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_000232.5(SGCB):c.31C>G (p.Gln11Glu)
|
rs752492870
|
0.00023
|
NM_000271.5(NPC1):c.3550G>A (p.Val1184Met)
|
rs767795351
|
0.00011
|
NM_015102.5(NPHP4):c.2930C>T (p.Thr977Met)
|
rs569364202
|
0.00006
|
NM_000260.4(MYO7A):c.5086C>T (p.Arg1696Trp)
|
rs781335672
|
0.00002
|
NM_001378454.1(ALMS1):c.716C>T (p.Ala239Val)
|
rs370830919
|
0.00002
|
NM_031475.3(ESPN):c.1870G>A (p.Ala624Thr)
|
rs758680191
|
0.00002
|
NM_000070.3(CAPN3):c.1504A>G (p.Ile502Val)
|
rs755433765
|
0.00001
|
NM_000260.4(MYO7A):c.3245C>T (p.Thr1082Met)
|
rs377393431
|
0.00001
|
NM_000492.4(CFTR):c.3468+6T>C
|
rs547442588
|
0.00001
|
NM_001287.6(CLCN7):c.641A>G (p.Asn214Ser)
|
rs367567630
|
0.00001
|
NM_080680.3(COL11A2):c.3059G>A (p.Arg1020Gln)
|
rs779998311
|
0.00001
|
NM_000023.4(SGCA):c.37G>A (p.Val13Ile)
|
|
|
NM_000271.5(NPC1):c.1408G>C (p.Ala470Pro)
|
|
|
NM_000271.5(NPC1):c.2509A>G (p.Ile837Val)
|
rs756239485
|
|
NM_000329.3(RPE65):c.644-5T>A
|
rs2100819923
|
|
NM_000391.4(TPP1):c.1080C>A (p.Asp360Glu)
|
rs1564854760
|
|
NM_001042702.5(PJVK):c.370G>A (p.Val124Met)
|
|
|
NM_001080414.4(CCDC88C):c.161+5G>A
|
rs1887078001
|
|
NM_001130987.2(DYSF):c.1493+2dup
|
rs753885022
|
|
NM_001267550.2(TTN):c.97708T>C (p.Tyr32570His)
|
|
|
NM_001287.6(CLCN7):c.1165G>A (p.Gly389Arg)
|
rs1555465003
|
|
NM_001378454.1(ALMS1):c.11326C>T (p.His3776Tyr)
|
rs2104107559
|
|
NM_001378609.3(OTOGL):c.6161G>A (p.Cys2054Tyr)
|
rs962629988
|
|
NM_001384140.1(PCDH15):c.1987C>G (p.Leu663Val)
|
|
|
NM_001384140.1(PCDH15):c.4671+1393G>C
|
|
|
NM_006383.4(CIB2):c.9C>G (p.Asn3Lys)
|
|
|
NM_014780.5(CUL7):c.1000C>A (p.Gln334Lys)
|
rs1561894798
|
|
NM_015102.5(NPHP4):c.2029C>T (p.Pro677Ser)
|
rs547495754
|
|
NM_016356.5(DCDC2):c.967G>C (p.Gly323Arg)
|
rs146587418
|
|
NM_018429.3(BDP1):c.5543G>C (p.Arg1848Pro)
|
|
|
NM_022124.6(CDH23):c.2746G>A (p.Asp916Asn)
|
rs1318444606
|
|
NM_022124.6(CDH23):c.9380+5G>C
|
|
|
NM_024678.6(NARS2):c.1361A>G (p.Gln454Arg)
|
rs1399346230
|
|
NM_024989.4(PGAP1):c.2286+5G>A
|
rs937847069
|
|
NM_032806.6(POMGNT2):c.255C>G (p.Cys85Trp)
|
|
|
NM_201384.3(PLEC):c.7895C>T (p.Ala2632Val)
|
|
|
NM_206933.4(USH2A):c.14683A>G (p.Ser4895Gly)
|
rs1469032409
|
|
NM_206933.4(USH2A):c.6730G>A (p.Val2244Met)
|
rs550772689
|
|