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 |
|---|---|---|---|---|---|
| 13 | g.76992041_76992352del | CA2573149748 | CLN5 | c.-58_173+81del c.90_320+81del | ClinVar dbSNP |
| 13 | g.76992059G>A | CA484334640 | CLN5 | c.-40G>A (n.-40G>A) c.108G>A (p.Ser36=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.76992059G>C | CA484334641 | CLN5 | c.-40G>C (n.-40G>C) c.108G>C (p.Ser36=) | |
| 13 | g.76992059G= | CA2103418003 | CLN5 | c.-40G= (n.-40G=) c.108G= (p.Ser36=) | |
| 13 | g.76992059G>T | CA484334642 | CLN5 | c.-40G>T (n.-40G>T) c.108G>T (p.Ser36=) | ClinVar dbSNP gnomAD v4 |
| 13 | g.76992060C>A | CA388306027 | CLN5 | c.-39C>A (n.-39C>A) c.109C>A (p.Gln37Lys) | |
| 13 | g.76992060C>G | CA388306030 | CLN5 | c.-39C>G (n.-39C>G) c.109C>G (p.Gln37Glu) | |
| 13 | g.76992060C>T | CA388306028 | CLN5 | c.-39C>T (n.-39C>T) c.109C>T (p.Gln37Ter) | |
| 13 | g.76992061A= | CA2103418007 | CLN5 | c.-38A= (n.-38A=) c.110A= (p.Gln37=) | |
| 13 | g.76992061A>C | CA388306034 | CLN5 | c.-38A>C (n.-38A>C) c.110A>C (p.Gln37Pro) | |
| 13 | g.76992061A>G | CA7007092 | CLN5 | c.-38A>G (n.-38A>G) c.110A>G (p.Gln37Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.76992061A>T | CA388306038 | CLN5 | c.-38A>T (n.-38A>T) c.110A>T (p.Gln37Leu) | |
| 13 | g.76992063_76992082del | CA2623294708 | CLN5 | c.-36_-17del (n.-36_-17del) c.112_131del (p.Ala38TyrfsTer?) | gnomAD v4 |
| 13 | g.76992062G>A | CA484334643 | CLN5 | c.-37G>A (n.-37G>A) c.111G>A (p.Gln37=) | ClinVar dbSNP gnomAD v4 |
| 13 | g.76992062G>C | CA388306039 | CLN5 | c.-37G>C (n.-37G>C) c.111G>C (p.Gln37His) | |
| 13 | g.76992062G= | CA2103418014 | CLN5 | c.-37G= (n.-37G=) c.111G= (p.Gln37=) | |
| 13 | g.76992062G>T | CA388306040 | CLN5 | c.-37G>T (n.-37G>T) c.111G>T (p.Gln37His) | |
| 13 | g.76992063G>A | CA388306041 | CLN5 | c.-36G>A (n.-36G>A) c.112G>A (p.Ala38Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.76992063G>C | CA388306043 | CLN5 | c.-36G>C (n.-36G>C) c.112G>C (p.Ala38Pro) | |
| 13 | g.76992063G= | CA2103418017 | CLN5 | c.-36G= (n.-36G=) c.112G= (p.Ala38=) | |
| 13 | g.76992063G>T | CA388306045 | CLN5 | c.-36G>T (n.-36G>T) c.112G>T (p.Ala38Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.76992064C>A | CA388306046 | CLN5 | c.-35C>A (n.-35C>A) c.113C>A (p.Ala38Asp) | |
| 13 | g.76992064C>G | CA388306047 | CLN5 | c.-35C>G (n.-35C>G) c.113C>G (p.Ala38Gly) | |
| 13 | g.76992064C>T | CA388306049 | CLN5 | c.-35C>T (n.-35C>T) c.113C>T (p.Ala38Val) | gnomAD v4 |
| 13 | g.76992065C>A | CA484334648 | CLN5 | c.-34C>A (n.-34C>A) c.114C>A (p.Ala38=) | |
| 13 | g.76992065C>G | CA484334646 | CLN5 | c.-34C>G (n.-34C>G) c.114C>G (p.Ala38=) | ClinVar dbSNP |
| 13 | g.76992065C>T | CA484334647 | CLN5 | c.-34C>T (n.-34C>T) c.114C>T (p.Ala38=) | gnomAD v4 |
| 13 | g.76992066T>A | CA388306051 | CLN5 | c.-33T>A (n.-33T>A) c.115T>A (p.Ser39Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.76992066T>C | CA388306052 | CLN5 | c.-33T>C (n.-33T>C) c.115T>C (p.Ser39Pro) | |
| 13 | g.76992066T>G | CA388306053 | CLN5 | c.-33T>G (n.-33T>G) c.115T>G (p.Ser39Ala) | ClinVar dbSNP |
| 13 | g.76992066T= | CA2103418020 | CLN5 | c.-33T= (n.-33T=) c.115T= (p.Ser39=) | |
| 13 | g.76992067C>A | CA313900 | CLN5 | c.-32C>A (n.-32C>A) c.116C>A (p.Ser39Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.76992067C= | CA2103418029 | CLN5 | c.-32C= (n.-32C=) c.116C= (p.Ser39=) | |
| 13 | g.76992067C>G | CA313858 | CLN5 | c.-32C>G (n.-32C>G) c.116C>G (p.Ser39Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.76992067C>T | CA7007093 | CLN5 | c.-32C>T (n.-32C>T) c.116C>T (p.Ser39Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 13 | g.76992068G>A | CA484334655 | CLN5 | c.-31G>A (n.-31G>A) c.117G>A (p.Ser39=) | ClinVar gnomAD v4 |
| 13 | g.76992068G>C | CA7007094 | CLN5 | c.-31G>C (n.-31G>C) c.117G>C (p.Ser39=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.76992068G= | CA2103418042 | CLN5 | c.-31G= (n.-31G=) c.117G= (p.Ser39=) | |
| 13 | g.76992068G>T | CA484334656 | CLN5 | c.-31G>T (n.-31G>T) c.117G>T (p.Ser39=) | ClinVar dbSNP gnomAD v4 |
| 13 | g.76992069A>C | CA484334657 | CLN5 | c.-30A>C (n.-30A>C) c.118A>C (p.Arg40=) | |
| 13 | g.76992069A>G | CA388306064 | CLN5 | c.-30A>G (n.-30A>G) c.118A>G (p.Arg40Gly) | gnomAD v4 |
| 13 | g.76992069A>T | CA388306067 | CLN5 | c.-30A>T (n.-30A>T) c.118A>T (p.Arg40Ter) | |
| 13 | g.76992070G>A | CA388306069 | CLN5 | c.-29G>A (n.-29G>A) c.119G>A (p.Arg40Lys) | |
| 13 | g.76992070G>C | CA388306071 | CLN5 | c.-29G>C (n.-29G>C) c.119G>C (p.Arg40Thr) | |
| 13 | g.76992070G>T | CA388306074 | CLN5 | c.-29G>T (n.-29G>T) c.119G>T (p.Arg40Ile) | gnomAD v4 |
| 13 | g.76992071A= | CA2103418047 | CLN5 | c.-28A= (n.-28A=) c.120A= (p.Arg40=) | |
| 13 | g.76992071A>C | CA388306076 | CLN5 | c.-28A>C (n.-28A>C) c.120A>C (p.Arg40Ser) | |
| 13 | g.76992071A>G | CA484334658 | CLN5 | c.-28A>G (n.-28A>G) c.120A>G (p.Arg40=) | ClinVar dbSNP |
| 13 | g.76992071A>T | CA388306078 | CLN5 | c.-28A>T (n.-28A>T) c.120A>T (p.Arg40Ser) | |
| 13 | g.76992072G>A | CA388306080 | CLN5 | c.-27G>A (n.-27G>A) c.121G>A (p.Gly41Ser) | gnomAD v4 |
| 13 | g.76992072G>C | CA388306082 | CLN5 | c.-27G>C (n.-27G>C) c.121G>C (p.Gly41Arg) | |
| 13 | g.76992072G>T | CA388306084 | CLN5 | c.-27G>T (n.-27G>T) c.121G>T (p.Gly41Cys) | |
| 13 | g.76992073G>A | CA388306090 | CLN5 | c.-26G>A (n.-26G>A) c.122G>A (p.Gly41Asp) | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.76992073G>C | CA388306088 | CLN5 | c.-26G>C (n.-26G>C) c.122G>C (p.Gly41Ala) | |
| 13 | g.76992073G= | CA2103418050 | CLN5 | c.-26G= (n.-26G=) c.122G= (p.Gly41=) | |
