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.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] | |
| 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 | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.1771267A= | CA1757666996 | CLN8 | c.213A= (p.Ala71=) c.166A= c.13A= | |
| 8 | g.1771267A>C | CA4599228 | CLN8 | c.213A>C (p.Ala71=) c.166A>C c.13A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.1771267A>G | CA459143067 | CLN8 | c.213A>G (p.Ala71=) c.166A>G c.13A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.1771267A>T | CA459143068 | CLN8 | c.213A>T (p.Ala71=) c.166A>T c.13A>T | gnomAD v4 |
| 8 | g.1771268G>A | CA369953098 | CLN8 | c.214G>A (p.Val72Ile) c.167G>A c.14G>A | |
| 8 | g.1771268G>C | CA369953099 | CLN8 | c.214G>C (p.Val72Leu) c.167G>C c.14G>C | gnomAD v4 |
| 8 | g.1771268G>T | CA369953100 | CLN8 | c.214G>T (p.Val72Phe) c.167G>T c.14G>T | |
| 8 | g.1771269T>A | CA369953101 | CLN8 | c.215T>A (p.Val72Asp) c.168T>A c.15T>A | |
| 8 | g.1771269T>C | CA369953102 | CLN8 | c.215T>C (p.Val72Ala) c.168T>C c.15T>C | |
| 8 | g.1771269T>G | CA369953103 | CLN8 | c.215T>G (p.Val72Gly) c.168T>G c.15T>G | |
| 8 | g.1771270C>A | CA459143069 | CLN8 | c.216C>A (p.Val72=) c.169C>A c.16C>A | |
| 8 | g.1771270C>G | CA459143071 | CLN8 | c.216C>G (p.Val72=) c.169C>G c.16C>G | ClinVar gnomAD v4 |
| 8 | g.1771270C>T | CA459143074 | CLN8 | c.216C>T (p.Val72=) c.169C>T c.16C>T | |
| 8 | g.1771271T>A | CA369953104 | CLN8 | c.217T>A (p.Phe73Ile) c.170T>A c.17T>A | |
| 8 | g.1771271T>C | CA369953105 | CLN8 | c.217T>C (p.Phe73Leu) c.170T>C c.17T>C | |
| 8 | g.1771271T>G | CA369953106 | CLN8 | c.217T>G (p.Phe73Val) c.170T>G c.17T>G | |
| 8 | g.1771272_1771273del | CA2685938948 | CLN8 | c.218_219del (p.Phe73TrpfsTer?) c.171_172del c.18_19del | gnomAD v4 |
| 8 | g.1771272T>A | CA369953109 | CLN8 | c.218T>A (p.Phe73Tyr) c.171T>A c.18T>A | |
| 8 | g.1771272T>C | CA369953108 | CLN8 | c.218T>C (p.Phe73Ser) c.171T>C c.18T>C | |
| 8 | g.1771272T>G | CA369953107 | CLN8 | c.218T>G (p.Phe73Cys) c.171T>G c.18T>G | |
| 8 | g.1771273T>A | CA369953110 | CLN8 | c.219T>A (p.Phe73Leu) c.172T>A c.19T>A | |
| 8 | g.1771273T>C | CA459143076 | CLN8 | c.219T>C (p.Phe73=) c.172T>C c.19T>C | |
| 8 | g.1771273T>G | CA369953111 | CLN8 | c.219T>G (p.Phe73Leu) c.172T>G c.19T>G | |
| 8 | g.1771274G>A | CA369953112 | CLN8 | c.220G>A (p.Gly74Ser) c.173G>A c.20G>A | |
| 8 | g.1771274G>C | CA369953113 | CLN8 | c.220G>C (p.Gly74Arg) c.173G>C c.20G>C | |
| 8 | g.1771274G>T | CA369953114 | CLN8 | c.220G>T (p.Gly74Cys) c.173G>T c.20G>T | |
