| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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=) | |
| 17 | g.42543627del | CA626218623 | NAGLU | c.1621del (p.Arg541GlyfsTer?) c.959del (n.959del) c.790del (p.Arg264GlyfsTer?) c.622del (p.Arg208GlyfsTer?) c.1678del (p.Arg560GlyfsTer?) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.42543627C>A | CA8577060 | NAGLU | c.1621C>A (p.Arg541=) c.959C>A (n.959C>A) c.790C>A (p.Arg264=) c.622C>A (p.Arg208=) c.1678C>A (p.Arg560=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.42543627C= | CA2260530374 | NAGLU | c.1621C= (p.Arg541=) c.959C= (n.959C=) c.790C= (p.Arg264=) c.622C= (p.Arg208=) c.1678C= (p.Arg560=) | |
| 17 | g.42543627C>G | CA399604310 | NAGLU | c.1621C>G (p.Arg541Gly) c.959C>G (n.959C>G) c.790C>G (p.Arg264Gly) c.622C>G (p.Arg208Gly) c.1678C>G (p.Arg560Gly) | |
| 17 | g.42543627C>T | CA399604309 | NAGLU | c.1621C>T (p.Arg541Trp) c.959C>T (n.959C>T) c.790C>T (p.Arg264Trp) c.622C>T (p.Arg208Trp) c.1678C>T (p.Arg560Trp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42543628G>A | CA8577061 | NAGLU | c.1622G>A (p.Arg541Gln) c.960G>A (n.960G>A) c.791G>A (p.Arg264Gln) c.623G>A (p.Arg208Gln) c.1679G>A (p.Arg560Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.42543628G>C | CA399604311 | NAGLU | c.1622G>C (p.Arg541Pro) c.960G>C (n.960G>C) c.791G>C (p.Arg264Pro) c.623G>C (p.Arg208Pro) c.1679G>C (p.Arg560Pro) | |
| 17 | g.42543628G= | CA2260530375 | NAGLU | c.1622G= (p.Arg541=) c.960G= (n.960G=) c.791G= (p.Arg264=) c.623G= (p.Arg208=) c.1679G= (p.Arg560=) | |
| 17 | g.42543628G>T | CA399604312 | NAGLU | c.1622G>T (p.Arg541Leu) c.960G>T (n.960G>T) c.791G>T (p.Arg264Leu) c.623G>T (p.Arg208Leu) c.1679G>T (p.Arg560Leu) | |
| 17 | g.42543629G>A | CA8577062 | NAGLU | c.1623G>A (p.Arg541=) c.961G>A (n.961G>A) c.792G>A (p.Arg264=) c.624G>A (p.Arg208=) c.1680G>A (p.Arg560=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42543629G>C | CA8577063 | NAGLU | c.1623G>C (p.Arg541=) c.961G>C (n.961G>C) c.792G>C (p.Arg264=) c.624G>C (p.Arg208=) c.1680G>C (p.Arg560=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42543629G= | CA2260530376 | NAGLU | c.1623G= (p.Arg541=) c.961G= (n.961G=) c.792G= (p.Arg264=) c.624G= (p.Arg208=) c.1680G= (p.Arg560=) | |
| 17 | g.42543629G>T | CA500217110 | NAGLU | c.1623G>T (p.Arg541=) c.961G>T (n.961G>T) c.792G>T (p.Arg264=) c.624G>T (p.Arg208=) c.1680G>T (p.Arg560=) | ClinVar |
| 17 | g.42543630C>A | CA399604313 | NAGLU | c.1624C>A (p.Leu542Met) c.962C>A (n.962C>A) c.793C>A (p.Leu265Met) c.625C>A (p.Leu209Met) c.1681C>A (p.Leu561Met) | |
