Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.42544129_42544211del | CA2582342170 | NAGLU | c.2123_2205del (p.Phe708SerfsTer21) c.1292_1374del (p.Phe431SerfsTer21) c.1124_1206del (p.Phe375SerfsTer21) c.2180_2262del (p.Phe727SerfsTer21) | ClinVar |
17 | g.42544184G>A | CA500217956 | NAGLU | c.2178G>A (p.Leu726=) c.1347G>A (p.Leu449=) c.1179G>A (p.Leu393=) c.2235G>A (p.Leu745=) | |
17 | g.42544184G>C | CA500217959 | NAGLU | c.2178G>C (p.Leu726=) c.1347G>C (p.Leu449=) c.1179G>C (p.Leu393=) c.2235G>C (p.Leu745=) | |
17 | g.42544184G>T | CA500217958 | NAGLU | c.2178G>T (p.Leu726=) c.1347G>T (p.Leu449=) c.1179G>T (p.Leu393=) c.2235G>T (p.Leu745=) | gnomAD v4 |
17 | g.42544185G>A | CA399606329 | NAGLU | c.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 |
17 | g.42544185G>C | CA399606330 | NAGLU | c.2179G>C (p.Ala727Pro) c.1348G>C (p.Ala450Pro) c.1180G>C (p.Ala394Pro) c.2236G>C (p.Ala746Pro) | |
17 | g.42544185G= | CA2260530650 | NAGLU | c.2179G= (p.Ala727=) c.1348G= (p.Ala450=) c.1180G= (p.Ala394=) c.2236G= (p.Ala746=) | |
17 | g.42544185G>T | CA399606331 | NAGLU | c.2179G>T (p.Ala727Ser) c.1348G>T (p.Ala450Ser) c.1180G>T (p.Ala394Ser) c.2236G>T (p.Ala746Ser) | gnomAD v4 |
17 | g.42544186C>A | CA399606335 | NAGLU | c.2180C>A (p.Ala727Asp) c.1349C>A (p.Ala450Asp) c.1181C>A (p.Ala394Asp) c.2237C>A (p.Ala746Asp) | gnomAD v4 |
17 | g.42544186C>G | CA399606333 | NAGLU | c.2180C>G (p.Ala727Gly) c.1349C>G (p.Ala450Gly) c.1181C>G (p.Ala394Gly) c.2237C>G (p.Ala746Gly) | |
17 | g.42544186C>T | CA399606332 | NAGLU | c.2180C>T (p.Ala727Val) c.1349C>T (p.Ala450Val) c.1181C>T (p.Ala394Val) c.2237C>T (p.Ala746Val) | |
17 | g.42544187C>A | CA500218007 | NAGLU | c.2181C>A (p.Ala727=) c.1350C>A (p.Ala450=) c.1182C>A (p.Ala394=) c.2238C>A (p.Ala746=) | |
17 | g.42544187C>G | CA500218011 | NAGLU | c.2181C>G (p.Ala727=) c.1350C>G (p.Ala450=) c.1182C>G (p.Ala394=) c.2238C>G (p.Ala746=) | gnomAD v4 |
17 | g.42544187C>T | CA500218017 | NAGLU | c.2181C>T (p.Ala727=) c.1350C>T (p.Ala450=) c.1182C>T (p.Ala394=) c.2238C>T (p.Ala746=) | gnomAD v2 |
17 | g.42544187_42544190del | CA913012297 | NAGLU | c.2181_2184del (p.Lys728ArgfsTer?) c.1350_1353del (p.Lys451ArgfsTer?) c.1182_1185del (p.Lys395ArgfsTer?) c.2238_2241del (p.Lys747ArgfsTer?) | |
17 | g.42544187_42544190delinsCAAG | CA2260530651 | NAGLU | c.2181_2184delinsCAAG (p.Ala727=) c.1350_1353delinsCAAG (p.Ala450=) c.1182_1185delinsCAAG (p.Ala394=) c.2238_2241delinsCAAG (p.Ala746=) | |
17 | g.42544188A>C | CA399606338 | NAGLU | c.2182A>C (p.Lys728Gln) c.1351A>C (p.Lys451Gln) c.1183A>C (p.Lys395Gln) c.2239A>C (p.Lys747Gln) | gnomAD v4 |
17 | g.42544188A>G | CA399606340 | NAGLU | c.2182A>G (p.Lys728Glu) c.1351A>G (p.Lys451Glu) c.1183A>G (p.Lys395Glu) c.2239A>G (p.Lys747Glu) | |
17 | g.42544188A>T | CA399606342 | NAGLU | c.2182A>T (p.Lys728Ter) c.1351A>T (p.Lys451Ter) c.1183A>T (p.Lys395Ter) c.2239A>T (p.Lys747Ter) | |
17 | g.42544192_42544194del | CA626218627 | NAGLU | c.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 |
17 | g.42544189A>C | CA399606344 | NAGLU | c.2183A>C (p.Lys728Thr) c.1352A>C (p.Lys451Thr) c.1184A>C (p.Lys395Thr) c.2240A>C (p.Lys747Thr) | |
17 | g.42544189A>G | CA399606346 | NAGLU | c.2183A>G (p.Lys728Arg) c.1352A>G (p.Lys451Arg) c.1184A>G (p.Lys395Arg) c.2240A>G (p.Lys747Arg) | |
17 | g.42544189A>T | CA399606347 | NAGLU | c.2183A>T (p.Lys728Met) c.1352A>T (p.Lys451Met) c.1184A>T (p.Lys395Met) c.2240A>T (p.Lys747Met) | |
17 | g.42544190G>A | CA500218061 | NAGLU | c.2184G>A (p.Lys728=) c.1353G>A (p.Lys451=) c.1185G>A (p.Lys395=) c.2241G>A (p.Lys747=) | gnomAD v4 |
17 | g.42544190G>C | CA399606349 | NAGLU | c.2184G>C (p.Lys728Asn) c.1353G>C (p.Lys451Asn) c.1185G>C (p.Lys395Asn) c.2241G>C (p.Lys747Asn) | |
17 | g.42544190G>T | CA399606351 | NAGLU | c.2184G>T (p.Lys728Asn) c.1353G>T (p.Lys451Asn) c.1185G>T (p.Lys395Asn) c.2241G>T (p.Lys747Asn) | |
17 | g.42544191A= | CA2260530652 | NAGLU | c.2185A= (p.Lys729=) c.1354A= (p.Lys452=) c.1186A= (p.Lys396=) c.2242A= (p.Lys748=) | |
17 | g.42544191A>C | CA8577154 | NAGLU | c.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 |
17 | g.42544191A>G | CA399606356 | NAGLU | c.2185A>G (p.Lys729Glu) c.1354A>G (p.Lys452Glu) c.1186A>G (p.Lys396Glu) c.2242A>G (p.Lys748Glu) | |
17 | g.42544191A>T | CA399606354 | NAGLU | c.2185A>T (p.Lys729Ter) c.1354A>T (p.Lys452Ter) c.1186A>T (p.Lys396Ter) c.2242A>T (p.Lys748Ter) | |
