|
NM_001379500.1(COL18A1):c.3539G>A (p.Arg1180Gln)
|
rs200484625
|
0.00148
|
|
NM_001851.6(COL9A1):c.902C>T (p.Pro301Leu)
|
rs192047082
|
0.00083
|
|
NM_001142800.2(EYS):c.2027C>T (p.Thr676Met)
|
rs199944222
|
0.00021
|
|
NM_000322.5(PRPH2):c.367C>T (p.Arg123Trp)
|
rs563581127
|
0.00019
|
|
NM_001379500.1(COL18A1):c.3491C>T (p.Pro1164Leu)
|
rs532834770
|
0.00009
|
|
NM_006017.3(PROM1):c.1946C>T (p.Ser649Leu)
|
rs761911901
|
0.00003
|
|
NM_001012720.2(RGR):c.328G>A (p.Ala110Thr)
|
rs780231448
|
0.00001
|
|
NM_001252024.2(TRPM1):c.3533A>G (p.His1178Arg)
|
rs776483887
|
0.00001
|
|
NM_001376.5(DYNC1H1):c.10970G>C (p.Gly3657Ala)
|
rs761427653
|
0.00001
|
|
NM_002098.6(GUCA1B):c.422C>T (p.Thr141Ile)
|
rs769924304
|
0.00001
|
|
NM_025099.6(CTC1):c.1871G>A (p.Arg624Gln)
|
rs377423237
|
0.00001
|
|
NM_000096.4(CP):c.3028G>A (p.Val1010Ile)
|
|
|
|
NM_000180.4(GUCY2D):c.2836G>C (p.Ala946Pro)
|
|
|
|
NM_000180.4(GUCY2D):c.571dup (p.Gln191fs)
|
|
|
|
NM_000329.3(RPE65):c.1087C>T (p.Pro363Ser)
|
|
|
|
NM_000329.3(RPE65):c.1128G>A (p.Lys376=)
|
|
|
|
NM_000350.3(ABCA4):c.6083C>G (p.Thr2028Arg)
|
|
|
|
NM_001034853.2(RPGR):c.1496T>C (p.Ile499Thr)
|
|
|
|
NM_001098.3(ACO2):c.104G>C (p.Ser35Thr)
|
|
|
|
NM_001243925.2(MAPKAPK3):c.900C>G (p.Asn300Lys)
|
|
|
|
NM_001376.5(DYNC1H1):c.10117T>C (p.Ser3373Pro)
|
rs2152591676
|
|
|
NM_001376.5(DYNC1H1):c.10550C>T (p.Ala3517Val)
|
|
|
|
NM_001376.5(DYNC1H1):c.195G>T (p.Met65Ile)
|
|
|
|
NM_001376.5(DYNC1H1):c.1963G>A (p.Asp655Asn)
|
|
|
|
NM_001376.5(DYNC1H1):c.3460G>A (p.Glu1154Lys)
|
|
|
|
NM_001376.5(DYNC1H1):c.6703C>T (p.Arg2235Cys)
|
rs2048263659
|
|
|
NM_001376.5(DYNC1H1):c.8324A>G (p.Glu2775Gly)
|
rs2152583834
|
|
|
NM_001376.5(DYNC1H1):c.9286G>A (p.Asp3096Asn)
|
|
|
|
NM_001844.5(COL2A1):c.1513C>T (p.Pro505Ser)
|
rs865903887
|
|
|
NM_001844.5(COL2A1):c.26C>G (p.Thr9Arg)
|
|
|
|
NM_001844.5(COL2A1):c.4337del (p.Gly1446fs)
|
rs1565664375
|
|
|
NM_001851.6(COL9A1):c.443G>A (p.Gly148Asp)
|
|
|
|
NM_001854.4(COL11A1):c.1630-3T>C
|
|
|
|
NM_001854.4(COL11A1):c.3515C>T (p.Pro1172Leu)
|
|
|
|
NM_002335.4(LRP5):c.527T>A (p.Ile176Asn)
|
|
|
|
NM_003322.6(TULP1):c.1612A>C (p.Lys538Gln)
|
rs1768748235
|
|
|
NM_004523.4(KIF11):c.532G>C (p.Val178Leu)
|
|
|
|
NM_006269.2(RP1):c.4535A>G (p.Lys1512Arg)
|
|
|
|
NM_006734.4(HIVEP2):c.1610C>T (p.Ser537Phe)
|
|
|
|
NM_014014.5(SNRNP200):c.3688A>G (p.Ser1230Gly)
|
rs372772120
|
|
|
NM_020461.4(TUBGCP6):c.3689C>G (p.Ser1230Trp)
|
rs201398979
|
|
|
NM_021615.5(CHST6):c.7C>A (p.Leu3Met)
|
rs780317850
|
|
|
NM_025099.6(CTC1):c.14G>A (p.Arg5Gln)
|
rs1449419140
|
|
|
NM_025099.6(CTC1):c.1595C>T (p.Pro532Leu)
|
|
|
|
NM_033629.6(TREX1):c.650G>A (p.Arg217Gln)
|
rs775117062
|
|
|
NM_148960.3(CLDN19):c.473+1G>T
|
|
|
|
NM_206933.4(USH2A):c.15574A>G (p.Lys5192Glu)
|
|
|
|
NM_206933.4(USH2A):c.6730G>A (p.Val2244Met)
|
rs550772689
|
|
|
NM_206933.4(USH2A):c.7526G>A (p.Arg2509Gln)
|
|
|