| 8 | g.1771275G>A | CA369953117 | CLN8 | c.221G>A (p.Gly74Asp) c.174G>A c.21G>A | |
| 8 | g.1771275G>C | CA369953116 | CLN8 | c.221G>C (p.Gly74Ala) c.174G>C c.21G>C | |
| 8 | g.1771275G>T | CA369953115 | CLN8 | c.221G>T (p.Gly74Val) c.174G>T c.21G>T | |
| 8 | g.1771276T>A | CA459143078 | CLN8 | c.222T>A (p.Gly74=) c.175T>A c.22T>A | |
| 8 | g.1771276T>C | CA170445694 | CLN8 | c.222T>C (p.Gly74=) c.175T>C c.22T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.1771276T>G | CA459143082 | CLN8 | c.222T>G (p.Gly74=) c.175T>G c.22T>G | gnomAD v4 |
| 8 | g.1771276T= | CA1757666998 | CLN8 | c.222T= (p.Gly74=) c.175T= c.22T= | |
| 8 | g.1771277G>A | CA369953118 | CLN8 | c.223G>A (p.Val75Ile) c.176G>A c.23G>A | gnomAD v4 |
| 8 | g.1771277G>C | CA369953119 | CLN8 | c.223G>C (p.Val75Leu) c.176G>C c.23G>C | |
| 8 | g.1771277G>T | CA369953120 | CLN8 | c.223G>T (p.Val75Phe) c.176G>T c.23G>T | |
| 8 | g.1771278T>A | CA369953121 | CLN8 | c.224T>A (p.Val75Asp) c.177T>A c.24T>A | |
| 8 | g.1771278T>C | CA369953122 | CLN8 | c.224T>C (p.Val75Ala) c.177T>C c.24T>C | |
| 8 | g.1771278T>G | CA369953123 | CLN8 | c.224T>G (p.Val75Gly) c.177T>G c.24T>G | |
| 8 | g.1771279T>A | CA459143086 | CLN8 | c.225T>A (p.Val75=) c.178T>A c.25T>A | |
| 8 | g.1771279T>C | CA459143087 | CLN8 | c.225T>C (p.Val75=) c.178T>C c.25T>C | |
| 8 | g.1771279T>G | CA459143089 | CLN8 | c.225T>G (p.Val75=) c.178T>G c.25T>G | |
| 8 | g.1771280C>A | CA369953124 | CLN8 | c.226C>A (p.Gln76Lys) c.179C>A c.26C>A | |
| 8 | g.1771280C= | CA1757667001 | CLN8 | c.226C= (p.Gln76=) c.179C= c.26C= | |
| 8 | g.1771280C>G | CA369953126 | CLN8 | c.226C>G (p.Gln76Glu) c.179C>G c.26C>G | |
| 8 | g.1771280C>T | CA369953125 | CLN8 | c.226C>T (p.Gln76Ter) c.179C>T c.26C>T | ClinVar dbSNP gnomAD v4 |
| 8 | g.1771281A= | CA1757667004 | CLN8 | c.227A= (p.Gln76=) c.180A= c.27A= | |
| 8 | g.1771281A>C | CA369953127 | CLN8 | c.227A>C (p.Gln76Pro) c.180A>C c.27A>C | ClinVar gnomAD v4 |
| 8 | g.1771281A>G | CA264161 | CLN8 | c.227A>G (p.Gln76Arg) c.180A>G c.27A>G | ClinVar dbSNP |
| 8 | g.1771281A>T | CA369953128 | CLN8 | c.227A>T (p.Gln76Leu) c.180A>T c.27A>T | |
| 8 | g.1771282G>A | CA459143091 | CLN8 | c.228G>A (p.Gln76=) c.181G>A c.28G>A | ClinVar dbSNP gnomAD v4 |
| 8 | g.1771282G>C | CA369953129 | CLN8 | c.228G>C (p.Gln76His) c.181G>C c.28G>C | dbSNP |
| 8 | g.1771282G= | CA1757667006 | CLN8 | c.228G= (p.Gln76=) c.181G= c.28G= | |
| 8 | g.1771282G>T | CA369953130 | CLN8 | c.228G>T (p.Gln76His) c.181G>T c.28G>T | |
| 8 | g.1771283A= | CA1757667010 | CLN8 | c.229A= (p.Ser77=) c.182A= c.29A= | |
