Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.42544129_42544211delCA2582342170NAGLUc.2123_2205del (p.Phe708SerfsTer21)
c.1292_1374del (p.Phe431SerfsTer21)
c.1124_1206del (p.Phe375SerfsTer21)
c.2180_2262del (p.Phe727SerfsTer21)
 ClinVar
17g.42544169A=CA2260530644NAGLUc.2163A= (p.Gly721=)
c.1332A= (p.Gly444=)
c.1164A= (p.Gly388=)
c.2220A= (p.Gly740=)
17g.42544169A>CCA500217820NAGLUc.2163A>C (p.Gly721=)
c.1332A>C (p.Gly444=)
c.1164A>C (p.Gly388=)
c.2220A>C (p.Gly740=)
 dbSNP
17g.42544169A>GCA500217823NAGLUc.2163A>G (p.Gly721=)
c.1332A>G (p.Gly444=)
c.1164A>G (p.Gly388=)
c.2220A>G (p.Gly740=)
17g.42544169A>TCA500217829NAGLUc.2163A>T (p.Gly721=)
c.1332A>T (p.Gly444=)
c.1164A>T (p.Gly388=)
c.2220A>T (p.Gly740=)
17g.42544170G>ACA8577153NAGLUc.2164G>A (p.Asp722Asn)
c.1333G>A (p.Asp445Asn)
c.1165G>A (p.Asp389Asn)
c.2221G>A (p.Asp741Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42544170G>CCA399606297NAGLUc.2164G>C (p.Asp722His)
c.1333G>C (p.Asp445His)
c.1165G>C (p.Asp389His)
c.2221G>C (p.Asp741His)
17g.42544170G=CA2260530645NAGLUc.2164G= (p.Asp722=)
c.1333G= (p.Asp445=)
c.1165G= (p.Asp389=)
c.2221G= (p.Asp741=)
17g.42544170G>TCA399606298NAGLUc.2164G>T (p.Asp722Tyr)
c.1333G>T (p.Asp445Tyr)
c.1165G>T (p.Asp389Tyr)
c.2221G>T (p.Asp741Tyr)
17g.42544171A>CCA399606299NAGLUc.2165A>C (p.Asp722Ala)
c.1334A>C (p.Asp445Ala)
c.1166A>C (p.Asp389Ala)
c.2222A>C (p.Asp741Ala)
17g.42544171A>GCA399606300NAGLUc.2165A>G (p.Asp722Gly)
c.1334A>G (p.Asp445Gly)
c.1166A>G (p.Asp389Gly)
c.2222A>G (p.Asp741Gly)
17g.42544171A>TCA399606301NAGLUc.2165A>T (p.Asp722Val)
c.1334A>T (p.Asp445Val)
c.1166A>T (p.Asp389Val)
c.2222A>T (p.Asp741Val)
17g.42544172C>ACA399606302NAGLUc.2166C>A (p.Asp722Glu)
c.1335C>A (p.Asp445Glu)
c.1167C>A (p.Asp389Glu)
c.2223C>A (p.Asp741Glu)
17g.42544172C>GCA399606303NAGLUc.2166C>G (p.Asp722Glu)
c.1335C>G (p.Asp445Glu)
c.1167C>G (p.Asp389Glu)
c.2223C>G (p.Asp741Glu)
17g.42544172C>TCA500217856NAGLUc.2166C>T (p.Asp722=)
c.1335C>T (p.Asp445=)
c.1167C>T (p.Asp389=)
c.2223C>T (p.Asp741=)
17g.42544173A>CCA399606304NAGLUc.2167A>C (p.Thr723Pro)
c.1336A>C (p.Thr446Pro)
c.1168A>C (p.Thr390Pro)
c.2224A>C (p.Thr742Pro)
17g.42544173A>GCA399606305NAGLUc.2167A>G (p.Thr723Ala)
c.1336A>G (p.Thr446Ala)
c.1168A>G (p.Thr390Ala)
c.2224A>G (p.Thr742Ala)
17g.42544173A>TCA399606306NAGLUc.2167A>T (p.Thr723Ser)
c.1336A>T (p.Thr446Ser)
c.1168A>T (p.Thr390Ser)
c.2224A>T (p.Thr742Ser)
17g.42544174C>ACA399606307NAGLUc.2168C>A (p.Thr723Asn)
c.1337C>A (p.Thr446Asn)
c.1169C>A (p.Thr390Asn)
c.2225C>A (p.Thr742Asn)
17g.42544174C>GCA399606308NAGLUc.2168C>G (p.Thr723Ser)
c.1337C>G (p.Thr446Ser)
c.1169C>G (p.Thr390Ser)
c.2225C>G (p.Thr742Ser)
 gnomAD v4
17g.42544174C>TCA399606309NAGLUc.2168C>T (p.Thr723Ile)
c.1337C>T (p.Thr446Ile)
c.1169C>T (p.Thr390Ile)
c.2225C>T (p.Thr742Ile)
17g.42544175T>ACA500217879NAGLUc.2169T>A (p.Thr723=)
c.1338T>A (p.Thr446=)
c.1170T>A (p.Thr390=)
c.2226T>A (p.Thr742=)
17g.42544175T>CCA500217870NAGLUc.2169T>C (p.Thr723=)
c.1338T>C (p.Thr446=)
c.1170T>C (p.Thr390=)
c.2226T>C (p.Thr742=)
 ClinVar dbSNP
17g.42544175T>GCA500217872NAGLUc.2169T>G (p.Thr723=)
c.1338T>G (p.Thr446=)
c.1170T>G (p.Thr390=)
c.2226T>G (p.Thr742=)
17g.42544177_42544178delCA645588253NAGLUc.2171_2172del (p.Val724GlyfsTer?)
c.1340_1341del (p.Val447GlyfsTer?)
c.1172_1173del (p.Val391GlyfsTer?)
c.2228_2229del (p.Val743GlyfsTer?)
 ClinVar dbSNP gnomAD v4 COSMIC
17g.42544176G>ACA399606310NAGLUc.2170G>A (p.Val724Met)
c.1339G>A (p.Val447Met)
c.1171G>A (p.Val391Met)
c.2227G>A (p.Val743Met)
 dbSNP
17g.42544176G>CCA399606311NAGLUc.2170G>C (p.Val724Leu)
c.1339G>C (p.Val447Leu)
c.1171G>C (p.Val391Leu)
c.2227G>C (p.Val743Leu)
17g.42544176G=CA2260530646NAGLUc.2170G= (p.Val724=)
c.1339G= (p.Val447=)
c.1171G= (p.Val391=)
c.2227G= (p.Val743=)
17g.42544176G>TCA399606312NAGLUc.2170G>T (p.Val724Leu)
c.1339G>T (p.Val447Leu)
c.1171G>T (p.Val391Leu)
c.2227G>T (p.Val743Leu)
17g.42544177T>ACA399606313NAGLUc.2171T>A (p.Val724Glu)
c.1340T>A (p.Val447Glu)
c.1172T>A (p.Val391Glu)
c.2228T>A (p.Val743Glu)
17g.42544177T>CCA399606314NAGLUc.2171T>C (p.Val724Ala)
c.1340T>C (p.Val447Ala)
c.1172T>C (p.Val391Ala)
c.2228T>C (p.Val743Ala)
17g.42544177T>GCA399606315NAGLUc.2171T>G (p.Val724Gly)
c.1340T>G (p.Val447Gly)
c.1172T>G (p.Val391Gly)
c.2228T>G (p.Val743Gly)
17g.42544178G>ACA500217904NAGLUc.2172G>A (p.Val724=)
c.1341G>A (p.Val447=)
c.1173G>A (p.Val391=)
c.2229G>A (p.Val743=)
17g.42544178G>CCA500217907NAGLUc.2172G>C (p.Val724=)
c.1341G>C (p.Val447=)
c.1173G>C (p.Val391=)
c.2229G>C (p.Val743=)
17g.42544178G>TCA500217903NAGLUc.2172G>T (p.Val724=)
c.1341G>T (p.Val447=)
c.1173G>T (p.Val391=)
c.2229G>T (p.Val743=)
17g.42544179G>ACA399606317NAGLUc.2173G>A (p.Asp725Asn)
c.1342G>A (p.Asp448Asn)
c.1174G>A (p.Asp392Asn)
c.2230G>A (p.Asp744Asn)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.42544179G>CCA399606318NAGLUc.2173G>C (p.Asp725His)
c.1342G>C (p.Asp448His)
c.1174G>C (p.Asp392His)
c.2230G>C (p.Asp744His)
17g.42544179G=CA2260530647NAGLUc.2173G= (p.Asp725=)
c.1342G= (p.Asp448=)
c.1174G= (p.Asp392=)
c.2230G= (p.Asp744=)
17g.42544179G>TCA399606316NAGLUc.2173G>T (p.Asp725Tyr)
c.1342G>T (p.Asp448Tyr)
c.1174G>T (p.Asp392Tyr)
c.2230G>T (p.Asp744Tyr)
 gnomAD v4
17g.42544180delCA2537986853NAGLUc.2174del (p.Asp725AlafsTer?)
c.1343del (p.Asp448AlafsTer?)
c.1175del (p.Asp392AlafsTer?)
c.2231del (p.Asp744AlafsTer?)
