NM_001173990.3(TMEM216):c.432-11_432-10insA
|
rs11382548
|
0.83974
|
NM_019892.6(INPP5E):c.1248T>C (p.Thr416=)
|
rs10781542
|
0.42574
|
NM_019892.6(INPP5E):c.1284T>C (p.Gly428=)
|
rs10870194
|
0.42571
|
NM_019892.6(INPP5E):c.*328T>C
|
rs35763810
|
0.41134
|
NM_019892.6(INPP5E):c.*703A>G
|
rs1128874
|
0.40097
|
NM_019892.6(INPP5E):c.*816A>G
|
rs8413
|
0.40078
|
NM_019892.6(INPP5E):c.1794G>T (p.Gly598=)
|
rs33982662
|
0.22912
|
NM_019892.6(INPP5E):c.972A>G (p.Pro324=)
|
rs10870199
|
0.10324
|
NM_001378615.1(CC2D2A):c.156C>T (p.Ser52=)
|
rs1861050
|
0.07770
|
NM_019892.6(INPP5E):c.1359C>T (p.Pro453=)
|
rs35774078
|
0.05472
|
NM_025114.4(CEP290):c.2512A>G (p.Lys838Glu)
|
rs11104738
|
0.05247
|
NM_019892.6(INPP5E):c.33C>G (p.Ser11=)
|
rs79161998
|
0.02475
|
NM_001134831.2(AHI1):c.2488C>T (p.Arg830Trp)
|
rs13312995
|
0.02035
|
NM_019892.6(INPP5E):c.1388-13C>T
|
rs78828148
|
0.01500
|
NM_019892.6(INPP5E):c.981C>T (p.Ala327=)
|
rs35498378
|
0.01340
|
NM_019892.6(INPP5E):c.636C>A (p.Val212=)
|
rs34071122
|
0.01252
|
NM_019892.6(INPP5E):c.531C>A (p.Ala177=)
|
rs58206296
|
0.01135
|
NM_024753.5(TTC21B):c.2322+3A>G
|
rs79037278
|
0.00575
|
NM_024753.5(TTC21B):c.3004C>G (p.Leu1002Val)
|
rs146496725
|
0.00537
|
NM_019892.6(INPP5E):c.791G>A (p.Arg264His)
|
rs202197173
|
0.00415
|
NM_001128178.3(NPHP1):c.14G>T (p.Arg5Leu)
|
rs190983114
|
0.00366
|
NM_019892.6(INPP5E):c.1159+8C>T
|
rs73566945
|
0.00276
|
NM_153704.6(TMEM67):c.25G>A (p.Val9Met)
|
rs199961375
|
0.00225
|
NM_153704.6(TMEM67):c.1078A>G (p.Thr360Ala)
|
rs140191346
|
0.00188
|
NM_019892.6(INPP5E):c.1550-14C>T
|
rs181576122
|
0.00117
|
NM_001378615.1(CC2D2A):c.2161C>T (p.Pro721Ser)
|
rs199768782
|
0.00061
|
NM_025114.4(CEP290):c.6787A>G (p.Ser2263Gly)
|
rs77778467
|
0.00022
|
NM_001044385.3(TMEM237):c.1024A>G (p.Asn342Asp)
|
rs372686071
|
0.00004
|
NM_001173990.3(TMEM216):c.432-1G>C
|
rs10897158
|
|
NM_001174150.2(ARL13B):c.486+22del
|
rs368491848
|
|
NM_001174150.2(ARL13B):c.486+22dup
|
rs368491848
|
|
NM_019892.6(INPP5E):c.1521C>T (p.His507=)
|
rs10870188
|
|
NM_019892.6(INPP5E):c.1791G>A (p.Pro597=)
|
rs10870182
|
|
NM_019892.6(INPP5E):c.812+7_812+10del
|
rs5901103
|
|