Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.42543660A=CA2260530391NAGLUc.1654A= (p.Thr552=)
c.992A= (n.992A=)
c.823A= (p.Thr275=)
c.655A= (p.Thr219=)
c.1711A= (p.Thr571=)
17g.42543660A>CCA399604365NAGLUc.1654A>C (p.Thr552Pro)
c.992A>C (n.992A>C)
c.823A>C (p.Thr275Pro)
c.655A>C (p.Thr219Pro)
c.1711A>C (p.Thr571Pro)
 dbSNP gnomAD v4
17g.42543660A>GCA399604366NAGLUc.1654A>G (p.Thr552Ala)
c.992A>G (n.992A>G)
c.823A>G (p.Thr275Ala)
c.655A>G (p.Thr219Ala)
c.1711A>G (p.Thr571Ala)
17g.42543660A>TCA399604367NAGLUc.1654A>T (p.Thr552Ser)
c.992A>T (n.992A>T)
c.823A>T (p.Thr275Ser)
c.655A>T (p.Thr219Ser)
c.1711A>T (p.Thr571Ser)
17g.42543661C>ACA399604368NAGLUc.1655C>A (p.Thr552Asn)
c.993C>A (n.993C>A)
c.824C>A (p.Thr275Asn)
c.656C>A (p.Thr219Asn)
c.1712C>A (p.Thr571Asn)
 gnomAD v4
17g.42543661C=CA2260530392NAGLUc.1655C= (p.Thr552=)
c.993C= (n.993C=)
c.824C= (p.Thr275=)
c.656C= (p.Thr219=)
c.1712C= (p.Thr571=)
17g.42543661C>GCA399604369NAGLUc.1655C>G (p.Thr552Ser)
c.993C>G (n.993C>G)
c.824C>G (p.Thr275Ser)
c.656C>G (p.Thr219Ser)
c.1712C>G (p.Thr571Ser)
17g.42543661C>TCA290780897NAGLUc.1655C>T (p.Thr552Ile)
c.993C>T (n.993C>T)
c.824C>T (p.Thr275Ile)
c.656C>T (p.Thr219Ile)
c.1712C>T (p.Thr571Ile)
 ClinVar dbSNP
17g.42543662C>ACA500217156NAGLUc.1656C>A (p.Thr552=)
c.994C>A (n.994C>A)
c.825C>A (p.Thr275=)
c.657C>A (p.Thr219=)
c.1713C>A (p.Thr571=)
17g.42543662C>GCA500217158NAGLUc.1656C>G (p.Thr552=)
c.994C>G (n.994C>G)
c.825C>G (p.Thr275=)
c.657C>G (p.Thr219=)
c.1713C>G (p.Thr571=)
 gnomAD v4
17g.42543662C>TCA500217155NAGLUc.1656C>T (p.Thr552=)
c.994C>T (n.994C>T)
c.825C>T (p.Thr275=)
c.657C>T (p.Thr219=)
c.1713C>T (p.Thr571=)
 ClinVar dbSNP
17g.42543663A>CCA399604370NAGLUc.1657A>C (p.Ser553Arg)
c.995A>C (n.995A>C)
c.826A>C (p.Ser276Arg)
c.658A>C (p.Ser220Arg)
c.1714A>C (p.Ser572Arg)
17g.42543663A>GCA399604371NAGLUc.1657A>G (p.Ser553Gly)
c.995A>G (n.995A>G)
c.826A>G (p.Ser276Gly)
c.658A>G (p.Ser220Gly)
c.1714A>G (p.Ser572Gly)
17g.42543663A>TCA399604372NAGLUc.1657A>T (p.Ser553Cys)
c.995A>T (n.995A>T)
c.826A>T (p.Ser276Cys)
c.658A>T (p.Ser220Cys)
c.1714A>T (p.Ser572Cys)
17g.42543664G>ACA399604375NAGLUc.1658G>A (p.Ser553Asn)
c.996G>A (n.996G>A)
c.827G>A (p.Ser276Asn)
c.659G>A (p.Ser220Asn)
c.1715G>A (p.Ser572Asn)
 dbSNP gnomAD v2
17g.42543664G>CCA399604373NAGLUc.1658G>C (p.Ser553Thr)
c.996G>C (n.996G>C)
c.827G>C (p.Ser276Thr)
c.659G>C (p.Ser220Thr)
c.1715G>C (p.Ser572Thr)
17g.42543664G=CA2260530393NAGLUc.1658G= (p.Ser553=)
c.996G= (n.996G=)
c.827G= (p.Ser276=)
c.659G= (p.Ser220=)
c.1715G= (p.Ser572=)
17g.42543664G>TCA399604374NAGLUc.1658G>T (p.Ser553Ile)
c.996G>T (n.996G>T)
c.827G>T (p.Ser276Ile)
c.659G>T (p.Ser220Ile)
c.1715G>T (p.Ser572Ile)
17g.42543665C>ACA399604376NAGLUc.1659C>A (p.Ser553Arg)
c.997C>A (n.997C>A)
c.828C>A (p.Ser276Arg)
c.660C>A (p.Ser220Arg)
c.1716C>A (p.Ser572Arg)
 dbSNP
17g.42543665C=CA2260530394NAGLUc.1659C= (p.Ser553=)
c.997C= (n.997C=)
c.828C= (p.Ser276=)
c.660C= (p.Ser220=)
c.1716C= (p.Ser572=)
17g.42543665C>GCA399604377NAGLUc.1659C>G (p.Ser553Arg)
c.997C>G (n.997C>G)
c.828C>G (p.Ser276Arg)
c.660C>G (p.Ser220Arg)
c.1716C>G (p.Ser572Arg)
17g.42543665C>TCA500217159NAGLUc.1659C>T (p.Ser553=)
c.997C>T (n.997C>T)
c.828C>T (p.Ser276=)
c.660C>T (p.Ser220=)
c.1716C>T (p.Ser572=)
17g.42543668dupCA2843206024NAGLUc.1662dup (p.Ala555ArgfsTer23)
c.1000dup (n.1000dup)
c.831dup (p.Ala278ArgfsTer23)
c.663dup (p.Ala222ArgfsTer23)
c.1719dup (p.Ala574ArgfsTer23)
17g.42543667_42543668delCA2838326198NAGLUc.1661_1662del (p.Pro554ArgfsTer23)
c.999_1000del (n.999_1000del)
c.830_831del (p.Pro277ArgfsTer23)
c.662_663del (p.Pro221ArgfsTer23)
c.1718_1719del (p.Pro573ArgfsTer23)
17g.42543666C>ACA399604378NAGLUc.1660C>A (p.Pro554Thr)
c.998C>A (n.998C>A)
c.829C>A (p.Pro277Thr)
c.661C>A (p.Pro221Thr)
c.1717C>A (p.Pro573Thr)
17g.42543666C=CA2260530395NAGLUc.1660C= (p.Pro554=)
c.998C= (n.998C=)
c.829C= (p.Pro277=)
c.661C= (p.Pro221=)
c.1717C= (p.Pro573=)
17g.42543666C>GCA399604379NAGLUc.1660C>G (p.Pro554Ala)
c.998C>G (n.998C>G)
c.829C>G (p.Pro277Ala)
c.661C>G (p.Pro221Ala)
c.1717C>G (p.Pro573Ala)
 gnomAD v4
17g.42543666C>TCA290780903NAGLUc.1660C>T (p.Pro554Ser)
c.998C>T (n.998C>T)
c.829C>T (p.Pro277Ser)
c.661C>T (p.Pro221Ser)
c.1717C>T (p.Pro573Ser)
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.42543667C>ACA399604380NAGLUc.1661C>A (p.Pro554His)
c.999C>A (n.999C>A)
c.830C>A (p.Pro277His)
c.662C>A (p.Pro221His)
c.1718C>A (p.Pro573His)
17g.42543667C=CA2260530396NAGLUc.1661C= (p.Pro554=)
c.999C= (n.999C=)
c.830C= (p.Pro277=)
c.662C= (p.Pro221=)
c.1718C= (p.Pro573=)
17g.42543667C>GCA399604381NAGLUc.1661C>G (p.Pro554Arg)
c.999C>G (n.999C>G)
c.830C>G (p.Pro277Arg)
c.662C>G (p.Pro221Arg)
c.1718C>G (p.Pro573Arg)
17g.42543667C>TCA399604382NAGLUc.1661C>T (p.Pro554Leu)
c.999C>T (n.999C>T)
c.830C>T (p.Pro277Leu)
c.662C>T (p.Pro221Leu)
c.1718C>T (p.Pro573Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.42543668C>ACA500217163NAGLUc.1662C>A (p.Pro554=)
c.1000C>A (n.1000C>A)
c.831C>A (p.Pro277=)
c.663C>A (p.Pro221=)
c.1719C>A (p.Pro573=)
17g.42543668C=CA2260530397NAGLUc.1662C= (p.Pro554=)
c.1000C= (n.1000C=)
c.831C= (p.Pro277=)
c.663C= (p.Pro221=)
c.1719C= (p.Pro573=)
17g.42543668C>GCA500217164NAGLUc.1662C>G (p.Pro554=)
c.1000C>G (n.1000C>G)
c.831C>G (p.Pro277=)
c.663C>G (p.Pro221=)
c.1719C>G (p.Pro573=)
17g.42543668C>TCA8577069NAGLUc.1662C>T (p.Pro554=)
c.1000C>T (n.1000C>T)
c.831C>T (p.Pro277=)
c.663C>T (p.Pro221=)
c.1719C>T (p.Pro573=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42543669G>ACA8577070NAGLUc.1663G>A (p.Ala555Thr)
c.1001G>A (n.1001G>A)
c.832G>A (p.Ala278Thr)
c.664G>A (p.Ala222Thr)
c.1720G>A (p.Ala574Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42543669G>CCA399604383NAGLUc.1663G>C (p.Ala555Pro)
c.1001G>C (n.1001G>C)
c.832G>C (p.Ala278Pro)
c.664G>C (p.Ala222Pro)
c.1720G>C (p.Ala574Pro)
 gnomAD v4
17g.42543669G=CA2260530398NAGLUc.1663G= (p.Ala555=)
c.1001G= (n.1001G=)
c.832G= (p.Ala278=)
c.664G= (p.Ala222=)
c.1720G= (p.Ala574=)
17g.42543669G>TCA399604384NAGLUc.1663G>T (p.Ala555Ser)
c.1001G>T (n.1001G>T)
c.832G>T (p.Ala278Ser)
c.664G>T (p.Ala222Ser)
c.1720G>T (p.Ala574Ser)
 gnomAD v4
17g.42543670C>ACA399604388NAGLUc.1664C>A (p.Ala555Asp)
c.1002C>A (n.1002C>A)
c.833C>A (p.Ala278Asp)
c.665C>A (p.Ala222Asp)
c.1721C>A (p.Ala574Asp)
17g.42543670C>GCA399604390NAGLUc.1664C>G (p.Ala555Gly)
c.1002C>G (n.1002C>G)
c.833C>G (p.Ala278Gly)
c.665C>G (p.Ala222Gly)
c.1721C>G (p.Ala574Gly)
17g.42543670C>TCA399604386NAGLUc.1664C>T (p.Ala555Val)
c.1002C>T (n.1002C>T)
c.833C>T (p.Ala278Val)
c.665C>T (p.Ala222Val)
c.1721C>T (p.Ala574Val)
 ClinVar gnomAD v4
17g.42543671dupCA2838857981NAGLUc.1665dup (p.Phe556LeufsTer22)
c.1003dup (n.1003dup)
c.834dup (p.Phe279LeufsTer22)
c.666dup (p.Phe223LeufsTer22)
c.1722dup (p.Phe575LeufsTer22)
17g.42543671C>ACA500217170NAGLUc.1665C>A (p.Ala555=)
c.1003C>A (n.1003C>A)
c.834C>A (p.Ala278=)
c.666C>A (p.Ala222=)
c.1722C>A (p.Ala574=)
 ClinVar
17g.42543671C=CA2260530399NAGLUc.1665C= (p.Ala555=)
c.1003C= (n.1003C=)
c.834C= (p.Ala278=)
c.666C= (p.Ala222=)
c.1722C= (p.Ala574=)
17g.42543671C>GCA500217168NAGLUc.1665C>G (p.Ala555=)
c.1003C>G (n.1003C>G)
c.834C>G (p.Ala278=)
c.666C>G (p.Ala222=)
c.1722C>G (p.Ala574=)
 dbSNP gnomAD v3 gnomAD v4
17g.42543671C>TCA500217169NAGLUc.1665C>T (p.Ala555=)
c.1003C>T (n.1003C>T)
c.834C>T (p.Ala278=)
c.666C>T (p.Ala222=)
c.1722C>T (p.Ala574=)
 ClinVar
17g.42543672T>ACA399604392NAGLUc.1666T>A (p.Phe556Ile)
c.1004T>A (n.1004T>A)
c.835T>A (p.Phe279Ile)
c.667T>A (p.Phe223Ile)
c.1723T>A (p.Phe575Ile)
17g.42543672T>CCA399604394NAGLUc.1666T>C (p.Phe556Leu)
c.1004T>C (n.1004T>C)
c.835T>C (p.Phe279Leu)
c.667T>C (p.Phe223Leu)
c.1723T>C (p.Phe575Leu)
17g.42543672T>GCA399604396NAGLUc.1666T>G (p.Phe556Val)
c.1004T>G (n.1004T>G)
c.835T>G (p.Phe279Val)
c.667T>G (p.Phe223Val)
c.1723T>G (p.Phe575Val)
17g.42543673T>ACA399604398NAGLUc.1667T>A (p.Phe556Tyr)
c.1005T>A (n.1005T>A)
c.836T>A (p.Phe279Tyr)
c.668T>A (p.Phe223Tyr)
c.1724T>A (p.Phe575Tyr)
17g.42543673T>CCA399604399NAGLUc.1667T>C (p.Phe556Ser)
c.1005T>C (n.1005T>C)
c.836T>C (p.Phe279Ser)
c.668T>C (p.Phe223Ser)
c.1724T>C (p.Phe575Ser)
17g.42543673T>GCA399604401NAGLUc.1667T>G (p.Phe556Cys)
c.1005T>G (n.1005T>G)
c.836T>G (p.Phe279Cys)
c.668T>G (p.Phe223Cys)
c.1724T>G (p.Phe575Cys)
17g.42543674C>ACA399604405NAGLUc.1668C>A (p.Phe556Leu)
c.1006C>A (n.1006C>A)
c.837C>A (p.Phe279Leu)
c.669C>A (p.Phe223Leu)
c.1725C>A (p.Phe575Leu)
17g.42543674C>GCA399604403NAGLUc.1668C>G (p.Phe556Leu)
c.1006C>G (n.1006C>G)
c.837C>G (p.Phe279Leu)
c.669C>G (p.Phe223Leu)
c.1725C>G (p.Phe575Leu)
17g.42543674C>TCA500217171NAGLUc.1668C>T (p.Phe556=)
c.1006C>T (n.1006C>T)
c.837C>T (p.Phe279=)
c.669C>T (p.Phe223=)
c.1725C>T (p.Phe575=)
17g.42543676_42543684delCA2637971441NAGLUc.1670_1678del (p.Arg557_Asp559del)
c.1008_1016del (n.1008_1016del)
c.839_847del (p.Arg280_Asp282del)
c.671_679del (p.Arg224_Asp226del)
c.1727_1735del (p.Arg576_Asp578del)
 gnomAD v4
17g.42543675C>ACA399604407NAGLUc.1669C>A (p.Arg557Ser)
c.1007C>A (n.1007C>A)
c.838C>A (p.Arg280Ser)
c.670C>A (p.Arg224Ser)
c.1726C>A (p.Arg576Ser)
17g.42543675C=CA2260530400NAGLUc.1669C= (p.Arg557=)
c.1007C= (n.1007C=)
c.838C= (p.Arg280=)
c.670C= (p.Arg224=)
c.1726C= (p.Arg576=)
17g.42543675C>GCA399604408NAGLUc.1669C>G (p.Arg557Gly)
c.1007C>G (n.1007C>G)
c.838C>G (p.Arg280Gly)
c.670C>G (p.Arg224Gly)
c.1726C>G (p.Arg576Gly)
17g.42543675C>TCA8577071NAGLUc.1669C>T (p.Arg557Cys)
c.1007C>T (n.1007C>T)
c.838C>T (p.Arg280Cys)
c.670C>T (p.Arg224Cys)
c.1726C>T (p.Arg576Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42543676G>ACA290780929NAGLUc.1670G>A (p.Arg557His)
c.1008G>A (n.1008G>A)
c.839G>A (p.Arg280His)
c.671G>A (p.Arg224His)
c.1727G>A (p.Arg576His)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.42543676G>CCA399604410NAGLUc.1670G>C (p.Arg557Pro)
c.1008G>C (n.1008G>C)
c.839G>C (p.Arg280Pro)
c.671G>C (p.Arg224Pro)
c.1727G>C (p.Arg576Pro)
17g.42543676G=CA2260530401NAGLUc.1670G= (p.Arg557=)
c.1008G= (n.1008G=)
c.839G= (p.Arg280=)
c.671G= (p.Arg224=)
c.1727G= (p.Arg576=)
17g.42543676G>TCA8577072NAGLUc.1670G>T (p.Arg557Leu)
c.1008G>T (n.1008G>T)
c.839G>T (p.Arg280Leu)
c.671G>T (p.Arg224Leu)
c.1727G>T (p.Arg576Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.42543677C>ACA500217175NAGLUc.1671C>A (p.Arg557=)
c.1009C>A (n.1009C>A)
c.840C>A (p.Arg280=)
c.672C>A (p.Arg224=)
c.1728C>A (p.Arg576=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.42543677C=CA2260530402NAGLUc.1671C= (p.Arg557=)
c.1009C= (n.1009C=)
c.840C= (p.Arg280=)
c.672C= (p.Arg224=)
c.1728C= (p.Arg576=)
17g.42543677C>GCA500217173NAGLUc.1671C>G (p.Arg557=)
c.1009C>G (n.1009C>G)
c.840C>G (p.Arg280=)
c.672C>G (p.Arg224=)
c.1728C>G (p.Arg576=)
17g.42543677C>TCA500217176NAGLUc.1671C>T (p.Arg557=)
c.1009C>T (n.1009C>T)
c.840C>T (p.Arg280=)
c.672C>T (p.Arg224=)
c.1728C>T (p.Arg576=)
 gnomAD v4
17g.42543678T>ACA399604413NAGLUc.1672T>A (p.Tyr558Asn)
c.1010T>A (n.1010T>A)
c.841T>A (p.Tyr281Asn)
c.673T>A (p.Tyr225Asn)
c.1729T>A (p.Tyr577Asn)
 dbSNP gnomAD v2 gnomAD v4
17g.42543678T>CCA399604417NAGLUc.1672T>C (p.Tyr558His)
c.1010T>C (n.1010T>C)
c.841T>C (p.Tyr281His)
c.673T>C (p.Tyr225His)
c.1729T>C (p.Tyr577His)
 gnomAD v4
17g.42543678T>GCA399604415NAGLUc.1672T>G (p.Tyr558Asp)
c.1010T>G (n.1010T>G)
c.841T>G (p.Tyr281Asp)
c.673T>G (p.Tyr225Asp)
c.1729T>G (p.Tyr577Asp)
17g.42543678T=CA2260530403NAGLUc.1672T= (p.Tyr558=)
c.1010T= (n.1010T=)
c.841T= (p.Tyr281=)
c.673T= (p.Tyr225=)
c.1729T= (p.Tyr577=)
17g.42543679A>CCA399604419NAGLUc.1673A>C (p.Tyr558Ser)
c.1011A>C (n.1011A>C)
c.842A>C (p.Tyr281Ser)
c.674A>C (p.Tyr225Ser)
c.1730A>C (p.Tyr577Ser)
17g.42543679A>GCA399604421NAGLUc.1673A>G (p.Tyr558Cys)
c.1011A>G (n.1011A>G)
c.842A>G (p.Tyr281Cys)
c.674A>G (p.Tyr225Cys)
c.1730A>G (p.Tyr577Cys)
17g.42543679A>TCA399604423NAGLUc.1673A>T (p.Tyr558Phe)
c.1011A>T (n.1011A>T)
c.842A>T (p.Tyr281Phe)
c.674A>T (p.Tyr225Phe)
c.1730A>T (p.Tyr577Phe)
17g.42543680C>ACA399604425NAGLUc.1674C>A (p.Tyr558Ter)
c.1012C>A (n.1012C>A)
c.843C>A (p.Tyr281Ter)
c.675C>A (p.Tyr225Ter)
c.1731C>A (p.Tyr577Ter)
17g.42543680C=CA2260530404NAGLUc.1674C= (p.Tyr558=)
c.1012C= (n.1012C=)
c.843C= (p.Tyr281=)
c.675C= (p.Tyr225=)
c.1731C= (p.Tyr577=)
17g.42543680C>GCA399604427NAGLUc.1674C>G (p.Tyr558Ter)
c.1012C>G (n.1012C>G)
c.843C>G (p.Tyr281Ter)
c.675C>G (p.Tyr225Ter)
c.1731C>G (p.Tyr577Ter)
 ClinVar dbSNP
17g.42543680C>TCA8577073NAGLUc.1674C>T (p.Tyr558=)
c.1012C>T (n.1012C>T)
c.843C>T (p.Tyr281=)
c.675C>T (p.Tyr225=)
c.1731C>T (p.Tyr577=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42543681G>ACA8577075NAGLUc.1675G>A (p.Asp559Asn)
c.1013G>A (n.1013G>A)
c.844G>A (p.Asp282Asn)
c.676G>A (p.Asp226Asn)
c.1732G>A (p.Asp578Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42543681G>CCA8577074NAGLUc.1675G>C (p.Asp559His)
c.1013G>C (n.1013G>C)
c.844G>C (p.Asp282His)
c.676G>C (p.Asp226His)
c.1732G>C (p.Asp578His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42543681G=CA2260530405NAGLUc.1675G= (p.Asp559=)
c.1013G= (n.1013G=)
c.844G= (p.Asp282=)
c.676G= (p.Asp226=)
c.1732G= (p.Asp578=)
17g.42543681G>TCA399604432NAGLUc.1675G>T (p.Asp559Tyr)
c.1013G>T (n.1013G>T)
c.844G>T (p.Asp282Tyr)
c.676G>T (p.Asp226Tyr)
c.1732G>T (p.Asp578Tyr)
 ClinVar gnomAD v4
17g.42543682A>CCA399604435NAGLUc.1676A>C (p.Asp559Ala)
c.1014A>C (n.1014A>C)
c.845A>C (p.Asp282Ala)
c.677A>C (p.Asp226Ala)
c.1733A>C (p.Asp578Ala)
17g.42543682A>GCA399604436NAGLUc.1676A>G (p.Asp559Gly)
c.1014A>G (n.1014A>G)
c.845A>G (p.Asp282Gly)
c.677A>G (p.Asp226Gly)
c.1733A>G (p.Asp578Gly)
 COSMIC
17g.42543682A>TCA399604437NAGLUc.1676A>T (p.Asp559Val)
c.1014A>T (n.1014A>T)
c.845A>T (p.Asp282Val)
c.677A>T (p.Asp226Val)
c.1733A>T (p.Asp578Val)
17g.42543683C>ACA399604440NAGLUc.1677C>A (p.Asp559Glu)
c.1015C>A (n.1015C>A)
c.846C>A (p.Asp282Glu)
c.678C>A (p.Asp226Glu)
c.1734C>A (p.Asp578Glu)
17g.42543683C=CA2260530406NAGLUc.1677C= (p.Asp559=)
c.1015C= (n.1015C=)
c.846C= (p.Asp282=)
c.678C= (p.Asp226=)
c.1734C= (p.Asp578=)
17g.42543683C>GCA399604442NAGLUc.1677C>G (p.Asp559Glu)
c.1015C>G (n.1015C>G)
c.846C>G (p.Asp282Glu)
c.678C>G (p.Asp226Glu)
c.1734C>G (p.Asp578Glu)
17g.42543683C>TCA8577076NAGLUc.1677C>T (p.Asp559=)
c.1015C>T (n.1015C>T)
c.846C>T (p.Asp282=)
c.678C>T (p.Asp226=)
c.1734C>T (p.Asp578=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.42543684C>ACA399604443NAGLUc.1678C>A (p.Leu560Met)
c.1016C>A (n.1016C>A)
c.847C>A (p.Leu283Met)
c.679C>A (p.Leu227Met)
c.1735C>A (p.Leu579Met)
17g.42543684C=CA2260530407NAGLUc.1678C= (p.Leu560=)
c.1016C= (n.1016C=)
c.847C= (p.Leu283=)
c.679C= (p.Leu227=)
c.1735C= (p.Leu579=)
17g.42543684C>GCA399604444NAGLUc.1678C>G (p.Leu560Val)
c.1016C>G (n.1016C>G)
c.847C>G (p.Leu283Val)
c.679C>G (p.Leu227Val)
c.1735C>G (p.Leu579Val)
 dbSNP
17g.42543684C>TCA500217183NAGLUc.1678C>T (p.Leu560=)
c.1016C>T (n.1016C>T)
c.847C>T (p.Leu283=)
c.679C>T (p.Leu227=)
c.1735C>T (p.Leu579=)
17g.42543685T>ACA399604447NAGLUc.1679T>A (p.Leu560Gln)
c.1017T>A (n.1017T>A)
c.848T>A (p.Leu283Gln)
c.680T>A (p.Leu227Gln)
c.1736T>A (p.Leu579Gln)
17g.42543685T>CCA399604448NAGLUc.1679T>C (p.Leu560Pro)
c.1017T>C (n.1017T>C)
c.848T>C (p.Leu283Pro)
c.680T>C (p.Leu227Pro)
c.1736T>C (p.Leu579Pro)
 gnomAD v4
17g.42543685T>GCA399604450NAGLUc.1679T>G (p.Leu560Arg)
c.1017T>G (n.1017T>G)
c.848T>G (p.Leu283Arg)
c.680T>G (p.Leu227Arg)
c.1736T>G (p.Leu579Arg)
17g.42543686G>ACA8577077NAGLUc.1680G>A (p.Leu560=)
c.1018G>A (n.1018G>A)
c.849G>A (p.Leu283=)
c.681G>A (p.Leu227=)
c.1737G>A (p.Leu579=)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.42543686G>CCA500217188NAGLUc.1680G>C (p.Leu560=)
c.1018G>C (n.1018G>C)
c.849G>C (p.Leu283=)
c.681G>C (p.Leu227=)
c.1737G>C (p.Leu579=)
 ClinVar dbSNP COSMIC
17g.42543686G=CA2260530408NAGLUc.1680G= (p.Leu560=)
c.1018G= (n.1018G=)
c.849G= (p.Leu283=)
c.681G= (p.Leu227=)
c.1737G= (p.Leu579=)
17g.42543686G>TCA500217186NAGLUc.1680G>T (p.Leu560=)
c.1018G>T (n.1018G>T)
c.849G>T (p.Leu283=)
c.681G>T (p.Leu227=)
c.1737G>T (p.Leu579=)
17g.42543687C>ACA399604455NAGLUc.1681C>A (p.Leu561Met)
c.1019C>A (n.1019C>A)
c.850C>A (p.Leu284Met)
c.682C>A (p.Leu228Met)
c.1738C>A (p.Leu580Met)
 gnomAD v4
17g.42543687C=CA2260530409NAGLUc.1681C= (p.Leu561=)
c.1019C= (n.1019C=)
c.850C= (p.Leu284=)
c.682C= (p.Leu228=)
c.1738C= (p.Leu580=)
17g.42543687C>GCA399604453NAGLUc.1681C>G (p.Leu561Val)
c.1019C>G (n.1019C>G)
c.850C>G (p.Leu284Val)
c.682C>G (p.Leu228Val)
c.1738C>G (p.Leu580Val)
 ClinVar
17g.42543687C>TCA500217189NAGLUc.1681C>T (p.Leu561=)
c.1019C>T (n.1019C>T)
c.850C>T (p.Leu284=)
c.682C>T (p.Leu228=)
c.1738C>T (p.Leu580=)
 dbSNP gnomAD v2
17g.42543688T>ACA399604458NAGLUc.1682T>A (p.Leu561Gln)
c.1020T>A (n.1020T>A)
c.851T>A (p.Leu284Gln)
c.683T>A (p.Leu228Gln)
c.1739T>A (p.Leu580Gln)
17g.42543688T>CCA399604459NAGLUc.1682T>C (p.Leu561Pro)
c.1020T>C (n.1020T>C)
c.851T>C (p.Leu284Pro)
c.683T>C (p.Leu228Pro)
c.1739T>C (p.Leu580Pro)
 ClinVar dbSNP
17g.42543688T>GCA399604461NAGLUc.1682T>G (p.Leu561Arg)
c.1020T>G (n.1020T>G)
c.851T>G (p.Leu284Arg)
c.683T>G (p.Leu228Arg)
c.1739T>G (p.Leu580Arg)
 ClinVar dbSNP gnomAD v4
17g.42543688T=CA2260530410NAGLUc.1682T= (p.Leu561=)
c.1020T= (n.1020T=)
c.851T= (p.Leu284=)
c.683T= (p.Leu228=)
c.1739T= (p.Leu580=)
17g.42543689G>ACA500217193NAGLUc.1683G>A (p.Leu561=)
c.1021G>A (n.1021G>A)
c.852G>A (p.Leu284=)
c.684G>A (p.Leu228=)
c.1740G>A (p.Leu580=)
 ClinVar
17g.42543689G>CCA500217192NAGLUc.1683G>C (p.Leu561=)
c.1021G>C (n.1021G>C)
c.852G>C (p.Leu284=)
c.684G>C (p.Leu228=)
c.1740G>C (p.Leu580=)
17g.42543689G>TCA500217194NAGLUc.1683G>T (p.Leu561=)
c.1021G>T (n.1021G>T)
c.852G>T (p.Leu284=)
c.684G>T (p.Leu228=)
c.1740G>T (p.Leu580=)
17g.42543690G>ACA399604463NAGLUc.1684G>A (p.Asp562Asn)
c.1022G>A (n.1022G>A)
c.853G>A (p.Asp285Asn)
c.685G>A (p.Asp229Asn)
c.1741G>A (p.Asp581Asn)
 gnomAD v4
17g.42543690G>CCA399604465NAGLUc.1684G>C (p.Asp562His)
c.1022G>C (n.1022G>C)
c.853G>C (p.Asp285His)
c.685G>C (p.Asp229His)
c.1741G>C (p.Asp581His)
17g.42543690G>TCA399604466NAGLUc.1684G>T (p.Asp562Tyr)
c.1022G>T (n.1022G>T)
c.853G>T (p.Asp285Tyr)
c.685G>T (p.Asp229Tyr)
c.1741G>T (p.Asp581Tyr)
 gnomAD v4
17g.42543691A=CA2260530411NAGLUc.1685A= (p.Asp562=)
c.1023A= (n.1023A=)
c.854A= (p.Asp285=)
c.686A= (p.Asp229=)
c.1742A= (p.Asp581=)
17g.42543691A>CCA399604469NAGLUc.1685A>C (p.Asp562Ala)
c.1023A>C (n.1023A>C)
c.854A>C (p.Asp285Ala)
c.686A>C (p.Asp229Ala)
c.1742A>C (p.Asp581Ala)
17g.42543691A>GCA399604472NAGLUc.1685A>G (p.Asp562Gly)
c.1023A>G (n.1023A>G)
c.854A>G (p.Asp285Gly)
c.686A>G (p.Asp229Gly)
c.1742A>G (p.Asp581Gly)
 dbSNP gnomAD v4
17g.42543691A>TCA399604470NAGLUc.1685A>T (p.Asp562Val)
c.1023A>T (n.1023A>T)
c.854A>T (p.Asp285Val)
c.686A>T (p.Asp229Val)
c.1742A>T (p.Asp581Val)
17g.42543692C>ACA399604475NAGLUc.1686C>A (p.Asp562Glu)
c.1024C>A (n.1024C>A)
c.855C>A (p.Asp285Glu)
c.687C>A (p.Asp229Glu)
c.1743C>A (p.Asp581Glu)
17g.42543692C>GCA399604476NAGLUc.1686C>G (p.Asp562Glu)
c.1024C>G (n.1024C>G)
c.855C>G (p.Asp285Glu)
c.687C>G (p.Asp229Glu)
c.1743C>G (p.Asp581Glu)
17g.42543692C>TCA500217201NAGLUc.1686C>T (p.Asp562=)
c.1024C>T (n.1024C>T)
c.855C>T (p.Asp285=)
c.687C>T (p.Asp229=)
c.1743C>T (p.Asp581=)
 ClinVar dbSNP gnomAD v4
17g.42543693C>ACA399604478NAGLUc.1687C>A (p.Leu563Ile)
c.1025C>A (n.1025C>A)
c.856C>A (p.Leu286Ile)
c.688C>A (p.Leu230Ile)
c.1744C>A (p.Leu582Ile)
 gnomAD v4
17g.42543693C>GCA399604480NAGLUc.1687C>G (p.Leu563Val)
c.1025C>G (n.1025C>G)
c.856C>G (p.Leu286Val)
c.688C>G (p.Leu230Val)
c.1744C>G (p.Leu582Val)
 gnomAD v4
17g.42543693C>TCA399604482NAGLUc.1687C>T (p.Leu563Phe)
c.1025C>T (n.1025C>T)
c.856C>T (p.Leu286Phe)
c.688C>T (p.Leu230Phe)
c.1744C>T (p.Leu582Phe)
17g.42543696_42543699delCA2740095369NAGLUc.1690_1693del (p.Thr564GlyfsTer20)
c.1028_1031del (n.1028_1031del)
c.859_862del (p.Thr287GlyfsTer20)
c.691_694del (p.Thr231GlyfsTer20)
c.1747_1750del (p.Thr583GlyfsTer20)
 ClinVar
17g.42543694T>ACA8577078NAGLUc.1688T>A (p.Leu563His)
c.1026T>A (n.1026T>A)
c.857T>A (p.Leu286His)
c.689T>A (p.Leu230His)
c.1745T>A (p.Leu582His)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.42543694T>CCA399604484NAGLUc.1688T>C (p.Leu563Pro)
c.1026T>C (n.1026T>C)
c.857T>C (p.Leu286Pro)
c.689T>C (p.Leu230Pro)
c.1745T>C (p.Leu582Pro)
17g.42543694T>GCA399604486NAGLUc.1688T>G (p.Leu563Arg)
c.1026T>G (n.1026T>G)
c.857T>G (p.Leu286Arg)
c.689T>G (p.Leu230Arg)
c.1745T>G (p.Leu582Arg)
17g.42543694T=CA2260530412NAGLUc.1688T= (p.Leu563=)
c.1026T= (n.1026T=)
c.857T= (p.Leu286=)
c.689T= (p.Leu230=)
c.1745T= (p.Leu582=)
17g.42543695C>ACA500217212NAGLUc.1689C>A (p.Leu563=)
c.1027C>A (n.1027C>A)
c.858C>A (p.Leu286=)
c.690C>A (p.Leu230=)
c.1746C>A (p.Leu582=)
 dbSNP
17g.42543695C=CA2260530413NAGLUc.1689C= (p.Leu563=)
c.1027C= (n.1027C=)
c.858C= (p.Leu286=)
c.690C= (p.Leu230=)
c.1746C= (p.Leu582=)
17g.42543695C>GCA500217208NAGLUc.1689C>G (p.Leu563=)
c.1027C>G (n.1027C>G)
c.858C>G (p.Leu286=)
c.690C>G (p.Leu230=)
c.1746C>G (p.Leu582=)
17g.42543695C>TCA500217209NAGLUc.1689C>T (p.Leu563=)
c.1027C>T (n.1027C>T)
c.858C>T (p.Leu286=)
c.690C>T (p.Leu230=)
c.1746C>T (p.Leu582=)
17g.42543696A=CA2260530414NAGLUc.1690A= (p.Thr564=)
c.1028A= (n.1028A=)
c.859A= (p.Thr287=)
c.691A= (p.Thr231=)
c.1747A= (p.Thr583=)
17g.42543696A>CCA399604488NAGLUc.1690A>C (p.Thr564Pro)
c.1028A>C (n.1028A>C)
c.859A>C (p.Thr287Pro)
c.691A>C (p.Thr231Pro)
c.1747A>C (p.Thr583Pro)
17g.42543696A>GCA399604490NAGLUc.1690A>G (p.Thr564Ala)
c.1028A>G (n.1028A>G)
c.859A>G (p.Thr287Ala)
c.691A>G (p.Thr231Ala)
c.1747A>G (p.Thr583Ala)
 dbSNP gnomAD v3 gnomAD v4
17g.42543696A>TCA399604492NAGLUc.1690A>T (p.Thr564Ser)
c.1028A>T (n.1028A>T)
c.859A>T (p.Thr287Ser)
c.691A>T (p.Thr231Ser)
c.1747A>T (p.Thr583Ser)
17g.42543697C>ACA399604496NAGLUc.1691C>A (p.Thr564Asn)
c.1029C>A (n.1029C>A)
c.860C>A (p.Thr287Asn)
c.692C>A (p.Thr231Asn)
c.1748C>A (p.Thr583Asn)
17g.42543697C>GCA399604498NAGLUc.1691C>G (p.Thr564Ser)
c.1029C>G (n.1029C>G)
c.860C>G (p.Thr287Ser)
c.692C>G (p.Thr231Ser)
c.1748C>G (p.Thr583Ser)
17g.42543697C>TCA399604494NAGLUc.1691C>T (p.Thr564Ile)
c.1029C>T (n.1029C>T)
c.860C>T (p.Thr287Ile)
c.692C>T (p.Thr231Ile)
c.1748C>T (p.Thr583Ile)
 gnomAD v4 COSMIC
17g.42543697_42543700dupCA2695225866NAGLUc.1691_1694dup (p.Gln566SerfsTer13)
c.1029_1032dup (n.1029_1032dup)
c.860_863dup (p.Gln289SerfsTer13)
c.692_695dup (p.Gln233SerfsTer13)
c.1748_1751dup (p.Gln585SerfsTer13)
17g.42543698T>ACA500217220NAGLUc.1692T>A (p.Thr564=)
c.1030T>A (n.1030T>A)
c.861T>A (p.Thr287=)
c.693T>A (p.Thr231=)
c.1749T>A (p.Thr583=)
17g.42543698T>CCA500217219NAGLUc.1692T>C (p.Thr564=)
c.1030T>C (n.1030T>C)
c.861T>C (p.Thr287=)
c.693T>C (p.Thr231=)
c.1749T>C (p.Thr583=)
 ClinVar
17g.42543698T>GCA500217217NAGLUc.1692T>G (p.Thr564=)
c.1030T>G (n.1030T>G)
c.861T>G (p.Thr287=)
c.693T>G (p.Thr231=)
c.1749T>G (p.Thr583=)
17g.42543699C>ACA500217225NAGLUc.1693C>A (p.Arg565=)
c.1031C>A (n.1031C>A)
c.862C>A (p.Arg288=)
c.694C>A (p.Arg232=)
c.1750C>A (p.Arg584=)
 dbSNP gnomAD v3 gnomAD v4
17g.42543699C=CA2260530415NAGLUc.1693C= (p.Arg565=)
c.1031C= (n.1031C=)
c.862C= (p.Arg288=)
c.694C= (p.Arg232=)
c.1750C= (p.Arg584=)
17g.42543699C>GCA399604499NAGLUc.1693C>G (p.Arg565Gly)
c.1031C>G (n.1031C>G)
c.862C>G (p.Arg288Gly)
c.694C>G (p.Arg232Gly)
c.1750C>G (p.Arg584Gly)
17g.42543699C>TCA115050NAGLUc.1693C>T (p.Arg565Trp)
c.1031C>T (n.1031C>T)
c.862C>T (p.Arg288Trp)
c.694C>T (p.Arg232Trp)
c.1750C>T (p.Arg584Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42543700G>ACA129472NAGLUc.1694G>A (p.Arg565Gln)
c.1032G>A (n.1032G>A)
c.863G>A (p.Arg288Gln)
c.695G>A (p.Arg232Gln)
c.1751G>A (p.Arg584Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42543700G>CCA115051NAGLUc.1694G>C (p.Arg565Pro)
c.1032G>C (n.1032G>C)
c.863G>C (p.Arg288Pro)
c.695G>C (p.Arg232Pro)
c.1751G>C (p.Arg584Pro)
 ClinVar dbSNP gnomAD v4
17g.42543700G=CA2260530416NAGLUc.1694G= (p.Arg565=)
c.1032G= (n.1032G=)
c.863G= (p.Arg288=)
c.695G= (p.Arg232=)
c.1751G= (p.Arg584=)
17g.42543700G>TCA8577079NAGLUc.1694G>T (p.Arg565Leu)
c.1032G>T (n.1032G>T)
c.863G>T (p.Arg288Leu)
c.695G>T (p.Arg232Leu)
c.1751G>T (p.Arg584Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
17g.42543701G>ACA500217229NAGLUc.1695G>A (p.Arg565=)
c.1033G>A (n.1033G>A)
c.864G>A (p.Arg288=)
c.696G>A (p.Arg232=)
c.1752G>A (p.Arg584=)
 gnomAD v4
17g.42543701G>CCA500217230NAGLUc.1695G>C (p.Arg565=)
c.1033G>C (n.1033G>C)
c.864G>C (p.Arg288=)
c.696G>C (p.Arg232=)
c.1752G>C (p.Arg584=)
 gnomAD v4
17g.42543701G>TCA500217232NAGLUc.1695G>T (p.Arg565=)
c.1033G>T (n.1033G>T)
c.864G>T (p.Arg288=)
c.696G>T (p.Arg232=)
c.1752G>T (p.Arg584=)
 ClinVar gnomAD v4
17g.42543702C>ACA399604505NAGLUc.1696C>A (p.Gln566Lys)
c.1034C>A (n.1034C>A)
c.865C>A (p.Gln289Lys)
c.697C>A (p.Gln233Lys)
c.1753C>A (p.Gln585Lys)
17g.42543702C>GCA399604507NAGLUc.1696C>G (p.Gln566Glu)
c.1034C>G (n.1034C>G)
c.865C>G (p.Gln289Glu)
c.697C>G (p.Gln233Glu)
c.1753C>G (p.Gln585Glu)
17g.42543702C>TCA399604508NAGLUc.1696C>T (p.Gln566Ter)
c.1034C>T (n.1034C>T)
c.865C>T (p.Gln289Ter)
c.697C>T (p.Gln233Ter)
c.1753C>T (p.Gln585Ter)
 ClinVar
17g.42543703A>CCA399604511NAGLUc.1697A>C (p.Gln566Pro)
c.1035A>C (n.1035A>C)
c.866A>C (p.Gln289Pro)
c.698A>C (p.Gln233Pro)
c.1754A>C (p.Gln585Pro)
17g.42543703A>GCA399604512NAGLUc.1697A>G (p.Gln566Arg)
c.1035A>G (n.1035A>G)
c.866A>G (p.Gln289Arg)
c.698A>G (p.Gln233Arg)
c.1754A>G (p.Gln585Arg)
17g.42543703A>TCA399604514NAGLUc.1697A>T (p.Gln566Leu)
c.1035A>T (n.1035A>T)
c.866A>T (p.Gln289Leu)
c.698A>T (p.Gln233Leu)
c.1754A>T (p.Gln585Leu)
17g.42543704G>ACA500217237NAGLUc.1698G>A (p.Gln566=)
c.1036G>A (n.1036G>A)
c.867G>A (p.Gln289=)
c.699G>A (p.Gln233=)
c.1755G>A (p.Gln585=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.42543704G>CCA399604516NAGLUc.1698G>C (p.Gln566His)
c.1036G>C (n.1036G>C)
c.867G>C (p.Gln289His)
c.699G>C (p.Gln233His)
c.1755G>C (p.Gln585His)
17g.42543704G=CA2260530417NAGLUc.1698G= (p.Gln566=)
c.1036G= (n.1036G=)
c.867G= (p.Gln289=)
c.699G= (p.Gln233=)
c.1755G= (p.Gln585=)
17g.42543704G>TCA399604518NAGLUc.1698G>T (p.Gln566His)
c.1036G>T (n.1036G>T)
c.867G>T (p.Gln289His)
c.699G>T (p.Gln233His)
c.1755G>T (p.Gln585His)
17g.42543705G>ACA399604520NAGLUc.1699G>A (p.Ala567Thr)
c.1037G>A (n.1037G>A)
c.868G>A (p.Ala290Thr)
c.700G>A (p.Ala234Thr)
c.1756G>A (p.Ala586Thr)
 gnomAD v4
17g.42543705G>CCA399604521NAGLUc.1699G>C (p.Ala567Pro)
c.1037G>C (n.1037G>C)
c.868G>C (p.Ala290Pro)
c.700G>C (p.Ala234Pro)
c.1756G>C (p.Ala586Pro)
17g.42543705G=CA2260530418NAGLUc.1699G= (p.Ala567=)
c.1037G= (n.1037G=)
c.868G= (p.Ala290=)
c.700G= (p.Ala234=)
c.1756G= (p.Ala586=)
17g.42543705G>TCA399604522NAGLUc.1699G>T (p.Ala567Ser)
c.1037G>T (n.1037G>T)
c.868G>T (p.Ala290Ser)
c.700G>T (p.Ala234Ser)
c.1756G>T (p.Ala586Ser)
 ClinVar dbSNP gnomAD v4
17g.42543706C>ACA399604528NAGLUc.1700C>A (p.Ala567Glu)
c.1038C>A (n.1038C>A)
c.869C>A (p.Ala290Glu)
c.701C>A (p.Ala234Glu)
c.1757C>A (p.Ala586Glu)
17g.42543706C=CA2260530419NAGLUc.1700C= (p.Ala567=)
c.1038C= (n.1038C=)
c.869C= (p.Ala290=)
c.701C= (p.Ala234=)
c.1757C= (p.Ala586=)
17g.42543706C>GCA399604527NAGLUc.1700C>G (p.Ala567Gly)
c.1038C>G (n.1038C>G)
c.869C>G (p.Ala290Gly)
c.701C>G (p.Ala234Gly)
c.1757C>G (p.Ala586Gly)
17g.42543706C>TCA399604525NAGLUc.1700C>T (p.Ala567Val)
c.1038C>T (n.1038C>T)
c.869C>T (p.Ala290Val)
c.701C>T (p.Ala234Val)
c.1757C>T (p.Ala586Val)
 dbSNP gnomAD v2 gnomAD v4
17g.42543707A=CA2260530420NAGLUc.1701A= (p.Ala567=)
c.1039A= (n.1039A=)
c.870A= (p.Ala290=)
c.702A= (p.Ala234=)
c.1758A= (p.Ala586=)
17g.42543707A>CCA500217246NAGLUc.1701A>C (p.Ala567=)
c.1039A>C (n.1039A>C)
c.870A>C (p.Ala290=)
c.702A>C (p.Ala234=)
c.1758A>C (p.Ala586=)
17g.42543707A>GCA8577080NAGLUc.1701A>G (p.Ala567=)
c.1039A>G (n.1039A>G)
c.870A>G (p.Ala290=)
c.702A>G (p.Ala234=)
c.1758A>G (p.Ala586=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42543707A>TCA500217245NAGLUc.1701A>T (p.Ala567=)
c.1039A>T (n.1039A>T)
c.870A>T (p.Ala290=)
c.702A>T (p.Ala234=)
c.1758A>T (p.Ala586=)
17g.42543708G>ACA399604530NAGLUc.1702G>A (p.Val568Met)
c.1040G>A (n.1040G>A)
c.871G>A (p.Val291Met)
c.703G>A (p.Val235Met)
c.1759G>A (p.Val587Met)
17g.42543708G>CCA399604531NAGLUc.1702G>C (p.Val568Leu)
c.1040G>C (n.1040G>C)
c.871G>C (p.Val291Leu)
c.703G>C (p.Val235Leu)
c.1759G>C (p.Val587Leu)
17g.42543708G>TCA399604533NAGLUc.1702G>T (p.Val568Leu)
c.1040G>T (n.1040G>T)
c.871G>T (p.Val291Leu)
c.703G>T (p.Val235Leu)
c.1759G>T (p.Val587Leu)
17g.42543709T>ACA399604535NAGLUc.1703T>A (p.Val568Glu)
c.1041T>A (n.1041T>A)
c.872T>A (p.Val291Glu)
c.704T>A (p.Val235Glu)
c.1760T>A (p.Val587Glu)
17g.42543709T>CCA399604537NAGLUc.1703T>C (p.Val568Ala)
c.1041T>C (n.1041T>C)
c.872T>C (p.Val291Ala)
c.704T>C (p.Val235Ala)
c.1760T>C (p.Val587Ala)
 gnomAD v4
17g.42543709T>GCA8577081NAGLUc.1703T>G (p.Val568Gly)
c.1041T>G (n.1041T>G)
c.872T>G (p.Val291Gly)
c.704T>G (p.Val235Gly)
c.1760T>G (p.Val587Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42543709T=CA2260530421NAGLUc.1703T= (p.Val568=)
c.1041T= (n.1041T=)
c.872T= (p.Val291=)
c.704T= (p.Val235=)
c.1760T= (p.Val587=)
17g.42543710G>ACA500217184NAGLUc.1704G>A (p.Val568=)
c.1042G>A (n.1042G>A)
c.873G>A (p.Val291=)
c.705G>A (p.Val235=)
c.1761G>A (p.Val587=)
 ClinVar gnomAD v4
17g.42543710G>CCA500217185NAGLUc.1704G>C (p.Val568=)
c.1042G>C (n.1042G>C)
c.873G>C (p.Val291=)
c.705G>C (p.Val235=)
c.1761G>C (p.Val587=)
17g.42543710G>TCA500217182NAGLUc.1704G>T (p.Val568=)
c.1042G>T (n.1042G>T)
c.873G>T (p.Val291=)
c.705G>T (p.Val235=)
c.1761G>T (p.Val587=)
17g.42543711C>ACA399604538NAGLUc.1705C>A (p.Gln569Lys)
c.1043C>A (n.1043C>A)
c.874C>A (p.Gln292Lys)
c.706C>A (p.Gln236Lys)
c.1762C>A (p.Gln588Lys)
17g.42543711C=CA2260530422NAGLUc.1705C= (p.Gln569=)
c.1043C= (n.1043C=)
c.874C= (p.Gln292=)
c.706C= (p.Gln236=)
c.1762C= (p.Gln588=)
17g.42543711C>GCA399604539NAGLUc.1705C>G (p.Gln569Glu)
c.1043C>G (n.1043C>G)
c.874C>G (p.Gln292Glu)
c.706C>G (p.Gln236Glu)
c.1762C>G (p.Gln588Glu)
17g.42543711C>TCA399604541NAGLUc.1705C>T (p.Gln569Ter)
c.1043C>T (n.1043C>T)
c.874C>T (p.Gln292Ter)
c.706C>T (p.Gln236Ter)
c.1762C>T (p.Gln588Ter)
 ClinVar dbSNP gnomAD v4
17g.42543712A=CA2260530423NAGLUc.1706A= (p.Gln569=)
c.1044A= (n.1044A=)
c.875A= (p.Gln292=)
c.707A= (p.Gln236=)
c.1763A= (p.Gln588=)
17g.42543712A>CCA399604543NAGLUc.1706A>C (p.Gln569Pro)
c.1044A>C (n.1044A>C)
c.875A>C (p.Gln292Pro)
c.707A>C (p.Gln236Pro)
c.1763A>C (p.Gln588Pro)
17g.42543712A>GCA399604544NAGLUc.1706A>G (p.Gln569Arg)
c.1044A>G (n.1044A>G)
c.875A>G (p.Gln292Arg)
c.707A>G (p.Gln236Arg)
c.1763A>G (p.Gln588Arg)
 dbSNP gnomAD v4
17g.42543712A>TCA399604545NAGLUc.1706A>T (p.Gln569Leu)
c.1044A>T (n.1044A>T)
c.875A>T (p.Gln292Leu)
c.707A>T (p.Gln236Leu)
c.1763A>T (p.Gln588Leu)
17g.42543713G>ACA500217190NAGLUc.1707G>A (p.Gln569=)
c.1045G>A (n.1045G>A)
c.876G>A (p.Gln292=)
c.708G>A (p.Gln236=)
c.1764G>A (p.Gln588=)
 ClinVar dbSNP
17g.42543713G>CCA399604547NAGLUc.1707G>C (p.Gln569His)
c.1045G>C (n.1045G>C)
c.876G>C (p.Gln292His)
c.708G>C (p.Gln236His)
c.1764G>C (p.Gln588His)
17g.42543713G=CA2260530424NAGLUc.1707G= (p.Gln569=)
c.1045G= (n.1045G=)
c.876G= (p.Gln292=)
c.708G= (p.Gln236=)
c.1764G= (p.Gln588=)
17g.42543713G>TCA399604549NAGLUc.1707G>T (p.Gln569His)
c.1045G>T (n.1045G>T)
c.876G>T (p.Gln292His)
c.708G>T (p.Gln236His)
c.1764G>T (p.Gln588His)
 gnomAD v4
17g.42543714G>ACA399604551NAGLUc.1708G>A (p.Glu570Lys)
c.1046G>A (n.1046G>A)
c.877G>A (p.Glu293Lys)
c.709G>A (p.Glu237Lys)
c.1765G>A (p.Glu589Lys)
17g.42543714G>CCA399604552NAGLUc.1708G>C (p.Glu570Gln)
c.1046G>C (n.1046G>C)
c.877G>C (p.Glu293Gln)
c.709G>C (p.Glu237Gln)
c.1765G>C (p.Glu589Gln)
17g.42543714G=CA2260530425NAGLUc.1708G= (p.Glu570=)
c.1046G= (n.1046G=)
c.877G= (p.Glu293=)
c.709G= (p.Glu237=)
c.1765G= (p.Glu589=)
17g.42543714G>TCA399604554NAGLUc.1708G>T (p.Glu570Ter)
c.1046G>T (n.1046G>T)
c.877G>T (p.Glu293Ter)
c.709G>T (p.Glu237Ter)
c.1765G>T (p.Glu589Ter)
 ClinVar dbSNP
17g.42543715A=CA2260530426NAGLUc.1709A= (p.Glu570=)
c.1047A= (n.1047A=)
c.878A= (p.Glu293=)
c.710A= (p.Glu237=)
c.1766A= (p.Glu589=)
17g.42543715A>CCA290780974NAGLUc.1709A>C (p.Glu570Ala)
c.1047A>C (n.1047A>C)
c.878A>C (p.Glu293Ala)
c.710A>C (p.Glu237Ala)
c.1766A>C (p.Glu589Ala)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.42543715A>GCA399604557NAGLUc.1709A>G (p.Glu570Gly)
c.1047A>G (n.1047A>G)
c.878A>G (p.Glu293Gly)
c.710A>G (p.Glu237Gly)
c.1766A>G (p.Glu589Gly)
17g.42543715A>TCA399604558NAGLUc.1709A>T (p.Glu570Val)
c.1047A>T (n.1047A>T)
c.878A>T (p.Glu293Val)
c.710A>T (p.Glu237Val)
c.1766A>T (p.Glu589Val)
17g.42543716G>ACA500217198NAGLUc.1710G>A (p.Glu570=)
c.1048G>A (n.1048G>A)
c.879G>A (p.Glu293=)
c.711G>A (p.Glu237=)
c.1767G>A (p.Glu589=)
 dbSNP gnomAD v3 gnomAD v4
17g.42543716G>CCA399604561NAGLUc.1710G>C (p.Glu570Asp)
c.1048G>C (n.1048G>C)
c.879G>C (p.Glu293Asp)
c.711G>C (p.Glu237Asp)
c.1767G>C (p.Glu589Asp)
17g.42543716G=CA2260530427NAGLUc.1710G= (p.Glu570=)
c.1048G= (n.1048G=)
c.879G= (p.Glu293=)
c.711G= (p.Glu237=)
c.1767G= (p.Glu589=)
17g.42543716G>TCA399604563NAGLUc.1710G>T (p.Glu570Asp)
c.1048G>T (n.1048G>T)
c.879G>T (p.Glu293Asp)
c.711G>T (p.Glu237Asp)
c.1767G>T (p.Glu589Asp)
 ClinVar dbSNP
17g.42543717C>ACA399604565NAGLUc.1711C>A (p.Leu571Met)
c.1049C>A (n.1049C>A)
c.880C>A (p.Leu294Met)
c.712C>A (p.Leu238Met)
c.1768C>A (p.Leu590Met)
17g.42543717C>GCA399604566NAGLUc.1711C>G (p.Leu571Val)
c.1049C>G (n.1049C>G)
c.880C>G (p.Leu294Val)
c.712C>G (p.Leu238Val)
c.1768C>G (p.Leu590Val)
17g.42543717C>TCA500217204NAGLUc.1711C>T (p.Leu571=)
c.1049C>T (n.1049C>T)
c.880C>T (p.Leu294=)
c.712C>T (p.Leu238=)
c.1768C>T (p.Leu590=)
 ClinVar gnomAD v4
17g.42543718T>ACA399604569NAGLUc.1712T>A (p.Leu571Gln)
c.1050T>A (n.1050T>A)
c.881T>A (p.Leu294Gln)
c.713T>A (p.Leu238Gln)
c.1769T>A (p.Leu590Gln)
17g.42543718T>CCA290780978NAGLUc.1712T>C (p.Leu571Pro)
c.1050T>C (n.1050T>C)
c.881T>C (p.Leu294Pro)
c.713T>C (p.Leu238Pro)
c.1769T>C (p.Leu590Pro)
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.42543718T>GCA399604571NAGLUc.1712T>G (p.Leu571Arg)
c.1050T>G (n.1050T>G)
c.881T>G (p.Leu294Arg)
c.713T>G (p.Leu238Arg)
c.1769T>G (p.Leu590Arg)
17g.42543718T=CA2260530428NAGLUc.1712T= (p.Leu571=)
c.1050T= (n.1050T=)
c.881T= (p.Leu294=)
c.713T= (p.Leu238=)
c.1769T= (p.Leu590=)
17g.42543719G>ACA500217213NAGLUc.1713G>A (p.Leu571=)
c.1051G>A (n.1051G>A)
c.882G>A (p.Leu294=)
c.714G>A (p.Leu238=)
c.1770G>A (p.Leu590=)
17g.42543719G>CCA500217214NAGLUc.1713G>C (p.Leu571=)
c.1051G>C (n.1051G>C)
c.882G>C (p.Leu294=)
c.714G>C (p.Leu238=)
c.1770G>C (p.Leu590=)
17g.42543719G>TCA500217211NAGLUc.1713G>T (p.Leu571=)
c.1051G>T (n.1051G>T)
c.882G>T (p.Leu294=)
c.714G>T (p.Leu238=)
c.1770G>T (p.Leu590=)
17g.42543720G>ACA399604574NAGLUc.1714G>A (p.Val572Ile)
c.1052G>A (n.1052G>A)
c.883G>A (p.Val295Ile)
c.715G>A (p.Val239Ile)
c.1771G>A (p.Val591Ile)
 gnomAD v4
17g.42543720G>CCA399604578NAGLUc.1714G>C (p.Val572Leu)
c.1052G>C (n.1052G>C)
c.883G>C (p.Val295Leu)
c.715G>C (p.Val239Leu)
c.1771G>C (p.Val591Leu)
17g.42543720G>TCA399604576NAGLUc.1714G>T (p.Val572Phe)
c.1052G>T (n.1052G>T)
c.883G>T (p.Val295Phe)
c.715G>T (p.Val239Phe)
c.1771G>T (p.Val591Phe)
 gnomAD v4
17g.42543721T>ACA399604579NAGLUc.1715T>A (p.Val572Asp)
c.1053T>A (n.1053T>A)
c.884T>A (p.Val295Asp)
c.716T>A (p.Val239Asp)
c.1772T>A (p.Val591Asp)
17g.42543721T>CCA399604580NAGLUc.1715T>C (p.Val572Ala)
c.1053T>C (n.1053T>C)
c.884T>C (p.Val295Ala)
c.716T>C (p.Val239Ala)
c.1772T>C (p.Val591Ala)
17g.42543721T>GCA399604582NAGLUc.1715T>G (p.Val572Gly)
c.1053T>G (n.1053T>G)
c.884T>G (p.Val295Gly)
c.716T>G (p.Val239Gly)
c.1772T>G (p.Val591Gly)
 dbSNP
17g.42543721T=CA2260530429NAGLUc.1715T= (p.Val572=)
c.1053T= (n.1053T=)
c.884T= (p.Val295=)
c.716T= (p.Val239=)
c.1772T= (p.Val591=)
17g.42543722C>ACA500217224NAGLUc.1716C>A (p.Val572=)
c.1054C>A (n.1054C>A)
c.885C>A (p.Val295=)
c.717C>A (p.Val239=)
c.1773C>A (p.Val591=)
 gnomAD v4
17g.42543722C>GCA500217222NAGLUc.1716C>G (p.Val572=)
c.1054C>G (n.1054C>G)
c.885C>G (p.Val295=)
c.717C>G (p.Val239=)
c.1773C>G (p.Val591=)
17g.42543722C>TCA500217223NAGLUc.1716C>T (p.Val572=)
c.1054C>T (n.1054C>T)
c.885C>T (p.Val295=)
c.717C>T (p.Val239=)
c.1773C>T (p.Val591=)
17g.42543723A=CA2260530430NAGLUc.1717A= (p.Ser573=)
c.1055A= (n.1055A=)
c.886A= (p.Ser296=)
c.718A= (p.Ser240=)
c.1774A= (p.Ser592=)
17g.42543723A>CCA399604584NAGLUc.1717A>C (p.Ser573Arg)
c.1055A>C (n.1055A>C)
c.886A>C (p.Ser296Arg)
c.718A>C (p.Ser240Arg)
c.1774A>C (p.Ser592Arg)
17g.42543723A>GCA8577082NAGLUc.1717A>G (p.Ser573Gly)
c.1055A>G (n.1055A>G)
c.886A>G (p.Ser296Gly)
c.718A>G (p.Ser240Gly)
c.1774A>G (p.Ser592Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42543723A>TCA399604587NAGLUc.1717A>T (p.Ser573Cys)
c.1055A>T (n.1055A>T)
c.886A>T (p.Ser296Cys)
c.718A>T (p.Ser240Cys)
c.1774A>T (p.Ser592Cys)
17g.42543724G>ACA399604589NAGLUc.1718G>A (p.Ser573Asn)
c.1056G>A (n.1056G>A)
c.887G>A (p.Ser296Asn)
c.719G>A (p.Ser240Asn)
c.1775G>A (p.Ser592Asn)
17g.42543724G>CCA399604590NAGLUc.1718G>C (p.Ser573Thr)
c.1056G>C (n.1056G>C)
c.887G>C (p.Ser296Thr)
c.719G>C (p.Ser240Thr)
c.1775G>C (p.Ser592Thr)
17g.42543724G=CA2260530431NAGLUc.1718G= (p.Ser573=)
c.1056G= (n.1056G=)
c.887G= (p.Ser296=)
c.719G= (p.Ser240=)
c.1775G= (p.Ser592=)
17g.42543724G>TCA399604591NAGLUc.1718G>T (p.Ser573Ile)
c.1056G>T (n.1056G>T)
c.887G>T (p.Ser296Ile)
c.719G>T (p.Ser240Ile)
c.1775G>T (p.Ser592Ile)
 dbSNP gnomAD v4
17g.42543725C>ACA399604593NAGLUc.1719C>A (p.Ser573Arg)
c.1057C>A (n.1057C>A)
c.888C>A (p.Ser296Arg)
c.720C>A (p.Ser240Arg)
c.1776C>A (p.Ser592Arg)
 dbSNP gnomAD v2
17g.42543725C=CA2260530432NAGLUc.1719C= (p.Ser573=)
c.1057C= (n.1057C=)
c.888C= (p.Ser296=)
c.720C= (p.Ser240=)
c.1776C= (p.Ser592=)
17g.42543725C>GCA399604595NAGLUc.1719C>G (p.Ser573Arg)
c.1057C>G (n.1057C>G)
c.888C>G (p.Ser296Arg)
c.720C>G (p.Ser240Arg)
c.1776C>G (p.Ser592Arg)
17g.42543725C>TCA500217231NAGLUc.1719C>T (p.Ser573=)
c.1057C>T (n.1057C>T)
c.888C>T (p.Ser296=)
c.720C>T (p.Ser240=)
c.1776C>T (p.Ser592=)
 ClinVar dbSNP COSMIC
17g.42543726T>ACA399604598NAGLUc.1720T>A (p.Leu574Met)
c.1058T>A (n.1058T>A)
c.889T>A (p.Leu297Met)
c.721T>A (p.Leu241Met)
c.1777T>A (p.Leu593Met)
17g.42543726T>CCA500217233NAGLUc.1720T>C (p.Leu574=)
c.1058T>C (n.1058T>C)
c.889T>C (p.Leu297=)
c.721T>C (p.Leu241=)
c.1777T>C (p.Leu593=)
 gnomAD v4
17g.42543726T>GCA399604597NAGLUc.1720T>G (p.Leu574Val)
c.1058T>G (n.1058T>G)
c.889T>G (p.Leu297Val)
c.721T>G (p.Leu241Val)
c.1777T>G (p.Leu593Val)
17g.42543727T>ACA399604600NAGLUc.1721T>A (p.Leu574Ter)
c.1059T>A (n.1059T>A)
c.890T>A (p.Leu297Ter)
c.722T>A (p.Leu241Ter)
c.1778T>A (p.Leu593Ter)
17g.42543727T>CCA399604604NAGLUc.1721T>C (p.Leu574Ser)
c.1059T>C (n.1059T>C)
c.890T>C (p.Leu297Ser)
c.722T>C (p.Leu241Ser)
c.1778T>C (p.Leu593Ser)
 gnomAD v4
17g.42543727T>GCA399604602NAGLUc.1721T>G (p.Leu574Trp)
c.1059T>G (n.1059T>G)
c.890T>G (p.Leu297Trp)
c.722T>G (p.Leu241Trp)
c.1778T>G (p.Leu593Trp)
17g.42543728G>ACA500217240NAGLUc.1722G>A (p.Leu574=)
c.1060G>A (n.1060G>A)
c.891G>A (p.Leu297=)
c.723G>A (p.Leu241=)
c.1779G>A (p.Leu593=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.42543728G>CCA399604606NAGLUc.1722G>C (p.Leu574Phe)
c.1060G>C (n.1060G>C)
c.891G>C (p.Leu297Phe)
c.723G>C (p.Leu241Phe)
c.1779G>C (p.Leu593Phe)
17g.42543728G=CA2260530433NAGLUc.1722G= (p.Leu574=)
c.1060G= (n.1060G=)
c.891G= (p.Leu297=)
c.723G= (p.Leu241=)
c.1779G= (p.Leu593=)
17g.42543728G>TCA399604608NAGLUc.1722G>T (p.Leu574Phe)
c.1060G>T (n.1060G>T)
c.891G>T (p.Leu297Phe)
c.723G>T (p.Leu241Phe)
c.1779G>T (p.Leu593Phe)
17g.42543729T>ACA399604610NAGLUc.1723T>A (p.Tyr575Asn)
c.1061T>A (n.1061T>A)
c.892T>A (p.Tyr298Asn)
c.724T>A (p.Tyr242Asn)
c.1780T>A (p.Tyr594Asn)
17g.42543729T>CCA399604612NAGLUc.1723T>C (p.Tyr575His)
c.1061T>C (n.1061T>C)
c.892T>C (p.Tyr298His)
c.724T>C (p.Tyr242His)
c.1780T>C (p.Tyr594His)
 gnomAD v4
17g.42543729T>GCA399604614NAGLUc.1723T>G (p.Tyr575Asp)
c.1061T>G (n.1061T>G)
c.892T>G (p.Tyr298Asp)
c.724T>G (p.Tyr242Asp)
c.1780T>G (p.Tyr594Asp)
17g.42543730A=CA2260530434NAGLUc.1724A= (p.Tyr575=)
c.1062A= (n.1062A=)
c.893A= (p.Tyr298=)
c.725A= (p.Tyr242=)
c.1781A= (p.Tyr594=)
17g.42543730A>CCA399604616NAGLUc.1724A>C (p.Tyr575Ser)
c.1062A>C (n.1062A>C)
c.893A>C (p.Tyr298Ser)
c.725A>C (p.Tyr242Ser)
c.1781A>C (p.Tyr594Ser)
 dbSNP
17g.42543730A>GCA8577083NAGLUc.1724A>G (p.Tyr575Cys)
c.1062A>G (n.1062A>G)
c.893A>G (p.Tyr298Cys)
c.725A>G (p.Tyr242Cys)
c.1781A>G (p.Tyr594Cys)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.42543730A>TCA399604618NAGLUc.1724A>T (p.Tyr575Phe)
c.1062A>T (n.1062A>T)
c.893A>T (p.Tyr298Phe)
c.725A>T (p.Tyr242Phe)
c.1781A>T (p.Tyr594Phe)
17g.42543731C>ACA399604621NAGLUc.1725C>A (p.Tyr575Ter)
c.1063C>A (n.1063C>A)
c.894C>A (p.Tyr298Ter)
c.726C>A (p.Tyr242Ter)
c.1782C>A (p.Tyr594Ter)
17g.42543731C>GCA399604623NAGLUc.1725C>G (p.Tyr575Ter)
c.1063C>G (n.1063C>G)
c.894C>G (p.Tyr298Ter)
c.726C>G (p.Tyr242Ter)
c.1782C>G (p.Tyr594Ter)
17g.42543731C>TCA500217250NAGLUc.1725C>T (p.Tyr575=)
c.1063C>T (n.1063C>T)
c.894C>T (p.Tyr298=)
c.726C>T (p.Tyr242=)
c.1782C>T (p.Tyr594=)
 ClinVar
17g.42543732T>ACA399604625NAGLUc.1726T>A (p.Tyr576Asn)
c.1064T>A (n.1064T>A)
c.895T>A (p.Tyr299Asn)
c.727T>A (p.Tyr243Asn)
c.1783T>A (p.Tyr595Asn)
17g.42543732T>CCA399604627NAGLUc.1726T>C (p.Tyr576His)
c.1064T>C (n.1064T>C)
c.895T>C (p.Tyr299His)
c.727T>C (p.Tyr243His)
c.1783T>C (p.Tyr595His)
17g.42543732T>GCA399604629NAGLUc.1726T>G (p.Tyr576Asp)
c.1064T>G (n.1064T>G)
c.895T>G (p.Tyr299Asp)
c.727T>G (p.Tyr243Asp)
c.1783T>G (p.Tyr595Asp)
17g.42543733A>CCA399604631NAGLUc.1727A>C (p.Tyr576Ser)
c.1065A>C (n.1065A>C)
c.896A>C (p.Tyr299Ser)
c.728A>C (p.Tyr243Ser)
c.1784A>C (p.Tyr595Ser)
17g.42543733A>GCA399604633NAGLUc.1727A>G (p.Tyr576Cys)
c.1065A>G (n.1065A>G)
c.896A>G (p.Tyr299Cys)
c.728A>G (p.Tyr243Cys)
c.1784A>G (p.Tyr595Cys)
 gnomAD v4
17g.42543733A>TCA399604632NAGLUc.1727A>T (p.Tyr576Phe)
c.1065A>T (n.1065A>T)
c.896A>T (p.Tyr299Phe)
c.728A>T (p.Tyr243Phe)
c.1784A>T (p.Tyr595Phe)
17g.42543734T>ACA399604636NAGLUc.1728T>A (p.Tyr576Ter)
c.1066T>A (n.1066T>A)
c.897T>A (p.Tyr299Ter)
c.729T>A (p.Tyr243Ter)
c.1785T>A (p.Tyr595Ter)
17g.42543734T>CCA290780981NAGLUc.1728T>C (p.Tyr576=)
c.1066T>C (n.1066T>C)
c.897T>C (p.Tyr299=)
c.729T>C (p.Tyr243=)
c.1785T>C (p.Tyr595=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.42543734T>GCA399604638NAGLUc.1728T>G (p.Tyr576Ter)
c.1066T>G (n.1066T>G)
c.897T>G (p.Tyr299Ter)
c.729T>G (p.Tyr243Ter)
c.1785T>G (p.Tyr595Ter)
17g.42543734T=CA2260530435NAGLUc.1728T= (p.Tyr576=)
c.1066T= (n.1066T=)
c.897T= (p.Tyr299=)
c.729T= (p.Tyr243=)
c.1785T= (p.Tyr595=)
17g.42543735G>ACA399604640NAGLUc.1729G>A (p.Glu577Lys)
c.1067G>A (n.1067G>A)
c.898G>A (p.Glu300Lys)
c.730G>A (p.Glu244Lys)
c.1786G>A (p.Glu596Lys)
 gnomAD v4
17g.42543735G>CCA399604642NAGLUc.1729G>C (p.Glu577Gln)
c.1067G>C (n.1067G>C)
c.898G>C (p.Glu300Gln)
c.730G>C (p.Glu244Gln)
c.1786G>C (p.Glu596Gln)
17g.42543735G>TCA399604644NAGLUc.1729G>T (p.Glu577Ter)
c.1067G>T (n.1067G>T)
c.898G>T (p.Glu300Ter)
c.730G>T (p.Glu244Ter)
c.1786G>T (p.Glu596Ter)
 gnomAD v4
17g.42543736A>CCA399604646NAGLUc.1730A>C (p.Glu577Ala)
c.1068A>C (n.1068A>C)
c.899A>C (p.Glu300Ala)
c.731A>C (p.Glu244Ala)
c.1787A>C (p.Glu596Ala)
17g.42543736A>GCA399604648NAGLUc.1730A>G (p.Glu577Gly)
c.1068A>G (n.1068A>G)
c.899A>G (p.Glu300Gly)
c.731A>G (p.Glu244Gly)
c.1787A>G (p.Glu596Gly)
17g.42543736A>TCA399604649NAGLUc.1730A>T (p.Glu577Val)
c.1068A>T (n.1068A>T)
c.899A>T (p.Glu300Val)
c.731A>T (p.Glu244Val)
c.1787A>T (p.Glu596Val)
17g.42543737G>ACA500217261NAGLUc.1731G>A (p.Glu577=)
c.1069G>A (n.1069G>A)
c.900G>A (p.Glu300=)
c.732G>A (p.Glu244=)
c.1788G>A (p.Glu596=)
 dbSNP
17g.42543737G>CCA399604652NAGLUc.1731G>C (p.Glu577Asp)
c.1069G>C (n.1069G>C)
c.900G>C (p.Glu300Asp)
c.732G>C (p.Glu244Asp)
c.1788G>C (p.Glu596Asp)
 gnomAD v4
17g.42543737G=CA2260530436NAGLUc.1731G= (p.Glu577=)
c.1069G= (n.1069G=)
c.900G= (p.Glu300=)
c.732G= (p.Glu244=)
c.1788G= (p.Glu596=)
17g.42543737G>TCA399604654NAGLUc.1731G>T (p.Glu577Asp)
c.1069G>T (n.1069G>T)
c.900G>T (p.Glu300Asp)
c.732G>T (p.Glu244Asp)
c.1788G>T (p.Glu596Asp)
17g.42543738G>ACA399604660NAGLUc.1732G>A (p.Glu578Lys)
c.1070G>A (n.1070G>A)
c.901G>A (p.Glu301Lys)
c.733G>A (p.Glu245Lys)
c.1789G>A (p.Glu597Lys)
 gnomAD v4
17g.42543738G>CCA399604658NAGLUc.1732G>C (p.Glu578Gln)
c.1070G>C (n.1070G>C)
c.901G>C (p.Glu301Gln)
c.733G>C (p.Glu245Gln)
c.1789G>C (p.Glu597Gln)
17g.42543738G>TCA399604656NAGLUc.1732G>T (p.Glu578Ter)
c.1070G>T (n.1070G>T)
c.901G>T (p.Glu301Ter)
c.733G>T (p.Glu245Ter)
c.1789G>T (p.Glu597Ter)
17g.42543739A>CCA399604662NAGLUc.1733A>C (p.Glu578Ala)
c.1071A>C (n.1071A>C)
c.902A>C (p.Glu301Ala)
c.734A>C (p.Glu245Ala)
c.1790A>C (p.Glu597Ala)
17g.42543739A>GCA399604664NAGLUc.1733A>G (p.Glu578Gly)
c.1071A>G (n.1071A>G)
c.902A>G (p.Glu301Gly)
c.734A>G (p.Glu245Gly)
c.1790A>G (p.Glu597Gly)
17g.42543739A>TCA399604665NAGLUc.1733A>T (p.Glu578Val)
c.1071A>T (n.1071A>T)
c.902A>T (p.Glu301Val)
c.734A>T (p.Glu245Val)
c.1790A>T (p.Glu597Val)
17g.42543740G>ACA500217265NAGLUc.1734G>A (p.Glu578=)
c.1072G>A (n.1072G>A)
c.903G>A (p.Glu301=)
c.735G>A (p.Glu245=)
c.1791G>A (p.Glu597=)
17g.42543740G>CCA399604668NAGLUc.1734G>C (p.Glu578Asp)
c.1072G>C (n.1072G>C)
c.903G>C (p.Glu301Asp)
c.735G>C (p.Glu245Asp)
c.1791G>C (p.Glu597Asp)
 gnomAD v4
17g.42543740G>TCA399604669NAGLUc.1734G>T (p.Glu578Asp)
c.1072G>T (n.1072G>T)
c.903G>T (p.Glu301Asp)
c.735G>T (p.Glu245Asp)
c.1791G>T (p.Glu597Asp)
17g.42543741G>ACA399604672NAGLUc.1735G>A (p.Ala579Thr)
c.1073G>A (n.1073G>A)
c.904G>A (p.Ala302Thr)
c.736G>A (p.Ala246Thr)
c.1792G>A (p.Ala598Thr)
 ClinVar gnomAD v4
17g.42543741G>CCA399604674NAGLUc.1735G>C (p.Ala579Pro)
c.1073G>C (n.1073G>C)
c.904G>C (p.Ala302Pro)
c.736G>C (p.Ala246Pro)
c.1792G>C (p.Ala598Pro)
17g.42543741G>TCA399604675NAGLUc.1735G>T (p.Ala579Ser)
c.1073G>T (n.1073G>T)
c.904G>T (p.Ala302Ser)
c.736G>T (p.Ala246Ser)
c.1792G>T (p.Ala598Ser)
 gnomAD v4
17g.42543742C>ACA399604676NAGLUc.1736C>A (p.Ala579Glu)
c.1074C>A (n.1074C>A)
c.905C>A (p.Ala302Glu)
c.737C>A (p.Ala246Glu)
c.1793C>A (p.Ala598Glu)
17g.42543742C=CA2260530437NAGLUc.1736C= (p.Ala579=)
c.1074C= (n.1074C=)
c.905C= (p.Ala302=)
c.737C= (p.Ala246=)
c.1793C= (p.Ala598=)
17g.42543742C>GCA399604678NAGLUc.1736C>G (p.Ala579Gly)
c.1074C>G (n.1074C>G)
c.905C>G (p.Ala302Gly)
c.737C>G (p.Ala246Gly)
c.1793C>G (p.Ala598Gly)
17g.42543742C>TCA290780988NAGLUc.1736C>T (p.Ala579Val)
c.1074C>T (n.1074C>T)
c.905C>T (p.Ala302Val)
c.737C>T (p.Ala246Val)
c.1793C>T (p.Ala598Val)
 dbSNP gnomAD v3 gnomAD v4
17g.42543743A>CCA500217275NAGLUc.1737A>C (p.Ala579=)
c.1075A>C (n.1075A>C)
c.906A>C (p.Ala302=)
c.738A>C (p.Ala246=)
c.1794A>C (p.Ala598=)
17g.42543743A>GCA500217274NAGLUc.1737A>G (p.Ala579=)
c.1075A>G (n.1075A>G)
c.906A>G (p.Ala302=)
c.738A>G (p.Ala246=)
c.1794A>G (p.Ala598=)
17g.42543743A>TCA500217273NAGLUc.1737A>T (p.Ala579=)
c.1075A>T (n.1075A>T)
c.906A>T (p.Ala302=)
c.738A>T (p.Ala246=)
c.1794A>T (p.Ala598=)
17g.42543746_42543748delCA2580613139NAGLUc.1740_1742del (p.Arg580del)
c.1078_1080del (n.1078_1080del)
c.909_911del (p.Arg303del)
c.741_743del (p.Arg247del)
c.1797_1799del (p.Arg599del)
 ClinVar
17g.42543744A=CA2260530438NAGLUc.1738A= (p.Arg580=)
c.1076A= (n.1076A=)
c.907A= (p.Arg303=)
c.739A= (p.Arg247=)
c.1795A= (p.Arg599=)
17g.42543744A>CCA500217276NAGLUc.1738A>C (p.Arg580=)
c.1076A>C (n.1076A>C)
c.907A>C (p.Arg303=)
c.739A>C (p.Arg247=)
c.1795A>C (p.Arg599=)
17g.42543744A>GCA399604681NAGLUc.1738A>G (p.Arg580Gly)
c.1076A>G (n.1076A>G)
c.907A>G (p.Arg303Gly)
c.739A>G (p.Arg247Gly)
c.1795A>G (p.Arg599Gly)
 dbSNP
17g.42543744A>TCA399604683NAGLUc.1738A>T (p.Arg580Ter)
c.1076A>T (n.1076A>T)
c.907A>T (p.Arg303Ter)
c.739A>T (p.Arg247Ter)
c.1795A>T (p.Arg599Ter)
17g.42543744_42543750dupCA2573054424NAGLUc.1738_1744dup (p.Ala582GlufsTer22)
c.1076_1082dup (n.1076_1082dup)
c.907_913dup (p.Ala305GlufsTer22)
c.739_745dup (p.Ala249GlufsTer22)
c.1795_1801dup (p.Ala601GlufsTer22)
 ClinVar dbSNP
17g.42543745G>ACA399604689NAGLUc.1739G>A (p.Arg580Lys)
c.1077G>A (n.1077G>A)
c.908G>A (p.Arg303Lys)
c.740G>A (p.Arg247Lys)
c.1796G>A (p.Arg599Lys)
 dbSNP gnomAD v4
17g.42543745G>CCA399604686NAGLUc.1739G>C (p.Arg580Thr)
c.1077G>C (n.1077G>C)
c.908G>C (p.Arg303Thr)
c.740G>C (p.Arg247Thr)
c.1796G>C (p.Arg599Thr)
17g.42543745G=CA2260530439NAGLUc.1739G= (p.Arg580=)
c.1077G= (n.1077G=)
c.908G= (p.Arg303=)
c.740G= (p.Arg247=)
c.1796G= (p.Arg599=)
17g.42543745G>TCA399604687NAGLUc.1739G>T (p.Arg580Ile)
c.1077G>T (n.1077G>T)
c.908G>T (p.Arg303Ile)
c.740G>T (p.Arg247Ile)
c.1796G>T (p.Arg599Ile)
17g.42543746A>CCA399604691NAGLUc.1740A>C (p.Arg580Ser)
c.1078A>C (n.1078A>C)
c.909A>C (p.Arg303Ser)
c.741A>C (p.Arg247Ser)
c.1797A>C (p.Arg599Ser)
17g.42543746A>GCA500217283NAGLUc.1740A>G (p.Arg580=)
c.1078A>G (n.1078A>G)
c.909A>G (p.Arg303=)
c.741A>G (p.Arg247=)
c.1797A>G (p.Arg599=)
17g.42543746A>TCA399604693NAGLUc.1740A>T (p.Arg580Ser)
c.1078A>T (n.1078A>T)
c.909A>T (p.Arg303Ser)
c.741A>T (p.Arg247Ser)
c.1797A>T (p.Arg599Ser)
17g.42543747A>CCA399604696NAGLUc.1741A>C (p.Ser581Arg)
c.1079A>C (n.1079A>C)
c.910A>C (p.Ser304Arg)
c.742A>C (p.Ser248Arg)
c.1798A>C (p.Ser600Arg)
17g.42543747A>GCA399604698NAGLUc.1741A>G (p.Ser581Gly)
c.1079A>G (n.1079A>G)
c.910A>G (p.Ser304Gly)
c.742A>G (p.Ser248Gly)
c.1798A>G (p.Ser600Gly)
17g.42543747A>TCA399604699NAGLUc.1741A>T (p.Ser581Cys)
c.1079A>T (n.1079A>T)
c.910A>T (p.Ser304Cys)
c.742A>T (p.Ser248Cys)
c.1798A>T (p.Ser600Cys)
17g.42543748G>ACA399604700NAGLUc.1742G>A (p.Ser581Asn)
c.1080G>A (n.1080G>A)
