UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.1771163_1771166dup | CA2580077990 | CLN8 | c.109_112dup (p.Val38GlyfsTer?) c.62_65dup | ClinVar |
| 8 | g.1771166G>A | CA4599201 | CLN8 | c.112G>A (p.Val38Ile) c.65G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.1771166G>C | CA369952894 | CLN8 | c.112G>C (p.Val38Leu) c.65G>C | |
| 8 | g.1771166G= | CA1757666818 | CLN8 | c.112G= (p.Val38=) c.65G= | |
| 8 | g.1771166G>T | CA4599202 | CLN8 | c.112G>T (p.Val38Phe) c.65G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.1771167T>A | CA369952895 | CLN8 | c.113T>A (p.Val38Asp) c.66T>A | gnomAD v4 |
| 8 | g.1771167T>C | CA369952896 | CLN8 | c.113T>C (p.Val38Ala) c.66T>C | |
| 8 | g.1771167T>G | CA369952897 | CLN8 | c.113T>G (p.Val38Gly) c.66T>G | gnomAD v4 |
| 8 | g.1771168C>A | CA459142876 | CLN8 | c.114C>A (p.Val38=) c.67C>A | ClinVar dbSNP gnomAD v4 |
| 8 | g.1771168C= | CA1757666823 | CLN8 | c.114C= (p.Val38=) c.67C= | |
| 8 | g.1771168C>G | CA459142877 | CLN8 | c.114C>G (p.Val38=) c.67C>G | ClinVar dbSNP |
| 8 | g.1771168C>T | CA459142878 | CLN8 | c.114C>T (p.Val38=) c.67C>T | |
| 8 | g.1771169T>A | CA369952898 | CLN8 | c.115T>A (p.Phe39Ile) c.68T>A | |
| 8 | g.1771169T>C | CA369952899 | CLN8 | c.115T>C (p.Phe39Leu) c.68T>C | |
| 8 | g.1771169T>G | CA369952900 | CLN8 | c.115T>G (p.Phe39Val) c.68T>G | |
| 8 | g.1771170T>A | CA369952903 | CLN8 | c.116T>A (p.Phe39Tyr) c.69T>A | |
| 8 | g.1771170T>C | CA369952901 | CLN8 | c.116T>C (p.Phe39Ser) c.69T>C | |
| 8 | g.1771170T>G | CA369952902 | CLN8 | c.116T>G (p.Phe39Cys) c.69T>G | |
| 8 | g.1771171T>A | CA369952904 | CLN8 | c.117T>A (p.Phe39Leu) c.70T>A | |
| 8 | g.1771171T>C | CA4599204 | CLN8 | c.117T>C (p.Phe39=) c.70T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.1771171T>G | CA4599203 | CLN8 | c.117T>G (p.Phe39Leu) c.70T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.1771171T= | CA1757666830 | CLN8 | c.117T= (p.Phe39=) c.70T= | |
| 8 | g.1771172G>A | CA369952905 | CLN8 | c.118G>A (p.Val40Met) c.71G>A | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.1771172G>C | CA369952906 | CLN8 | c.118G>C (p.Val40Leu) c.71G>C | |
| 8 | g.1771172G= | CA1757666833 | CLN8 | c.118G= (p.Val40=) c.71G= | |
| 8 | g.1771172G>T | CA369952907 | CLN8 | c.118G>T (p.Val40Leu) c.71G>T | |
| 8 | g.1771173T>A | CA369952908 | CLN8 | c.119T>A (p.Val40Glu) c.72T>A | |
| 8 | g.1771173T>C | CA369952909 | CLN8 | c.119T>C (p.Val40Ala) c.72T>C | |
| 8 | g.1771173T>G | CA369952910 | CLN8 | c.119T>G (p.Val40Gly) c.72T>G | |
| 8 | g.1771174G>A | CA459142879 | CLN8 | c.120G>A (p.Val40=) c.73G>A | |
| 8 | g.1771174G>C | CA459142880 | CLN8 | c.120G>C (p.Val40=) c.73G>C | |
| 8 | g.1771174G>T | CA459142881 | CLN8 | c.120G>T (p.Val40=) c.73G>T | |
| 8 | g.1771175G>A | CA369952911 | CLN8 | c.121G>A (p.Val41Ile) c.74G>A | dbSNP gnomAD v4 |
| 8 | g.1771175G>C | CA369952912 | CLN8 | c.121G>C (p.Val41Leu) c.74G>C | |
| 8 | g.1771175G= | CA1757666835 | CLN8 | c.121G= (p.Val41=) c.74G= | |
| 8 | g.1771175G>T | CA369952913 | CLN8 | c.121G>T (p.Val41Phe) c.74G>T | |
| 8 | g.1771176T>A | CA369952914 | CLN8 | c.122T>A (p.Val41Asp) c.75T>A | |
| 8 | g.1771176T>C | CA369952916 | CLN8 | c.122T>C (p.Val41Ala) c.75T>C | gnomAD v4 |
| 8 | g.1771176T>G | CA369952915 | CLN8 | c.122T>G (p.Val41Gly) c.75T>G | dbSNP |
| 8 | g.1771176T= | CA1757666837 | CLN8 | c.122T= (p.Val41=) c.75T= | |
| 8 | g.1771177C>A | CA459142882 | CLN8 | c.123C>A (p.Val41=) c.76C>A | |
| 8 | g.1771177C= | CA1757666839 | CLN8 | c.123C= (p.Val41=) c.76C= | |
| 8 | g.1771177C>G | CA459142883 | CLN8 | c.123C>G (p.Val41=) c.76C>G | ClinVar |
| 8 | g.1771177C>T | CA459142884 | CLN8 | c.123C>T (p.Val41=) c.76C>T | ClinVar dbSNP |
| 8 | g.1771178T>A | CA369952917 | CLN8 | c.124T>A (p.Cys42Ser) c.77T>A | |
