| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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) | |
| 17 | g.42543664G>A | CA399604375 | NAGLU | c.1658G>A (p.Ser553Asn) c.996G>A (n.996G>A) c.827G>A (p.Ser276Asn) c.659G>A (p.Ser220Asn) c.1715G>A (p.Ser572Asn) | dbSNP gnomAD v2 |
| 17 | g.42543664G>C | CA399604373 | NAGLU | c.1658G>C (p.Ser553Thr) c.996G>C (n.996G>C) c.827G>C (p.Ser276Thr) c.659G>C (p.Ser220Thr) c.1715G>C (p.Ser572Thr) | |
| 17 | g.42543664G= | CA2260530393 | NAGLU | c.1658G= (p.Ser553=) c.996G= (n.996G=) c.827G= (p.Ser276=) c.659G= (p.Ser220=) c.1715G= (p.Ser572=) | |
| 17 | g.42543664G>T | CA399604374 | NAGLU | c.1658G>T (p.Ser553Ile) c.996G>T (n.996G>T) c.827G>T (p.Ser276Ile) c.659G>T (p.Ser220Ile) c.1715G>T (p.Ser572Ile) | |
| 17 | g.42543665C>A | CA399604376 | NAGLU | c.1659C>A (p.Ser553Arg) c.997C>A (n.997C>A) c.828C>A (p.Ser276Arg) c.660C>A (p.Ser220Arg) c.1716C>A (p.Ser572Arg) | dbSNP |
| 17 | g.42543665C= | CA2260530394 | NAGLU | c.1659C= (p.Ser553=) c.997C= (n.997C=) c.828C= (p.Ser276=) c.660C= (p.Ser220=) c.1716C= (p.Ser572=) | |
| 17 | g.42543665C>G | CA399604377 | NAGLU | c.1659C>G (p.Ser553Arg) c.997C>G (n.997C>G) c.828C>G (p.Ser276Arg) c.660C>G (p.Ser220Arg) c.1716C>G (p.Ser572Arg) | |
| 17 | g.42543665C>T | CA500217159 | NAGLU | c.1659C>T (p.Ser553=) c.997C>T (n.997C>T) c.828C>T (p.Ser276=) c.660C>T (p.Ser220=) c.1716C>T (p.Ser572=) | |
| 17 | g.42543666C>A | CA399604378 | NAGLU | c.1660C>A (p.Pro554Thr) c.998C>A (n.998C>A) c.829C>A (p.Pro277Thr) c.661C>A (p.Pro221Thr) c.1717C>A (p.Pro573Thr) | |
| 17 | g.42543666C= | CA2260530395 | NAGLU | c.1660C= (p.Pro554=) c.998C= (n.998C=) c.829C= (p.Pro277=) c.661C= (p.Pro221=) c.1717C= (p.Pro573=) | |
| 17 | g.42543666C>G | CA399604379 | NAGLU | c.1660C>G (p.Pro554Ala) c.998C>G (n.998C>G) c.829C>G (p.Pro277Ala) c.661C>G (p.Pro221Ala) c.1717C>G (p.Pro573Ala) | gnomAD v4 |
| 17 | g.42543666C>T | CA290780903 | NAGLU | c.1660C>T (p.Pro554Ser) c.998C>T (n.998C>T) c.829C>T (p.Pro277Ser) c.661C>T (p.Pro221Ser) c.1717C>T (p.Pro573Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.42543667C>A | CA399604380 | NAGLU | c.1661C>A (p.Pro554His) c.999C>A (n.999C>A) c.830C>A (p.Pro277His) c.662C>A (p.Pro221His) c.1718C>A (p.Pro573His) | |
| 17 | g.42543667C= | CA2260530396 | NAGLU | c.1661C= (p.Pro554=) c.999C= (n.999C=) c.830C= (p.Pro277=) c.662C= (p.Pro221=) c.1718C= (p.Pro573=) | |
| 17 | g.42543667C>G | CA399604381 | NAGLU | c.1661C>G (p.Pro554Arg) c.999C>G (n.999C>G) c.830C>G (p.Pro277Arg) c.662C>G (p.Pro221Arg) c.1718C>G (p.Pro573Arg) | |
| 17 | g.42543667C>T | CA399604382 | NAGLU | c.1661C>T (p.Pro554Leu) c.999C>T (n.999C>T) c.830C>T (p.Pro277Leu) c.662C>T (p.Pro221Leu) c.1718C>T (p.Pro573Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42543668C>A | CA500217163 | NAGLU | c.1662C>A (p.Pro554=) c.1000C>A (n.1000C>A) c.831C>A (p.Pro277=) c.663C>A (p.Pro221=) c.1719C>A (p.Pro573=) | |
| 17 | g.42543668C= | CA2260530397 | NAGLU | c.1662C= (p.Pro554=) c.1000C= (n.1000C=) c.831C= (p.Pro277=) c.663C= (p.Pro221=) c.1719C= (p.Pro573=) | |
| 17 | g.42543668C>G | CA500217164 | NAGLU | c.1662C>G (p.Pro554=) c.1000C>G (n.1000C>G) c.831C>G (p.Pro277=) c.663C>G (p.Pro221=) c.1719C>G (p.Pro573=) | |
| 17 | g.42543668C>T | CA8577069 | NAGLU | c.1662C>T (p.Pro554=) c.1000C>T (n.1000C>T) c.831C>T (p.Pro277=) c.663C>T (p.Pro221=) c.1719C>T (p.Pro573=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42543669G>A | CA8577070 | NAGLU | c.1663G>A (p.Ala555Thr) c.1001G>A (n.1001G>A) c.832G>A (p.Ala278Thr) c.664G>A (p.Ala222Thr) c.1720G>A (p.Ala574Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42543669G>C | CA399604383 | NAGLU | c.1663G>C (p.Ala555Pro) c.1001G>C (n.1001G>C) c.832G>C (p.Ala278Pro) c.664G>C (p.Ala222Pro) c.1720G>C (p.Ala574Pro) | gnomAD v4 |