c.911G>A (p.Ser304Asn)
c.743G>A (p.Ser248Asn)
c.1799G>A (p.Ser600Asn)
 gnomAD v4
17g.42543748G>CCA399604701NAGLUc.1742G>C (p.Ser581Thr)
c.1080G>C (n.1080G>C)
c.911G>C (p.Ser304Thr)
c.743G>C (p.Ser248Thr)
c.1799G>C (p.Ser600Thr)
17g.42543748G>TCA399604702NAGLUc.1742G>T (p.Ser581Ile)
c.1080G>T (n.1080G>T)
c.911G>T (p.Ser304Ile)
c.743G>T (p.Ser248Ile)
c.1799G>T (p.Ser600Ile)
 gnomAD v4
17g.42543749C>ACA399604704NAGLUc.1743C>A (p.Ser581Arg)
c.1081C>A (n.1081C>A)
c.912C>A (p.Ser304Arg)
c.744C>A (p.Ser248Arg)
c.1800C>A (p.Ser600Arg)
 gnomAD v4
17g.42543749C=CA2260530440NAGLUc.1743C= (p.Ser581=)
c.1081C= (n.1081C=)
c.912C= (p.Ser304=)
c.744C= (p.Ser248=)
c.1800C= (p.Ser600=)
17g.42543749C>GCA399604706NAGLUc.1743C>G (p.Ser581Arg)
c.1081C>G (n.1081C>G)
c.912C>G (p.Ser304Arg)
c.744C>G (p.Ser248Arg)
c.1800C>G (p.Ser600Arg)
17g.42543749C>TCA500217287NAGLUc.1743C>T (p.Ser581=)
c.1081C>T (n.1081C>T)
c.912C>T (p.Ser304=)
c.744C>T (p.Ser248=)
c.1800C>T (p.Ser600=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.42543750G>ACA8577084NAGLUc.1744G>A (p.Ala582Thr)
c.1082G>A (n.1082G>A)
c.913G>A (p.Ala305Thr)
c.745G>A (p.Ala249Thr)
c.1801G>A (p.Ala601Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42543750G>CCA8577085NAGLUc.1744G>C (p.Ala582Pro)
c.1082G>C (n.1082G>C)
c.913G>C (p.Ala305Pro)
c.745G>C (p.Ala249Pro)
c.1801G>C (p.Ala601Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.42543750G=CA2260530441NAGLUc.1744G= (p.Ala582=)
c.1082G= (n.1082G=)
c.913G= (p.Ala305=)
c.745G= (p.Ala249=)
c.1801G= (p.Ala601=)
17g.42543750G>TCA399604710NAGLUc.1744G>T (p.Ala582Ser)
c.1082G>T (n.1082G>T)
c.913G>T (p.Ala305Ser)
c.745G>T (p.Ala249Ser)
c.1801G>T (p.Ala601Ser)
 ClinVar gnomAD v4
17g.42543751C>ACA399604715NAGLUc.1745C>A (p.Ala582Asp)
c.1083C>A (n.1083C>A)
c.914C>A (p.Ala305Asp)
c.746C>A (p.Ala249Asp)
c.1802C>A (p.Ala601Asp)
17g.42543751C>GCA399604716NAGLUc.1745C>G (p.Ala582Gly)
c.1083C>G (n.1083C>G)
c.914C>G (p.Ala305Gly)
c.746C>G (p.Ala249Gly)
c.1802C>G (p.Ala601Gly)
17g.42543751C>TCA399604712NAGLUc.1745C>T (p.Ala582Val)
c.1083C>T (n.1083C>T)
c.914C>T (p.Ala305Val)
c.746C>T (p.Ala249Val)
c.1802C>T (p.Ala601Val)
17g.42543752C>ACA500217293NAGLUc.1746C>A (p.Ala582=)
c.1084C>A (n.1084C>A)
c.915C>A (p.Ala305=)
c.747C>A (p.Ala249=)
c.1803C>A (p.Ala601=)
17g.42543752C=CA2260530442NAGLUc.1746C= (p.Ala582=)
c.1084C= (n.1084C=)
c.915C= (p.Ala305=)
c.747C= (p.Ala249=)
c.1803C= (p.Ala601=)
17g.42543752C>GCA500217296NAGLUc.1746C>G (p.Ala582=)
c.1084C>G (n.1084C>G)
c.915C>G (p.Ala305=)
c.747C>G (p.Ala249=)
c.1803C>G (p.Ala601=)
17g.42543752C>TCA500217295NAGLUc.1746C>T (p.Ala582=)
c.1084C>T (n.1084C>T)
c.915C>T (p.Ala305=)
c.747C>T (p.Ala249=)
c.1803C>T (p.Ala601=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.42543753T>ACA399604720NAGLUc.1747T>A (p.Tyr583Asn)
c.1085T>A (n.1085T>A)
c.916T>A (p.Tyr306Asn)
c.748T>A (p.Tyr250Asn)
c.1804T>A (p.Tyr602Asn)
17g.42543753T>CCA399604718NAGLUc.1747T>C (p.Tyr583His)
c.1085T>C (n.1085T>C)
c.916T>C (p.Tyr306His)
c.748T>C (p.Tyr250His)
c.1804T>C (p.Tyr602His)
 gnomAD v4
17g.42543753T>GCA399604722NAGLUc.1747T>G (p.Tyr583Asp)
c.1085T>G (n.1085T>G)
c.916T>G (p.Tyr306Asp)
c.748T>G (p.Tyr250Asp)
c.1804T>G (p.Tyr602Asp)
17g.42543754A>CCA399604724NAGLUc.1748A>C (p.Tyr583Ser)
c.1086A>C (n.1086A>C)
c.917A>C (p.Tyr306Ser)
c.749A>C (p.Tyr250Ser)
c.1805A>C (p.Tyr602Ser)
17g.42543754A>GCA399604726NAGLUc.1748A>G (p.Tyr583Cys)
c.1086A>G (n.1086A>G)
c.917A>G (p.Tyr306Cys)
c.749A>G (p.Tyr250Cys)
c.1805A>G (p.Tyr602Cys)
17g.42543754A>TCA399604728NAGLUc.1748A>T (p.Tyr583Phe)
c.1086A>T (n.1086A>T)
c.917A>T (p.Tyr306Phe)
c.749A>T (p.Tyr250Phe)
c.1805A>T (p.Tyr602Phe)
17g.42543754_42543755delinsACCA2260530443NAGLUc.1748_1749delinsAC (p.Tyr583=)
c.1086_1087delinsAC (n.1086_1087delinsAC)
c.917_918delinsAC (p.Tyr306=)
c.749_750delinsAC (p.Tyr250=)
c.1805_1806delinsAC (p.Tyr602=)
17g.42543755C>ACA399604730NAGLUc.1749C>A (p.Tyr583Ter)
c.1087C>A (n.1087C>A)
c.918C>A (p.Tyr306Ter)
c.750C>A (p.Tyr250Ter)
c.1806C>A (p.Tyr602Ter)
17g.42543755C=CA2260530445NAGLUc.1749C= (p.Tyr583=)
c.1087C= (n.1087C=)
c.918C= (p.Tyr306=)
c.750C= (p.Tyr250=)
c.1806C= (p.Tyr602=)
17g.42543755C>GCA399604732NAGLUc.1749C>G (p.Tyr583Ter)
c.1087C>G (n.1087C>G)
c.918C>G (p.Tyr306Ter)
c.750C>G (p.Tyr250Ter)
c.1806C>G (p.Tyr602Ter)
17g.42543755C>TCA500217301NAGLUc.1749C>T (p.Tyr583=)
c.1087C>T (n.1087C>T)
c.918C>T (p.Tyr306=)
c.750C>T (p.Tyr250=)
c.1806C>T (p.Tyr602=)
 dbSNP gnomAD v2 gnomAD v4
17g.42543756delCA2260530444NAGLUc.1750del (p.Leu584Ter)
c.1088del (n.1088del)
c.919del (p.Leu307Ter)
c.751del (p.Leu251Ter)
c.1807del (p.Leu603Ter)
 dbSNP
17g.42543756C>ACA399604737NAGLUc.1750C>A (p.Leu584Met)
c.1088C>A (n.1088C>A)
c.919C>A (p.Leu307Met)
c.751C>A (p.Leu251Met)
c.1807C>A (p.Leu603Met)
17g.42543756C=CA2260530446NAGLUc.1750C= (p.Leu584=)
c.1088C= (n.1088C=)
c.919C= (p.Leu307=)
c.751C= (p.Leu251=)
c.1807C= (p.Leu603=)
17g.42543756C>GCA399604735NAGLUc.1750C>G (p.Leu584Val)
c.1088C>G (n.1088C>G)
c.919C>G (p.Leu307Val)
c.751C>G (p.Leu251Val)
c.1807C>G (p.Leu603Val)
17g.42543756C>TCA8577086NAGLUc.1750C>T (p.Leu584=)
c.1088C>T (n.1088C>T)
c.919C>T (p.Leu307=)
c.751C>T (p.Leu251=)
c.1807C>T (p.Leu603=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42543757T>ACA399604739NAGLUc.1751T>A (p.Leu584Gln)
c.1089T>A (n.1089T>A)
c.920T>A (p.Leu307Gln)
c.752T>A (p.Leu251Gln)
c.1808T>A (p.Leu603Gln)
17g.42543757T>CCA399604741NAGLUc.1751T>C (p.Leu584Pro)
c.1089T>C (n.1089T>C)
c.920T>C (p.Leu307Pro)
c.752T>C (p.Leu251Pro)
c.1808T>C (p.Leu603Pro)
17g.42543757T>GCA399604743NAGLUc.1751T>G (p.Leu584Arg)
c.1089T>G (n.1089T>G)
c.920T>G (p.Leu307Arg)
c.752T>G (p.Leu251Arg)
c.1808T>G (p.Leu603Arg)
17g.42543758G>ACA500217308NAGLUc.1752G>A (p.Leu584=)
c.1090G>A (n.1090G>A)
c.921G>A (p.Leu307=)
c.753G>A (p.Leu251=)
c.1809G>A (p.Leu603=)
17g.42543758G>CCA500217307NAGLUc.1752G>C (p.Leu584=)
c.1090G>C (n.1090G>C)
c.921G>C (p.Leu307=)
c.753G>C (p.Leu251=)
c.1809G>C (p.Leu603=)
17g.42543758G>TCA500217306NAGLUc.1752G>T (p.Leu584=)
c.1090G>T (n.1090G>T)
c.921G>T (p.Leu307=)
c.753G>T (p.Leu251=)
c.1809G>T (p.Leu603=)
17g.42543759A>CCA399604745NAGLUc.1753A>C (p.Ser585Arg)
c.1091A>C (n.1091A>C)
c.922A>C (p.Ser308Arg)
c.754A>C (p.Ser252Arg)
c.1810A>C (p.Ser604Arg)
17g.42543759A>GCA399604747NAGLUc.1753A>G (p.Ser585Gly)
c.1091A>G (n.1091A>G)
c.922A>G (p.Ser308Gly)
c.754A>G (p.Ser252Gly)
c.1810A>G (p.Ser604Gly)
17g.42543759A>TCA399604749NAGLUc.1753A>T (p.Ser585Cys)
c.1091A>T (n.1091A>T)
c.922A>T (p.Ser308Cys)
c.754A>T (p.Ser252Cys)
c.1810A>T (p.Ser604Cys)
17g.42543760G>ACA399604750NAGLUc.1754G>A (p.Ser585Asn)
c.1092G>A (n.1092G>A)
c.923G>A (p.Ser308Asn)
c.755G>A (p.Ser252Asn)
c.1811G>A (p.Ser604Asn)
 gnomAD v4
17g.42543760G>CCA399604752NAGLUc.1754G>C (p.Ser585Thr)
c.1092G>C (n.1092G>C)
c.923G>C (p.Ser308Thr)
c.755G>C (p.Ser252Thr)
c.1811G>C (p.Ser604Thr)
17g.42543760G>TCA399604751NAGLUc.1754G>T (p.Ser585Ile)
c.1092G>T (n.1092G>T)
c.923G>T (p.Ser308Ile)
c.755G>T (p.Ser252Ile)
c.1811G>T (p.Ser604Ile)
 gnomAD v4

Number of alleles fetched