| 17 | g.42543630C>G | CA399604314 | NAGLU | c.1624C>G (p.Leu542Val) c.962C>G (n.962C>G) c.793C>G (p.Leu265Val) c.625C>G (p.Leu209Val) c.1681C>G (p.Leu561Val) | |
| 17 | g.42543630C>T | CA500217111 | NAGLU | c.1624C>T (p.Leu542=) c.962C>T (n.962C>T) c.793C>T (p.Leu265=) c.625C>T (p.Leu209=) c.1681C>T (p.Leu561=) | ClinVar dbSNP gnomAD v4 |
| 17 | g.42543631T>A | CA399604315 | NAGLU | c.1625T>A (p.Leu542Gln) c.963T>A (n.963T>A) c.794T>A (p.Leu265Gln) c.626T>A (p.Leu209Gln) c.1682T>A (p.Leu561Gln) | |
| 17 | g.42543631T>C | CA8577064 | NAGLU | c.1625T>C (p.Leu542Pro) c.963T>C (n.963T>C) c.794T>C (p.Leu265Pro) c.626T>C (p.Leu209Pro) c.1682T>C (p.Leu561Pro) | dbSNP ExAC gnomAD v2 |
| 17 | g.42543631T>G | CA8577065 | NAGLU | c.1625T>G (p.Leu542Arg) c.963T>G (n.963T>G) c.794T>G (p.Leu265Arg) c.626T>G (p.Leu209Arg) c.1682T>G (p.Leu561Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.42543631T= | CA2260530377 | NAGLU | c.1625T= (p.Leu542=) c.963T= (n.963T=) c.794T= (p.Leu265=) c.626T= (p.Leu209=) c.1682T= (p.Leu561=) | |
| 17 | g.42543632G>A | CA500217112 | NAGLU | c.1626G>A (p.Leu542=) c.964G>A (n.964G>A) c.795G>A (p.Leu265=) c.627G>A (p.Leu209=) c.1683G>A (p.Leu561=) | ClinVar gnomAD v4 |
| 17 | g.42543632G>C | CA500217116 | NAGLU | c.1626G>C (p.Leu542=) c.964G>C (n.964G>C) c.795G>C (p.Leu265=) c.627G>C (p.Leu209=) c.1683G>C (p.Leu561=) | |
| 17 | g.42543632G>T | CA500217114 | NAGLU | c.1626G>T (p.Leu542=) c.964G>T (n.964G>T) c.795G>T (p.Leu265=) c.627G>T (p.Leu209=) c.1683G>T (p.Leu561=) | |
| 17 | g.42543633C>A | CA399604316 | NAGLU | c.1627C>A (p.Leu543Met) c.965C>A (n.965C>A) c.796C>A (p.Leu266Met) c.628C>A (p.Leu210Met) c.1684C>A (p.Leu562Met) | |
| 17 | g.42543633C>G | CA399604317 | NAGLU | c.1627C>G (p.Leu543Val) c.965C>G (n.965C>G) c.796C>G (p.Leu266Val) c.628C>G (p.Leu210Val) c.1684C>G (p.Leu562Val) | |
| 17 | g.42543633C>T | CA500217117 | NAGLU | c.1627C>T (p.Leu543=) c.965C>T (n.965C>T) c.796C>T (p.Leu266=) c.628C>T (p.Leu210=) c.1684C>T (p.Leu562=) | |
| 17 | g.42543634T>A | CA399604320 | NAGLU | c.1628T>A (p.Leu543Gln) c.966T>A (n.966T>A) c.797T>A (p.Leu266Gln) c.629T>A (p.Leu210Gln) c.1685T>A (p.Leu562Gln) | |
| 17 | g.42543634T>C | CA399604318 | NAGLU | c.1628T>C (p.Leu543Pro) c.966T>C (n.966T>C) c.797T>C (p.Leu266Pro) c.629T>C (p.Leu210Pro) c.1685T>C (p.Leu562Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.42543634T>G | CA399604319 | NAGLU | c.1628T>G (p.Leu543Arg) c.966T>G (n.966T>G) c.797T>G (p.Leu266Arg) c.629T>G (p.Leu210Arg) c.1685T>G (p.Leu562Arg) | |
| 17 | g.42543634T= | CA2260530378 | NAGLU | c.1628T= (p.Leu543=) c.966T= (n.966T=) c.797T= (p.Leu266=) c.629T= (p.Leu210=) c.1685T= (p.Leu562=) | |
| 17 | g.42543635G>A | CA500217121 | NAGLU | c.1629G>A (p.Leu543=) c.967G>A (n.967G>A) c.798G>A (p.Leu266=) c.630G>A (p.Leu210=) c.1686G>A (p.Leu562=) | dbSNP |
| 17 | g.42543635G>C | CA500217119 | NAGLU | c.1629G>C (p.Leu543=) c.967G>C (n.967G>C) c.798G>C (p.Leu266=) c.630G>C (p.Leu210=) c.1686G>C (p.Leu562=) | |
| 17 | g.42543635G>T | CA500217120 | NAGLU | c.1629G>T (p.Leu543=) c.967G>T (n.967G>T) c.798G>T (p.Leu266=) c.630G>T (p.Leu210=) c.1686G>T (p.Leu562=) | gnomAD v4 |
| 17 | g.42543636C>A | CA399604321 | NAGLU | c.1630C>A (p.Leu544Ile) c.968C>A (n.968C>A) c.799C>A (p.Leu267Ile) c.631C>A (p.Leu211Ile) c.1687C>A (p.Leu563Ile) | |
| 17 | g.42543636C>G | CA399604322 | NAGLU | c.1630C>G (p.Leu544Val) c.968C>G (n.968C>G) c.799C>G (p.Leu267Val) c.631C>G (p.Leu211Val) c.1687C>G (p.Leu563Val) | |
| 17 | g.42543636C>T | CA399604323 | NAGLU | c.1630C>T (p.Leu544Phe) c.968C>T (n.968C>T) c.799C>T (p.Leu267Phe) c.631C>T (p.Leu211Phe) c.1687C>T (p.Leu563Phe) | |
| 17 | g.42543637T>A | CA399604324 | NAGLU | c.1631T>A (p.Leu544His) c.969T>A (n.969T>A) c.800T>A (p.Leu267His) c.632T>A (p.Leu211His) c.1688T>A (p.Leu563His) | |
| 17 | g.42543637T>C | CA399604325 | NAGLU | c.1631T>C (p.Leu544Pro) c.969T>C (n.969T>C) c.800T>C (p.Leu267Pro) c.632T>C (p.Leu211Pro) c.1688T>C (p.Leu563Pro) | gnomAD v4 |
| 17 | g.42543637T>G | CA399604326 | NAGLU | c.1631T>G (p.Leu544Arg) c.969T>G (n.969T>G) c.800T>G (p.Leu267Arg) c.632T>G (p.Leu211Arg) c.1688T>G (p.Leu563Arg) | |
| 17 | g.42543638C>A | CA500217124 | NAGLU | c.1632C>A (p.Leu544=) c.970C>A (n.970C>A) c.801C>A (p.Leu267=) c.633C>A (p.Leu211=) c.1689C>A (p.Leu563=) | ClinVar dbSNP |
| 17 | g.42543638C>G | CA500217125 | NAGLU | c.1632C>G (p.Leu544=) c.970C>G (n.970C>G) c.801C>G (p.Leu267=) c.633C>G (p.Leu211=) c.1689C>G (p.Leu563=) | |
| 17 | g.42543638C>T | CA500217123 | NAGLU | c.1632C>T (p.Leu544=) c.970C>T (n.970C>T) c.801C>T (p.Leu267=) c.633C>T (p.Leu211=) c.1689C>T (p.Leu563=) | ClinVar |
| 17 | g.42543639A>C | CA399604327 | NAGLU | c.1633A>C (p.Thr545Pro) c.971A>C (n.971A>C) c.802A>C (p.Thr268Pro) c.634A>C (p.Thr212Pro) c.1690A>C (p.Thr564Pro) | |
| 17 | g.42543639A>G | CA399604328 | NAGLU | c.1633A>G (p.Thr545Ala) c.971A>G (n.971A>G) c.802A>G (p.Thr268Ala) c.634A>G (p.Thr212Ala) c.1690A>G (p.Thr564Ala) | |
| 17 | g.42543639A>T | CA399604329 | NAGLU | c.1633A>T (p.Thr545Ser) c.971A>T (n.971A>T) c.802A>T (p.Thr268Ser) c.634A>T (p.Thr212Ser) c.1690A>T (p.Thr564Ser) | |
| 17 | g.42543640C>A | CA399604330 | NAGLU | c.1634C>A (p.Thr545Lys) c.972C>A (n.972C>A) c.803C>A (p.Thr268Lys) c.635C>A (p.Thr212Lys) c.1691C>A (p.Thr564Lys) | |
| 17 | g.42543640C>G | CA399604331 | NAGLU | c.1634C>G (p.Thr545Arg) c.972C>G (n.972C>G) c.803C>G (p.Thr268Arg) c.635C>G (p.Thr212Arg) c.1691C>G (p.Thr564Arg) | |
| 17 | g.42543640C>T | CA399604332 | NAGLU | c.1634C>T (p.Thr545Ile) c.972C>T (n.972C>T) c.803C>T (p.Thr268Ile) c.635C>T (p.Thr212Ile) c.1691C>T (p.Thr564Ile) | gnomAD v4 |
| 17 | g.42543641A= | CA2260530379 | NAGLU | c.1635A= (p.Thr545=) c.973A= (n.973A=) c.804A= (p.Thr268=) c.636A= (p.Thr212=) c.1692A= (p.Thr564=) | |
| 17 | g.42543641A>C | CA8577066 | NAGLU | c.1635A>C (p.Thr545=) c.973A>C (n.973A>C) c.804A>C (p.Thr268=) c.636A>C (p.Thr212=) c.1692A>C (p.Thr564=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42543641A>G | CA500217127 | NAGLU | c.1635A>G (p.Thr545=) c.973A>G (n.973A>G) c.804A>G (p.Thr268=) c.636A>G (p.Thr212=) c.1692A>G (p.Thr564=) | |
| 17 | g.42543641A>T | CA500217129 | NAGLU | c.1635A>T (p.Thr545=) c.973A>T (n.973A>T) c.804A>T (p.Thr268=) c.636A>T (p.Thr212=) c.1692A>T (p.Thr564=) | |
| 17 | g.42543642T>A | CA399604334 | NAGLU | c.1636T>A (p.Ser546Thr) c.974T>A (n.974T>A) c.805T>A (p.Ser269Thr) c.637T>A (p.Ser213Thr) c.1693T>A (p.Ser565Thr) | |
| 17 | g.42543642T>C | CA399604333 | NAGLU | c.1636T>C (p.Ser546Pro) c.974T>C (n.974T>C) c.805T>C (p.Ser269Pro) c.637T>C (p.Ser213Pro) c.1693T>C (p.Ser565Pro) | dbSNP |
| 17 | g.42543642T>G | CA399604335 | NAGLU | c.1636T>G (p.Ser546Ala) c.974T>G (n.974T>G) c.805T>G (p.Ser269Ala) c.637T>G (p.Ser213Ala) c.1693T>G (p.Ser565Ala) | |
| 17 | g.42543642T= | CA2260530380 | NAGLU | c.1636T= (p.Ser546=) c.974T= (n.974T=) c.805T= (p.Ser269=) c.637T= (p.Ser213=) c.1693T= (p.Ser565=) | |
| 17 | g.42543643C>A | CA399604336 | NAGLU | c.1637C>A (p.Ser546Tyr) c.975C>A (n.975C>A) c.806C>A (p.Ser269Tyr) c.638C>A (p.Ser213Tyr) c.1694C>A (p.Ser565Tyr) | |
| 17 | g.42543643C>G | CA399604338 | NAGLU | c.1637C>G (p.Ser546Cys) c.975C>G (n.975C>G) c.806C>G (p.Ser269Cys) c.638C>G (p.Ser213Cys) c.1694C>G (p.Ser565Cys) | |
| 17 | g.42543643C>T | CA399604337 | NAGLU | c.1637C>T (p.Ser546Phe) c.975C>T (n.975C>T) c.806C>T (p.Ser269Phe) c.638C>T (p.Ser213Phe) c.1694C>T (p.Ser565Phe) | gnomAD v4 |
| 17 | g.42543644T>A | CA500217131 | NAGLU | c.1638T>A (p.Ser546=) c.976T>A (n.976T>A) c.807T>A (p.Ser269=) c.639T>A (p.Ser213=) c.1695T>A (p.Ser565=) | |
| 17 | g.42543644T>C | CA290780871 | NAGLU | c.1638T>C (p.Ser546=) c.976T>C (n.976T>C) c.807T>C (p.Ser269=) c.639T>C (p.Ser213=) c.1695T>C (p.Ser565=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.42543644T>G | CA500217132 | NAGLU | c.1638T>G (p.Ser546=) c.976T>G (n.976T>G) c.807T>G (p.Ser269=) c.639T>G (p.Ser213=) c.1695T>G (p.Ser565=) | |
| 17 | g.42543644T= | CA2260530381 | NAGLU | c.1638T= (p.Ser546=) c.976T= (n.976T=) c.807T= (p.Ser269=) c.639T= (p.Ser213=) c.1695T= (p.Ser565=) | |
| 17 | g.42543645G>A | CA8577067 | NAGLU | c.1639G>A (p.Ala547Thr) c.977G>A (n.977G>A) c.808G>A (p.Ala270Thr) c.640G>A (p.Ala214Thr) c.1696G>A (p.Ala566Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.42543645G>C | CA290780882 | NAGLU | c.1639G>C (p.Ala547Pro) c.977G>C (n.977G>C) c.808G>C (p.Ala270Pro) c.640G>C (p.Ala214Pro) c.1696G>C (p.Ala566Pro) | dbSNP gnomAD v4 |
| 17 | g.42543645G= | CA2260530382 | NAGLU | c.1639G= (p.Ala547=) c.977G= (n.977G=) c.808G= (p.Ala270=) c.640G= (p.Ala214=) c.1696G= (p.Ala566=) | |
| 17 | g.42543645G>T | CA399604339 | NAGLU | c.1639G>T (p.Ala547Ser) c.977G>T (n.977G>T) c.808G>T (p.Ala270Ser) c.640G>T (p.Ala214Ser) c.1696G>T (p.Ala566Ser) | |
| 17 | g.42543646C>A | CA399604340 | NAGLU | c.1640C>A (p.Ala547Asp) c.978C>A (n.978C>A) c.809C>A (p.Ala270Asp) c.641C>A (p.Ala214Asp) c.1697C>A (p.Ala566Asp) | |
| 17 | g.42543646C>G | CA399604341 | NAGLU | c.1640C>G (p.Ala547Gly) c.978C>G (n.978C>G) c.809C>G (p.Ala270Gly) c.641C>G (p.Ala214Gly) c.1697C>G (p.Ala566Gly) | |
| 17 | g.42543646C>T | CA399604342 | NAGLU | c.1640C>T (p.Ala547Val) c.978C>T (n.978C>T) c.809C>T (p.Ala270Val) c.641C>T (p.Ala214Val) c.1697C>T (p.Ala566Val) | COSMIC |
| 17 | g.42543647T>A | CA500217138 | NAGLU | c.1641T>A (p.Ala547=) c.979T>A (n.979T>A) c.810T>A (p.Ala270=) c.642T>A (p.Ala214=) c.1698T>A (p.Ala566=) | |
| 17 | g.42543647T>C | CA500217137 | NAGLU | c.1641T>C (p.Ala547=) c.979T>C (n.979T>C) c.810T>C (p.Ala270=) c.642T>C (p.Ala214=) c.1698T>C (p.Ala566=) | dbSNP gnomAD v4 |
| 17 | g.42543647T>G | CA500217136 | NAGLU | c.1641T>G (p.Ala547=) c.979T>G (n.979T>G) c.810T>G (p.Ala270=) c.642T>G (p.Ala214=) c.1698T>G (p.Ala566=) | |
| 17 | g.42543647T= | CA2260530383 | NAGLU | c.1641T= (p.Ala547=) c.979T= (n.979T=) c.810T= (p.Ala270=) c.642T= (p.Ala214=) c.1698T= (p.Ala566=) | |
| 17 | g.42543648C>A | CA399604343 | NAGLU | c.1642C>A (p.Pro548Thr) c.980C>A (n.980C>A) c.811C>A (p.Pro271Thr) c.643C>A (p.Pro215Thr) c.1699C>A (p.Pro567Thr) | dbSNP |
| 17 | g.42543648C= | CA2260530384 | NAGLU | c.1642C= (p.Pro548=) c.980C= (n.980C=) c.811C= (p.Pro271=) c.643C= (p.Pro215=) c.1699C= (p.Pro567=) | |
| 17 | g.42543648C>G | CA399604344 | NAGLU | c.1642C>G (p.Pro548Ala) c.980C>G (n.980C>G) c.811C>G (p.Pro271Ala) c.643C>G (p.Pro215Ala) c.1699C>G (p.Pro567Ala) | |
| 17 | g.42543648C>T | CA399604345 | NAGLU | c.1642C>T (p.Pro548Ser) c.980C>T (n.980C>T) c.811C>T (p.Pro271Ser) c.643C>T (p.Pro215Ser) c.1699C>T (p.Pro567Ser) | gnomAD v4 |
| 17 | g.42543649C>A | CA399604346 | NAGLU | c.1643C>A (p.Pro548His) c.981C>A (n.981C>A) c.812C>A (p.Pro271His) c.644C>A (p.Pro215His) c.1700C>A (p.Pro567His) | |
| 17 | g.42543649C= | CA2260530385 | NAGLU | c.1643C= (p.Pro548=) c.981C= (n.981C=) c.812C= (p.Pro271=) c.644C= (p.Pro215=) c.1700C= (p.Pro567=) | |
| 17 | g.42543649C>G | CA399604347 | NAGLU | c.1643C>G (p.Pro548Arg) c.981C>G (n.981C>G) c.812C>G (p.Pro271Arg) c.644C>G (p.Pro215Arg) c.1700C>G (p.Pro567Arg) | |
| 17 | g.42543649C>T | CA399604348 | NAGLU | c.1643C>T (p.Pro548Leu) c.981C>T (n.981C>T) c.812C>T (p.Pro271Leu) c.644C>T (p.Pro215Leu) c.1700C>T (p.Pro567Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.42543650C>A | CA500217141 | NAGLU | c.1644C>A (p.Pro548=) c.982C>A (n.982C>A) c.813C>A (p.Pro271=) c.645C>A (p.Pro215=) c.1701C>A (p.Pro567=) | |
| 17 | g.42543650C>G | CA500217142 | NAGLU | c.1644C>G (p.Pro548=) c.982C>G (n.982C>G) c.813C>G (p.Pro271=) c.645C>G (p.Pro215=) c.1701C>G (p.Pro567=) | ClinVar dbSNP |
| 17 | g.42543650C>T | CA500217139 | NAGLU | c.1644C>T (p.Pro548=) c.982C>T (n.982C>T) c.813C>T (p.Pro271=) c.645C>T (p.Pro215=) c.1701C>T (p.Pro567=) | ClinVar gnomAD v4 COSMIC |
| 17 | g.42543651T>A | CA399604349 | NAGLU | c.1645T>A (p.Ser549Thr) c.983T>A (n.983T>A) c.814T>A (p.Ser272Thr) c.646T>A (p.Ser216Thr) c.1702T>A (p.Ser568Thr) | dbSNP |
| 17 | g.42543651T>C | CA399604351 | NAGLU | c.1645T>C (p.Ser549Pro) c.983T>C (n.983T>C) c.814T>C (p.Ser272Pro) c.646T>C (p.Ser216Pro) c.1702T>C (p.Ser568Pro) | |
| 17 | g.42543651T>G | CA399604350 | NAGLU | c.1645T>G (p.Ser549Ala) c.983T>G (n.983T>G) c.814T>G (p.Ser272Ala) c.646T>G (p.Ser216Ala) c.1702T>G (p.Ser568Ala) | |
| 17 | g.42543651T= | CA2260530386 | NAGLU | c.1645T= (p.Ser549=) c.983T= (n.983T=) c.814T= (p.Ser272=) c.646T= (p.Ser216=) c.1702T= (p.Ser568=) | |
| 17 | g.42543652C>A | CA399604352 | NAGLU | c.1646C>A (p.Ser549Tyr) c.984C>A (n.984C>A) c.815C>A (p.Ser272Tyr) c.647C>A (p.Ser216Tyr) c.1703C>A (p.Ser568Tyr) | |
| 17 | g.42543652C>G | CA399604353 | NAGLU | c.1646C>G (p.Ser549Cys) c.984C>G (n.984C>G) c.815C>G (p.Ser272Cys) c.647C>G (p.Ser216Cys) c.1703C>G (p.Ser568Cys) | |
| 17 | g.42543652C>T | CA399604354 | NAGLU | c.1646C>T (p.Ser549Phe) c.984C>T (n.984C>T) c.815C>T (p.Ser272Phe) c.647C>T (p.Ser216Phe) c.1703C>T (p.Ser568Phe) | gnomAD v4 |
| 17 | g.42543653C>A | CA500217144 | NAGLU | c.1647C>A (p.Ser549=) c.985C>A (n.985C>A) c.816C>A (p.Ser272=) c.648C>A (p.Ser216=) c.1704C>A (p.Ser568=) | |
| 17 | g.42543653C= | CA2260530387 | NAGLU | c.1647C= (p.Ser549=) c.985C= (n.985C=) c.816C= (p.Ser272=) c.648C= (p.Ser216=) c.1704C= (p.Ser568=) | |
| 17 | g.42543653C>G | CA500217145 | NAGLU | c.1647C>G (p.Ser549=) c.985C>G (n.985C>G) c.816C>G (p.Ser272=) c.648C>G (p.Ser216=) c.1704C>G (p.Ser568=) | |
| 17 | g.42543653C>T | CA500217146 | NAGLU | c.1647C>T (p.Ser549=) c.985C>T (n.985C>T) c.816C>T (p.Ser272=) c.648C>T (p.Ser216=) c.1704C>T (p.Ser568=) | dbSNP gnomAD v2 |
| 17 | g.42543654C>A | CA399604355 | NAGLU | c.1648C>A (p.Leu550Met) c.986C>A (n.986C>A) c.817C>A (p.Leu273Met) c.649C>A (p.Leu217Met) c.1705C>A (p.Leu569Met) | |
| 17 | g.42543654C>G | CA399604356 | NAGLU | c.1648C>G (p.Leu550Val) c.986C>G (n.986C>G) c.817C>G (p.Leu273Val) c.649C>G (p.Leu217Val) c.1705C>G (p.Leu569Val) | |
| 17 | g.42543654C>T | CA500217147 | NAGLU | c.1648C>T (p.Leu550=) c.986C>T (n.986C>T) c.817C>T (p.Leu273=) c.649C>T (p.Leu217=) c.1705C>T (p.Leu569=) | |
| 17 | g.42543655T>A | CA399604357 | NAGLU | c.1649T>A (p.Leu550Gln) c.987T>A (n.987T>A) c.818T>A (p.Leu273Gln) c.650T>A (p.Leu217Gln) c.1706T>A (p.Leu569Gln) | |
| 17 | g.42543655T>C | CA399604358 | NAGLU | c.1649T>C (p.Leu550Pro) c.987T>C (n.987T>C) c.818T>C (p.Leu273Pro) c.650T>C (p.Leu217Pro) c.1706T>C (p.Leu569Pro) | ClinVar |
| 17 | g.42543655T>G | CA399604359 | NAGLU | c.1649T>G (p.Leu550Arg) c.987T>G (n.987T>G) c.818T>G (p.Leu273Arg) c.650T>G (p.Leu217Arg) c.1706T>G (p.Leu569Arg) | |
| 17 | g.42543656G>A | CA8577068 | NAGLU | c.1650G>A (p.Leu550=) c.988G>A (n.988G>A) c.819G>A (p.Leu273=) c.651G>A (p.Leu217=) c.1707G>A (p.Leu569=) | ClinVar dbSNP ExAC gnomAD v2 |
| 17 | g.42543656G>C | CA500217149 | NAGLU | c.1650G>C (p.Leu550=) c.988G>C (n.988G>C) c.819G>C (p.Leu273=) c.651G>C (p.Leu217=) c.1707G>C (p.Leu569=) | |
| 17 | g.42543656G= | CA2260530388 | NAGLU | c.1650G= (p.Leu550=) c.988G= (n.988G=) c.819G= (p.Leu273=) c.651G= (p.Leu217=) c.1707G= (p.Leu569=) | |
| 17 | g.42543656G>T | CA500217148 | NAGLU | c.1650G>T (p.Leu550=) c.988G>T (n.988G>T) c.819G>T (p.Leu273=) c.651G>T (p.Leu217=) c.1707G>T (p.Leu569=) | gnomAD v4 |
| 17 | g.42543657G>A | CA290780887 | NAGLU | c.1651G>A (p.Ala551Thr) c.989G>A (n.989G>A) c.820G>A (p.Ala274Thr) c.652G>A (p.Ala218Thr) c.1708G>A (p.Ala570Thr) | dbSNP gnomAD v4 |
| 17 | g.42543657G>C | CA399604361 | NAGLU | c.1651G>C (p.Ala551Pro) c.989G>C (n.989G>C) c.820G>C (p.Ala274Pro) c.652G>C (p.Ala218Pro) c.1708G>C (p.Ala570Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.42543657G= | CA2260530389 | NAGLU | c.1651G= (p.Ala551=) c.989G= (n.989G=) c.820G= (p.Ala274=) c.652G= (p.Ala218=) c.1708G= (p.Ala570=) | |
| 17 | g.42543657G>T | CA399604360 | NAGLU | c.1651G>T (p.Ala551Ser) c.989G>T (n.989G>T) c.820G>T (p.Ala274Ser) c.652G>T (p.Ala218Ser) c.1708G>T (p.Ala570Ser) | |
| 17 | g.42543658C>A | CA399604362 | NAGLU | c.1652C>A (p.Ala551Asp) c.990C>A (n.990C>A) c.821C>A (p.Ala274Asp) c.653C>A (p.Ala218Asp) c.1709C>A (p.Ala570Asp) | |
| 17 | g.42543658C= | CA2260530390 | NAGLU | c.1652C= (p.Ala551=) c.990C= (n.990C=) c.821C= (p.Ala274=) c.653C= (p.Ala218=) c.1709C= (p.Ala570=) | |
| 17 | g.42543658C>G | CA399604363 | NAGLU | c.1652C>G (p.Ala551Gly) c.990C>G (n.990C>G) c.821C>G (p.Ala274Gly) c.653C>G (p.Ala218Gly) c.1709C>G (p.Ala570Gly) | |
| 17 | g.42543658C>T | CA399604364 | NAGLU | c.1652C>T (p.Ala551Val) c.990C>T (n.990C>T) c.821C>T (p.Ala274Val) c.653C>T (p.Ala218Val) c.1709C>T (p.Ala570Val) | dbSNP gnomAD v2 |
| 17 | g.42543659C>A | CA500217152 | NAGLU | c.1653C>A (p.Ala551=) c.991C>A (n.991C>A) c.822C>A (p.Ala274=) c.654C>A (p.Ala218=) c.1710C>A (p.Ala570=) | |
| 17 | g.42543659C>G | CA500217150 | NAGLU | c.1653C>G (p.Ala551=) c.991C>G (n.991C>G) c.822C>G (p.Ala274=) c.654C>G (p.Ala218=) c.1710C>G (p.Ala570=) | |
| 17 | g.42543659C>T | CA500217151 | NAGLU | c.1653C>T (p.Ala551=) c.991C>T (n.991C>T) c.822C>T (p.Ala274=) c.654C>T (p.Ala218=) c.1710C>T (p.Ala570=) | gnomAD v4 |
| 17 | g.42543660A= | CA2260530391 | NAGLU | c.1654A= (p.Thr552=) c.992A= (n.992A=) c.823A= (p.Thr275=) c.655A= (p.Thr219=) c.1711A= (p.Thr571=) | |
| 17 | g.42543660A>C | CA399604365 | NAGLU | c.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 |
| 17 | g.42543660A>G | CA399604366 | NAGLU | c.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) | |
| 17 | g.42543660A>T | CA399604367 | NAGLU | c.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) | |
| 17 | g.42543661C>A | CA399604368 | NAGLU | c.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 |
| 17 | g.42543661C= | CA2260530392 | NAGLU | c.1655C= (p.Thr552=) c.993C= (n.993C=) c.824C= (p.Thr275=) c.656C= (p.Thr219=) c.1712C= (p.Thr571=) | |
| 17 | g.42543661C>G | CA399604369 | NAGLU | c.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) | |
| 17 | g.42543661C>T | CA290780897 | NAGLU | c.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 |
| 17 | g.42543662C>A | CA500217156 | NAGLU | c.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=) | |
| 17 | g.42543662C>G | CA500217158 | NAGLU | c.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 |
| 17 | g.42543662C>T | CA500217155 | NAGLU | c.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 |
| 17 | g.42543663A>C | CA399604370 | NAGLU | c.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) | |
| 17 | g.42543663A>G | CA399604371 | NAGLU | c.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) | |
| 17 | g.42543663A>T | CA399604372 | NAGLU | c.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) |