| 13 | g.76992073G>T | CA388306086 | CLN5 | c.-26G>T (n.-26G>T) c.122G>T (p.Gly41Val) | |
| 13 | g.76992074C>A | CA484334660 | CLN5 | c.-25C>A (n.-25C>A) c.123C>A (p.Gly41=) | |
| 13 | g.76992074C>G | CA484334661 | CLN5 | c.-25C>G (n.-25C>G) c.123C>G (p.Gly41=) | |
| 13 | g.76992074C>T | CA484334659 | CLN5 | c.-25C>T (n.-25C>T) c.123C>T (p.Gly41=) | |
| 13 | g.76992075T>A | CA388306092 | CLN5 | c.-24T>A (n.-24T>A) c.124T>A (p.Ser42Thr) | dbSNP gnomAD v2 |
| 13 | g.76992075T>C | CA388306094 | CLN5 | c.-24T>C (n.-24T>C) c.124T>C (p.Ser42Pro) | |
| 13 | g.76992075T>G | CA388306095 | CLN5 | c.-24T>G (n.-24T>G) c.124T>G (p.Ser42Ala) | |
| 13 | g.76992075T= | CA2103418055 | CLN5 | c.-24T= (n.-24T=) c.124T= (p.Ser42=) | |
| 13 | g.76992076C>A | CA388306097 | CLN5 | c.-23C>A (n.-23C>A) c.125C>A (p.Ser42Tyr) | gnomAD v4 |
| 13 | g.76992076C= | CA2103418066 | CLN5 | c.-23C= (n.-23C=) c.125C= (p.Ser42=) | |
| 13 | g.76992076C>G | CA252175619 | CLN5 | c.-23C>G (n.-23C>G) c.125C>G (p.Ser42Cys) | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.76992076C>T | CA388306100 | CLN5 | c.-23C>T (n.-23C>T) c.125C>T (p.Ser42Phe) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.76992077C>A | CA7007095 | CLN5 | c.-22C>A (n.-22C>A) c.126C>A (p.Ser42=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.76992077C= | CA2103418072 | CLN5 | c.-22C= (n.-22C=) c.126C= (p.Ser42=) | |
| 13 | g.76992077C>G | CA484334662 | CLN5 | c.-22C>G (n.-22C>G) c.126C>G (p.Ser42=) | |
| 13 | g.76992077C>T | CA484334663 | CLN5 | c.-22C>T (n.-22C>T) c.126C>T (p.Ser42=) | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.76992077_76992078delinsCG | CA2103418069 | CLN5 | c.-22_-21delinsCG (n.-22_-21delinsCG) c.126_127delinsCG (p.Ser42=) | |
| 13 | g.76992078G>A | CA313903 | CLN5 | c.-21G>A (n.-21G>A) c.127G>A (p.Gly43Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.76992078G>C | CA388306103 | CLN5 | c.-21G>C (n.-21G>C) c.127G>C (p.Gly43Arg) | |
| 13 | g.76992078G= | CA2103418087 | CLN5 | c.-21G= (n.-21G=) c.127G= (p.Gly43=) | |
| 13 | g.76992078G>T | CA388306104 | CLN5 | c.-21G>T (n.-21G>T) c.127G>T (p.Gly43Ter) | |
| 13 | g.76992079del | CA7007096 | CLN5 | c.-20del (n.-20del) c.128del (p.Gly43GlufsTer7) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.76992079G>A | CA388306107 | CLN5 | c.-20G>A (n.-20G>A) c.128G>A (p.Gly43Glu) | dbSNP gnomAD v2 |
| 13 | g.76992079G>C | CA388306109 | CLN5 | c.-20G>C (n.-20G>C) c.128G>C (p.Gly43Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.76992079G= | CA2103418092 | CLN5 | c.-20G= (n.-20G=) c.128G= (p.Gly43=) | |
| 13 | g.76992079G>T | CA388306110 | CLN5 | c.-20G>T (n.-20G>T) c.128G>T (p.Gly43Val) | |
| 13 | g.76992080A= | CA2103418097 | CLN5 | c.-19A= (n.-19A=) c.129A= (p.Gly43=) | |
| 13 | g.76992080A>C | CA484334664 | CLN5 | c.-19A>C (n.-19A>C) c.129A>C (p.Gly43=) | |
| 13 | g.76992080A>G | CA484334665 | CLN5 | c.-19A>G (n.-19A>G) c.129A>G (p.Gly43=) | ClinVar gnomAD v4 |
| 13 | g.76992080A>T | CA484334666 | CLN5 | c.-19A>T (n.-19A>T) c.129A>T (p.Gly43=) | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.76992081A>C | CA388306116 | CLN5 | c.-18A>C (n.-18A>C) c.130A>C (p.Ser44Arg) | |
| 13 | g.76992081A>G | CA388306112 | CLN5 | c.-18A>G (n.-18A>G) c.130A>G (p.Ser44Gly) | gnomAD v4 |
| 13 | g.76992081A>T | CA388306114 | CLN5 | c.-18A>T (n.-18A>T) c.130A>T (p.Ser44Cys) | |
| 13 | g.76992082G>A | CA388306117 | CLN5 | c.-17G>A (n.-17G>A) c.131G>A (p.Ser44Asn) | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.76992082G>C | CA388306119 | CLN5 | c.-17G>C (n.-17G>C) c.131G>C (p.Ser44Thr) | |
| 13 | g.76992082G= | CA2103418101 | CLN5 | c.-17G= (n.-17G=) c.131G= (p.Ser44=) | |
| 13 | g.76992082G>T | CA388306121 | CLN5 | c.-17G>T (n.-17G>T) c.131G>T (p.Ser44Ile) | |
| 13 | g.76992083T>A | CA388306123 | CLN5 | c.-16T>A (n.-16T>A) c.132T>A (p.Ser44Arg) | |
| 13 | g.76992083T>C | CA484334667 | CLN5 | c.-16T>C (n.-16T>C) c.132T>C (p.Ser44=) | |
| 13 | g.76992083T>G | CA388306124 | CLN5 | c.-16T>G (n.-16T>G) c.132T>G (p.Ser44Arg) | |
| 13 | g.76992084A>C | CA388306126 | CLN5 | c.-15A>C (n.-15A>C) c.133A>C (p.Thr45Pro) | |
| 13 | g.76992084A>G | CA388306128 | CLN5 | c.-15A>G (n.-15A>G) c.133A>G (p.Thr45Ala) | |
| 13 | g.76992084A>T | CA388306130 | CLN5 | c.-15A>T (n.-15A>T) c.133A>T (p.Thr45Ser) | |
| 13 | g.76992085C>A | CA388306132 | CLN5 | c.-14C>A (n.-14C>A) c.134C>A (p.Thr45Asn) | |
| 13 | g.76992085C= | CA2103418105 | CLN5 | c.-14C= (n.-14C=) c.134C= (p.Thr45=) | |
| 13 | g.76992085C>G | CA388306134 | CLN5 | c.-14C>G (n.-14C>G) c.134C>G (p.Thr45Ser) | |
| 13 | g.76992085C>T | CA313906 | CLN5 | c.-14C>T (n.-14C>T) c.134C>T (p.Thr45Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.76992086T>A | CA484334668 | CLN5 | c.-13T>A (n.-13T>A) c.135T>A (p.Thr45=) | |
| 13 | g.76992086T>C | CA484334669 | CLN5 | c.-13T>C (n.-13T>C) c.135T>C (p.Thr45=) | ClinVar dbSNP gnomAD v4 |
| 13 | g.76992086T>G | CA484334670 | CLN5 | c.-13T>G (n.-13T>G) c.135T>G (p.Thr45=) | |
| 13 | g.76992086T= | CA2103418112 | CLN5 | c.-13T= (n.-13T=) c.135T= (p.Thr45=) | |
| 13 | g.76992087G>A | CA388306141 | CLN5 | c.-12G>A (n.-12G>A) c.136G>A (p.Gly46Arg) | |
| 13 | g.76992087G>C | CA388306140 | CLN5 | c.-12G>C (n.-12G>C) c.136G>C (p.Gly46Arg) | |
| 13 | g.76992087G>T | CA388306138 | CLN5 | c.-12G>T (n.-12G>T) c.136G>T (p.Gly46Trp) | |
| 13 | g.76992089del | CA2799793057 | CLN5 | c.-10del (n.-10del) c.138del (p.Cys47AlafsTer3) | |
| 13 | g.76992088G>A | CA388306143 | CLN5 | c.-11G>A (n.-11G>A) c.137G>A (p.Gly46Glu) | ClinVar dbSNP |