17g.42544180A>CCA399606319NAGLUc.2174A>C (p.Asp725Ala)
c.1343A>C (p.Asp448Ala)
c.1175A>C (p.Asp392Ala)
c.2231A>C (p.Asp744Ala)
17g.42544180A>GCA399606320NAGLUc.2174A>G (p.Asp725Gly)
c.1343A>G (p.Asp448Gly)
c.1175A>G (p.Asp392Gly)
c.2231A>G (p.Asp744Gly)
17g.42544180A>TCA399606321NAGLUc.2174A>T (p.Asp725Val)
c.1343A>T (p.Asp448Val)
c.1175A>T (p.Asp392Val)
c.2231A>T (p.Asp744Val)
 gnomAD v4
17g.42544181C>ACA399606322NAGLUc.2175C>A (p.Asp725Glu)
c.1344C>A (p.Asp448Glu)
c.1176C>A (p.Asp392Glu)
c.2232C>A (p.Asp744Glu)
17g.42544181C>GCA399606323NAGLUc.2175C>G (p.Asp725Glu)
c.1344C>G (p.Asp448Glu)
c.1176C>G (p.Asp392Glu)
c.2232C>G (p.Asp744Glu)
17g.42544181C>TCA500217935NAGLUc.2175C>T (p.Asp725=)
c.1344C>T (p.Asp448=)
c.1176C>T (p.Asp392=)
c.2232C>T (p.Asp744=)
 gnomAD v4
17g.42544182C>ACA399606325NAGLUc.2176C>A (p.Leu726Met)
c.1345C>A (p.Leu449Met)
c.1177C>A (p.Leu393Met)
c.2233C>A (p.Leu745Met)
17g.42544182C=CA2260530648NAGLUc.2176C= (p.Leu726=)
c.1345C= (p.Leu449=)
c.1177C= (p.Leu393=)
c.2233C= (p.Leu745=)
17g.42544182C>GCA399606324NAGLUc.2176C>G (p.Leu726Val)
c.1345C>G (p.Leu449Val)
c.1177C>G (p.Leu393Val)
c.2233C>G (p.Leu745Val)
17g.42544182C>TCA500217939NAGLUc.2176C>T (p.Leu726=)
c.1345C>T (p.Leu449=)
c.1177C>T (p.Leu393=)
c.2233C>T (p.Leu745=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.42544183T>ACA399606326NAGLUc.2177T>A (p.Leu726Gln)
c.1346T>A (p.Leu449Gln)
c.1178T>A (p.Leu393Gln)
c.2234T>A (p.Leu745Gln)
17g.42544183T>CCA399606327NAGLUc.2177T>C (p.Leu726Pro)
c.1346T>C (p.Leu449Pro)
c.1178T>C (p.Leu393Pro)
c.2234T>C (p.Leu745Pro)
 dbSNP gnomAD v3 gnomAD v4
17g.42544183T>GCA399606328NAGLUc.2177T>G (p.Leu726Arg)
c.1346T>G (p.Leu449Arg)
c.1178T>G (p.Leu393Arg)
c.2234T>G (p.Leu745Arg)
17g.42544183T=CA2260530649NAGLUc.2177T= (p.Leu726=)
c.1346T= (p.Leu449=)
c.1178T= (p.Leu393=)
c.2234T= (p.Leu745=)
17g.42544184G>ACA500217956NAGLUc.2178G>A (p.Leu726=)
c.1347G>A (p.Leu449=)
c.1179G>A (p.Leu393=)
c.2235G>A (p.Leu745=)
17g.42544184G>CCA500217959NAGLUc.2178G>C (p.Leu726=)
c.1347G>C (p.Leu449=)
c.1179G>C (p.Leu393=)
c.2235G>C (p.Leu745=)
17g.42544184G>TCA500217958NAGLUc.2178G>T (p.Leu726=)
c.1347G>T (p.Leu449=)
c.1179G>T (p.Leu393=)
c.2235G>T (p.Leu745=)
 gnomAD v4
17g.42544185G>ACA399606329NAGLUc.2179G>A (p.Ala727Thr)
c.1348G>A (p.Ala450Thr)
c.1180G>A (p.Ala394Thr)
c.2236G>A (p.Ala746Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.42544185G>CCA399606330NAGLUc.2179G>C (p.Ala727Pro)
c.1348G>C (p.Ala450Pro)
c.1180G>C (p.Ala394Pro)
c.2236G>C (p.Ala746Pro)
17g.42544185G=CA2260530650NAGLUc.2179G= (p.Ala727=)
c.1348G= (p.Ala450=)
c.1180G= (p.Ala394=)
c.2236G= (p.Ala746=)
17g.42544185G>TCA399606331NAGLUc.2179G>T (p.Ala727Ser)
c.1348G>T (p.Ala450Ser)
c.1180G>T (p.Ala394Ser)
c.2236G>T (p.Ala746Ser)
 gnomAD v4
17g.42544186C>ACA399606335NAGLUc.2180C>A (p.Ala727Asp)
c.1349C>A (p.Ala450Asp)
c.1181C>A (p.Ala394Asp)
c.2237C>A (p.Ala746Asp)
 gnomAD v4
17g.42544186C>GCA399606333NAGLUc.2180C>G (p.Ala727Gly)
c.1349C>G (p.Ala450Gly)
c.1181C>G (p.Ala394Gly)
c.2237C>G (p.Ala746Gly)
17g.42544186C>TCA399606332NAGLUc.2180C>T (p.Ala727Val)
c.1349C>T (p.Ala450Val)
c.1181C>T (p.Ala394Val)
c.2237C>T (p.Ala746Val)
17g.42544187C>ACA500218007NAGLUc.2181C>A (p.Ala727=)
c.1350C>A (p.Ala450=)
c.1182C>A (p.Ala394=)
c.2238C>A (p.Ala746=)
17g.42544187C>GCA500218011NAGLUc.2181C>G (p.Ala727=)
c.1350C>G (p.Ala450=)
c.1182C>G (p.Ala394=)
c.2238C>G (p.Ala746=)
 gnomAD v4
17g.42544187C>TCA500218017NAGLUc.2181C>T (p.Ala727=)
c.1350C>T (p.Ala450=)
c.1182C>T (p.Ala394=)
c.2238C>T (p.Ala746=)
 gnomAD v2
17g.42544187_42544190delCA913012297NAGLUc.2181_2184del (p.Lys728ArgfsTer?)
c.1350_1353del (p.Lys451ArgfsTer?)
c.1182_1185del (p.Lys395ArgfsTer?)
c.2238_2241del (p.Lys747ArgfsTer?)
