Chr Mutation (hg38) CAid Gene Transcript Linkouts
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=)
4g.660531G>ACA355916057PDE6Bc.1532G>A (p.Cys511Tyr)
c.695G>A (p.Cys232Tyr)
c.1751G>A (p.Cys584Tyr)
c.737G>A (p.Cys246Tyr)
c.461G>A (p.Cys154Tyr)
c.377G>A (p.Cys126Tyr)
 gnomAD v4
4g.660531G>CCA355916059PDE6Bc.1532G>C (p.Cys511Ser)
c.695G>C (p.Cys232Ser)
c.1751G>C (p.Cys584Ser)
c.737G>C (p.Cys246Ser)
c.461G>C (p.Cys154Ser)
c.377G>C (p.Cys126Ser)
4g.660531G>TCA355916061PDE6Bc.1532G>T (p.Cys511Phe)
c.695G>T (p.Cys232Phe)
c.1751G>T (p.Cys584Phe)
c.737G>T (p.Cys246Phe)
c.461G>T (p.Cys154Phe)
c.377G>T (p.Cys126Phe)
 ClinVar gnomAD v4
4g.660532C>ACA355916063PDE6Bc.1533C>A (p.Cys511Ter)
c.696C>A (p.Cys232Ter)
c.1752C>A (p.Cys584Ter)
c.738C>A (p.Cys246Ter)
c.462C>A (p.Cys154Ter)
c.378C>A (p.Cys126Ter)
4g.660532C>GCA355916066PDE6Bc.1533C>G (p.Cys511Trp)
c.696C>G (p.Cys232Trp)
c.1752C>G (p.Cys584Trp)
c.738C>G (p.Cys246Trp)
c.462C>G (p.Cys154Trp)
c.378C>G (p.Cys126Trp)
4g.660532C>TCA437897713PDE6Bc.1533C>T (p.Cys511=)
c.696C>T (p.Cys232=)
c.1752C>T (p.Cys584=)
c.738C>T (p.Cys246=)
c.462C>T (p.Cys154=)
c.378C>T (p.Cys126=)
4g.660533A=CA1432855261PDE6Bc.1534A= (p.Thr512=)
c.697A= (p.Thr233=)
c.1753A= (p.Thr585=)
c.739A= (p.Thr247=)
c.463A= (p.Thr155=)
c.379A= (p.Thr127=)
4g.660533A>CCA355916068PDE6Bc.1534A>C (p.Thr512Pro)
c.697A>C (p.Thr233Pro)
c.1753A>C (p.Thr585Pro)
c.739A>C (p.Thr247Pro)
c.463A>C (p.Thr155Pro)
c.379A>C (p.Thr127Pro)
4g.660533A>GCA355916070PDE6Bc.1534A>G (p.Thr512Ala)
c.697A>G (p.Thr233Ala)
c.1753A>G (p.Thr585Ala)
c.739A>G (p.Thr247Ala)
c.463A>G (p.Thr155Ala)
c.379A>G (p.Thr127Ala)
 dbSNP gnomAD v2 gnomAD v4
4g.660533A>TCA355916073PDE6Bc.1534A>T (p.Thr512Ser)
c.697A>T (p.Thr233Ser)
c.1753A>T (p.Thr585Ser)
c.739A>T (p.Thr247Ser)
c.463A>T (p.Thr155Ser)
c.379A>T (p.Thr127Ser)
4g.660534C>ACA355916082PDE6Bc.1535C>A (p.Thr512Asn)
c.698C>A (p.Thr233Asn)
c.1754C>A (p.Thr585Asn)
c.740C>A (p.Thr247Asn)
c.464C>A (p.Thr155Asn)
c.380C>A (p.Thr127Asn)
4g.660534C=CA1432855264PDE6Bc.1535C= (p.Thr512=)
c.698C= (p.Thr233=)
c.1754C= (p.Thr585=)
c.740C= (p.Thr247=)
c.464C= (p.Thr155=)
c.380C= (p.Thr127=)
4g.660534C>GCA355916079PDE6Bc.1535C>G (p.Thr512Ser)
