| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.1771303_1771326delinsGGCTCTGCTGGGGGACCCTGTGCT | CA1757667050 | CLN8 | c.249_272delinsGGCTCTGCTGGGGGACCCTGTGCT (p.Trp83=) c.202_225delinsGGCTCTGCTGGGGGACCCTGTGCT c.49_72delinsGGCTCTGCTGGGGGACCCTGTGCT | |
| 8 | g.1771306_1771328del | CA1757667052 | CLN8 | c.252_274del (p.Leu85CysfsTer25) c.205_227del c.52_74del | dbSNP |
| 8 | g.1771316del | CA2685938949 | CLN8 | c.262del (p.Asp88ThrfsTer?) c.215del c.62del | 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 |
| 8 | g.1771329A>C | CA369953219 | CLN8 | c.275A>C (p.His92Pro) c.228A>C c.75A>C | |
| 8 | g.1771329A>G | CA369953221 | CLN8 | c.275A>G (p.His92Arg) c.228A>G c.75A>G | gnomAD v4 |
| 8 | g.1771329A>T | CA369953220 | CLN8 | c.275A>T (p.His92Leu) c.228A>T c.75A>T | |
| 8 | g.1771330T>A | CA369953222 | CLN8 | c.276T>A (p.His92Gln) c.229T>A c.76T>A | |
| 8 | g.1771330T>C | CA459143165 | CLN8 | c.276T>C (p.His92=) c.229T>C c.76T>C | gnomAD v4 |
| 8 | g.1771330T>G | CA4599235 | CLN8 | c.276T>G (p.His92Gln) c.229T>G c.76T>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.1771330T= | CA1757667109 | CLN8 | c.276T= (p.His92=) c.229T= c.76T= | |
| 8 | g.1771331G>A | CA369953223 | CLN8 | c.277G>A (p.Ala93Thr) c.230G>A c.77G>A | |
| 8 | g.1771331G>C | CA369953224 | CLN8 | c.277G>C (p.Ala93Pro) c.230G>C c.77G>C | |
| 8 | g.1771331G>T | CA369953225 | CLN8 | c.277G>T (p.Ala93Ser) c.230G>T c.77G>T | |
| 8 | g.1771332C>A | CA369953226 | CLN8 | c.278C>A (p.Ala93Asp) c.231C>A c.78C>A | |
| 8 | g.1771332C= | CA1757667114 | CLN8 | c.278C= (p.Ala93=) c.231C= c.78C= | |
| 8 | g.1771332C>G | CA369953227 | CLN8 | c.278C>G (p.Ala93Gly) c.231C>G c.78C>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.1771332C>T | CA369953228 | CLN8 | c.278C>T (p.Ala93Val) c.231C>T c.78C>T | COSMIC COSMIC |
| 8 | g.1771333C>A | CA459143167 | CLN8 | c.279C>A (p.Ala93=) c.232C>A c.79C>A | |
| 8 | g.1771333C= | CA1757667118 | CLN8 | c.279C= (p.Ala93=) c.232C= c.79C= | |
| 8 | g.1771333C>G | CA459143166 | CLN8 | c.279C>G (p.Ala93=) c.232C>G c.79C>G | |
| 8 | g.1771333C>T | CA4599236 | CLN8 | c.279C>T (p.Ala93=) c.232C>T c.79C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.1771334G>A | CA4599237 | CLN8 | c.280G>A (p.Asp94Asn) c.233G>A c.80G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.1771334G>C | CA4599238 | CLN8 | c.280G>C (p.Asp94His) c.233G>C c.80G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.1771334G= | CA1757667123 | CLN8 | c.280G= (p.Asp94=) c.233G= c.80G= | |
| 8 | g.1771334G>T | CA369953229 | CLN8 | c.280G>T (p.Asp94Tyr) c.233G>T c.80G>T | |
| 8 | g.1771335A>C | CA369953231 | CLN8 | c.281A>C (p.Asp94Ala) c.234A>C c.81A>C | gnomAD v4 |
| 8 | g.1771335A>G | CA369953232 | CLN8 | c.281A>G (p.Asp94Gly) c.234A>G c.81A>G | |
| 8 | g.1771335A>T | CA369953230 | CLN8 | c.281A>T (p.Asp94Val) c.234A>T c.81A>T | |
| 8 | g.1771336C>A | CA369953233 | CLN8 | c.282C>A (p.Asp94Glu) c.235C>A c.82C>A | |
| 8 | g.1771336C>G | CA369953234 | CLN8 | c.282C>G (p.Asp94Glu) c.235C>G c.82C>G | gnomAD v4 |
| 8 | g.1771336C>T | CA459143168 | CLN8 | c.282C>T (p.Asp94=) c.235C>T c.82C>T | gnomAD v4 |
| 8 | g.1771337A= | CA1757667126 | CLN8 | c.283A= (p.Lys95=) c.236A= c.83A= | |
| 8 | g.1771337A>C | CA369953235 | CLN8 | c.283A>C (p.Lys95Gln) c.236A>C c.83A>C | |
| 8 | g.1771337A>G | CA369953236 | CLN8 | c.283A>G (p.Lys95Glu) c.236A>G c.83A>G | |
| 8 | g.1771337A>T | CA4599239 | CLN8 | c.283A>T (p.Lys95Ter) c.236A>T c.83A>T | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
| 8 | g.1771338A= | CA1757667130 | CLN8 | c.284A= (p.Lys95=) c.237A= c.84A= | |
| 8 | g.1771338A>C | CA369953239 | CLN8 | c.284A>C (p.Lys95Thr) c.237A>C c.84A>C | gnomAD v4 |
