Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.42538711A=CA2260527980NAGLUc.720A= (p.Pro240=)
c.322A=
c.315A= (p.Pro105=)
c.-23A= (n.-23A=)
c.777A= (p.Pro259=)
17g.42538711A>CCA500216503NAGLUc.720A>C (p.Pro240=)
c.322A>C
c.315A>C (p.Pro105=)
c.-23A>C (n.-23A>C)
c.777A>C (p.Pro259=)
 ClinVar dbSNP
17g.42538711A>GCA500216502NAGLUc.720A>G (p.Pro240=)
c.322A>G
c.315A>G (p.Pro105=)
c.-23A>G (n.-23A>G)
c.777A>G (p.Pro259=)
17g.42538711A>TCA290773440NAGLUc.720A>T (p.Pro240=)
c.322A>T
c.315A>T (p.Pro105=)
c.-23A>T (n.-23A>T)
c.777A>T (p.Pro259=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.42538712G>ACA399598994NAGLUc.721G>A (p.Val241Met)
c.323G>A
c.316G>A (p.Val106Met)
c.-22G>A (n.-22G>A)
c.778G>A (p.Val260Met)
17g.42538712G>CCA399598996NAGLUc.721G>C (p.Val241Leu)
c.323G>C
c.316G>C (p.Val106Leu)
c.-22G>C (n.-22G>C)
c.778G>C (p.Val260Leu)
17g.42538712G=CA2260527981NAGLUc.721G= (p.Val241=)
c.323G=
c.316G= (p.Val106=)
c.-22G= (n.-22G=)
c.778G= (p.Val260=)
17g.42538712G>TCA399598998NAGLUc.721G>T (p.Val241Leu)
c.323G>T
c.316G>T (p.Val106Leu)
c.-22G>T (n.-22G>T)
c.778G>T (p.Val260Leu)
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.42538713T>ACA399599000NAGLUc.722T>A (p.Val241Glu)
c.324T>A
c.317T>A (p.Val106Glu)
c.-21T>A (n.-21T>A)
c.779T>A (p.Val260Glu)
17g.42538713T>CCA399599002NAGLUc.722T>C (p.Val241Ala)
c.324T>C
c.317T>C (p.Val106Ala)
c.-21T>C (n.-21T>C)
c.779T>C (p.Val260Ala)
 dbSNP gnomAD v3 gnomAD v4
17g.42538713T>GCA399599004NAGLUc.722T>G (p.Val241Gly)
c.324T>G
c.317T>G (p.Val106Gly)
c.-21T>G (n.-21T>G)
c.779T>G (p.Val260Gly)
17g.42538713T=CA2260527982NAGLUc.722T= (p.Val241=)
c.324T=
c.317T= (p.Val106=)
c.-21T= (n.-21T=)
c.779T= (p.Val260=)
17g.42538714G>ACA8576836NAGLUc.723G>A (p.Val241=)
c.325G>A
c.318G>A (p.Val106=)
c.-20G>A (n.-20G>A)
c.780G>A (p.Val260=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42538714G>CCA500216505NAGLUc.723G>C (p.Val241=)
c.325G>C
c.318G>C (p.Val106=)
c.-20G>C (n.-20G>C)
c.780G>C (p.Val260=)
17g.42538714G=CA2260527983NAGLUc.723G= (p.Val241=)
c.325G=
c.318G= (p.Val106=)
c.-20G= (n.-20G=)
c.780G= (p.Val260=)
17g.42538714G>TCA500216504NAGLUc.723G>T (p.Val241=)
c.325G>T
c.318G>T (p.Val106=)
c.-20G>T (n.-20G>T)
c.780G>T (p.Val260=)
17g.42538715C>ACA399599007NAGLUc.724C>A (p.Leu242Met)
c.326C>A
c.319C>A (p.Leu107Met)
c.-19C>A (n.-19C>A)
c.781C>A (p.Leu261Met)
17g.42538715C=CA2260527984NAGLUc.724C= (p.Leu242=)
c.326C=
c.319C= (p.Leu107=)
c.-19C= (n.-19C=)
c.781C= (p.Leu261=)
17g.42538715C>GCA399599006NAGLUc.724C>G (p.Leu242Val)
c.326C>G
c.319C>G (p.Leu107Val)
c.-19C>G (n.-19C>G)
c.781C>G (p.Leu261Val)
17g.42538715C>TCA500216506NAGLUc.724C>T (p.Leu242=)
c.326C>T
c.319C>T (p.Leu107=)
c.-19C>T (n.-19C>T)
c.781C>T (p.Leu261=)
 dbSNP gnomAD v3 gnomAD v4
17g.42538716T>ACA399599008NAGLUc.725T>A (p.Leu242Gln)
c.327T>A
c.320T>A (p.Leu107Gln)
c.-18T>A (n.-18T>A)
c.782T>A (p.Leu261Gln)
17g.42538716T>CCA399599010NAGLUc.725T>C (p.Leu242Pro)
c.327T>C
c.320T>C (p.Leu107Pro)
c.-18T>C (n.-18T>C)
c.782T>C (p.Leu261Pro)
 ClinVar
17g.42538716T>GCA399599012NAGLUc.725T>G (p.Leu242Arg)
c.327T>G
c.320T>G (p.Leu107Arg)
c.-18T>G (n.-18T>G)
c.782T>G (p.Leu261Arg)
17g.42538717G>ACA500216508NAGLUc.726G>A (p.Leu242=)
c.328G>A
c.321G>A (p.Leu107=)
c.-17G>A (n.-17G>A)
c.783G>A (p.Leu261=)
 dbSNP gnomAD v3 gnomAD v4
17g.42538717G>CCA500216507NAGLUc.726G>C (p.Leu242=)
c.328G>C
c.321G>C (p.Leu107=)
c.-17G>C (n.-17G>C)
c.783G>C (p.Leu261=)
17g.42538717G=CA2260527985NAGLUc.726G= (p.Leu242=)
c.328G=
c.321G= (p.Leu107=)
c.-17G= (n.-17G=)
c.783G= (p.Leu261=)
17g.42538717G>TCA500216509NAGLUc.726G>T (p.Leu242=)
c.328G>T
c.321G>T (p.Leu107=)
c.-17G>T (n.-17G>T)
c.783G>T (p.Leu261=)
 dbSNP gnomAD v2
17g.42538718C>ACA399599014NAGLUc.727C>A (p.Pro243Thr)
c.329C>A
c.322C>A (p.Pro108Thr)
c.-16C>A (n.-16C>A)
c.784C>A (p.Pro262Thr)
 dbSNP gnomAD v2 gnomAD v4
17g.42538718C=CA2260527986NAGLUc.727C= (p.Pro243=)
c.329C=
c.322C= (p.Pro108=)
c.-16C= (n.-16C=)
c.784C= (p.Pro262=)
17g.42538718C>GCA399599015NAGLUc.727C>G (p.Pro243Ala)
c.329C>G
c.322C>G (p.Pro108Ala)
c.-16C>G (n.-16C>G)
c.784C>G (p.Pro262Ala)
 COSMIC
17g.42538718C>TCA8576837NAGLUc.727C>T (p.Pro243Ser)
c.329C>T
c.322C>T (p.Pro108Ser)
c.-16C>T (n.-16C>T)
c.784C>T (p.Pro262Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42538719C>ACA399599018NAGLUc.728C>A (p.Pro243His)
c.330C>A
c.323C>A (p.Pro108His)
c.-15C>A (n.-15C>A)
c.785C>A (p.Pro262His)
17g.42538719C>GCA399599021NAGLUc.728C>G (p.Pro243Arg)
c.330C>G
c.323C>G (p.Pro108Arg)
c.-15C>G (n.-15C>G)
c.785C>G (p.Pro262Arg)
17g.42538719C>TCA399599022NAGLUc.728C>T (p.Pro243Leu)
c.330C>T
c.323C>T (p.Pro108Leu)
c.-15C>T (n.-15C>T)
c.785C>T (p.Pro262Leu)
 gnomAD v4
17g.42538720T>ACA500216511NAGLUc.729T>A (p.Pro243=)
c.331T>A
c.324T>A (p.Pro108=)
c.-14T>A (n.-14T>A)
c.786T>A (p.Pro262=)
17g.42538720T>CCA500216510NAGLUc.729T>C (p.Pro243=)
c.331T>C
c.324T>C (p.Pro108=)
c.-14T>C (n.-14T>C)
c.786T>C (p.Pro262=)
17g.42538720T>GCA290773447NAGLUc.729T>G (p.Pro243=)
c.331T>G
c.324T>G (p.Pro108=)
c.-14T>G (n.-14T>G)
c.786T>G (p.Pro262=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.42538720T=CA2260527987NAGLUc.729T= (p.Pro243=)
c.331T=