c.698C>G (p.Thr233Ser)
c.1754C>G (p.Thr585Ser)
c.740C>G (p.Thr247Ser)
c.464C>G (p.Thr155Ser)
c.380C>G (p.Thr127Ser)
 dbSNP gnomAD v2 gnomAD v4
4g.660534C>TCA355916076PDE6Bc.1535C>T (p.Thr512Ile)
c.698C>T (p.Thr233Ile)
c.1754C>T (p.Thr585Ile)
c.740C>T (p.Thr247Ile)
c.464C>T (p.Thr155Ile)
c.380C>T (p.Thr127Ile)
4g.660535C>ACA437897716PDE6Bc.1536C>A (p.Thr512=)
c.699C>A (p.Thr233=)
c.1755C>A (p.Thr585=)
c.741C>A (p.Thr247=)
c.465C>A (p.Thr155=)
c.381C>A (p.Thr127=)
4g.660535C=CA1432855267PDE6Bc.1536C= (p.Thr512=)
c.699C= (p.Thr233=)
c.1755C= (p.Thr585=)
c.741C= (p.Thr247=)
c.465C= (p.Thr155=)
c.381C= (p.Thr127=)
4g.660535C>GCA437897715PDE6Bc.1536C>G (p.Thr512=)
c.699C>G (p.Thr233=)
c.1755C>G (p.Thr585=)
c.741C>G (p.Thr247=)
c.465C>G (p.Thr155=)
c.381C>G (p.Thr127=)
 gnomAD v4
4g.660535C>TCA437897714PDE6Bc.1536C>T (p.Thr512=)
c.699C>T (p.Thr233=)
c.1755C>T (p.Thr585=)
c.741C>T (p.Thr247=)
c.465C>T (p.Thr155=)
c.381C>T (p.Thr127=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
4g.660536G>ACA91087472PDE6Bc.1537G>A (p.Glu513Lys)
c.700G>A (p.Glu234Lys)
c.1756G>A (p.Glu586Lys)
c.742G>A (p.Glu248Lys)
c.466G>A (p.Glu156Lys)
c.382G>A (p.Glu128Lys)
 ClinVar dbSNP gnomAD v4 COSMIC
4g.660536G>CCA2794569PDE6Bc.1537G>C (p.Glu513Gln)
c.700G>C (p.Glu234Gln)
c.1756G>C (p.Glu586Gln)
c.742G>C (p.Glu248Gln)
c.466G>C (p.Glu156Gln)
c.382G>C (p.Glu128Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.660536G=CA1432855272PDE6Bc.1537G= (p.Glu513=)
c.700G= (p.Glu234=)
c.1756G= (p.Glu586=)
c.742G= (p.Glu248=)
c.466G= (p.Glu156=)
c.382G= (p.Glu128=)
4g.660536G>TCA355916089PDE6Bc.1537G>T (p.Glu513Ter)
c.700G>T (p.Glu234Ter)
c.1756G>T (p.Glu586Ter)
c.742G>T (p.Glu248Ter)
c.466G>T (p.Glu156Ter)
c.382G>T (p.Glu128Ter)
4g.660537A=CA1432855279PDE6Bc.1538A= (p.Glu513=)
c.701A= (p.Glu234=)
c.1757A= (p.Glu586=)
c.743A= (p.Glu248=)
c.467A= (p.Glu156=)
c.383A= (p.Glu128=)
4g.660537A>CCA355916093PDE6Bc.1538A>C (p.Glu513Ala)
c.701A>C (p.Glu234Ala)
c.1757A>C (p.Glu586Ala)
c.743A>C (p.Glu248Ala)
c.467A>C (p.Glu156Ala)
c.383A>C (p.Glu128Ala)
 ClinVar dbSNP gnomAD v2 gnomAD v4
4g.660537A>GCA355916095PDE6Bc.1538A>G (p.Glu513Gly)
c.701A>G (p.Glu234Gly)
