Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.68444584_68444585del | CA1173563400 | RPE65 | c.444_445del (p.Glu148AspfsTer8) c.168_169del (p.Glu56AspfsTer8) | ClinVar dbSNP |
1 | g.68444584C>A | CA340747693 | RPE65 | c.442G>T (p.Glu148Ter) c.166G>T (p.Glu56Ter) | |
1 | g.68444584C>G | CA340747695 | RPE65 | c.442G>C (p.Glu148Gln) c.166G>C (p.Glu56Gln) | gnomAD v4 |
1 | g.68444584C>T | CA340747698 | RPE65 | c.442G>A (p.Glu148Lys) c.166G>A (p.Glu56Lys) | |
1 | g.68444584_68444586delinsCTG | CA1173563402 | RPE65 | c.440_442delinsCAG (p.Thr147=) c.164_166delinsCAG (p.Thr55=) | |
1 | g.68444585T>A | CA418282701 | RPE65 | c.441A>T (p.Thr147=) c.165A>T (p.Thr55=) | |
1 | g.68444585T>C | CA902507 | RPE65 | c.441A>G (p.Thr147=) c.165A>G (p.Thr55=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.68444585T>G | CA418282700 | RPE65 | c.441A>C (p.Thr147=) c.165A>C (p.Thr55=) | |
1 | g.68444585T= | CA1142744570 | RPE65 | c.441A= (p.Thr147=) c.165A= (p.Thr55=) | |
1 | g.68444587_68444588del | CA523301794 | RPE65 | c.440_441del (p.Thr147ArgfsTer9) c.164_165del (p.Thr55ArgfsTer9) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.68444586G>A | CA340747704 | RPE65 | c.440C>T (p.Thr147Ile) c.164C>T (p.Thr55Ile) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.68444586G>C | CA340747710 | RPE65 | c.440C>G (p.Thr147Arg) c.164C>G (p.Thr55Arg) | |
1 | g.68444586G= | CA1173563403 | RPE65 | c.440C= (p.Thr147=) c.164C= (p.Thr55=) | |
1 | g.68444586G>T | CA340747706 | RPE65 | c.440C>A (p.Thr147Lys) c.164C>A (p.Thr55Lys) | gnomAD v4 |
1 | g.68444587T>A | CA340747713 | RPE65 | c.439A>T (p.Thr147Ser) c.163A>T (p.Thr55Ser) | gnomAD v4 |
1 | g.68444587T>C | CA340747715 | RPE65 | c.439A>G (p.Thr147Ala) c.163A>G (p.Thr55Ala) | gnomAD v4 |
1 | g.68444587T>G | CA340747719 | RPE65 | c.439A>C (p.Thr147Pro) c.163A>C (p.Thr55Pro) | |
1 | g.68444588G>A | CA418282702 | RPE65 | c.438C>T (p.Cys146=) c.162C>T (p.Cys54=) | |
1 | g.68444588G>C | CA340747722 | RPE65 | c.438C>G (p.Cys146Trp) c.162C>G (p.Cys54Trp) | |
1 | g.68444588G>T | CA340747726 | RPE65 | c.438C>A (p.Cys146Ter) c.162C>A (p.Cys54Ter) | COSMIC |
1 | g.68444589C>A | CA340747741 | RPE65 | c.437G>T (p.Cys146Phe) c.161G>T (p.Cys54Phe) | |
1 | g.68444589C= | CA1173563404 | RPE65 | c.437G= (p.Cys146=) c.161G= (p.Cys54=) | |
1 | g.68444589C>G | CA340747738 | RPE65 | c.437G>C (p.Cys146Ser) c.161G>C (p.Cys54Ser) | |
1 | g.68444589C>T | CA340747730 | RPE65 | c.437G>A (p.Cys146Tyr) c.161G>A (p.Cys54Tyr) | dbSNP gnomAD v4 |
1 | g.68444590A>C | CA340747743 | RPE65 | c.436T>G (p.Cys146Gly) c.160T>G (p.Cys54Gly) | |
1 | g.68444590A>G | CA340747745 | RPE65 | c.436T>C (p.Cys146Arg) c.160T>C (p.Cys54Arg) | |
1 | g.68444590A>T | CA340747748 | RPE65 | c.436T>A (p.Cys146Ser) c.160T>A (p.Cys54Ser) | gnomAD v4 |
1 | g.68444591A>C | CA418282703 | RPE65 | c.435T>G (p.Ala145=) c.159T>G (p.Ala53=) | |
1 | g.68444591A>G | CA418282706 | RPE65 | c.435T>C (p.Ala145=) c.159T>C (p.Ala53=) | ClinVar dbSNP |
1 | g.68444591A>T | CA418282705 | RPE65 | c.435T>A (p.Ala145=) c.159T>A (p.Ala53=) | |
1 | g.68444592G>A | CA340747751 | RPE65 | c.434C>T (p.Ala145Val) c.158C>T (p.Ala53Val) | ClinVar |
1 | g.68444592G>C | CA340747752 | RPE65 | c.434C>G (p.Ala145Gly) c.158C>G (p.Ala53Gly) | |
1 | g.68444592G>T | CA340747756 | RPE65 | c.434C>A (p.Ala145Asp) c.158C>A (p.Ala53Asp) | ClinVar |
1 | g.68444593C>A | CA340747759 | RPE65 | c.433G>T (p.Ala145Ser) c.157G>T (p.Ala53Ser) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.68444593C= | CA1173563405 | RPE65 | c.433G= (p.Ala145=) c.157G= (p.Ala53=) | |
1 | g.68444593C>G | CA340747763 | RPE65 | c.433G>C (p.Ala145Pro) c.157G>C (p.Ala53Pro) | ClinVar dbSNP |
1 | g.68444593C>T | CA902508 | RPE65 | c.433G>A (p.Ala145Thr) c.157G>A (p.Ala53Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.68444594G>A | CA226551 | RPE65 | c.432C>T (p.Tyr144=) c.156C>T (p.Tyr52=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.68444594G>C | CA340747768 | RPE65 | c.432C>G (p.Tyr144Ter) c.156C>G (p.Tyr52Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.68444594G= | CA1140630040 | RPE65 | c.432C= (p.Tyr144=) c.156C= (p.Tyr52=) | |
1 | g.68444594G>T | CA340747770 | RPE65 | c.432C>A (p.Tyr144Ter) c.156C>A (p.Tyr52Ter) | |
1 | g.68444595T>A | CA340747773 | RPE65 | c.431A>T (p.Tyr144Phe) c.155A>T (p.Tyr52Phe) | |
1 | g.68444595T>C | CA340747776 | RPE65 | c.431A>G (p.Tyr144Cys) c.155A>G (p.Tyr52Cys) | |
1 | g.68444595T>G | CA340747779 | RPE65 | c.431A>C (p.Tyr144Ser) c.155A>C (p.Tyr52Ser) | |
1 | g.68444596A= | CA1140725790 | RPE65 | c.430T= (p.Tyr144=) c.154T= (p.Tyr52=) | |
1 | g.68444596A>C | CA226550 | RPE65 | c.430T>G (p.Tyr144Asp) c.154T>G (p.Tyr52Asp) | ClinVar dbSNP gnomAD v4 |
1 | g.68444596A>G | CA340747783 | RPE65 | c.430T>C (p.Tyr144His) c.154T>C (p.Tyr52His) | |
1 | g.68444596A>T | CA340747786 | RPE65 | c.430T>A (p.Tyr144Asn) c.154T>A (p.Tyr52Asn) | |
1 | g.68444597G>A | CA418282707 | RPE65 | c.429C>T (p.Tyr143=) c.153C>T (p.Tyr51=) | gnomAD v4 |
1 | g.68444597G>C | CA340747789 | RPE65 | c.429C>G (p.Tyr143Ter) c.153C>G (p.Tyr51Ter) | |
1 | g.68444597G>T | CA340747790 | RPE65 | c.429C>A (p.Tyr143Ter) c.153C>A (p.Tyr51Ter) | |
1 | g.68444598T>A | CA340747793 | RPE65 | c.428A>T (p.Tyr143Phe) c.152A>T (p.Tyr51Phe) | |
1 | g.68444598T>C | CA340747798 | RPE65 | c.428A>G (p.Tyr143Cys) c.152A>G (p.Tyr51Cys) | |
1 | g.68444598T>G | CA340747795 | RPE65 | c.428A>C (p.Tyr143Ser) c.152A>C (p.Tyr51Ser) | |
1 | g.68444599A>C | CA340747802 | RPE65 | c.427T>G (p.Tyr143Asp) c.151T>G (p.Tyr51Asp) | |
1 | g.68444599A>G | CA340747808 | RPE65 | c.427T>C (p.Tyr143His) c.151T>C (p.Tyr51His) | |
1 | g.68444599A>T | CA340747805 | RPE65 | c.427T>A (p.Tyr143Asn) c.151T>A (p.Tyr51Asn) | gnomAD v4 |
1 | g.68444600A>C | CA340747812 | RPE65 | c.426T>G (p.Asp142Glu) c.150T>G (p.Asp50Glu) | |
1 | g.68444600A>G | CA418282709 | RPE65 | c.426T>C (p.Asp142=) c.150T>C (p.Asp50=) | |
1 | g.68444600A>T | CA340747815 | RPE65 | c.426T>A (p.Asp142Glu) c.150T>A (p.Asp50Glu) | |
1 | g.68444601T>A | CA340747820 | RPE65 | c.425A>T (p.Asp142Val) c.149A>T (p.Asp50Val) | ClinVar dbSNP gnomAD v4 |
1 | g.68444601T>C | CA340747822 | RPE65 | c.425A>G (p.Asp142Gly) c.149A>G (p.Asp50Gly) | dbSNP gnomAD v4 |
1 | g.68444601T>G | CA340747824 | RPE65 | c.425A>C (p.Asp142Ala) c.149A>C (p.Asp50Ala) | |
1 | g.68444601T= | CA1173563406 | RPE65 | c.425A= (p.Asp142=) c.149A= (p.Asp50=) | |
1 | g.68444602C>A | CA340747830 | RPE65 | c.424G>T (p.Asp142Tyr) c.148G>T (p.Asp50Tyr) | COSMIC |
1 | g.68444602C= | CA1173563407 | RPE65 | c.424G= (p.Asp142=) c.148G= (p.Asp50=) | |
1 | g.68444602C>G | CA340747833 | RPE65 | c.424G>C (p.Asp142His) c.148G>C (p.Asp50His) | |
1 | g.68444602C>T | CA340747836 | RPE65 | c.424G>A (p.Asp142Asn) c.148G>A (p.Asp50Asn) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.68444603T>A | CA340747838 | RPE65 | c.423A>T (p.Glu141Asp) c.147A>T (p.Glu49Asp) | |
1 | g.68444603T>C | CA418282710 | RPE65 | c.423A>G (p.Glu141=) c.147A>G (p.Glu49=) | |
1 | g.68444603T>G | CA340747841 | RPE65 | c.423A>C (p.Glu141Asp) c.147A>C (p.Glu49Asp) | |
1 | g.68444604T>A | CA340747844 | RPE65 | c.422A>T (p.Glu141Val) c.146A>T (p.Glu49Val) | |
1 | g.68444604T>C | CA340747846 | RPE65 | c.422A>G (p.Glu141Gly) c.146A>G (p.Glu49Gly) | gnomAD v4 |
1 | g.68444604T>G | CA340747848 | RPE65 | c.422A>C (p.Glu141Ala) c.146A>C (p.Glu49Ala) | |
1 | g.68444605C>A | CA340747854 | RPE65 | c.421G>T (p.Glu141Ter) c.145G>T (p.Glu49Ter) | ClinVar dbSNP gnomAD v4 |
1 | g.68444605C= | CA1173563408 | RPE65 | c.421G= (p.Glu141=) c.145G= (p.Glu49=) | |
1 | g.68444605C>G | CA340747857 | RPE65 | c.421G>C (p.Glu141Gln) c.145G>C (p.Glu49Gln) | |
1 | g.68444605C>T | CA340747855 | RPE65 | c.421G>A (p.Glu141Lys) c.145G>A (p.Glu49Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.68444606C>A | CA418282711 | RPE65 | c.420G>T (p.Gly140=) c.144G>T (p.Gly48=) | |
1 | g.68444606C= | CA1173563409 | RPE65 | c.420G= (p.Gly140=) c.144G= (p.Gly48=) | |
1 | g.68444606C>G | CA418282712 | RPE65 | c.420G>C (p.Gly140=) c.144G>C (p.Gly48=) | |
1 | g.68444606C>T | CA418282713 | RPE65 | c.420G>A (p.Gly140=) c.144G>A (p.Gly48=) | ClinVar dbSNP |
1 | g.68444607C>A | CA340747860 | RPE65 | c.419G>T (p.Gly140Val) c.143G>T (p.Gly48Val) | |
1 | g.68444607C= | CA1173563410 | RPE65 | c.419G= (p.Gly140=) c.143G= (p.Gly48=) | |
1 | g.68444607C>G | CA340747861 | RPE65 | c.419G>C (p.Gly140Ala) c.143G>C (p.Gly48Ala) | |
1 | g.68444607C>T | CA340747862 | RPE65 | c.419G>A (p.Gly140Glu) c.143G>A (p.Gly48Glu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.68444608C>A | CA340747863 | RPE65 | c.418G>T (p.Gly140Trp) c.142G>T (p.Gly48Trp) | COSMIC |
1 | g.68444608C>G | CA340747864 | RPE65 | c.418G>C (p.Gly140Arg) c.142G>C (p.Gly48Arg) | |
1 | g.68444608C>T | CA340747865 | RPE65 | c.418G>A (p.Gly140Arg) c.142G>A (p.Gly48Arg) | |
1 | g.68444609C>A | CA418282716 | RPE65 | c.417G>T (p.Val139=) c.141G>T (p.Val47=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.68444609C= | CA1144906582 | RPE65 | c.417G= (p.Val139=) c.141G= (p.Val47=) | |
1 | g.68444609C>G | CA418282717 | RPE65 | c.417G>C (p.Val139=) c.141G>C (p.Val47=) | |
1 | g.68444609C>T | CA902509 | RPE65 | c.417G>A (p.Val139=) c.141G>A (p.Val47=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.68444610A>C | CA340747866 | RPE65 | c.416T>G (p.Val139Gly) c.140T>G (p.Val47Gly) | gnomAD v4 |
1 | g.68444610A>G | CA340747867 | RPE65 | c.416T>C (p.Val139Ala) c.140T>C (p.Val47Ala) | |
1 | g.68444610A>T | CA340747868 | RPE65 | c.416T>A (p.Val139Glu) c.140T>A (p.Val47Glu) | |
1 | g.68444611C>A | CA340747871 | RPE65 | c.415G>T (p.Val139Leu) c.139G>T (p.Val47Leu) | dbSNP gnomAD v4 |
1 | g.68444611C= | CA1173563411 | RPE65 | c.415G= (p.Val139=) c.139G= (p.Val47=) | |
1 | g.68444611C>G | CA340747870 | RPE65 | c.415G>C (p.Val139Leu) c.139G>C (p.Val47Leu) | |
1 | g.68444611C>T | CA340747869 | RPE65 | c.415G>A (p.Val139Met) c.139G>A (p.Val47Met) | ClinVar |
1 | g.68444612del | CA2586966744 | RPE65 | c.414del (p.Val139TrpfsTer?) c.138del (p.Val47TrpfsTer?) | |
1 | g.68444612T>A | CA902510 | RPE65 | c.414A>T (p.Pro138=) c.138A>T (p.Pro46=) | dbSNP ExAC gnomAD v2 |
1 | g.68444612T>C | CA418282722 | RPE65 | c.414A>G (p.Pro138=) c.138A>G (p.Pro46=) | |
1 | g.68444612T>G | CA418282721 | RPE65 | c.414A>C (p.Pro138=) c.138A>C (p.Pro46=) | ClinVar dbSNP |
1 | g.68444612T= | CA1173563412 | RPE65 | c.414A= (p.Pro138=) c.138A= (p.Pro46=) | |
1 | g.68444613G>A | CA340747872 | RPE65 | c.413C>T (p.Pro138Leu) c.137C>T (p.Pro46Leu) | |
1 | g.68444613G>C | CA340747873 | RPE65 | c.413C>G (p.Pro138Arg) c.137C>G (p.Pro46Arg) | |
1 | g.68444613G>T | CA340747874 | RPE65 | c.413C>A (p.Pro138Gln) c.137C>A (p.Pro46Gln) | COSMIC |
1 | g.68444614G>A | CA340747875 | RPE65 | c.412C>T (p.Pro138Ser) c.136C>T (p.Pro46Ser) | gnomAD v4 |
1 | g.68444614G>C | CA340747876 | RPE65 | c.412C>G (p.Pro138Ala) c.136C>G (p.Pro46Ala) | |
1 | g.68444614G>T | CA340747877 | RPE65 | c.412C>A (p.Pro138Thr) c.136C>A (p.Pro46Thr) | |
1 | g.68444615G>A | CA418282723 | RPE65 | c.411C>T (p.Tyr137=) c.135C>T (p.Tyr45=) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.68444615G>C | CA340747878 | RPE65 | c.411C>G (p.Tyr137Ter) c.135C>G (p.Tyr45Ter) | ClinVar |
1 | g.68444615G= | CA1173563413 | RPE65 | c.411C= (p.Tyr137=) c.135C= (p.Tyr45=) | |
1 | g.68444615G>T | CA340747879 | RPE65 | c.411C>A (p.Tyr137Ter) c.135C>A (p.Tyr45Ter) | ClinVar |
1 | g.68444616T>A | CA340747880 | RPE65 | c.410A>T (p.Tyr137Phe) c.134A>T (p.Tyr45Phe) | |
1 | g.68444616T>C | CA340747881 | RPE65 | c.410A>G (p.Tyr137Cys) c.134A>G (p.Tyr45Cys) | |
1 | g.68444616T>G | CA340747882 | RPE65 | c.410A>C (p.Tyr137Ser) c.134A>C (p.Tyr45Ser) | |
1 | g.68444617A>C | CA340747883 | RPE65 | c.409T>G (p.Tyr137Asp) c.133T>G (p.Tyr45Asp) | |
1 | g.68444617A>G | CA340747884 | RPE65 | c.409T>C (p.Tyr137His) c.133T>C (p.Tyr45His) | gnomAD v4 |
1 | g.68444617A>T | CA340747885 | RPE65 | c.409T>A (p.Tyr137Asn) c.133T>A (p.Tyr45Asn) | |
1 | g.68444618G>A | CA902511 | RPE65 | c.408C>T (p.Val136=) c.132C>T (p.Val44=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.68444618G>C | CA418282725 | RPE65 | c.408C>G (p.Val136=) c.132C>G (p.Val44=) | |
1 | g.68444618G= | CA1143935221 | RPE65 | c.408C= (p.Val136=) c.132C= (p.Val44=) | |
1 | g.68444618G>T | CA418282724 | RPE65 | c.408C>A (p.Val136=) c.132C>A (p.Val44=) | COSMIC |
1 | g.68444619A= | CA1173563414 | RPE65 | c.407T= (p.Val136=) c.131T= (p.Val44=) | |
1 | g.68444619A>C | CA340747886 | RPE65 | c.407T>G (p.Val136Gly) c.131T>G (p.Val44Gly) | ClinVar dbSNP |
1 | g.68444619A>G | CA340747887 | RPE65 | c.407T>C (p.Val136Ala) c.131T>C (p.Val44Ala) | |
1 | g.68444619A>T | CA340747888 | RPE65 | c.407T>A (p.Val136Asp) c.131T>A (p.Val44Asp) | |
1 | g.68444620C>A | CA902512 | RPE65 | c.406G>T (p.Val136Phe) c.130G>T (p.Val44Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.68444620C= | CA1145569277 | RPE65 | c.406G= (p.Val136=) c.130G= (p.Val44=) | |
1 | g.68444620C>G | CA902513 | RPE65 | c.406G>C (p.Val136Leu) c.130G>C (p.Val44Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.68444620C>T | CA340747889 | RPE65 | c.406G>A (p.Val136Ile) c.130G>A (p.Val44Ile) | gnomAD v4 |
1 | g.68444621A= | CA1173563415 | RPE65 | c.405T= (p.Asn135=) c.129T= (p.Asn43=) | |
1 | g.68444621A>C | CA340747890 | RPE65 | c.405T>G (p.Asn135Lys) c.129T>G (p.Asn43Lys) | |
1 | g.68444621A>G | CA418282726 | RPE65 | c.405T>C (p.Asn135=) c.129T>C (p.Asn43=) | dbSNP |
1 | g.68444621A>T | CA340747891 | RPE65 | c.405T>A (p.Asn135Lys) c.129T>A (p.Asn43Lys) | ClinVar dbSNP gnomAD v4 |
1 | g.68444622T>A | CA340747892 | RPE65 | c.404A>T (p.Asn135Ile) c.128A>T (p.Asn43Ile) | |
1 | g.68444622T>C | CA340747893 | RPE65 | c.404A>G (p.Asn135Ser) c.128A>G (p.Asn43Ser) | |
1 | g.68444622T>G | CA340747894 | RPE65 | c.404A>C (p.Asn135Thr) c.128A>C (p.Asn43Thr) | gnomAD v4 |
1 | g.68444623T>A | CA340747895 | RPE65 | c.403A>T (p.Asn135Tyr) c.127A>T (p.Asn43Tyr) | |
1 | g.68444623T>C | CA340747896 | RPE65 | c.403A>G (p.Asn135Asp) c.127A>G (p.Asn43Asp) | |
1 | g.68444623T>G | CA340747897 | RPE65 | c.403A>C (p.Asn135His) c.127A>C (p.Asn43His) | |
1 | g.68444623_68444626delinsTAAC | CA1173563416 | RPE65 | c.400_403delinsGTTA (p.Val134=) c.124_127delinsGTTA (p.Val42=) | |
1 | g.68444624A= | CA1173563417 | RPE65 | c.402T= (p.Val134=) c.126T= (p.Val42=) | |
1 | g.68444624A>C | CA418282727 | RPE65 | c.402T>G (p.Val134=) c.126T>G (p.Val42=) | |
1 | g.68444624A>G | CA418282729 | RPE65 | c.402T>C (p.Val134=) c.126T>C (p.Val42=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.68444624A>T | CA418282728 | RPE65 | c.402T>A (p.Val134=) c.126T>A (p.Val42=) | |
1 | g.68444626_68444628del | CA738204684 | RPE65 | c.400_402del (p.Val134del) c.124_126del (p.Val42del) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.68444625A>C | CA340747899 | RPE65 | c.401T>G (p.Val134Gly) c.125T>G (p.Val42Gly) | |
1 | g.68444625A>G | CA340747900 | RPE65 | c.401T>C (p.Val134Ala) c.125T>C (p.Val42Ala) | |
1 | g.68444625A>T | CA340747898 | RPE65 | c.401T>A (p.Val134Asp) c.125T>A (p.Val42Asp) | |
1 | g.68444626C>A | CA340747901 | RPE65 | c.400G>T (p.Val134Phe) c.124G>T (p.Val42Phe) | gnomAD v4 |
1 | g.68444626C= | CA1148259220 | RPE65 | c.400G= (p.Val134=) c.124G= (p.Val42=) | |
1 | g.68444626C>G | CA340747902 | RPE65 | c.400G>C (p.Val134Leu) c.124G>C (p.Val42Leu) | |
1 | g.68444626C>T | CA902514 | RPE65 | c.400G>A (p.Val134Ile) c.124G>A (p.Val42Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.68444627A= | CA1140685663 | RPE65 | c.399T= (p.Leu133=) c.123T= (p.Leu41=) | |
1 | g.68444627A>C | CA418282730 | RPE65 | c.399T>G (p.Leu133=) c.123T>G (p.Leu41=) | |
1 | g.68444627A>G | CA226548 | RPE65 | c.399T>C (p.Leu133=) c.123T>C (p.Leu41=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.68444627A>T | CA418282731 | RPE65 | c.399T>A (p.Leu133=) c.123T>A (p.Leu41=) | |
1 | g.68444628A= | CA1173563418 | RPE65 | c.398T= (p.Leu133=) c.122T= (p.Leu41=) | |
1 | g.68444628A>C | CA340747903 | RPE65 | c.398T>G (p.Leu133Arg) c.122T>G (p.Leu41Arg) | |
1 | g.68444628A>G | CA340747904 | RPE65 | c.398T>C (p.Leu133Pro) c.122T>C (p.Leu41Pro) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.68444628A>T | CA340747905 | RPE65 | c.398T>A (p.Leu133His) c.122T>A (p.Leu41His) | |
1 | g.68444629G>A | CA340747906 | RPE65 | c.397C>T (p.Leu133Phe) c.121C>T (p.Leu41Phe) | |
1 | g.68444629G>C | CA340747907 | RPE65 | c.397C>G (p.Leu133Val) c.121C>G (p.Leu41Val) | |
1 | g.68444629G>T | CA340747908 | RPE65 | c.397C>A (p.Leu133Ile) c.121C>A (p.Leu41Ile) | |
1 | g.68444630G>A | CA418282732 | RPE65 | c.396C>T (p.Ala132=) c.120C>T (p.Ala40=) | |
1 | g.68444630G>C | CA418282733 | RPE65 | c.396C>G (p.Ala132=) c.120C>G (p.Ala40=) | gnomAD v4 |
1 | g.68444630G>T | CA418282734 | RPE65 | c.396C>A (p.Ala132=) c.120C>A (p.Ala40=) | |
