Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.68444573A>CCA340747625RPE65c.453T>G (p.Phe151Leu)
c.177T>G (p.Phe59Leu)
1g.68444573A>GCA418282696RPE65c.453T>C (p.Phe151=)
c.177T>C (p.Phe59=)
1g.68444573A>TCA340747622RPE65c.453T>A (p.Phe151Leu)
c.177T>A (p.Phe59Leu)
1g.68444574A>CCA340747627RPE65c.452T>G (p.Phe151Cys)
c.176T>G (p.Phe59Cys)
1g.68444574A>GCA340747630RPE65c.452T>C (p.Phe151Ser)
c.176T>C (p.Phe59Ser)
1g.68444574A>TCA340747632RPE65c.452T>A (p.Phe151Tyr)
c.176T>A (p.Phe59Tyr)
 gnomAD v4
1g.68444575A=CA1173563396RPE65c.451T= (p.Phe151=)
c.175T= (p.Phe59=)
1g.68444575A>CCA340747635RPE65c.451T>G (p.Phe151Val)
c.175T>G (p.Phe59Val)
1g.68444575A>GCA340747636RPE65c.451T>C (p.Phe151Leu)
c.175T>C (p.Phe59Leu)
 dbSNP
1g.68444575A>TCA340747639RPE65c.451T>A (p.Phe151Ile)
c.175T>A (p.Phe59Ile)
1g.68444576G>ACA902505RPE65c.450C>T (p.Asn150=)
c.174C>T (p.Asn58=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.68444576G>CCA340747645RPE65c.450C>G (p.Asn150Lys)
c.174C>G (p.Asn58Lys)
1g.68444576G=CA1143700994RPE65c.450C= (p.Asn150=)
c.174C= (p.Asn58=)
1g.68444576G>TCA340747642RPE65c.450C>A (p.Asn150Lys)
c.174C>A (p.Asn58Lys)
 gnomAD v4
1g.68444577T>ACA340747650RPE65c.449A>T (p.Asn150Ile)
c.173A>T (p.Asn58Ile)
 COSMIC
1g.68444577T>CCA23574788RPE65c.449A>G (p.Asn150Ser)
c.173A>G (p.Asn58Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.68444577T>GCA340747654RPE65c.449A>C (p.Asn150Thr)
c.173A>C (p.Asn58Thr)
1g.68444577T=CA1173563397RPE65c.449A= (p.Asn150=)
c.173A= (p.Asn58=)
1g.68444578T>ACA340747659RPE65c.448A>T (p.Asn150Tyr)
c.172A>T (p.Asn58Tyr)
1g.68444578T>CCA340747661RPE65c.448A>G (p.Asn150Asp)
c.172A>G (p.Asn58Asp)
1g.68444578T>GCA340747663RPE65c.448A>C (p.Asn150His)
c.172A>C (p.Asn58His)
1g.68444579G>ACA418282697RPE65c.447C>T (p.Thr149=)
c.171C>T (p.Thr57=)
 ClinVar dbSNP
1g.68444579G>CCA418282698RPE65c.447C>G (p.Thr149=)
c.171C>G (p.Thr57=)
 dbSNP
1g.68444579G=CA1173563398RPE65c.447C= (p.Thr149=)
c.171C= (p.Thr57=)
1g.68444579G>TCA902506RPE65c.447C>A (p.Thr149=)
c.171C>A (p.Thr57=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.68444580G>ACA340747670RPE65c.446C>T (p.Thr149Ile)
c.170C>T (p.Thr57Ile)
1g.68444580G>CCA340747675RPE65c.446C>G (p.Thr149Ser)
c.170C>G (p.Thr57Ser)
1g.68444580G>TCA340747672RPE65c.446C>A (p.Thr149Asn)
c.170C>A (p.Thr57Asn)
 gnomAD v4
1g.68444580_68444582delinsGTCCA1173563399RPE65c.444_446delinsGAC (p.Glu148=)
c.168_170delinsGAC (p.Glu56=)
1g.68444581T>ACA340747678RPE65c.445A>T (p.Thr149Ser)
c.169A>T (p.Thr57Ser)
1g.68444581T>CCA23574806RPE65c.445A>G (p.Thr149Ala)
c.169A>G (p.Thr57Ala)
 dbSNP
1g.68444581T>GCA340747681RPE65c.445A>C (p.Thr149Pro)
c.169A>C (p.Thr57Pro)
1g.68444581T=CA1173563401RPE65c.445A= (p.Thr149=)
c.169A= (p.Thr57=)
1g.68444584_68444585delCA1173563400RPE65c.444_445del (p.Glu148AspfsTer8)
c.168_169del (p.Glu56AspfsTer8)
 ClinVar dbSNP
1g.68444582C>ACA226553RPE65c.444G>T (p.Glu148Asp)
c.168G>T (p.Glu56Asp)
 ClinVar dbSNP
1g.68444582C=CA1140725789RPE65c.444G= (p.Glu148=)
c.168G= (p.Glu56=)
1g.68444582C>GCA340747683RPE65c.444G>C (p.Glu148Asp)
c.168G>C (p.Glu56Asp)
1g.68444582C>TCA418282699RPE65c.444G>A (p.Glu148=)
c.168G>A (p.Glu56=)
1g.68444583T>ACA340747686RPE65c.443A>T (p.Glu148Val)
c.167A>T (p.Glu56Val)
1g.68444583T>CCA340747687RPE65c.443A>G (p.Glu148Gly)
c.167A>G (p.Glu56Gly)
 gnomAD v4
1g.68444583T>GCA340747691RPE65c.443A>C (p.Glu148Ala)
c.167A>C (p.Glu56Ala)
1g.68444584C>ACA340747693RPE65c.442G>T (p.Glu148Ter)
c.166G>T (p.Glu56Ter)
1g.68444584C>GCA340747695RPE65c.442G>C (p.Glu148Gln)
c.166G>C (p.Glu56Gln)
 gnomAD v4
1g.68444584C>TCA340747698RPE65c.442G>A (p.Glu148Lys)
c.166G>A (p.Glu56Lys)
1g.68444584_68444586delinsCTGCA1173563402RPE65c.440_442delinsCAG (p.Thr147=)
c.164_166delinsCAG (p.Thr55=)
1g.68444585T>ACA418282701RPE65c.441A>T (p.Thr147=)
c.165A>T (p.Thr55=)
1g.68444585T>CCA902507RPE65c.441A>G (p.Thr147=)
