Chr Mutation (hg38) CAid Gene Transcript Linkouts
4g.664871G>CCA1432854111PDE6Bc.2130-10G>C (n.2130-10G>C)
c.1293-10G>C (n.1293-10G>C)
n.500-10G>C
c.210-10G>C (n.210-10G>C)
c.2349-10G>C (n.2349-10G>C)
c.1335-10G>C (n.1335-10G>C)
c.1059-10G>C (n.1059-10G>C)
c.975-10G>C (n.975-10G>C)
 dbSNP
4g.664871G=CA1432854110PDE6Bc.2130-10G= (n.2130-10G=)
c.1293-10G= (n.1293-10G=)
n.500-10G=
c.210-10G= (n.210-10G=)
c.2349-10G= (n.2349-10G=)
c.1335-10G= (n.1335-10G=)
c.1059-10G= (n.1059-10G=)
c.975-10G= (n.975-10G=)
4g.664871G>TCA2669420248PDE6Bc.2130-10G>T (n.2130-10G>T)
c.1293-10G>T (n.1293-10G>T)
n.500-10G>T
c.210-10G>T (n.210-10G>T)
c.2349-10G>T (n.2349-10G>T)
c.1335-10G>T (n.1335-10G>T)
c.1059-10G>T (n.1059-10G>T)
c.975-10G>T (n.975-10G>T)
 gnomAD v4
4g.664875C=CA1432854117PDE6Bc.2130-6C= (n.2130-6C=)
c.1293-6C= (n.1293-6C=)
n.500-6C=
c.210-6C= (n.210-6C=)
c.2349-6C= (n.2349-6C=)
c.1335-6C= (n.1335-6C=)
c.1059-6C= (n.1059-6C=)
c.975-6C= (n.975-6C=)
4g.664875C>TCA2794905PDE6Bc.2130-6C>T (n.2130-6C>T)
c.1293-6C>T (n.1293-6C>T)
n.500-6C>T
c.210-6C>T (n.210-6C>T)
c.2349-6C>T (n.2349-6C>T)
c.1335-6C>T (n.1335-6C>T)
c.1059-6C>T (n.1059-6C>T)
c.975-6C>T (n.975-6C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.664877G>ACA2669420249PDE6Bc.2130-4G>A (n.2130-4G>A)
c.1293-4G>A (n.1293-4G>A)
n.500-4G>A
c.210-4G>A (n.210-4G>A)
c.2349-4G>A (n.2349-4G>A)
c.1335-4G>A (n.1335-4G>A)
c.1059-4G>A (n.1059-4G>A)
c.975-4G>A (n.975-4G>A)
 gnomAD v4
4g.664878C>ACA1432854123PDE6Bc.2130-3C>A (n.2130-3C>A)
c.1293-3C>A (n.1293-3C>A)
n.500-3C>A
c.210-3C>A (n.210-3C>A)
c.2349-3C>A (n.2349-3C>A)
c.1335-3C>A (n.1335-3C>A)
c.1059-3C>A (n.1059-3C>A)
c.975-3C>A (n.975-3C>A)
 dbSNP
4g.664878C=CA1432854121PDE6Bc.2130-3C= (n.2130-3C=)
c.1293-3C= (n.1293-3C=)
n.500-3C=
c.210-3C= (n.210-3C=)
c.2349-3C= (n.2349-3C=)
c.1335-3C= (n.1335-3C=)
c.1059-3C= (n.1059-3C=)
c.975-3C= (n.975-3C=)
4g.664878C>TCA2669420250PDE6Bc.2130-3C>T (n.2130-3C>T)
c.1293-3C>T (n.1293-3C>T)
n.500-3C>T
c.210-3C>T (n.210-3C>T)
c.2349-3C>T (n.2349-3C>T)
c.1335-3C>T (n.1335-3C>T)
c.1059-3C>T (n.1059-3C>T)
c.975-3C>T (n.975-3C>T)
 gnomAD v4
4g.664879A=CA1432854126PDE6Bc.2130-2A= (n.2130-2A=)
c.1293-2A= (n.1293-2A=)
n.500-2A=
c.210-2A= (n.210-2A=)
c.2349-2A= (n.2349-2A=)
c.1335-2A= (n.1335-2A=)
c.1059-2A= (n.1059-2A=)
c.975-2A= (n.975-2A=)
4g.664879A>CCA355919579PDE6Bc.2130-2A>C (n.2130-2A>C)
c.1293-2A>C (n.1293-2A>C)
n.500-2A>C
c.210-2A>C (n.210-2A>C)
c.2349-2A>C (n.2349-2A>C)
c.1335-2A>C (n.1335-2A>C)
c.1059-2A>C (n.1059-2A>C)
c.975-2A>C (n.975-2A>C)
 dbSNP
4g.664879A>GCA355919578PDE6Bc.2130-2A>G (n.2130-2A>G)
c.1293-2A>G (n.1293-2A>G)
n.500-2A>G
c.210-2A>G (n.210-2A>G)
c.2349-2A>G (n.2349-2A>G)
c.1335-2A>G (n.1335-2A>G)
c.1059-2A>G (n.1059-2A>G)
c.975-2A>G (n.975-2A>G)
4g.664879A>TCA355919577PDE6Bc.2130-2A>T (n.2130-2A>T)
c.1293-2A>T (n.1293-2A>T)
n.500-2A>T
c.210-2A>T (n.210-2A>T)
c.2349-2A>T (n.2349-2A>T)
c.1335-2A>T (n.1335-2A>T)
c.1059-2A>T (n.1059-2A>T)
c.975-2A>T (n.975-2A>T)
4g.664880G>ACA2794906PDE6Bc.2130-1G>A (n.2130-1G>A)
c.1293-1G>A (n.1293-1G>A)
n.500-1G>A
c.210-1G>A (n.210-1G>A)
c.2349-1G>A (n.2349-1G>A)
c.1335-1G>A (n.1335-1G>A)
c.1059-1G>A (n.1059-1G>A)
c.975-1G>A (n.975-1G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.664880G>CCA355919580PDE6Bc.2130-1G>C (n.2130-1G>C)
c.1293-1G>C (n.1293-1G>C)
n.500-1G>C
c.210-1G>C (n.210-1G>C)
c.2349-1G>C (n.2349-1G>C)
c.1335-1G>C (n.1335-1G>C)
c.1059-1G>C (n.1059-1G>C)
c.975-1G>C (n.975-1G>C)
4g.664880G=CA1432854132PDE6Bc.2130-1G= (n.2130-1G=)
c.1293-1G= (n.1293-1G=)
n.500-1G=
c.210-1G= (n.210-1G=)
c.2349-1G= (n.2349-1G=)
c.1335-1G= (n.1335-1G=)
c.1059-1G= (n.1059-1G=)
c.975-1G= (n.975-1G=)
4g.664880G>TCA355919581PDE6Bc.2130-1G>T (n.2130-1G>T)
c.1293-1G>T (n.1293-1G>T)
n.500-1G>T
c.210-1G>T (n.210-1G>T)
c.2349-1G>T (n.2349-1G>T)
c.1335-1G>T (n.1335-1G>T)
c.1059-1G>T (n.1059-1G>T)
c.975-1G>T (n.975-1G>T)
4g.664882delCA2578009817PDE6Bc.2131del
c.1294del
n.501del
c.211del
c.2350del
c.1336del
c.1060del
c.976del
4g.664881G>ACA355919582PDE6Bc.2130G>A (p.Met710Ile)
c.1293G>A (p.Met431Ile)
n.500G>A
c.210G>A (p.Met70Ile)
c.2349G>A (p.Met783Ile)
c.1335G>A (p.Met445Ile)
c.1059G>A (p.Met353Ile)
c.975G>A (p.Met325Ile)
 gnomAD v4
4g.664881G>CCA355919583PDE6Bc.2130G>C (p.Met710Ile)
c.1293G>C (p.Met431Ile)
n.500G>C
c.210G>C (p.Met70Ile)
c.2349G>C (p.Met783Ile)
c.1335G>C (p.Met445Ile)
c.1059G>C (p.Met353Ile)
c.975G>C (p.Met325Ile)
 gnomAD v3 gnomAD v4
4g.664881G>TCA355919584PDE6Bc.2130G>T (p.Met710Ile)
c.1293G>T (p.Met431Ile)
n.500G>T
c.210G>T (p.Met70Ile)
c.2349G>T (p.Met783Ile)
c.1335G>T (p.Met445Ile)
c.1059G>T (p.Met353Ile)
c.975G>T (p.Met325Ile)
4g.664882G>ACA355919585PDE6Bc.2131G>A (p.Ala711Thr)
c.1294G>A (p.Ala432Thr)
n.501G>A
c.211G>A (p.Ala71Thr)
c.2350G>A (p.Ala784Thr)
c.1336G>A (p.Ala446Thr)
c.1060G>A (p.Ala354Thr)
c.976G>A (p.Ala326Thr)
4g.664882G>CCA355919587PDE6Bc.2131G>C (p.Ala711Pro)
c.1294G>C (p.Ala432Pro)
n.501G>C
c.211G>C (p.Ala71Pro)
c.2350G>C (p.Ala784Pro)
c.1336G>C (p.Ala446Pro)
c.1060G>C (p.Ala354Pro)
c.976G>C (p.Ala326Pro)
4g.664882G=CA1432854140PDE6Bc.2131G= (p.Ala711=)
c.1294G= (p.Ala432=)
n.501G=
c.211G= (p.Ala71=)
c.2350G= (p.Ala784=)
c.1336G= (p.Ala446=)
c.1060G= (p.Ala354=)
c.976G= (p.Ala326=)
4g.664882G>TCA355919586PDE6Bc.2131G>T (p.Ala711Ser)
c.1294G>T (p.Ala432Ser)
n.501G>T
c.211G>T (p.Ala71Ser)
c.2350G>T (p.Ala784Ser)
c.1336G>T (p.Ala446Ser)
c.1060G>T (p.Ala354Ser)
c.976G>T (p.Ala326Ser)
 dbSNP gnomAD v2 gnomAD v4
4g.664883C>ACA355919588PDE6Bc.2132C>A (p.Ala711Asp)
c.1295C>A (p.Ala432Asp)
n.502C>A
c.212C>A (p.Ala71Asp)
c.2351C>A (p.Ala784Asp)
c.1337C>A (p.Ala446Asp)
c.1061C>A (p.Ala354Asp)
c.977C>A (p.Ala326Asp)
4g.664883C=CA1432854146PDE6Bc.2132C= (p.Ala711=)
c.1295C= (p.Ala432=)
n.502C=
c.212C= (p.Ala71=)
c.2351C= (p.Ala784=)
c.1337C= (p.Ala446=)
c.1061C= (p.Ala354=)
c.977C= (p.Ala326=)
4g.664883C>GCA355919589PDE6Bc.2132C>G (p.Ala711Gly)
c.1295C>G (p.Ala432Gly)
n.502C>G
c.212C>G (p.Ala71Gly)
c.2351C>G (p.Ala784Gly)
c.1337C>G (p.Ala446Gly)
c.1061C>G (p.Ala354Gly)
c.977C>G (p.Ala326Gly)
4g.664883C>TCA355919590PDE6Bc.2132C>T (p.Ala711Val)
c.1295C>T (p.Ala432Val)
n.502C>T
c.212C>T (p.Ala71Val)
c.2351C>T (p.Ala784Val)
c.1337C>T (p.Ala446Val)
c.1061C>T (p.Ala354Val)
c.977C>T (p.Ala326Val)
 dbSNP COSMIC
4g.664884delCA2669420252PDE6Bc.2133del (p.Met712Ter)
c.1296del (p.Met433Ter)
n.503del
c.213del (p.Met72Ter)
c.2352del (p.Met785Ter)
c.1338del (p.Met447Ter)
c.1062del (p.Met355Ter)
c.978del (p.Met327Ter)
 gnomAD v4
4g.664884C>ACA437901000PDE6Bc.2133C>A (p.Ala711=)
c.1296C>A (p.Ala432=)
n.503C>A
c.213C>A (p.Ala71=)
c.2352C>A (p.Ala784=)
c.1338C>A (p.Ala446=)
c.1062C>A (p.Ala354=)
c.978C>A (p.Ala326=)
4g.664884C=CA1432854152PDE6Bc.2133C= (p.Ala711=)
c.1296C= (p.Ala432=)
n.503C=
c.213C= (p.Ala71=)
c.2352C= (p.Ala784=)
c.1338C= (p.Ala446=)
c.1062C= (p.Ala354=)
c.978C= (p.Ala326=)
4g.664884C>GCA91092562PDE6Bc.2133C>G (p.Ala711=)
c.1296C>G (p.Ala432=)
n.503C>G
c.213C>G (p.Ala71=)
c.2352C>G (p.Ala784=)
c.1338C>G (p.Ala446=)
c.1062C>G (p.Ala354=)
c.978C>G (p.Ala326=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.664884C>TCA437901001PDE6Bc.2133C>T (p.Ala711=)
c.1296C>T (p.Ala432=)
n.503C>T
c.213C>T (p.Ala71=)
c.2352C>T (p.Ala784=)
c.1338C>T (p.Ala446=)
c.1062C>T (p.Ala354=)
c.978C>T (p.Ala326=)
 gnomAD v4
4g.664885A=CA1432854157PDE6Bc.2134A= (p.Met712=)
c.1297A= (p.Met433=)
n.504A=
c.214A= (p.Met72=)
c.2353A= (p.Met785=)
c.1339A= (p.Met447=)
c.1063A= (p.Met355=)
c.979A= (p.Met327=)
4g.664885A>CCA355919591PDE6Bc.2134A>C (p.Met712Leu)
c.1297A>C (p.Met433Leu)
n.504A>C
c.214A>C (p.Met72Leu)
c.2353A>C (p.Met785Leu)
c.1339A>C (p.Met447Leu)
c.1063A>C (p.Met355Leu)
c.979A>C (p.Met327Leu)
4g.664885A>GCA355919592PDE6Bc.2134A>G (p.Met712Val)
c.1297A>G (p.Met433Val)
n.504A>G
c.214A>G (p.Met72Val)
c.2353A>G (p.Met785Val)
c.1339A>G (p.Met447Val)
c.1063A>G (p.Met355Val)
c.979A>G (p.Met327Val)
 dbSNP gnomAD v2 gnomAD v4
4g.664885A>TCA355919593PDE6Bc.2134A>T (p.Met712Leu)
c.1297A>T (p.Met433Leu)
n.504A>T
c.214A>T (p.Met72Leu)
c.2353A>T (p.Met785Leu)
c.1339A>T (p.Met447Leu)
c.1063A>T (p.Met355Leu)
c.979A>T (p.Met327Leu)
4g.664886T>ACA355919594PDE6Bc.2135T>A (p.Met712Lys)
c.1298T>A (p.Met433Lys)
n.505T>A
c.215T>A (p.Met72Lys)
c.2354T>A (p.Met785Lys)
c.1340T>A (p.Met447Lys)
c.1064T>A (p.Met355Lys)
c.980T>A (p.Met327Lys)
4g.664886T>CCA355919595PDE6Bc.2135T>C (p.Met712Thr)
c.1298T>C (p.Met433Thr)
n.505T>C
c.215T>C (p.Met72Thr)
c.2354T>C (p.Met785Thr)
c.1340T>C (p.Met447Thr)
c.1064T>C (p.Met355Thr)
c.980T>C (p.Met327Thr)
4g.664886T>GCA355919596PDE6Bc.2135T>G (p.Met712Arg)
c.1298T>G (p.Met433Arg)
n.505T>G
c.215T>G (p.Met72Arg)
c.2354T>G (p.Met785Arg)
c.1340T>G (p.Met447Arg)
c.1064T>G (p.Met355Arg)
c.980T>G (p.Met327Arg)
 dbSNP gnomAD v3 gnomAD v4
4g.664886T=CA1432854161PDE6Bc.2135T= (p.Met712=)
c.1298T= (p.Met433=)
n.505T=
c.215T= (p.Met72=)
c.2354T= (p.Met785=)
c.1340T= (p.Met447=)
c.1064T= (p.Met355=)
c.980T= (p.Met327=)
4g.664887G>ACA355919597PDE6Bc.2136G>A (p.Met712Ile)
c.1299G>A (p.Met433Ile)
n.506G>A
c.216G>A (p.Met72Ile)
c.2355G>A (p.Met785Ile)
c.1341G>A (p.Met447Ile)
c.1065G>A (p.Met355Ile)
c.981G>A (p.Met327Ile)
 dbSNP
4g.664887G>CCA355919598PDE6Bc.2136G>C (p.Met712Ile)
c.1299G>C (p.Met433Ile)
n.506G>C
c.216G>C (p.Met72Ile)
c.2355G>C (p.Met785Ile)
c.1341G>C (p.Met447Ile)
c.1065G>C (p.Met355Ile)
c.981G>C (p.Met327Ile)
4g.664887G=CA1432854171PDE6Bc.2136G= (p.Met712=)
c.1299G= (p.Met433=)
n.506G=
c.216G= (p.Met72=)
c.2355G= (p.Met785=)
c.1341G= (p.Met447=)
c.1065G= (p.Met355=)
c.981G= (p.Met327=)
4g.664887G>TCA355919599PDE6Bc.2136G>T (p.Met712Ile)
c.1299G>T (p.Met433Ile)
n.506G>T
c.216G>T (p.Met72Ile)
c.2355G>T (p.Met785Ile)
c.1341G>T (p.Met447Ile)
c.1065G>T (p.Met355Ile)
c.981G>T (p.Met327Ile)
4g.664888A>CCA355919600PDE6Bc.2137A>C (p.Met713Leu)
c.1300A>C (p.Met434Leu)
n.507A>C
c.217A>C (p.Met73Leu)
c.2356A>C (p.Met786Leu)
c.1342A>C (p.Met448Leu)
c.1066A>C (p.Met356Leu)
c.982A>C (p.Met328Leu)
4g.664888A>GCA355919602PDE6Bc.2137A>G (p.Met713Val)
c.1300A>G (p.Met434Val)
n.507A>G
c.217A>G (p.Met73Val)
c.2356A>G (p.Met786Val)
c.1342A>G (p.Met448Val)
c.1066A>G (p.Met356Val)
c.982A>G (p.Met328Val)
4g.664888A>TCA355919601PDE6Bc.2137A>T (p.Met713Leu)
c.1300A>T (p.Met434Leu)
n.507A>T
c.217A>T (p.Met73Leu)
c.2356A>T (p.Met786Leu)
c.1342A>T (p.Met448Leu)
c.1066A>T (p.Met356Leu)
c.982A>T (p.Met328Leu)
4g.664889T>ACA355919603PDE6Bc.2138T>A (p.Met713Lys)
c.1301T>A (p.Met434Lys)
n.508T>A
c.218T>A (p.Met73Lys)
c.2357T>A (p.Met786Lys)
c.1343T>A (p.Met448Lys)
c.1067T>A (p.Met356Lys)
c.983T>A (p.Met328Lys)
 ClinVar dbSNP
4g.664889T>CCA2794907PDE6Bc.2138T>C (p.Met713Thr)
c.1301T>C (p.Met434Thr)
n.508T>C
c.218T>C (p.Met73Thr)
c.2357T>C (p.Met786Thr)
c.1343T>C (p.Met448Thr)
c.1067T>C (p.Met356Thr)
c.983T>C (p.Met328Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.664889T>GCA355919604PDE6Bc.2138T>G (p.Met713Arg)
c.1301T>G (p.Met434Arg)
n.508T>G
c.218T>G (p.Met73Arg)
c.2357T>G (p.Met786Arg)
c.1343T>G (p.Met448Arg)
c.1067T>G (p.Met356Arg)
c.983T>G (p.Met328Arg)
4g.664889T=CA1432854174PDE6Bc.2138T= (p.Met713=)
c.1301T= (p.Met434=)
n.508T=
c.218T= (p.Met73=)
c.2357T= (p.Met786=)
c.1343T= (p.Met448=)
c.1067T= (p.Met356=)
c.983T= (p.Met328=)
4g.664890G>ACA355919605PDE6Bc.2139G>A (p.Met713Ile)
c.1302G>A (p.Met434Ile)
n.509G>A
c.219G>A (p.Met73Ile)
c.2358G>A (p.Met786Ile)
c.1344G>A (p.Met448Ile)
c.1068G>A (p.Met356Ile)
c.984G>A (p.Met328Ile)
 ClinVar dbSNP gnomAD v2 gnomAD v4
4g.664890G>CCA355919606PDE6Bc.2139G>C (p.Met713Ile)
c.1302G>C (p.Met434Ile)
n.509G>C
c.219G>C (p.Met73Ile)
c.2358G>C (p.Met786Ile)
c.1344G>C (p.Met448Ile)
c.1068G>C (p.Met356Ile)
c.984G>C (p.Met328Ile)
 COSMIC
4g.664890G=CA1432854182PDE6Bc.2139G= (p.Met713=)
c.1302G= (p.Met434=)
n.509G=
c.219G= (p.Met73=)
c.2358G= (p.Met786=)
c.1344G= (p.Met448=)
c.1068G= (p.Met356=)
c.984G= (p.Met328=)
4g.664890G>TCA355919607PDE6Bc.2139G>T (p.Met713Ile)
c.1302G>T (p.Met434Ile)
n.509G>T
c.219G>T (p.Met73Ile)
c.2358G>T (p.Met786Ile)
c.1344G>T (p.Met448Ile)
c.1068G>T (p.Met356Ile)
c.984G>T (p.Met328Ile)
4g.664891A=CA1432854191PDE6Bc.2140A= (p.Met714=)
c.1303A= (p.Met435=)
n.510A=
c.220A= (p.Met74=)
c.2359A= (p.Met787=)
c.1345A= (p.Met449=)
c.1069A= (p.Met357=)
c.985A= (p.Met329=)
4g.664891A>CCA355919608PDE6Bc.2140A>C (p.Met714Leu)
c.1303A>C (p.Met435Leu)
n.510A>C
c.220A>C (p.Met74Leu)
c.2359A>C (p.Met787Leu)
c.1345A>C (p.Met449Leu)
c.1069A>C (p.Met357Leu)
c.985A>C (p.Met329Leu)
4g.664891A>GCA355919609PDE6Bc.2140A>G (p.Met714Val)
c.1303A>G (p.Met435Val)
n.510A>G
c.220A>G (p.Met74Val)
c.2359A>G (p.Met787Val)
c.1345A>G (p.Met449Val)
c.1069A>G (p.Met357Val)
c.985A>G (p.Met329Val)
4g.664891A>TCA2794908PDE6Bc.2140A>T (p.Met714Leu)
c.1303A>T (p.Met435Leu)
n.510A>T
c.220A>T (p.Met74Leu)
c.2359A>T (p.Met787Leu)
c.1345A>T (p.Met449Leu)
c.1069A>T (p.Met357Leu)
c.985A>T (p.Met329Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.664892T>ACA355919610PDE6Bc.2141T>A (p.Met714Lys)
c.1304T>A (p.Met435Lys)
n.511T>A
c.221T>A (p.Met74Lys)
c.2360T>A (p.Met787Lys)
c.1346T>A (p.Met449Lys)
c.1070T>A (p.Met357Lys)
c.986T>A (p.Met329Lys)
4g.664892T>CCA355919611PDE6Bc.2141T>C (p.Met714Thr)
c.1304T>C (p.Met435Thr)
n.511T>C
c.221T>C (p.Met74Thr)
c.2360T>C (p.Met787Thr)
c.1346T>C (p.Met449Thr)
c.1070T>C (p.Met357Thr)
c.986T>C (p.Met329Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.664892T>GCA355919612PDE6Bc.2141T>G (p.Met714Arg)
c.1304T>G (p.Met435Arg)
n.511T>G
c.221T>G (p.Met74Arg)
c.2360T>G (p.Met787Arg)
c.1346T>G (p.Met449Arg)
c.1070T>G (p.Met357Arg)
c.986T>G (p.Met329Arg)
4g.664892T=CA1432854201PDE6Bc.2141T= (p.Met714=)
c.1304T= (p.Met435=)
n.511T=
c.221T= (p.Met74=)
c.2360T= (p.Met787=)
c.1346T= (p.Met449=)
c.1070T= (p.Met357=)
c.986T= (p.Met329=)
4g.664893G>ACA355919615PDE6Bc.2142G>A (p.Met714Ile)
c.1305G>A (p.Met435Ile)
n.512G>A
c.222G>A (p.Met74Ile)
c.2361G>A (p.Met787Ile)
c.1347G>A (p.Met449Ile)
c.1071G>A (p.Met357Ile)
c.987G>A (p.Met329Ile)
 gnomAD v4
4g.664893G>CCA355919613PDE6Bc.2142G>C (p.Met714Ile)
c.1305G>C (p.Met435Ile)
n.512G>C
c.222G>C (p.Met74Ile)
c.2361G>C (p.Met787Ile)
c.1347G>C (p.Met449Ile)
c.1071G>C (p.Met357Ile)
c.987G>C (p.Met329Ile)
4g.664893G>TCA355919614PDE6Bc.2142G>T (p.Met714Ile)
c.1305G>T (p.Met435Ile)
n.512G>T
c.222G>T (p.Met74Ile)
c.2361G>T (p.Met787Ile)
c.1347G>T (p.Met449Ile)
c.1071G>T (p.Met357Ile)
c.987G>T (p.Met329Ile)
4g.664893_664895dupCA1432854207PDE6Bc.2142_2144dup (p.Thr715_Ala716insThr)
c.1305_1307dup (p.Thr436_Ala437insThr)
n.512_514dup
c.222_224dup (p.Thr75_Ala76insThr)
c.2361_2363dup (p.Thr788_Ala789insThr)
c.1347_1349dup (p.Thr450_Ala451insThr)
c.1071_1073dup (p.Thr358_Ala359insThr)
c.987_989dup (p.Thr330_Ala331insThr)
 dbSNP gnomAD v4
4g.664894A=CA1432854209PDE6Bc.2143A= (p.Thr715=)
c.1306A= (p.Thr436=)
n.513A=
c.223A= (p.Thr75=)
c.2362A= (p.Thr788=)
c.1348A= (p.Thr450=)
c.1072A= (p.Thr358=)
c.988A= (p.Thr330=)
4g.664894A>CCA355919616PDE6Bc.2143A>C (p.Thr715Pro)
c.1306A>C (p.Thr436Pro)
n.513A>C
c.223A>C (p.Thr75Pro)
c.2362A>C (p.Thr788Pro)
c.1348A>C (p.Thr450Pro)
c.1072A>C (p.Thr358Pro)
c.988A>C (p.Thr330Pro)
4g.664894A>GCA355919618PDE6Bc.2143A>G (p.Thr715Ala)
c.1306A>G (p.Thr436Ala)
n.513A>G
c.223A>G (p.Thr75Ala)
c.2362A>G (p.Thr788Ala)
c.1348A>G (p.Thr450Ala)
c.1072A>G (p.Thr358Ala)
c.988A>G (p.Thr330Ala)
 dbSNP
4g.664894A>TCA355919619PDE6Bc.2143A>T (p.Thr715Ser)
c.1306A>T (p.Thr436Ser)
n.513A>T
c.223A>T (p.Thr75Ser)
c.2362A>T (p.Thr788Ser)
c.1348A>T (p.Thr450Ser)
c.1072A>T (p.Thr358Ser)
c.988A>T (p.Thr330Ser)
4g.664895C>ACA355919621PDE6Bc.2144C>A (p.Thr715Lys)
c.1307C>A (p.Thr436Lys)
n.514C>A
c.224C>A (p.Thr75Lys)
c.2363C>A (p.Thr788Lys)
c.1349C>A (p.Thr450Lys)
c.1073C>A (p.Thr358Lys)
c.989C>A (p.Thr330Lys)
4g.664895C=CA1432854215PDE6Bc.2144C= (p.Thr715=)
c.1307C= (p.Thr436=)
n.514C=
c.224C= (p.Thr75=)
c.2363C= (p.Thr788=)
c.1349C= (p.Thr450=)
c.1073C= (p.Thr358=)
c.989C= (p.Thr330=)
4g.664895C>GCA355919623PDE6Bc.2144C>G (p.Thr715Arg)
c.1307C>G (p.Thr436Arg)
n.514C>G
c.224C>G (p.Thr75Arg)
c.2363C>G (p.Thr788Arg)
c.1349C>G (p.Thr450Arg)
c.1073C>G (p.Thr358Arg)
c.989C>G (p.Thr330Arg)
4g.664895C>TCA355919624PDE6Bc.2144C>T (p.Thr715Ile)
c.1307C>T (p.Thr436Ile)
n.514C>T
