Chr Mutation (hg38) CAid Gene Transcript Linkouts
4g.660561T>ACA355916230PDE6Bc.1562T>A (p.Ile521Asn)
c.725T>A (p.Ile242Asn)
c.1781T>A (p.Ile594Asn)
c.767T>A (p.Ile256Asn)
c.491T>A (p.Ile164Asn)
c.407T>A (p.Ile136Asn)
 gnomAD v4
4g.660561T>CCA355916232PDE6Bc.1562T>C (p.Ile521Thr)
c.725T>C (p.Ile242Thr)
c.1781T>C (p.Ile594Thr)
c.767T>C (p.Ile256Thr)
c.491T>C (p.Ile164Thr)
c.407T>C (p.Ile136Thr)
4g.660561T>GCA355916235PDE6Bc.1562T>G (p.Ile521Ser)
c.725T>G (p.Ile242Ser)
c.1781T>G (p.Ile594Ser)
c.767T>G (p.Ile256Ser)
c.491T>G (p.Ile164Ser)
c.407T>G (p.Ile136Ser)
4g.660562C>ACA437897743PDE6Bc.1563C>A (p.Ile521=)
c.726C>A (p.Ile242=)
c.1782C>A (p.Ile594=)
c.768C>A (p.Ile256=)
c.492C>A (p.Ile164=)
c.408C>A (p.Ile136=)
 gnomAD v4
4g.660562C>GCA355916238PDE6Bc.1563C>G (p.Ile521Met)
c.726C>G (p.Ile242Met)
c.1782C>G (p.Ile594Met)
c.768C>G (p.Ile256Met)
c.492C>G (p.Ile164Met)
c.408C>G (p.Ile136Met)
4g.660562C>TCA437897744PDE6Bc.1563C>T (p.Ile521=)
c.726C>T (p.Ile242=)
c.1782C>T (p.Ile594=)
c.768C>T (p.Ile256=)
c.492C>T (p.Ile164=)
c.408C>T (p.Ile136=)
4g.660563C>ACA355916241PDE6Bc.1564C>A (p.Gln522Lys)
c.727C>A (p.Gln243Lys)
c.1783C>A (p.Gln595Lys)
c.769C>A (p.Gln257Lys)
c.493C>A (p.Gln165Lys)
c.409C>A (p.Gln137Lys)
4g.660563C>GCA355916245PDE6Bc.1564C>G (p.Gln522Glu)
c.727C>G (p.Gln243Glu)
c.1783C>G (p.Gln595Glu)
c.769C>G (p.Gln257Glu)
c.493C>G (p.Gln165Glu)
c.409C>G (p.Gln137Glu)
4g.660563C>TCA355916242PDE6Bc.1564C>T (p.Gln522Ter)
c.727C>T (p.Gln243Ter)
c.1783C>T (p.Gln595Ter)
c.769C>T (p.Gln257Ter)
c.493C>T (p.Gln165Ter)
c.409C>T (p.Gln137Ter)
4g.660564A=CA1432855330PDE6Bc.1565A= (p.Gln522=)
c.728A= (p.Gln243=)
c.1784A= (p.Gln595=)
c.770A= (p.Gln257=)
c.494A= (p.Gln165=)
c.410A= (p.Gln137=)
4g.660564A>CCA355916247PDE6Bc.1565A>C (p.Gln522Pro)
c.728A>C (p.Gln243Pro)
c.1784A>C (p.Gln595Pro)
c.770A>C (p.Gln257Pro)
c.494A>C (p.Gln165Pro)
c.410A>C (p.Gln137Pro)
4g.660564A>GCA355916249PDE6Bc.1565A>G (p.Gln522Arg)
c.728A>G (p.Gln243Arg)
c.1784A>G (p.Gln595Arg)
c.770A>G (p.Gln257Arg)
c.494A>G (p.Gln165Arg)
c.410A>G (p.Gln137Arg)
 dbSNP gnomAD v4
4g.660564A>TCA355916251PDE6Bc.1565A>T (p.Gln522Leu)
c.728A>T (p.Gln243Leu)
c.1784A>T (p.Gln595Leu)
c.770A>T (p.Gln257Leu)
c.494A>T (p.Gln165Leu)
c.410A>T (p.Gln137Leu)
4g.660565G>ACA437897745PDE6Bc.1566G>A (p.Gln522=)
c.729G>A (p.Gln243=)
c.1785G>A (p.Gln595=)
c.771G>A (p.Gln257=)
c.495G>A (p.Gln165=)
c.411G>A (p.Gln137=)
 gnomAD v4
4g.660565G>CCA355916254PDE6Bc.1566G>C (p.Gln522His)
c.729G>C (p.Gln243His)
c.1785G>C (p.Gln595His)
c.771G>C (p.Gln257His)
c.495G>C (p.Gln165His)
c.411G>C (p.Gln137His)
 gnomAD v4
4g.660565G>TCA355916255PDE6Bc.1566G>T (p.Gln522His)
c.729G>T (p.Gln243His)
c.1785G>T (p.Gln595His)
c.771G>T (p.Gln257His)
c.495G>T (p.Gln165His)
c.411G>T (p.Gln137His)
4g.660566A=CA1432855333PDE6Bc.1567A= (p.Met523=)
c.730A= (p.Met244=)
c.1786A= (p.Met596=)
c.772A= (p.Met258=)
c.496A= (p.Met166=)
c.412A= (p.Met138=)
4g.660566A>CCA355916257PDE6Bc.1567A>C (p.Met523Leu)
c.730A>C (p.Met244Leu)
c.1786A>C (p.Met596Leu)
c.772A>C (p.Met258Leu)
c.496A>C (p.Met166Leu)
c.412A>C (p.Met138Leu)
4g.660566A>GCA355916259PDE6Bc.1567A>G (p.Met523Val)
c.730A>G (p.Met244Val)
c.1786A>G (p.Met596Val)
c.772A>G (p.Met258Val)
c.496A>G (p.Met166Val)
c.412A>G (p.Met138Val)
 dbSNP
4g.660566A>TCA355916260PDE6Bc.1567A>T (p.Met523Leu)
c.730A>T (p.Met244Leu)
c.1786A>T (p.Met596Leu)
c.772A>T (p.Met258Leu)
c.496A>T (p.Met166Leu)
c.412A>T (p.Met138Leu)
4g.660567T>ACA355916261PDE6Bc.1568T>A (p.Met523Lys)
c.731T>A (p.Met244Lys)
c.1787T>A (p.Met596Lys)
c.773T>A (p.Met258Lys)
c.497T>A (p.Met166Lys)
c.413T>A (p.Met138Lys)
 dbSNP
4g.660567T>CCA355916263PDE6Bc.1568T>C (p.Met523Thr)
c.731T>C (p.Met244Thr)
c.1787T>C (p.Met596Thr)
c.773T>C (p.Met258Thr)
c.497T>C (p.Met166Thr)
c.413T>C (p.Met138Thr)
4g.660567T>GCA91087508PDE6Bc.1568T>G (p.Met523Arg)
c.731T>G (p.Met244Arg)
c.1787T>G (p.Met596Arg)
c.773T>G (p.Met258Arg)
c.497T>G (p.Met166Arg)
c.413T>G (p.Met138Arg)
 ClinVar dbSNP
4g.660567T=CA1432855335PDE6Bc.1568T= (p.Met523=)
c.731T= (p.Met244=)
c.1787T= (p.Met596=)
c.773T= (p.Met258=)
c.497T= (p.Met166=)
c.413T= (p.Met138=)
4g.660568G>ACA355916271PDE6Bc.1569G>A (p.Met523Ile)
c.732G>A (p.Met244Ile)
c.1788G>A (p.Met596Ile)
c.774G>A (p.Met258Ile)
c.498G>A (p.Met166Ile)
c.414G>A (p.Met138Ile)
 dbSNP gnomAD v3 gnomAD v4
4g.660568G>CCA355916269PDE6Bc.1569G>C (p.Met523Ile)
c.732G>C (p.Met244Ile)
c.1788G>C (p.Met596Ile)
c.774G>C (p.Met258Ile)
c.498G>C (p.Met166Ile)
c.414G>C (p.Met138Ile)
4g.660568G=CA1432855339PDE6Bc.1569G= (p.Met523=)
c.732G= (p.Met244=)
c.1788G= (p.Met596=)
c.774G= (p.Met258=)
c.498G= (p.Met166=)
c.414G= (p.Met138=)
4g.660568G>TCA355916267PDE6Bc.1569G>T (p.Met523Ile)
c.732G>T (p.Met244Ile)
c.1788G>T (p.Met596Ile)
c.774G>T (p.Met258Ile)
c.498G>T (p.Met166Ile)
c.414G>T (p.Met138Ile)
 ClinVar dbSNP gnomAD v4
4g.660569T>ACA355916276PDE6Bc.1570T>A (p.Tyr524Asn)
c.733T>A (p.Tyr245Asn)
c.1789T>A (p.Tyr597Asn)
c.775T>A (p.Tyr259Asn)
c.499T>A (p.Tyr167Asn)
c.415T>A (p.Tyr139Asn)
 dbSNP
4g.660569T>CCA355916273PDE6Bc.1570T>C (p.Tyr524His)
c.733T>C (p.Tyr245His)
c.1789T>C (p.Tyr597His)
c.775T>C (p.Tyr259His)
c.499T>C (p.Tyr167His)
c.415T>C (p.Tyr139His)
 dbSNP gnomAD v2 gnomAD v4
4g.660569T>GCA355916274PDE6Bc.1570T>G (p.Tyr524Asp)
c.733T>G (p.Tyr245Asp)
c.1789T>G (p.Tyr597Asp)
c.775T>G (p.Tyr259Asp)
c.499T>G (p.Tyr167Asp)
c.415T>G (p.Tyr139Asp)
4g.660569T=CA1432855346PDE6Bc.1570T= (p.Tyr524=)
c.733T= (p.Tyr245=)
c.1789T= (p.Tyr597=)
c.775T= (p.Tyr259=)
c.499T= (p.Tyr167=)
c.415T= (p.Tyr139=)
4g.660570A=CA1432855349PDE6Bc.1571A= (p.Tyr524=)
c.734A= (p.Tyr245=)
c.1790A= (p.Tyr597=)
c.776A= (p.Tyr259=)
c.500A= (p.Tyr167=)
c.416A= (p.Tyr139=)
4g.660570A>CCA355916278PDE6Bc.1571A>C (p.Tyr524Ser)
c.734A>C (p.Tyr245Ser)
c.1790A>C (p.Tyr597Ser)
c.776A>C (p.Tyr259Ser)
c.500A>C (p.Tyr167Ser)
c.416A>C (p.Tyr139Ser)
4g.660570A>GCA2794574PDE6Bc.1571A>G (p.Tyr524Cys)
c.734A>G (p.Tyr245Cys)
c.1790A>G (p.Tyr597Cys)
c.776A>G (p.Tyr259Cys)
c.500A>G (p.Tyr167Cys)
c.416A>G (p.Tyr139Cys)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.660570A>TCA2794575PDE6Bc.1571A>T (p.Tyr524Phe)
c.734A>T (p.Tyr245Phe)
c.1790A>T (p.Tyr597Phe)
c.776A>T (p.Tyr259Phe)
c.500A>T (p.Tyr167Phe)
c.416A>T (p.Tyr139Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.660570_660571delinsACCA1432855351PDE6Bc.1571_1572delinsAC (p.Tyr524=)
c.734_735delinsAC (p.Tyr245=)
c.1790_1791delinsAC (p.Tyr597=)
c.776_777delinsAC (p.Tyr259=)
c.500_501delinsAC (p.Tyr167=)
c.416_417delinsAC (p.Tyr139=)
4g.660571delCA1432855356PDE6Bc.1572del (p.Tyr525ThrfsTer?)
c.735del (p.Tyr246ThrfsTer?)
c.1791del (p.Tyr598ThrfsTer?)
c.777del (p.Tyr260ThrfsTer?)
c.501del (p.Tyr168ThrfsTer?)
c.417del (p.Tyr140ThrfsTer?)