c.165A>G (p.Thr55=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.68444585T>GCA418282700RPE65c.441A>C (p.Thr147=)
c.165A>C (p.Thr55=)
1g.68444585T=CA1142744570RPE65c.441A= (p.Thr147=)
c.165A= (p.Thr55=)
1g.68444587_68444588delCA523301794RPE65c.440_441del (p.Thr147ArgfsTer9)
c.164_165del (p.Thr55ArgfsTer9)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.68444586G>ACA340747704RPE65c.440C>T (p.Thr147Ile)
c.164C>T (p.Thr55Ile)
 dbSNP gnomAD v2 gnomAD v4
1g.68444586G>CCA340747710RPE65c.440C>G (p.Thr147Arg)
c.164C>G (p.Thr55Arg)
1g.68444586G=CA1173563403RPE65c.440C= (p.Thr147=)
c.164C= (p.Thr55=)
1g.68444586G>TCA340747706RPE65c.440C>A (p.Thr147Lys)
c.164C>A (p.Thr55Lys)
 gnomAD v4
1g.68444587T>ACA340747713RPE65c.439A>T (p.Thr147Ser)
c.163A>T (p.Thr55Ser)
 gnomAD v4
1g.68444587T>CCA340747715RPE65c.439A>G (p.Thr147Ala)
c.163A>G (p.Thr55Ala)
 gnomAD v4
1g.68444587T>GCA340747719RPE65c.439A>C (p.Thr147Pro)
c.163A>C (p.Thr55Pro)
1g.68444588G>ACA418282702RPE65c.438C>T (p.Cys146=)
c.162C>T (p.Cys54=)
1g.68444588G>CCA340747722RPE65c.438C>G (p.Cys146Trp)
c.162C>G (p.Cys54Trp)
1g.68444588G>TCA340747726RPE65c.438C>A (p.Cys146Ter)
c.162C>A (p.Cys54Ter)
 COSMIC
1g.68444589C>ACA340747741RPE65c.437G>T (p.Cys146Phe)
c.161G>T (p.Cys54Phe)
1g.68444589C=CA1173563404RPE65c.437G= (p.Cys146=)
c.161G= (p.Cys54=)
1g.68444589C>GCA340747738RPE65c.437G>C (p.Cys146Ser)
c.161G>C (p.Cys54Ser)
1g.68444589C>TCA340747730RPE65c.437G>A (p.Cys146Tyr)
c.161G>A (p.Cys54Tyr)
 dbSNP gnomAD v4
1g.68444590A>CCA340747743RPE65c.436T>G (p.Cys146Gly)
c.160T>G (p.Cys54Gly)
1g.68444590A>GCA340747745RPE65c.436T>C (p.Cys146Arg)
c.160T>C (p.Cys54Arg)
1g.68444590A>TCA340747748RPE65c.436T>A (p.Cys146Ser)
c.160T>A (p.Cys54Ser)
 gnomAD v4
1g.68444591A>CCA418282703RPE65c.435T>G (p.Ala145=)
c.159T>G (p.Ala53=)
1g.68444591A>GCA418282706RPE65c.435T>C (p.Ala145=)
c.159T>C (p.Ala53=)
 ClinVar dbSNP
1g.68444591A>TCA418282705RPE65c.435T>A (p.Ala145=)
c.159T>A (p.Ala53=)
1g.68444592G>ACA340747751RPE65c.434C>T (p.Ala145Val)
c.158C>T (p.Ala53Val)
 ClinVar
1g.68444592G>CCA340747752RPE65c.434C>G (p.Ala145Gly)
c.158C>G (p.Ala53Gly)
1g.68444592G>TCA340747756RPE65c.434C>A (p.Ala145Asp)
c.158C>A (p.Ala53Asp)
 ClinVar
1g.68444593C>ACA340747759RPE65c.433G>T (p.Ala145Ser)
c.157G>T (p.Ala53Ser)
 dbSNP gnomAD v3 gnomAD v4
1g.68444593C=CA1173563405RPE65c.433G= (p.Ala145=)
c.157G= (p.Ala53=)
1g.68444593C>GCA340747763RPE65c.433G>C (p.Ala145Pro)
c.157G>C (p.Ala53Pro)
 ClinVar dbSNP
1g.68444593C>TCA902508RPE65c.433G>A (p.Ala145Thr)
c.157G>A (p.Ala53Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.68444594G>ACA226551RPE65c.432C>T (p.Tyr144=)
c.156C>T (p.Tyr52=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.68444594G>CCA340747768RPE65c.432C>G (p.Tyr144Ter)
c.156C>G (p.Tyr52Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.68444594G=CA1140630040RPE65c.432C= (p.Tyr144=)
c.156C= (p.Tyr52=)
1g.68444594G>TCA340747770RPE65c.432C>A (p.Tyr144Ter)
c.156C>A (p.Tyr52Ter)
1g.68444595T>ACA340747773RPE65c.431A>T (p.Tyr144Phe)
c.155A>T (p.Tyr52Phe)
1g.68444595T>CCA340747776RPE65c.431A>G (p.Tyr144Cys)
c.155A>G (p.Tyr52Cys)
1g.68444595T>GCA340747779RPE65c.431A>C (p.Tyr144Ser)
c.155A>C (p.Tyr52Ser)
1g.68444596A=CA1140725790RPE65c.430T= (p.Tyr144=)
c.154T= (p.Tyr52=)
1g.68444596A>CCA226550RPE65c.430T>G (p.Tyr144Asp)
c.154T>G (p.Tyr52Asp)
 ClinVar dbSNP gnomAD v4
1g.68444596A>GCA340747783RPE65c.430T>C (p.Tyr144His)
c.154T>C (p.Tyr52His)
1g.68444596A>TCA340747786RPE65c.430T>A (p.Tyr144Asn)
c.154T>A (p.Tyr52Asn)
1g.68444597G>ACA418282707RPE65c.429C>T (p.Tyr143=)
c.153C>T (p.Tyr51=)
 gnomAD v4
1g.68444597G>CCA340747789RPE65c.429C>G (p.Tyr143Ter)
c.153C>G (p.Tyr51Ter)
1g.68444597G>TCA340747790RPE65c.429C>A (p.Tyr143Ter)
c.153C>A (p.Tyr51Ter)
1g.68444598T>ACA340747793RPE65c.428A>T (p.Tyr143Phe)
c.152A>T (p.Tyr51Phe)
1g.68444598T>CCA340747798RPE65c.428A>G (p.Tyr143Cys)
c.152A>G (p.Tyr51Cys)
1g.68444598T>GCA340747795RPE65c.428A>C (p.Tyr143Ser)