| 8 | g.1771283A>C | CA369953131 | CLN8 | c.229A>C (p.Ser77Arg) c.182A>C c.29A>C | |
| 8 | g.1771283A>G | CA4599229 | CLN8 | c.229A>G (p.Ser77Gly) c.182A>G c.29A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.1771283A>T | CA369953132 | CLN8 | c.229A>T (p.Ser77Cys) c.182A>T c.29A>T | |
| 8 | g.1771284G>A | CA369953133 | CLN8 | c.230G>A (p.Ser77Asn) c.183G>A c.30G>A | dbSNP gnomAD v4 |
| 8 | g.1771284G>C | CA369953134 | CLN8 | c.230G>C (p.Ser77Thr) c.183G>C c.30G>C | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.1771284G= | CA1757667016 | CLN8 | c.230G= (p.Ser77=) c.183G= c.30G= | |
| 8 | g.1771284G>T | CA369953135 | CLN8 | c.230G>T (p.Ser77Ile) c.183G>T c.30G>T | |
| 8 | g.1771285C>A | CA369953136 | CLN8 | c.231C>A (p.Ser77Arg) c.184C>A c.31C>A | |
| 8 | g.1771285C= | CA1757667018 | CLN8 | c.231C= (p.Ser77=) c.184C= c.31C= | |
| 8 | g.1771285C>G | CA369953137 | CLN8 | c.231C>G (p.Ser77Arg) c.184C>G c.31C>G | |
| 8 | g.1771285C>T | CA459143093 | CLN8 | c.231C>T (p.Ser77=) c.184C>T c.31C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.1771286A>C | CA369953138 | CLN8 | c.232A>C (p.Thr78Pro) c.185A>C c.32A>C c.232A>C | |
| 8 | g.1771286A>G | CA369953140 | CLN8 | c.232A>G (p.Thr78Ala) c.185A>G c.32A>G c.232A>G | |
| 8 | g.1771286A>T | CA369953139 | CLN8 | c.232A>T (p.Thr78Ser) c.185A>T c.32A>T c.232A>T | |
| 8 | g.1771287C>A | CA369953141 | CLN8 | c.233C>A (p.Thr78Lys) c.186C>A c.33C>A | |
| 8 | g.1771287C>G | CA369953142 | CLN8 | c.233C>G (p.Thr78Arg) c.186C>G c.33C>G | |
| 8 | g.1771287C>T | CA369953143 | CLN8 | c.233C>T (p.Thr78Ile) c.186C>T c.33C>T | gnomAD v4 |
| 8 | g.1771288A= | CA1757667021 | CLN8 | c.234A= (p.Thr78=) c.187A= c.34A= | |
| 8 | g.1771288A>C | CA459143094 | CLN8 | c.234A>C (p.Thr78=) c.187A>C c.34A>C | |
| 8 | g.1771288A>G | CA459143095 | CLN8 | c.234A>G (p.Thr78=) c.187A>G c.34A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.1771288A>T | CA459143096 | CLN8 | c.234A>T (p.Thr78=) c.187A>T c.34A>T | |
| 8 | g.1771289G>A | CA369953144 | CLN8 | c.235G>A (p.Ala79Thr) c.188G>A c.35G>A | |
| 8 | g.1771289G>C | CA369953145 | CLN8 | c.235G>C (p.Ala79Pro) c.188G>C c.35G>C | |
| 8 | g.1771289G>T | CA369953146 | CLN8 | c.235G>T (p.Ala79Ser) c.188G>T c.35G>T | |
| 8 | g.1771290C>A | CA369953147 | CLN8 | c.236C>A (p.Ala79Asp) c.189C>A c.36C>A | |
| 8 | g.1771290C= | CA1757667025 | CLN8 | c.236C= (p.Ala79=) c.189C= c.36C= | |
| 8 | g.1771290C>G | CA369953148 | CLN8 | c.236C>G (p.Ala79Gly) c.189C>G c.36C>G | |
