Chr Mutation (hg38) CAid Gene Transcript Linkouts
13g.76992041_76992352delCA2573149748CLN5c.-58_173+81del
c.90_320+81del
 ClinVar dbSNP
13g.76992063_76992082delCA2623294708CLN5c.-36_-17del (n.-36_-17del)
c.112_131del (p.Ala38TyrfsTer?)
 gnomAD v4
13g.76992075T>ACA388306092CLN5c.-24T>A (n.-24T>A)
c.124T>A (p.Ser42Thr)
 dbSNP gnomAD v2
13g.76992075T>CCA388306094CLN5c.-24T>C (n.-24T>C)
c.124T>C (p.Ser42Pro)
13g.76992075T>GCA388306095CLN5c.-24T>G (n.-24T>G)
c.124T>G (p.Ser42Ala)
13g.76992075T=CA2103418055CLN5c.-24T= (n.-24T=)
c.124T= (p.Ser42=)
13g.76992076C>ACA388306097CLN5c.-23C>A (n.-23C>A)
c.125C>A (p.Ser42Tyr)
 gnomAD v4
13g.76992076C=CA2103418066CLN5c.-23C= (n.-23C=)
c.125C= (p.Ser42=)
13g.76992076C>GCA252175619CLN5c.-23C>G (n.-23C>G)
c.125C>G (p.Ser42Cys)
 dbSNP gnomAD v3 gnomAD v4
13g.76992076C>TCA388306100CLN5c.-23C>T (n.-23C>T)
c.125C>T (p.Ser42Phe)
 ClinVar dbSNP gnomAD v3 gnomAD v4
13g.76992077C>ACA7007095CLN5c.-22C>A (n.-22C>A)
c.126C>A (p.Ser42=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.76992077C=CA2103418072CLN5c.-22C= (n.-22C=)
c.126C= (p.Ser42=)
13g.76992077C>GCA484334662CLN5c.-22C>G (n.-22C>G)
c.126C>G (p.Ser42=)
13g.76992077C>TCA484334663CLN5c.-22C>T (n.-22C>T)
c.126C>T (p.Ser42=)
 dbSNP gnomAD v3 gnomAD v4
13g.76992077_76992078delinsCGCA2103418069CLN5c.-22_-21delinsCG (n.-22_-21delinsCG)
c.126_127delinsCG (p.Ser42=)
13g.76992078G>ACA313903CLN5c.-21G>A (n.-21G>A)
c.127G>A (p.Gly43Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.76992078G>CCA388306103CLN5c.-21G>C (n.-21G>C)
c.127G>C (p.Gly43Arg)
13g.76992078G=CA2103418087CLN5c.-21G= (n.-21G=)
c.127G= (p.Gly43=)
13g.76992078G>TCA388306104CLN5c.-21G>T (n.-21G>T)
c.127G>T (p.Gly43Ter)
13g.76992079delCA7007096CLN5c.-20del (n.-20del)
c.128del (p.Gly43GlufsTer7)
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.76992079G>ACA388306107CLN5c.-20G>A (n.-20G>A)
c.128G>A (p.Gly43Glu)
 dbSNP gnomAD v2
13g.76992079G>CCA388306109CLN5c.-20G>C (n.-20G>C)
c.128G>C (p.Gly43Ala)
 dbSNP gnomAD v2 gnomAD v4
13g.76992079G=CA2103418092CLN5c.-20G= (n.-20G=)
c.128G= (p.Gly43=)
13g.76992079G>TCA388306110CLN5c.-20G>T (n.-20G>T)
c.128G>T (p.Gly43Val)
13g.76992080A=CA2103418097CLN5c.-19A= (n.-19A=)
c.129A= (p.Gly43=)
13g.76992080A>CCA484334664CLN5c.-19A>C (n.-19A>C)
c.129A>C (p.Gly43=)
13g.76992080A>GCA484334665CLN5c.-19A>G (n.-19A>G)
c.129A>G (p.Gly43=)
 ClinVar gnomAD v4
13g.76992080A>TCA484334666CLN5c.-19A>T (n.-19A>T)
c.129A>T (p.Gly43=)
 dbSNP gnomAD v3 gnomAD v4
13g.76992081A>CCA388306116CLN5c.-18A>C (n.-18A>C)
c.130A>C (p.Ser44Arg)
13g.76992081A>GCA388306112CLN5c.-18A>G (n.-18A>G)
c.130A>G (p.Ser44Gly)
 gnomAD v4
13g.76992081A>TCA388306114CLN5c.-18A>T (n.-18A>T)
c.130A>T (p.Ser44Cys)
13g.76992082G>ACA388306117CLN5c.-17G>A (n.-17G>A)
c.131G>A (p.Ser44Asn)
 dbSNP gnomAD v3 gnomAD v4
13g.76992082G>CCA388306119CLN5c.-17G>C (n.-17G>C)
c.131G>C (p.Ser44Thr)
13g.76992082G=CA2103418101CLN5c.-17G= (n.-17G=)
c.131G= (p.Ser44=)
13g.76992082G>TCA388306121CLN5c.-17G>T (n.-17G>T)
c.131G>T (p.Ser44Ile)
13g.76992083T>ACA388306123CLN5c.-16T>A (n.-16T>A)
c.132T>A (p.Ser44Arg)
13g.76992083T>CCA484334667CLN5c.-16T>C (n.-16T>C)
c.132T>C (p.Ser44=)
13g.76992083T>GCA388306124CLN5c.-16T>G (n.-16T>G)
c.132T>G (p.Ser44Arg)
13g.76992084A>CCA388306126CLN5c.-15A>C (n.-15A>C)
c.133A>C (p.Thr45Pro)
13g.76992084A>GCA388306128CLN5c.-15A>G (n.-15A>G)
c.133A>G (p.Thr45Ala)
13g.76992084A>TCA388306130CLN5c.-15A>T (n.-15A>T)
c.133A>T (p.Thr45Ser)
13g.76992085C>ACA388306132CLN5c.-14C>A (n.-14C>A)
c.134C>A (p.Thr45Asn)
13g.76992085C=CA2103418105CLN5c.-14C= (n.-14C=)
c.134C= (p.Thr45=)
13g.76992085C>GCA388306134CLN5c.-14C>G (n.-14C>G)
c.134C>G (p.Thr45Ser)
13g.76992085C>TCA313906CLN5c.-14C>T (n.-14C>T)
c.134C>T (p.Thr45Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
13g.76992086T>ACA484334668CLN5c.-13T>A (n.-13T>A)
c.135T>A (p.Thr45=)
13g.76992086T>CCA484334669CLN5c.-13T>C (n.-13T>C)
c.135T>C (p.Thr45=)
 ClinVar dbSNP gnomAD v4
13g.76992086T>GCA484334670CLN5c.-13T>G (n.-13T>G)
c.135T>G (p.Thr45=)
13g.76992086T=CA2103418112CLN5c.-13T= (n.-13T=)
c.135T= (p.Thr45=)
13g.76992087G>ACA388306141CLN5c.-12G>A (n.-12G>A)
c.136G>A (p.Gly46Arg)
13g.76992087G>CCA388306140CLN5c.-12G>C (n.-12G>C)
c.136G>C (p.Gly46Arg)
13g.76992087G>TCA388306138CLN5c.-12G>T (n.-12G>T)
c.136G>T (p.Gly46Trp)
13g.76992089delCA2799793057CLN5c.-10del (n.-10del)
c.138del (p.Cys47AlafsTer3)
13g.76992088G>ACA388306143CLN5c.-11G>A (n.-11G>A)
c.137G>A (p.Gly46Glu)
 ClinVar dbSNP
13g.76992088G>CCA7007097CLN5c.-11G>C (n.-11G>C)
c.137G>C (p.Gly46Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.76992088G=CA2103418117CLN5c.-11G= (n.-11G=)
c.137G= (p.Gly46=)
13g.76992088G>TCA388306146CLN5c.-11G>T (n.-11G>T)
c.137G>T (p.Gly46Val)
13g.76992089G>ACA484334671CLN5c.-10G>A (n.-10G>A)
n.1G>A
c.138G>A (p.Gly46=)
 dbSNP