c.152A>C (p.Tyr51Ser)
1g.68444599A>CCA340747802RPE65c.427T>G (p.Tyr143Asp)
c.151T>G (p.Tyr51Asp)
1g.68444599A>GCA340747808RPE65c.427T>C (p.Tyr143His)
c.151T>C (p.Tyr51His)
1g.68444599A>TCA340747805RPE65c.427T>A (p.Tyr143Asn)
c.151T>A (p.Tyr51Asn)
 gnomAD v4
1g.68444600A>CCA340747812RPE65c.426T>G (p.Asp142Glu)
c.150T>G (p.Asp50Glu)
1g.68444600A>GCA418282709RPE65c.426T>C (p.Asp142=)
c.150T>C (p.Asp50=)
1g.68444600A>TCA340747815RPE65c.426T>A (p.Asp142Glu)
c.150T>A (p.Asp50Glu)
1g.68444601T>ACA340747820RPE65c.425A>T (p.Asp142Val)
c.149A>T (p.Asp50Val)
 ClinVar dbSNP gnomAD v4
1g.68444601T>CCA340747822RPE65c.425A>G (p.Asp142Gly)
c.149A>G (p.Asp50Gly)
 dbSNP gnomAD v4
1g.68444601T>GCA340747824RPE65c.425A>C (p.Asp142Ala)
c.149A>C (p.Asp50Ala)
1g.68444601T=CA1173563406RPE65c.425A= (p.Asp142=)
c.149A= (p.Asp50=)
1g.68444602C>ACA340747830RPE65c.424G>T (p.Asp142Tyr)
c.148G>T (p.Asp50Tyr)
 COSMIC
1g.68444602C=CA1173563407RPE65c.424G= (p.Asp142=)
c.148G= (p.Asp50=)
1g.68444602C>GCA340747833RPE65c.424G>C (p.Asp142His)
c.148G>C (p.Asp50His)
1g.68444602C>TCA340747836RPE65c.424G>A (p.Asp142Asn)
c.148G>A (p.Asp50Asn)
 dbSNP gnomAD v3 gnomAD v4
1g.68444603T>ACA340747838RPE65c.423A>T (p.Glu141Asp)
c.147A>T (p.Glu49Asp)
1g.68444603T>CCA418282710RPE65c.423A>G (p.Glu141=)
c.147A>G (p.Glu49=)
1g.68444603T>GCA340747841RPE65c.423A>C (p.Glu141Asp)
c.147A>C (p.Glu49Asp)
1g.68444604T>ACA340747844RPE65c.422A>T (p.Glu141Val)
c.146A>T (p.Glu49Val)
1g.68444604T>CCA340747846RPE65c.422A>G (p.Glu141Gly)
c.146A>G (p.Glu49Gly)
 gnomAD v4
1g.68444604T>GCA340747848RPE65c.422A>C (p.Glu141Ala)
c.146A>C (p.Glu49Ala)
1g.68444605C>ACA340747854RPE65c.421G>T (p.Glu141Ter)
c.145G>T (p.Glu49Ter)
 ClinVar dbSNP gnomAD v4
1g.68444605C=CA1173563408RPE65c.421G= (p.Glu141=)
c.145G= (p.Glu49=)
1g.68444605C>GCA340747857RPE65c.421G>C (p.Glu141Gln)
c.145G>C (p.Glu49Gln)
1g.68444605C>TCA340747855RPE65c.421G>A (p.Glu141Lys)
c.145G>A (p.Glu49Lys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.68444606C>ACA418282711RPE65c.420G>T (p.Gly140=)
c.144G>T (p.Gly48=)
1g.68444606C=CA1173563409RPE65c.420G= (p.Gly140=)
c.144G= (p.Gly48=)
1g.68444606C>GCA418282712RPE65c.420G>C (p.Gly140=)
c.144G>C (p.Gly48=)
1g.68444606C>TCA418282713RPE65c.420G>A (p.Gly140=)
c.144G>A (p.Gly48=)
 ClinVar dbSNP
1g.68444607C>ACA340747860RPE65c.419G>T (p.Gly140Val)
c.143G>T (p.Gly48Val)
1g.68444607C=CA1173563410RPE65c.419G= (p.Gly140=)
c.143G= (p.Gly48=)
1g.68444607C>GCA340747861RPE65c.419G>C (p.Gly140Ala)
c.143G>C (p.Gly48Ala)
1g.68444607C>TCA340747862RPE65c.419G>A (p.Gly140Glu)
c.143G>A (p.Gly48Glu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.68444608C>ACA340747863RPE65c.418G>T (p.Gly140Trp)
c.142G>T (p.Gly48Trp)
 COSMIC
1g.68444608C>GCA340747864RPE65c.418G>C (p.Gly140Arg)
c.142G>C (p.Gly48Arg)
1g.68444608C>TCA340747865RPE65c.418G>A (p.Gly140Arg)
c.142G>A (p.Gly48Arg)
1g.68444609C>ACA418282716RPE65c.417G>T (p.Val139=)
c.141G>T (p.Val47=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.68444609C=CA1144906582RPE65c.417G= (p.Val139=)
c.141G= (p.Val47=)
1g.68444609C>GCA418282717RPE65c.417G>C (p.Val139=)
c.141G>C (p.Val47=)
1g.68444609C>TCA902509RPE65c.417G>A (p.Val139=)
c.141G>A (p.Val47=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.68444610A>CCA340747866RPE65c.416T>G (p.Val139Gly)
c.140T>G (p.Val47Gly)
 gnomAD v4
1g.68444610A>GCA340747867RPE65c.416T>C (p.Val139Ala)
c.140T>C (p.Val47Ala)
1g.68444610A>TCA340747868RPE65c.416T>A (p.Val139Glu)
c.140T>A (p.Val47Glu)
1g.68444611C>ACA340747871RPE65c.415G>T (p.Val139Leu)
c.139G>T (p.Val47Leu)
 dbSNP gnomAD v4
1g.68444611C=CA1173563411RPE65c.415G= (p.Val139=)
c.139G= (p.Val47=)
1g.68444611C>GCA340747870RPE65c.415G>C (p.Val139Leu)
c.139G>C (p.Val47Leu)
1g.68444611C>TCA340747869RPE65c.415G>A (p.Val139Met)
c.139G>A (p.Val47Met)
 ClinVar
1g.68444612delCA2586966744RPE65c.414del (p.Val139TrpfsTer?)
c.138del (p.Val47TrpfsTer?)
1g.68444612T>ACA902510RPE65c.414A>T (p.Pro138=)
c.138A>T (p.Pro46=)
 dbSNP ExAC gnomAD v2
1g.68444612T>CCA418282722RPE65c.414A>G (p.Pro138=)
c.138A>G (p.Pro46=)
1g.68444612T>GCA418282721RPE65c.414A>C (p.Pro138=)
c.138A>C (p.Pro46=)
 ClinVar dbSNP
1g.68444612T=CA1173563412RPE65c.414A= (p.Pro138=)
c.138A= (p.Pro46=)
1g.68444613G>ACA340747872RPE65c.413C>T (p.Pro138Leu)
c.137C>T (p.Pro46Leu)
1g.68444613G>CCA340747873RPE65c.413C>G (p.Pro138Arg)
c.137C>G (p.Pro46Arg)
1g.68444613G>TCA340747874RPE65c.413C>A (p.Pro138Gln)
c.137C>A (p.Pro46Gln)
 COSMIC
1g.68444614G>ACA340747875RPE65c.412C>T (p.Pro138Ser)
c.136C>T (p.Pro46Ser)
 gnomAD v4
1g.68444614G>CCA340747876RPE65c.412C>G (p.Pro138Ala)
c.136C>G (p.Pro46Ala)
1g.68444614G>TCA340747877RPE65c.412C>A (p.Pro138Thr)
c.136C>A (p.Pro46Thr)
1g.68444615G>ACA418282723RPE65c.411C>T (p.Tyr137=)
c.135C>T (p.Tyr45=)
 dbSNP gnomAD v3 gnomAD v4
1g.68444615G>CCA340747878RPE65c.411C>G (p.Tyr137Ter)
c.135C>G (p.Tyr45Ter)
 ClinVar
1g.68444615G=CA1173563413RPE65c.411C= (p.Tyr137=)
c.135C= (p.Tyr45=)
1g.68444615G>TCA340747879RPE65c.411C>A (p.Tyr137Ter)
c.135C>A (p.Tyr45Ter)
 ClinVar
1g.68444616T>ACA340747880RPE65c.410A>T (p.Tyr137Phe)
c.134A>T (p.Tyr45Phe)
1g.68444616T>CCA340747881RPE65c.410A>G (p.Tyr137Cys)
c.134A>G (p.Tyr45Cys)
1g.68444616T>GCA340747882RPE65c.410A>C (p.Tyr137Ser)
c.134A>C (p.Tyr45Ser)
1g.68444617A>CCA340747883RPE65c.409T>G (p.Tyr137Asp)
c.133T>G (p.Tyr45Asp)
1g.68444617A>GCA340747884RPE65c.409T>C (p.Tyr137His)
c.133T>C (p.Tyr45His)
 gnomAD v4
1g.68444617A>TCA340747885RPE65c.409T>A (p.Tyr137Asn)
c.133T>A (p.Tyr45Asn)
1g.68444618G>ACA902511RPE65c.408C>T (p.Val136=)
c.132C>T (p.Val44=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.68444618G>CCA418282725RPE65c.408C>G (p.Val136=)
c.132C>G (p.Val44=)
1g.68444618G=CA1143935221RPE65c.408C= (p.Val136=)
c.132C= (p.Val44=)
1g.68444618G>TCA418282724RPE65c.408C>A (p.Val136=)
c.132C>A (p.Val44=)
 COSMIC
1g.68444619A=CA1173563414RPE65c.407T= (p.Val136=)
c.131T= (p.Val44=)
1g.68444619A>CCA340747886RPE65c.407T>G (p.Val136Gly)
c.131T>G (p.Val44Gly)
 ClinVar dbSNP
1g.68444619A>GCA340747887RPE65c.407T>C (p.Val136Ala)
c.131T>C (p.Val44Ala)
1g.68444619A>TCA340747888RPE65c.407T>A (p.Val136Asp)
c.131T>A (p.Val44Asp)
1g.68444620C>ACA902512RPE65c.406G>T (p.Val136Phe)
c.130G>T (p.Val44Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.68444620C=CA1145569277RPE65c.406G= (p.Val136=)
c.130G= (p.Val44=)
1g.68444620C>GCA902513RPE65c.406G>C (p.Val136Leu)
c.130G>C (p.Val44Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.68444620C>TCA340747889RPE65c.406G>A (p.Val136Ile)
c.130G>A (p.Val44Ile)
 gnomAD v4
1g.68444621A=CA1173563415RPE65c.405T= (p.Asn135=)
c.129T= (p.Asn43=)
1g.68444621A>CCA340747890RPE65c.405T>G (p.Asn135Lys)
c.129T>G (p.Asn43Lys)
1g.68444621A>GCA418282726RPE65c.405T>C (p.Asn135=)
c.129T>C (p.Asn43=)
 dbSNP
1g.68444621A>TCA340747891RPE65c.405T>A (p.Asn135Lys)
c.129T>A (p.Asn43Lys)
 ClinVar dbSNP gnomAD v4
1g.68444622T>ACA340747892RPE65c.404A>T (p.Asn135Ile)
c.128A>T (p.Asn43Ile)
1g.68444622T>CCA340747893RPE65c.404A>G (p.Asn135Ser)
c.128A>G (p.Asn43Ser)
1g.68444622T>GCA340747894RPE65c.404A>C (p.Asn135Thr)
c.128A>C (p.Asn43Thr)
 gnomAD v4
1g.68444623T>ACA340747895RPE65c.403A>T (p.Asn135Tyr)
c.127A>T (p.Asn43Tyr)
1g.68444623T>CCA340747896RPE65c.403A>G (p.Asn135Asp)
c.127A>G (p.Asn43Asp)
1g.68444623T>GCA340747897RPE65c.403A>C (p.Asn135His)
c.127A>C (p.Asn43His)
1g.68444623_68444626delinsTAACCA1173563416RPE65c.400_403delinsGTTA (p.Val134=)
c.124_127delinsGTTA (p.Val42=)
1g.68444624A=CA1173563417RPE65c.402T= (p.Val134=)
c.126T= (p.Val42=)
1g.68444624A>CCA418282727RPE65c.402T>G (p.Val134=)
c.126T>G (p.Val42=)
1g.68444624A>GCA418282729RPE65c.402T>C (p.Val134=)
