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.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 |
| 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 |