| 8 | g.1771178T>C | CA369952919 | CLN8 | c.124T>C (p.Cys42Arg) c.77T>C | |
| 8 | g.1771178T>G | CA369952918 | CLN8 | c.124T>G (p.Cys42Gly) c.77T>G | |
| 8 | g.1771179G>A | CA369952920 | CLN8 | c.125G>A (p.Cys42Tyr) c.78G>A | gnomAD v4 |
| 8 | g.1771179G>C | CA369952921 | CLN8 | c.125G>C (p.Cys42Ser) c.78G>C | |
| 8 | g.1771179G>T | CA369952922 | CLN8 | c.125G>T (p.Cys42Phe) c.78G>T | |
| 8 | g.1771180C>A | CA369952923 | CLN8 | c.126C>A (p.Cys42Ter) c.79C>A | ClinVar dbSNP gnomAD v4 |
| 8 | g.1771180C= | CA1757666842 | CLN8 | c.126C= (p.Cys42=) c.79C= | |
| 8 | g.1771180C>G | CA369952924 | CLN8 | c.126C>G (p.Cys42Trp) c.79C>G | |
| 8 | g.1771180C>T | CA4599205 | CLN8 | c.126C>T (p.Cys42=) c.79C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.1771181C>A | CA369952925 | CLN8 | c.127C>A (p.His43Asn) c.80C>A | |
| 8 | g.1771181C= | CA1757666846 | CLN8 | c.127C= (p.His43=) c.80C= | |
| 8 | g.1771181C>G | CA369952926 | CLN8 | c.127C>G (p.His43Asp) c.80C>G | |
| 8 | g.1771181C>T | CA4599206 | CLN8 | c.127C>T (p.His43Tyr) c.80C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.1771182A>C | CA369952927 | CLN8 | c.128A>C (p.His43Pro) c.81A>C | |
| 8 | g.1771182A>G | CA369952928 | CLN8 | c.128A>G (p.His43Arg) c.81A>G | |
| 8 | g.1771182A>T | CA369952929 | CLN8 | c.128A>T (p.His43Leu) c.81A>T | |
| 8 | g.1771183C>A | CA369952931 | CLN8 | c.129C>A (p.His43Gln) c.82C>A | |
| 8 | g.1771183C= | CA1757666849 | CLN8 | c.129C= (p.His43=) c.82C= | |
| 8 | g.1771183C>G | CA369952930 | CLN8 | c.129C>G (p.His43Gln) c.82C>G | dbSNP |
| 8 | g.1771183C>T | CA459142885 | CLN8 | c.129C>T (p.His43=) c.82C>T | |
| 8 | g.1771184C>A | CA369952932 | CLN8 | c.130C>A (p.Gln44Lys) c.83C>A | |
| 8 | g.1771184C>G | CA369952933 | CLN8 | c.130C>G (p.Gln44Glu) c.83C>G | |
| 8 | g.1771184C>T | CA369952934 | CLN8 | c.130C>T (p.Gln44Ter) c.83C>T | ClinVar dbSNP |
| 8 | g.1771185A= | CA1757666852 | CLN8 | c.131A= (p.Gln44=) c.84A= | |
| 8 | g.1771185A>C | CA369952935 | CLN8 | c.131A>C (p.Gln44Pro) c.84A>C | |
| 8 | g.1771185A>G | CA4599207 | CLN8 | c.131A>G (p.Gln44Arg) c.84A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.1771185A>T | CA369952936 | CLN8 | c.131A>T (p.Gln44Leu) c.84A>T | |
| 8 | g.1771186G>A | CA459142886 | CLN8 | c.132G>A (p.Gln44=) c.85G>A | |
| 8 | g.1771186G>C | CA369952937 | CLN8 | c.132G>C (p.Gln44His) c.85G>C | |
| 8 | g.1771186G>T | CA369952938 | CLN8 | c.132G>T (p.Gln44His) c.85G>T | |
| 8 | g.1771187C>A | CA369952939 | CLN8 | c.133C>A (p.Leu45Met) c.86C>A | |
| 8 | g.1771187C= | CA1757666855 | CLN8 | c.133C= (p.Leu45=) c.86C= | |
| 8 | g.1771187C>G | CA369952940 | CLN8 | c.133C>G (p.Leu45Val) c.86C>G | dbSNP |
| 8 | g.1771187C>T | CA459142887 | CLN8 | c.133C>T (p.Leu45=) c.86C>T | |
| 8 | g.1771188T>A | CA369952941 | CLN8 | c.134T>A (p.Leu45Gln) c.87T>A | |
| 8 | g.1771188T>C | CA369952942 | CLN8 | c.134T>C (p.Leu45Pro) c.87T>C | gnomAD v4 |
| 8 | g.1771188T>G | CA369952943 | CLN8 | c.134T>G (p.Leu45Arg) c.87T>G | |
| 8 | g.1771189G>A | CA4599208 | CLN8 | c.135G>A (p.Leu45=) c.88G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.1771189G>C | CA4599209 | CLN8 | c.135G>C (p.Leu45=) c.88G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.1771189G= | CA1757666857 | CLN8 | c.135G= (p.Leu45=) c.88G= | |
| 8 | g.1771189G>T | CA459142888 | CLN8 | c.135G>T (p.Leu45=) c.88G>T | |
| 8 | g.1771190T>A | CA369952944 | CLN8 | c.136T>A (p.Ser46Thr) c.89T>A | |
| 8 | g.1771190T>C | CA369952945 | CLN8 | c.136T>C (p.Ser46Pro) c.89T>C | |
| 8 | g.1771190T>G | CA369952946 | CLN8 | c.136T>G (p.Ser46Ala) c.89T>G | |
| 8 | g.1771191C>A | CA369952947 | CLN8 | c.137C>A (p.Ser46Tyr) c.90C>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.1771191C= | CA1757666860 | CLN8 | c.137C= (p.Ser46=) c.90C= | |
| 8 | g.1771191C>G | CA369952948 | CLN8 | c.137C>G (p.Ser46Cys) c.90C>G | |