| 8 | g.1771338A>G | CA369953237 | CLN8 | c.284A>G (p.Lys95Arg) c.237A>G c.84A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.1771338A>T | CA369953238 | CLN8 | c.284A>T (p.Lys95Met) c.237A>T c.84A>T | |
| 8 | g.1771339G>A | CA459143169 | CLN8 | c.285G>A (p.Lys95=) c.238G>A c.85G>A | |
| 8 | g.1771339G>C | CA4599240 | CLN8 | c.285G>C (p.Lys95Asn) c.238G>C c.85G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.1771339G= | CA1757667133 | CLN8 | c.285G= (p.Lys95=) c.238G= c.85G= | |
| 8 | g.1771339G>T | CA369953240 | CLN8 | c.285G>T (p.Lys95Asn) c.238G>T c.85G>T | |
| 8 | g.1771340G>A | CA369953241 | CLN8 | c.286G>A (p.Ala96Thr) c.239G>A c.86G>A | |
| 8 | g.1771340G>C | CA369953242 | CLN8 | c.286G>C (p.Ala96Pro) c.239G>C c.86G>C | |
| 8 | g.1771340G>T | CA369953243 | CLN8 | c.286G>T (p.Ala96Ser) c.239G>T c.86G>T | |
| 8 | g.1771341C>A | CA369953244 | CLN8 | c.287C>A (p.Ala96Glu) c.240C>A c.87C>A | |
| 8 | g.1771341C= | CA1757667138 | CLN8 | c.287C= (p.Ala96=) c.240C= c.87C= | |
| 8 | g.1771341C>G | CA369953245 | CLN8 | c.287C>G (p.Ala96Gly) c.240C>G c.87C>G | |
| 8 | g.1771341C>T | CA4599241 | CLN8 | c.287C>T (p.Ala96Val) c.240C>T c.87C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 8 | g.1771342G>A | CA4599242 | CLN8 | c.288G>A (p.Ala96=) c.241G>A c.88G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.1771342G>C | CA459143170 | CLN8 | c.288G>C (p.Ala96=) c.241G>C c.88G>C | |
| 8 | g.1771342G= | CA1757667143 | CLN8 | c.288G= (p.Ala96=) c.241G= c.88G= | |
| 8 | g.1771342G>T | CA459143171 | CLN8 | c.288G>T (p.Ala96=) c.241G>T c.88G>T | |
| 8 | g.1771343C>A | CA369953248 | CLN8 | c.289C>A (p.Arg97Ser) c.242C>A c.89C>A | dbSNP |
| 8 | g.1771343C= | CA1757667146 | CLN8 | c.289C= (p.Arg97=) c.242C= c.89C= | |
| 8 | g.1771343C>G | CA369953246 | CLN8 | c.289C>G (p.Arg97Gly) c.242C>G c.89C>G | |
| 8 | g.1771343C>T | CA369953247 | CLN8 | c.289C>T (p.Arg97Cys) c.242C>T c.89C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.1771344del | CA2685938950 | CLN8 | c.290del (p.Arg97LeufsTer30) c.243del c.90del | gnomAD v4 |
| 8 | g.1771344G>A | CA302816 | CLN8 | c.290G>A (p.Arg97His) c.243G>A c.90G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.1771344G>C | CA369953249 | CLN8 | c.290G>C (p.Arg97Pro) c.243G>C c.90G>C | |
| 8 | g.1771344G= | CA1757667149 | CLN8 | c.290G= (p.Arg97=) c.243G= c.90G= | |
| 8 | g.1771344G>T | CA369953250 | CLN8 | c.290G>T (p.Arg97Leu) c.243G>T c.90G>T | ClinVar dbSNP gnomAD v4 |
| 8 | g.1771345T>A | CA459143172 | CLN8 | c.291T>A (p.Arg97=) c.244T>A c.91T>A | |
| 8 | g.1771345T>C | CA459143173 | CLN8 | c.291T>C (p.Arg97=) c.244T>C c.91T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.1771345T>G | CA459143174 | CLN8 | c.291T>G (p.Arg97=) c.244T>G c.91T>G | |
| 8 | g.1771345T= | CA1757667152 | CLN8 | c.291T= (p.Arg97=) c.244T= c.91T= | |
| 8 | g.1771346G>A | CA369953251 | CLN8 | c.292G>A (p.Gly98Ser) c.245G>A c.92G>A | |
| 8 | g.1771346G>C | CA369953252 | CLN8 | c.292G>C (p.Gly98Arg) c.245G>C c.92G>C | |
| 8 | g.1771346G>T | CA369953253 | CLN8 | c.292G>T (p.Gly98Cys) c.245G>T c.92G>T | |
| 8 | g.1771347G>A | CA4599243 | CLN8 | c.293G>A (p.Gly98Asp) c.246G>A c.93G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.1771347G>C | CA369953254 | CLN8 | c.293G>C (p.Gly98Ala) c.246G>C c.93G>C | |
| 8 | g.1771347G= | CA1757667154 | CLN8 | c.293G= (p.Gly98=) c.246G= c.93G= | |
| 8 | g.1771347G>T | CA369953255 | CLN8 | c.293G>T (p.Gly98Val) c.246G>T c.93G>T | |
| 8 | g.1771348C>A | CA459143176 | CLN8 | c.294C>A (p.Gly98=) c.247C>A c.94C>A | |
| 8 | g.1771348C= | CA1757667157 | CLN8 | c.294C= (p.Gly98=) c.247C= c.94C= | |
| 8 | g.1771348C>G | CA170445728 | CLN8 | c.294C>G (p.Gly98=) c.247C>G c.94C>G | dbSNP gnomAD v4 |
| 8 | g.1771348C>T | CA459143175 | CLN8 | c.294C>T (p.Gly98=) c.247C>T c.94C>T | |