c.224C>T (p.Thr75Ile)
c.2363C>T (p.Thr788Ile)
c.1349C>T (p.Thr450Ile)
c.1073C>T (p.Thr358Ile)
c.989C>T (p.Thr330Ile)
 dbSNP gnomAD v4
4g.664896A>CCA437901009PDE6Bc.2145A>C (p.Thr715=)
c.1308A>C (p.Thr436=)
n.515A>C
c.225A>C (p.Thr75=)
c.2364A>C (p.Thr788=)
c.1350A>C (p.Thr450=)
c.1074A>C (p.Thr358=)
c.990A>C (p.Thr330=)
4g.664896A>GCA437901008PDE6Bc.2145A>G (p.Thr715=)
c.1308A>G (p.Thr436=)
n.515A>G
c.225A>G (p.Thr75=)
c.2364A>G (p.Thr788=)
c.1350A>G (p.Thr450=)
c.1074A>G (p.Thr358=)
c.990A>G (p.Thr330=)
4g.664896A>TCA437901010PDE6Bc.2145A>T (p.Thr715=)
c.1308A>T (p.Thr436=)
n.515A>T
c.225A>T (p.Thr75=)
c.2364A>T (p.Thr788=)
c.1350A>T (p.Thr450=)
c.1074A>T (p.Thr358=)
c.990A>T (p.Thr330=)
4g.664897G>ACA355919626PDE6Bc.2146G>A (p.Ala716Thr)
c.1309G>A (p.Ala437Thr)
n.516G>A
c.226G>A (p.Ala76Thr)
c.2365G>A (p.Ala789Thr)
c.1351G>A (p.Ala451Thr)
c.1075G>A (p.Ala359Thr)
c.991G>A (p.Ala331Thr)
4g.664897G>CCA355919628PDE6Bc.2146G>C (p.Ala716Pro)
c.1309G>C (p.Ala437Pro)
n.516G>C
c.226G>C (p.Ala76Pro)
c.2365G>C (p.Ala789Pro)
c.1351G>C (p.Ala451Pro)
c.1075G>C (p.Ala359Pro)
c.991G>C (p.Ala331Pro)
 gnomAD v4
4g.664897G>TCA355919630PDE6Bc.2146G>T (p.Ala716Ser)
c.1309G>T (p.Ala437Ser)
n.516G>T
c.226G>T (p.Ala76Ser)
c.2365G>T (p.Ala789Ser)
c.1351G>T (p.Ala451Ser)
c.1075G>T (p.Ala359Ser)
c.991G>T (p.Ala331Ser)
4g.664898C>ACA355919632PDE6Bc.2147C>A (p.Ala716Asp)
c.1310C>A (p.Ala437Asp)
n.517C>A
c.227C>A (p.Ala76Asp)
c.2366C>A (p.Ala789Asp)
c.1352C>A (p.Ala451Asp)
c.1076C>A (p.Ala359Asp)
c.992C>A (p.Ala331Asp)
4g.664898C=CA1432854219PDE6Bc.2147C= (p.Ala716=)
c.1310C= (p.Ala437=)
n.517C=
c.227C= (p.Ala76=)
c.2366C= (p.Ala789=)
c.1352C= (p.Ala451=)
c.1076C= (p.Ala359=)
c.992C= (p.Ala331=)
4g.664898C>GCA355919634PDE6Bc.2147C>G (p.Ala716Gly)
c.1310C>G (p.Ala437Gly)
n.517C>G
c.227C>G (p.Ala76Gly)
c.2366C>G (p.Ala789Gly)
c.1352C>G (p.Ala451Gly)
c.1076C>G (p.Ala359Gly)
c.992C>G (p.Ala331Gly)
4g.664898C>TCA2794909PDE6Bc.2147C>T (p.Ala716Val)
c.1310C>T (p.Ala437Val)
n.517C>T
c.227C>T (p.Ala76Val)
c.2366C>T (p.Ala789Val)
c.1352C>T (p.Ala451Val)
c.1076C>T (p.Ala359Val)
c.992C>T (p.Ala331Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.664899C>ACA437901019PDE6Bc.2148C>A (p.Ala716=)
c.1311C>A (p.Ala437=)
n.518C>A
c.228C>A (p.Ala76=)
c.2367C>A (p.Ala789=)
c.1353C>A (p.Ala451=)
c.1077C>A (p.Ala359=)
c.993C>A (p.Ala331=)
 dbSNP gnomAD v2 gnomAD v4
4g.664899C=CA1432854229PDE6Bc.2148C= (p.Ala716=)
c.1311C= (p.Ala437=)
n.518C=
c.228C= (p.Ala76=)
c.2367C= (p.Ala789=)
c.1353C= (p.Ala451=)
c.1077C= (p.Ala359=)
c.993C= (p.Ala331=)
4g.664899C>GCA437901017PDE6Bc.2148C>G (p.Ala716=)
c.1311C>G (p.Ala437=)
n.518C>G
c.228C>G (p.Ala76=)
c.2367C>G (p.Ala789=)
c.1353C>G (p.Ala451=)
c.1077C>G (p.Ala359=)
c.993C>G (p.Ala331=)
4g.664899C>TCA437901018PDE6Bc.2148C>T (p.Ala716=)
c.1311C>T (p.Ala437=)
n.518C>T
c.228C>T (p.Ala76=)
c.2367C>T (p.Ala789=)
c.1353C>T (p.Ala451=)
c.1077C>T (p.Ala359=)
c.993C>T (p.Ala331=)
4g.664900T>ACA355919637PDE6Bc.2149T>A (p.Cys717Ser)
c.1312T>A (p.Cys438Ser)
n.519T>A
c.229T>A (p.Cys77Ser)
c.2368T>A (p.Cys790Ser)
c.1354T>A (p.Cys452Ser)
c.1078T>A (p.Cys360Ser)
c.994T>A (p.Cys332Ser)
4g.664900T>CCA355919639PDE6Bc.2149T>C (p.Cys717Arg)
c.1312T>C (p.Cys438Arg)
n.519T>C
c.229T>C (p.Cys77Arg)
c.2368T>C (p.Cys790Arg)
c.1354T>C (p.Cys452Arg)
c.1078T>C (p.Cys360Arg)
c.994T>C (p.Cys332Arg)
4g.664900T>GCA355919635PDE6Bc.2149T>G (p.Cys717Gly)
c.1312T>G (p.Cys438Gly)
n.519T>G
c.229T>G (p.Cys77Gly)
c.2368T>G (p.Cys790Gly)
c.1354T>G (p.Cys452Gly)
c.1078T>G (p.Cys360Gly)
c.994T>G (p.Cys332Gly)
4g.664901G>ACA2794910PDE6Bc.2150G>A (p.Cys717Tyr)
c.1313G>A (p.Cys438Tyr)
n.520G>A
c.230G>A (p.Cys77Tyr)
c.2369G>A (p.Cys790Tyr)
c.1355G>A (p.Cys452Tyr)
c.1079G>A (p.Cys360Tyr)
c.995G>A (p.Cys332Tyr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.664901G>CCA355919642PDE6Bc.2150G>C (p.Cys717Ser)
c.1313G>C (p.Cys438Ser)
n.520G>C
c.230G>C (p.Cys77Ser)
c.2369G>C (p.Cys790Ser)
c.1355G>C (p.Cys452Ser)
c.1079G>C (p.Cys360Ser)
c.995G>C (p.Cys332Ser)
4g.664901G=CA1432854234PDE6Bc.2150G= (p.Cys717=)
c.1313G= (p.Cys438=)
n.520G=
c.230G= (p.Cys77=)
c.2369G= (p.Cys790=)
c.1355G= (p.Cys452=)
c.1079G= (p.Cys360=)
c.995G= (p.Cys332=)
4g.664901G>TCA355919644PDE6Bc.2150G>T (p.Cys717Phe)
c.1313G>T (p.Cys438Phe)
n.520G>T
c.230G>T (p.Cys77Phe)
c.2369G>T (p.Cys790Phe)
c.1355G>T (p.Cys452Phe)
c.1079G>T (p.Cys360Phe)
c.995G>T (p.Cys332Phe)
4g.664902C>ACA355919647PDE6Bc.2151C>A (p.Cys717Ter)
c.1314C>A (p.Cys438Ter)
n.521C>A
c.231C>A (p.Cys77Ter)
c.2370C>A (p.Cys790Ter)
c.1356C>A (p.Cys452Ter)
c.1080C>A (p.Cys360Ter)
c.996C>A (p.Cys332Ter)
4g.664902C=CA1432854237PDE6Bc.2151C= (p.Cys717=)
c.1314C= (p.Cys438=)
n.521C=
c.231C= (p.Cys77=)
c.2370C= (p.Cys790=)
c.1356C= (p.Cys452=)
c.1080C= (p.Cys360=)
c.996C= (p.Cys332=)
4g.664902C>GCA355919649PDE6Bc.2151C>G (p.Cys717Trp)
c.1314C>G (p.Cys438Trp)
n.521C>G
c.231C>G (p.Cys77Trp)
c.2370C>G (p.Cys790Trp)
c.1356C>G (p.Cys452Trp)
c.1080C>G (p.Cys360Trp)
c.996C>G (p.Cys332Trp)
4g.664902C>TCA2794911PDE6Bc.2151C>T (p.Cys717=)
c.1314C>T (p.Cys438=)
n.521C>T
c.231C>T (p.Cys77=)
c.2370C>T (p.Cys790=)
c.1356C>T (p.Cys452=)
c.1080C>T (p.Cys360=)
c.996C>T (p.Cys332=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
4g.664903G>ACA2794912PDE6Bc.2152G>A (p.Asp718Asn)
c.1315G>A (p.Asp439Asn)
n.522G>A
c.232G>A (p.Asp78Asn)
c.2371G>A (p.Asp791Asn)
c.1357G>A (p.Asp453Asn)
c.1081G>A (p.Asp361Asn)
c.997G>A (p.Asp333Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.664903G>CCA355919652PDE6Bc.2152G>C (p.Asp718His)
c.1315G>C (p.Asp439His)
n.522G>C
c.232G>C (p.Asp78His)
c.2371G>C (p.Asp791His)
c.1357G>C (p.Asp453His)
c.1081G>C (p.Asp361His)
c.997G>C (p.Asp333His)
 dbSNP gnomAD v3 gnomAD v4
4g.664903G=CA1432854247PDE6Bc.2152G= (p.Asp718=)
c.1315G= (p.Asp439=)
n.522G=
c.232G= (p.Asp78=)
c.2371G= (p.Asp791=)
c.1357G= (p.Asp453=)
c.1081G= (p.Asp361=)
c.997G= (p.Asp333=)
4g.664903G>TCA2794913PDE6Bc.2152G>T (p.Asp718Tyr)
c.1315G>T (p.Asp439Tyr)
n.522G>T
c.232G>T (p.Asp78Tyr)
c.2371G>T (p.Asp791Tyr)
c.1357G>T (p.Asp453Tyr)
c.1081G>T (p.Asp361Tyr)
c.997G>T (p.Asp333Tyr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.664904A>CCA355919656PDE6Bc.2153A>C (p.Asp718Ala)
c.1316A>C (p.Asp439Ala)
n.523A>C
c.233A>C (p.Asp78Ala)
c.2372A>C (p.Asp791Ala)
c.1358A>C (p.Asp453Ala)
c.1082A>C (p.Asp361Ala)
c.998A>C (p.Asp333Ala)
4g.664904A>GCA355919659PDE6Bc.2153A>G (p.Asp718Gly)
c.1316A>G (p.Asp439Gly)
n.523A>G
c.233A>G (p.Asp78Gly)
c.2372A>G (p.Asp791Gly)
c.1358A>G (p.Asp453Gly)
c.1082A>G (p.Asp361Gly)
c.998A>G (p.Asp333Gly)
4g.664904A>TCA355919657PDE6Bc.2153A>T (p.Asp718Val)
c.1316A>T (p.Asp439Val)
n.523A>T
c.233A>T (p.Asp78Val)
c.2372A>T (p.Asp791Val)
c.1358A>T (p.Asp453Val)
c.1082A>T (p.Asp361Val)
c.998A>T (p.Asp333Val)
4g.664905C>ACA355919661PDE6Bc.2154C>A (p.Asp718Glu)
c.1317C>A (p.Asp439Glu)
n.524C>A
c.234C>A (p.Asp78Glu)
c.2373C>A (p.Asp791Glu)
c.1359C>A (p.Asp453Glu)
c.1083C>A (p.Asp361Glu)
c.999C>A (p.Asp333Glu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.664905C=CA1432854267PDE6Bc.2154C= (p.Asp718=)
c.1317C= (p.Asp439=)
n.524C=
c.234C= (p.Asp78=)
c.2373C= (p.Asp791=)
c.1359C= (p.Asp453=)
c.1083C= (p.Asp361=)
c.999C= (p.Asp333=)
4g.664905C>GCA355919662PDE6Bc.2154C>G (p.Asp718Glu)
c.1317C>G (p.Asp439Glu)
n.524C>G
c.234C>G (p.Asp78Glu)
c.2373C>G (p.Asp791Glu)
c.1359C>G (p.Asp453Glu)
c.1083C>G (p.Asp361Glu)
c.999C>G (p.Asp333Glu)
4g.664905C>TCA2794914PDE6Bc.2154C>T (p.Asp718=)
c.1317C>T (p.Asp439=)
n.524C>T
c.234C>T (p.Asp78=)
c.2373C>T (p.Asp791=)
c.1359C>T (p.Asp453=)
c.1083C>T (p.Asp361=)
c.999C>T (p.Asp333=)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.664906C>ACA355919664PDE6Bc.2155C>A (p.Leu719Met)
c.1318C>A (p.Leu440Met)
n.525C>A
c.235C>A (p.Leu79Met)
c.2374C>A (p.Leu792Met)
c.1360C>A (p.Leu454Met)
c.1084C>A (p.Leu362Met)
c.1000C>A (p.Leu334Met)
4g.664906C>GCA355919666PDE6Bc.2155C>G (p.Leu719Val)
c.1318C>G (p.Leu440Val)
n.525C>G
c.235C>G (p.Leu79Val)
c.2374C>G (p.Leu792Val)
c.1360C>G (p.Leu454Val)
c.1084C>G (p.Leu362Val)
c.1000C>G (p.Leu334Val)
 gnomAD v4
4g.664906C>TCA437901027PDE6Bc.2155C>T (p.Leu719=)
c.1318C>T (p.Leu440=)
n.525C>T
c.235C>T (p.Leu79=)
c.2374C>T (p.Leu792=)
c.1360C>T (p.Leu454=)
c.1084C>T (p.Leu362=)
c.1000C>T (p.Leu334=)
4g.664907T>ACA355919668PDE6Bc.2156T>A (p.Leu719Gln)
c.1319T>A (p.Leu440Gln)
n.526T>A
c.236T>A (p.Leu79Gln)
c.2375T>A (p.Leu792Gln)
c.1361T>A (p.Leu454Gln)
c.1085T>A (p.Leu362Gln)
c.1001T>A (p.Leu334Gln)
4g.664907T>CCA355919671PDE6Bc.2156T>C (p.Leu719Pro)
c.1319T>C (p.Leu440Pro)
n.526T>C
c.236T>C (p.Leu79Pro)
c.2375T>C (p.Leu792Pro)
c.1361T>C (p.Leu454Pro)
c.1085T>C (p.Leu362Pro)
c.1001T>C (p.Leu334Pro)
 dbSNP gnomAD v2
4g.664907T>GCA355919670PDE6Bc.2156T>G (p.Leu719Arg)
c.1319T>G (p.Leu440Arg)
n.526T>G
c.236T>G (p.Leu79Arg)
c.2375T>G (p.Leu792Arg)
c.1361T>G (p.Leu454Arg)
c.1085T>G (p.Leu362Arg)
c.1001T>G (p.Leu334Arg)
4g.664907T=CA1432854272PDE6Bc.2156T= (p.Leu719=)
c.1319T= (p.Leu440=)
n.526T=
c.236T= (p.Leu79=)
c.2375T= (p.Leu792=)
c.1361T= (p.Leu454=)
c.1085T= (p.Leu362=)
c.1001T= (p.Leu334=)
4g.664908G>ACA437901028PDE6Bc.2157G>A (p.Leu719=)
c.1320G>A (p.Leu440=)
n.527G>A
c.237G>A (p.Leu79=)
c.2376G>A (p.Leu792=)
c.1362G>A (p.Leu454=)
c.1086G>A (p.Leu362=)
c.1002G>A (p.Leu334=)
 dbSNP gnomAD v3 gnomAD v4
4g.664908G>CCA437901029PDE6Bc.2157G>C (p.Leu719=)
c.1320G>C (p.Leu440=)
n.527G>C
c.237G>C (p.Leu79=)
c.2376G>C (p.Leu792=)
c.1362G>C (p.Leu454=)
c.1086G>C (p.Leu362=)
c.1002G>C (p.Leu334=)
 dbSNP
4g.664908G=CA1432854278PDE6Bc.2157G= (p.Leu719=)
c.1320G= (p.Leu440=)
n.527G=
c.237G= (p.Leu79=)
c.2376G= (p.Leu792=)
c.1362G= (p.Leu454=)
c.1086G= (p.Leu362=)
c.1002G= (p.Leu334=)
4g.664908G>TCA437901030PDE6Bc.2157G>T (p.Leu719=)
c.1320G>T (p.Leu440=)
n.527G>T
c.237G>T (p.Leu79=)
c.2376G>T (p.Leu792=)
c.1362G>T (p.Leu454=)
c.1086G>T (p.Leu362=)
c.1002G>T (p.Leu334=)
4g.664909T>ACA355919674PDE6Bc.2158T>A (p.Ser720Thr)
c.1321T>A (p.Ser441Thr)
n.528T>A
c.238T>A (p.Ser80Thr)
c.2377T>A (p.Ser793Thr)
c.1363T>A (p.Ser455Thr)
c.1087T>A (p.Ser363Thr)
c.1003T>A (p.Ser335Thr)
4g.664909T>CCA355919675PDE6Bc.2158T>C (p.Ser720Pro)
c.1321T>C (p.Ser441Pro)
n.528T>C
c.238T>C (p.Ser80Pro)
c.2377T>C (p.Ser793Pro)
c.1363T>C (p.Ser455Pro)
c.1087T>C (p.Ser363Pro)
c.1003T>C (p.Ser335Pro)
4g.664909T>GCA355919677PDE6Bc.2158T>G (p.Ser720Ala)
c.1321T>G (p.Ser441Ala)
n.528T>G
c.238T>G (p.Ser80Ala)
c.2377T>G (p.Ser793Ala)
c.1363T>G (p.Ser455Ala)
c.1087T>G (p.Ser363Ala)
c.1003T>G (p.Ser335Ala)
4g.664910C>ACA355919678PDE6Bc.2159C>A (p.Ser720Tyr)
c.1322C>A (p.Ser441Tyr)
n.529C>A
c.1C>A
c.239C>A (p.Ser80Tyr)
c.2378C>A (p.Ser793Tyr)
c.1364C>A (p.Ser455Tyr)
c.1088C>A (p.Ser363Tyr)
c.1004C>A (p.Ser335Tyr)
 gnomAD v4
4g.664910C=CA1432854285PDE6Bc.2159C= (p.Ser720=)
c.1322C= (p.Ser441=)
n.529C=
c.1C=
c.239C= (p.Ser80=)
c.2378C= (p.Ser793=)
c.1364C= (p.Ser455=)
c.1088C= (p.Ser363=)
c.1004C= (p.Ser335=)
4g.664910C>GCA355919680PDE6Bc.2159C>G (p.Ser720Cys)
c.1322C>G (p.Ser441Cys)
n.529C>G
c.1C>G
c.239C>G (p.Ser80Cys)
c.2378C>G (p.Ser793Cys)
c.1364C>G (p.Ser455Cys)
c.1088C>G (p.Ser363Cys)
c.1004C>G (p.Ser335Cys)
4g.664910C>TCA355919681PDE6Bc.2159C>T (p.Ser720Phe)
c.1322C>T (p.Ser441Phe)
n.529C>T
c.1C>T
c.239C>T (p.Ser80Phe)
c.2378C>T (p.Ser793Phe)
c.1364C>T (p.Ser455Phe)
c.1088C>T (p.Ser363Phe)
c.1004C>T (p.Ser335Phe)
 dbSNP
4g.664911T>ACA437901037PDE6Bc.2160T>A (p.Ser720=)
c.1323T>A (p.Ser441=)
n.530T>A
c.2T>A
c.240T>A (p.Ser80=)
c.2379T>A (p.Ser793=)
c.1365T>A (p.Ser455=)
c.1089T>A (p.Ser363=)
c.1005T>A (p.Ser335=)
 gnomAD v4
4g.664911T>CCA437901038PDE6Bc.2160T>C (p.Ser720=)
c.1323T>C (p.Ser441=)
n.530T>C
c.2T>C
c.240T>C (p.Ser80=)
c.2379T>C (p.Ser793=)
c.1365T>C (p.Ser455=)
c.1089T>C (p.Ser363=)
c.1005T>C (p.Ser335=)
4g.664911T>GCA437901039PDE6Bc.2160T>G (p.Ser720=)
c.1323T>G (p.Ser441=)
n.530T>G
c.2T>G
c.240T>G (p.Ser80=)
c.2379T>G (p.Ser793=)
c.1365T>G (p.Ser455=)
c.1089T>G (p.Ser363=)
c.1005T>G (p.Ser335=)
4g.664912G>ACA355919682PDE6Bc.2161G>A (p.Ala721Thr)
c.1324G>A (p.Ala442Thr)
n.531G>A
c.3G>A
c.241G>A (p.Ala81Thr)
c.2380G>A (p.Ala794Thr)
c.1366G>A (p.Ala456Thr)
c.1090G>A (p.Ala364Thr)
c.1006G>A (p.Ala336Thr)
4g.664912G>CCA355919684PDE6Bc.2161G>C (p.Ala721Pro)
c.1324G>C (p.Ala442Pro)
n.531G>C
c.3G>C
c.241G>C (p.Ala81Pro)
c.2380G>C (p.Ala794Pro)
c.1366G>C (p.Ala456Pro)
c.1090G>C (p.Ala364Pro)
c.1006G>C (p.Ala336Pro)
4g.664912G>TCA355919686PDE6Bc.2161G>T (p.Ala721Ser)
c.1324G>T (p.Ala442Ser)
n.531G>T
c.3G>T
c.241G>T (p.Ala81Ser)
c.2380G>T (p.Ala794Ser)
c.1366G>T (p.Ala456Ser)
c.1090G>T (p.Ala364Ser)
c.1006G>T (p.Ala336Ser)
4g.664913C>ACA355919688PDE6Bc.2162C>A (p.Ala721Asp)
c.1325C>A (p.Ala442Asp)
n.532C>A
c.4C>A
c.242C>A (p.Ala81Asp)
c.2381C>A (p.Ala794Asp)
c.1367C>A (p.Ala456Asp)
c.1091C>A (p.Ala364Asp)
c.1007C>A (p.Ala336Asp)
 dbSNP gnomAD v2 gnomAD v4
4g.664913C=CA1432854290PDE6Bc.2162C= (p.Ala721=)
c.1325C= (p.Ala442=)
n.532C=
c.4C=
c.242C= (p.Ala81=)
c.2381C= (p.Ala794=)
c.1367C= (p.Ala456=)
c.1091C= (p.Ala364=)
c.1007C= (p.Ala336=)
4g.664913C>GCA355919690PDE6Bc.2162C>G (p.Ala721Gly)
c.1325C>G (p.Ala442Gly)
n.532C>G
c.4C>G
c.242C>G (p.Ala81Gly)
c.2381C>G (p.Ala794Gly)
c.1367C>G (p.Ala456Gly)
c.1091C>G (p.Ala364Gly)
c.1007C>G (p.Ala336Gly)
4g.664913C>TCA355919692PDE6Bc.2162C>T (p.Ala721Val)
c.1325C>T (p.Ala442Val)
n.532C>T
c.4C>T
c.242C>T (p.Ala81Val)
c.2381C>T (p.Ala794Val)
c.1367C>T (p.Ala456Val)
c.1091C>T (p.Ala364Val)
c.1007C>T (p.Ala336Val)
 gnomAD v4 COSMIC
4g.664914C>ACA437901043PDE6Bc.2163C>A (p.Ala721=)
c.1326C>A (p.Ala442=)
n.533C>A
c.5C>A
c.243C>A (p.Ala81=)
c.2382C>A (p.Ala794=)
c.1368C>A (p.Ala456=)
c.1092C>A (p.Ala364=)
c.1008C>A (p.Ala336=)
4g.664914C=CA1432854295PDE6Bc.2163C= (p.Ala721=)
c.1326C= (p.Ala442=)
n.533C=
c.5C=
c.243C= (p.Ala81=)
c.2382C= (p.Ala794=)
c.1368C= (p.Ala456=)
c.1092C= (p.Ala364=)
c.1008C= (p.Ala336=)
4g.664914C>GCA437901044PDE6Bc.2163C>G (p.Ala721=)
c.1326C>G (p.Ala442=)
n.533C>G
c.5C>G
c.243C>G (p.Ala81=)
c.2382C>G (p.Ala794=)
c.1368C>G (p.Ala456=)
c.1092C>G (p.Ala364=)
c.1008C>G (p.Ala336=)
4g.664914C>TCA437901045PDE6Bc.2163C>T (p.Ala721=)
c.1326C>T (p.Ala442=)
n.533C>T
c.5C>T
c.243C>T (p.Ala81=)
c.2382C>T (p.Ala794=)
c.1368C>T (p.Ala456=)
c.1092C>T (p.Ala364=)
c.1008C>T (p.Ala336=)
 dbSNP
4g.664915A=CA1432854301PDE6Bc.2164A= (p.Ile722=)
c.1327A= (p.Ile443=)
n.534A=
c.6A=
c.244A= (p.Ile82=)
c.2383A= (p.Ile795=)
c.1369A= (p.Ile457=)
c.1093A= (p.Ile365=)
c.1009A= (p.Ile337=)
4g.664915A>CCA2794915PDE6Bc.2164A>C (p.Ile722Leu)
c.1327A>C (p.Ile443Leu)
n.534A>C
c.6A>C
c.244A>C (p.Ile82Leu)
c.2383A>C (p.Ile795Leu)
c.1369A>C (p.Ile457Leu)
c.1093A>C (p.Ile365Leu)
c.1009A>C (p.Ile337Leu)
 dbSNP ExAC gnomAD v2
4g.664915A>GCA355919694PDE6Bc.2164A>G (p.Ile722Val)
c.1327A>G (p.Ile443Val)
n.534A>G
c.6A>G
c.244A>G (p.Ile82Val)
c.2383A>G (p.Ile795Val)
c.1369A>G (p.Ile457Val)
c.1093A>G (p.Ile365Val)
c.1009A>G (p.Ile337Val)
 dbSNP gnomAD v3 gnomAD v4
4g.664915A>TCA355919696PDE6Bc.2164A>T (p.Ile722Phe)
c.1327A>T (p.Ile443Phe)
n.534A>T
c.6A>T
c.244A>T (p.Ile82Phe)
c.2383A>T (p.Ile795Phe)
c.1369A>T (p.Ile457Phe)
c.1093A>T (p.Ile365Phe)
c.1009A>T (p.Ile337Phe)
4g.664916T>ACA355919699PDE6Bc.2165T>A (p.Ile722Asn)
c.1328T>A (p.Ile443Asn)
n.535T>A
c.7T>A
c.245T>A (p.Ile82Asn)
c.2384T>A (p.Ile795Asn)
c.1370T>A (p.Ile457Asn)
c.1094T>A (p.Ile365Asn)
c.1010T>A (p.Ile337Asn)
4g.664916T>CCA355919700PDE6Bc.2165T>C (p.Ile722Thr)
c.1328T>C (p.Ile443Thr)
n.535T>C
c.7T>C
c.245T>C (p.Ile82Thr)
c.2384T>C (p.Ile795Thr)
c.1370T>C (p.Ile457Thr)
c.1094T>C (p.Ile365Thr)
c.1010T>C (p.Ile337Thr)
4g.664916T>GCA355919702PDE6Bc.2165T>G (p.Ile722Ser)
c.1328T>G (p.Ile443Ser)
n.535T>G
c.7T>G
c.245T>G (p.Ile82Ser)
c.2384T>G (p.Ile795Ser)
c.1370T>G (p.Ile457Ser)
c.1094T>G (p.Ile365Ser)
c.1010T>G (p.Ile337Ser)
4g.664917C>ACA437901048PDE6Bc.2166C>A (p.Ile722=)
c.1329C>A (p.Ile443=)
n.536C>A
c.8C>A
c.246C>A (p.Ile82=)
c.2385C>A (p.Ile795=)
c.1371C>A (p.Ile457=)
c.1095C>A (p.Ile365=)
c.1011C>A (p.Ile337=)
 dbSNP gnomAD v4
4g.664917C=CA1432854304PDE6Bc.2166C= (p.Ile722=)
c.1329C= (p.Ile443=)
n.536C=
c.8C=
c.246C= (p.Ile82=)
c.2385C= (p.Ile795=)
c.1371C= (p.Ile457=)
c.1095C= (p.Ile365=)
c.1011C= (p.Ile337=)
4g.664917C>GCA355919704PDE6Bc.2166C>G (p.Ile722Met)
c.1329C>G (p.Ile443Met)
n.536C>G
c.8C>G
c.246C>G (p.Ile82Met)
c.2385C>G (p.Ile795Met)
c.1371C>G (p.Ile457Met)
c.1095C>G (p.Ile365Met)
c.1011C>G (p.Ile337Met)
4g.664917C>TCA2794916PDE6Bc.2166C>T (p.Ile722=)
c.1329C>T (p.Ile443=)
n.536C>T
c.8C>T
c.246C>T (p.Ile82=)
c.2385C>T (p.Ile795=)
c.1371C>T (p.Ile457=)
c.1095C>T (p.Ile365=)
c.1011C>T (p.Ile337=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.664918A>CCA355919710PDE6Bc.2167A>C (p.Thr723Pro)
c.1330A>C (p.Thr444Pro)
n.537A>C
c.9A>C
c.247A>C (p.Thr83Pro)
c.2386A>C (p.Thr796Pro)
c.1372A>C (p.Thr458Pro)
c.1096A>C (p.Thr366Pro)
c.1012A>C (p.Thr338Pro)
4g.664918A>GCA355919709PDE6Bc.2167A>G (p.Thr723Ala)
c.1330A>G (p.Thr444Ala)
n.537A>G
c.9A>G
c.247A>G (p.Thr83Ala)
c.2386A>G (p.Thr796Ala)
c.1372A>G (p.Thr458Ala)
c.1096A>G (p.Thr366Ala)
c.1012A>G (p.Thr338Ala)
 gnomAD v4
4g.664918A>TCA355919707PDE6Bc.2167A>T (p.Thr723Ser)
c.1330A>T (p.Thr444Ser)
n.537A>T
c.9A>T
c.247A>T (p.Thr83Ser)
c.2386A>T (p.Thr796Ser)
c.1372A>T (p.Thr458Ser)
c.1096A>T (p.Thr366Ser)
c.1012A>T (p.Thr338Ser)
4g.664919C>ACA355919712PDE6Bc.2168C>A (p.Thr723Asn)
c.1331C>A (p.Thr444Asn)
n.538C>A
c.10C>A
c.248C>A (p.Thr83Asn)
c.2387C>A (p.Thr796Asn)
c.1373C>A (p.Thr458Asn)
c.1097C>A (p.Thr366Asn)
c.1013C>A (p.Thr338Asn)
4g.664919C>GCA355919714PDE6Bc.2168C>G (p.Thr723Ser)
c.1331C>G (p.Thr444Ser)
n.538C>G
c.10C>G
c.248C>G (p.Thr83Ser)
c.2387C>G (p.Thr796Ser)
c.1373C>G (p.Thr458Ser)
c.1097C>G (p.Thr366Ser)
c.1013C>G (p.Thr338Ser)
4g.664919C>TCA355919716PDE6Bc.2168C>T (p.Thr723Ile)
c.1331C>T (p.Thr444Ile)
n.538C>T
c.10C>T
c.248C>T (p.Thr83Ile)
c.2387C>T (p.Thr796Ile)
c.1373C>T (p.Thr458Ile)
c.1097C>T (p.Thr366Ile)
c.1013C>T (p.Thr338Ile)
4g.664920C>ACA437901053PDE6Bc.2169C>A (p.Thr723=)
c.1332C>A (p.Thr444=)
n.539C>A
c.11C>A
c.249C>A (p.Thr83=)
c.2388C>A (p.Thr796=)
c.1374C>A (p.Thr458=)
c.1098C>A (p.Thr366=)
c.1014C>A (p.Thr338=)
4g.664920C=CA1432854308PDE6Bc.2169C= (p.Thr723=)
c.1332C= (p.Thr444=)
n.539C=
c.11C=
c.249C= (p.Thr83=)
c.2388C= (p.Thr796=)
c.1374C= (p.Thr458=)
c.1098C= (p.Thr366=)
c.1014C= (p.Thr338=)
4g.664920C>GCA437901055PDE6Bc.2169C>G (p.Thr723=)
c.1332C>G (p.Thr444=)
n.539C>G
c.11C>G
c.249C>G (p.Thr83=)
c.2388C>G (p.Thr796=)
c.1374C>G (p.Thr458=)
c.1098C>G (p.Thr366=)
c.1014C>G (p.Thr338=)
4g.664920C>TCA437901054PDE6Bc.2169C>T (p.Thr723=)
c.1332C>T (p.Thr444=)
n.539C>T
c.11C>T
c.249C>T (p.Thr83=)
c.2388C>T (p.Thr796=)
c.1374C>T (p.Thr458=)
c.1098C>T (p.Thr366=)
c.1014C>T (p.Thr338=)
 dbSNP gnomAD v4
4g.664921A>CCA355919718PDE6Bc.2170A>C (p.Lys724Gln)
c.1333A>C (p.Lys445Gln)
n.540A>C
c.12A>C
c.250A>C (p.Lys84Gln)
c.2389A>C (p.Lys797Gln)
c.1375A>C (p.Lys459Gln)
c.1099A>C (p.Lys367Gln)
c.1015A>C (p.Lys339Gln)
 gnomAD v4
4g.664921A>GCA355919719PDE6Bc.2170A>G (p.Lys724Glu)
c.1333A>G (p.Lys445Glu)
n.540A>G
c.12A>G
c.250A>G (p.Lys84Glu)
c.2389A>G (p.Lys797Glu)
c.1375A>G (p.Lys459Glu)
c.1099A>G (p.Lys367Glu)
c.1015A>G (p.Lys339Glu)
4g.664921A>TCA355919721PDE6Bc.2170A>T (p.Lys724Ter)
c.1333A>T (p.Lys445Ter)
n.540A>T
c.12A>T
c.250A>T (p.Lys84Ter)
c.2389A>T (p.Lys797Ter)
c.1375A>T (p.Lys459Ter)
c.1099A>T (p.Lys367Ter)
c.1015A>T (p.Lys339Ter)
4g.664922A>CCA355919727PDE6Bc.2171A>C (p.Lys724Thr)
c.1334A>C (p.Lys445Thr)
n.541A>C
c.13A>C
c.251A>C (p.Lys84Thr)
c.2390A>C (p.Lys797Thr)
c.1376A>C (p.Lys459Thr)
c.1100A>C (p.Lys367Thr)
c.1016A>C (p.Lys339Thr)
4g.664922A>GCA355919724PDE6Bc.2171A>G (p.Lys724Arg)
c.1334A>G (p.Lys445Arg)
n.541A>G
c.13A>G
c.251A>G (p.Lys84Arg)
c.2390A>G (p.Lys797Arg)
c.1376A>G (p.Lys459Arg)
c.1100A>G (p.Lys367Arg)
c.1016A>G (p.Lys339Arg)
4g.664922A>TCA355919725PDE6Bc.2171A>T (p.Lys724Met)
c.1334A>T (p.Lys445Met)
n.541A>T
c.13A>T
c.251A>T (p.Lys84Met)
c.2390A>T (p.Lys797Met)
c.1376A>T (p.Lys459Met)
c.1100A>T (p.Lys367Met)
c.1016A>T (p.Lys339Met)
4g.664923G>ACA2794917PDE6Bc.2172G>A (p.Lys724=)
c.1335G>A (p.Lys445=)
c.14G>A
c.252G>A (p.Lys84=)
c.2391G>A (p.Lys797=)
c.1377G>A (p.Lys459=)
c.1101G>A (p.Lys367=)
c.1017G>A (p.Lys339=)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.664923G>CCA355919730PDE6Bc.2172G>C (p.Lys724Asn)
c.1335G>C (p.Lys445Asn)
c.14G>C
c.252G>C (p.Lys84Asn)
c.2391G>C (p.Lys797Asn)
c.1377G>C (p.Lys459Asn)
c.1101G>C (p.Lys367Asn)
c.1017G>C (p.Lys339Asn)
 gnomAD v4
4g.664923G=CA1432854315PDE6Bc.2172G= (p.Lys724=)
c.1335G= (p.Lys445=)
c.14G=
c.252G= (p.Lys84=)
c.2391G= (p.Lys797=)
c.1377G= (p.Lys459=)
c.1101G= (p.Lys367=)
c.1017G= (p.Lys339=)
4g.664923G>TCA355919732PDE6Bc.2172G>T (p.Lys724Asn)
c.1335G>T (p.Lys445Asn)
c.14G>T
c.252G>T (p.Lys84Asn)
c.2391G>T (p.Lys797Asn)
c.1377G>T (p.Lys459Asn)
c.1101G>T (p.Lys367Asn)
c.1017G>T (p.Lys339Asn)
4g.664924C>ACA355919734PDE6Bc.2173C>A (p.Pro725Thr)
c.1336C>A (p.Pro446Thr)
c.15C>A
c.253C>A (p.Pro85Thr)
c.2392C>A (p.Pro798Thr)
c.1378C>A (p.Pro460Thr)
c.1102C>A (p.Pro368Thr)
c.1018C>A (p.Pro340Thr)
4g.664924C>GCA355919736PDE6Bc.2173C>G (p.Pro725Ala)
c.1336C>G (p.Pro446Ala)
c.15C>G
c.253C>G (p.Pro85Ala)
c.2392C>G (p.Pro798Ala)
c.1378C>G (p.Pro460Ala)
c.1102C>G (p.Pro368Ala)
c.1018C>G (p.Pro340Ala)
4g.664924C>TCA355919738PDE6Bc.2173C>T (p.Pro725Ser)
c.1336C>T (p.Pro446Ser)
c.15C>T
c.253C>T (p.Pro85Ser)
c.2392C>T (p.Pro798Ser)
c.1378C>T (p.Pro460Ser)
c.1102C>T (p.Pro368Ser)
c.1018C>T (p.Pro340Ser)
4g.664925C>ACA355919739PDE6Bc.2174C>A (p.Pro725His)
c.1337C>A (p.Pro446His)
c.16C>A
c.254C>A (p.Pro85His)
c.2393C>A (p.Pro798His)
c.1379C>A (p.Pro460His)
c.1103C>A (p.Pro368His)
c.1019C>A (p.Pro340His)
4g.664925C=CA1432854330PDE6Bc.2174C= (p.Pro725=)
c.1337C= (p.Pro446=)
c.16C=
c.254C= (p.Pro85=)
c.2393C= (p.Pro798=)
c.1379C= (p.Pro460=)
c.1103C= (p.Pro368=)
c.1019C= (p.Pro340=)
4g.664925C>GCA355919742PDE6Bc.2174C>G (p.Pro725Arg)
c.1337C>G (p.Pro446Arg)
c.16C>G
c.254C>G (p.Pro85Arg)
c.2393C>G (p.Pro798Arg)
c.1379C>G (p.Pro460Arg)
c.1103C>G (p.Pro368Arg)
c.1019C>G (p.Pro340Arg)
4g.664925C>TCA10621522PDE6Bc.2174C>T (p.Pro725Leu)
c.1337C>T (p.Pro446Leu)
c.16C>T
c.254C>T (p.Pro85Leu)
c.2393C>T (p.Pro798Leu)
c.1379C>T (p.Pro460Leu)
c.1103C>T (p.Pro368Leu)
c.1019C>T (p.Pro340Leu)
 ClinVar dbSNP gnomAD v4
4g.664926C>ACA437901059PDE6Bc.2175C>A (p.Pro725=)
c.1338C>A (p.Pro446=)
c.17C>A
c.255C>A (p.Pro85=)
c.2394C>A (p.Pro798=)
c.1380C>A (p.Pro460=)
c.1104C>A (p.Pro368=)
c.1020C>A (p.Pro340=)
4g.664926C>GCA437901060PDE6Bc.2175C>G (p.Pro725=)
c.1338C>G (p.Pro446=)
c.17C>G
c.255C>G (p.Pro85=)
c.2394C>G (p.Pro798=)
c.1380C>G (p.Pro460=)
c.1104C>G (p.Pro368=)
c.1020C>G (p.Pro340=)
4g.664926C>TCA437901061PDE6Bc.2175C>T (p.Pro725=)
c.1338C>T (p.Pro446=)
c.17C>T
c.255C>T (p.Pro85=)
c.2394C>T (p.Pro798=)
c.1380C>T (p.Pro460=)
c.1104C>T (p.Pro368=)
c.1020C>T (p.Pro340=)
4g.664927T>ACA355919745PDE6Bc.2176T>A (p.Trp726Arg)
c.1339T>A (p.Trp447Arg)
c.18T>A
c.256T>A (p.Trp86Arg)
c.2395T>A (p.Trp799Arg)
c.1381T>A (p.Trp461Arg)
c.1105T>A (p.Trp369Arg)
c.1021T>A (p.Trp341Arg)
4g.664927T>CCA355919747PDE6Bc.2176T>C (p.Trp726Arg)
c.1339T>C (p.Trp447Arg)
c.18T>C
c.256T>C (p.Trp86Arg)
c.2395T>C (p.Trp799Arg)
c.1381T>C (p.Trp461Arg)
c.1105T>C (p.Trp369Arg)
c.1021T>C (p.Trp341Arg)
4g.664927T>GCA355919749PDE6Bc.2176T>G (p.Trp726Gly)
c.1339T>G (p.Trp447Gly)
c.18T>G
c.256T>G (p.Trp86Gly)
c.2395T>G (p.Trp799Gly)
c.1381T>G (p.Trp461Gly)
c.1105T>G (p.Trp369Gly)
c.1021T>G (p.Trp341Gly)
4g.664928G>ACA355919751PDE6Bc.2177G>A (p.Trp726Ter)
c.1340G>A (p.Trp447Ter)
c.19G>A
c.257G>A (p.Trp86Ter)
c.2396G>A (p.Trp799Ter)
c.1382G>A (p.Trp461Ter)
c.1106G>A (p.Trp369Ter)
c.1022G>A (p.Trp341Ter)
4g.664928G>CCA355919754PDE6Bc.2177G>C (p.Trp726Ser)
c.1340G>C (p.Trp447Ser)
c.19G>C
c.257G>C (p.Trp86Ser)
c.2396G>C (p.Trp799Ser)
c.1382G>C (p.Trp461Ser)
c.1106G>C (p.Trp369Ser)
c.1022G>C (p.Trp341Ser)
4g.664928G>TCA355919753PDE6Bc.2177G>T (p.Trp726Leu)
c.1340G>T (p.Trp447Leu)
c.19G>T
c.257G>T (p.Trp86Leu)
c.2396G>T (p.Trp799Leu)
c.1382G>T (p.Trp461Leu)
c.1106G>T (p.Trp369Leu)
c.1022G>T (p.Trp341Leu)
4g.664930delCA2586973505PDE6Bc.2179del (p.Glu727LysfsTer?)
c.1342del (p.Glu448LysfsTer?)
c.21del
c.259del (p.Glu87LysfsTer?)
c.2398del (p.Glu800LysfsTer?)
c.1384del (p.Glu462LysfsTer?)
c.1108del (p.Glu370LysfsTer?)
c.1024del (p.Glu342LysfsTer?)
4g.664929G>ACA355919757PDE6Bc.2178G>A (p.Trp726Ter)
c.1341G>A (p.Trp447Ter)
c.20G>A
c.258G>A (p.Trp86Ter)
c.2397G>A (p.Trp799Ter)
c.1383G>A (p.Trp461Ter)
c.1107G>A (p.Trp369Ter)
c.1023G>A (p.Trp341Ter)
 dbSNP gnomAD v4 COSMIC
4g.664929G>CCA355919759PDE6Bc.2178G>C (p.Trp726Cys)
c.1341G>C (p.Trp447Cys)
c.20G>C
c.258G>C (p.Trp86Cys)
c.2397G>C (p.Trp799Cys)
c.1383G>C (p.Trp461Cys)
c.1107G>C (p.Trp369Cys)
c.1023G>C (p.Trp341Cys)
 dbSNP
4g.664929G=CA1432854336PDE6Bc.2178G= (p.Trp726=)
c.1341G= (p.Trp447=)
c.20G=
c.258G= (p.Trp86=)
c.2397G= (p.Trp799=)
c.1383G= (p.Trp461=)
c.1107G= (p.Trp369=)
c.1023G= (p.Trp341=)
4g.664929G>TCA355919758PDE6Bc.2178G>T (p.Trp726Cys)
c.1341G>T (p.Trp447Cys)
c.20G>T
c.258G>T (p.Trp86Cys)
c.2397G>T (p.Trp799Cys)
c.1383G>T (p.Trp461Cys)
c.1107G>T (p.Trp369Cys)
c.1023G>T (p.Trp341Cys)
4g.664930G>ACA355919760PDE6Bc.2179G>A (p.Glu727Lys)
c.1342G>A (p.Glu448Lys)
c.21G>A
c.259G>A (p.Glu87Lys)
c.2398G>A (p.Glu800Lys)
c.1384G>A (p.Glu462Lys)
c.1108G>A (p.Glu370Lys)
c.1024G>A (p.Glu342Lys)
 gnomAD v4
4g.664930G>CCA355919761PDE6Bc.2179G>C (p.Glu727Gln)
c.1342G>C (p.Glu448Gln)
c.21G>C
c.259G>C (p.Glu87Gln)
c.2398G>C (p.Glu800Gln)
c.1384G>C (p.Glu462Gln)
c.1108G>C (p.Glu370Gln)
c.1024G>C (p.Glu342Gln)
4g.664930G>TCA355919762PDE6Bc.2179G>T (p.Glu727Ter)
c.1342G>T (p.Glu448Ter)
c.21G>T
c.259G>T (p.Glu87Ter)
c.2398G>T (p.Glu800Ter)
c.1384G>T (p.Glu462Ter)
c.1108G>T (p.Glu370Ter)
c.1024G>T (p.Glu342Ter)
4g.664931A>CCA355919764PDE6Bc.2180A>C (p.Glu727Ala)
c.1343A>C (p.Glu448Ala)
c.22A>C
c.260A>C (p.Glu87Ala)
c.2399A>C (p.Glu800Ala)
c.1385A>C (p.Glu462Ala)
c.1109A>C (p.Glu370Ala)
c.1025A>C (p.Glu342Ala)
4g.664931A>GCA355919766PDE6Bc.2180A>G (p.Glu727Gly)
c.1343A>G (p.Glu448Gly)
c.22A>G
c.260A>G (p.Glu87Gly)
c.2399A>G (p.Glu800Gly)
c.1385A>G (p.Glu462Gly)
c.1109A>G (p.Glu370Gly)
c.1025A>G (p.Glu342Gly)
4g.664931A>TCA355919767PDE6Bc.2180A>T (p.Glu727Val)
c.1343A>T (p.Glu448Val)
c.22A>T
c.260A>T (p.Glu87Val)
c.2399A>T (p.Glu800Val)
c.1385A>T (p.Glu462Val)
c.1109A>T (p.Glu370Val)
c.1025A>T (p.Glu342Val)
4g.664932A>CCA355919769PDE6Bc.2181A>C (p.Glu727Asp)
c.1344A>C (p.Glu448Asp)
c.23A>C
c.261A>C (p.Glu87Asp)
c.2400A>C (p.Glu800Asp)
c.1386A>C (p.Glu462Asp)
c.1110A>C (p.Glu370Asp)
c.1026A>C (p.Glu342Asp)
4g.664932A>GCA437901070PDE6Bc.2181A>G (p.Glu727=)
c.1344A>G (p.Glu448=)
c.23A>G
c.261A>G (p.Glu87=)
c.2400A>G (p.Glu800=)
c.1386A>G (p.Glu462=)
c.1110A>G (p.Glu370=)
c.1026A>G (p.Glu342=)
 gnomAD v4
4g.664932A>TCA355919770PDE6Bc.2181A>T (p.Glu727Asp)
c.1344A>T (p.Glu448Asp)
c.23A>T
c.261A>T (p.Glu87Asp)
c.2400A>T (p.Glu800Asp)
c.1386A>T (p.Glu462Asp)
c.1110A>T (p.Glu370Asp)
c.1026A>T (p.Glu342Asp)
4g.664933G>ACA355919772PDE6Bc.2182G>A (p.Val728Ile)
c.1345G>A (p.Val449Ile)
c.24G>A
c.262G>A (p.Val88Ile)
c.2401G>A (p.Val801Ile)
c.1387G>A (p.Val463Ile)
c.1111G>A (p.Val371Ile)
c.1027G>A (p.Val343Ile)
4g.664933G>CCA355919773PDE6Bc.2182G>C (p.Val728Leu)
c.1345G>C (p.Val449Leu)
c.24G>C
c.262G>C (p.Val88Leu)
c.2401G>C (p.Val801Leu)
c.1387G>C (p.Val463Leu)
c.1111G>C (p.Val371Leu)
c.1027G>C (p.Val343Leu)
4g.664933G>TCA355919775PDE6Bc.2182G>T (p.Val728Phe)
c.1345G>T (p.Val449Phe)
c.24G>T
c.262G>T (p.Val88Phe)
c.2401G>T (p.Val801Phe)
c.1387G>T (p.Val463Phe)
c.1111G>T (p.Val371Phe)
c.1027G>T (p.Val343Phe)
4g.664934T>ACA355919781PDE6Bc.2183T>A (p.Val728Asp)
c.1346T>A (p.Val449Asp)
c.25T>A
c.263T>A (p.Val88Asp)
c.2402T>A (p.Val801Asp)
c.1388T>A (p.Val463Asp)
c.1112T>A (p.Val371Asp)
c.1028T>A (p.Val343Asp)
4g.664934T>CCA355919779PDE6Bc.2183T>C (p.Val728Ala)
c.1346T>C (p.Val449Ala)
c.25T>C
c.263T>C (p.Val88Ala)
c.2402T>C (p.Val801Ala)
c.1388T>C (p.Val463Ala)
c.1112T>C (p.Val371Ala)
c.1028T>C (p.Val343Ala)
4g.664934T>GCA355919777PDE6Bc.2183T>G (p.Val728Gly)
c.1346T>G (p.Val449Gly)
c.25T>G
c.263T>G (p.Val88Gly)
c.2402T>G (p.Val801Gly)
c.1388T>G (p.Val463Gly)
c.1112T>G (p.Val371Gly)
c.1028T>G (p.Val343Gly)
4g.664935C>ACA437901073PDE6Bc.2184C>A (p.Val728=)
c.1347C>A (p.Val449=)
c.26C>A
c.264C>A (p.Val88=)
c.2403C>A (p.Val801=)
c.1389C>A (p.Val463=)
c.1113C>A (p.Val371=)
c.1029C>A (p.Val343=)
4g.664935C=CA1432854341PDE6Bc.2184C= (p.Val728=)
c.1347C= (p.Val449=)
c.26C=
c.264C= (p.Val88=)
c.2403C= (p.Val801=)
c.1389C= (p.Val463=)
c.1113C= (p.Val371=)
c.1029C= (p.Val343=)
4g.664935C>GCA437901075PDE6Bc.2184C>G (p.Val728=)
c.1347C>G (p.Val449=)
c.26C>G
c.264C>G (p.Val88=)
c.2403C>G (p.Val801=)
c.1389C>G (p.Val463=)
c.1113C>G (p.Val371=)
c.1029C>G (p.Val343=)
4g.664935C>TCA2794918PDE6Bc.2184C>T (p.Val728=)
c.1347C>T (p.Val449=)
c.26C>T
c.264C>T (p.Val88=)
c.2403C>T (p.Val801=)
c.1389C>T (p.Val463=)
c.1113C>T (p.Val371=)
c.1029C>T (p.Val343=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.664936delCA2578009835PDE6Bc.2185del (p.Gln729ArgfsTer30)
c.1348del (p.Gln450ArgfsTer30)
c.27del
c.265del (p.Gln89ArgfsTer30)
c.2404del (p.Gln802ArgfsTer30)
c.1390del (p.Gln464ArgfsTer30)
c.1114del (p.Gln372ArgfsTer30)
c.1030del (p.Gln344ArgfsTer30)
4g.664936C>ACA355919783PDE6Bc.2185C>A (p.Gln729Lys)
c.1348C>A (p.Gln450Lys)
c.27C>A
c.265C>A (p.Gln89Lys)
c.2404C>A (p.Gln802Lys)
c.1390C>A (p.Gln464Lys)
c.1114C>A (p.Gln372Lys)
c.1030C>A (p.Gln344Lys)
4g.664936C>GCA355919785PDE6Bc.2185C>G (p.Gln729Glu)
c.1348C>G (p.Gln450Glu)
c.27C>G
c.265C>G (p.Gln89Glu)
c.2404C>G (p.Gln802Glu)
c.1390C>G (p.Gln464Glu)
c.1114C>G (p.Gln372Glu)
c.1030C>G (p.Gln344Glu)
4g.664936C>TCA355919787PDE6Bc.2185C>T (p.Gln729Ter)
c.1348C>T (p.Gln450Ter)
c.27C>T
c.265C>T (p.Gln89Ter)
c.2404C>T (p.Gln802Ter)
c.1390C>T (p.Gln464Ter)
c.1114C>T (p.Gln372Ter)
c.1030C>T (p.Gln344Ter)
 gnomAD v4
4g.664937A=CA1432854344PDE6Bc.2186A= (p.Gln729=)
c.1349A= (p.Gln450=)
c.28A=
c.266A= (p.Gln89=)
c.2405A= (p.Gln802=)
c.1391A= (p.Gln464=)
c.1115A= (p.Gln372=)
c.1031A= (p.Gln344=)
4g.664937A>CCA355919789PDE6Bc.2186A>C (p.Gln729Pro)
c.1349A>C (p.Gln450Pro)
c.28A>C
c.266A>C (p.Gln89Pro)
c.2405A>C (p.Gln802Pro)
c.1391A>C (p.Gln464Pro)
c.1115A>C (p.Gln372Pro)
c.1031A>C (p.Gln344Pro)
 ClinVar
4g.664937A>GCA355919790PDE6Bc.2186A>G (p.Gln729Arg)
c.1349A>G (p.Gln450Arg)
c.28A>G
c.266A>G (p.Gln89Arg)
c.2405A>G (p.Gln802Arg)
c.1391A>G (p.Gln464Arg)
c.1115A>G (p.Gln372Arg)
c.1031A>G (p.Gln344Arg)
 dbSNP gnomAD v3 gnomAD v4
4g.664937A>TCA355919792PDE6Bc.2186A>T (p.Gln729Leu)
c.1349A>T (p.Gln450Leu)
c.28A>T
c.266A>T (p.Gln89Leu)
c.2405A>T (p.Gln802Leu)
c.1391A>T (p.Gln464Leu)
c.1115A>T (p.Gln372Leu)
c.1031A>T (p.Gln344Leu)
4g.664938G>ACA437901078PDE6Bc.2187G>A (p.Gln729=)
c.1350G>A (p.Gln450=)
c.29G>A
c.267G>A (p.Gln89=)
c.2406G>A (p.Gln802=)
c.1392G>A (p.Gln464=)
c.1116G>A (p.Gln372=)
c.1032G>A (p.Gln344=)
4g.664938G>CCA355919795PDE6Bc.2187G>C (p.Gln729His)
c.1350G>C (p.Gln450His)
c.29G>C
c.267G>C (p.Gln89His)
c.2406G>C (p.Gln802His)
c.1392G>C (p.Gln464His)
c.1116G>C (p.Gln372His)
c.1032G>C (p.Gln344His)
4g.664938G>TCA355919796PDE6Bc.2187G>T (p.Gln729His)
c.1350G>T (p.Gln450His)
c.29G>T
c.267G>T (p.Gln89His)
c.2406G>T (p.Gln802His)
c.1392G>T (p.Gln464His)
c.1116G>T (p.Gln372His)
c.1032G>T (p.Gln344His)
4g.664939A>CCA355919798PDE6Bc.2188A>C (p.Ser730Arg)
c.1351A>C (p.Ser451Arg)
c.30A>C
c.268A>C (p.Ser90Arg)
c.2407A>C (p.Ser803Arg)
c.1393A>C (p.Ser465Arg)
c.1117A>C (p.Ser373Arg)
c.1033A>C (p.Ser345Arg)
4g.664939A>GCA355919799PDE6Bc.2188A>G (p.Ser730Gly)
c.1351A>G (p.Ser451Gly)
c.30A>G
c.268A>G (p.Ser90Gly)
c.2407A>G (p.Ser803Gly)
c.1393A>G (p.Ser465Gly)
c.1117A>G (p.Ser373Gly)
c.1033A>G (p.Ser345Gly)
4g.664939A>TCA355919800PDE6Bc.2188A>T (p.Ser730Cys)
c.1351A>T (p.Ser451Cys)
c.30A>T
c.268A>T (p.Ser90Cys)
c.2407A>T (p.Ser803Cys)
c.1393A>T (p.Ser465Cys)
c.1117A>T (p.Ser373Cys)
c.1033A>T (p.Ser345Cys)
4g.664940G>ACA355919806PDE6Bc.2189G>A (p.Ser730Asn)
c.1352G>A (p.Ser451Asn)
c.31G>A
c.269G>A (p.Ser90Asn)
c.2408G>A (p.Ser803Asn)
c.1394G>A (p.Ser465Asn)
c.1118G>A (p.Ser373Asn)
c.1034G>A (p.Ser345Asn)
 ClinVar
4g.664940G>CCA355919805PDE6Bc.2189G>C (p.Ser730Thr)
c.1352G>C (p.Ser451Thr)
c.31G>C
c.269G>C (p.Ser90Thr)
c.2408G>C (p.Ser803Thr)
c.1394G>C (p.Ser465Thr)
c.1118G>C (p.Ser373Thr)
c.1034G>C (p.Ser345Thr)
4g.664940G>TCA355919803PDE6Bc.2189G>T (p.Ser730Ile)
c.1352G>T (p.Ser451Ile)
c.31G>T
c.269G>T (p.Ser90Ile)
c.2408G>T (p.Ser803Ile)
c.1394G>T (p.Ser465Ile)
c.1118G>T (p.Ser373Ile)
c.1034G>T (p.Ser345Ile)
4g.664941C>ACA355919808PDE6Bc.2190C>A (p.Ser730Arg)
c.1353C>A (p.Ser451Arg)
c.32C>A
c.270C>A (p.Ser90Arg)
c.2409C>A (p.Ser803Arg)
c.1395C>A (p.Ser465Arg)
c.1119C>A (p.Ser373Arg)
c.1035C>A (p.Ser345Arg)
4g.664941C>GCA355919810PDE6Bc.2190C>G (p.Ser730Arg)
c.1353C>G (p.Ser451Arg)
c.32C>G
c.270C>G (p.Ser90Arg)
c.2409C>G (p.Ser803Arg)
c.1395C>G (p.Ser465Arg)
c.1119C>G (p.Ser373Arg)
c.1035C>G (p.Ser345Arg)
 gnomAD v4
4g.664941C>TCA437901080PDE6Bc.2190C>T (p.Ser730=)
c.1353C>T (p.Ser451=)
c.32C>T
c.270C>T (p.Ser90=)
c.2409C>T (p.Ser803=)
c.1395C>T (p.Ser465=)
c.1119C>T (p.Ser373=)
c.1035C>T (p.Ser345=)
4g.664942A=CA1432854347PDE6Bc.2191A= (p.Lys731=)
c.1354A= (p.Lys452=)
c.33A=
c.271A= (p.Lys91=)
c.2410A= (p.Lys804=)
c.1396A= (p.Lys466=)
c.1120A= (p.Lys374=)
c.1036A= (p.Lys346=)
4g.664942A>CCA355919812PDE6Bc.2191A>C (p.Lys731Gln)
c.1354A>C (p.Lys452Gln)
c.33A>C
c.271A>C (p.Lys91Gln)
c.2410A>C (p.Lys804Gln)
c.1396A>C (p.Lys466Gln)
c.1120A>C (p.Lys374Gln)
c.1036A>C (p.Lys346Gln)
 dbSNP
4g.664942A>GCA355919813PDE6Bc.2191A>G (p.Lys731Glu)
c.1354A>G (p.Lys452Glu)
c.33A>G
c.271A>G (p.Lys91Glu)
c.2410A>G (p.Lys804Glu)
c.1396A>G (p.Lys466Glu)
c.1120A>G (p.Lys374Glu)
c.1036A>G (p.Lys346Glu)
 ClinVar
4g.664942A>TCA355919815PDE6Bc.2191A>T (p.Lys731Ter)
c.1354A>T (p.Lys452Ter)
c.33A>T
c.271A>T (p.Lys91Ter)
c.2410A>T (p.Lys804Ter)
c.1396A>T (p.Lys466Ter)
c.1120A>T (p.Lys374Ter)
c.1036A>T (p.Lys346Ter)
4g.664943A>CCA355919818PDE6Bc.2192A>C (p.Lys731Thr)
c.1355A>C (p.Lys452Thr)
c.34A>C
c.272A>C (p.Lys91Thr)
c.2411A>C (p.Lys804Thr)
c.1397A>C (p.Lys466Thr)
c.1121A>C (p.Lys374Thr)
c.1037A>C (p.Lys346Thr)
4g.664943A>GCA355919819PDE6Bc.2192A>G (p.Lys731Arg)
c.1355A>G (p.Lys452Arg)
c.34A>G
c.272A>G (p.Lys91Arg)
c.2411A>G (p.Lys804Arg)
c.1397A>G (p.Lys466Arg)
c.1121A>G (p.Lys374Arg)
c.1037A>G (p.Lys346Arg)
4g.664943A>TCA355919821PDE6Bc.2192A>T (p.Lys731Met)
c.1355A>T (p.Lys452Met)
c.34A>T
c.272A>T (p.Lys91Met)
c.2411A>T (p.Lys804Met)
c.1397A>T (p.Lys466Met)
c.1121A>T (p.Lys374Met)
c.1037A>T (p.Lys346Met)
4g.664944G>ACA437901084PDE6Bc.2193G>A (p.Lys731=)
c.1356G>A (p.Lys452=)
c.35G>A
c.273G>A (p.Lys91=)
c.2412G>A (p.Lys804=)
c.1398G>A (p.Lys466=)
c.1122G>A (p.Lys374=)
c.1038G>A (p.Lys346=)
 ClinVar dbSNP gnomAD v4
4g.664944G>CCA355919823PDE6Bc.2193G>C (p.Lys731Asn)
c.1356G>C (p.Lys452Asn)
c.35G>C
c.273G>C (p.Lys91Asn)
c.2412G>C (p.Lys804Asn)
c.1398G>C (p.Lys466Asn)
c.1122G>C (p.Lys374Asn)
c.1038G>C (p.Lys346Asn)
 gnomAD v4
4g.664944G=CA1432854350PDE6Bc.2193G= (p.Lys731=)
c.1356G= (p.Lys452=)
c.35G=
c.273G= (p.Lys91=)
c.2412G= (p.Lys804=)
c.1398G= (p.Lys466=)
c.1122G= (p.Lys374=)
c.1038G= (p.Lys346=)
4g.664944G>TCA355919825PDE6Bc.2193G>T (p.Lys731Asn)
c.1356G>T (p.Lys452Asn)
c.35G>T
c.273G>T (p.Lys91Asn)
c.2412G>T (p.Lys804Asn)
c.1398G>T (p.Lys466Asn)
c.1122G>T (p.Lys374Asn)
c.1038G>T (p.Lys346Asn)
4g.664945delCA2586973506PDE6Bc.2193+1del
c.1356+1del
c.35+1del
c.273+1del
c.2412+1del
c.1398+1del
c.1122+1del
c.1038+1del
4g.664945G>ACA273358PDE6Bc.2193+1G>A (n.2193+1G>A)
c.1356+1G>A (n.1356+1G>A)
c.35+1G>A
c.273+1G>A (n.273+1G>A)
c.2412+1G>A (n.2412+1G>A)
c.1398+1G>A (n.1398+1G>A)
c.1122+1G>A (n.1122+1G>A)
c.1038+1G>A (n.1038+1G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.664945G>CCA355919828PDE6Bc.2193+1G>C (n.2193+1G>C)
c.1356+1G>C (n.1356+1G>C)
c.35+1G>C
c.273+1G>C (n.273+1G>C)
c.2412+1G>C (n.2412+1G>C)
c.1398+1G>C (n.1398+1G>C)
c.1122+1G>C (n.1122+1G>C)
c.1038+1G>C (n.1038+1G>C)
4g.664945G=CA1432854358PDE6Bc.2193+1G= (n.2193+1G=)
c.1356+1G= (n.1356+1G=)
c.35+1G=
c.273+1G= (n.273+1G=)
c.2412+1G= (n.2412+1G=)
c.1398+1G= (n.1398+1G=)
c.1122+1G= (n.1122+1G=)
c.1038+1G= (n.1038+1G=)
4g.664945G>TCA355919830PDE6Bc.2193+1G>T (n.2193+1G>T)
c.1356+1G>T (n.1356+1G>T)
c.35+1G>T
c.273+1G>T (n.273+1G>T)
c.2412+1G>T (n.2412+1G>T)
c.1398+1G>T (n.1398+1G>T)
c.1122+1G>T (n.1122+1G>T)
c.1038+1G>T (n.1038+1G>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.664946T>ACA355919835PDE6Bc.2193+2T>A (n.2193+2T>A)
c.1356+2T>A (n.1356+2T>A)
c.35+2T>A
c.273+2T>A (n.273+2T>A)
c.2412+2T>A (n.2412+2T>A)
c.1398+2T>A (n.1398+2T>A)
c.1122+2T>A (n.1122+2T>A)
c.1038+2T>A (n.1038+2T>A)
4g.664946T>CCA355919832PDE6Bc.2193+2T>C (n.2193+2T>C)
c.1356+2T>C (n.1356+2T>C)
c.35+2T>C
c.273+2T>C (n.273+2T>C)
c.2412+2T>C (n.2412+2T>C)
c.1398+2T>C (n.1398+2T>C)
c.1122+2T>C (n.1122+2T>C)
c.1038+2T>C (n.1038+2T>C)
4g.664946T>GCA2794919PDE6Bc.2193+2T>G (n.2193+2T>G)
c.1356+2T>G (n.1356+2T>G)
c.35+2T>G
c.273+2T>G (n.273+2T>G)
c.2412+2T>G (n.2412+2T>G)
c.1398+2T>G (n.1398+2T>G)
c.1122+2T>G (n.1122+2T>G)
c.1038+2T>G (n.1038+2T>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.664946T=CA1432854366PDE6Bc.2193+2T= (n.2193+2T=)
c.1356+2T= (n.1356+2T=)
c.35+2T=
c.273+2T= (n.273+2T=)
c.2412+2T= (n.2412+2T=)
c.1398+2T= (n.1398+2T=)
c.1122+2T= (n.1122+2T=)
c.1038+2T= (n.1038+2T=)
4g.664947T>CCA1058414659PDE6Bc.2193+3T>C (n.2193+3T>C)
c.1356+3T>C (n.1356+3T>C)
c.35+3T>C
c.273+3T>C (n.273+3T>C)
c.2412+3T>C (n.2412+3T>C)
c.1398+3T>C (n.1398+3T>C)
c.1122+3T>C (n.1122+3T>C)
c.1038+3T>C (n.1038+3T>C)
 dbSNP gnomAD v3 gnomAD v4
4g.664947T=CA1432854370PDE6Bc.2193+3T= (n.2193+3T=)
c.1356+3T= (n.1356+3T=)
c.35+3T=
c.273+3T= (n.273+3T=)
c.2412+3T= (n.2412+3T=)
c.1398+3T= (n.1398+3T=)
c.1122+3T= (n.1122+3T=)
c.1038+3T= (n.1038+3T=)
4g.664948A>GCA2669420265PDE6Bc.2193+4A>G (n.2193+4A>G)
c.1356+4A>G (n.1356+4A>G)
c.35+4A>G
c.273+4A>G (n.273+4A>G)
c.2412+4A>G (n.2412+4A>G)
c.1398+4A>G (n.1398+4A>G)
c.1122+4A>G (n.1122+4A>G)
c.1038+4A>G (n.1038+4A>G)
 gnomAD v4
4g.664949G>ACA2794920PDE6Bc.2193+5G>A (n.2193+5G>A)
c.1356+5G>A (n.1356+5G>A)
c.35+5G>A
c.273+5G>A (n.273+5G>A)
c.2412+5G>A (n.2412+5G>A)
c.1398+5G>A (n.1398+5G>A)
c.1122+5G>A (n.1122+5G>A)
c.1038+5G>A (n.1038+5G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.664949G>CCA797562176PDE6Bc.2193+5G>C (n.2193+5G>C)
c.1356+5G>C (n.1356+5G>C)
c.35+5G>C
c.273+5G>C (n.273+5G>C)
c.2412+5G>C (n.2412+5G>C)
c.1398+5G>C (n.1398+5G>C)
c.1122+5G>C (n.1122+5G>C)
c.1038+5G>C (n.1038+5G>C)
 dbSNP gnomAD v3 gnomAD v4
4g.664949G=CA1432854375PDE6Bc.2193+5G= (n.2193+5G=)
c.1356+5G= (n.1356+5G=)
c.35+5G=
c.273+5G= (n.273+5G=)
c.2412+5G= (n.2412+5G=)
c.1398+5G= (n.1398+5G=)
c.1122+5G= (n.1122+5G=)
c.1038+5G= (n.1038+5G=)
4g.664950A>CCA2568969910PDE6Bc.2193+6A>C (n.2193+6A>C)
c.1356+6A>C (n.1356+6A>C)
c.35+6A>C
c.273+6A>C (n.273+6A>C)
c.2412+6A>C (n.2412+6A>C)
c.1398+6A>C (n.1398+6A>C)
c.1122+6A>C (n.1122+6A>C)
c.1038+6A>C (n.1038+6A>C)
4g.664952C>ACA2669420266PDE6Bc.2193+8C>A (n.2193+8C>A)
c.1356+8C>A (n.1356+8C>A)
c.35+8C>A
c.273+8C>A (n.273+8C>A)
c.2412+8C>A (n.2412+8C>A)
c.1398+8C>A (n.1398+8C>A)
c.1122+8C>A (n.1122+8C>A)
c.1038+8C>A (n.1038+8C>A)
 gnomAD v4
4g.664952C=CA1432854380PDE6Bc.2193+8C= (n.2193+8C=)
c.1356+8C= (n.1356+8C=)
c.35+8C=
c.273+8C= (n.273+8C=)
c.2412+8C= (n.2412+8C=)
c.1398+8C= (n.1398+8C=)
c.1122+8C= (n.1122+8C=)
c.1038+8C= (n.1038+8C=)
4g.664952C>GCA2794921PDE6Bc.2193+8C>G (n.2193+8C>G)
c.1356+8C>G (n.1356+8C>G)
c.35+8C>G
c.273+8C>G (n.273+8C>G)
c.2412+8C>G (n.2412+8C>G)
c.1398+8C>G (n.1398+8C>G)
c.1122+8C>G (n.1122+8C>G)
c.1038+8C>G (n.1038+8C>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.664952C>TCA549126644PDE6Bc.2193+8C>T (n.2193+8C>T)
c.1356+8C>T (n.1356+8C>T)
c.35+8C>T
c.273+8C>T (n.273+8C>T)
c.2412+8C>T (n.2412+8C>T)
c.1398+8C>T (n.1398+8C>T)
c.1122+8C>T (n.1122+8C>T)
c.1038+8C>T (n.1038+8C>T)
 dbSNP gnomAD v2 gnomAD v4
4g.664955_664956delinsAGCA1432854386PDE6Bc.2193+11_2193+12delinsAG (n.2193+11_2193+12delinsAG)
c.1356+11_1356+12delinsAG (n.1356+11_1356+12delinsAG)
c.35+11_35+12delinsAG
c.273+11_273+12delinsAG (n.273+11_273+12delinsAG)
c.2412+11_2412+12delinsAG (n.2412+11_2412+12delinsAG)
c.1398+11_1398+12delinsAG (n.1398+11_1398+12delinsAG)
c.1122+11_1122+12delinsAG (n.1122+11_1122+12delinsAG)
c.1038+11_1038+12delinsAG (n.1038+11_1038+12delinsAG)
4g.664956G>ACA549126646PDE6Bc.2193+12G>A (n.2193+12G>A)
c.1356+12G>A (n.1356+12G>A)
c.35+12G>A
c.273+12G>A (n.273+12G>A)
c.2412+12G>A (n.2412+12G>A)
c.1398+12G>A (n.1398+12G>A)
c.1122+12G>A (n.1122+12G>A)
c.1038+12G>A (n.1038+12G>A)
 dbSNP gnomAD v2 gnomAD v4
4g.664956G=CA1432854388PDE6Bc.2193+12G= (n.2193+12G=)
c.1356+12G= (n.1356+12G=)
c.35+12G=
c.273+12G= (n.273+12G=)
c.2412+12G= (n.2412+12G=)
c.1398+12G= (n.1398+12G=)
c.1122+12G= (n.1122+12G=)
c.1038+12G= (n.1038+12G=)
4g.664958delCA2794922PDE6Bc.2193+14del (n.2193+14del)
c.1356+14del (n.1356+14del)
c.35+14del
c.273+14del (n.273+14del)
c.2412+14del (n.2412+14del)
c.1398+14del (n.1398+14del)
c.1122+14del (n.1122+14del)
c.1038+14del (n.1038+14del)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.664957G>ACA91092654PDE6Bc.2193+13G>A (n.2193+13G>A)
c.1356+13G>A (n.1356+13G>A)
c.35+13G>A
c.273+13G>A (n.273+13G>A)
c.2412+13G>A (n.2412+13G>A)
c.1398+13G>A (n.1398+13G>A)
c.1122+13G>A (n.1122+13G>A)
c.1038+13G>A (n.1038+13G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.664957G=CA1432854393PDE6Bc.2193+13G= (n.2193+13G=)
c.1356+13G= (n.1356+13G=)
c.35+13G=
c.273+13G= (n.273+13G=)
c.2412+13G= (n.2412+13G=)
c.1398+13G= (n.1398+13G=)
c.1122+13G= (n.1122+13G=)
c.1038+13G= (n.1038+13G=)
4g.664958G>ACA2794923PDE6Bc.2193+14G>A (n.2193+14G>A)
c.1356+14G>A (n.1356+14G>A)
c.35+14G>A
c.273+14G>A (n.273+14G>A)
c.2412+14G>A (n.2412+14G>A)
c.1398+14G>A (n.1398+14G>A)
c.1122+14G>A (n.1122+14G>A)
c.1038+14G>A (n.1038+14G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.664958G=CA1432854397PDE6Bc.2193+14G= (n.2193+14G=)
c.1356+14G= (n.1356+14G=)
c.35+14G=
c.273+14G= (n.273+14G=)
c.2412+14G= (n.2412+14G=)
c.1398+14G= (n.1398+14G=)
c.1122+14G= (n.1122+14G=)
c.1038+14G= (n.1038+14G=)
4g.664958G>TCA549126650PDE6Bc.2193+14G>T (n.2193+14G>T)
c.1356+14G>T (n.1356+14G>T)
c.35+14G>T
c.273+14G>T (n.273+14G>T)
c.2412+14G>T (n.2412+14G>T)
c.1398+14G>T (n.1398+14G>T)
c.1122+14G>T (n.1122+14G>T)
c.1038+14G>T (n.1038+14G>T)
 dbSNP gnomAD v2 gnomAD v4
4g.664959C>ACA2669420277PDE6Bc.2193+15C>A (n.2193+15C>A)
c.1356+15C>A (n.1356+15C>A)
c.35+15C>A
c.273+15C>A (n.273+15C>A)
c.2412+15C>A (n.2412+15C>A)
c.1398+15C>A (n.1398+15C>A)
c.1122+15C>A (n.1122+15C>A)
c.1038+15C>A (n.1038+15C>A)
 gnomAD v4
4g.664959C=CA1432854403PDE6Bc.2193+15C= (n.2193+15C=)
c.1356+15C= (n.1356+15C=)
c.35+15C=
c.273+15C= (n.273+15C=)
c.2412+15C= (n.2412+15C=)
c.1398+15C= (n.1398+15C=)
c.1122+15C= (n.1122+15C=)
c.1038+15C= (n.1038+15C=)
4g.664959C>GCA2794925PDE6Bc.2193+15C>G (n.2193+15C>G)
c.1356+15C>G (n.1356+15C>G)
c.35+15C>G
c.273+15C>G (n.273+15C>G)
c.2412+15C>G (n.2412+15C>G)
c.1398+15C>G (n.1398+15C>G)
c.1122+15C>G (n.1122+15C>G)
c.1038+15C>G (n.1038+15C>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.664959C>TCA2794924PDE6Bc.2193+15C>T (n.2193+15C>T)
c.1356+15C>T (n.1356+15C>T)
c.35+15C>T
c.273+15C>T (n.273+15C>T)
c.2412+15C>T (n.2412+15C>T)
c.1398+15C>T (n.1398+15C>T)
c.1122+15C>T (n.1122+15C>T)
c.1038+15C>T (n.1038+15C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.664960C>ACA2794926PDE6Bc.2193+16C>A (n.2193+16C>A)
c.1356+16C>A (n.1356+16C>A)
c.35+16C>A
c.273+16C>A (n.273+16C>A)
c.2412+16C>A (n.2412+16C>A)
c.1398+16C>A (n.1398+16C>A)
c.1122+16C>A (n.1122+16C>A)
c.1038+16C>A (n.1038+16C>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.664960C=CA1432854414PDE6Bc.2193+16C= (n.2193+16C=)
c.1356+16C= (n.1356+16C=)
c.35+16C=
c.273+16C= (n.273+16C=)
c.2412+16C= (n.2412+16C=)
c.1398+16C= (n.1398+16C=)
c.1122+16C= (n.1122+16C=)
c.1038+16C= (n.1038+16C=)
4g.664961C>ACA2669420282PDE6Bc.2193+17C>A (n.2193+17C>A)
c.1356+17C>A (n.1356+17C>A)
c.35+17C>A
c.273+17C>A (n.273+17C>A)
c.2412+17C>A (n.2412+17C>A)
c.1398+17C>A (n.1398+17C>A)
c.1122+17C>A (n.1122+17C>A)
c.1038+17C>A (n.1038+17C>A)
 gnomAD v4
4g.664962T>CCA549126656PDE6Bc.2193+18T>C (n.2193+18T>C)
c.1356+18T>C (n.1356+18T>C)
c.35+18T>C
c.273+18T>C (n.273+18T>C)
c.2412+18T>C (n.2412+18T>C)
c.1398+18T>C (n.1398+18T>C)
c.1122+18T>C (n.1122+18T>C)
c.1038+18T>C (n.1038+18T>C)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.664962T=CA1432854418PDE6Bc.2193+18T= (n.2193+18T=)
c.1356+18T= (n.1356+18T=)
c.35+18T=
c.273+18T= (n.273+18T=)
c.2412+18T= (n.2412+18T=)
c.1398+18T= (n.1398+18T=)
c.1122+18T= (n.1122+18T=)
c.1038+18T= (n.1038+18T=)
4g.664963C=CA1432854422PDE6Bc.2193+19C= (n.2193+19C=)
c.1356+19C= (n.1356+19C=)
c.35+19C=
c.273+19C= (n.273+19C=)
c.2412+19C= (n.2412+19C=)
c.1398+19C= (n.1398+19C=)
c.1122+19C= (n.1122+19C=)
c.1038+19C= (n.1038+19C=)
4g.664963C>GCA1432854421PDE6Bc.2193+19C>G (n.2193+19C>G)
c.1356+19C>G (n.1356+19C>G)
c.35+19C>G
c.273+19C>G (n.273+19C>G)
c.2412+19C>G (n.2412+19C>G)
c.1398+19C>G (n.1398+19C>G)
c.1122+19C>G (n.1122+19C>G)
c.1038+19C>G (n.1038+19C>G)
 dbSNP gnomAD v4
4g.664964delCA2669420284PDE6Bc.2193+20del (n.2193+20del)
c.1356+20del (n.1356+20del)
c.35+20del
c.273+20del (n.273+20del)
c.2412+20del (n.2412+20del)
c.1398+20del (n.1398+20del)
c.1122+20del (n.1122+20del)
c.1038+20del (n.1038+20del)
 gnomAD v4
4g.664964C>ACA2669420285PDE6Bc.2193+20C>A (n.2193+20C>A)
c.1356+20C>A (n.1356+20C>A)
c.35+20C>A
c.273+20C>A (n.273+20C>A)
c.2412+20C>A (n.2412+20C>A)
c.1398+20C>A (n.1398+20C>A)
c.1122+20C>A (n.1122+20C>A)
c.1038+20C>A (n.1038+20C>A)
 gnomAD v4
4g.664965A>CCA2578009847PDE6Bc.2193+21A>C (n.2193+21A>C)
c.1356+21A>C (n.1356+21A>C)
c.35+21A>C
c.273+21A>C (n.273+21A>C)
c.2412+21A>C (n.2412+21A>C)
c.1398+21A>C (n.1398+21A>C)
c.1122+21A>C (n.1122+21A>C)
c.1038+21A>C (n.1038+21A>C)
4g.664966G>ACA91092659PDE6Bc.2193+22G>A (n.2193+22G>A)
c.1356+22G>A (n.1356+22G>A)
c.35+22G>A
c.273+22G>A (n.273+22G>A)
c.2412+22G>A (n.2412+22G>A)
c.1398+22G>A (n.1398+22G>A)
c.1122+22G>A (n.1122+22G>A)
c.1038+22G>A (n.1038+22G>A)
 dbSNP gnomAD v3 gnomAD v4
4g.664966G>CCA2794927PDE6Bc.2193+22G>C (n.2193+22G>C)
c.1356+22G>C (n.1356+22G>C)
c.35+22G>C
c.273+22G>C (n.273+22G>C)
c.2412+22G>C (n.2412+22G>C)
c.1398+22G>C (n.1398+22G>C)
c.1122+22G>C (n.1122+22G>C)
c.1038+22G>C (n.1038+22G>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.664966G=CA1432854431PDE6Bc.2193+22G= (n.2193+22G=)
c.1356+22G= (n.1356+22G=)
c.35+22G=
c.273+22G= (n.273+22G=)
c.2412+22G= (n.2412+22G=)
c.1398+22G= (n.1398+22G=)
c.1122+22G= (n.1122+22G=)
c.1038+22G= (n.1038+22G=)
4g.664966G>TCA2669420286PDE6Bc.2193+22G>T (n.2193+22G>T)
c.1356+22G>T (n.1356+22G>T)
c.35+22G>T
c.273+22G>T (n.273+22G>T)
c.2412+22G>T (n.2412+22G>T)
c.1398+22G>T (n.1398+22G>T)
c.1122+22G>T (n.1122+22G>T)
c.1038+22G>T (n.1038+22G>T)
 gnomAD v4
4g.664967A=CA1432854435PDE6Bc.2193+23A= (n.2193+23A=)
c.1356+23A= (n.1356+23A=)
c.35+23A=
c.273+23A= (n.273+23A=)
c.2412+23A= (n.2412+23A=)
c.1398+23A= (n.1398+23A=)
c.1122+23A= (n.1122+23A=)
c.1038+23A= (n.1038+23A=)
4g.664967A>GCA2794928PDE6Bc.2193+23A>G (n.2193+23A>G)
c.1356+23A>G (n.1356+23A>G)
c.35+23A>G
c.273+23A>G (n.273+23A>G)
c.2412+23A>G (n.2412+23A>G)
c.1398+23A>G (n.1398+23A>G)
c.1122+23A>G (n.1122+23A>G)
c.1038+23A>G (n.1038+23A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.664968C>ACA2669420288PDE6Bc.2193+24C>A (n.2193+24C>A)
c.1356+24C>A (n.1356+24C>A)
c.35+24C>A
c.273+24C>A (n.273+24C>A)
c.2412+24C>A (n.2412+24C>A)
c.1398+24C>A (n.1398+24C>A)
c.1122+24C>A (n.1122+24C>A)
c.1038+24C>A (n.1038+24C>A)
 gnomAD v4
4g.664968C=CA1432854440PDE6Bc.2193+24C= (n.2193+24C=)
c.1356+24C= (n.1356+24C=)
c.35+24C=
c.273+24C= (n.273+24C=)
c.2412+24C= (n.2412+24C=)
c.1398+24C= (n.1398+24C=)
c.1122+24C= (n.1122+24C=)
c.1038+24C= (n.1038+24C=)
4g.664968C>GCA1432854442PDE6Bc.2193+24C>G (n.2193+24C>G)
c.1356+24C>G (n.1356+24C>G)
c.35+24C>G
c.273+24C>G (n.273+24C>G)
c.2412+24C>G (n.2412+24C>G)
c.1398+24C>G (n.1398+24C>G)
c.1122+24C>G (n.1122+24C>G)
c.1038+24C>G (n.1038+24C>G)
 dbSNP
4g.664968C>TCA549126657PDE6Bc.2193+24C>T (n.2193+24C>T)
c.1356+24C>T (n.1356+24C>T)
c.35+24C>T
c.273+24C>T (n.273+24C>T)
c.2412+24C>T (n.2412+24C>T)
c.1398+24C>T (n.1398+24C>T)
c.1122+24C>T (n.1122+24C>T)
c.1038+24C>T (n.1038+24C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.664970delCA2578009849PDE6Bc.2193+26del (n.2193+26del)
c.1356+26del (n.1356+26del)
c.35+26del
c.273+26del (n.273+26del)
c.2412+26del (n.2412+26del)
c.1398+26del (n.1398+26del)
c.1122+26del (n.1122+26del)
c.1038+26del (n.1038+26del)
 gnomAD v4
4g.664969C>ACA2578009851PDE6Bc.2193+25C>A (n.2193+25C>A)
c.1356+25C>A (n.1356+25C>A)
c.35+25C>A
c.273+25C>A (n.273+25C>A)
c.2412+25C>A (n.2412+25C>A)
c.1398+25C>A (n.1398+25C>A)
c.1122+25C>A (n.1122+25C>A)
c.1038+25C>A (n.1038+25C>A)
 gnomAD v4
4g.664969C>GCA2669420293PDE6Bc.2193+25C>G (n.2193+25C>G)
c.1356+25C>G (n.1356+25C>G)
c.35+25C>G
c.273+25C>G (n.273+25C>G)
c.2412+25C>G (n.2412+25C>G)
c.1398+25C>G (n.1398+25C>G)
c.1122+25C>G (n.1122+25C>G)
c.1038+25C>G (n.1038+25C>G)
 gnomAD v4
4g.664969C>TCA2578009852PDE6Bc.2193+25C>T (n.2193+25C>T)
c.1356+25C>T (n.1356+25C>T)
c.35+25C>T
c.273+25C>T (n.273+25C>T)
c.2412+25C>T (n.2412+25C>T)
c.1398+25C>T (n.1398+25C>T)
c.1122+25C>T (n.1122+25C>T)
c.1038+25C>T (n.1038+25C>T)
4g.664970C>ACA2578009854PDE6Bc.2193+26C>A (n.2193+26C>A)
c.1356+26C>A (n.1356+26C>A)
c.35+26C>A
c.273+26C>A (n.273+26C>A)
c.2412+26C>A (n.2412+26C>A)
c.1398+26C>A (n.1398+26C>A)
c.1122+26C>A (n.1122+26C>A)
c.1038+26C>A (n.1038+26C>A)
 gnomAD v4
4g.664970C>GCA2669420297PDE6Bc.2193+26C>G (n.2193+26C>G)
c.1356+26C>G (n.1356+26C>G)
c.35+26C>G
c.273+26C>G (n.273+26C>G)
c.2412+26C>G (n.2412+26C>G)
c.1398+26C>G (n.1398+26C>G)
c.1122+26C>G (n.1122+26C>G)
c.1038+26C>G (n.1038+26C>G)
 gnomAD v4
4g.664970C>TCA2669420298PDE6Bc.2193+26C>T (n.2193+26C>T)
c.1356+26C>T (n.1356+26C>T)
c.35+26C>T
c.273+26C>T (n.273+26C>T)
c.2412+26C>T (n.2412+26C>T)
c.1398+26C>T (n.1398+26C>T)
c.1122+26C>T (n.1122+26C>T)
c.1038+26C>T (n.1038+26C>T)
 gnomAD v4
4g.664971A=CA1432854447PDE6Bc.2193+27A= (n.2193+27A=)
c.1356+27A= (n.1356+27A=)
c.35+27A=
c.273+27A= (n.273+27A=)
c.2412+27A= (n.2412+27A=)
c.1398+27A= (n.1398+27A=)
c.1122+27A= (n.1122+27A=)
c.1038+27A= (n.1038+27A=)
4g.664971A>GCA1432854446PDE6Bc.2193+27A>G (n.2193+27A>G)
c.1356+27A>G (n.1356+27A>G)
c.35+27A>G
c.273+27A>G (n.273+27A>G)
c.2412+27A>G (n.2412+27A>G)
c.1398+27A>G (n.1398+27A>G)
c.1122+27A>G (n.1122+27A>G)
c.1038+27A>G (n.1038+27A>G)
 dbSNP gnomAD v4

Number of alleles fetched