c.1757A>G (p.Glu586Gly)
c.743A>G (p.Glu248Gly)
c.467A>G (p.Glu156Gly)
c.383A>G (p.Glu128Gly)
4g.660537A>TCA355916097PDE6Bc.1538A>T (p.Glu513Val)
c.701A>T (p.Glu234Val)
c.1757A>T (p.Glu586Val)
c.743A>T (p.Glu248Val)
c.467A>T (p.Glu156Val)
c.383A>T (p.Glu128Val)
4g.660538A>CCA355916099PDE6Bc.1539A>C (p.Glu513Asp)
c.702A>C (p.Glu234Asp)
c.1758A>C (p.Glu586Asp)
c.744A>C (p.Glu248Asp)
c.468A>C (p.Glu156Asp)
c.384A>C (p.Glu128Asp)
4g.660538A>GCA437897718PDE6Bc.1539A>G (p.Glu513=)
c.702A>G (p.Glu234=)
c.1758A>G (p.Glu586=)
c.744A>G (p.Glu248=)
c.468A>G (p.Glu156=)
c.384A>G (p.Glu128=)
4g.660538A>TCA355916100PDE6Bc.1539A>T (p.Glu513Asp)
c.702A>T (p.Glu234Asp)
c.1758A>T (p.Glu586Asp)
c.744A>T (p.Glu248Asp)
c.468A>T (p.Glu156Asp)
c.384A>T (p.Glu128Asp)
4g.660538_660539delinsACCA1432855281PDE6Bc.1539_1540delinsAC (p.Glu513=)
c.702_703delinsAC (p.Glu234=)
c.1758_1759delinsAC (p.Glu586=)
c.744_745delinsAC (p.Glu248=)
c.468_469delinsAC (p.Glu156=)
c.384_385delinsAC (p.Glu128=)
4g.660539delCA220604PDE6Bc.1540del (p.Leu514TrpfsTer?)
c.703del (p.Leu235TrpfsTer?)
c.1759del (p.Leu587TrpfsTer?)
c.745del (p.Leu249TrpfsTer?)
c.469del (p.Leu157TrpfsTer?)
c.385del (p.Leu129TrpfsTer?)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.660539C>ACA355916101PDE6Bc.1540C>A (p.Leu514Met)
c.703C>A (p.Leu235Met)
c.1759C>A (p.Leu587Met)
c.745C>A (p.Leu249Met)
c.469C>A (p.Leu157Met)
c.385C>A (p.Leu129Met)
4g.660539C=CA1432855291PDE6Bc.1540C= (p.Leu514=)
c.703C= (p.Leu235=)
c.1759C= (p.Leu587=)
c.745C= (p.Leu249=)
c.469C= (p.Leu157=)
c.385C= (p.Leu129=)
4g.660539C>GCA2794571PDE6Bc.1540C>G (p.Leu514Val)
c.703C>G (p.Leu235Val)
c.1759C>G (p.Leu587Val)
c.745C>G (p.Leu249Val)
c.469C>G (p.Leu157Val)
c.385C>G (p.Leu129Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.660539C>TCA2794570PDE6Bc.1540C>T (p.Leu514=)
c.703C>T (p.Leu235=)
c.1759C>T (p.Leu587=)
c.745C>T (p.Leu249=)
c.469C>T (p.Leu157=)
c.385C>T (p.Leu129=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.660540delCA355916105PDE6Bc.1541del (p.Leu514ArgfsTer?)
c.704del (p.Leu235ArgfsTer?)
c.1760del (p.Leu587ArgfsTer?)
c.746del (p.Leu249ArgfsTer?)
c.470del (p.Leu157ArgfsTer?)
c.386del (p.Leu129ArgfsTer?)
4g.660540T>ACA355916109PDE6Bc.1541T>A (p.Leu514Gln)
c.704T>A (p.Leu235Gln)
c.1760T>A (p.Leu587Gln)
c.746T>A (p.Leu249Gln)
c.470T>A (p.Leu157Gln)
c.386T>A (p.Leu129Gln)
4g.660540T>CCA355916111PDE6Bc.1541T>C (p.Leu514Pro)
c.704T>C (p.Leu235Pro)
c.1760T>C (p.Leu587Pro)
c.746T>C (p.Leu249Pro)
c.470T>C (p.Leu157Pro)
c.386T>C (p.Leu129Pro)
 ClinVar dbSNP
4g.660540T>GCA2794572PDE6Bc.1541T>G (p.Leu514Arg)
c.704T>G (p.Leu235Arg)
c.1760T>G (p.Leu587Arg)
c.746T>G (p.Leu249Arg)
c.470T>G (p.Leu157Arg)
c.386T>G (p.Leu129Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.660540T=CA1432855295PDE6Bc.1541T= (p.Leu514=)
c.704T= (p.Leu235=)
c.1760T= (p.Leu587=)
c.746T= (p.Leu249=)
c.470T= (p.Leu157=)
c.386T= (p.Leu129=)
4g.660541G>ACA437897725PDE6Bc.1542G>A (p.Leu514=)
c.705G>A (p.Leu235=)
c.1761G>A (p.Leu587=)
c.747G>A (p.Leu249=)
c.471G>A (p.Leu157=)
c.387G>A (p.Leu129=)
 dbSNP
4g.660541G>CCA437897723PDE6Bc.1542G>C (p.Leu514=)
c.705G>C (p.Leu235=)
c.1761G>C (p.Leu587=)
c.747G>C (p.Leu249=)
c.471G>C (p.Leu157=)
c.387G>C (p.Leu129=)
4g.660541G=CA1432855299PDE6Bc.1542G= (p.Leu514=)
c.705G= (p.Leu235=)
c.1761G= (p.Leu587=)
c.747G= (p.Leu249=)
c.471G= (p.Leu157=)
c.387G= (p.Leu129=)
4g.660541G>TCA437897724PDE6Bc.1542G>T (p.Leu514=)
c.705G>T (p.Leu235=)
c.1761G>T (p.Leu587=)
c.747G>T (p.Leu249=)
c.471G>T (p.Leu157=)
c.387G>T (p.Leu129=)
4g.660542G>ACA355916114PDE6Bc.1543G>A (p.Asp515Asn)
c.706G>A (p.Asp236Asn)
c.1762G>A (p.Asp588Asn)
c.748G>A (p.Asp250Asn)
c.472G>A (p.Asp158Asn)
c.388G>A (p.Asp130Asn)
 dbSNP gnomAD v2 gnomAD v4
4g.660542G>CCA355916117PDE6Bc.1543G>C (p.Asp515His)
c.706G>C (p.Asp236His)
c.1762G>C (p.Asp588His)
c.748G>C (p.Asp250His)
c.472G>C (p.Asp158His)
c.388G>C (p.Asp130His)
4g.660542G=CA1432855300PDE6Bc.1543G= (p.Asp515=)
c.706G= (p.Asp236=)
c.1762G= (p.Asp588=)
c.748G= (p.Asp250=)
c.472G= (p.Asp158=)
c.388G= (p.Asp130=)
4g.660542G>TCA355916119PDE6Bc.1543G>T (p.Asp515Tyr)
c.706G>T (p.Asp236Tyr)
c.1762G>T (p.Asp588Tyr)
c.748G>T (p.Asp250Tyr)
c.472G>T (p.Asp158Tyr)
c.388G>T (p.Asp130Tyr)
 dbSNP gnomAD v2
4g.660543A>CCA355916123PDE6Bc.1544A>C (p.Asp515Ala)
c.707A>C (p.Asp236Ala)
c.1763A>C (p.Asp588Ala)
c.749A>C (p.Asp250Ala)
c.473A>C (p.Asp158Ala)
c.389A>C (p.Asp130Ala)
4g.660543A>GCA355916127PDE6Bc.1544A>G (p.Asp515Gly)
c.707A>G (p.Asp236Gly)
c.1763A>G (p.Asp588Gly)
c.749A>G (p.Asp250Gly)
c.473A>G (p.Asp158Gly)
c.389A>G (p.Asp130Gly)