| 8 | g.1771191C>T | CA369952949 | CLN8 | c.137C>T (p.Ser46Phe) c.90C>T | |
| 8 | g.1771192C>A | CA459142889 | CLN8 | c.138C>A (p.Ser46=) c.91C>A | |
| 8 | g.1771192C= | CA1757666863 | CLN8 | c.138C= (p.Ser46=) c.91C= | |
| 8 | g.1771192C>G | CA459142890 | CLN8 | c.138C>G (p.Ser46=) c.91C>G | |
| 8 | g.1771192C>T | CA4599210 | CLN8 | c.138C>T (p.Ser46=) c.91C>T | dbSNP ExAC gnomAD v4 |
| 8 | g.1771193T>A | CA369952950 | CLN8 | c.139T>A (p.Ser47Thr) c.92T>A | |
| 8 | g.1771193T>C | CA369952951 | CLN8 | c.139T>C (p.Ser47Pro) c.92T>C | |
| 8 | g.1771193T>G | CA369952952 | CLN8 | c.139T>G (p.Ser47Ala) c.92T>G | |
| 8 | g.1771194C>A | CA369952953 | CLN8 | c.140C>A (p.Ser47Tyr) c.93C>A | |
| 8 | g.1771194C= | CA1757666869 | CLN8 | c.140C= (p.Ser47=) c.93C= | |
| 8 | g.1771194C>G | CA369952954 | CLN8 | c.140C>G (p.Ser47Cys) c.93C>G | gnomAD v4 |
| 8 | g.1771194C>T | CA4599211 | CLN8 | c.140C>T (p.Ser47Phe) c.93C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.1771195T>A | CA459142891 | CLN8 | c.141T>A (p.Ser47=) c.94T>A | |
| 8 | g.1771195T>C | CA459142892 | CLN8 | c.141T>C (p.Ser47=) c.94T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.1771195T>G | CA459142893 | CLN8 | c.141T>G (p.Ser47=) c.94T>G | |
| 8 | g.1771195T= | CA1757666871 | CLN8 | c.141T= (p.Ser47=) c.94T= | |
| 8 | g.1771196T>A | CA369952957 | CLN8 | c.142T>A (p.Ser48Thr) c.95T>A | |
| 8 | g.1771196T>C | CA369952955 | CLN8 | c.142T>C (p.Ser48Pro) c.95T>C | |
| 8 | g.1771196T>G | CA369952956 | CLN8 | c.142T>G (p.Ser48Ala) c.95T>G | |
| 8 | g.1771197C>A | CA369952958 | CLN8 | c.143C>A (p.Ser48Tyr) c.96C>A | |
| 8 | g.1771197C>G | CA369952959 | CLN8 | c.143C>G (p.Ser48Cys) c.96C>G | gnomAD v4 |
| 8 | g.1771197C>T | CA369952960 | CLN8 | c.143C>T (p.Ser48Phe) c.96C>T | |
| 8 | g.1771198C>A | CA459142939 | CLN8 | c.144C>A (p.Ser48=) c.97C>A | ClinVar dbSNP |
| 8 | g.1771198C>G | CA459142940 | CLN8 | c.144C>G (p.Ser48=) c.97C>G | |
| 8 | g.1771198C>T | CA459142941 | CLN8 | c.144C>T (p.Ser48=) c.97C>T | |
| 8 | g.1771199C>A | CA369952961 | CLN8 | c.145C>A (p.Leu49Met) c.98C>A | |
| 8 | g.1771199C>G | CA369952962 | CLN8 | c.145C>G (p.Leu49Val) c.98C>G | |
| 8 | g.1771199C>T | CA459142942 | CLN8 | c.145C>T (p.Leu49=) c.98C>T | ClinVar gnomAD v4 |
| 8 | g.1771200T>A | CA369952963 | CLN8 | c.146T>A (p.Leu49Gln) c.99T>A | |
| 8 | g.1771200T>C | CA369952964 | CLN8 | c.146T>C (p.Leu49Pro) c.99T>C | |
| 8 | g.1771200T>G | CA369952965 | CLN8 | c.146T>G (p.Leu49Arg) c.99T>G | |
| 8 | g.1771201G>A | CA4599212 | CLN8 | c.147G>A (p.Leu49=) c.100G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.1771201G>C | CA459142944 | CLN8 | c.147G>C (p.Leu49=) c.100G>C | gnomAD v4 |
| 8 | g.1771201G= | CA1757666874 | CLN8 | c.147G= (p.Leu49=) c.100G= | |
| 8 | g.1771201G>T | CA459142946 | CLN8 | c.147G>T (p.Leu49=) c.100G>T | |
| 8 | g.1771202A>C | CA369952966 | CLN8 | c.148A>C (p.Asn50His) c.101A>C | |
| 8 | g.1771202A>G | CA369952967 | CLN8 | c.148A>G (p.Asn50Asp) c.101A>G | |
| 8 | g.1771202A>T | CA369952968 | CLN8 | c.148A>T (p.Asn50Tyr) c.101A>T | |
| 8 | g.1771203A= | CA1757666876 | CLN8 | c.149A= (p.Asn50=) c.102A= | |
| 8 | g.1771203A>C | CA369952969 | CLN8 | c.149A>C (p.Asn50Thr) c.102A>C | |
| 8 | g.1771203A>G | CA4599213 | CLN8 | c.149A>G (p.Asn50Ser) c.102A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.1771203A>T | CA369952970 | CLN8 | c.149A>T (p.Asn50Ile) c.102A>T | |
| 8 | g.1771204T>A | CA369952971 | CLN8 | c.150T>A (p.Asn50Lys) c.103T>A | |
| 8 | g.1771204T>C | CA459142948 | CLN8 | c.150T>C (p.Asn50=) c.103T>C | |
| 8 | g.1771204T>G | CA369952972 | CLN8 | c.150T>G (p.Asn50Lys) c.103T>G | |
| 8 | g.1771205G>A | CA4599214 | CLN8 | c.151G>A (p.Ala51Thr) c.104G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.1771205G>C | CA369952973 | CLN8 | c.151G>C (p.Ala51Pro) c.104G>C | |