| 8 | g.1771349C>A | CA369953257 | CLN8 | c.295C>A (p.Gln99Lys) c.248C>A c.95C>A | |
| 8 | g.1771349C= | CA1757667159 | CLN8 | c.295C= (p.Gln99=) c.248C= c.95C= | |
| 8 | g.1771349C>G | CA369953256 | CLN8 | c.295C>G (p.Gln99Glu) c.248C>G c.95C>G | |
| 8 | g.1771349C>T | CA170445729 | CLN8 | c.295C>T (p.Gln99Ter) c.248C>T c.95C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.1771350A= | CA1757667163 | CLN8 | c.296A= (p.Gln99=) c.249A= c.96A= | |
| 8 | g.1771350A>C | CA369953258 | CLN8 | c.296A>C (p.Gln99Pro) c.249A>C c.96A>C | |
| 8 | g.1771350A>G | CA16618617 | CLN8 | c.296A>G (p.Gln99Arg) c.249A>G c.96A>G | ClinVar dbSNP |
| 8 | g.1771350A>T | CA369953259 | CLN8 | c.296A>T (p.Gln99Leu) c.249A>T c.96A>T | |
| 8 | g.1771351G>A | CA16605469 | CLN8 | c.297G>A (p.Gln99=) c.250G>A c.97G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.1771351G>C | CA369953260 | CLN8 | c.297G>C (p.Gln99His) c.250G>C c.97G>C | |
| 8 | g.1771351G= | CA1757667167 | CLN8 | c.297G= (p.Gln99=) c.250G= c.97G= | |
| 8 | g.1771351G>T | CA369953261 | CLN8 | c.297G>T (p.Gln99His) c.250G>T c.97G>T | |
| 8 | g.1771352C>A | CA369953262 | CLN8 | c.298C>A (p.Gln100Lys) c.251C>A c.98C>A | |
| 8 | g.1771352C= | CA1757667169 | CLN8 | c.298C= (p.Gln100=) c.251C= c.98C= | |
| 8 | g.1771352C>G | CA4599244 | CLN8 | c.298C>G (p.Gln100Glu) c.251C>G c.98C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.1771352C>T | CA369953263 | CLN8 | c.298C>T (p.Gln100Ter) c.251C>T c.98C>T | |
| 8 | g.1771353A>C | CA369953264 | CLN8 | c.299A>C (p.Gln100Pro) c.252A>C c.99A>C | |
| 8 | g.1771353A>G | CA369953265 | CLN8 | c.299A>G (p.Gln100Arg) c.252A>G c.99A>G | ClinVar gnomAD v4 |
| 8 | g.1771353A>T | CA369953266 | CLN8 | c.299A>T (p.Gln100Leu) c.252A>T c.99A>T | |
| 8 | g.1771354G>A | CA4599245 | CLN8 | c.300G>A (p.Gln100=) c.253G>A c.100G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.1771354G>C | CA369953268 | CLN8 | c.300G>C (p.Gln100His) c.253G>C c.100G>C | |
| 8 | g.1771354G= | CA1757667172 | CLN8 | c.300G= (p.Gln100=) c.253G= c.100G= | |
| 8 | g.1771354G>T | CA369953267 | CLN8 | c.300G>T (p.Gln100His) c.253G>T c.100G>T | |
| 8 | g.1771355A>C | CA369953269 | CLN8 | c.301A>C (p.Asn101His) c.254A>C c.101A>C | |
| 8 | g.1771355A>G | CA369953270 | CLN8 | c.301A>G (p.Asn101Asp) c.254A>G c.101A>G | |
| 8 | g.1771355A>T | CA369953271 | CLN8 | c.301A>T (p.Asn101Tyr) c.254A>T c.101A>T | |
| 8 | g.1771356A= | CA1757667175 | CLN8 | c.302A= (p.Asn101=) c.255A= c.102A= | |
| 8 | g.1771356A>C | CA369953272 | CLN8 | c.302A>C (p.Asn101Thr) c.255A>C c.102A>C | |
| 8 | g.1771356A>G | CA4599246 | CLN8 | c.302A>G (p.Asn101Ser) c.255A>G c.102A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.1771356A>T | CA369953273 | CLN8 | c.302A>T (p.Asn101Ile) c.255A>T c.102A>T | |
| 8 | g.1771357C>A | CA369953274 | CLN8 | c.303C>A (p.Asn101Lys) c.256C>A c.103C>A | |
| 8 | g.1771357C= | CA1757667180 | CLN8 | c.303C= (p.Asn101=) c.256C= c.103C= | |
| 8 | g.1771357C>G | CA4599247 | CLN8 | c.303C>G (p.Asn101Lys) c.256C>G c.103C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.1771357C>T | CA459143177 | CLN8 | c.303C>T (p.Asn101=) c.256C>T c.103C>T | ClinVar dbSNP gnomAD v4 |
| 8 | g.1771358T>A | CA369953275 | CLN8 | c.304T>A (p.Trp102Arg) c.257T>A c.104T>A | gnomAD v4 |
| 8 | g.1771358T>C | CA369953276 | CLN8 | c.304T>C (p.Trp102Arg) c.257T>C c.104T>C | |
| 8 | g.1771358T>G | CA369953277 | CLN8 | c.304T>G (p.Trp102Gly) c.257T>G c.104T>G | |
| 8 | g.1771359G>A | CA369953278 | CLN8 | c.305G>A (p.Trp102Ter) c.258G>A c.105G>A | |
| 8 | g.1771359G>C | CA369953279 | CLN8 | c.305G>C (p.Trp102Ser) c.258G>C c.105G>C | |
| 8 | g.1771359G= | CA1757667186 | CLN8 | c.305G= (p.Trp102=) c.258G= c.105G= | |
| 8 | g.1771359G>T | CA314047 | CLN8 | c.305G>T (p.Trp102Leu) c.258G>T c.105G>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.1771360G>A | CA369953280 | CLN8 | c.306G>A (p.Trp102Ter) c.259G>A c.106G>A | ClinVar dbSNP |
| 8 | g.1771360G>C | CA369953282 | CLN8 | c.306G>C (p.Trp102Cys) c.259G>C c.106G>C | ClinVar dbSNP |
| 8 | g.1771360G= | CA1757667192 | CLN8 | c.306G= (p.Trp102=) c.259G= c.106G= | |
| 8 | g.1771360G>T | CA369953281 | CLN8 | c.306G>T (p.Trp102Cys) c.259G>T c.106G>T | gnomAD v4 |
| 8 | g.1771361T>A | CA369953283 | CLN8 | c.307T>A (p.Cys103Ser) c.260T>A c.107T>A | |
| 8 | g.1771361T>C | CA369953284 | CLN8 | c.307T>C (p.Cys103Arg) c.260T>C c.107T>C | |
| 8 | g.1771361T>G | CA369953285 | CLN8 | c.307T>G (p.Cys103Gly) c.260T>G c.107T>G | |
| 8 | g.1771362G>A | CA369953286 | CLN8 | c.308G>A (p.Cys103Tyr) c.261G>A c.108G>A | |
| 8 | g.1771362G>C | CA369953287 | CLN8 | c.308G>C (p.Cys103Ser) c.261G>C c.108G>C | |
| 8 | g.1771362G>T | CA369953288 | CLN8 | c.308G>T (p.Cys103Phe) c.261G>T c.108G>T | |
| 8 | g.1771363C>A | CA369953289 | CLN8 | c.309C>A (p.Cys103Ter) c.262C>A c.109C>A | |
| 8 | g.1771363C= | CA1757667198 | CLN8 | c.309C= (p.Cys103=) c.262C= c.109C= | |
| 8 | g.1771363C>G | CA369953290 | CLN8 | c.309C>G (p.Cys103Trp) c.262C>G c.109C>G | dbSNP |
| 8 | g.1771363C>T | CA459143178 | CLN8 | c.309C>T (p.Cys103=) c.262C>T c.109C>T | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.1771364T>A | CA369953291 | CLN8 | c.310T>A (p.Trp104Arg) c.263T>A c.110T>A | gnomAD v4 |
| 8 | g.1771364T>C | CA369953292 | CLN8 | c.310T>C (p.Trp104Arg) c.263T>C c.110T>C | |
| 8 | g.1771364T>G | CA369953293 | CLN8 | c.310T>G (p.Trp104Gly) c.263T>G c.110T>G | |
| 8 | g.1771365G>A | CA369953295 | CLN8 | c.311G>A (p.Trp104Ter) c.264G>A c.111G>A | ClinVar dbSNP |
| 8 | g.1771365G>C | CA369953296 | CLN8 | c.311G>C (p.Trp104Ser) c.264G>C c.111G>C | |
| 8 | g.1771365G= | CA1757667203 | CLN8 | c.311G= (p.Trp104=) c.264G= c.111G= | |
| 8 | g.1771365G>T | CA369953294 | CLN8 | c.311G>T (p.Trp104Leu) c.264G>T c.111G>T | |
| 8 | g.1771366G>A | CA369953297 | CLN8 | c.312G>A (p.Trp104Ter) c.265G>A c.112G>A | ClinVar dbSNP |
| 8 | g.1771366G>C | CA369953299 | CLN8 | c.312G>C (p.Trp104Cys) c.265G>C c.112G>C | |
| 8 | g.1771366G= | CA1757667209 | CLN8 | c.312G= (p.Trp104=) c.265G= c.112G= | |
| 8 | g.1771366G>T | CA369953298 | CLN8 | c.312G>T (p.Trp104Cys) c.265G>T c.112G>T | ClinVar dbSNP |
| 8 | g.1771367T>A | CA369953300 | CLN8 | c.313T>A (p.Phe105Ile) c.266T>A c.113T>A | |
| 8 | g.1771367T>C | CA369953302 | CLN8 | c.313T>C (p.Phe105Leu) c.266T>C c.113T>C | |
| 8 | g.1771367T>G | CA369953301 | CLN8 | c.313T>G (p.Phe105Val) c.266T>G c.113T>G | |
| 8 | g.1771369del | CA2697549728 | CLN8 | c.315del (p.His106ThrfsTer21) c.268del c.115del | ClinVar |
| 8 | g.1771368T>A | CA369953303 | CLN8 | c.314T>A (p.Phe105Tyr) c.267T>A c.114T>A | |
| 8 | g.1771368T>C | CA369953304 | CLN8 | c.314T>C (p.Phe105Ser) c.267T>C c.114T>C | |
| 8 | g.1771368T>G | CA369953305 | CLN8 | c.314T>G (p.Phe105Cys) c.267T>G c.114T>G | |
| 8 | g.1771369T>A | CA369953306 | CLN8 | c.315T>A (p.Phe105Leu) c.268T>A c.115T>A | |
| 8 | g.1771369T>C | CA459143179 | CLN8 | c.315T>C (p.Phe105=) c.268T>C c.115T>C | |
| 8 | g.1771369T>G | CA369953307 | CLN8 | c.315T>G (p.Phe105Leu) c.268T>G c.115T>G | |
| 8 | g.1771370C>A | CA369953308 | CLN8 | c.316C>A (p.His106Asn) c.269C>A c.116C>A | |
| 8 | g.1771370C= | CA1757667212 | CLN8 | c.316C= (p.His106=) c.269C= c.116C= | |
| 8 | g.1771370C>G | CA369953309 | CLN8 | c.316C>G (p.His106Asp) c.269C>G c.116C>G | |
| 8 | g.1771370C>T | CA369953310 | CLN8 | c.316C>T (p.His106Tyr) c.269C>T c.116C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.1771371A>C | CA369953311 | CLN8 | c.317A>C (p.His106Pro) c.270A>C c.117A>C | |
| 8 | g.1771371A>G | CA369953312 | CLN8 | c.317A>G (p.His106Arg) c.270A>G c.117A>G | gnomAD v4 |
