| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.42543783A>C | CA500217365 | NAGLU | c.1777A>C (p.Arg593=) c.1115A>C (n.1115A>C) c.946A>C (p.Arg316=) c.778A>C (p.Arg260=) c.1834A>C (p.Arg612=) | |
| 17 | g.42543783A>G | CA399604840 | NAGLU | c.1777A>G (p.Arg593Gly) c.1115A>G (n.1115A>G) c.946A>G (p.Arg316Gly) c.778A>G (p.Arg260Gly) c.1834A>G (p.Arg612Gly) | |
| 17 | g.42543783A>T | CA399604842 | NAGLU | c.1777A>T (p.Arg593Trp) c.1115A>T (n.1115A>T) c.946A>T (p.Arg316Trp) c.778A>T (p.Arg260Trp) c.1834A>T (p.Arg612Trp) | |
| 17 | g.42543784G>A | CA399604844 | NAGLU | c.1778G>A (p.Arg593Lys) c.1116G>A (n.1116G>A) c.947G>A (p.Arg316Lys) c.779G>A (p.Arg260Lys) c.1835G>A (p.Arg612Lys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.42543784G>C | CA399604845 | NAGLU | c.1778G>C (p.Arg593Thr) c.1116G>C (n.1116G>C) c.947G>C (p.Arg316Thr) c.779G>C (p.Arg260Thr) c.1835G>C (p.Arg612Thr) | |
| 17 | g.42543784G= | CA2260530454 | NAGLU | c.1778G= (p.Arg593=) c.1116G= (n.1116G=) c.947G= (p.Arg316=) c.779G= (p.Arg260=) c.1835G= (p.Arg612=) | |
| 17 | g.42543784G>T | CA399604847 | NAGLU | c.1778G>T (p.Arg593Met) c.1116G>T (n.1116G>T) c.947G>T (p.Arg316Met) c.779G>T (p.Arg260Met) c.1835G>T (p.Arg612Met) | |
| 17 | g.42543785G>A | CA500217372 | NAGLU | c.1779G>A (p.Arg593=) c.1117G>A (n.1117G>A) c.948G>A (p.Arg316=) c.780G>A (p.Arg260=) c.1836G>A (p.Arg612=) | ClinVar dbSNP |
| 17 | g.42543785G>C | CA399604849 | NAGLU | c.1779G>C (p.Arg593Ser) c.1117G>C (n.1117G>C) c.948G>C (p.Arg316Ser) c.780G>C (p.Arg260Ser) c.1836G>C (p.Arg612Ser) | |
| 17 | g.42543785G>T | CA399604851 | NAGLU | c.1779G>T (p.Arg593Ser) c.1117G>T (n.1117G>T) c.948G>T (p.Arg316Ser) c.780G>T (p.Arg260Ser) c.1836G>T (p.Arg612Ser) | |
| 17 | g.42543786G>A | CA399604853 | NAGLU | c.1780G>A (p.Ala594Thr) c.1118G>A (n.1118G>A) c.949G>A (p.Ala317Thr) c.781G>A (p.Ala261Thr) c.1837G>A (p.Ala613Thr) | gnomAD v4 |
| 17 | g.42543786G>C | CA399604855 | NAGLU | c.1780G>C (p.Ala594Pro) c.1118G>C (n.1118G>C) c.949G>C (p.Ala317Pro) c.781G>C (p.Ala261Pro) c.1837G>C (p.Ala613Pro) | |
| 17 | g.42543786G>T | CA399604856 | NAGLU | c.1780G>T (p.Ala594Ser) c.1118G>T (n.1118G>T) c.949G>T (p.Ala317Ser) c.781G>T (p.Ala261Ser) c.1837G>T (p.Ala613Ser) | gnomAD v4 |
| 17 | g.42543787C>A | CA399604861 | NAGLU | c.1781C>A (p.Ala594Asp) c.1119C>A (n.1119C>A) c.950C>A (p.Ala317Asp) c.782C>A (p.Ala261Asp) c.1838C>A (p.Ala613Asp) | |
| 17 | g.42543787C= | CA2260530455 | NAGLU | c.1781C= (p.Ala594=) c.1119C= (n.1119C=) c.950C= (p.Ala317=) c.782C= (p.Ala261=) c.1838C= (p.Ala613=) | |
| 17 | g.42543787C>G | CA399604860 | NAGLU | c.1781C>G (p.Ala594Gly) c.1119C>G (n.1119C>G) c.950C>G (p.Ala317Gly) c.782C>G (p.Ala261Gly) c.1838C>G (p.Ala613Gly) | |
| 17 | g.42543787C>T | CA10650160 | NAGLU | c.1781C>T (p.Ala594Val) c.1119C>T (n.1119C>T) c.950C>T (p.Ala317Val) c.782C>T (p.Ala261Val) c.1838C>T (p.Ala613Val) | ClinVar dbSNP gnomAD v4 |
| 17 | g.42543788T>A | CA8577089 | NAGLU | c.1782T>A (p.Ala594=) c.1120T>A (n.1120T>A) c.951T>A (p.Ala317=) c.783T>A (p.Ala261=) c.1839T>A (p.Ala613=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42543788T>C | CA500217378 | NAGLU | c.1782T>C (p.Ala594=) c.1120T>C (n.1120T>C) c.951T>C (p.Ala317=) c.783T>C (p.Ala261=) c.1839T>C (p.Ala613=) | |
| 17 | g.42543788T>G | CA500217377 | NAGLU | c.1782T>G (p.Ala594=) c.1120T>G (n.1120T>G) c.951T>G (p.Ala317=) c.783T>G (p.Ala261=) c.1839T>G (p.Ala613=) | |
| 17 | g.42543788T= | CA2260530456 | NAGLU | c.1782T= (p.Ala594=) c.1120T= (n.1120T=) c.951T= (p.Ala317=) c.783T= (p.Ala261=) c.1839T= (p.Ala613=) | |
| 17 | g.42543789G>A | CA8577090 | NAGLU | c.1783G>A (p.Gly595Arg) c.1121G>A (n.1121G>A) c.952G>A (p.Gly318Arg) c.784G>A (p.Gly262Arg) c.1840G>A (p.Gly614Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.42543789G>C | CA399604865 | NAGLU | c.1783G>C (p.Gly595Arg) c.1121G>C (n.1121G>C) c.952G>C (p.Gly318Arg) c.784G>C (p.Gly262Arg) c.1840G>C (p.Gly614Arg) | |
| 17 | g.42543789G= | CA2260530457 | NAGLU | c.1783G= (p.Gly595=) c.1121G= (n.1121G=) c.952G= (p.Gly318=) c.784G= (p.Gly262=) c.1840G= (p.Gly614=) | |
| 17 | g.42543789G>T | CA399604867 | NAGLU | c.1783G>T (p.Gly595Ter) c.1121G>T (n.1121G>T) c.952G>T (p.Gly318Ter) c.784G>T (p.Gly262Ter) c.1840G>T (p.Gly614Ter) | |
| 17 | g.42543790G>A | CA399604869 | NAGLU | c.1784G>A (p.Gly595Glu) c.1122G>A (n.1122G>A) c.953G>A (p.Gly318Glu) c.785G>A (p.Gly262Glu) c.1841G>A (p.Gly614Glu) | |
| 17 | g.42543790G>C | CA399604871 | NAGLU | c.1784G>C (p.Gly595Ala) c.1122G>C (n.1122G>C) c.953G>C (p.Gly318Ala) c.785G>C (p.Gly262Ala) c.1841G>C (p.Gly614Ala) | |
| 17 | g.42543790G= | CA2260530458 | NAGLU | c.1784G= (p.Gly595=) c.1122G= (n.1122G=) c.953G= (p.Gly318=) c.785G= (p.Gly262=) c.1841G= (p.Gly614=) | |
| 17 | g.42543790G>T | CA399604873 | NAGLU | c.1784G>T (p.Gly595Val) c.1122G>T (n.1122G>T) c.953G>T (p.Gly318Val) c.785G>T (p.Gly262Val) c.1841G>T (p.Gly614Val) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.42543791A= | CA2260530459 | NAGLU | c.1785A= (p.Gly595=) c.1123A= (n.1123A=) c.954A= (p.Gly318=) c.786A= (p.Gly262=) c.1842A= (p.Gly614=) | |
| 17 | g.42543791A>C | CA500217387 | NAGLU | c.1785A>C (p.Gly595=) c.1123A>C (n.1123A>C) c.954A>C (p.Gly318=) c.786A>C (p.Gly262=) c.1842A>C (p.Gly614=) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.42543791A>G | CA500217386 | NAGLU | c.1785A>G (p.Gly595=) c.1123A>G (n.1123A>G) c.954A>G (p.Gly318=) c.786A>G (p.Gly262=) c.1842A>G (p.Gly614=) | gnomAD v4 |
| 17 | g.42543791A>T | CA500217385 | NAGLU | c.1785A>T (p.Gly595=) c.1123A>T (n.1123A>T) c.954A>T (p.Gly318=) c.786A>T (p.Gly262=) c.1842A>T (p.Gly614=) | |
| 17 | g.42543792G>A | CA399604875 | NAGLU | c.1786G>A (p.Gly596Ser) c.1124G>A (n.1124G>A) c.955G>A (p.Gly319Ser) c.787G>A (p.Gly263Ser) c.1843G>A (p.Gly615Ser) | |
| 17 | g.42543792G>C | CA399604877 | NAGLU | c.1786G>C (p.Gly596Arg) c.1124G>C (n.1124G>C) c.955G>C (p.Gly319Arg) c.787G>C (p.Gly263Arg) c.1843G>C (p.Gly615Arg) | |
| 17 | g.42543792G= | CA2260530460 | NAGLU | c.1786G= (p.Gly596=) c.1124G= (n.1124G=) c.955G= (p.Gly319=) c.787G= (p.Gly263=) c.1843G= (p.Gly615=) | |
| 17 | g.42543792G>T | CA8577091 | NAGLU | c.1786G>T (p.Gly596Cys) c.1124G>T (n.1124G>T) c.955G>T (p.Gly319Cys) c.787G>T (p.Gly263Cys) c.1843G>T (p.Gly615Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42543793G>A | CA399604880 | NAGLU | c.1787G>A (p.Gly596Asp) c.1125G>A (n.1125G>A) c.956G>A (p.Gly319Asp) c.788G>A (p.Gly263Asp) c.1844G>A (p.Gly615Asp) | dbSNP gnomAD v2 COSMIC |
| 17 | g.42543793G>C | CA399604881 | NAGLU | c.1787G>C (p.Gly596Ala) c.1125G>C (n.1125G>C) c.956G>C (p.Gly319Ala) c.788G>C (p.Gly263Ala) c.1844G>C (p.Gly615Ala) | |
| 17 | g.42543793G= | CA2260530461 | NAGLU | c.1787G= (p.Gly596=) c.1125G= (n.1125G=) c.956G= (p.Gly319=) c.788G= (p.Gly263=) c.1844G= (p.Gly615=) | |
| 17 | g.42543793G>T | CA399604883 | NAGLU | c.1787G>T (p.Gly596Val) c.1125G>T (n.1125G>T) c.956G>T (p.Gly319Val) c.788G>T (p.Gly263Val) c.1844G>T (p.Gly615Val) | |
| 17 | g.42543794C>A | CA500217395 | NAGLU | c.1788C>A (p.Gly596=) c.1126C>A (n.1126C>A) c.957C>A (p.Gly319=) c.789C>A (p.Gly263=) c.1845C>A (p.Gly615=) | gnomAD v4 |
| 17 | g.42543794C= | CA2260530462 | NAGLU | c.1788C= (p.Gly596=) c.1126C= (n.1126C=) c.957C= (p.Gly319=) c.789C= (p.Gly263=) c.1845C= (p.Gly615=) | |
