Chr Mutation (hg38) CAid Gene Transcript Linkouts
4g.660430C>ACA2669419663PDE6Bc.1468-37C>A (n.1468-37C>A)
c.631-37C>A (n.631-37C>A)
c.1687-37C>A (n.1687-37C>A)
c.673-37C>A (n.673-37C>A)
c.397-37C>A (n.397-37C>A)
c.313-37C>A (n.313-37C>A)
 gnomAD v4
4g.660430C=CA1432855013PDE6Bc.1468-37C= (n.1468-37C=)
c.631-37C= (n.631-37C=)
c.1687-37C= (n.1687-37C=)
c.673-37C= (n.673-37C=)
c.397-37C= (n.397-37C=)
c.313-37C= (n.313-37C=)
4g.660431dupCA2794542PDE6Bc.1468-36dup (n.1468-36dup)
c.631-36dup (n.631-36dup)
c.1687-36dup (n.1687-36dup)
c.673-36dup (n.673-36dup)
c.397-36dup (n.397-36dup)
c.313-36dup (n.313-36dup)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.660432G>ACA2794543PDE6Bc.1468-35G>A (n.1468-35G>A)
c.631-35G>A (n.631-35G>A)
c.1687-35G>A (n.1687-35G>A)
c.673-35G>A (n.673-35G>A)
c.397-35G>A (n.397-35G>A)
c.313-35G>A (n.313-35G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.660432G=CA1432855014PDE6Bc.1468-35G= (n.1468-35G=)
c.631-35G= (n.631-35G=)
c.1687-35G= (n.1687-35G=)
c.673-35G= (n.673-35G=)
c.397-35G= (n.397-35G=)
c.313-35G= (n.313-35G=)
4g.660434C=CA1432855016PDE6Bc.1468-33C= (n.1468-33C=)
c.631-33C= (n.631-33C=)
c.1687-33C= (n.1687-33C=)
c.673-33C= (n.673-33C=)
c.397-33C= (n.397-33C=)
c.313-33C= (n.313-33C=)
4g.660434C>GCA2794544PDE6Bc.1468-33C>G (n.1468-33C>G)
c.631-33C>G (n.631-33C>G)
c.1687-33C>G (n.1687-33C>G)
c.673-33C>G (n.673-33C>G)
c.397-33C>G (n.397-33C>G)
c.313-33C>G (n.313-33C>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.660434C>TCA2590977342PDE6Bc.1468-33C>T (n.1468-33C>T)
c.631-33C>T (n.631-33C>T)
c.1687-33C>T (n.1687-33C>T)
c.673-33C>T (n.673-33C>T)
c.397-33C>T (n.397-33C>T)
c.313-33C>T (n.313-33C>T)
 gnomAD v3 gnomAD v4
4g.660435C=CA1432855017PDE6Bc.1468-32C= (n.1468-32C=)
c.631-32C= (n.631-32C=)
c.1687-32C= (n.1687-32C=)
c.673-32C= (n.673-32C=)
c.397-32C= (n.397-32C=)
c.313-32C= (n.313-32C=)
4g.660435C>TCA2794545PDE6Bc.1468-32C>T (n.1468-32C>T)
c.631-32C>T (n.631-32C>T)
c.1687-32C>T (n.1687-32C>T)
c.673-32C>T (n.673-32C>T)
c.397-32C>T (n.397-32C>T)
c.313-32C>T (n.313-32C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.660437A=CA1432855018PDE6Bc.1468-30A= (n.1468-30A=)
c.631-30A= (n.631-30A=)
c.1687-30A= (n.1687-30A=)
c.673-30A= (n.673-30A=)
c.397-30A= (n.397-30A=)
c.313-30A= (n.313-30A=)
4g.660437A>CCA1432855020PDE6Bc.1468-30A>C (n.1468-30A>C)
c.631-30A>C (n.631-30A>C)
c.1687-30A>C (n.1687-30A>C)
c.673-30A>C (n.673-30A>C)
c.397-30A>C (n.397-30A>C)
c.313-30A>C (n.313-30A>C)
 dbSNP
4g.660438C>ACA1432855023PDE6Bc.1468-29C>A (n.1468-29C>A)
c.631-29C>A (n.631-29C>A)
c.1687-29C>A (n.1687-29C>A)
c.673-29C>A (n.673-29C>A)
c.397-29C>A (n.397-29C>A)
c.313-29C>A (n.313-29C>A)
 dbSNP gnomAD v3 gnomAD v4
4g.660438C=CA1432855022PDE6Bc.1468-29C= (n.1468-29C=)
c.631-29C= (n.631-29C=)
c.1687-29C= (n.1687-29C=)
c.673-29C= (n.673-29C=)
c.397-29C= (n.397-29C=)
c.313-29C= (n.313-29C=)
4g.660438C>TCA648268433PDE6Bc.1468-29C>T (n.1468-29C>T)
c.631-29C>T (n.631-29C>T)
c.1687-29C>T (n.1687-29C>T)
c.673-29C>T (n.673-29C>T)
c.397-29C>T (n.397-29C>T)
c.313-29C>T (n.313-29C>T)
 dbSNP COSMIC
4g.660442_660445delCA2704991626PDE6Bc.1468-25_1468-22del (n.1468-25_1468-22del)
c.631-25_631-22del (n.631-25_631-22del)
c.1687-25_1687-22del (n.1687-25_1687-22del)
c.673-25_673-22del (n.673-25_673-22del)
c.397-25_397-22del (n.397-25_397-22del)
c.313-25_313-22del (n.313-25_313-22del)
 dbSNP
4g.660439C=CA1432855025PDE6Bc.1468-28C= (n.1468-28C=)
c.631-28C= (n.631-28C=)
c.1687-28C= (n.1687-28C=)
c.673-28C= (n.673-28C=)
c.397-28C= (n.397-28C=)
c.313-28C= (n.313-28C=)
4g.660439C>TCA797478335PDE6Bc.1468-28C>T (n.1468-28C>T)
c.631-28C>T (n.631-28C>T)
c.1687-28C>T (n.1687-28C>T)
c.673-28C>T (n.673-28C>T)
c.397-28C>T (n.397-28C>T)
c.313-28C>T (n.313-28C>T)
 dbSNP
4g.660441C=CA1432855027PDE6Bc.1468-26C= (n.1468-26C=)
c.631-26C= (n.631-26C=)
c.1687-26C= (n.1687-26C=)
c.673-26C= (n.673-26C=)
c.397-26C= (n.397-26C=)
c.313-26C= (n.313-26C=)
4g.660441C>TCA549125529PDE6Bc.1468-26C>T (n.1468-26C>T)
c.631-26C>T (n.631-26C>T)
c.1687-26C>T (n.1687-26C>T)
c.673-26C>T (n.673-26C>T)
c.397-26C>T (n.397-26C>T)
c.313-26C>T (n.313-26C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.660443delCA2669419670PDE6Bc.1468-24del (n.1468-24del)
c.631-24del (n.631-24del)
c.1687-24del (n.1687-24del)
c.673-24del (n.673-24del)
c.397-24del (n.397-24del)
c.313-24del (n.313-24del)
 gnomAD v4
4g.660442C=CA1432855029PDE6Bc.1468-25C= (n.1468-25C=)
c.631-25C= (n.631-25C=)
c.1687-25C= (n.1687-25C=)
c.673-25C= (n.673-25C=)
c.397-25C= (n.397-25C=)
c.313-25C= (n.313-25C=)
4g.660442C>GCA2794546PDE6Bc.1468-25C>G (n.1468-25C>G)
c.631-25C>G (n.631-25C>G)
c.1687-25C>G (n.1687-25C>G)
c.673-25C>G (n.673-25C>G)
c.397-25C>G (n.397-25C>G)
c.313-25C>G (n.313-25C>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.660442C>TCA549125533PDE6Bc.1468-25C>T (n.1468-25C>T)
c.631-25C>T (n.631-25C>T)
c.1687-25C>T (n.1687-25C>T)
c.673-25C>T (n.673-25C>T)
c.397-25C>T (n.397-25C>T)
c.313-25C>T (n.313-25C>T)
 dbSNP gnomAD v2 gnomAD v4
4g.660443C=CA1432855030PDE6Bc.1468-24C= (n.1468-24C=)
c.631-24C= (n.631-24C=)
c.1687-24C= (n.1687-24C=)
c.673-24C= (n.673-24C=)
c.397-24C= (n.397-24C=)
c.313-24C= (n.313-24C=)
4g.660443C>GCA2794547PDE6Bc.1468-24C>G (n.1468-24C>G)
c.631-24C>G (n.631-24C>G)
c.1687-24C>G (n.1687-24C>G)
c.673-24C>G (n.673-24C>G)
c.397-24C>G (n.397-24C>G)
c.313-24C>G (n.313-24C>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.660444T>ACA437897642PDE6Bc.1468-23T>A (n.1468-23T>A)
c.631-23T>A (n.631-23T>A)
c.1687-23T>A (n.1687-23T>A)
c.673-23T>A (n.673-23T>A)
c.397-23T>A (n.397-23T>A)
c.313-23T>A (n.313-23T>A)
4g.660448_660466dupCA2760112405PDE6Bc.1468-19_1468-1dup (n.1468-19_1468-1dup)
c.631-19_631-1dup (n.631-19_631-1dup)
c.1687-19_1687-1dup (n.1687-19_1687-1dup)
c.673-19_673-1dup (n.673-19_673-1dup)
c.397-19_397-1dup (n.397-19_397-1dup)
c.313-19_313-1dup (n.313-19_313-1dup)
4g.660446A=CA1432855032PDE6Bc.1468-21A= (n.1468-21A=)
c.631-21A= (n.631-21A=)
c.1687-21A= (n.1687-21A=)
c.673-21A= (n.673-21A=)
c.397-21A= (n.397-21A=)
c.313-21A= (n.313-21A=)
4g.660446A>GCA91087290PDE6Bc.1468-21A>G (n.1468-21A>G)
c.631-21A>G (n.631-21A>G)
c.1687-21A>G (n.1687-21A>G)
c.673-21A>G (n.673-21A>G)
c.397-21A>G (n.397-21A>G)
c.313-21A>G (n.313-21A>G)
 dbSNP gnomAD v3 gnomAD v4
4g.660447G>ACA2669419671PDE6Bc.1468-20G>A (n.1468-20G>A)
c.631-20G>A (n.631-20G>A)
c.1687-20G>A (n.1687-20G>A)
c.673-20G>A (n.673-20G>A)
c.397-20G>A (n.397-20G>A)
c.313-20G>A (n.313-20G>A)
 gnomAD v4
4g.660447G>CCA2794548PDE6Bc.1468-20G>C (n.1468-20G>C)
c.631-20G>C (n.631-20G>C)
c.1687-20G>C (n.1687-20G>C)
c.673-20G>C (n.673-20G>C)
c.397-20G>C (n.397-20G>C)