| 8 | g.1771371A>T | CA369953313 | CLN8 | c.317A>T (p.His106Leu) c.270A>T c.117A>T | |
| 8 | g.1771372C>A | CA369953315 | CLN8 | c.318C>A (p.His106Gln) c.271C>A c.118C>A | |
| 8 | g.1771372C= | CA1757667215 | CLN8 | c.318C= (p.His106=) c.271C= c.118C= | |
| 8 | g.1771372C>G | CA369953314 | CLN8 | c.318C>G (p.His106Gln) c.271C>G c.118C>G | |
| 8 | g.1771372C>T | CA4599248 | CLN8 | c.318C>T (p.His106=) c.271C>T c.118C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.1771373del | CA2685938951 | CLN8 | c.319del (p.Ile107SerfsTer20) c.272del c.119del | gnomAD v4 |
| 8 | g.1771373A= | CA1757667220 | CLN8 | c.319A= (p.Ile107=) c.272A= c.119A= | |
| 8 | g.1771373A>C | CA369953316 | CLN8 | c.319A>C (p.Ile107Leu) c.272A>C c.119A>C | |
| 8 | g.1771373A>G | CA369953317 | CLN8 | c.319A>G (p.Ile107Val) c.272A>G c.119A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.1771373A>T | CA369953318 | CLN8 | c.319A>T (p.Ile107Phe) c.272A>T c.119A>T | |
| 8 | g.1771374T>A | CA369953319 | CLN8 | c.320T>A (p.Ile107Asn) c.273T>A c.120T>A | |
| 8 | g.1771374T>C | CA369953320 | CLN8 | c.320T>C (p.Ile107Thr) c.273T>C c.120T>C | |
| 8 | g.1771374T>G | CA264163 | CLN8 | c.320T>G (p.Ile107Ser) c.273T>G c.120T>G | ClinVar dbSNP |
| 8 | g.1771374T= | CA1757667223 | CLN8 | c.320T= (p.Ile107=) c.273T= c.120T= | |
| 8 | g.1771375C>A | CA459143180 | CLN8 | c.321C>A (p.Ile107=) c.274C>A c.121C>A | |
| 8 | g.1771375C>G | CA369953321 | CLN8 | c.321C>G (p.Ile107Met) c.274C>G c.121C>G | ClinVar dbSNP gnomAD v4 |
| 8 | g.1771375C>T | CA459143181 | CLN8 | c.321C>T (p.Ile107=) c.274C>T c.121C>T | ClinVar dbSNP gnomAD v4 |
| 8 | g.1771376A>C | CA369953322 | CLN8 | c.322A>C (p.Thr108Pro) c.275A>C c.122A>C | |
| 8 | g.1771376A>G | CA369953323 | CLN8 | c.322A>G (p.Thr108Ala) c.275A>G c.122A>G | ClinVar gnomAD v4 |
| 8 | g.1771376A>T | CA369953324 | CLN8 | c.322A>T (p.Thr108Ser) c.275A>T c.122A>T | |
| 8 | g.1771377C>A | CA369953325 | CLN8 | c.323C>A (p.Thr108Lys) c.276C>A c.123C>A | |
| 8 | g.1771377C= | CA1757667230 | CLN8 | c.323C= (p.Thr108=) c.276C= c.123C= | |
| 8 | g.1771377C>G | CA369953326 | CLN8 | c.323C>G (p.Thr108Arg) c.276C>G c.123C>G | |
| 8 | g.1771377C>T | CA4599249 | CLN8 | c.323C>T (p.Thr108Met) c.276C>T c.123C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.1771378G>A | CA4599250 | CLN8 | c.324G>A (p.Thr108=) c.277G>A c.124G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.1771378G>C | CA459143182 | CLN8 | c.324G>C (p.Thr108=) c.277G>C c.124G>C | |
| 8 | g.1771378G= | CA1757667237 | CLN8 | c.324G= (p.Thr108=) c.277G= c.124G= | |
| 8 | g.1771378G>T | CA459143183 | CLN8 | c.324G>T (p.Thr108=) c.277G>T c.124G>T | ClinVar |
| 8 | g.1771379A>C | CA369953329 | CLN8 | c.325A>C (p.Thr109Pro) c.278A>C c.125A>C | |
| 8 | g.1771379A>G | CA369953327 | CLN8 | c.325A>G (p.Thr109Ala) c.278A>G c.125A>G | |
| 8 | g.1771379A>T | CA369953328 | CLN8 | c.325A>T (p.Thr109Ser) c.278A>T c.125A>T | |
| 8 | g.1771380C>A | CA369953330 | CLN8 | c.326C>A (p.Thr109Lys) c.279C>A c.126C>A | gnomAD v4 |
| 8 | g.1771380C= | CA1757667240 | CLN8 | c.326C= (p.Thr109=) c.279C= c.126C= | |
| 8 | g.1771380C>G | CA369953331 | CLN8 | c.326C>G (p.Thr109Arg) c.279C>G c.126C>G | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.1771380C>T | CA369953332 | CLN8 | c.326C>T (p.Thr109Ile) c.279C>T c.126C>T | gnomAD v4 |
| 8 | g.1771381A>C | CA459143184 | CLN8 | c.327A>C (p.Thr109=) c.280A>C c.127A>C | |
| 8 | g.1771381A>G | CA459143185 | CLN8 | c.327A>G (p.Thr109=) c.280A>G c.127A>G | ClinVar gnomAD v4 |
| 8 | g.1771381A>T | CA459143186 | CLN8 | c.327A>T (p.Thr109=) c.280A>T c.127A>T | |
| 8 | g.1771382G>A | CA369953335 | CLN8 | c.328G>A (p.Ala110Thr) c.281G>A c.128G>A | gnomAD v4 |