17g.42544187_42544190delinsCAAGCA2260530651NAGLUc.2181_2184delinsCAAG (p.Ala727=)
c.1350_1353delinsCAAG (p.Ala450=)
c.1182_1185delinsCAAG (p.Ala394=)
c.2238_2241delinsCAAG (p.Ala746=)
17g.42544188A>CCA399606338NAGLUc.2182A>C (p.Lys728Gln)
c.1351A>C (p.Lys451Gln)
c.1183A>C (p.Lys395Gln)
c.2239A>C (p.Lys747Gln)
 gnomAD v4
17g.42544188A>GCA399606340NAGLUc.2182A>G (p.Lys728Glu)
c.1351A>G (p.Lys451Glu)
c.1183A>G (p.Lys395Glu)
c.2239A>G (p.Lys747Glu)
17g.42544188A>TCA399606342NAGLUc.2182A>T (p.Lys728Ter)
c.1351A>T (p.Lys451Ter)
c.1183A>T (p.Lys395Ter)
c.2239A>T (p.Lys747Ter)
17g.42544192_42544194delCA626218627NAGLUc.2186_2188del (p.Lys729del)
c.1355_1357del (p.Lys452del)
c.1187_1189del (p.Lys396del)
c.2243_2245del (p.Lys748del)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.42544189A>CCA399606344NAGLUc.2183A>C (p.Lys728Thr)
c.1352A>C (p.Lys451Thr)
c.1184A>C (p.Lys395Thr)
c.2240A>C (p.Lys747Thr)
17g.42544189A>GCA399606346NAGLUc.2183A>G (p.Lys728Arg)
c.1352A>G (p.Lys451Arg)
c.1184A>G (p.Lys395Arg)
c.2240A>G (p.Lys747Arg)
17g.42544189A>TCA399606347NAGLUc.2183A>T (p.Lys728Met)
c.1352A>T (p.Lys451Met)
c.1184A>T (p.Lys395Met)
c.2240A>T (p.Lys747Met)
17g.42544190G>ACA500218061NAGLUc.2184G>A (p.Lys728=)
c.1353G>A (p.Lys451=)
c.1185G>A (p.Lys395=)
c.2241G>A (p.Lys747=)
 gnomAD v4
17g.42544190G>CCA399606349NAGLUc.2184G>C (p.Lys728Asn)
c.1353G>C (p.Lys451Asn)
c.1185G>C (p.Lys395Asn)
c.2241G>C (p.Lys747Asn)
17g.42544190G>TCA399606351NAGLUc.2184G>T (p.Lys728Asn)
c.1353G>T (p.Lys451Asn)
c.1185G>T (p.Lys395Asn)
c.2241G>T (p.Lys747Asn)
17g.42544191A=CA2260530652NAGLUc.2185A= (p.Lys729=)
c.1354A= (p.Lys452=)
c.1186A= (p.Lys396=)
c.2242A= (p.Lys748=)
17g.42544191A>CCA8577154NAGLUc.2185A>C (p.Lys729Gln)
c.1354A>C (p.Lys452Gln)
c.1186A>C (p.Lys396Gln)
c.2242A>C (p.Lys748Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42544191A>GCA399606356NAGLUc.2185A>G (p.Lys729Glu)
c.1354A>G (p.Lys452Glu)
c.1186A>G (p.Lys396Glu)
c.2242A>G (p.Lys748Glu)
17g.42544191A>TCA399606354NAGLUc.2185A>T (p.Lys729Ter)
c.1354A>T (p.Lys452Ter)
c.1186A>T (p.Lys396Ter)
c.2242A>T (p.Lys748Ter)
17g.42544192A=CA2260530653NAGLUc.2186A= (p.Lys729=)
c.1355A= (p.Lys452=)
c.1187A= (p.Lys396=)
c.2243A= (p.Lys748=)
17g.42544192A>CCA399606358NAGLUc.2186A>C (p.Lys729Thr)
c.1355A>C (p.Lys452Thr)
c.1187A>C (p.Lys396Thr)
c.2243A>C (p.Lys748Thr)
17g.42544192A>GCA8577155NAGLUc.2186A>G (p.Lys729Arg)
c.1355A>G (p.Lys452Arg)
c.1187A>G (p.Lys396Arg)
c.2243A>G (p.Lys748Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.42544192A>TCA399606361NAGLUc.2186A>T (p.Lys729Met)
c.1355A>T (p.Lys452Met)
c.1187A>T (p.Lys396Met)
c.2243A>T (p.Lys748Met)
17g.42544193G>ACA500218097NAGLUc.2187G>A (p.Lys729=)
c.1356G>A (p.Lys452=)
c.1188G>A (p.Lys396=)
c.2244G>A (p.Lys748=)
 gnomAD v4
17g.42544193G>CCA399606364NAGLUc.2187G>C (p.Lys729Asn)
c.1356G>C (p.Lys452Asn)
c.1188G>C (p.Lys396Asn)
c.2244G>C (p.Lys748Asn)
17g.42544193G>TCA399606365NAGLUc.2187G>T (p.Lys729Asn)
c.1356G>T (p.Lys452Asn)
c.1188G>T (p.Lys396Asn)
c.2244G>T (p.Lys748Asn)
17g.42544194A>CCA399606368NAGLUc.2188A>C (p.Ile730Leu)
c.1357A>C (p.Ile453Leu)
c.1189A>C (p.Ile397Leu)
c.2245A>C (p.Ile749Leu)
17g.42544194A>GCA399606371NAGLUc.2188A>G (p.Ile730Val)
c.1357A>G (p.Ile453Val)
c.1189A>G (p.Ile397Val)
c.2245A>G (p.Ile749Val)
17g.42544194A>TCA399606369NAGLUc.2188A>T (p.Ile730Phe)
c.1357A>T (p.Ile453Phe)
c.1189A>T (p.Ile397Phe)
c.2245A>T (p.Ile749Phe)
17g.42544195T>ACA399606374NAGLUc.2189T>A (p.Ile730Asn)
c.1358T>A (p.Ile453Asn)
c.1190T>A (p.Ile397Asn)
c.2246T>A (p.Ile749Asn)
17g.42544195T>CCA399606375NAGLUc.2189T>C (p.Ile730Thr)
c.1358T>C (p.Ile453Thr)
c.1190T>C (p.Ile397Thr)
c.2246T>C (p.Ile749Thr)
17g.42544195T>GCA399606378NAGLUc.2189T>G (p.Ile730Ser)
c.1358T>G (p.Ile453Ser)
c.1190T>G (p.Ile397Ser)
c.2246T>G (p.Ile749Ser)
17g.42544196delCA2695225870NAGLUc.2190del (p.Phe731SerfsTer?)
c.1359del (p.Phe454SerfsTer?)
c.1191del (p.Phe398SerfsTer?)
c.2247del (p.Phe750SerfsTer?)
