| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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 |
| 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 |