4g.660543A>TCA355916128PDE6Bc.1544A>T (p.Asp515Val)
c.707A>T (p.Asp236Val)
c.1763A>T (p.Asp588Val)
c.749A>T (p.Asp250Val)
c.473A>T (p.Asp158Val)
c.389A>T (p.Asp130Val)
4g.660544C>ACA355916130PDE6Bc.1545C>A (p.Asp515Glu)
c.708C>A (p.Asp236Glu)
c.1764C>A (p.Asp588Glu)
c.750C>A (p.Asp250Glu)
c.474C>A (p.Asp158Glu)
c.390C>A (p.Asp130Glu)
4g.660544C>GCA355916134PDE6Bc.1545C>G (p.Asp515Glu)
c.708C>G (p.Asp236Glu)
c.1764C>G (p.Asp588Glu)
c.750C>G (p.Asp250Glu)
c.474C>G (p.Asp158Glu)
c.390C>G (p.Asp130Glu)
4g.660544C>TCA437897727PDE6Bc.1545C>T (p.Asp515=)
c.708C>T (p.Asp236=)
c.1764C>T (p.Asp588=)
c.750C>T (p.Asp250=)
c.474C>T (p.Asp158=)
c.390C>T (p.Asp130=)
4g.660545C>ACA355916136PDE6Bc.1546C>A (p.Leu516Met)
c.709C>A (p.Leu237Met)
c.1765C>A (p.Leu589Met)
c.751C>A (p.Leu251Met)
c.475C>A (p.Leu159Met)
c.391C>A (p.Leu131Met)
4g.660545C>GCA355916139PDE6Bc.1546C>G (p.Leu516Val)
c.709C>G (p.Leu237Val)
c.1765C>G (p.Leu589Val)
c.751C>G (p.Leu251Val)
c.475C>G (p.Leu159Val)
c.391C>G (p.Leu131Val)
4g.660545C>TCA437897728PDE6Bc.1546C>T (p.Leu516=)
c.709C>T (p.Leu237=)
c.1765C>T (p.Leu589=)
c.751C>T (p.Leu251=)
c.475C>T (p.Leu159=)
c.391C>T (p.Leu131=)
4g.660546T>ACA355916143PDE6Bc.1547T>A (p.Leu516Gln)
c.710T>A (p.Leu237Gln)
c.1766T>A (p.Leu589Gln)
c.752T>A (p.Leu251Gln)
c.476T>A (p.Leu159Gln)
c.392T>A (p.Leu131Gln)
4g.660546T>CCA355916145PDE6Bc.1547T>C (p.Leu516Pro)
c.710T>C (p.Leu237Pro)
c.1766T>C (p.Leu589Pro)
c.752T>C (p.Leu251Pro)
c.476T>C (p.Leu159Pro)
c.392T>C (p.Leu131Pro)
 ClinVar dbSNP gnomAD v4
4g.660546T>GCA355916149PDE6Bc.1547T>G (p.Leu516Arg)
c.710T>G (p.Leu237Arg)
c.1766T>G (p.Leu589Arg)
c.752T>G (p.Leu251Arg)
c.476T>G (p.Leu159Arg)
c.392T>G (p.Leu131Arg)
4g.660546T=CA1432855306PDE6Bc.1547T= (p.Leu516=)
c.710T= (p.Leu237=)
c.1766T= (p.Leu589=)
c.752T= (p.Leu251=)
c.476T= (p.Leu159=)
c.392T= (p.Leu131=)
4g.660547G>ACA437897729PDE6Bc.1548G>A (p.Leu516=)
c.711G>A (p.Leu237=)
c.1767G>A (p.Leu589=)
c.753G>A (p.Leu251=)
c.477G>A (p.Leu159=)
c.393G>A (p.Leu131=)
 gnomAD v4
4g.660547G>CCA437897732PDE6Bc.1548G>C (p.Leu516=)
c.711G>C (p.Leu237=)
c.1767G>C (p.Leu589=)
c.753G>C (p.Leu251=)
c.477G>C (p.Leu159=)
c.393G>C (p.Leu131=)
4g.660547G>TCA437897730PDE6Bc.1548G>T (p.Leu516=)
c.711G>T (p.Leu237=)
c.1767G>T (p.Leu589=)
c.753G>T (p.Leu251=)
c.477G>T (p.Leu159=)
c.393G>T (p.Leu131=)
4g.660548G>ACA91087497PDE6Bc.1549G>A (p.Val517Ile)
c.712G>A (p.Val238Ile)
c.1768G>A (p.Val590Ile)
c.754G>A (p.Val252Ile)