17 | g.42544192A= | CA2260530653 | NAGLU | c.2186A= (p.Lys729=) c.1355A= (p.Lys452=) c.1187A= (p.Lys396=) c.2243A= (p.Lys748=) | |
17 | g.42544192A>C | CA399606358 | NAGLU | c.2186A>C (p.Lys729Thr) c.1355A>C (p.Lys452Thr) c.1187A>C (p.Lys396Thr) c.2243A>C (p.Lys748Thr) | |
17 | g.42544192A>G | CA8577155 | NAGLU | c.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 |
17 | g.42544192A>T | CA399606361 | NAGLU | c.2186A>T (p.Lys729Met) c.1355A>T (p.Lys452Met) c.1187A>T (p.Lys396Met) c.2243A>T (p.Lys748Met) | |
17 | g.42544193G>A | CA500218097 | NAGLU | c.2187G>A (p.Lys729=) c.1356G>A (p.Lys452=) c.1188G>A (p.Lys396=) c.2244G>A (p.Lys748=) | gnomAD v4 |
17 | g.42544193G>C | CA399606364 | NAGLU | c.2187G>C (p.Lys729Asn) c.1356G>C (p.Lys452Asn) c.1188G>C (p.Lys396Asn) c.2244G>C (p.Lys748Asn) | |
17 | g.42544193G>T | CA399606365 | NAGLU | c.2187G>T (p.Lys729Asn) c.1356G>T (p.Lys452Asn) c.1188G>T (p.Lys396Asn) c.2244G>T (p.Lys748Asn) | |
17 | g.42544194A>C | CA399606368 | NAGLU | c.2188A>C (p.Ile730Leu) c.1357A>C (p.Ile453Leu) c.1189A>C (p.Ile397Leu) c.2245A>C (p.Ile749Leu) | |
17 | g.42544194A>G | CA399606371 | NAGLU | c.2188A>G (p.Ile730Val) c.1357A>G (p.Ile453Val) c.1189A>G (p.Ile397Val) c.2245A>G (p.Ile749Val) | |
17 | g.42544194A>T | CA399606369 | NAGLU | c.2188A>T (p.Ile730Phe) c.1357A>T (p.Ile453Phe) c.1189A>T (p.Ile397Phe) c.2245A>T (p.Ile749Phe) | |
17 | g.42544195T>A | CA399606374 | NAGLU | c.2189T>A (p.Ile730Asn) c.1358T>A (p.Ile453Asn) c.1190T>A (p.Ile397Asn) c.2246T>A (p.Ile749Asn) | |
17 | g.42544195T>C | CA399606375 | NAGLU | c.2189T>C (p.Ile730Thr) c.1358T>C (p.Ile453Thr) c.1190T>C (p.Ile397Thr) c.2246T>C (p.Ile749Thr) | |
17 | g.42544195T>G | CA399606378 | NAGLU | c.2189T>G (p.Ile730Ser) c.1358T>G (p.Ile453Ser) c.1190T>G (p.Ile397Ser) c.2246T>G (p.Ile749Ser) | |
17 | g.42544196del | CA2695225870 | NAGLU | c.2190del (p.Phe731SerfsTer?) c.1359del (p.Phe454SerfsTer?) c.1191del (p.Phe398SerfsTer?) c.2247del (p.Phe750SerfsTer?) | |
17 | g.42544196C>A | CA500218116 | NAGLU | c.2190C>A (p.Ile730=) c.1359C>A (p.Ile453=) c.1191C>A (p.Ile397=) c.2247C>A (p.Ile749=) | |
17 | g.42544196C>G | CA399606380 | NAGLU | c.2190C>G (p.Ile730Met) c.1359C>G (p.Ile453Met) c.1191C>G (p.Ile397Met) c.2247C>G (p.Ile749Met) | |
17 | g.42544196C>T | CA500218122 | NAGLU | c.2190C>T (p.Ile730=) c.1359C>T (p.Ile453=) c.1191C>T (p.Ile397=) c.2247C>T (p.Ile749=) | |
17 | g.42544197T>A | CA399606382 | NAGLU | c.2191T>A (p.Phe731Ile) c.1360T>A (p.Phe454Ile) c.1192T>A (p.Phe398Ile) c.2248T>A (p.Phe750Ile) | |
17 | g.42544197T>C | CA399606385 | NAGLU | c.2191T>C (p.Phe731Leu) c.1360T>C (p.Phe454Leu) c.1192T>C (p.Phe398Leu) c.2248T>C (p.Phe750Leu) | ClinVar dbSNP |
17 | g.42544197T>G | CA8577156 | NAGLU | c.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 |
17 | g.42544197T= | CA2260530654 | NAGLU | c.2191T= (p.Phe731=) c.1360T= (p.Phe454=) c.1192T= (p.Phe398=) c.2248T= (p.Phe750=) | |
17 | g.42544198T>A | CA399606389 | NAGLU | c.2192T>A (p.Phe731Tyr) c.1361T>A (p.Phe454Tyr) c.1193T>A (p.Phe398Tyr) c.2249T>A (p.Phe750Tyr) | |
17 | g.42544198T>C | CA399606390 | NAGLU | c.2192T>C (p.Phe731Ser) c.1361T>C (p.Phe454Ser) c.1193T>C (p.Phe398Ser) c.2249T>C (p.Phe750Ser) | |
17 | g.42544198T>G | CA399606392 | NAGLU | c.2192T>G (p.Phe731Cys) c.1361T>G (p.Phe454Cys) c.1193T>G (p.Phe398Cys) c.2249T>G (p.Phe750Cys) | |
17 | g.42544199C>A | CA399606395 | NAGLU | c.2193C>A (p.Phe731Leu) c.1362C>A (p.Phe454Leu) c.1194C>A (p.Phe398Leu) c.2250C>A (p.Phe750Leu) | |
17 | g.42544199C= | CA2260530655 | NAGLU | c.2193C= (p.Phe731=) c.1362C= (p.Phe454=) c.1194C= (p.Phe398=) c.2250C= (p.Phe750=) | |
17 | g.42544199C>G | CA399606397 | NAGLU | c.2193C>G (p.Phe731Leu) c.1362C>G (p.Phe454Leu) c.1194C>G (p.Phe398Leu) c.2250C>G (p.Phe750Leu) | |
17 | g.42544199C>T | CA500218143 | NAGLU | c.2193C>T (p.Phe731=) c.1362C>T (p.Phe454=) c.1194C>T (p.Phe398=) c.2250C>T (p.Phe750=) | dbSNP gnomAD v2 |
17 | g.42544200C>A | CA399606400 | NAGLU | c.2194C>A (p.Leu732Ile) c.1363C>A (p.Leu455Ile) c.1195C>A (p.Leu399Ile) c.2251C>A (p.Leu751Ile) | gnomAD v4 |
17 | g.42544200C>G | CA399606404 | NAGLU | c.2194C>G (p.Leu732Val) c.1363C>G (p.Leu455Val) c.1195C>G (p.Leu399Val) c.2251C>G (p.Leu751Val) | |
17 | g.42544200C>T | CA399606401 | NAGLU | c.2194C>T (p.Leu732Phe) c.1363C>T (p.Leu455Phe) c.1195C>T (p.Leu399Phe) c.2251C>T (p.Leu751Phe) | |
17 | g.42544201T>A | CA399606406 | NAGLU | c.2195T>A (p.Leu732His) c.1364T>A (p.Leu455His) c.1196T>A (p.Leu399His) c.2252T>A (p.Leu751His) | |
17 | g.42544201T>C | CA399606408 | NAGLU | c.2195T>C (p.Leu732Pro) c.1364T>C (p.Leu455Pro) c.1196T>C (p.Leu399Pro) c.2252T>C (p.Leu751Pro) | |
17 | g.42544201T>G | CA399606410 | NAGLU | c.2195T>G (p.Leu732Arg) c.1364T>G (p.Leu455Arg) c.1196T>G (p.Leu399Arg) c.2252T>G (p.Leu751Arg) | |
17 | g.42544202C>A | CA500218165 | NAGLU | c.2196C>A (p.Leu732=) c.1365C>A (p.Leu455=) c.1197C>A (p.Leu399=) c.2253C>A (p.Leu751=) | gnomAD v4 |
17 | g.42544202C= | CA2260530656 | NAGLU | c.2196C= (p.Leu732=) c.1365C= (p.Leu455=) c.1197C= (p.Leu399=) c.2253C= (p.Leu751=) | |
17 | g.42544202C>G | CA500218174 | NAGLU | c.2196C>G (p.Leu732=) c.1365C>G (p.Leu455=) c.1197C>G (p.Leu399=) c.2253C>G (p.Leu751=) | |
17 | g.42544202C>T | CA8577157 | NAGLU | c.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 |
17 | g.42544203A>C | CA399606412 | NAGLU | c.2197A>C (p.Lys733Gln) c.1366A>C (p.Lys456Gln) c.1198A>C (p.Lys400Gln) c.2254A>C (p.Lys752Gln) | |
17 | g.42544203A>G | CA399606413 | NAGLU | c.2197A>G (p.Lys733Glu) c.1366A>G (p.Lys456Glu) c.1198A>G (p.Lys400Glu) c.2254A>G (p.Lys752Glu) | |
17 | g.42544203A>T | CA399606414 | NAGLU | c.2197A>T (p.Lys733Ter) c.1366A>T (p.Lys456Ter) c.1198A>T (p.Lys400Ter) c.2254A>T (p.Lys752Ter) | |
17 | g.42544204A>C | CA399606417 | NAGLU | c.2198A>C (p.Lys733Thr) c.1367A>C (p.Lys456Thr) c.1199A>C (p.Lys400Thr) c.2255A>C (p.Lys752Thr) | gnomAD v4 |
17 | g.42544204A>G | CA399606418 | NAGLU | c.2198A>G (p.Lys733Arg) c.1367A>G (p.Lys456Arg) c.1199A>G (p.Lys400Arg) c.2255A>G (p.Lys752Arg) | |
17 | g.42544204A>T | CA399606420 | NAGLU | c.2198A>T (p.Lys733Ile) c.1367A>T (p.Lys456Ile) c.1199A>T (p.Lys400Ile) c.2255A>T (p.Lys752Ile) | |
17 | g.42544205A>C | CA399606423 | NAGLU | c.2199A>C (p.Lys733Asn) c.1368A>C (p.Lys456Asn) c.1200A>C (p.Lys400Asn) c.2256A>C (p.Lys752Asn) | gnomAD v4 |
17 | g.42544205A>G | CA500218188 | NAGLU | c.2199A>G (p.Lys733=) c.1368A>G (p.Lys456=) c.1200A>G (p.Lys400=) c.2256A>G (p.Lys752=) | |
17 | g.42544205A>T | CA399606426 | NAGLU | c.2199A>T (p.Lys733Asn) c.1368A>T (p.Lys456Asn) c.1200A>T (p.Lys400Asn) c.2256A>T (p.Lys752Asn) | |
17 | g.42544206T>A | CA399606431 | NAGLU | c.2200T>A (p.Tyr734Asn) c.1369T>A (p.Tyr457Asn) c.1201T>A (p.Tyr401Asn) c.2257T>A (p.Tyr753Asn) | |
17 | g.42544206T>C | CA399606432 | NAGLU | c.2200T>C (p.Tyr734His) c.1369T>C (p.Tyr457His) c.1201T>C (p.Tyr401His) c.2257T>C (p.Tyr753His) | |
17 | g.42544206T>G | CA399606428 | NAGLU | c.2200T>G (p.Tyr734Asp) c.1369T>G (p.Tyr457Asp) c.1201T>G (p.Tyr401Asp) c.2257T>G (p.Tyr753Asp) | |
17 | g.42544206T= | CA2260530657 | NAGLU | c.2200T= (p.Tyr734=) c.1369T= (p.Tyr457=) c.1201T= (p.Tyr401=) c.2257T= (p.Tyr753=) | |
17 | g.42544208_42544210dup | CA2637976289 | NAGLU | c.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 |
17 | g.42544207A>C | CA399606435 | NAGLU | c.2201A>C (p.Tyr734Ser) c.1370A>C (p.Tyr457Ser) c.1202A>C (p.Tyr401Ser) c.2258A>C (p.Tyr753Ser) | |
17 | g.42544207A>G | CA399606437 | NAGLU | c.2201A>G (p.Tyr734Cys) c.1370A>G (p.Tyr457Cys) c.1202A>G (p.Tyr401Cys) c.2258A>G (p.Tyr753Cys) | ClinVar dbSNP |
17 | g.42544207A>T | CA399606438 | NAGLU | c.2201A>T (p.Tyr734Phe) c.1370A>T (p.Tyr457Phe) c.1202A>T (p.Tyr401Phe) c.2258A>T (p.Tyr753Phe) | |
17 | g.42544207_42544210dup | CA1139665543 | NAGLU | c.2201_2204dup (p.Tyr735Ter) c.1370_1373dup (p.Tyr458Ter) c.1202_1205dup (p.Tyr402Ter) c.2258_2261dup (p.Tyr754Ter) | ClinVar dbSNP |
17 | g.42544208T>A | CA399606440 | NAGLU | c.2202T>A (p.Tyr734Ter) c.1371T>A (p.Tyr457Ter) c.1203T>A (p.Tyr401Ter) c.2259T>A (p.Tyr753Ter) | |
17 | g.42544208T>C | CA500218213 | NAGLU | c.2202T>C (p.Tyr734=) c.1371T>C (p.Tyr457=) c.1203T>C (p.Tyr401=) c.2259T>C (p.Tyr753=) | |
17 | g.42544208T>G | CA399606442 | NAGLU | c.2202T>G (p.Tyr734Ter) c.1371T>G (p.Tyr457Ter) c.1203T>G (p.Tyr401Ter) c.2259T>G (p.Tyr753Ter) | |
17 | g.42544209del | CA2809525074 | NAGLU | c.2203del (p.Tyr735ThrfsTer?) c.1372del (p.Tyr458ThrfsTer?) c.1204del (p.Tyr402ThrfsTer?) c.2260del (p.Tyr754ThrfsTer?) | |
17 | g.42544209T>A | CA399606449 | NAGLU | c.2203T>A (p.Tyr735Asn) c.1372T>A (p.Tyr458Asn) c.1204T>A (p.Tyr402Asn) c.2260T>A (p.Tyr754Asn) | |
17 | g.42544209T>C | CA399606445 | NAGLU | c.2203T>C (p.Tyr735His) c.1372T>C (p.Tyr458His) c.1204T>C (p.Tyr402His) c.2260T>C (p.Tyr754His) | |
17 | g.42544209T>G | CA399606446 | NAGLU | c.2203T>G (p.Tyr735Asp) c.1372T>G (p.Tyr458Asp) c.1204T>G (p.Tyr402Asp) c.2260T>G (p.Tyr754Asp) | |
17 | g.42544210A>C | CA399606453 | NAGLU | c.2204A>C (p.Tyr735Ser) c.1373A>C (p.Tyr458Ser) c.1205A>C (p.Tyr402Ser) c.2261A>C (p.Tyr754Ser) | gnomAD v3 gnomAD v4 |
17 | g.42544210A>G | CA399606455 | NAGLU | c.2204A>G (p.Tyr735Cys) c.1373A>G (p.Tyr458Cys) c.1205A>G (p.Tyr402Cys) c.2261A>G (p.Tyr754Cys) | |
17 | g.42544210A>T | CA399606456 | NAGLU | c.2204A>T (p.Tyr735Phe) c.1373A>T (p.Tyr458Phe) c.1205A>T (p.Tyr402Phe) c.2261A>T (p.Tyr754Phe) | |
17 | g.42544211C>A | CA399606457 | NAGLU | c.2205C>A (p.Tyr735Ter) c.1374C>A (p.Tyr458Ter) c.1206C>A (p.Tyr402Ter) c.2262C>A (p.Tyr754Ter) | ClinVar |
17 | g.42544211C= | CA2260530658 | NAGLU | c.2205C= (p.Tyr735=) c.1374C= (p.Tyr458=) c.1206C= (p.Tyr402=) c.2262C= (p.Tyr754=) | |
17 | g.42544211C>G | CA399606459 | NAGLU | c.2205C>G (p.Tyr735Ter) c.1374C>G (p.Tyr458Ter) c.1206C>G (p.Tyr402Ter) c.2262C>G (p.Tyr754Ter) | |
17 | g.42544211C>T | CA500218234 | NAGLU | c.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 |
17 | g.42544212C>A | CA399606461 | NAGLU | c.2206C>A (p.Pro736Thr) c.1375C>A (p.Pro459Thr) c.1207C>A (p.Pro403Thr) c.2263C>A (p.Pro755Thr) | |
17 | g.42544212C= | CA2260530659 | NAGLU | c.2206C= (p.Pro736=) c.1375C= (p.Pro459=) c.1207C= (p.Pro403=) c.2263C= (p.Pro755=) | |
17 | g.42544212C>G | CA290781273 | NAGLU | c.2206C>G (p.Pro736Ala) c.1375C>G (p.Pro459Ala) c.1207C>G (p.Pro403Ala) c.2263C>G (p.Pro755Ala) | dbSNP |
17 | g.42544212C>T | CA399606463 | NAGLU | c.2206C>T (p.Pro736Ser) c.1375C>T (p.Pro459Ser) c.1207C>T (p.Pro403Ser) c.2263C>T (p.Pro755Ser) | |
17 | g.42544213C>A | CA399606465 | NAGLU | c.2207C>A (p.Pro736His) c.1376C>A (p.Pro459His) c.1208C>A (p.Pro403His) c.2264C>A (p.Pro755His) | |
17 | g.42544213C= | CA2260530660 | NAGLU | c.2207C= (p.Pro736=) c.1376C= (p.Pro459=) c.1208C= (p.Pro403=) c.2264C= (p.Pro755=) | |
17 | g.42544213C>G | CA399606468 | NAGLU | c.2207C>G (p.Pro736Arg) c.1376C>G (p.Pro459Arg) c.1208C>G (p.Pro403Arg) c.2264C>G (p.Pro755Arg) | gnomAD v4 |
17 | g.42544213C>T | CA8577158 | NAGLU | c.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 |
17 | g.42544214C>A | CA500218260 | NAGLU | c.2208C>A (p.Pro736=) c.1377C>A (p.Pro459=) c.1209C>A (p.Pro403=) c.2265C>A (p.Pro755=) | |
17 | g.42544214C= | CA2260530661 | NAGLU | c.2208C= (p.Pro736=) c.1377C= (p.Pro459=) c.1209C= (p.Pro403=) c.2265C= (p.Pro755=) | |
17 | g.42544214C>G | CA500218266 | NAGLU | c.2208C>G (p.Pro736=) c.1377C>G (p.Pro459=) c.1209C>G (p.Pro403=) c.2265C>G (p.Pro755=) | |
17 | g.42544214C>T | CA8577159 | NAGLU | c.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 |
17 | g.42544214_42544215delinsCC | CA2260530662 | NAGLU | c.2208_2209delinsCC (p.Pro736=) c.1377_1378delinsCC (p.Pro459=) c.1209_1210delinsCC (p.Pro403=) c.2265_2266delinsCC (p.Pro755=) | |
17 | g.42544214_42544215delinsTG | CA1139665544 | NAGLU | c.2208_2209delinsTG (p.Arg737Gly) c.1377_1378delinsTG (p.Arg460Gly) c.1209_1210delinsTG (p.Arg404Gly) c.2265_2266delinsTG (p.Arg756Gly) | ClinVar dbSNP |
17 | g.42544215C>A | CA145927 | NAGLU | c.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 |
17 | g.42544215C= | CA2260530663 | NAGLU | c.2209C= (p.Arg737=) c.1378C= (p.Arg460=) c.1210C= (p.Arg404=) c.2266C= (p.Arg756=) | |
17 | g.42544215C>G | CA145929 | NAGLU | c.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 |
17 | g.42544215C>T | CA8577160 | NAGLU | c.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 |
17 | g.42544216G>A | CA8577161 | NAGLU | c.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 |
17 | g.42544216G>C | CA399606475 | NAGLU | c.2210G>C (p.Arg737Pro) c.1379G>C (p.Arg460Pro) c.1211G>C (p.Arg404Pro) c.2267G>C (p.Arg756Pro) | |
17 | g.42544216G= | CA2260530664 | NAGLU | c.2210G= (p.Arg737=) c.1379G= (p.Arg460=) c.1211G= (p.Arg404=) c.2267G= (p.Arg756=) | |
17 | g.42544216G>T | CA399606476 | NAGLU | c.2210G>T (p.Arg737Leu) c.1379G>T (p.Arg460Leu) c.1211G>T (p.Arg404Leu) c.2267G>T (p.Arg756Leu) | |
17 | g.42544217C>A | CA500218286 | NAGLU | c.2211C>A (p.Arg737=) c.1380C>A (p.Arg460=) c.1212C>A (p.Arg404=) c.2268C>A (p.Arg756=) | |
17 | g.42544217C= | CA2260530665 | NAGLU | c.2211C= (p.Arg737=) c.1380C= (p.Arg460=) c.1212C= (p.Arg404=) c.2268C= (p.Arg756=) | |
17 | g.42544217C>G | CA500218288 | NAGLU | c.2211C>G (p.Arg737=) c.1380C>G (p.Arg460=) c.1212C>G (p.Arg404=) c.2268C>G (p.Arg756=) | |
17 | g.42544217C>T | CA500218297 | NAGLU | c.2211C>T (p.Arg737=) c.1380C>T (p.Arg460=) c.1212C>T (p.Arg404=) c.2268C>T (p.Arg756=) | ClinVar dbSNP gnomAD v2 |
17 | g.42544218T>A | CA399606479 | NAGLU | c.2212T>A (p.Trp738Arg) c.1381T>A (p.Trp461Arg) c.1213T>A (p.Trp405Arg) c.2269T>A (p.Trp757Arg) | |
17 | g.42544218T>C | CA399606480 | NAGLU | c.2212T>C (p.Trp738Arg) c.1381T>C (p.Trp461Arg) c.1213T>C (p.Trp405Arg) c.2269T>C (p.Trp757Arg) | gnomAD v4 |
17 | g.42544218T>G | CA399606482 | NAGLU | c.2212T>G (p.Trp738Gly) c.1381T>G (p.Trp461Gly) c.1213T>G (p.Trp405Gly) c.2269T>G (p.Trp757Gly) | |
17 | g.42544219G>A | CA399606484 | NAGLU | c.2213G>A (p.Trp738Ter) c.1382G>A (p.Trp461Ter) c.1214G>A (p.Trp405Ter) c.2270G>A (p.Trp757Ter) | |
17 | g.42544219G>C | CA399606486 | NAGLU | c.2213G>C (p.Trp738Ser) c.1382G>C (p.Trp461Ser) c.1214G>C (p.Trp405Ser) c.2270G>C (p.Trp757Ser) | |
17 | g.42544219G>T | CA399606488 | NAGLU | c.2213G>T (p.Trp738Leu) c.1382G>T (p.Trp461Leu) c.1214G>T (p.Trp405Leu) c.2270G>T (p.Trp757Leu) | |
17 | g.42544220G>A | CA399606490 | NAGLU | c.2214G>A (p.Trp738Ter) c.1383G>A (p.Trp461Ter) c.1215G>A (p.Trp405Ter) c.2271G>A (p.Trp757Ter) | ClinVar gnomAD v4 |
17 | g.42544220G>C | CA399606494 | NAGLU | c.2214G>C (p.Trp738Cys) c.1383G>C (p.Trp461Cys) c.1215G>C (p.Trp405Cys) c.2271G>C (p.Trp757Cys) | |
17 | g.42544220G= | CA2260530666 | NAGLU | c.2214G= (p.Trp738=) c.1383G= (p.Trp461=) c.1215G= (p.Trp405=) c.2271G= (p.Trp757=) | |
17 | g.42544220G>T | CA399606492 | NAGLU | c.2214G>T (p.Trp738Cys) c.1383G>T (p.Trp461Cys) c.1215G>T (p.Trp405Cys) c.2271G>T (p.Trp757Cys) | dbSNP gnomAD v4 |
17 | g.42544221G>A | CA399606497 | NAGLU | c.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 |
17 | g.42544221G>C | CA399606499 | NAGLU | c.2215G>C (p.Val739Leu) c.1384G>C (p.Val462Leu) c.1216G>C (p.Val406Leu) c.2272G>C (p.Val758Leu) | |
17 | g.42544221G= | CA2260530667 | NAGLU | c.2215G= (p.Val739=) c.1384G= (p.Val462=) c.1216G= (p.Val406=) c.2272G= (p.Val758=) | |
17 | g.42544221G>T | CA399606501 | NAGLU | c.2215G>T (p.Val739Leu) c.1384G>T (p.Val462Leu) c.1216G>T (p.Val406Leu) c.2272G>T (p.Val758Leu) | gnomAD v4 |
17 | g.42544222T>A | CA399606503 | NAGLU | c.2216T>A (p.Val739Glu) c.1385T>A (p.Val462Glu) c.1217T>A (p.Val406Glu) c.2273T>A (p.Val758Glu) | |
17 | g.42544222T>C | CA290781288 | NAGLU | c.2216T>C (p.Val739Ala) c.1385T>C (p.Val462Ala) c.1217T>C (p.Val406Ala) c.2273T>C (p.Val758Ala) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.42544222T>G | CA399606506 | NAGLU | c.2216T>G (p.Val739Gly) c.1385T>G (p.Val462Gly) c.1217T>G (p.Val406Gly) c.2273T>G (p.Val758Gly) | gnomAD v4 |
17 | g.42544222T= | CA2260530668 | NAGLU | c.2216T= (p.Val739=) c.1385T= (p.Val462=) c.1217T= (p.Val406=) c.2273T= (p.Val758=) | |
17 | g.42544223G>A | CA500216964 | NAGLU | c.2217G>A (p.Val739=) c.1386G>A (p.Val462=) c.1218G>A (p.Val406=) c.2274G>A (p.Val758=) | dbSNP gnomAD v2 |
17 | g.42544223G>C | CA500216962 | NAGLU | c.2217G>C (p.Val739=) c.1386G>C (p.Val462=) c.1218G>C (p.Val406=) c.2274G>C (p.Val758=) | |
17 | g.42544223G= | CA2260530669 | NAGLU | c.2217G= (p.Val739=) c.1386G= (p.Val462=) c.1218G= (p.Val406=) c.2274G= (p.Val758=) | |
17 | g.42544223G>T | CA500216963 | NAGLU | c.2217G>T (p.Val739=) c.1386G>T (p.Val462=) c.1218G>T (p.Val406=) c.2274G>T (p.Val758=) | gnomAD v4 |
17 | g.42544224G>A | CA399606509 | NAGLU | c.2218G>A (p.Ala740Thr) c.1387G>A (p.Ala463Thr) c.1219G>A (p.Ala407Thr) c.2275G>A (p.Ala759Thr) | ClinVar gnomAD v4 |
17 | g.42544224G>C | CA8577162 | NAGLU | c.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 |
17 | g.42544224G= | CA2260530670 | NAGLU | c.2218G= (p.Ala740=) c.1387G= (p.Ala463=) c.1219G= (p.Ala407=) c.2275G= (p.Ala759=) | |
17 | g.42544224G>T | CA399606512 | NAGLU | c.2218G>T (p.Ala740Ser) c.1387G>T (p.Ala463Ser) c.1219G>T (p.Ala407Ser) c.2275G>T (p.Ala759Ser) | gnomAD v4 |
17 | g.42544225C>A | CA399606519 | NAGLU | c.2219C>A (p.Ala740Asp) c.1388C>A (p.Ala463Asp) c.1220C>A (p.Ala407Asp) c.2276C>A (p.Ala759Asp) | |
17 | g.42544225C>G | CA399606517 | NAGLU | c.2219C>G (p.Ala740Gly) c.1388C>G (p.Ala463Gly) c.1220C>G (p.Ala407Gly) c.2276C>G (p.Ala759Gly) | |
17 | g.42544225C>T | CA399606515 | NAGLU | c.2219C>T (p.Ala740Val) c.1388C>T (p.Ala463Val) c.1220C>T (p.Ala407Val) c.2276C>T (p.Ala759Val) | gnomAD v4 |
17 | g.42544226C>A | CA500216966 | NAGLU | c.2220C>A (p.Ala740=) c.1389C>A (p.Ala463=) c.1221C>A (p.Ala407=) c.2277C>A (p.Ala759=) | gnomAD v4 |
17 | g.42544226C= | CA2260530671 | NAGLU | c.2220C= (p.Ala740=) c.1389C= (p.Ala463=) c.1221C= (p.Ala407=) c.2277C= (p.Ala759=) | |
17 | g.42544226C>G | CA500216965 | NAGLU | c.2220C>G (p.Ala740=) c.1389C>G (p.Ala463=) c.1221C>G (p.Ala407=) c.2277C>G (p.Ala759=) | |
17 | g.42544226C>T | CA8577163 | NAGLU | c.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 |
17 | g.42544227G>A | CA8577164 | NAGLU | c.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 |
17 | g.42544227G>C | CA399606524 | NAGLU | c.2221G>C (p.Gly741Arg) c.1390G>C (p.Gly464Arg) c.1222G>C (p.Gly408Arg) c.2278G>C (p.Gly760Arg) | |
17 | g.42544227G= | CA2260530672 | NAGLU | c.2221G= (p.Gly741=) c.1390G= (p.Gly464=) c.1222G= (p.Gly408=) c.2278G= (p.Gly760=) | |
17 | g.42544227G>T | CA399606526 | NAGLU | c.2221G>T (p.Gly741Cys) c.1390G>T (p.Gly464Cys) c.1222G>T (p.Gly408Cys) c.2278G>T (p.Gly760Cys) | gnomAD v4 |
17 | g.42544228G>A | CA399606528 | NAGLU | c.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 |
17 | g.42544228G>C | CA399606530 | NAGLU | c.2222G>C (p.Gly741Ala) c.1391G>C (p.Gly464Ala) c.1223G>C (p.Gly408Ala) c.2279G>C (p.Gly760Ala) | |
17 | g.42544228G= | CA2260530673 | NAGLU | c.2222G= (p.Gly741=) c.1391G= (p.Gly464=) c.1223G= (p.Gly408=) c.2279G= (p.Gly760=) | |
17 | g.42544228G>T | CA399606532 | NAGLU | c.2222G>T (p.Gly741Val) c.1391G>T (p.Gly464Val) c.1223G>T (p.Gly408Val) c.2279G>T (p.Gly760Val) | gnomAD v4 |
17 | g.42544229C>A | CA500216968 | NAGLU | c.2223C>A (p.Gly741=) c.1392C>A (p.Gly464=) c.1224C>A (p.Gly408=) c.2280C>A (p.Gly760=) | |
17 | g.42544229C>G | CA500216967 | NAGLU | c.2223C>G (p.Gly741=) c.1392C>G (p.Gly464=) c.1224C>G (p.Gly408=) c.2280C>G (p.Gly760=) | |
17 | g.42544229C>T | CA500216969 | NAGLU | c.2223C>T (p.Gly741=) c.1392C>T (p.Gly464=) c.1224C>T (p.Gly408=) c.2280C>T (p.Gly760=) | |
17 | g.42544230T>A | CA399606534 | NAGLU | c.2224T>A (p.Ser742Thr) c.1393T>A (p.Ser465Thr) c.1225T>A (p.Ser409Thr) c.2281T>A (p.Ser761Thr) | |
17 | g.42544230T>C | CA399606536 | NAGLU | c.2224T>C (p.Ser742Pro) c.1393T>C (p.Ser465Pro) c.1225T>C (p.Ser409Pro) c.2281T>C (p.Ser761Pro) | |
17 | g.42544230T>G | CA399606538 | NAGLU | c.2224T>G (p.Ser742Ala) c.1393T>G (p.Ser465Ala) c.1225T>G (p.Ser409Ala) c.2281T>G (p.Ser761Ala) | |
17 | g.42544231C>A | CA399606541 | NAGLU | c.2225C>A (p.Ser742Tyr) c.1394C>A (p.Ser465Tyr) c.1226C>A (p.Ser409Tyr) c.2282C>A (p.Ser761Tyr) | |
17 | g.42544231C>G | CA399606543 | NAGLU | c.2225C>G (p.Ser742Cys) c.1394C>G (p.Ser465Cys) c.1226C>G (p.Ser409Cys) c.2282C>G (p.Ser761Cys) | ClinVar gnomAD v4 |
17 | g.42544231C>T | CA399606545 | NAGLU | c.2225C>T (p.Ser742Phe) c.1394C>T (p.Ser465Phe) c.1226C>T (p.Ser409Phe) c.2282C>T (p.Ser761Phe) | COSMIC |
17 | g.42544232T>A | CA500216970 | NAGLU | c.2226T>A (p.Ser742=) c.1395T>A (p.Ser465=) c.1227T>A (p.Ser409=) c.2283T>A (p.Ser761=) | |
17 | g.42544232T>C | CA500216972 | NAGLU | c.2226T>C (p.Ser742=) c.1395T>C (p.Ser465=) c.1227T>C (p.Ser409=) c.2283T>C (p.Ser761=) | |
17 | g.42544232T>G | CA500216971 | NAGLU | c.2226T>G (p.Ser742=) c.1395T>G (p.Ser465=) c.1227T>G (p.Ser409=) c.2283T>G (p.Ser761=) | |
17 | g.42544233T>A | CA399606551 | NAGLU | c.2227T>A (p.Trp743Arg) c.1396T>A (p.Trp466Arg) c.1228T>A (p.Trp410Arg) c.2284T>A (p.Trp762Arg) | |
17 | g.42544233T>C | CA399606547 | NAGLU | c.2227T>C (p.Trp743Arg) c.1396T>C (p.Trp466Arg) c.1228T>C (p.Trp410Arg) c.2284T>C (p.Trp762Arg) | |
17 | g.42544233T>G | CA399606549 | NAGLU | c.2227T>G (p.Trp743Gly) c.1396T>G (p.Trp466Gly) c.1228T>G (p.Trp410Gly) c.2284T>G (p.Trp762Gly) | |
17 | g.42544234G>A | CA399606553 | NAGLU | c.2228G>A (p.Trp743Ter) c.1397G>A (p.Trp466Ter) c.1229G>A (p.Trp410Ter) c.2285G>A (p.Trp762Ter) | gnomAD v4 |
17 | g.42544234G>C | CA399606556 | NAGLU | c.2228G>C (p.Trp743Ser) c.1397G>C (p.Trp466Ser) c.1229G>C (p.Trp410Ser) c.2285G>C (p.Trp762Ser) | |
17 | g.42544234G>T | CA399606558 | NAGLU | c.2228G>T (p.Trp743Leu) c.1397G>T (p.Trp466Leu) c.1229G>T (p.Trp410Leu) c.2285G>T (p.Trp762Leu) | |
17 | g.42544235G>A | CA8577165 | NAGLU | c.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 |
17 | g.42544235G>C | CA399606561 | NAGLU | c.2229G>C (p.Trp743Cys) c.1398G>C (p.Trp466Cys) c.1230G>C (p.Trp410Cys) c.2286G>C (p.Trp762Cys) | |
17 | g.42544235G= | CA2260530674 | NAGLU | c.2229G= (p.Trp743=) c.1398G= (p.Trp466=) c.1230G= (p.Trp410=) c.2286G= (p.Trp762=) | |
17 | g.42544235G>T | CA399606563 | NAGLU | c.2229G>T (p.Trp743Cys) c.1398G>T (p.Trp466Cys) c.1230G>T (p.Trp410Cys) c.2286G>T (p.Trp762Cys) | gnomAD v4 |
17 | g.42544236T>A | CA399606566 | NAGLU | c.2230T>A (p.Ter744Arg) c.1399T>A (p.Ter467Arg) c.1231T>A (p.Ter411Arg) c.2287T>A (p.Ter763Arg) | |
17 | g.42544236T>C | CA399606567 | NAGLU | c.2230T>C (p.Ter744Arg) c.1399T>C (p.Ter467Arg) c.1231T>C (p.Ter411Arg) c.2287T>C (p.Ter763Arg) | gnomAD v4 |
17 | g.42544236T>G | CA399606568 | NAGLU | c.2230T>G (p.Ter744Gly) c.1399T>G (p.Ter467Gly) c.1231T>G (p.Ter411Gly) c.2287T>G (p.Ter763Gly) | |
17 | g.42544237G>A | CA500216973 | NAGLU | c.2231G>A (p.Ter744=) c.1400G>A (p.Ter467=) c.1232G>A (p.Ter411=) c.2288G>A (p.Ter763=) | |
17 | g.42544237G>C | CA399606569 | NAGLU | c.2231G>C (p.Ter744Ser) c.1400G>C (p.Ter467Ser) c.1232G>C (p.Ter411Ser) c.2288G>C (p.Ter763Ser) | |
17 | g.42544237G>T | CA399606570 | NAGLU | c.2231G>T (p.Ter744Leu) c.1400G>T (p.Ter467Leu) c.1232G>T (p.Ter411Leu) c.2288G>T (p.Ter763Leu) | gnomAD v4 |
17 | g.42544238A= | CA2260530675 | NAGLU | c.2232A= (p.Ter744=) c.1401A= (p.Ter467=) c.1233A= (p.Ter411=) c.2289A= (p.Ter763=) | |
17 | g.42544238A>C | CA399606573 | NAGLU | c.2232A>C (p.Ter744Cys) c.1401A>C (p.Ter467Cys) c.1233A>C (p.Ter411Cys) c.2289A>C (p.Ter763Cys) | |
17 | g.42544238A>G | CA399606572 | NAGLU | c.2232A>G (p.Ter744Trp) c.1401A>G (p.Ter467Trp) c.1233A>G (p.Ter411Trp) c.2289A>G (p.Ter763Trp) | ClinVar dbSNP gnomAD v4 |
17 | g.42544238A>T | CA399606571 | NAGLU | c.2232A>T (p.Ter744Cys) c.1401A>T (p.Ter467Cys) c.1233A>T (p.Ter411Cys) c.2289A>T (p.Ter763Cys) | |
17 | g.42544239T>C | CA2260530677 | NAGLU | c.*1T>C (n.*1T>C) | dbSNP |
17 | g.42544239T= | CA2260530676 | NAGLU | c.*1T= (n.*1T=) | |
17 | g.42544241_42544242del | CA2637976291 | NAGLU | c.*3_*4del (n.*3_*4del) | gnomAD v4 |
17 | g.42544241G>A | CA2733668567 | NAGLU | c.*3G>A (n.*3G>A) | dbSNP |
17 | g.42544241G>C | CA626218698 | NAGLU | c.*3G>C (n.*3G>C) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.42544241G= | CA2260530678 | NAGLU | c.*3G= (n.*3G=) | |
17 | g.42544241G>T | CA2637976292 | NAGLU | c.*3G>T (n.*3G>T) | gnomAD v4 |
17 | g.42544244T>C | CA2637976293 | NAGLU | c.*6T>C (n.*6T>C) | gnomAD v4 |
17 | g.42544245C>A | CA8577167 | NAGLU | c.*7C>A (n.*7C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.42544245C= | CA2260530680 | NAGLU | c.*7C= (n.*7C=) | |
17 | g.42544245C>G | CA2260530679 | NAGLU | c.*7C>G (n.*7C>G) | dbSNP gnomAD v4 |
17 | g.42544245C>T | CA8577166 | NAGLU | c.*7C>T (n.*7C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42544246G>A | CA8577168 | NAGLU | c.*8G>A (n.*8G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42544246G>C | CA2260530682 | NAGLU | c.*8G>C (n.*8G>C) | dbSNP |
17 | g.42544246G= | CA2260530681 | NAGLU | c.*8G= (n.*8G=) | |
17 | g.42544246G>T | CA2637976295 | NAGLU | c.*8G>T (n.*8G>T) | gnomAD v4 |
17 | g.42544247C>A | CA983831692 | NAGLU | c.*9C>A (n.*9C>A) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.42544247C= | CA2260530683 | NAGLU | c.*9C= (n.*9C=) | |
17 | g.42544247C>T | CA2576276096 | NAGLU | c.*9C>T (n.*9C>T) | |
17 | g.42544249A>G | CA2637976296 | NAGLU | c.*11A>G (n.*11A>G) | gnomAD v4 |
17 | g.42544250C>A | CA2637976297 | NAGLU | c.*12C>A (n.*12C>A) | gnomAD v4 |
17 | g.42544250C= | CA2260530684 | NAGLU | c.*12C= (n.*12C=) | |
17 | g.42544250C>G | CA500216974 | NAGLU | c.*12C>G (n.*12C>G) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.42544250C>T | CA8577169 | NAGLU | c.*12C>T (n.*12C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.42544251C= | CA2260530685 | NAGLU | c.*13C= (n.*13C=) | |
17 | g.42544251C>T | CA626218699 | NAGLU | c.*13C>T (n.*13C>T) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.42544252A= | CA2260530686 | NAGLU | c.*14A= (n.*14A=) | |
17 | g.42544252A>G | CA626218700 | NAGLU | c.*14A>G (n.*14A>G) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.42544253C>T | CA2637976298 | NAGLU | c.*15C>T (n.*15C>T) | gnomAD v4 |
17 | g.42544254T>C | CA8577170 | NAGLU | c.*16T>C (n.*16T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42544254T= | CA2260530687 | NAGLU | c.*16T= (n.*16T=) | |
17 | g.42544255G>A | CA626218701 | NAGLU | c.*17G>A (n.*17G>A) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.42544255G= | CA2260530688 | NAGLU | c.*17G= (n.*17G=) | |
17 | g.42544255G>T | CA2637976300 | NAGLU | c.*17G>T (n.*17G>T) | gnomAD v4 |
17 | g.42544257del | CA2637976299 | NAGLU | c.*19del (n.*19del) | gnomAD v4 |
17 | g.42544256G>T | CA2637976301 | NAGLU | c.*18G>T (n.*18G>T) | gnomAD v4 |
17 | g.42544257G>T | CA2637976302 | NAGLU | c.*19G>T (n.*19G>T) | gnomAD v4 |
17 | g.42544258C>A | CA2260530690 | NAGLU | c.*20C>A (n.*20C>A) | dbSNP |
17 | g.42544258C= | CA2260530689 | NAGLU | c.*20C= (n.*20C=) | |
17 | g.42544258C>G | CA983831694 | NAGLU | c.*20C>G (n.*20C>G) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.42544258C>T | CA8577171 | NAGLU | c.*20C>T (n.*20C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.42544260T>C | CA2637976303 | NAGLU | c.*22T>C (n.*22T>C) | gnomAD v4 |
17 | g.42544261T>C | CA2637976304 | NAGLU | c.*23T>C (n.*23T>C) | gnomAD v4 |
17 | g.42544262G>A | CA8577172 | NAGLU | c.*24G>A (n.*24G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42544262G= | CA2260530691 | NAGLU | c.*24G= (n.*24G=) | |
17 | g.42544262G>T | CA2637976305 | NAGLU | c.*24G>T (n.*24G>T) | gnomAD v4 |
17 | g.42544263T>A | CA2637976306 | NAGLU | c.*25T>A (n.*25T>A) | gnomAD v4 |
17 | g.42544263T>C | CA2733701854 | NAGLU | c.*25T>C (n.*25T>C) | dbSNP |
17 | g.42544266del | CA2533140661 | NAGLU | c.*28del (n.*28del) | |
17 | g.42544266T>C | CA8577173 | NAGLU | c.*28T>C (n.*28T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42544266T= | CA2260530692 | NAGLU | c.*28T= (n.*28T=) | |
17 | g.42544267C>T | CA2637976307 | NAGLU | c.*29C>T (n.*29C>T) | gnomAD v4 |
17 | g.42544268C>A | CA2637976308 | NAGLU | c.*30C>A (n.*30C>A) | gnomAD v4 |
17 | g.42544268C= | CA2260530693 | NAGLU | c.*30C= (n.*30C=) | |
17 | g.42544268C>T | CA8577174 | NAGLU | c.*30C>T (n.*30C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42544269G>A | CA290781404 | NAGLU | c.*31G>A (n.*31G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42544269G>C | CA8577175 | NAGLU | c.*31G>C (n.*31G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42544269G= | CA2260530694 | NAGLU | c.*31G= (n.*31G=) | |
17 | g.42544269G>T | CA626218702 | NAGLU | c.*31G>T (n.*31G>T) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.42544271T>C | CA2260530696 | NAGLU | c.*33T>C (n.*33T>C) | dbSNP |
17 | g.42544271T= | CA2260530695 | NAGLU | c.*33T= (n.*33T=) | |
17 | g.42544283_42544294del | CA2637976309 | NAGLU | c.*45_*56del (n.*45_*56del) | gnomAD v4 |
17 | g.42544274T>C | CA626218703 | NAGLU | c.*36T>C (n.*36T>C) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.42544274T>G | CA983831704 | NAGLU | c.*36T>G (n.*36T>G) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.42544274T= | CA2260530697 | NAGLU | c.*36T= (n.*36T=) | |
17 | g.42544275T>A | CA290781412 | NAGLU | c.*37T>A (n.*37T>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42544275T>C | CA2637976310 | NAGLU | c.*37T>C (n.*37T>C) | gnomAD v4 |
17 | g.42544275T= | CA2260530698 | NAGLU | c.*37T= (n.*37T=) | |
17 | g.42544276C>A | CA2637976311 | NAGLU | c.*38C>A (n.*38C>A) | gnomAD v4 |
17 | g.42544276C>G | CA2637976312 | NAGLU | c.*38C>G (n.*38C>G) | gnomAD v4 |
17 | g.42544277C>A | CA2637976313 | NAGLU | c.*39C>A (n.*39C>A) | gnomAD v4 |
17 | g.42544278A= | CA2260530699 | NAGLU | c.*40A= (n.*40A=) | |
17 | g.42544278A>G | CA2637976314 | NAGLU | c.*40A>G (n.*40A>G) | gnomAD v4 |
17 | g.42544278A>T | CA8577176 | NAGLU | c.*40A>T (n.*40A>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.42544279G>A | CA2637976315 | NAGLU | c.*41G>A (n.*41G>A) | gnomAD v4 |
17 | g.42544279G= | CA2260530700 | NAGLU | c.*41G= (n.*41G=) | |
17 | g.42544279G>T | CA8577177 | NAGLU | c.*41G>T (n.*41G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.42544280G>A | CA290781433 | NAGLU | c.*42G>A (n.*42G>A) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.42544280G= | CA2260530701 | NAGLU | c.*42G= (n.*42G=) | |
17 | g.42544280G>T | CA2637976316 | NAGLU | c.*42G>T (n.*42G>T) | gnomAD v4 |
17 | g.42544281G>A | CA772123624 | NAGLU | c.*43G>A (n.*43G>A) | dbSNP gnomAD v4 |
17 | g.42544281G= | CA2260530702 | NAGLU | c.*43G= (n.*43G=) | |
17 | g.42544281G>T | CA2637976317 | NAGLU | c.*43G>T (n.*43G>T) | gnomAD v4 |
17 | g.42544282C>A | CA2637976318 | NAGLU | c.*44C>A (n.*44C>A) | gnomAD v4 |
17 | g.42544282C= | CA2260530703 | NAGLU | c.*44C= (n.*44C=) | |
17 | g.42544282C>T | CA290781439 | NAGLU | c.*44C>T (n.*44C>T) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.42544283A>C | CA2637976320 | NAGLU | c.*45A>C (n.*45A>C) | gnomAD v4 |
17 | g.42544284_42544285del | CA2637976319 | NAGLU | c.*46_*47del (n.*46_*47del) | gnomAD v4 |
17 | g.42544284G>T | CA2637976321 | NAGLU | c.*46G>T (n.*46G>T) | gnomAD v4 |