| 8 | g.1771205G= | CA1757666879 | CLN8 | c.151G= (p.Ala51=) c.104G= | |
| 8 | g.1771205G>T | CA369952974 | CLN8 | c.151G>T (p.Ala51Ser) c.104G>T | |
| 8 | g.1771206C>A | CA369952975 | CLN8 | c.152C>A (p.Ala51Asp) c.105C>A | |
| 8 | g.1771206C= | CA1757666883 | CLN8 | c.152C= (p.Ala51=) c.105C= | |
| 8 | g.1771206C>G | CA369952976 | CLN8 | c.152C>G (p.Ala51Gly) c.105C>G | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.1771206C>T | CA170445667 | CLN8 | c.152C>T (p.Ala51Val) c.105C>T | dbSNP |
| 8 | g.1771207C>A | CA459142955 | CLN8 | c.153C>A (p.Ala51=) c.106C>A | |
| 8 | g.1771207C>G | CA459142958 | CLN8 | c.153C>G (p.Ala51=) c.106C>G | ClinVar |
| 8 | g.1771207C>T | CA459142957 | CLN8 | c.153C>T (p.Ala51=) c.106C>T | |
| 8 | g.1771208A= | CA1757666885 | CLN8 | c.154A= (p.Thr52=) c.107A= | |
| 8 | g.1771208A>C | CA369952977 | CLN8 | c.154A>C (p.Thr52Pro) c.107A>C | |
| 8 | g.1771208A>G | CA4599215 | CLN8 | c.154A>G (p.Thr52Ala) c.107A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.1771208A>T | CA369952978 | CLN8 | c.154A>T (p.Thr52Ser) c.107A>T | |
| 8 | g.1771209C>A | CA369952979 | CLN8 | c.155C>A (p.Thr52Asn) c.108C>A | |
| 8 | g.1771209C>G | CA369952980 | CLN8 | c.155C>G (p.Thr52Ser) c.108C>G | |
| 8 | g.1771209C>T | CA369952981 | CLN8 | c.155C>T (p.Thr52Ile) c.108C>T | gnomAD v4 |
| 8 | g.1771210_1771214del | CA2685938947 | CLN8 | c.156_160del (p.Tyr53PhefsTer?) c.109_113del | gnomAD v4 |
| 8 | g.1771210T>A | CA459142962 | CLN8 | c.156T>A (p.Thr52=) c.109T>A | |
| 8 | g.1771210T>C | CA459142963 | CLN8 | c.156T>C (p.Thr52=) c.109T>C | |
| 8 | g.1771210T>G | CA459142964 | CLN8 | c.156T>G (p.Thr52=) c.109T>G | |
| 8 | g.1771211T>A | CA369952983 | CLN8 | c.157T>A (p.Tyr53Asn) c.110T>A | |
| 8 | g.1771211T>C | CA4599216 | CLN8 | c.157T>C (p.Tyr53His) c.110T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.1771211T>G | CA369952982 | CLN8 | c.157T>G (p.Tyr53Asp) c.110T>G | |
| 8 | g.1771211T= | CA1757666889 | CLN8 | c.157T= (p.Tyr53=) c.110T= | |
| 8 | g.1771212A>C | CA369952984 | CLN8 | c.158A>C (p.Tyr53Ser) c.111A>C | |
| 8 | g.1771212A>G | CA369952985 | CLN8 | c.158A>G (p.Tyr53Cys) c.111A>G | |
| 8 | g.1771212A>T | CA369952986 | CLN8 | c.158A>T (p.Tyr53Phe) c.111A>T | |
| 8 | g.1771213C>A | CA4599218 | CLN8 | c.159C>A (p.Tyr53Ter) c.112C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.1771213C= | CA1757666892 | CLN8 | c.159C= (p.Tyr53=) c.112C= | |
| 8 | g.1771213C>G | CA369952987 | CLN8 | c.159C>G (p.Tyr53Ter) c.112C>G | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.1771213C>T | CA4599217 | CLN8 | c.159C>T (p.Tyr53=) c.112C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.1771214del | CA2697549727 | CLN8 | c.160del (p.Arg54ValfsTer?) c.113del | ClinVar |
| 8 | g.1771214C>A | CA369952988 | CLN8 | c.160C>A (p.Arg54Ser) c.113C>A | ClinVar |
| 8 | g.1771214C= | CA1757666900 | CLN8 | c.160C= (p.Arg54=) c.113C= | |
| 8 | g.1771214C>G | CA369952989 | CLN8 | c.160C>G (p.Arg54Gly) c.113C>G | |
| 8 | g.1771214C>T | CA4599219 | CLN8 | c.160C>T (p.Arg54Cys) c.113C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.1771215G>A | CA4599220 | CLN8 | c.161G>A (p.Arg54His) c.114G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.1771215G>C | CA369952990 | CLN8 | c.161G>C (p.Arg54Pro) c.114G>C | |
| 8 | g.1771215G= | CA1757666906 | CLN8 | c.161G= (p.Arg54=) c.114G= | |
| 8 | g.1771215G>T | CA369952991 | CLN8 | c.161G>T (p.Arg54Leu) c.114G>T | dbSNP |
| 8 | g.1771216T>A | CA459142977 | CLN8 | c.162T>A (p.Arg54=) c.115T>A | |
| 8 | g.1771216T>C | CA459142978 | CLN8 | c.162T>C (p.Arg54=) c.115T>C | gnomAD v4 |
| 8 | g.1771216T>G | CA459142979 | CLN8 | c.162T>G (p.Arg54=) c.115T>G | |