c.126T>C (p.Val42=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.68444624A>TCA418282728RPE65c.402T>A (p.Val134=)
c.126T>A (p.Val42=)
1g.68444626_68444628delCA738204684RPE65c.400_402del (p.Val134del)
c.124_126del (p.Val42del)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.68444625A>CCA340747899RPE65c.401T>G (p.Val134Gly)
c.125T>G (p.Val42Gly)
1g.68444625A>GCA340747900RPE65c.401T>C (p.Val134Ala)
c.125T>C (p.Val42Ala)
1g.68444625A>TCA340747898RPE65c.401T>A (p.Val134Asp)
c.125T>A (p.Val42Asp)
1g.68444626C>ACA340747901RPE65c.400G>T (p.Val134Phe)
c.124G>T (p.Val42Phe)
 gnomAD v4
1g.68444626C=CA1148259220RPE65c.400G= (p.Val134=)
c.124G= (p.Val42=)
1g.68444626C>GCA340747902RPE65c.400G>C (p.Val134Leu)
c.124G>C (p.Val42Leu)
1g.68444626C>TCA902514RPE65c.400G>A (p.Val134Ile)
c.124G>A (p.Val42Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.68444627A=CA1140685663RPE65c.399T= (p.Leu133=)
c.123T= (p.Leu41=)
1g.68444627A>CCA418282730RPE65c.399T>G (p.Leu133=)
c.123T>G (p.Leu41=)
1g.68444627A>GCA226548RPE65c.399T>C (p.Leu133=)
c.123T>C (p.Leu41=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.68444627A>TCA418282731RPE65c.399T>A (p.Leu133=)
c.123T>A (p.Leu41=)
1g.68444628A=CA1173563418RPE65c.398T= (p.Leu133=)
c.122T= (p.Leu41=)
1g.68444628A>CCA340747903RPE65c.398T>G (p.Leu133Arg)
c.122T>G (p.Leu41Arg)
1g.68444628A>GCA340747904RPE65c.398T>C (p.Leu133Pro)
c.122T>C (p.Leu41Pro)
 dbSNP gnomAD v2 gnomAD v4
1g.68444628A>TCA340747905RPE65c.398T>A (p.Leu133His)
c.122T>A (p.Leu41His)
1g.68444629G>ACA340747906RPE65c.397C>T (p.Leu133Phe)
c.121C>T (p.Leu41Phe)
1g.68444629G>CCA340747907RPE65c.397C>G (p.Leu133Val)
c.121C>G (p.Leu41Val)
1g.68444629G>TCA340747908RPE65c.397C>A (p.Leu133Ile)
c.121C>A (p.Leu41Ile)
1g.68444630G>ACA418282732RPE65c.396C>T (p.Ala132=)
c.120C>T (p.Ala40=)
1g.68444630G>CCA418282733RPE65c.396C>G (p.Ala132=)
c.120C>G (p.Ala40=)
 gnomAD v4
1g.68444630G>TCA418282734RPE65c.396C>A (p.Ala132=)
c.120C>A (p.Ala40=)
1g.68444631G>ACA340747909RPE65c.395C>T (p.Ala132Val)
c.119C>T (p.Ala40Val)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.68444631G>CCA340747910RPE65c.395C>G (p.Ala132Gly)
c.119C>G (p.Ala40Gly)
1g.68444631G=CA1173563419RPE65c.395C= (p.Ala132=)
c.119C= (p.Ala40=)
1g.68444631G>TCA340747911RPE65c.395C>A (p.Ala132Asp)
c.119C>A (p.Ala40Asp)
1g.68444632C>ACA340747913RPE65c.394G>T (p.Ala132Ser)
c.118G>T (p.Ala40Ser)
1g.68444632C=CA1140725791RPE65c.394G= (p.Ala132=)
c.118G= (p.Ala40=)
1g.68444632C>GCA340747912RPE65c.394G>C (p.Ala132Pro)
c.118G>C (p.Ala40Pro)
1g.68444632C>TCA226547RPE65c.394G>A (p.Ala132Thr)
c.118G>A (p.Ala40Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.68444633A>CCA340747914RPE65c.393T>G (p.Asn131Lys)
c.117T>G (p.Asn39Lys)
1g.68444633A>GCA418282735RPE65c.393T>C (p.Asn131=)
c.117T>C (p.Asn39=)
1g.68444633A>TCA340747915RPE65c.393T>A (p.Asn131Lys)
c.117T>A (p.Asn39Lys)
1g.68444634T>ACA340747916RPE65c.392A>T (p.Asn131Ile)
c.116A>T (p.Asn39Ile)
1g.68444634T>CCA340747917RPE65c.392A>G (p.Asn131Ser)
c.116A>G (p.Asn39Ser)
1g.68444634T>GCA340747918RPE65c.392A>C (p.Asn131Thr)
c.116A>C (p.Asn39Thr)
1g.68444635T>ACA340747919RPE65c.391A>T (p.Asn131Tyr)
c.115A>T (p.Asn39Tyr)
1g.68444635T>CCA902515RPE65c.391A>G (p.Asn131Asp)
c.115A>G (p.Asn39Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.68444635T>GCA340747920RPE65c.391A>C (p.Asn131His)
c.115A>C (p.Asn39His)
1g.68444635T=CA1149053732RPE65c.391A= (p.Asn131=)
c.115A= (p.Asn39=)
1g.68444636G>ACA418282736RPE65c.390C>T (p.Asp130=)
c.114C>T (p.Asp38=)
 ClinVar dbSNP
1g.68444636G>CCA340747921RPE65c.390C>G (p.Asp130Glu)
c.114C>G (p.Asp38Glu)
1g.68444636G>TCA340747922RPE65c.390C>A (p.Asp130Glu)
c.114C>A (p.Asp38Glu)
1g.68444637T>ACA340747923RPE65c.389A>T (p.Asp130Val)
c.113A>T (p.Asp38Val)