| 17 | g.42543669G= | CA2260530398 | NAGLU | c.1663G= (p.Ala555=) c.1001G= (n.1001G=) c.832G= (p.Ala278=) c.664G= (p.Ala222=) c.1720G= (p.Ala574=) | |
| 17 | g.42543669G>T | CA399604384 | NAGLU | c.1663G>T (p.Ala555Ser) c.1001G>T (n.1001G>T) c.832G>T (p.Ala278Ser) c.664G>T (p.Ala222Ser) c.1720G>T (p.Ala574Ser) | gnomAD v4 |
| 17 | g.42543670C>A | CA399604388 | NAGLU | c.1664C>A (p.Ala555Asp) c.1002C>A (n.1002C>A) c.833C>A (p.Ala278Asp) c.665C>A (p.Ala222Asp) c.1721C>A (p.Ala574Asp) | |
| 17 | g.42543670C>G | CA399604390 | NAGLU | c.1664C>G (p.Ala555Gly) c.1002C>G (n.1002C>G) c.833C>G (p.Ala278Gly) c.665C>G (p.Ala222Gly) c.1721C>G (p.Ala574Gly) | |
| 17 | g.42543670C>T | CA399604386 | NAGLU | c.1664C>T (p.Ala555Val) c.1002C>T (n.1002C>T) c.833C>T (p.Ala278Val) c.665C>T (p.Ala222Val) c.1721C>T (p.Ala574Val) | ClinVar gnomAD v4 |
| 17 | g.42543671C>A | CA500217170 | NAGLU | c.1665C>A (p.Ala555=) c.1003C>A (n.1003C>A) c.834C>A (p.Ala278=) c.666C>A (p.Ala222=) c.1722C>A (p.Ala574=) | ClinVar |
| 17 | g.42543671C= | CA2260530399 | NAGLU | c.1665C= (p.Ala555=) c.1003C= (n.1003C=) c.834C= (p.Ala278=) c.666C= (p.Ala222=) c.1722C= (p.Ala574=) | |
| 17 | g.42543671C>G | CA500217168 | NAGLU | c.1665C>G (p.Ala555=) c.1003C>G (n.1003C>G) c.834C>G (p.Ala278=) c.666C>G (p.Ala222=) c.1722C>G (p.Ala574=) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.42543671C>T | CA500217169 | NAGLU | c.1665C>T (p.Ala555=) c.1003C>T (n.1003C>T) c.834C>T (p.Ala278=) c.666C>T (p.Ala222=) c.1722C>T (p.Ala574=) | ClinVar |
| 17 | g.42543672T>A | CA399604392 | NAGLU | c.1666T>A (p.Phe556Ile) c.1004T>A (n.1004T>A) c.835T>A (p.Phe279Ile) c.667T>A (p.Phe223Ile) c.1723T>A (p.Phe575Ile) | |
| 17 | g.42543672T>C | CA399604394 | NAGLU | c.1666T>C (p.Phe556Leu) c.1004T>C (n.1004T>C) c.835T>C (p.Phe279Leu) c.667T>C (p.Phe223Leu) c.1723T>C (p.Phe575Leu) | |
| 17 | g.42543672T>G | CA399604396 | NAGLU | c.1666T>G (p.Phe556Val) c.1004T>G (n.1004T>G) c.835T>G (p.Phe279Val) c.667T>G (p.Phe223Val) c.1723T>G (p.Phe575Val) | |
| 17 | g.42543673T>A | CA399604398 | NAGLU | c.1667T>A (p.Phe556Tyr) c.1005T>A (n.1005T>A) c.836T>A (p.Phe279Tyr) c.668T>A (p.Phe223Tyr) c.1724T>A (p.Phe575Tyr) | |
| 17 | g.42543673T>C | CA399604399 | NAGLU | c.1667T>C (p.Phe556Ser) c.1005T>C (n.1005T>C) c.836T>C (p.Phe279Ser) c.668T>C (p.Phe223Ser) c.1724T>C (p.Phe575Ser) | |
| 17 | g.42543673T>G | CA399604401 | NAGLU | c.1667T>G (p.Phe556Cys) c.1005T>G (n.1005T>G) c.836T>G (p.Phe279Cys) c.668T>G (p.Phe223Cys) c.1724T>G (p.Phe575Cys) | |
| 17 | g.42543674C>A | CA399604405 | NAGLU | c.1668C>A (p.Phe556Leu) c.1006C>A (n.1006C>A) c.837C>A (p.Phe279Leu) c.669C>A (p.Phe223Leu) c.1725C>A (p.Phe575Leu) | |
| 17 | g.42543674C>G | CA399604403 | NAGLU | c.1668C>G (p.Phe556Leu) c.1006C>G (n.1006C>G) c.837C>G (p.Phe279Leu) c.669C>G (p.Phe223Leu) c.1725C>G (p.Phe575Leu) | |
| 17 | g.42543674C>T | CA500217171 | NAGLU | c.1668C>T (p.Phe556=) c.1006C>T (n.1006C>T) c.837C>T (p.Phe279=) c.669C>T (p.Phe223=) c.1725C>T (p.Phe575=) | |
| 17 | g.42543676_42543684del | CA2637971441 | NAGLU | c.1670_1678del (p.Arg557_Asp559del) c.1008_1016del (n.1008_1016del) c.839_847del (p.Arg280_Asp282del) c.671_679del (p.Arg224_Asp226del) c.1727_1735del (p.Arg576_Asp578del) | gnomAD v4 |
| 17 | g.42543675C>A | CA399604407 | NAGLU | c.1669C>A (p.Arg557Ser) c.1007C>A (n.1007C>A) c.838C>A (p.Arg280Ser) c.670C>A (p.Arg224Ser) c.1726C>A (p.Arg576Ser) | |
| 17 | g.42543675C= | CA2260530400 | NAGLU | c.1669C= (p.Arg557=) c.1007C= (n.1007C=) c.838C= (p.Arg280=) c.670C= (p.Arg224=) c.1726C= (p.Arg576=) | |
| 17 | g.42543675C>G | CA399604408 | NAGLU | c.1669C>G (p.Arg557Gly) c.1007C>G (n.1007C>G) c.838C>G (p.Arg280Gly) c.670C>G (p.Arg224Gly) c.1726C>G (p.Arg576Gly) | |