17g.42544196C>ACA500218116NAGLUc.2190C>A (p.Ile730=)
c.1359C>A (p.Ile453=)
c.1191C>A (p.Ile397=)
c.2247C>A (p.Ile749=)
17g.42544196C>GCA399606380NAGLUc.2190C>G (p.Ile730Met)
c.1359C>G (p.Ile453Met)
c.1191C>G (p.Ile397Met)
c.2247C>G (p.Ile749Met)
17g.42544196C>TCA500218122NAGLUc.2190C>T (p.Ile730=)
c.1359C>T (p.Ile453=)
c.1191C>T (p.Ile397=)
c.2247C>T (p.Ile749=)
17g.42544197T>ACA399606382NAGLUc.2191T>A (p.Phe731Ile)
c.1360T>A (p.Phe454Ile)
c.1192T>A (p.Phe398Ile)
c.2248T>A (p.Phe750Ile)
17g.42544197T>CCA399606385NAGLUc.2191T>C (p.Phe731Leu)
c.1360T>C (p.Phe454Leu)
c.1192T>C (p.Phe398Leu)
c.2248T>C (p.Phe750Leu)
 ClinVar dbSNP
17g.42544197T>GCA8577156NAGLUc.2191T>G (p.Phe731Val)
c.1360T>G (p.Phe454Val)
c.1192T>G (p.Phe398Val)
c.2248T>G (p.Phe750Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.42544197T=CA2260530654NAGLUc.2191T= (p.Phe731=)
c.1360T= (p.Phe454=)
c.1192T= (p.Phe398=)
c.2248T= (p.Phe750=)
17g.42544198T>ACA399606389NAGLUc.2192T>A (p.Phe731Tyr)
c.1361T>A (p.Phe454Tyr)
c.1193T>A (p.Phe398Tyr)
c.2249T>A (p.Phe750Tyr)
17g.42544198T>CCA399606390NAGLUc.2192T>C (p.Phe731Ser)
c.1361T>C (p.Phe454Ser)
c.1193T>C (p.Phe398Ser)
c.2249T>C (p.Phe750Ser)
17g.42544198T>GCA399606392NAGLUc.2192T>G (p.Phe731Cys)
c.1361T>G (p.Phe454Cys)
c.1193T>G (p.Phe398Cys)
c.2249T>G (p.Phe750Cys)
17g.42544199C>ACA399606395NAGLUc.2193C>A (p.Phe731Leu)
c.1362C>A (p.Phe454Leu)
c.1194C>A (p.Phe398Leu)
c.2250C>A (p.Phe750Leu)
17g.42544199C=CA2260530655NAGLUc.2193C= (p.Phe731=)
c.1362C= (p.Phe454=)
c.1194C= (p.Phe398=)
c.2250C= (p.Phe750=)
17g.42544199C>GCA399606397NAGLUc.2193C>G (p.Phe731Leu)
c.1362C>G (p.Phe454Leu)
c.1194C>G (p.Phe398Leu)
c.2250C>G (p.Phe750Leu)
17g.42544199C>TCA500218143NAGLUc.2193C>T (p.Phe731=)
c.1362C>T (p.Phe454=)
c.1194C>T (p.Phe398=)
c.2250C>T (p.Phe750=)
 dbSNP gnomAD v2
17g.42544200C>ACA399606400NAGLUc.2194C>A (p.Leu732Ile)
c.1363C>A (p.Leu455Ile)
c.1195C>A (p.Leu399Ile)
c.2251C>A (p.Leu751Ile)
 gnomAD v4
17g.42544200C>GCA399606404NAGLUc.2194C>G (p.Leu732Val)
c.1363C>G (p.Leu455Val)
c.1195C>G (p.Leu399Val)
c.2251C>G (p.Leu751Val)
17g.42544200C>TCA399606401NAGLUc.2194C>T (p.Leu732Phe)
c.1363C>T (p.Leu455Phe)
c.1195C>T (p.Leu399Phe)
c.2251C>T (p.Leu751Phe)
17g.42544201T>ACA399606406NAGLUc.2195T>A (p.Leu732His)
c.1364T>A (p.Leu455His)
c.1196T>A (p.Leu399His)
c.2252T>A (p.Leu751His)
17g.42544201T>CCA399606408NAGLUc.2195T>C (p.Leu732Pro)
c.1364T>C (p.Leu455Pro)
c.1196T>C (p.Leu399Pro)
c.2252T>C (p.Leu751Pro)
17g.42544201T>GCA399606410NAGLUc.2195T>G (p.Leu732Arg)
c.1364T>G (p.Leu455Arg)
c.1196T>G (p.Leu399Arg)
c.2252T>G (p.Leu751Arg)
17g.42544202C>ACA500218165NAGLUc.2196C>A (p.Leu732=)
c.1365C>A (p.Leu455=)
c.1197C>A (p.Leu399=)
c.2253C>A (p.Leu751=)
 gnomAD v4
17g.42544202C=CA2260530656NAGLUc.2196C= (p.Leu732=)
c.1365C= (p.Leu455=)
c.1197C= (p.Leu399=)
c.2253C= (p.Leu751=)
17g.42544202C>GCA500218174NAGLUc.2196C>G (p.Leu732=)
c.1365C>G (p.Leu455=)
c.1197C>G (p.Leu399=)
c.2253C>G (p.Leu751=)
17g.42544202C>TCA8577157NAGLUc.2196C>T (p.Leu732=)
c.1365C>T (p.Leu455=)
c.1197C>T (p.Leu399=)
c.2253C>T (p.Leu751=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.42544203A>CCA399606412NAGLUc.2197A>C (p.Lys733Gln)
c.1366A>C (p.Lys456Gln)
c.1198A>C (p.Lys400Gln)
c.2254A>C (p.Lys752Gln)
17g.42544203A>GCA399606413NAGLUc.2197A>G (p.Lys733Glu)
c.1366A>G (p.Lys456Glu)
c.1198A>G (p.Lys400Glu)
c.2254A>G (p.Lys752Glu)
17g.42544203A>TCA399606414NAGLUc.2197A>T (p.Lys733Ter)
c.1366A>T (p.Lys456Ter)
c.1198A>T (p.Lys400Ter)
c.2254A>T (p.Lys752Ter)
17g.42544204A>CCA399606417NAGLUc.2198A>C (p.Lys733Thr)
c.1367A>C (p.Lys456Thr)
c.1199A>C (p.Lys400Thr)
c.2255A>C (p.Lys752Thr)
 gnomAD v4
17g.42544204A>GCA399606418NAGLUc.2198A>G (p.Lys733Arg)
c.1367A>G (p.Lys456Arg)
c.1199A>G (p.Lys400Arg)
c.2255A>G (p.Lys752Arg)
17g.42544204A>TCA399606420NAGLUc.2198A>T (p.Lys733Ile)
c.1367A>T (p.Lys456Ile)
c.1199A>T (p.Lys400Ile)
c.2255A>T (p.Lys752Ile)
17g.42544205A>CCA399606423NAGLUc.2199A>C (p.Lys733Asn)
c.1368A>C (p.Lys456Asn)
c.1200A>C (p.Lys400Asn)
c.2256A>C (p.Lys752Asn)
 gnomAD v4
17g.42544205A>GCA500218188NAGLUc.2199A>G (p.Lys733=)
c.1368A>G (p.Lys456=)
c.1200A>G (p.Lys400=)
c.2256A>G (p.Lys752=)
17g.42544205A>TCA399606426NAGLUc.2199A>T (p.Lys733Asn)
c.1368A>T (p.Lys456Asn)
c.1200A>T (p.Lys400Asn)
c.2256A>T (p.Lys752Asn)
17g.42544206T>ACA399606431NAGLUc.2200T>A (p.Tyr734Asn)
c.1369T>A (p.Tyr457Asn)
c.1201T>A (p.Tyr401Asn)
c.2257T>A (p.Tyr753Asn)
17g.42544206T>CCA399606432NAGLUc.2200T>C (p.Tyr734His)
c.1369T>C (p.Tyr457His)
c.1201T>C (p.Tyr401His)
c.2257T>C (p.Tyr753His)
17g.42544206T>GCA399606428NAGLUc.2200T>G (p.Tyr734Asp)
c.1369T>G (p.Tyr457Asp)
c.1201T>G (p.Tyr401Asp)
c.2257T>G (p.Tyr753Asp)
17g.42544206T=CA2260530657NAGLUc.2200T= (p.Tyr734=)
c.1369T= (p.Tyr457=)
c.1201T= (p.Tyr401=)
c.2257T= (p.Tyr753=)
17g.42544208_42544210dupCA2637976289NAGLUc.2202_2204dup (p.Tyr735_Pro736insTyr)
c.1371_1373dup (p.Tyr458_Pro459insTyr)
c.1203_1205dup (p.Tyr402_Pro403insTyr)
c.2259_2261dup (p.Tyr754_Pro755insTyr)
 gnomAD v4
17g.42544207A>CCA399606435NAGLUc.2201A>C (p.Tyr734Ser)
c.1370A>C (p.Tyr457Ser)
c.1202A>C (p.Tyr401Ser)
c.2258A>C (p.Tyr753Ser)
17g.42544207A>GCA399606437NAGLUc.2201A>G (p.Tyr734Cys)
c.1370A>G (p.Tyr457Cys)
c.1202A>G (p.Tyr401Cys)
c.2258A>G (p.Tyr753Cys)
 ClinVar dbSNP
17g.42544207A>TCA399606438NAGLUc.2201A>T (p.Tyr734Phe)
c.1370A>T (p.Tyr457Phe)
c.1202A>T (p.Tyr401Phe)
c.2258A>T (p.Tyr753Phe)
17g.42544207_42544210dupCA1139665543NAGLUc.2201_2204dup (p.Tyr735Ter)
c.1370_1373dup (p.Tyr458Ter)
c.1202_1205dup (p.Tyr402Ter)
c.2258_2261dup (p.Tyr754Ter)
 ClinVar dbSNP
17g.42544208T>ACA399606440NAGLUc.2202T>A (p.Tyr734Ter)
c.1371T>A (p.Tyr457Ter)
c.1203T>A (p.Tyr401Ter)
c.2259T>A (p.Tyr753Ter)
17g.42544208T>CCA500218213NAGLUc.2202T>C (p.Tyr734=)
c.1371T>C (p.Tyr457=)
c.1203T>C (p.Tyr401=)
c.2259T>C (p.Tyr753=)
17g.42544208T>GCA399606442NAGLUc.2202T>G (p.Tyr734Ter)
c.1371T>G (p.Tyr457Ter)
c.1203T>G (p.Tyr401Ter)
c.2259T>G (p.Tyr753Ter)
17g.42544209delCA2809525074NAGLUc.2203del (p.Tyr735ThrfsTer?)
c.1372del (p.Tyr458ThrfsTer?)
c.1204del (p.Tyr402ThrfsTer?)
c.2260del (p.Tyr754ThrfsTer?)