13g.76992089G>CCA484334672CLN5c.-10G>C (n.-10G>C)
n.1G>C
c.138G>C (p.Gly46=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
13g.76992089G=CA2103418122CLN5c.-10G= (n.-10G=)
n.1G=
c.138G= (p.Gly46=)
13g.76992089G>TCA484334673CLN5c.-10G>T (n.-10G>T)
n.1G>T
c.138G>T (p.Gly46=)
13g.76992090T>ACA388306148CLN5c.-9T>A (n.-9T>A)
n.2T>A
c.139T>A (p.Cys47Ser)
13g.76992090T>CCA388306150CLN5c.-9T>C (n.-9T>C)
n.2T>C
c.139T>C (p.Cys47Arg)
13g.76992090T>GCA388306151CLN5c.-9T>G (n.-9T>G)
n.2T>G
c.139T>G (p.Cys47Gly)
13g.76992091G>ACA7007098CLN5c.-8G>A (n.-8G>A)
n.3G>A
c.140G>A (p.Cys47Tyr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.76992091G>CCA388306154CLN5c.-8G>C (n.-8G>C)
n.3G>C
c.140G>C (p.Cys47Ser)
13g.76992091G=CA2103418129CLN5c.-8G= (n.-8G=)
n.3G=
c.140G= (p.Cys47=)
13g.76992091G>TCA388306156CLN5c.-8G>T (n.-8G>T)
n.3G>T
c.140G>T (p.Cys47Phe)
13g.76992092C>ACA388306158CLN5c.-7C>A (n.-7C>A)
n.4C>A
c.141C>A (p.Cys47Ter)
 ClinVar dbSNP
13g.76992092C=CA2103418136CLN5c.-7C= (n.-7C=)
n.4C=
c.141C= (p.Cys47=)
13g.76992092C>GCA388306160CLN5c.-7C>G (n.-7C>G)
n.4C>G
c.141C>G (p.Cys47Trp)
13g.76992092C>TCA484334674CLN5c.-7C>T (n.-7C>T)
n.4C>T
c.141C>T (p.Cys47=)
 ClinVar gnomAD v4
13g.76992093A=CA2103418140CLN5c.-6A= (n.-6A=)
n.5A=
c.142A= (p.Ser48=)
13g.76992093A>CCA7007099CLN5c.-6A>C (n.-6A>C)
n.5A>C
c.142A>C (p.Ser48Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.76992093A>GCA388306163CLN5c.-6A>G (n.-6A>G)
n.5A>G
c.142A>G (p.Ser48Gly)
 dbSNP gnomAD v3 gnomAD v4
13g.76992093A>TCA388306165CLN5c.-6A>T (n.-6A>T)
n.5A>T
c.142A>T (p.Ser48Cys)
13g.76992094G>ACA388306171CLN5c.-5G>A (n.-5G>A)
n.6G>A
c.143G>A (p.Ser48Asn)
13g.76992094G>CCA388306169CLN5c.-5G>C (n.-5G>C)
n.6G>C
c.143G>C (p.Ser48Thr)
13g.76992094G=CA2103418144CLN5c.-5G= (n.-5G=)
n.6G=
c.143G= (p.Ser48=)
13g.76992094G>TCA388306168CLN5c.-5G>T (n.-5G>T)
n.6G>T
c.143G>T (p.Ser48Ile)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
13g.76992095C>ACA388306173CLN5c.-4C>A (n.-4C>A)
n.7C>A
c.144C>A (p.Ser48Arg)
13g.76992095C=CA2103418151CLN5c.-4C= (n.-4C=)
n.7C=
c.144C= (p.Ser48=)
13g.76992095C>GCA388306175CLN5c.-4C>G (n.-4C>G)
n.7C>G
c.144C>G (p.Ser48Arg)
 dbSNP gnomAD v2 gnomAD v4
13g.76992095C>TCA290137CLN5c.-4C>T (n.-4C>T)
n.7C>T
c.144C>T (p.Ser48=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.76992096delCA2623294720CLN5c.-3del (n.-3del)
n.8del
c.145del (p.Leu49Ter)
 gnomAD v4
13g.76992096C>ACA388306177CLN5c.-3C>A (n.-3C>A)
n.8C>A
c.145C>A (p.Leu49Met)
13g.76992096C=CA2103418156CLN5c.-3C= (n.-3C=)
n.8C=
c.145C= (p.Leu49=)
13g.76992096C>GCA388306179CLN5c.-3C>G (n.-3C>G)
n.8C>G
c.145C>G (p.Leu49Val)
 dbSNP gnomAD v3 gnomAD v4
13g.76992096C>TCA484334675CLN5c.-3C>T (n.-3C>T)
n.8C>T
c.145C>T (p.Leu49=)
 ClinVar dbSNP gnomAD v4
13g.76992097T>ACA388306181CLN5c.-2T>A (n.-2T>A)
n.9T>A
c.146T>A (p.Leu49Gln)
 dbSNP gnomAD v3 gnomAD v4
13g.76992097T>CCA388306183CLN5c.-2T>C (n.-2T>C)
n.9T>C
c.146T>C (p.Leu49Pro)
 gnomAD v4
13g.76992097T>GCA7007100CLN5c.-2T>G (n.-2T>G)
n.9T>G
c.146T>G (p.Leu49Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.76992097T=CA2103418159CLN5c.-2T= (n.-2T=)
n.9T=
c.146T= (p.Leu49=)
13g.76992098G>ACA484334676CLN5c.-1G>A (n.-1G>A)
n.1G>A
n.10G>A
c.147G>A (p.Leu49=)
 dbSNP
13g.76992098G>CCA484334677CLN5c.-1G>C (n.-1G>C)
n.1G>C
n.10G>C
c.147G>C (p.Leu49=)
 ClinVar dbSNP
13g.76992098G>TCA484334678CLN5c.-1G>T (n.-1G>T)
n.1G>T
n.10G>T
c.147G>T (p.Leu49=)
13g.76992099A=CA2103418165CLN5c.1A= (p.Met1=)
n.2A=
n.11A=
c.148A= (p.Met50=)
13g.76992099A>CCA388306185CLN5c.1A>C (p.Met1Leu)
n.2A>C
n.11A>C
c.148A>C (p.Met50Leu)
13g.76992099A>GCA252175631CLN5c.1A>G (p.Met1Val)
n.2A>G
n.11A>G
c.148A>G (p.Met50Val)
 dbSNP gnomAD v4
13g.76992099A>TCA252175633CLN5c.1A>T (p.Met1Leu)
n.2A>T
n.11A>T
c.148A>T (p.Met50Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.76992100T>ACA388306186CLN5c.2T>A (p.Met1Lys)
n.3T>A
n.12T>A
c.149T>A (p.Met50Lys)
13g.76992100T>CCA388306188CLN5c.2T>C (p.Met1Thr)
n.3T>C
n.12T>C
c.149T>C (p.Met50Thr)
 dbSNP
13g.76992100T>GCA388306190CLN5c.2T>G (p.Met1Arg)
n.3T>G
n.12T>G
c.149T>G (p.Met50Arg)
13g.76992100T=CA2103418172CLN5c.2T= (p.Met1=)
n.3T=
n.12T=
c.149T= (p.Met50=)
13g.76992101G>ACA388306193CLN5c.3G>A (p.Met1Ile)
n.4G>A
n.13G>A
c.150G>A (p.Met50Ile)
 ClinVar dbSNP gnomAD v3 gnomAD v4
13g.76992101G>CCA388306195CLN5c.3G>C (p.Met1Ile)
n.4G>C
n.13G>C
c.150G>C (p.Met50Ile)
13g.76992101G=CA2103418177CLN5c.3G= (p.Met1=)
n.4G=
n.13G=
c.150G= (p.Met50=)
13g.76992101G>TCA388306191CLN5c.3G>T (p.Met1Ile)
n.4G>T
n.13G>T
c.150G>T (p.Met50Ile)
13g.76992104_76992121dupCA2623294721CLN5c.6_23dup (p.Ala8_Gln9insGlnGluValAspThrAla)
n.7_24dup
n.16_33dup
c.153_170dup (p.Ala57_Gln58insGlnGluValAspThrAla)
 gnomAD v4
13g.76992106_76992130dupCA2623294722CLN5c.8_32dup (p.Glu12GlyfsTer?)
n.9_33dup
n.18_42dup
c.155_179dup (p.Glu61GlyfsTer?)
 gnomAD v4
13g.76992102G>ACA388306196CLN5c.4G>A (p.Ala2Thr)
n.5G>A
n.14G>A
c.151G>A (p.Ala51Thr)
13g.76992102G>CCA388306197CLN5c.4G>C (p.Ala2Pro)
n.5G>C
n.14G>C
c.151G>C (p.Ala51Pro)
13g.76992102G>TCA388306199CLN5c.4G>T (p.Ala2Ser)
n.5G>T
n.14G>T
c.151G>T (p.Ala51Ser)
 gnomAD v4
13g.76992103C>ACA388306202CLN5c.5C>A (p.Ala2Glu)
n.6C>A
n.15C>A
c.152C>A (p.Ala51Glu)
 dbSNP gnomAD v2 gnomAD v4
13g.76992103C=CA2103418182CLN5c.5C= (p.Ala2=)
n.6C=
n.15C=
c.152C= (p.Ala51=)
13g.76992103C>GCA388306204CLN5c.5C>G (p.Ala2Gly)
n.6C>G
n.15C>G
c.152C>G (p.Ala51Gly)
13g.76992103C>TCA313861CLN5c.5C>T (p.Ala2Val)
n.6C>T
n.15C>T
c.152C>T (p.Ala51Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.76992104G>ACA484334679CLN5c.6G>A (p.Ala2=)
n.7G>A
n.16G>A
c.153G>A (p.Ala51=)
 dbSNP gnomAD v4
13g.76992104G>CCA484334680CLN5c.6G>C (p.Ala2=)
n.7G>C
n.16G>C
c.153G>C (p.Ala51=)
13g.76992104G=CA2103418185CLN5c.6G= (p.Ala2=)
n.7G=
n.16G=
c.153G= (p.Ala51=)
13g.76992104G>TCA484334681CLN5c.6G>T (p.Ala2=)
n.7G>T
n.16G>T
c.153G>T (p.Ala51=)
 ClinVar dbSNP gnomAD v4
13g.76992105C>ACA388306210CLN5c.7C>A (p.Gln3Lys)
n.8C>A
n.17C>A
c.154C>A (p.Gln52Lys)
13g.76992105C>GCA388306207CLN5c.7C>G (p.Gln3Glu)
n.8C>G
n.17C>G
c.154C>G (p.Gln52Glu)
13g.76992105C>TCA388306208CLN5c.7C>T (p.Gln3Ter)
n.8C>T
n.17C>T
c.154C>T (p.Gln52Ter)
13g.76992106A=CA2103418187CLN5c.8A= (p.Gln3=)
n.9A=
n.18A=
c.155A= (p.Gln52=)
13g.76992106A>CCA388306213CLN5c.8A>C (p.Gln3Pro)
n.9A>C
n.18A>C
c.155A>C (p.Gln52Pro)
13g.76992106A>GCA388306215CLN5c.8A>G (p.Gln3Arg)
n.9A>G
n.18A>G
c.155A>G (p.Gln52Arg)
13g.76992106A>TCA7007101CLN5c.8A>T (p.Gln3Leu)
n.9A>T
n.18A>T
c.155A>T (p.Gln52Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.76992107G>ACA484334682CLN5c.9G>A (p.Gln3=)
n.10G>A
n.19G>A
c.156G>A (p.Gln52=)
13g.76992107G>CCA388306217CLN5c.9G>C (p.Gln3His)
n.10G>C
n.19G>C
c.156G>C (p.Gln52His)
13g.76992107G>TCA388306218CLN5c.9G>T (p.Gln3His)
n.10G>T
n.19G>T
c.156G>T (p.Gln52His)
 gnomAD v4
13g.76992108G>ACA388306219CLN5c.10G>A (p.Glu4Lys)
n.11G>A
n.20G>A
c.157G>A (p.Glu53Lys)
13g.76992108G>CCA388306223CLN5c.10G>C (p.Glu4Gln)
n.11G>C
n.20G>C
c.157G>C (p.Glu53Gln)
13g.76992108G>TCA388306221CLN5c.10G>T (p.Glu4Ter)
n.11G>T
n.20G>T
c.157G>T (p.Glu53Ter)
13g.76992109A>CCA388306225CLN5c.11A>C (p.Glu4Ala)
n.12A>C
n.21A>C
c.158A>C (p.Glu53Ala)
 ClinVar
13g.76992109A>GCA388306227CLN5c.11A>G (p.Glu4Gly)
n.12A>G
n.21A>G
c.158A>G (p.Glu53Gly)
13g.76992109A>TCA388306229CLN5c.11A>T (p.Glu4Val)
n.12A>T
n.21A>T
c.158A>T (p.Glu53Val)
13g.76992110G>ACA484334683CLN5c.12G>A (p.Glu4=)
n.13G>A
n.22G>A
c.159G>A (p.Glu53=)
13g.76992110G>CCA388306231CLN5c.12G>C (p.Glu4Asp)
n.13G>C
n.22G>C
c.159G>C (p.Glu53Asp)
 ClinVar gnomAD v4
13g.76992110G>TCA388306233CLN5c.12G>T (p.Glu4Asp)
n.13G>T
n.22G>T
c.159G>T (p.Glu53Asp)
13g.76992111G>ACA16619819CLN5c.13G>A (p.Val5Ile)
n.14G>A
n.23G>A
c.160G>A (p.Val54Ile)
 ClinVar dbSNP gnomAD v2 gnomAD v4
13g.76992111G>CCA388306235CLN5c.13G>C (p.Val5Leu)
n.14G>C
n.23G>C
c.160G>C (p.Val54Leu)
13g.76992111G=CA2103418195CLN5c.13G= (p.Val5=)
n.14G=
n.23G=
c.160G= (p.Val54=)
13g.76992111G>TCA388306238CLN5c.13G>T (p.Val5Leu)
n.14G>T
n.23G>T
c.160G>T (p.Val54Leu)
13g.76992112T>ACA388306240CLN5c.14T>A (p.Val5Glu)
n.15T>A
n.24T>A
c.161T>A (p.Val54Glu)
13g.76992112T>CCA388306241CLN5c.14T>C (p.Val5Ala)
n.15T>C
n.24T>C
c.161T>C (p.Val54Ala)
13g.76992112T>GCA388306244CLN5c.14T>G (p.Val5Gly)
n.15T>G
n.24T>G
c.161T>G (p.Val54Gly)
13g.76992113A=CA2103418200CLN5c.15A= (p.Val5=)
n.16A=
n.25A=
c.162A= (p.Val54=)
13g.76992113A>CCA484334684CLN5c.15A>C (p.Val5=)
n.16A>C
n.25A>C
c.162A>C (p.Val54=)
13g.76992113A>GCA484334685CLN5c.15A>G (p.Val5=)
n.16A>G
n.25A>G
c.162A>G (p.Val54=)
 ClinVar dbSNP gnomAD v4
13g.76992113A>TCA484334686CLN5c.15A>T (p.Val5=)
n.16A>T
n.25A>T
c.162A>T (p.Val54=)
13g.76992114G>ACA388306245CLN5c.16G>A (p.Asp6Asn)
n.17G>A
n.26G>A
c.163G>A (p.Asp55Asn)
13g.76992114G>CCA388306249CLN5c.16G>C (p.Asp6His)
n.17G>C
n.26G>C
c.163G>C (p.Asp55His)
 gnomAD v4
13g.76992114G>TCA388306247CLN5c.16G>T (p.Asp6Tyr)
n.17G>T
n.26G>T
c.163G>T (p.Asp55Tyr)
 gnomAD v4
13g.76992115delCA2623294728CLN5c.17del (p.Asp6AlafsTer?)
n.18del
n.27del
c.164del (p.Asp55AlafsTer?)
 gnomAD v4
13g.76992115A=CA2103418203CLN5c.17A= (p.Asp6=)
n.18A=
n.27A=
c.164A= (p.Asp55=)
13g.76992115A>CCA388306251CLN5c.17A>C (p.Asp6Ala)
n.18A>C
n.27A>C
c.164A>C (p.Asp55Ala)
13g.76992115A>GCA7007102CLN5c.17A>G (p.Asp6Gly)
n.18A>G
n.27A>G
c.164A>G (p.Asp55Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.76992115A>TCA388306253CLN5c.17A>T (p.Asp6Val)
n.18A>T
n.27A>T
c.164A>T (p.Asp55Val)
13g.76992115_76992116delinsACCA2103418209CLN5c.17_18delinsAC (p.Asp6=)
n.18_19delinsAC
n.27_28delinsAC
c.164_165delinsAC (p.Asp55=)
13g.76992117_76992118delCA912974888CLN5c.19_20del (p.Thr7GlyfsTer?)
n.20_21del
n.29_30del
c.166_167del (p.Thr56GlyfsTer?)
13g.76992116delCA658823719CLN5c.18del (p.Asp6GlufsTer?)
n.19del
n.28del
c.165del (p.Asp55GlufsTer?)
c.1del
 ClinVar dbSNP
13g.76992116C>ACA388306256CLN5c.18C>A (p.Asp6Glu)
n.19C>A
n.28C>A
c.165C>A (p.Asp55Glu)
c.1C>A
 gnomAD v4
13g.76992116C=CA2103418219CLN5c.18C= (p.Asp6=)
n.19C=
n.28C=
c.165C= (p.Asp55=)
c.1C=
13g.76992116C>GCA388306258CLN5c.18C>G (p.Asp6Glu)
n.19C>G
n.28C>G
c.165C>G (p.Asp55Glu)
c.1C>G
13g.76992116C>TCA484334687CLN5c.18C>T (p.Asp6=)
n.19C>T
n.28C>T
c.165C>T (p.Asp55=)
c.1C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
13g.76992117A=CA2103418231CLN5c.19A= (p.Thr7=)
n.20A=
n.29A=
c.166A= (p.Thr56=)
c.2A=
13g.76992117A>CCA388306260CLN5c.19A>C (p.Thr7Pro)
n.20A>C
n.29A>C
c.166A>C (p.Thr56Pro)
c.2A>C
13g.76992117A>GCA7007103CLN5c.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
13g.76992117A>TCA388306263CLN5c.19A>T (p.Thr7Ser)
n.20A>T
n.29A>T
c.166A>T (p.Thr56Ser)
c.2A>T
 ClinVar dbSNP gnomAD v4
13g.76992118C>ACA7007104CLN5c.20C>A (p.Thr7Lys)
n.21C>A
n.30C>A
c.167C>A (p.Thr56Lys)
c.3C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.76992118C=CA2103418241CLN5c.20C= (p.Thr7=)
n.21C=
n.30C=
c.167C= (p.Thr56=)
c.3C=
13g.76992118C>GCA388306267CLN5c.20C>G (p.Thr7Arg)
n.21C>G
n.30C>G
c.167C>G (p.Thr56Arg)
c.3C>G
 dbSNP gnomAD v4
13g.76992118C>TCA388306269CLN5c.20C>T (p.Thr7Met)
n.21C>T
n.30C>T
c.167C>T (p.Thr56Met)
c.3C>T
 dbSNP gnomAD v2 gnomAD v4
13g.76992119_76992121delCA2799793058CLN5c.21_23del (p.Ala8del)
n.22_24del
n.31_33del
c.168_170del (p.Ala57del)
c.4_6del
13g.76992119G>ACA16606867CLN5c.21G>A (p.Thr7=)
n.22G>A
n.31G>A
c.168G>A (p.Thr56=)
c.4G>A
 ClinVar dbSNP gnomAD v4
13g.76992119G>CCA16606868CLN5c.21G>C (p.Thr7=)
n.22G>C
n.31G>C
c.168G>C (p.Thr56=)
c.4G>C
 ClinVar dbSNP gnomAD v4 COSMIC
13g.76992119G=CA2103418276CLN5c.21G= (p.Thr7=)
n.22G=
n.31G=
c.168G= (p.Thr56=)
c.4G=
13g.76992119G>TCA484334688CLN5c.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
13g.76992120G>ACA388306271CLN5c.22G>A (p.Ala8Thr)
n.23G>A
n.32G>A
c.169G>A (p.Ala57Thr)
c.5G>A
 gnomAD v4
13g.76992120G>CCA388306273CLN5c.22G>C (p.Ala8Pro)
n.23G>C
n.32G>C
c.169G>C (p.Ala57Pro)
c.5G>C
13g.76992120G>TCA388306275CLN5c.22G>T (p.Ala8Ser)
n.23G>T
n.32G>T
c.169G>T (p.Ala57Ser)
c.5G>T
13g.76992121C>ACA388306282CLN5c.23C>A (p.Ala8Glu)
n.24C>A
n.33C>A
c.170C>A (p.Ala57Glu)
c.6C>A
 dbSNP gnomAD v2 gnomAD v4
13g.76992121C=CA2103418289CLN5c.23C= (p.Ala8=)
n.24C=
n.33C=
c.170C= (p.Ala57=)
c.6C=
13g.76992121C>GCA388306278CLN5c.23C>G (p.Ala8Gly)
n.24C>G
n.33C>G
c.170C>G (p.Ala57Gly)
c.6C>G
13g.76992121C>TCA388306279CLN5c.23C>T (p.Ala8Val)
n.24C>T
n.33C>T
c.170C>T (p.Ala57Val)
c.6C>T
13g.76992122A=CA2103418292CLN5c.24A= (p.Ala8=)
n.25A=
n.34A=
c.171A= (p.Ala57=)
c.7A=
13g.76992122A>CCA484334689CLN5c.24A>C (p.Ala8=)
n.25A>C
n.34A>C
c.171A>C (p.Ala57=)
c.7A>C
 ClinVar dbSNP
13g.76992122A>GCA7007105CLN5c.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
13g.76992122A>TCA484334690CLN5c.24A>T (p.Ala8=)
n.25A>T
n.34A>T
c.171A>T (p.Ala57=)
c.7A>T
 gnomAD v4
13g.76992123C>ACA388306285CLN5c.25C>A (p.Gln9Lys)
n.26C>A
n.35C>A
c.172C>A (p.Gln58Lys)
c.8C>A
13g.76992123C>GCA388306287CLN5c.25C>G (p.Gln9Glu)
n.26C>G
n.35C>G
c.172C>G (p.Gln58Glu)
c.8C>G
 gnomAD v4
13g.76992123C>TCA388306289CLN5c.25C>T (p.Gln9Ter)
n.26C>T
n.35C>T
c.172C>T (p.Gln58Ter)
c.8C>T
13g.76992124A=CA2103418300CLN5c.26A= (p.Gln9=)
n.27A=
n.36A=
c.173A= (p.Gln58=)
c.9A=
13g.76992124A>CCA388306291CLN5c.26A>C (p.Gln9Pro)
n.27A>C
n.36A>C
c.173A>C (p.Gln58Pro)
c.9A>C
 gnomAD v4
13g.76992124A>GCA388306293CLN5c.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
13g.76992124A>TCA388306295CLN5c.26A>T (p.Gln9Leu)
n.27A>T
n.36A>T
c.173A>T (p.Gln58Leu)
c.9A>T
 dbSNP gnomAD v4
13g.76992124dupCA912974889CLN5c.26dup (p.Ala11ArgfsTer?)
n.27dup
n.36dup
c.173dup (p.Ala60ArgfsTer?)
c.9dup
13g.76992125G>ACA7007106CLN5c.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
13g.76992125G>CCA388306298CLN5c.27G>C (p.Gln9His)
n.28G>C
n.37G>C
c.174G>C (p.Gln58His)
c.10G>C
13g.76992125G=CA2103418317CLN5c.27G= (p.Gln9=)
n.28G=
n.37G=
c.174G= (p.Gln58=)
c.10G=
13g.76992125G>TCA388306300CLN5c.27G>T (p.Gln9His)
n.28G>T
n.37G>T
c.174G>T (p.Gln58His)
c.10G>T
 gnomAD v4
13g.76992131_76992148dupCA658823720CLN5c.33_50dup (p.Ala17_Gly18insGluMetArgArgGlyAla)
n.34_51dup
n.43_60dup
c.180_197dup (p.Ala66_Gly67insGluMetArgArgGlyAla)
c.16_33dup
 ClinVar dbSNP
13g.76992126G>ACA7007107CLN5c.28G>A (p.Gly10Ser)
n.29G>A
n.38G>A
c.175G>A (p.Gly59Ser)
c.11G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.76992126G>CCA388306305CLN5c.28G>C (p.Gly10Arg)
n.29G>C
n.38G>C
c.175G>C (p.Gly59Arg)
c.11G>C
13g.76992126G=CA2103418321CLN5c.28G= (p.Gly10=)
n.29G=
n.38G=
c.175G= (p.Gly59=)
c.11G=
13g.76992126G>TCA388306303CLN5c.28G>T (p.Gly10Cys)
n.29G>T
n.38G>T
c.175G>T (p.Gly59Cys)
c.11G>T
13g.76992127G>ACA388306307CLN5c.29G>A (p.Gly10Asp)
n.30G>A
n.39G>A
c.176G>A (p.Gly59Asp)
c.12G>A
 dbSNP gnomAD v2 gnomAD v4
13g.76992127G>CCA388306309CLN5c.29G>C (p.Gly10Ala)
n.30G>C
n.39G>C
c.176G>C (p.Gly59Ala)
c.12G>C
13g.76992127G=CA2103418325CLN5c.29G= (p.Gly10=)
n.30G=
n.39G=
c.176G= (p.Gly59=)
c.12G=
13g.76992127G>TCA388306311CLN5c.29G>T (p.Gly10Val)
n.30G>T
n.39G>T
c.176G>T (p.Gly59Val)
c.12G>T
13g.76992128C>ACA484334691CLN5c.30C>A (p.Gly10=)
n.31C>A
n.40C>A
c.177C>A (p.Gly59=)
c.13C>A
 ClinVar dbSNP gnomAD v4
13g.76992128C=CA2103418327CLN5c.30C= (p.Gly10=)
n.31C=
n.40C=
c.177C= (p.Gly59=)
c.13C=
13g.76992128C>GCA484334692CLN5c.30C>G (p.Gly10=)
n.31C>G
n.40C>G
c.177C>G (p.Gly59=)
c.13C>G
 ClinVar dbSNP
13g.76992128C>TCA7007108CLN5c.30C>T (p.Gly10=)
n.31C>T
n.40C>T
c.177C>T (p.Gly59=)
c.13C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.76992129G>ACA388306314CLN5c.31G>A (p.Ala11Thr)
n.32G>A
n.41G>A
c.178G>A (p.Ala60Thr)
c.14G>A
 gnomAD v4
13g.76992129G>CCA388306316CLN5c.31G>C (p.Ala11Pro)
n.32G>C
n.41G>C
c.178G>C (p.Ala60Pro)
c.14G>C
13g.76992129G=CA2103418333CLN5c.31G= (p.Ala11=)
n.32G=
n.41G=
c.178G= (p.Ala60=)
c.14G=
13g.76992129G>TCA7007109CLN5c.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
13g.76992130C>ACA388306319CLN5c.32C>A (p.Ala11Asp)
n.33C>A
n.42C>A
c.179C>A (p.Ala60Asp)
c.15C>A
 gnomAD v4
13g.76992130C=CA2103418336CLN5c.32C= (p.Ala11=)
n.33C=
n.42C=
c.179C= (p.Ala60=)
c.15C=
13g.76992130C>GCA388306321CLN5c.32C>G (p.Ala11Gly)
n.33C>G
n.42C>G
c.179C>G (p.Ala60Gly)
c.15C>G
13g.76992130C>TCA388306323CLN5c.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
13g.76992131C>ACA484334693CLN5c.33C>A (p.Ala11=)
n.34C>A
n.43C>A
c.180C>A (p.Ala60=)
c.16C>A
13g.76992131C=CA2103418344CLN5c.33C= (p.Ala11=)
n.34C=
n.43C=
c.180C= (p.Ala60=)
c.16C=
13g.76992131C>GCA7007110CLN5c.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
13g.76992131C>TCA7007111CLN5c.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
13g.76992132G>ACA388306329CLN5c.34G>A (p.Glu12Lys)
n.35G>A
n.44G>A
c.181G>A (p.Glu61Lys)
c.17G>A
13g.76992132G>CCA388306330CLN5c.34G>C (p.Glu12Gln)
n.35G>C
n.44G>C
c.181G>C (p.Glu61Gln)
c.17G>C
13g.76992132G>TCA388306327CLN5c.34G>T (p.Glu12Ter)
n.35G>T
n.44G>T
c.181G>T (p.Glu61Ter)
c.17G>T
 ClinVar gnomAD v4
13g.76992133A>CCA388306332CLN5c.35A>C (p.Glu12Ala)
n.36A>C
n.45A>C
c.182A>C (p.Glu61Ala)
c.18A>C
13g.76992133A>GCA388306334CLN5c.35A>G (p.Glu12Gly)
n.36A>G
n.45A>G
c.182A>G (p.Glu61Gly)
c.18A>G
13g.76992133A>TCA388306336CLN5c.35A>T (p.Glu12Val)
n.36A>T
n.45A>T
c.182A>T (p.Glu61Val)
c.18A>T
13g.76992134G>ACA484334694CLN5c.36G>A (p.Glu12=)
n.37G>A
n.46G>A
c.183G>A (p.Glu61=)
c.19G>A
 dbSNP gnomAD v2
13g.76992134G>CCA7007112CLN5c.36G>C (p.Glu12Asp)
n.37G>C
n.46G>C
c.183G>C (p.Glu61Asp)
c.19G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.76992134G=CA2103418356CLN5c.36G= (p.Glu12=)
n.37G=
n.46G=
c.183G= (p.Glu61=)
c.19G=
13g.76992134G>TCA7007113CLN5c.36G>T (p.Glu12Asp)
n.37G>T
n.46G>T
c.183G>T (p.Glu61Asp)
c.19G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.76992135A=CA2103418360CLN5c.37A= (p.Met13=)
n.38A=
n.47A=
c.184A= (p.Met62=)
c.20A=
13g.76992135A>CCA388306344CLN5c.37A>C (p.Met13Leu)
n.38A>C
n.47A>C
c.184A>C (p.Met62Leu)
c.20A>C
13g.76992135A>GCA388306341CLN5c.37A>G (p.Met13Val)
n.38A>G
n.47A>G
c.184A>G (p.Met62Val)
c.20A>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
13g.76992135A>TCA388306342CLN5c.37A>T (p.Met13Leu)
n.38A>T
n.47A>T
c.184A>T (p.Met62Leu)
c.20A>T
 gnomAD v4
13g.76992136T>ACA388306346CLN5c.38T>A (p.Met13Lys)
n.39T>A
n.48T>A
c.185T>A (p.Met62Lys)
c.21T>A
 gnomAD v4
13g.76992136T>CCA252175652CLN5c.38T>C (p.Met13Thr)
n.39T>C
n.48T>C
c.185T>C (p.Met62Thr)
c.21T>C
 ClinVar dbSNP
13g.76992136T>GCA388306348CLN5c.38T>G (p.Met13Arg)
n.39T>G
n.48T>G
c.185T>G (p.Met62Arg)
c.21T>G
13g.76992136T=CA2103418364CLN5c.38T= (p.Met13=)
n.39T=
n.48T=
c.185T= (p.Met62=)
c.21T=
13g.76992137G>ACA388306350CLN5c.39G>A (p.Met13Ile)
n.40G>A
n.49G>A
c.186G>A (p.Met62Ile)
c.22G>A
13g.76992137G>CCA388306352CLN5c.39G>C (p.Met13Ile)
n.40G>C
n.49G>C
c.186G>C (p.Met62Ile)
c.22G>C
13g.76992137G>TCA388306354CLN5c.39G>T (p.Met13Ile)
n.40G>T
n.49G>T
c.186G>T (p.Met62Ile)
c.22G>T
 gnomAD v4
13g.76992138C>ACA484334695CLN5c.40C>A (p.Arg14=)
n.41C>A
n.50C>A
c.187C>A (p.Arg63=)
c.23C>A
13g.76992138C>GCA388306355CLN5c.40C>G (p.Arg14Gly)
n.41C>G
n.50C>G
c.187C>G (p.Arg63Gly)
c.23C>G
13g.76992138C>TCA388306356CLN5c.40C>T (p.Arg14Trp)
n.41C>T
n.50C>T
c.187C>T (p.Arg63Trp)
c.23C>T
 gnomAD v4
13g.76992139G>ACA388306358CLN5c.41G>A (p.Arg14Gln)
n.42G>A
n.51G>A
c.188G>A (p.Arg63Gln)
c.24G>A
13g.76992139G>CCA388306361CLN5c.41G>C (p.Arg14Pro)
n.42G>C
n.51G>C
c.188G>C (p.Arg63Pro)
c.24G>C
13g.76992139G=CA2103418366CLN5c.41G= (p.Arg14=)
n.42G=
n.51G=
c.188G= (p.Arg63=)
c.24G=
13g.76992139G>TCA388306360CLN5c.41G>T (p.Arg14Leu)
n.42G>T
n.51G>T
c.188G>T (p.Arg63Leu)
c.24G>T
 dbSNP gnomAD v2 gnomAD v4
13g.76992140delCA2580087752CLN5c.42del (p.Arg15GlyfsTer?)
n.43del
n.52del
c.189del (p.Arg64GlyfsTer?)