| 8 | g.1771290C>T | CA369953149 | CLN8 | c.236C>T (p.Ala79Val) c.189C>T c.36C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.1771291C>A | CA459143098 | CLN8 | c.237C>A (p.Ala79=) c.190C>A c.37C>A | |
| 8 | g.1771291C= | CA1757667028 | CLN8 | c.237C= (p.Ala79=) c.190C= c.37C= | |
| 8 | g.1771291C>G | CA459143099 | CLN8 | c.237C>G (p.Ala79=) c.190C>G c.37C>G | |
| 8 | g.1771291C>T | CA459143100 | CLN8 | c.237C>T (p.Ala79=) c.190C>T c.37C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.1771292G>A | CA170445699 | CLN8 | c.238G>A (p.Ala80Thr) c.191G>A c.38G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.1771292G>C | CA369953150 | CLN8 | c.238G>C (p.Ala80Pro) c.191G>C c.38G>C | |
| 8 | g.1771292G= | CA1757667031 | CLN8 | c.238G= (p.Ala80=) c.191G= c.38G= | |
| 8 | g.1771292G>T | CA369953151 | CLN8 | c.238G>T (p.Ala80Ser) c.191G>T c.38G>T | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 8 | g.1771293C>A | CA369953154 | CLN8 | c.239C>A (p.Ala80Glu) c.192C>A c.39C>A | |
| 8 | g.1771293C>G | CA369953152 | CLN8 | c.239C>G (p.Ala80Gly) c.192C>G c.39C>G | |
| 8 | g.1771293C>T | CA369953153 | CLN8 | c.239C>T (p.Ala80Val) c.192C>T c.39C>T | gnomAD v4 |
| 8 | g.1771294A>C | CA459143101 | CLN8 | c.240A>C (p.Ala80=) c.193A>C c.40A>C | |
| 8 | g.1771294A>G | CA459143102 | CLN8 | c.240A>G (p.Ala80=) c.193A>G c.40A>G | |
| 8 | g.1771294A>T | CA459143103 | CLN8 | c.240A>T (p.Ala80=) c.193A>T c.40A>T | |
| 8 | g.1771295G>A | CA369953155 | CLN8 | c.241G>A (p.Gly81Ser) c.194G>A c.41G>A | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.1771295G>C | CA369953156 | CLN8 | c.241G>C (p.Gly81Arg) c.194G>C c.41G>C | |
| 8 | g.1771295G= | CA1757667035 | CLN8 | c.241G= (p.Gly81=) c.194G= c.41G= | |
| 8 | g.1771295G>T | CA369953157 | CLN8 | c.241G>T (p.Gly81Cys) c.194G>T c.41G>T | |
| 8 | g.1771296G>A | CA369953158 | CLN8 | c.242G>A (p.Gly81Asp) c.195G>A c.42G>A | |
| 8 | g.1771296G>C | CA369953159 | CLN8 | c.242G>C (p.Gly81Ala) c.195G>C c.42G>C | dbSNP gnomAD v4 |
| 8 | g.1771296G= | CA1757667037 | CLN8 | c.242G= (p.Gly81=) c.195G= c.42G= | |
| 8 | g.1771296G>T | CA369953160 | CLN8 | c.242G>T (p.Gly81Val) c.195G>T c.42G>T | |
| 8 | g.1771297C>A | CA459143106 | CLN8 | c.243C>A (p.Gly81=) c.196C>A c.43C>A | |
| 8 | g.1771297C>G | CA459143107 | CLN8 | c.243C>G (p.Gly81=) c.196C>G c.43C>G | |
| 8 | g.1771297C>T | CA459143108 | CLN8 | c.243C>T (p.Gly81=) c.196C>T c.43C>T | |
| 8 | g.1771298C>A | CA369953161 | CLN8 | c.244C>A (p.Leu82Met) c.197C>A c.44C>A | |
| 8 | g.1771298C>G | CA369953162 | CLN8 | c.244C>G (p.Leu82Val) c.197C>G c.44C>G | |
| 8 | g.1771298C>T | CA459143109 | CLN8 | c.244C>T (p.Leu82=) c.197C>T c.44C>T | ClinVar |
