NM_001134831.2(AHI1):c.986G>T (p.Arg329Leu)
|
rs139944375
|
0.00111
|
NM_153704.6(TMEM67):c.958A>T (p.Ser320Cys)
|
rs111619594
|
0.00089
|
NM_001128178.3(NPHP1):c.953C>T (p.Thr318Ile)
|
rs140469160
|
0.00088
|
NM_015272.5(RPGRIP1L):c.3706C>T (p.Arg1236Cys)
|
rs151332923
|
0.00061
|
NM_001378615.1(CC2D2A):c.3046G>A (p.Glu1016Lys)
|
rs373960465
|
0.00053
|
NM_001382391.1(CSPP1):c.1987A>G (p.Arg663Gly)
|
rs199996939
|
0.00034
|
NM_001128178.3(NPHP1):c.771+169G>T
|
rs150520157
|
0.00027
|
NM_001378615.1(CC2D2A):c.4852C>T (p.Arg1618Cys)
|
rs201219078
|
0.00023
|
NM_001378615.1(CC2D2A):c.2039G>A (p.Arg680His)
|
rs200236654
|
0.00021
|
NM_001044385.3(TMEM237):c.287C>T (p.Ser96Phe)
|
rs376578633
|
0.00020
|
NM_153704.6(TMEM67):c.2009C>T (p.Thr670Ile)
|
rs370004832
|
0.00015
|
NM_153704.6(TMEM67):c.2299G>A (p.Val767Ile)
|
rs201949664
|
0.00013
|
NM_001378615.1(CC2D2A):c.1837G>A (p.Glu613Lys)
|
rs201439617
|
0.00010
|
NM_001077418.3(TMEM231):c.373C>G (p.Pro125Ala)
|
rs1442638461
|
0.00009
|
NM_001378615.1(CC2D2A):c.4314+12C>T
|
rs775304664
|
0.00009
|
NM_001378615.1(CC2D2A):c.2483G>A (p.Arg828Gln)
|
rs375243763
|
0.00008
|
NM_001382391.1(CSPP1):c.3109G>A (p.Val1037Ile)
|
rs200546493
|
0.00007
|
NM_001382391.1(CSPP1):c.2804A>G (p.Asp935Gly)
|
rs374765060
|
0.00006
|
NM_153704.6(TMEM67):c.653G>C (p.Gly218Ala)
|
rs202036490
|
0.00006
|
NM_001382391.1(CSPP1):c.3275C>T (p.Ser1092Leu)
|
rs768603321
|
0.00004
|
NM_015272.5(RPGRIP1L):c.767C>T (p.Thr256Ile)
|
rs151174849
|
0.00003
|
NM_025114.4(CEP290):c.6752C>G (p.Ala2251Gly)
|
rs758864226
|
0.00003
|
NM_001382391.1(CSPP1):c.3292C>T (p.Arg1098Trp)
|
rs759630451
|
0.00002
|
NM_001134831.2(AHI1):c.362A>G (p.Lys121Arg)
|
rs140836078
|
0.00001
|
NM_001378615.1(CC2D2A):c.3015-9A>C
|
rs1010285962
|
0.00001
|
NM_015272.5(RPGRIP1L):c.3220+17A>C
|
rs1204073957
|
0.00001
|
NM_018718.3(CEP41):c.1004G>A (p.Arg335Lys)
|
rs782672149
|
0.00001
|
NM_018718.3(CEP41):c.1087A>G (p.Ser363Gly)
|
rs201504407
|
0.00001
|
NM_153704.6(TMEM67):c.679G>C (p.Ala227Pro)
|
rs767886819
|
0.00001
|
NM_001077418.3(TMEM231):c.140-33C>G
|
rs901311435
|
|
NM_001077418.3(TMEM231):c.377T>C (p.Leu126Pro)
|
rs1348700844
|
|
NM_001128178.3(NPHP1):c.1708G>A (p.Ala570Thr)
|
rs372893275
|
|
NM_001128178.3(NPHP1):c.1933G>A (p.Ala645Thr)
|
rs201077898
|
|
NM_001134831.2(AHI1):c.1621G>T (p.Asp541Tyr)
|
rs1787553528
|
|
NM_001378615.1(CC2D2A):c.3160C>A (p.Pro1054Thr)
|
rs1719718448
|
|
NM_001382391.1(CSPP1):c.2387A>G (p.Glu796Gly)
|
rs1827120184
|
|
NM_001382391.1(CSPP1):c.959T>G (p.Met320Arg)
|
rs1313170509
|
|
NM_015272.5(RPGRIP1L):c.1499C>A (p.Ala500Glu)
|
rs1029054579
|
|
NM_015272.5(RPGRIP1L):c.1505A>T (p.His502Leu)
|
rs976110882
|
|