| 8 | g.1771217T>A | CA369952994 | CLN8 | c.163T>A (p.Ser55Thr) c.116T>A | |
| 8 | g.1771217T>C | CA369952993 | CLN8 | c.163T>C (p.Ser55Pro) c.116T>C | |
| 8 | g.1771217T>G | CA369952992 | CLN8 | c.163T>G (p.Ser55Ala) c.116T>G | ClinVar dbSNP |
| 8 | g.1771217T= | CA1757666908 | CLN8 | c.163T= (p.Ser55=) c.116T= | |
| 8 | g.1771218C>A | CA369952997 | CLN8 | c.164C>A (p.Ser55Tyr) c.117C>A | gnomAD v4 |
| 8 | g.1771218C= | CA1757666909 | CLN8 | c.164C= (p.Ser55=) c.117C= | |
| 8 | g.1771218C>G | CA369952995 | CLN8 | c.164C>G (p.Ser55Cys) c.117C>G | |
| 8 | g.1771218C>T | CA369952996 | CLN8 | c.164C>T (p.Ser55Phe) c.117C>T | dbSNP gnomAD v2 |
| 8 | g.1771219T>A | CA459142986 | CLN8 | c.165T>A (p.Ser55=) c.118T>A | |
| 8 | g.1771219T>C | CA459142987 | CLN8 | c.165T>C (p.Ser55=) c.118T>C | |
| 8 | g.1771219T>G | CA459142988 | CLN8 | c.165T>G (p.Ser55=) c.118T>G | |
| 8 | g.1771220T>A | CA369952998 | CLN8 | c.166T>A (p.Leu56Met) c.119T>A | |
| 8 | g.1771220T>C | CA459142989 | CLN8 | c.166T>C (p.Leu56=) c.119T>C | gnomAD v4 |
| 8 | g.1771220T>G | CA369952999 | CLN8 | c.166T>G (p.Leu56Val) c.119T>G | |
| 8 | g.1771221T>A | CA369953000 | CLN8 | c.167T>A (p.Leu56Ter) c.120T>A | |
| 8 | g.1771221T>C | CA369953001 | CLN8 | c.167T>C (p.Leu56Ser) c.120T>C | |
| 8 | g.1771221T>G | CA369953002 | CLN8 | c.167T>G (p.Leu56Trp) c.120T>G | |
| 8 | g.1771222G>A | CA459142993 | CLN8 | c.168G>A (p.Leu56=) c.121G>A | |
| 8 | g.1771222G>C | CA369953003 | CLN8 | c.168G>C (p.Leu56Phe) c.121G>C | |
| 8 | g.1771222G>T | CA369953004 | CLN8 | c.168G>T (p.Leu56Phe) c.121G>T | |
| 8 | g.1771223G>A | CA369953005 | CLN8 | c.169G>A (p.Val57Met) c.122G>A | |
| 8 | g.1771223G>C | CA369953006 | CLN8 | c.169G>C (p.Val57Leu) c.122G>C | |
| 8 | g.1771223G>T | CA369953007 | CLN8 | c.169G>T (p.Val57Leu) c.122G>T | |
| 8 | g.1771224T>A | CA369953009 | CLN8 | c.170T>A (p.Val57Glu) c.123T>A | |
| 8 | g.1771224T>C | CA369953010 | CLN8 | c.170T>C (p.Val57Ala) c.123T>C | |
| 8 | g.1771224T>G | CA369953008 | CLN8 | c.170T>G (p.Val57Gly) c.123T>G | |
| 8 | g.1771225G>A | CA459142996 | CLN8 | c.171G>A (p.Val57=) c.124G>A | |
| 8 | g.1771225G>C | CA459142997 | CLN8 | c.171G>C (p.Val57=) c.124G>C | |
| 8 | g.1771225G>T | CA459142999 | CLN8 | c.171G>T (p.Val57=) c.124G>T | |
| 8 | g.1771226G>A | CA369953011 | CLN8 | c.172G>A (p.Ala58Thr) c.125G>A | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.1771226G>C | CA369953012 | CLN8 | c.172G>C (p.Ala58Pro) c.125G>C | gnomAD v4 |
| 8 | g.1771226G= | CA1757666912 | CLN8 | c.172G= (p.Ala58=) c.125G= | |
| 8 | g.1771226G>T | CA369953013 | CLN8 | c.172G>T (p.Ala58Ser) c.125G>T | |
| 8 | g.1771227C>A | CA369953014 | CLN8 | c.173C>A (p.Ala58Asp) c.126C>A | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.1771227C= | CA1757666915 | CLN8 | c.173C= (p.Ala58=) c.126C= | |
| 8 | g.1771227C>G | CA369953015 | CLN8 | c.173C>G (p.Ala58Gly) c.126C>G | |
| 8 | g.1771227C>T | CA369953016 | CLN8 | c.173C>T (p.Ala58Val) c.126C>T | |
| 8 | g.1771228C>A | CA459143003 | CLN8 | c.174C>A (p.Ala58=) c.127C>A | |
| 8 | g.1771228C= | CA1757666918 | CLN8 | c.174C= (p.Ala58=) c.127C= | |
| 8 | g.1771228C>G | CA459143004 | CLN8 | c.174C>G (p.Ala58=) c.127C>G | gnomAD v4 |
| 8 | g.1771228C>T | CA170445676 | CLN8 | c.174C>T (p.Ala58=) c.127C>T | ClinVar dbSNP gnomAD v4 |
| 8 | g.1771229A>C | CA459143006 | CLN8 | c.175A>C (p.Arg59=) c.128A>C | |
| 8 | g.1771229A>G | CA369953017 | CLN8 | c.175A>G (p.Arg59Gly) c.128A>G | |
| 8 | g.1771229A>T | CA369953018 | CLN8 | c.175A>T (p.Arg59Ter) c.128A>T | |
| 8 | g.1771230G>A | CA369953019 | CLN8 | c.176G>A (p.Arg59Lys) c.129G>A | |
| 8 | g.1771230G>C | CA314044 | CLN8 | c.176G>C (p.Arg59Thr) c.129G>C | ClinVar dbSNP gnomAD v4 |
| 8 | g.1771230G= | CA1757666925 | CLN8 | c.176G= (p.Arg59=) c.129G= | |
| 8 | g.1771230G>T | CA369953020 | CLN8 | c.176G>T (p.Arg59Ile) c.129G>T | |
| 8 | g.1771231A>C | CA369953021 | CLN8 | c.177A>C (p.Arg59Ser) c.130A>C | |
| 8 | g.1771231A>G | CA459143010 | CLN8 | c.177A>G (p.Arg59=) c.130A>G | |
| 8 | g.1771231A>T | CA369953022 | CLN8 | c.177A>T (p.Arg59Ser) c.130A>T | |
| 8 | g.1771232G>A | CA369953024 | CLN8 | c.178G>A (p.Glu60Lys) c.131G>A | |
| 8 | g.1771232G>C | CA369953025 | CLN8 | c.178G>C (p.Glu60Gln) c.131G>C | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.1771232G= | CA1757666928 | CLN8 | c.178G= (p.Glu60=) c.131G= | |
| 8 | g.1771232G>T | CA369953023 | CLN8 | c.178G>T (p.Glu60Ter) c.131G>T | |
| 8 | g.1771232_1771235delinsGAGA | CA1757666927 | CLN8 | c.178_181delinsGAGA (p.Glu60=) c.131_134delinsGAGA | |
| 8 | g.1771233A>C | CA369953026 | CLN8 | c.179A>C (p.Glu60Ala) c.132A>C | |
| 8 | g.1771233A>G | CA369953027 | CLN8 | c.179A>G (p.Glu60Gly) c.132A>G | |
| 8 | g.1771233A>T | CA369953028 | CLN8 | c.179A>T (p.Glu60Val) c.132A>T | gnomAD v4 |
| 8 | g.1771235_1771237del | CA264156 | CLN8 | c.181_183del (p.Lys61del) c.134_136del | ClinVar dbSNP |
| 8 | g.1771234G>A | CA459143016 | CLN8 | c.180G>A (p.Glu60=) c.133G>A | ClinVar dbSNP |
| 8 | g.1771234G>C | CA369953029 | CLN8 | c.180G>C (p.Glu60Asp) c.133G>C | |
| 8 | g.1771234G>T | CA369953030 | CLN8 | c.180G>T (p.Glu60Asp) c.133G>T | |
| 8 | g.1771235A>C | CA369953031 | CLN8 | c.181A>C (p.Lys61Gln) c.134A>C | |
| 8 | g.1771235A>G | CA369953032 | CLN8 | c.181A>G (p.Lys61Glu) c.134A>G | |
| 8 | g.1771235A>T | CA369953033 | CLN8 | c.181A>T (p.Lys61Ter) c.134A>T | |
| 8 | g.1771236A>C | CA369953034 | CLN8 | c.182A>C (p.Lys61Thr) c.135A>C | ClinVar |
| 8 | g.1771236A>G | CA369953035 | CLN8 | c.182A>G (p.Lys61Arg) c.135A>G | |
| 8 | g.1771236A>T | CA369953036 | CLN8 | c.182A>T (p.Lys61Met) c.135A>T | |
| 8 | g.1771237G>A | CA459143021 | CLN8 | c.183G>A (p.Lys61=) c.136G>A | |
| 8 | g.1771237G>C | CA369953037 | CLN8 | c.183G>C (p.Lys61Asn) c.136G>C | |
| 8 | g.1771237G>T | CA369953038 | CLN8 | c.183G>T (p.Lys61Asn) c.136G>T | |
| 8 | g.1771238G>A | CA369953041 | CLN8 | c.184G>A (p.Val62Ile) c.137G>A | |
| 8 | g.1771238G>C | CA369953040 | CLN8 | c.184G>C (p.Val62Leu) c.137G>C | |
| 8 | g.1771238G>T | CA369953039 | CLN8 | c.184G>T (p.Val62Phe) c.137G>T | |
| 8 | g.1771239T>A | CA369953042 | CLN8 | c.185T>A (p.Val62Asp) c.138T>A | |
| 8 | g.1771239T>C | CA369953043 | CLN8 | c.185T>C (p.Val62Ala) c.138T>C | |
| 8 | g.1771239T>G | CA369953044 | CLN8 | c.185T>G (p.Val62Gly) c.138T>G | |
| 8 | g.1771240C>A | CA459143025 | CLN8 | c.186C>A (p.Val62=) c.139C>A | |
| 8 | g.1771240C= | CA1757666933 | CLN8 | c.186C= (p.Val62=) c.139C= | |
| 8 | g.1771240C>G | CA459143026 | CLN8 | c.186C>G (p.Val62=) c.139C>G | dbSNP gnomAD v4 |
| 8 | g.1771240C>T | CA16605217 | CLN8 | c.186C>T (p.Val62=) c.139C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.1771241T>A | CA369953045 | CLN8 | c.187T>A (p.Phe63Ile) c.140T>A | |
| 8 | g.1771241T>C | CA4599221 | CLN8 | c.187T>C (p.Phe63Leu) c.140T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.1771241T>G | CA369953046 | CLN8 | c.187T>G (p.Phe63Val) c.140T>G | |
| 8 | g.1771241T= | CA1757666937 | CLN8 | c.187T= (p.Phe63=) c.140T= | |
| 8 | g.1771242T>A | CA369953047 | CLN8 | c.188T>A (p.Phe63Tyr) c.141T>A | |
| 8 | g.1771242T>C | CA369953048 | CLN8 | c.188T>C (p.Phe63Ser) c.141T>C | gnomAD v4 |
| 8 | g.1771242T>G | CA369953049 | CLN8 | c.188T>G (p.Phe63Cys) c.141T>G | |
| 8 | g.1771243C>A | CA369953050 | CLN8 | c.189C>A (p.Phe63Leu) c.142C>A | |
| 8 | g.1771243C>G | CA369953051 | CLN8 | c.189C>G (p.Phe63Leu) c.142C>G | dbSNP gnomAD v4 |
| 8 | g.1771243C>T | CA459143030 | CLN8 | c.189C>T (p.Phe63=) c.142C>T | |
| 8 | g.1771244T>A | CA369953054 | CLN8 | c.190T>A (p.Trp64Arg) c.143T>A | |
| 8 | g.1771244T>C | CA369953053 | CLN8 | c.190T>C (p.Trp64Arg) c.143T>C | |
| 8 | g.1771244T>G | CA369953052 | CLN8 | c.190T>G (p.Trp64Gly) c.143T>G | |
| 8 | g.1771245G>A | CA369953055 | CLN8 | c.191G>A (p.Trp64Ter) c.144G>A | |
| 8 | g.1771245G>C | CA369953056 | CLN8 | c.191G>C (p.Trp64Ser) c.144G>C | |
| 8 | g.1771245G>T | CA369953057 | CLN8 | c.191G>T (p.Trp64Leu) c.144G>T | |
| 8 | g.1771246G>A | CA369953058 | CLN8 | c.192G>A (p.Trp64Ter) c.145G>A | gnomAD v4 |
| 8 | g.1771246G>C | CA369953059 | CLN8 | c.192G>C (p.Trp64Cys) c.145G>C | gnomAD v4 |
| 8 | g.1771246G= | CA1757666941 | CLN8 | c.192G= (p.Trp64=) c.145G= | |
| 8 | g.1771246G>T | CA369953060 | CLN8 | c.192G>T (p.Trp64Cys) c.145G>T | dbSNP |
| 8 | g.1771247G>A | CA369953061 | CLN8 | c.193G>A (p.Asp65Asn) c.146G>A | |
| 8 | g.1771247G>C | CA369953062 | CLN8 | c.193G>C (p.Asp65His) c.146G>C | |
| 8 | g.1771247G>T | CA369953063 | CLN8 | c.193G>T (p.Asp65Tyr) c.146G>T | |
| 8 | g.1771248A>C | CA369953064 | CLN8 | c.194A>C (p.Asp65Ala) c.147A>C | |
| 8 | g.1771248A>G | CA369953065 | CLN8 | c.194A>G (p.Asp65Gly) c.147A>G | |
| 8 | g.1771248A>T | CA369953066 | CLN8 | c.194A>T (p.Asp65Val) c.147A>T | ClinVar |
| 8 | g.1771249C>A | CA369953067 | CLN8 | c.195C>A (p.Asp65Glu) c.148C>A | |
| 8 | g.1771249C>G | CA369953068 | CLN8 | c.195C>G (p.Asp65Glu) c.148C>G | |
| 8 | g.1771249C>T | CA459143037 | CLN8 | c.195C>T (p.Asp65=) c.148C>T | |
| 8 | g.1771250C>A | CA369953069 | CLN8 | c.196C>A (p.Leu66Met) c.149C>A | gnomAD v4 |
| 8 | g.1771250C>G | CA369953070 | CLN8 | c.196C>G (p.Leu66Val) c.149C>G | |
| 8 | g.1771250C>T | CA459143038 | CLN8 | c.196C>T (p.Leu66=) c.149C>T | |
| 8 | g.1771251T>A | CA369953071 | CLN8 | c.197T>A (p.Leu66Gln) c.150T>A | gnomAD v4 |
| 8 | g.1771251T>C | CA369953072 | CLN8 | c.197T>C (p.Leu66Pro) c.150T>C | |
| 8 | g.1771251T>G | CA369953073 | CLN8 | c.197T>G (p.Leu66Arg) c.150T>G | |
| 8 | g.1771252G>A | CA459143040 | CLN8 | c.198G>A (p.Leu66=) c.151G>A | dbSNP gnomAD v4 |
| 8 | g.1771252G>C | CA459143039 | CLN8 | c.198G>C (p.Leu66=) c.151G>C | gnomAD v4 |
| 8 | g.1771252G= | CA1757666942 | CLN8 | c.198G= (p.Leu66=) c.151G= | |
| 8 | g.1771252G>T | CA459143041 | CLN8 | c.198G>T (p.Leu66=) c.151G>T | |
| 8 | g.1771253G>A | CA369953074 | CLN8 | c.199G>A (p.Ala67Thr) c.152G>A | |
| 8 | g.1771253G>C | CA369953075 | CLN8 | c.199G>C (p.Ala67Pro) c.152G>C | |
| 8 | g.1771253G>T | CA369953076 | CLN8 | c.199G>T (p.Ala67Ser) c.152G>T | |
| 8 | g.1771254C>A | CA369953077 | CLN8 | c.200C>A (p.Ala67Glu) c.153C>A | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.1771254C= | CA1757666946 | CLN8 | c.200C= (p.Ala67=) c.153C= | |
| 8 | g.1771254C>G | CA369953078 | CLN8 | c.200C>G (p.Ala67Gly) c.153C>G | |
| 8 | g.1771254C>T | CA241753 | CLN8 | c.200C>T (p.Ala67Val) c.153C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.1771255G>A | CA4599222 | CLN8 | c.201G>A (p.Ala67=) c.154G>A c.1G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.1771255G>C | CA459143047 | CLN8 | c.201G>C (p.Ala67=) c.154G>C c.1G>C | |
| 8 | g.1771255G= | CA1757666952 | CLN8 | c.201G= (p.Ala67=) c.154G= c.1G= | |
| 8 | g.1771255G>T | CA4599223 | CLN8 | c.201G>T (p.Ala67=) c.154G>T c.1G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.1771256G>A | CA369953079 | CLN8 | c.202G>A (p.Ala68Thr) c.155G>A c.2G>A | |
| 8 | g.1771256G>C | CA369953081 | CLN8 | c.202G>C (p.Ala68Pro) c.155G>C c.2G>C | |
| 8 | g.1771256G>T | CA369953080 | CLN8 | c.202G>T (p.Ala68Ser) c.155G>T c.2G>T | dbSNP |
| 8 | g.1771256_1771257del | CA913129266 | CLN8 | c.202_203del (p.Ala68HisfsTer?) c.155_156del c.2_3del | |
| 8 | g.1771256_1771257delinsGC | CA1757666958 | CLN8 | c.202_203delinsGC (p.Ala68=) c.155_156delinsGC c.2_3delinsGC | |
| 8 | g.1771257C>A | CA369953082 | CLN8 | c.203C>A (p.Ala68Asp) c.156C>A c.3C>A | gnomAD v4 |
| 8 | g.1771257C>G | CA369953084 | CLN8 | c.203C>G (p.Ala68Gly) c.156C>G c.3C>G | |
| 8 | g.1771257C>T | CA369953083 | CLN8 | c.203C>T (p.Ala68Val) c.156C>T c.3C>T | gnomAD v4 |
| 8 | g.1771258del | CA658822433 | CLN8 | c.204del (p.Thr69ArgfsTer?) c.157del c.4del | ClinVar dbSNP |
| 8 | g.1771258C>A | CA459143053 | CLN8 | c.204C>A (p.Ala68=) c.157C>A c.4C>A | |
| 8 | g.1771258C= | CA1757666961 | CLN8 | c.204C= (p.Ala68=) c.157C= c.4C= | |
| 8 | g.1771258C>G | CA459143050 | CLN8 | c.204C>G (p.Ala68=) c.157C>G c.4C>G | |
| 8 | g.1771258C>T | CA4599224 | CLN8 | c.204C>T (p.Ala68=) c.157C>T c.4C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.1771259A= | CA1757666964 | CLN8 | c.205A= (p.Thr69=) c.158A= c.5A= | |
| 8 | g.1771259A>C | CA369953086 | CLN8 | c.205A>C (p.Thr69Pro) c.158A>C c.5A>C | |
| 8 | g.1771259A>G | CA369953085 | CLN8 | c.205A>G (p.Thr69Ala) c.158A>G c.5A>G | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.1771259A>T | CA369953087 | CLN8 | c.205A>T (p.Thr69Ser) c.158A>T c.5A>T | |
| 8 | g.1771260C>A | CA369953088 | CLN8 | c.206C>A (p.Thr69Lys) c.159C>A c.6C>A | gnomAD v4 |
| 8 | g.1771260C= | CA1757666970 | CLN8 | c.206C= (p.Thr69=) c.159C= c.6C= | |
| 8 | g.1771260C>G | CA369953089 | CLN8 | c.206C>G (p.Thr69Arg) c.159C>G c.6C>G | |
| 8 | g.1771260C>T | CA4599225 | CLN8 | c.206C>T (p.Thr69Met) c.159C>T c.6C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.1771261G>A | CA4599226 | CLN8 | c.207G>A (p.Thr69=) c.160G>A c.7G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.1771261G>C | CA459143057 | CLN8 | c.207G>C (p.Thr69=) c.160G>C c.7G>C | |
| 8 | g.1771261G= | CA1757666975 | CLN8 | c.207G= (p.Thr69=) c.160G= c.7G= | |
| 8 | g.1771261G>T | CA459143058 | CLN8 | c.207G>T (p.Thr69=) c.160G>T c.7G>T | |
| 8 | g.1771262C>A | CA369953090 | CLN8 | c.208C>A (p.Arg70Ser) c.161C>A c.8C>A | gnomAD v4 |
| 8 | g.1771262C= | CA1757666977 | CLN8 | c.208C= (p.Arg70=) c.161C= c.8C= | |
| 8 | g.1771262C>G | CA369953091 | CLN8 | c.208C>G (p.Arg70Gly) c.161C>G c.8C>G | |
| 8 | g.1771262C>T | CA056214 | CLN8 | c.208C>T (p.Arg70Cys) c.161C>T c.8C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.[1771262C>T;1780498C>G] | CA056360 | CLN8 | c.[208C>T;792C>G] (p.[Arg70Cys;Asn264Lys]) c.[208C>T;*203C>G] ([p.Arg70Cys;n.*203C>G]) c.[161C>T;496+8901C>G] c.[208C>T;543+8901C>G] (p.Arg70Cys) c.[8C>T;343+8901C>G] | ClinVar |
| 8 | g.1771263G>A | CA264159 | CLN8 | c.209G>A (p.Arg70His) c.162G>A c.9G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.1771263G>C | CA369953092 | CLN8 | c.209G>C (p.Arg70Pro) c.162G>C c.9G>C | ClinVar dbSNP |
| 8 | g.1771263G= | CA1757666982 | CLN8 | c.209G= (p.Arg70=) c.162G= c.9G= | |
| 8 | g.1771263G>T | CA369953093 | CLN8 | c.209G>T (p.Arg70Leu) c.162G>T c.9G>T | gnomAD v4 |
| 8 | g.1771264T>A | CA459143061 | CLN8 | c.210T>A (p.Arg70=) c.163T>A c.10T>A | |
| 8 | g.1771264T>C | CA459143062 | CLN8 | c.210T>C (p.Arg70=) c.163T>C c.10T>C | ClinVar dbSNP |
| 8 | g.1771264T>G | CA459143063 | CLN8 | c.210T>G (p.Arg70=) c.163T>G c.10T>G | |
| 8 | g.1771265G>A | CA369953094 | CLN8 | c.211G>A (p.Ala71Thr) c.164G>A c.11G>A | |
| 8 | g.1771265G>C | CA369953095 | CLN8 | c.211G>C (p.Ala71Pro) c.164G>C c.11G>C | |
| 8 | g.1771265G= | CA1757666988 | CLN8 | c.211G= (p.Ala71=) c.164G= c.11G= | |
| 8 | g.1771265G>T | CA4599227 | CLN8 | c.211G>T (p.Ala71Ser) c.164G>T c.11G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.1771266C>A | CA369953096 | CLN8 | c.212C>A (p.Ala71Glu) c.165C>A c.12C>A | |
| 8 | g.1771266C= | CA1757666992 | CLN8 | c.212C= (p.Ala71=) c.165C= c.12C= | |
| 8 | g.1771266C>G | CA369953097 | CLN8 | c.212C>G (p.Ala71Gly) c.165C>G c.12C>G | |
| 8 | g.1771266C>T | CA351273 | CLN8 | c.212C>T (p.Ala71Val) c.165C>T c.12C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |