):c.3682G>C (p.Gly1228Arg)
|
rs1559913871
|
|
NM_000124.4(ERCC6):c.850G>T (p.Glu284Ter)
|
rs2132621608
|
|
NM_000211.5(ITGB2):c.1959_1960insTC (p.Asn654fs)
|
rs1568879914
|
|
NM_000260.4(MYO7A):c.1976C>A (p.Ser659Ter)
|
rs878853378
|
|
NM_000271.5(NPC1):c.3100G>A (p.Gly1034Arg)
|
rs2058637844
|
|
NM_000277.3(PAH):c.(?_169)_352+?del
|
|
|
NM_000277.3(PAH):c.529G>C (p.Val177Leu)
|
rs199475602
|
|
NM_000372.5(TYR):c.714G>A (p.Trp238Ter)
|
rs1565386964
|
|
NM_000372.5(TYR):c.895C>A (p.Arg299Ser)
|
rs61754374
|
|
NM_001194998.2(CEP152):c.780del (p.Asn260fs)
|
rs1567024512
|
|
NM_001195263.2(PDZD7):c.2089del (p.Ala697fs)
|
rs1055318738
|
|
NM_001287.6(CLCN7):c.2250+1G>T
|
rs1567263375
|
|
NM_001292063.2(OTOG):c.7860G>A (p.Trp2620Ter)
|
rs1565129771
|
|
NM_003384.3(VRK1):c.156_160+3del
|
rs1566696845
|
|
NM_004100.5(EYA4):c.1347C>G (p.Tyr449Ter)
|
rs1562505728
|
|
NM_004937.3(CTNS):c.971-12G>A
|
rs375952052
|
|
NM_005422.4(TECTA):c.3169T>A (p.Cys1057Ser)
|
rs121909059
|
|
NM_005861.4(STUB1):c.885dup (p.Glu296Ter)
|
rs1567283195
|
|
NM_006019.4(TCIRG1):c.1346_1351del (p.Leu449_Gly451delinsArg)
|
rs2134455141
|
|
NM_006019.4(TCIRG1):c.1684C>T (p.Gln562Ter)
|
rs1855655612
|
|
NM_006019.4(TCIRG1):c.418-21A>G
|
rs1855249165
|
|
NM_006642.3:c.1069_1356del
|
|
|
NM_006642.5(SDCCAG8):c.1575del (p.Glu526fs)
|
rs1390963789
|
|
NM_006642.5(SDCCAG8):c.221-2A>G
|
rs797045946
|
|
NM_015340.4(LARS2):c.1115C>G (p.Ser372Ter)
|
rs1559484149
|
|
NM_017825.3(ADPRS):c.545A>G (p.His182Arg)
|
|
|
NM_022124.6(CDH23):c.4210-2A>G
|
rs557620034
|
|
NM_022124.6(CDH23):c.8061C>G (p.Tyr2687Ter)
|
rs1564803868
|
|
NM_022124.6(CDH23):c.945+1G>A
|
rs727502919
|
|
NM_024649.5(BBS1):c.1100T>A (p.Ile367Asn)
|
rs1565286202
|
|
NM_025114.4(CEP290):c.2251C>T (p.Arg751Ter)
|
rs753884599
|
|
NM_031475.3(ESPN):c.2446G>T (p.Glu816Ter)
|
rs1485674839
|
|
NM_080680.3(COL11A2):c.4135C>T (p.Arg1379Ter)
|
rs121912950
|
|
NM_138691.3(TMC1):c.1714G>A (p.Asp572Asn)
|
rs121908072
|
|
NM_138691.3(TMC1):c.885-2A>C
|
rs1564554148
|
|
NM_138694.4(PKHD1):c.1227del (p.Thr410fs)
|
rs1808421350
|
|
NM_138694.4(PKHD1):c.6410_6423del (p.Arg2137fs)
|
rs2127663896
|
|
NM_138694.4(PKHD1):c.8239G>T (p.Glu2747Ter)
|
rs794727756
|
|
NM_144672.4(OTOA):c.2295del (p.Thr766fs)
|
rs774366025
|
|
NM_153700.2(STRC):c.3499_4701+1del
|
|
|
NM_176824.3(BBS7):c.389_390del (p.Asn130fs)
|
rs863224530
|
|
NM_182961.4(SYNE1):c.3595G>T (p.Glu1199Ter)
|
rs2098603169
|
|
NM_206933.4(USH2A):c.647T>G (p.Val216Gly)
|
rs1571801514
|
|