1g.68444637T>CCA340747924RPE65c.389A>G (p.Asp130Gly)
c.113A>G (p.Asp38Gly)
 COSMIC
1g.68444637T>GCA340747925RPE65c.389A>C (p.Asp130Ala)
c.113A>C (p.Asp38Ala)
1g.68444638C>ACA340747927RPE65c.388G>T (p.Asp130Tyr)
c.112G>T (p.Asp38Tyr)
 gnomAD v4
1g.68444638C>GCA340747928RPE65c.388G>C (p.Asp130His)
c.112G>C (p.Asp38His)
1g.68444638C>TCA340747926RPE65c.388G>A (p.Asp130Asn)
c.112G>A (p.Asp38Asn)
1g.68444639A=CA1173563420RPE65c.387T= (p.Thr129=)
c.111T= (p.Thr37=)
1g.68444639A>CCA418282738RPE65c.387T>G (p.Thr129=)
c.111T>G (p.Thr37=)
1g.68444639A>GCA418282739RPE65c.387T>C (p.Thr129=)
c.111T>C (p.Thr37=)
 dbSNP gnomAD v2 gnomAD v4
1g.68444639A>TCA418282740RPE65c.387T>A (p.Thr129=)
c.111T>A (p.Thr37=)
1g.68444640G>ACA902516RPE65c.386C>T (p.Thr129Ile)
c.110C>T (p.Thr37Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.68444640G>CCA340747929RPE65c.386C>G (p.Thr129Ser)
c.110C>G (p.Thr37Ser)
1g.68444640G=CA1173563421RPE65c.386C= (p.Thr129=)
c.110C= (p.Thr37=)
1g.68444640G>TCA340747930RPE65c.386C>A (p.Thr129Asn)
c.110C>A (p.Thr37Asn)
1g.68444641T>ACA340747931RPE65c.385A>T (p.Thr129Ser)
c.109A>T (p.Thr37Ser)
1g.68444641T>CCA340747932RPE65c.385A>G (p.Thr129Ala)
c.109A>G (p.Thr37Ala)
 gnomAD v4
1g.68444641T>GCA340747933RPE65c.385A>C (p.Thr129Pro)
c.109A>C (p.Thr37Pro)
1g.68444642A>CCA418282741RPE65c.384T>G (p.Val128=)
c.108T>G (p.Val36=)
1g.68444642A>GCA418282742RPE65c.384T>C (p.Val128=)
c.108T>C (p.Val36=)
1g.68444642A>TCA418282743RPE65c.384T>A (p.Val128=)
c.108T>A (p.Val36=)
1g.68444643A>CCA340747934RPE65c.383T>G (p.Val128Gly)
c.107T>G (p.Val36Gly)
1g.68444643A>GCA340747935RPE65c.383T>C (p.Val128Ala)
c.107T>C (p.Val36Ala)
 gnomAD v4
1g.68444643A>TCA340747936RPE65c.383T>A (p.Val128Asp)
c.107T>A (p.Val36Asp)
1g.68444644C>ACA902517RPE65c.382G>T (p.Val128Phe)
c.106G>T (p.Val36Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.68444644C=CA1144071542RPE65c.382G= (p.Val128=)
c.106G= (p.Val36=)
1g.68444644C>GCA340747937RPE65c.382G>C (p.Val128Leu)
c.106G>C (p.Val36Leu)
 gnomAD v4
1g.68444644C>TCA340747938RPE65c.382G>A (p.Val128Ile)
c.106G>A (p.Val36Ile)
 ClinVar
1g.68444645C>ACA340747940RPE65c.381G>T (p.Glu127Asp)
c.105G>T (p.Glu35Asp)
1g.68444645C>GCA340747939RPE65c.381G>C (p.Glu127Asp)
c.105G>C (p.Glu35Asp)
1g.68444645C>TCA418282744RPE65c.381G>A (p.Glu127=)
c.105G>A (p.Glu35=)
 gnomAD v4
1g.68444646T>ACA340747941RPE65c.380A>T (p.Glu127Val)
c.104A>T (p.Glu35Val)
1g.68444646T>CCA340747942RPE65c.380A>G (p.Glu127Gly)
c.104A>G (p.Glu35Gly)
1g.68444646T>GCA340747943RPE65c.380A>C (p.Glu127Ala)
c.104A>C (p.Glu35Ala)
1g.68444647C>ACA340747944RPE65c.379G>T (p.Glu127Ter)
c.103G>T (p.Glu35Ter)
1g.68444647C>GCA340747945RPE65c.379G>C (p.Glu127Gln)
c.103G>C (p.Glu35Gln)
1g.68444647C>TCA340747946RPE65c.379G>A (p.Glu127Lys)
c.103G>A (p.Glu35Lys)
 gnomAD v4 COSMIC
1g.68444648T>ACA418282745RPE65c.378A>T (p.Val126=)
c.102A>T (p.Val34=)
1g.68444648T>CCA418282746RPE65c.378A>G (p.Val126=)
c.102A>G (p.Val34=)
 gnomAD v4
1g.68444648T>GCA418282747RPE65c.378A>C (p.Val126=)
c.102A>C (p.Val34=)
1g.68444649A=CA1173563422RPE65c.377T= (p.Val126=)
c.101T= (p.Val34=)
1g.68444649A>CCA340747947RPE65c.377T>G (p.Val126Gly)
c.101T>G (p.Val34Gly)
1g.68444649A>GCA340747948RPE65c.377T>C (p.Val126Ala)
c.101T>C (p.Val34Ala)
 ClinVar dbSNP gnomAD v4
1g.68444649A>TCA340747949RPE65c.377T>A (p.Val126Glu)
c.101T>A (p.Val34Glu)
1g.68444650delCA2586966745RPE65c.376del (p.Val126Ter)
c.100del (p.Val34Ter)
1g.68444650C>ACA340747950RPE65c.376G>T (p.Val126Leu)
c.100G>T (p.Val34Leu)
1g.68444650C=CA1173563423RPE65c.376G= (p.Val126=)
c.100G= (p.Val34=)
1g.68444650C>GCA340747951RPE65c.376G>C (p.Val126Leu)
c.100G>C (p.Val34Leu)
1g.68444650C>TCA340747952RPE65c.376G>A (p.Val126Ile)
c.100G>A (p.Val34Ile)
 dbSNP gnomAD v2 gnomAD v4