| 8 | g.1771382G>C | CA369953334 | CLN8 | c.328G>C (p.Ala110Pro) c.281G>C c.128G>C | gnomAD v4 |
| 8 | g.1771382G>T | CA369953333 | CLN8 | c.328G>T (p.Ala110Ser) c.281G>T c.128G>T | COSMIC COSMIC |
| 8 | g.1771383C>A | CA369953336 | CLN8 | c.329C>A (p.Ala110Glu) c.282C>A c.129C>A | |
| 8 | g.1771383C= | CA1757667242 | CLN8 | c.329C= (p.Ala110=) c.282C= c.129C= | |
| 8 | g.1771383C>G | CA369953337 | CLN8 | c.329C>G (p.Ala110Gly) c.282C>G c.129C>G | |
| 8 | g.1771383C>T | CA170445742 | CLN8 | c.329C>T (p.Ala110Val) c.282C>T c.129C>T | dbSNP |
| 8 | g.1771384A>C | CA459143187 | CLN8 | c.330A>C (p.Ala110=) c.283A>C c.130A>C | |
| 8 | g.1771384A>G | CA459143189 | CLN8 | c.330A>G (p.Ala110=) c.283A>G c.130A>G | ClinVar dbSNP gnomAD v4 |
| 8 | g.1771384A>T | CA459143188 | CLN8 | c.330A>T (p.Ala110=) c.283A>T c.130A>T | |
| 8 | g.1771385A= | CA1757667246 | CLN8 | c.331A= (p.Thr111=) c.284A= c.131A= | |
| 8 | g.1771385A>C | CA369953338 | CLN8 | c.331A>C (p.Thr111Pro) c.284A>C c.131A>C | |
| 8 | g.1771385A>G | CA369953339 | CLN8 | c.331A>G (p.Thr111Ala) c.284A>G c.131A>G | ClinVar dbSNP |
| 8 | g.1771385A>T | CA369953340 | CLN8 | c.331A>T (p.Thr111Ser) c.284A>T c.131A>T | |
| 8 | g.1771386C>A | CA369953341 | CLN8 | c.332C>A (p.Thr111Lys) c.285C>A c.132C>A | |
| 8 | g.1771386C= | CA1757667250 | CLN8 | c.332C= (p.Thr111=) c.285C= c.132C= | |
| 8 | g.1771386C>G | CA369953342 | CLN8 | c.332C>G (p.Thr111Arg) c.285C>G c.132C>G | |
| 8 | g.1771386C>T | CA4599251 | CLN8 | c.332C>T (p.Thr111Met) c.285C>T c.132C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 8 | g.1771387G>A | CA4599252 | CLN8 | c.333G>A (p.Thr111=) c.286G>A c.133G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 8 | g.1771387G>C | CA459143190 | CLN8 | c.333G>C (p.Thr111=) c.286G>C c.133G>C | |
| 8 | g.1771387G= | CA1757667257 | CLN8 | c.333G= (p.Thr111=) c.286G= c.133G= | |
| 8 | g.1771387G>T | CA170445746 | CLN8 | c.333G>T (p.Thr111=) c.286G>T c.133G>T | dbSNP |
| 8 | g.1771388G>A | CA369953343 | CLN8 | c.334G>A (p.Gly112Arg) c.287G>A c.134G>A | |
| 8 | g.1771388G>C | CA369953344 | CLN8 | c.334G>C (p.Gly112Arg) c.287G>C c.134G>C | |
| 8 | g.1771388G>T | CA369953345 | CLN8 | c.334G>T (p.Gly112Ter) c.287G>T c.134G>T | |
| 8 | g.1771389G>A | CA369953346 | CLN8 | c.335G>A (p.Gly112Glu) c.288G>A c.135G>A | |
| 8 | g.1771389G>C | CA369953347 | CLN8 | c.335G>C (p.Gly112Ala) c.288G>C c.135G>C | |
| 8 | g.1771389G= | CA1757667263 | CLN8 | c.335G= (p.Gly112=) c.288G= c.135G= | |
| 8 | g.1771389G>T | CA369953348 | CLN8 | c.335G>T (p.Gly112Val) c.288G>T c.135G>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.1771390A= | CA1757667267 | CLN8 | c.336A= (p.Gly112=) c.289A= c.136A= | |
| 8 | g.1771390A>C | CA459143191 | CLN8 | c.336A>C (p.Gly112=) c.289A>C c.136A>C | |
| 8 | g.1771390A>G | CA459143192 | CLN8 | c.336A>G (p.Gly112=) c.289A>G c.136A>G | |
| 8 | g.1771390A>T | CA459143193 | CLN8 | c.336A>T (p.Gly112=) c.289A>T c.136A>T | ClinVar dbSNP |
| 8 | g.1771390_1771391delinsAT | CA1757667265 | CLN8 | c.336_337delinsAT (p.Gly112=) c.289_290delinsAT c.136_137delinsAT | |
| 8 | g.1771391T>A | CA369953349 | CLN8 | c.337T>A (p.Phe113Ile) c.290T>A c.137T>A | |
| 8 | g.1771391T>C | CA369953350 | CLN8 | c.337T>C (p.Phe113Leu) c.290T>C c.137T>C | |
| 8 | g.1771391T>G | CA369953351 | CLN8 | c.337T>G (p.Phe113Val) c.290T>G c.137T>G | |
| 8 | g.1771392del | CA579552634 | CLN8 | c.338del (p.Phe113SerfsTer14) c.291del c.138del | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.1771392T>A | CA369953352 | CLN8 | c.338T>A (p.Phe113Tyr) c.291T>A c.138T>A | |
| 8 | g.1771392T>C | CA369953354 | CLN8 | c.338T>C (p.Phe113Ser) c.291T>C c.138T>C | |
| 8 | g.1771392T>G | CA369953353 | CLN8 | c.338T>G (p.Phe113Cys) c.291T>G c.138T>G | |
| 8 | g.1771393C>A | CA369953355 | CLN8 | c.339C>A (p.Phe113Leu) c.292C>A c.139C>A | |
| 8 | g.1771393C= | CA1757667271 | CLN8 | c.339C= (p.Phe113=) c.292C= c.139C= | |
| 8 | g.1771393C>G | CA369953356 | CLN8 | c.339C>G (p.Phe113Leu) c.292C>G c.139C>G | ClinVar dbSNP |
| 8 | g.1771393C>T | CA459143194 | CLN8 | c.339C>T (p.Phe113=) c.292C>T c.139C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.1771394T>A | CA369953357 | CLN8 | c.340T>A (p.Phe114Ile) c.293T>A c.140T>A | |
| 8 | g.1771394T>C | CA369953358 | CLN8 | c.340T>C (p.Phe114Leu) c.293T>C c.140T>C | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.1771394T>G | CA369953359 | CLN8 | c.340T>G (p.Phe114Val) c.293T>G c.140T>G | |
| 8 | g.1771394T= | CA1757667277 | CLN8 | c.340T= (p.Phe114=) c.293T= c.140T= | |
| 8 | g.1771395T>A | CA369953360 | CLN8 | c.341T>A (p.Phe114Tyr) c.294T>A c.141T>A | |
| 8 | g.1771395T>C | CA369953361 | CLN8 | c.341T>C (p.Phe114Ser) c.294T>C c.141T>C | |
| 8 | g.1771395T>G | CA369953362 | CLN8 | c.341T>G (p.Phe114Cys) c.294T>G c.141T>G | |
| 8 | g.1771396T>A | CA369953363 | CLN8 | c.342T>A (p.Phe114Leu) c.295T>A c.142T>A | |
| 8 | g.1771396T>C | CA170445748 | CLN8 | c.342T>C (p.Phe114=) c.295T>C c.142T>C | dbSNP gnomAD v4 |
| 8 | g.1771396T>G | CA369953364 | CLN8 | c.342T>G (p.Phe114Leu) c.295T>G c.142T>G | |
| 8 | g.1771396T= | CA1757667282 | CLN8 | c.342T= (p.Phe114=) c.295T= c.142T= | |
| 8 | g.1771397T>A | CA369953365 | CLN8 | c.343T>A (p.Cys115Ser) c.296T>A c.143T>A | |
| 8 | g.1771397T>C | CA369953366 | CLN8 | c.343T>C (p.Cys115Arg) c.296T>C c.143T>C | COSMIC COSMIC |
| 8 | g.1771397T>G | CA369953367 | CLN8 | c.343T>G (p.Cys115Gly) c.296T>G c.143T>G | |
| 8 | g.1771398G>A | CA369953370 | CLN8 | c.344G>A (p.Cys115Tyr) c.297G>A c.144G>A | |
| 8 | g.1771398G>C | CA369953368 | CLN8 | c.344G>C (p.Cys115Ser) c.297G>C c.144G>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.1771398G= | CA1757667284 | CLN8 | c.344G= (p.Cys115=) c.297G= c.144G= | |
| 8 | g.1771398G>T | CA369953369 | CLN8 | c.344G>T (p.Cys115Phe) c.297G>T c.144G>T | |
| 8 | g.1771399C>A | CA369953371 | CLN8 | c.345C>A (p.Cys115Ter) c.298C>A c.145C>A | |
| 8 | g.1771399C= | CA1757667289 | CLN8 | c.345C= (p.Cys115=) c.298C= c.145C= | |
| 8 | g.1771399C>G | CA369953372 | CLN8 | c.345C>G (p.Cys115Trp) c.298C>G c.145C>G | dbSNP |
| 8 | g.1771399C>T | CA459143195 | CLN8 | c.345C>T (p.Cys115=) c.298C>T c.145C>T | ClinVar dbSNP gnomAD v2 |
| 8 | g.1771400T>A | CA369953373 | CLN8 | c.346T>A (p.Phe116Ile) c.299T>A c.146T>A | |
| 8 | g.1771400T>C | CA369953374 | CLN8 | c.346T>C (p.Phe116Leu) c.299T>C c.146T>C | |
| 8 | g.1771400T>G | CA369953375 | CLN8 | c.346T>G (p.Phe116Val) c.299T>G c.146T>G | |
| 8 | g.1771401T>A | CA369953376 | CLN8 | c.347T>A (p.Phe116Tyr) c.300T>A c.147T>A | |
| 8 | g.1771401T>C | CA369953377 | CLN8 | c.347T>C (p.Phe116Ser) c.300T>C c.147T>C | ClinVar dbSNP |
| 8 | g.1771401T>G | CA369953378 | CLN8 | c.347T>G (p.Phe116Cys) c.300T>G c.147T>G | |
| 8 | g.1771401T= | CA1757667291 | CLN8 | c.347T= (p.Phe116=) c.300T= c.147T= | |
| 8 | g.1771402T>A | CA369953379 | CLN8 | c.348T>A (p.Phe116Leu) c.301T>A c.148T>A | ClinVar dbSNP |
| 8 | g.1771402T>C | CA459143196 | CLN8 | c.348T>C (p.Phe116=) c.301T>C c.148T>C | dbSNP |
| 8 | g.1771402T>G | CA369953380 | CLN8 | c.348T>G (p.Phe116Leu) c.301T>G c.148T>G | |
| 8 | g.1771402T= | CA1757667297 | CLN8 | c.348T= (p.Phe116=) c.301T= c.148T= | |
| 8 | g.1771403G>A | CA369953382 | CLN8 | c.349G>A (p.Glu117Lys) c.302G>A c.149G>A | COSMIC COSMIC |
| 8 | g.1771403G>C | CA170445750 | CLN8 | c.349G>C (p.Glu117Gln) c.302G>C c.149G>C | dbSNP gnomAD v4 |
| 8 | g.1771403G= | CA1757667302 | CLN8 | c.349G= (p.Glu117=) c.302G= c.149G= | |
| 8 | g.1771403G>T | CA369953381 | CLN8 | c.349G>T (p.Glu117Ter) c.302G>T c.149G>T | |