| 17 | g.42543675C>T | CA8577071 | NAGLU | c.1669C>T (p.Arg557Cys) c.1007C>T (n.1007C>T) c.838C>T (p.Arg280Cys) c.670C>T (p.Arg224Cys) c.1726C>T (p.Arg576Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42543676G>A | CA290780929 | NAGLU | c.1670G>A (p.Arg557His) c.1008G>A (n.1008G>A) c.839G>A (p.Arg280His) c.671G>A (p.Arg224His) c.1727G>A (p.Arg576His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42543676G>C | CA399604410 | NAGLU | c.1670G>C (p.Arg557Pro) c.1008G>C (n.1008G>C) c.839G>C (p.Arg280Pro) c.671G>C (p.Arg224Pro) c.1727G>C (p.Arg576Pro) | |
| 17 | g.42543676G= | CA2260530401 | NAGLU | c.1670G= (p.Arg557=) c.1008G= (n.1008G=) c.839G= (p.Arg280=) c.671G= (p.Arg224=) c.1727G= (p.Arg576=) | |
| 17 | g.42543676G>T | CA8577072 | NAGLU | c.1670G>T (p.Arg557Leu) c.1008G>T (n.1008G>T) c.839G>T (p.Arg280Leu) c.671G>T (p.Arg224Leu) c.1727G>T (p.Arg576Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.42543677C>A | CA500217175 | NAGLU | c.1671C>A (p.Arg557=) c.1009C>A (n.1009C>A) c.840C>A (p.Arg280=) c.672C>A (p.Arg224=) c.1728C>A (p.Arg576=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.42543677C= | CA2260530402 | NAGLU | c.1671C= (p.Arg557=) c.1009C= (n.1009C=) c.840C= (p.Arg280=) c.672C= (p.Arg224=) c.1728C= (p.Arg576=) | |
| 17 | g.42543677C>G | CA500217173 | NAGLU | c.1671C>G (p.Arg557=) c.1009C>G (n.1009C>G) c.840C>G (p.Arg280=) c.672C>G (p.Arg224=) c.1728C>G (p.Arg576=) | |
| 17 | g.42543677C>T | CA500217176 | NAGLU | c.1671C>T (p.Arg557=) c.1009C>T (n.1009C>T) c.840C>T (p.Arg280=) c.672C>T (p.Arg224=) c.1728C>T (p.Arg576=) | gnomAD v4 |
| 17 | g.42543678T>A | CA399604413 | NAGLU | c.1672T>A (p.Tyr558Asn) c.1010T>A (n.1010T>A) c.841T>A (p.Tyr281Asn) c.673T>A (p.Tyr225Asn) c.1729T>A (p.Tyr577Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.42543678T>C | CA399604417 | NAGLU | c.1672T>C (p.Tyr558His) c.1010T>C (n.1010T>C) c.841T>C (p.Tyr281His) c.673T>C (p.Tyr225His) c.1729T>C (p.Tyr577His) | gnomAD v4 |
| 17 | g.42543678T>G | CA399604415 | NAGLU | c.1672T>G (p.Tyr558Asp) c.1010T>G (n.1010T>G) c.841T>G (p.Tyr281Asp) c.673T>G (p.Tyr225Asp) c.1729T>G (p.Tyr577Asp) | |
| 17 | g.42543678T= | CA2260530403 | NAGLU | c.1672T= (p.Tyr558=) c.1010T= (n.1010T=) c.841T= (p.Tyr281=) c.673T= (p.Tyr225=) c.1729T= (p.Tyr577=) | |
| 17 | g.42543679A>C | CA399604419 | NAGLU | c.1673A>C (p.Tyr558Ser) c.1011A>C (n.1011A>C) c.842A>C (p.Tyr281Ser) c.674A>C (p.Tyr225Ser) c.1730A>C (p.Tyr577Ser) | |
| 17 | g.42543679A>G | CA399604421 | NAGLU | c.1673A>G (p.Tyr558Cys) c.1011A>G (n.1011A>G) c.842A>G (p.Tyr281Cys) c.674A>G (p.Tyr225Cys) c.1730A>G (p.Tyr577Cys) | |
| 17 | g.42543679A>T | CA399604423 | NAGLU | c.1673A>T (p.Tyr558Phe) c.1011A>T (n.1011A>T) c.842A>T (p.Tyr281Phe) c.674A>T (p.Tyr225Phe) c.1730A>T (p.Tyr577Phe) | |
| 17 | g.42543680C>A | CA399604425 | NAGLU | c.1674C>A (p.Tyr558Ter) c.1012C>A (n.1012C>A) c.843C>A (p.Tyr281Ter) c.675C>A (p.Tyr225Ter) c.1731C>A (p.Tyr577Ter) | |
| 17 | g.42543680C= | CA2260530404 | NAGLU | c.1674C= (p.Tyr558=) c.1012C= (n.1012C=) c.843C= (p.Tyr281=) c.675C= (p.Tyr225=) c.1731C= (p.Tyr577=) | |
| 17 | g.42543680C>G | CA399604427 | NAGLU | c.1674C>G (p.Tyr558Ter) c.1012C>G (n.1012C>G) c.843C>G (p.Tyr281Ter) c.675C>G (p.Tyr225Ter) c.1731C>G (p.Tyr577Ter) | ClinVar dbSNP |
| 17 | g.42543680C>T | CA8577073 | NAGLU | c.1674C>T (p.Tyr558=) c.1012C>T (n.1012C>T) c.843C>T (p.Tyr281=) c.675C>T (p.Tyr225=) c.1731C>T (p.Tyr577=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42543681G>A | CA8577075 | NAGLU | c.1675G>A (p.Asp559Asn) c.1013G>A (n.1013G>A) c.844G>A (p.Asp282Asn) c.676G>A (p.Asp226Asn) c.1732G>A (p.Asp578Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42543681G>C | CA8577074 | NAGLU | c.1675G>C (p.Asp559His) c.1013G>C (n.1013G>C) c.844G>C (p.Asp282His) c.676G>C (p.Asp226His) c.1732G>C (p.Asp578His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42543681G= | CA2260530405 | NAGLU | c.1675G= (p.Asp559=) c.1013G= (n.1013G=) c.844G= (p.Asp282=) c.676G= (p.Asp226=) c.1732G= (p.Asp578=) | |