c.324T= (p.Pro108=)
c.-14T= (n.-14T=)
c.786T= (p.Pro262=)
17g.42538721G>ACA8576838NAGLUc.730G>A (p.Ala244Thr)
c.332G>A
c.325G>A (p.Ala109Thr)
c.-13G>A (n.-13G>A)
c.787G>A (p.Ala263Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.42538721G>CCA399599025NAGLUc.730G>C (p.Ala244Pro)
c.332G>C
c.325G>C (p.Ala109Pro)
c.-13G>C (n.-13G>C)
c.787G>C (p.Ala263Pro)
17g.42538721G=CA2260527988NAGLUc.730G= (p.Ala244=)
c.332G=
c.325G= (p.Ala109=)
c.-13G= (n.-13G=)
c.787G= (p.Ala263=)
17g.42538721G>TCA399599027NAGLUc.730G>T (p.Ala244Ser)
c.332G>T
c.325G>T (p.Ala109Ser)
c.-13G>T (n.-13G>T)
c.787G>T (p.Ala263Ser)
17g.42538722C>ACA399599029NAGLUc.731C>A (p.Ala244Glu)
c.333C>A
c.326C>A (p.Ala109Glu)
c.-12C>A (n.-12C>A)
c.788C>A (p.Ala263Glu)
17g.42538722C>GCA399599032NAGLUc.731C>G (p.Ala244Gly)
c.333C>G
c.326C>G (p.Ala109Gly)
c.-12C>G (n.-12C>G)
c.788C>G (p.Ala263Gly)
17g.42538722C>TCA399599030NAGLUc.731C>T (p.Ala244Val)
c.333C>T
c.326C>T (p.Ala109Val)
c.-12C>T (n.-12C>T)
c.788C>T (p.Ala263Val)
17g.42538723A=CA2260527989NAGLUc.732A= (p.Ala244=)
c.334A=
c.327A= (p.Ala109=)
c.-11A= (n.-11A=)
c.789A= (p.Ala263=)
17g.42538723A>CCA8576839NAGLUc.732A>C (p.Ala244=)
c.334A>C
c.327A>C (p.Ala109=)
c.-11A>C (n.-11A>C)
c.789A>C (p.Ala263=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42538723A>GCA500216512NAGLUc.732A>G (p.Ala244=)
c.334A>G
c.327A>G (p.Ala109=)
c.-11A>G (n.-11A>G)
c.789A>G (p.Ala263=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.42538723A>TCA500216513NAGLUc.732A>T (p.Ala244=)
c.334A>T
c.327A>T (p.Ala109=)
c.-11A>T (n.-11A>T)
c.789A>T (p.Ala263=)
17g.42538724T>ACA399599037NAGLUc.733T>A (p.Phe245Ile)
c.335T>A
c.328T>A (p.Phe110Ile)
c.-10T>A (n.-10T>A)
c.790T>A (p.Phe264Ile)
17g.42538724T>CCA399599036NAGLUc.733T>C (p.Phe245Leu)
c.335T>C
c.328T>C (p.Phe110Leu)
c.-10T>C (n.-10T>C)
c.790T>C (p.Phe264Leu)
 ClinVar
17g.42538724T>GCA399599038NAGLUc.733T>G (p.Phe245Val)
c.335T>G
c.328T>G (p.Phe110Val)
c.-10T>G (n.-10T>G)
c.790T>G (p.Phe264Val)
17g.42538727_42538739dupCA2740095354NAGLUc.736_748dup (p.Pro250ArgfsTer27)
c.338_350dup
c.331_343dup (p.Pro115ArgfsTer?)
c.-7_6dup (p.Pro3AlafsTer?)
c.-7_6dup (p.Pro3AlafsTer13)
c.793_805dup (p.Pro269ArgfsTer27)
 ClinVar
17g.42538725T>ACA399599041NAGLUc.734T>A (p.Phe245Tyr)
c.336T>A
c.329T>A (p.Phe110Tyr)
c.-9T>A (n.-9T>A)
c.791T>A (p.Phe264Tyr)
17g.42538725T>CCA399599042NAGLUc.734T>C (p.Phe245Ser)
c.336T>C
c.329T>C (p.Phe110Ser)
c.-9T>C (n.-9T>C)
c.791T>C (p.Phe264Ser)
17g.42538725T>GCA399599044NAGLUc.734T>G (p.Phe245Cys)
c.336T>G
c.329T>G (p.Phe110Cys)
c.-9T>G (n.-9T>G)
c.791T>G (p.Phe264Cys)
17g.42538726C>ACA399599046NAGLUc.735C>A (p.Phe245Leu)
c.337C>A
c.330C>A (p.Phe110Leu)
c.-8C>A (n.-8C>A)
c.792C>A (p.Phe264Leu)
17g.42538726C=CA2260527990NAGLUc.735C= (p.Phe245=)
c.337C=
c.330C= (p.Phe110=)
c.-8C= (n.-8C=)
c.792C= (p.Phe264=)
17g.42538726C>GCA399599048NAGLUc.735C>G (p.Phe245Leu)
c.337C>G
c.330C>G (p.Phe110Leu)
c.-8C>G (n.-8C>G)
c.792C>G (p.Phe264Leu)
17g.42538726C>TCA8576840NAGLUc.735C>T (p.Phe245=)
c.337C>T
c.330C>T (p.Phe110=)
c.-8C>T (n.-8C>T)
c.792C>T (p.Phe264=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42538727delCA500216514NAGLUc.736del (p.Ala246ArgfsTer?)
c.338del
c.331del (p.Ala111ArgfsTer?)
c.-7del (n.-7del)
c.793del (p.Ala265ArgfsTer?)
 COSMIC
17g.42538727G>ACA399599050NAGLUc.736G>A (p.Ala246Thr)
c.338G>A
c.331G>A (p.Ala111Thr)
c.-7G>A (n.-7G>A)
c.793G>A (p.Ala265Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.42538727G>CCA399599052NAGLUc.736G>C (p.Ala246Pro)
c.338G>C
c.331G>C (p.Ala111Pro)
c.-7G>C (n.-7G>C)
c.793G>C (p.Ala265Pro)
 ClinVar dbSNP gnomAD v4
17g.42538727G=CA2260527991NAGLUc.736G= (p.Ala246=)
c.338G=
c.331G= (p.Ala111=)
c.-7G= (n.-7G=)
c.793G= (p.Ala265=)
17g.42538727G>TCA399599054NAGLUc.736G>T (p.Ala246Ser)
c.338G>T
c.331G>T (p.Ala111Ser)
c.-7G>T (n.-7G>T)
c.793G>T (p.Ala265Ser)
 gnomAD v3 gnomAD v4
17g.42538728C>ACA399599056NAGLUc.737C>A (p.Ala246Glu)
c.339C>A
c.332C>A (p.Ala111Glu)
c.-6C>A (n.-6C>A)
c.794C>A (p.Ala265Glu)
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.42538728C=CA2260527992NAGLUc.737C= (p.Ala246=)
c.339C=
c.332C= (p.Ala111=)
c.-6C= (n.-6C=)
c.794C= (p.Ala265=)
17g.42538728C>GCA399599057NAGLUc.737C>G (p.Ala246Gly)
c.339C>G
c.332C>G (p.Ala111Gly)
c.-6C>G (n.-6C>G)
c.794C>G (p.Ala265Gly)
17g.42538728C>TCA399599058NAGLUc.737C>T (p.Ala246Val)
c.339C>T
c.332C>T (p.Ala111Val)
c.-6C>T (n.-6C>T)
c.794C>T (p.Ala265Val)
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.42538729G>ACA8576841NAGLUc.738G>A (p.Ala246=)
c.340G>A
c.333G>A (p.Ala111=)
c.-5G>A (n.-5G>A)
c.795G>A (p.Ala265=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42538729G>CCA500216516NAGLUc.738G>C (p.Ala246=)
c.340G>C
c.333G>C (p.Ala111=)
c.-5G>C (n.-5G>C)
c.795G>C (p.Ala265=)
 ClinVar gnomAD v4
17g.42538729G=CA2260527993NAGLUc.738G= (p.Ala246=)
c.340G=
c.333G= (p.Ala111=)
c.-5G= (n.-5G=)
c.795G= (p.Ala265=)
17g.42538729G>TCA500216515NAGLUc.738G>T (p.Ala246=)
c.340G>T
c.333G>T (p.Ala111=)
c.-5G>T (n.-5G>T)
c.795G>T (p.Ala265=)
17g.42538732delCA2580093988NAGLUc.741del (p.His248MetfsTer?)
c.343del
c.336del (p.His113MetfsTer?)
c.-2del (n.-2del)
c.798del (p.His267MetfsTer?)
 ClinVar
17g.42538730G>ACA399599064NAGLUc.739G>A (p.Gly247Arg)
c.341G>A
c.334G>A (p.Gly112Arg)
c.-4G>A (n.-4G>A)
c.796G>A (p.Gly266Arg)
17g.42538730G>CCA399599061NAGLUc.739G>C (p.Gly247Arg)
c.341G>C
c.334G>C (p.Gly112Arg)
c.-4G>C (n.-4G>C)
c.796G>C (p.Gly266Arg)
17g.42538730G>TCA399599063NAGLUc.739G>T (p.Gly247Trp)
c.341G>T
c.334G>T (p.Gly112Trp)
c.-4G>T (n.-4G>T)
c.796G>T (p.Gly266Trp)
 ClinVar
17g.42538731G>ACA399599066NAGLUc.740G>A (p.Gly247Glu)
c.342G>A
c.335G>A (p.Gly112Glu)
c.-3G>A (n.-3G>A)
c.797G>A (p.Gly266Glu)
17g.42538731G>CCA399599068NAGLUc.740G>C (p.Gly247Ala)
c.342G>C
c.335G>C (p.Gly112Ala)
c.-3G>C (n.-3G>C)
c.797G>C (p.Gly266Ala)
 gnomAD v4
17g.42538731G>TCA399599070NAGLUc.740G>T (p.Gly247Val)
c.342G>T
c.335G>T (p.Gly112Val)
c.-3G>T (n.-3G>T)
c.797G>T (p.Gly266Val)
17g.42538732G>ACA500216517NAGLUc.741G>A (p.Gly247=)
c.343G>A
c.336G>A (p.Gly112=)
c.-2G>A (n.-2G>A)
c.798G>A (p.Gly266=)
 gnomAD v4
17g.42538732G>CCA8576842NAGLUc.741G>C (p.Gly247=)
c.343G>C
c.336G>C (p.Gly112=)
c.-2G>C (n.-2G>C)
c.798G>C (p.Gly266=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42538732G=CA2260527994NAGLUc.741G= (p.Gly247=)
c.343G=
c.336G= (p.Gly112=)
c.-2G= (n.-2G=)
c.798G= (p.Gly266=)
17g.42538732G>TCA500216518NAGLUc.741G>T (p.Gly247=)
c.343G>T
c.336G>T (p.Gly112=)
c.-2G>T (n.-2G>T)
c.798G>T (p.Gly266=)
17g.42538733C>ACA399599073NAGLUc.742C>A (p.His248Asn)
c.344C>A
c.337C>A (p.His113Asn)
c.-1C>A (n.-1C>A)
c.799C>A (p.His267Asn)
17g.42538733C>GCA399599075NAGLUc.742C>G (p.His248Asp)
c.344C>G
c.337C>G (p.His113Asp)
c.-1C>G (n.-1C>G)
c.799C>G (p.His267Asp)
17g.42538733C>TCA399599076NAGLUc.742C>T (p.His248Tyr)
c.344C>T
c.337C>T (p.His113Tyr)
c.-1C>T (n.-1C>T)
c.799C>T (p.His267Tyr)
 gnomAD v4
17g.42538734A=CA2260527995NAGLUc.743A= (p.His248=)
c.345A=
c.338A= (p.His113=)
c.1A= (p.Met1=)
c.800A= (p.His267=)
17g.42538734A>CCA399599079NAGLUc.743A>C (p.His248Pro)
c.345A>C
c.338A>C (p.His113Pro)
c.1A>C (p.Met1Leu)
c.800A>C (p.His267Pro)
 gnomAD v4
17g.42538734A>GCA399599080NAGLUc.743A>G (p.His248Arg)
c.345A>G
c.338A>G (p.His113Arg)
c.1A>G (p.Met1Val)
c.800A>G (p.His267Arg)
 dbSNP gnomAD v2 gnomAD v4
17g.42538734A>TCA399599082NAGLUc.743A>T (p.His248Leu)
c.345A>T
c.338A>T (p.His113Leu)
c.1A>T (p.Met1Leu)
c.800A>T (p.His267Leu)
 dbSNP
17g.42538735T>ACA399599084NAGLUc.744T>A (p.His248Gln)
c.346T>A
c.339T>A (p.His113Gln)
c.2T>A (p.Met1Lys)
c.801T>A (p.His267Gln)
17g.42538735T>CCA500216519NAGLUc.744T>C (p.His248=)
c.346T>C
c.339T>C (p.His113=)
c.2T>C (p.Met1Thr)
c.801T>C (p.His267=)
 ClinVar dbSNP gnomAD v4
17g.42538735T>GCA399599086NAGLUc.744T>G (p.His248Gln)
c.346T>G
c.339T>G (p.His113Gln)
c.2T>G (p.Met1Arg)
c.801T>G (p.His267Gln)
17g.42538735T=CA2260527996NAGLUc.744T= (p.His248=)
c.346T=
c.339T= (p.His113=)
c.2T= (p.Met1=)
c.801T= (p.His267=)
17g.42538736G>ACA399599087NAGLUc.745G>A (p.Val249Ile)
c.347G>A
c.340G>A (p.Val114Ile)
c.3G>A (p.Met1Ile)
c.802G>A (p.Val268Ile)
 ClinVar dbSNP
17g.42538736G>CCA399599090NAGLUc.745G>C (p.Val249Leu)
c.347G>C
c.340G>C (p.Val114Leu)
c.3G>C (p.Met1Ile)
c.802G>C (p.Val268Leu)
17g.42538736G=CA2260527997NAGLUc.745G= (p.Val249=)
c.347G=
c.340G= (p.Val114=)
c.3G= (p.Met1=)
c.802G= (p.Val268=)
17g.42538736G>TCA399599088NAGLUc.745G>T (p.Val249Phe)
c.347G>T
c.340G>T (p.Val114Phe)
c.3G>T (p.Met1Ile)
c.802G>T (p.Val268Phe)
17g.42538737T>ACA399599092NAGLUc.746T>A (p.Val249Asp)
c.348T>A
c.341T>A (p.Val114Asp)
c.4T>A (p.Phe2Ile)
c.803T>A (p.Val268Asp)
17g.42538737T>CCA399599094NAGLUc.746T>C (p.Val249Ala)
c.348T>C
c.341T>C (p.Val114Ala)
c.4T>C (p.Phe2Leu)
c.803T>C (p.Val268Ala)
17g.42538737T>GCA399599096NAGLUc.746T>G (p.Val249Gly)
c.348T>G
c.341T>G (p.Val114Gly)
c.4T>G (p.Phe2Val)
c.803T>G (p.Val268Gly)
17g.42538738T>ACA500216521NAGLUc.747T>A (p.Val249=)
c.349T>A
c.342T>A (p.Val114=)
c.5T>A (p.Phe2Tyr)
c.804T>A (p.Val268=)
 dbSNP
17g.42538738T>CCA500216522NAGLUc.747T>C (p.Val249=)
c.349T>C
c.342T>C (p.Val114=)
c.5T>C (p.Phe2Ser)
c.804T>C (p.Val268=)
 gnomAD v4
17g.42538738T>GCA500216520NAGLUc.747T>G (p.Val249=)
c.349T>G
c.342T>G (p.Val114=)
c.5T>G (p.Phe2Cys)
c.804T>G (p.Val268=)
17g.42538738T=CA2260527998NAGLUc.747T= (p.Val249=)
c.349T=
c.342T= (p.Val114=)
c.5T= (p.Phe2=)
c.804T= (p.Val268=)
17g.42538739C>ACA399599098NAGLUc.748C>A (p.Pro250Thr)
c.350C>A
c.343C>A (p.Pro115Thr)
c.6C>A (p.Phe2Leu)
c.805C>A (p.Pro269Thr)
17g.42538739C=CA2260527999NAGLUc.748C= (p.Pro250=)
c.350C=
c.343C= (p.Pro115=)
c.6C= (p.Phe2=)
c.805C= (p.Pro269=)
17g.42538739C>GCA399599099NAGLUc.748C>G (p.Pro250Ala)
c.350C>G
c.343C>G (p.Pro115Ala)
c.6C>G (p.Phe2Leu)
c.805C>G (p.Pro269Ala)
17g.42538739C>TCA399599101NAGLUc.748C>T (p.Pro250Ser)
c.350C>T
c.343C>T (p.Pro115Ser)
c.6C>T (p.Phe2=)
c.805C>T (p.Pro269Ser)
 dbSNP gnomAD v4
17g.42538740C>ACA399599102NAGLUc.749C>A (p.Pro250His)
c.351C>A
c.344C>A (p.Pro115His)
c.7C>A (p.Pro3Thr)
c.806C>A (p.Pro269His)
17g.42538740C>GCA399599104NAGLUc.749C>G (p.Pro250Arg)
c.351C>G
c.344C>G (p.Pro115Arg)
c.7C>G (p.Pro3Ala)
c.806C>G (p.Pro269Arg)
17g.42538740C>TCA399599106NAGLUc.749C>T (p.Pro250Leu)
c.351C>T
c.344C>T (p.Pro115Leu)
c.7C>T (p.Pro3Ser)
c.806C>T (p.Pro269Leu)
 gnomAD v4
17g.42538741C>ACA500216524NAGLUc.750C>A (p.Pro250=)
c.352C>A
c.345C>A (p.Pro115=)
c.8C>A (p.Pro3Gln)
c.807C>A (p.Pro269=)
17g.42538741C=CA2260528000NAGLUc.750C= (p.Pro250=)
c.352C=
c.345C= (p.Pro115=)
c.8C= (p.Pro3=)
c.807C= (p.Pro269=)
17g.42538741C>GCA500216523NAGLUc.750C>G (p.Pro250=)
c.352C>G
c.345C>G (p.Pro115=)
c.8C>G (p.Pro3Arg)
c.807C>G (p.Pro269=)
 ClinVar dbSNP
17g.42538741C>TCA8576843NAGLUc.750C>T (p.Pro250=)
c.352C>T
c.345C>T (p.Pro115=)
c.8C>T (p.Pro3Leu)
c.807C>T (p.Pro269=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42538742G>ACA8576844NAGLUc.751G>A (p.Glu251Lys)
c.353G>A
c.346G>A (p.Glu116Lys)
c.9G>A (p.Pro3=)
c.808G>A (p.Glu270Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.42538742G>CCA399599109NAGLUc.751G>C (p.Glu251Gln)
c.353G>C
c.346G>C (p.Glu116Gln)
c.9G>C (p.Pro3=)
c.808G>C (p.Glu270Gln)
 gnomAD v4
17g.42538742G=CA2260528001NAGLUc.751G= (p.Glu251=)
c.353G=
c.346G= (p.Glu116=)
c.9G= (p.Pro3=)
c.808G= (p.Glu270=)
17g.42538742G>TCA399599111NAGLUc.751G>T (p.Glu251Ter)
c.353G>T
c.346G>T (p.Glu116Ter)
c.9G>T (p.Pro3=)
c.808G>T (p.Glu270Ter)
17g.42538743A>CCA399599113NAGLUc.752A>C (p.Glu251Ala)
c.354A>C
c.347A>C (p.Glu116Ala)
c.10A>C (p.Arg4=)
c.809A>C (p.Glu270Ala)
17g.42538743A>GCA399599117NAGLUc.752A>G (p.Glu251Gly)
c.354A>G
c.347A>G (p.Glu116Gly)
c.10A>G (p.Arg4Gly)
c.809A>G (p.Glu270Gly)
17g.42538743A>TCA399599115NAGLUc.752A>T (p.Glu251Val)
c.354A>T
c.347A>T (p.Glu116Val)
c.10A>T (p.Arg4Trp)
c.809A>T (p.Glu270Val)
17g.42538744G>ACA8576845NAGLUc.753G>A (p.Glu251=)
c.355G>A
c.348G>A (p.Glu116=)
c.11G>A (p.Arg4Lys)
c.810G>A (p.Glu270=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.42538744G>CCA399599118NAGLUc.753G>C (p.Glu251Asp)
c.355G>C
c.348G>C (p.Glu116Asp)
c.11G>C (p.Arg4Thr)
c.810G>C (p.Glu270Asp)
17g.42538744G=CA2260528002NAGLUc.753G= (p.Glu251=)
c.355G=
c.348G= (p.Glu116=)
c.11G= (p.Arg4=)
c.810G= (p.Glu270=)
17g.42538744G>TCA399599120NAGLUc.753G>T (p.Glu251Asp)
c.355G>T
c.348G>T (p.Glu116Asp)
c.11G>T (p.Arg4Met)
c.810G>T (p.Glu270Asp)
17g.42538745G>ACA399599122NAGLUc.754G>A (p.Ala252Thr)
c.356G>A
c.349G>A (p.Ala117Thr)
c.12G>A (p.Arg4=)
c.811G>A (p.Ala271Thr)
17g.42538745G>CCA399599123NAGLUc.754G>C (p.Ala252Pro)
c.356G>C
c.349G>C (p.Ala117Pro)
c.12G>C (p.Arg4Ser)
c.811G>C (p.Ala271Pro)
17g.42538745G>TCA399599124NAGLUc.754G>T (p.Ala252Ser)
c.356G>T
c.349G>T (p.Ala117Ser)
c.12G>T (p.Arg4Ser)
c.811G>T (p.Ala271Ser)
17g.42538746C>ACA399599126NAGLUc.755C>A (p.Ala252Asp)
c.357C>A
c.350C>A (p.Ala117Asp)
c.13C>A (p.Leu5Met)
c.812C>A (p.Ala271Asp)
17g.42538746C>GCA399599128NAGLUc.755C>G (p.Ala252Gly)
c.357C>G
c.350C>G (p.Ala117Gly)
c.13C>G (p.Leu5Val)
c.812C>G (p.Ala271Gly)
17g.42538746C>TCA399599130NAGLUc.755C>T (p.Ala252Val)
c.357C>T
c.350C>T (p.Ala117Val)
c.13C>T (p.Leu5=)
c.812C>T (p.Ala271Val)
 gnomAD v4
17g.42538747T>ACA500216525NAGLUc.756T>A (p.Ala252=)
c.358T>A
c.351T>A (p.Ala117=)
c.14T>A (p.Leu5Gln)
c.813T>A (p.Ala271=)
17g.42538747T>CCA290773485NAGLUc.756T>C (p.Ala252=)
c.358T>C
c.351T>C (p.Ala117=)
c.14T>C (p.Leu5Pro)
c.813T>C (p.Ala271=)
 dbSNP gnomAD v4
17g.42538747T>GCA500216526NAGLUc.756T>G (p.Ala252=)
c.358T>G
c.351T>G (p.Ala117=)
c.14T>G (p.Leu5Arg)
c.813T>G (p.Ala271=)
 ClinVar dbSNP
17g.42538747T=CA2260528003NAGLUc.756T= (p.Ala252=)
c.358T=
c.351T= (p.Ala117=)
c.14T= (p.Leu5=)
c.813T= (p.Ala271=)
17g.42538748G>ACA8576846NAGLUc.757G>A (p.Val253Ile)
c.359G>A
c.352G>A (p.Val118Ile)
c.15G>A (p.Leu5=)
c.814G>A (p.Val272Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42538748G>CCA399599133NAGLUc.757G>C (p.Val253Leu)
c.359G>C
c.352G>C (p.Val118Leu)
c.15G>C (p.Leu5=)
c.814G>C (p.Val272Leu)
17g.42538748G=CA2260528004NAGLUc.757G= (p.Val253=)
c.359G=
c.352G= (p.Val118=)
c.15G= (p.Leu5=)
c.814G= (p.Val272=)
17g.42538748G>TCA399599132NAGLUc.757G>T (p.Val253Phe)
c.359G>T
c.352G>T (p.Val118Phe)
c.15G>T (p.Leu5=)
c.814G>T (p.Val272Phe)
17g.42538749T>ACA399599138NAGLUc.758T>A (p.Val253Asp)
c.360T>A
c.353T>A (p.Val118Asp)
c.16T>A (p.Ser6Thr)
c.815T>A (p.Val272Asp)
17g.42538749T>CCA399599135NAGLUc.758T>C (p.Val253Ala)
c.360T>C
c.353T>C (p.Val118Ala)
c.16T>C (p.Ser6Pro)
c.815T>C (p.Val272Ala)
17g.42538749T>GCA399599136NAGLUc.758T>G (p.Val253Gly)
c.360T>G
c.353T>G (p.Val118Gly)
c.16T>G (p.Ser6Ala)
c.815T>G (p.Val272Gly)
17g.42538750C>ACA500216529NAGLUc.759C>A (p.Val253=)
c.361C>A
c.354C>A (p.Val118=)
c.17C>A (p.Ser6Ter)
c.816C>A (p.Val272=)
17g.42538750C>GCA500216527NAGLUc.759C>G (p.Val253=)
c.361C>G
c.354C>G (p.Val118=)
c.17C>G (p.Ser6Ter)
c.816C>G (p.Val272=)
17g.42538750C>TCA500216528NAGLUc.759C>T (p.Val253=)
c.361C>T
c.354C>T (p.Val118=)
c.17C>T (p.Ser6Leu)
c.816C>T (p.Val272=)
 ClinVar gnomAD v4
17g.42538751A>CCA399599140NAGLUc.760A>C (p.Thr254Pro)
c.362A>C
c.355A>C (p.Thr119Pro)
c.18A>C (p.Ser6=)
c.817A>C (p.Thr273Pro)
17g.42538751A>GCA399599142NAGLUc.760A>G (p.Thr254Ala)
c.362A>G
c.355A>G (p.Thr119Ala)
c.18A>G (p.Ser6=)
c.817A>G (p.Thr273Ala)
17g.42538751A>TCA399599143NAGLUc.760A>T (p.Thr254Ser)
c.362A>T
c.355A>T (p.Thr119Ser)
c.18A>T (p.Ser6=)
c.817A>T (p.Thr273Ser)
17g.42538752C>ACA399599147NAGLUc.761C>A (p.Thr254Asn)
c.363C>A
c.356C>A (p.Thr119Asn)
c.19C>A (p.Pro7Thr)
c.818C>A (p.Thr273Asn)
17g.42538752C=CA2260528005NAGLUc.761C= (p.Thr254=)
c.363C=
c.356C= (p.Thr119=)
c.19C= (p.Pro7=)
c.818C= (p.Thr273=)
17g.42538752C>GCA399599146NAGLUc.761C>G (p.Thr254Ser)
c.363C>G
c.356C>G (p.Thr119Ser)
c.19C>G (p.Pro7Ala)
c.818C>G (p.Thr273Ser)
17g.42538752C>TCA8576847NAGLUc.761C>T (p.Thr254Ile)
c.363C>T
c.356C>T (p.Thr119Ile)
c.19C>T (p.Pro7Ser)
c.818C>T (p.Thr273Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.42538753C>ACA500216531NAGLUc.762C>A (p.Thr254=)
c.364C>A
c.357C>A (p.Thr119=)
c.20C>A (p.Pro7Gln)
c.819C>A (p.Thr273=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.42538753C=CA2260528006NAGLUc.762C= (p.Thr254=)
c.364C=
c.357C= (p.Thr119=)
c.20C= (p.Pro7=)
c.819C= (p.Thr273=)
17g.42538753C>GCA500216532NAGLUc.762C>G (p.Thr254=)
c.364C>G
c.357C>G (p.Thr119=)
c.20C>G (p.Pro7Arg)
c.819C>G (p.Thr273=)
17g.42538753C>TCA500216530NAGLUc.762C>T (p.Thr254=)
c.364C>T
c.357C>T (p.Thr119=)
c.20C>T (p.Pro7Leu)
c.819C>T (p.Thr273=)
 ClinVar gnomAD v4
17g.42538754A>CCA399599149NAGLUc.763A>C (p.Arg255=)
c.365A>C
c.358A>C (p.Ser120Arg)
c.21A>C (p.Pro7=)
c.820A>C (p.Arg274=)
 ClinVar gnomAD v4
17g.42538754A>GCA399599151NAGLUc.763A>G (p.Arg255Gly)
c.365A>G
c.358A>G (p.Ser120Gly)
c.21A>G (p.Pro7=)
c.820A>G (p.Arg274Gly)
17g.42538754A>TCA399599153NAGLUc.763A>T (p.Arg255Trp)
c.365A>T
c.358A>T (p.Ser120Cys)
c.21A>T (p.Pro7=)
c.820A>T (p.Arg274Trp)
 ClinVar gnomAD v4
17g.42538754dupCA2695226064NAGLUc.763dup (p.Arg255LysfsTer18)
c.365dup
c.358dup (p.Ser120LysfsTer?)
c.21dup (p.Asp8ArgfsTer?)
c.21dup (p.Val8SerfsTer4)
c.820dup (p.Arg274LysfsTer18)
17g.42538755G>ACA399599155NAGLUc.764G>A (p.Arg255Lys)
c.366G>A
c.359G>A (p.Ser120Asn)
c.22G>A (p.Asp8Asn)
c.22G>A (p.Val8Met)
c.821G>A (p.Arg274Lys)
17g.42538755G>CCA399599156NAGLUc.764G>C (p.Arg255Thr)
c.366G>C
c.359G>C (p.Ser120Thr)
c.22G>C (p.Asp8His)
c.22G>C (p.Val8Leu)
c.821G>C (p.Arg274Thr)
 ClinVar dbSNP
17g.42538755G>TCA399599158NAGLUc.764G>T (p.Arg255Met)
c.366G>T
c.359G>T (p.Ser120Ile)
c.22G>T (p.Asp8Tyr)
c.22G>T (p.Val8Leu)
c.821G>T (p.Arg274Met)
17g.42538756G>ACA399599160NAGLUc.764+1G>A (n.764+1G>A)
c.366+1G>A
c.359+1G>A (n.359+1G>A)
c.22+1G>A (n.22+1G>A)
c.821+1G>A (n.821+1G>A)
 gnomAD v4
17g.42538756G>CCA399599164NAGLUc.764+1G>C (n.764+1G>C)
c.366+1G>C
c.359+1G>C (n.359+1G>C)
c.22+1G>C (n.22+1G>C)
c.821+1G>C (n.821+1G>C)
17g.42538756G>TCA399599162NAGLUc.764+1G>T (n.764+1G>T)
c.366+1G>T
c.359+1G>T (n.359+1G>T)
c.22+1G>T (n.22+1G>T)
c.821+1G>T (n.821+1G>T)
17g.42538757T>ACA399599166NAGLUc.764+2T>A (n.764+2T>A)
c.366+2T>A
c.359+2T>A (n.359+2T>A)
c.22+2T>A (n.22+2T>A)
c.821+2T>A (n.821+2T>A)
17g.42538757T>CCA399599167NAGLUc.764+2T>C (n.764+2T>C)
c.366+2T>C
c.359+2T>C (n.359+2T>C)
c.22+2T>C (n.22+2T>C)
c.821+2T>C (n.821+2T>C)
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.42538757T>GCA399599169NAGLUc.764+2T>G (n.764+2T>G)
c.366+2T>G
c.359+2T>G (n.359+2T>G)
c.22+2T>G (n.22+2T>G)
c.821+2T>G (n.821+2T>G)
17g.42538757T=CA2260528007NAGLUc.764+2T= (n.764+2T=)
c.366+2T=
c.359+2T= (n.359+2T=)
c.22+2T= (n.22+2T=)
c.821+2T= (n.821+2T=)
17g.42538758G>ACA2260528009NAGLUc.764+3G>A (n.764+3G>A)
c.366+3G>A
c.359+3G>A (n.359+3G>A)
c.22+3G>A (n.22+3G>A)
c.821+3G>A (n.821+3G>A)
 dbSNP
17g.42538758G=CA2260528008NAGLUc.764+3G= (n.764+3G=)
c.366+3G=
c.359+3G= (n.359+3G=)
c.22+3G= (n.22+3G=)
c.821+3G= (n.821+3G=)
17g.42538758G>TCA8576848NAGLUc.764+3G>T (n.764+3G>T)
c.366+3G>T
c.359+3G>T (n.359+3G>T)
c.22+3G>T (n.22+3G>T)
c.821+3G>T (n.821+3G>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42538760G>ACA983829198NAGLUc.764+5G>A (n.764+5G>A)
c.366+5G>A
c.359+5G>A (n.359+5G>A)
c.22+5G>A (n.22+5G>A)
c.821+5G>A (n.821+5G>A)
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.42538760G=CA2260528010NAGLUc.764+5G= (n.764+5G=)
c.366+5G=
c.359+5G= (n.359+5G=)
c.22+5G= (n.22+5G=)
c.821+5G= (n.821+5G=)
17g.42538761delCA2637969901NAGLUc.764+6del (n.764+6del)
c.366+6del
c.359+6del (n.359+6del)
c.22+6del (n.22+6del)
c.821+6del (n.821+6del)
 gnomAD v4
17g.42538761G>ACA8576849NAGLUc.764+6G>A (n.764+6G>A)
c.366+6G>A
c.359+6G>A (n.359+6G>A)
c.22+6G>A (n.22+6G>A)
c.821+6G>A (n.821+6G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.42538761G=CA2260528011NAGLUc.764+6G= (n.764+6G=)
c.366+6G=
c.359+6G= (n.359+6G=)
c.22+6G= (n.22+6G=)
c.821+6G= (n.821+6G=)
17g.42538761G>TCA2576295398NAGLUc.764+6G>T (n.764+6G>T)
c.366+6G>T
c.359+6G>T (n.359+6G>T)
c.22+6G>T (n.22+6G>T)
c.821+6G>T (n.821+6G>T)
17g.42538763T>CCA2573153969NAGLUc.764+8T>C (n.764+8T>C)
c.366+8T>C
c.359+8T>C (n.359+8T>C)
c.22+8T>C (n.22+8T>C)
c.821+8T>C (n.821+8T>C)
 ClinVar dbSNP
17g.42538764C>TCA645588244NAGLUc.764+9C>T (n.764+9C>T)
c.366+9C>T
c.359+9C>T (n.359+9C>T)
c.22+9C>T (n.22+9C>T)
c.821+9C>T (n.821+9C>T)
 ClinVar gnomAD v4 COSMIC
17g.42538765C=CA2260528012NAGLUc.764+10C= (n.764+10C=)
c.366+10C=
c.359+10C= (n.359+10C=)
c.22+10C= (n.22+10C=)
c.821+10C= (n.821+10C=)
17g.42538765C>GCA2260528013NAGLUc.764+10C>G (n.764+10C>G)
c.366+10C>G
c.359+10C>G (n.359+10C>G)
c.22+10C>G (n.22+10C>G)
c.821+10C>G (n.821+10C>G)
 ClinVar dbSNP
17g.42538765C>TCA8576850NAGLUc.764+10C>T (n.764+10C>T)
c.366+10C>T
c.359+10C>T (n.359+10C>T)
c.22+10C>T (n.22+10C>T)
c.821+10C>T (n.821+10C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42538766G>ACA8576851NAGLUc.764+11G>A (n.764+11G>A)
c.366+11G>A
c.359+11G>A (n.359+11G>A)
c.22+11G>A (n.22+11G>A)
c.821+11G>A (n.821+11G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42538766G=CA2260528014NAGLUc.764+11G= (n.764+11G=)
c.366+11G=
c.359+11G= (n.359+11G=)
c.22+11G= (n.22+11G=)
c.821+11G= (n.821+11G=)
17g.42538767C=CA2260528015NAGLUc.764+12C= (n.764+12C=)
c.366+12C=
c.359+12C= (n.359+12C=)
c.22+12C= (n.22+12C=)
c.821+12C= (n.821+12C=)
17g.42538767C>GCA290773526NAGLUc.764+12C>G (n.764+12C>G)
c.366+12C>G
c.359+12C>G (n.359+12C>G)
c.22+12C>G (n.22+12C>G)
c.821+12C>G (n.821+12C>G)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.42538767C>TCA772111646NAGLUc.764+12C>T (n.764+12C>T)
c.366+12C>T
c.359+12C>T (n.359+12C>T)
c.22+12C>T (n.22+12C>T)
c.821+12C>T (n.821+12C>T)
 dbSNP gnomAD v4
17g.42538769C>TCA2576295399NAGLUc.764+14C>T (n.764+14C>T)
c.366+14C>T
c.359+14C>T (n.359+14C>T)
c.22+14C>T (n.22+14C>T)
c.821+14C>T (n.821+14C>T)
 ClinVar
17g.42538770A=CA2260528017NAGLUc.764+15A= (n.764+15A=)
c.366+15A=
c.359+15A= (n.359+15A=)
c.22+15A= (n.22+15A=)
c.821+15A= (n.821+15A=)
17g.42538770A>GCA626218582NAGLUc.764+15A>G (n.764+15A>G)
c.366+15A>G
c.359+15A>G (n.359+15A>G)
c.22+15A>G (n.22+15A>G)
c.821+15A>G (n.821+15A>G)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.42538770dupCA2637969902NAGLUc.764+15dup (n.764+15dup)
c.366+15dup
c.359+15dup (n.359+15dup)
c.22+15dup (n.22+15dup)
c.821+15dup (n.821+15dup)
 gnomAD v4
17g.42538770_42538771delinsACCA2260528016NAGLUc.764+15_764+16delinsAC (n.764+15_764+16delinsAC)
c.366+15_366+16delinsAC
c.359+15_359+16delinsAC (n.359+15_359+16delinsAC)
c.22+15_22+16delinsAC (n.22+15_22+16delinsAC)
c.821+15_821+16delinsAC (n.821+15_821+16delinsAC)
17g.42538771C=CA2260528018NAGLUc.764+16C= (n.764+16C=)
c.366+16C=
c.359+16C= (n.359+16C=)
c.22+16C= (n.22+16C=)
c.821+16C= (n.821+16C=)
17g.42538771C>GCA2637969903NAGLUc.764+16C>G (n.764+16C>G)
c.366+16C>G
c.359+16C>G (n.359+16C>G)
c.22+16C>G (n.22+16C>G)
c.821+16C>G (n.821+16C>G)
 gnomAD v4
17g.42538771C>TCA8576853NAGLUc.764+16C>T (n.764+16C>T)
c.366+16C>T
c.359+16C>T (n.359+16C>T)
c.22+16C>T (n.22+16C>T)
c.821+16C>T (n.821+16C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42538775delCA8576852NAGLUc.764+20del (n.764+20del)
c.366+20del
c.359+20del (n.359+20del)
c.22+20del (n.22+20del)
c.821+20del (n.821+20del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42538772C>ACA2637969904NAGLUc.764+17C>A (n.764+17C>A)
c.366+17C>A
c.359+17C>A (n.359+17C>A)
c.22+17C>A (n.22+17C>A)
c.821+17C>A (n.821+17C>A)
 dbSNP gnomAD v4
17g.42538772C=CA2260528019NAGLUc.764+17C= (n.764+17C=)
c.366+17C=
c.359+17C= (n.359+17C=)
c.22+17C= (n.22+17C=)
c.821+17C= (n.821+17C=)
17g.42538772C>TCA8576854NAGLUc.764+17C>T (n.764+17C>T)
c.366+17C>T
c.359+17C>T (n.359+17C>T)
c.22+17C>T (n.22+17C>T)
c.821+17C>T (n.821+17C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42538773C>GCA2576295400NAGLUc.764+18C>G (n.764+18C>G)
c.366+18C>G
c.359+18C>G (n.359+18C>G)
c.22+18C>G (n.22+18C>G)
c.821+18C>G (n.821+18C>G)
17g.42538774C>ACA290773539NAGLUc.764+19C>A (n.764+19C>A)
c.366+19C>A
c.359+19C>A (n.359+19C>A)
c.22+19C>A (n.22+19C>A)
c.821+19C>A (n.821+19C>A)
 ClinVar dbSNP gnomAD v4
17g.42538774C=CA2260528020NAGLUc.764+19C= (n.764+19C=)
c.366+19C=
c.359+19C= (n.359+19C=)
c.22+19C= (n.22+19C=)
c.821+19C= (n.821+19C=)
17g.42538774C>GCA8576855NAGLUc.764+19C>G (n.764+19C>G)
c.366+19C>G
c.359+19C>G (n.359+19C>G)
c.22+19C>G (n.22+19C>G)
c.821+19C>G (n.821+19C>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42538774C>TCA2573153970NAGLUc.764+19C>T (n.764+19C>T)
c.366+19C>T
c.359+19C>T (n.359+19C>T)
c.22+19C>T (n.22+19C>T)
c.821+19C>T (n.821+19C>T)
 ClinVar dbSNP gnomAD v4
17g.42538775C>ACA2740095355NAGLUc.764+20C>A (n.764+20C>A)
c.366+20C>A
c.359+20C>A (n.359+20C>A)
c.22+20C>A (n.22+20C>A)
c.821+20C>A (n.821+20C>A)
 ClinVar
17g.42538775C>TCA2576295401NAGLUc.764+20C>T (n.764+20C>T)
c.366+20C>T
c.359+20C>T (n.359+20C>T)
c.22+20C>T (n.22+20C>T)
c.821+20C>T (n.821+20C>T)
 gnomAD v4
17g.42538777C=CA2260528021NAGLUc.764+22C= (n.764+22C=)
c.366+22C=
c.359+22C= (n.359+22C=)
c.22+22C= (n.22+22C=)
c.821+22C= (n.821+22C=)
17g.42538777C>TCA772111666NAGLUc.764+22C>T (n.764+22C>T)
c.366+22C>T
c.359+22C>T (n.359+22C>T)
c.22+22C>T (n.22+22C>T)
c.821+22C>T (n.821+22C>T)
 dbSNP gnomAD v4
17g.42538778delCA2576295402NAGLUc.764+23del (n.764+23del)
c.366+23del
c.359+23del (n.359+23del)
c.22+23del (n.22+23del)
c.821+23del (n.821+23del)
17g.42538778C=CA2260528022NAGLUc.764+23C= (n.764+23C=)
c.366+23C=
c.359+23C= (n.359+23C=)
c.22+23C= (n.22+23C=)
c.821+23C= (n.821+23C=)
17g.42538778C>GCA626218583NAGLUc.764+23C>G (n.764+23C>G)
c.366+23C>G
c.359+23C>G (n.359+23C>G)
c.22+23C>G (n.22+23C>G)
c.821+23C>G (n.821+23C>G)
 dbSNP gnomAD v2 gnomAD v4
17g.42538778C>TCA2637969905NAGLUc.764+23C>T (n.764+23C>T)
c.366+23C>T
c.359+23C>T (n.359+23C>T)
c.22+23C>T (n.22+23C>T)
c.821+23C>T (n.821+23C>T)
 gnomAD v4
17g.42538779A=CA2260528023NAGLUc.764+24A= (n.764+24A=)
c.366+24A=
c.359+24A= (n.359+24A=)
c.22+24A= (n.22+24A=)
c.821+24A= (n.821+24A=)
17g.42538779A>GCA8576856NAGLUc.764+24A>G (n.764+24A>G)
c.366+24A>G
c.359+24A>G (n.359+24A>G)
c.22+24A>G (n.22+24A>G)
c.821+24A>G (n.821+24A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42538780C>ACA2637969906NAGLUc.764+25C>A (n.764+25C>A)
c.366+25C>A
c.359+25C>A (n.359+25C>A)
c.22+25C>A (n.22+25C>A)
c.821+25C>A (n.821+25C>A)
 gnomAD v4
17g.42538780C>GCA2576295403NAGLUc.764+25C>G (n.764+25C>G)
c.366+25C>G
c.359+25C>G (n.359+25C>G)
c.22+25C>G (n.22+25C>G)
c.821+25C>G (n.821+25C>G)
 gnomAD v4
17g.42538781T>ACA2637969907NAGLUc.764+26T>A (n.764+26T>A)
c.366+26T>A
c.359+26T>A (n.359+26T>A)
c.22+26T>A (n.22+26T>A)
c.821+26T>A (n.821+26T>A)
 gnomAD v4
17g.42538784G>ACA626218584NAGLUc.764+29G>A (n.764+29G>A)
c.366+29G>A
c.359+29G>A (n.359+29G>A)
c.22+29G>A (n.22+29G>A)
c.821+29G>A (n.821+29G>A)
 dbSNP gnomAD v2 gnomAD v4
17g.42538784G=CA2260528024NAGLUc.764+29G= (n.764+29G=)
c.366+29G=
c.359+29G= (n.359+29G=)
c.22+29G= (n.22+29G=)
c.821+29G= (n.821+29G=)
17g.42538785C>TCA2637969908NAGLUc.764+30C>T (n.764+30C>T)
c.366+30C>T
c.359+30C>T (n.359+30C>T)
c.22+30C>T (n.22+30C>T)
c.821+30C>T (n.821+30C>T)
 gnomAD v4
17g.42538787C=CA2260528025NAGLUc.764+32C= (n.764+32C=)
c.366+32C=
c.359+32C= (n.359+32C=)
c.22+32C= (n.22+32C=)
c.821+32C= (n.821+32C=)
17g.42538787C>TCA626218585NAGLUc.764+32C>T (n.764+32C>T)
c.366+32C>T
c.359+32C>T (n.359+32C>T)
c.22+32C>T (n.22+32C>T)
c.821+32C>T (n.821+32C>T)
 dbSNP gnomAD v2 gnomAD v4
17g.42538788A=CA2260528026NAGLUc.764+33A= (n.764+33A=)
c.366+33A=
c.359+33A= (n.359+33A=)
c.22+33A= (n.22+33A=)
c.821+33A= (n.821+33A=)
17g.42538788A>CCA2576295404NAGLUc.764+33A>C (n.764+33A>C)
c.366+33A>C
c.359+33A>C (n.359+33A>C)
c.22+33A>C (n.22+33A>C)
c.821+33A>C (n.821+33A>C)
 gnomAD v4
17g.42538788A>GCA626218586NAGLUc.764+33A>G (n.764+33A>G)
c.366+33A>G
c.359+33A>G (n.359+33A>G)
c.22+33A>G (n.22+33A>G)
c.821+33A>G (n.821+33A>G)
 dbSNP gnomAD v2 gnomAD v4
17g.42538790A=CA2260528027NAGLUc.764+35A= (n.764+35A=)
c.366+35A=
c.359+35A= (n.359+35A=)
c.22+35A= (n.22+35A=)
c.821+35A= (n.821+35A=)
17g.42538790A>CCA8576857NAGLUc.764+35A>C (n.764+35A>C)
c.366+35A>C
c.359+35A>C (n.359+35A>C)
c.22+35A>C (n.22+35A>C)
c.821+35A>C (n.821+35A>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.42538791G>TCA2637969909NAGLUc.764+36G>T (n.764+36G>T)
c.366+36G>T
c.359+36G>T (n.359+36G>T)
c.22+36G>T (n.22+36G>T)
c.821+36G>T (n.821+36G>T)
 gnomAD v4
17g.42538792A>TCA2637969910NAGLUc.764+37A>T (n.764+37A>T)
c.366+37A>T
c.359+37A>T (n.359+37A>T)
c.22+37A>T (n.22+37A>T)
c.821+37A>T (n.821+37A>T)
 gnomAD v4
17g.42538793G>ACA8576858NAGLUc.764+38G>A (n.764+38G>A)
c.366+38G>A
c.359+38G>A (n.359+38G>A)
c.22+38G>A (n.22+38G>A)
c.821+38G>A (n.821+38G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.42538793G=CA2260528028NAGLUc.764+38G= (n.764+38G=)
c.366+38G=
c.359+38G= (n.359+38G=)
c.22+38G= (n.22+38G=)
c.821+38G= (n.821+38G=)
17g.42538794G>ACA2637969911NAGLUc.764+39G>A (n.764+39G>A)
c.366+39G>A
c.359+39G>A (n.359+39G>A)
c.22+39G>A (n.22+39G>A)
c.821+39G>A (n.821+39G>A)
 gnomAD v4
17g.42538795G>ACA2576295405NAGLUc.764+40G>A (n.764+40G>A)
c.366+40G>A
c.359+40G>A (n.359+40G>A)
c.22+40G>A (n.22+40G>A)
c.821+40G>A (n.821+40G>A)
 gnomAD v4
17g.42538797A=CA2260528029NAGLUc.764+42A= (n.764+42A=)
c.366+42A=
c.359+42A= (n.359+42A=)
c.22+42A= (n.22+42A=)
c.821+42A= (n.821+42A=)
17g.42538797A>GCA772111694NAGLUc.764+42A>G (n.764+42A>G)
c.366+42A>G
c.359+42A>G (n.359+42A>G)
c.22+42A>G (n.22+42A>G)
c.821+42A>G (n.821+42A>G)
 dbSNP
17g.42538801_42538802insTTTTTTTTTTTTTTTTCA983829235NAGLUc.764+46_764+47insTTTTTTTTTTTTTTTT (n.764+46_764+47insTTTTTTTTTTTTTTTT)
c.366+46_366+47insTTTTTTTTTTTTTTTT
c.359+46_359+47insTTTTTTTTTTTTTTTT (n.359+46_359+47insTTTTTTTTTTTTTTTT)
c.22+46_22+47insTTTTTTTTTTTTTTTT (n.22+46_22+47insTTTTTTTTTTTTTTTT)
c.821+46_821+47insTTTTTTTTTTTTTTTT (n.821+46_821+47insTTTTTTTTTTTTTTTT)
 gnomAD v3 gnomAD v4
17g.42538801_42538802insTTTTTTTTTTTTTTTTTTTTTCA983829228NAGLUc.764+46_764+47insTTTTTTTTTTTTTTTTTTTTT (n.764+46_764+47insTTTTTTTTTTTTTTTTTTTTT)
c.366+46_366+47insTTTTTTTTTTTTTTTTTTTTT
c.359+46_359+47insTTTTTTTTTTTTTTTTTTTTT (n.359+46_359+47insTTTTTTTTTTTTTTTTTTTTT)
c.22+46_22+47insTTTTTTTTTTTTTTTTTTTTT (n.22+46_22+47insTTTTTTTTTTTTTTTTTTTTT)
c.821+46_821+47insTTTTTTTTTTTTTTTTTTTTT (n.821+46_821+47insTTTTTTTTTTTTTTTTTTTTT)
 gnomAD v3 gnomAD v4
17g.42538801_42538802insTTTTTTTTTTTTTTTTTTTTTTTTCA2809524879NAGLUc.764+46_764+47insTTTTTTTTTTTTTTTTTTTTTTTT (n.764+46_764+47insTTTTTTTTTTTTTTTTTTTTTTTT)
c.366+46_366+47insTTTTTTTTTTTTTTTTTTTTTTTT
c.359+46_359+47insTTTTTTTTTTTTTTTTTTTTTTTT (n.359+46_359+47insTTTTTTTTTTTTTTTTTTTTTTTT)
c.22+46_22+47insTTTTTTTTTTTTTTTTTTTTTTTT (n.22+46_22+47insTTTTTTTTTTTTTTTTTTTTTTTT)
c.821+46_821+47insTTTTTTTTTTTTTTTTTTTTTTTT (n.821+46_821+47insTTTTTTTTTTTTTTTTTTTTTTTT)
17g.42538801_42538802insTTTTTTTTTTTTTTTTTTTTTTTTTCA2637969913NAGLUc.764+46_764+47insTTTTTTTTTTTTTTTTTTTTTTTTT (n.764+46_764+47insTTTTTTTTTTTTTTTTTTTTTTTTT)
c.366+46_366+47insTTTTTTTTTTTTTTTTTTTTTTTTT
c.359+46_359+47insTTTTTTTTTTTTTTTTTTTTTTTTT (n.359+46_359+47insTTTTTTTTTTTTTTTTTTTTTTTTT)
c.22+46_22+47insTTTTTTTTTTTTTTTTTTTTTTTTT (n.22+46_22+47insTTTTTTTTTTTTTTTTTTTTTTTTT)
c.821+46_821+47insTTTTTTTTTTTTTTTTTTTTTTTTT (n.821+46_821+47insTTTTTTTTTTTTTTTTTTTTTTTTT)
 gnomAD v4
17g.42538801_42538802insTTTTTTTTTTTTTTTTTTTTTTTTTTCA2637969912NAGLUc.764+46_764+47insTTTTTTTTTTTTTTTTTTTTTTTTTT (n.764+46_764+47insTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.366+46_366+47insTTTTTTTTTTTTTTTTTTTTTTTTTT
c.359+46_359+47insTTTTTTTTTTTTTTTTTTTTTTTTTT (n.359+46_359+47insTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.22+46_22+47insTTTTTTTTTTTTTTTTTTTTTTTTTT (n.22+46_22+47insTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.821+46_821+47insTTTTTTTTTTTTTTTTTTTTTTTTTT (n.821+46_821+47insTTTTTTTTTTTTTTTTTTTTTTTTTT)
 gnomAD v4
17g.42538801_42538802insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCA983829234NAGLUc.764+46_764+47insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.764+46_764+47insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.366+46_366+47insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
c.359+46_359+47insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.359+46_359+47insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.22+46_22+47insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.22+46_22+47insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.821+46_821+47insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.821+46_821+47insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
 gnomAD v3 gnomAD v4
17g.42538801_42538802insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCA983829233NAGLUc.764+46_764+47insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.764+46_764+47insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.366+46_366+47insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
c.359+46_359+47insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.359+46_359+47insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.22+46_22+47insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.22+46_22+47insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.821+46_821+47insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.821+46_821+47insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
 gnomAD v3 gnomAD v4
17g.42538799T>ACA2637969914NAGLUc.764+44T>A (n.764+44T>A)
c.366+44T>A
c.359+44T>A (n.359+44T>A)
c.22+44T>A (n.22+44T>A)
c.821+44T>A (n.821+44T>A)
 gnomAD v4
17g.42538800T>ACA2637969915NAGLUc.764+45T>A (n.764+45T>A)
c.366+45T>A
c.359+45T>A (n.359+45T>A)
c.22+45T>A (n.22+45T>A)
c.821+45T>A (n.821+45T>A)
 gnomAD v4
17g.42538801T>ACA2637969916NAGLUc.764+46T>A (n.764+46T>A)
c.366+46T>A
c.359+46T>A (n.359+46T>A)
c.22+46T>A (n.22+46T>A)
c.821+46T>A (n.821+46T>A)
 gnomAD v4
17g.42538802A>TCA983829240NAGLUc.764+47A>T (n.764+47A>T)
c.366+47A>T
c.359+47A>T (n.359+47A>T)
c.22+47A>T (n.22+47A>T)
c.821+47A>T (n.821+47A>T)
 gnomAD v3 gnomAD v4
17g.42538805C>ACA2637969917NAGLUc.764+50C>A (n.764+50C>A)
c.366+50C>A
c.359+50C>A (n.359+50C>A)
c.22+50C>A (n.22+50C>A)
c.821+50C>A (n.821+50C>A)
 gnomAD v4
17g.42538806C=CA2260528030NAGLUc.764+51C= (n.764+51C=)
c.366+51C=
c.359+51C= (n.359+51C=)
c.22+51C= (n.22+51C=)
c.821+51C= (n.821+51C=)
17g.42538806C>TCA8576859NAGLUc.764+51C>T (n.764+51C>T)
c.366+51C>T
c.359+51C>T (n.359+51C>T)
c.22+51C>T (n.22+51C>T)
c.821+51C>T (n.821+51C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.42538807C>ACA2576295406NAGLUc.764+52C>A (n.764+52C>A)
c.366+52C>A
c.359+52C>A (n.359+52C>A)
c.22+52C>A (n.22+52C>A)
c.821+52C>A (n.821+52C>A)
 gnomAD v4
17g.42538807C=CA2260528031NAGLUc.764+52C= (n.764+52C=)
c.366+52C=
c.359+52C= (n.359+52C=)
c.22+52C= (n.22+52C=)
c.821+52C= (n.821+52C=)
17g.42538807C>TCA2260528032NAGLUc.764+52C>T (n.764+52C>T)
c.366+52C>T
c.359+52C>T (n.359+52C>T)
c.22+52C>T (n.22+52C>T)
c.821+52C>T (n.821+52C>T)
 dbSNP gnomAD v4
17g.42538809delCA2637969918NAGLUc.764+54del (n.764+54del)
c.366+54del
c.359+54del (n.359+54del)
c.22+54del (n.22+54del)
c.821+54del (n.821+54del)
 gnomAD v4
17g.42538808_42538809insCCA2637969919NAGLUc.764+53_764+54insC (n.764+53_764+54insC)
c.366+53_366+54insC
c.359+53_359+54insC (n.359+53_359+54insC)
c.22+53_22+54insC (n.22+53_22+54insC)
c.821+53_821+54insC (n.821+53_821+54insC)
 gnomAD v4
17g.42538809T>ACA2637969920NAGLUc.764+54T>A (n.764+54T>A)
c.366+54T>A
c.359+54T>A (n.359+54T>A)
c.22+54T>A (n.22+54T>A)
c.821+54T>A (n.821+54T>A)
 gnomAD v4
17g.42538809T>CCA2637969921NAGLUc.764+54T>C (n.764+54T>C)
c.366+54T>C
c.359+54T>C (n.359+54T>C)
c.22+54T>C (n.22+54T>C)
c.821+54T>C (n.821+54T>C)
 gnomAD v4
17g.42538810C>ACA2637969922NAGLUc.764+55C>A (n.764+55C>A)
c.366+55C>A
c.359+55C>A (n.359+55C>A)
c.22+55C>A (n.22+55C>A)
c.821+55C>A (n.821+55C>A)
 gnomAD v4

Number of alleles fetched