| 17 | g.42543794C>G | CA8577093 | NAGLU | c.1788C>G (p.Gly596=) c.1126C>G (n.1126C>G) c.957C>G (p.Gly319=) c.789C>G (p.Gly263=) c.1845C>G (p.Gly615=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.42543794C>T | CA8577092 | NAGLU | c.1788C>T (p.Gly596=) c.1126C>T (n.1126C>T) c.957C>T (p.Gly319=) c.789C>T (p.Gly263=) c.1845C>T (p.Gly615=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42543795G>A | CA8577094 | NAGLU | c.1789G>A (p.Val597Ile) c.1127G>A (n.1127G>A) c.958G>A (p.Val320Ile) c.790G>A (p.Val264Ile) c.1846G>A (p.Val616Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42543795G>C | CA8577095 | NAGLU | c.1789G>C (p.Val597Leu) c.1127G>C (n.1127G>C) c.958G>C (p.Val320Leu) c.790G>C (p.Val264Leu) c.1846G>C (p.Val616Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42543795G= | CA2260530463 | NAGLU | c.1789G= (p.Val597=) c.1127G= (n.1127G=) c.958G= (p.Val320=) c.790G= (p.Val264=) c.1846G= (p.Val616=) | |
| 17 | g.42543795G>T | CA399604890 | NAGLU | c.1789G>T (p.Val597Phe) c.1127G>T (n.1127G>T) c.958G>T (p.Val320Phe) c.790G>T (p.Val264Phe) c.1846G>T (p.Val616Phe) | gnomAD v4 |
| 17 | g.42543796T>A | CA399604892 | NAGLU | c.1790T>A (p.Val597Asp) c.1128T>A (n.1128T>A) c.959T>A (p.Val320Asp) c.791T>A (p.Val264Asp) c.1847T>A (p.Val616Asp) | |
| 17 | g.42543796T>C | CA399604893 | NAGLU | c.1790T>C (p.Val597Ala) c.1128T>C (n.1128T>C) c.959T>C (p.Val320Ala) c.791T>C (p.Val264Ala) c.1847T>C (p.Val616Ala) | |
| 17 | g.42543796T>G | CA399604895 | NAGLU | c.1790T>G (p.Val597Gly) c.1128T>G (n.1128T>G) c.959T>G (p.Val320Gly) c.791T>G (p.Val264Gly) c.1847T>G (p.Val616Gly) | |
| 17 | g.42543797C>A | CA500217421 | NAGLU | c.1791C>A (p.Val597=) c.1129C>A (n.1129C>A) c.960C>A (p.Val320=) c.792C>A (p.Val264=) c.1848C>A (p.Val616=) | |
| 17 | g.42543797C>G | CA500217423 | NAGLU | c.1791C>G (p.Val597=) c.1129C>G (n.1129C>G) c.960C>G (p.Val320=) c.792C>G (p.Val264=) c.1848C>G (p.Val616=) | |
| 17 | g.42543797C>T | CA500217424 | NAGLU | c.1791C>T (p.Val597=) c.1129C>T (n.1129C>T) c.960C>T (p.Val320=) c.792C>T (p.Val264=) c.1848C>T (p.Val616=) | |
| 17 | g.42543798C>A | CA399604898 | NAGLU | c.1792C>A (p.Leu598Met) c.1130C>A (n.1130C>A) c.961C>A (p.Leu321Met) c.793C>A (p.Leu265Met) c.1849C>A (p.Leu617Met) | gnomAD v4 |
| 17 | g.42543798C>G | CA399604899 | NAGLU | c.1792C>G (p.Leu598Val) c.1130C>G (n.1130C>G) c.961C>G (p.Leu321Val) c.793C>G (p.Leu265Val) c.1849C>G (p.Leu617Val) | |
| 17 | g.42543798C>T | CA500217426 | NAGLU | c.1792C>T (p.Leu598=) c.1130C>T (n.1130C>T) c.961C>T (p.Leu321=) c.793C>T (p.Leu265=) c.1849C>T (p.Leu617=) | gnomAD v4 |
| 17 | g.42543799T>A | CA399604902 | NAGLU | c.1793T>A (p.Leu598Gln) c.1131T>A (n.1131T>A) c.962T>A (p.Leu321Gln) c.794T>A (p.Leu265Gln) c.1850T>A (p.Leu617Gln) | |
| 17 | g.42543799T>C | CA399604905 | NAGLU | c.1793T>C (p.Leu598Pro) c.1131T>C (n.1131T>C) c.962T>C (p.Leu321Pro) c.794T>C (p.Leu265Pro) c.1850T>C (p.Leu617Pro) | gnomAD v4 |
| 17 | g.42543799T>G | CA399604904 | NAGLU | c.1793T>G (p.Leu598Arg) c.1131T>G (n.1131T>G) c.962T>G (p.Leu321Arg) c.794T>G (p.Leu265Arg) c.1850T>G (p.Leu617Arg) | |
| 17 | g.42543800G>A | CA8577096 | NAGLU | c.1794G>A (p.Leu598=) c.1132G>A (n.1132G>A) c.963G>A (p.Leu321=) c.795G>A (p.Leu265=) c.1851G>A (p.Leu617=) | ClinVar dbSNP ExAC gnomAD v2 |
| 17 | g.42543800G>C | CA500217450 | NAGLU | c.1794G>C (p.Leu598=) c.1132G>C (n.1132G>C) c.963G>C (p.Leu321=) c.795G>C (p.Leu265=) c.1851G>C (p.Leu617=) | |
| 17 | g.42543800G= | CA2260530464 | NAGLU | c.1794G= (p.Leu598=) c.1132G= (n.1132G=) c.963G= (p.Leu321=) c.795G= (p.Leu265=) c.1851G= (p.Leu617=) | |
| 17 | g.42543800G>T | CA500217445 | NAGLU | c.1794G>T (p.Leu598=) c.1132G>T (n.1132G>T) c.963G>T (p.Leu321=) c.795G>T (p.Leu265=) c.1851G>T (p.Leu617=) | |
| 17 | g.42543801G>A | CA399604906 | NAGLU | c.1795G>A (p.Ala599Thr) c.1133G>A (n.1133G>A) c.964G>A (p.Ala322Thr) c.796G>A (p.Ala266Thr) c.1852G>A (p.Ala618Thr) | |
| 17 | g.42543801G>C | CA399604907 | NAGLU | c.1795G>C (p.Ala599Pro) c.1133G>C (n.1133G>C) c.964G>C (p.Ala322Pro) c.796G>C (p.Ala266Pro) c.1852G>C (p.Ala618Pro) | |
| 17 | g.42543801G>T | CA399604908 | NAGLU | c.1795G>T (p.Ala599Ser) c.1133G>T (n.1133G>T) c.964G>T (p.Ala322Ser) c.796G>T (p.Ala266Ser) c.1852G>T (p.Ala618Ser) | |
| 17 | g.42543802C>A | CA399604909 | NAGLU | c.1796C>A (p.Ala599Asp) c.1134C>A (n.1134C>A) c.965C>A (p.Ala322Asp) c.797C>A (p.Ala266Asp) c.1853C>A (p.Ala618Asp) | gnomAD v4 |
| 17 | g.42543802C= | CA2260530465 | NAGLU | c.1796C= (p.Ala599=) c.1134C= (n.1134C=) c.965C= (p.Ala322=) c.797C= (p.Ala266=) c.1853C= (p.Ala618=) | |
| 17 | g.42543802C>G | CA399604911 | NAGLU | c.1796C>G (p.Ala599Gly) c.1134C>G (n.1134C>G) c.965C>G (p.Ala322Gly) c.797C>G (p.Ala266Gly) c.1853C>G (p.Ala618Gly) | |
| 17 | g.42543802C>T | CA399604910 | NAGLU | c.1796C>T (p.Ala599Val) c.1134C>T (n.1134C>T) c.965C>T (p.Ala322Val) c.797C>T (p.Ala266Val) c.1853C>T (p.Ala618Val) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.42543803C>A | CA500217474 | NAGLU | c.1797C>A (p.Ala599=) c.1135C>A (n.1135C>A) c.966C>A (p.Ala322=) c.798C>A (p.Ala266=) c.1854C>A (p.Ala618=) | |
| 17 | g.42543803C= | CA2260530466 | NAGLU | c.1797C= (p.Ala599=) c.1135C= (n.1135C=) c.966C= (p.Ala322=) c.798C= (p.Ala266=) c.1854C= (p.Ala618=) | |
| 17 | g.42543803C>G | CA8577097 | NAGLU | c.1797C>G (p.Ala599=) c.1135C>G (n.1135C>G) c.966C>G (p.Ala322=) c.798C>G (p.Ala266=) c.1854C>G (p.Ala618=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42543803C>T | CA500217472 | NAGLU | c.1797C>T (p.Ala599=) c.1135C>T (n.1135C>T) c.966C>T (p.Ala322=) c.798C>T (p.Ala266=) c.1854C>T (p.Ala618=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.42543804T>A | CA399604912 | NAGLU | c.1798T>A (p.Tyr600Asn) c.1136T>A (n.1136T>A) c.967T>A (p.Tyr323Asn) c.799T>A (p.Tyr267Asn) c.1855T>A (p.Tyr619Asn) | |
| 17 | g.42543804T>C | CA399604913 | NAGLU | c.1798T>C (p.Tyr600His) c.1136T>C (n.1136T>C) c.967T>C (p.Tyr323His) c.799T>C (p.Tyr267His) c.1855T>C (p.Tyr619His) | |
| 17 | g.42543804T>G | CA399604914 | NAGLU | c.1798T>G (p.Tyr600Asp) c.1136T>G (n.1136T>G) c.967T>G (p.Tyr323Asp) c.799T>G (p.Tyr267Asp) c.1855T>G (p.Tyr619Asp) | |
| 17 | g.42543805A= | CA2260530467 | NAGLU | c.1799A= (p.Tyr600=) c.1137A= (n.1137A=) c.968A= (p.Tyr323=) c.800A= (p.Tyr267=) c.1856A= (p.Tyr619=) | |
| 17 | g.42543805A>C | CA399604915 | NAGLU | c.1799A>C (p.Tyr600Ser) c.1137A>C (n.1137A>C) c.968A>C (p.Tyr323Ser) c.800A>C (p.Tyr267Ser) c.1856A>C (p.Tyr619Ser) | |
| 17 | g.42543805A>G | CA399604916 | NAGLU | c.1799A>G (p.Tyr600Cys) c.1137A>G (n.1137A>G) c.968A>G (p.Tyr323Cys) c.800A>G (p.Tyr267Cys) c.1856A>G (p.Tyr619Cys) | dbSNP gnomAD v4 |
| 17 | g.42543805A>T | CA399604917 | NAGLU | c.1799A>T (p.Tyr600Phe) c.1137A>T (n.1137A>T) c.968A>T (p.Tyr323Phe) c.800A>T (p.Tyr267Phe) c.1856A>T (p.Tyr619Phe) | |
| 17 | g.42543806T>A | CA399604918 | NAGLU | c.1800T>A (p.Tyr600Ter) c.1138T>A (n.1138T>A) c.969T>A (p.Tyr323Ter) c.801T>A (p.Tyr267Ter) c.1857T>A (p.Tyr619Ter) | |
| 17 | g.42543806T>C | CA500217509 | NAGLU | c.1800T>C (p.Tyr600=) c.1138T>C (n.1138T>C) c.969T>C (p.Tyr323=) c.801T>C (p.Tyr267=) c.1857T>C (p.Tyr619=) | |
| 17 | g.42543806T>G | CA399604919 | NAGLU | c.1800T>G (p.Tyr600Ter) c.1138T>G (n.1138T>G) c.969T>G (p.Tyr323Ter) c.801T>G (p.Tyr267Ter) c.1857T>G (p.Tyr619Ter) | |
| 17 | g.42543806T= | CA2260530468 | NAGLU | c.1800T= (p.Tyr600=) c.1138T= (n.1138T=) c.969T= (p.Tyr323=) c.801T= (p.Tyr267=) c.1857T= (p.Tyr619=) | |
| 17 | g.42543807G>A | CA399604920 | NAGLU | c.1801G>A (p.Glu601Lys) c.1139G>A (n.1139G>A) c.970G>A (p.Glu324Lys) c.802G>A (p.Glu268Lys) c.1858G>A (p.Glu620Lys) | gnomAD v4 |