 ClinVar dbSNP
4g.660571C>ACA355916282PDE6Bc.1572C>A (p.Tyr524Ter)
c.735C>A (p.Tyr245Ter)
c.1791C>A (p.Tyr597Ter)
c.777C>A (p.Tyr259Ter)
c.501C>A (p.Tyr167Ter)
c.417C>A (p.Tyr139Ter)
4g.660571C=CA1432855355PDE6Bc.1572C= (p.Tyr524=)
c.735C= (p.Tyr245=)
c.1791C= (p.Tyr597=)
c.777C= (p.Tyr259=)
c.501C= (p.Tyr167=)
c.417C= (p.Tyr139=)
4g.660571C>GCA355916283PDE6Bc.1572C>G (p.Tyr524Ter)
c.735C>G (p.Tyr245Ter)
c.1791C>G (p.Tyr597Ter)
c.777C>G (p.Tyr259Ter)
c.501C>G (p.Tyr167Ter)
c.417C>G (p.Tyr139Ter)
4g.660571C>TCA437897746PDE6Bc.1572C>T (p.Tyr524=)
c.735C>T (p.Tyr245=)
c.1791C>T (p.Tyr597=)
c.777C>T (p.Tyr259=)
c.501C>T (p.Tyr167=)
c.417C>T (p.Tyr139=)
 dbSNP
4g.660572T>ACA355916286PDE6Bc.1573T>A (p.Tyr525Asn)
c.736T>A (p.Tyr246Asn)
c.1792T>A (p.Tyr598Asn)
c.778T>A (p.Tyr260Asn)
c.502T>A (p.Tyr168Asn)
c.418T>A (p.Tyr140Asn)
4g.660572T>CCA355916288PDE6Bc.1573T>C (p.Tyr525His)
c.736T>C (p.Tyr246His)
c.1792T>C (p.Tyr598His)
c.778T>C (p.Tyr260His)
c.502T>C (p.Tyr168His)
c.418T>C (p.Tyr140His)
4g.660572T>GCA355916290PDE6Bc.1573T>G (p.Tyr525Asp)
c.736T>G (p.Tyr246Asp)
c.1792T>G (p.Tyr598Asp)
c.778T>G (p.Tyr260Asp)
c.502T>G (p.Tyr168Asp)
c.418T>G (p.Tyr140Asp)
4g.660572dupCA2669419686PDE6Bc.1573dup (p.Tyr525LeufsTer?)
c.736dup (p.Tyr246LeufsTer?)
c.1792dup (p.Tyr598LeufsTer?)
c.778dup (p.Tyr260LeufsTer?)
c.502dup (p.Tyr168LeufsTer?)
c.418dup (p.Tyr140LeufsTer?)
 gnomAD v4
4g.660573A>CCA355916292PDE6Bc.1574A>C (p.Tyr525Ser)
c.737A>C (p.Tyr246Ser)
c.1793A>C (p.Tyr598Ser)
c.779A>C (p.Tyr260Ser)
c.503A>C (p.Tyr168Ser)
c.419A>C (p.Tyr140Ser)
4g.660573A>GCA355916293PDE6Bc.1574A>G (p.Tyr525Cys)
c.737A>G (p.Tyr246Cys)
c.1793A>G (p.Tyr598Cys)
c.779A>G (p.Tyr260Cys)
c.503A>G (p.Tyr168Cys)
c.419A>G (p.Tyr140Cys)
4g.660573A>TCA355916296PDE6Bc.1574A>T (p.Tyr525Phe)
c.737A>T (p.Tyr246Phe)
c.1793A>T (p.Tyr598Phe)
c.779A>T (p.Tyr260Phe)
c.503A>T (p.Tyr168Phe)
c.419A>T (p.Tyr140Phe)
4g.660574C>ACA355916300PDE6Bc.1575C>A (p.Tyr525Ter)
c.738C>A (p.Tyr246Ter)
c.1794C>A (p.Tyr598Ter)
c.780C>A (p.Tyr260Ter)
c.504C>A (p.Tyr168Ter)
c.420C>A (p.Tyr140Ter)
4g.660574C=CA1432855364PDE6Bc.1575C= (p.Tyr525=)
c.738C= (p.Tyr246=)
c.1794C= (p.Tyr598=)
c.780C= (p.Tyr260=)
c.504C= (p.Tyr168=)
c.420C= (p.Tyr140=)
4g.660574C>GCA91087537PDE6Bc.1575C>G (p.Tyr525Ter)
c.738C>G (p.Tyr246Ter)
c.1794C>G (p.Tyr598Ter)
c.780C>G (p.Tyr260Ter)
c.504C>G (p.Tyr168Ter)
c.420C>G (p.Tyr140Ter)
 dbSNP
4g.660574C>TCA2794576PDE6Bc.1575C>T (p.Tyr525=)
c.738C>T (p.Tyr246=)
c.1794C>T (p.Tyr598=)
c.780C>T (p.Tyr260=)
c.504C>T (p.Tyr168=)
c.420C>T (p.Tyr140=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
4g.660575G>ACA270008PDE6Bc.1576G>A (p.Glu526Lys)
c.739G>A (p.Glu247Lys)
c.1795G>A (p.Glu599Lys)
c.781G>A (p.Glu261Lys)
c.505G>A (p.Glu169Lys)
c.421G>A (p.Glu141Lys)
 ClinVar dbSNP gnomAD v4
4g.660575G>CCA355916301PDE6Bc.1576G>C (p.Glu526Gln)
c.739G>C (p.Glu247Gln)
c.1795G>C (p.Glu599Gln)
c.781G>C (p.Glu261Gln)
c.505G>C (p.Glu169Gln)
c.421G>C (p.Glu141Gln)
 gnomAD v4
4g.660575G=CA1432855374PDE6Bc.1576G= (p.Glu526=)
c.739G= (p.Glu247=)
c.1795G= (p.Glu599=)
c.781G= (p.Glu261=)
c.505G= (p.Glu169=)
c.421G= (p.Glu141=)
4g.660575G>TCA355916303PDE6Bc.1576G>T (p.Glu526Ter)
c.739G>T (p.Glu247Ter)
c.1795G>T (p.Glu599Ter)
c.781G>T (p.Glu261Ter)
c.505G>T (p.Glu169Ter)
c.421G>T (p.Glu141Ter)
 gnomAD v4
4g.660576A>CCA355916306PDE6Bc.1577A>C (p.Glu526Ala)
c.740A>C (p.Glu247Ala)
c.1796A>C (p.Glu599Ala)
c.782A>C (p.Glu261Ala)
c.506A>C (p.Glu169Ala)
c.422A>C (p.Glu141Ala)
4g.660576A>GCA355916308PDE6Bc.1577A>G (p.Glu526Gly)
c.740A>G (p.Glu247Gly)
c.1796A>G (p.Glu599Gly)
c.782A>G (p.Glu261Gly)
c.506A>G (p.Glu169Gly)
c.422A>G (p.Glu141Gly)
4g.660576A>TCA355916310PDE6Bc.1577A>T (p.Glu526Val)
c.740A>T (p.Glu247Val)
c.1796A>T (p.Glu599Val)
c.782A>T (p.Glu261Val)
c.506A>T (p.Glu169Val)
c.422A>T (p.Glu141Val)
4g.660577G>ACA437897750PDE6Bc.1578G>A (p.Glu526=)
c.741G>A (p.Glu247=)
c.1797G>A (p.Glu599=)
c.783G>A (p.Glu261=)
c.507G>A (p.Glu169=)
c.423G>A (p.Glu141=)
4g.660577G>CCA355916312PDE6Bc.1578G>C (p.Glu526Asp)
c.741G>C (p.Glu247Asp)
c.1797G>C (p.Glu599Asp)
c.783G>C (p.Glu261Asp)
c.507G>C (p.Glu169Asp)
c.423G>C (p.Glu141Asp)
4g.660577G>TCA355916313PDE6Bc.1578G>T (p.Glu526Asp)
c.741G>T (p.Glu247Asp)
c.1797G>T (p.Glu599Asp)
c.783G>T (p.Glu261Asp)
c.507G>T (p.Glu169Asp)
c.423G>T (p.Glu141Asp)
4g.660578C>ACA355916317PDE6Bc.1579C>A (p.Leu527Met)
c.742C>A (p.Leu248Met)
c.1798C>A (p.Leu600Met)
c.784C>A (p.Leu262Met)
c.508C>A (p.Leu170Met)
c.424C>A (p.Leu142Met)
4g.660578C=CA1432855379PDE6Bc.1579C= (p.Leu527=)
c.742C= (p.Leu248=)
c.1798C= (p.Leu600=)
c.784C= (p.Leu262=)
c.508C= (p.Leu170=)
c.424C= (p.Leu142=)
4g.660578C>GCA355916319PDE6Bc.1579C>G (p.Leu527Val)
c.742C>G (p.Leu248Val)
c.1798C>G (p.Leu600Val)
c.784C>G (p.Leu262Val)
c.508C>G (p.Leu170Val)
c.424C>G (p.Leu142Val)
 dbSNP gnomAD v2 gnomAD v4
4g.660578C>TCA437897752PDE6Bc.1579C>T (p.Leu527=)
c.742C>T (p.Leu248=)
c.1798C>T (p.Leu600=)
c.784C>T (p.Leu262=)
c.508C>T (p.Leu170=)
c.424C>T (p.Leu142=)
4g.660579T>ACA355916320PDE6Bc.1580T>A (p.Leu527Gln)
c.743T>A (p.Leu248Gln)
c.1799T>A (p.Leu600Gln)
c.785T>A (p.Leu262Gln)
c.509T>A (p.Leu170Gln)
c.425T>A (p.Leu142Gln)
4g.660579T>CCA2794577PDE6Bc.1580T>C (p.Leu527Pro)
c.743T>C (p.Leu248Pro)
c.1799T>C (p.Leu600Pro)
c.785T>C (p.Leu262Pro)
c.509T>C (p.Leu170Pro)
c.425T>C (p.Leu142Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.660579T>GCA355916323PDE6Bc.1580T>G (p.Leu527Arg)
c.743T>G (p.Leu248Arg)
c.1799T>G (p.Leu600Arg)
c.785T>G (p.Leu262Arg)
c.509T>G (p.Leu170Arg)
c.425T>G (p.Leu142Arg)
4g.660579T=CA1432855391PDE6Bc.1580T= (p.Leu527=)
c.743T= (p.Leu248=)
c.1799T= (p.Leu600=)
c.785T= (p.Leu262=)
c.509T= (p.Leu170=)
c.425T= (p.Leu142=)
4g.660580G>ACA437897757PDE6Bc.1581G>A (p.Leu527=)
c.744G>A (p.Leu248=)
c.1800G>A (p.Leu600=)
c.786G>A (p.Leu262=)
c.510G>A (p.Leu170=)
c.426G>A (p.Leu142=)
4g.660580G>CCA437897755PDE6Bc.1581G>C (p.Leu527=)
c.744G>C (p.Leu248=)
c.1800G>C (p.Leu600=)
c.786G>C (p.Leu262=)
c.510G>C (p.Leu170=)
c.426G>C (p.Leu142=)
4g.660580G>TCA437897756PDE6Bc.1581G>T (p.Leu527=)
c.744G>T (p.Leu248=)
c.1800G>T (p.Leu600=)
c.786G>T (p.Leu262=)
c.510G>T (p.Leu170=)
c.426G>T (p.Leu142=)
4g.660581G>ACA355916326PDE6Bc.1582G>A (p.Gly528Ser)
c.745G>A (p.Gly249Ser)
c.1801G>A (p.Gly601Ser)
c.787G>A (p.Gly263Ser)
