NM_001329943.3(KIAA0586):c.392del (p.Arg131fs)
|
rs534542684
|
0.00347
|
NM_025114.4(CEP290):c.2991+1655A>G
|
rs281865192
|
0.00029
|
NM_153240.5(NPHP3):c.2694-2_2694-1del
|
rs751527253
|
0.00026
|
NM_012472.6(DNAAF11):c.436G>C (p.Asp146His)
|
rs200321595
|
0.00011
|
NM_025114.4(CEP290):c.4723A>T (p.Lys1575Ter)
|
rs137852834
|
0.00009
|
NM_025114.4(CEP290):c.4882C>T (p.Gln1628Ter)
|
rs376493409
|
0.00007
|
NM_152384.3(BBS5):c.619-1G>C
|
rs753234582
|
0.00004
|
NM_025114.4(CEP290):c.4522C>T (p.Arg1508Ter)
|
rs749439750
|
0.00002
|
NM_153240.5(NPHP3):c.1381G>T (p.Glu461Ter)
|
rs119456961
|
0.00002
|
NM_001384732.1(CPLANE1):c.7871T>A (p.Leu2624Ter)
|
rs749523755
|
0.00001
|
NM_012210.4(TRIM32):c.1459G>A (p.Asp487Asn)
|
rs111033570
|
0.00001
|
NM_025114.4(CEP290):c.1936C>T (p.Gln646Ter)
|
rs780225183
|
0.00001
|
NM_025114.4(CEP290):c.6012-2A>G
|
rs555755221
|
0.00001
|
NM_152618.3(BBS12):c.1063C>T (p.Arg355Ter)
|
rs121918327
|
0.00001
|
NM_001080463.1(DYNC2H1):c.7293-2_7298delAGTTACCC
|
rs1862217660
|
|
NM_001329943.3(KIAA0586):c.1629G>A (p.Trp543Ter)
|
rs2040056901
|
|
NM_001369.3(DNAH5):c.5563dup (p.Ile1855fs)
|
rs752925056
|
|
NM_001378454.1(ALMS1):c.2897del (p.Gln966fs)
|
rs1671880064
|
|
NM_001378615.1(CC2D2A):c.1149+1G>A
|
rs1553827236
|
|
NM_001378615.1(CC2D2A):c.4179+1del
|
rs386833760
|
|
NM_001382391.1(CSPP1):c.2259_2260del (p.Glu755fs)
|
rs587777139
|
|
NM_001384732.1(CPLANE1):c.1819del (p.Tyr607fs)
|
rs777686211
|
|
NM_014714.4(IFT140):c.558G>A (p.Trp186Ter)
|
rs2035218747
|
|
NM_015102.5(NPHP4):c.12G>A (p.Trp4Ter)
|
rs780905861
|
|
NM_017777.4(MKS1):c.1115_1117del (p.Ser372del)
|
rs754279998
|
|
NM_024649.5(BBS1):c.951+1G>A
|
rs746875134
|
|
NM_024685.4(BBS10):c.271dup (p.Cys91fs)
|
rs549625604
|
|
NM_025114.4(CEP290):c.1514_1515del (p.Glu505fs)
|
rs886043303
|
|
NM_025114.4(CEP290):c.2941C>T (p.Gln981Ter)
|
rs1057518822
|
|
NM_025114.4(CEP290):c.3104-2A>G
|
rs773386777
|
|
NM_025114.4(CEP290):c.3814C>T (p.Arg1272Ter)
|
rs62640581
|
|
NM_025114.4(CEP290):c.4452_4455del (p.Lys1484fs)
|
rs780624853
|
|
NM_025114.4(CEP290):c.5493del (p.Ala1832fs)
|
rs386834158
|
|
NM_025114.4(CEP290):c.7027del (p.Val2343fs)
|
rs2033827549
|
|