| 8 | g.1771299T>A | CA369953163 | CLN8 | c.245T>A (p.Leu82Gln) c.198T>A c.45T>A | |
| 8 | g.1771299T>C | CA369953164 | CLN8 | c.245T>C (p.Leu82Pro) c.198T>C c.45T>C | |
| 8 | g.1771299T>G | CA369953165 | CLN8 | c.245T>G (p.Leu82Arg) c.198T>G c.45T>G | |
| 8 | g.1771300G>A | CA290159 | CLN8 | c.246G>A (p.Leu82=) c.199G>A c.46G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.1771300G>C | CA459143110 | CLN8 | c.246G>C (p.Leu82=) c.199G>C c.46G>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.1771300G= | CA1757667042 | CLN8 | c.246G= (p.Leu82=) c.199G= c.46G= | |
| 8 | g.1771300G>T | CA459143111 | CLN8 | c.246G>T (p.Leu82=) c.199G>T c.46G>T | ClinVar |
| 8 | g.1771301T>A | CA369953168 | CLN8 | c.247T>A (p.Trp83Arg) c.200T>A c.47T>A | |
| 8 | g.1771301T>C | CA369953166 | CLN8 | c.247T>C (p.Trp83Arg) c.200T>C c.47T>C | |
| 8 | g.1771301T>G | CA369953167 | CLN8 | c.247T>G (p.Trp83Gly) c.200T>G c.47T>G | |
| 8 | g.1771302G>A | CA369953169 | CLN8 | c.248G>A (p.Trp83Ter) c.201G>A c.48G>A | |
| 8 | g.1771302G>C | CA369953170 | CLN8 | c.248G>C (p.Trp83Ser) c.201G>C c.48G>C | |
| 8 | g.1771302G= | CA1757667047 | CLN8 | c.248G= (p.Trp83=) c.201G= c.48G= | |
| 8 | g.1771302G>T | CA4599230 | CLN8 | c.248G>T (p.Trp83Leu) c.201G>T c.48G>T | dbSNP ExAC gnomAD v2 |
| 8 | g.1771303G>A | CA369953171 | CLN8 | c.249G>A (p.Trp83Ter) c.202G>A c.49G>A | |
| 8 | g.1771303G>C | CA369953172 | CLN8 | c.249G>C (p.Trp83Cys) c.202G>C c.49G>C | |
| 8 | g.1771303G>T | CA369953173 | CLN8 | c.249G>T (p.Trp83Cys) c.202G>T c.49G>T | |
| 8 | g.1771303_1771326delinsGGCTCTGCTGGGGGACCCTGTGCT | CA1757667050 | CLN8 | c.249_272delinsGGCTCTGCTGGGGGACCCTGTGCT (p.Trp83=) c.202_225delinsGGCTCTGCTGGGGGACCCTGTGCT c.49_72delinsGGCTCTGCTGGGGGACCCTGTGCT | |
| 8 | g.1771304G>A | CA369953174 | CLN8 | c.250G>A (p.Ala84Thr) c.203G>A c.50G>A | |
| 8 | g.1771304G>C | CA369953175 | CLN8 | c.250G>C (p.Ala84Pro) c.203G>C c.50G>C | |
| 8 | g.1771304G>T | CA369953176 | CLN8 | c.250G>T (p.Ala84Ser) c.203G>T c.50G>T | gnomAD v4 |
| 8 | g.1771306_1771328del | CA1757667052 | CLN8 | c.252_274del (p.Leu85CysfsTer25) c.205_227del c.52_74del | dbSNP |
| 8 | g.1771305C>A | CA369953177 | CLN8 | c.251C>A (p.Ala84Asp) c.204C>A c.51C>A | |
| 8 | g.1771305C>G | CA369953178 | CLN8 | c.251C>G (p.Ala84Gly) c.204C>G c.51C>G | |
| 8 | g.1771305C>T | CA369953179 | CLN8 | c.251C>T (p.Ala84Val) c.204C>T c.51C>T | COSMIC COSMIC |
| 8 | g.1771306T>A | CA459143115 | CLN8 | c.252T>A (p.Ala84=) c.205T>A c.52T>A | |
| 8 | g.1771306T>C | CA459143116 | CLN8 | c.252T>C (p.Ala84=) c.205T>C c.52T>C | |