| 13 | g.76992088G>C | CA7007097 | CLN5 | c.-11G>C (n.-11G>C) c.137G>C (p.Gly46Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.76992088G= | CA2103418117 | CLN5 | c.-11G= (n.-11G=) c.137G= (p.Gly46=) | |
| 13 | g.76992088G>T | CA388306146 | CLN5 | c.-11G>T (n.-11G>T) c.137G>T (p.Gly46Val) | |
| 13 | g.76992089G>A | CA484334671 | CLN5 | c.-10G>A (n.-10G>A) n.1G>A c.138G>A (p.Gly46=) | dbSNP |
| 13 | g.76992089G>C | CA484334672 | CLN5 | c.-10G>C (n.-10G>C) n.1G>C c.138G>C (p.Gly46=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.76992089G= | CA2103418122 | CLN5 | c.-10G= (n.-10G=) n.1G= c.138G= (p.Gly46=) | |
| 13 | g.76992089G>T | CA484334673 | CLN5 | c.-10G>T (n.-10G>T) n.1G>T c.138G>T (p.Gly46=) | |
| 13 | g.76992090T>A | CA388306148 | CLN5 | c.-9T>A (n.-9T>A) n.2T>A c.139T>A (p.Cys47Ser) | |
| 13 | g.76992090T>C | CA388306150 | CLN5 | c.-9T>C (n.-9T>C) n.2T>C c.139T>C (p.Cys47Arg) | |
| 13 | g.76992090T>G | CA388306151 | CLN5 | c.-9T>G (n.-9T>G) n.2T>G c.139T>G (p.Cys47Gly) | |
| 13 | g.76992091G>A | CA7007098 | CLN5 | c.-8G>A (n.-8G>A) n.3G>A c.140G>A (p.Cys47Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.76992091G>C | CA388306154 | CLN5 | c.-8G>C (n.-8G>C) n.3G>C c.140G>C (p.Cys47Ser) | |
| 13 | g.76992091G= | CA2103418129 | CLN5 | c.-8G= (n.-8G=) n.3G= c.140G= (p.Cys47=) | |
| 13 | g.76992091G>T | CA388306156 | CLN5 | c.-8G>T (n.-8G>T) n.3G>T c.140G>T (p.Cys47Phe) | |
| 13 | g.76992092C>A | CA388306158 | CLN5 | c.-7C>A (n.-7C>A) n.4C>A c.141C>A (p.Cys47Ter) | ClinVar dbSNP |
| 13 | g.76992092C= | CA2103418136 | CLN5 | c.-7C= (n.-7C=) n.4C= c.141C= (p.Cys47=) | |
| 13 | g.76992092C>G | CA388306160 | CLN5 | c.-7C>G (n.-7C>G) n.4C>G c.141C>G (p.Cys47Trp) | |
| 13 | g.76992092C>T | CA484334674 | CLN5 | c.-7C>T (n.-7C>T) n.4C>T c.141C>T (p.Cys47=) | ClinVar gnomAD v4 |
| 13 | g.76992093A= | CA2103418140 | CLN5 | c.-6A= (n.-6A=) n.5A= c.142A= (p.Ser48=) | |
| 13 | g.76992093A>C | CA7007099 | CLN5 | c.-6A>C (n.-6A>C) n.5A>C c.142A>C (p.Ser48Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.76992093A>G | CA388306163 | CLN5 | c.-6A>G (n.-6A>G) n.5A>G c.142A>G (p.Ser48Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.76992093A>T | CA388306165 | CLN5 | c.-6A>T (n.-6A>T) n.5A>T c.142A>T (p.Ser48Cys) | |
| 13 | g.76992094G>A | CA388306171 | CLN5 | c.-5G>A (n.-5G>A) n.6G>A c.143G>A (p.Ser48Asn) | |
| 13 | g.76992094G>C | CA388306169 | CLN5 | c.-5G>C (n.-5G>C) n.6G>C c.143G>C (p.Ser48Thr) | |
| 13 | g.76992094G= | CA2103418144 | CLN5 | c.-5G= (n.-5G=) n.6G= c.143G= (p.Ser48=) | |
| 13 | g.76992094G>T | CA388306168 | CLN5 | c.-5G>T (n.-5G>T) n.6G>T c.143G>T (p.Ser48Ile) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 13 | g.76992095C>A | CA388306173 | CLN5 | c.-4C>A (n.-4C>A) n.7C>A c.144C>A (p.Ser48Arg) | |
| 13 | g.76992095C= | CA2103418151 | CLN5 | c.-4C= (n.-4C=) n.7C= c.144C= (p.Ser48=) | |
| 13 | g.76992095C>G | CA388306175 | CLN5 | c.-4C>G (n.-4C>G) n.7C>G c.144C>G (p.Ser48Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.76992095C>T | CA290137 | CLN5 | c.-4C>T (n.-4C>T) n.7C>T c.144C>T (p.Ser48=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.76992096del | CA2623294720 | CLN5 | c.-3del (n.-3del) n.8del c.145del (p.Leu49Ter) | gnomAD v4 |
| 13 | g.76992096C>A | CA388306177 | CLN5 | c.-3C>A (n.-3C>A) n.8C>A c.145C>A (p.Leu49Met) | |
| 13 | g.76992096C= | CA2103418156 | CLN5 | c.-3C= (n.-3C=) n.8C= c.145C= (p.Leu49=) | |
| 13 | g.76992096C>G | CA388306179 | CLN5 | c.-3C>G (n.-3C>G) n.8C>G c.145C>G (p.Leu49Val) | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.76992096C>T | CA484334675 | CLN5 | c.-3C>T (n.-3C>T) n.8C>T c.145C>T (p.Leu49=) | ClinVar dbSNP gnomAD v4 |
| 13 | g.76992097T>A | CA388306181 | CLN5 | c.-2T>A (n.-2T>A) n.9T>A c.146T>A (p.Leu49Gln) | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.76992097T>C | CA388306183 | CLN5 | c.-2T>C (n.-2T>C) n.9T>C c.146T>C (p.Leu49Pro) | gnomAD v4 |
| 13 | g.76992097T>G | CA7007100 | CLN5 | c.-2T>G (n.-2T>G) n.9T>G c.146T>G (p.Leu49Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.76992097T= | CA2103418159 | CLN5 | c.-2T= (n.-2T=) n.9T= c.146T= (p.Leu49=) | |
| 13 | g.76992098G>A | CA484334676 | CLN5 | c.-1G>A (n.-1G>A) n.1G>A n.10G>A c.147G>A (p.Leu49=) | dbSNP |
| 13 | g.76992098G>C | CA484334677 | CLN5 | c.-1G>C (n.-1G>C) n.1G>C n.10G>C c.147G>C (p.Leu49=) | ClinVar dbSNP |
| 13 | g.76992098G>T | CA484334678 | CLN5 | c.-1G>T (n.-1G>T) n.1G>T n.10G>T c.147G>T (p.Leu49=) | |
| 13 | g.76992099A= | CA2103418165 | CLN5 | c.1A= (p.Met1=) n.2A= n.11A= c.148A= (p.Met50=) | |
| 13 | g.76992099A>C | CA388306185 | CLN5 | c.1A>C (p.Met1Leu) n.2A>C n.11A>C c.148A>C (p.Met50Leu) | |
| 13 | g.76992099A>G | CA252175631 | CLN5 | c.1A>G (p.Met1Val) n.2A>G n.11A>G c.148A>G (p.Met50Val) | dbSNP gnomAD v4 |
| 13 | g.76992099A>T | CA252175633 | CLN5 | c.1A>T (p.Met1Leu) n.2A>T n.11A>T c.148A>T (p.Met50Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.76992100T>A | CA388306186 | CLN5 | c.2T>A (p.Met1Lys) n.3T>A n.12T>A c.149T>A (p.Met50Lys) | |
| 13 | g.76992100T>C | CA388306188 | CLN5 | c.2T>C (p.Met1Thr) n.3T>C n.12T>C c.149T>C (p.Met50Thr) | dbSNP |
| 13 | g.76992100T>G | CA388306190 | CLN5 | c.2T>G (p.Met1Arg) n.3T>G n.12T>G c.149T>G (p.Met50Arg) | |
| 13 | g.76992100T= | CA2103418172 | CLN5 | c.2T= (p.Met1=) n.3T= n.12T= c.149T= (p.Met50=) | |
| 13 | g.76992101G>A | CA388306193 | CLN5 | c.3G>A (p.Met1Ile) n.4G>A n.13G>A c.150G>A (p.Met50Ile) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.76992101G>C | CA388306195 | CLN5 | c.3G>C (p.Met1Ile) n.4G>C n.13G>C c.150G>C (p.Met50Ile) | |
| 13 | g.76992101G= | CA2103418177 | CLN5 | c.3G= (p.Met1=) n.4G= n.13G= c.150G= (p.Met50=) | |
| 13 | g.76992101G>T | CA388306191 | CLN5 | c.3G>T (p.Met1Ile) n.4G>T n.13G>T c.150G>T (p.Met50Ile) | |
| 13 | g.76992104_76992121dup | CA2623294721 | CLN5 | c.6_23dup (p.Ala8_Gln9insGlnGluValAspThrAla) n.7_24dup n.16_33dup c.153_170dup (p.Ala57_Gln58insGlnGluValAspThrAla) | gnomAD v4 |
| 13 | g.76992106_76992130dup | CA2623294722 | CLN5 | c.8_32dup (p.Glu12GlyfsTer?) n.9_33dup n.18_42dup c.155_179dup (p.Glu61GlyfsTer?) | gnomAD v4 |
| 13 | g.76992102G>A | CA388306196 | CLN5 | c.4G>A (p.Ala2Thr) n.5G>A n.14G>A c.151G>A (p.Ala51Thr) | |
| 13 | g.76992102G>C | CA388306197 | CLN5 | c.4G>C (p.Ala2Pro) n.5G>C n.14G>C c.151G>C (p.Ala51Pro) | |
| 13 | g.76992102G>T | CA388306199 | CLN5 | c.4G>T (p.Ala2Ser) n.5G>T n.14G>T c.151G>T (p.Ala51Ser) | gnomAD v4 |
| 13 | g.76992103C>A | CA388306202 | CLN5 | c.5C>A (p.Ala2Glu) n.6C>A n.15C>A c.152C>A (p.Ala51Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.76992103C= | CA2103418182 | CLN5 | c.5C= (p.Ala2=) n.6C= n.15C= c.152C= (p.Ala51=) | |
| 13 | g.76992103C>G | CA388306204 | CLN5 | c.5C>G (p.Ala2Gly) n.6C>G n.15C>G c.152C>G (p.Ala51Gly) | |
| 13 | g.76992103C>T | CA313861 | CLN5 | c.5C>T (p.Ala2Val) n.6C>T n.15C>T c.152C>T (p.Ala51Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.76992104G>A | CA484334679 | CLN5 | c.6G>A (p.Ala2=) n.7G>A n.16G>A c.153G>A (p.Ala51=) | dbSNP gnomAD v4 |
| 13 | g.76992104G>C | CA484334680 | CLN5 | c.6G>C (p.Ala2=) n.7G>C n.16G>C c.153G>C (p.Ala51=) | |
| 13 | g.76992104G= | CA2103418185 | CLN5 | c.6G= (p.Ala2=) n.7G= n.16G= c.153G= (p.Ala51=) | |
| 13 | g.76992104G>T | CA484334681 | CLN5 | c.6G>T (p.Ala2=) n.7G>T n.16G>T c.153G>T (p.Ala51=) | ClinVar dbSNP gnomAD v4 |
| 13 | g.76992105C>A | CA388306210 | CLN5 | c.7C>A (p.Gln3Lys) n.8C>A n.17C>A c.154C>A (p.Gln52Lys) | |
| 13 | g.76992105C>G | CA388306207 | CLN5 | c.7C>G (p.Gln3Glu) n.8C>G n.17C>G c.154C>G (p.Gln52Glu) | |
| 13 | g.76992105C>T | CA388306208 | CLN5 | c.7C>T (p.Gln3Ter) n.8C>T n.17C>T c.154C>T (p.Gln52Ter) | |
| 13 | g.76992106A= | CA2103418187 | CLN5 | c.8A= (p.Gln3=) n.9A= n.18A= c.155A= (p.Gln52=) | |
| 13 | g.76992106A>C | CA388306213 | CLN5 | c.8A>C (p.Gln3Pro) n.9A>C n.18A>C c.155A>C (p.Gln52Pro) | |
| 13 | g.76992106A>G | CA388306215 | CLN5 | c.8A>G (p.Gln3Arg) n.9A>G n.18A>G c.155A>G (p.Gln52Arg) | |
| 13 | g.76992106A>T | CA7007101 | CLN5 | c.8A>T (p.Gln3Leu) n.9A>T n.18A>T c.155A>T (p.Gln52Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.76992107G>A | CA484334682 | CLN5 | c.9G>A (p.Gln3=) n.10G>A n.19G>A c.156G>A (p.Gln52=) | |
| 13 | g.76992107G>C | CA388306217 | CLN5 | c.9G>C (p.Gln3His) n.10G>C n.19G>C c.156G>C (p.Gln52His) | |
| 13 | g.76992107G>T | CA388306218 | CLN5 | c.9G>T (p.Gln3His) n.10G>T n.19G>T c.156G>T (p.Gln52His) | gnomAD v4 |
| 13 | g.76992108G>A | CA388306219 | CLN5 | c.10G>A (p.Glu4Lys) n.11G>A n.20G>A c.157G>A (p.Glu53Lys) | |
| 13 | g.76992108G>C | CA388306223 | CLN5 | c.10G>C (p.Glu4Gln) n.11G>C n.20G>C c.157G>C (p.Glu53Gln) | |
| 13 | g.76992108G>T | CA388306221 | CLN5 | c.10G>T (p.Glu4Ter) n.11G>T n.20G>T c.157G>T (p.Glu53Ter) | |
| 13 | g.76992109A>C | CA388306225 | CLN5 | c.11A>C (p.Glu4Ala) n.12A>C n.21A>C c.158A>C (p.Glu53Ala) | ClinVar |
| 13 | g.76992109A>G | CA388306227 | CLN5 | c.11A>G (p.Glu4Gly) n.12A>G n.21A>G c.158A>G (p.Glu53Gly) | |
| 13 | g.76992109A>T | CA388306229 | CLN5 | c.11A>T (p.Glu4Val) n.12A>T n.21A>T c.158A>T (p.Glu53Val) | |
| 13 | g.76992110G>A | CA484334683 | CLN5 | c.12G>A (p.Glu4=) n.13G>A n.22G>A c.159G>A (p.Glu53=) | |
| 13 | g.76992110G>C | CA388306231 | CLN5 | c.12G>C (p.Glu4Asp) n.13G>C n.22G>C c.159G>C (p.Glu53Asp) | ClinVar gnomAD v4 |
| 13 | g.76992110G>T | CA388306233 | CLN5 | c.12G>T (p.Glu4Asp) n.13G>T n.22G>T c.159G>T (p.Glu53Asp) | |
| 13 | g.76992111G>A | CA16619819 | CLN5 | c.13G>A (p.Val5Ile) n.14G>A n.23G>A c.160G>A (p.Val54Ile) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.76992111G>C | CA388306235 | CLN5 | c.13G>C (p.Val5Leu) n.14G>C n.23G>C c.160G>C (p.Val54Leu) | |
| 13 | g.76992111G= | CA2103418195 | CLN5 | c.13G= (p.Val5=) n.14G= n.23G= c.160G= (p.Val54=) | |
| 13 | g.76992111G>T | CA388306238 | CLN5 | c.13G>T (p.Val5Leu) n.14G>T n.23G>T c.160G>T (p.Val54Leu) | |
| 13 | g.76992112T>A | CA388306240 | CLN5 | c.14T>A (p.Val5Glu) n.15T>A n.24T>A c.161T>A (p.Val54Glu) | |
| 13 | g.76992112T>C | CA388306241 | CLN5 | c.14T>C (p.Val5Ala) n.15T>C n.24T>C c.161T>C (p.Val54Ala) | |
| 13 | g.76992112T>G | CA388306244 | CLN5 | c.14T>G (p.Val5Gly) n.15T>G n.24T>G c.161T>G (p.Val54Gly) | |
| 13 | g.76992113A= | CA2103418200 | CLN5 | c.15A= (p.Val5=) n.16A= n.25A= c.162A= (p.Val54=) | |
| 13 | g.76992113A>C | CA484334684 | CLN5 | c.15A>C (p.Val5=) n.16A>C n.25A>C c.162A>C (p.Val54=) | |
| 13 | g.76992113A>G | CA484334685 | CLN5 | c.15A>G (p.Val5=) n.16A>G n.25A>G c.162A>G (p.Val54=) | ClinVar dbSNP gnomAD v4 |
| 13 | g.76992113A>T | CA484334686 | CLN5 | c.15A>T (p.Val5=) n.16A>T n.25A>T c.162A>T (p.Val54=) | |
| 13 | g.76992114G>A | CA388306245 | CLN5 | c.16G>A (p.Asp6Asn) n.17G>A n.26G>A c.163G>A (p.Asp55Asn) | |
| 13 | g.76992114G>C | CA388306249 | CLN5 | c.16G>C (p.Asp6His) n.17G>C n.26G>C c.163G>C (p.Asp55His) | gnomAD v4 |
| 13 | g.76992114G>T | CA388306247 | CLN5 | c.16G>T (p.Asp6Tyr) n.17G>T n.26G>T c.163G>T (p.Asp55Tyr) | gnomAD v4 |
| 13 | g.76992115del | CA2623294728 | CLN5 | c.17del (p.Asp6AlafsTer?) n.18del n.27del c.164del (p.Asp55AlafsTer?) | gnomAD v4 |
| 13 | g.76992115A= | CA2103418203 | CLN5 | c.17A= (p.Asp6=) n.18A= n.27A= c.164A= (p.Asp55=) | |
| 13 | g.76992115A>C | CA388306251 | CLN5 | c.17A>C (p.Asp6Ala) n.18A>C n.27A>C c.164A>C (p.Asp55Ala) | |
| 13 | g.76992115A>G | CA7007102 | CLN5 | c.17A>G (p.Asp6Gly) n.18A>G n.27A>G c.164A>G (p.Asp55Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.76992115A>T | CA388306253 | CLN5 | c.17A>T (p.Asp6Val) n.18A>T n.27A>T c.164A>T (p.Asp55Val) | |
| 13 | g.76992115_76992116delinsAC | CA2103418209 | CLN5 | c.17_18delinsAC (p.Asp6=) n.18_19delinsAC n.27_28delinsAC c.164_165delinsAC (p.Asp55=) | |
| 13 | g.76992117_76992118del | CA912974888 | CLN5 | c.19_20del (p.Thr7GlyfsTer?) n.20_21del n.29_30del c.166_167del (p.Thr56GlyfsTer?) | |
| 13 | g.76992116del | CA658823719 | CLN5 | c.18del (p.Asp6GlufsTer?) n.19del n.28del c.165del (p.Asp55GlufsTer?) c.1del | ClinVar dbSNP |
| 13 | g.76992116C>A | CA388306256 | CLN5 | c.18C>A (p.Asp6Glu) n.19C>A n.28C>A c.165C>A (p.Asp55Glu) c.1C>A | gnomAD v4 |
| 13 | g.76992116C= | CA2103418219 | CLN5 | c.18C= (p.Asp6=) n.19C= n.28C= c.165C= (p.Asp55=) c.1C= | |
| 13 | g.76992116C>G | CA388306258 | CLN5 | c.18C>G (p.Asp6Glu) n.19C>G n.28C>G c.165C>G (p.Asp55Glu) c.1C>G | |
| 13 | g.76992116C>T | CA484334687 | CLN5 | c.18C>T (p.Asp6=) n.19C>T n.28C>T c.165C>T (p.Asp55=) c.1C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.76992117A= | CA2103418231 | CLN5 | c.19A= (p.Thr7=) n.20A= n.29A= c.166A= (p.Thr56=) c.2A= | |
| 13 | g.76992117A>C | CA388306260 | CLN5 | c.19A>C (p.Thr7Pro) n.20A>C n.29A>C c.166A>C (p.Thr56Pro) c.2A>C | |
| 13 | g.76992117A>G | CA7007103 | CLN5 | c.19A>G (p.Thr7Ala) n.20A>G n.29A>G c.166A>G (p.Thr56Ala) c.2A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.76992117A>T | CA388306263 | CLN5 | c.19A>T (p.Thr7Ser) n.20A>T n.29A>T c.166A>T (p.Thr56Ser) c.2A>T | ClinVar dbSNP gnomAD v4 |
| 13 | g.76992118C>A | CA7007104 | CLN5 | c.20C>A (p.Thr7Lys) n.21C>A n.30C>A c.167C>A (p.Thr56Lys) c.3C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.76992118C= | CA2103418241 | CLN5 | c.20C= (p.Thr7=) n.21C= n.30C= c.167C= (p.Thr56=) c.3C= | |
| 13 | g.76992118C>G | CA388306267 | CLN5 | c.20C>G (p.Thr7Arg) n.21C>G n.30C>G c.167C>G (p.Thr56Arg) c.3C>G | dbSNP gnomAD v4 |
| 13 | g.76992118C>T | CA388306269 | CLN5 | c.20C>T (p.Thr7Met) n.21C>T n.30C>T c.167C>T (p.Thr56Met) c.3C>T | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.76992119_76992121del | CA2799793058 | CLN5 | c.21_23del (p.Ala8del) n.22_24del n.31_33del c.168_170del (p.Ala57del) c.4_6del | |
| 13 | g.76992119G>A | CA16606867 | CLN5 | c.21G>A (p.Thr7=) n.22G>A n.31G>A c.168G>A (p.Thr56=) c.4G>A | ClinVar dbSNP gnomAD v4 |
| 13 | g.76992119G>C | CA16606868 | CLN5 | c.21G>C (p.Thr7=) n.22G>C n.31G>C c.168G>C (p.Thr56=) c.4G>C | ClinVar dbSNP gnomAD v4 COSMIC |
| 13 | g.76992119G= | CA2103418276 | CLN5 | c.21G= (p.Thr7=) n.22G= n.31G= c.168G= (p.Thr56=) c.4G= | |
| 13 | g.76992119G>T | CA484334688 | CLN5 | c.21G>T (p.Thr7=) n.22G>T n.31G>T c.168G>T (p.Thr56=) c.4G>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.76992120G>A | CA388306271 | CLN5 | c.22G>A (p.Ala8Thr) n.23G>A n.32G>A c.169G>A (p.Ala57Thr) c.5G>A | gnomAD v4 |
| 13 | g.76992120G>C | CA388306273 | CLN5 | c.22G>C (p.Ala8Pro) n.23G>C n.32G>C c.169G>C (p.Ala57Pro) c.5G>C | |
| 13 | g.76992120G>T | CA388306275 | CLN5 | c.22G>T (p.Ala8Ser) n.23G>T n.32G>T c.169G>T (p.Ala57Ser) c.5G>T | |
| 13 | g.76992121C>A | CA388306282 | CLN5 | c.23C>A (p.Ala8Glu) n.24C>A n.33C>A c.170C>A (p.Ala57Glu) c.6C>A | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.76992121C= | CA2103418289 | CLN5 | c.23C= (p.Ala8=) n.24C= n.33C= c.170C= (p.Ala57=) c.6C= | |
| 13 | g.76992121C>G | CA388306278 | CLN5 | c.23C>G (p.Ala8Gly) n.24C>G n.33C>G c.170C>G (p.Ala57Gly) c.6C>G | |
| 13 | g.76992121C>T | CA388306279 | CLN5 | c.23C>T (p.Ala8Val) n.24C>T n.33C>T c.170C>T (p.Ala57Val) c.6C>T | |
| 13 | g.76992122A= | CA2103418292 | CLN5 | c.24A= (p.Ala8=) n.25A= n.34A= c.171A= (p.Ala57=) c.7A= | |
| 13 | g.76992122A>C | CA484334689 | CLN5 | c.24A>C (p.Ala8=) n.25A>C n.34A>C c.171A>C (p.Ala57=) c.7A>C | ClinVar dbSNP |
| 13 | g.76992122A>G | CA7007105 | CLN5 | c.24A>G (p.Ala8=) n.25A>G n.34A>G c.171A>G (p.Ala57=) c.7A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.76992122A>T | CA484334690 | CLN5 | c.24A>T (p.Ala8=) n.25A>T n.34A>T c.171A>T (p.Ala57=) c.7A>T | gnomAD v4 |
| 13 | g.76992123C>A | CA388306285 | CLN5 | c.25C>A (p.Gln9Lys) n.26C>A n.35C>A c.172C>A (p.Gln58Lys) c.8C>A | |
| 13 | g.76992123C>G | CA388306287 | CLN5 | c.25C>G (p.Gln9Glu) n.26C>G n.35C>G c.172C>G (p.Gln58Glu) c.8C>G | gnomAD v4 |
| 13 | g.76992123C>T | CA388306289 | CLN5 | c.25C>T (p.Gln9Ter) n.26C>T n.35C>T c.172C>T (p.Gln58Ter) c.8C>T | |
| 13 | g.76992124A= | CA2103418300 | CLN5 | c.26A= (p.Gln9=) n.27A= n.36A= c.173A= (p.Gln58=) c.9A= | |
| 13 | g.76992124A>C | CA388306291 | CLN5 | c.26A>C (p.Gln9Pro) n.27A>C n.36A>C c.173A>C (p.Gln58Pro) c.9A>C | gnomAD v4 |
| 13 | g.76992124A>G | CA388306293 | CLN5 | c.26A>G (p.Gln9Arg) n.27A>G n.36A>G c.173A>G (p.Gln58Arg) c.9A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 13 | g.76992124A>T | CA388306295 | CLN5 | c.26A>T (p.Gln9Leu) n.27A>T n.36A>T c.173A>T (p.Gln58Leu) c.9A>T | dbSNP gnomAD v4 |
| 13 | g.76992124dup | CA912974889 | CLN5 | c.26dup (p.Ala11ArgfsTer?) n.27dup n.36dup c.173dup (p.Ala60ArgfsTer?) c.9dup | |
| 13 | g.76992125G>A | CA7007106 | CLN5 | c.27G>A (p.Gln9=) n.28G>A n.37G>A c.174G>A (p.Gln58=) c.10G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.76992125G>C | CA388306298 | CLN5 | c.27G>C (p.Gln9His) n.28G>C n.37G>C c.174G>C (p.Gln58His) c.10G>C | |
| 13 | g.76992125G= | CA2103418317 | CLN5 | c.27G= (p.Gln9=) n.28G= n.37G= c.174G= (p.Gln58=) c.10G= | |
| 13 | g.76992125G>T | CA388306300 | CLN5 | c.27G>T (p.Gln9His) n.28G>T n.37G>T c.174G>T (p.Gln58His) c.10G>T | gnomAD v4 |
| 13 | g.76992131_76992148dup | CA658823720 | CLN5 | c.33_50dup (p.Ala17_Gly18insGluMetArgArgGlyAla) n.34_51dup n.43_60dup c.180_197dup (p.Ala66_Gly67insGluMetArgArgGlyAla) c.16_33dup | ClinVar dbSNP |
| 13 | g.76992126G>A | CA7007107 | CLN5 | c.28G>A (p.Gly10Ser) n.29G>A n.38G>A c.175G>A (p.Gly59Ser) c.11G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.76992126G>C | CA388306305 | CLN5 | c.28G>C (p.Gly10Arg) n.29G>C n.38G>C c.175G>C (p.Gly59Arg) c.11G>C | |
| 13 | g.76992126G= | CA2103418321 | CLN5 | c.28G= (p.Gly10=) n.29G= n.38G= c.175G= (p.Gly59=) c.11G= | |
| 13 | g.76992126G>T | CA388306303 | CLN5 | c.28G>T (p.Gly10Cys) n.29G>T n.38G>T c.175G>T (p.Gly59Cys) c.11G>T | |
| 13 | g.76992127G>A | CA388306307 | CLN5 | c.29G>A (p.Gly10Asp) n.30G>A n.39G>A c.176G>A (p.Gly59Asp) c.12G>A | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.76992127G>C | CA388306309 | CLN5 | c.29G>C (p.Gly10Ala) n.30G>C n.39G>C c.176G>C (p.Gly59Ala) c.12G>C | |
| 13 | g.76992127G= | CA2103418325 | CLN5 | c.29G= (p.Gly10=) n.30G= n.39G= c.176G= (p.Gly59=) c.12G= | |
| 13 | g.76992127G>T | CA388306311 | CLN5 | c.29G>T (p.Gly10Val) n.30G>T n.39G>T c.176G>T (p.Gly59Val) c.12G>T | |
| 13 | g.76992128C>A | CA484334691 | CLN5 | c.30C>A (p.Gly10=) n.31C>A n.40C>A c.177C>A (p.Gly59=) c.13C>A | ClinVar dbSNP gnomAD v4 |
| 13 | g.76992128C= | CA2103418327 | CLN5 | c.30C= (p.Gly10=) n.31C= n.40C= c.177C= (p.Gly59=) c.13C= | |
| 13 | g.76992128C>G | CA484334692 | CLN5 | c.30C>G (p.Gly10=) n.31C>G n.40C>G c.177C>G (p.Gly59=) c.13C>G | ClinVar dbSNP |
| 13 | g.76992128C>T | CA7007108 | CLN5 | c.30C>T (p.Gly10=) n.31C>T n.40C>T c.177C>T (p.Gly59=) c.13C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.76992129G>A | CA388306314 | CLN5 | c.31G>A (p.Ala11Thr) n.32G>A n.41G>A c.178G>A (p.Ala60Thr) c.14G>A | gnomAD v4 |
| 13 | g.76992129G>C | CA388306316 | CLN5 | c.31G>C (p.Ala11Pro) n.32G>C n.41G>C c.178G>C (p.Ala60Pro) c.14G>C | |
| 13 | g.76992129G= | CA2103418333 | CLN5 | c.31G= (p.Ala11=) n.32G= n.41G= c.178G= (p.Ala60=) c.14G= | |
| 13 | g.76992129G>T | CA7007109 | CLN5 | c.31G>T (p.Ala11Ser) n.32G>T n.41G>T c.178G>T (p.Ala60Ser) c.14G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.76992130C>A | CA388306319 | CLN5 | c.32C>A (p.Ala11Asp) n.33C>A n.42C>A c.179C>A (p.Ala60Asp) c.15C>A | gnomAD v4 |
| 13 | g.76992130C= | CA2103418336 | CLN5 | c.32C= (p.Ala11=) n.33C= n.42C= c.179C= (p.Ala60=) c.15C= | |
| 13 | g.76992130C>G | CA388306321 | CLN5 | c.32C>G (p.Ala11Gly) n.33C>G n.42C>G c.179C>G (p.Ala60Gly) c.15C>G | |
| 13 | g.76992130C>T | CA388306323 | CLN5 | c.32C>T (p.Ala11Val) n.33C>T n.42C>T c.179C>T (p.Ala60Val) c.15C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.76992131C>A | CA484334693 | CLN5 | c.33C>A (p.Ala11=) n.34C>A n.43C>A c.180C>A (p.Ala60=) c.16C>A | |
| 13 | g.76992131C= | CA2103418344 | CLN5 | c.33C= (p.Ala11=) n.34C= n.43C= c.180C= (p.Ala60=) c.16C= | |
| 13 | g.76992131C>G | CA7007110 | CLN5 | c.33C>G (p.Ala11=) n.34C>G n.43C>G c.180C>G (p.Ala60=) c.16C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.76992131C>T | CA7007111 | CLN5 | c.33C>T (p.Ala11=) n.34C>T n.43C>T c.180C>T (p.Ala60=) c.16C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.76992132G>A | CA388306329 | CLN5 | c.34G>A (p.Glu12Lys) n.35G>A n.44G>A c.181G>A (p.Glu61Lys) c.17G>A | |
| 13 | g.76992132G>C | CA388306330 | CLN5 | c.34G>C (p.Glu12Gln) n.35G>C n.44G>C c.181G>C (p.Glu61Gln) c.17G>C | |
| 13 | g.76992132G>T | CA388306327 | CLN5 | c.34G>T (p.Glu12Ter) n.35G>T n.44G>T c.181G>T (p.Glu61Ter) c.17G>T | ClinVar gnomAD v4 |
| 13 | g.76992133A>C | CA388306332 | CLN5 | c.35A>C (p.Glu12Ala) n.36A>C n.45A>C c.182A>C (p.Glu61Ala) c.18A>C | |
| 13 | g.76992133A>G | CA388306334 | CLN5 | c.35A>G (p.Glu12Gly) n.36A>G n.45A>G c.182A>G (p.Glu61Gly) c.18A>G | |
| 13 | g.76992133A>T | CA388306336 | CLN5 | c.35A>T (p.Glu12Val) n.36A>T n.45A>T c.182A>T (p.Glu61Val) c.18A>T | |
| 13 | g.76992134G>A | CA484334694 | CLN5 | c.36G>A (p.Glu12=) n.37G>A n.46G>A c.183G>A (p.Glu61=) c.19G>A | dbSNP gnomAD v2 |
| 13 | g.76992134G>C | CA7007112 | CLN5 | c.36G>C (p.Glu12Asp) n.37G>C n.46G>C c.183G>C (p.Glu61Asp) c.19G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.76992134G= | CA2103418356 | CLN5 | c.36G= (p.Glu12=) n.37G= n.46G= c.183G= (p.Glu61=) c.19G= | |
| 13 | g.76992134G>T | CA7007113 | CLN5 | c.36G>T (p.Glu12Asp) n.37G>T n.46G>T c.183G>T (p.Glu61Asp) c.19G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.76992135A= | CA2103418360 | CLN5 | c.37A= (p.Met13=) n.38A= n.47A= c.184A= (p.Met62=) c.20A= | |
| 13 | g.76992135A>C | CA388306344 | CLN5 | c.37A>C (p.Met13Leu) n.38A>C n.47A>C c.184A>C (p.Met62Leu) c.20A>C | |
| 13 | g.76992135A>G | CA388306341 | CLN5 | c.37A>G (p.Met13Val) n.38A>G n.47A>G c.184A>G (p.Met62Val) c.20A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.76992135A>T | CA388306342 | CLN5 | c.37A>T (p.Met13Leu) n.38A>T n.47A>T c.184A>T (p.Met62Leu) c.20A>T | gnomAD v4 |
| 13 | g.76992136T>A | CA388306346 | CLN5 | c.38T>A (p.Met13Lys) n.39T>A n.48T>A c.185T>A (p.Met62Lys) c.21T>A | gnomAD v4 |
| 13 | g.76992136T>C | CA252175652 | CLN5 | c.38T>C (p.Met13Thr) n.39T>C n.48T>C c.185T>C (p.Met62Thr) c.21T>C | ClinVar dbSNP |
| 13 | g.76992136T>G | CA388306348 | CLN5 | c.38T>G (p.Met13Arg) n.39T>G n.48T>G c.185T>G (p.Met62Arg) c.21T>G | |
