NM_014956.5(CEP164):c.4228C>T (p.Gln1410Ter)
|
rs147398904
|
0.00111
|
NM_014956.5(CEP164):c.3904C>T (p.Pro1302Ser)
|
rs201430651
|
0.00025
|
NM_025132.4(WDR19):c.3533G>A (p.Arg1178Gln)
|
rs79436363
|
0.00015
|
NM_001023570.4(IQCB1):c.1381C>T (p.Arg461Ter)
|
rs121918244
|
0.00011
|
NM_001023570.4(IQCB1):c.1090C>T (p.Arg364Ter)
|
rs727503968
|
0.00006
|
NM_015650.4(TRAF3IP1):c.1064G>A (p.Gly355Glu)
|
rs560016209
|
0.00006
|
NM_025114.4(CEP290):c.4966G>T (p.Glu1656Ter)
|
rs62638179
|
0.00006
|
NM_025132.4(WDR19):c.781dup (p.Thr261fs)
|
rs748656635
|
0.00004
|
NM_025114.4(CEP290):c.3593C>T (p.Ser1198Leu)
|
rs372640024
|
0.00003
|
NM_015650.4(TRAF3IP1):c.1408C>T (p.Arg470Trp)
|
rs569480234
|
0.00002
|
NM_001023570.4(IQCB1):c.1036G>T (p.Glu346Ter)
|
rs387907009
|
0.00001
|
NM_001023570.4(IQCB1):c.1333C>T (p.Arg445Ter)
|
rs867772426
|
0.00001
|
NM_001023570.4(IQCB1):c.1465C>T (p.Arg489Ter)
|
rs373909351
|
0.00001
|
NM_001023570.4(IQCB1):c.1504C>T (p.Arg502Ter)
|
rs1280238814
|
0.00001
|
NM_001023570.4(IQCB1):c.1558C>T (p.Gln520Ter)
|
rs779858591
|
0.00001
|
NM_001023570.4(IQCB1):c.488-1G>A
|
rs779696701
|
0.00001
|
NM_001023570.4(IQCB1):c.588-2A>G
|
rs1250919247
|
0.00001
|
NM_001023570.4(IQCB1):c.994C>T (p.Arg332Ter)
|
rs1189889920
|
0.00001
|
NM_001023570.4(IQCB1):c.100+1G>A
|
|
|
NM_001023570.4(IQCB1):c.1024C>T (p.Gln342Ter)
|
|
|
NM_001023570.4(IQCB1):c.1045_1048delinsGGGGG (p.Lys349fs)
|
|
|
NM_001023570.4(IQCB1):c.1051C>T (p.Gln351Ter)
|
|
|
NM_001023570.4(IQCB1):c.1056del (p.Leu352fs)
|
|
|
NM_001023570.4(IQCB1):c.150_153del (p.Gln51fs)
|
|
|
NM_001023570.4(IQCB1):c.1518_1519del (p.His506fs)
|
rs398123538
|
|
NM_001023570.4(IQCB1):c.151C>T (p.Gln51Ter)
|
|
|
NM_001023570.4(IQCB1):c.1522_1523dup (p.Ala509fs)
|
rs587783011
|
|
NM_001023570.4(IQCB1):c.1532_1536dup (p.Gln513Ter)
|
|
|
NM_001023570.4(IQCB1):c.1557dup (p.Gln520fs)
|
|
|
NM_001023570.4(IQCB1):c.1602del (p.Glu534fs)
|
|
|
NM_001023570.4(IQCB1):c.214C>T (p.Arg72Ter)
|
rs201405662
|
|
NM_001023570.4(IQCB1):c.263+1G>T
|
|
|
NM_001023570.4(IQCB1):c.424_425del (p.Phe142fs)
|
rs750962965
|
|
NM_001023570.4(IQCB1):c.481C>T (p.Gln161Ter)
|
|
|
NM_001023570.4(IQCB1):c.488-2A>G
|
|
|
NM_001023570.4(IQCB1):c.577C>T (p.Gln193Ter)
|
|
|
NM_001023570.4(IQCB1):c.628dup (p.Ile210fs)
|
|
|
NM_001023570.4(IQCB1):c.758del (p.Cys253fs)
|
rs770441610
|
|
NM_001023570.4(IQCB1):c.781del (p.Leu260_Leu261insTer)
|
|
|
NM_001023570.4(IQCB1):c.862G>T (p.Glu288Ter)
|
rs1949225959
|
|
NM_001023570.4(IQCB1):c.897_900dup (p.Ile301fs)
|
rs745340459
|
|
NM_001023570.4(IQCB1):c.919_920insC (p.Gly307fs)
|
rs772827691
|
|
NM_001023570.4(IQCB1):c.983dup (p.Arg329fs)
|
rs1949141890
|
|
NM_014956.5(CEP164):c.644_646del (p.Gly215del)
|
rs759774330
|
|
NM_015102.5(NPHP4):c.3490_3491delinsA (p.Leu1164fs)
|
rs1641316046
|
|
NM_015650.4(TRAF3IP1):c.152G>A (p.Gly51Asp)
|
rs1574887966
|
|
NM_025114.4(CEP290):c.2632del (p.Ile878fs)
|
rs1404507934
|
|