| 8 | g.1771306T>G | CA459143117 | CLN8 | c.252T>G (p.Ala84=) c.205T>G c.52T>G | |
| 8 | g.1771307C>A | CA369953180 | CLN8 | c.253C>A (p.Leu85Met) c.206C>A c.53C>A | |
| 8 | g.1771307C= | CA1757667055 | CLN8 | c.253C= (p.Leu85=) c.206C= c.53C= | |
| 8 | g.1771307C>G | CA369953181 | CLN8 | c.253C>G (p.Leu85Val) c.206C>G c.53C>G | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.1771307C>T | CA459143121 | CLN8 | c.253C>T (p.Leu85=) c.206C>T c.53C>T | |
| 8 | g.1771308T>A | CA369953182 | CLN8 | c.254T>A (p.Leu85Gln) c.207T>A c.54T>A | |
| 8 | g.1771308T>C | CA4599231 | CLN8 | c.254T>C (p.Leu85Pro) c.207T>C c.54T>C | dbSNP ExAC gnomAD v2 |
| 8 | g.1771308T>G | CA369953183 | CLN8 | c.254T>G (p.Leu85Arg) c.207T>G c.54T>G | |
| 8 | g.1771308T= | CA1757667058 | CLN8 | c.254T= (p.Leu85=) c.207T= c.54T= | |
| 8 | g.1771309G>A | CA459143122 | CLN8 | c.255G>A (p.Leu85=) c.208G>A c.55G>A | gnomAD v4 |
| 8 | g.1771309G>C | CA459143123 | CLN8 | c.255G>C (p.Leu85=) c.208G>C c.55G>C | gnomAD v4 |
| 8 | g.1771309G>T | CA459143124 | CLN8 | c.255G>T (p.Leu85=) c.208G>T c.55G>T | |
| 8 | g.1771310C>A | CA369953184 | CLN8 | c.256C>A (p.Leu86Met) c.209C>A c.56C>A | |
| 8 | g.1771310C= | CA1757667061 | CLN8 | c.256C= (p.Leu86=) c.209C= c.56C= | |
| 8 | g.1771310C>G | CA369953185 | CLN8 | c.256C>G (p.Leu86Val) c.209C>G c.56C>G | |
| 8 | g.1771310C>T | CA4599232 | CLN8 | c.256C>T (p.Leu86=) c.209C>T c.56C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.1771311T>A | CA369953186 | CLN8 | c.257T>A (p.Leu86Gln) c.210T>A c.57T>A | |
| 8 | g.1771311T>C | CA369953187 | CLN8 | c.257T>C (p.Leu86Pro) c.210T>C c.57T>C | |
| 8 | g.1771311T>G | CA369953188 | CLN8 | c.257T>G (p.Leu86Arg) c.210T>G c.57T>G | |
| 8 | g.1771312G>A | CA459143126 | CLN8 | c.258G>A (p.Leu86=) c.211G>A c.58G>A | ClinVar |
| 8 | g.1771312G>C | CA459143127 | CLN8 | c.258G>C (p.Leu86=) c.211G>C c.58G>C | |
| 8 | g.1771312G>T | CA459143125 | CLN8 | c.258G>T (p.Leu86=) c.211G>T c.58G>T | |
| 8 | g.1771316del | CA2685938949 | CLN8 | c.262del (p.Asp88ThrfsTer?) c.215del c.62del | gnomAD v4 |
| 8 | g.1771313G>A | CA369953189 | CLN8 | c.259G>A (p.Gly87Arg) c.212G>A c.59G>A | |
| 8 | g.1771313G>C | CA369953190 | CLN8 | c.259G>C (p.Gly87Arg) c.212G>C c.59G>C | dbSNP |
| 8 | g.1771313G= | CA1757667064 | CLN8 | c.259G= (p.Gly87=) c.212G= c.59G= | |
| 8 | g.1771313G>T | CA369953191 | CLN8 | c.259G>T (p.Gly87Trp) c.212G>T c.59G>T | |
| 8 | g.1771314G>A | CA369953194 | CLN8 | c.260G>A (p.Gly87Glu) c.213G>A c.60G>A | |
| 8 | g.1771314G>C | CA369953193 | CLN8 | c.260G>C (p.Gly87Ala) c.213G>C c.60G>C | |
| 8 | g.1771314G>T | CA369953192 | CLN8 | c.260G>T (p.Gly87Val) c.213G>T c.60G>T | gnomAD v4 |
| 8 | g.1771315G>A | CA459143130 | CLN8 | c.261G>A (p.Gly87=) c.214G>A c.61G>A | ClinVar |
| 8 | g.1771315G>C | CA459143131 | CLN8 | c.261G>C (p.Gly87=) c.214G>C c.61G>C | |
| 8 | g.1771315G>T | CA459143132 | CLN8 | c.261G>T (p.Gly87=) c.214G>T c.61G>T | |
| 8 | g.1771316G>A | CA369953196 | CLN8 | c.262G>A (p.Asp88Asn) c.215G>A c.62G>A | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.1771316G>C | CA369953195 | CLN8 | c.262G>C (p.Asp88His) c.215G>C c.62G>C | |
| 8 | g.1771316G= | CA1757667067 | CLN8 | c.262G= (p.Asp88=) c.215G= c.62G= | |
| 8 | g.1771316G>T | CA4599233 | CLN8 | c.262G>T (p.Asp88Tyr) c.215G>T c.62G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.1771316_1771317delinsGA | CA1757667069 | CLN8 | c.262_263delinsGA (p.Asp88=) c.215_216delinsGA c.62_63delinsGA | |
| 8 | g.1771317del | CA16041180 | CLN8 | c.263del (p.Asp88AlafsTer?) c.216del c.63del | ClinVar dbSNP |
| 8 | g.1771317A>C | CA369953197 | CLN8 | c.263A>C (p.Asp88Ala) c.216A>C c.63A>C | |
| 8 | g.1771317A>G | CA369953198 | CLN8 | c.263A>G (p.Asp88Gly) c.216A>G c.63A>G | |
| 8 | g.1771317A>T | CA369953199 | CLN8 | c.263A>T (p.Asp88Val) c.216A>T c.63A>T | |
| 8 | g.1771318C>A | CA369953200 | CLN8 | c.264C>A (p.Asp88Glu) c.217C>A c.64C>A | gnomAD v4 |
| 8 | g.1771318C= | CA1757667076 | CLN8 | c.264C= (p.Asp88=) c.217C= c.64C= | |
| 8 | g.1771318C>G | CA369953201 | CLN8 | c.264C>G (p.Asp88Glu) c.217C>G c.64C>G | |
| 8 | g.1771318C>T | CA459143137 | CLN8 | c.264C>T (p.Asp88=) c.217C>T c.64C>T | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.1771319C>A | CA369953202 | CLN8 | c.265C>A (p.Pro89Thr) c.218C>A c.65C>A | ClinVar gnomAD v4 |
| 8 | g.1771319C= | CA1757667079 | CLN8 | c.265C= (p.Pro89=) c.218C= c.65C= | |
| 8 | g.1771319C>G | CA369953204 | CLN8 | c.265C>G (p.Pro89Ala) c.218C>G c.65C>G | ClinVar dbSNP gnomAD v4 |
| 8 | g.1771319C>T | CA369953203 | CLN8 | c.265C>T (p.Pro89Ser) c.218C>T c.65C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.1771320C>A | CA369953205 | CLN8 | c.266C>A (p.Pro89His) c.219C>A c.66C>A | |
| 8 | g.1771320C= | CA1757667084 | CLN8 | c.266C= (p.Pro89=) c.219C= c.66C= | |
| 8 | g.1771320C>G | CA170445708 | CLN8 | c.266C>G (p.Pro89Arg) c.219C>G c.66C>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.1771320C>T | CA369953206 | CLN8 | c.266C>T (p.Pro89Leu) c.219C>T c.66C>T | |
| 8 | g.1771321T>A | CA459143139 | CLN8 | c.267T>A (p.Pro89=) c.220T>A c.67T>A | |
| 8 | g.1771321T>C | CA4599234 | CLN8 | c.267T>C (p.Pro89=) c.220T>C c.67T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.1771321T>G | CA459143140 | CLN8 | c.267T>G (p.Pro89=) c.220T>G c.67T>G | |
| 8 | g.1771321T= | CA1757667087 | CLN8 | c.267T= (p.Pro89=) c.220T= c.67T= | |
| 8 | g.1771322G>A | CA369953208 | CLN8 | c.268G>A (p.Val90Met) c.221G>A c.68G>A | gnomAD v4 |
| 8 | g.1771322G>C | CA170445711 | CLN8 | c.268G>C (p.Val90Leu) c.221G>C c.68G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.1771322G= | CA1757667091 | CLN8 | c.268G= (p.Val90=) c.221G= c.68G= | |
| 8 | g.1771322G>T | CA369953207 | CLN8 | c.268G>T (p.Val90Leu) c.221G>T c.68G>T | ClinVar gnomAD v4 |
| 8 | g.1771323T>A | CA369953209 | CLN8 | c.269T>A (p.Val90Glu) c.222T>A c.69T>A | |
| 8 | g.1771323T>C | CA369953210 | CLN8 | c.269T>C (p.Val90Ala) c.222T>C c.69T>C | |
| 8 | g.1771323T>G | CA369953211 | CLN8 | c.269T>G (p.Val90Gly) c.222T>G c.69T>G | |
| 8 | g.1771324G>A | CA170445713 | CLN8 | c.270G>A (p.Val90=) c.223G>A c.70G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.1771324G>C | CA459143160 | CLN8 | c.270G>C (p.Val90=) c.223G>C c.70G>C | |
| 8 | g.1771324G= | CA1757667095 | CLN8 | c.270G= (p.Val90=) c.223G= c.70G= | |
| 8 | g.1771324G>T | CA459143161 | CLN8 | c.270G>T (p.Val90=) c.223G>T c.70G>T | gnomAD v4 |
| 8 | g.1771325C>A | CA369953212 | CLN8 | c.271C>A (p.Leu91Met) c.224C>A c.71C>A | |
| 8 | g.1771325C>G | CA369953213 | CLN8 | c.271C>G (p.Leu91Val) c.224C>G c.71C>G | |
| 8 | g.1771325C>T | CA459143162 | CLN8 | c.271C>T (p.Leu91=) c.224C>T c.71C>T | |
| 8 | g.1771326T>A | CA369953214 | CLN8 | c.272T>A (p.Leu91Gln) c.225T>A c.72T>A | |
| 8 | g.1771326T>C | CA369953215 | CLN8 | c.272T>C (p.Leu91Pro) c.225T>C c.72T>C | |
| 8 | g.1771326T>G | CA369953216 | CLN8 | c.272T>G (p.Leu91Arg) c.225T>G c.72T>G | |
| 8 | g.1771327G>A | CA10582575 | CLN8 | c.273G>A (p.Leu91=) c.226G>A c.73G>A | ClinVar dbSNP gnomAD v4 |
| 8 | g.1771327G>C | CA459143163 | CLN8 | c.273G>C (p.Leu91=) c.226G>C c.73G>C | |
| 8 | g.1771327G= | CA1757667102 | CLN8 | c.273G= (p.Leu91=) c.226G= c.73G= | |
| 8 | g.1771327G>T | CA459143164 | CLN8 | c.273G>T (p.Leu91=) c.226G>T c.73G>T | ClinVar dbSNP gnomAD v4 |
| 8 | g.1771328C>A | CA369953217 | CLN8 | c.274C>A (p.His92Asn) c.227C>A c.74C>A | |
| 8 | g.1771328C= | CA1757667107 | CLN8 | c.274C= (p.His92=) c.227C= c.74C= | |
| 8 | g.1771328C>G | CA369953218 | CLN8 | c.274C>G (p.His92Asp) c.227C>G c.74C>G | ClinVar dbSNP gnomAD v4 |
| 8 | g.1771328C>T | CA288746 | CLN8 | c.274C>T (p.His92Tyr) c.227C>T c.74C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |