|
NM_001142800.2(EYS):c.6714del (p.Ile2239fs)
|
rs752953889
|
0.00003
|
|
NM_080680.3(COL11A2):c.97G>A (p.Asp33Asn)
|
rs1268538634
|
0.00001
|
|
NM_000283.4(PDE6B):c.1070T>A (p.Ile357Asn)
|
|
|
|
NM_000307.5(POU3F4):c.249dup (p.Gly84fs)
|
rs1569280138
|
|
|
NM_000390.4(CHM):c.703-2A>G
|
rs2147667674
|
|
|
NM_000390.4(CHM):c.846dup (p.Asn283Ter)
|
rs2147665855
|
|
|
NM_001031710.3(KLHL7):c.1197_1200del (p.Phe400fs)
|
rs2128469724
|
|
|
NM_001034853.2(RPGR):c.197A>G (p.Gln66Arg)
|
|
|
|
NM_001034853.2(RPGR):c.2943_2944del (p.Glu982fs)
|
|
|
|
NM_001042517.2(DIAPH3):c.517C>G (p.Gln173Glu)
|
rs1594483260
|
|
|
NM_001256317.3(TMPRSS3):c.771C>A (p.His257Gln)
|
rs2052560214
|
|
|
NM_001256789.3(CACNA1F):c.1931C>A (p.Ser644Tyr)
|
|
|
|
NM_001292063.2(OTOG):c.1198C>T (p.Gln400Ter)
|
rs2134007236
|
|
|
NM_001292063.2(OTOG):c.996G>T (p.Gln332His)
|
rs1294149176
|
|
|
NM_001354604.2(MITF):c.979A>C (p.Ile327Leu)
|
rs2107529990
|
|
|
NM_004004.6(GJB2):c.172C>T (p.Pro58Ser)
|
rs1064797090
|
|
|
NM_004523.4(KIF11):c.489del (p.Tyr164fs)
|
|
|
|
NM_004700.4(KCNQ4):c.859G>A (p.Gly287Ser)
|
rs137853969
|
|
|
NM_004999.4(MYO6):c.2267T>A (p.Val756Glu)
|
rs1777894570
|
|
|
NM_005422.4(TECTA):c.5272+4A>G
|
rs1591461465
|
|
|
NM_005702.4(ERAL1):c.685A>T (p.Ile229Phe)
|
rs2152642391
|
|
|
NM_006343.3(MERTK):c.1296+5G>A
|
rs1553454799
|
|
|
NM_006343.3(MERTK):c.2190-2A>G
|
rs2104423657
|
|
|
NM_014249.4(NR2E3):c.653A>G (p.Asp218Gly)
|
rs2140290038
|
|
|
NM_016239.4(MYO15A):c.343del (p.Arg115fs)
|
|
|
|
NM_016239.4(MYO15A):c.5540del (p.Cys1847fs)
|
|
|
|
NM_016239.4(MYO15A):c.6708C>A (p.Cys2236Ter)
|
|
|
|
NM_016239.4(MYO15A):c.8730C>A (p.Cys2910Ter)
|
rs776201118
|
|
|
NM_016239.4(MYO15A):c.9061C>T (p.Arg3021Ter)
|
rs1567658710
|
|
|
NM_022124.6(CDH23):c.2132_2136del (p.Tyr711fs)
|
rs1554856042
|
|
|
NM_022124.6(CDH23):c.2867A>G (p.Glu956Gly)
|
rs2132740263
|
|
|
NM_022124.6(CDH23):c.3929C>T (p.Ala1310Val)
|
rs483353051
|
|
|
NM_080680.3(COL11A2):c.1218dup (p.Ala407fs)
|
|
|
|
NM_080680.3(COL11A2):c.2128C>T (p.Pro710Ser)
|
rs1583334125
|
|
|
NM_144498.4(OSBPL2):c.572A>G (p.Asn191Ser)
|
rs1385022544
|
|
|
NM_144672.4(OTOA):c.181T>C (p.Ser61Pro)
|
rs369772866
|
|
|
NM_153700.2(STRC):c.1576C>T (p.Arg526Cys)
|
rs1555447608
|
|
|
NM_153700.2(STRC):c.3091C>A (p.Pro1031Thr)
|
rs1595961729
|
|
|
NM_153700.2(STRC):c.4251del (p.Leu1417_Leu1418insTer)
|
rs1366021609
|
|
|
NM_170682.4(P2RX2):c.804_806del (p.Trp268_Asp269delinsCys)
|
|
|
|
NM_206933.4(USH2A):c.4685delinsAT (p.Ser1562fs)
|
|
|
|
NM_206933.4(USH2A):c.4945G>C (p.Gly1649Arg)
|
|
|