c.25del
 ClinVar
13g.76992140G>ACA7007114CLN5c.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
13g.76992140G>CCA484334696CLN5c.42G>C (p.Arg14=)
n.43G>C
n.52G>C
c.189G>C (p.Arg63=)
c.25G>C
13g.76992140G=CA2103418368CLN5c.42G= (p.Arg14=)
n.43G=
n.52G=
c.189G= (p.Arg63=)
c.25G=
13g.76992140G>TCA484334697CLN5c.42G>T (p.Arg14=)
n.43G>T
n.52G>T
c.189G>T (p.Arg63=)
c.25G>T
13g.76992141C>ACA7007115CLN5c.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
13g.76992141C=CA2103418369CLN5c.43C= (p.Arg15=)
n.44C=
n.53C=
c.190C= (p.Arg64=)
c.26C=
13g.76992141C>GCA388306366CLN5c.43C>G (p.Arg15Gly)
n.44C>G
n.53C>G
c.190C>G (p.Arg64Gly)
c.26C>G
13g.76992141C>TCA388306367CLN5c.43C>T (p.Arg15Trp)
n.44C>T
n.53C>T
c.190C>T (p.Arg64Trp)
c.26C>T
 ClinVar dbSNP gnomAD v4
13g.76992142G>ACA388306370CLN5c.44G>A (p.Arg15Gln)
n.45G>A
n.54G>A
c.191G>A (p.Arg64Gln)
c.27G>A
 gnomAD v4 COSMIC
13g.76992142G>CCA388306371CLN5c.44G>C (p.Arg15Pro)
n.45G>C
n.54G>C
c.191G>C (p.Arg64Pro)
c.27G>C
13g.76992142G=CA2103418370CLN5c.44G= (p.Arg15=)
n.45G=
n.54G=
c.191G= (p.Arg64=)
c.27G=
13g.76992142G>TCA388306373CLN5c.44G>T (p.Arg15Leu)
n.45G>T
n.54G>T
c.191G>T (p.Arg64Leu)
c.27G>T
 gnomAD v4
13g.76992143G>ACA484334698CLN5c.45G>A (p.Arg15=)
n.46G>A
n.55G>A
c.192G>A (p.Arg64=)
c.28G>A
 dbSNP gnomAD v3 gnomAD v4
13g.76992143G>CCA484334699CLN5c.45G>C (p.Arg15=)
n.46G>C
n.55G>C
c.192G>C (p.Arg64=)
c.28G>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
13g.76992143G=CA2103418371CLN5c.45G= (p.Arg15=)
n.46G=
n.55G=
c.192G= (p.Arg64=)
c.28G=
13g.76992143G>TCA484334700CLN5c.45G>T (p.Arg15=)
n.46G>T
n.55G>T
c.192G>T (p.Arg64=)
c.28G>T
 gnomAD v4
13g.76992151_76992156dupCA313864CLN5c.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
13g.76992143_76992159delinsGGGCGCGGGCGCGGCTCCA2103418373CLN5c.45_61delinsGGGCGCGGGCGCGGCTC (p.Arg15=)
n.46_62delinsGGGCGCGGGCGCGGCTC
n.55_71delinsGGGCGCGGGCGCGGCTC
c.192_208delinsGGGCGCGGGCGCGGCTC (p.Arg64=)
c.28_44delinsGGGCGCGGGCGCGGCTC
13g.76992144G>ACA7007116CLN5c.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
13g.76992144G>CCA388306379CLN5c.46G>C (p.Gly16Arg)
n.47G>C
n.56G>C
c.193G>C (p.Gly65Arg)
c.29G>C
 gnomAD v4
13g.76992144G=CA2103418383CLN5c.46G= (p.Gly16=)
n.47G=
n.56G=
c.193G= (p.Gly65=)
c.29G=
13g.76992144G>TCA388306381CLN5c.46G>T (p.Gly16Cys)
n.47G>T
n.56G>T
c.193G>T (p.Gly65Cys)
c.29G>T
 gnomAD v4
13g.76992146_76992161delCA2103418380CLN5c.48_63del (p.Ala17AspfsTer?)
n.49_64del
n.58_73del
c.195_210del (p.Ala66AspfsTer?)
c.31_46del
 dbSNP
13g.76992145G>ACA388306383CLN5c.47G>A (p.Gly16Asp)
n.48G>A
n.57G>A
c.194G>A (p.Gly65Asp)
c.30G>A
13g.76992145G>CCA388306384CLN5c.47G>C (p.Gly16Ala)
n.48G>C
n.57G>C
c.194G>C (p.Gly65Ala)
c.30G>C
13g.76992145G>TCA388306385CLN5c.47G>T (p.Gly16Val)
n.48G>T
n.57G>T
c.194G>T (p.Gly65Val)
c.30G>T
13g.76992146C>ACA484334701CLN5c.48C>A (p.Gly16=)
n.49C>A
n.58C>A
c.195C>A (p.Gly65=)
c.31C>A
 ClinVar
13g.76992146C=CA2103418410CLN5c.48C= (p.Gly16=)
n.49C=
n.58C=
c.195C= (p.Gly65=)
c.31C=
13g.76992146C>GCA484334702CLN5c.48C>G (p.Gly16=)
n.49C>G
n.58C>G
c.195C>G (p.Gly65=)
c.31C>G
 ClinVar dbSNP gnomAD v4
13g.76992146C>TCA484334703CLN5c.48C>T (p.Gly16=)
n.49C>T
n.58C>T
c.195C>T (p.Gly65=)
c.31C>T
 ClinVar dbSNP gnomAD v4
13g.76992147G>ACA388306392CLN5c.49G>A (p.Ala17Thr)
n.50G>A
n.59G>A
c.196G>A (p.Ala66Thr)
c.32G>A
13g.76992147G>CCA388306388CLN5c.49G>C (p.Ala17Pro)
n.50G>C
n.59G>C
c.196G>C (p.Ala66Pro)
c.32G>C
13g.76992147G>TCA388306390CLN5c.49G>T (p.Ala17Ser)
n.50G>T
n.59G>T
c.196G>T (p.Ala66Ser)
c.32G>T
 gnomAD v4
13g.76992148C>ACA388306394CLN5c.50C>A (p.Ala17Glu)
n.51C>A
n.60C>A
c.197C>A (p.Ala66Glu)
c.33C>A
13g.76992148C=CA2103418416CLN5c.50C= (p.Ala17=)
n.51C=
n.60C=
c.197C= (p.Ala66=)
c.33C=
13g.76992148C>GCA388306396CLN5c.50C>G (p.Ala17Gly)
n.51C>G
n.60C>G
c.197C>G (p.Ala66Gly)
c.33C>G
13g.76992148C>TCA388306397CLN5c.50C>T (p.Ala17Val)
n.51C>T
n.60C>T
c.197C>T (p.Ala66Val)
c.33C>T
 dbSNP gnomAD v3 gnomAD v4
13g.76992149G>ACA484334704CLN5c.51G>A (p.Ala17=)
n.52G>A
n.61G>A
c.198G>A (p.Ala66=)
c.34G>A
 ClinVar gnomAD v4
13g.76992149G>CCA484334705CLN5c.51G>C (p.Ala17=)
n.52G>C
n.61G>C
c.198G>C (p.Ala66=)
c.34G>C
13g.76992149G>TCA484334706CLN5c.51G>T (p.Ala17=)
n.52G>T
n.61G>T
c.198G>T (p.Ala66=)
c.34G>T
 gnomAD v4
13g.76992150G>ACA388306400CLN5c.52G>A (p.Gly18Ser)
n.53G>A
n.62G>A
c.199G>A (p.Gly67Ser)
c.35G>A
 dbSNP
13g.76992150G>CCA388306402CLN5c.52G>C (p.Gly18Arg)
n.53G>C
n.62G>C
c.199G>C (p.Gly67Arg)
c.35G>C
13g.76992150G=CA2103418421CLN5c.52G= (p.Gly18=)
n.53G=
n.62G=
c.199G= (p.Gly67=)
c.35G=
13g.76992150G>TCA388306403CLN5c.52G>T (p.Gly18Cys)
n.53G>T
n.62G>T
c.199G>T (p.Gly67Cys)
c.35G>T
13g.76992151G>ACA7007117CLN5c.53G>A (p.Gly18Asp)
n.54G>A
n.63G>A
c.200G>A (p.Gly67Asp)
c.36G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.76992151G>CCA388306406CLN5c.53G>C (p.Gly18Ala)
n.54G>C
n.63G>C
c.200G>C (p.Gly67Ala)
c.36G>C
13g.76992151G=CA2103418426CLN5c.53G= (p.Gly18=)
n.54G=
n.63G=
c.200G= (p.Gly67=)
c.36G=
13g.76992151G>TCA388306408CLN5c.53G>T (p.Gly18Val)
n.54G>T
n.63G>T
c.200G>T (p.Gly67Val)
c.36G>T
13g.76992152C>ACA484334707CLN5c.54C>A (p.Gly18=)
n.55C>A
n.64C>A
c.201C>A (p.Gly67=)
c.37C>A
 gnomAD v4
13g.76992152C>GCA484334708CLN5c.54C>G (p.Gly18=)
n.55C>G
n.64C>G
c.201C>G (p.Gly67=)
c.37C>G
 gnomAD v4
13g.76992152C>TCA484334709CLN5c.54C>T (p.Gly18=)
n.55C>T
n.64C>T
c.201C>T (p.Gly67=)
c.37C>T
 ClinVar gnomAD v4
13g.76992153G>ACA388306411CLN5c.55G>A (p.Ala19Thr)
n.56G>A
n.65G>A
c.202G>A (p.Ala68Thr)
c.38G>A
 dbSNP gnomAD v2 gnomAD v4
13g.76992153G>CCA388306412CLN5c.55G>C (p.Ala19Pro)
n.56G>C
n.65G>C
c.202G>C (p.Ala68Pro)
c.38G>C
13g.76992153G=CA2103418431CLN5c.55G= (p.Ala19=)
n.56G=
n.65G=
c.202G= (p.Ala68=)
c.38G=
13g.76992153G>TCA388306414CLN5c.55G>T (p.Ala19Ser)
n.56G>T
n.65G>T
c.202G>T (p.Ala68Ser)
c.38G>T
 gnomAD v4
13g.76992154C>ACA388306417CLN5c.56C>A (p.Ala19Glu)
n.57C>A
n.66C>A
c.203C>A (p.Ala68Glu)
c.39C>A
 gnomAD v4
13g.76992154C=CA2103418436CLN5c.56C= (p.Ala19=)
n.57C=
n.66C=
c.203C= (p.Ala68=)
c.39C=
13g.76992154C>GCA388306419CLN5c.56C>G (p.Ala19Gly)
n.57C>G
n.66C>G
c.203C>G (p.Ala68Gly)
c.39C>G
13g.76992154C>TCA388306418CLN5c.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
13g.76992155G>ACA484334710CLN5c.57G>A (p.Ala19=)
n.58G>A
n.67G>A
c.204G>A (p.Ala68=)
c.40G>A
13g.76992155G>CCA484334711CLN5c.57G>C (p.Ala19=)
n.58G>C
n.67G>C
c.204G>C (p.Ala68=)
c.40G>C
13g.76992155G=CA2103418444CLN5c.57G= (p.Ala19=)
n.58G=
n.67G=
c.204G= (p.Ala68=)
c.40G=
13g.76992155G>TCA484334712CLN5c.57G>T (p.Ala19=)
n.58G>T
n.67G>T
c.204G>T (p.Ala68=)
c.40G>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
13g.76992156G>ACA388306421CLN5c.58G>A (p.Ala20Thr)
n.59G>A
n.68G>A
c.205G>A (p.Ala69Thr)
c.41G>A
 gnomAD v4
13g.76992156G>CCA388306422CLN5c.58G>C (p.Ala20Pro)
n.59G>C
n.68G>C
c.205G>C (p.Ala69Pro)
c.41G>C
13g.76992156G>TCA388306424CLN5c.58G>T (p.Ala20Ser)
n.59G>T
n.68G>T
c.205G>T (p.Ala69Ser)
c.41G>T
13g.76992157C>ACA388306426CLN5c.59C>A (p.Ala20Asp)
n.60C>A
n.69C>A
c.206C>A (p.Ala69Asp)
c.42C>A
 gnomAD v4
13g.76992157C=CA2103418451CLN5c.59C= (p.Ala20=)
n.60C=
n.69C=
c.206C= (p.Ala69=)
c.42C=
13g.76992157C>GCA388306428CLN5c.59C>G (p.Ala20Gly)
n.60C>G
n.69C>G
c.206C>G (p.Ala69Gly)
c.42C>G
13g.76992157C>TCA252175659CLN5c.59C>T (p.Ala20Val)
n.60C>T
n.69C>T
c.206C>T (p.Ala69Val)
c.42C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
13g.76992158T>ACA484334713CLN5c.60T>A (p.Ala20=)
n.61T>A
n.70T>A
c.207T>A (p.Ala69=)
c.43T>A
13g.76992158T>CCA484334715CLN5c.60T>C (p.Ala20=)
n.61T>C
n.70T>C
c.207T>C (p.Ala69=)
c.43T>C
13g.76992158T>GCA484334714CLN5c.60T>G (p.Ala20=)
n.61T>G
n.70T>G
c.207T>G (p.Ala69=)
c.43T>G
13g.76992159C>ACA484334716CLN5c.61C>A (p.Arg21=)
n.62C>A
n.71C>A
c.208C>A (p.Arg70=)
c.44C>A
13g.76992159C=CA2103418464CLN5c.61C= (p.Arg21=)
n.62C=
n.71C=
c.208C= (p.Arg70=)
c.44C=
13g.76992159C>GCA388306430CLN5c.61C>G (p.Arg21Gly)
n.62C>G
n.71C>G
c.208C>G (p.Arg70Gly)
c.44C>G
13g.76992159C>TCA313909CLN5c.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
13g.76992160G>ACA388306433CLN5c.62G>A (p.Arg21Gln)
n.63G>A
c.1G>A
n.72G>A
c.209G>A (p.Arg70Gln)
c.45G>A
 ClinVar dbSNP
13g.76992160G>CCA388306435CLN5c.62G>C (p.Arg21Pro)
n.63G>C
c.1G>C
n.72G>C
c.209G>C (p.Arg70Pro)
c.45G>C
 gnomAD v4
13g.76992160G=CA2103418474CLN5c.62G= (p.Arg21=)
n.63G=
c.1G=
n.72G=
c.209G= (p.Arg70=)
c.45G=
13g.76992160G>TCA388306437CLN5c.62G>T (p.Arg21Leu)
n.63G>T
c.1G>T
n.72G>T
c.209G>T (p.Arg70Leu)
c.45G>T
 gnomAD v4
13g.76992163delCA2623294736CLN5c.65del (p.Gly22AspfsTer?)
n.66del
c.4del
n.75del
c.212del (p.Gly71AspfsTer?)
c.48del
 gnomAD v4
13g.76992161G>ACA484334717CLN5c.63G>A (p.Arg21=)
n.64G>A
c.2G>A
n.73G>A
c.210G>A (p.Arg70=)
c.46G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.76992161G>CCA484334718CLN5c.63G>C (p.Arg21=)
n.64G>C
c.2G>C
n.73G>C
c.210G>C (p.Arg70=)
c.46G>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.76992161G=CA2103418479CLN5c.63G= (p.Arg21=)
n.64G=
c.2G=
n.73G=
c.210G= (p.Arg70=)
c.46G=
13g.76992161G>TCA484334719CLN5c.63G>T (p.Arg21=)
n.64G>T
c.2G>T
n.73G>T
c.210G>T (p.Arg70=)
c.46G>T
13g.76992162G>ACA388306443CLN5c.64G>A (p.Gly22Arg)
n.65G>A
c.3G>A
n.74G>A
c.211G>A (p.Gly71Arg)
c.47G>A
 dbSNP
13g.76992162G>CCA388306441CLN5c.64G>C (p.Gly22Arg)
n.65G>C
c.3G>C
n.74G>C
c.211G>C (p.Gly71Arg)
c.47G>C
13g.76992162G=CA2103418481CLN5c.64G= (p.Gly22=)
n.65G=
c.3G=
n.74G=
c.211G= (p.Gly71=)
c.47G=
13g.76992162G>TCA388306439CLN5c.64G>T (p.Gly22Ter)
n.65G>T
c.3G>T
n.74G>T
c.211G>T (p.Gly71Ter)
c.47G>T
13g.76992163G>ACA388306445CLN5c.65G>A (p.Gly22Glu)
n.66G>A
c.4G>A
n.75G>A
c.212G>A (p.Gly71Glu)
c.48G>A
 ClinVar dbSNP gnomAD v4
13g.76992163G>CCA388306446CLN5c.65G>C (p.Gly22Ala)
n.66G>C
c.4G>C
n.75G>C
c.212G>C (p.Gly71Ala)
c.48G>C
13g.76992163G=CA2103418486CLN5c.65G= (p.Gly22=)
n.66G=
c.4G=
n.75G=
c.212G= (p.Gly71=)
c.48G=
13g.76992163G>TCA388306448CLN5c.65G>T (p.Gly22Val)
n.66G>T
c.4G>T
n.75G>T
c.212G>T (p.Gly71Val)
c.48G>T
13g.76992164A>CCA484334720CLN5c.66A>C (p.Gly22=)
n.67A>C
c.5A>C
n.76A>C
c.213A>C (p.Gly71=)
c.49A>C
13g.76992164A>GCA484334721CLN5c.66A>G (p.Gly22=)
n.67A>G
c.5A>G
n.76A>G
c.213A>G (p.Gly71=)
c.49A>G
13g.76992164A>TCA484334722CLN5c.66A>T (p.Gly22=)
n.67A>T
c.5A>T
n.76A>T
c.213A>T (p.Gly71=)
c.49A>T
13g.76992165C>ACA388306451CLN5c.67C>A (p.Arg23Ser)
n.68C>A
c.6C>A
n.77C>A
c.214C>A (p.Arg72Ser)
c.50C>A
 gnomAD v4
13g.76992165C>GCA388306452CLN5c.67C>G (p.Arg23Gly)
n.68C>G
c.6C>G
n.77C>G
c.214C>G (p.Arg72Gly)
c.50C>G
13g.76992165C>TCA388306454CLN5c.67C>T (p.Arg23Cys)
n.68C>T
c.6C>T
n.77C>T
c.214C>T (p.Arg72Cys)
c.50C>T
13g.76992166G>ACA388306457CLN5c.68G>A (p.Arg23His)
n.69G>A
c.7G>A
n.78G>A
c.215G>A (p.Arg72His)
c.51G>A
 dbSNP gnomAD v2 gnomAD v4
13g.76992166G>CCA388306458CLN5c.68G>C (p.Arg23Pro)
n.69G>C
c.7G>C
n.78G>C
c.215G>C (p.Arg72Pro)
c.51G>C
13g.76992166G=CA2103418491CLN5c.68G= (p.Arg23=)
n.69G=
c.7G=
n.78G=
c.215G= (p.Arg72=)
c.51G=
13g.76992166G>TCA388306460CLN5c.68G>T (p.Arg23Leu)
n.69G>T
c.7G>T
n.78G>T
c.215G>T (p.Arg72Leu)
c.51G>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.76992167C>ACA484334723CLN5c.69C>A (p.Arg23=)
n.70C>A
c.8C>A
n.79C>A
c.216C>A (p.Arg72=)
c.52C>A
 ClinVar gnomAD v4
13g.76992167C=CA2103418494CLN5c.69C= (p.Arg23=)
n.70C=
c.8C=
n.79C=
c.216C= (p.Arg72=)
c.52C=
13g.76992167C>GCA484334724CLN5c.69C>G (p.Arg23=)
n.70C>G
c.8C>G
n.79C>G
c.216C>G (p.Arg72=)
c.52C>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.76992167C>TCA484334725CLN5c.69C>T (p.Arg23=)
n.70C>T
c.8C>T
n.79C>T
c.216C>T (p.Arg72=)
c.52C>T
 ClinVar gnomAD v4
13g.76992168G>ACA388306462CLN5c.70G>A (p.Ala24Thr)
n.71G>A
c.9G>A
n.80G>A
c.217G>A (p.Ala73Thr)
c.53G>A
 gnomAD v4
13g.76992168G>CCA388306463CLN5c.70G>C (p.Ala24Pro)
n.71G>C
c.9G>C
n.80G>C
c.217G>C (p.Ala73Pro)
c.53G>C
13g.76992168G>TCA388306464CLN5c.70G>T (p.Ala24Ser)
n.71G>T
c.9G>T
n.80G>T
c.217G>T (p.Ala73Ser)
c.53G>T
 gnomAD v4
13g.76992169C>ACA388306467CLN5c.71C>A (p.Ala24Asp)
n.72C>A
c.10C>A
n.81C>A
c.218C>A (p.Ala73Asp)
c.54C>A
13g.76992169C>GCA388306470CLN5c.71C>G (p.Ala24Gly)
n.72C>G
c.10C>G
n.81C>G
c.218C>G (p.Ala73Gly)
c.54C>G
13g.76992169C>TCA388306469CLN5c.71C>T (p.Ala24Val)
n.72C>T
c.10C>T
n.81C>T
c.218C>T (p.Ala73Val)
c.54C>T
13g.76992169_76992170insGCCTCGTGCA2799793059CLN5c.71_72insGCCTCGTG (p.Ser25ProfsTer?)
n.72_73insGCCTCGTG
c.10_11insGCCTCGTG
n.81_82insGCCTCGTG
c.218_219insGCCTCGTG (p.Ser74ProfsTer?)
c.54_55insGCCTCGTG
13g.76992170T>ACA484334726CLN5c.72T>A (p.Ala24=)
n.73T>A
c.11T>A
n.82T>A
c.219T>A (p.Ala73=)
c.55T>A
13g.76992170T>CCA484334728CLN5c.72T>C (p.Ala24=)
n.73T>C
c.11T>C
n.82T>C
c.219T>C (p.Ala73=)
c.55T>C
 gnomAD v4
13g.76992170T>GCA484334727CLN5c.72T>G (p.Ala24=)
n.73T>G
c.11T>G
n.82T>G
c.219T>G (p.Ala73=)
c.55T>G
13g.76992170_76992172delinsTTCCA2103418497CLN5c.72_74delinsTTC (p.Ala24=)
n.73_75delinsTTC
c.11_13delinsTTC
n.82_84delinsTTC
c.219_221delinsTTC (p.Ala73=)
c.55_57delinsTTC
13g.76992171T>ACA388306472CLN5c.73T>A (p.Ser25Thr)
n.74T>A
c.12T>A
n.83T>A
c.220T>A (p.Ser74Thr)
c.56T>A
13g.76992171T>CCA388306474CLN5c.73T>C (p.Ser25Pro)
n.74T>C
c.12T>C
n.83T>C
c.220T>C (p.Ser74Pro)
c.56T>C
13g.76992171T>GCA388306475CLN5c.73T>G (p.Ser25Ala)
n.74T>G
c.12T>G
n.83T>G
c.220T>G (p.Ser74Ala)
c.56T>G
13g.76992171_76992172delinsGCA16041685CLN5c.73_74delinsG (p.Ser25AlafsTer?)
n.74_75delinsG
c.12_13delinsG
n.83_84delinsG
c.220_221delinsG (p.Ser74AlafsTer?)
c.56_57delinsG
 ClinVar dbSNP
13g.76992172C>ACA388306477CLN5c.74C>A (p.Ser25Tyr)
n.75C>A
c.13C>A
n.84C>A
c.221C>A (p.Ser74Tyr)
c.57C>A
13g.76992172C=CA2103418514CLN5c.74C= (p.Ser25=)
n.75C=
c.13C=
n.84C=
c.221C= (p.Ser74=)
c.57C=
13g.76992172C>GCA388306479CLN5c.74C>G (p.Ser25Cys)
n.75C>G
c.13C>G
n.84C>G
c.221C>G (p.Ser74Cys)
c.57C>G
13g.76992172C>TCA388306480CLN5c.74C>T (p.Ser25Phe)
n.75C>T
c.13C>T
n.84C>T
c.221C>T (p.Ser74Phe)
c.57C>T
 ClinVar dbSNP gnomAD v4
13g.76992173_76992179delCA2582341849CLN5c.75_81del (p.Trp26GlyfsTer?)
n.76_82del
c.14_20del
n.85_91del
c.222_228del (p.Trp75GlyfsTer?)
c.58_64del
 ClinVar
13g.76992177_76992189dupCA2544785686CLN5c.79_91dup (p.Ala31ValfsTer?)
n.80_92dup
c.18_30dup
n.89_101dup
c.226_238dup (p.Ala80ValfsTer?)
c.62_74dup
13g.76992173C>ACA484334729CLN5c.75C>A (p.Ser25=)
n.76C>A
c.14C>A
n.85C>A
c.222C>A (p.Ser74=)
c.58C>A
13g.76992173C>GCA484334730CLN5c.75C>G (p.Ser25=)
n.76C>G
c.14C>G
n.85C>G
c.222C>G (p.Ser74=)
c.58C>G
 ClinVar dbSNP
13g.76992173C>TCA484334731CLN5c.75C>T (p.Ser25=)
n.76C>T
c.14C>T
n.85C>T
c.222C>T (p.Ser74=)
c.58C>T
13g.76992174T>ACA388306482CLN5c.76T>A (p.Trp26Arg)
n.77T>A
c.15T>A
n.86T>A
c.223T>A (p.Trp75Arg)
c.59T>A
13g.76992174T>CCA313867CLN5c.76T>C (p.Trp26Arg)
n.77T>C
c.15T>C
n.86T>C
c.223T>C (p.Trp75Arg)
c.59T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.76992174T>GCA388306484CLN5c.76T>G (p.Trp26Gly)
n.77T>G
c.15T>G
n.86T>G
c.223T>G (p.Trp75Gly)
c.59T>G
13g.76992174T=CA2103418524CLN5c.76T= (p.Trp26=)
n.77T=
c.15T=
n.86T=
c.223T= (p.Trp75=)
c.59T=
13g.76992175G>ACA388306486CLN5c.77G>A (p.Trp26Ter)
n.78G>A
c.16G>A
n.87G>A
c.224G>A (p.Trp75Ter)
c.60G>A
 ClinVar dbSNP gnomAD v4
13g.76992175G>CCA7007118CLN5c.77G>C (p.Trp26Ser)
n.78G>C
c.16G>C
n.87G>C
c.224G>C (p.Trp75Ser)
c.60G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.76992175G=CA2103418541CLN5c.77G= (p.Trp26=)
n.78G=
c.16G=
n.87G=
c.224G= (p.Trp75=)
c.60G=
13g.76992175G>TCA388306487CLN5c.77G>T (p.Trp26Leu)
n.78G>T
c.16G>T
n.87G>T
c.224G>T (p.Trp75Leu)
c.60G>T

Number of alleles fetched