|
NM_139319.3(SLC17A8):c.1120G>T (p.Ala374Ser)
|
rs138307707
|
0.00078
|
|
NM_000441.2(SLC26A4):c.1003T>C (p.Phe335Leu)
|
rs111033212
|
0.00077
|
|
NM_004004.6(GJB2):c.-23+1G>A
|
rs80338940
|
0.00017
|
|
NM_006205.3(PDE6H):c.237G>C (p.Gln79His)
|
rs564659543
|
0.00016
|
|
NM_001346022.3(USP45):c.1636A>T (p.Lys546Ter)
|
rs189281869
|
0.00013
|
|
NM_020461.4(TUBGCP6):c.1340T>C (p.Val447Ala)
|
rs985345843
|
0.00009
|
|
NM_000260.4(MYO7A):c.5086C>T (p.Arg1696Trp)
|
rs781335672
|
0.00002
|
|
NM_031475.3(ESPN):c.1870G>A (p.Ala624Thr)
|
rs758680191
|
0.00002
|
|
NM_001029883.3(PCARE):c.1191G>A (p.Trp397Ter)
|
rs777103184
|
0.00001
|
|
NM_080680.3(COL11A2):c.3059G>A (p.Arg1020Gln)
|
rs779998311
|
0.00001
|
|
Multiple alleles
|
|
|
|
NM_000260.4(MYO7A):c.496del (p.Glu166fs)
|
rs111033448
|
|
|
NM_000283.4(PDE6B):c.2117A>T (p.Lys706Met)
|
|
|
|
NM_000329.3(RPE65):c.1418T>A (p.Val473Asp)
|
rs62637007
|
|
|
NM_000329.3(RPE65):c.644-5T>A
|
rs2100819923
|
|
|
NM_000350.3(ABCA4):c.4838del (p.Asp1613fs)
|
rs61752438
|
|
|
NM_000883.4(IMPDH1):c.968A>G (p.Lys323Arg)
|
rs1798086782
|
|
|
NM_001034853.2(RPGR):c.2512del (p.Glu838fs)
|
rs2147197281
|
|
|
NM_001042702.5(PJVK):c.370G>A (p.Val124Met)
|
|
|
|
NM_001128228.3(TPRN):c.1525_1532del (p.Pro509fs)
|
|
|
|
NM_001256317.3(TMPRSS3):c.1216T>C (p.Cys406Arg)
|
rs773780151
|
|
|
NM_001378457.1(DMXL2):c.2763A>T (p.Leu921Phe)
|
|
|
|
NM_001378457.1(DMXL2):c.6247G>A (p.Ala2083Thr)
|
rs778580507
|
|
|
NM_001378609.3(OTOGL):c.6161G>A (p.Cys2054Tyr)
|
rs962629988
|
|
|
NM_001384140.1(PCDH15):c.1987C>G (p.Leu663Val)
|
|
|
|
NM_003322.6(TULP1):c.647C>T (p.Ala216Val)
|
rs754221623
|
|
|
NM_004004.6(GJB2):c.231G>A (p.Trp77Ter)
|
rs80338944
|
|
|
NM_006383.4(CIB2):c.9C>G (p.Asn3Lys)
|
|
|
|
NM_016356.5(DCDC2):c.967G>C (p.Gly323Arg)
|
rs146587418
|
|
|
NM_018429.3(BDP1):c.5543G>C (p.Arg1848Pro)
|
|
|
|
NM_019098.5(CNGB3):c.1781+1G>T
|
rs1375507464
|
|
|
NM_020366.4(RPGRIP1):c.1800_1805del (p.Ser601_Leu602del)
|
|
|
|
NM_020461.3(TUBGCP6):c.[3139C>T];[5140G>A]
|
|
|
|
NM_020461.4(TUBGCP6):c.317A>T (p.Glu106Val)
|
|
|
|
NM_022124.6(CDH23):c.2746G>A (p.Asp916Asn)
|
rs1318444606
|
|
|
NM_022124.6(CDH23):c.9380+5G>C
|
|
|
|
NM_206933.4(USH2A):c.5083del (p.Ser1695fs)
|
rs1553300016
|
|