1g.68444651T>ACA418282748RPE65c.375A>T (p.Gly125=)
c.99A>T (p.Gly33=)
1g.68444651T>CCA902518RPE65c.375A>G (p.Gly125=)
c.99A>G (p.Gly33=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.68444651T>GCA418282749RPE65c.375A>C (p.Gly125=)
c.99A>C (p.Gly33=)
1g.68444651T=CA1173563425RPE65c.375A= (p.Gly125=)
c.99A= (p.Gly33=)
1g.68444651_68444652delinsTCCA1173563424RPE65c.374_375delinsGA (p.Gly125=)
c.98_99delinsGA (p.Gly33=)
1g.68444651_68444656delCA2744001084RPE65c.370_375del (p.Arg124_Gly125del)
c.94_99del (p.Arg32_Gly33del)
1g.68444652C>ACA340747955RPE65c.374G>T (p.Gly125Val)
c.98G>T (p.Gly33Val)
1g.68444652C>GCA340747954RPE65c.374G>C (p.Gly125Ala)
c.98G>C (p.Gly33Ala)
1g.68444652C>TCA340747953RPE65c.374G>A (p.Gly125Glu)
c.98G>A (p.Gly33Glu)
1g.68444653delCA902519RPE65c.374del (p.Gly125GlufsTer2)
c.98del (p.Gly33GlufsTer2)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.68444653C>ACA340747957RPE65c.373G>T (p.Gly125Ter)
c.97G>T (p.Gly33Ter)
1g.68444653C>GCA340747956RPE65c.373G>C (p.Gly125Arg)
c.97G>C (p.Gly33Arg)
1g.68444653C>TCA340747958RPE65c.373G>A (p.Gly125Arg)
c.97G>A (p.Gly33Arg)
 gnomAD v4 COSMIC
1g.68444654T>ACA418282750RPE65c.372A>T (p.Arg124=)
c.96A>T (p.Arg32=)
1g.68444654T>CCA418282751RPE65c.372A>G (p.Arg124=)
c.96A>G (p.Arg32=)
1g.68444654T>GCA418282752RPE65c.372A>C (p.Arg124=)
c.96A>C (p.Arg32=)
 ClinVar dbSNP
1g.68444655C>ACA340747959RPE65c.371G>T (p.Arg124Leu)
c.95G>T (p.Arg32Leu)
 COSMIC
1g.68444655C=CA1148891647RPE65c.371G= (p.Arg124=)
c.95G= (p.Arg32=)
1g.68444655C>GCA340747960RPE65c.371G>C (p.Arg124Pro)
c.95G>C (p.Arg32Pro)
 dbSNP
1g.68444655C>TCA902520RPE65c.371G>A (p.Arg124Gln)
c.95G>A (p.Arg32Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.68444656G>ACA226545RPE65c.370C>T (p.Arg124Ter)
c.94C>T (p.Arg32Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.68444656G>CCA340747961RPE65c.370C>G (p.Arg124Gly)
c.94C>G (p.Arg32Gly)
1g.68444656G=CA1140725792RPE65c.370C= (p.Arg124=)
c.94C= (p.Arg32=)
1g.68444656G>TCA902521RPE65c.370C>A (p.Arg124=)
c.94C>A (p.Arg32=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.68444656_68444658delCA2744001085RPE65c.368_370del (p.Phe123Ter)
c.92_94del (p.Phe31Ter)
1g.68444657A>CCA340747962RPE65c.369T>G (p.Phe123Leu)
c.93T>G (p.Phe31Leu)
1g.68444657A>GCA418282753RPE65c.369T>C (p.Phe123=)
c.93T>C (p.Phe31=)
1g.68444657A>TCA340747963RPE65c.369T>A (p.Phe123Leu)
c.93T>A (p.Phe31Leu)
1g.68444658A>CCA340747964RPE65c.368T>G (p.Phe123Cys)
c.92T>G (p.Phe31Cys)
1g.68444658A>GCA340747966RPE65c.368T>C (p.Phe123Ser)
c.92T>C (p.Phe31Ser)
1g.68444658A>TCA340747968RPE65c.368T>A (p.Phe123Tyr)
c.92T>A (p.Phe31Tyr)
1g.68444659A=CA1173563426RPE65c.367T= (p.Phe123=)
c.91T= (p.Phe31=)
1g.68444659A>CCA340747970RPE65c.367T>G (p.Phe123Val)
c.91T>G (p.Phe31Val)
1g.68444659A>GCA902522RPE65c.367T>C (p.Phe123Leu)
c.91T>C (p.Phe31Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.68444659A>TCA340747972RPE65c.367T>A (p.Phe123Ile)
c.91T>A (p.Phe31Ile)
1g.68444660G>ACA418282754RPE65c.366C>T (p.Tyr122=)
c.90C>T (p.Tyr30=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.68444660G>CCA340747975RPE65c.366C>G (p.Tyr122Ter)
c.90C>G (p.Tyr30Ter)
1g.68444660G=CA1173563427RPE65c.366C= (p.Tyr122=)
c.90C= (p.Tyr30=)
1g.68444660G>TCA340747977RPE65c.366C>A (p.Tyr122Ter)
c.90C>A (p.Tyr30Ter)
 ClinVar
1g.68444661T>ACA340747983RPE65c.365A>T (p.Tyr122Phe)
c.89A>T (p.Tyr30Phe)
1g.68444661T>CCA340747981RPE65c.365A>G (p.Tyr122Cys)
c.89A>G (p.Tyr30Cys)
 gnomAD v4
1g.68444661T>GCA340747980RPE65c.365A>C (p.Tyr122Ser)
c.89A>C (p.Tyr30Ser)
1g.68444662A>CCA340747985RPE65c.364T>G (p.Tyr122Asp)
c.88T>G (p.Tyr30Asp)
1g.68444662A>GCA340747987RPE65c.364T>C (p.Tyr122His)
c.88T>C (p.Tyr30His)
1g.68444662A>TCA340747989RPE65c.364T>A (p.Tyr122Asn)
c.88T>A (p.Tyr30Asn)
