NM_001128178.3(NPHP1):c.232T>C (p.Tyr78His)
|
rs140446520
|
0.00127
|
NM_206933.4(USH2A):c.1966G>A (p.Asp656Asn)
|
rs146824138
|
0.00071
|
NM_001378615.1(CC2D2A):c.1041C>T (p.Asp347=)
|
rs371086728
|
0.00056
|
NM_015272.5(RPGRIP1L):c.171G>T (p.Leu57Phe)
|
rs146925098
|
0.00031
|
NM_015272.5(RPGRIP1L):c.628A>G (p.Asn210Asp)
|
rs146584570
|
0.00024
|
NM_024649.5(BBS1):c.478C>T (p.Arg160Trp)
|
rs199633103
|
0.00006
|
NM_001378615.1(CC2D2A):c.3065G>A (p.Arg1022Gln)
|
rs770896540
|
0.00004
|
NM_016343.4(CENPF):c.8818G>C (p.Glu2940Gln)
|
rs535739714
|
0.00004
|
NM_001369.3(DNAH5):c.11583C>A (p.Ser3861Arg)
|
rs576096758
|
0.00003
|
NM_001372.4(DNAH9):c.11666C>G (p.Ser3889Ter)
|
rs1355800948
|
0.00003
|
NM_025114.4(CEP290):c.1669C>T (p.Arg557Cys)
|
rs561018129
|
0.00003
|
NM_025114.4(CEP290):c.514A>C (p.Lys172Gln)
|
rs765944337
|
0.00003
|
NM_019892.6(INPP5E):c.1402C>T (p.Arg468Cys)
|
rs375909217
|
0.00002
|
NM_019892.6(INPP5E):c.1666-12A>G
|
rs372545147
|
0.00002
|
NM_001199397.3(NEK1):c.3295G>C (p.Asp1099His)
|
rs765205496
|
0.00001
|
NM_001369.3(DNAH5):c.3013A>T (p.Asn1005Tyr)
|
rs770975422
|
0.00001
|
NM_001378615.1(CC2D2A):c.2999A>T (p.Glu1000Val)
|
rs773881370
|
0.00001
|
NM_017950.4(CCDC40):c.1807G>A (p.Glu603Lys)
|
rs948532763
|
0.00001
|
NM_153240.5(NPHP3):c.1275+3A>T
|
rs370712498
|
0.00001
|
NM_198525.3(KIF7):c.2978G>A (p.Arg993Gln)
|
rs746107537
|
0.00001
|
NM_198525.3(KIF7):c.3326C>T (p.Thr1109Met)
|
rs189960711
|
0.00001
|
NM_001199397.3(NEK1):c.1496A>T (p.Asp499Val)
|
rs1762076570
|
|
NM_001277115.2(DNAH11):c.5094+4A>G
|
rs769984539
|
|
NM_001369.3(DNAH5):c.13369T>G (p.Trp4457Gly)
|
rs1427121789
|
|
NM_001372.4(DNAH9):c.308dup (p.Leu104fs)
|
rs769795916
|
|
NM_001377.3(DYNC2H1):c.6310C>T (p.Pro2104Ser)
|
rs1861751321
|
|
NM_017950.4(CCDC40):c.2832+306G>T
|
rs1435853783
|
|
NM_019892.6(INPP5E):c.1312G>C (p.Asp438His)
|
rs1835733198
|
|
NM_025114.4(CEP290):c.3541G>C (p.Glu1181Gln)
|
rs1466311097
|
|
NM_025114.4(CEP290):c.6842A>T (p.Glu2281Val)
|
rs2033943524
|
|
NM_206933.4(USH2A):c.14027A>G (p.Gln4676Arg)
|
rs397517987
|
|