c.511G>A (p.Gly171Ser)
c.427G>A (p.Gly143Ser)
4g.660581G>CCA355916328PDE6Bc.1582G>C (p.Gly528Arg)
c.745G>C (p.Gly249Arg)
c.1801G>C (p.Gly601Arg)
c.787G>C (p.Gly263Arg)
c.511G>C (p.Gly171Arg)
c.427G>C (p.Gly143Arg)
4g.660581G=CA1432855406PDE6Bc.1582G= (p.Gly528=)
c.745G= (p.Gly249=)
c.1801G= (p.Gly601=)
c.787G= (p.Gly263=)
c.511G= (p.Gly171=)
c.427G= (p.Gly143=)
4g.660581G>TCA2794578PDE6Bc.1582G>T (p.Gly528Cys)
c.745G>T (p.Gly249Cys)
c.1801G>T (p.Gly601Cys)
c.787G>T (p.Gly263Cys)
c.511G>T (p.Gly171Cys)
c.427G>T (p.Gly143Cys)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.660582G>ACA355916330PDE6Bc.1583G>A (p.Gly528Asp)
c.746G>A (p.Gly249Asp)
c.1802G>A (p.Gly601Asp)
c.788G>A (p.Gly263Asp)
c.512G>A (p.Gly171Asp)
c.428G>A (p.Gly143Asp)
4g.660582G>CCA355916334PDE6Bc.1583G>C (p.Gly528Ala)
c.746G>C (p.Gly249Ala)
c.1802G>C (p.Gly601Ala)
c.788G>C (p.Gly263Ala)
c.512G>C (p.Gly171Ala)
c.428G>C (p.Gly143Ala)
4g.660582G=CA1432855409PDE6Bc.1583G= (p.Gly528=)
c.746G= (p.Gly249=)
c.1802G= (p.Gly601=)
c.788G= (p.Gly263=)
c.512G= (p.Gly171=)
c.428G= (p.Gly143=)
4g.660582G>TCA355916332PDE6Bc.1583G>T (p.Gly528Val)
c.746G>T (p.Gly249Val)
c.1802G>T (p.Gly601Val)
c.788G>T (p.Gly263Val)
c.512G>T (p.Gly171Val)
c.428G>T (p.Gly143Val)
 dbSNP
4g.660583C>ACA2794580PDE6Bc.1584C>A (p.Gly528=)
c.747C>A (p.Gly249=)
c.1803C>A (p.Gly601=)
c.789C>A (p.Gly263=)
c.513C>A (p.Gly171=)
c.429C>A (p.Gly143=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.660583C=CA1432855412PDE6Bc.1584C= (p.Gly528=)
c.747C= (p.Gly249=)
c.1803C= (p.Gly601=)
c.789C= (p.Gly263=)
c.513C= (p.Gly171=)
c.429C= (p.Gly143=)
4g.660583C>GCA437897758PDE6Bc.1584C>G (p.Gly528=)
c.747C>G (p.Gly249=)
c.1803C>G (p.Gly601=)
c.789C>G (p.Gly263=)
c.513C>G (p.Gly171=)
c.429C>G (p.Gly143=)
4g.660583C>TCA2794579PDE6Bc.1584C>T (p.Gly528=)
c.747C>T (p.Gly249=)
c.1803C>T (p.Gly601=)
c.789C>T (p.Gly263=)
c.513C>T (p.Gly171=)
c.429C>T (p.Gly143=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.660584G>ACA2794581PDE6Bc.1585G>A (p.Val529Met)
c.748G>A (p.Val250Met)
c.1804G>A (p.Val602Met)
c.790G>A (p.Val264Met)
c.514G>A (p.Val172Met)
c.430G>A (p.Val144Met)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.660584G>CCA355916338PDE6Bc.1585G>C (p.Val529Leu)
c.748G>C (p.Val250Leu)
c.1804G>C (p.Val602Leu)
c.790G>C (p.Val264Leu)
c.514G>C (p.Val172Leu)
c.430G>C (p.Val144Leu)
 gnomAD v4
4g.660584G=CA1432855416PDE6Bc.1585G= (p.Val529=)
c.748G= (p.Val250=)
c.1804G= (p.Val602=)
c.790G= (p.Val264=)
c.514G= (p.Val172=)
c.430G= (p.Val144=)
4g.660584G>TCA355916340PDE6Bc.1585G>T (p.Val529Leu)
c.748G>T (p.Val250Leu)
c.1804G>T (p.Val602Leu)
c.790G>T (p.Val264Leu)
c.514G>T (p.Val172Leu)
c.430G>T (p.Val144Leu)
4g.660585T>ACA355916343PDE6Bc.1586T>A (p.Val529Glu)
c.749T>A (p.Val250Glu)
c.1805T>A (p.Val602Glu)
c.791T>A (p.Val264Glu)
c.515T>A (p.Val172Glu)
c.431T>A (p.Val144Glu)
4g.660585T>CCA355916344PDE6Bc.1586T>C (p.Val529Ala)
c.749T>C (p.Val250Ala)
c.1805T>C (p.Val602Ala)
c.791T>C (p.Val264Ala)
c.515T>C (p.Val172Ala)
c.431T>C (p.Val144Ala)
4g.660585T>GCA355916346PDE6Bc.1586T>G (p.Val529Gly)
c.749T>G (p.Val250Gly)
c.1805T>G (p.Val602Gly)
c.791T>G (p.Val264Gly)
c.515T>G (p.Val172Gly)
c.431T>G (p.Val144Gly)
4g.660586G>ACA437897760PDE6Bc.1587G>A (p.Val529=)
c.750G>A (p.Val250=)
c.1806G>A (p.Val602=)
c.792G>A (p.Val264=)
c.516G>A (p.Val172=)
c.432G>A (p.Val144=)
 gnomAD v4
4g.660586G>CCA437897761PDE6Bc.1587G>C (p.Val529=)
c.750G>C (p.Val250=)
c.1806G>C (p.Val602=)
c.792G>C (p.Val264=)
c.516G>C (p.Val172=)
c.432G>C (p.Val144=)
4g.660586G>TCA437897762PDE6Bc.1587G>T (p.Val529=)
c.750G>T (p.Val250=)
c.1806G>T (p.Val602=)
c.792G>T (p.Val264=)
c.516G>T (p.Val172=)
c.432G>T (p.Val144=)
 gnomAD v4
4g.660587G>ACA355916348PDE6Bc.1588G>A (p.Val530Ile)
c.751G>A (p.Val251Ile)
c.1807G>A (p.Val603Ile)
c.793G>A (p.Val265Ile)
c.517G>A (p.Val173Ile)
c.433G>A (p.Val145Ile)
4g.660587G>CCA355916349PDE6Bc.1588G>C (p.Val530Leu)
c.751G>C (p.Val251Leu)
c.1807G>C (p.Val603Leu)
c.793G>C (p.Val265Leu)
c.517G>C (p.Val173Leu)
c.433G>C (p.Val145Leu)
4g.660587G>TCA355916350PDE6Bc.1588G>T (p.Val530Phe)
c.751G>T (p.Val251Phe)
c.1807G>T (p.Val603Phe)
c.793G>T (p.Val265Phe)
c.517G>T (p.Val173Phe)
c.433G>T (p.Val145Phe)
4g.660588T>ACA355916355PDE6Bc.1589T>A (p.Val530Asp)
c.752T>A (p.Val251Asp)
c.1808T>A (p.Val603Asp)
c.794T>A (p.Val265Asp)
c.518T>A (p.Val173Asp)
c.434T>A (p.Val145Asp)
4g.660588T>CCA355916354PDE6Bc.1589T>C (p.Val530Ala)
c.752T>C (p.Val251Ala)
c.1808T>C (p.Val603Ala)
c.794T>C (p.Val265Ala)
c.518T>C (p.Val173Ala)
c.434T>C (p.Val145Ala)
4g.660588T>GCA355916353PDE6Bc.1589T>G (p.Val530Gly)
c.752T>G (p.Val251Gly)
c.1808T>G (p.Val603Gly)
c.794T>G (p.Val265Gly)
c.518T>G (p.Val173Gly)
c.434T>G (p.Val145Gly)
4g.660588_660589delinsTCCA1432855421PDE6Bc.1589_1590delinsTC (p.Val530=)
c.752_753delinsTC (p.Val251=)
c.1808_1809delinsTC (p.Val603=)
c.794_795delinsTC (p.Val265=)
c.518_519delinsTC (p.Val173=)
c.434_435delinsTC (p.Val145=)
4g.660588_660589insGATGAGAAGCAAGTGGGGGCTGTGGCAGGCCAACCTCCA2669419687PDE6Bc.1589_1590insGATGAGAAGCAAGTGGGGGCTGTGGCAGGCCAACCTC (p.Arg531MetfsTer?)
c.752_753insGATGAGAAGCAAGTGGGGGCTGTGGCAGGCCAACCTC (p.Arg252MetfsTer?)
c.1808_1809insGATGAGAAGCAAGTGGGGGCTGTGGCAGGCCAACCTC (p.Arg604MetfsTer?)
c.794_795insGATGAGAAGCAAGTGGGGGCTGTGGCAGGCCAACCTC (p.Arg266MetfsTer?)
c.518_519insGATGAGAAGCAAGTGGGGGCTGTGGCAGGCCAACCTC (p.Arg174MetfsTer?)
c.434_435insGATGAGAAGCAAGTGGGGGCTGTGGCAGGCCAACCTC (p.Arg146MetfsTer?)
 gnomAD v4
4g.660589C>ACA437897763PDE6Bc.1590C>A (p.Val530=)
c.753C>A (p.Val251=)
c.1809C>A (p.Val603=)
c.795C>A (p.Val265=)
c.519C>A (p.Val173=)
c.435C>A (p.Val145=)
 gnomAD v4
4g.660589C=CA1432855429PDE6Bc.1590C= (p.Val530=)
c.753C= (p.Val251=)
c.1809C= (p.Val603=)
c.795C= (p.Val265=)
c.519C= (p.Val173=)
c.435C= (p.Val145=)
4g.660589C>GCA437897764PDE6Bc.1590C>G (p.Val530=)
c.753C>G (p.Val251=)
c.1809C>G (p.Val603=)
c.795C>G (p.Val265=)
c.519C>G (p.Val173=)
c.435C>G (p.Val145=)
4g.660589C>TCA2794583PDE6Bc.1590C>T (p.Val530=)
c.753C>T (p.Val251=)
c.1809C>T (p.Val603=)
c.795C>T (p.Val265=)
c.519C>T (p.Val173=)
c.435C>T (p.Val145=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
4g.660590delCA2794582PDE6Bc.1591del (p.Arg531GlufsTer?)
c.754del (p.Arg252GlufsTer?)
c.1810del (p.Arg604GlufsTer?)
c.796del (p.Arg266GlufsTer?)
c.520del (p.Arg174GlufsTer?)
c.436del (p.Arg146GlufsTer?)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.660590C>ACA437897767PDE6Bc.1591C>A (p.Arg531=)
c.754C>A (p.Arg252=)
c.1810C>A (p.Arg604=)
c.796C>A (p.Arg266=)
c.520C>A (p.Arg174=)
c.436C>A (p.Arg146=)
4g.660590C=CA1432855438PDE6Bc.1591C= (p.Arg531=)
c.754C= (p.Arg252=)
c.1810C= (p.Arg604=)
c.796C= (p.Arg266=)
c.520C= (p.Arg174=)
c.436C= (p.Arg146=)
4g.660590C>GCA2794584PDE6Bc.1591C>G (p.Arg531Gly)
c.754C>G (p.Arg252Gly)
c.1810C>G (p.Arg604Gly)
c.796C>G (p.Arg266Gly)
c.520C>G (p.Arg174Gly)
c.436C>G (p.Arg146Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.660590C>TCA256717PDE6Bc.1591C>T (p.Arg531Ter)
c.754C>T (p.Arg252Ter)
c.1810C>T (p.Arg604Ter)
c.796C>T (p.Arg266Ter)
c.520C>T (p.Arg174Ter)
c.436C>T (p.Arg146Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.660591G>ACA2794585PDE6Bc.1592G>A (p.Arg531Gln)
c.755G>A (p.Arg252Gln)
c.1811G>A (p.Arg604Gln)
c.797G>A (p.Arg266Gln)
c.521G>A (p.Arg174Gln)
c.437G>A (p.Arg146Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
4g.660591G>CCA2794586PDE6Bc.1592G>C (p.Arg531Pro)
c.755G>C (p.Arg252Pro)
c.1811G>C (p.Arg604Pro)
c.797G>C (p.Arg266Pro)
c.521G>C (p.Arg174Pro)
c.437G>C (p.Arg146Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.660591G=CA1432855442PDE6Bc.1592G= (p.Arg531=)
c.755G= (p.Arg252=)
c.1811G= (p.Arg604=)
c.797G= (p.Arg266=)
c.521G= (p.Arg174=)
c.437G= (p.Arg146=)
4g.660591G>TCA2794587PDE6Bc.1592G>T (p.Arg531Leu)
c.755G>T (p.Arg252Leu)
c.1811G>T (p.Arg604Leu)
c.797G>T (p.Arg266Leu)
c.521G>T (p.Arg174Leu)
c.437G>T (p.Arg146Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.660592A=CA1432855447PDE6Bc.1593A= (p.Arg531=)
c.756A= (p.Arg252=)
c.1812A= (p.Arg604=)
c.798A= (p.Arg266=)
c.522A= (p.Arg174=)
c.438A= (p.Arg146=)
4g.660592A>CCA437897769PDE6Bc.1593A>C (p.Arg531=)
c.756A>C (p.Arg252=)
c.1812A>C (p.Arg604=)
c.798A>C (p.Arg266=)
c.522A>C (p.Arg174=)
c.438A>C (p.Arg146=)
4g.660592A>GCA2794588PDE6Bc.1593A>G (p.Arg531=)
c.756A>G (p.Arg252=)
c.1812A>G (p.Arg604=)
c.798A>G (p.Arg266=)
c.522A>G (p.Arg174=)
c.438A>G (p.Arg146=)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.660592A>TCA437897770PDE6Bc.1593A>T (p.Arg531=)
c.756A>T (p.Arg252=)
c.1812A>T (p.Arg604=)
c.798A>T (p.Arg266=)
c.522A>T (p.Arg174=)
c.438A>T (p.Arg146=)
 gnomAD v4
4g.660593A>CCA355916365PDE6Bc.1594A>C (p.Lys532Gln)
c.757A>C (p.Lys253Gln)
c.1813A>C (p.Lys605Gln)
c.799A>C (p.Lys267Gln)
c.523A>C (p.Lys175Gln)
c.439A>C (p.Lys147Gln)
4g.660593A>GCA355916368PDE6Bc.1594A>G (p.Lys532Glu)
c.757A>G (p.Lys253Glu)
c.1813A>G (p.Lys605Glu)
c.799A>G (p.Lys267Glu)
c.523A>G (p.Lys175Glu)
c.439A>G (p.Lys147Glu)
4g.660593A>TCA355916370PDE6Bc.1594A>T (p.Lys532Ter)
c.757A>T (p.Lys253Ter)
c.1813A>T (p.Lys605Ter)
c.799A>T (p.Lys267Ter)
c.523A>T (p.Lys175Ter)
c.439A>T (p.Lys147Ter)
4g.660594A>CCA355916376PDE6Bc.1595A>C (p.Lys532Thr)
c.758A>C (p.Lys253Thr)
c.1814A>C (p.Lys605Thr)
c.800A>C (p.Lys267Thr)
c.524A>C (p.Lys175Thr)
c.440A>C (p.Lys147Thr)
4g.660594A>GCA355916374PDE6Bc.1595A>G (p.Lys532Arg)
c.758A>G (p.Lys253Arg)
c.1814A>G (p.Lys605Arg)
c.800A>G (p.Lys267Arg)
c.524A>G (p.Lys175Arg)
c.440A>G (p.Lys147Arg)
4g.660594A>TCA355916372PDE6Bc.1595A>T (p.Lys532Met)
c.758A>T (p.Lys253Met)
c.1814A>T (p.Lys605Met)
c.800A>T (p.Lys267Met)
c.524A>T (p.Lys175Met)
c.440A>T (p.Lys147Met)
4g.660595G>ACA437897771PDE6Bc.1596G>A (p.Lys532=)
c.759G>A (p.Lys253=)
c.1815G>A (p.Lys605=)
c.801G>A (p.Lys267=)
c.525G>A (p.Lys175=)
c.441G>A (p.Lys147=)
4g.660595G>CCA355916378PDE6Bc.1596G>C (p.Lys532Asn)
c.759G>C (p.Lys253Asn)
c.1815G>C (p.Lys605Asn)
c.801G>C (p.Lys267Asn)
c.525G>C (p.Lys175Asn)
c.441G>C (p.Lys147Asn)
4g.660595G=CA1432855448PDE6Bc.1596G= (p.Lys532=)
c.759G= (p.Lys253=)
c.1815G= (p.Lys605=)
c.801G= (p.Lys267=)
c.525G= (p.Lys175=)
c.441G= (p.Lys147=)
4g.660595G>TCA355916380PDE6Bc.1596G>T (p.Lys532Asn)
c.759G>T (p.Lys253Asn)
c.1815G>T (p.Lys605Asn)
c.801G>T (p.Lys267Asn)
c.525G>T (p.Lys175Asn)
c.441G>T (p.Lys147Asn)
 dbSNP gnomAD v2 gnomAD v4
4g.660596T>ACA355916381PDE6Bc.1597T>A (p.Phe533Ile)
c.760T>A (p.Phe254Ile)
c.1816T>A (p.Phe606Ile)
c.802T>A (p.Phe268Ile)
c.526T>A (p.Phe176Ile)
c.442T>A (p.Phe148Ile)
4g.660596T>CCA355916383PDE6Bc.1597T>C (p.Phe533Leu)
c.760T>C (p.Phe254Leu)
c.1816T>C (p.Phe606Leu)
c.802T>C (p.Phe268Leu)
c.526T>C (p.Phe176Leu)
c.442T>C (p.Phe148Leu)
4g.660596T>GCA355916385PDE6Bc.1597T>G (p.Phe533Val)
c.760T>G (p.Phe254Val)
c.1816T>G (p.Phe606Val)
c.802T>G (p.Phe268Val)
c.526T>G (p.Phe176Val)
c.442T>G (p.Phe148Val)
4g.660597T>ACA355916387PDE6Bc.1598T>A (p.Phe533Tyr)
c.761T>A (p.Phe254Tyr)
c.1817T>A (p.Phe606Tyr)
c.803T>A (p.Phe268Tyr)
c.527T>A (p.Phe176Tyr)
c.443T>A (p.Phe148Tyr)
4g.660597T>CCA355916389PDE6Bc.1598T>C (p.Phe533Ser)
c.761T>C (p.Phe254Ser)
c.1817T>C (p.Phe606Ser)
c.803T>C (p.Phe268Ser)
c.527T>C (p.Phe176Ser)
c.443T>C (p.Phe148Ser)
 dbSNP gnomAD v3 gnomAD v4
4g.660597T>GCA355916391PDE6Bc.1598T>G (p.Phe533Cys)
c.761T>G (p.Phe254Cys)
c.1817T>G (p.Phe606Cys)
c.803T>G (p.Phe268Cys)
c.527T>G (p.Phe176Cys)
c.443T>G (p.Phe148Cys)
4g.660597T=CA1432855451PDE6Bc.1598T= (p.Phe533=)
c.761T= (p.Phe254=)
c.1817T= (p.Phe606=)
c.803T= (p.Phe268=)
c.527T= (p.Phe176=)
c.443T= (p.Phe148=)
4g.660598C>ACA355916393PDE6Bc.1599C>A (p.Phe533Leu)
c.762C>A (p.Phe254Leu)
c.1818C>A (p.Phe606Leu)
c.804C>A (p.Phe268Leu)
c.528C>A (p.Phe176Leu)
c.444C>A (p.Phe148Leu)
4g.660598C>GCA355916395PDE6Bc.1599C>G (p.Phe533Leu)
c.762C>G (p.Phe254Leu)
c.1818C>G (p.Phe606Leu)
c.804C>G (p.Phe268Leu)
c.528C>G (p.Phe176Leu)
c.444C>G (p.Phe148Leu)
4g.660598C>TCA437897773PDE6Bc.1599C>T (p.Phe533=)
c.762C>T (p.Phe254=)
c.1818C>T (p.Phe606=)
c.804C>T (p.Phe268=)
c.528C>T (p.Phe176=)
c.444C>T (p.Phe148=)
4g.660602_660610delCA2669419688PDE6Bc.1603_1611del (p.Ile535_Gln537del)
c.766_774del (p.Ile256_Gln258del)
c.1822_1830del (p.Ile608_Gln610del)
c.808_816del (p.Ile270_Gln272del)
c.532_540del (p.Ile178_Gln180del)
c.448_456del (p.Ile150_Gln152del)
 gnomAD v4
4g.660599C>ACA355916399PDE6Bc.1600C>A (p.Gln534Lys)
c.763C>A (p.Gln255Lys)
c.1819C>A (p.Gln607Lys)
c.805C>A (p.Gln269Lys)
c.529C>A (p.Gln177Lys)
c.445C>A (p.Gln149Lys)
 gnomAD v4
4g.660599C>GCA355916400PDE6Bc.1600C>G (p.Gln534Glu)
c.763C>G (p.Gln255Glu)
c.1819C>G (p.Gln607Glu)
c.805C>G (p.Gln269Glu)
c.529C>G (p.Gln177Glu)
c.445C>G (p.Gln149Glu)
4g.660599C>TCA355916402PDE6Bc.1600C>T (p.Gln534Ter)
c.763C>T (p.Gln255Ter)
c.1819C>T (p.Gln607Ter)
c.805C>T (p.Gln269Ter)
c.529C>T (p.Gln177Ter)
c.445C>T (p.Gln149Ter)
4g.660600A>CCA355916407PDE6Bc.1601A>C (p.Gln534Pro)
c.764A>C (p.Gln255Pro)
c.1820A>C (p.Gln607Pro)
c.806A>C (p.Gln269Pro)
c.530A>C (p.Gln177Pro)
c.446A>C (p.Gln149Pro)
4g.660600A>GCA355916404PDE6Bc.1601A>G (p.Gln534Arg)
c.764A>G (p.Gln255Arg)
c.1820A>G (p.Gln607Arg)
c.806A>G (p.Gln269Arg)
c.530A>G (p.Gln177Arg)
c.446A>G (p.Gln149Arg)
4g.660600A>TCA355916406PDE6Bc.1601A>T (p.Gln534Leu)
c.764A>T (p.Gln255Leu)
c.1820A>T (p.Gln607Leu)
c.806A>T (p.Gln269Leu)
c.530A>T (p.Gln177Leu)
c.446A>T (p.Gln149Leu)
4g.660601G>ACA437897774PDE6Bc.1602G>A (p.Gln534=)
c.765G>A (p.Gln255=)
c.1821G>A (p.Gln607=)
c.807G>A (p.Gln269=)
c.531G>A (p.Gln177=)
c.447G>A (p.Gln149=)
 dbSNP gnomAD v2 gnomAD v4
4g.660601G>CCA355916408PDE6Bc.1602G>C (p.Gln534His)
c.765G>C (p.Gln255His)
c.1821G>C (p.Gln607His)
c.807G>C (p.Gln269His)
c.531G>C (p.Gln177His)
c.447G>C (p.Gln149His)
4g.660601G=CA1432855455PDE6Bc.1602G= (p.Gln534=)
c.765G= (p.Gln255=)
c.1821G= (p.Gln607=)
c.807G= (p.Gln269=)
c.531G= (p.Gln177=)
c.447G= (p.Gln149=)
4g.660601G>TCA355916410PDE6Bc.1602G>T (p.Gln534His)
c.765G>T (p.Gln255His)
c.1821G>T (p.Gln607His)
c.807G>T (p.Gln269His)
c.531G>T (p.Gln177His)
c.447G>T (p.Gln149His)
4g.660602A>CCA355916412PDE6Bc.1603A>C (p.Ile535Leu)
c.766A>C (p.Ile256Leu)
c.1822A>C (p.Ile608Leu)
c.808A>C (p.Ile270Leu)
c.532A>C (p.Ile178Leu)
c.448A>C (p.Ile150Leu)
4g.660602A>GCA355916413PDE6Bc.1603A>G (p.Ile535Val)
c.766A>G (p.Ile256Val)
c.1822A>G (p.Ile608Val)
c.808A>G (p.Ile270Val)
c.532A>G (p.Ile178Val)
c.448A>G (p.Ile150Val)
4g.660602A>TCA355916416PDE6Bc.1603A>T (p.Ile535Phe)
c.766A>T (p.Ile256Phe)
c.1822A>T (p.Ile608Phe)
c.808A>T (p.Ile270Phe)
c.532A>T (p.Ile178Phe)
c.448A>T (p.Ile150Phe)
4g.660603T>ACA270010PDE6Bc.1604T>A (p.Ile535Asn)
c.767T>A (p.Ile256Asn)
c.1823T>A (p.Ile608Asn)
c.809T>A (p.Ile270Asn)
c.533T>A (p.Ile178Asn)
c.449T>A (p.Ile150Asn)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.660603T>CCA355916418PDE6Bc.1604T>C (p.Ile535Thr)
c.767T>C (p.Ile256Thr)
c.1823T>C (p.Ile608Thr)
c.809T>C (p.Ile270Thr)
c.533T>C (p.Ile178Thr)
c.449T>C (p.Ile150Thr)
4g.660603T>GCA355916419PDE6Bc.1604T>G (p.Ile535Ser)
c.767T>G (p.Ile256Ser)
c.1823T>G (p.Ile608Ser)
c.809T>G (p.Ile270Ser)
c.533T>G (p.Ile178Ser)
c.449T>G (p.Ile150Ser)
4g.660603T=CA1432855465PDE6Bc.1604T= (p.Ile535=)
c.767T= (p.Ile256=)
c.1823T= (p.Ile608=)
c.809T= (p.Ile270=)
c.533T= (p.Ile178=)
c.449T= (p.Ile150=)
4g.660604C>ACA437897775PDE6Bc.1605C>A (p.Ile535=)
c.768C>A (p.Ile256=)
c.1824C>A (p.Ile608=)
c.810C>A (p.Ile270=)
c.534C>A (p.Ile178=)
c.450C>A (p.Ile150=)
4g.660604C=CA1432855473PDE6Bc.1605C= (p.Ile535=)
c.768C= (p.Ile256=)
c.1824C= (p.Ile608=)
c.810C= (p.Ile270=)
c.534C= (p.Ile178=)
c.450C= (p.Ile150=)
4g.660604C>GCA355916421PDE6Bc.1605C>G (p.Ile535Met)
c.768C>G (p.Ile256Met)
c.1824C>G (p.Ile608Met)
c.810C>G (p.Ile270Met)
c.534C>G (p.Ile178Met)
c.450C>G (p.Ile150Met)
4g.660604C>TCA437897776PDE6Bc.1605C>T (p.Ile535=)
c.768C>T (p.Ile256=)
c.1824C>T (p.Ile608=)
c.810C>T (p.Ile270=)
c.534C>T (p.Ile178=)
c.450C>T (p.Ile150=)
 dbSNP gnomAD v4
4g.660605C>ACA355916424PDE6Bc.1606C>A (p.Pro536Thr)
c.769C>A (p.Pro257Thr)
c.1825C>A (p.Pro609Thr)
c.811C>A (p.Pro271Thr)
c.535C>A (p.Pro179Thr)
c.451C>A (p.Pro151Thr)
4g.660605C=CA1432855481PDE6Bc.1606C= (p.Pro536=)
c.769C= (p.Pro257=)
c.1825C= (p.Pro609=)
c.811C= (p.Pro271=)
c.535C= (p.Pro179=)
c.451C= (p.Pro151=)
4g.660605C>GCA355916425PDE6Bc.1606C>G (p.Pro536Ala)
c.769C>G (p.Pro257Ala)
c.1825C>G (p.Pro609Ala)
c.811C>G (p.Pro271Ala)
c.535C>G (p.Pro179Ala)
c.451C>G (p.Pro151Ala)
4g.660605C>TCA2794589PDE6Bc.1606C>T (p.Pro536Ser)
c.769C>T (p.Pro257Ser)
c.1825C>T (p.Pro609Ser)
c.811C>T (p.Pro271Ser)
c.535C>T (p.Pro179Ser)
c.451C>T (p.Pro151Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.660606C>ACA355916428PDE6Bc.1607C>A (p.Pro536His)
c.770C>A (p.Pro257His)
c.1826C>A (p.Pro609His)
c.812C>A (p.Pro271His)
c.536C>A (p.Pro179His)
c.452C>A (p.Pro151His)
4g.660606C>GCA355916429PDE6Bc.1607C>G (p.Pro536Arg)
c.770C>G (p.Pro257Arg)
c.1826C>G (p.Pro609Arg)
c.812C>G (p.Pro271Arg)
c.536C>G (p.Pro179Arg)
c.452C>G (p.Pro151Arg)
4g.660606C>TCA355916427PDE6Bc.1607C>T (p.Pro536Leu)
c.770C>T (p.Pro257Leu)
c.1826C>T (p.Pro609Leu)
c.812C>T (p.Pro271Leu)
c.536C>T (p.Pro179Leu)
c.452C>T (p.Pro151Leu)
4g.660607C>ACA437897777PDE6Bc.1608C>A (p.Pro536=)
c.771C>A (p.Pro257=)
c.1827C>A (p.Pro609=)
c.813C>A (p.Pro271=)
c.537C>A (p.Pro179=)
c.453C>A (p.Pro151=)
4g.660607C=CA1432855490PDE6Bc.1608C= (p.Pro536=)
c.771C= (p.Pro257=)
c.1827C= (p.Pro609=)
c.813C= (p.Pro271=)
c.537C= (p.Pro179=)
c.453C= (p.Pro151=)
4g.660607C>GCA437897778PDE6Bc.1608C>G (p.Pro536=)
c.771C>G (p.Pro257=)
c.1827C>G (p.Pro609=)
c.813C>G (p.Pro271=)
c.537C>G (p.Pro179=)
c.453C>G (p.Pro151=)
4g.660607C>TCA2794590PDE6Bc.1608C>T (p.Pro536=)
c.771C>T (p.Pro257=)
c.1827C>T (p.Pro609=)
c.813C>T (p.Pro271=)
c.537C>T (p.Pro179=)
c.453C>T (p.Pro151=)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.660608C>ACA355916432PDE6Bc.1609C>A (p.Gln537Lys)
c.772C>A (p.Gln258Lys)
c.1828C>A (p.Gln610Lys)
c.814C>A (p.Gln272Lys)
c.538C>A (p.Gln180Lys)
c.454C>A (p.Gln152Lys)
4g.660608C>GCA355916435PDE6Bc.1609C>G (p.Gln537Glu)
c.772C>G (p.Gln258Glu)
c.1828C>G (p.Gln610Glu)
c.814C>G (p.Gln272Glu)
c.538C>G (p.Gln180Glu)
c.454C>G (p.Gln152Glu)
4g.660608C>TCA355916433PDE6Bc.1609C>T (p.Gln537Ter)
c.772C>T (p.Gln258Ter)
c.1828C>T (p.Gln610Ter)
c.814C>T (p.Gln272Ter)
c.538C>T (p.Gln180Ter)
c.454C>T (p.Gln152Ter)
4g.660609A>CCA355916437PDE6Bc.1610A>C (p.Gln537Pro)
c.773A>C (p.Gln258Pro)
c.1829A>C (p.Gln610Pro)
c.815A>C (p.Gln272Pro)
c.539A>C (p.Gln180Pro)
c.455A>C (p.Gln152Pro)
4g.660609A>GCA355916441PDE6Bc.1610A>G (p.Gln537Arg)
c.773A>G (p.Gln258Arg)
c.1829A>G (p.Gln610Arg)
c.815A>G (p.Gln272Arg)
c.539A>G (p.Gln180Arg)
c.455A>G (p.Gln152Arg)
4g.660609A>TCA355916439PDE6Bc.1610A>T (p.Gln537Leu)
c.773A>T (p.Gln258Leu)
c.1829A>T (p.Gln610Leu)
c.815A>T (p.Gln272Leu)
c.539A>T (p.Gln180Leu)
c.455A>T (p.Gln152Leu)
4g.660612_660614delCA2586973557PDE6Bc.1613_1614+1del
c.776_777+1del
c.1832_1833+1del
c.818_819+1del
c.542_543+1del
c.458_459+1del
 gnomAD v4
4g.660610G>ACA437897781PDE6Bc.1611G>A (p.Gln537=)
c.774G>A (p.Gln258=)
c.1830G>A (p.Gln610=)
c.816G>A (p.Gln272=)
c.540G>A (p.Gln180=)
c.456G>A (p.Gln152=)
4g.660610G>CCA355916443PDE6Bc.1611G>C (p.Gln537His)
c.774G>C (p.Gln258His)
c.1830G>C (p.Gln610His)
c.816G>C (p.Gln272His)
c.540G>C (p.Gln180His)
c.456G>C (p.Gln152His)
4g.660610G>TCA355916445PDE6Bc.1611G>T (p.Gln537His)
c.774G>T (p.Gln258His)
c.1830G>T (p.Gln610His)
c.816G>T (p.Gln272His)
c.540G>T (p.Gln180His)
c.456G>T (p.Gln152His)
4g.660611G>ACA2794591PDE6Bc.1612G>A (p.Glu538Lys)
c.775G>A (p.Glu259Lys)
c.1831G>A (p.Glu611Lys)
c.817G>A (p.Glu273Lys)
c.541G>A (p.Glu181Lys)
c.457G>A (p.Glu153Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.660611G>CCA355916448PDE6Bc.1612G>C (p.Glu538Gln)
c.775G>C (p.Glu259Gln)
c.1831G>C (p.Glu611Gln)
c.817G>C (p.Glu273Gln)
c.541G>C (p.Glu181Gln)
c.457G>C (p.Glu153Gln)
4g.660611G=CA1432855494PDE6Bc.1612G= (p.Glu538=)
c.775G= (p.Glu259=)
c.1831G= (p.Glu611=)
c.817G= (p.Glu273=)
c.541G= (p.Glu181=)
c.457G= (p.Glu153=)
4g.660611G>TCA355916450PDE6Bc.1612G>T (p.Glu538Ter)
c.775G>T (p.Glu259Ter)
c.1831G>T (p.Glu611Ter)
c.817G>T (p.Glu273Ter)
c.541G>T (p.Glu181Ter)
c.457G>T (p.Glu153Ter)
 gnomAD v4
4g.660612A>CCA355916451PDE6Bc.1613A>C (p.Glu538Ala)
c.776A>C (p.Glu259Ala)
c.1832A>C (p.Glu611Ala)
c.818A>C (p.Glu273Ala)
c.542A>C (p.Glu181Ala)
c.458A>C (p.Glu153Ala)
4g.660612A>GCA355916452PDE6Bc.1613A>G (p.Glu538Gly)
c.776A>G (p.Glu259Gly)
c.1832A>G (p.Glu611Gly)
c.818A>G (p.Glu273Gly)
c.542A>G (p.Glu181Gly)
c.458A>G (p.Glu153Gly)
4g.660612A>TCA355916454PDE6Bc.1613A>T (p.Glu538Val)
c.776A>T (p.Glu259Val)
c.1832A>T (p.Glu611Val)
c.818A>T (p.Glu273Val)
c.542A>T (p.Glu181Val)
c.458A>T (p.Glu153Val)
4g.660613G>ACA437897782PDE6Bc.1614G>A (p.Glu538=)
c.777G>A (p.Glu259=)
c.1833G>A (p.Glu611=)
c.819G>A (p.Glu273=)
c.543G>A (p.Glu181=)
c.459G>A (p.Glu153=)
4g.660613G>CCA355916456PDE6Bc.1614G>C (p.Glu538Asp)
c.777G>C (p.Glu259Asp)
c.1833G>C (p.Glu611Asp)
c.819G>C (p.Glu273Asp)
c.543G>C (p.Glu181Asp)
c.459G>C (p.Glu153Asp)
4g.660613G>TCA355916457PDE6Bc.1614G>T (p.Glu538Asp)
c.777G>T (p.Glu259Asp)
c.1833G>T (p.Glu611Asp)
c.819G>T (p.Glu273Asp)
c.543G>T (p.Glu181Asp)
c.459G>T (p.Glu153Asp)
4g.660614G>ACA355916459PDE6Bc.1614+1G>A (n.1614+1G>A)
c.777+1G>A (n.777+1G>A)
c.1833+1G>A (n.1833+1G>A)
c.819+1G>A (n.819+1G>A)
c.543+1G>A (n.543+1G>A)
c.459+1G>A (n.459+1G>A)
 gnomAD v4
4g.660614G>CCA355916461PDE6Bc.1614+1G>C (n.1614+1G>C)
c.777+1G>C (n.777+1G>C)
c.1833+1G>C (n.1833+1G>C)
c.819+1G>C (n.819+1G>C)
c.543+1G>C (n.543+1G>C)
c.459+1G>C (n.459+1G>C)
4g.660614G>TCA355916463PDE6Bc.1614+1G>T (n.1614+1G>T)
c.777+1G>T (n.777+1G>T)
c.1833+1G>T (n.1833+1G>T)
c.819+1G>T (n.819+1G>T)
c.543+1G>T (n.543+1G>T)
c.459+1G>T (n.459+1G>T)
4g.660615T>ACA355916469PDE6Bc.1614+2T>A (n.1614+2T>A)
c.777+2T>A (n.777+2T>A)
c.1833+2T>A (n.1833+2T>A)