1g.68444663A>CCA418282755RPE65c.363T>G (p.Ser121=)
c.87T>G (p.Ser29=)
1g.68444663A>GCA418282756RPE65c.363T>C (p.Ser121=)
c.87T>C (p.Ser29=)
1g.68444663A>TCA418282757RPE65c.363T>A (p.Ser121=)
c.87T>A (p.Ser29=)
1g.68444664G>ACA340747991RPE65c.362C>T (p.Ser121Phe)
c.86C>T (p.Ser29Phe)
1g.68444664G>CCA340747992RPE65c.362C>G (p.Ser121Cys)
c.86C>G (p.Ser29Cys)
1g.68444664G>TCA340747994RPE65c.362C>A (p.Ser121Tyr)
c.86C>A (p.Ser29Tyr)
 gnomAD v4
1g.68444664_68444665delinsGACA1173563428RPE65c.361_362delinsTC (p.Ser121=)
c.85_86delinsTC (p.Ser29=)
1g.68444665A>CCA340747996RPE65c.361T>G (p.Ser121Ala)
c.85T>G (p.Ser29Ala)
1g.68444665A>GCA340747998RPE65c.361T>C (p.Ser121Pro)
c.85T>C (p.Ser29Pro)
1g.68444665A>TCA340748000RPE65c.361T>A (p.Ser121Thr)
c.85T>A (p.Ser29Thr)
1g.68444665_68444671delinsAAAAAAACA1141580845RPE65c.355_361delinsTTTTTTT (p.Phe119=)
c.79_85delinsTTTTTTT (p.Phe27=)
1g.68444671dupCA23575009RPE65c.361dup (p.Ser121PhefsTer10)
c.85dup (p.Ser29PhefsTer10)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.68444671delCA523301836RPE65c.361del (p.Ser121LeufsTer6)
c.85del (p.Ser29LeufsTer6)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.68444666A=CA1173563429RPE65c.360T= (p.Phe120=)
c.84T= (p.Phe28=)
1g.68444666A>CCA340748002RPE65c.360T>G (p.Phe120Leu)
c.84T>G (p.Phe28Leu)
1g.68444666A>GCA902523RPE65c.360T>C (p.Phe120=)
c.84T>C (p.Phe28=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.68444666A>TCA340748005RPE65c.360T>A (p.Phe120Leu)
c.84T>A (p.Phe28Leu)
1g.68444667A=CA1173563430RPE65c.359T= (p.Phe120=)
c.83T= (p.Phe28=)
1g.68444667A>CCA340748009RPE65c.359T>G (p.Phe120Cys)
c.83T>G (p.Phe28Cys)
1g.68444667A>GCA340748011RPE65c.359T>C (p.Phe120Ser)
c.83T>C (p.Phe28Ser)
 dbSNP
1g.68444667A>TCA340748007RPE65c.359T>A (p.Phe120Tyr)
c.83T>A (p.Phe28Tyr)
1g.68444668A=CA1173563431RPE65c.358T= (p.Phe120=)
c.82T= (p.Phe28=)
1g.68444668A>CCA340748013RPE65c.358T>G (p.Phe120Val)
c.82T>G (p.Phe28Val)
 dbSNP gnomAD v2 gnomAD v4
1g.68444668A>GCA340748015RPE65c.358T>C (p.Phe120Leu)
c.82T>C (p.Phe28Leu)
1g.68444668A>TCA340748016RPE65c.358T>A (p.Phe120Ile)
c.82T>A (p.Phe28Ile)
1g.68444669A>CCA340748019RPE65c.357T>G (p.Phe119Leu)
c.81T>G (p.Phe27Leu)
 gnomAD v4
1g.68444669A>GCA418282758RPE65c.357T>C (p.Phe119=)
c.81T>C (p.Phe27=)
1g.68444669A>TCA340748020RPE65c.357T>A (p.Phe119Leu)
c.81T>A (p.Phe27Leu)
1g.68444670A>CCA340748022RPE65c.356T>G (p.Phe119Cys)
c.80T>G (p.Phe27Cys)
1g.68444670A>GCA340748023RPE65c.356T>C (p.Phe119Ser)
c.80T>C (p.Phe27Ser)
1g.68444670A>TCA340748025RPE65c.356T>A (p.Phe119Tyr)
c.80T>A (p.Phe27Tyr)
1g.68444671A=CA1173563432RPE65c.355T= (p.Phe119=)
c.79T= (p.Phe27=)
1g.68444671A>CCA340748027RPE65c.355T>G (p.Phe119Val)
c.79T>G (p.Phe27Val)
 dbSNP
1g.68444671A>GCA340748029RPE65c.355T>C (p.Phe119Leu)
c.79T>C (p.Phe27Leu)
1g.68444671A>TCA340748030RPE65c.355T>A (p.Phe119Ile)
c.79T>A (p.Phe27Ile)
1g.68444672C>ACA340748033RPE65c.354G>T (p.Arg118Ser)
c.78G>T (p.Arg26Ser)
 ClinVar dbSNP
1g.68444672C=CA1173563433RPE65c.354G= (p.Arg118=)
c.78G= (p.Arg26=)
1g.68444672C>GCA340748034RPE65c.354G>C (p.Arg118Ser)
c.78G>C (p.Arg26Ser)
 gnomAD v4
1g.68444672C>TCA23575050RPE65c.354G>A (p.Arg118=)
c.78G>A (p.Arg26=)
 dbSNP gnomAD v4
1g.68444672_68444673insTGTTTGTAATGAATATCCAGGAGTCCATACA1173563434RPE65c.354-1_354insTATGGACTCCTGGATATTCATTACAAACA (n.354-1_354insTATGGACTCCTGGATATTCATTACAAACA)
c.78-1_78insTATGGACTCCTGGATATTCATTACAAACA (n.78-1_78insTATGGACTCCTGGATATTCATTACAAACA)
 dbSNP
1g.68444673C>ACA340748036RPE65c.354-1G>T (n.354-1G>T)
c.78-1G>T (n.78-1G>T)
 ClinVar dbSNP
1g.68444673C>GCA340748040RPE65c.354-1G>C (n.354-1G>C)
c.78-1G>C (n.78-1G>C)
1g.68444673C>TCA340748038RPE65c.354-1G>A (n.354-1G>A)
c.78-1G>A (n.78-1G>A)
 ClinVar dbSNP

Number of alleles fetched