17g.42544209T>ACA399606449NAGLUc.2203T>A (p.Tyr735Asn)
c.1372T>A (p.Tyr458Asn)
c.1204T>A (p.Tyr402Asn)
c.2260T>A (p.Tyr754Asn)
17g.42544209T>CCA399606445NAGLUc.2203T>C (p.Tyr735His)
c.1372T>C (p.Tyr458His)
c.1204T>C (p.Tyr402His)
c.2260T>C (p.Tyr754His)
17g.42544209T>GCA399606446NAGLUc.2203T>G (p.Tyr735Asp)
c.1372T>G (p.Tyr458Asp)
c.1204T>G (p.Tyr402Asp)
c.2260T>G (p.Tyr754Asp)
17g.42544210A>CCA399606453NAGLUc.2204A>C (p.Tyr735Ser)
c.1373A>C (p.Tyr458Ser)
c.1205A>C (p.Tyr402Ser)
c.2261A>C (p.Tyr754Ser)
 gnomAD v3 gnomAD v4
17g.42544210A>GCA399606455NAGLUc.2204A>G (p.Tyr735Cys)
c.1373A>G (p.Tyr458Cys)
c.1205A>G (p.Tyr402Cys)
c.2261A>G (p.Tyr754Cys)
17g.42544210A>TCA399606456NAGLUc.2204A>T (p.Tyr735Phe)
c.1373A>T (p.Tyr458Phe)
c.1205A>T (p.Tyr402Phe)
c.2261A>T (p.Tyr754Phe)
17g.42544211C>ACA399606457NAGLUc.2205C>A (p.Tyr735Ter)
c.1374C>A (p.Tyr458Ter)
c.1206C>A (p.Tyr402Ter)
c.2262C>A (p.Tyr754Ter)
 ClinVar
17g.42544211C=CA2260530658NAGLUc.2205C= (p.Tyr735=)
c.1374C= (p.Tyr458=)
c.1206C= (p.Tyr402=)
c.2262C= (p.Tyr754=)
17g.42544211C>GCA399606459NAGLUc.2205C>G (p.Tyr735Ter)
c.1374C>G (p.Tyr458Ter)
c.1206C>G (p.Tyr402Ter)
c.2262C>G (p.Tyr754Ter)
17g.42544211C>TCA500218234NAGLUc.2205C>T (p.Tyr735=)
c.1374C>T (p.Tyr458=)
c.1206C>T (p.Tyr402=)
c.2262C>T (p.Tyr754=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.42544212C>ACA399606461NAGLUc.2206C>A (p.Pro736Thr)
c.1375C>A (p.Pro459Thr)
c.1207C>A (p.Pro403Thr)
c.2263C>A (p.Pro755Thr)
17g.42544212C=CA2260530659NAGLUc.2206C= (p.Pro736=)
c.1375C= (p.Pro459=)
c.1207C= (p.Pro403=)
c.2263C= (p.Pro755=)
17g.42544212C>GCA290781273NAGLUc.2206C>G (p.Pro736Ala)
c.1375C>G (p.Pro459Ala)
c.1207C>G (p.Pro403Ala)
c.2263C>G (p.Pro755Ala)
 dbSNP
17g.42544212C>TCA399606463NAGLUc.2206C>T (p.Pro736Ser)
c.1375C>T (p.Pro459Ser)
c.1207C>T (p.Pro403Ser)
c.2263C>T (p.Pro755Ser)
17g.42544213C>ACA399606465NAGLUc.2207C>A (p.Pro736His)
c.1376C>A (p.Pro459His)
c.1208C>A (p.Pro403His)
c.2264C>A (p.Pro755His)
17g.42544213C=CA2260530660NAGLUc.2207C= (p.Pro736=)
c.1376C= (p.Pro459=)
c.1208C= (p.Pro403=)
c.2264C= (p.Pro755=)
17g.42544213C>GCA399606468NAGLUc.2207C>G (p.Pro736Arg)
c.1376C>G (p.Pro459Arg)
c.1208C>G (p.Pro403Arg)
c.2264C>G (p.Pro755Arg)
 gnomAD v4
17g.42544213C>TCA8577158NAGLUc.2207C>T (p.Pro736Leu)
c.1376C>T (p.Pro459Leu)
c.1208C>T (p.Pro403Leu)
c.2264C>T (p.Pro755Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42544214C>ACA500218260NAGLUc.2208C>A (p.Pro736=)
c.1377C>A (p.Pro459=)
c.1209C>A (p.Pro403=)
c.2265C>A (p.Pro755=)
17g.42544214C=CA2260530661NAGLUc.2208C= (p.Pro736=)
c.1377C= (p.Pro459=)
c.1209C= (p.Pro403=)
c.2265C= (p.Pro755=)
17g.42544214C>GCA500218266NAGLUc.2208C>G (p.Pro736=)
c.1377C>G (p.Pro459=)
c.1209C>G (p.Pro403=)
c.2265C>G (p.Pro755=)
17g.42544214C>TCA8577159NAGLUc.2208C>T (p.Pro736=)
c.1377C>T (p.Pro459=)
c.1209C>T (p.Pro403=)
c.2265C>T (p.Pro755=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17g.42544214_42544215delinsCCCA2260530662NAGLUc.2208_2209delinsCC (p.Pro736=)
c.1377_1378delinsCC (p.Pro459=)
c.1209_1210delinsCC (p.Pro403=)
c.2265_2266delinsCC (p.Pro755=)
17g.42544214_42544215delinsTGCA1139665544NAGLUc.2208_2209delinsTG (p.Arg737Gly)
c.1377_1378delinsTG (p.Arg460Gly)
c.1209_1210delinsTG (p.Arg404Gly)
c.2265_2266delinsTG (p.Arg756Gly)
 ClinVar dbSNP
17g.42544215C>ACA145927NAGLUc.2209C>A (p.Arg737Ser)
c.1378C>A (p.Arg460Ser)
c.1210C>A (p.Arg404Ser)
c.2266C>A (p.Arg756Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42544215C=CA2260530663NAGLUc.2209C= (p.Arg737=)
c.1378C= (p.Arg460=)
c.1210C= (p.Arg404=)
c.2266C= (p.Arg756=)
17g.42544215C>GCA145929NAGLUc.2209C>G (p.Arg737Gly)
c.1378C>G (p.Arg460Gly)
c.1210C>G (p.Arg404Gly)
c.2266C>G (p.Arg756Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42544215C>TCA8577160NAGLUc.2209C>T (p.Arg737Cys)
c.1378C>T (p.Arg460Cys)
c.1210C>T (p.Arg404Cys)
c.2266C>T (p.Arg756Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42544216G>ACA8577161NAGLUc.2210G>A (p.Arg737His)
c.1379G>A (p.Arg460His)
c.1211G>A (p.Arg404His)
c.2267G>A (p.Arg756His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42544216G>CCA399606475NAGLUc.2210G>C (p.Arg737Pro)
c.1379G>C (p.Arg460Pro)
c.1211G>C (p.Arg404Pro)
c.2267G>C (p.Arg756Pro)
17g.42544216G=CA2260530664NAGLUc.2210G= (p.Arg737=)
c.1379G= (p.Arg460=)
c.1211G= (p.Arg404=)
c.2267G= (p.Arg756=)
17g.42544216G>TCA399606476NAGLUc.2210G>T (p.Arg737Leu)
c.1379G>T (p.Arg460Leu)
c.1211G>T (p.Arg404Leu)
c.2267G>T (p.Arg756Leu)
17g.42544217C>ACA500218286NAGLUc.2211C>A (p.Arg737=)
c.1380C>A (p.Arg460=)
c.1212C>A (p.Arg404=)
c.2268C>A (p.Arg756=)
17g.42544217C=CA2260530665NAGLUc.2211C= (p.Arg737=)
c.1380C= (p.Arg460=)
c.1212C= (p.Arg404=)
c.2268C= (p.Arg756=)
17g.42544217C>GCA500218288NAGLUc.2211C>G (p.Arg737=)
c.1380C>G (p.Arg460=)
c.1212C>G (p.Arg404=)
c.2268C>G (p.Arg756=)
17g.42544217C>TCA500218297NAGLUc.2211C>T (p.Arg737=)
c.1380C>T (p.Arg460=)
c.1212C>T (p.Arg404=)
c.2268C>T (p.Arg756=)
 ClinVar dbSNP gnomAD v2
17g.42544218T>ACA399606479NAGLUc.2212T>A (p.Trp738Arg)
c.1381T>A (p.Trp461Arg)
c.1213T>A (p.Trp405Arg)
c.2269T>A (p.Trp757Arg)
17g.42544218T>CCA399606480NAGLUc.2212T>C (p.Trp738Arg)
c.1381T>C (p.Trp461Arg)
c.1213T>C (p.Trp405Arg)
c.2269T>C (p.Trp757Arg)
 gnomAD v4
17g.42544218T>GCA399606482NAGLUc.2212T>G (p.Trp738Gly)
c.1381T>G (p.Trp461Gly)
c.1213T>G (p.Trp405Gly)
c.2269T>G (p.Trp757Gly)
17g.42544219G>ACA399606484NAGLUc.2213G>A (p.Trp738Ter)
c.1382G>A (p.Trp461Ter)
c.1214G>A (p.Trp405Ter)
c.2270G>A (p.Trp757Ter)
17g.42544219G>CCA399606486NAGLUc.2213G>C (p.Trp738Ser)
c.1382G>C (p.Trp461Ser)
c.1214G>C (p.Trp405Ser)
c.2270G>C (p.Trp757Ser)
17g.42544219G>TCA399606488NAGLUc.2213G>T (p.Trp738Leu)
c.1382G>T (p.Trp461Leu)
c.1214G>T (p.Trp405Leu)
c.2270G>T (p.Trp757Leu)
17g.42544220G>ACA399606490NAGLUc.2214G>A (p.Trp738Ter)
c.1383G>A (p.Trp461Ter)
c.1215G>A (p.Trp405Ter)
c.2271G>A (p.Trp757Ter)
 ClinVar gnomAD v4
17g.42544220G>CCA399606494NAGLUc.2214G>C (p.Trp738Cys)
c.1383G>C (p.Trp461Cys)
c.1215G>C (p.Trp405Cys)
c.2271G>C (p.Trp757Cys)
17g.42544220G=CA2260530666NAGLUc.2214G= (p.Trp738=)
c.1383G= (p.Trp461=)
c.1215G= (p.Trp405=)
c.2271G= (p.Trp757=)
17g.42544220G>TCA399606492NAGLUc.2214G>T (p.Trp738Cys)
c.1383G>T (p.Trp461Cys)
c.1215G>T (p.Trp405Cys)
c.2271G>T (p.Trp757Cys)
 dbSNP gnomAD v4
17g.42544221G>ACA399606497NAGLUc.2215G>A (p.Val739Met)
c.1384G>A (p.Val462Met)
c.1216G>A (p.Val406Met)
c.2272G>A (p.Val758Met)
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.42544221G>CCA399606499NAGLUc.2215G>C (p.Val739Leu)
c.1384G>C (p.Val462Leu)
c.1216G>C (p.Val406Leu)
c.2272G>C (p.Val758Leu)
17g.42544221G=CA2260530667NAGLUc.2215G= (p.Val739=)
c.1384G= (p.Val462=)
c.1216G= (p.Val406=)
c.2272G= (p.Val758=)
17g.42544221G>TCA399606501NAGLUc.2215G>T (p.Val739Leu)
c.1384G>T (p.Val462Leu)
c.1216G>T (p.Val406Leu)
c.2272G>T (p.Val758Leu)
 gnomAD v4
17g.42544222T>ACA399606503NAGLUc.2216T>A (p.Val739Glu)
c.1385T>A (p.Val462Glu)
c.1217T>A (p.Val406Glu)
c.2273T>A (p.Val758Glu)
17g.42544222T>CCA290781288NAGLUc.2216T>C (p.Val739Ala)
c.1385T>C (p.Val462Ala)
c.1217T>C (p.Val406Ala)
c.2273T>C (p.Val758Ala)
 dbSNP gnomAD v2 gnomAD v4
17g.42544222T>GCA399606506NAGLUc.2216T>G (p.Val739Gly)
c.1385T>G (p.Val462Gly)
c.1217T>G (p.Val406Gly)
c.2273T>G (p.Val758Gly)
 gnomAD v4
17g.42544222T=CA2260530668NAGLUc.2216T= (p.Val739=)
c.1385T= (p.Val462=)
c.1217T= (p.Val406=)
c.2273T= (p.Val758=)
17g.42544223G>ACA500216964NAGLUc.2217G>A (p.Val739=)
c.1386G>A (p.Val462=)
c.1218G>A (p.Val406=)
c.2274G>A (p.Val758=)
 dbSNP gnomAD v2
17g.42544223G>CCA500216962NAGLUc.2217G>C (p.Val739=)
c.1386G>C (p.Val462=)
c.1218G>C (p.Val406=)
c.2274G>C (p.Val758=)
17g.42544223G=CA2260530669NAGLUc.2217G= (p.Val739=)
c.1386G= (p.Val462=)
c.1218G= (p.Val406=)
c.2274G= (p.Val758=)
17g.42544223G>TCA500216963NAGLUc.2217G>T (p.Val739=)
c.1386G>T (p.Val462=)
c.1218G>T (p.Val406=)
c.2274G>T (p.Val758=)
 gnomAD v4
17g.42544224G>ACA399606509NAGLUc.2218G>A (p.Ala740Thr)
c.1387G>A (p.Ala463Thr)
c.1219G>A (p.Ala407Thr)
c.2275G>A (p.Ala759Thr)
 ClinVar gnomAD v4
17g.42544224G>CCA8577162NAGLUc.2218G>C (p.Ala740Pro)
c.1387G>C (p.Ala463Pro)
c.1219G>C (p.Ala407Pro)
c.2275G>C (p.Ala759Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42544224G=CA2260530670NAGLUc.2218G= (p.Ala740=)
c.1387G= (p.Ala463=)
c.1219G= (p.Ala407=)
c.2275G= (p.Ala759=)
17g.42544224G>TCA399606512NAGLUc.2218G>T (p.Ala740Ser)
c.1387G>T (p.Ala463Ser)
c.1219G>T (p.Ala407Ser)
c.2275G>T (p.Ala759Ser)
 gnomAD v4
17g.42544225C>ACA399606519NAGLUc.2219C>A (p.Ala740Asp)
c.1388C>A (p.Ala463Asp)
c.1220C>A (p.Ala407Asp)
c.2276C>A (p.Ala759Asp)
17g.42544225C>GCA399606517NAGLUc.2219C>G (p.Ala740Gly)
c.1388C>G (p.Ala463Gly)
c.1220C>G (p.Ala407Gly)
c.2276C>G (p.Ala759Gly)
17g.42544225C>TCA399606515NAGLUc.2219C>T (p.Ala740Val)
c.1388C>T (p.Ala463Val)
c.1220C>T (p.Ala407Val)
c.2276C>T (p.Ala759Val)
 gnomAD v4
17g.42544226C>ACA500216966NAGLUc.2220C>A (p.Ala740=)
c.1389C>A (p.Ala463=)
c.1221C>A (p.Ala407=)
c.2277C>A (p.Ala759=)
 gnomAD v4
17g.42544226C=CA2260530671NAGLUc.2220C= (p.Ala740=)
c.1389C= (p.Ala463=)
c.1221C= (p.Ala407=)
c.2277C= (p.Ala759=)
17g.42544226C>GCA500216965NAGLUc.2220C>G (p.Ala740=)
c.1389C>G (p.Ala463=)
c.1221C>G (p.Ala407=)
c.2277C>G (p.Ala759=)
17g.42544226C>TCA8577163NAGLUc.2220C>T (p.Ala740=)
c.1389C>T (p.Ala463=)
c.1221C>T (p.Ala407=)