| 13 | g.76992136T= | CA2103418364 | CLN5 | c.38T= (p.Met13=) n.39T= n.48T= c.185T= (p.Met62=) c.21T= | |
| 13 | g.76992137G>A | CA388306350 | CLN5 | c.39G>A (p.Met13Ile) n.40G>A n.49G>A c.186G>A (p.Met62Ile) c.22G>A | |
| 13 | g.76992137G>C | CA388306352 | CLN5 | c.39G>C (p.Met13Ile) n.40G>C n.49G>C c.186G>C (p.Met62Ile) c.22G>C | |
| 13 | g.76992137G>T | CA388306354 | CLN5 | c.39G>T (p.Met13Ile) n.40G>T n.49G>T c.186G>T (p.Met62Ile) c.22G>T | gnomAD v4 |
| 13 | g.76992138C>A | CA484334695 | CLN5 | c.40C>A (p.Arg14=) n.41C>A n.50C>A c.187C>A (p.Arg63=) c.23C>A | |
| 13 | g.76992138C>G | CA388306355 | CLN5 | c.40C>G (p.Arg14Gly) n.41C>G n.50C>G c.187C>G (p.Arg63Gly) c.23C>G | |
| 13 | g.76992138C>T | CA388306356 | CLN5 | c.40C>T (p.Arg14Trp) n.41C>T n.50C>T c.187C>T (p.Arg63Trp) c.23C>T | gnomAD v4 |
| 13 | g.76992139G>A | CA388306358 | CLN5 | c.41G>A (p.Arg14Gln) n.42G>A n.51G>A c.188G>A (p.Arg63Gln) c.24G>A | |
| 13 | g.76992139G>C | CA388306361 | CLN5 | c.41G>C (p.Arg14Pro) n.42G>C n.51G>C c.188G>C (p.Arg63Pro) c.24G>C | |
| 13 | g.76992139G= | CA2103418366 | CLN5 | c.41G= (p.Arg14=) n.42G= n.51G= c.188G= (p.Arg63=) c.24G= | |
| 13 | g.76992139G>T | CA388306360 | CLN5 | c.41G>T (p.Arg14Leu) n.42G>T n.51G>T c.188G>T (p.Arg63Leu) c.24G>T | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.76992140del | CA2580087752 | CLN5 | c.42del (p.Arg15GlyfsTer?) n.43del n.52del c.189del (p.Arg64GlyfsTer?) c.25del | ClinVar |
| 13 | g.76992140G>A | CA7007114 | CLN5 | c.42G>A (p.Arg14=) n.43G>A n.52G>A c.189G>A (p.Arg63=) c.25G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.76992140G>C | CA484334696 | CLN5 | c.42G>C (p.Arg14=) n.43G>C n.52G>C c.189G>C (p.Arg63=) c.25G>C | |
| 13 | g.76992140G= | CA2103418368 | CLN5 | c.42G= (p.Arg14=) n.43G= n.52G= c.189G= (p.Arg63=) c.25G= | |
| 13 | g.76992140G>T | CA484334697 | CLN5 | c.42G>T (p.Arg14=) n.43G>T n.52G>T c.189G>T (p.Arg63=) c.25G>T | |
| 13 | g.76992141C>A | CA7007115 | CLN5 | c.43C>A (p.Arg15=) n.44C>A n.53C>A c.190C>A (p.Arg64=) c.26C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.76992141C= | CA2103418369 | CLN5 | c.43C= (p.Arg15=) n.44C= n.53C= c.190C= (p.Arg64=) c.26C= | |
| 13 | g.76992141C>G | CA388306366 | CLN5 | c.43C>G (p.Arg15Gly) n.44C>G n.53C>G c.190C>G (p.Arg64Gly) c.26C>G | |
| 13 | g.76992141C>T | CA388306367 | CLN5 | c.43C>T (p.Arg15Trp) n.44C>T n.53C>T c.190C>T (p.Arg64Trp) c.26C>T | ClinVar dbSNP gnomAD v4 |
| 13 | g.76992142G>A | CA388306370 | CLN5 | c.44G>A (p.Arg15Gln) n.45G>A n.54G>A c.191G>A (p.Arg64Gln) c.27G>A | gnomAD v4 COSMIC |
| 13 | g.76992142G>C | CA388306371 | CLN5 | c.44G>C (p.Arg15Pro) n.45G>C n.54G>C c.191G>C (p.Arg64Pro) c.27G>C | |
| 13 | g.76992142G= | CA2103418370 | CLN5 | c.44G= (p.Arg15=) n.45G= n.54G= c.191G= (p.Arg64=) c.27G= | |
| 13 | g.76992142G>T | CA388306373 | CLN5 | c.44G>T (p.Arg15Leu) n.45G>T n.54G>T c.191G>T (p.Arg64Leu) c.27G>T | gnomAD v4 |
| 13 | g.76992143G>A | CA484334698 | CLN5 | c.45G>A (p.Arg15=) n.46G>A n.55G>A c.192G>A (p.Arg64=) c.28G>A | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.76992143G>C | CA484334699 | CLN5 | c.45G>C (p.Arg15=) n.46G>C n.55G>C c.192G>C (p.Arg64=) c.28G>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.76992143G= | CA2103418371 | CLN5 | c.45G= (p.Arg15=) n.46G= n.55G= c.192G= (p.Arg64=) c.28G= | |
| 13 | g.76992143G>T | CA484334700 | CLN5 | c.45G>T (p.Arg15=) n.46G>T n.55G>T c.192G>T (p.Arg64=) c.28G>T | gnomAD v4 |
| 13 | g.76992151_76992156dup | CA313864 | CLN5 | c.53_58dup (p.Ala19_Ala20insGlyAla) n.54_59dup n.63_68dup c.200_205dup (p.Ala68_Ala69insGlyAla) c.36_41dup | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.76992143_76992159delinsGGGCGCGGGCGCGGCTC | CA2103418373 | CLN5 | c.45_61delinsGGGCGCGGGCGCGGCTC (p.Arg15=) n.46_62delinsGGGCGCGGGCGCGGCTC n.55_71delinsGGGCGCGGGCGCGGCTC c.192_208delinsGGGCGCGGGCGCGGCTC (p.Arg64=) c.28_44delinsGGGCGCGGGCGCGGCTC | |
| 13 | g.76992144G>A | CA7007116 | CLN5 | c.46G>A (p.Gly16Ser) n.47G>A n.56G>A c.193G>A (p.Gly65Ser) c.29G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.76992144G>C | CA388306379 | CLN5 | c.46G>C (p.Gly16Arg) n.47G>C n.56G>C c.193G>C (p.Gly65Arg) c.29G>C | gnomAD v4 |
| 13 | g.76992144G= | CA2103418383 | CLN5 | c.46G= (p.Gly16=) n.47G= n.56G= c.193G= (p.Gly65=) c.29G= | |
| 13 | g.76992144G>T | CA388306381 | CLN5 | c.46G>T (p.Gly16Cys) n.47G>T n.56G>T c.193G>T (p.Gly65Cys) c.29G>T | gnomAD v4 |
| 13 | g.76992146_76992161del | CA2103418380 | CLN5 | c.48_63del (p.Ala17AspfsTer?) n.49_64del n.58_73del c.195_210del (p.Ala66AspfsTer?) c.31_46del | dbSNP |
| 13 | g.76992145G>A | CA388306383 | CLN5 | c.47G>A (p.Gly16Asp) n.48G>A n.57G>A c.194G>A (p.Gly65Asp) c.30G>A | |
| 13 | g.76992145G>C | CA388306384 | CLN5 | c.47G>C (p.Gly16Ala) n.48G>C n.57G>C c.194G>C (p.Gly65Ala) c.30G>C | |
| 13 | g.76992145G>T | CA388306385 | CLN5 | c.47G>T (p.Gly16Val) n.48G>T n.57G>T c.194G>T (p.Gly65Val) c.30G>T | |
| 13 | g.76992146C>A | CA484334701 | CLN5 | c.48C>A (p.Gly16=) n.49C>A n.58C>A c.195C>A (p.Gly65=) c.31C>A | ClinVar |
| 13 | g.76992146C= | CA2103418410 | CLN5 | c.48C= (p.Gly16=) n.49C= n.58C= c.195C= (p.Gly65=) c.31C= | |
| 13 | g.76992146C>G | CA484334702 | CLN5 | c.48C>G (p.Gly16=) n.49C>G n.58C>G c.195C>G (p.Gly65=) c.31C>G | ClinVar dbSNP gnomAD v4 |
| 13 | g.76992146C>T | CA484334703 | CLN5 | c.48C>T (p.Gly16=) n.49C>T n.58C>T c.195C>T (p.Gly65=) c.31C>T | ClinVar dbSNP gnomAD v4 |
| 13 | g.76992147G>A | CA388306392 | CLN5 | c.49G>A (p.Ala17Thr) n.50G>A n.59G>A c.196G>A (p.Ala66Thr) c.32G>A | |