| 17 | g.42543807G>C | CA399604921 | NAGLU | c.1801G>C (p.Glu601Gln) c.1139G>C (n.1139G>C) c.970G>C (p.Glu324Gln) c.802G>C (p.Glu268Gln) c.1858G>C (p.Glu620Gln) | |
| 17 | g.42543807G>T | CA399604922 | NAGLU | c.1801G>T (p.Glu601Ter) c.1139G>T (n.1139G>T) c.970G>T (p.Glu324Ter) c.802G>T (p.Glu268Ter) c.1858G>T (p.Glu620Ter) | |
| 17 | g.42543809_42543826dup | CA626218629 | NAGLU | c.1803_1820dup (p.Leu606_Asp607insGluLeuLeuProAlaLeu) c.1141_1158dup (n.1141_1158dup) c.972_989dup (p.Leu329_Asp330insGluLeuLeuProAlaLeu) c.804_821dup (p.Leu273_Asp274insGluLeuLeuProAlaLeu) c.1860_1877dup (p.Leu625_Asp626insGluLeuLeuProAlaLeu) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.42543808A>C | CA399604924 | NAGLU | c.1802A>C (p.Glu601Ala) c.1140A>C (n.1140A>C) c.971A>C (p.Glu324Ala) c.803A>C (p.Glu268Ala) c.1859A>C (p.Glu620Ala) | |
| 17 | g.42543808A>G | CA399604925 | NAGLU | c.1802A>G (p.Glu601Gly) c.1140A>G (n.1140A>G) c.971A>G (p.Glu324Gly) c.803A>G (p.Glu268Gly) c.1859A>G (p.Glu620Gly) | gnomAD v4 |
| 17 | g.42543808A>T | CA399604923 | NAGLU | c.1802A>T (p.Glu601Val) c.1140A>T (n.1140A>T) c.971A>T (p.Glu324Val) c.803A>T (p.Glu268Val) c.1859A>T (p.Glu620Val) | |
| 17 | g.42543809G>A | CA8577098 | NAGLU | c.1803G>A (p.Glu601=) c.1141G>A (n.1141G>A) c.972G>A (p.Glu324=) c.804G>A (p.Glu268=) c.1860G>A (p.Glu620=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.42543809G>C | CA399604926 | NAGLU | c.1803G>C (p.Glu601Asp) c.1141G>C (n.1141G>C) c.972G>C (p.Glu324Asp) c.804G>C (p.Glu268Asp) c.1860G>C (p.Glu620Asp) | |
| 17 | g.42543809G= | CA2260530469 | NAGLU | c.1803G= (p.Glu601=) c.1141G= (n.1141G=) c.972G= (p.Glu324=) c.804G= (p.Glu268=) c.1860G= (p.Glu620=) | |
| 17 | g.42543809G>T | CA399604927 | NAGLU | c.1803G>T (p.Glu601Asp) c.1141G>T (n.1141G>T) c.972G>T (p.Glu324Asp) c.804G>T (p.Glu268Asp) c.1860G>T (p.Glu620Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.42543810C>A | CA399604928 | NAGLU | c.1804C>A (p.Leu602Met) c.1142C>A (n.1142C>A) c.973C>A (p.Leu325Met) c.805C>A (p.Leu269Met) c.1861C>A (p.Leu621Met) | ClinVar gnomAD v4 |
| 17 | g.42543810C>G | CA399604929 | NAGLU | c.1804C>G (p.Leu602Val) c.1142C>G (n.1142C>G) c.973C>G (p.Leu325Val) c.805C>G (p.Leu269Val) c.1861C>G (p.Leu621Val) | gnomAD v4 |
| 17 | g.42543810C>T | CA500217535 | NAGLU | c.1804C>T (p.Leu602=) c.1142C>T (n.1142C>T) c.973C>T (p.Leu325=) c.805C>T (p.Leu269=) c.1861C>T (p.Leu621=) | |
| 17 | g.42543811T>A | CA399604930 | NAGLU | c.1805T>A (p.Leu602Gln) c.1143T>A (n.1143T>A) c.974T>A (p.Leu325Gln) c.806T>A (p.Leu269Gln) c.1862T>A (p.Leu621Gln) | |
| 17 | g.42543811T>C | CA399604934 | NAGLU | c.1805T>C (p.Leu602Pro) c.1143T>C (n.1143T>C) c.974T>C (p.Leu325Pro) c.806T>C (p.Leu269Pro) c.1862T>C (p.Leu621Pro) | |
| 17 | g.42543811T>G | CA399604932 | NAGLU | c.1805T>G (p.Leu602Arg) c.1143T>G (n.1143T>G) c.974T>G (p.Leu325Arg) c.806T>G (p.Leu269Arg) c.1862T>G (p.Leu621Arg) | |
| 17 | g.42543812G>A | CA500217563 | NAGLU | c.1806G>A (p.Leu602=) c.1144G>A (n.1144G>A) c.975G>A (p.Leu325=) c.807G>A (p.Leu269=) c.1863G>A (p.Leu621=) | ClinVar dbSNP |
| 17 | g.42543812G>C | CA500217565 | NAGLU | c.1806G>C (p.Leu602=) c.1144G>C (n.1144G>C) c.975G>C (p.Leu325=) c.807G>C (p.Leu269=) c.1863G>C (p.Leu621=) | |
| 17 | g.42543812G>T | CA500217569 | NAGLU | c.1806G>T (p.Leu602=) c.1144G>T (n.1144G>T) c.975G>T (p.Leu325=) c.807G>T (p.Leu269=) c.1863G>T (p.Leu621=) | |
| 17 | g.42543813C>A | CA399604935 | NAGLU | c.1807C>A (p.Leu603Met) c.1145C>A (n.1145C>A) c.976C>A (p.Leu326Met) c.808C>A (p.Leu270Met) c.1864C>A (p.Leu622Met) | |
| 17 | g.42543813C>G | CA399604936 | NAGLU | c.1807C>G (p.Leu603Val) c.1145C>G (n.1145C>G) c.976C>G (p.Leu326Val) c.808C>G (p.Leu270Val) c.1864C>G (p.Leu622Val) | |
| 17 | g.42543813C>T | CA500217576 | NAGLU | c.1807C>T (p.Leu603=) c.1145C>T (n.1145C>T) c.976C>T (p.Leu326=) c.808C>T (p.Leu270=) c.1864C>T (p.Leu622=) | |
| 17 | g.42543814T>A | CA399604940 | NAGLU | c.1808T>A (p.Leu603Gln) c.1146T>A (n.1146T>A) c.977T>A (p.Leu326Gln) c.809T>A (p.Leu270Gln) c.1865T>A (p.Leu622Gln) | |
| 17 | g.42543814T>C | CA399604941 | NAGLU | c.1808T>C (p.Leu603Pro) c.1146T>C (n.1146T>C) c.977T>C (p.Leu326Pro) c.809T>C (p.Leu270Pro) c.1865T>C (p.Leu622Pro) | |
| 17 | g.42543814T>G | CA399604942 | NAGLU | c.1808T>G (p.Leu603Arg) c.1146T>G (n.1146T>G) c.977T>G (p.Leu326Arg) c.809T>G (p.Leu270Arg) c.1865T>G (p.Leu622Arg) | |
| 17 | g.42543815G>A | CA500217590 | NAGLU | c.1809G>A (p.Leu603=) c.1147G>A (n.1147G>A) c.978G>A (p.Leu326=) c.810G>A (p.Leu270=) c.1866G>A (p.Leu622=) | dbSNP gnomAD v2 |
| 17 | g.42543815G>C | CA500217593 | NAGLU | c.1809G>C (p.Leu603=) c.1147G>C (n.1147G>C) c.978G>C (p.Leu326=) c.810G>C (p.Leu270=) c.1866G>C (p.Leu622=) | |
| 17 | g.42543815G= | CA2260530470 | NAGLU | c.1809G= (p.Leu603=) c.1147G= (n.1147G=) c.978G= (p.Leu326=) c.810G= (p.Leu270=) c.1866G= (p.Leu622=) | |
| 17 | g.42543815G>T | CA500217588 | NAGLU | c.1809G>T (p.Leu603=) c.1147G>T (n.1147G>T) c.978G>T (p.Leu326=) c.810G>T (p.Leu270=) c.1866G>T (p.Leu622=) | gnomAD v4 |
| 17 | g.42543816C>A | CA399604945 | NAGLU | c.1810C>A (p.Pro604Thr) c.1148C>A (n.1148C>A) c.979C>A (p.Pro327Thr) c.811C>A (p.Pro271Thr) c.1867C>A (p.Pro623Thr) | gnomAD v4 |
| 17 | g.42543816C= | CA2260530471 | NAGLU | c.1810C= (p.Pro604=) c.1148C= (n.1148C=) c.979C= (p.Pro327=) c.811C= (p.Pro271=) c.1867C= (p.Pro623=) | |
| 17 | g.42543816C>G | CA399604947 | NAGLU | c.1810C>G (p.Pro604Ala) c.1148C>G (n.1148C>G) c.979C>G (p.Pro327Ala) c.811C>G (p.Pro271Ala) c.1867C>G (p.Pro623Ala) | |
| 17 | g.42543816C>T | CA399604948 | NAGLU | c.1810C>T (p.Pro604Ser) c.1148C>T (n.1148C>T) c.979C>T (p.Pro327Ser) c.811C>T (p.Pro271Ser) c.1867C>T (p.Pro623Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.42543817C>A | CA399604951 | NAGLU | c.1811C>A (p.Pro604Gln) c.1149C>A (n.1149C>A) c.980C>A (p.Pro327Gln) c.812C>A (p.Pro271Gln) c.1868C>A (p.Pro623Gln) | gnomAD v4 |
| 17 | g.42543817C= | CA2260530472 | NAGLU | c.1811C= (p.Pro604=) c.1149C= (n.1149C=) c.980C= (p.Pro327=) c.812C= (p.Pro271=) c.1868C= (p.Pro623=) | |
| 17 | g.42543817C>G | CA399604953 | NAGLU | c.1811C>G (p.Pro604Arg) c.1149C>G (n.1149C>G) c.980C>G (p.Pro327Arg) c.812C>G (p.Pro271Arg) c.1868C>G (p.Pro623Arg) | |
| 17 | g.42543817C>T | CA8577099 | NAGLU | c.1811C>T (p.Pro604Leu) c.1149C>T (n.1149C>T) c.980C>T (p.Pro327Leu) c.812C>T (p.Pro271Leu) c.1868C>T (p.Pro623Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42543818G>A | CA8577101 | NAGLU | c.1812G>A (p.Pro604=) c.1150G>A (n.1150G>A) c.981G>A (p.Pro327=) c.813G>A (p.Pro271=) c.1869G>A (p.Pro623=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42543818G>C | CA8577100 | NAGLU | c.1812G>C (p.Pro604=) c.1150G>C (n.1150G>C) c.981G>C (p.Pro327=) c.813G>C (p.Pro271=) c.1869G>C (p.Pro623=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.42543818G= | CA2260530473 | NAGLU | c.1812G= (p.Pro604=) c.1150G= (n.1150G=) c.981G= (p.Pro327=) c.813G= (p.Pro271=) c.1869G= (p.Pro623=) | |
| 17 | g.42543818G>T | CA500217614 | NAGLU | c.1812G>T (p.Pro604=) c.1150G>T (n.1150G>T) c.981G>T (p.Pro327=) c.813G>T (p.Pro271=) c.1869G>T (p.Pro623=) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.42543819G>A | CA399604957 | NAGLU | c.1813G>A (p.Ala605Thr) c.1151G>A (n.1151G>A) c.982G>A (p.Ala328Thr) c.814G>A (p.Ala272Thr) c.1870G>A (p.Ala624Thr) | gnomAD v4 |
| 17 | g.42543819G>C | CA399604958 | NAGLU | c.1813G>C (p.Ala605Pro) c.1151G>C (n.1151G>C) c.982G>C (p.Ala328Pro) c.814G>C (p.Ala272Pro) c.1870G>C (p.Ala624Pro) | |
| 17 | g.42543819G>T | CA399604960 | NAGLU | c.1813G>T (p.Ala605Ser) c.1151G>T (n.1151G>T) c.982G>T (p.Ala328Ser) c.814G>T (p.Ala272Ser) c.1870G>T (p.Ala624Ser) | |
| 17 | g.42543820C>A | CA399604963 | NAGLU | c.1814C>A (p.Ala605Glu) c.1152C>A (n.1152C>A) c.983C>A (p.Ala328Glu) c.815C>A (p.Ala272Glu) c.1871C>A (p.Ala624Glu) | gnomAD v4 |
| 17 | g.42543820C>G | CA399604964 | NAGLU | c.1814C>G (p.Ala605Gly) c.1152C>G (n.1152C>G) c.983C>G (p.Ala328Gly) c.815C>G (p.Ala272Gly) c.1871C>G (p.Ala624Gly) | |
| 17 | g.42543820C>T | CA399604966 | NAGLU | c.1814C>T (p.Ala605Val) c.1152C>T (n.1152C>T) c.983C>T (p.Ala328Val) c.815C>T (p.Ala272Val) c.1871C>T (p.Ala624Val) | gnomAD v4 |
| 17 | g.42543821_42543827dup | CA2573153975 | NAGLU | c.1815_1821dup (p.Glu608ThrfsTer7) c.1153_1159dup (n.1153_1159dup) c.984_990dup (p.Glu331ThrfsTer7) c.816_822dup (p.Glu275ThrfsTer7) c.1872_1878dup (p.Glu627ThrfsTer7) | ClinVar dbSNP |
| 17 | g.42543821A>C | CA500217638 | NAGLU | c.1815A>C (p.Ala605=) c.1153A>C (n.1153A>C) c.984A>C (p.Ala328=) c.816A>C (p.Ala272=) c.1872A>C (p.Ala624=) | |
| 17 | g.42543821A>G | CA500217635 | NAGLU | c.1815A>G (p.Ala605=) c.1153A>G (n.1153A>G) c.984A>G (p.Ala328=) c.816A>G (p.Ala272=) c.1872A>G (p.Ala624=) | ClinVar |
| 17 | g.42543821A>T | CA500217640 | NAGLU | c.1815A>T (p.Ala605=) c.1153A>T (n.1153A>T) c.984A>T (p.Ala328=) c.816A>T (p.Ala272=) c.1872A>T (p.Ala624=) | |
| 17 | g.42543822C>A | CA399604968 | NAGLU | c.1816C>A (p.Leu606Met) c.1154C>A (n.1154C>A) c.985C>A (p.Leu329Met) c.817C>A (p.Leu273Met) c.1873C>A (p.Leu625Met) | |
| 17 | g.42543822C>G | CA399604969 | NAGLU | c.1816C>G (p.Leu606Val) c.1154C>G (n.1154C>G) c.985C>G (p.Leu329Val) c.817C>G (p.Leu273Val) c.1873C>G (p.Leu625Val) | |
| 17 | g.42543822C>T | CA500217645 | NAGLU | c.1816C>T (p.Leu606=) c.1154C>T (n.1154C>T) c.985C>T (p.Leu329=) c.817C>T (p.Leu273=) c.1873C>T (p.Leu625=) | |
| 17 | g.42543823T>A | CA399604970 | NAGLU | c.1817T>A (p.Leu606Gln) c.1155T>A (n.1155T>A) c.986T>A (p.Leu329Gln) c.818T>A (p.Leu273Gln) c.1874T>A (p.Leu625Gln) | |
| 17 | g.42543823T>C | CA399604972 | NAGLU | c.1817T>C (p.Leu606Pro) c.1155T>C (n.1155T>C) c.986T>C (p.Leu329Pro) c.818T>C (p.Leu273Pro) c.1874T>C (p.Leu625Pro) | dbSNP gnomAD v4 |
| 17 | g.42543823T>G | CA399604974 | NAGLU | c.1817T>G (p.Leu606Arg) c.1155T>G (n.1155T>G) c.986T>G (p.Leu329Arg) c.818T>G (p.Leu273Arg) c.1874T>G (p.Leu625Arg) | |
| 17 | g.42543823T= | CA2260530474 | NAGLU | c.1817T= (p.Leu606=) c.1155T= (n.1155T=) c.986T= (p.Leu329=) c.818T= (p.Leu273=) c.1874T= (p.Leu625=) | |
| 17 | g.42543824G>A | CA500217661 | NAGLU | c.1818G>A (p.Leu606=) c.1156G>A (n.1156G>A) c.987G>A (p.Leu329=) c.819G>A (p.Leu273=) c.1875G>A (p.Leu625=) | |
| 17 | g.42543824G>C | CA500217666 | NAGLU | c.1818G>C (p.Leu606=) c.1156G>C (n.1156G>C) c.987G>C (p.Leu329=) c.819G>C (p.Leu273=) c.1875G>C (p.Leu625=) | |
| 17 | g.42543824G>T | CA500217662 | NAGLU | c.1818G>T (p.Leu606=) c.1156G>T (n.1156G>T) c.987G>T (p.Leu329=) c.819G>T (p.Leu273=) c.1875G>T (p.Leu625=) | |
| 17 | g.42543825G>A | CA399604978 | NAGLU | c.1819G>A (p.Asp607Asn) c.1157G>A (n.1157G>A) c.988G>A (p.Asp330Asn) c.820G>A (p.Asp274Asn) c.1876G>A (p.Asp626Asn) | |
| 17 | g.42543825G>C | CA399604979 | NAGLU | c.1819G>C (p.Asp607His) c.1157G>C (n.1157G>C) c.988G>C (p.Asp330His) c.820G>C (p.Asp274His) c.1876G>C (p.Asp626His) | |
| 17 | g.42543825G>T | CA399604976 | NAGLU | c.1819G>T (p.Asp607Tyr) c.1157G>T (n.1157G>T) c.988G>T (p.Asp330Tyr) c.820G>T (p.Asp274Tyr) c.1876G>T (p.Asp626Tyr) | |
| 17 | g.42543826A>C | CA399604983 | NAGLU | c.1820A>C (p.Asp607Ala) c.1158A>C (n.1158A>C) c.989A>C (p.Asp330Ala) c.821A>C (p.Asp274Ala) c.1877A>C (p.Asp626Ala) | |
| 17 | g.42543826A>G | CA399604984 | NAGLU | c.1820A>G (p.Asp607Gly) c.1158A>G (n.1158A>G) c.989A>G (p.Asp330Gly) c.821A>G (p.Asp274Gly) c.1877A>G (p.Asp626Gly) | |
| 17 | g.42543826A>T | CA399604986 | NAGLU | c.1820A>T (p.Asp607Val) c.1158A>T (n.1158A>T) c.989A>T (p.Asp330Val) c.821A>T (p.Asp274Val) c.1877A>T (p.Asp626Val) | |
| 17 | g.42543827C>A | CA399604989 | NAGLU | c.1821C>A (p.Asp607Glu) c.1159C>A (n.1159C>A) c.990C>A (p.Asp330Glu) c.822C>A (p.Asp274Glu) c.1878C>A (p.Asp626Glu) | |
| 17 | g.42543827C= | CA2260530475 | NAGLU | c.1821C= (p.Asp607=) c.1159C= (n.1159C=) c.990C= (p.Asp330=) c.822C= (p.Asp274=) c.1878C= (p.Asp626=) | |
| 17 | g.42543827C>G | CA399604990 | NAGLU | c.1821C>G (p.Asp607Glu) c.1159C>G (n.1159C>G) c.990C>G (p.Asp330Glu) c.822C>G (p.Asp274Glu) c.1878C>G (p.Asp626Glu) | gnomAD v4 |
| 17 | g.42543827C>T | CA8577102 | NAGLU | c.1821C>T (p.Asp607=) c.1159C>T (n.1159C>T) c.990C>T (p.Asp330=) c.822C>T (p.Asp274=) c.1878C>T (p.Asp626=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 17 | g.42543828G>A | CA8577103 | NAGLU | c.1822G>A (p.Glu608Lys) c.1160G>A (n.1160G>A) c.991G>A (p.Glu331Lys) c.823G>A (p.Glu275Lys) c.1879G>A (p.Glu627Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.42543828G>C | CA399604993 | NAGLU | c.1822G>C (p.Glu608Gln) c.1160G>C (n.1160G>C) c.991G>C (p.Glu331Gln) c.823G>C (p.Glu275Gln) c.1879G>C (p.Glu627Gln) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.42543828G= | CA2260530476 | NAGLU | c.1822G= (p.Glu608=) c.1160G= (n.1160G=) c.991G= (p.Glu331=) c.823G= (p.Glu275=) c.1879G= (p.Glu627=) | |
| 17 | g.42543828G>T | CA399604995 | NAGLU | c.1822G>T (p.Glu608Ter) c.1160G>T (n.1160G>T) c.991G>T (p.Glu331Ter) c.823G>T (p.Glu275Ter) c.1879G>T (p.Glu627Ter) | dbSNP gnomAD v4 |
| 17 | g.42543829A>C | CA399604998 | NAGLU | c.1823A>C (p.Glu608Ala) c.1161A>C (n.1161A>C) c.992A>C (p.Glu331Ala) c.824A>C (p.Glu275Ala) c.1880A>C (p.Glu627Ala) | |
| 17 | g.42543829A>G | CA399604999 | NAGLU | c.1823A>G (p.Glu608Gly) c.1161A>G (n.1161A>G) c.992A>G (p.Glu331Gly) c.824A>G (p.Glu275Gly) c.1880A>G (p.Glu627Gly) | |
| 17 | g.42543829A>T | CA399605001 | NAGLU | c.1823A>T (p.Glu608Val) c.1161A>T (n.1161A>T) c.992A>T (p.Glu331Val) c.824A>T (p.Glu275Val) c.1880A>T (p.Glu627Val) | |
| 17 | g.42543830G>A | CA500217716 | NAGLU | c.1824G>A (p.Glu608=) c.1162G>A (n.1162G>A) c.993G>A (p.Glu331=) c.825G>A (p.Glu275=) c.1881G>A (p.Glu627=) | ClinVar |
| 17 | g.42543830G>C | CA399605003 | NAGLU | c.1824G>C (p.Glu608Asp) c.1162G>C (n.1162G>C) c.993G>C (p.Glu331Asp) c.825G>C (p.Glu275Asp) c.1881G>C (p.Glu627Asp) | |
| 17 | g.42543830G>T | CA399605005 | NAGLU | c.1824G>T (p.Glu608Asp) c.1162G>T (n.1162G>T) c.993G>T (p.Glu331Asp) c.825G>T (p.Glu275Asp) c.1881G>T (p.Glu627Asp) | |
| 17 | g.42543831G>A | CA399605007 | NAGLU | c.1825G>A (p.Val609Met) c.1163G>A (n.1163G>A) c.994G>A (p.Val332Met) c.826G>A (p.Val276Met) c.1882G>A (p.Val628Met) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.42543831G>C | CA399605010 | NAGLU | c.1825G>C (p.Val609Leu) c.1163G>C (n.1163G>C) c.994G>C (p.Val332Leu) c.826G>C (p.Val276Leu) c.1882G>C (p.Val628Leu) | |
| 17 | g.42543831G= | CA2260530477 | NAGLU | c.1825G= (p.Val609=) c.1163G= (n.1163G=) c.994G= (p.Val332=) c.826G= (p.Val276=) c.1882G= (p.Val628=) | |
| 17 | g.42543831G>T | CA399605009 | NAGLU | c.1825G>T (p.Val609Leu) c.1163G>T (n.1163G>T) c.994G>T (p.Val332Leu) c.826G>T (p.Val276Leu) c.1882G>T (p.Val628Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.42543832T>A | CA399605011 | NAGLU | c.1826T>A (p.Val609Glu) c.1164T>A (n.1164T>A) c.995T>A (p.Val332Glu) c.827T>A (p.Val276Glu) c.1883T>A (p.Val628Glu) | |
| 17 | g.42543832T>C | CA399605013 | NAGLU | c.1826T>C (p.Val609Ala) c.1164T>C (n.1164T>C) c.995T>C (p.Val332Ala) c.827T>C (p.Val276Ala) c.1883T>C (p.Val628Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.42543832T>G | CA399605015 | NAGLU | c.1826T>G (p.Val609Gly) c.1164T>G (n.1164T>G) c.995T>G (p.Val332Gly) c.827T>G (p.Val276Gly) c.1883T>G (p.Val628Gly) | gnomAD v4 |
| 17 | g.42543832T= | CA2260530478 | NAGLU | c.1826T= (p.Val609=) c.1164T= (n.1164T=) c.995T= (p.Val332=) c.827T= (p.Val276=) c.1883T= (p.Val628=) | |
| 17 | g.42543833G>A | CA500217751 | NAGLU | c.1827G>A (p.Val609=) c.1165G>A (n.1165G>A) c.996G>A (p.Val332=) c.828G>A (p.Val276=) c.1884G>A (p.Val628=) | gnomAD v4 |
| 17 | g.42543833G>C | CA500217742 | NAGLU | c.1827G>C (p.Val609=) c.1165G>C (n.1165G>C) c.996G>C (p.Val332=) c.828G>C (p.Val276=) c.1884G>C (p.Val628=) | |
| 17 | g.42543833G>T | CA500217749 | NAGLU | c.1827G>T (p.Val609=) c.1165G>T (n.1165G>T) c.996G>T (p.Val332=) c.828G>T (p.Val276=) c.1884G>T (p.Val628=) | |
| 17 | g.42543834C>A | CA399605017 | NAGLU | c.1828C>A (p.Leu610Met) c.1166C>A (n.1166C>A) c.997C>A (p.Leu333Met) c.829C>A (p.Leu277Met) c.1885C>A (p.Leu629Met) | ClinVar dbSNP gnomAD v2 |
| 17 | g.42543834C= | CA2260530479 | NAGLU | c.1828C= (p.Leu610=) c.1166C= (n.1166C=) c.997C= (p.Leu333=) c.829C= (p.Leu277=) c.1885C= (p.Leu629=) | |
| 17 | g.42543834C>G | CA399605019 | NAGLU | c.1828C>G (p.Leu610Val) c.1166C>G (n.1166C>G) c.997C>G (p.Leu333Val) c.829C>G (p.Leu277Val) c.1885C>G (p.Leu629Val) | |
| 17 | g.42543834C>T | CA500217757 | NAGLU | c.1828C>T (p.Leu610=) c.1166C>T (n.1166C>T) c.997C>T (p.Leu333=) c.829C>T (p.Leu277=) c.1885C>T (p.Leu629=) | ClinVar dbSNP gnomAD v4 |
| 17 | g.42543835T>A | CA399605021 | NAGLU | c.1829T>A (p.Leu610Gln) c.1167T>A (n.1167T>A) c.998T>A (p.Leu333Gln) c.830T>A (p.Leu277Gln) c.1886T>A (p.Leu629Gln) | |
| 17 | g.42543835T>C | CA399605023 | NAGLU | c.1829T>C (p.Leu610Pro) c.1167T>C (n.1167T>C) c.998T>C (p.Leu333Pro) c.830T>C (p.Leu277Pro) c.1886T>C (p.Leu629Pro) | |
| 17 | g.42543835T>G | CA399605025 | NAGLU | c.1829T>G (p.Leu610Arg) c.1167T>G (n.1167T>G) c.998T>G (p.Leu333Arg) c.830T>G (p.Leu277Arg) c.1886T>G (p.Leu629Arg) | |
| 17 | g.42543836G>A | CA500217771 | NAGLU | c.1830G>A (p.Leu610=) c.1168G>A (n.1168G>A) c.999G>A (p.Leu333=) c.831G>A (p.Leu277=) c.1887G>A (p.Leu629=) | |
| 17 | g.42543836G>C | CA500217774 | NAGLU | c.1830G>C (p.Leu610=) c.1168G>C (n.1168G>C) c.999G>C (p.Leu333=) c.831G>C (p.Leu277=) c.1887G>C (p.Leu629=) | |
| 17 | g.42543836G>T | CA500217778 | NAGLU | c.1830G>T (p.Leu610=) c.1168G>T (n.1168G>T) c.999G>T (p.Leu333=) c.831G>T (p.Leu277=) c.1887G>T (p.Leu629=) | gnomAD v4 |
| 17 | g.42543837G>A | CA399605027 | NAGLU | c.1831G>A (p.Ala611Thr) c.1169G>A (n.1169G>A) c.1000G>A (p.Ala334Thr) c.832G>A (p.Ala278Thr) c.1888G>A (p.Ala630Thr) | dbSNP |
| 17 | g.42543837G>C | CA399605028 | NAGLU | c.1831G>C (p.Ala611Pro) c.1169G>C (n.1169G>C) c.1000G>C (p.Ala334Pro) c.832G>C (p.Ala278Pro) c.1888G>C (p.Ala630Pro) | |
| 17 | g.42543837G= | CA2260530480 | NAGLU | c.1831G= (p.Ala611=) c.1169G= (n.1169G=) c.1000G= (p.Ala334=) c.832G= (p.Ala278=) c.1888G= (p.Ala630=) | |
| 17 | g.42543837G>T | CA399605030 | NAGLU | c.1831G>T (p.Ala611Ser) c.1169G>T (n.1169G>T) c.1000G>T (p.Ala334Ser) c.832G>T (p.Ala278Ser) c.1888G>T (p.Ala630Ser) | |
| 17 | g.42543838C>A | CA399605034 | NAGLU | c.1832C>A (p.Ala611Asp) c.1170C>A (n.1170C>A) c.1001C>A (p.Ala334Asp) c.833C>A (p.Ala278Asp) c.1889C>A (p.Ala630Asp) | gnomAD v4 |
| 17 | g.42543838C>G | CA399605033 | NAGLU | c.1832C>G (p.Ala611Gly) c.1170C>G (n.1170C>G) c.1001C>G (p.Ala334Gly) c.833C>G (p.Ala278Gly) c.1889C>G (p.Ala630Gly) | |
| 17 | g.42543838C>T | CA399605032 | NAGLU | c.1832C>T (p.Ala611Val) c.1170C>T (n.1170C>T) c.1001C>T (p.Ala334Val) c.833C>T (p.Ala278Val) c.1889C>T (p.Ala630Val) | |
| 17 | g.42543839T>A | CA500217803 | NAGLU | c.1833T>A (p.Ala611=) c.1171T>A (n.1171T>A) c.1002T>A (p.Ala334=) c.834T>A (p.Ala278=) c.1890T>A (p.Ala630=) | |
| 17 | g.42543839T>C | CA500217799 | NAGLU | c.1833T>C (p.Ala611=) c.1171T>C (n.1171T>C) c.1002T>C (p.Ala334=) c.834T>C (p.Ala278=) c.1890T>C (p.Ala630=) | |
| 17 | g.42543839T>G | CA500217796 | NAGLU | c.1833T>G (p.Ala611=) c.1171T>G (n.1171T>G) c.1002T>G (p.Ala334=) c.834T>G (p.Ala278=) c.1890T>G (p.Ala630=) | ClinVar |
| 17 | g.42543840A= | CA2260530481 | NAGLU | c.1834A= (p.Ser612=) c.1172A= (n.1172A=) c.1003A= (p.Ser335=) c.835A= (p.Ser279=) c.1891A= (p.Ser631=) | |
| 17 | g.42543840A>C | CA399605036 | NAGLU | c.1834A>C (p.Ser612Arg) c.1172A>C (n.1172A>C) c.1003A>C (p.Ser335Arg) c.835A>C (p.Ser279Arg) c.1891A>C (p.Ser631Arg) | |
| 17 | g.42543840A>G | CA8577104 | NAGLU | c.1834A>G (p.Ser612Gly) c.1172A>G (n.1172A>G) c.1003A>G (p.Ser335Gly) c.835A>G (p.Ser279Gly) c.1891A>G (p.Ser631Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42543840A>T | CA399605038 | NAGLU | c.1834A>T (p.Ser612Cys) c.1172A>T (n.1172A>T) c.1003A>T (p.Ser335Cys) c.835A>T (p.Ser279Cys) c.1891A>T (p.Ser631Cys) | |
| 17 | g.42543841G>A | CA399605041 | NAGLU | c.1835G>A (p.Ser612Asn) c.1173G>A (n.1173G>A) c.1004G>A (p.Ser335Asn) c.836G>A (p.Ser279Asn) c.1892G>A (p.Ser631Asn) | |
| 17 | g.42543841G>C | CA399605042 | NAGLU | c.1835G>C (p.Ser612Thr) c.1173G>C (n.1173G>C) c.1004G>C (p.Ser335Thr) c.836G>C (p.Ser279Thr) c.1892G>C (p.Ser631Thr) | |
| 17 | g.42543841G>T | CA399605044 | NAGLU | c.1835G>T (p.Ser612Ile) c.1173G>T (n.1173G>T) c.1004G>T (p.Ser335Ile) c.836G>T (p.Ser279Ile) c.1892G>T (p.Ser631Ile) | |
| 17 | g.42543842T>A | CA399605046 | NAGLU | c.1836T>A (p.Ser612Arg) c.1174T>A (n.1174T>A) c.1005T>A (p.Ser335Arg) c.837T>A (p.Ser279Arg) c.1893T>A (p.Ser631Arg) | |
| 17 | g.42543842T>C | CA500217833 | NAGLU | c.1836T>C (p.Ser612=) c.1174T>C (n.1174T>C) c.1005T>C (p.Ser335=) c.837T>C (p.Ser279=) c.1893T>C (p.Ser631=) | |
| 17 | g.42543842T>G | CA399605048 | NAGLU | c.1836T>G (p.Ser612Arg) c.1174T>G (n.1174T>G) c.1005T>G (p.Ser335Arg) c.837T>G (p.Ser279Arg) c.1893T>G (p.Ser631Arg) | |
| 17 | g.42543843G>A | CA399605049 | NAGLU | c.1837G>A (p.Asp613Asn) c.1175G>A (n.1175G>A) c.1006G>A (p.Asp336Asn) c.838G>A (p.Asp280Asn) c.1894G>A (p.Asp632Asn) | |
| 17 | g.42543843G>C | CA399605050 | NAGLU | c.1837G>C (p.Asp613His) c.1175G>C (n.1175G>C) c.1006G>C (p.Asp336His) c.838G>C (p.Asp280His) c.1894G>C (p.Asp632His) | |
| 17 | g.42543843G>T | CA399605052 | NAGLU | c.1837G>T (p.Asp613Tyr) c.1175G>T (n.1175G>T) c.1006G>T (p.Asp336Tyr) c.838G>T (p.Asp280Tyr) c.1894G>T (p.Asp632Tyr) | gnomAD v4 |
| 17 | g.42543844A= | CA2260530482 | NAGLU | c.1838A= (p.Asp613=) c.1176A= (n.1176A=) c.1007A= (p.Asp336=) c.839A= (p.Asp280=) c.1895A= (p.Asp632=) | |
| 17 | g.42543844A>C | CA399605054 | NAGLU | c.1838A>C (p.Asp613Ala) c.1176A>C (n.1176A>C) c.1007A>C (p.Asp336Ala) c.839A>C (p.Asp280Ala) c.1895A>C (p.Asp632Ala) | dbSNP |
| 17 | g.42543844A>G | CA399605056 | NAGLU | c.1838A>G (p.Asp613Gly) c.1176A>G (n.1176A>G) c.1007A>G (p.Asp336Gly) c.839A>G (p.Asp280Gly) c.1895A>G (p.Asp632Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.42543844A>T | CA399605058 | NAGLU | c.1838A>T (p.Asp613Val) c.1176A>T (n.1176A>T) c.1007A>T (p.Asp336Val) c.839A>T (p.Asp280Val) c.1895A>T (p.Asp632Val) | |
| 17 | g.42543845C>A | CA399605063 | NAGLU | c.1839C>A (p.Asp613Glu) c.1177C>A (n.1177C>A) c.1008C>A (p.Asp336Glu) c.840C>A (p.Asp280Glu) c.1896C>A (p.Asp632Glu) | |
| 17 | g.42543845C= | CA2260530483 | NAGLU | c.1839C= (p.Asp613=) c.1177C= (n.1177C=) c.1008C= (p.Asp336=) c.840C= (p.Asp280=) c.1896C= (p.Asp632=) | |
