| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.42543526A= | CA2260530329 | NAGLU | c.1520A= (p.Glu507=) c.858A= (n.858A=) c.559A= c.689A= (p.Glu230=) c.521A= (p.Glu174=) c.1577A= (p.Glu526=) | |
| 17 | g.42543526A>C | CA290780720 | NAGLU | c.1520A>C (p.Glu507Ala) c.858A>C (n.858A>C) c.559A>C c.689A>C (p.Glu230Ala) c.521A>C (p.Glu174Ala) c.1577A>C (p.Glu526Ala) | dbSNP |
| 17 | g.42543526A>G | CA399604091 | NAGLU | c.1520A>G (p.Glu507Gly) c.858A>G (n.858A>G) c.559A>G c.689A>G (p.Glu230Gly) c.521A>G (p.Glu174Gly) c.1577A>G (p.Glu526Gly) | gnomAD v4 |
| 17 | g.42543526A>T | CA399604092 | NAGLU | c.1520A>T (p.Glu507Val) c.858A>T (n.858A>T) c.559A>T c.689A>T (p.Glu230Val) c.521A>T (p.Glu174Val) c.1577A>T (p.Glu526Val) | gnomAD v4 |
| 17 | g.42543527G>A | CA500217025 | NAGLU | c.1521G>A (p.Glu507=) c.859G>A (n.859G>A) c.560G>A c.690G>A (p.Glu230=) c.522G>A (p.Glu174=) c.1578G>A (p.Glu526=) | gnomAD v4 |
| 17 | g.42543527G>C | CA399604093 | NAGLU | c.1521G>C (p.Glu507Asp) c.859G>C (n.859G>C) c.560G>C c.690G>C (p.Glu230Asp) c.522G>C (p.Glu174Asp) c.1578G>C (p.Glu526Asp) | |
| 17 | g.42543527G>T | CA399604094 | NAGLU | c.1521G>T (p.Glu507Asp) c.859G>T (n.859G>T) c.560G>T c.690G>T (p.Glu230Asp) c.522G>T (p.Glu174Asp) c.1578G>T (p.Glu526Asp) | gnomAD v4 |
| 17 | g.42543528G>A | CA399604095 | NAGLU | c.1522G>A (p.Ala508Thr) c.860G>A (n.860G>A) c.561G>A c.691G>A (p.Ala231Thr) c.523G>A (p.Ala175Thr) c.1579G>A (p.Ala527Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.42543528G>C | CA399604096 | NAGLU | c.1522G>C (p.Ala508Pro) c.860G>C (n.860G>C) c.561G>C c.691G>C (p.Ala231Pro) c.523G>C (p.Ala175Pro) c.1579G>C (p.Ala527Pro) | |
| 17 | g.42543528G= | CA2260530330 | NAGLU | c.1522G= (p.Ala508=) c.860G= (n.860G=) c.561G= c.691G= (p.Ala231=) c.523G= (p.Ala175=) c.1579G= (p.Ala527=) | |
| 17 | g.42543528G>T | CA399604097 | NAGLU | c.1522G>T (p.Ala508Ser) c.860G>T (n.860G>T) c.561G>T c.691G>T (p.Ala231Ser) c.523G>T (p.Ala175Ser) c.1579G>T (p.Ala527Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.42543529C>A | CA399604098 | NAGLU | c.1523C>A (p.Ala508Asp) c.861C>A (n.861C>A) c.562C>A c.692C>A (p.Ala231Asp) c.524C>A (p.Ala175Asp) c.1580C>A (p.Ala527Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.42543529C= | CA2260530331 | NAGLU | c.1523C= (p.Ala508=) c.861C= (n.861C=) c.562C= c.692C= (p.Ala231=) c.524C= (p.Ala175=) c.1580C= (p.Ala527=) | |
| 17 | g.42543529C>G | CA399604099 | NAGLU | c.1523C>G (p.Ala508Gly) c.861C>G (n.861C>G) c.562C>G c.692C>G (p.Ala231Gly) c.524C>G (p.Ala175Gly) c.1580C>G (p.Ala527Gly) | |
| 17 | g.42543529C>T | CA399604100 | NAGLU | c.1523C>T (p.Ala508Val) c.861C>T (n.861C>T) c.562C>T c.692C>T (p.Ala231Val) c.524C>T (p.Ala175Val) c.1580C>T (p.Ala527Val) | |
| 17 | g.42543530C>A | CA500217028 | NAGLU | c.1524C>A (p.Ala508=) c.862C>A (n.862C>A) c.563C>A c.693C>A (p.Ala231=) c.525C>A (p.Ala175=) c.1581C>A (p.Ala527=) | |
| 17 | g.42543530C= | CA2260530332 | NAGLU | c.1524C= (p.Ala508=) c.862C= (n.862C=) c.563C= c.693C= (p.Ala231=) c.525C= (p.Ala175=) c.1581C= (p.Ala527=) | |
| 17 | g.42543530C>G | CA500217026 | NAGLU | c.1524C>G (p.Ala508=) c.862C>G (n.862C>G) c.563C>G c.693C>G (p.Ala231=) c.525C>G (p.Ala175=) c.1581C>G (p.Ala527=) | dbSNP gnomAD v2 |
| 17 | g.42543530C>T | CA500217027 | NAGLU | c.1524C>T (p.Ala508=) c.862C>T (n.862C>T) c.563C>T c.693C>T (p.Ala231=) c.525C>T (p.Ala175=) c.1581C>T (p.Ala527=) | ClinVar gnomAD v4 |
| 17 | g.42543531T>A | CA399604101 | NAGLU | c.1525T>A (p.Cys509Ser) c.863T>A (n.863T>A) c.564T>A c.694T>A (p.Cys232Ser) c.526T>A (p.Cys176Ser) c.1582T>A (p.Cys528Ser) | |
| 17 | g.42543531T>C | CA399604102 | NAGLU | c.1525T>C (p.Cys509Arg) c.863T>C (n.863T>C) c.564T>C c.694T>C (p.Cys232Arg) c.526T>C (p.Cys176Arg) c.1582T>C (p.Cys528Arg) | gnomAD v4 |
| 17 | g.42543531T>G | CA399604103 | NAGLU | c.1525T>G (p.Cys509Gly) c.863T>G (n.863T>G) c.564T>G c.694T>G (p.Cys232Gly) c.526T>G (p.Cys176Gly) c.1582T>G (p.Cys528Gly) | |
| 17 | g.42543532G>A | CA8577045 | NAGLU | c.1526G>A (p.Cys509Tyr) c.864G>A (n.864G>A) c.565G>A c.695G>A (p.Cys232Tyr) c.527G>A (p.Cys176Tyr) c.1583G>A (p.Cys528Tyr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42543532G>C | CA399604105 | NAGLU | c.1526G>C (p.Cys509Ser) c.864G>C (n.864G>C) c.565G>C c.695G>C (p.Cys232Ser) c.527G>C (p.Cys176Ser) c.1583G>C (p.Cys528Ser) | |
| 17 | g.42543532G= | CA2260530333 | NAGLU | c.1526G= (p.Cys509=) c.864G= (n.864G=) c.565G= c.695G= (p.Cys232=) c.527G= (p.Cys176=) c.1583G= (p.Cys528=) | |
| 17 | g.42543532G>T | CA399604104 | NAGLU | c.1526G>T (p.Cys509Phe) c.864G>T (n.864G>T) c.565G>T c.695G>T (p.Cys232Phe) c.527G>T (p.Cys176Phe) c.1583G>T (p.Cys528Phe) | gnomAD v4 |
| 17 | g.42543533C>A | CA399604106 | NAGLU | c.1527C>A (p.Cys509Ter) c.865C>A (n.865C>A) c.566C>A c.696C>A (p.Cys232Ter) c.528C>A (p.Cys176Ter) c.1584C>A (p.Cys528Ter) | |
| 17 | g.42543533C>G | CA399604107 | NAGLU | c.1527C>G (p.Cys509Trp) c.865C>G (n.865C>G) c.566C>G c.696C>G (p.Cys232Trp) c.528C>G (p.Cys176Trp) c.1584C>G (p.Cys528Trp) | gnomAD v4 |
| 17 | g.42543533C>T | CA500217029 | NAGLU | c.1527C>T (p.Cys509=) c.865C>T (n.865C>T) c.566C>T c.696C>T (p.Cys232=) c.528C>T (p.Cys176=) c.1584C>T (p.Cys528=) | |
| 17 | g.42543534A= | CA2260530334 | NAGLU | c.1528A= (p.Arg510=) c.866A= (n.866A=) c.567A= c.697A= (p.Arg233=) c.529A= (p.Arg177=) c.1585A= (p.Arg529=) | |
| 17 | g.42543534A>C | CA500217030 | NAGLU | c.1528A>C (p.Arg510=) c.866A>C (n.866A>C) c.567A>C c.697A>C (p.Arg233=) c.529A>C (p.Arg177=) c.1585A>C (p.Arg529=) | |
| 17 | g.42543534A>G | CA399604108 | NAGLU | c.1528A>G (p.Arg510Gly) c.866A>G (n.866A>G) c.567A>G c.697A>G (p.Arg233Gly) c.529A>G (p.Arg177Gly) c.1585A>G (p.Arg529Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.42543534A>T | CA399604109 | NAGLU | c.1528A>T (p.Arg510Trp) c.866A>T (n.866A>T) c.567A>T c.697A>T (p.Arg233Trp) c.529A>T (p.Arg177Trp) c.1585A>T (p.Arg529Trp) | |
| 17 | g.42543535G>A | CA399604110 | NAGLU | c.1529G>A (p.Arg510Lys) c.867G>A (n.867G>A) c.568G>A c.698G>A (p.Arg233Lys) c.530G>A (p.Arg177Lys) c.1586G>A (p.Arg529Lys) | |
| 17 | g.42543535G>C | CA399604111 | NAGLU | c.1529G>C (p.Arg510Thr) c.867G>C (n.867G>C) c.568G>C c.698G>C (p.Arg233Thr) c.530G>C (p.Arg177Thr) c.1586G>C (p.Arg529Thr) | |
| 17 | g.42543535G>T | CA399604112 | NAGLU | c.1529G>T (p.Arg510Met) c.867G>T (n.867G>T) c.568G>T c.698G>T (p.Arg233Met) c.530G>T (p.Arg177Met) c.1586G>T (p.Arg529Met) | gnomAD v4 |
| 17 | g.42543536G>A | CA500217031 | NAGLU | c.1530G>A (p.Arg510=) c.868G>A (n.868G>A) c.569G>A c.699G>A (p.Arg233=) c.531G>A (p.Arg177=) c.1587G>A (p.Arg529=) | |
| 17 | g.42543536G>C | CA399604113 | NAGLU | c.1530G>C (p.Arg510Ser) c.868G>C (n.868G>C) c.569G>C c.699G>C (p.Arg233Ser) c.531G>C (p.Arg177Ser) c.1587G>C (p.Arg529Ser) | |
| 17 | g.42543536G>T | CA399604114 | NAGLU | c.1530G>T (p.Arg510Ser) c.868G>T (n.868G>T) c.569G>T c.699G>T (p.Arg233Ser) c.531G>T (p.Arg177Ser) c.1587G>T (p.Arg529Ser) | |
| 17 | g.42543537G>A | CA399604115 | NAGLU | c.1531G>A (p.Gly511Ser) c.869G>A (n.869G>A) c.570G>A c.700G>A (p.Gly234Ser) c.532G>A (p.Gly178Ser) c.1588G>A (p.Gly530Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.42543537G>C | CA399604116 | NAGLU | c.1531G>C (p.Gly511Arg) c.869G>C (n.869G>C) c.570G>C c.700G>C (p.Gly234Arg) c.532G>C (p.Gly178Arg) c.1588G>C (p.Gly530Arg) | |
| 17 | g.42543537G= | CA2260530335 | NAGLU | c.1531G= (p.Gly511=) c.869G= (n.869G=) c.570G= c.700G= (p.Gly234=) c.532G= (p.Gly178=) c.1588G= (p.Gly530=) | |
| 17 | g.42543537G>T | CA290780734 | NAGLU | c.1531G>T (p.Gly511Cys) c.869G>T (n.869G>T) c.570G>T c.700G>T (p.Gly234Cys) c.532G>T (p.Gly178Cys) c.1588G>T (p.Gly530Cys) | dbSNP gnomAD v4 |
| 17 | g.42543538G>A | CA399604117 | NAGLU | c.1532G>A (p.Gly511Asp) c.870G>A (n.870G>A) c.571G>A c.701G>A (p.Gly234Asp) c.533G>A (p.Gly178Asp) c.1589G>A (p.Gly530Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.42543538G>C | CA399604118 | NAGLU | c.1532G>C (p.Gly511Ala) c.870G>C (n.870G>C) c.571G>C c.701G>C (p.Gly234Ala) c.533G>C (p.Gly178Ala) c.1589G>C (p.Gly530Ala) | |
| 17 | g.42543538G= | CA2260530336 | NAGLU | c.1532G= (p.Gly511=) c.870G= (n.870G=) c.571G= c.701G= (p.Gly234=) c.533G= (p.Gly178=) c.1589G= (p.Gly530=) | |
| 17 | g.42543538G>T | CA399604119 | NAGLU | c.1532G>T (p.Gly511Val) c.870G>T (n.870G>T) c.571G>T c.701G>T (p.Gly234Val) c.533G>T (p.Gly178Val) c.1589G>T (p.Gly530Val) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.42543539C>A | CA500217033 | NAGLU | c.1533C>A (p.Gly511=) c.871C>A (n.871C>A) c.572C>A c.702C>A (p.Gly234=) c.534C>A (p.Gly178=) c.1590C>A (p.Gly530=) | |
| 17 | g.42543539C= | CA2260530337 | NAGLU | c.1533C= (p.Gly511=) c.871C= (n.871C=) c.572C= c.702C= (p.Gly234=) c.534C= (p.Gly178=) c.1590C= (p.Gly530=) | |
| 17 | g.42543539C>G | CA500217032 | NAGLU | c.1533C>G (p.Gly511=) c.871C>G (n.871C>G) c.572C>G c.702C>G (p.Gly234=) c.534C>G (p.Gly178=) c.1590C>G (p.Gly530=) | |
| 17 | g.42543539C>T | CA8577046 | NAGLU | c.1533C>T (p.Gly511=) c.871C>T (n.871C>T) c.572C>T c.702C>T (p.Gly234=) c.534C>T (p.Gly178=) c.1590C>T (p.Gly530=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.42543540C>A | CA399604122 | NAGLU | c.1534C>A (p.His512Asn) c.872C>A (n.872C>A) c.573C>A c.703C>A (p.His235Asn) c.535C>A (p.His179Asn) c.1591C>A (p.His531Asn) | |
| 17 | g.42543540C>G | CA399604120 | NAGLU | c.1534C>G (p.His512Asp) c.872C>G (n.872C>G) c.573C>G c.703C>G (p.His235Asp) c.535C>G (p.His179Asp) c.1591C>G (p.His531Asp) | |
| 17 | g.42543540C>T | CA399604121 | NAGLU | c.1534C>T (p.His512Tyr) c.872C>T (n.872C>T) c.573C>T c.703C>T (p.His235Tyr) c.535C>T (p.His179Tyr) c.1591C>T (p.His531Tyr) | |
| 17 | g.42543541A>C | CA399604123 | NAGLU | c.1535A>C (p.His512Pro) c.873A>C (n.873A>C) c.574A>C c.704A>C (p.His235Pro) c.536A>C (p.His179Pro) c.1592A>C (p.His531Pro) | |
| 17 | g.42543541A>G | CA399604124 | NAGLU | c.1535A>G (p.His512Arg) c.873A>G (n.873A>G) c.574A>G c.704A>G (p.His235Arg) c.536A>G (p.His179Arg) c.1592A>G (p.His531Arg) | |
| 17 | g.42543541A>T | CA399604125 | NAGLU | c.1535A>T (p.His512Leu) c.873A>T (n.873A>T) c.574A>T c.704A>T (p.His235Leu) c.536A>T (p.His179Leu) c.1592A>T (p.His531Leu) | |
| 17 | g.42543542del | CA2637971318 | NAGLU | c.1536del (p.His512GlnfsTer14) c.874del (n.874del) c.575del c.705del (p.His235GlnfsTer14) c.537del (p.His179GlnfsTer14) c.1593del (p.His531GlnfsTer14) | gnomAD v4 |
| 17 | g.42543542C>A | CA399604126 | NAGLU | c.1536C>A (p.His512Gln) c.874C>A (n.874C>A) c.575C>A c.705C>A (p.His235Gln) c.537C>A (p.His179Gln) c.1593C>A (p.His531Gln) | |
| 17 | g.42543542C= | CA2260530338 | NAGLU | c.1536C= (p.His512=) c.874C= (n.874C=) c.575C= c.705C= (p.His235=) c.537C= (p.His179=) c.1593C= (p.His531=) | |
| 17 | g.42543542C>G | CA399604127 | NAGLU | c.1536C>G (p.His512Gln) c.874C>G (n.874C>G) c.575C>G c.705C>G (p.His235Gln) c.537C>G (p.His179Gln) c.1593C>G (p.His531Gln) | |
| 17 | g.42543542C>T | CA500217034 | NAGLU | c.1536C>T (p.His512=) c.874C>T (n.874C>T) c.575C>T c.705C>T (p.His235=) c.537C>T (p.His179=) c.1593C>T (p.His531=) | dbSNP |
| 17 | g.42543543A>C | CA399604128 | NAGLU | c.1537A>C (p.Asn513His) c.875A>C (n.875A>C) c.576A>C c.706A>C (p.Asn236His) c.538A>C (p.Asn180His) c.1594A>C (p.Asn532His) | |
| 17 | g.42543543A>G | CA399604129 | NAGLU | c.1537A>G (p.Asn513Asp) c.875A>G (n.875A>G) c.576A>G c.706A>G (p.Asn236Asp) c.538A>G (p.Asn180Asp) c.1594A>G (p.Asn532Asp) | gnomAD v4 |
| 17 | g.42543543A>T | CA399604130 | NAGLU | c.1537A>T (p.Asn513Tyr) c.875A>T (n.875A>T) c.576A>T c.706A>T (p.Asn236Tyr) c.538A>T (p.Asn180Tyr) c.1594A>T (p.Asn532Tyr) | |
| 17 | g.42543544A= | CA2260530339 | NAGLU | c.1538A= (p.Asn513=) c.876A= (n.876A=) c.577A= c.707A= (p.Asn236=) c.539A= (p.Asn180=) c.1595A= (p.Asn532=) | |
| 17 | g.42543544A>C | CA399604131 | NAGLU | c.1538A>C (p.Asn513Thr) c.876A>C (n.876A>C) c.577A>C c.707A>C (p.Asn236Thr) c.539A>C (p.Asn180Thr) c.1595A>C (p.Asn532Thr) | |
| 17 | g.42543544A>G | CA8577047 | NAGLU | c.1538A>G (p.Asn513Ser) c.876A>G (n.876A>G) c.577A>G c.707A>G (p.Asn236Ser) c.539A>G (p.Asn180Ser) c.1595A>G (p.Asn532Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42543544A>T | CA399604132 | NAGLU | c.1538A>T (p.Asn513Ile) c.876A>T (n.876A>T) c.577A>T c.707A>T (p.Asn236Ile) c.539A>T (p.Asn180Ile) c.1595A>T (p.Asn532Ile) | gnomAD v4 |
| 17 | g.42543545T>A | CA399604134 | NAGLU | c.1539T>A (p.Asn513Lys) c.877T>A (n.877T>A) c.578T>A c.708T>A (p.Asn236Lys) c.540T>A (p.Asn180Lys) c.1596T>A (p.Asn532Lys) | |
| 17 | g.42543545T>C | CA500217035 | NAGLU | c.1539T>C (p.Asn513=) c.877T>C (n.877T>C) c.578T>C c.708T>C (p.Asn236=) c.540T>C (p.Asn180=) c.1596T>C (p.Asn532=) | ClinVar dbSNP |
| 17 | g.42543545T>G | CA399604133 | NAGLU | c.1539T>G (p.Asn513Lys) c.877T>G (n.877T>G) c.578T>G c.708T>G (p.Asn236Lys) c.540T>G (p.Asn180Lys) c.1596T>G (p.Asn532Lys) | |
| 17 | g.42543546C>A | CA399604135 | NAGLU | c.1540C>A (p.Arg514Ser) c.878C>A (n.878C>A) c.579C>A c.709C>A (p.Arg237Ser) c.541C>A (p.Arg181Ser) c.1597C>A (p.Arg533Ser) | gnomAD v4 |
| 17 | g.42543546C= | CA2260530340 | NAGLU | c.1540C= (p.Arg514=) c.878C= (n.878C=) c.579C= c.709C= (p.Arg237=) c.541C= (p.Arg181=) c.1597C= (p.Arg533=) | |
| 17 | g.42543546C>G | CA399604136 | NAGLU | c.1540C>G (p.Arg514Gly) c.878C>G (n.878C>G) c.579C>G c.709C>G (p.Arg237Gly) c.541C>G (p.Arg181Gly) c.1597C>G (p.Arg533Gly) | ClinVar |
| 17 | g.42543546C>T | CA8577048 | NAGLU | c.1540C>T (p.Arg514Cys) c.878C>T (n.878C>T) c.579C>T c.709C>T (p.Arg237Cys) c.541C>T (p.Arg181Cys) c.1597C>T (p.Arg533Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.42543547G>A | CA8577049 | NAGLU | c.1541G>A (p.Arg514His) c.879G>A (n.879G>A) c.580G>A c.710G>A (p.Arg237His) c.542G>A (p.Arg181His) c.1598G>A (p.Arg533His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42543547G>C | CA399604137 | NAGLU | c.1541G>C (p.Arg514Pro) c.879G>C (n.879G>C) c.580G>C c.710G>C (p.Arg237Pro) c.542G>C (p.Arg181Pro) c.1598G>C (p.Arg533Pro) | |
| 17 | g.42543547G= | CA2260530341 | NAGLU | c.1541G= (p.Arg514=) c.879G= (n.879G=) c.580G= c.710G= (p.Arg237=) c.542G= (p.Arg181=) c.1598G= (p.Arg533=) | |
| 17 | g.42543547G>T | CA399604138 | NAGLU | c.1541G>T (p.Arg514Leu) c.879G>T (n.879G>T) c.580G>T c.710G>T (p.Arg237Leu) c.542G>T (p.Arg181Leu) c.1598G>T (p.Arg533Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.42543548T>A | CA500217036 | NAGLU | c.1542T>A (p.Arg514=) c.880T>A (n.880T>A) c.581T>A c.711T>A (p.Arg237=) c.543T>A (p.Arg181=) c.1599T>A (p.Arg533=) | |
| 17 | g.42543548T>C | CA500217037 | NAGLU | c.1542T>C (p.Arg514=) c.880T>C (n.880T>C) c.581T>C c.711T>C (p.Arg237=) c.543T>C (p.Arg181=) c.1599T>C (p.Arg533=) | ClinVar dbSNP |
| 17 | g.42543548T>G | CA500217038 | NAGLU | c.1542T>G (p.Arg514=) c.880T>G (n.880T>G) c.581T>G c.711T>G (p.Arg237=) c.543T>G (p.Arg181=) c.1599T>G (p.Arg533=) | |
| 17 | g.42543549A>C | CA399604141 | NAGLU | c.1543A>C (p.Ser515Arg) c.881A>C (n.881A>C) c.582A>C c.712A>C (p.Ser238Arg) c.544A>C (p.Ser182Arg) c.1600A>C (p.Ser534Arg) | |
| 17 | g.42543549A>G | CA399604139 | NAGLU | c.1543A>G (p.Ser515Gly) c.881A>G (n.881A>G) c.582A>G c.712A>G (p.Ser238Gly) c.544A>G (p.Ser182Gly) c.1600A>G (p.Ser534Gly) | ClinVar |
| 17 | g.42543549A>T | CA399604140 | NAGLU | c.1543A>T (p.Ser515Cys) c.881A>T (n.881A>T) c.582A>T c.712A>T (p.Ser238Cys) c.544A>T (p.Ser182Cys) c.1600A>T (p.Ser534Cys) | |
| 17 | g.42543550G>A | CA399604142 | NAGLU | c.1544G>A (p.Ser515Asn) c.882G>A (n.882G>A) c.713G>A (p.Ser238Asn) c.545G>A (p.Ser182Asn) c.1601G>A (p.Ser534Asn) | |
| 17 | g.42543550G>C | CA399604143 | NAGLU | c.1544G>C (p.Ser515Thr) c.882G>C (n.882G>C) c.713G>C (p.Ser238Thr) c.545G>C (p.Ser182Thr) c.1601G>C (p.Ser534Thr) | |
| 17 | g.42543550G>T | CA399604144 | NAGLU | c.1544G>T (p.Ser515Ile) c.882G>T (n.882G>T) c.713G>T (p.Ser238Ile) c.545G>T (p.Ser182Ile) c.1601G>T (p.Ser534Ile) | gnomAD v4 |
| 17 | g.42543550dup | CA2637971319 | NAGLU | c.1544dup (p.Ser515ArgfsTer21) c.882dup (n.882dup) c.713dup (p.Ser238ArgfsTer21) c.545dup (p.Ser182ArgfsTer21) c.1601dup (p.Ser534ArgfsTer21) | gnomAD v4 |
| 17 | g.42543551C>A | CA399604145 | NAGLU | c.1545C>A (p.Ser515Arg) c.883C>A (n.883C>A) c.714C>A (p.Ser238Arg) c.546C>A (p.Ser182Arg) c.1602C>A (p.Ser534Arg) | |
| 17 | g.42543551C= | CA2260530342 | NAGLU | c.1545C= (p.Ser515=) c.883C= (n.883C=) c.714C= (p.Ser238=) c.546C= (p.Ser182=) c.1602C= (p.Ser534=) | |
| 17 | g.42543551C>G | CA399604146 | NAGLU | c.1545C>G (p.Ser515Arg) c.883C>G (n.883C>G) c.714C>G (p.Ser238Arg) c.546C>G (p.Ser182Arg) c.1602C>G (p.Ser534Arg) | |
| 17 | g.42543551C>T | CA500217039 | NAGLU | c.1545C>T (p.Ser515=) c.883C>T (n.883C>T) c.714C>T (p.Ser238=) c.546C>T (p.Ser182=) c.1602C>T (p.Ser534=) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.42543552C>A | CA399604147 | NAGLU | c.1546C>A (p.Pro516Thr) c.884C>A (n.884C>A) c.715C>A (p.Pro239Thr) c.547C>A (p.Pro183Thr) c.1603C>A (p.Pro535Thr) | |
| 17 | g.42543552C= | CA2260530343 | NAGLU | c.1546C= (p.Pro516=) c.884C= (n.884C=) c.715C= (p.Pro239=) c.547C= (p.Pro183=) c.1603C= (p.Pro535=) | |
| 17 | g.42543552C>G | CA399604149 | NAGLU | c.1546C>G (p.Pro516Ala) c.884C>G (n.884C>G) c.715C>G (p.Pro239Ala) c.547C>G (p.Pro183Ala) c.1603C>G (p.Pro535Ala) | |
| 17 | g.42543552C>T | CA399604148 | NAGLU | c.1546C>T (p.Pro516Ser) c.884C>T (n.884C>T) c.715C>T (p.Pro239Ser) c.547C>T (p.Pro183Ser) c.1603C>T (p.Pro535Ser) | ClinVar dbSNP gnomAD v4 |
| 17 | g.42543553C>A | CA399604150 | NAGLU | c.1547C>A (p.Pro516Gln) c.885C>A (n.885C>A) c.716C>A (p.Pro239Gln) c.548C>A (p.Pro183Gln) c.1604C>A (p.Pro535Gln) | gnomAD v4 |
| 17 | g.42543553C= | CA2260530344 | NAGLU | c.1547C= (p.Pro516=) c.885C= (n.885C=) c.716C= (p.Pro239=) c.548C= (p.Pro183=) c.1604C= (p.Pro535=) | |
| 17 | g.42543553C>G | CA399604151 | NAGLU | c.1547C>G (p.Pro516Arg) c.885C>G (n.885C>G) c.716C>G (p.Pro239Arg) c.548C>G (p.Pro183Arg) c.1604C>G (p.Pro535Arg) | |
| 17 | g.42543553C>T | CA8577050 | NAGLU | c.1547C>T (p.Pro516Leu) c.885C>T (n.885C>T) c.716C>T (p.Pro239Leu) c.548C>T (p.Pro183Leu) c.1604C>T (p.Pro535Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.42543554G>A | CA500217041 | NAGLU | c.1548G>A (p.Pro516=) c.886G>A (n.886G>A) c.717G>A (p.Pro239=) c.549G>A (p.Pro183=) c.1605G>A (p.Pro535=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.42543554G>C | CA500217042 | NAGLU | c.1548G>C (p.Pro516=) c.886G>C (n.886G>C) c.717G>C (p.Pro239=) c.549G>C (p.Pro183=) c.1605G>C (p.Pro535=) | |
| 17 | g.42543554G= | CA2260530345 | NAGLU | c.1548G= (p.Pro516=) c.886G= (n.886G=) c.717G= (p.Pro239=) c.549G= (p.Pro183=) c.1605G= (p.Pro535=) | |
| 17 | g.42543554G>T | CA500217040 | NAGLU | c.1548G>T (p.Pro516=) c.886G>T (n.886G>T) c.717G>T (p.Pro239=) c.549G>T (p.Pro183=) c.1605G>T (p.Pro535=) | gnomAD v4 |
| 17 | g.42543555C>A | CA399604152 | NAGLU | c.1549C>A (p.Leu517Met) c.887C>A (n.887C>A) c.718C>A (p.Leu240Met) c.550C>A (p.Leu184Met) c.1606C>A (p.Leu536Met) | |
| 17 | g.42543555C>G | CA399604153 | NAGLU | c.1549C>G (p.Leu517Val) c.887C>G (n.887C>G) c.718C>G (p.Leu240Val) c.550C>G (p.Leu184Val) c.1606C>G (p.Leu536Val) | |
| 17 | g.42543555C>T | CA500217043 | NAGLU | c.1549C>T (p.Leu517=) c.887C>T (n.887C>T) c.718C>T (p.Leu240=) c.550C>T (p.Leu184=) c.1606C>T (p.Leu536=) | ClinVar |
| 17 | g.42543556T>A | CA399604154 | NAGLU | c.1550T>A (p.Leu517Gln) c.888T>A (n.888T>A) c.719T>A (p.Leu240Gln) c.551T>A (p.Leu184Gln) c.1607T>A (p.Leu536Gln) | |
| 17 | g.42543556T>C | CA399604155 | NAGLU | c.1550T>C (p.Leu517Pro) c.888T>C (n.888T>C) c.719T>C (p.Leu240Pro) c.551T>C (p.Leu184Pro) c.1607T>C (p.Leu536Pro) | |
| 17 | g.42543556T>G | CA399604156 | NAGLU | c.1550T>G (p.Leu517Arg) c.888T>G (n.888T>G) c.719T>G (p.Leu240Arg) c.551T>G (p.Leu184Arg) c.1607T>G (p.Leu536Arg) | |
| 17 | g.42543556_42543557delinsTG | CA2260530346 | NAGLU | c.1550_1551delinsTG (p.Leu517=) c.888_889delinsTG (n.888_889delinsTG) c.719_720delinsTG (p.Leu240=) c.551_552delinsTG (p.Leu184=) c.1607_1608delinsTG (p.Leu536=) | |
| 17 | g.42543557G>A | CA500217044 | NAGLU | c.1551G>A (p.Leu517=) c.889G>A (n.889G>A) c.720G>A (p.Leu240=) c.552G>A (p.Leu184=) c.1608G>A (p.Leu536=) | gnomAD v4 |
| 17 | g.42543557G>C | CA500217045 | NAGLU | c.1551G>C (p.Leu517=) c.889G>C (n.889G>C) c.720G>C (p.Leu240=) c.552G>C (p.Leu184=) c.1608G>C (p.Leu536=) | |
| 17 | g.42543557G>T | CA500217046 | NAGLU | c.1551G>T (p.Leu517=) c.889G>T (n.889G>T) c.720G>T (p.Leu240=) c.552G>T (p.Leu184=) c.1608G>T (p.Leu536=) | |
| 17 | g.42543558del | CA1139665542 | NAGLU | c.1552del (p.Val518SerfsTer8) c.890del (n.890del) c.721del (p.Val241SerfsTer8) c.553del (p.Val185SerfsTer8) c.1609del (p.Val537SerfsTer8) | ClinVar dbSNP |
| 17 | g.42543558G>A | CA399604157 | NAGLU | c.1552G>A (p.Val518Ile) c.890G>A (n.890G>A) c.721G>A (p.Val241Ile) c.553G>A (p.Val185Ile) c.1609G>A (p.Val537Ile) | |
| 17 | g.42543558G>C | CA399604158 | NAGLU | c.1552G>C (p.Val518Leu) c.890G>C (n.890G>C) c.721G>C (p.Val241Leu) c.553G>C (p.Val185Leu) c.1609G>C (p.Val537Leu) | |
| 17 | g.42543558G>T | CA399604159 | NAGLU | c.1552G>T (p.Val518Phe) c.890G>T (n.890G>T) c.721G>T (p.Val241Phe) c.553G>T (p.Val185Phe) c.1609G>T (p.Val537Phe) | gnomAD v4 |
| 17 | g.42543559T>A | CA399604161 | NAGLU | c.1553T>A (p.Val518Asp) c.891T>A (n.891T>A) c.722T>A (p.Val241Asp) c.554T>A (p.Val185Asp) c.1610T>A (p.Val537Asp) | |
| 17 | g.42543559T>C | CA399604162 | NAGLU | c.1553T>C (p.Val518Ala) c.891T>C (n.891T>C) c.722T>C (p.Val241Ala) c.554T>C (p.Val185Ala) c.1610T>C (p.Val537Ala) | |
| 17 | g.42543559T>G | CA399604160 | NAGLU | c.1553T>G (p.Val518Gly) c.891T>G (n.891T>G) c.722T>G (p.Val241Gly) c.554T>G (p.Val185Gly) c.1610T>G (p.Val537Gly) | |
| 17 | g.42543560C>A | CA500217047 | NAGLU | c.1554C>A (p.Val518=) c.892C>A (n.892C>A) c.723C>A (p.Val241=) c.555C>A (p.Val185=) c.1611C>A (p.Val537=) | gnomAD v4 |
| 17 | g.42543560C>G | CA500217049 | NAGLU | c.1554C>G (p.Val518=) c.892C>G (n.892C>G) c.723C>G (p.Val241=) c.555C>G (p.Val185=) c.1611C>G (p.Val537=) | |
| 17 | g.42543560C>T | CA500217048 | NAGLU | c.1554C>T (p.Val518=) c.892C>T (n.892C>T) c.723C>T (p.Val241=) c.555C>T (p.Val185=) c.1611C>T (p.Val537=) | |
| 17 | g.42543561A>C | CA500217050 | NAGLU | c.1555A>C (p.Arg519=) c.893A>C (n.893A>C) c.724A>C (p.Arg242=) c.556A>C (p.Arg186=) c.1612A>C (p.Arg538=) | |
| 17 | g.42543561A>G | CA399604164 | NAGLU | c.1555A>G (p.Arg519Gly) c.893A>G (n.893A>G) c.724A>G (p.Arg242Gly) c.556A>G (p.Arg186Gly) c.1612A>G (p.Arg538Gly) | |
| 17 | g.42543561A>T | CA399604163 | NAGLU | c.1555A>T (p.Arg519Trp) c.893A>T (n.893A>T) c.724A>T (p.Arg242Trp) c.556A>T (p.Arg186Trp) c.1612A>T (p.Arg538Trp) | |
| 17 | g.42543562G>A | CA399604165 | NAGLU | c.1556G>A (p.Arg519Lys) c.894G>A (n.894G>A) c.725G>A (p.Arg242Lys) c.557G>A (p.Arg186Lys) c.1613G>A (p.Arg538Lys) | ClinVar |
| 17 | g.42543562G>C | CA399604166 | NAGLU | c.1556G>C (p.Arg519Thr) c.894G>C (n.894G>C) c.725G>C (p.Arg242Thr) c.557G>C (p.Arg186Thr) c.1613G>C (p.Arg538Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.42543562G= | CA2260530347 | NAGLU | c.1556G= (p.Arg519=) c.894G= (n.894G=) c.725G= (p.Arg242=) c.557G= (p.Arg186=) c.1613G= (p.Arg538=) | |
| 17 | g.42543562G>T | CA399604167 | NAGLU | c.1556G>T (p.Arg519Met) c.894G>T (n.894G>T) c.725G>T (p.Arg242Met) c.557G>T (p.Arg186Met) c.1613G>T (p.Arg538Met) | |
| 17 | g.42543565_42543567dup | CA2637971323 | NAGLU | c.1559_1561dup (p.Arg520_Pro521insArg) c.897_899dup (n.897_899dup) c.728_730dup (p.Arg243_Pro244insArg) c.560_562dup (p.Arg187_Pro188insArg) c.1616_1618dup (p.Arg539_Pro540insArg) | gnomAD v4 |
| 17 | g.42543563G>A | CA8577051 | NAGLU | c.1557G>A (p.Arg519=) c.895G>A (n.895G>A) c.726G>A (p.Arg242=) c.558G>A (p.Arg186=) c.1614G>A (p.Arg538=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42543563G>C | CA399604168 | NAGLU | c.1557G>C (p.Arg519Ser) c.895G>C (n.895G>C) c.726G>C (p.Arg242Ser) c.558G>C (p.Arg186Ser) c.1614G>C (p.Arg538Ser) | |
| 17 | g.42543563G= | CA2260530348 | NAGLU | c.1557G= (p.Arg519=) c.895G= (n.895G=) c.726G= (p.Arg242=) c.558G= (p.Arg186=) c.1614G= (p.Arg538=) | |
| 17 | g.42543563G>T | CA399604169 | NAGLU | c.1557G>T (p.Arg519Ser) c.895G>T (n.895G>T) c.726G>T (p.Arg242Ser) c.558G>T (p.Arg186Ser) c.1614G>T (p.Arg538Ser) | gnomAD v4 |
| 17 | g.42543564C>A | CA500217051 | NAGLU | c.1558C>A (p.Arg520=) c.896C>A (n.896C>A) c.727C>A (p.Arg243=) c.559C>A (p.Arg187=) c.1615C>A (p.Arg539=) | gnomAD v4 |
| 17 | g.42543564C= | CA2260530349 | NAGLU | c.1558C= (p.Arg520=) c.896C= (n.896C=) c.727C= (p.Arg243=) c.559C= (p.Arg187=) c.1615C= (p.Arg539=) | |
| 17 | g.42543564C>G | CA399604170 | NAGLU | c.1558C>G (p.Arg520Gly) c.896C>G (n.896C>G) c.727C>G (p.Arg243Gly) c.559C>G (p.Arg187Gly) c.1615C>G (p.Arg539Gly) | |
| 17 | g.42543564C>T | CA290780757 | NAGLU | c.1558C>T (p.Arg520Trp) c.896C>T (n.896C>T) c.727C>T (p.Arg243Trp) c.559C>T (p.Arg187Trp) c.1615C>T (p.Arg539Trp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42543565G>A | CA399604171 | NAGLU | c.1559G>A (p.Arg520Gln) c.897G>A (n.897G>A) c.728G>A (p.Arg243Gln) c.560G>A (p.Arg187Gln) c.1616G>A (p.Arg539Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.42543565G>C | CA399604172 | NAGLU | c.1559G>C (p.Arg520Pro) c.897G>C (n.897G>C) c.728G>C (p.Arg243Pro) c.560G>C (p.Arg187Pro) c.1616G>C (p.Arg539Pro) | |
| 17 | g.42543565G= | CA2260530350 | NAGLU | c.1559G= (p.Arg520=) c.897G= (n.897G=) c.728G= (p.Arg243=) c.560G= (p.Arg187=) c.1616G= (p.Arg539=) | |
| 17 | g.42543565G>T | CA399604173 | NAGLU | c.1559G>T (p.Arg520Leu) c.897G>T (n.897G>T) c.728G>T (p.Arg243Leu) c.560G>T (p.Arg187Leu) c.1616G>T (p.Arg539Leu) | gnomAD v4 |
| 17 | g.42543566G>A | CA8577052 | NAGLU | c.1560G>A (p.Arg520=) c.898G>A (n.898G>A) c.729G>A (p.Arg243=) c.561G>A (p.Arg187=) c.1617G>A (p.Arg539=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.42543566G>C | CA500217053 | NAGLU | c.1560G>C (p.Arg520=) c.898G>C (n.898G>C) c.729G>C (p.Arg243=) c.561G>C (p.Arg187=) c.1617G>C (p.Arg539=) | |
| 17 | g.42543566G= | CA2260530351 | NAGLU | c.1560G= (p.Arg520=) c.898G= (n.898G=) c.729G= (p.Arg243=) c.561G= (p.Arg187=) c.1617G= (p.Arg539=) | |
| 17 | g.42543566G>T | CA500217052 | NAGLU | c.1560G>T (p.Arg520=) c.898G>T (n.898G>T) c.729G>T (p.Arg243=) c.561G>T (p.Arg187=) c.1617G>T (p.Arg539=) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.42543566_42543567delinsTT | CA2695225865 | NAGLU | c.1560_1561delinsTT (p.Pro521Ser) c.898_899delinsTT (n.898_899delinsTT) c.729_730delinsTT (p.Pro244Ser) c.561_562delinsTT (p.Pro188Ser) c.1617_1618delinsTT (p.Pro540Ser) | |
| 17 | g.42543567C>A | CA399604176 | NAGLU | c.1561C>A (p.Pro521Thr) c.899C>A (n.899C>A) c.730C>A (p.Pro244Thr) c.562C>A (p.Pro188Thr) c.1618C>A (p.Pro540Thr) | |
| 17 | g.42543567C= | CA2260530352 | NAGLU | c.1561C= (p.Pro521=) c.899C= (n.899C=) c.730C= (p.Pro244=) c.562C= (p.Pro188=) c.1618C= (p.Pro540=) | |
| 17 | g.42543567C>G | CA399604174 | NAGLU | c.1561C>G (p.Pro521Ala) c.899C>G (n.899C>G) c.730C>G (p.Pro244Ala) c.562C>G (p.Pro188Ala) c.1618C>G (p.Pro540Ala) | |
| 17 | g.42543567C>T | CA399604175 | NAGLU | c.1561C>T (p.Pro521Ser) c.899C>T (n.899C>T) c.730C>T (p.Pro244Ser) c.562C>T (p.Pro188Ser) c.1618C>T (p.Pro540Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.42543568C>A | CA399604177 | NAGLU | c.1562C>A (p.Pro521Gln) c.900C>A (n.900C>A) c.731C>A (p.Pro244Gln) c.563C>A (p.Pro188Gln) c.1619C>A (p.Pro540Gln) | |
| 17 | g.42543568C= | CA2260530353 | NAGLU | c.1562C= (p.Pro521=) c.900C= (n.900C=) c.731C= (p.Pro244=) c.563C= (p.Pro188=) c.1619C= (p.Pro540=) | |
| 17 | g.42543568C>G | CA399604178 | NAGLU | c.1562C>G (p.Pro521Arg) c.900C>G (n.900C>G) c.731C>G (p.Pro244Arg) c.563C>G (p.Pro188Arg) c.1619C>G (p.Pro540Arg) | |
| 17 | g.42543568C>T | CA115049 | NAGLU | c.1562C>T (p.Pro521Leu) c.900C>T (n.900C>T) c.731C>T (p.Pro244Leu) c.563C>T (p.Pro188Leu) c.1619C>T (p.Pro540Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42543569G>A | CA8577053 | NAGLU | c.1563G>A (p.Pro521=) c.901G>A (n.901G>A) c.732G>A (p.Pro244=) c.564G>A (p.Pro188=) c.1620G>A (p.Pro540=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42543569G>C | CA500217054 | NAGLU | c.1563G>C (p.Pro521=) c.901G>C (n.901G>C) c.732G>C (p.Pro244=) c.564G>C (p.Pro188=) c.1620G>C (p.Pro540=) | |
| 17 | g.42543569G= | CA2260530354 | NAGLU | c.1563G= (p.Pro521=) c.901G= (n.901G=) c.732G= (p.Pro244=) c.564G= (p.Pro188=) c.1620G= (p.Pro540=) | |
| 17 | g.42543569G>T | CA500217055 | NAGLU | c.1563G>T (p.Pro521=) c.901G>T (n.901G>T) c.732G>T (p.Pro244=) c.564G>T (p.Pro188=) c.1620G>T (p.Pro540=) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.42543570T>A | CA399604179 | NAGLU | c.1564T>A (p.Ser522Thr) c.902T>A (n.902T>A) c.733T>A (p.Ser245Thr) c.565T>A (p.Ser189Thr) c.1621T>A (p.Ser541Thr) | |
| 17 | g.42543570T>C | CA399604180 | NAGLU | c.1564T>C (p.Ser522Pro) c.902T>C (n.902T>C) c.733T>C (p.Ser245Pro) c.565T>C (p.Ser189Pro) c.1621T>C (p.Ser541Pro) | |
| 17 | g.42543570T>G | CA399604181 | NAGLU | c.1564T>G (p.Ser522Ala) c.902T>G (n.902T>G) c.733T>G (p.Ser245Ala) c.565T>G (p.Ser189Ala) c.1621T>G (p.Ser541Ala) | |
| 17 | g.42543571C>A | CA399604182 | NAGLU | c.1565C>A (p.Ser522Tyr) c.903C>A (n.903C>A) c.734C>A (p.Ser245Tyr) c.566C>A (p.Ser189Tyr) c.1622C>A (p.Ser541Tyr) | |
| 17 | g.42543571C= | CA2260530355 | NAGLU | c.1565C= (p.Ser522=) c.903C= (n.903C=) c.734C= (p.Ser245=) c.566C= (p.Ser189=) c.1622C= (p.Ser541=) | |
| 17 | g.42543571C>G | CA399604183 | NAGLU | c.1565C>G (p.Ser522Cys) c.903C>G (n.903C>G) c.734C>G (p.Ser245Cys) c.566C>G (p.Ser189Cys) c.1622C>G (p.Ser541Cys) | |
| 17 | g.42543571C>T | CA8577054 | NAGLU | c.1565C>T (p.Ser522Phe) c.903C>T (n.903C>T) c.734C>T (p.Ser245Phe) c.566C>T (p.Ser189Phe) c.1622C>T (p.Ser541Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42543572C>A | CA500217056 | NAGLU | c.1566C>A (p.Ser522=) c.904C>A (n.904C>A) c.735C>A (p.Ser245=) c.567C>A (p.Ser189=) c.1623C>A (p.Ser541=) | ClinVar |
| 17 | g.42543572C>G | CA500217058 | NAGLU | c.1566C>G (p.Ser522=) c.904C>G (n.904C>G) c.735C>G (p.Ser245=) c.567C>G (p.Ser189=) c.1623C>G (p.Ser541=) | gnomAD v4 |
| 17 | g.42543572C>T | CA500217057 | NAGLU | c.1566C>T (p.Ser522=) c.904C>T (n.904C>T) c.735C>T (p.Ser245=) c.567C>T (p.Ser189=) c.1623C>T (p.Ser541=) | gnomAD v4 |
| 17 | g.42543573C>A | CA399604184 | NAGLU | c.1567C>A (p.Leu523Ile) c.905C>A (n.905C>A) c.736C>A (p.Leu246Ile) c.568C>A (p.Leu190Ile) c.1624C>A (p.Leu542Ile) | |
| 17 | g.42543573C>G | CA399604185 | NAGLU | c.1567C>G (p.Leu523Val) c.905C>G (n.905C>G) c.736C>G (p.Leu246Val) c.568C>G (p.Leu190Val) c.1624C>G (p.Leu542Val) | |
| 17 | g.42543573C>T | CA500217059 | NAGLU | c.1567C>T (p.Leu523=) c.905C>T (n.905C>T) c.736C>T (p.Leu246=) c.568C>T (p.Leu190=) c.1624C>T (p.Leu542=) | gnomAD v4 |
| 17 | g.42543574T>A | CA399604188 | NAGLU | c.1568T>A (p.Leu523Gln) c.906T>A (n.906T>A) c.737T>A (p.Leu246Gln) c.569T>A (p.Leu190Gln) c.1625T>A (p.Leu542Gln) | |
| 17 | g.42543574T>C | CA399604187 | NAGLU | c.1568T>C (p.Leu523Pro) c.906T>C (n.906T>C) c.737T>C (p.Leu246Pro) c.569T>C (p.Leu190Pro) c.1625T>C (p.Leu542Pro) | |
| 17 | g.42543574T>G | CA399604186 | NAGLU | c.1568T>G (p.Leu523Arg) c.906T>G (n.906T>G) c.737T>G (p.Leu246Arg) c.569T>G (p.Leu190Arg) c.1625T>G (p.Leu542Arg) | |
| 17 | g.42543575A>C | CA500217062 | NAGLU | c.1569A>C (p.Leu523=) c.907A>C (n.907A>C) c.738A>C (p.Leu246=) c.570A>C (p.Leu190=) c.1626A>C (p.Leu542=) | |
| 17 | g.42543575A>G | CA500217060 | NAGLU | c.1569A>G (p.Leu523=) c.907A>G (n.907A>G) c.738A>G (p.Leu246=) c.570A>G (p.Leu190=) c.1626A>G (p.Leu542=) | ClinVar |
| 17 | g.42543575A>T | CA500217061 | NAGLU | c.1569A>T (p.Leu523=) c.907A>T (n.907A>T) c.738A>T (p.Leu246=) c.570A>T (p.Leu190=) c.1626A>T (p.Leu542=) | |
| 17 | g.42543576C>A | CA399604189 | NAGLU | c.1570C>A (p.Gln524Lys) c.908C>A (n.908C>A) c.739C>A (p.Gln247Lys) c.571C>A (p.Gln191Lys) c.1627C>A (p.Gln543Lys) | |
| 17 | g.42543576C>G | CA399604190 | NAGLU | c.1570C>G (p.Gln524Glu) c.908C>G (n.908C>G) c.739C>G (p.Gln247Glu) c.571C>G (p.Gln191Glu) c.1627C>G (p.Gln543Glu) | |
| 17 | g.42543576C>T | CA399604191 | NAGLU | c.1570C>T (p.Gln524Ter) c.908C>T (n.908C>T) c.739C>T (p.Gln247Ter) c.571C>T (p.Gln191Ter) c.1627C>T (p.Gln543Ter) | ClinVar dbSNP |
| 17 | g.42543577A= | CA2260530356 | NAGLU | c.1571A= (p.Gln524=) c.909A= (n.909A=) c.740A= (p.Gln247=) c.572A= (p.Gln191=) c.1628A= (p.Gln543=) | |
| 17 | g.42543577A>C | CA399604192 | NAGLU | c.1571A>C (p.Gln524Pro) c.909A>C (n.909A>C) c.740A>C (p.Gln247Pro) c.572A>C (p.Gln191Pro) c.1628A>C (p.Gln543Pro) | |
| 17 | g.42543577A>G | CA8577055 | NAGLU | c.1571A>G (p.Gln524Arg) c.909A>G (n.909A>G) c.740A>G (p.Gln247Arg) c.572A>G (p.Gln191Arg) c.1628A>G (p.Gln543Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42543577A>T | CA399604193 | NAGLU | c.1571A>T (p.Gln524Leu) c.909A>T (n.909A>T) c.740A>T (p.Gln247Leu) c.572A>T (p.Gln191Leu) c.1628A>T (p.Gln543Leu) | dbSNP gnomAD v4 |
| 17 | g.42543578G>A | CA500217063 | NAGLU | c.1572G>A (p.Gln524=) c.910G>A (n.910G>A) c.741G>A (p.Gln247=) c.573G>A (p.Gln191=) c.1629G>A (p.Gln543=) | ClinVar gnomAD v4 |
| 17 | g.42543578G>C | CA399604195 | NAGLU | c.1572G>C (p.Gln524His) c.910G>C (n.910G>C) c.741G>C (p.Gln247His) c.573G>C (p.Gln191His) c.1629G>C (p.Gln543His) | |
| 17 | g.42543578G>T | CA399604194 | NAGLU | c.1572G>T (p.Gln524His) c.910G>T (n.910G>T) c.741G>T (p.Gln247His) c.573G>T (p.Gln191His) c.1629G>T (p.Gln543His) | |
| 17 | g.42543579A= | CA2260530357 | NAGLU | c.1573A= (p.Met525=) c.911A= (n.911A=) c.742A= (p.Met248=) c.574A= (p.Met192=) c.1630A= (p.Met544=) | |
| 17 | g.42543579A>C | CA399604196 | NAGLU | c.1573A>C (p.Met525Leu) c.911A>C (n.911A>C) c.742A>C (p.Met248Leu) c.574A>C (p.Met192Leu) c.1630A>C (p.Met544Leu) | |
| 17 | g.42543579A>G | CA399604197 | NAGLU | c.1573A>G (p.Met525Val) c.911A>G (n.911A>G) c.742A>G (p.Met248Val) c.574A>G (p.Met192Val) c.1630A>G (p.Met544Val) | gnomAD v4 |
| 17 | g.42543579A>T | CA290780769 | NAGLU | c.1573A>T (p.Met525Leu) c.911A>T (n.911A>T) c.742A>T (p.Met248Leu) c.574A>T (p.Met192Leu) c.1630A>T (p.Met544Leu) | dbSNP |
| 17 | g.42543580T>A | CA399604198 | NAGLU | c.1574T>A (p.Met525Lys) c.912T>A (n.912T>A) c.743T>A (p.Met248Lys) c.575T>A (p.Met192Lys) c.1631T>A (p.Met544Lys) | |
| 17 | g.42543580T>C | CA399604199 | NAGLU | c.1574T>C (p.Met525Thr) c.912T>C (n.912T>C) c.743T>C (p.Met248Thr) c.575T>C (p.Met192Thr) c.1631T>C (p.Met544Thr) | gnomAD v4 |
| 17 | g.42543580T>G | CA399604200 | NAGLU | c.1574T>G (p.Met525Arg) c.912T>G (n.912T>G) c.743T>G (p.Met248Arg) c.575T>G (p.Met192Arg) c.1631T>G (p.Met544Arg) | |
| 17 | g.42543581G>A | CA399604201 | NAGLU | c.1575G>A (p.Met525Ile) c.913G>A (n.913G>A) c.744G>A (p.Met248Ile) c.576G>A (p.Met192Ile) c.1632G>A (p.Met544Ile) | |
| 17 | g.42543581G>C | CA399604202 | NAGLU | c.1575G>C (p.Met525Ile) c.913G>C (n.913G>C) c.744G>C (p.Met248Ile) c.576G>C (p.Met192Ile) c.1632G>C (p.Met544Ile) | |
| 17 | g.42543581G= | CA2260530358 | NAGLU | c.1575G= (p.Met525=) c.913G= (n.913G=) c.744G= (p.Met248=) c.576G= (p.Met192=) c.1632G= (p.Met544=) | |
| 17 | g.42543581G>T | CA290780780 | NAGLU | c.1575G>T (p.Met525Ile) c.913G>T (n.913G>T) c.744G>T (p.Met248Ile) c.576G>T (p.Met192Ile) c.1632G>T (p.Met544Ile) | dbSNP gnomAD v4 |
| 17 | g.42543582A>C | CA399604203 | NAGLU | c.1576A>C (p.Asn526His) c.914A>C (n.914A>C) c.745A>C (p.Asn249His) c.577A>C (p.Asn193His) c.1633A>C (p.Asn545His) | |
| 17 | g.42543582A>G | CA399604204 | NAGLU | c.1576A>G (p.Asn526Asp) c.914A>G (n.914A>G) c.745A>G (p.Asn249Asp) c.577A>G (p.Asn193Asp) c.1633A>G (p.Asn545Asp) | |
| 17 | g.42543582A>T | CA399604205 | NAGLU | c.1576A>T (p.Asn526Tyr) c.914A>T (n.914A>T) c.745A>T (p.Asn249Tyr) c.577A>T (p.Asn193Tyr) c.1633A>T (p.Asn545Tyr) | |
| 17 | g.42543583A>C | CA399604206 | NAGLU | c.1577A>C (p.Asn526Thr) c.915A>C (n.915A>C) c.746A>C (p.Asn249Thr) c.578A>C (p.Asn193Thr) c.1634A>C (p.Asn545Thr) | gnomAD v4 |
| 17 | g.42543583A>G | CA399604207 | NAGLU | c.1577A>G (p.Asn526Ser) c.915A>G (n.915A>G) c.746A>G (p.Asn249Ser) c.578A>G (p.Asn193Ser) c.1634A>G (p.Asn545Ser) | COSMIC |
| 17 | g.42543583A>T | CA399604208 | NAGLU | c.1577A>T (p.Asn526Ile) c.915A>T (n.915A>T) c.746A>T (p.Asn249Ile) c.578A>T (p.Asn193Ile) c.1634A>T (p.Asn545Ile) | |
| 17 | g.42543584T>A | CA399604209 | NAGLU | c.1578T>A (p.Asn526Lys) c.916T>A (n.916T>A) c.747T>A (p.Asn249Lys) c.579T>A (p.Asn193Lys) c.1635T>A (p.Asn545Lys) | |
| 17 | g.42543584T>C | CA500217067 | NAGLU | c.1578T>C (p.Asn526=) c.916T>C (n.916T>C) c.747T>C (p.Asn249=) c.579T>C (p.Asn193=) c.1635T>C (p.Asn545=) | |
| 17 | g.42543584T>G | CA399604210 | NAGLU | c.1578T>G (p.Asn526Lys) c.916T>G (n.916T>G) c.747T>G (p.Asn249Lys) c.579T>G (p.Asn193Lys) c.1635T>G (p.Asn545Lys) | |
| 17 | g.42543585A= | CA2260530359 | NAGLU | c.1579A= (p.Thr527=) c.917A= (n.917A=) c.748A= (p.Thr250=) c.580A= (p.Thr194=) c.1636A= (p.Thr546=) | |
| 17 | g.42543585A>C | CA399604211 | NAGLU | c.1579A>C (p.Thr527Pro) c.917A>C (n.917A>C) c.748A>C (p.Thr250Pro) c.580A>C (p.Thr194Pro) c.1636A>C (p.Thr546Pro) | dbSNP |
| 17 | g.42543585A>G | CA399604212 | NAGLU | c.1579A>G (p.Thr527Ala) c.917A>G (n.917A>G) c.748A>G (p.Thr250Ala) c.580A>G (p.Thr194Ala) c.1636A>G (p.Thr546Ala) | |
| 17 | g.42543585A>T | CA399604213 | NAGLU | c.1579A>T (p.Thr527Ser) c.917A>T (n.917A>T) c.748A>T (p.Thr250Ser) c.580A>T (p.Thr194Ser) c.1636A>T (p.Thr546Ser) | |
| 17 | g.42543586C>A | CA399604216 | NAGLU | c.1580C>A (p.Thr527Asn) c.918C>A (n.918C>A) c.749C>A (p.Thr250Asn) c.581C>A (p.Thr194Asn) c.1637C>A (p.Thr546Asn) | |
| 17 | g.42543586C>G | CA399604215 | NAGLU | c.1580C>G (p.Thr527Ser) c.918C>G (n.918C>G) c.749C>G (p.Thr250Ser) c.581C>G (p.Thr194Ser) c.1637C>G (p.Thr546Ser) | |
| 17 | g.42543586C>T | CA399604214 | NAGLU | c.1580C>T (p.Thr527Ile) c.918C>T (n.918C>T) c.749C>T (p.Thr250Ile) c.581C>T (p.Thr194Ile) c.1637C>T (p.Thr546Ile) | COSMIC |
| 17 | g.42543587C>A | CA500217069 | NAGLU | c.1581C>A (p.Thr527=) c.919C>A (n.919C>A) c.750C>A (p.Thr250=) c.582C>A (p.Thr194=) c.1638C>A (p.Thr546=) | |
| 17 | g.42543587C>G | CA500217071 | NAGLU | c.1581C>G (p.Thr527=) c.919C>G (n.919C>G) c.750C>G (p.Thr250=) c.582C>G (p.Thr194=) c.1638C>G (p.Thr546=) | |
| 17 | g.42543587C>T | CA500217070 | NAGLU | c.1581C>T (p.Thr527=) c.919C>T (n.919C>T) c.750C>T (p.Thr250=) c.582C>T (p.Thr194=) c.1638C>T (p.Thr546=) | |
| 17 | g.42543588A>C | CA399604217 | NAGLU | c.1582A>C (p.Ser528Arg) c.920A>C (n.920A>C) c.751A>C (p.Ser251Arg) c.583A>C (p.Ser195Arg) c.1639A>C (p.Ser547Arg) | |
| 17 | g.42543588A>G | CA399604219 | NAGLU | c.1582A>G (p.Ser528Gly) c.920A>G (n.920A>G) c.751A>G (p.Ser251Gly) c.583A>G (p.Ser195Gly) c.1639A>G (p.Ser547Gly) | |
| 17 | g.42543588A>T | CA399604218 | NAGLU | c.1582A>T (p.Ser528Cys) c.920A>T (n.920A>T) c.751A>T (p.Ser251Cys) c.583A>T (p.Ser195Cys) c.1639A>T (p.Ser547Cys) | |
| 17 | g.42543589G>A | CA399604220 | NAGLU | c.1583G>A (p.Ser528Asn) c.921G>A (n.921G>A) c.752G>A (p.Ser251Asn) c.584G>A (p.Ser195Asn) c.1640G>A (p.Ser547Asn) | |
| 17 | g.42543589G>C | CA399604222 | NAGLU | c.1583G>C (p.Ser528Thr) c.921G>C (n.921G>C) c.752G>C (p.Ser251Thr) c.584G>C (p.Ser195Thr) c.1640G>C (p.Ser547Thr) | |
| 17 | g.42543589G>T | CA399604221 | NAGLU | c.1583G>T (p.Ser528Ile) c.921G>T (n.921G>T) c.752G>T (p.Ser251Ile) c.584G>T (p.Ser195Ile) c.1640G>T (p.Ser547Ile) | gnomAD v4 |
| 17 | g.42543590C>A | CA8577056 | NAGLU | c.1584C>A (p.Ser528Arg) c.922C>A (n.922C>A) c.753C>A (p.Ser251Arg) c.585C>A (p.Ser195Arg) c.1641C>A (p.Ser547Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.42543590C= | CA2260530360 | NAGLU | c.1584C= (p.Ser528=) c.922C= (n.922C=) c.753C= (p.Ser251=) c.585C= (p.Ser195=) c.1641C= (p.Ser547=) | |
| 17 | g.42543590C>G | CA399604223 | NAGLU | c.1584C>G (p.Ser528Arg) c.922C>G (n.922C>G) c.753C>G (p.Ser251Arg) c.585C>G (p.Ser195Arg) c.1641C>G (p.Ser547Arg) | |
| 17 | g.42543590C>T | CA500217072 | NAGLU | c.1584C>T (p.Ser528=) c.922C>T (n.922C>T) c.753C>T (p.Ser251=) c.585C>T (p.Ser195=) c.1641C>T (p.Ser547=) | gnomAD v4 |
| 17 | g.42543591A= | CA2260530361 | NAGLU | c.1585A= (p.Ile529=) c.923A= (n.923A=) c.754A= (p.Ile252=) c.586A= (p.Ile196=) c.1642A= (p.Ile548=) | |
| 17 | g.42543591A>C | CA399604224 | NAGLU | c.1585A>C (p.Ile529Leu) c.923A>C (n.923A>C) c.754A>C (p.Ile252Leu) c.586A>C (p.Ile196Leu) c.1642A>C (p.Ile548Leu) | |
| 17 | g.42543591A>G | CA290780796 | NAGLU | c.1585A>G (p.Ile529Val) c.923A>G (n.923A>G) c.754A>G (p.Ile252Val) c.586A>G (p.Ile196Val) c.1642A>G (p.Ile548Val) | ClinVar dbSNP |
| 17 | g.42543591A>T | CA399604225 | NAGLU | c.1585A>T (p.Ile529Phe) c.923A>T (n.923A>T) c.754A>T (p.Ile252Phe) c.586A>T (p.Ile196Phe) c.1642A>T (p.Ile548Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42543592T>A | CA399604226 | NAGLU | c.1586T>A (p.Ile529Asn) c.924T>A (n.924T>A) c.755T>A (p.Ile252Asn) c.587T>A (p.Ile196Asn) c.1643T>A (p.Ile548Asn) | |
| 17 | g.42543592T>C | CA399604227 | NAGLU | c.1586T>C (p.Ile529Thr) c.924T>C (n.924T>C) c.755T>C (p.Ile252Thr) c.587T>C (p.Ile196Thr) c.1643T>C (p.Ile548Thr) | gnomAD v4 |
| 17 | g.42543592T>G | CA399604228 | NAGLU | c.1586T>G (p.Ile529Ser) c.924T>G (n.924T>G) c.755T>G (p.Ile252Ser) c.587T>G (p.Ile196Ser) c.1643T>G (p.Ile548Ser) | |
| 17 | g.42543593C>A | CA500217076 | NAGLU | c.1587C>A (p.Ile529=) c.925C>A (n.925C>A) c.756C>A (p.Ile252=) c.588C>A (p.Ile196=) c.1644C>A (p.Ile548=) | gnomAD v4 |
| 17 | g.42543593C>G | CA399604229 | NAGLU | c.1587C>G (p.Ile529Met) c.925C>G (n.925C>G) c.756C>G (p.Ile252Met) c.588C>G (p.Ile196Met) c.1644C>G (p.Ile548Met) | gnomAD v4 |
| 17 | g.42543593C>T | CA500217077 | NAGLU | c.1587C>T (p.Ile529=) c.925C>T (n.925C>T) c.756C>T (p.Ile252=) c.588C>T (p.Ile196=) c.1644C>T (p.Ile548=) | |
| 17 | g.42543594T>A | CA399604230 | NAGLU | c.1588T>A (p.Trp530Arg) c.926T>A (n.926T>A) c.757T>A (p.Trp253Arg) c.589T>A (p.Trp197Arg) c.1645T>A (p.Trp549Arg) | |
| 17 | g.42543594T>C | CA399604231 | NAGLU | c.1588T>C (p.Trp530Arg) c.926T>C (n.926T>C) c.757T>C (p.Trp253Arg) c.589T>C (p.Trp197Arg) c.1645T>C (p.Trp549Arg) | |
| 17 | g.42543594T>G | CA399604232 | NAGLU | c.1588T>G (p.Trp530Gly) c.926T>G (n.926T>G) c.757T>G (p.Trp253Gly) c.589T>G (p.Trp197Gly) c.1645T>G (p.Trp549Gly) | gnomAD v4 |
| 17 | g.42543595G>A | CA399604233 | NAGLU | c.1589G>A (p.Trp530Ter) c.927G>A (n.927G>A) c.758G>A (p.Trp253Ter) c.590G>A (p.Trp197Ter) c.1646G>A (p.Trp549Ter) | |
| 17 | g.42543595G>C | CA399604234 | NAGLU | c.1589G>C (p.Trp530Ser) c.927G>C (n.927G>C) c.758G>C (p.Trp253Ser) c.590G>C (p.Trp197Ser) c.1646G>C (p.Trp549Ser) | |
| 17 | g.42543595G>T | CA399604235 | NAGLU | c.1589G>T (p.Trp530Leu) c.927G>T (n.927G>T) c.758G>T (p.Trp253Leu) c.590G>T (p.Trp197Leu) c.1646G>T (p.Trp549Leu) | |
| 17 | g.42543596G>A | CA399604238 | NAGLU | c.1590G>A (p.Trp530Ter) c.928G>A (n.928G>A) c.759G>A (p.Trp253Ter) c.591G>A (p.Trp197Ter) c.1647G>A (p.Trp549Ter) | dbSNP gnomAD v2 |
| 17 | g.42543596G>C | CA399604237 | NAGLU | c.1590G>C (p.Trp530Cys) c.928G>C (n.928G>C) c.759G>C (p.Trp253Cys) c.591G>C (p.Trp197Cys) c.1647G>C (p.Trp549Cys) | |
| 17 | g.42543596G= | CA2260530362 | NAGLU | c.1590G= (p.Trp530=) c.928G= (n.928G=) c.759G= (p.Trp253=) c.591G= (p.Trp197=) c.1647G= (p.Trp549=) | |
| 17 | g.42543596G>T | CA399604236 | NAGLU | c.1590G>T (p.Trp530Cys) c.928G>T (n.928G>T) c.759G>T (p.Trp253Cys) c.591G>T (p.Trp197Cys) c.1647G>T (p.Trp549Cys) | |
| 17 | g.42543597T>A | CA399604239 | NAGLU | c.1591T>A (p.Tyr531Asn) c.929T>A (n.929T>A) c.760T>A (p.Tyr254Asn) c.592T>A (p.Tyr198Asn) c.1648T>A (p.Tyr550Asn) | |
| 17 | g.42543597T>C | CA399604240 | NAGLU | c.1591T>C (p.Tyr531His) c.929T>C (n.929T>C) c.760T>C (p.Tyr254His) c.592T>C (p.Tyr198His) c.1648T>C (p.Tyr550His) | |
| 17 | g.42543597T>G | CA399604241 | NAGLU | c.1591T>G (p.Tyr531Asp) c.929T>G (n.929T>G) c.760T>G (p.Tyr254Asp) c.592T>G (p.Tyr198Asp) c.1648T>G (p.Tyr550Asp) | |
| 17 | g.42543598A>C | CA399604242 | NAGLU | c.1592A>C (p.Tyr531Ser) c.930A>C (n.930A>C) c.761A>C (p.Tyr254Ser) c.593A>C (p.Tyr198Ser) c.1649A>C (p.Tyr550Ser) | |
| 17 | g.42543598A>G | CA399604243 | NAGLU | c.1592A>G (p.Tyr531Cys) c.930A>G (n.930A>G) c.761A>G (p.Tyr254Cys) c.593A>G (p.Tyr198Cys) c.1649A>G (p.Tyr550Cys) | |
| 17 | g.42543598A>T | CA399604244 | NAGLU | c.1592A>T (p.Tyr531Phe) c.930A>T (n.930A>T) c.761A>T (p.Tyr254Phe) c.593A>T (p.Tyr198Phe) c.1649A>T (p.Tyr550Phe) | |
| 17 | g.42543599C>A | CA399604245 | NAGLU | c.1593C>A (p.Tyr531Ter) c.931C>A (n.931C>A) c.762C>A (p.Tyr254Ter) c.594C>A (p.Tyr198Ter) c.1650C>A (p.Tyr550Ter) | |
| 17 | g.42543599C>G | CA399604246 | NAGLU | c.1593C>G (p.Tyr531Ter) c.931C>G (n.931C>G) c.762C>G (p.Tyr254Ter) c.594C>G (p.Tyr198Ter) c.1650C>G (p.Tyr550Ter) | |
| 17 | g.42543599C>T | CA500217081 | NAGLU | c.1593C>T (p.Tyr531=) c.931C>T (n.931C>T) c.762C>T (p.Tyr254=) c.594C>T (p.Tyr198=) c.1650C>T (p.Tyr550=) | gnomAD v4 |
| 17 | g.42543600A>C | CA399604247 | NAGLU | c.1594A>C (p.Asn532His) c.932A>C (n.932A>C) c.763A>C (p.Asn255His) c.595A>C (p.Asn199His) c.1651A>C (p.Asn551His) | |
| 17 | g.42543600A>G | CA399604248 | NAGLU | c.1594A>G (p.Asn532Asp) c.932A>G (n.932A>G) c.763A>G (p.Asn255Asp) c.595A>G (p.Asn199Asp) c.1651A>G (p.Asn551Asp) | |
| 17 | g.42543600A>T | CA399604249 | NAGLU | c.1594A>T (p.Asn532Tyr) c.932A>T (n.932A>T) c.763A>T (p.Asn255Tyr) c.595A>T (p.Asn199Tyr) c.1651A>T (p.Asn551Tyr) | |
| 17 | g.42543601A>C | CA399604251 | NAGLU | c.1595A>C (p.Asn532Thr) c.933A>C (n.933A>C) c.764A>C (p.Asn255Thr) c.596A>C (p.Asn199Thr) c.1652A>C (p.Asn551Thr) | |
| 17 | g.42543601A>G | CA399604252 | NAGLU | c.1595A>G (p.Asn532Ser) c.933A>G (n.933A>G) c.764A>G (p.Asn255Ser) c.596A>G (p.Asn199Ser) c.1652A>G (p.Asn551Ser) | |
| 17 | g.42543601A>T | CA399604250 | NAGLU | c.1595A>T (p.Asn532Ile) c.933A>T (n.933A>T) c.764A>T (p.Asn255Ile) c.596A>T (p.Asn199Ile) c.1652A>T (p.Asn551Ile) | |
| 17 | g.42543602C>A | CA399604253 | NAGLU | c.1596C>A (p.Asn532Lys) c.934C>A (n.934C>A) c.765C>A (p.Asn255Lys) c.597C>A (p.Asn199Lys) c.1653C>A (p.Asn551Lys) | |
| 17 | g.42543602C= | CA2260530363 | NAGLU | c.1596C= (p.Asn532=) c.934C= (n.934C=) c.765C= (p.Asn255=) c.597C= (p.Asn199=) c.1653C= (p.Asn551=) | |
| 17 | g.42543602C>G | CA399604254 | NAGLU | c.1596C>G (p.Asn532Lys) c.934C>G (n.934C>G) c.765C>G (p.Asn255Lys) c.597C>G (p.Asn199Lys) c.1653C>G (p.Asn551Lys) | |
| 17 | g.42543602C>T | CA500217083 | NAGLU | c.1596C>T (p.Asn532=) c.934C>T (n.934C>T) c.765C>T (p.Asn255=) c.597C>T (p.Asn199=) c.1653C>T (p.Asn551=) | dbSNP |
| 17 | g.42543603C>A | CA500217085 | NAGLU | c.1597C>A (p.Arg533=) c.935C>A (n.935C>A) c.766C>A (p.Arg256=) c.598C>A (p.Arg200=) c.1654C>A (p.Arg552=) | |
| 17 | g.42543603C= | CA2260530364 | NAGLU | c.1597C= (p.Arg533=) c.935C= (n.935C=) c.766C= (p.Arg256=) c.598C= (p.Arg200=) c.1654C= (p.Arg552=) | |
| 17 | g.42543603C>G | CA399604255 | NAGLU | c.1597C>G (p.Arg533Gly) c.935C>G (n.935C>G) c.766C>G (p.Arg256Gly) c.598C>G (p.Arg200Gly) c.1654C>G (p.Arg552Gly) | |
| 17 | g.42543603C>T | CA399604256 | NAGLU | c.1597C>T (p.Arg533Ter) c.935C>T (n.935C>T) c.766C>T (p.Arg256Ter) c.598C>T (p.Arg200Ter) c.1654C>T (p.Arg552Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.42543604G>A | CA8577057 | NAGLU | c.1598G>A (p.Arg533Gln) c.936G>A (n.936G>A) c.767G>A (p.Arg256Gln) c.599G>A (p.Arg200Gln) c.1655G>A (p.Arg552Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42543604G>C | CA399604258 | NAGLU | c.1598G>C (p.Arg533Pro) c.936G>C (n.936G>C) c.767G>C (p.Arg256Pro) c.599G>C (p.Arg200Pro) c.1655G>C (p.Arg552Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.42543604G= | CA2260530365 | NAGLU | c.1598G= (p.Arg533=) c.936G= (n.936G=) c.767G= (p.Arg256=) c.599G= (p.Arg200=) c.1655G= (p.Arg552=) | |
| 17 | g.42543604G>T | CA399604257 | NAGLU | c.1598G>T (p.Arg533Leu) c.936G>T (n.936G>T) c.767G>T (p.Arg256Leu) c.599G>T (p.Arg200Leu) c.1655G>T (p.Arg552Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.42543605A>C | CA500217086 | NAGLU | c.1599A>C (p.Arg533=) c.937A>C (n.937A>C) c.768A>C (p.Arg256=) c.600A>C (p.Arg200=) c.1656A>C (p.Arg552=) | |
| 17 | g.42543605A>G | CA500217087 | NAGLU | c.1599A>G (p.Arg533=) c.937A>G (n.937A>G) c.768A>G (p.Arg256=) c.600A>G (p.Arg200=) c.1656A>G (p.Arg552=) | |
| 17 | g.42543605A>T | CA500217088 | NAGLU | c.1599A>T (p.Arg533=) c.937A>T (n.937A>T) c.768A>T (p.Arg256=) c.600A>T (p.Arg200=) c.1656A>T (p.Arg552=) | |
| 17 | g.42543606T>A | CA399604259 | NAGLU | c.1600T>A (p.Ser534Thr) c.938T>A (n.938T>A) c.769T>A (p.Ser257Thr) c.601T>A (p.Ser201Thr) c.1657T>A (p.Ser553Thr) | |
| 17 | g.42543606T>C | CA399604260 | NAGLU | c.1600T>C (p.Ser534Pro) c.938T>C (n.938T>C) c.769T>C (p.Ser257Pro) c.601T>C (p.Ser201Pro) c.1657T>C (p.Ser553Pro) | |
| 17 | g.42543606T>G | CA399604261 | NAGLU | c.1600T>G (p.Ser534Ala) c.938T>G (n.938T>G) c.769T>G (p.Ser257Ala) c.601T>G (p.Ser201Ala) c.1657T>G (p.Ser553Ala) | |
| 17 | g.42543607C>A | CA399604262 | NAGLU | c.1601C>A (p.Ser534Tyr) c.939C>A (n.939C>A) c.770C>A (p.Ser257Tyr) c.602C>A (p.Ser201Tyr) c.1658C>A (p.Ser553Tyr) | |
| 17 | g.42543607C= | CA2260530366 | NAGLU | c.1601C= (p.Ser534=) c.939C= (n.939C=) c.770C= (p.Ser257=) c.602C= (p.Ser201=) c.1658C= (p.Ser553=) | |
| 17 | g.42543607C>G | CA399604263 | NAGLU | c.1601C>G (p.Ser534Cys) c.939C>G (n.939C>G) c.770C>G (p.Ser257Cys) c.602C>G (p.Ser201Cys) c.1658C>G (p.Ser553Cys) | |
| 17 | g.42543607C>T | CA399604264 | NAGLU | c.1601C>T (p.Ser534Phe) c.939C>T (n.939C>T) c.770C>T (p.Ser257Phe) c.602C>T (p.Ser201Phe) c.1658C>T (p.Ser553Phe) | ClinVar dbSNP gnomAD v4 |
| 17 | g.42543608T>A | CA500217092 | NAGLU | c.1602T>A (p.Ser534=) c.940T>A (n.940T>A) c.771T>A (p.Ser257=) c.603T>A (p.Ser201=) c.1659T>A (p.Ser553=) | |
| 17 | g.42543608T>C | CA500217094 | NAGLU | c.1602T>C (p.Ser534=) c.940T>C (n.940T>C) c.771T>C (p.Ser257=) c.603T>C (p.Ser201=) c.1659T>C (p.Ser553=) | |
| 17 | g.42543608T>G | CA500217093 | NAGLU | c.1602T>G (p.Ser534=) c.940T>G (n.940T>G) c.771T>G (p.Ser257=) c.603T>G (p.Ser201=) c.1659T>G (p.Ser553=) | |
| 17 | g.42543609G>A | CA399604265 | NAGLU | c.1603G>A (p.Asp535Asn) c.941G>A (n.941G>A) c.772G>A (p.Asp258Asn) c.604G>A (p.Asp202Asn) c.1660G>A (p.Asp554Asn) | dbSNP |
| 17 | g.42543609G>C | CA399604267 | NAGLU | c.1603G>C (p.Asp535His) c.941G>C (n.941G>C) c.772G>C (p.Asp258His) c.604G>C (p.Asp202His) c.1660G>C (p.Asp554His) | dbSNP COSMIC |
| 17 | g.42543609G= | CA2260530367 | NAGLU | c.1603G= (p.Asp535=) c.941G= (n.941G=) c.772G= (p.Asp258=) c.604G= (p.Asp202=) c.1660G= (p.Asp554=) | |
| 17 | g.42543609G>T | CA399604266 | NAGLU | c.1603G>T (p.Asp535Tyr) c.941G>T (n.941G>T) c.772G>T (p.Asp258Tyr) c.604G>T (p.Asp202Tyr) c.1660G>T (p.Asp554Tyr) | |
| 17 | g.42543610A>C | CA399604268 | NAGLU | c.1604A>C (p.Asp535Ala) c.942A>C (n.942A>C) c.773A>C (p.Asp258Ala) c.605A>C (p.Asp202Ala) c.1661A>C (p.Asp554Ala) | |
| 17 | g.42543610A>G | CA399604269 | NAGLU | c.1604A>G (p.Asp535Gly) c.942A>G (n.942A>G) c.773A>G (p.Asp258Gly) c.605A>G (p.Asp202Gly) c.1661A>G (p.Asp554Gly) | |
| 17 | g.42543610A>T | CA399604270 | NAGLU | c.1604A>T (p.Asp535Val) c.942A>T (n.942A>T) c.773A>T (p.Asp258Val) c.605A>T (p.Asp202Val) c.1661A>T (p.Asp554Val) | |
| 17 | g.42543611T>A | CA399604271 | NAGLU | c.1605T>A (p.Asp535Glu) c.943T>A (n.943T>A) c.774T>A (p.Asp258Glu) c.606T>A (p.Asp202Glu) c.1662T>A (p.Asp554Glu) | |
| 17 | g.42543611T>C | CA500217095 | NAGLU | c.1605T>C (p.Asp535=) c.943T>C (n.943T>C) c.774T>C (p.Asp258=) c.606T>C (p.Asp202=) c.1662T>C (p.Asp554=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42543611T>G | CA399604272 | NAGLU | c.1605T>G (p.Asp535Glu) c.943T>G (n.943T>G) c.774T>G (p.Asp258Glu) c.606T>G (p.Asp202Glu) c.1662T>G (p.Asp554Glu) | |
| 17 | g.42543611T= | CA2260530368 | NAGLU | c.1605T= (p.Asp535=) c.943T= (n.943T=) c.774T= (p.Asp258=) c.606T= (p.Asp202=) c.1662T= (p.Asp554=) | |
| 17 | g.42543612G>A | CA8577058 | NAGLU | c.1606G>A (p.Val536Met) c.944G>A (n.944G>A) c.775G>A (p.Val259Met) c.607G>A (p.Val203Met) c.1663G>A (p.Val555Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42543612G>C | CA399604273 | NAGLU | c.1606G>C (p.Val536Leu) c.944G>C (n.944G>C) c.775G>C (p.Val259Leu) c.607G>C (p.Val203Leu) c.1663G>C (p.Val555Leu) | |
| 17 | g.42543612G= | CA2260530369 | NAGLU | c.1606G= (p.Val536=) c.944G= (n.944G=) c.775G= (p.Val259=) c.607G= (p.Val203=) c.1663G= (p.Val555=) | |
| 17 | g.42543612G>T | CA399604274 | NAGLU | c.1606G>T (p.Val536Leu) c.944G>T (n.944G>T) c.775G>T (p.Val259Leu) c.607G>T (p.Val203Leu) c.1663G>T (p.Val555Leu) | |
| 17 | g.42543613T>A | CA399604275 | NAGLU | c.1607T>A (p.Val536Glu) c.945T>A (n.945T>A) c.776T>A (p.Val259Glu) c.608T>A (p.Val203Glu) c.1664T>A (p.Val555Glu) | |
| 17 | g.42543613T>C | CA399604276 | NAGLU | c.1607T>C (p.Val536Ala) c.945T>C (n.945T>C) c.776T>C (p.Val259Ala) c.608T>C (p.Val203Ala) c.1664T>C (p.Val555Ala) | gnomAD v4 |
| 17 | g.42543613T>G | CA399604277 | NAGLU | c.1607T>G (p.Val536Gly) c.945T>G (n.945T>G) c.776T>G (p.Val259Gly) c.608T>G (p.Val203Gly) c.1664T>G (p.Val555Gly) | |
| 17 | g.42543614G>A | CA500217097 | NAGLU | c.1608G>A (p.Val536=) c.946G>A (n.946G>A) c.777G>A (p.Val259=) c.609G>A (p.Val203=) c.1665G>A (p.Val555=) | |
| 17 | g.42543614G>C | CA500217098 | NAGLU | c.1608G>C (p.Val536=) c.946G>C (n.946G>C) c.777G>C (p.Val259=) c.609G>C (p.Val203=) c.1665G>C (p.Val555=) | |
| 17 | g.42543614G>T | CA500217096 | NAGLU | c.1608G>T (p.Val536=) c.946G>T (n.946G>T) c.777G>T (p.Val259=) c.609G>T (p.Val203=) c.1665G>T (p.Val555=) | gnomAD v4 |
| 17 | g.42543615T>A | CA399604280 | NAGLU | c.1609T>A (p.Phe537Ile) c.947T>A (n.947T>A) c.778T>A (p.Phe260Ile) c.610T>A (p.Phe204Ile) c.1666T>A (p.Phe556Ile) | |
| 17 | g.42543615T>C | CA399604279 | NAGLU | c.1609T>C (p.Phe537Leu) c.947T>C (n.947T>C) c.778T>C (p.Phe260Leu) c.610T>C (p.Phe204Leu) c.1666T>C (p.Phe556Leu) | |
| 17 | g.42543615T>G | CA399604278 | NAGLU | c.1609T>G (p.Phe537Val) c.947T>G (n.947T>G) c.778T>G (p.Phe260Val) c.610T>G (p.Phe204Val) c.1666T>G (p.Phe556Val) | |
| 17 | g.42543616T>A | CA399604281 | NAGLU | c.1610T>A (p.Phe537Tyr) c.948T>A (n.948T>A) c.779T>A (p.Phe260Tyr) c.611T>A (p.Phe204Tyr) c.1667T>A (p.Phe556Tyr) | |
| 17 | g.42543616T>C | CA399604282 | NAGLU | c.1610T>C (p.Phe537Ser) c.948T>C (n.948T>C) c.779T>C (p.Phe260Ser) c.611T>C (p.Phe204Ser) c.1667T>C (p.Phe556Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.42543616T>G | CA399604283 | NAGLU | c.1610T>G (p.Phe537Cys) c.948T>G (n.948T>G) c.779T>G (p.Phe260Cys) c.611T>G (p.Phe204Cys) c.1667T>G (p.Phe556Cys) | gnomAD v4 |
| 17 | g.42543616T= | CA2260530370 | NAGLU | c.1610T= (p.Phe537=) c.948T= (n.948T=) c.779T= (p.Phe260=) c.611T= (p.Phe204=) c.1667T= (p.Phe556=) | |
| 17 | g.42543616_42543619del | CA2637971362 | NAGLU | c.1610_1613del (p.Phe537TrpfsTer?) c.948_951del (n.948_951del) c.779_782del (p.Phe260TrpfsTer?) c.611_614del (p.Phe204TrpfsTer?) c.1667_1670del (p.Phe556TrpfsTer?) | gnomAD v4 |
| 17 | g.42543617T>A | CA399604284 | NAGLU | c.1611T>A (p.Phe537Leu) c.949T>A (n.949T>A) c.780T>A (p.Phe260Leu) c.612T>A (p.Phe204Leu) c.1668T>A (p.Phe556Leu) | |
| 17 | g.42543617T>C | CA500217099 | NAGLU | c.1611T>C (p.Phe537=) c.949T>C (n.949T>C) c.780T>C (p.Phe260=) c.612T>C (p.Phe204=) c.1668T>C (p.Phe556=) | |
| 17 | g.42543617T>G | CA399604285 | NAGLU | c.1611T>G (p.Phe537Leu) c.949T>G (n.949T>G) c.780T>G (p.Phe260Leu) c.612T>G (p.Phe204Leu) c.1668T>G (p.Phe556Leu) | |
| 17 | g.42543618G>A | CA399604286 | NAGLU | c.1612G>A (p.Glu538Lys) c.950G>A (n.950G>A) c.781G>A (p.Glu261Lys) c.613G>A (p.Glu205Lys) c.1669G>A (p.Glu557Lys) | |
| 17 | g.42543618G>C | CA399604287 | NAGLU | c.1612G>C (p.Glu538Gln) c.950G>C (n.950G>C) c.781G>C (p.Glu261Gln) c.613G>C (p.Glu205Gln) c.1669G>C (p.Glu557Gln) | ClinVar |
| 17 | g.42543618G>T | CA399604288 | NAGLU | c.1612G>T (p.Glu538Ter) c.950G>T (n.950G>T) c.781G>T (p.Glu261Ter) c.613G>T (p.Glu205Ter) c.1669G>T (p.Glu557Ter) | |
| 17 | g.42543619A>C | CA399604289 | NAGLU | c.1613A>C (p.Glu538Ala) c.951A>C (n.951A>C) c.782A>C (p.Glu261Ala) c.614A>C (p.Glu205Ala) c.1670A>C (p.Glu557Ala) | |
| 17 | g.42543619A>G | CA399604290 | NAGLU | c.1613A>G (p.Glu538Gly) c.951A>G (n.951A>G) c.782A>G (p.Glu261Gly) c.614A>G (p.Glu205Gly) c.1670A>G (p.Glu557Gly) | |
| 17 | g.42543619A>T | CA399604291 | NAGLU | c.1613A>T (p.Glu538Val) c.951A>T (n.951A>T) c.782A>T (p.Glu261Val) c.614A>T (p.Glu205Val) c.1670A>T (p.Glu557Val) | |
| 17 | g.42543620G>A | CA500217101 | NAGLU | c.1614G>A (p.Glu538=) c.952G>A (n.952G>A) c.783G>A (p.Glu261=) c.615G>A (p.Glu205=) c.1671G>A (p.Glu557=) | ClinVar gnomAD v4 |
| 17 | g.42543620G>C | CA399604292 | NAGLU | c.1614G>C (p.Glu538Asp) c.952G>C (n.952G>C) c.783G>C (p.Glu261Asp) c.615G>C (p.Glu205Asp) c.1671G>C (p.Glu557Asp) | gnomAD v4 |
| 17 | g.42543620G= | CA2260530371 | NAGLU | c.1614G= (p.Glu538=) c.952G= (n.952G=) c.783G= (p.Glu261=) c.615G= (p.Glu205=) c.1671G= (p.Glu557=) | |
| 17 | g.42543620G>T | CA399604293 | NAGLU | c.1614G>T (p.Glu538Asp) c.952G>T (n.952G>T) c.783G>T (p.Glu261Asp) c.615G>T (p.Glu205Asp) c.1671G>T (p.Glu557Asp) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.42543621G>A | CA399604296 | NAGLU | c.1615G>A (p.Ala539Thr) c.953G>A (n.953G>A) c.784G>A (p.Ala262Thr) c.616G>A (p.Ala206Thr) c.1672G>A (p.Ala558Thr) | gnomAD v4 |
| 17 | g.42543621G>C | CA399604295 | NAGLU | c.1615G>C (p.Ala539Pro) c.953G>C (n.953G>C) c.784G>C (p.Ala262Pro) c.616G>C (p.Ala206Pro) c.1672G>C (p.Ala558Pro) | |
| 17 | g.42543621G>T | CA399604294 | NAGLU | c.1615G>T (p.Ala539Ser) c.953G>T (n.953G>T) c.784G>T (p.Ala262Ser) c.616G>T (p.Ala206Ser) c.1672G>T (p.Ala558Ser) | gnomAD v4 |
| 17 | g.42543622C>A | CA399604297 | NAGLU | c.1616C>A (p.Ala539Asp) c.954C>A (n.954C>A) c.785C>A (p.Ala262Asp) c.617C>A (p.Ala206Asp) c.1673C>A (p.Ala558Asp) | |
| 17 | g.42543622C>G | CA399604298 | NAGLU | c.1616C>G (p.Ala539Gly) c.954C>G (n.954C>G) c.785C>G (p.Ala262Gly) c.617C>G (p.Ala206Gly) c.1673C>G (p.Ala558Gly) | |
| 17 | g.42543622C>T | CA399604299 | NAGLU | c.1616C>T (p.Ala539Val) c.954C>T (n.954C>T) c.785C>T (p.Ala262Val) c.617C>T (p.Ala206Val) c.1673C>T (p.Ala558Val) | gnomAD v4 |
| 17 | g.42543623C>A | CA500217103 | NAGLU | c.1617C>A (p.Ala539=) c.955C>A (n.955C>A) c.786C>A (p.Ala262=) c.618C>A (p.Ala206=) c.1674C>A (p.Ala558=) | |
| 17 | g.42543623C= | CA2260530372 | NAGLU | c.1617C= (p.Ala539=) c.955C= (n.955C=) c.786C= (p.Ala262=) c.618C= (p.Ala206=) c.1674C= (p.Ala558=) | |
| 17 | g.42543623C>G | CA500217104 | NAGLU | c.1617C>G (p.Ala539=) c.955C>G (n.955C>G) c.786C>G (p.Ala262=) c.618C>G (p.Ala206=) c.1674C>G (p.Ala558=) | |
| 17 | g.42543623C>T | CA8577059 | NAGLU | c.1617C>T (p.Ala539=) c.955C>T (n.955C>T) c.786C>T (p.Ala262=) c.618C>T (p.Ala206=) c.1674C>T (p.Ala558=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42543624T>A | CA399604300 | NAGLU | c.1618T>A (p.Trp540Arg) c.956T>A (n.956T>A) c.787T>A (p.Trp263Arg) c.619T>A (p.Trp207Arg) c.1675T>A (p.Trp559Arg) | |
| 17 | g.42543624T>C | CA399604301 | NAGLU | c.1618T>C (p.Trp540Arg) c.956T>C (n.956T>C) c.787T>C (p.Trp263Arg) c.619T>C (p.Trp207Arg) c.1675T>C (p.Trp559Arg) | |
| 17 | g.42543624T>G | CA399604302 | NAGLU | c.1618T>G (p.Trp540Gly) c.956T>G (n.956T>G) c.787T>G (p.Trp263Gly) c.619T>G (p.Trp207Gly) c.1675T>G (p.Trp559Gly) | |
| 17 | g.42543625G>A | CA399604303 | NAGLU | c.1619G>A (p.Trp540Ter) c.957G>A (n.957G>A) c.788G>A (p.Trp263Ter) c.620G>A (p.Trp207Ter) c.1676G>A (p.Trp559Ter) | |
| 17 | g.42543625G>C | CA399604304 | NAGLU | c.1619G>C (p.Trp540Ser) c.957G>C (n.957G>C) c.788G>C (p.Trp263Ser) c.620G>C (p.Trp207Ser) c.1676G>C (p.Trp559Ser) | |
| 17 | g.42543625G>T | CA399604305 | NAGLU | c.1619G>T (p.Trp540Leu) c.957G>T (n.957G>T) c.788G>T (p.Trp263Leu) c.620G>T (p.Trp207Leu) c.1676G>T (p.Trp559Leu) | |
| 17 | g.42543626G>A | CA399604306 | NAGLU | c.1620G>A (p.Trp540Ter) c.958G>A (n.958G>A) c.789G>A (p.Trp263Ter) c.621G>A (p.Trp207Ter) c.1677G>A (p.Trp559Ter) | |
| 17 | g.42543626G>C | CA399604307 | NAGLU | c.1620G>C (p.Trp540Cys) c.958G>C (n.958G>C) c.789G>C (p.Trp263Cys) c.621G>C (p.Trp207Cys) c.1677G>C (p.Trp559Cys) | |
| 17 | g.42543626G>T | CA399604308 | NAGLU | c.1620G>T (p.Trp540Cys) c.958G>T (n.958G>T) c.789G>T (p.Trp263Cys) c.621G>T (p.Trp207Cys) c.1677G>T (p.Trp559Cys) | gnomAD v4 |
| 17 | g.42543626_42543627delinsGC | CA2260530373 | NAGLU | c.1620_1621delinsGC (p.Trp540=) c.958_959delinsGC (n.958_959delinsGC) c.789_790delinsGC (p.Trp263=) c.621_622delinsGC (p.Trp207=) c.1677_1678delinsGC (p.Trp559=) |