c.313-20G>C (n.313-20G>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.660447G=CA1432855033PDE6Bc.1468-20G= (n.1468-20G=)
c.631-20G= (n.631-20G=)
c.1687-20G= (n.1687-20G=)
c.673-20G= (n.673-20G=)
c.397-20G= (n.397-20G=)
c.313-20G= (n.313-20G=)
4g.660449C=CA1432855034PDE6Bc.1468-18C= (n.1468-18C=)
c.631-18C= (n.631-18C=)
c.1687-18C= (n.1687-18C=)
c.673-18C= (n.673-18C=)
c.397-18C= (n.397-18C=)
c.313-18C= (n.313-18C=)
4g.660449C>GCA2794549PDE6Bc.1468-18C>G (n.1468-18C>G)
c.631-18C>G (n.631-18C>G)
c.1687-18C>G (n.1687-18C>G)
c.673-18C>G (n.673-18C>G)
c.397-18C>G (n.397-18C>G)
c.313-18C>G (n.313-18C>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.660449C>TCA2794550PDE6Bc.1468-18C>T (n.1468-18C>T)
c.631-18C>T (n.631-18C>T)
c.1687-18C>T (n.1687-18C>T)
c.673-18C>T (n.673-18C>T)
c.397-18C>T (n.397-18C>T)
c.313-18C>T (n.313-18C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.660450C=CA1432855036PDE6Bc.1468-17C= (n.1468-17C=)
c.631-17C= (n.631-17C=)
c.1687-17C= (n.1687-17C=)
c.673-17C= (n.673-17C=)
c.397-17C= (n.397-17C=)
c.313-17C= (n.313-17C=)
4g.660450C>TCA549125544PDE6Bc.1468-17C>T (n.1468-17C>T)
c.631-17C>T (n.631-17C>T)
c.1687-17C>T (n.1687-17C>T)
c.673-17C>T (n.673-17C>T)
c.397-17C>T (n.397-17C>T)
c.313-17C>T (n.313-17C>T)
 dbSNP gnomAD v2 gnomAD v4
4g.660451A>GCA2669419673PDE6Bc.1468-16A>G (n.1468-16A>G)
c.631-16A>G (n.631-16A>G)
c.1687-16A>G (n.1687-16A>G)
c.673-16A>G (n.673-16A>G)
c.397-16A>G (n.397-16A>G)
c.313-16A>G (n.313-16A>G)
 gnomAD v4
4g.660452C=CA1432855038PDE6Bc.1468-15C= (n.1468-15C=)
c.631-15C= (n.631-15C=)
c.1687-15C= (n.1687-15C=)
c.673-15C= (n.673-15C=)
c.397-15C= (n.397-15C=)
c.313-15C= (n.313-15C=)
4g.660452C>TCA2794551PDE6Bc.1468-15C>T (n.1468-15C>T)
c.631-15C>T (n.631-15C>T)
c.1687-15C>T (n.1687-15C>T)
c.673-15C>T (n.673-15C>T)
c.397-15C>T (n.397-15C>T)
c.313-15C>T (n.313-15C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.660454A=CA1432855039PDE6Bc.1468-13A= (n.1468-13A=)
c.631-13A= (n.631-13A=)
c.1687-13A= (n.1687-13A=)
c.673-13A= (n.673-13A=)
c.397-13A= (n.397-13A=)
c.313-13A= (n.313-13A=)
4g.660454A>GCA549125552PDE6Bc.1468-13A>G (n.1468-13A>G)
c.631-13A>G (n.631-13A>G)
c.1687-13A>G (n.1687-13A>G)
c.673-13A>G (n.673-13A>G)
c.397-13A>G (n.397-13A>G)
c.313-13A>G (n.313-13A>G)
 dbSNP gnomAD v2 gnomAD v4
4g.660456C>ACA648268435PDE6Bc.1468-11C>A (n.1468-11C>A)
c.631-11C>A (n.631-11C>A)
c.1687-11C>A (n.1687-11C>A)
c.673-11C>A (n.673-11C>A)
c.397-11C>A (n.397-11C>A)
c.313-11C>A (n.313-11C>A)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
4g.660456C=CA1432855041PDE6Bc.1468-11C= (n.1468-11C=)
c.631-11C= (n.631-11C=)
c.1687-11C= (n.1687-11C=)
c.673-11C= (n.673-11C=)
c.397-11C= (n.397-11C=)
c.313-11C= (n.313-11C=)
4g.660456C>TCA2669419675PDE6Bc.1468-11C>T (n.1468-11C>T)
c.631-11C>T (n.631-11C>T)
c.1687-11C>T (n.1687-11C>T)
c.673-11C>T (n.673-11C>T)
c.397-11C>T (n.397-11C>T)
c.313-11C>T (n.313-11C>T)
 gnomAD v4
4g.660458C>TCA2669419676PDE6Bc.1468-9C>T (n.1468-9C>T)
c.631-9C>T (n.631-9C>T)
c.1687-9C>T (n.1687-9C>T)
c.673-9C>T (n.673-9C>T)
c.397-9C>T (n.397-9C>T)
c.313-9C>T (n.313-9C>T)
 gnomAD v4
4g.660460C=CA1432855042PDE6Bc.1468-7C= (n.1468-7C=)
c.631-7C= (n.631-7C=)
c.1687-7C= (n.1687-7C=)
c.673-7C= (n.673-7C=)
c.397-7C= (n.397-7C=)
c.313-7C= (n.313-7C=)
4g.660460C>GCA645539611PDE6Bc.1468-7C>G (n.1468-7C>G)
c.631-7C>G (n.631-7C>G)
c.1687-7C>G (n.1687-7C>G)
c.673-7C>G (n.673-7C>G)
c.397-7C>G (n.397-7C>G)
c.313-7C>G (n.313-7C>G)
 COSMIC
4g.660460C>TCA549125554PDE6Bc.1468-7C>T (n.1468-7C>T)
c.631-7C>T (n.631-7C>T)
c.1687-7C>T (n.1687-7C>T)
c.673-7C>T (n.673-7C>T)
c.397-7C>T (n.397-7C>T)
c.313-7C>T (n.313-7C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.660462C>ACA2760112407PDE6Bc.1468-5C>A (n.1468-5C>A)
c.631-5C>A (n.631-5C>A)
c.1687-5C>A (n.1687-5C>A)
c.673-5C>A (n.673-5C>A)
c.397-5C>A (n.397-5C>A)
c.313-5C>A (n.313-5C>A)
4g.660463A>CCA2669419677PDE6Bc.1468-4A>C (n.1468-4A>C)
c.631-4A>C (n.631-4A>C)
c.1687-4A>C (n.1687-4A>C)
c.673-4A>C (n.673-4A>C)
c.397-4A>C (n.397-4A>C)
c.313-4A>C (n.313-4A>C)
 gnomAD v4
4g.660464_660467delinsCAGACA1432855044PDE6Bc.1468-3_1468delinsCAGA
c.631-3_631delinsCAGA
c.1687-3_1687delinsCAGA
c.673-3_673delinsCAGA
c.397-3_397delinsCAGA
c.313-3_313delinsCAGA
4g.660465A=CA1432855047PDE6Bc.1468-2A= (n.1468-2A=)
c.631-2A= (n.631-2A=)
c.1687-2A= (n.1687-2A=)
c.673-2A= (n.673-2A=)
c.397-2A= (n.397-2A=)
c.313-2A= (n.313-2A=)
4g.660465A>CCA355915697PDE6Bc.1468-2A>C (n.1468-2A>C)
c.631-2A>C (n.631-2A>C)
c.1687-2A>C (n.1687-2A>C)
c.673-2A>C (n.673-2A>C)
c.397-2A>C (n.397-2A>C)
c.313-2A>C (n.313-2A>C)
4g.660465A>GCA2794553PDE6Bc.1468-2A>G (n.1468-2A>G)
c.631-2A>G (n.631-2A>G)
c.1687-2A>G (n.1687-2A>G)
c.673-2A>G (n.673-2A>G)
c.397-2A>G (n.397-2A>G)
c.313-2A>G (n.313-2A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.660465A>TCA355915696PDE6Bc.1468-2A>T (n.1468-2A>T)
c.631-2A>T (n.631-2A>T)
c.1687-2A>T (n.1687-2A>T)
c.673-2A>T (n.673-2A>T)
c.397-2A>T (n.397-2A>T)
c.313-2A>T (n.313-2A>T)
4g.660467_660469delCA2794552PDE6Bc.1468_1470del
c.631_633del
c.1687_1689del
c.673_675del
c.397_399del
c.313_315del
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.660466G>ACA91087334PDE6Bc.1468-1G>A (n.1468-1G>A)
c.631-1G>A (n.631-1G>A)
c.1687-1G>A (n.1687-1G>A)
c.673-1G>A (n.673-1G>A)
c.397-1G>A (n.397-1G>A)
c.313-1G>A (n.313-1G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.660466G>CCA355915698PDE6Bc.1468-1G>C (n.1468-1G>C)
c.631-1G>C (n.631-1G>C)
c.1687-1G>C (n.1687-1G>C)
c.673-1G>C (n.673-1G>C)
c.397-1G>C (n.397-1G>C)
c.313-1G>C (n.313-1G>C)
4g.660466G=CA1432855052PDE6Bc.1468-1G= (n.1468-1G=)
c.631-1G= (n.631-1G=)
c.1687-1G= (n.1687-1G=)
c.673-1G= (n.673-1G=)
c.397-1G= (n.397-1G=)
c.313-1G= (n.313-1G=)
4g.660466G>TCA355915699PDE6Bc.1468-1G>T (n.1468-1G>T)
c.631-1G>T (n.631-1G>T)
c.1687-1G>T (n.1687-1G>T)
c.673-1G>T (n.673-1G>T)
c.397-1G>T (n.397-1G>T)
c.313-1G>T (n.313-1G>T)
4g.660467A>CCA355915700PDE6Bc.1468A>C (p.Lys490Gln)
c.631A>C (p.Lys211Gln)
c.1687A>C (p.Lys563Gln)
c.673A>C (p.Lys225Gln)
c.397A>C (p.Lys133Gln)
c.313A>C (p.Lys105Gln)
4g.660467A>GCA355915701PDE6Bc.1468A>G (p.Lys490Glu)
c.631A>G (p.Lys211Glu)
c.1687A>G (p.Lys563Glu)
c.673A>G (p.Lys225Glu)
c.397A>G (p.Lys133Glu)
c.313A>G (p.Lys105Glu)
4g.660467A>TCA355915702PDE6Bc.1468A>T (p.Lys490Ter)
c.631A>T (p.Lys211Ter)
c.1687A>T (p.Lys563Ter)
c.673A>T (p.Lys225Ter)
c.397A>T (p.Lys133Ter)
c.313A>T (p.Lys105Ter)
4g.660467_660470delinsAAGGCA1432855054PDE6Bc.1468_1471delinsAAGG (p.Lys490=)
c.631_634delinsAAGG (p.Lys211=)
c.1687_1690delinsAAGG (p.Lys563=)
c.673_676delinsAAGG (p.Lys225=)
c.397_400delinsAAGG (p.Lys133=)
c.313_316delinsAAGG (p.Lys105=)
4g.660468A=CA1432855056PDE6Bc.1469A= (p.Lys490=)
c.632A= (p.Lys211=)
c.1688A= (p.Lys563=)
c.674A= (p.Lys225=)
c.398A= (p.Lys133=)
c.314A= (p.Lys105=)
4g.660468A>CCA355915703PDE6Bc.1469A>C (p.Lys490Thr)
c.632A>C (p.Lys211Thr)
c.1688A>C (p.Lys563Thr)
c.674A>C (p.Lys225Thr)
c.398A>C (p.Lys133Thr)
c.314A>C (p.Lys105Thr)
4g.660468A>GCA355915704PDE6Bc.1469A>G (p.Lys490Arg)
c.632A>G (p.Lys211Arg)
c.1688A>G (p.Lys563Arg)
c.674A>G (p.Lys225Arg)
c.398A>G (p.Lys133Arg)
c.314A>G (p.Lys105Arg)
 dbSNP
4g.660468A>TCA355915705PDE6Bc.1469A>T (p.Lys490Met)
c.632A>T (p.Lys211Met)
c.1688A>T (p.Lys563Met)
c.674A>T (p.Lys225Met)
c.398A>T (p.Lys133Met)
c.314A>T (p.Lys105Met)
4g.660473_660475delCA2794554PDE6Bc.1474_1476del (p.Glu492del)
c.637_639del (p.Glu213del)
c.1693_1695del (p.Glu565del)
c.679_681del (p.Glu227del)
c.403_405del (p.Glu135del)
c.319_321del (p.Glu107del)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.660469G>ACA437897648PDE6Bc.1470G>A (p.Lys490=)
c.633G>A (p.Lys211=)
c.1689G>A (p.Lys563=)
c.675G>A (p.Lys225=)
c.399G>A (p.Lys133=)
c.315G>A (p.Lys105=)
 gnomAD v4
4g.660469G>CCA355915708PDE6Bc.1470G>C (p.Lys490Asn)
c.633G>C (p.Lys211Asn)
c.1689G>C (p.Lys563Asn)
c.675G>C (p.Lys225Asn)
c.399G>C (p.Lys133Asn)
c.315G>C (p.Lys105Asn)
4g.660469G=CA1432855058PDE6Bc.1470G= (p.Lys490=)
c.633G= (p.Lys211=)
c.1689G= (p.Lys563=)
c.675G= (p.Lys225=)
c.399G= (p.Lys133=)
c.315G= (p.Lys105=)
4g.660469G>TCA355915710PDE6Bc.1470G>T (p.Lys490Asn)
c.633G>T (p.Lys211Asn)
c.1689G>T (p.Lys563Asn)
c.675G>T (p.Lys225Asn)
c.399G>T (p.Lys133Asn)
c.315G>T (p.Lys105Asn)
 dbSNP gnomAD v4
4g.660470G>ACA355915716PDE6Bc.1471G>A (p.Glu491Lys)
c.634G>A (p.Glu212Lys)
c.1690G>A (p.Glu564Lys)
c.676G>A (p.Glu226Lys)
c.400G>A (p.Glu134Lys)
c.316G>A (p.Glu106Lys)
 ClinVar dbSNP gnomAD v4 COSMIC
4g.660470G>CCA355915712PDE6Bc.1471G>C (p.Glu491Gln)
c.634G>C (p.Glu212Gln)
c.1690G>C (p.Glu564Gln)
c.676G>C (p.Glu226Gln)
c.400G>C (p.Glu134Gln)
c.316G>C (p.Glu106Gln)
4g.660470G>TCA355915714PDE6Bc.1471G>T (p.Glu491Ter)
c.634G>T (p.Glu212Ter)
c.1690G>T (p.Glu564Ter)
c.676G>T (p.Glu226Ter)
c.400G>T (p.Glu134Ter)
c.316G>T (p.Glu106Ter)
4g.660471A>CCA355915718PDE6Bc.1472A>C (p.Glu491Ala)
c.635A>C (p.Glu212Ala)
c.1691A>C (p.Glu564Ala)
c.677A>C (p.Glu226Ala)
c.401A>C (p.Glu134Ala)
c.317A>C (p.Glu106Ala)
4g.660471A>GCA355915720PDE6Bc.1472A>G (p.Glu491Gly)
c.635A>G (p.Glu212Gly)
c.1691A>G (p.Glu564Gly)
c.677A>G (p.Glu226Gly)
c.401A>G (p.Glu134Gly)
c.317A>G (p.Glu106Gly)
 gnomAD v4
4g.660471A>TCA355915721PDE6Bc.1472A>T (p.Glu491Val)
c.635A>T (p.Glu212Val)
c.1691A>T (p.Glu564Val)
c.677A>T (p.Glu226Val)
c.401A>T (p.Glu134Val)
c.317A>T (p.Glu106Val)
4g.660472G>ACA437897651PDE6Bc.1473G>A (p.Glu491=)
c.636G>A (p.Glu212=)
c.1692G>A (p.Glu564=)
c.678G>A (p.Glu226=)
c.402G>A (p.Glu134=)
c.318G>A (p.Glu106=)
4g.660472G>CCA355915723PDE6Bc.1473G>C (p.Glu491Asp)
c.636G>C (p.Glu212Asp)
c.1692G>C (p.Glu564Asp)
c.678G>C (p.Glu226Asp)
c.402G>C (p.Glu134Asp)
c.318G>C (p.Glu106Asp)
4g.660472G>TCA355915725PDE6Bc.1473G>T (p.Glu491Asp)
c.636G>T (p.Glu212Asp)
c.1692G>T (p.Glu564Asp)
c.678G>T (p.Glu226Asp)
c.402G>T (p.Glu134Asp)
c.318G>T (p.Glu106Asp)
4g.660473G>ACA2794555PDE6Bc.1474G>A (p.Glu492Lys)
c.637G>A (p.Glu213Lys)
c.1693G>A (p.Glu565Lys)
c.679G>A (p.Glu227Lys)
c.403G>A (p.Glu135Lys)
c.319G>A (p.Glu107Lys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.660473G>CCA355915729PDE6Bc.1474G>C (p.Glu492Gln)
c.637G>C (p.Glu213Gln)
c.1693G>C (p.Glu565Gln)
c.679G>C (p.Glu227Gln)
c.403G>C (p.Glu135Gln)
c.319G>C (p.Glu107Gln)
4g.660473G=CA1432855060PDE6Bc.1474G= (p.Glu492=)
c.637G= (p.Glu213=)
c.1693G= (p.Glu565=)
c.679G= (p.Glu227=)
c.403G= (p.Glu135=)
c.319G= (p.Glu107=)
4g.660473G>TCA355915731PDE6Bc.1474G>T (p.Glu492Ter)
c.637G>T (p.Glu213Ter)
c.1693G>T (p.Glu565Ter)
c.679G>T (p.Glu227Ter)
c.403G>T (p.Glu135Ter)
c.319G>T (p.Glu107Ter)
4g.660474A>CCA355915732PDE6Bc.1475A>C (p.Glu492Ala)
c.638A>C (p.Glu213Ala)
c.1694A>C (p.Glu565Ala)
c.680A>C (p.Glu227Ala)
c.404A>C (p.Glu135Ala)
c.320A>C (p.Glu107Ala)
4g.660474A>GCA355915733PDE6Bc.1475A>G (p.Glu492Gly)
c.638A>G (p.Glu213Gly)
c.1694A>G (p.Glu565Gly)
c.680A>G (p.Glu227Gly)
c.404A>G (p.Glu135Gly)
c.320A>G (p.Glu107Gly)
 gnomAD v4
4g.660474A>TCA355915735PDE6Bc.1475A>T (p.Glu492Val)
c.638A>T (p.Glu213Val)
c.1694A>T (p.Glu565Val)
c.680A>T (p.Glu227Val)
c.404A>T (p.Glu135Val)
c.320A>T (p.Glu107Val)
4g.660475G>ACA437897654PDE6Bc.1476G>A (p.Glu492=)
c.639G>A (p.Glu213=)
c.1695G>A (p.Glu565=)
c.681G>A (p.Glu227=)
c.405G>A (p.Glu135=)
c.321G>A (p.Glu107=)
4g.660475G>CCA355915737PDE6Bc.1476G>C (p.Glu492Asp)
c.639G>C (p.Glu213Asp)
c.1695G>C (p.Glu565Asp)
c.681G>C (p.Glu227Asp)
c.405G>C (p.Glu135Asp)
c.321G>C (p.Glu107Asp)
4g.660475G>TCA355915739PDE6Bc.1476G>T (p.Glu492Asp)
c.639G>T (p.Glu213Asp)
c.1695G>T (p.Glu565Asp)
c.681G>T (p.Glu227Asp)
c.405G>T (p.Glu135Asp)
c.321G>T (p.Glu107Asp)
4g.660476C>ACA355915743PDE6Bc.1477C>A (p.Leu493Met)
c.640C>A (p.Leu214Met)
c.1696C>A (p.Leu566Met)
c.682C>A (p.Leu228Met)
c.406C>A (p.Leu136Met)
c.322C>A (p.Leu108Met)
4g.660476C=CA1432855062PDE6Bc.1477C= (p.Leu493=)
c.640C= (p.Leu214=)
c.1696C= (p.Leu566=)
c.682C= (p.Leu228=)
c.406C= (p.Leu136=)
c.322C= (p.Leu108=)
4g.660476C>GCA355915741PDE6Bc.1477C>G (p.Leu493Val)
c.640C>G (p.Leu214Val)
c.1696C>G (p.Leu566Val)
c.682C>G (p.Leu228Val)
c.406C>G (p.Leu136Val)
c.322C>G (p.Leu108Val)
4g.660476C>TCA437897655PDE6Bc.1477C>T (p.Leu493=)
c.640C>T (p.Leu214=)
c.1696C>T (p.Leu566=)
c.682C>T (p.Leu228=)
c.406C>T (p.Leu136=)
c.322C>T (p.Leu108=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.660477T>ACA355915745PDE6Bc.1478T>A (p.Leu493Gln)
c.641T>A (p.Leu214Gln)
c.1697T>A (p.Leu566Gln)
c.683T>A (p.Leu228Gln)
c.407T>A (p.Leu136Gln)
c.323T>A (p.Leu108Gln)
4g.660477T>CCA355915749PDE6Bc.1478T>C (p.Leu493Pro)
c.641T>C (p.Leu214Pro)
c.1697T>C (p.Leu566Pro)
c.683T>C (p.Leu228Pro)
c.407T>C (p.Leu136Pro)
c.323T>C (p.Leu108Pro)
4g.660477T>GCA355915747PDE6Bc.1478T>G (p.Leu493Arg)
c.641T>G (p.Leu214Arg)
c.1697T>G (p.Leu566Arg)
c.683T>G (p.Leu228Arg)
c.407T>G (p.Leu136Arg)
c.323T>G (p.Leu108Arg)
4g.660478G>ACA437897656PDE6Bc.1479G>A (p.Leu493=)
c.642G>A (p.Leu214=)
c.1698G>A (p.Leu566=)
c.684G>A (p.Leu228=)
c.408G>A (p.Leu136=)
c.324G>A (p.Leu108=)
4g.660478G>CCA437897657PDE6Bc.1479G>C (p.Leu493=)
c.642G>C (p.Leu214=)
c.1698G>C (p.Leu566=)
c.684G>C (p.Leu228=)
c.408G>C (p.Leu136=)
c.324G>C (p.Leu108=)
4g.660478G>TCA437897658PDE6Bc.1479G>T (p.Leu493=)
c.642G>T (p.Leu214=)
c.1698G>T (p.Leu566=)
c.684G>T (p.Leu228=)
c.408G>T (p.Leu136=)
c.324G>T (p.Leu108=)
 gnomAD v4 COSMIC
4g.660479C>ACA355915751PDE6Bc.1480C>A (p.Pro494Thr)
c.643C>A (p.Pro215Thr)
c.1699C>A (p.Pro567Thr)
c.685C>A (p.Pro229Thr)
c.409C>A (p.Pro137Thr)
c.325C>A (p.Pro109Thr)
4g.660479C=CA1432855067PDE6Bc.1480C= (p.Pro494=)
c.643C= (p.Pro215=)
c.1699C= (p.Pro567=)
c.685C= (p.Pro229=)
c.409C= (p.Pro137=)
c.325C= (p.Pro109=)
4g.660479C>GCA355915752PDE6Bc.1480C>G (p.Pro494Ala)
c.643C>G (p.Pro215Ala)
c.1699C>G (p.Pro567Ala)
c.685C>G (p.Pro229Ala)
c.409C>G (p.Pro137Ala)
c.325C>G (p.Pro109Ala)
4g.660479C>TCA355915754PDE6Bc.1480C>T (p.Pro494Ser)
c.643C>T (p.Pro215Ser)
c.1699C>T (p.Pro567Ser)
c.685C>T (p.Pro229Ser)
c.409C>T (p.Pro137Ser)
c.325C>T (p.Pro109Ser)
 dbSNP gnomAD v2 gnomAD v4
4g.660480C>ACA355915755PDE6Bc.1481C>A (p.Pro494Gln)
c.644C>A (p.Pro215Gln)
c.1700C>A (p.Pro567Gln)
c.686C>A (p.Pro229Gln)
c.410C>A (p.Pro137Gln)
c.326C>A (p.Pro109Gln)
4g.660480C=CA1432855069PDE6Bc.1481C= (p.Pro494=)
c.644C= (p.Pro215=)
c.1700C= (p.Pro567=)
c.686C= (p.Pro229=)
c.410C= (p.Pro137=)
c.326C= (p.Pro109=)
4g.660480C>GCA355915757PDE6Bc.1481C>G (p.Pro494Arg)
c.644C>G (p.Pro215Arg)
c.1700C>G (p.Pro567Arg)
c.686C>G (p.Pro229Arg)
c.410C>G (p.Pro137Arg)
c.326C>G (p.Pro109Arg)
4g.660480C>TCA355915760PDE6Bc.1481C>T (p.Pro494Leu)
c.644C>T (p.Pro215Leu)
c.1700C>T (p.Pro567Leu)
c.686C>T (p.Pro229Leu)
c.410C>T (p.Pro137Leu)
c.326C>T (p.Pro109Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.660481A=CA1432855074PDE6Bc.1482A= (p.Pro494=)
c.645A= (p.Pro215=)
c.1701A= (p.Pro567=)
c.687A= (p.Pro229=)
c.411A= (p.Pro137=)
c.327A= (p.Pro109=)
4g.660481A>CCA437897662PDE6Bc.1482A>C (p.Pro494=)
c.645A>C (p.Pro215=)
c.1701A>C (p.Pro567=)
c.687A>C (p.Pro229=)
c.411A>C (p.Pro137=)
c.327A>C (p.Pro109=)
4g.660481A>GCA437897663PDE6Bc.1482A>G (p.Pro494=)
c.645A>G (p.Pro215=)
c.1701A>G (p.Pro567=)
c.687A>G (p.Pro229=)
c.411A>G (p.Pro137=)
c.327A>G (p.Pro109=)
4g.660481A>TCA437897664PDE6Bc.1482A>T (p.Pro494=)
c.645A>T (p.Pro215=)
c.1701A>T (p.Pro567=)
c.687A>T (p.Pro229=)
c.411A>T (p.Pro137=)
c.327A>T (p.Pro109=)
4g.660482G>ACA355915762PDE6Bc.1483G>A (p.Gly495Arg)
c.646G>A (p.Gly216Arg)
c.1702G>A (p.Gly568Arg)
c.688G>A (p.Gly230Arg)
c.412G>A (p.Gly138Arg)
c.328G>A (p.Gly110Arg)
4g.660482G>CCA355915764PDE6Bc.1483G>C (p.Gly495Arg)
c.646G>C (p.Gly216Arg)
c.1702G>C (p.Gly568Arg)
c.688G>C (p.Gly230Arg)
c.412G>C (p.Gly138Arg)
c.328G>C (p.Gly110Arg)
 dbSNP gnomAD v4
4g.660482G=CA1432855078PDE6Bc.1483G= (p.Gly495=)
c.646G= (p.Gly216=)
c.1702G= (p.Gly568=)
c.688G= (p.Gly230=)
c.412G= (p.Gly138=)
c.328G= (p.Gly110=)
4g.660482G>TCA355915766PDE6Bc.1483G>T (p.Gly495Trp)
c.646G>T (p.Gly216Trp)
c.1702G>T (p.Gly568Trp)
c.688G>T (p.Gly230Trp)
c.412G>T (p.Gly138Trp)
c.328G>T (p.Gly110Trp)
4g.660484dupCA645509144PDE6Bc.1485dup (p.Pro496AlafsTer5)
c.648dup (p.Pro217AlafsTer5)
c.1704dup (p.Pro569AlafsTer5)
c.690dup (p.Pro231AlafsTer5)
c.414dup (p.Pro139AlafsTer5)
c.330dup (p.Pro111AlafsTer5)
 ClinVar dbSNP gnomAD v3 gnomAD v4
4g.660483G>ACA355915768PDE6Bc.1484G>A (p.Gly495Glu)
c.647G>A (p.Gly216Glu)
c.1703G>A (p.Gly568Glu)
c.689G>A (p.Gly230Glu)
c.413G>A (p.Gly138Glu)
c.329G>A (p.Gly110Glu)
 gnomAD v4
4g.660483G>CCA355915770PDE6Bc.1484G>C (p.Gly495Ala)
c.647G>C (p.Gly216Ala)
c.1703G>C (p.Gly568Ala)
c.689G>C (p.Gly230Ala)
c.413G>C (p.Gly138Ala)
c.329G>C (p.Gly110Ala)
4g.660483G>TCA355915771PDE6Bc.1484G>T (p.Gly495Val)
c.647G>T (p.Gly216Val)
c.1703G>T (p.Gly568Val)
c.689G>T (p.Gly230Val)
c.413G>T (p.Gly138Val)
c.329G>T (p.Gly110Val)
 COSMIC
4g.660484G>ACA437897666PDE6Bc.1485G>A (p.Gly495=)
c.648G>A (p.Gly216=)
c.1704G>A (p.Gly568=)
c.690G>A (p.Gly230=)
c.414G>A (p.Gly138=)
c.330G>A (p.Gly110=)
 dbSNP gnomAD v2 gnomAD v4
4g.660484G>CCA437897667PDE6Bc.1485G>C (p.Gly495=)
c.648G>C (p.Gly216=)
c.1704G>C (p.Gly568=)
c.690G>C (p.Gly230=)
c.414G>C (p.Gly138=)
c.330G>C (p.Gly110=)
4g.660484G=CA1432855083PDE6Bc.1485G= (p.Gly495=)
c.648G= (p.Gly216=)
c.1704G= (p.Gly568=)
c.690G= (p.Gly230=)
c.414G= (p.Gly138=)
c.330G= (p.Gly110=)
4g.660484G>TCA437897668PDE6Bc.1485G>T (p.Gly495=)
c.648G>T (p.Gly216=)
c.1704G>T (p.Gly568=)
c.690G>T (p.Gly230=)
c.414G>T (p.Gly138=)
c.330G>T (p.Gly110=)
4g.660484_660485delinsGCCA1432855082PDE6Bc.1485_1486delinsGC (p.Gly495=)
c.648_649delinsGC (p.Gly216=)
c.1704_1705delinsGC (p.Gly568=)
c.690_691delinsGC (p.Gly230=)
c.414_415delinsGC (p.Gly138=)
c.330_331delinsGC (p.Gly110=)
4g.660485C>ACA355915777PDE6Bc.1486C>A (p.Pro496Thr)
c.649C>A (p.Pro217Thr)
c.1705C>A (p.Pro569Thr)
c.691C>A (p.Pro231Thr)
c.415C>A (p.Pro139Thr)
c.331C>A (p.Pro111Thr)
4g.660485C>GCA355915776PDE6Bc.1486C>G (p.Pro496Ala)
c.649C>G (p.Pro217Ala)
c.1705C>G (p.Pro569Ala)
c.691C>G (p.Pro231Ala)
c.415C>G (p.Pro139Ala)
c.331C>G (p.Pro111Ala)
4g.660485C>TCA355915774PDE6Bc.1486C>T (p.Pro496Ser)
c.649C>T (p.Pro217Ser)
c.1705C>T (p.Pro569Ser)
c.691C>T (p.Pro231Ser)
c.415C>T (p.Pro139Ser)
c.331C>T (p.Pro111Ser)
4g.660487dupCA549125566PDE6Bc.1488dup (p.Thr497HisfsTer4)
c.651dup (p.Thr218HisfsTer4)
c.1707dup (p.Thr570HisfsTer4)
c.693dup (p.Thr232HisfsTer4)
c.417dup (p.Thr140HisfsTer4)
c.333dup (p.Thr112HisfsTer4)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.660487delCA256719PDE6Bc.1488del (p.Thr497ProfsTer?)
c.651del (p.Thr218ProfsTer?)
c.1707del (p.Thr570ProfsTer?)
c.693del (p.Thr232ProfsTer?)
c.417del (p.Thr140ProfsTer?)
c.333del (p.Thr112ProfsTer?)
 ClinVar dbSNP gnomAD v4
4g.660485_660488delinsCCCACA1432855088PDE6Bc.1486_1489delinsCCCA (p.Pro496=)
c.649_652delinsCCCA (p.Pro217=)
c.1705_1708delinsCCCA (p.Pro569=)
c.691_694delinsCCCA (p.Pro231=)
c.415_418delinsCCCA (p.Pro139=)
c.331_334delinsCCCA (p.Pro111=)
4g.660486C>ACA355915780PDE6Bc.1487C>A (p.Pro496His)
c.650C>A (p.Pro217His)
c.1706C>A (p.Pro569His)
c.692C>A (p.Pro231His)
c.416C>A (p.Pro139His)
c.332C>A (p.Pro111His)
4g.660486C>GCA355915781PDE6Bc.1487C>G (p.Pro496Arg)
c.650C>G (p.Pro217Arg)
c.1706C>G (p.Pro569Arg)
c.692C>G (p.Pro231Arg)
c.416C>G (p.Pro139Arg)
c.332C>G (p.Pro111Arg)
4g.660486C>TCA355915783PDE6Bc.1487C>T (p.Pro496Leu)
c.650C>T (p.Pro217Leu)
c.1706C>T (p.Pro569Leu)
c.692C>T (p.Pro231Leu)
c.416C>T (p.Pro139Leu)
c.332C>T (p.Pro111Leu)
4g.660490_660492delCA658822823PDE6Bc.1491_1493del (p.Thr498del)
c.654_656del (p.Thr219del)
c.1710_1712del (p.Thr571del)
c.696_698del (p.Thr233del)
c.420_422del (p.Thr141del)
c.336_338del (p.Thr113del)
 ClinVar dbSNP gnomAD v4
4g.660487C>ACA91087353PDE6Bc.1488C>A (p.Pro496=)
c.651C>A (p.Pro217=)
c.1707C>A (p.Pro569=)
c.693C>A (p.Pro231=)
c.417C>A (p.Pro139=)
c.333C>A (p.Pro111=)
 dbSNP
4g.660487C=CA1432855098PDE6Bc.1488C= (p.Pro496=)
c.651C= (p.Pro217=)
c.1707C= (p.Pro569=)
c.693C= (p.Pro231=)
c.417C= (p.Pro139=)
c.333C= (p.Pro111=)
4g.660487C>GCA437897670PDE6Bc.1488C>G (p.Pro496=)
c.651C>G (p.Pro217=)
c.1707C>G (p.Pro569=)
c.693C>G (p.Pro231=)
c.417C>G (p.Pro139=)
c.333C>G (p.Pro111=)
4g.660487C>TCA437897671PDE6Bc.1488C>T (p.Pro496=)
c.651C>T (p.Pro217=)
c.1707C>T (p.Pro569=)
c.693C>T (p.Pro231=)
c.417C>T (p.Pro139=)
c.333C>T (p.Pro111=)
 dbSNP gnomAD v2 gnomAD v4
4g.660488A>CCA355915786PDE6Bc.1489A>C (p.Thr497Pro)
c.652A>C (p.Thr218Pro)
c.1708A>C (p.Thr570Pro)
c.694A>C (p.Thr232Pro)
c.418A>C (p.Thr140Pro)
c.334A>C (p.Thr112Pro)
4g.660488A>GCA355915787PDE6Bc.1489A>G (p.Thr497Ala)
c.652A>G (p.Thr218Ala)
c.1708A>G (p.Thr570Ala)
c.694A>G (p.Thr232Ala)
c.418A>G (p.Thr140Ala)
c.334A>G (p.Thr112Ala)
4g.660488A>TCA355915789PDE6Bc.1489A>T (p.Thr497Ser)
c.652A>T (p.Thr218Ser)
c.1708A>T (p.Thr570Ser)
c.694A>T (p.Thr232Ser)
c.418A>T (p.Thr140Ser)
c.334A>T (p.Thr112Ser)
4g.660489C>ACA355915791PDE6Bc.1490C>A (p.Thr497Asn)
c.653C>A (p.Thr218Asn)
c.1709C>A (p.Thr570Asn)
c.695C>A (p.Thr232Asn)
c.419C>A (p.Thr140Asn)
c.335C>A (p.Thr112Asn)
4g.660489C>GCA355915793PDE6Bc.1490C>G (p.Thr497Ser)
c.653C>G (p.Thr218Ser)
c.1709C>G (p.Thr570Ser)
c.695C>G (p.Thr232Ser)
c.419C>G (p.Thr140Ser)
c.335C>G (p.Thr112Ser)
 COSMIC
4g.660489C>TCA355915795PDE6Bc.1490C>T (p.Thr497Ile)
c.653C>T (p.Thr218Ile)
c.1709C>T (p.Thr570Ile)
c.695C>T (p.Thr232Ile)
c.419C>T (p.Thr140Ile)
c.335C>T (p.Thr112Ile)
 COSMIC
4g.660490C>ACA437897673PDE6Bc.1491C>A (p.Thr497=)
c.654C>A (p.Thr218=)
c.1710C>A (p.Thr570=)
c.696C>A (p.Thr232=)
c.420C>A (p.Thr140=)
c.336C>A (p.Thr112=)
4g.660490C=CA1432855110PDE6Bc.1491C= (p.Thr497=)
c.654C= (p.Thr218=)
c.1710C= (p.Thr570=)
c.696C= (p.Thr232=)
c.420C= (p.Thr140=)
c.336C= (p.Thr112=)
4g.660490C>GCA437897674PDE6Bc.1491C>G (p.Thr497=)
c.654C>G (p.Thr218=)
c.1710C>G (p.Thr570=)
c.696C>G (p.Thr232=)
c.420C>G (p.Thr140=)
c.336C>G (p.Thr112=)
4g.660490C>TCA2794556PDE6Bc.1491C>T (p.Thr497=)
c.654C>T (p.Thr218=)
c.1710C>T (p.Thr570=)
c.696C>T (p.Thr232=)
c.420C>T (p.Thr140=)
c.336C>T (p.Thr112=)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.660491A=CA1432855111PDE6Bc.1492A= (p.Thr498=)
c.655A= (p.Thr219=)
c.1711A= (p.Thr571=)
c.697A= (p.Thr233=)
c.421A= (p.Thr141=)
c.337A= (p.Thr113=)
4g.660491A>CCA355915801PDE6Bc.1492A>C (p.Thr498Pro)
c.655A>C (p.Thr219Pro)
c.1711A>C (p.Thr571Pro)
c.697A>C (p.Thr233Pro)
c.421A>C (p.Thr141Pro)
c.337A>C (p.Thr113Pro)
4g.660491A>GCA355915799PDE6Bc.1492A>G (p.Thr498Ala)
c.655A>G (p.Thr219Ala)
c.1711A>G (p.Thr571Ala)
c.697A>G (p.Thr233Ala)
c.421A>G (p.Thr141Ala)
c.337A>G (p.Thr113Ala)
 gnomAD v4
4g.660491A>TCA2794557PDE6Bc.1492A>T (p.Thr498Ser)
c.655A>T (p.Thr219Ser)
c.1711A>T (p.Thr571Ser)
c.697A>T (p.Thr233Ser)
c.421A>T (p.Thr141Ser)
c.337A>T (p.Thr113Ser)
 dbSNP ExAC gnomAD v2
4g.660492C>ACA355915802PDE6Bc.1493C>A (p.Thr498Lys)
c.656C>A (p.Thr219Lys)
c.1712C>A (p.Thr571Lys)
c.698C>A (p.Thr233Lys)
c.422C>A (p.Thr141Lys)
c.338C>A (p.Thr113Lys)
4g.660492C=CA1432855115PDE6Bc.1493C= (p.Thr498=)
c.656C= (p.Thr219=)
c.1712C= (p.Thr571=)
c.698C= (p.Thr233=)
c.422C= (p.Thr141=)
c.338C= (p.Thr113=)
4g.660492C>GCA2794558PDE6Bc.1493C>G (p.Thr498Arg)
c.656C>G (p.Thr219Arg)
c.1712C>G (p.Thr571Arg)
c.698C>G (p.Thr233Arg)
c.422C>G (p.Thr141Arg)
c.338C>G (p.Thr113Arg)
 dbSNP ExAC gnomAD v2
4g.660492C>TCA2794559PDE6Bc.1493C>T (p.Thr498Ile)
c.656C>T (p.Thr219Ile)
c.1712C>T (p.Thr571Ile)
c.698C>T (p.Thr233Ile)
c.422C>T (p.Thr141Ile)
c.338C>T (p.Thr113Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.660493A=CA1432855124PDE6Bc.1494A= (p.Thr498=)
c.657A= (p.Thr219=)
c.1713A= (p.Thr571=)
c.699A= (p.Thr233=)
c.423A= (p.Thr141=)
c.339A= (p.Thr113=)
4g.660493A>CCA437897676PDE6Bc.1494A>C (p.Thr498=)
c.657A>C (p.Thr219=)
c.1713A>C (p.Thr571=)
c.699A>C (p.Thr233=)
c.423A>C (p.Thr141=)
c.339A>C (p.Thr113=)
4g.660493A>GCA2794560PDE6Bc.1494A>G (p.Thr498=)
c.657A>G (p.Thr219=)
c.1713A>G (p.Thr571=)
c.699A>G (p.Thr233=)
c.423A>G (p.Thr141=)
c.339A>G (p.Thr113=)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.660493A>TCA437897677PDE6Bc.1494A>T (p.Thr498=)
c.657A>T (p.Thr219=)
c.1713A>T (p.Thr571=)
c.699A>T (p.Thr233=)
c.423A>T (p.Thr141=)
c.339A>T (p.Thr113=)
4g.660494T>ACA355915806PDE6Bc.1495T>A (p.Phe499Ile)
c.658T>A (p.Phe220Ile)
c.1714T>A (p.Phe572Ile)
c.700T>A (p.Phe234Ile)
c.424T>A (p.Phe142Ile)
c.340T>A (p.Phe114Ile)
4g.660494T>CCA355915807PDE6Bc.1495T>C (p.Phe499Leu)
c.658T>C (p.Phe220Leu)
c.1714T>C (p.Phe572Leu)
c.700T>C (p.Phe234Leu)
c.424T>C (p.Phe142Leu)
c.340T>C (p.Phe114Leu)
4g.660494T>GCA355915809PDE6Bc.1495T>G (p.Phe499Val)
c.658T>G (p.Phe220Val)
c.1714T>G (p.Phe572Val)
c.700T>G (p.Phe234Val)
c.424T>G (p.Phe142Val)
c.340T>G (p.Phe114Val)
4g.660495T>ACA355915811PDE6Bc.1496T>A (p.Phe499Tyr)
c.659T>A (p.Phe220Tyr)
c.1715T>A (p.Phe572Tyr)
c.701T>A (p.Phe234Tyr)
c.425T>A (p.Phe142Tyr)
c.341T>A (p.Phe114Tyr)
4g.660495T>CCA355915814PDE6Bc.1496T>C (p.Phe499Ser)
c.659T>C (p.Phe220Ser)
c.1715T>C (p.Phe572Ser)
c.701T>C (p.Phe234Ser)
c.425T>C (p.Phe142Ser)
c.341T>C (p.Phe114Ser)
4g.660495T>GCA355915815PDE6Bc.1496T>G (p.Phe499Cys)
c.659T>G (p.Phe220Cys)
c.1715T>G (p.Phe572Cys)
c.701T>G (p.Phe234Cys)
c.425T>G (p.Phe142Cys)
c.341T>G (p.Phe114Cys)
4g.660496T>ACA355915817PDE6Bc.1497T>A (p.Phe499Leu)
c.660T>A (p.Phe220Leu)
c.1716T>A (p.Phe572Leu)
c.702T>A (p.Phe234Leu)
c.426T>A (p.Phe142Leu)
c.342T>A (p.Phe114Leu)
4g.660496T>CCA437897681PDE6Bc.1497T>C (p.Phe499=)
c.660T>C (p.Phe220=)
c.1716T>C (p.Phe572=)
c.702T>C (p.Phe234=)
c.426T>C (p.Phe142=)
c.342T>C (p.Phe114=)
4g.660496T>GCA2794561PDE6Bc.1497T>G (p.Phe499Leu)
c.660T>G (p.Phe220Leu)
c.1716T>G (p.Phe572Leu)
c.702T>G (p.Phe234Leu)
c.426T>G (p.Phe142Leu)
c.342T>G (p.Phe114Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.660496T=CA1432855134PDE6Bc.1497T= (p.Phe499=)
c.660T= (p.Phe220=)
c.1716T= (p.Phe572=)
c.702T= (p.Phe234=)
c.426T= (p.Phe142=)
c.342T= (p.Phe114=)
4g.660497G>ACA355915821PDE6Bc.1498G>A (p.Asp500Asn)
c.661G>A (p.Asp221Asn)
c.1717G>A (p.Asp573Asn)
c.703G>A (p.Asp235Asn)
c.427G>A (p.Asp143Asn)
c.343G>A (p.Asp115Asn)
4g.660497G>CCA355915823PDE6Bc.1498G>C (p.Asp500His)
c.661G>C (p.Asp221His)
c.1717G>C (p.Asp573His)
c.703G>C (p.Asp235His)
c.427G>C (p.Asp143His)
c.343G>C (p.Asp115His)
 ClinVar dbSNP gnomAD v2 gnomAD v4
4g.660497G=CA1432855137PDE6Bc.1498G= (p.Asp500=)
c.661G= (p.Asp221=)
c.1717G= (p.Asp573=)
c.703G= (p.Asp235=)
c.427G= (p.Asp143=)
c.343G= (p.Asp115=)
4g.660497G>TCA355915820PDE6Bc.1498G>T (p.Asp500Tyr)
c.661G>T (p.Asp221Tyr)
c.1717G>T (p.Asp573Tyr)
c.703G>T (p.Asp235Tyr)
c.427G>T (p.Asp143Tyr)
c.343G>T (p.Asp115Tyr)
 ClinVar dbSNP
4g.660498A=CA1432855139PDE6Bc.1499A= (p.Asp500=)
c.662A= (p.Asp221=)
c.1718A= (p.Asp573=)
c.704A= (p.Asp235=)
c.428A= (p.Asp143=)
c.344A= (p.Asp115=)
4g.660498A>CCA355915825PDE6Bc.1499A>C (p.Asp500Ala)
c.662A>C (p.Asp221Ala)
c.1718A>C (p.Asp573Ala)
c.704A>C (p.Asp235Ala)
c.428A>C (p.Asp143Ala)
c.344A>C (p.Asp115Ala)
4g.660498A>GCA355915827PDE6Bc.1499A>G (p.Asp500Gly)
c.662A>G (p.Asp221Gly)
c.1718A>G (p.Asp573Gly)
c.704A>G (p.Asp235Gly)
c.428A>G (p.Asp143Gly)
c.344A>G (p.Asp115Gly)
4g.660498A>TCA2794562PDE6Bc.1499A>T (p.Asp500Val)
c.662A>T (p.Asp221Val)
c.1718A>T (p.Asp573Val)
c.704A>T (p.Asp235Val)
c.428A>T (p.Asp143Val)
c.344A>T (p.Asp115Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.660499C>ACA355915830PDE6Bc.1500C>A (p.Asp500Glu)
c.663C>A (p.Asp221Glu)
c.1719C>A (p.Asp573Glu)
c.705C>A (p.Asp235Glu)
c.429C>A (p.Asp143Glu)
c.345C>A (p.Asp115Glu)
 gnomAD v4
4g.660499C>GCA355915834PDE6Bc.1500C>G (p.Asp500Glu)
c.663C>G (p.Asp221Glu)
c.1719C>G (p.Asp573Glu)
c.705C>G (p.Asp235Glu)
c.429C>G (p.Asp143Glu)
c.345C>G (p.Asp115Glu)
4g.660499C>TCA437897683PDE6Bc.1500C>T (p.Asp500=)
c.663C>T (p.Asp221=)
c.1719C>T (p.Asp573=)
c.705C>T (p.Asp235=)
c.429C>T (p.Asp143=)
c.345C>T (p.Asp115=)
4g.660500A=CA1432855144PDE6Bc.1501A= (p.Ile501=)
c.664A= (p.Ile222=)
c.1720A= (p.Ile574=)
c.706A= (p.Ile236=)
c.430A= (p.Ile144=)
c.346A= (p.Ile116=)
4g.660500A>CCA355915840PDE6Bc.1501A>C (p.Ile501Leu)
c.664A>C (p.Ile222Leu)
c.1720A>C (p.Ile574Leu)
c.706A>C (p.Ile236Leu)
c.430A>C (p.Ile144Leu)
c.346A>C (p.Ile116Leu)
 dbSNP
4g.660500A>GCA2794563PDE6Bc.1501A>G (p.Ile501Val)
c.664A>G (p.Ile222Val)
c.1720A>G (p.Ile574Val)
c.706A>G (p.Ile236Val)
c.430A>G (p.Ile144Val)
c.346A>G (p.Ile116Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.660500A>TCA355915838PDE6Bc.1501A>T (p.Ile501Phe)
c.664A>T (p.Ile222Phe)
c.1720A>T (p.Ile574Phe)
c.706A>T (p.Ile236Phe)
c.430A>T (p.Ile144Phe)
c.346A>T (p.Ile116Phe)
4g.660501T>ACA355915842PDE6Bc.1502T>A (p.Ile501Asn)
c.665T>A (p.Ile222Asn)
c.1721T>A (p.Ile574Asn)
c.707T>A (p.Ile236Asn)
c.431T>A (p.Ile144Asn)
c.347T>A (p.Ile116Asn)
4g.660501T>CCA355915844PDE6Bc.1502T>C (p.Ile501Thr)
c.665T>C (p.Ile222Thr)
c.1721T>C (p.Ile574Thr)
c.707T>C (p.Ile236Thr)
c.431T>C (p.Ile144Thr)
c.347T>C (p.Ile116Thr)
 dbSNP
4g.660501T>GCA355915845PDE6Bc.1502T>G (p.Ile501Ser)
c.665T>G (p.Ile222Ser)
c.1721T>G (p.Ile574Ser)
c.707T>G (p.Ile236Ser)
c.431T>G (p.Ile144Ser)
c.347T>G (p.Ile116Ser)
4g.660501T=CA1432855151PDE6Bc.1502T= (p.Ile501=)
c.665T= (p.Ile222=)
c.1721T= (p.Ile574=)
c.707T= (p.Ile236=)
c.431T= (p.Ile144=)
c.347T= (p.Ile116=)
4g.660502C>ACA437897687PDE6Bc.1503C>A (p.Ile501=)
c.666C>A (p.Ile222=)
c.1722C>A (p.Ile574=)
c.708C>A (p.Ile236=)
c.432C>A (p.Ile144=)
c.348C>A (p.Ile116=)
4g.660502C=CA1432855159PDE6Bc.1503C= (p.Ile501=)
c.666C= (p.Ile222=)
c.1722C= (p.Ile574=)
c.708C= (p.Ile236=)
c.432C= (p.Ile144=)
c.348C= (p.Ile116=)
4g.660502C>GCA355915848PDE6Bc.1503C>G (p.Ile501Met)
c.666C>G (p.Ile222Met)
c.1722C>G (p.Ile574Met)
c.708C>G (p.Ile236Met)
c.432C>G (p.Ile144Met)
c.348C>G (p.Ile116Met)
4g.660502C>TCA2794564PDE6Bc.1503C>T (p.Ile501=)
c.666C>T (p.Ile222=)
c.1722C>T (p.Ile574=)
c.708C>T (p.Ile236=)
c.432C>T (p.Ile144=)
c.348C>T (p.Ile116=)
 dbSNP ExAC gnomAD v2
4g.660503T>ACA355915855PDE6Bc.1504T>A (p.Tyr502Asn)
c.667T>A (p.Tyr223Asn)
c.1723T>A (p.Tyr575Asn)
c.709T>A (p.Tyr237Asn)
c.433T>A (p.Tyr145Asn)
c.349T>A (p.Tyr117Asn)
4g.660503T>CCA355915854PDE6Bc.1504T>C (p.Tyr502His)
c.667T>C (p.Tyr223His)
c.1723T>C (p.Tyr575His)
c.709T>C (p.Tyr237His)
c.433T>C (p.Tyr145His)
c.349T>C (p.Tyr117His)
4g.660503T>GCA355915852PDE6Bc.1504T>G (p.Tyr502Asp)
c.667T>G (p.Tyr223Asp)
c.1723T>G (p.Tyr575Asp)
c.709T>G (p.Tyr237Asp)
c.433T>G (p.Tyr145Asp)
c.349T>G (p.Tyr117Asp)
4g.660504A>CCA355915857PDE6Bc.1505A>C (p.Tyr502Ser)
c.668A>C (p.Tyr223Ser)
c.1724A>C (p.Tyr575Ser)
c.710A>C (p.Tyr237Ser)
c.434A>C (p.Tyr145Ser)
c.350A>C (p.Tyr117Ser)
4g.660504A>GCA355915861PDE6Bc.1505A>G (p.Tyr502Cys)
c.668A>G (p.Tyr223Cys)
c.1724A>G (p.Tyr575Cys)
c.710A>G (p.Tyr237Cys)
c.434A>G (p.Tyr145Cys)
c.350A>G (p.Tyr117Cys)
 ClinVar dbSNP
4g.660504A>TCA355915859PDE6Bc.1505A>T (p.Tyr502Phe)
c.668A>T (p.Tyr223Phe)
c.1724A>T (p.Tyr575Phe)
c.710A>T (p.Tyr237Phe)
c.434A>T (p.Tyr145Phe)
c.350A>T (p.Tyr117Phe)
 gnomAD v4
4g.660505C>ACA355915862PDE6Bc.1506C>A (p.Tyr502Ter)
c.669C>A (p.Tyr223Ter)
c.1725C>A (p.Tyr575Ter)
c.711C>A (p.Tyr237Ter)
c.435C>A (p.Tyr145Ter)
c.351C>A (p.Tyr117Ter)
4g.660505C=CA1432855166PDE6Bc.1506C= (p.Tyr502=)
c.669C= (p.Tyr223=)
c.1725C= (p.Tyr575=)
c.711C= (p.Tyr237=)
c.435C= (p.Tyr145=)
c.351C= (p.Tyr117=)
4g.660505C>GCA355915863PDE6Bc.1506C>G (p.Tyr502Ter)
c.669C>G (p.Tyr223Ter)
c.1725C>G (p.Tyr575Ter)
c.711C>G (p.Tyr237Ter)
c.435C>G (p.Tyr145Ter)
c.351C>G (p.Tyr117Ter)
 dbSNP gnomAD v4
4g.660505C>TCA2794565PDE6Bc.1506C>T (p.Tyr502=)
c.669C>T (p.Tyr223=)
c.1725C>T (p.Tyr575=)
c.711C>T (p.Tyr237=)
c.435C>T (p.Tyr145=)
c.351C>T (p.Tyr117=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
4g.660506G>ACA2794566PDE6Bc.1507G>A (p.Glu503Lys)
c.670G>A (p.Glu224Lys)
c.1726G>A (p.Glu576Lys)
c.712G>A (p.Glu238Lys)
c.436G>A (p.Glu146Lys)
c.352G>A (p.Glu118Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
4g.660506G>CCA355915883PDE6Bc.1507G>C (p.Glu503Gln)
c.670G>C (p.Glu224Gln)
c.1726G>C (p.Glu576Gln)
c.712G>C (p.Glu238Gln)
c.436G>C (p.Glu146Gln)
c.352G>C (p.Glu118Gln)
 ClinVar dbSNP
4g.660506G=CA1432855177PDE6Bc.1507G= (p.Glu503=)
c.670G= (p.Glu224=)
c.1726G= (p.Glu576=)
c.712G= (p.Glu238=)
c.436G= (p.Glu146=)
c.352G= (p.Glu118=)
4g.660506G>TCA355915886PDE6Bc.1507G>T (p.Glu503Ter)
c.670G>T (p.Glu224Ter)
c.1726G>T (p.Glu576Ter)
c.712G>T (p.Glu238Ter)
c.436G>T (p.Glu146Ter)
c.352G>T (p.Glu118Ter)
4g.660507A>CCA355915888PDE6Bc.1508A>C (p.Glu503Ala)
c.671A>C (p.Glu224Ala)
c.1727A>C (p.Glu576Ala)
c.713A>C (p.Glu238Ala)
c.437A>C (p.Glu146Ala)
c.353A>C (p.Glu118Ala)
4g.660507A>GCA355915890PDE6Bc.1508A>G (p.Glu503Gly)
c.671A>G (p.Glu224Gly)
c.1727A>G (p.Glu576Gly)
c.713A>G (p.Glu238Gly)
c.437A>G (p.Glu146Gly)
c.353A>G (p.Glu118Gly)
4g.660507A>TCA355915891PDE6Bc.1508A>T (p.Glu503Val)
c.671A>T (p.Glu224Val)
c.1727A>T (p.Glu576Val)
c.713A>T (p.Glu238Val)
c.437A>T (p.Glu146Val)
c.353A>T (p.Glu118Val)
 gnomAD v4
4g.660508A=CA1432855186PDE6Bc.1509A= (p.Glu503=)
c.672A= (p.Glu224=)
c.1728A= (p.Glu576=)
c.714A= (p.Glu238=)
c.438A= (p.Glu146=)
c.354A= (p.Glu118=)
4g.660508A>CCA355915892PDE6Bc.1509A>C (p.Glu503Asp)
c.672A>C (p.Glu224Asp)
c.1728A>C (p.Glu576Asp)
c.714A>C (p.Glu238Asp)
c.438A>C (p.Glu146Asp)
c.354A>C (p.Glu118Asp)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.660508A>GCA437897691PDE6Bc.1509A>G (p.Glu503=)
c.672A>G (p.Glu224=)
c.1728A>G (p.Glu576=)
c.714A>G (p.Glu238=)
c.438A>G (p.Glu146=)
c.354A>G (p.Glu118=)
4g.660508A>TCA355915894PDE6Bc.1509A>T (p.Glu503Asp)
c.672A>T (p.Glu224Asp)
c.1728A>T (p.Glu576Asp)
c.714A>T (p.Glu238Asp)
c.438A>T (p.Glu146Asp)
c.354A>T (p.Glu118Asp)
4g.660509T>ACA355915897PDE6Bc.1510T>A (p.Phe504Ile)
c.673T>A (p.Phe225Ile)
c.1729T>A (p.Phe577Ile)
c.715T>A (p.Phe239Ile)
c.439T>A (p.Phe147Ile)
c.355T>A (p.Phe119Ile)
4g.660509T>CCA355915898PDE6Bc.1510T>C (p.Phe504Leu)
c.673T>C (p.Phe225Leu)
c.1729T>C (p.Phe577Leu)
c.715T>C (p.Phe239Leu)
c.439T>C (p.Phe147Leu)
c.355T>C (p.Phe119Leu)
4g.660509T>GCA355915901PDE6Bc.1510T>G (p.Phe504Val)
c.673T>G (p.Phe225Val)
c.1729T>G (p.Phe577Val)
c.715T>G (p.Phe239Val)
c.439T>G (p.Phe147Val)
c.355T>G (p.Phe119Val)
4g.660510T>ACA355915906PDE6Bc.1511T>A (p.Phe504Tyr)
c.674T>A (p.Phe225Tyr)
c.1730T>A (p.Phe577Tyr)
c.716T>A (p.Phe239Tyr)
c.440T>A (p.Phe147Tyr)
c.356T>A (p.Phe119Tyr)
4g.660510T>CCA355915903PDE6Bc.1511T>C (p.Phe504Ser)
c.674T>C (p.Phe225Ser)
c.1730T>C (p.Phe577Ser)
c.716T>C (p.Phe239Ser)
c.440T>C (p.Phe147Ser)
c.356T>C (p.Phe119Ser)
4g.660510T>GCA355915905PDE6Bc.1511T>G (p.Phe504Cys)
c.674T>G (p.Phe225Cys)
c.1730T>G (p.Phe577Cys)
c.716T>G (p.Phe239Cys)
c.440T>G (p.Phe147Cys)
c.356T>G (p.Phe119Cys)
4g.660511C>ACA355915909PDE6Bc.1512C>A (p.Phe504Leu)
c.675C>A (p.Phe225Leu)
c.1731C>A (p.Phe577Leu)
c.717C>A (p.Phe239Leu)
c.441C>A (p.Phe147Leu)
c.357C>A (p.Phe119Leu)
4g.660511C=CA1432855196PDE6Bc.1512C= (p.Phe504=)
c.675C= (p.Phe225=)
c.1731C= (p.Phe577=)
c.717C= (p.Phe239=)
c.441C= (p.Phe147=)
c.357C= (p.Phe119=)
4g.660511C>GCA355915912PDE6Bc.1512C>G (p.Phe504Leu)
c.675C>G (p.Phe225Leu)
c.1731C>G (p.Phe577Leu)
c.717C>G (p.Phe239Leu)
c.441C>G (p.Phe147Leu)
c.357C>G (p.Phe119Leu)
 dbSNP gnomAD v2
4g.660511C>TCA437897693PDE6Bc.1512C>T (p.Phe504=)
c.675C>T (p.Phe225=)
c.1731C>T (p.Phe577=)
c.717C>T (p.Phe239=)
c.441C>T (p.Phe147=)
c.357C>T (p.Phe119=)
 COSMIC
4g.660512C>ACA355915915PDE6Bc.1513C>A (p.His505Asn)
c.676C>A (p.His226Asn)
c.1732C>A (p.His578Asn)
c.718C>A (p.His240Asn)
c.442C>A (p.His148Asn)
c.358C>A (p.His120Asn)
4g.660512C=CA1432855200PDE6Bc.1513C= (p.His505=)
c.676C= (p.His226=)
c.1732C= (p.His578=)
c.718C= (p.His240=)
c.442C= (p.His148=)
c.358C= (p.His120=)
4g.660512C>GCA355915918PDE6Bc.1513C>G (p.His505Asp)
c.676C>G (p.His226Asp)
c.1732C>G (p.His578Asp)
c.718C>G (p.His240Asp)
c.442C>G (p.His148Asp)
c.358C>G (p.His120Asp)
4g.660512C>TCA355915920PDE6Bc.1513C>T (p.His505Tyr)
c.676C>T (p.His226Tyr)
c.1732C>T (p.His578Tyr)
c.718C>T (p.His240Tyr)
c.442C>T (p.His148Tyr)
c.358C>T (p.His120Tyr)
 dbSNP gnomAD v2 gnomAD v4
4g.660513A>CCA355915923PDE6Bc.1514A>C (p.His505Pro)
c.677A>C (p.His226Pro)
c.1733A>C (p.His578Pro)
c.719A>C (p.His240Pro)
c.443A>C (p.His148Pro)
c.359A>C (p.His120Pro)
 ClinVar
4g.660513A>GCA355915924PDE6Bc.1514A>G (p.His505Arg)
c.677A>G (p.His226Arg)
c.1733A>G (p.His578Arg)
c.719A>G (p.His240Arg)
c.443A>G (p.His148Arg)
c.359A>G (p.His120Arg)
4g.660513A>TCA355915925PDE6Bc.1514A>T (p.His505Leu)
c.677A>T (p.His226Leu)
c.1733A>T (p.His578Leu)
c.719A>T (p.His240Leu)
c.443A>T (p.His148Leu)
c.359A>T (p.His120Leu)
4g.660514C>ACA355915926PDE6Bc.1515C>A (p.His505Gln)
c.678C>A (p.His226Gln)
c.1734C>A (p.His578Gln)
c.720C>A (p.His240Gln)
c.444C>A (p.His148Gln)
c.360C>A (p.His120Gln)
4g.660514C>GCA355915927PDE6Bc.1515C>G (p.His505Gln)
c.678C>G (p.His226Gln)
c.1734C>G (p.His578Gln)
c.720C>G (p.His240Gln)
c.444C>G (p.His148Gln)
c.360C>G (p.His120Gln)
4g.660514C>TCA437897695PDE6Bc.1515C>T (p.His505=)
c.678C>T (p.His226=)
c.1734C>T (p.His578=)
c.720C>T (p.His240=)
c.444C>T (p.His148=)
c.360C>T (p.His120=)
4g.660515T>ACA355915933PDE6Bc.1516T>A (p.Phe506Ile)
c.679T>A (p.Phe227Ile)
c.1735T>A (p.Phe579Ile)
c.721T>A (p.Phe241Ile)
c.445T>A (p.Phe149Ile)
c.361T>A (p.Phe121Ile)
4g.660515T>CCA355915934PDE6Bc.1516T>C (p.Phe506Leu)
c.679T>C (p.Phe227Leu)
c.1735T>C (p.Phe579Leu)
c.721T>C (p.Phe241Leu)
c.445T>C (p.Phe149Leu)
c.361T>C (p.Phe121Leu)
 dbSNP
4g.660515T>GCA355915929PDE6Bc.1516T>G (p.Phe506Val)
c.679T>G (p.Phe227Val)
c.1735T>G (p.Phe579Val)
c.721T>G (p.Phe241Val)
c.445T>G (p.Phe149Val)
c.361T>G (p.Phe121Val)
4g.660515T=CA1432855208PDE6Bc.1516T= (p.Phe506=)
c.679T= (p.Phe227=)
c.1735T= (p.Phe579=)
c.721T= (p.Phe241=)
c.445T= (p.Phe149=)
c.361T= (p.Phe121=)
4g.660516T>ACA355915935PDE6Bc.1517T>A (p.Phe506Tyr)
c.680T>A (p.Phe227Tyr)
c.1736T>A (p.Phe579Tyr)
c.722T>A (p.Phe241Tyr)
c.446T>A (p.Phe149Tyr)
c.362T>A (p.Phe121Tyr)
4g.660516T>CCA355915936PDE6Bc.1517T>C (p.Phe506Ser)
c.680T>C (p.Phe227Ser)
c.1736T>C (p.Phe579Ser)
c.722T>C (p.Phe241Ser)
c.446T>C (p.Phe149Ser)
c.362T>C (p.Phe121Ser)
4g.660516T>GCA355915937PDE6Bc.1517T>G (p.Phe506Cys)
c.680T>G (p.Phe227Cys)
c.1736T>G (p.Phe579Cys)
c.722T>G (p.Phe241Cys)
c.446T>G (p.Phe149Cys)
c.362T>G (p.Phe121Cys)
4g.660517C>ACA355915940PDE6Bc.1518C>A (p.Phe506Leu)
c.681C>A (p.Phe227Leu)
c.1737C>A (p.Phe579Leu)
c.723C>A (p.Phe241Leu)
c.447C>A (p.Phe149Leu)
c.363C>A (p.Phe121Leu)
 COSMIC
4g.660517C=CA1432855213PDE6Bc.1518C= (p.Phe506=)
c.681C= (p.Phe227=)
c.1737C= (p.Phe579=)
c.723C= (p.Phe241=)
c.447C= (p.Phe149=)
c.363C= (p.Phe121=)
4g.660517C>GCA355915943PDE6Bc.1518C>G (p.Phe506Leu)
c.681C>G (p.Phe227Leu)
c.1737C>G (p.Phe579Leu)
c.723C>G (p.Phe241Leu)
c.447C>G (p.Phe149Leu)
c.363C>G (p.Phe121Leu)
4g.660517C>TCA2794567PDE6Bc.1518C>T (p.Phe506=)
c.681C>T (p.Phe227=)
c.1737C>T (p.Phe579=)
c.723C>T (p.Phe241=)
c.447C>T (p.Phe149=)
c.363C>T (p.Phe121=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.660518T>ACA355915949PDE6Bc.1519T>A (p.Ser507Thr)
c.682T>A (p.Ser228Thr)
c.1738T>A (p.Ser580Thr)
c.724T>A (p.Ser242Thr)
c.448T>A (p.Ser150Thr)
c.364T>A (p.Ser122Thr)
4g.660518T>CCA355915951PDE6Bc.1519T>C (p.Ser507Pro)
c.682T>C (p.Ser228Pro)
c.1738T>C (p.Ser580Pro)
c.724T>C (p.Ser242Pro)
c.448T>C (p.Ser150Pro)
c.364T>C (p.Ser122Pro)
 gnomAD v4
4g.660518T>GCA355915954PDE6Bc.1519T>G (p.Ser507Ala)
c.682T>G (p.Ser228Ala)
c.1738T>G (p.Ser580Ala)
c.724T>G (p.Ser242Ala)
c.448T>G (p.Ser150Ala)
c.364T>G (p.Ser122Ala)
4g.660519C>ACA355915967PDE6Bc.1520C>A (p.Ser507Tyr)
c.683C>A (p.Ser228Tyr)
c.1739C>A (p.Ser580Tyr)
c.725C>A (p.Ser242Tyr)
c.449C>A (p.Ser150Tyr)
c.365C>A (p.Ser122Tyr)
4g.660519C>GCA355915970PDE6Bc.1520C>G (p.Ser507Cys)
c.683C>G (p.Ser228Cys)
c.1739C>G (p.Ser580Cys)
c.725C>G (p.Ser242Cys)
c.449C>G (p.Ser150Cys)
c.365C>G (p.Ser122Cys)
 gnomAD v4
4g.660519C>TCA355915972PDE6Bc.1520C>T (p.Ser507Phe)
c.683C>T (p.Ser228Phe)
c.1739C>T (p.Ser580Phe)
c.725C>T (p.Ser242Phe)
c.449C>T (p.Ser150Phe)
c.365C>T (p.Ser122Phe)
 gnomAD v4
4g.660520T>ACA437897700PDE6Bc.1521T>A (p.Ser507=)
c.684T>A (p.Ser228=)
c.1740T>A (p.Ser580=)
c.726T>A (p.Ser242=)
c.450T>A (p.Ser150=)
c.366T>A (p.Ser122=)
4g.660520T>CCA437897701PDE6Bc.1521T>C (p.Ser507=)
c.684T>C (p.Ser228=)
c.1740T>C (p.Ser580=)
c.726T>C (p.Ser242=)
c.450T>C (p.Ser150=)
c.366T>C (p.Ser122=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
4g.660520T>GCA437897702PDE6Bc.1521T>G (p.Ser507=)
c.684T>G (p.Ser228=)
c.1740T>G (p.Ser580=)
c.726T>G (p.Ser242=)
c.450T>G (p.Ser150=)
c.366T>G (p.Ser122=)
4g.660520T=CA1432855222PDE6Bc.1521T= (p.Ser507=)
c.684T= (p.Ser228=)
c.1740T= (p.Ser580=)
c.726T= (p.Ser242=)
c.450T= (p.Ser150=)
c.366T= (p.Ser122=)
4g.660521G>ACA355915987PDE6Bc.1522G>A (p.Asp508Asn)
c.685G>A (p.Asp229Asn)
c.1741G>A (p.Asp581Asn)
c.727G>A (p.Asp243Asn)
c.451G>A (p.Asp151Asn)
c.367G>A (p.Asp123Asn)
 dbSNP gnomAD v2 gnomAD v4
4g.660521G>CCA355915981PDE6Bc.1522G>C (p.Asp508His)
c.685G>C (p.Asp229His)
c.1741G>C (p.Asp581His)
c.727G>C (p.Asp243His)
c.451G>C (p.Asp151His)
c.367G>C (p.Asp123His)
4g.660521G=CA1432855224PDE6Bc.1522G= (p.Asp508=)
c.685G= (p.Asp229=)
c.1741G= (p.Asp581=)
c.727G= (p.Asp243=)
c.451G= (p.Asp151=)
c.367G= (p.Asp123=)
4g.660521G>TCA355915984PDE6Bc.1522G>T (p.Asp508Tyr)
c.685G>T (p.Asp229Tyr)
c.1741G>T (p.Asp581Tyr)
c.727G>T (p.Asp243Tyr)
c.451G>T (p.Asp151Tyr)
c.367G>T (p.Asp123Tyr)
4g.660522A>CCA355915991PDE6Bc.1523A>C (p.Asp508Ala)
c.686A>C (p.Asp229Ala)
c.1742A>C (p.Asp581Ala)
c.728A>C (p.Asp243Ala)
c.452A>C (p.Asp151Ala)
c.368A>C (p.Asp123Ala)
4g.660522A>GCA355915993PDE6Bc.1523A>G (p.Asp508Gly)
c.686A>G (p.Asp229Gly)
c.1742A>G (p.Asp581Gly)
c.728A>G (p.Asp243Gly)
c.452A>G (p.Asp151Gly)
c.368A>G (p.Asp123Gly)
4g.660522A>TCA355915995PDE6Bc.1523A>T (p.Asp508Val)
c.686A>T (p.Asp229Val)
c.1742A>T (p.Asp581Val)
c.728A>T (p.Asp243Val)
c.452A>T (p.Asp151Val)
c.368A>T (p.Asp123Val)
4g.660523C>ACA355916009PDE6Bc.1524C>A (p.Asp508Glu)
c.687C>A (p.Asp229Glu)
c.1743C>A (p.Asp581Glu)
c.729C>A (p.Asp243Glu)
c.453C>A (p.Asp151Glu)
c.369C>A (p.Asp123Glu)
4g.660523C>GCA355916012PDE6Bc.1524C>G (p.Asp508Glu)
c.687C>G (p.Asp229Glu)
c.1743C>G (p.Asp581Glu)
c.729C>G (p.Asp243Glu)
c.453C>G (p.Asp151Glu)
c.369C>G (p.Asp123Glu)
 gnomAD v4
4g.660523C>TCA437897705PDE6Bc.1524C>T (p.Asp508=)
c.687C>T (p.Asp229=)
c.1743C>T (p.Asp581=)
c.729C>T (p.Asp243=)
c.453C>T (p.Asp151=)
c.369C>T (p.Asp123=)
4g.660524C>ACA355916014PDE6Bc.1525C>A (p.Leu509Met)
c.688C>A (p.Leu230Met)
c.1744C>A (p.Leu582Met)
c.730C>A (p.Leu244Met)
c.454C>A (p.Leu152Met)
c.370C>A (p.Leu124Met)
 gnomAD v4
4g.660524C=CA1432855227PDE6Bc.1525C= (p.Leu509=)
c.688C= (p.Leu230=)
c.1744C= (p.Leu582=)
c.730C= (p.Leu244=)
c.454C= (p.Leu152=)
c.370C= (p.Leu124=)
4g.660524C>GCA355916017PDE6Bc.1525C>G (p.Leu509Val)
c.688C>G (p.Leu230Val)
c.1744C>G (p.Leu582Val)
c.730C>G (p.Leu244Val)
c.454C>G (p.Leu152Val)
c.370C>G (p.Leu124Val)
 gnomAD v4
4g.660524C>TCA437897706PDE6Bc.1525C>T (p.Leu509=)
c.688C>T (p.Leu230=)
c.1744C>T (p.Leu582=)
c.730C>T (p.Leu244=)
c.454C>T (p.Leu152=)
c.370C>T (p.Leu124=)
 dbSNP gnomAD v3 gnomAD v4
4g.660525T>ACA355916020PDE6Bc.1526T>A (p.Leu509Gln)
c.689T>A (p.Leu230Gln)
c.1745T>A (p.Leu582Gln)
c.731T>A (p.Leu244Gln)
c.455T>A (p.Leu152Gln)
c.371T>A (p.Leu124Gln)
 ClinVar
4g.660525T>CCA355916021PDE6Bc.1526T>C (p.Leu509Pro)
c.689T>C (p.Leu230Pro)
c.1745T>C (p.Leu582Pro)
c.731T>C (p.Leu244Pro)
c.455T>C (p.Leu152Pro)
c.371T>C (p.Leu124Pro)
4g.660525T>GCA355916024PDE6Bc.1526T>G (p.Leu509Arg)
c.689T>G (p.Leu230Arg)
c.1745T>G (p.Leu582Arg)
c.731T>G (p.Leu244Arg)
c.455T>G (p.Leu152Arg)
c.371T>G (p.Leu124Arg)
4g.660526G>ACA437897707PDE6Bc.1527G>A (p.Leu509=)
c.690G>A (p.Leu230=)
c.1746G>A (p.Leu582=)
c.732G>A (p.Leu244=)
c.456G>A (p.Leu152=)
c.372G>A (p.Leu124=)
 dbSNP gnomAD v2 gnomAD v4
4g.660526G>CCA437897708PDE6Bc.1527G>C (p.Leu509=)
c.690G>C (p.Leu230=)
c.1746G>C (p.Leu582=)
c.732G>C (p.Leu244=)
c.456G>C (p.Leu152=)
c.372G>C (p.Leu124=)
4g.660526G=CA1432855231PDE6Bc.1527G= (p.Leu509=)
c.690G= (p.Leu230=)
c.1746G= (p.Leu582=)
c.732G= (p.Leu244=)
c.456G= (p.Leu152=)
c.372G= (p.Leu124=)
4g.660526G>TCA437897709PDE6Bc.1527G>T (p.Leu509=)
c.690G>T (p.Leu230=)
c.1746G>T (p.Leu582=)
c.732G>T (p.Leu244=)
c.456G>T (p.Leu152=)
c.372G>T (p.Leu124=)
4g.660527G>ACA355916027PDE6Bc.1528G>A (p.Glu510Lys)
c.691G>A (p.Glu231Lys)
c.1747G>A (p.Glu583Lys)
c.733G>A (p.Glu245Lys)
c.457G>A (p.Glu153Lys)
c.373G>A (p.Glu125Lys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.660527G>CCA91087438PDE6Bc.1528G>C (p.Glu510Gln)
c.691G>C (p.Glu231Gln)
c.1747G>C (p.Glu583Gln)
c.733G>C (p.Glu245Gln)
c.457G>C (p.Glu153Gln)
c.373G>C (p.Glu125Gln)
 dbSNP gnomAD v4
4g.660527G=CA1432855244PDE6Bc.1528G= (p.Glu510=)
c.691G= (p.Glu231=)
c.1747G= (p.Glu583=)
c.733G= (p.Glu245=)
c.457G= (p.Glu153=)
c.373G= (p.Glu125=)
4g.660527G>TCA355916032PDE6Bc.1528G>T (p.Glu510Ter)
c.691G>T (p.Glu231Ter)
c.1747G>T (p.Glu583Ter)
c.733G>T (p.Glu245Ter)
c.457G>T (p.Glu153Ter)
c.373G>T (p.Glu125Ter)
 COSMIC
4g.660528A=CA1432855247PDE6Bc.1529A= (p.Glu510=)
c.692A= (p.Glu231=)
c.1748A= (p.Glu583=)
c.734A= (p.Glu245=)
c.458A= (p.Glu153=)
c.374A= (p.Glu125=)
4g.660528A>CCA355916043PDE6Bc.1529A>C (p.Glu510Ala)
c.692A>C (p.Glu231Ala)
c.1748A>C (p.Glu583Ala)
c.734A>C (p.Glu245Ala)
c.458A>C (p.Glu153Ala)
c.374A>C (p.Glu125Ala)
4g.660528A>GCA355916040PDE6Bc.1529A>G (p.Glu510Gly)
c.692A>G (p.Glu231Gly)
c.1748A>G (p.Glu583Gly)
c.734A>G (p.Glu245Gly)
c.458A>G (p.Glu153Gly)
c.374A>G (p.Glu125Gly)
 dbSNP
4g.660528A>TCA355916037PDE6Bc.1529A>T (p.Glu510Val)
c.692A>T (p.Glu231Val)
c.1748A>T (p.Glu583Val)
c.734A>T (p.Glu245Val)
c.458A>T (p.Glu153Val)
c.374A>T (p.Glu125Val)
4g.660529G>ACA437897711PDE6Bc.1530G>A (p.Glu510=)
c.693G>A (p.Glu231=)
c.1749G>A (p.Glu583=)
c.735G>A (p.Glu245=)
c.459G>A (p.Glu153=)
c.375G>A (p.Glu125=)
4g.660529G>CCA91087453PDE6Bc.1530G>C (p.Glu510Asp)
c.693G>C (p.Glu231Asp)
c.1749G>C (p.Glu583Asp)
c.735G>C (p.Glu245Asp)
c.459G>C (p.Glu153Asp)
c.375G>C (p.Glu125Asp)
 dbSNP
4g.660529G=CA1432855249PDE6Bc.1530G= (p.Glu510=)
c.693G= (p.Glu231=)
c.1749G= (p.Glu583=)
c.735G= (p.Glu245=)
c.459G= (p.Glu153=)
c.375G= (p.Glu125=)
4g.660529G>TCA355916046PDE6Bc.1530G>T (p.Glu510Asp)
c.693G>T (p.Glu231Asp)
c.1749G>T (p.Glu583Asp)
c.735G>T (p.Glu245Asp)
c.459G>T (p.Glu153Asp)
c.375G>T (p.Glu125Asp)
4g.660530T>ACA355916050PDE6Bc.1531T>A (p.Cys511Ser)
c.694T>A (p.Cys232Ser)
c.1750T>A (p.Cys584Ser)
c.736T>A (p.Cys246Ser)
c.460T>A (p.Cys154Ser)
c.376T>A (p.Cys126Ser)
4g.660530T>CCA355916053PDE6Bc.1531T>C (p.Cys511Arg)
c.694T>C (p.Cys232Arg)
c.1750T>C (p.Cys584Arg)
c.736T>C (p.Cys246Arg)
c.460T>C (p.Cys154Arg)
c.376T>C (p.Cys126Arg)
 dbSNP gnomAD v2 gnomAD v4
4g.660530T>GCA2794568PDE6Bc.1531T>G (p.Cys511Gly)
c.694T>G (p.Cys232Gly)
c.1750T>G (p.Cys584Gly)
c.736T>G (p.Cys246Gly)
c.460T>G (p.Cys154Gly)
c.376T>G (p.Cys126Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.660530T=CA1432855254PDE6Bc.1531T= (p.Cys511=)
c.694T= (p.Cys232=)
c.1750T= (p.Cys584=)
c.736T= (p.Cys246=)
c.460T= (p.Cys154=)
c.376T= (p.Cys126=)

Number of alleles fetched