| 17 | g.42543845C>G | CA399605060 | NAGLU | c.1839C>G (p.Asp613Glu) c.1177C>G (n.1177C>G) c.1008C>G (p.Asp336Glu) c.840C>G (p.Asp280Glu) c.1896C>G (p.Asp632Glu) | |
| 17 | g.42543845C>T | CA8577105 | NAGLU | c.1839C>T (p.Asp613=) c.1177C>T (n.1177C>T) c.1008C>T (p.Asp336=) c.840C>T (p.Asp280=) c.1896C>T (p.Asp632=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42543846A>C | CA399605065 | NAGLU | c.1840A>C (p.Ser614Arg) c.1178A>C (n.1178A>C) c.1009A>C (p.Ser337Arg) c.841A>C (p.Ser281Arg) c.1897A>C (p.Ser633Arg) | |
| 17 | g.42543846A>G | CA399605067 | NAGLU | c.1840A>G (p.Ser614Gly) c.1178A>G (n.1178A>G) c.1009A>G (p.Ser337Gly) c.841A>G (p.Ser281Gly) c.1897A>G (p.Ser633Gly) | |
| 17 | g.42543846A>T | CA399605069 | NAGLU | c.1840A>T (p.Ser614Cys) c.1178A>T (n.1178A>T) c.1009A>T (p.Ser337Cys) c.841A>T (p.Ser281Cys) c.1897A>T (p.Ser633Cys) | |
| 17 | g.42543847G>A | CA399605071 | NAGLU | c.1841G>A (p.Ser614Asn) c.1179G>A (n.1179G>A) c.1010G>A (p.Ser337Asn) c.842G>A (p.Ser281Asn) c.1898G>A (p.Ser633Asn) | |
| 17 | g.42543847G>C | CA399605072 | NAGLU | c.1841G>C (p.Ser614Thr) c.1179G>C (n.1179G>C) c.1010G>C (p.Ser337Thr) c.842G>C (p.Ser281Thr) c.1898G>C (p.Ser633Thr) | |
| 17 | g.42543847G>T | CA399605075 | NAGLU | c.1841G>T (p.Ser614Ile) c.1179G>T (n.1179G>T) c.1010G>T (p.Ser337Ile) c.842G>T (p.Ser281Ile) c.1898G>T (p.Ser633Ile) | |
| 17 | g.42543848C>A | CA399605078 | NAGLU | c.1842C>A (p.Ser614Arg) c.1180C>A (n.1180C>A) c.1011C>A (p.Ser337Arg) c.843C>A (p.Ser281Arg) c.1899C>A (p.Ser633Arg) | |
| 17 | g.42543848C= | CA2260530484 | NAGLU | c.1842C= (p.Ser614=) c.1180C= (n.1180C=) c.1011C= (p.Ser337=) c.843C= (p.Ser281=) c.1899C= (p.Ser633=) | |
| 17 | g.42543848C>G | CA399605081 | NAGLU | c.1842C>G (p.Ser614Arg) c.1180C>G (n.1180C>G) c.1011C>G (p.Ser337Arg) c.843C>G (p.Ser281Arg) c.1899C>G (p.Ser633Arg) | |
| 17 | g.42543848C>T | CA500217883 | NAGLU | c.1842C>T (p.Ser614=) c.1180C>T (n.1180C>T) c.1011C>T (p.Ser337=) c.843C>T (p.Ser281=) c.1899C>T (p.Ser633=) | ClinVar dbSNP gnomAD v4 COSMIC |
| 17 | g.42543849C>A | CA399605084 | NAGLU | c.1843C>A (p.Arg615Ser) c.1181C>A (n.1181C>A) c.1012C>A (p.Arg338Ser) c.844C>A (p.Arg282Ser) c.1900C>A (p.Arg634Ser) | gnomAD v4 |
| 17 | g.42543849C= | CA2260530485 | NAGLU | c.1843C= (p.Arg615=) c.1181C= (n.1181C=) c.1012C= (p.Arg338=) c.844C= (p.Arg282=) c.1900C= (p.Arg634=) | |
| 17 | g.42543849C>G | CA399605087 | NAGLU | c.1843C>G (p.Arg615Gly) c.1181C>G (n.1181C>G) c.1012C>G (p.Arg338Gly) c.844C>G (p.Arg282Gly) c.1900C>G (p.Arg634Gly) | gnomAD v4 |
| 17 | g.42543849C>T | CA8577106 | NAGLU | c.1843C>T (p.Arg615Cys) c.1181C>T (n.1181C>T) c.1012C>T (p.Arg338Cys) c.844C>T (p.Arg282Cys) c.1900C>T (p.Arg634Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42543850G>A | CA290781065 | NAGLU | c.1844G>A (p.Arg615His) c.1182G>A (n.1182G>A) c.1013G>A (p.Arg338His) c.845G>A (p.Arg282His) c.1901G>A (p.Arg634His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42543850G>C | CA399605097 | NAGLU | c.1844G>C (p.Arg615Pro) c.1182G>C (n.1182G>C) c.1013G>C (p.Arg338Pro) c.845G>C (p.Arg282Pro) c.1901G>C (p.Arg634Pro) | |
| 17 | g.42543850G= | CA2260530486 | NAGLU | c.1844G= (p.Arg615=) c.1182G= (n.1182G=) c.1013G= (p.Arg338=) c.845G= (p.Arg282=) c.1901G= (p.Arg634=) | |
| 17 | g.42543850G>T | CA399605096 | NAGLU | c.1844G>T (p.Arg615Leu) c.1182G>T (n.1182G>T) c.1013G>T (p.Arg338Leu) c.845G>T (p.Arg282Leu) c.1901G>T (p.Arg634Leu) | gnomAD v4 |
| 17 | g.42543851C>A | CA500217914 | NAGLU | c.1845C>A (p.Arg615=) c.1183C>A (n.1183C>A) c.1014C>A (p.Arg338=) c.846C>A (p.Arg282=) c.1902C>A (p.Arg634=) | |
| 17 | g.42543851C= | CA2260530487 | NAGLU | c.1845C= (p.Arg615=) c.1183C= (n.1183C=) c.1014C= (p.Arg338=) c.846C= (p.Arg282=) c.1902C= (p.Arg634=) | |
| 17 | g.42543851C>G | CA500217908 | NAGLU | c.1845C>G (p.Arg615=) c.1183C>G (n.1183C>G) c.1014C>G (p.Arg338=) c.846C>G (p.Arg282=) c.1902C>G (p.Arg634=) | |
| 17 | g.42543851C>T | CA500217911 | NAGLU | c.1845C>T (p.Arg615=) c.1183C>T (n.1183C>T) c.1014C>T (p.Arg338=) c.846C>T (p.Arg282=) c.1902C>T (p.Arg634=) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.42543852T>A | CA399605099 | NAGLU | c.1846T>A (p.Phe616Ile) c.1184T>A (n.1184T>A) c.1015T>A (p.Phe339Ile) c.847T>A (p.Phe283Ile) c.1903T>A (p.Phe635Ile) | |
| 17 | g.42543852T>C | CA399605100 | NAGLU | c.1846T>C (p.Phe616Leu) c.1184T>C (n.1184T>C) c.1015T>C (p.Phe339Leu) c.847T>C (p.Phe283Leu) c.1903T>C (p.Phe635Leu) | |
| 17 | g.42543852T>G | CA399605103 | NAGLU | c.1846T>G (p.Phe616Val) c.1184T>G (n.1184T>G) c.1015T>G (p.Phe339Val) c.847T>G (p.Phe283Val) c.1903T>G (p.Phe635Val) | |
| 17 | g.42543853del | CA2637971661 | NAGLU | c.1847del (p.Phe616SerfsTer7) c.1185del (n.1185del) c.1016del (p.Phe339SerfsTer7) c.848del (p.Phe283SerfsTer7) c.1904del (p.Phe635SerfsTer7) | gnomAD v4 |
| 17 | g.42543853T>A | CA399605105 | NAGLU | c.1847T>A (p.Phe616Tyr) c.1185T>A (n.1185T>A) c.1016T>A (p.Phe339Tyr) c.848T>A (p.Phe283Tyr) c.1904T>A (p.Phe635Tyr) | |
| 17 | g.42543853T>C | CA399605107 | NAGLU | c.1847T>C (p.Phe616Ser) c.1185T>C (n.1185T>C) c.1016T>C (p.Phe339Ser) c.848T>C (p.Phe283Ser) c.1904T>C (p.Phe635Ser) | |
| 17 | g.42543853T>G | CA399605110 | NAGLU | c.1847T>G (p.Phe616Cys) c.1185T>G (n.1185T>G) c.1016T>G (p.Phe339Cys) c.848T>G (p.Phe283Cys) c.1904T>G (p.Phe635Cys) | |
| 17 | g.42543854C>A | CA399605112 | NAGLU | c.1848C>A (p.Phe616Leu) c.1186C>A (n.1186C>A) c.1017C>A (p.Phe339Leu) c.849C>A (p.Phe283Leu) c.1905C>A (p.Phe635Leu) | gnomAD v4 |
| 17 | g.42543854C>G | CA399605115 | NAGLU | c.1848C>G (p.Phe616Leu) c.1186C>G (n.1186C>G) c.1017C>G (p.Phe339Leu) c.849C>G (p.Phe283Leu) c.1905C>G (p.Phe635Leu) | |
| 17 | g.42543854C>T | CA500217932 | NAGLU | c.1848C>T (p.Phe616=) c.1186C>T (n.1186C>T) c.1017C>T (p.Phe339=) c.849C>T (p.Phe283=) c.1905C>T (p.Phe635=) | COSMIC |
| 17 | g.42543855T>A | CA399605119 | NAGLU | c.1849T>A (p.Leu617Met) c.1187T>A (n.1187T>A) c.1018T>A (p.Leu340Met) c.850T>A (p.Leu284Met) c.1906T>A (p.Leu636Met) | |
| 17 | g.42543855T>C | CA500217945 | NAGLU | c.1849T>C (p.Leu617=) c.1187T>C (n.1187T>C) c.1018T>C (p.Leu340=) c.850T>C (p.Leu284=) c.1906T>C (p.Leu636=) | |
| 17 | g.42543855T>G | CA399605120 | NAGLU | c.1849T>G (p.Leu617Val) c.1187T>G (n.1187T>G) c.1018T>G (p.Leu340Val) c.850T>G (p.Leu284Val) c.1906T>G (p.Leu636Val) | |
| 17 | g.42543856T>A | CA399605123 | NAGLU | c.1850T>A (p.Leu617Ter) c.1188T>A (n.1188T>A) c.1019T>A (p.Leu340Ter) c.851T>A (p.Leu284Ter) c.1907T>A (p.Leu636Ter) | |
| 17 | g.42543856T>C | CA399605124 | NAGLU | c.1850T>C (p.Leu617Ser) c.1188T>C (n.1188T>C) c.1019T>C (p.Leu340Ser) c.851T>C (p.Leu284Ser) c.1907T>C (p.Leu636Ser) | |
| 17 | g.42543856T>G | CA399605127 | NAGLU | c.1850T>G (p.Leu617Trp) c.1188T>G (n.1188T>G) c.1019T>G (p.Leu340Trp) c.851T>G (p.Leu284Trp) c.1907T>G (p.Leu636Trp) | |
| 17 | g.42543857G>A | CA500217957 | NAGLU | c.1851G>A (p.Leu617=) c.1189G>A (n.1189G>A) c.1020G>A (p.Leu340=) c.852G>A (p.Leu284=) c.1908G>A (p.Leu636=) | gnomAD v4 |
| 17 | g.42543857G>C | CA399605132 | NAGLU | c.1851G>C (p.Leu617Phe) c.1189G>C (n.1189G>C) c.1020G>C (p.Leu340Phe) c.852G>C (p.Leu284Phe) c.1908G>C (p.Leu636Phe) | |
| 17 | g.42543857G= | CA2260530488 | NAGLU | c.1851G= (p.Leu617=) c.1189G= (n.1189G=) c.1020G= (p.Leu340=) c.852G= (p.Leu284=) c.1908G= (p.Leu636=) | |
| 17 | g.42543857G>T | CA399605130 | NAGLU | c.1851G>T (p.Leu617Phe) c.1189G>T (n.1189G>T) c.1020G>T (p.Leu340Phe) c.852G>T (p.Leu284Phe) c.1908G>T (p.Leu636Phe) | ClinVar dbSNP gnomAD v4 |
| 17 | g.42543858C>A | CA399605136 | NAGLU | c.1852C>A (p.Leu618Met) c.1190C>A (n.1190C>A) c.1021C>A (p.Leu341Met) c.853C>A (p.Leu285Met) c.1909C>A (p.Leu637Met) | gnomAD v4 |
| 17 | g.42543858C>G | CA399605138 | NAGLU | c.1852C>G (p.Leu618Val) c.1190C>G (n.1190C>G) c.1021C>G (p.Leu341Val) c.853C>G (p.Leu285Val) c.1909C>G (p.Leu637Val) | |
| 17 | g.42543858C>T | CA500217962 | NAGLU | c.1852C>T (p.Leu618=) c.1190C>T (n.1190C>T) c.1021C>T (p.Leu341=) c.853C>T (p.Leu285=) c.1909C>T (p.Leu637=) | ClinVar gnomAD v4 |
| 17 | g.42543859T>A | CA399605142 | NAGLU | c.1853T>A (p.Leu618Gln) c.1191T>A (n.1191T>A) c.1022T>A (p.Leu341Gln) c.854T>A (p.Leu285Gln) c.1910T>A (p.Leu637Gln) | |
| 17 | g.42543859T>C | CA399605145 | NAGLU | c.1853T>C (p.Leu618Pro) c.1191T>C (n.1191T>C) c.1022T>C (p.Leu341Pro) c.854T>C (p.Leu285Pro) c.1910T>C (p.Leu637Pro) | ClinVar dbSNP gnomAD v4 |
| 17 | g.42543859T>G | CA399605148 | NAGLU | c.1853T>G (p.Leu618Arg) c.1191T>G (n.1191T>G) c.1022T>G (p.Leu341Arg) c.854T>G (p.Leu285Arg) c.1910T>G (p.Leu637Arg) | |
| 17 | g.42543860G>A | CA500217990 | NAGLU | c.1854G>A (p.Leu618=) c.1192G>A (n.1192G>A) c.1023G>A (p.Leu341=) c.855G>A (p.Leu285=) c.1911G>A (p.Leu637=) | |
| 17 | g.42543860G>C | CA500217995 | NAGLU | c.1854G>C (p.Leu618=) c.1192G>C (n.1192G>C) c.1023G>C (p.Leu341=) c.855G>C (p.Leu285=) c.1911G>C (p.Leu637=) | |
| 17 | g.42543860G>T | CA500217992 | NAGLU | c.1854G>T (p.Leu618=) c.1192G>T (n.1192G>T) c.1023G>T (p.Leu341=) c.855G>T (p.Leu285=) c.1911G>T (p.Leu637=) | gnomAD v4 |
| 17 | g.42543861G>A | CA399605151 | NAGLU | c.1855G>A (p.Gly619Ser) c.1193G>A (n.1193G>A) c.1024G>A (p.Gly342Ser) c.856G>A (p.Gly286Ser) c.1912G>A (p.Gly638Ser) | gnomAD v4 |
| 17 | g.42543861G>C | CA399605156 | NAGLU | c.1855G>C (p.Gly619Arg) c.1193G>C (n.1193G>C) c.1024G>C (p.Gly342Arg) c.856G>C (p.Gly286Arg) c.1912G>C (p.Gly638Arg) | |
| 17 | g.42543861G>T | CA399605158 | NAGLU | c.1855G>T (p.Gly619Cys) c.1193G>T (n.1193G>T) c.1024G>T (p.Gly342Cys) c.856G>T (p.Gly286Cys) c.1912G>T (p.Gly638Cys) | |
| 17 | g.42543862G>A | CA399605160 | NAGLU | c.1856G>A (p.Gly619Asp) c.1194G>A (n.1194G>A) c.1025G>A (p.Gly342Asp) c.857G>A (p.Gly286Asp) c.1913G>A (p.Gly638Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.42543862G>C | CA399605162 | NAGLU | c.1856G>C (p.Gly619Ala) c.1194G>C (n.1194G>C) c.1025G>C (p.Gly342Ala) c.857G>C (p.Gly286Ala) c.1913G>C (p.Gly638Ala) | |
| 17 | g.42543862G= | CA2260530489 | NAGLU | c.1856G= (p.Gly619=) c.1194G= (n.1194G=) c.1025G= (p.Gly342=) c.857G= (p.Gly286=) c.1913G= (p.Gly638=) | |
| 17 | g.42543862G>T | CA399605165 | NAGLU | c.1856G>T (p.Gly619Val) c.1194G>T (n.1194G>T) c.1025G>T (p.Gly342Val) c.857G>T (p.Gly286Val) c.1913G>T (p.Gly638Val) | |
| 17 | g.42543863C>A | CA500218016 | NAGLU | c.1857C>A (p.Gly619=) c.1195C>A (n.1195C>A) c.1026C>A (p.Gly342=) c.858C>A (p.Gly286=) c.1914C>A (p.Gly638=) | gnomAD v4 |
| 17 | g.42543863C>G | CA500218008 | NAGLU | c.1857C>G (p.Gly619=) c.1195C>G (n.1195C>G) c.1026C>G (p.Gly342=) c.858C>G (p.Gly286=) c.1914C>G (p.Gly638=) | |
| 17 | g.42543863C>T | CA500218013 | NAGLU | c.1857C>T (p.Gly619=) c.1195C>T (n.1195C>T) c.1026C>T (p.Gly342=) c.858C>T (p.Gly286=) c.1914C>T (p.Gly638=) | ClinVar gnomAD v4 |
| 17 | g.42543864A= | CA2260530490 | NAGLU | c.1858A= (p.Ser620=) c.1196A= (n.1196A=) c.1027A= (p.Ser343=) c.859A= (p.Ser287=) c.1915A= (p.Ser639=) | |
| 17 | g.42543864A>C | CA399605169 | NAGLU | c.1858A>C (p.Ser620Arg) c.1196A>C (n.1196A>C) c.1027A>C (p.Ser343Arg) c.859A>C (p.Ser287Arg) c.1915A>C (p.Ser639Arg) | |
| 17 | g.42543864A>G | CA8577107 | NAGLU | c.1858A>G (p.Ser620Gly) c.1196A>G (n.1196A>G) c.1027A>G (p.Ser343Gly) c.859A>G (p.Ser287Gly) c.1915A>G (p.Ser639Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42543864A>T | CA399605175 | NAGLU | c.1858A>T (p.Ser620Cys) c.1196A>T (n.1196A>T) c.1027A>T (p.Ser343Cys) c.859A>T (p.Ser287Cys) c.1915A>T (p.Ser639Cys) | |
| 17 | g.42543865G>A | CA399605185 | NAGLU | c.1859G>A (p.Ser620Asn) c.1197G>A (n.1197G>A) c.1028G>A (p.Ser343Asn) c.860G>A (p.Ser287Asn) c.1916G>A (p.Ser639Asn) | |
| 17 | g.42543865G>C | CA399605182 | NAGLU | c.1859G>C (p.Ser620Thr) c.1197G>C (n.1197G>C) c.1028G>C (p.Ser343Thr) c.860G>C (p.Ser287Thr) c.1916G>C (p.Ser639Thr) | |
| 17 | g.42543865G>T | CA399605179 | NAGLU | c.1859G>T (p.Ser620Ile) c.1197G>T (n.1197G>T) c.1028G>T (p.Ser343Ile) c.860G>T (p.Ser287Ile) c.1916G>T (p.Ser639Ile) | gnomAD v4 |
| 17 | g.42543866C>A | CA399605189 | NAGLU | c.1860C>A (p.Ser620Arg) c.1198C>A (n.1198C>A) c.1029C>A (p.Ser343Arg) c.861C>A (p.Ser287Arg) c.1917C>A (p.Ser639Arg) | |
| 17 | g.42543866C= | CA2260530491 | NAGLU | c.1860C= (p.Ser620=) c.1198C= (n.1198C=) c.1029C= (p.Ser343=) c.861C= (p.Ser287=) c.1917C= (p.Ser639=) | |
| 17 | g.42543866C>G | CA399605188 | NAGLU | c.1860C>G (p.Ser620Arg) c.1198C>G (n.1198C>G) c.1029C>G (p.Ser343Arg) c.861C>G (p.Ser287Arg) c.1917C>G (p.Ser639Arg) | gnomAD v4 |
| 17 | g.42543866C>T | CA8577108 | NAGLU | c.1860C>T (p.Ser620=) c.1198C>T (n.1198C>T) c.1029C>T (p.Ser343=) c.861C>T (p.Ser287=) c.1917C>T (p.Ser639=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42543867T>A | CA399605199 | NAGLU | c.1861T>A (p.Trp621Arg) c.1199T>A (n.1199T>A) c.1030T>A (p.Trp344Arg) c.862T>A (p.Trp288Arg) c.1918T>A (p.Trp640Arg) | |
| 17 | g.42543867T>C | CA399605202 | NAGLU | c.1861T>C (p.Trp621Arg) c.1199T>C (n.1199T>C) c.1030T>C (p.Trp344Arg) c.862T>C (p.Trp288Arg) c.1918T>C (p.Trp640Arg) | |
| 17 | g.42543867T>G | CA399605204 | NAGLU | c.1861T>G (p.Trp621Gly) c.1199T>G (n.1199T>G) c.1030T>G (p.Trp344Gly) c.862T>G (p.Trp288Gly) c.1918T>G (p.Trp640Gly) | |
| 17 | g.42543868G>A | CA399605208 | NAGLU | c.1862G>A (p.Trp621Ter) c.1200G>A (n.1200G>A) c.1031G>A (p.Trp344Ter) c.863G>A (p.Trp288Ter) c.1919G>A (p.Trp640Ter) | gnomAD v4 |
| 17 | g.42543868G>C | CA399605210 | NAGLU | c.1862G>C (p.Trp621Ser) c.1200G>C (n.1200G>C) c.1031G>C (p.Trp344Ser) c.863G>C (p.Trp288Ser) c.1919G>C (p.Trp640Ser) | |
| 17 | g.42543868G>T | CA399605213 | NAGLU | c.1862G>T (p.Trp621Leu) c.1200G>T (n.1200G>T) c.1031G>T (p.Trp344Leu) c.863G>T (p.Trp288Leu) c.1919G>T (p.Trp640Leu) | |
| 17 | g.42543869G>A | CA399605222 | NAGLU | c.1863G>A (p.Trp621Ter) c.1201G>A (n.1201G>A) c.1032G>A (p.Trp344Ter) c.864G>A (p.Trp288Ter) c.1920G>A (p.Trp640Ter) | ClinVar dbSNP |
| 17 | g.42543869G>C | CA399605218 | NAGLU | c.1863G>C (p.Trp621Cys) c.1201G>C (n.1201G>C) c.1032G>C (p.Trp344Cys) c.864G>C (p.Trp288Cys) c.1920G>C (p.Trp640Cys) | |
| 17 | g.42543869G= | CA2260530492 | NAGLU | c.1863G= (p.Trp621=) c.1201G= (n.1201G=) c.1032G= (p.Trp344=) c.864G= (p.Trp288=) c.1920G= (p.Trp640=) | |
| 17 | g.42543869G>T | CA399605220 | NAGLU | c.1863G>T (p.Trp621Cys) c.1201G>T (n.1201G>T) c.1032G>T (p.Trp344Cys) c.864G>T (p.Trp288Cys) c.1920G>T (p.Trp640Cys) | gnomAD v4 |
| 17 | g.42543870C>A | CA399605226 | NAGLU | c.1864C>A (p.Leu622Ile) c.1202C>A (n.1202C>A) c.1033C>A (p.Leu345Ile) c.865C>A (p.Leu289Ile) c.1921C>A (p.Leu641Ile) | gnomAD v4 |
| 17 | g.42543870C>G | CA399605227 | NAGLU | c.1864C>G (p.Leu622Val) c.1202C>G (n.1202C>G) c.1033C>G (p.Leu345Val) c.865C>G (p.Leu289Val) c.1921C>G (p.Leu641Val) | ClinVar gnomAD v4 COSMIC |
| 17 | g.42543870C>T | CA500218109 | NAGLU | c.1864C>T (p.Leu622=) c.1202C>T (n.1202C>T) c.1033C>T (p.Leu345=) c.865C>T (p.Leu289=) c.1921C>T (p.Leu641=) | |
| 17 | g.42543871T>A | CA399605231 | NAGLU | c.1865T>A (p.Leu622Gln) c.1203T>A (n.1203T>A) c.1034T>A (p.Leu345Gln) c.866T>A (p.Leu289Gln) c.1922T>A (p.Leu641Gln) | |
| 17 | g.42543871T>C | CA399605233 | NAGLU | c.1865T>C (p.Leu622Pro) c.1203T>C (n.1203T>C) c.1034T>C (p.Leu345Pro) c.866T>C (p.Leu289Pro) c.1922T>C (p.Leu641Pro) | gnomAD v4 |
| 17 | g.42543871T>G | CA399605235 | NAGLU | c.1865T>G (p.Leu622Arg) c.1203T>G (n.1203T>G) c.1034T>G (p.Leu345Arg) c.866T>G (p.Leu289Arg) c.1922T>G (p.Leu641Arg) | |
| 17 | g.42543872A>C | CA500218142 | NAGLU | c.1866A>C (p.Leu622=) c.1204A>C (n.1204A>C) c.1035A>C (p.Leu345=) c.867A>C (p.Leu289=) c.1923A>C (p.Leu641=) | |
| 17 | g.42543872A>G | CA500218147 | NAGLU | c.1866A>G (p.Leu622=) c.1204A>G (n.1204A>G) c.1035A>G (p.Leu345=) c.867A>G (p.Leu289=) c.1923A>G (p.Leu641=) | gnomAD v4 |
| 17 | g.42543872A>T | CA500218145 | NAGLU | c.1866A>T (p.Leu622=) c.1204A>T (n.1204A>T) c.1035A>T (p.Leu345=) c.867A>T (p.Leu289=) c.1923A>T (p.Leu641=) | |
| 17 | g.42543874_42543875dup | CA645588249 | NAGLU | c.1868_1869dup (p.Gln624SerfsTer24) c.1206_1207dup (n.1206_1207dup) c.1037_1038dup (p.Gln347SerfsTer24) c.869_870dup (p.Gln291SerfsTer24) c.1925_1926dup (p.Gln643SerfsTer24) | COSMIC |
| 17 | g.42543873G>A | CA399605240 | NAGLU | c.1867G>A (p.Glu623Lys) c.1205G>A (n.1205G>A) c.1036G>A (p.Glu346Lys) c.868G>A (p.Glu290Lys) c.1924G>A (p.Glu642Lys) | |
| 17 | g.42543873G>C | CA399605247 | NAGLU | c.1867G>C (p.Glu623Gln) c.1205G>C (n.1205G>C) c.1036G>C (p.Glu346Gln) c.868G>C (p.Glu290Gln) c.1924G>C (p.Glu642Gln) | |
| 17 | g.42543873G>T | CA399605244 | NAGLU | c.1867G>T (p.Glu623Ter) c.1205G>T (n.1205G>T) c.1036G>T (p.Glu346Ter) c.868G>T (p.Glu290Ter) c.1924G>T (p.Glu642Ter) | gnomAD v4 |
| 17 | g.42543874A>C | CA399605250 | NAGLU | c.1868A>C (p.Glu623Ala) c.1206A>C (n.1206A>C) c.1037A>C (p.Glu346Ala) c.869A>C (p.Glu290Ala) c.1925A>C (p.Glu642Ala) | |
| 17 | g.42543874A>G | CA399605252 | NAGLU | c.1868A>G (p.Glu623Gly) c.1206A>G (n.1206A>G) c.1037A>G (p.Glu346Gly) c.869A>G (p.Glu290Gly) c.1925A>G (p.Glu642Gly) | gnomAD v4 |
| 17 | g.42543874A>T | CA399605255 | NAGLU | c.1868A>T (p.Glu623Val) c.1206A>T (n.1206A>T) c.1037A>T (p.Glu346Val) c.869A>T (p.Glu290Val) c.1925A>T (p.Glu642Val) | |
| 17 | g.42543875G>A | CA500218184 | NAGLU | c.1869G>A (p.Glu623=) c.1207G>A (n.1207G>A) c.1038G>A (p.Glu346=) c.870G>A (p.Glu290=) c.1926G>A (p.Glu642=) | ClinVar gnomAD v4 |
| 17 | g.42543875G>C | CA399605258 | NAGLU | c.1869G>C (p.Glu623Asp) c.1207G>C (n.1207G>C) c.1038G>C (p.Glu346Asp) c.870G>C (p.Glu290Asp) c.1926G>C (p.Glu642Asp) | |
| 17 | g.42543875G>T | CA399605261 | NAGLU | c.1869G>T (p.Glu623Asp) c.1207G>T (n.1207G>T) c.1038G>T (p.Glu346Asp) c.870G>T (p.Glu290Asp) c.1926G>T (p.Glu642Asp) | gnomAD v4 |
| 17 | g.42543876C>A | CA399605266 | NAGLU | c.1870C>A (p.Gln624Lys) c.1208C>A (n.1208C>A) c.1039C>A (p.Gln347Lys) c.871C>A (p.Gln291Lys) c.1927C>A (p.Gln643Lys) | gnomAD v4 |
| 17 | g.42543876C>G | CA399605269 | NAGLU | c.1870C>G (p.Gln624Glu) c.1208C>G (n.1208C>G) c.1039C>G (p.Gln347Glu) c.871C>G (p.Gln291Glu) c.1927C>G (p.Gln643Glu) | |
| 17 | g.42543876C>T | CA399605272 | NAGLU | c.1870C>T (p.Gln624Ter) c.1208C>T (n.1208C>T) c.1039C>T (p.Gln347Ter) c.871C>T (p.Gln291Ter) c.1927C>T (p.Gln643Ter) | gnomAD v4 |
| 17 | g.42543877A>C | CA399605276 | NAGLU | c.1871A>C (p.Gln624Pro) c.1209A>C (n.1209A>C) c.1040A>C (p.Gln347Pro) c.872A>C (p.Gln291Pro) c.1928A>C (p.Gln643Pro) | |
| 17 | g.42543877A>G | CA399605279 | NAGLU | c.1871A>G (p.Gln624Arg) c.1209A>G (n.1209A>G) c.1040A>G (p.Gln347Arg) c.872A>G (p.Gln291Arg) c.1928A>G (p.Gln643Arg) | |
| 17 | g.42543877A>T | CA399605282 | NAGLU | c.1871A>T (p.Gln624Leu) c.1209A>T (n.1209A>T) c.1040A>T (p.Gln347Leu) c.872A>T (p.Gln291Leu) c.1928A>T (p.Gln643Leu) | gnomAD v4 |
| 17 | g.42543878G>A | CA500218233 | NAGLU | c.1872G>A (p.Gln624=) c.1210G>A (n.1210G>A) c.1041G>A (p.Gln347=) c.873G>A (p.Gln291=) c.1929G>A (p.Gln643=) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.42543878G>C | CA399605288 | NAGLU | c.1872G>C (p.Gln624His) c.1210G>C (n.1210G>C) c.1041G>C (p.Gln347His) c.873G>C (p.Gln291His) c.1929G>C (p.Gln643His) | |
| 17 | g.42543878G= | CA2260530493 | NAGLU | c.1872G= (p.Gln624=) c.1210G= (n.1210G=) c.1041G= (p.Gln347=) c.873G= (p.Gln291=) c.1929G= (p.Gln643=) | |
| 17 | g.42543878G>T | CA399605286 | NAGLU | c.1872G>T (p.Gln624His) c.1210G>T (n.1210G>T) c.1041G>T (p.Gln347His) c.873G>T (p.Gln291His) c.1929G>T (p.Gln643His) | |
| 17 | g.42543879G>A | CA399605293 | NAGLU | c.1873G>A (p.Ala625Thr) c.1211G>A (n.1211G>A) c.1042G>A (p.Ala348Thr) c.874G>A (p.Ala292Thr) c.1930G>A (p.Ala644Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.42543879G>C | CA399605296 | NAGLU | c.1873G>C (p.Ala625Pro) c.1211G>C (n.1211G>C) c.1042G>C (p.Ala348Pro) c.874G>C (p.Ala292Pro) c.1930G>C (p.Ala644Pro) | gnomAD v4 |
| 17 | g.42543879G= | CA2260530494 | NAGLU | c.1873G= (p.Ala625=) c.1211G= (n.1211G=) c.1042G= (p.Ala348=) c.874G= (p.Ala292=) c.1930G= (p.Ala644=) | |
| 17 | g.42543879G>T | CA399605300 | NAGLU | c.1873G>T (p.Ala625Ser) c.1211G>T (n.1211G>T) c.1042G>T (p.Ala348Ser) c.874G>T (p.Ala292Ser) c.1930G>T (p.Ala644Ser) | |
| 17 | g.42543880C>A | CA399605304 | NAGLU | c.1874C>A (p.Ala625Asp) c.1212C>A (n.1212C>A) c.1043C>A (p.Ala348Asp) c.875C>A (p.Ala292Asp) c.1931C>A (p.Ala644Asp) | gnomAD v4 |
| 17 | g.42543880C>G | CA399605307 | NAGLU | c.1874C>G (p.Ala625Gly) c.1212C>G (n.1212C>G) c.1043C>G (p.Ala348Gly) c.875C>G (p.Ala292Gly) c.1931C>G (p.Ala644Gly) | |
| 17 | g.42543880C>T | CA399605309 | NAGLU | c.1874C>T (p.Ala625Val) c.1212C>T (n.1212C>T) c.1043C>T (p.Ala348Val) c.875C>T (p.Ala292Val) c.1931C>T (p.Ala644Val) | gnomAD v4 |
| 17 | g.42543881C>A | CA500218272 | NAGLU | c.1875C>A (p.Ala625=) c.1213C>A (n.1213C>A) c.1044C>A (p.Ala348=) c.876C>A (p.Ala292=) c.1932C>A (p.Ala644=) | |
| 17 | g.42543881C>G | CA500218271 | NAGLU | c.1875C>G (p.Ala625=) c.1213C>G (n.1213C>G) c.1044C>G (p.Ala348=) c.876C>G (p.Ala292=) c.1932C>G (p.Ala644=) | |
| 17 | g.42543881C>T | CA500218273 | NAGLU | c.1875C>T (p.Ala625=) c.1213C>T (n.1213C>T) c.1044C>T (p.Ala348=) c.876C>T (p.Ala292=) c.1932C>T (p.Ala644=) | |
| 17 | g.42543882C>A | CA500218278 | NAGLU | c.1876C>A (p.Arg626=) c.1214C>A (n.1214C>A) c.1045C>A (p.Arg349=) c.877C>A (p.Arg293=) c.1933C>A (p.Arg645=) | gnomAD v4 |
| 17 | g.42543882C= | CA2260530495 | NAGLU | c.1876C= (p.Arg626=) c.1214C= (n.1214C=) c.1045C= (p.Arg349=) c.877C= (p.Arg293=) c.1933C= (p.Arg645=) | |
| 17 | g.42543882C>G | CA8577109 | NAGLU | c.1876C>G (p.Arg626Gly) c.1214C>G (n.1214C>G) c.1045C>G (p.Arg349Gly) c.877C>G (p.Arg293Gly) c.1933C>G (p.Arg645Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42543882C>T | CA115043 | NAGLU | c.1876C>T (p.Arg626Ter) c.1214C>T (n.1214C>T) c.1045C>T (p.Arg349Ter) c.877C>T (p.Arg293Ter) c.1933C>T (p.Arg645Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42543883G>A | CA8577110 | NAGLU | c.1877G>A (p.Arg626Gln) c.1215G>A (n.1215G>A) c.1046G>A (p.Arg349Gln) c.878G>A (p.Arg293Gln) c.1934G>A (p.Arg645Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42543883G>C | CA399605319 | NAGLU | c.1877G>C (p.Arg626Pro) c.1215G>C (n.1215G>C) c.1046G>C (p.Arg349Pro) c.878G>C (p.Arg293Pro) c.1934G>C (p.Arg645Pro) | |
| 17 | g.42543883G= | CA2260530496 | NAGLU | c.1877G= (p.Arg626=) c.1215G= (n.1215G=) c.1046G= (p.Arg349=) c.878G= (p.Arg293=) c.1934G= (p.Arg645=) | |
| 17 | g.42543883G>T | CA399605322 | NAGLU | c.1877G>T (p.Arg626Leu) c.1215G>T (n.1215G>T) c.1046G>T (p.Arg349Leu) c.878G>T (p.Arg293Leu) c.1934G>T (p.Arg645Leu) | dbSNP gnomAD v4 |