c.2277C>T (p.Ala759=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42544227G>ACA8577164NAGLUc.2221G>A (p.Gly741Ser)
c.1390G>A (p.Gly464Ser)
c.1222G>A (p.Gly408Ser)
c.2278G>A (p.Gly760Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42544227G>CCA399606524NAGLUc.2221G>C (p.Gly741Arg)
c.1390G>C (p.Gly464Arg)
c.1222G>C (p.Gly408Arg)
c.2278G>C (p.Gly760Arg)
17g.42544227G=CA2260530672NAGLUc.2221G= (p.Gly741=)
c.1390G= (p.Gly464=)
c.1222G= (p.Gly408=)
c.2278G= (p.Gly760=)
17g.42544227G>TCA399606526NAGLUc.2221G>T (p.Gly741Cys)
c.1390G>T (p.Gly464Cys)
c.1222G>T (p.Gly408Cys)
c.2278G>T (p.Gly760Cys)
 gnomAD v4
17g.42544228G>ACA399606528NAGLUc.2222G>A (p.Gly741Asp)
c.1391G>A (p.Gly464Asp)
c.1223G>A (p.Gly408Asp)
c.2279G>A (p.Gly760Asp)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.42544228G>CCA399606530NAGLUc.2222G>C (p.Gly741Ala)
c.1391G>C (p.Gly464Ala)
c.1223G>C (p.Gly408Ala)
c.2279G>C (p.Gly760Ala)
17g.42544228G=CA2260530673NAGLUc.2222G= (p.Gly741=)
c.1391G= (p.Gly464=)
c.1223G= (p.Gly408=)
c.2279G= (p.Gly760=)
17g.42544228G>TCA399606532NAGLUc.2222G>T (p.Gly741Val)
c.1391G>T (p.Gly464Val)
c.1223G>T (p.Gly408Val)
c.2279G>T (p.Gly760Val)
 gnomAD v4
17g.42544229C>ACA500216968NAGLUc.2223C>A (p.Gly741=)
c.1392C>A (p.Gly464=)
c.1224C>A (p.Gly408=)
c.2280C>A (p.Gly760=)
17g.42544229C>GCA500216967NAGLUc.2223C>G (p.Gly741=)
c.1392C>G (p.Gly464=)
c.1224C>G (p.Gly408=)
c.2280C>G (p.Gly760=)
17g.42544229C>TCA500216969NAGLUc.2223C>T (p.Gly741=)
c.1392C>T (p.Gly464=)
c.1224C>T (p.Gly408=)
c.2280C>T (p.Gly760=)
17g.42544230T>ACA399606534NAGLUc.2224T>A (p.Ser742Thr)
c.1393T>A (p.Ser465Thr)
c.1225T>A (p.Ser409Thr)
c.2281T>A (p.Ser761Thr)
17g.42544230T>CCA399606536NAGLUc.2224T>C (p.Ser742Pro)
c.1393T>C (p.Ser465Pro)
c.1225T>C (p.Ser409Pro)
c.2281T>C (p.Ser761Pro)
17g.42544230T>GCA399606538NAGLUc.2224T>G (p.Ser742Ala)
c.1393T>G (p.Ser465Ala)
c.1225T>G (p.Ser409Ala)
c.2281T>G (p.Ser761Ala)
17g.42544231C>ACA399606541NAGLUc.2225C>A (p.Ser742Tyr)
c.1394C>A (p.Ser465Tyr)
c.1226C>A (p.Ser409Tyr)
c.2282C>A (p.Ser761Tyr)
17g.42544231C>GCA399606543NAGLUc.2225C>G (p.Ser742Cys)
c.1394C>G (p.Ser465Cys)
c.1226C>G (p.Ser409Cys)
c.2282C>G (p.Ser761Cys)
 ClinVar gnomAD v4
17g.42544231C>TCA399606545NAGLUc.2225C>T (p.Ser742Phe)
c.1394C>T (p.Ser465Phe)
c.1226C>T (p.Ser409Phe)
c.2282C>T (p.Ser761Phe)
 COSMIC
17g.42544232T>ACA500216970NAGLUc.2226T>A (p.Ser742=)
c.1395T>A (p.Ser465=)
c.1227T>A (p.Ser409=)
c.2283T>A (p.Ser761=)
17g.42544232T>CCA500216972NAGLUc.2226T>C (p.Ser742=)
c.1395T>C (p.Ser465=)
c.1227T>C (p.Ser409=)
c.2283T>C (p.Ser761=)
17g.42544232T>GCA500216971NAGLUc.2226T>G (p.Ser742=)
c.1395T>G (p.Ser465=)
c.1227T>G (p.Ser409=)
c.2283T>G (p.Ser761=)
17g.42544233T>ACA399606551NAGLUc.2227T>A (p.Trp743Arg)
c.1396T>A (p.Trp466Arg)
c.1228T>A (p.Trp410Arg)
c.2284T>A (p.Trp762Arg)
17g.42544233T>CCA399606547NAGLUc.2227T>C (p.Trp743Arg)
c.1396T>C (p.Trp466Arg)
c.1228T>C (p.Trp410Arg)
c.2284T>C (p.Trp762Arg)
17g.42544233T>GCA399606549NAGLUc.2227T>G (p.Trp743Gly)
c.1396T>G (p.Trp466Gly)
c.1228T>G (p.Trp410Gly)
c.2284T>G (p.Trp762Gly)
17g.42544234G>ACA399606553NAGLUc.2228G>A (p.Trp743Ter)
c.1397G>A (p.Trp466Ter)
c.1229G>A (p.Trp410Ter)
c.2285G>A (p.Trp762Ter)
 gnomAD v4
17g.42544234G>CCA399606556NAGLUc.2228G>C (p.Trp743Ser)
c.1397G>C (p.Trp466Ser)
c.1229G>C (p.Trp410Ser)
c.2285G>C (p.Trp762Ser)
17g.42544234G>TCA399606558NAGLUc.2228G>T (p.Trp743Leu)
c.1397G>T (p.Trp466Leu)
c.1229G>T (p.Trp410Leu)
c.2285G>T (p.Trp762Leu)
17g.42544235G>ACA8577165NAGLUc.2229G>A (p.Trp743Ter)
c.1398G>A (p.Trp466Ter)
c.1230G>A (p.Trp410Ter)
c.2286G>A (p.Trp762Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42544235G>CCA399606561NAGLUc.2229G>C (p.Trp743Cys)
c.1398G>C (p.Trp466Cys)
c.1230G>C (p.Trp410Cys)
c.2286G>C (p.Trp762Cys)
17g.42544235G=CA2260530674NAGLUc.2229G= (p.Trp743=)
c.1398G= (p.Trp466=)
c.1230G= (p.Trp410=)
c.2286G= (p.Trp762=)
17g.42544235G>TCA399606563NAGLUc.2229G>T (p.Trp743Cys)
c.1398G>T (p.Trp466Cys)
c.1230G>T (p.Trp410Cys)
c.2286G>T (p.Trp762Cys)
 gnomAD v4
17g.42544236T>ACA399606566NAGLUc.2230T>A (p.Ter744Arg)
c.1399T>A (p.Ter467Arg)
c.1231T>A (p.Ter411Arg)
c.2287T>A (p.Ter763Arg)
17g.42544236T>CCA399606567NAGLUc.2230T>C (p.Ter744Arg)
c.1399T>C (p.Ter467Arg)
c.1231T>C (p.Ter411Arg)
c.2287T>C (p.Ter763Arg)
 gnomAD v4
17g.42544236T>GCA399606568NAGLUc.2230T>G (p.Ter744Gly)
c.1399T>G (p.Ter467Gly)
c.1231T>G (p.Ter411Gly)
c.2287T>G (p.Ter763Gly)
17g.42544237G>ACA500216973NAGLUc.2231G>A (p.Ter744=)
c.1400G>A (p.Ter467=)
c.1232G>A (p.Ter411=)
c.2288G>A (p.Ter763=)
17g.42544237G>CCA399606569NAGLUc.2231G>C (p.Ter744Ser)
c.1400G>C (p.Ter467Ser)
c.1232G>C (p.Ter411Ser)
c.2288G>C (p.Ter763Ser)
17g.42544237G>TCA399606570NAGLUc.2231G>T (p.Ter744Leu)
c.1400G>T (p.Ter467Leu)
c.1232G>T (p.Ter411Leu)
c.2288G>T (p.Ter763Leu)
 gnomAD v4
17g.42544238A=CA2260530675NAGLUc.2232A= (p.Ter744=)
c.1401A= (p.Ter467=)
c.1233A= (p.Ter411=)
c.2289A= (p.Ter763=)
17g.42544238A>CCA399606573NAGLUc.2232A>C (p.Ter744Cys)
c.1401A>C (p.Ter467Cys)
c.1233A>C (p.Ter411Cys)
c.2289A>C (p.Ter763Cys)
17g.42544238A>GCA399606572NAGLUc.2232A>G (p.Ter744Trp)
c.1401A>G (p.Ter467Trp)
c.1233A>G (p.Ter411Trp)
c.2289A>G (p.Ter763Trp)
 ClinVar dbSNP gnomAD v4
17g.42544238A>TCA399606571NAGLUc.2232A>T (p.Ter744Cys)
c.1401A>T (p.Ter467Cys)
c.1233A>T (p.Ter411Cys)
c.2289A>T (p.Ter763Cys)
17g.42544239T>CCA2260530677NAGLUc.*1T>C (n.*1T>C)
 dbSNP
17g.42544239T=CA2260530676NAGLUc.*1T= (n.*1T=)
17g.42544241_42544242delCA2637976291NAGLUc.*3_*4del (n.*3_*4del)
 gnomAD v4
17g.42544241G>ACA2733668567NAGLUc.*3G>A (n.*3G>A)
 dbSNP
17g.42544241G>CCA626218698NAGLUc.*3G>C (n.*3G>C)
 dbSNP gnomAD v2 gnomAD v4
17g.42544241G=CA2260530678NAGLUc.*3G= (n.*3G=)
17g.42544241G>TCA2637976292NAGLUc.*3G>T (n.*3G>T)
 gnomAD v4
17g.42544244T>CCA2637976293NAGLUc.*6T>C (n.*6T>C)
 gnomAD v4
17g.42544245C>ACA8577167NAGLUc.*7C>A (n.*7C>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.42544245C=CA2260530680NAGLUc.*7C= (n.*7C=)
17g.42544245C>GCA2260530679NAGLUc.*7C>G (n.*7C>G)
 dbSNP gnomAD v4
17g.42544245C>TCA8577166NAGLUc.*7C>T (n.*7C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42544246G>ACA8577168NAGLUc.*8G>A (n.*8G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42544246G>CCA2260530682NAGLUc.*8G>C (n.*8G>C)
 dbSNP
17g.42544246G=CA2260530681NAGLUc.*8G= (n.*8G=)
17g.42544246G>TCA2637976295NAGLUc.*8G>T (n.*8G>T)
 gnomAD v4
17g.42544247C>ACA983831692NAGLUc.*9C>A (n.*9C>A)
 dbSNP gnomAD v3 gnomAD v4
17g.42544247C=CA2260530683NAGLUc.*9C= (n.*9C=)
17g.42544247C>TCA2576276096NAGLUc.*9C>T (n.*9C>T)
17g.42544249A>GCA2637976296NAGLUc.*11A>G (n.*11A>G)
 gnomAD v4
17g.42544250C>ACA2637976297NAGLUc.*12C>A (n.*12C>A)
 gnomAD v4
17g.42544250C=CA2260530684NAGLUc.*12C= (n.*12C=)
17g.42544250C>GCA500216974NAGLUc.*12C>G (n.*12C>G)
 dbSNP gnomAD v2 gnomAD v4
17g.42544250C>TCA8577169NAGLUc.*12C>T (n.*12C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.42544251C=CA2260530685NAGLUc.*13C= (n.*13C=)
17g.42544251C>TCA626218699NAGLUc.*13C>T (n.*13C>T)
 dbSNP gnomAD v2 gnomAD v4
17g.42544252A=CA2260530686NAGLUc.*14A= (n.*14A=)
17g.42544252A>GCA626218700NAGLUc.*14A>G (n.*14A>G)
 dbSNP gnomAD v2 gnomAD v4
17g.42544253C>TCA2637976298NAGLUc.*15C>T (n.*15C>T)
 gnomAD v4
17g.42544254T>CCA8577170NAGLUc.*16T>C (n.*16T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42544254T=CA2260530687NAGLUc.*16T= (n.*16T=)
17g.42544255G>ACA626218701NAGLUc.*17G>A (n.*17G>A)
 dbSNP gnomAD v2 gnomAD v4
17g.42544255G=CA2260530688NAGLUc.*17G= (n.*17G=)
17g.42544255G>TCA2637976300NAGLUc.*17G>T (n.*17G>T)
 gnomAD v4
17g.42544257delCA2637976299NAGLUc.*19del (n.*19del)
 gnomAD v4
17g.42544256G>TCA2637976301NAGLUc.*18G>T (n.*18G>T)
 gnomAD v4
17g.42544257G>TCA2637976302NAGLUc.*19G>T (n.*19G>T)
 gnomAD v4
17g.42544258C>ACA2260530690NAGLUc.*20C>A (n.*20C>A)
 dbSNP
17g.42544258C=CA2260530689NAGLUc.*20C= (n.*20C=)
17g.42544258C>GCA983831694NAGLUc.*20C>G (n.*20C>G)
 dbSNP gnomAD v3 gnomAD v4
17g.42544258C>TCA8577171NAGLUc.*20C>T (n.*20C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.42544260T>CCA2637976303NAGLUc.*22T>C (n.*22T>C)
 gnomAD v4
17g.42544261T>CCA2637976304NAGLUc.*23T>C (n.*23T>C)
 gnomAD v4
17g.42544262G>ACA8577172NAGLUc.*24G>A (n.*24G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42544262G=CA2260530691NAGLUc.*24G= (n.*24G=)
17g.42544262G>TCA2637976305NAGLUc.*24G>T (n.*24G>T)
 gnomAD v4
17g.42544263T>ACA2637976306NAGLUc.*25T>A (n.*25T>A)
 gnomAD v4
17g.42544263T>CCA2733701854NAGLUc.*25T>C (n.*25T>C)
 dbSNP
17g.42544266delCA2533140661NAGLUc.*28del (n.*28del)
17g.42544266T>CCA8577173NAGLUc.*28T>C (n.*28T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42544266T=CA2260530692NAGLUc.*28T= (n.*28T=)
17g.42544267C>TCA2637976307NAGLUc.*29C>T (n.*29C>T)
 gnomAD v4
17g.42544268C>ACA2637976308NAGLUc.*30C>A (n.*30C>A)
 gnomAD v4
17g.42544268C=CA2260530693NAGLUc.*30C= (n.*30C=)
17g.42544268C>TCA8577174NAGLUc.*30C>T (n.*30C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42544269G>ACA290781404NAGLUc.*31G>A (n.*31G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.42544269G>CCA8577175NAGLUc.*31G>C (n.*31G>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42544269G=CA2260530694NAGLUc.*31G= (n.*31G=)
17g.42544269G>TCA626218702NAGLUc.*31G>T (n.*31G>T)
 dbSNP gnomAD v2 gnomAD v4

Number of alleles fetched