c.819+2T>A (n.819+2T>A)
c.543+2T>A (n.543+2T>A)
c.459+2T>A (n.459+2T>A)
4g.660615T>CCA355916467PDE6Bc.1614+2T>C (n.1614+2T>C)
c.777+2T>C (n.777+2T>C)
c.1833+2T>C (n.1833+2T>C)
c.819+2T>C (n.819+2T>C)
c.543+2T>C (n.543+2T>C)
c.459+2T>C (n.459+2T>C)
4g.660615T>GCA355916465PDE6Bc.1614+2T>G (n.1614+2T>G)
c.777+2T>G (n.777+2T>G)
c.1833+2T>G (n.1833+2T>G)
c.819+2T>G (n.819+2T>G)
c.543+2T>G (n.543+2T>G)
c.459+2T>G (n.459+2T>G)
4g.660616G>ACA2794592PDE6Bc.1614+3G>A (n.1614+3G>A)
c.777+3G>A (n.777+3G>A)
c.1833+3G>A (n.1833+3G>A)
c.819+3G>A (n.819+3G>A)
c.543+3G>A (n.543+3G>A)
c.459+3G>A (n.459+3G>A)
 dbSNP ExAC gnomAD v4
4g.660616G=CA1432855501PDE6Bc.1614+3G= (n.1614+3G=)
c.777+3G= (n.777+3G=)
c.1833+3G= (n.1833+3G=)
c.819+3G= (n.819+3G=)
c.543+3G= (n.543+3G=)
c.459+3G= (n.459+3G=)
4g.660618delCA2578009733PDE6Bc.1614+5del (n.1614+5del)
c.777+5del (n.777+5del)
c.1833+5del (n.1833+5del)
c.819+5del (n.819+5del)
c.543+5del (n.543+5del)
c.459+5del (n.459+5del)
4g.660617G>ACA549125852PDE6Bc.1614+4G>A (n.1614+4G>A)
c.777+4G>A (n.777+4G>A)
c.1833+4G>A (n.1833+4G>A)
c.819+4G>A (n.819+4G>A)
c.543+4G>A (n.543+4G>A)
c.459+4G>A (n.459+4G>A)
 dbSNP gnomAD v2 gnomAD v4
4g.660617G=CA1432855502PDE6Bc.1614+4G= (n.1614+4G=)
c.777+4G= (n.777+4G=)
c.1833+4G= (n.1833+4G=)
c.819+4G= (n.819+4G=)
c.543+4G= (n.543+4G=)
c.459+4G= (n.459+4G=)
4g.660620G>ACA549125854PDE6Bc.1614+7G>A (n.1614+7G>A)
c.777+7G>A (n.777+7G>A)
c.1833+7G>A (n.1833+7G>A)
c.819+7G>A (n.819+7G>A)
c.543+7G>A (n.543+7G>A)
c.459+7G>A (n.459+7G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v4
4g.660620G=CA1432855503PDE6Bc.1614+7G= (n.1614+7G=)
c.777+7G= (n.777+7G=)
c.1833+7G= (n.1833+7G=)
c.819+7G= (n.819+7G=)
c.543+7G= (n.543+7G=)
c.459+7G= (n.459+7G=)
4g.660622C=CA1432855505PDE6Bc.1614+9C= (n.1614+9C=)
c.777+9C= (n.777+9C=)
c.1833+9C= (n.1833+9C=)
c.819+9C= (n.819+9C=)
c.543+9C= (n.543+9C=)
c.459+9C= (n.459+9C=)
4g.660622C>TCA2794593PDE6Bc.1614+9C>T (n.1614+9C>T)
c.777+9C>T (n.777+9C>T)
c.1833+9C>T (n.1833+9C>T)
c.819+9C>T (n.819+9C>T)
c.543+9C>T (n.543+9C>T)
c.459+9C>T (n.459+9C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.660623A=CA1432855508PDE6Bc.1614+10A= (n.1614+10A=)
c.777+10A= (n.777+10A=)
c.1833+10A= (n.1833+10A=)
c.819+10A= (n.819+10A=)
c.543+10A= (n.543+10A=)
c.459+10A= (n.459+10A=)
4g.660623A>CCA2590977350PDE6Bc.1614+10A>C (n.1614+10A>C)
c.777+10A>C (n.777+10A>C)
c.1833+10A>C (n.1833+10A>C)
c.819+10A>C (n.819+10A>C)
c.543+10A>C (n.543+10A>C)
c.459+10A>C (n.459+10A>C)
 gnomAD v3 gnomAD v4
4g.660623A>TCA2794594PDE6Bc.1614+10A>T (n.1614+10A>T)
c.777+10A>T (n.777+10A>T)
c.1833+10A>T (n.1833+10A>T)
c.819+10A>T (n.819+10A>T)
c.543+10A>T (n.543+10A>T)
c.459+10A>T (n.459+10A>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.660624C>ACA2794595PDE6Bc.1614+11C>A (n.1614+11C>A)
c.777+11C>A (n.777+11C>A)
c.1833+11C>A (n.1833+11C>A)
c.819+11C>A (n.819+11C>A)
c.543+11C>A (n.543+11C>A)
c.459+11C>A (n.459+11C>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.660624C=CA1432855513PDE6Bc.1614+11C= (n.1614+11C=)
c.777+11C= (n.777+11C=)
c.1833+11C= (n.1833+11C=)
c.819+11C= (n.819+11C=)
c.543+11C= (n.543+11C=)
c.459+11C= (n.459+11C=)
4g.660624C>TCA2794596PDE6Bc.1614+11C>T (n.1614+11C>T)
c.777+11C>T (n.777+11C>T)
c.1833+11C>T (n.1833+11C>T)
c.819+11C>T (n.819+11C>T)
c.543+11C>T (n.543+11C>T)
c.459+11C>T (n.459+11C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.660625C=CA1432855521PDE6Bc.1614+12C= (n.1614+12C=)
c.777+12C= (n.777+12C=)
c.1833+12C= (n.1833+12C=)
c.819+12C= (n.819+12C=)
c.543+12C= (n.543+12C=)
c.459+12C= (n.459+12C=)
4g.660625C>GCA2794598PDE6Bc.1614+12C>G (n.1614+12C>G)
c.777+12C>G (n.777+12C>G)
c.1833+12C>G (n.1833+12C>G)
c.819+12C>G (n.819+12C>G)
c.543+12C>G (n.543+12C>G)
c.459+12C>G (n.459+12C>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.660625C>TCA2794597PDE6Bc.1614+12C>T (n.1614+12C>T)
c.777+12C>T (n.777+12C>T)
c.1833+12C>T (n.1833+12C>T)
c.819+12C>T (n.819+12C>T)
c.543+12C>T (n.543+12C>T)
c.459+12C>T (n.459+12C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.660626G>ACA2794599PDE6Bc.1614+13G>A (n.1614+13G>A)
c.777+13G>A (n.777+13G>A)
c.1833+13G>A (n.1833+13G>A)
c.819+13G>A (n.819+13G>A)
c.543+13G>A (n.543+13G>A)
c.459+13G>A (n.459+13G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.660626G=CA1432855530PDE6Bc.1614+13G= (n.1614+13G=)
c.777+13G= (n.777+13G=)
c.1833+13G= (n.1833+13G=)
c.819+13G= (n.819+13G=)
c.543+13G= (n.543+13G=)
c.459+13G= (n.459+13G=)
4g.660626G>TCA549125865PDE6Bc.1614+13G>T (n.1614+13G>T)
c.777+13G>T (n.777+13G>T)
c.1833+13G>T (n.1833+13G>T)
c.819+13G>T (n.819+13G>T)
c.543+13G>T (n.543+13G>T)
c.459+13G>T (n.459+13G>T)
 dbSNP gnomAD v2
4g.660626dupCA2669419693PDE6Bc.1614+13dup (n.1614+13dup)
c.777+13dup (n.777+13dup)
c.1833+13dup (n.1833+13dup)
c.819+13dup (n.819+13dup)
c.543+13dup (n.543+13dup)
c.459+13dup (n.459+13dup)
 gnomAD v4
4g.660627C>TCA2669419694PDE6Bc.1614+14C>T (n.1614+14C>T)
c.777+14C>T (n.777+14C>T)
c.1833+14C>T (n.1833+14C>T)
c.819+14C>T (n.819+14C>T)
c.543+14C>T (n.543+14C>T)
c.459+14C>T (n.459+14C>T)
 gnomAD v4
4g.660628A>GCA2669419695PDE6Bc.1614+15A>G (n.1614+15A>G)
c.777+15A>G (n.777+15A>G)
c.1833+15A>G (n.1833+15A>G)
c.819+15A>G (n.819+15A>G)
c.543+15A>G (n.543+15A>G)
c.459+15A>G (n.459+15A>G)
 gnomAD v4
4g.660629G>ACA797478741PDE6Bc.1614+16G>A (n.1614+16G>A)
c.777+16G>A (n.777+16G>A)
c.1833+16G>A (n.1833+16G>A)
c.819+16G>A (n.819+16G>A)
c.543+16G>A (n.543+16G>A)
c.459+16G>A (n.459+16G>A)
 dbSNP gnomAD v3 gnomAD v4
4g.660629G=CA1432855538PDE6Bc.1614+16G= (n.1614+16G=)
c.777+16G= (n.777+16G=)
c.1833+16G= (n.1833+16G=)
c.819+16G= (n.819+16G=)
c.543+16G= (n.543+16G=)
c.459+16G= (n.459+16G=)
4g.660631delCA2669419696PDE6Bc.1614+18del (n.1614+18del)
c.777+18del (n.777+18del)
c.1833+18del (n.1833+18del)
c.819+18del (n.819+18del)
c.543+18del (n.543+18del)
c.459+18del (n.459+18del)
 gnomAD v4
4g.660630G>CCA2794600PDE6Bc.1614+17G>C (n.1614+17G>C)
c.777+17G>C (n.777+17G>C)
c.1833+17G>C (n.1833+17G>C)
c.819+17G>C (n.819+17G>C)
c.543+17G>C (n.543+17G>C)
c.459+17G>C (n.459+17G>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.660630G=CA1432855541PDE6Bc.1614+17G= (n.1614+17G=)
c.777+17G= (n.777+17G=)
c.1833+17G= (n.1833+17G=)
c.819+17G= (n.819+17G=)
c.543+17G= (n.543+17G=)
c.459+17G= (n.459+17G=)
4g.660631G>ACA549125869PDE6Bc.1614+18G>A (n.1614+18G>A)
c.777+18G>A (n.777+18G>A)
c.1833+18G>A (n.1833+18G>A)
c.819+18G>A (n.819+18G>A)
c.543+18G>A (n.543+18G>A)
c.459+18G>A (n.459+18G>A)
 dbSNP gnomAD v2
4g.660631G=CA1432855545PDE6Bc.1614+18G= (n.1614+18G=)
c.777+18G= (n.777+18G=)
c.1833+18G= (n.1833+18G=)
c.819+18G= (n.819+18G=)
c.543+18G= (n.543+18G=)
c.459+18G= (n.459+18G=)
4g.660632C>ACA2578009740PDE6Bc.1614+19C>A (n.1614+19C>A)
c.777+19C>A (n.777+19C>A)
c.1833+19C>A (n.1833+19C>A)
c.819+19C>A (n.819+19C>A)
c.543+19C>A (n.543+19C>A)
c.459+19C>A (n.459+19C>A)
4g.660632C=CA1432855549PDE6Bc.1614+19C= (n.1614+19C=)
c.777+19C= (n.777+19C=)
c.1833+19C= (n.1833+19C=)
c.819+19C= (n.819+19C=)
c.543+19C= (n.543+19C=)
c.459+19C= (n.459+19C=)
4g.660632C>GCA2794601PDE6Bc.1614+19C>G (n.1614+19C>G)
c.777+19C>G (n.777+19C>G)
c.1833+19C>G (n.1833+19C>G)
c.819+19C>G (n.819+19C>G)
c.543+19C>G (n.543+19C>G)
c.459+19C>G (n.459+19C>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.660632C>TCA2794602PDE6Bc.1614+19C>T (n.1614+19C>T)
c.777+19C>T (n.777+19C>T)
c.1833+19C>T (n.1833+19C>T)
c.819+19C>T (n.819+19C>T)
c.543+19C>T (n.543+19C>T)
c.459+19C>T (n.459+19C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
4g.660633G>ACA2794603PDE6Bc.1614+20G>A (n.1614+20G>A)
c.777+20G>A (n.777+20G>A)
c.1833+20G>A (n.1833+20G>A)
c.819+20G>A (n.819+20G>A)
c.543+20G>A (n.543+20G>A)
c.459+20G>A (n.459+20G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.660633G=CA1432855552PDE6Bc.1614+20G= (n.1614+20G=)
c.777+20G= (n.777+20G=)
c.1833+20G= (n.1833+20G=)
c.819+20G= (n.819+20G=)
c.543+20G= (n.543+20G=)
c.459+20G= (n.459+20G=)
4g.660633G>TCA2578009742PDE6Bc.1614+20G>T (n.1614+20G>T)
c.777+20G>T (n.777+20G>T)
c.1833+20G>T (n.1833+20G>T)
c.819+20G>T (n.819+20G>T)
c.543+20G>T (n.543+20G>T)
c.459+20G>T (n.459+20G>T)
4g.660634C>ACA2669419698PDE6Bc.1614+21C>A (n.1614+21C>A)
c.777+21C>A (n.777+21C>A)
c.1833+21C>A (n.1833+21C>A)
c.819+21C>A (n.819+21C>A)
c.543+21C>A (n.543+21C>A)
c.459+21C>A (n.459+21C>A)
 gnomAD v4
4g.660634C=CA1432855555PDE6Bc.1614+21C= (n.1614+21C=)
c.777+21C= (n.777+21C=)
c.1833+21C= (n.1833+21C=)
c.819+21C= (n.819+21C=)
c.543+21C= (n.543+21C=)
c.459+21C= (n.459+21C=)
4g.660634C>GCA648268443PDE6Bc.1614+21C>G (n.1614+21C>G)
c.777+21C>G (n.777+21C>G)
c.1833+21C>G (n.1833+21C>G)
c.819+21C>G (n.819+21C>G)
c.543+21C>G (n.543+21C>G)
c.459+21C>G (n.459+21C>G)
 COSMIC
4g.660634C>TCA2794604PDE6Bc.1614+21C>T (n.1614+21C>T)
c.777+21C>T (n.777+21C>T)
c.1833+21C>T (n.1833+21C>T)
c.819+21C>T (n.819+21C>T)
c.543+21C>T (n.543+21C>T)
c.459+21C>T (n.459+21C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.660634_660636delinsCATCA1432855558PDE6Bc.1614+21_1614+23delinsCAT (n.1614+21_1614+23delinsCAT)
c.777+21_777+23delinsCAT (n.777+21_777+23delinsCAT)
c.1833+21_1833+23delinsCAT (n.1833+21_1833+23delinsCAT)
c.819+21_819+23delinsCAT (n.819+21_819+23delinsCAT)
c.543+21_543+23delinsCAT (n.543+21_543+23delinsCAT)
c.459+21_459+23delinsCAT (n.459+21_459+23delinsCAT)
4g.660635A=CA1432855561PDE6Bc.1614+22A= (n.1614+22A=)
c.777+22A= (n.777+22A=)
c.1833+22A= (n.1833+22A=)
c.819+22A= (n.819+22A=)
c.543+22A= (n.543+22A=)
c.459+22A= (n.459+22A=)
4g.660635A>GCA797478760PDE6Bc.1614+22A>G (n.1614+22A>G)
c.777+22A>G (n.777+22A>G)
c.1833+22A>G (n.1833+22A>G)
c.819+22A>G (n.819+22A>G)
c.543+22A>G (n.543+22A>G)
c.459+22A>G (n.459+22A>G)
 dbSNP
4g.660636_660637delCA797478762PDE6Bc.1614+23_1614+24del (n.1614+23_1614+24del)
c.777+23_777+24del (n.777+23_777+24del)
c.1833+23_1833+24del (n.1833+23_1833+24del)
c.819+23_819+24del (n.819+23_819+24del)
c.543+23_543+24del (n.543+23_543+24del)
c.459+23_459+24del (n.459+23_459+24del)
 dbSNP
4g.660636T>CCA2669419699PDE6Bc.1614+23T>C (n.1614+23T>C)
c.777+23T>C (n.777+23T>C)
c.1833+23T>C (n.1833+23T>C)
c.819+23T>C (n.819+23T>C)
c.543+23T>C (n.543+23T>C)
c.459+23T>C (n.459+23T>C)
 gnomAD v4
4g.660636T>GCA2794605PDE6Bc.1614+23T>G (n.1614+23T>G)
c.777+23T>G (n.777+23T>G)
c.1833+23T>G (n.1833+23T>G)
c.819+23T>G (n.819+23T>G)
c.543+23T>G (n.543+23T>G)
c.459+23T>G (n.459+23T>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.660636T=CA1432855563PDE6Bc.1614+23T= (n.1614+23T=)
c.777+23T= (n.777+23T=)
c.1833+23T= (n.1833+23T=)
c.819+23T= (n.819+23T=)
c.543+23T= (n.543+23T=)
c.459+23T= (n.459+23T=)
4g.660637A=CA1432855567PDE6Bc.1614+24A= (n.1614+24A=)
c.777+24A= (n.777+24A=)
c.1833+24A= (n.1833+24A=)
c.819+24A= (n.819+24A=)
c.543+24A= (n.543+24A=)
c.459+24A= (n.459+24A=)
4g.660637A>CCA549125877PDE6Bc.1614+24A>C (n.1614+24A>C)
c.777+24A>C (n.777+24A>C)
c.1833+24A>C (n.1833+24A>C)
c.819+24A>C (n.819+24A>C)
c.543+24A>C (n.543+24A>C)
c.459+24A>C (n.459+24A>C)
 dbSNP gnomAD v2 gnomAD v4
4g.660638G>CCA797478770PDE6Bc.1614+25G>C (n.1614+25G>C)
c.777+25G>C (n.777+25G>C)
c.1833+25G>C (n.1833+25G>C)
c.819+25G>C (n.819+25G>C)
c.543+25G>C (n.543+25G>C)
c.459+25G>C (n.459+25G>C)
 dbSNP gnomAD v3 gnomAD v4
4g.660638G=CA1432855569PDE6Bc.1614+25G= (n.1614+25G=)
c.777+25G= (n.777+25G=)
c.1833+25G= (n.1833+25G=)
c.819+25G= (n.819+25G=)
c.543+25G= (n.543+25G=)
c.459+25G= (n.459+25G=)
4g.660639T>ACA2704991686PDE6Bc.1614+26T>A (n.1614+26T>A)
c.777+26T>A (n.777+26T>A)
c.1833+26T>A (n.1833+26T>A)
c.819+26T>A (n.819+26T>A)
c.543+26T>A (n.543+26T>A)
c.459+26T>A (n.459+26T>A)
 dbSNP
4g.660639T>GCA2669419700PDE6Bc.1614+26T>G (n.1614+26T>G)
c.777+26T>G (n.777+26T>G)
c.1833+26T>G (n.1833+26T>G)
c.819+26T>G (n.819+26T>G)
c.543+26T>G (n.543+26T>G)
c.459+26T>G (n.459+26T>G)
 gnomAD v4
4g.660640C>ACA1058394202PDE6Bc.1614+27C>A (n.1614+27C>A)
c.777+27C>A (n.777+27C>A)
c.1833+27C>A (n.1833+27C>A)
c.819+27C>A (n.819+27C>A)
c.543+27C>A (n.543+27C>A)
c.459+27C>A (n.459+27C>A)
 dbSNP gnomAD v3 gnomAD v4
4g.660640C=CA1432855572PDE6Bc.1614+27C= (n.1614+27C=)
c.777+27C= (n.777+27C=)
c.1833+27C= (n.1833+27C=)
c.819+27C= (n.819+27C=)
c.543+27C= (n.543+27C=)
c.459+27C= (n.459+27C=)
4g.660640C>GCA2669419701PDE6Bc.1614+27C>G (n.1614+27C>G)
c.777+27C>G (n.777+27C>G)
c.1833+27C>G (n.1833+27C>G)
c.819+27C>G (n.819+27C>G)
c.543+27C>G (n.543+27C>G)
c.459+27C>G (n.459+27C>G)
 gnomAD v4
4g.660642G>ACA1058394211PDE6Bc.1614+29G>A (n.1614+29G>A)
c.777+29G>A (n.777+29G>A)
c.1833+29G>A (n.1833+29G>A)
c.819+29G>A (n.819+29G>A)
c.543+29G>A (n.543+29G>A)
c.459+29G>A (n.459+29G>A)
 dbSNP gnomAD v3 gnomAD v4
4g.660642G>CCA2794606PDE6Bc.1614+29G>C (n.1614+29G>C)
c.777+29G>C (n.777+29G>C)
c.1833+29G>C (n.1833+29G>C)
c.819+29G>C (n.819+29G>C)
c.543+29G>C (n.543+29G>C)
c.459+29G>C (n.459+29G>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.660642G=CA1432855575PDE6Bc.1614+29G= (n.1614+29G=)
c.777+29G= (n.777+29G=)
c.1833+29G= (n.1833+29G=)
c.819+29G= (n.819+29G=)
c.543+29G= (n.543+29G=)
c.459+29G= (n.459+29G=)
4g.660642G>TCA549125878PDE6Bc.1614+29G>T (n.1614+29G>T)
c.777+29G>T (n.777+29G>T)
c.1833+29G>T (n.1833+29G>T)
c.819+29G>T (n.819+29G>T)
c.543+29G>T (n.543+29G>T)
c.459+29G>T (n.459+29G>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.660642_660643insACA2760112439PDE6Bc.1614+29_1614+30insA (n.1614+29_1614+30insA)
c.777+29_777+30insA (n.777+29_777+30insA)
c.1833+29_1833+30insA (n.1833+29_1833+30insA)
c.819+29_819+30insA (n.819+29_819+30insA)
c.543+29_543+30insA (n.543+29_543+30insA)
c.459+29_459+30insA (n.459+29_459+30insA)
4g.660643G>ACA1432855582PDE6Bc.1614+30G>A (n.1614+30G>A)
c.777+30G>A (n.777+30G>A)
c.1833+30G>A (n.1833+30G>A)
c.819+30G>A (n.819+30G>A)
c.543+30G>A (n.543+30G>A)
c.459+30G>A (n.459+30G>A)
 dbSNP gnomAD v4
4g.660643G=CA1432855579PDE6Bc.1614+30G= (n.1614+30G=)
c.777+30G= (n.777+30G=)
c.1833+30G= (n.1833+30G=)
c.819+30G= (n.819+30G=)
c.543+30G= (n.543+30G=)
c.459+30G= (n.459+30G=)
4g.660644T>ACA2760112440PDE6Bc.1614+31T>A (n.1614+31T>A)
c.777+31T>A (n.777+31T>A)
c.1833+31T>A (n.1833+31T>A)
c.819+31T>A (n.819+31T>A)
c.543+31T>A (n.543+31T>A)
c.459+31T>A (n.459+31T>A)
4g.660645C>ACA2669419702PDE6Bc.1614+32C>A (n.1614+32C>A)
c.777+32C>A (n.777+32C>A)
c.1833+32C>A (n.1833+32C>A)
c.819+32C>A (n.819+32C>A)
c.543+32C>A (n.543+32C>A)
c.459+32C>A (n.459+32C>A)
 gnomAD v4
4g.660645C=CA1432855585PDE6Bc.1614+32C= (n.1614+32C=)
c.777+32C= (n.777+32C=)
c.1833+32C= (n.1833+32C=)
c.819+32C= (n.819+32C=)
c.543+32C= (n.543+32C=)
c.459+32C= (n.459+32C=)
4g.660645C>GCA797478776PDE6Bc.1614+32C>G (n.1614+32C>G)
c.777+32C>G (n.777+32C>G)
c.1833+32C>G (n.1833+32C>G)
c.819+32C>G (n.819+32C>G)
c.543+32C>G (n.543+32C>G)
c.459+32C>G (n.459+32C>G)
 dbSNP gnomAD v3 gnomAD v4
4g.660645C>TCA797478775PDE6Bc.1614+32C>T (n.1614+32C>T)
c.777+32C>T (n.777+32C>T)
c.1833+32C>T (n.1833+32C>T)
c.819+32C>T (n.819+32C>T)
c.543+32C>T (n.543+32C>T)
c.459+32C>T (n.459+32C>T)
 dbSNP gnomAD v4
4g.660646C>ACA2669419703PDE6Bc.1614+33C>A (n.1614+33C>A)
c.777+33C>A (n.777+33C>A)
c.1833+33C>A (n.1833+33C>A)
c.819+33C>A (n.819+33C>A)
c.543+33C>A (n.543+33C>A)
c.459+33C>A (n.459+33C>A)
 gnomAD v4
4g.660646C=CA1432855593PDE6Bc.1614+33C= (n.1614+33C=)
c.777+33C= (n.777+33C=)
c.1833+33C= (n.1833+33C=)
c.819+33C= (n.819+33C=)
c.543+33C= (n.543+33C=)
c.459+33C= (n.459+33C=)
4g.660646C>GCA2669419704PDE6Bc.1614+33C>G (n.1614+33C>G)
c.777+33C>G (n.777+33C>G)
c.1833+33C>G (n.1833+33C>G)
c.819+33C>G (n.819+33C>G)
c.543+33C>G (n.543+33C>G)
c.459+33C>G (n.459+33C>G)
 gnomAD v4
4g.660646C>TCA91087678PDE6Bc.1614+33C>T (n.1614+33C>T)
c.777+33C>T (n.777+33C>T)
c.1833+33C>T (n.1833+33C>T)
c.819+33C>T (n.819+33C>T)
c.543+33C>T (n.543+33C>T)
c.459+33C>T (n.459+33C>T)
 dbSNP gnomAD v4
4g.660646_660647insATACAGGCA2669419705PDE6Bc.1614+33_1614+34insATACAGG (n.1614+33_1614+34insATACAGG)
c.777+33_777+34insATACAGG (n.777+33_777+34insATACAGG)
c.1833+33_1833+34insATACAGG (n.1833+33_1833+34insATACAGG)
c.819+33_819+34insATACAGG (n.819+33_819+34insATACAGG)
c.543+33_543+34insATACAGG (n.543+33_543+34insATACAGG)
c.459+33_459+34insATACAGG (n.459+33_459+34insATACAGG)
 gnomAD v4
4g.660647C>ACA2760112441PDE6Bc.1614+34C>A (n.1614+34C>A)
c.777+34C>A (n.777+34C>A)
c.1833+34C>A (n.1833+34C>A)
c.819+34C>A (n.819+34C>A)
c.543+34C>A (n.543+34C>A)
c.459+34C>A (n.459+34C>A)
4g.660648T>CCA1432855597PDE6Bc.1614+35T>C (n.1614+35T>C)
c.777+35T>C (n.777+35T>C)
c.1833+35T>C (n.1833+35T>C)
c.819+35T>C (n.819+35T>C)
c.543+35T>C (n.543+35T>C)
c.459+35T>C (n.459+35T>C)
 dbSNP gnomAD v4
4g.660648T=CA1432855598PDE6Bc.1614+35T= (n.1614+35T=)
c.777+35T= (n.777+35T=)
c.1833+35T= (n.1833+35T=)
c.819+35T= (n.819+35T=)
c.543+35T= (n.543+35T=)
c.459+35T= (n.459+35T=)
4g.660649dupCA2669419706PDE6Bc.1614+36dup (n.1614+36dup)
c.777+36dup (n.777+36dup)
c.1833+36dup (n.1833+36dup)
c.819+36dup (n.819+36dup)
c.543+36dup (n.543+36dup)
c.459+36dup (n.459+36dup)
 gnomAD v4
4g.660650A>GCA2669419707PDE6Bc.1614+37A>G (n.1614+37A>G)
c.777+37A>G (n.777+37A>G)
c.1833+37A>G (n.1833+37A>G)
c.819+37A>G (n.819+37A>G)
c.543+37A>G (n.543+37A>G)
c.459+37A>G (n.459+37A>G)
 gnomAD v4
4g.660651G>ACA2794607PDE6Bc.1614+38G>A (n.1614+38G>A)
c.777+38G>A (n.777+38G>A)
c.1833+38G>A (n.1833+38G>A)
c.819+38G>A (n.819+38G>A)
c.543+38G>A (n.543+38G>A)
c.459+38G>A (n.459+38G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.660651G=CA1432855603PDE6Bc.1614+38G= (n.1614+38G=)
c.777+38G= (n.777+38G=)
c.1833+38G= (n.1833+38G=)
c.819+38G= (n.819+38G=)
c.543+38G= (n.543+38G=)
c.459+38G= (n.459+38G=)
4g.660651_660652insCCA2669419708PDE6Bc.1614+38_1614+39insC (n.1614+38_1614+39insC)
c.777+38_777+39insC (n.777+38_777+39insC)
c.1833+38_1833+39insC (n.1833+38_1833+39insC)
c.819+38_819+39insC (n.819+38_819+39insC)
c.543+38_543+39insC (n.543+38_543+39insC)
c.459+38_459+39insC (n.459+38_459+39insC)
 gnomAD v4
4g.660652G>ACA2794608PDE6Bc.1614+39G>A (n.1614+39G>A)
c.777+39G>A (n.777+39G>A)
c.1833+39G>A (n.1833+39G>A)
c.819+39G>A (n.819+39G>A)
c.543+39G>A (n.543+39G>A)
c.459+39G>A (n.459+39G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.660652G=CA1432855609PDE6Bc.1614+39G= (n.1614+39G=)
c.777+39G= (n.777+39G=)
c.1833+39G= (n.1833+39G=)
c.819+39G= (n.819+39G=)
c.543+39G= (n.543+39G=)
c.459+39G= (n.459+39G=)
4g.660653C>ACA2669419709PDE6Bc.1614+40C>A (n.1614+40C>A)
c.777+40C>A (n.777+40C>A)
c.1833+40C>A (n.1833+40C>A)
c.819+40C>A (n.819+40C>A)
c.543+40C>A (n.543+40C>A)
c.459+40C>A (n.459+40C>A)
 gnomAD v4
4g.660653C=CA1432855614PDE6Bc.1614+40C= (n.1614+40C=)
c.777+40C= (n.777+40C=)
c.1833+40C= (n.1833+40C=)
c.819+40C= (n.819+40C=)
c.543+40C= (n.543+40C=)
c.459+40C= (n.459+40C=)
4g.660653C>TCA91087694PDE6Bc.1614+40C>T (n.1614+40C>T)
c.777+40C>T (n.777+40C>T)
c.1833+40C>T (n.1833+40C>T)
c.819+40C>T (n.819+40C>T)
c.543+40C>T (n.543+40C>T)
c.459+40C>T (n.459+40C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.660654C>ACA2794609PDE6Bc.1614+41C>A (n.1614+41C>A)
c.777+41C>A (n.777+41C>A)
c.1833+41C>A (n.1833+41C>A)
c.819+41C>A (n.819+41C>A)
c.543+41C>A (n.543+41C>A)
c.459+41C>A (n.459+41C>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.660654C=CA1432855615PDE6Bc.1614+41C= (n.1614+41C=)
c.777+41C= (n.777+41C=)
c.1833+41C= (n.1833+41C=)
c.819+41C= (n.819+41C=)
c.543+41C= (n.543+41C=)
c.459+41C= (n.459+41C=)
4g.660654C>GCA2669419710PDE6Bc.1614+41C>G (n.1614+41C>G)
c.777+41C>G (n.777+41C>G)
c.1833+41C>G (n.1833+41C>G)
c.819+41C>G (n.819+41C>G)
c.543+41C>G (n.543+41C>G)
c.459+41C>G (n.459+41C>G)
 gnomAD v4
4g.660654C>TCA2794610PDE6Bc.1614+41C>T (n.1614+41C>T)
c.777+41C>T (n.777+41C>T)
c.1833+41C>T (n.1833+41C>T)
c.819+41C>T (n.819+41C>T)
c.543+41C>T (n.543+41C>T)
c.459+41C>T (n.459+41C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.660654_660655insAGGAATGACACATCTCCTCAGAGATCA2669419711PDE6Bc.1614+41_1614+42insAGGAATGACACATCTCCTCAGAGAT (n.1614+41_1614+42insAGGAATGACACATCTCCTCAGAGAT)
c.777+41_777+42insAGGAATGACACATCTCCTCAGAGAT (n.777+41_777+42insAGGAATGACACATCTCCTCAGAGAT)
c.1833+41_1833+42insAGGAATGACACATCTCCTCAGAGAT (n.1833+41_1833+42insAGGAATGACACATCTCCTCAGAGAT)
c.819+41_819+42insAGGAATGACACATCTCCTCAGAGAT (n.819+41_819+42insAGGAATGACACATCTCCTCAGAGAT)
c.543+41_543+42insAGGAATGACACATCTCCTCAGAGAT (n.543+41_543+42insAGGAATGACACATCTCCTCAGAGAT)
c.459+41_459+42insAGGAATGACACATCTCCTCAGAGAT (n.459+41_459+42insAGGAATGACACATCTCCTCAGAGAT)
 gnomAD v4
4g.660655G>ACA2794611PDE6Bc.1614+42G>A (n.1614+42G>A)
c.777+42G>A (n.777+42G>A)
c.1833+42G>A (n.1833+42G>A)
c.819+42G>A (n.819+42G>A)
c.543+42G>A (n.543+42G>A)
c.459+42G>A (n.459+42G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
4g.660655G=CA1432855619PDE6Bc.1614+42G= (n.1614+42G=)
c.777+42G= (n.777+42G=)
c.1833+42G= (n.1833+42G=)
c.819+42G= (n.819+42G=)
c.543+42G= (n.543+42G=)
c.459+42G= (n.459+42G=)
4g.660655G>TCA2794612PDE6Bc.1614+42G>T (n.1614+42G>T)
c.777+42G>T (n.777+42G>T)
c.1833+42G>T (n.1833+42G>T)
c.819+42G>T (n.819+42G>T)
c.543+42G>T (n.543+42G>T)
c.459+42G>T (n.459+42G>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.660656C>ACA2669419712PDE6Bc.1614+43C>A (n.1614+43C>A)
c.777+43C>A (n.777+43C>A)
c.1833+43C>A (n.1833+43C>A)
c.819+43C>A (n.819+43C>A)
c.543+43C>A (n.543+43C>A)
c.459+43C>A (n.459+43C>A)
 gnomAD v4
4g.660656C>TCA2669419713PDE6Bc.1614+43C>T (n.1614+43C>T)
c.777+43C>T (n.777+43C>T)
c.1833+43C>T (n.1833+43C>T)
c.819+43C>T (n.819+43C>T)
c.543+43C>T (n.543+43C>T)
c.459+43C>T (n.459+43C>T)
 gnomAD v4
4g.660657C>ACA2578009749PDE6Bc.1614+44C>A (n.1614+44C>A)
c.777+44C>A (n.777+44C>A)
c.1833+44C>A (n.1833+44C>A)
c.819+44C>A (n.819+44C>A)
c.543+44C>A (n.543+44C>A)
c.459+44C>A (n.459+44C>A)
 gnomAD v4
4g.660657C=CA1432855624PDE6Bc.1614+44C= (n.1614+44C=)
c.777+44C= (n.777+44C=)
c.1833+44C= (n.1833+44C=)
c.819+44C= (n.819+44C=)
c.543+44C= (n.543+44C=)
c.459+44C= (n.459+44C=)
4g.660657C>TCA549125879PDE6Bc.1614+44C>T (n.1614+44C>T)
c.777+44C>T (n.777+44C>T)
c.1833+44C>T (n.1833+44C>T)
c.819+44C>T (n.819+44C>T)
c.543+44C>T (n.543+44C>T)
c.459+44C>T (n.459+44C>T)
 dbSNP gnomAD v2 gnomAD v4
4g.660657_660658insTGAGGTGTCTGAGGCTTGGCA2669419714PDE6Bc.1614+44_1614+45insTGAGGTGTCTGAGGCTTGG (n.1614+44_1614+45insTGAGGTGTCTGAGGCTTGG)
c.777+44_777+45insTGAGGTGTCTGAGGCTTGG (n.777+44_777+45insTGAGGTGTCTGAGGCTTGG)
c.1833+44_1833+45insTGAGGTGTCTGAGGCTTGG (n.1833+44_1833+45insTGAGGTGTCTGAGGCTTGG)
c.819+44_819+45insTGAGGTGTCTGAGGCTTGG (n.819+44_819+45insTGAGGTGTCTGAGGCTTGG)
c.543+44_543+45insTGAGGTGTCTGAGGCTTGG (n.543+44_543+45insTGAGGTGTCTGAGGCTTGG)
c.459+44_459+45insTGAGGTGTCTGAGGCTTGG (n.459+44_459+45insTGAGGTGTCTGAGGCTTGG)
 gnomAD v4
4g.660658C>ACA2794613PDE6Bc.1614+45C>A (n.1614+45C>A)
c.777+45C>A (n.777+45C>A)
c.1833+45C>A (n.1833+45C>A)
c.819+45C>A (n.819+45C>A)
c.543+45C>A (n.543+45C>A)
c.459+45C>A (n.459+45C>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.660658C=CA1432855627PDE6Bc.1614+45C= (n.1614+45C=)
c.777+45C= (n.777+45C=)
c.1833+45C= (n.1833+45C=)
c.819+45C= (n.819+45C=)
c.543+45C= (n.543+45C=)
c.459+45C= (n.459+45C=)
4g.660660G>ACA2669419715PDE6Bc.1614+47G>A (n.1614+47G>A)
c.777+47G>A (n.777+47G>A)
c.1833+47G>A (n.1833+47G>A)
c.819+47G>A (n.819+47G>A)
c.543+47G>A (n.543+47G>A)
c.459+47G>A (n.459+47G>A)
 gnomAD v4

Number of alleles fetched