| 8 | g.1771404A>C | CA369953383 | CLN8 | c.350A>C (p.Glu117Ala) c.303A>C c.150A>C | |
| 8 | g.1771404A>G | CA369953384 | CLN8 | c.350A>G (p.Glu117Gly) c.303A>G c.150A>G | |
| 8 | g.1771404A>T | CA369953385 | CLN8 | c.350A>T (p.Glu117Val) c.303A>T c.150A>T | |
| 8 | g.1771405A>C | CA369953386 | CLN8 | c.351A>C (p.Glu117Asp) c.304A>C c.151A>C | |
| 8 | g.1771405A>G | CA459143197 | CLN8 | c.351A>G (p.Glu117=) c.304A>G c.151A>G | gnomAD v4 |
| 8 | g.1771405A>T | CA369953387 | CLN8 | c.351A>T (p.Glu117Asp) c.304A>T c.151A>T | |
| 8 | g.1771406A>C | CA369953390 | CLN8 | c.352A>C (p.Asn118His) c.305A>C c.152A>C | |
| 8 | g.1771406A>G | CA369953388 | CLN8 | c.352A>G (p.Asn118Asp) c.305A>G c.152A>G | |
| 8 | g.1771406A>T | CA369953389 | CLN8 | c.352A>T (p.Asn118Tyr) c.305A>T c.152A>T | |
| 8 | g.1771407A= | CA1757667307 | CLN8 | c.353A= (p.Asn118=) c.306A= c.153A= | |
| 8 | g.1771407A>C | CA4599253 | CLN8 | c.353A>C (p.Asn118Thr) c.306A>C c.153A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.1771407A>G | CA369953391 | CLN8 | c.353A>G (p.Asn118Ser) c.306A>G c.153A>G | ClinVar dbSNP |
| 8 | g.1771407A>T | CA369953392 | CLN8 | c.353A>T (p.Asn118Ile) c.306A>T c.153A>T | |
| 8 | g.1771408T>A | CA369953393 | CLN8 | c.354T>A (p.Asn118Lys) c.307T>A c.154T>A | |
| 8 | g.1771408T>C | CA459143198 | CLN8 | c.354T>C (p.Asn118=) c.307T>C c.154T>C | |
| 8 | g.1771408T>G | CA369953394 | CLN8 | c.354T>G (p.Asn118Lys) c.307T>G c.154T>G | gnomAD v4 |
| 8 | g.1771409G>A | CA369953395 | CLN8 | c.355G>A (p.Val119Ile) c.308G>A c.155G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.1771409G>C | CA369953397 | CLN8 | c.355G>C (p.Val119Leu) c.308G>C c.155G>C | |
| 8 | g.1771409G= | CA1757667309 | CLN8 | c.355G= (p.Val119=) c.308G= c.155G= | |
| 8 | g.1771409G>T | CA369953396 | CLN8 | c.355G>T (p.Val119Phe) c.308G>T c.155G>T | |
| 8 | g.1771410T>A | CA369953398 | CLN8 | c.356T>A (p.Val119Asp) c.309T>A c.156T>A | |
| 8 | g.1771410T>C | CA369953399 | CLN8 | c.356T>C (p.Val119Ala) c.309T>C c.156T>C | gnomAD v4 |
| 8 | g.1771410T>G | CA369953400 | CLN8 | c.356T>G (p.Val119Gly) c.309T>G c.156T>G | |
| 8 | g.1771411T>A | CA459143199 | CLN8 | c.357T>A (p.Val119=) c.310T>A c.157T>A | |
| 8 | g.1771411T>C | CA459143200 | CLN8 | c.357T>C (p.Val119=) c.310T>C c.157T>C | |
| 8 | g.1771411T>G | CA459143201 | CLN8 | c.357T>G (p.Val119=) c.310T>G c.157T>G | |
| 8 | g.1771412G>A | CA369953401 | CLN8 | c.358G>A (p.Ala120Thr) c.311G>A c.158G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.1771412G>C | CA369953402 | CLN8 | c.358G>C (p.Ala120Pro) c.311G>C c.158G>C | |
| 8 | g.1771412G= | CA1757667314 | CLN8 | c.358G= (p.Ala120=) c.311G= c.158G= | |
| 8 | g.1771412G>T | CA369953403 | CLN8 | c.358G>T (p.Ala120Ser) c.311G>T c.158G>T | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 8 | g.1771413C>A | CA369953404 | CLN8 | c.359C>A (p.Ala120Glu) c.312C>A c.159C>A | |
| 8 | g.1771413C>G | CA369953405 | CLN8 | c.359C>G (p.Ala120Gly) c.312C>G c.159C>G | |
| 8 | g.1771413C>T | CA369953406 | CLN8 | c.359C>T (p.Ala120Val) c.312C>T c.159C>T | ClinVar gnomAD v4 |
| 8 | g.1771414A>C | CA459143203 | CLN8 | c.360A>C (p.Ala120=) c.313A>C c.160A>C | gnomAD v4 |
| 8 | g.1771414A>G | CA459143204 | CLN8 | c.360A>G (p.Ala120=) c.313A>G c.160A>G | ClinVar dbSNP gnomAD v4 |
| 8 | g.1771414A>T | CA459143202 | CLN8 | c.360A>T (p.Ala120=) c.313A>T c.160A>T | |
| 8 | g.1771415G>A | CA369953407 | CLN8 | c.361G>A (p.Val121Ile) c.314G>A c.161G>A | ClinVar dbSNP |
| 8 | g.1771415G>C | CA369953408 | CLN8 | c.361G>C (p.Val121Leu) c.314G>C c.161G>C | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.1771415G= | CA1757667318 | CLN8 | c.361G= (p.Val121=) c.314G= c.161G= | |
| 8 | g.1771415G>T | CA369953409 | CLN8 | c.361G>T (p.Val121Phe) c.314G>T c.161G>T |