c.478G>A (p.Val160Ile)
c.394G>A (p.Val132Ile)
 dbSNP gnomAD v3 gnomAD v4
4g.660548G>CCA355916154PDE6Bc.1549G>C (p.Val517Leu)
c.712G>C (p.Val238Leu)
c.1768G>C (p.Val590Leu)
c.754G>C (p.Val252Leu)
c.478G>C (p.Val160Leu)
c.394G>C (p.Val132Leu)
4g.660548G=CA1432855309PDE6Bc.1549G= (p.Val517=)
c.712G= (p.Val238=)
c.1768G= (p.Val590=)
c.754G= (p.Val252=)
c.478G= (p.Val160=)
c.394G= (p.Val132=)
4g.660548G>TCA355916152PDE6Bc.1549G>T (p.Val517Phe)
c.712G>T (p.Val238Phe)
c.1768G>T (p.Val590Phe)
c.754G>T (p.Val252Phe)
c.478G>T (p.Val160Phe)
c.394G>T (p.Val132Phe)
4g.660549T>ACA355916159PDE6Bc.1550T>A (p.Val517Asp)
c.713T>A (p.Val238Asp)
c.1769T>A (p.Val590Asp)
c.755T>A (p.Val252Asp)
c.479T>A (p.Val160Asp)
c.395T>A (p.Val132Asp)
4g.660549T>CCA355916161PDE6Bc.1550T>C (p.Val517Ala)
c.713T>C (p.Val238Ala)
c.1769T>C (p.Val590Ala)
c.755T>C (p.Val252Ala)
c.479T>C (p.Val160Ala)
c.395T>C (p.Val132Ala)
4g.660549T>GCA355916164PDE6Bc.1550T>G (p.Val517Gly)
c.713T>G (p.Val238Gly)
c.1769T>G (p.Val590Gly)
c.755T>G (p.Val252Gly)
c.479T>G (p.Val160Gly)
c.395T>G (p.Val132Gly)
4g.660550C>ACA437897733PDE6Bc.1551C>A (p.Val517=)
c.714C>A (p.Val238=)
c.1770C>A (p.Val590=)
c.756C>A (p.Val252=)
c.480C>A (p.Val160=)
c.396C>A (p.Val132=)
4g.660550C=CA1432855314PDE6Bc.1551C= (p.Val517=)
c.714C= (p.Val238=)
c.1770C= (p.Val590=)
c.756C= (p.Val252=)
c.480C= (p.Val160=)
c.396C= (p.Val132=)
4g.660550C>GCA437897734PDE6Bc.1551C>G (p.Val517=)
c.714C>G (p.Val238=)
c.1770C>G (p.Val590=)
c.756C>G (p.Val252=)
c.480C>G (p.Val160=)
c.396C>G (p.Val132=)
 dbSNP
4g.660550C>TCA437897735PDE6Bc.1551C>T (p.Val517=)
c.714C>T (p.Val238=)
c.1770C>T (p.Val590=)
c.756C>T (p.Val252=)
c.480C>T (p.Val160=)
c.396C>T (p.Val132=)
4g.660551A>CCA355916167PDE6Bc.1552A>C (p.Lys518Gln)
c.715A>C (p.Lys239Gln)
c.1771A>C (p.Lys591Gln)
c.757A>C (p.Lys253Gln)
c.481A>C (p.Lys161Gln)
c.397A>C (p.Lys133Gln)
4g.660551A>GCA355916170PDE6Bc.1552A>G (p.Lys518Glu)
c.715A>G (p.Lys239Glu)
c.1771A>G (p.Lys591Glu)
c.757A>G (p.Lys253Glu)
c.481A>G (p.Lys161Glu)
c.397A>G (p.Lys133Glu)
4g.660551A>TCA355916172PDE6Bc.1552A>T (p.Lys518Ter)
c.715A>T (p.Lys239Ter)
c.1771A>T (p.Lys591Ter)
c.757A>T (p.Lys253Ter)
c.481A>T (p.Lys161Ter)
c.397A>T (p.Lys133Ter)
 gnomAD v4
4g.660552A=CA1432855322PDE6Bc.1553A= (p.Lys518=)
c.716A= (p.Lys239=)
c.1772A= (p.Lys591=)
c.758A= (p.Lys253=)
c.482A= (p.Lys161=)
c.398A= (p.Lys133=)
4g.660552A>CCA355916176PDE6Bc.1553A>C (p.Lys518Thr)
c.716A>C (p.Lys239Thr)
c.1772A>C (p.Lys591Thr)
c.758A>C (p.Lys253Thr)
c.482A>C (p.Lys161Thr)
c.398A>C (p.Lys133Thr)
 gnomAD v4
4g.660552A>GCA355916178PDE6Bc.1553A>G (p.Lys518Arg)
c.716A>G (p.Lys239Arg)
c.1772A>G (p.Lys591Arg)
c.758A>G (p.Lys253Arg)
c.482A>G (p.Lys161Arg)
c.398A>G (p.Lys133Arg)
4g.660552A>TCA2794573PDE6Bc.1553A>T (p.Lys518Ile)
c.716A>T (p.Lys239Ile)
c.1772A>T (p.Lys591Ile)
c.758A>T (p.Lys253Ile)
c.482A>T (p.Lys161Ile)
c.398A>T (p.Lys133Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.660553A>CCA355916182PDE6Bc.1554A>C (p.Lys518Asn)
c.717A>C (p.Lys239Asn)
c.1773A>C (p.Lys591Asn)
c.759A>C (p.Lys253Asn)
c.483A>C (p.Lys161Asn)
c.399A>C (p.Lys133Asn)
4g.660553A>GCA437897737PDE6Bc.1554A>G (p.Lys518=)
c.717A>G (p.Lys239=)
c.1773A>G (p.Lys591=)
c.759A>G (p.Lys253=)
c.483A>G (p.Lys161=)
c.399A>G (p.Lys133=)
4g.660553A>TCA355916184PDE6Bc.1554A>T (p.Lys518Asn)
c.717A>T (p.Lys239Asn)
c.1773A>T (p.Lys591Asn)
c.759A>T (p.Lys253Asn)
c.483A>T (p.Lys161Asn)
c.399A>T (p.Lys133Asn)
4g.660554T>ACA355916187PDE6Bc.1555T>A (p.Cys519Ser)
c.718T>A (p.Cys240Ser)
c.1774T>A (p.Cys592Ser)
c.760T>A (p.Cys254Ser)
c.484T>A (p.Cys162Ser)
c.400T>A (p.Cys134Ser)
4g.660554T>CCA355916189PDE6Bc.1555T>C (p.Cys519Arg)
c.718T>C (p.Cys240Arg)
c.1774T>C (p.Cys592Arg)
c.760T>C (p.Cys254Arg)
c.484T>C (p.Cys162Arg)
c.400T>C (p.Cys134Arg)
 dbSNP gnomAD v3 gnomAD v4
4g.660554T>GCA355916190PDE6Bc.1555T>G (p.Cys519Gly)
c.718T>G (p.Cys240Gly)
c.1774T>G (p.Cys592Gly)
c.760T>G (p.Cys254Gly)
c.484T>G (p.Cys162Gly)
c.400T>G (p.Cys134Gly)
4g.660554T=CA1432855326PDE6Bc.1555T= (p.Cys519=)
c.718T= (p.Cys240=)
c.1774T= (p.Cys592=)
c.760T= (p.Cys254=)
c.484T= (p.Cys162=)
c.400T= (p.Cys134=)
4g.660555G>ACA355916198PDE6Bc.1556G>A (p.Cys519Tyr)
c.719G>A (p.Cys240Tyr)
c.1775G>A (p.Cys592Tyr)
c.761G>A (p.Cys254Tyr)
c.485G>A (p.Cys162Tyr)
c.401G>A (p.Cys134Tyr)
 gnomAD v4
4g.660555G>CCA355916200PDE6Bc.1556G>C (p.Cys519Ser)
c.719G>C (p.Cys240Ser)
c.1775G>C (p.Cys592Ser)
c.761G>C (p.Cys254Ser)
c.485G>C (p.Cys162Ser)
c.401G>C (p.Cys134Ser)
4g.660555G>TCA355916196PDE6Bc.1556G>T (p.Cys519Phe)
c.719G>T (p.Cys240Phe)
c.1775G>T (p.Cys592Phe)
c.761G>T (p.Cys254Phe)
c.485G>T (p.Cys162Phe)
c.401G>T (p.Cys134Phe)
4g.660556T>ACA355916203PDE6Bc.1557T>A (p.Cys519Ter)
c.720T>A (p.Cys240Ter)
c.1776T>A (p.Cys592Ter)
c.762T>A (p.Cys254Ter)
c.486T>A (p.Cys162Ter)
c.402T>A (p.Cys134Ter)
4g.660556T>CCA437897738PDE6Bc.1557T>C (p.Cys519=)
c.720T>C (p.Cys240=)
c.1776T>C (p.Cys592=)
c.762T>C (p.Cys254=)
c.486T>C (p.Cys162=)
c.402T>C (p.Cys134=)
 gnomAD v4
4g.660556T>GCA355916204PDE6Bc.1557T>G (p.Cys519Trp)
c.720T>G (p.Cys240Trp)
c.1776T>G (p.Cys592Trp)
c.762T>G (p.Cys254Trp)
c.486T>G (p.Cys162Trp)
c.402T>G (p.Cys134Trp)
4g.660557G>ACA355916207PDE6Bc.1558G>A (p.Gly520Ser)
c.721G>A (p.Gly241Ser)
c.1777G>A (p.Gly593Ser)
c.763G>A (p.Gly255Ser)
c.487G>A (p.Gly163Ser)
c.403G>A (p.Gly135Ser)
4g.660557G>CCA355916209PDE6Bc.1558G>C (p.Gly520Arg)
c.721G>C (p.Gly241Arg)
c.1777G>C (p.Gly593Arg)
c.763G>C (p.Gly255Arg)
c.487G>C (p.Gly163Arg)
c.403G>C (p.Gly135Arg)
4g.660557G>TCA355916212PDE6Bc.1558G>T (p.Gly520Cys)
c.721G>T (p.Gly241Cys)
c.1777G>T (p.Gly593Cys)
c.763G>T (p.Gly255Cys)
c.487G>T (p.Gly163Cys)
c.403G>T (p.Gly135Cys)
4g.660558G>ACA355916214PDE6Bc.1559G>A (p.Gly520Asp)
c.722G>A (p.Gly241Asp)
c.1778G>A (p.Gly593Asp)
c.764G>A (p.Gly255Asp)
c.488G>A (p.Gly163Asp)
c.404G>A (p.Gly135Asp)
 ClinVar
4g.660558G>CCA355916216PDE6Bc.1559G>C (p.Gly520Ala)
c.722G>C (p.Gly241Ala)
c.1778G>C (p.Gly593Ala)
c.764G>C (p.Gly255Ala)
c.488G>C (p.Gly163Ala)
c.404G>C (p.Gly135Ala)
4g.660558G>TCA355916217PDE6Bc.1559G>T (p.Gly520Val)
c.722G>T (p.Gly241Val)
c.1778G>T (p.Gly593Val)
c.764G>T (p.Gly255Val)
c.488G>T (p.Gly163Val)
c.404G>T (p.Gly135Val)
4g.660559C>ACA437897740PDE6Bc.1560C>A (p.Gly520=)
c.723C>A (p.Gly241=)
c.1779C>A (p.Gly593=)
c.765C>A (p.Gly255=)
c.489C>A (p.Gly163=)
c.405C>A (p.Gly135=)
4g.660559C>GCA437897741PDE6Bc.1560C>G (p.Gly520=)
c.723C>G (p.Gly241=)
c.1779C>G (p.Gly593=)
c.765C>G (p.Gly255=)
c.489C>G (p.Gly163=)
c.405C>G (p.Gly135=)
4g.660559C>TCA437897742PDE6Bc.1560C>T (p.Gly520=)
c.723C>T (p.Gly241=)
c.1779C>T (p.Gly593=)
c.765C>T (p.Gly255=)
c.489C>T (p.Gly163=)
c.405C>T (p.Gly135=)
 gnomAD v4
4g.660560A>CCA355916219PDE6Bc.1561A>C (p.Ile521Leu)
c.724A>C (p.Ile242Leu)
c.1780A>C (p.Ile594Leu)
c.766A>C (p.Ile256Leu)
c.490A>C (p.Ile164Leu)
c.406A>C (p.Ile136Leu)
4g.660560A>GCA355916222PDE6Bc.1561A>G (p.Ile521Val)
c.724A>G (p.Ile242Val)
c.1780A>G (p.Ile594Val)
c.766A>G (p.Ile256Val)
c.490A>G (p.Ile164Val)
c.406A>G (p.Ile136Val)
4g.660560A>TCA355916228PDE6Bc.1561A>T (p.Ile521Phe)
c.724A>T (p.Ile242Phe)
c.1780A>T (p.Ile594Phe)
c.766A>T (p.Ile256Phe)
c.490A>T (p.Ile164Phe)
c.406A>T (p.Ile136Phe)
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=)

Number of alleles fetched