1 | g.68444631G>A | CA340747909 | RPE65 | c.395C>T (p.Ala132Val) c.119C>T (p.Ala40Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.68444631G>C | CA340747910 | RPE65 | c.395C>G (p.Ala132Gly) c.119C>G (p.Ala40Gly) | |
1 | g.68444631G= | CA1173563419 | RPE65 | c.395C= (p.Ala132=) c.119C= (p.Ala40=) | |
1 | g.68444631G>T | CA340747911 | RPE65 | c.395C>A (p.Ala132Asp) c.119C>A (p.Ala40Asp) | |
1 | g.68444632C>A | CA340747913 | RPE65 | c.394G>T (p.Ala132Ser) c.118G>T (p.Ala40Ser) | |
1 | g.68444632C= | CA1140725791 | RPE65 | c.394G= (p.Ala132=) c.118G= (p.Ala40=) | |
1 | g.68444632C>G | CA340747912 | RPE65 | c.394G>C (p.Ala132Pro) c.118G>C (p.Ala40Pro) | |
1 | g.68444632C>T | CA226547 | RPE65 | c.394G>A (p.Ala132Thr) c.118G>A (p.Ala40Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.68444633A>C | CA340747914 | RPE65 | c.393T>G (p.Asn131Lys) c.117T>G (p.Asn39Lys) | |
1 | g.68444633A>G | CA418282735 | RPE65 | c.393T>C (p.Asn131=) c.117T>C (p.Asn39=) | |
1 | g.68444633A>T | CA340747915 | RPE65 | c.393T>A (p.Asn131Lys) c.117T>A (p.Asn39Lys) | |
1 | g.68444634T>A | CA340747916 | RPE65 | c.392A>T (p.Asn131Ile) c.116A>T (p.Asn39Ile) | |
1 | g.68444634T>C | CA340747917 | RPE65 | c.392A>G (p.Asn131Ser) c.116A>G (p.Asn39Ser) | |
1 | g.68444634T>G | CA340747918 | RPE65 | c.392A>C (p.Asn131Thr) c.116A>C (p.Asn39Thr) | |
1 | g.68444635T>A | CA340747919 | RPE65 | c.391A>T (p.Asn131Tyr) c.115A>T (p.Asn39Tyr) | |
1 | g.68444635T>C | CA902515 | RPE65 | c.391A>G (p.Asn131Asp) c.115A>G (p.Asn39Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.68444635T>G | CA340747920 | RPE65 | c.391A>C (p.Asn131His) c.115A>C (p.Asn39His) | |
1 | g.68444635T= | CA1149053732 | RPE65 | c.391A= (p.Asn131=) c.115A= (p.Asn39=) | |
1 | g.68444636G>A | CA418282736 | RPE65 | c.390C>T (p.Asp130=) c.114C>T (p.Asp38=) | ClinVar dbSNP |
1 | g.68444636G>C | CA340747921 | RPE65 | c.390C>G (p.Asp130Glu) c.114C>G (p.Asp38Glu) | |
1 | g.68444636G>T | CA340747922 | RPE65 | c.390C>A (p.Asp130Glu) c.114C>A (p.Asp38Glu) | |
1 | g.68444637T>A | CA340747923 | RPE65 | c.389A>T (p.Asp130Val) c.113A>T (p.Asp38Val) | |
1 | g.68444637T>C | CA340747924 | RPE65 | c.389A>G (p.Asp130Gly) c.113A>G (p.Asp38Gly) | COSMIC |
1 | g.68444637T>G | CA340747925 | RPE65 | c.389A>C (p.Asp130Ala) c.113A>C (p.Asp38Ala) | |
1 | g.68444638C>A | CA340747927 | RPE65 | c.388G>T (p.Asp130Tyr) c.112G>T (p.Asp38Tyr) | gnomAD v4 |
1 | g.68444638C>G | CA340747928 | RPE65 | c.388G>C (p.Asp130His) c.112G>C (p.Asp38His) | |
1 | g.68444638C>T | CA340747926 | RPE65 | c.388G>A (p.Asp130Asn) c.112G>A (p.Asp38Asn) | |
1 | g.68444639A= | CA1173563420 | RPE65 | c.387T= (p.Thr129=) c.111T= (p.Thr37=) | |
1 | g.68444639A>C | CA418282738 | RPE65 | c.387T>G (p.Thr129=) c.111T>G (p.Thr37=) | |
1 | g.68444639A>G | CA418282739 | RPE65 | c.387T>C (p.Thr129=) c.111T>C (p.Thr37=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.68444639A>T | CA418282740 | RPE65 | c.387T>A (p.Thr129=) c.111T>A (p.Thr37=) | |
1 | g.68444640G>A | CA902516 | RPE65 | c.386C>T (p.Thr129Ile) c.110C>T (p.Thr37Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.68444640G>C | CA340747929 | RPE65 | c.386C>G (p.Thr129Ser) c.110C>G (p.Thr37Ser) | |
1 | g.68444640G= | CA1173563421 | RPE65 | c.386C= (p.Thr129=) c.110C= (p.Thr37=) | |
1 | g.68444640G>T | CA340747930 | RPE65 | c.386C>A (p.Thr129Asn) c.110C>A (p.Thr37Asn) | |
1 | g.68444641T>A | CA340747931 | RPE65 | c.385A>T (p.Thr129Ser) c.109A>T (p.Thr37Ser) | |
1 | g.68444641T>C | CA340747932 | RPE65 | c.385A>G (p.Thr129Ala) c.109A>G (p.Thr37Ala) | gnomAD v4 |
1 | g.68444641T>G | CA340747933 | RPE65 | c.385A>C (p.Thr129Pro) c.109A>C (p.Thr37Pro) | |
1 | g.68444642A>C | CA418282741 | RPE65 | c.384T>G (p.Val128=) c.108T>G (p.Val36=) | |
1 | g.68444642A>G | CA418282742 | RPE65 | c.384T>C (p.Val128=) c.108T>C (p.Val36=) | |
1 | g.68444642A>T | CA418282743 | RPE65 | c.384T>A (p.Val128=) c.108T>A (p.Val36=) | |
1 | g.68444643A>C | CA340747934 | RPE65 | c.383T>G (p.Val128Gly) c.107T>G (p.Val36Gly) | |
1 | g.68444643A>G | CA340747935 | RPE65 | c.383T>C (p.Val128Ala) c.107T>C (p.Val36Ala) | gnomAD v4 |
1 | g.68444643A>T | CA340747936 | RPE65 | c.383T>A (p.Val128Asp) c.107T>A (p.Val36Asp) | |
1 | g.68444644C>A | CA902517 | RPE65 | c.382G>T (p.Val128Phe) c.106G>T (p.Val36Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.68444644C= | CA1144071542 | RPE65 | c.382G= (p.Val128=) c.106G= (p.Val36=) | |
1 | g.68444644C>G | CA340747937 | RPE65 | c.382G>C (p.Val128Leu) c.106G>C (p.Val36Leu) | gnomAD v4 |
1 | g.68444644C>T | CA340747938 | RPE65 | c.382G>A (p.Val128Ile) c.106G>A (p.Val36Ile) | ClinVar |
1 | g.68444645C>A | CA340747940 | RPE65 | c.381G>T (p.Glu127Asp) c.105G>T (p.Glu35Asp) | |
1 | g.68444645C>G | CA340747939 | RPE65 | c.381G>C (p.Glu127Asp) c.105G>C (p.Glu35Asp) | |
1 | g.68444645C>T | CA418282744 | RPE65 | c.381G>A (p.Glu127=) c.105G>A (p.Glu35=) | gnomAD v4 |
1 | g.68444646T>A | CA340747941 | RPE65 | c.380A>T (p.Glu127Val) c.104A>T (p.Glu35Val) | |
1 | g.68444646T>C | CA340747942 | RPE65 | c.380A>G (p.Glu127Gly) c.104A>G (p.Glu35Gly) | |
1 | g.68444646T>G | CA340747943 | RPE65 | c.380A>C (p.Glu127Ala) c.104A>C (p.Glu35Ala) | |
1 | g.68444647C>A | CA340747944 | RPE65 | c.379G>T (p.Glu127Ter) c.103G>T (p.Glu35Ter) | |
1 | g.68444647C>G | CA340747945 | RPE65 | c.379G>C (p.Glu127Gln) c.103G>C (p.Glu35Gln) | |
1 | g.68444647C>T | CA340747946 | RPE65 | c.379G>A (p.Glu127Lys) c.103G>A (p.Glu35Lys) | gnomAD v4 COSMIC |
1 | g.68444648T>A | CA418282745 | RPE65 | c.378A>T (p.Val126=) c.102A>T (p.Val34=) | |
1 | g.68444648T>C | CA418282746 | RPE65 | c.378A>G (p.Val126=) c.102A>G (p.Val34=) | gnomAD v4 |
1 | g.68444648T>G | CA418282747 | RPE65 | c.378A>C (p.Val126=) c.102A>C (p.Val34=) | |
1 | g.68444649A= | CA1173563422 | RPE65 | c.377T= (p.Val126=) c.101T= (p.Val34=) | |
1 | g.68444649A>C | CA340747947 | RPE65 | c.377T>G (p.Val126Gly) c.101T>G (p.Val34Gly) | |
1 | g.68444649A>G | CA340747948 | RPE65 | c.377T>C (p.Val126Ala) c.101T>C (p.Val34Ala) | ClinVar dbSNP gnomAD v4 |
1 | g.68444649A>T | CA340747949 | RPE65 | c.377T>A (p.Val126Glu) c.101T>A (p.Val34Glu) | |
1 | g.68444650del | CA2586966745 | RPE65 | c.376del (p.Val126Ter) c.100del (p.Val34Ter) | |
1 | g.68444650C>A | CA340747950 | RPE65 | c.376G>T (p.Val126Leu) c.100G>T (p.Val34Leu) | |
1 | g.68444650C= | CA1173563423 | RPE65 | c.376G= (p.Val126=) c.100G= (p.Val34=) | |
1 | g.68444650C>G | CA340747951 | RPE65 | c.376G>C (p.Val126Leu) c.100G>C (p.Val34Leu) | |
1 | g.68444650C>T | CA340747952 | RPE65 | c.376G>A (p.Val126Ile) c.100G>A (p.Val34Ile) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.68444651T>A | CA418282748 | RPE65 | c.375A>T (p.Gly125=) c.99A>T (p.Gly33=) | |
1 | g.68444651T>C | CA902518 | RPE65 | c.375A>G (p.Gly125=) c.99A>G (p.Gly33=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.68444651T>G | CA418282749 | RPE65 | c.375A>C (p.Gly125=) c.99A>C (p.Gly33=) | |
1 | g.68444651T= | CA1173563425 | RPE65 | c.375A= (p.Gly125=) c.99A= (p.Gly33=) | |
1 | g.68444651_68444652delinsTC | CA1173563424 | RPE65 | c.374_375delinsGA (p.Gly125=) c.98_99delinsGA (p.Gly33=) | |
1 | g.68444651_68444656del | CA2744001084 | RPE65 | c.370_375del (p.Arg124_Gly125del) c.94_99del (p.Arg32_Gly33del) | |
1 | g.68444652C>A | CA340747955 | RPE65 | c.374G>T (p.Gly125Val) c.98G>T (p.Gly33Val) | |
1 | g.68444652C>G | CA340747954 | RPE65 | c.374G>C (p.Gly125Ala) c.98G>C (p.Gly33Ala) | |
1 | g.68444652C>T | CA340747953 | RPE65 | c.374G>A (p.Gly125Glu) c.98G>A (p.Gly33Glu) | |
1 | g.68444653del | CA902519 | RPE65 | c.374del (p.Gly125GlufsTer2) c.98del (p.Gly33GlufsTer2) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.68444653C>A | CA340747957 | RPE65 | c.373G>T (p.Gly125Ter) c.97G>T (p.Gly33Ter) | |
1 | g.68444653C>G | CA340747956 | RPE65 | c.373G>C (p.Gly125Arg) c.97G>C (p.Gly33Arg) | |
1 | g.68444653C>T | CA340747958 | RPE65 | c.373G>A (p.Gly125Arg) c.97G>A (p.Gly33Arg) | gnomAD v4 COSMIC |
1 | g.68444654T>A | CA418282750 | RPE65 | c.372A>T (p.Arg124=) c.96A>T (p.Arg32=) | |
1 | g.68444654T>C | CA418282751 | RPE65 | c.372A>G (p.Arg124=) c.96A>G (p.Arg32=) | |
1 | g.68444654T>G | CA418282752 | RPE65 | c.372A>C (p.Arg124=) c.96A>C (p.Arg32=) | ClinVar dbSNP |
1 | g.68444655C>A | CA340747959 | RPE65 | c.371G>T (p.Arg124Leu) c.95G>T (p.Arg32Leu) | COSMIC |
1 | g.68444655C= | CA1148891647 | RPE65 | c.371G= (p.Arg124=) c.95G= (p.Arg32=) | |
1 | g.68444655C>G | CA340747960 | RPE65 | c.371G>C (p.Arg124Pro) c.95G>C (p.Arg32Pro) | dbSNP |
1 | g.68444655C>T | CA902520 | RPE65 | c.371G>A (p.Arg124Gln) c.95G>A (p.Arg32Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.68444656G>A | CA226545 | RPE65 | c.370C>T (p.Arg124Ter) c.94C>T (p.Arg32Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.68444656G>C | CA340747961 | RPE65 | c.370C>G (p.Arg124Gly) c.94C>G (p.Arg32Gly) | |
1 | g.68444656G= | CA1140725792 | RPE65 | c.370C= (p.Arg124=) c.94C= (p.Arg32=) | |
1 | g.68444656G>T | CA902521 | RPE65 | c.370C>A (p.Arg124=) c.94C>A (p.Arg32=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.68444656_68444658del | CA2744001085 | RPE65 | c.368_370del (p.Phe123Ter) c.92_94del (p.Phe31Ter) | |
1 | g.68444657A>C | CA340747962 | RPE65 | c.369T>G (p.Phe123Leu) c.93T>G (p.Phe31Leu) | |
1 | g.68444657A>G | CA418282753 | RPE65 | c.369T>C (p.Phe123=) c.93T>C (p.Phe31=) | |
1 | g.68444657A>T | CA340747963 | RPE65 | c.369T>A (p.Phe123Leu) c.93T>A (p.Phe31Leu) | |
1 | g.68444658A>C | CA340747964 | RPE65 | c.368T>G (p.Phe123Cys) c.92T>G (p.Phe31Cys) | |
1 | g.68444658A>G | CA340747966 | RPE65 | c.368T>C (p.Phe123Ser) c.92T>C (p.Phe31Ser) | |
1 | g.68444658A>T | CA340747968 | RPE65 | c.368T>A (p.Phe123Tyr) c.92T>A (p.Phe31Tyr) | |
1 | g.68444659A= | CA1173563426 | RPE65 | c.367T= (p.Phe123=) c.91T= (p.Phe31=) | |
1 | g.68444659A>C | CA340747970 | RPE65 | c.367T>G (p.Phe123Val) c.91T>G (p.Phe31Val) | |
1 | g.68444659A>G | CA902522 | RPE65 | c.367T>C (p.Phe123Leu) c.91T>C (p.Phe31Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.68444659A>T | CA340747972 | RPE65 | c.367T>A (p.Phe123Ile) c.91T>A (p.Phe31Ile) | |
1 | g.68444660G>A | CA418282754 | RPE65 | c.366C>T (p.Tyr122=) c.90C>T (p.Tyr30=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.68444660G>C | CA340747975 | RPE65 | c.366C>G (p.Tyr122Ter) c.90C>G (p.Tyr30Ter) | |
1 | g.68444660G= | CA1173563427 | RPE65 | c.366C= (p.Tyr122=) c.90C= (p.Tyr30=) | |
1 | g.68444660G>T | CA340747977 | RPE65 | c.366C>A (p.Tyr122Ter) c.90C>A (p.Tyr30Ter) | ClinVar |
1 | g.68444661T>A | CA340747983 | RPE65 | c.365A>T (p.Tyr122Phe) c.89A>T (p.Tyr30Phe) | |
1 | g.68444661T>C | CA340747981 | RPE65 | c.365A>G (p.Tyr122Cys) c.89A>G (p.Tyr30Cys) | gnomAD v4 |
1 | g.68444661T>G | CA340747980 | RPE65 | c.365A>C (p.Tyr122Ser) c.89A>C (p.Tyr30Ser) | |
1 | g.68444662A>C | CA340747985 | RPE65 | c.364T>G (p.Tyr122Asp) c.88T>G (p.Tyr30Asp) | |
1 | g.68444662A>G | CA340747987 | RPE65 | c.364T>C (p.Tyr122His) c.88T>C (p.Tyr30His) | |
1 | g.68444662A>T | CA340747989 | RPE65 | c.364T>A (p.Tyr122Asn) c.88T>A (p.Tyr30Asn) | |
1 | g.68444663A>C | CA418282755 | RPE65 | c.363T>G (p.Ser121=) c.87T>G (p.Ser29=) | |
1 | g.68444663A>G | CA418282756 | RPE65 | c.363T>C (p.Ser121=) c.87T>C (p.Ser29=) | |
1 | g.68444663A>T | CA418282757 | RPE65 | c.363T>A (p.Ser121=) c.87T>A (p.Ser29=) | |
1 | g.68444664G>A | CA340747991 | RPE65 | c.362C>T (p.Ser121Phe) c.86C>T (p.Ser29Phe) | |
1 | g.68444664G>C | CA340747992 | RPE65 | c.362C>G (p.Ser121Cys) c.86C>G (p.Ser29Cys) | |
1 | g.68444664G>T | CA340747994 | RPE65 | c.362C>A (p.Ser121Tyr) c.86C>A (p.Ser29Tyr) | gnomAD v4 |
1 | g.68444664_68444665delinsGA | CA1173563428 | RPE65 | c.361_362delinsTC (p.Ser121=) c.85_86delinsTC (p.Ser29=) | |
1 | g.68444665A>C | CA340747996 | RPE65 | c.361T>G (p.Ser121Ala) c.85T>G (p.Ser29Ala) | |
1 | g.68444665A>G | CA340747998 | RPE65 | c.361T>C (p.Ser121Pro) c.85T>C (p.Ser29Pro) | |
1 | g.68444665A>T | CA340748000 | RPE65 | c.361T>A (p.Ser121Thr) c.85T>A (p.Ser29Thr) | |
1 | g.68444665_68444671delinsAAAAAAA | CA1141580845 | RPE65 | c.355_361delinsTTTTTTT (p.Phe119=) c.79_85delinsTTTTTTT (p.Phe27=) | |
1 | g.68444671dup | CA23575009 | RPE65 | c.361dup (p.Ser121PhefsTer10) c.85dup (p.Ser29PhefsTer10) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.68444671del | CA523301836 | RPE65 | c.361del (p.Ser121LeufsTer6) c.85del (p.Ser29LeufsTer6) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.68444666A= | CA1173563429 | RPE65 | c.360T= (p.Phe120=) c.84T= (p.Phe28=) | |
1 | g.68444666A>C | CA340748002 | RPE65 | c.360T>G (p.Phe120Leu) c.84T>G (p.Phe28Leu) | |
1 | g.68444666A>G | CA902523 | RPE65 | c.360T>C (p.Phe120=) c.84T>C (p.Phe28=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.68444666A>T | CA340748005 | RPE65 | c.360T>A (p.Phe120Leu) c.84T>A (p.Phe28Leu) | |
1 | g.68444667A= | CA1173563430 | RPE65 | c.359T= (p.Phe120=) c.83T= (p.Phe28=) | |
1 | g.68444667A>C | CA340748009 | RPE65 | c.359T>G (p.Phe120Cys) c.83T>G (p.Phe28Cys) | |
1 | g.68444667A>G | CA340748011 | RPE65 | c.359T>C (p.Phe120Ser) c.83T>C (p.Phe28Ser) | dbSNP |
1 | g.68444667A>T | CA340748007 | RPE65 | c.359T>A (p.Phe120Tyr) c.83T>A (p.Phe28Tyr) | |
1 | g.68444668A= | CA1173563431 | RPE65 | c.358T= (p.Phe120=) c.82T= (p.Phe28=) | |
1 | g.68444668A>C | CA340748013 | RPE65 | c.358T>G (p.Phe120Val) c.82T>G (p.Phe28Val) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.68444668A>G | CA340748015 | RPE65 | c.358T>C (p.Phe120Leu) c.82T>C (p.Phe28Leu) | |
1 | g.68444668A>T | CA340748016 | RPE65 | c.358T>A (p.Phe120Ile) c.82T>A (p.Phe28Ile) | |
1 | g.68444669A>C | CA340748019 | RPE65 | c.357T>G (p.Phe119Leu) c.81T>G (p.Phe27Leu) | gnomAD v4 |
1 | g.68444669A>G | CA418282758 | RPE65 | c.357T>C (p.Phe119=) c.81T>C (p.Phe27=) | |
1 | g.68444669A>T | CA340748020 | RPE65 | c.357T>A (p.Phe119Leu) c.81T>A (p.Phe27Leu) | |
1 | g.68444670A>C | CA340748022 | RPE65 | c.356T>G (p.Phe119Cys) c.80T>G (p.Phe27Cys) | |
1 | g.68444670A>G | CA340748023 | RPE65 | c.356T>C (p.Phe119Ser) c.80T>C (p.Phe27Ser) | |
1 | g.68444670A>T | CA340748025 | RPE65 | c.356T>A (p.Phe119Tyr) c.80T>A (p.Phe27Tyr) | |
1 | g.68444671A= | CA1173563432 | RPE65 | c.355T= (p.Phe119=) c.79T= (p.Phe27=) | |
1 | g.68444671A>C | CA340748027 | RPE65 | c.355T>G (p.Phe119Val) c.79T>G (p.Phe27Val) | dbSNP |
1 | g.68444671A>G | CA340748029 | RPE65 | c.355T>C (p.Phe119Leu) c.79T>C (p.Phe27Leu) | |
1 | g.68444671A>T | CA340748030 | RPE65 | c.355T>A (p.Phe119Ile) c.79T>A (p.Phe27Ile) | |
1 | g.68444672C>A | CA340748033 | RPE65 | c.354G>T (p.Arg118Ser) c.78G>T (p.Arg26Ser) | ClinVar dbSNP |
1 | g.68444672C= | CA1173563433 | RPE65 | c.354G= (p.Arg118=) c.78G= (p.Arg26=) | |
1 | g.68444672C>G | CA340748034 | RPE65 | c.354G>C (p.Arg118Ser) c.78G>C (p.Arg26Ser) | gnomAD v4 |
1 | g.68444672C>T | CA23575050 | RPE65 | c.354G>A (p.Arg118=) c.78G>A (p.Arg26=) | dbSNP gnomAD v4 |
1 | g.68444672_68444673insTGTTTGTAATGAATATCCAGGAGTCCATA | CA1173563434 | RPE65 | c.354-1_354insTATGGACTCCTGGATATTCATTACAAACA (n.354-1_354insTATGGACTCCTGGATATTCATTACAAACA) c.78-1_78insTATGGACTCCTGGATATTCATTACAAACA (n.78-1_78insTATGGACTCCTGGATATTCATTACAAACA) | dbSNP |
1 | g.68444673C>A | CA340748036 | RPE65 | c.354-1G>T (n.354-1G>T) c.78-1G>T (n.78-1G>T) | ClinVar dbSNP |
1 | g.68444673C>G | CA340748040 | RPE65 | c.354-1G>C (n.354-1G>C) c.78-1G>C (n.78-1G>C) | |
1 | g.68444673C>T | CA340748038 | RPE65 | c.354-1G>A (n.354-1G>A) c.78-1G>A (n.78-1G>A) | ClinVar dbSNP |
1 | g.68444674del | CA2573131984 | RPE65 | c.354-2del (n.354-2del) c.78-2del (n.78-2del) | ClinVar dbSNP |
1 | g.68444674T>A | CA340748042 | RPE65 | c.354-2A>T (n.354-2A>T) c.78-2A>T (n.78-2A>T) | |
1 | g.68444674T>C | CA340748044 | RPE65 | c.354-2A>G (n.354-2A>G) c.78-2A>G (n.78-2A>G) | ClinVar |
1 | g.68444674T>G | CA340748045 | RPE65 | c.354-2A>C (n.354-2A>C) c.78-2A>C (n.78-2A>C) | |
1 | g.68444676T>C | CA2572040237 | RPE65 | c.354-4A>G (n.354-4A>G) c.78-4A>G (n.78-4A>G) | |
1 | g.68444677A= | CA1173563436 | RPE65 | c.354-5T= (n.354-5T=) c.78-5T= (n.78-5T=) | |
1 | g.68444677A>G | CA1173563435 | RPE65 | c.354-5T>C (n.354-5T>C) c.78-5T>C (n.78-5T>C) | dbSNP |
1 | g.68444679A= | CA1173563437 | RPE65 | c.354-7T= (n.354-7T=) c.78-7T= (n.78-7T=) | |
1 | g.68444679A>G | CA902524 | RPE65 | c.354-7T>C (n.354-7T>C) c.78-7T>C (n.78-7T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.68444681A>G | CA2569243273 | RPE65 | c.354-9T>C (n.354-9T>C) c.78-9T>C (n.78-9T>C) | |
1 | g.68444682C>A | CA523301921 | RPE65 | c.354-10G>T (n.354-10G>T) c.78-10G>T (n.78-10G>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.68444682C= | CA1173563438 | RPE65 | c.354-10G= (n.354-10G=) c.78-10G= (n.78-10G=) | |
1 | g.68444682C>T | CA2646150339 | RPE65 | c.354-10G>A (n.354-10G>A) c.78-10G>A (n.78-10G>A) | gnomAD v4 |
1 | g.68444684A>G | CA2646150342 | RPE65 | c.354-12T>C (n.354-12T>C) c.78-12T>C (n.78-12T>C) | gnomAD v4 |