NM_000782.5(CYP24A1):c.1187G>A (p.Arg396Gln)
|
rs143934667
|
0.00006
|
NM_003052.5(SLC34A1):c.604G>A (p.Val202Met)
|
rs146919762
|
0.00006
|
NM_000329.3(RPE65):c.617T>C (p.Ile206Thr)
|
rs768445391
|
0.00004
|
NM_000092.5(COL4A4):c.3089G>A (p.Gly1030Asp)
|
rs772699709
|
0.00003
|
NM_000092.5(COL4A4):c.1424G>C (p.Gly475Ala)
|
rs1559594442
|
0.00001
|
NM_000260.4(MYO7A):c.849+5G>A
|
rs1060499716
|
0.00001
|
NM_015102.5(NPHP4):c.3766C>T (p.Gln1256Ter)
|
rs775612958
|
0.00001
|
NM_138694.4(PKHD1):c.2980C>T (p.Arg994Trp)
|
rs757854282
|
0.00001
|
NM_206933.4(USH2A):c.9258+1G>A
|
rs748810737
|
0.00001
|
NM_000091.4:c.1900G>A;c.1927G>A
|
|
|
NM_000092.5(COL4A4):c.2402G>T (p.Gly801Val)
|
rs200814061
|
|
NM_000092.5(COL4A4):c.2662G>A (p.Gly888Arg)
|
rs1363277825
|
|
NM_000092.5(COL4A4):c.3574_3577+8del
|
rs1553627655
|
|
NM_000092.5(COL4A4):c.446G>T (p.Gly149Val)
|
rs374815903
|
|
NM_000092.5(COL4A4):c.4948T>C (p.Phe1650Leu)
|
rs1553611876
|
|
NM_000180.4(GUCY2D):c.1040_1041del (p.Phe347fs)
|
rs763890649
|
|
NM_000260.4(MYO7A):c.1349A>T (p.Glu450Val)
|
rs1555069238
|
|
NM_000260.4(MYO7A):c.5001_5002del (p.Tyr1668fs)
|
rs1591467918
|
|
NM_001042472.3(ABHD12):c.971C>T (p.Pro324Leu)
|
rs886039872
|
|
NM_001146079.2(CLDN14):c.191G>A (p.Cys64Tyr)
|
rs1568839335
|
|
NM_001378454.1(ALMS1):c.1437_1450del (p.Asp479fs)
|
rs1572931120
|
|
NM_001378609.3(OTOGL):c.4536_4537del (p.Cys1512fs)
|
rs763898293
|
|
NM_003052.5(SLC34A1):c.713A>C (p.Glu238Ala)
|
rs1554095500
|
|
NM_015102.5(NPHP4):c.1124_1125insCC (p.Ser376fs)
|
rs1570504754
|
|
NM_024649.5(BBS1):c.777del (p.Glu260fs)
|
rs1555047786
|
|
NM_032119.4(ADGRV1):c.4391T>G (p.Leu1464Arg)
|
rs1580624630
|
|
NM_138694.4(PKHD1):c.1472A>C (p.His491Pro)
|
rs886039888
|
|
NM_138694.4(PKHD1):c.662A>G (p.Tyr221Cys)
|
rs1554223332
|
|
NM_138694.4(PKHD1):c.8285A>T (p.Asp2762Val)
|
rs1554263076
|
|
NM_138694.4(PKHD1):c.8864G>T (p.Arg2955Leu)
|
rs1582469538
|
|
NM_138694.4(PKHD1):c.8951G>C (p.Gly2984Ala)
|
rs1057516201
|
|
NM_153676.4(USH1C):c.445G>A (p.Glu149Lys)
|
rs1565058763
|
|
NM_153717.3(EVC):c.384G>T (p.Arg128=)
|
rs1553865346
|
|
NM_174878.3(CLRN1):c.188A>C (p.Tyr63Ser)
|
rs1715589813
|
|
NM_198428.3(BBS9):c.785T>C (p.Val262Ala)
|
rs886039875
|
|