| 17 | g.42543681G>T | CA399604432 | NAGLU | c.1675G>T (p.Asp559Tyr) c.1013G>T (n.1013G>T) c.844G>T (p.Asp282Tyr) c.676G>T (p.Asp226Tyr) c.1732G>T (p.Asp578Tyr) | ClinVar gnomAD v4 |
| 17 | g.42543682A>C | CA399604435 | NAGLU | c.1676A>C (p.Asp559Ala) c.1014A>C (n.1014A>C) c.845A>C (p.Asp282Ala) c.677A>C (p.Asp226Ala) c.1733A>C (p.Asp578Ala) | |
| 17 | g.42543682A>G | CA399604436 | NAGLU | c.1676A>G (p.Asp559Gly) c.1014A>G (n.1014A>G) c.845A>G (p.Asp282Gly) c.677A>G (p.Asp226Gly) c.1733A>G (p.Asp578Gly) | COSMIC |
| 17 | g.42543682A>T | CA399604437 | NAGLU | c.1676A>T (p.Asp559Val) c.1014A>T (n.1014A>T) c.845A>T (p.Asp282Val) c.677A>T (p.Asp226Val) c.1733A>T (p.Asp578Val) | |
| 17 | g.42543683C>A | CA399604440 | NAGLU | c.1677C>A (p.Asp559Glu) c.1015C>A (n.1015C>A) c.846C>A (p.Asp282Glu) c.678C>A (p.Asp226Glu) c.1734C>A (p.Asp578Glu) | |
| 17 | g.42543683C= | CA2260530406 | NAGLU | c.1677C= (p.Asp559=) c.1015C= (n.1015C=) c.846C= (p.Asp282=) c.678C= (p.Asp226=) c.1734C= (p.Asp578=) | |
| 17 | g.42543683C>G | CA399604442 | NAGLU | c.1677C>G (p.Asp559Glu) c.1015C>G (n.1015C>G) c.846C>G (p.Asp282Glu) c.678C>G (p.Asp226Glu) c.1734C>G (p.Asp578Glu) | |
| 17 | g.42543683C>T | CA8577076 | NAGLU | c.1677C>T (p.Asp559=) c.1015C>T (n.1015C>T) c.846C>T (p.Asp282=) c.678C>T (p.Asp226=) c.1734C>T (p.Asp578=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.42543684C>A | CA399604443 | NAGLU | c.1678C>A (p.Leu560Met) c.1016C>A (n.1016C>A) c.847C>A (p.Leu283Met) c.679C>A (p.Leu227Met) c.1735C>A (p.Leu579Met) | |
| 17 | g.42543684C= | CA2260530407 | NAGLU | c.1678C= (p.Leu560=) c.1016C= (n.1016C=) c.847C= (p.Leu283=) c.679C= (p.Leu227=) c.1735C= (p.Leu579=) | |
| 17 | g.42543684C>G | CA399604444 | NAGLU | c.1678C>G (p.Leu560Val) c.1016C>G (n.1016C>G) c.847C>G (p.Leu283Val) c.679C>G (p.Leu227Val) c.1735C>G (p.Leu579Val) | dbSNP |
| 17 | g.42543684C>T | CA500217183 | NAGLU | c.1678C>T (p.Leu560=) c.1016C>T (n.1016C>T) c.847C>T (p.Leu283=) c.679C>T (p.Leu227=) c.1735C>T (p.Leu579=) | |
| 17 | g.42543685T>A | CA399604447 | NAGLU | c.1679T>A (p.Leu560Gln) c.1017T>A (n.1017T>A) c.848T>A (p.Leu283Gln) c.680T>A (p.Leu227Gln) c.1736T>A (p.Leu579Gln) | |
| 17 | g.42543685T>C | CA399604448 | NAGLU | c.1679T>C (p.Leu560Pro) c.1017T>C (n.1017T>C) c.848T>C (p.Leu283Pro) c.680T>C (p.Leu227Pro) c.1736T>C (p.Leu579Pro) | gnomAD v4 |
| 17 | g.42543685T>G | CA399604450 | NAGLU | c.1679T>G (p.Leu560Arg) c.1017T>G (n.1017T>G) c.848T>G (p.Leu283Arg) c.680T>G (p.Leu227Arg) c.1736T>G (p.Leu579Arg) | |
| 17 | g.42543686G>A | CA8577077 | NAGLU | c.1680G>A (p.Leu560=) c.1018G>A (n.1018G>A) c.849G>A (p.Leu283=) c.681G>A (p.Leu227=) c.1737G>A (p.Leu579=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.42543686G>C | CA500217188 | NAGLU | c.1680G>C (p.Leu560=) c.1018G>C (n.1018G>C) c.849G>C (p.Leu283=) c.681G>C (p.Leu227=) c.1737G>C (p.Leu579=) | ClinVar dbSNP COSMIC |
| 17 | g.42543686G= | CA2260530408 | NAGLU | c.1680G= (p.Leu560=) c.1018G= (n.1018G=) c.849G= (p.Leu283=) c.681G= (p.Leu227=) c.1737G= (p.Leu579=) | |
| 17 | g.42543686G>T | CA500217186 | NAGLU | c.1680G>T (p.Leu560=) c.1018G>T (n.1018G>T) c.849G>T (p.Leu283=) c.681G>T (p.Leu227=) c.1737G>T (p.Leu579=) | |
| 17 | g.42543687C>A | CA399604455 | NAGLU | c.1681C>A (p.Leu561Met) c.1019C>A (n.1019C>A) c.850C>A (p.Leu284Met) c.682C>A (p.Leu228Met) c.1738C>A (p.Leu580Met) | gnomAD v4 |
| 17 | g.42543687C= | CA2260530409 | NAGLU | c.1681C= (p.Leu561=) c.1019C= (n.1019C=) c.850C= (p.Leu284=) c.682C= (p.Leu228=) c.1738C= (p.Leu580=) | |
| 17 | g.42543687C>G | CA399604453 | NAGLU | c.1681C>G (p.Leu561Val) c.1019C>G (n.1019C>G) c.850C>G (p.Leu284Val) c.682C>G (p.Leu228Val) c.1738C>G (p.Leu580Val) | ClinVar |
| 17 | g.42543687C>T | CA500217189 | NAGLU | c.1681C>T (p.Leu561=) c.1019C>T (n.1019C>T) c.850C>T (p.Leu284=) c.682C>T (p.Leu228=) c.1738C>T (p.Leu580=) | dbSNP gnomAD v2 |
| 17 | g.42543688T>A | CA399604458 | NAGLU | c.1682T>A (p.Leu561Gln) c.1020T>A (n.1020T>A) c.851T>A (p.Leu284Gln) c.683T>A (p.Leu228Gln) c.1739T>A (p.Leu580Gln) | |
| 17 | g.42543688T>C | CA399604459 | NAGLU | c.1682T>C (p.Leu561Pro) c.1020T>C (n.1020T>C) c.851T>C (p.Leu284Pro) c.683T>C (p.Leu228Pro) c.1739T>C (p.Leu580Pro) | ClinVar dbSNP |
| 17 | g.42543688T>G | CA399604461 | NAGLU | c.1682T>G (p.Leu561Arg) c.1020T>G (n.1020T>G) c.851T>G (p.Leu284Arg) c.683T>G (p.Leu228Arg) c.1739T>G (p.Leu580Arg) | ClinVar dbSNP gnomAD v4 |
| 17 | g.42543688T= | CA2260530410 | NAGLU | c.1682T= (p.Leu561=) c.1020T= (n.1020T=) c.851T= (p.Leu284=) c.683T= (p.Leu228=) c.1739T= (p.Leu580=) | |
| 17 | g.42543689G>A | CA500217193 | NAGLU | c.1683G>A (p.Leu561=) c.1021G>A (n.1021G>A) c.852G>A (p.Leu284=) c.684G>A (p.Leu228=) c.1740G>A (p.Leu580=) | ClinVar |
| 17 | g.42543689G>C | CA500217192 | NAGLU | c.1683G>C (p.Leu561=) c.1021G>C (n.1021G>C) c.852G>C (p.Leu284=) c.684G>C (p.Leu228=) c.1740G>C (p.Leu580=) | |
| 17 | g.42543689G>T | CA500217194 | NAGLU | c.1683G>T (p.Leu561=) c.1021G>T (n.1021G>T) c.852G>T (p.Leu284=) c.684G>T (p.Leu228=) c.1740G>T (p.Leu580=) | |
| 17 | g.42543690G>A | CA399604463 | NAGLU | c.1684G>A (p.Asp562Asn) c.1022G>A (n.1022G>A) c.853G>A (p.Asp285Asn) c.685G>A (p.Asp229Asn) c.1741G>A (p.Asp581Asn) | gnomAD v4 |
| 17 | g.42543690G>C | CA399604465 | NAGLU | c.1684G>C (p.Asp562His) c.1022G>C (n.1022G>C) c.853G>C (p.Asp285His) c.685G>C (p.Asp229His) c.1741G>C (p.Asp581His) | |
| 17 | g.42543690G>T | CA399604466 | NAGLU | c.1684G>T (p.Asp562Tyr) c.1022G>T (n.1022G>T) c.853G>T (p.Asp285Tyr) c.685G>T (p.Asp229Tyr) c.1741G>T (p.Asp581Tyr) | gnomAD v4 |
| 17 | g.42543691A= | CA2260530411 | NAGLU | c.1685A= (p.Asp562=) c.1023A= (n.1023A=) c.854A= (p.Asp285=) c.686A= (p.Asp229=) c.1742A= (p.Asp581=) | |
| 17 | g.42543691A>C | CA399604469 | NAGLU | c.1685A>C (p.Asp562Ala) c.1023A>C (n.1023A>C) c.854A>C (p.Asp285Ala) c.686A>C (p.Asp229Ala) c.1742A>C (p.Asp581Ala) | |
| 17 | g.42543691A>G | CA399604472 | NAGLU | c.1685A>G (p.Asp562Gly) c.1023A>G (n.1023A>G) c.854A>G (p.Asp285Gly) c.686A>G (p.Asp229Gly) c.1742A>G (p.Asp581Gly) | dbSNP gnomAD v4 |
| 17 | g.42543691A>T | CA399604470 | NAGLU | c.1685A>T (p.Asp562Val) c.1023A>T (n.1023A>T) c.854A>T (p.Asp285Val) c.686A>T (p.Asp229Val) c.1742A>T (p.Asp581Val) | |
| 17 | g.42543692C>A | CA399604475 | NAGLU | c.1686C>A (p.Asp562Glu) c.1024C>A (n.1024C>A) c.855C>A (p.Asp285Glu) c.687C>A (p.Asp229Glu) c.1743C>A (p.Asp581Glu) | |
| 17 | g.42543692C>G | CA399604476 | NAGLU | c.1686C>G (p.Asp562Glu) c.1024C>G (n.1024C>G) c.855C>G (p.Asp285Glu) c.687C>G (p.Asp229Glu) c.1743C>G (p.Asp581Glu) | |
| 17 | g.42543692C>T | CA500217201 | NAGLU | c.1686C>T (p.Asp562=) c.1024C>T (n.1024C>T) c.855C>T (p.Asp285=) c.687C>T (p.Asp229=) c.1743C>T (p.Asp581=) | ClinVar dbSNP gnomAD v4 |
| 17 | g.42543693C>A | CA399604478 | NAGLU | c.1687C>A (p.Leu563Ile) c.1025C>A (n.1025C>A) c.856C>A (p.Leu286Ile) c.688C>A (p.Leu230Ile) c.1744C>A (p.Leu582Ile) | gnomAD v4 |
| 17 | g.42543693C>G | CA399604480 | NAGLU | c.1687C>G (p.Leu563Val) c.1025C>G (n.1025C>G) c.856C>G (p.Leu286Val) c.688C>G (p.Leu230Val) c.1744C>G (p.Leu582Val) | gnomAD v4 |
| 17 | g.42543693C>T | CA399604482 | NAGLU | c.1687C>T (p.Leu563Phe) c.1025C>T (n.1025C>T) c.856C>T (p.Leu286Phe) c.688C>T (p.Leu230Phe) c.1744C>T (p.Leu582Phe) | |
| 17 | g.42543696_42543699del | CA2740095369 | NAGLU | c.1690_1693del (p.Thr564GlyfsTer20) c.1028_1031del (n.1028_1031del) c.859_862del (p.Thr287GlyfsTer20) c.691_694del (p.Thr231GlyfsTer20) c.1747_1750del (p.Thr583GlyfsTer20) | ClinVar |
| 17 | g.42543694T>A | CA8577078 | NAGLU | c.1688T>A (p.Leu563His) c.1026T>A (n.1026T>A) c.857T>A (p.Leu286His) c.689T>A (p.Leu230His) c.1745T>A (p.Leu582His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.42543694T>C | CA399604484 | NAGLU | c.1688T>C (p.Leu563Pro) c.1026T>C (n.1026T>C) c.857T>C (p.Leu286Pro) c.689T>C (p.Leu230Pro) c.1745T>C (p.Leu582Pro) | |
| 17 | g.42543694T>G | CA399604486 | NAGLU | c.1688T>G (p.Leu563Arg) c.1026T>G (n.1026T>G) c.857T>G (p.Leu286Arg) c.689T>G (p.Leu230Arg) c.1745T>G (p.Leu582Arg) | |
| 17 | g.42543694T= | CA2260530412 | NAGLU | c.1688T= (p.Leu563=) c.1026T= (n.1026T=) c.857T= (p.Leu286=) c.689T= (p.Leu230=) c.1745T= (p.Leu582=) | |
| 17 | g.42543695C>A | CA500217212 | NAGLU | c.1689C>A (p.Leu563=) c.1027C>A (n.1027C>A) c.858C>A (p.Leu286=) c.690C>A (p.Leu230=) c.1746C>A (p.Leu582=) | dbSNP |
| 17 | g.42543695C= | CA2260530413 | NAGLU | c.1689C= (p.Leu563=) c.1027C= (n.1027C=) c.858C= (p.Leu286=) c.690C= (p.Leu230=) c.1746C= (p.Leu582=) | |
| 17 | g.42543695C>G | CA500217208 | NAGLU | c.1689C>G (p.Leu563=) c.1027C>G (n.1027C>G) c.858C>G (p.Leu286=) c.690C>G (p.Leu230=) c.1746C>G (p.Leu582=) | |
| 17 | g.42543695C>T | CA500217209 | NAGLU | c.1689C>T (p.Leu563=) c.1027C>T (n.1027C>T) c.858C>T (p.Leu286=) c.690C>T (p.Leu230=) c.1746C>T (p.Leu582=) | |
| 17 | g.42543696A= | CA2260530414 | NAGLU | c.1690A= (p.Thr564=) c.1028A= (n.1028A=) c.859A= (p.Thr287=) c.691A= (p.Thr231=) c.1747A= (p.Thr583=) | |
| 17 | g.42543696A>C | CA399604488 | NAGLU | c.1690A>C (p.Thr564Pro) c.1028A>C (n.1028A>C) c.859A>C (p.Thr287Pro) c.691A>C (p.Thr231Pro) c.1747A>C (p.Thr583Pro) | |
| 17 | g.42543696A>G | CA399604490 | NAGLU | c.1690A>G (p.Thr564Ala) c.1028A>G (n.1028A>G) c.859A>G (p.Thr287Ala) c.691A>G (p.Thr231Ala) c.1747A>G (p.Thr583Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.42543696A>T | CA399604492 | NAGLU | c.1690A>T (p.Thr564Ser) c.1028A>T (n.1028A>T) c.859A>T (p.Thr287Ser) c.691A>T (p.Thr231Ser) c.1747A>T (p.Thr583Ser) | |
| 17 | g.42543697C>A | CA399604496 | NAGLU | c.1691C>A (p.Thr564Asn) c.1029C>A (n.1029C>A) c.860C>A (p.Thr287Asn) c.692C>A (p.Thr231Asn) c.1748C>A (p.Thr583Asn) | |
| 17 | g.42543697C>G | CA399604498 | NAGLU | c.1691C>G (p.Thr564Ser) c.1029C>G (n.1029C>G) c.860C>G (p.Thr287Ser) c.692C>G (p.Thr231Ser) c.1748C>G (p.Thr583Ser) | |
| 17 | g.42543697C>T | CA399604494 | NAGLU | c.1691C>T (p.Thr564Ile) c.1029C>T (n.1029C>T) c.860C>T (p.Thr287Ile) c.692C>T (p.Thr231Ile) c.1748C>T (p.Thr583Ile) | gnomAD v4 COSMIC |
| 17 | g.42543697_42543700dup | CA2695225866 | NAGLU | c.1691_1694dup (p.Gln566SerfsTer13) c.1029_1032dup (n.1029_1032dup) c.860_863dup (p.Gln289SerfsTer13) c.692_695dup (p.Gln233SerfsTer13) c.1748_1751dup (p.Gln585SerfsTer13) | |
| 17 | g.42543698T>A | CA500217220 | NAGLU | c.1692T>A (p.Thr564=) c.1030T>A (n.1030T>A) c.861T>A (p.Thr287=) c.693T>A (p.Thr231=) c.1749T>A (p.Thr583=) | |
| 17 | g.42543698T>C | CA500217219 | NAGLU | c.1692T>C (p.Thr564=) c.1030T>C (n.1030T>C) c.861T>C (p.Thr287=) c.693T>C (p.Thr231=) c.1749T>C (p.Thr583=) | ClinVar |
| 17 | g.42543698T>G | CA500217217 | NAGLU | c.1692T>G (p.Thr564=) c.1030T>G (n.1030T>G) c.861T>G (p.Thr287=) c.693T>G (p.Thr231=) c.1749T>G (p.Thr583=) | |
| 17 | g.42543699C>A | CA500217225 | NAGLU | c.1693C>A (p.Arg565=) c.1031C>A (n.1031C>A) c.862C>A (p.Arg288=) c.694C>A (p.Arg232=) c.1750C>A (p.Arg584=) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.42543699C= | CA2260530415 | NAGLU | c.1693C= (p.Arg565=) c.1031C= (n.1031C=) c.862C= (p.Arg288=) c.694C= (p.Arg232=) c.1750C= (p.Arg584=) | |
| 17 | g.42543699C>G | CA399604499 | NAGLU | c.1693C>G (p.Arg565Gly) c.1031C>G (n.1031C>G) c.862C>G (p.Arg288Gly) c.694C>G (p.Arg232Gly) c.1750C>G (p.Arg584Gly) | |
| 17 | g.42543699C>T | CA115050 | NAGLU | c.1693C>T (p.Arg565Trp) c.1031C>T (n.1031C>T) c.862C>T (p.Arg288Trp) c.694C>T (p.Arg232Trp) c.1750C>T (p.Arg584Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42543700G>A | CA129472 | NAGLU | c.1694G>A (p.Arg565Gln) c.1032G>A (n.1032G>A) c.863G>A (p.Arg288Gln) c.695G>A (p.Arg232Gln) c.1751G>A (p.Arg584Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42543700G>C | CA115051 | NAGLU | c.1694G>C (p.Arg565Pro) c.1032G>C (n.1032G>C) c.863G>C (p.Arg288Pro) c.695G>C (p.Arg232Pro) c.1751G>C (p.Arg584Pro) | ClinVar dbSNP gnomAD v4 |
| 17 | g.42543700G= | CA2260530416 | NAGLU | c.1694G= (p.Arg565=) c.1032G= (n.1032G=) c.863G= (p.Arg288=) c.695G= (p.Arg232=) c.1751G= (p.Arg584=) | |
| 17 | g.42543700G>T | CA8577079 | NAGLU | c.1694G>T (p.Arg565Leu) c.1032G>T (n.1032G>T) c.863G>T (p.Arg288Leu) c.695G>T (p.Arg232Leu) c.1751G>T (p.Arg584Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 17 | g.42543701G>A | CA500217229 | NAGLU | c.1695G>A (p.Arg565=) c.1033G>A (n.1033G>A) c.864G>A (p.Arg288=) c.696G>A (p.Arg232=) c.1752G>A (p.Arg584=) | gnomAD v4 |
| 17 | g.42543701G>C | CA500217230 | NAGLU | c.1695G>C (p.Arg565=) c.1033G>C (n.1033G>C) c.864G>C (p.Arg288=) c.696G>C (p.Arg232=) c.1752G>C (p.Arg584=) | gnomAD v4 |
| 17 | g.42543701G>T | CA500217232 | NAGLU | c.1695G>T (p.Arg565=) c.1033G>T (n.1033G>T) c.864G>T (p.Arg288=) c.696G>T (p.Arg232=) c.1752G>T (p.Arg584=) | ClinVar gnomAD v4 |
| 17 | g.42543702C>A | CA399604505 | NAGLU | c.1696C>A (p.Gln566Lys) c.1034C>A (n.1034C>A) c.865C>A (p.Gln289Lys) c.697C>A (p.Gln233Lys) c.1753C>A (p.Gln585Lys) | |
| 17 | g.42543702C>G | CA399604507 | NAGLU | c.1696C>G (p.Gln566Glu) c.1034C>G (n.1034C>G) c.865C>G (p.Gln289Glu) c.697C>G (p.Gln233Glu) c.1753C>G (p.Gln585Glu) | |
| 17 | g.42543702C>T | CA399604508 | NAGLU | c.1696C>T (p.Gln566Ter) c.1034C>T (n.1034C>T) c.865C>T (p.Gln289Ter) c.697C>T (p.Gln233Ter) c.1753C>T (p.Gln585Ter) | ClinVar |
| 17 | g.42543703A>C | CA399604511 | NAGLU | c.1697A>C (p.Gln566Pro) c.1035A>C (n.1035A>C) c.866A>C (p.Gln289Pro) c.698A>C (p.Gln233Pro) c.1754A>C (p.Gln585Pro) | |
| 17 | g.42543703A>G | CA399604512 | NAGLU | c.1697A>G (p.Gln566Arg) c.1035A>G (n.1035A>G) c.866A>G (p.Gln289Arg) c.698A>G (p.Gln233Arg) c.1754A>G (p.Gln585Arg) | |
| 17 | g.42543703A>T | CA399604514 | NAGLU | c.1697A>T (p.Gln566Leu) c.1035A>T (n.1035A>T) c.866A>T (p.Gln289Leu) c.698A>T (p.Gln233Leu) c.1754A>T (p.Gln585Leu) | |
| 17 | g.42543704G>A | CA500217237 | NAGLU | c.1698G>A (p.Gln566=) c.1036G>A (n.1036G>A) c.867G>A (p.Gln289=) c.699G>A (p.Gln233=) c.1755G>A (p.Gln585=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42543704G>C | CA399604516 | NAGLU | c.1698G>C (p.Gln566His) c.1036G>C (n.1036G>C) c.867G>C (p.Gln289His) c.699G>C (p.Gln233His) c.1755G>C (p.Gln585His) | |
| 17 | g.42543704G= | CA2260530417 | NAGLU | c.1698G= (p.Gln566=) c.1036G= (n.1036G=) c.867G= (p.Gln289=) c.699G= (p.Gln233=) c.1755G= (p.Gln585=) | |
| 17 | g.42543704G>T | CA399604518 | NAGLU | c.1698G>T (p.Gln566His) c.1036G>T (n.1036G>T) c.867G>T (p.Gln289His) c.699G>T (p.Gln233His) c.1755G>T (p.Gln585His) | |
| 17 | g.42543705G>A | CA399604520 | NAGLU | c.1699G>A (p.Ala567Thr) c.1037G>A (n.1037G>A) c.868G>A (p.Ala290Thr) c.700G>A (p.Ala234Thr) c.1756G>A (p.Ala586Thr) | gnomAD v4 |
| 17 | g.42543705G>C | CA399604521 | NAGLU | c.1699G>C (p.Ala567Pro) c.1037G>C (n.1037G>C) c.868G>C (p.Ala290Pro) c.700G>C (p.Ala234Pro) c.1756G>C (p.Ala586Pro) | |
| 17 | g.42543705G= | CA2260530418 | NAGLU | c.1699G= (p.Ala567=) c.1037G= (n.1037G=) c.868G= (p.Ala290=) c.700G= (p.Ala234=) c.1756G= (p.Ala586=) | |
| 17 | g.42543705G>T | CA399604522 | NAGLU | c.1699G>T (p.Ala567Ser) c.1037G>T (n.1037G>T) c.868G>T (p.Ala290Ser) c.700G>T (p.Ala234Ser) c.1756G>T (p.Ala586Ser) | ClinVar dbSNP gnomAD v4 |
| 17 | g.42543706C>A | CA399604528 | NAGLU | c.1700C>A (p.Ala567Glu) c.1038C>A (n.1038C>A) c.869C>A (p.Ala290Glu) c.701C>A (p.Ala234Glu) c.1757C>A (p.Ala586Glu) | |
| 17 | g.42543706C= | CA2260530419 | NAGLU | c.1700C= (p.Ala567=) c.1038C= (n.1038C=) c.869C= (p.Ala290=) c.701C= (p.Ala234=) c.1757C= (p.Ala586=) | |
| 17 | g.42543706C>G | CA399604527 | NAGLU | c.1700C>G (p.Ala567Gly) c.1038C>G (n.1038C>G) c.869C>G (p.Ala290Gly) c.701C>G (p.Ala234Gly) c.1757C>G (p.Ala586Gly) | |
| 17 | g.42543706C>T | CA399604525 | NAGLU | c.1700C>T (p.Ala567Val) c.1038C>T (n.1038C>T) c.869C>T (p.Ala290Val) c.701C>T (p.Ala234Val) c.1757C>T (p.Ala586Val) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.42543707A= | CA2260530420 | NAGLU | c.1701A= (p.Ala567=) c.1039A= (n.1039A=) c.870A= (p.Ala290=) c.702A= (p.Ala234=) c.1758A= (p.Ala586=) | |
| 17 | g.42543707A>C | CA500217246 | NAGLU | c.1701A>C (p.Ala567=) c.1039A>C (n.1039A>C) c.870A>C (p.Ala290=) c.702A>C (p.Ala234=) c.1758A>C (p.Ala586=) | |
| 17 | g.42543707A>G | CA8577080 | NAGLU | c.1701A>G (p.Ala567=) c.1039A>G (n.1039A>G) c.870A>G (p.Ala290=) c.702A>G (p.Ala234=) c.1758A>G (p.Ala586=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42543707A>T | CA500217245 | NAGLU | c.1701A>T (p.Ala567=) c.1039A>T (n.1039A>T) c.870A>T (p.Ala290=) c.702A>T (p.Ala234=) c.1758A>T (p.Ala586=) | |
| 17 | g.42543708G>A | CA399604530 | NAGLU | c.1702G>A (p.Val568Met) c.1040G>A (n.1040G>A) c.871G>A (p.Val291Met) c.703G>A (p.Val235Met) c.1759G>A (p.Val587Met) | |
| 17 | g.42543708G>C | CA399604531 | NAGLU | c.1702G>C (p.Val568Leu) c.1040G>C (n.1040G>C) c.871G>C (p.Val291Leu) c.703G>C (p.Val235Leu) c.1759G>C (p.Val587Leu) | |
| 17 | g.42543708G>T | CA399604533 | NAGLU | c.1702G>T (p.Val568Leu) c.1040G>T (n.1040G>T) c.871G>T (p.Val291Leu) c.703G>T (p.Val235Leu) c.1759G>T (p.Val587Leu) | |
| 17 | g.42543709T>A | CA399604535 | NAGLU | c.1703T>A (p.Val568Glu) c.1041T>A (n.1041T>A) c.872T>A (p.Val291Glu) c.704T>A (p.Val235Glu) c.1760T>A (p.Val587Glu) | |
| 17 | g.42543709T>C | CA399604537 | NAGLU | c.1703T>C (p.Val568Ala) c.1041T>C (n.1041T>C) c.872T>C (p.Val291Ala) c.704T>C (p.Val235Ala) c.1760T>C (p.Val587Ala) | gnomAD v4 |
| 17 | g.42543709T>G | CA8577081 | NAGLU | c.1703T>G (p.Val568Gly) c.1041T>G (n.1041T>G) c.872T>G (p.Val291Gly) c.704T>G (p.Val235Gly) c.1760T>G (p.Val587Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42543709T= | CA2260530421 | NAGLU | c.1703T= (p.Val568=) c.1041T= (n.1041T=) c.872T= (p.Val291=) c.704T= (p.Val235=) c.1760T= (p.Val587=) | |
| 17 | g.42543710G>A | CA500217184 | NAGLU | c.1704G>A (p.Val568=) c.1042G>A (n.1042G>A) c.873G>A (p.Val291=) c.705G>A (p.Val235=) c.1761G>A (p.Val587=) | ClinVar gnomAD v4 |
| 17 | g.42543710G>C | CA500217185 | NAGLU | c.1704G>C (p.Val568=) c.1042G>C (n.1042G>C) c.873G>C (p.Val291=) c.705G>C (p.Val235=) c.1761G>C (p.Val587=) | |
| 17 | g.42543710G>T | CA500217182 | NAGLU | c.1704G>T (p.Val568=) c.1042G>T (n.1042G>T) c.873G>T (p.Val291=) c.705G>T (p.Val235=) c.1761G>T (p.Val587=) | |
| 17 | g.42543711C>A | CA399604538 | NAGLU | c.1705C>A (p.Gln569Lys) c.1043C>A (n.1043C>A) c.874C>A (p.Gln292Lys) c.706C>A (p.Gln236Lys) c.1762C>A (p.Gln588Lys) | |
| 17 | g.42543711C= | CA2260530422 | NAGLU | c.1705C= (p.Gln569=) c.1043C= (n.1043C=) c.874C= (p.Gln292=) c.706C= (p.Gln236=) c.1762C= (p.Gln588=) | |
| 17 | g.42543711C>G | CA399604539 | NAGLU | c.1705C>G (p.Gln569Glu) c.1043C>G (n.1043C>G) c.874C>G (p.Gln292Glu) c.706C>G (p.Gln236Glu) c.1762C>G (p.Gln588Glu) | |
| 17 | g.42543711C>T | CA399604541 | NAGLU | c.1705C>T (p.Gln569Ter) c.1043C>T (n.1043C>T) c.874C>T (p.Gln292Ter) c.706C>T (p.Gln236Ter) c.1762C>T (p.Gln588Ter) | ClinVar dbSNP gnomAD v4 |
| 17 | g.42543712A= | CA2260530423 | NAGLU | c.1706A= (p.Gln569=) c.1044A= (n.1044A=) c.875A= (p.Gln292=) c.707A= (p.Gln236=) c.1763A= (p.Gln588=) | |
| 17 | g.42543712A>C | CA399604543 | NAGLU | c.1706A>C (p.Gln569Pro) c.1044A>C (n.1044A>C) c.875A>C (p.Gln292Pro) c.707A>C (p.Gln236Pro) c.1763A>C (p.Gln588Pro) | |
| 17 | g.42543712A>G | CA399604544 | NAGLU | c.1706A>G (p.Gln569Arg) c.1044A>G (n.1044A>G) c.875A>G (p.Gln292Arg) c.707A>G (p.Gln236Arg) c.1763A>G (p.Gln588Arg) | dbSNP gnomAD v4 |
| 17 | g.42543712A>T | CA399604545 | NAGLU | c.1706A>T (p.Gln569Leu) c.1044A>T (n.1044A>T) c.875A>T (p.Gln292Leu) c.707A>T (p.Gln236Leu) c.1763A>T (p.Gln588Leu) |