| 13 | g.76992147G>C | CA388306388 | CLN5 | c.49G>C (p.Ala17Pro) n.50G>C n.59G>C c.196G>C (p.Ala66Pro) c.32G>C | |
| 13 | g.76992147G>T | CA388306390 | CLN5 | c.49G>T (p.Ala17Ser) n.50G>T n.59G>T c.196G>T (p.Ala66Ser) c.32G>T | gnomAD v4 |
| 13 | g.76992148C>A | CA388306394 | CLN5 | c.50C>A (p.Ala17Glu) n.51C>A n.60C>A c.197C>A (p.Ala66Glu) c.33C>A | |
| 13 | g.76992148C= | CA2103418416 | CLN5 | c.50C= (p.Ala17=) n.51C= n.60C= c.197C= (p.Ala66=) c.33C= | |
| 13 | g.76992148C>G | CA388306396 | CLN5 | c.50C>G (p.Ala17Gly) n.51C>G n.60C>G c.197C>G (p.Ala66Gly) c.33C>G | |
| 13 | g.76992148C>T | CA388306397 | CLN5 | c.50C>T (p.Ala17Val) n.51C>T n.60C>T c.197C>T (p.Ala66Val) c.33C>T | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.76992149G>A | CA484334704 | CLN5 | c.51G>A (p.Ala17=) n.52G>A n.61G>A c.198G>A (p.Ala66=) c.34G>A | ClinVar gnomAD v4 |
| 13 | g.76992149G>C | CA484334705 | CLN5 | c.51G>C (p.Ala17=) n.52G>C n.61G>C c.198G>C (p.Ala66=) c.34G>C | |
| 13 | g.76992149G>T | CA484334706 | CLN5 | c.51G>T (p.Ala17=) n.52G>T n.61G>T c.198G>T (p.Ala66=) c.34G>T | gnomAD v4 |
| 13 | g.76992150G>A | CA388306400 | CLN5 | c.52G>A (p.Gly18Ser) n.53G>A n.62G>A c.199G>A (p.Gly67Ser) c.35G>A | dbSNP |
| 13 | g.76992150G>C | CA388306402 | CLN5 | c.52G>C (p.Gly18Arg) n.53G>C n.62G>C c.199G>C (p.Gly67Arg) c.35G>C | |
| 13 | g.76992150G= | CA2103418421 | CLN5 | c.52G= (p.Gly18=) n.53G= n.62G= c.199G= (p.Gly67=) c.35G= | |
| 13 | g.76992150G>T | CA388306403 | CLN5 | c.52G>T (p.Gly18Cys) n.53G>T n.62G>T c.199G>T (p.Gly67Cys) c.35G>T | |
| 13 | g.76992151G>A | CA7007117 | CLN5 | c.53G>A (p.Gly18Asp) n.54G>A n.63G>A c.200G>A (p.Gly67Asp) c.36G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.76992151G>C | CA388306406 | CLN5 | c.53G>C (p.Gly18Ala) n.54G>C n.63G>C c.200G>C (p.Gly67Ala) c.36G>C | |
| 13 | g.76992151G= | CA2103418426 | CLN5 | c.53G= (p.Gly18=) n.54G= n.63G= c.200G= (p.Gly67=) c.36G= | |
| 13 | g.76992151G>T | CA388306408 | CLN5 | c.53G>T (p.Gly18Val) n.54G>T n.63G>T c.200G>T (p.Gly67Val) c.36G>T | |
| 13 | g.76992152C>A | CA484334707 | CLN5 | c.54C>A (p.Gly18=) n.55C>A n.64C>A c.201C>A (p.Gly67=) c.37C>A | gnomAD v4 |
| 13 | g.76992152C>G | CA484334708 | CLN5 | c.54C>G (p.Gly18=) n.55C>G n.64C>G c.201C>G (p.Gly67=) c.37C>G | gnomAD v4 |
| 13 | g.76992152C>T | CA484334709 | CLN5 | c.54C>T (p.Gly18=) n.55C>T n.64C>T c.201C>T (p.Gly67=) c.37C>T | ClinVar gnomAD v4 |
| 13 | g.76992153G>A | CA388306411 | CLN5 | c.55G>A (p.Ala19Thr) n.56G>A n.65G>A c.202G>A (p.Ala68Thr) c.38G>A | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.76992153G>C | CA388306412 | CLN5 | c.55G>C (p.Ala19Pro) n.56G>C n.65G>C c.202G>C (p.Ala68Pro) c.38G>C | |
| 13 | g.76992153G= | CA2103418431 | CLN5 | c.55G= (p.Ala19=) n.56G= n.65G= c.202G= (p.Ala68=) c.38G= | |
| 13 | g.76992153G>T | CA388306414 | CLN5 | c.55G>T (p.Ala19Ser) n.56G>T n.65G>T c.202G>T (p.Ala68Ser) c.38G>T | gnomAD v4 |
| 13 | g.76992154C>A | CA388306417 | CLN5 | c.56C>A (p.Ala19Glu) n.57C>A n.66C>A c.203C>A (p.Ala68Glu) c.39C>A | gnomAD v4 |
| 13 | g.76992154C= | CA2103418436 | CLN5 | c.56C= (p.Ala19=) n.57C= n.66C= c.203C= (p.Ala68=) c.39C= | |
| 13 | g.76992154C>G | CA388306419 | CLN5 | c.56C>G (p.Ala19Gly) n.57C>G n.66C>G c.203C>G (p.Ala68Gly) c.39C>G | |
| 13 | g.76992154C>T | CA388306418 | CLN5 | c.56C>T (p.Ala19Val) n.57C>T n.66C>T c.203C>T (p.Ala68Val) c.39C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.76992155G>A | CA484334710 | CLN5 | c.57G>A (p.Ala19=) n.58G>A n.67G>A c.204G>A (p.Ala68=) c.40G>A | |
| 13 | g.76992155G>C | CA484334711 | CLN5 | c.57G>C (p.Ala19=) n.58G>C n.67G>C c.204G>C (p.Ala68=) c.40G>C | |
| 13 | g.76992155G= | CA2103418444 | CLN5 | c.57G= (p.Ala19=) n.58G= n.67G= c.204G= (p.Ala68=) c.40G= | |
| 13 | g.76992155G>T | CA484334712 | CLN5 | c.57G>T (p.Ala19=) n.58G>T n.67G>T c.204G>T (p.Ala68=) c.40G>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.76992156G>A | CA388306421 | CLN5 | c.58G>A (p.Ala20Thr) n.59G>A n.68G>A c.205G>A (p.Ala69Thr) c.41G>A | gnomAD v4 |
| 13 | g.76992156G>C | CA388306422 | CLN5 | c.58G>C (p.Ala20Pro) n.59G>C n.68G>C c.205G>C (p.Ala69Pro) c.41G>C | |
| 13 | g.76992156G>T | CA388306424 | CLN5 | c.58G>T (p.Ala20Ser) n.59G>T n.68G>T c.205G>T (p.Ala69Ser) c.41G>T | |
| 13 | g.76992157C>A | CA388306426 | CLN5 | c.59C>A (p.Ala20Asp) n.60C>A n.69C>A c.206C>A (p.Ala69Asp) c.42C>A | gnomAD v4 |
| 13 | g.76992157C= | CA2103418451 | CLN5 | c.59C= (p.Ala20=) n.60C= n.69C= c.206C= (p.Ala69=) c.42C= | |
| 13 | g.76992157C>G | CA388306428 | CLN5 | c.59C>G (p.Ala20Gly) n.60C>G n.69C>G c.206C>G (p.Ala69Gly) c.42C>G | |
| 13 | g.76992157C>T | CA252175659 | CLN5 | c.59C>T (p.Ala20Val) n.60C>T n.69C>T c.206C>T (p.Ala69Val) c.42C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.76992158T>A | CA484334713 | CLN5 | c.60T>A (p.Ala20=) n.61T>A n.70T>A c.207T>A (p.Ala69=) c.43T>A | |
| 13 | g.76992158T>C | CA484334715 | CLN5 | c.60T>C (p.Ala20=) n.61T>C n.70T>C c.207T>C (p.Ala69=) c.43T>C | |
| 13 | g.76992158T>G | CA484334714 | CLN5 | c.60T>G (p.Ala20=) n.61T>G n.70T>G c.207T>G (p.Ala69=) c.43T>G | |
| 13 | g.76992159C>A | CA484334716 | CLN5 | c.61C>A (p.Arg21=) n.62C>A n.71C>A c.208C>A (p.Arg70=) c.44C>A | |
| 13 | g.76992159C= | CA2103418464 | CLN5 | c.61C= (p.Arg21=) n.62C= n.71C= c.208C= (p.Arg70=) c.44C= | |
| 13 | g.76992159C>G | CA388306430 | CLN5 | c.61C>G (p.Arg21Gly) n.62C>G n.71C>G c.208C>G (p.Arg70Gly) c.44C>G | |
| 13 | g.76992159C>T | CA313909 | CLN5 | c.61C>T (p.Arg21Trp) n.62C>T n.71C>T c.208C>T (p.Arg70Trp) c.44C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |