| 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.42544130C>A | CA399606213 | NAGLU | c.2124C>A (p.Phe708Leu) c.1462C>A (n.1462C>A) c.1293C>A (p.Phe431Leu) c.1125C>A (p.Phe375Leu) c.2181C>A (p.Phe727Leu) | |
| 17 | g.42544130C= | CA2260530623 | NAGLU | c.2124C= (p.Phe708=) c.1462C= (n.1462C=) c.1293C= (p.Phe431=) c.1125C= (p.Phe375=) c.2181C= (p.Phe727=) | |
| 17 | g.42544130C>G | CA399606214 | NAGLU | c.2124C>G (p.Phe708Leu) c.1462C>G (n.1462C>G) c.1293C>G (p.Phe431Leu) c.1125C>G (p.Phe375Leu) c.2181C>G (p.Phe727Leu) | ClinVar dbSNP |
| 17 | g.42544130C>T | CA8577145 | NAGLU | c.2124C>T (p.Phe708=) c.1462C>T (n.1462C>T) c.1293C>T (p.Phe431=) c.1125C>T (p.Phe375=) c.2181C>T (p.Phe727=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42544131G>A | CA8577146 | NAGLU | c.2125G>A (p.Val709Ile) c.1463G>A (n.1463G>A) c.1294G>A (p.Val432Ile) c.1126G>A (p.Val376Ile) c.2182G>A (p.Val728Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.42544131G>C | CA399606216 | NAGLU | c.2125G>C (p.Val709Leu) c.1463G>C (n.1463G>C) c.1294G>C (p.Val432Leu) c.1126G>C (p.Val376Leu) c.2182G>C (p.Val728Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.42544131G= | CA2260530624 | NAGLU | c.2125G= (p.Val709=) c.1463G= (n.1463G=) c.1294G= (p.Val432=) c.1126G= (p.Val376=) c.2182G= (p.Val728=) | |
| 17 | g.42544131G>T | CA399606215 | NAGLU | c.2125G>T (p.Val709Phe) c.1463G>T (n.1463G>T) c.1294G>T (p.Val432Phe) c.1126G>T (p.Val376Phe) c.2182G>T (p.Val728Phe) | |
| 17 | g.42544132T>A | CA399606217 | NAGLU | c.2126T>A (p.Val709Asp) c.1464T>A (n.1464T>A) c.1295T>A (p.Val432Asp) c.1127T>A (p.Val376Asp) c.2183T>A (p.Val728Asp) | |
| 17 | g.42544132T>C | CA399606219 | NAGLU | c.2126T>C (p.Val709Ala) c.1464T>C (n.1464T>C) c.1295T>C (p.Val432Ala) c.1127T>C (p.Val376Ala) c.2183T>C (p.Val728Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.42544132T>G | CA399606218 | NAGLU | c.2126T>G (p.Val709Gly) c.1464T>G (n.1464T>G) c.1295T>G (p.Val432Gly) c.1127T>G (p.Val376Gly) c.2183T>G (p.Val728Gly) | |
| 17 | g.42544132T= | CA2260530625 | NAGLU | c.2126T= (p.Val709=) c.1464T= (n.1464T=) c.1295T= (p.Val432=) c.1127T= (p.Val376=) c.2183T= (p.Val728=) | |
| 17 | g.42544133T>A | CA500217526 | NAGLU | c.2127T>A (p.Val709=) c.1465T>A (n.1465T>A) c.1296T>A (p.Val432=) c.1128T>A (p.Val376=) c.2184T>A (p.Val728=) | |
| 17 | g.42544133T>C | CA500217525 | NAGLU | c.2127T>C (p.Val709=) c.1465T>C (n.1465T>C) c.1296T>C (p.Val432=) c.1128T>C (p.Val376=) c.2184T>C (p.Val728=) | |
| 17 | g.42544133T>G | CA500217529 | NAGLU | c.2127T>G (p.Val709=) c.1465T>G (n.1465T>G) c.1296T>G (p.Val432=) c.1128T>G (p.Val376=) c.2184T>G (p.Val728=) | |
| 17 | g.42544134C>A | CA399606220 | NAGLU | c.2128C>A (p.Leu710Ile) c.1466C>A (n.1466C>A) c.1297C>A (p.Leu433Ile) c.1129C>A (p.Leu377Ile) c.2185C>A (p.Leu729Ile) | |
| 17 | g.42544134C= | CA2260530626 | NAGLU | c.2128C= (p.Leu710=) c.1466C= (n.1466C=) c.1297C= (p.Leu433=) c.1129C= (p.Leu377=) c.2185C= (p.Leu729=) | |
| 17 | g.42544134C>G | CA8577147 | NAGLU | c.2128C>G (p.Leu710Val) c.1466C>G (n.1466C>G) c.1297C>G (p.Leu433Val) c.1129C>G (p.Leu377Val) c.2185C>G (p.Leu729Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42544134C>T | CA399606221 | NAGLU | c.2128C>T (p.Leu710Phe) c.1466C>T (n.1466C>T) c.1297C>T (p.Leu433Phe) c.1129C>T (p.Leu377Phe) c.2185C>T (p.Leu729Phe) | dbSNP gnomAD v2 COSMIC |
| 17 | g.42544135T>A | CA399606222 | NAGLU | c.2129T>A (p.Leu710His) c.1467T>A (n.1467T>A) c.1298T>A (p.Leu433His) c.1130T>A (p.Leu377His) c.2186T>A (p.Leu729His) | |
| 17 | g.42544135T>C | CA399606224 | NAGLU | c.2129T>C (p.Leu710Pro) c.1467T>C (n.1467T>C) c.1298T>C (p.Leu433Pro) c.1130T>C (p.Leu377Pro) c.2186T>C (p.Leu729Pro) | |
| 17 | g.42544135T>G | CA399606223 | NAGLU | c.2129T>G (p.Leu710Arg) c.1467T>G (n.1467T>G) c.1298T>G (p.Leu433Arg) c.1130T>G (p.Leu377Arg) c.2186T>G (p.Leu729Arg) | |
| 17 | g.42544136C>A | CA500217547 | NAGLU | c.2130C>A (p.Leu710=) c.1468C>A (n.1468C>A) c.1299C>A (p.Leu433=) c.1131C>A (p.Leu377=) c.2187C>A (p.Leu729=) | |
| 17 | g.42544136C>G | CA500217554 | NAGLU | c.2130C>G (p.Leu710=) c.1468C>G (n.1468C>G) c.1299C>G (p.Leu433=) c.1131C>G (p.Leu377=) c.2187C>G (p.Leu729=) | |
| 17 | g.42544136C>T | CA500217550 | NAGLU | c.2130C>T (p.Leu710=) c.1468C>T (n.1468C>T) c.1299C>T (p.Leu433=) c.1131C>T (p.Leu377=) c.2187C>T (p.Leu729=) | gnomAD v3 gnomAD v4 |
| 17 | g.42544137A= | CA2260530627 | NAGLU | c.2131A= (p.Ser711=) c.1469A= (n.1469A=) c.1300A= (p.Ser434=) c.1132A= (p.Ser378=) c.2188A= (p.Ser730=) | |
| 17 | g.42544137A>C | CA399606225 | NAGLU | c.2131A>C (p.Ser711Arg) c.1469A>C (n.1469A>C) c.1300A>C (p.Ser434Arg) c.1132A>C (p.Ser378Arg) c.2188A>C (p.Ser730Arg) | |
| 17 | g.42544137A>G | CA399606226 | NAGLU | c.2131A>G (p.Ser711Gly) c.1469A>G (n.1469A>G) c.1300A>G (p.Ser434Gly) c.1132A>G (p.Ser378Gly) c.2188A>G (p.Ser730Gly) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.42544137A>T | CA399606227 | NAGLU | c.2131A>T (p.Ser711Cys) c.1469A>T (n.1469A>T) c.1300A>T (p.Ser434Cys) c.1132A>T (p.Ser378Cys) c.2188A>T (p.Ser730Cys) | dbSNP |
| 17 | g.42544138G>A | CA399606228 | NAGLU | c.2132G>A (p.Ser711Asn) c.1470G>A (n.1470G>A) c.1301G>A (p.Ser434Asn) c.1133G>A (p.Ser378Asn) c.2189G>A (p.Ser730Asn) | ClinVar dbSNP gnomAD v4 |
| 17 | g.42544138G>C | CA399606229 | NAGLU | c.2132G>C (p.Ser711Thr) c.1470G>C (n.1470G>C) c.1301G>C (p.Ser434Thr) c.1133G>C (p.Ser378Thr) c.2189G>C (p.Ser730Thr) | |
| 17 | g.42544138G= | CA2260530628 | NAGLU | c.2132G= (p.Ser711=) c.1470G= (n.1470G=) c.1301G= (p.Ser434=) c.1133G= (p.Ser378=) c.2189G= (p.Ser730=) | |
| 17 | g.42544138G>T | CA399606230 | NAGLU | c.2132G>T (p.Ser711Ile) c.1470G>T (n.1470G>T) c.1301G>T (p.Ser434Ile) c.1133G>T (p.Ser378Ile) c.2189G>T (p.Ser730Ile) | |
| 17 | g.42544139C>A | CA399606231 | NAGLU | c.2133C>A (p.Ser711Arg) c.1471C>A (n.1471C>A) c.1302C>A (p.Ser434Arg) c.1134C>A (p.Ser378Arg) c.2190C>A (p.Ser730Arg) | |
| 17 | g.42544139C>G | CA399606232 | NAGLU | c.2133C>G (p.Ser711Arg) c.1471C>G (n.1471C>G) c.1302C>G (p.Ser434Arg) c.1134C>G (p.Ser378Arg) c.2190C>G (p.Ser730Arg) | |
| 17 | g.42544139C>T | CA500217579 | NAGLU | c.2133C>T (p.Ser711=) c.1471C>T (n.1471C>T) c.1302C>T (p.Ser434=) c.1134C>T (p.Ser378=) c.2190C>T (p.Ser730=) | |
| 17 | g.42544140A>C | CA399606233 | NAGLU | c.2134A>C (p.Lys712Gln) c.1472A>C (n.1472A>C) c.1303A>C (p.Lys435Gln) c.1135A>C (p.Lys379Gln) c.2191A>C (p.Lys731Gln) | |
| 17 | g.42544140A>G | CA399606234 | NAGLU | c.2134A>G (p.Lys712Glu) c.1472A>G (n.1472A>G) c.1303A>G (p.Lys435Glu) c.1135A>G (p.Lys379Glu) c.2191A>G (p.Lys731Glu) | |
| 17 | g.42544140A>T | CA399606235 | NAGLU | c.2134A>T (p.Lys712Ter) c.1472A>T (n.1472A>T) c.1303A>T (p.Lys435Ter) c.1135A>T (p.Lys379Ter) c.2191A>T (p.Lys731Ter) | |
| 17 | g.42544141A= | CA2260530629 | NAGLU | c.2135A= (p.Lys712=) c.1473A= (n.1473A=) c.1304A= (p.Lys435=) c.1136A= (p.Lys379=) c.2192A= (p.Lys731=) | |
| 17 | g.42544141A>C | CA399606238 | NAGLU | c.2135A>C (p.Lys712Thr) c.1473A>C (n.1473A>C) c.1304A>C (p.Lys435Thr) c.1136A>C (p.Lys379Thr) c.2192A>C (p.Lys731Thr) | |
| 17 | g.42544141A>G | CA399606236 | NAGLU | c.2135A>G (p.Lys712Arg) c.1473A>G (n.1473A>G) c.1304A>G (p.Lys435Arg) c.1136A>G (p.Lys379Arg) c.2192A>G (p.Lys731Arg) | dbSNP |
| 17 | g.42544141A>T | CA399606237 | NAGLU | c.2135A>T (p.Lys712Met) c.1473A>T (n.1473A>T) c.1304A>T (p.Lys435Met) c.1136A>T (p.Lys379Met) c.2192A>T (p.Lys731Met) | |
| 17 | g.42544144_42544161dup | CA2637976287 | NAGLU | c.2138_2155dup (p.Gln718_Pro719insGlnArgTyrProSerGln) c.1307_1324dup (p.Gln441_Pro442insGlnArgTyrProSerGln) c.1139_1156dup (p.Gln385_Pro386insGlnArgTyrProSerGln) c.2195_2212dup (p.Gln737_Pro738insGlnArgTyrProSerGln) | gnomAD v4 |
| 17 | g.42544142G>A | CA500217600 | NAGLU | c.2136G>A (p.Lys712=) c.1474G>A (n.1474G>A) c.1305G>A (p.Lys435=) c.1137G>A (p.Lys379=) c.2193G>A (p.Lys731=) | |
| 17 | g.42544142G>C | CA399606239 | NAGLU | c.2136G>C (p.Lys712Asn) c.1474G>C (n.1474G>C) c.1305G>C (p.Lys435Asn) c.1137G>C (p.Lys379Asn) c.2193G>C (p.Lys731Asn) | gnomAD v4 |
| 17 | g.42544142G>T | CA399606240 | NAGLU | c.2136G>T (p.Lys712Asn) c.1474G>T (n.1474G>T) c.1305G>T (p.Lys435Asn) c.1137G>T (p.Lys379Asn) c.2193G>T (p.Lys731Asn) | |
| 17 | g.42544143C>A | CA399606241 | NAGLU | c.2137C>A (p.Gln713Lys) c.1475C>A (n.1475C>A) c.1306C>A (p.Gln436Lys) c.1138C>A (p.Gln380Lys) c.2194C>A (p.Gln732Lys) | |
| 17 | g.42544143C>G | CA399606242 | NAGLU | c.2137C>G (p.Gln713Glu) c.1475C>G (n.1475C>G) c.1306C>G (p.Gln436Glu) c.1138C>G (p.Gln380Glu) c.2194C>G (p.Gln732Glu) | |
| 17 | g.42544143C>T | CA399606243 | NAGLU | c.2137C>T (p.Gln713Ter) c.1475C>T (n.1475C>T) c.1306C>T (p.Gln436Ter) c.1138C>T (p.Gln380Ter) c.2194C>T (p.Gln732Ter) | COSMIC |
| 17 | g.42544143dup | CA2576276095 | NAGLU | c.2137dup (p.Gln713ProfsTer?) c.1475dup (n.1475dup) c.1306dup (p.Gln436ProfsTer?) c.1138dup (p.Gln380ProfsTer?) c.2194dup (p.Gln732ProfsTer?) | ClinVar |
| 17 | g.42544144A>C | CA399606244 | NAGLU | c.2138A>C (p.Gln713Pro) c.1476A>C (n.1476A>C) c.1307A>C (p.Gln436Pro) c.1139A>C (p.Gln380Pro) c.2195A>C (p.Gln732Pro) | |
| 17 | g.42544144A>G | CA399606245 | NAGLU | c.2138A>G (p.Gln713Arg) c.1476A>G (n.1476A>G) c.1307A>G (p.Gln436Arg) c.1139A>G (p.Gln380Arg) c.2195A>G (p.Gln732Arg) | gnomAD v4 |
| 17 | g.42544144A>T | CA399606246 | NAGLU | c.2138A>T (p.Gln713Leu) c.1476A>T (n.1476A>T) c.1307A>T (p.Gln436Leu) c.1139A>T (p.Gln380Leu) c.2195A>T (p.Gln732Leu) | |
| 17 | g.42544145G>A | CA500217626 | NAGLU | c.2139G>A (p.Gln713=) c.1477G>A (n.1477G>A) c.1308G>A (p.Gln436=) c.1140G>A (p.Gln380=) c.2196G>A (p.Gln732=) | |
| 17 | g.42544145G>C | CA399606247 | NAGLU | c.2139G>C (p.Gln713His) c.1477G>C (n.1477G>C) c.1308G>C (p.Gln436His) c.1140G>C (p.Gln380His) c.2196G>C (p.Gln732His) | ClinVar |
| 17 | g.42544145G>T | CA399606248 | NAGLU | c.2139G>T (p.Gln713His) c.1477G>T (n.1477G>T) c.1308G>T (p.Gln436His) c.1140G>T (p.Gln380His) c.2196G>T (p.Gln732His) | |
| 17 | g.42544146A= | CA2260530630 | NAGLU | c.2140A= (p.Arg714=) c.1478A= (n.1478A=) c.1309A= (p.Arg437=) c.1141A= (p.Arg381=) c.2197A= (p.Arg733=) | |
| 17 | g.42544146A>C | CA500217632 | NAGLU | c.2140A>C (p.Arg714=) c.1478A>C (n.1478A>C) c.1309A>C (p.Arg437=) c.1141A>C (p.Arg381=) c.2197A>C (p.Arg733=) | |
| 17 | g.42544146A>G | CA399606250 | NAGLU | c.2140A>G (p.Arg714Gly) c.1478A>G (n.1478A>G) c.1309A>G (p.Arg437Gly) c.1141A>G (p.Arg381Gly) c.2197A>G (p.Arg733Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.42544146A>T | CA399606249 | NAGLU | c.2140A>T (p.Arg714Trp) c.1478A>T (n.1478A>T) c.1309A>T (p.Arg437Trp) c.1141A>T (p.Arg381Trp) c.2197A>T (p.Arg733Trp) | |
| 17 | g.42544147G>A | CA399606251 | NAGLU | c.2141G>A (p.Arg714Lys) c.1479G>A (n.1479G>A) c.1310G>A (p.Arg437Lys) c.1142G>A (p.Arg381Lys) c.2198G>A (p.Arg733Lys) | dbSNP |
| 17 | g.42544147G>C | CA399606252 | NAGLU | c.2141G>C (p.Arg714Thr) c.1479G>C (n.1479G>C) c.1310G>C (p.Arg437Thr) c.1142G>C (p.Arg381Thr) c.2198G>C (p.Arg733Thr) | |
| 17 | g.42544147G= | CA2260530631 | NAGLU | c.2141G= (p.Arg714=) c.1479G= (n.1479G=) c.1310G= (p.Arg437=) c.1142G= (p.Arg381=) c.2198G= (p.Arg733=) | |
| 17 | g.42544147G>T | CA8577148 | NAGLU | c.2141G>T (p.Arg714Met) c.1479G>T (n.1479G>T) c.1310G>T (p.Arg437Met) c.1142G>T (p.Arg381Met) c.2198G>T (p.Arg733Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.42544148G>A | CA500217651 | NAGLU | c.2142G>A (p.Arg714=) c.1480G>A (n.1480G>A) c.1311G>A (p.Arg437=) c.1143G>A (p.Arg381=) c.2199G>A (p.Arg733=) | |
| 17 | g.42544148G>C | CA399606253 | NAGLU | c.2142G>C (p.Arg714Ser) c.1480G>C (n.1480G>C) c.1311G>C (p.Arg437Ser) c.1143G>C (p.Arg381Ser) c.2199G>C (p.Arg733Ser) | |
| 17 | g.42544148G>T | CA399606254 | NAGLU | c.2142G>T (p.Arg714Ser) c.1480G>T (n.1480G>T) c.1311G>T (p.Arg437Ser) c.1143G>T (p.Arg381Ser) c.2199G>T (p.Arg733Ser) | gnomAD v4 |
| 17 | g.42544149T>A | CA399606255 | NAGLU | c.2143T>A (p.Tyr715Asn) c.1481T>A (n.1481T>A) c.1312T>A (p.Tyr438Asn) c.1144T>A (p.Tyr382Asn) c.2200T>A (p.Tyr734Asn) | |
| 17 | g.42544149T>C | CA399606256 | NAGLU | c.2143T>C (p.Tyr715His) c.1481T>C (n.1481T>C) c.1312T>C (p.Tyr438His) c.1144T>C (p.Tyr382His) c.2200T>C (p.Tyr734His) | gnomAD v4 |
| 17 | g.42544149T>G | CA399606257 | NAGLU | c.2143T>G (p.Tyr715Asp) c.1481T>G (n.1481T>G) c.1312T>G (p.Tyr438Asp) c.1144T>G (p.Tyr382Asp) c.2200T>G (p.Tyr734Asp) | |
| 17 | g.42544150A= | CA2260530632 | NAGLU | c.2144A= (p.Tyr715=) c.1482A= (n.1482A=) c.1313A= (p.Tyr438=) c.1145A= (p.Tyr382=) c.2201A= (p.Tyr734=) | |
| 17 | g.42544150A>C | CA8577149 | NAGLU | c.2144A>C (p.Tyr715Ser) c.1482A>C (n.1482A>C) c.1313A>C (p.Tyr438Ser) c.1145A>C (p.Tyr382Ser) c.2201A>C (p.Tyr734Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.42544150A>G | CA399606258 | NAGLU | c.2144A>G (p.Tyr715Cys) c.1482A>G (n.1482A>G) c.1313A>G (p.Tyr438Cys) c.1145A>G (p.Tyr382Cys) c.2201A>G (p.Tyr734Cys) | gnomAD v4 |
| 17 | g.42544150A>T | CA399606259 | NAGLU | c.2144A>T (p.Tyr715Phe) c.1482A>T (n.1482A>T) c.1313A>T (p.Tyr438Phe) c.1145A>T (p.Tyr382Phe) c.2201A>T (p.Tyr734Phe) | dbSNP |
| 17 | g.42544151C>A | CA399606260 | NAGLU | c.2145C>A (p.Tyr715Ter) c.1483C>A (n.1483C>A) c.1314C>A (p.Tyr438Ter) c.1146C>A (p.Tyr382Ter) c.2202C>A (p.Tyr734Ter) | |
| 17 | g.42544151C= | CA2260530633 | NAGLU | c.2145C= (p.Tyr715=) c.1483C= (n.1483C=) c.1314C= (p.Tyr438=) c.1146C= (p.Tyr382=) c.2202C= (p.Tyr734=) | |
| 17 | g.42544151C>G | CA399606261 | NAGLU | c.2145C>G (p.Tyr715Ter) c.1483C>G (n.1483C>G) c.1314C>G (p.Tyr438Ter) c.1146C>G (p.Tyr382Ter) c.2202C>G (p.Tyr734Ter) | |
| 17 | g.42544151C>T | CA500217672 | NAGLU | c.2145C>T (p.Tyr715=) c.1483C>T (n.1483C>T) c.1314C>T (p.Tyr438=) c.1146C>T (p.Tyr382=) c.2202C>T (p.Tyr734=) | ClinVar dbSNP gnomAD v2 |
| 17 | g.42544152C>A | CA399606262 | NAGLU | c.2146C>A (p.Pro716Thr) c.1484C>A (n.1484C>A) c.1315C>A (p.Pro439Thr) c.1147C>A (p.Pro383Thr) c.2203C>A (p.Pro735Thr) | |
| 17 | g.42544152C= | CA2260530634 | NAGLU | c.2146C= (p.Pro716=) c.1484C= (n.1484C=) c.1315C= (p.Pro439=) c.1147C= (p.Pro383=) c.2203C= (p.Pro735=) | |
| 17 | g.42544152C>G | CA399606264 | NAGLU | c.2146C>G (p.Pro716Ala) c.1484C>G (n.1484C>G) c.1315C>G (p.Pro439Ala) c.1147C>G (p.Pro383Ala) c.2203C>G (p.Pro735Ala) | gnomAD v4 |
| 17 | g.42544152C>T | CA399606263 | NAGLU | c.2146C>T (p.Pro716Ser) c.1484C>T (n.1484C>T) c.1315C>T (p.Pro439Ser) c.1147C>T (p.Pro383Ser) c.2203C>T (p.Pro735Ser) | ClinVar dbSNP gnomAD v4 |
| 17 | g.42544153C>A | CA399606265 | NAGLU | c.2147C>A (p.Pro716His) c.1485C>A (n.1485C>A) c.1316C>A (p.Pro439His) c.1148C>A (p.Pro383His) c.2204C>A (p.Pro735His) | |
| 17 | g.42544153C= | CA2260530635 | NAGLU | c.2147C= (p.Pro716=) c.1485C= (n.1485C=) c.1316C= (p.Pro439=) c.1148C= (p.Pro383=) c.2204C= (p.Pro735=) | |
| 17 | g.42544153C>G | CA399606266 | NAGLU | c.2147C>G (p.Pro716Arg) c.1485C>G (n.1485C>G) c.1316C>G (p.Pro439Arg) c.1148C>G (p.Pro383Arg) c.2204C>G (p.Pro735Arg) | |
| 17 | g.42544153C>T | CA399606267 | NAGLU | c.2147C>T (p.Pro716Leu) c.1485C>T (n.1485C>T) c.1316C>T (p.Pro439Leu) c.1148C>T (p.Pro383Leu) c.2204C>T (p.Pro735Leu) | dbSNP |
| 17 | g.42544154C>A | CA500217692 | NAGLU | c.2148C>A (p.Pro716=) c.1486C>A (n.1486C>A) c.1317C>A (p.Pro439=) c.1149C>A (p.Pro383=) c.2205C>A (p.Pro735=) | |
| 17 | g.42544154C= | CA2260530636 | NAGLU | c.2148C= (p.Pro716=) c.1486C= (n.1486C=) c.1317C= (p.Pro439=) c.1149C= (p.Pro383=) c.2205C= (p.Pro735=) | |
| 17 | g.42544154C>G | CA500217699 | NAGLU | c.2148C>G (p.Pro716=) c.1486C>G (n.1486C>G) c.1317C>G (p.Pro439=) c.1149C>G (p.Pro383=) c.2205C>G (p.Pro735=) | dbSNP gnomAD v2 |
| 17 | g.42544154C>T | CA500217689 | NAGLU | c.2148C>T (p.Pro716=) c.1486C>T (n.1486C>T) c.1317C>T (p.Pro439=) c.1149C>T (p.Pro383=) c.2205C>T (p.Pro735=) | gnomAD v4 |
| 17 | g.42544155A>C | CA399606268 | NAGLU | c.2149A>C (p.Ser717Arg) c.1487A>C (n.1487A>C) c.1318A>C (p.Ser440Arg) c.1150A>C (p.Ser384Arg) c.2206A>C (p.Ser736Arg) | |
| 17 | g.42544155A>G | CA399606269 | NAGLU | c.2149A>G (p.Ser717Gly) c.1487A>G (n.1487A>G) c.1318A>G (p.Ser440Gly) c.1150A>G (p.Ser384Gly) c.2206A>G (p.Ser736Gly) | |
| 17 | g.42544155A>T | CA399606270 | NAGLU | c.2149A>T (p.Ser717Cys) c.1487A>T (n.1487A>T) c.1318A>T (p.Ser440Cys) c.1150A>T (p.Ser384Cys) c.2206A>T (p.Ser736Cys) | |
| 17 | g.42544156G>A | CA399606271 | NAGLU | c.2150G>A (p.Ser717Asn) c.1488G>A (n.1488G>A) c.1319G>A (p.Ser440Asn) c.1151G>A (p.Ser384Asn) c.2207G>A (p.Ser736Asn) | |
| 17 | g.42544156G>C | CA290781246 | NAGLU | c.2150G>C (p.Ser717Thr) c.1488G>C (n.1488G>C) c.1319G>C (p.Ser440Thr) c.1151G>C (p.Ser384Thr) c.2207G>C (p.Ser736Thr) | ClinVar dbSNP gnomAD v4 |
| 17 | g.42544156G= | CA2260530637 | NAGLU | c.2150G= (p.Ser717=) c.1488G= (n.1488G=) c.1319G= (p.Ser440=) c.1151G= (p.Ser384=) c.2207G= (p.Ser736=) | |
| 17 | g.42544156G>T | CA399606272 | NAGLU | c.2150G>T (p.Ser717Ile) c.1488G>T (n.1488G>T) c.1319G>T (p.Ser440Ile) c.1151G>T (p.Ser384Ile) c.2207G>T (p.Ser736Ile) | |
| 17 | g.42544157C>A | CA399606273 | NAGLU | c.2151C>A (p.Ser717Arg) c.1489C>A (n.1489C>A) c.1320C>A (p.Ser440Arg) c.1152C>A (p.Ser384Arg) c.2208C>A (p.Ser736Arg) | |
| 17 | g.42544157C>G | CA399606274 | NAGLU | c.2151C>G (p.Ser717Arg) c.1489C>G (n.1489C>G) c.1320C>G (p.Ser440Arg) c.1152C>G (p.Ser384Arg) c.2208C>G (p.Ser736Arg) | |
| 17 | g.42544157C>T | CA500217725 | NAGLU | c.2151C>T (p.Ser717=) c.1489C>T (n.1489C>T) c.1320C>T (p.Ser440=) c.1152C>T (p.Ser384=) c.2208C>T (p.Ser736=) | |
| 17 | g.42544158C>A | CA399606276 | NAGLU | c.2152C>A (p.Gln718Lys) c.1490C>A (n.1490C>A) c.1321C>A (p.Gln441Lys) c.1153C>A (p.Gln385Lys) c.2209C>A (p.Gln737Lys) | |
| 17 | g.42544158C>G | CA399606277 | NAGLU | c.2152C>G (p.Gln718Glu) c.1490C>G (n.1490C>G) c.1321C>G (p.Gln441Glu) c.1153C>G (p.Gln385Glu) c.2209C>G (p.Gln737Glu) | |
| 17 | g.42544158C>T | CA399606275 | NAGLU | c.2152C>T (p.Gln718Ter) c.1490C>T (n.1490C>T) c.1321C>T (p.Gln441Ter) c.1153C>T (p.Gln385Ter) c.2209C>T (p.Gln737Ter) | |
| 17 | g.42544159A>C | CA399606280 | NAGLU | c.2153A>C (p.Gln718Pro) c.1491A>C (n.1491A>C) c.1322A>C (p.Gln441Pro) c.1154A>C (p.Gln385Pro) c.2210A>C (p.Gln737Pro) | |
| 17 | g.42544159A>G | CA399606278 | NAGLU | c.2153A>G (p.Gln718Arg) c.1491A>G (n.1491A>G) c.1322A>G (p.Gln441Arg) c.1154A>G (p.Gln385Arg) c.2210A>G (p.Gln737Arg) | |
| 17 | g.42544159A>T | CA399606279 | NAGLU | c.2153A>T (p.Gln718Leu) c.1491A>T (n.1491A>T) c.1322A>T (p.Gln441Leu) c.1154A>T (p.Gln385Leu) c.2210A>T (p.Gln737Leu) | |
| 17 | g.42544160G>A | CA500217744 | NAGLU | c.2154G>A (p.Gln718=) c.1492G>A (n.1492G>A) c.1323G>A (p.Gln441=) c.1155G>A (p.Gln385=) c.2211G>A (p.Gln737=) | ClinVar |
| 17 | g.42544160G>C | CA8577150 | NAGLU | c.2154G>C (p.Gln718His) c.1492G>C (n.1492G>C) c.1323G>C (p.Gln441His) c.1155G>C (p.Gln385His) c.2211G>C (p.Gln737His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.42544160G= | CA2260530638 | NAGLU | c.2154G= (p.Gln718=) c.1492G= (n.1492G=) c.1323G= (p.Gln441=) c.1155G= (p.Gln385=) c.2211G= (p.Gln737=) | |
| 17 | g.42544160G>T | CA399606281 | NAGLU | c.2154G>T (p.Gln718His) c.1492G>T (n.1492G>T) c.1323G>T (p.Gln441His) c.1155G>T (p.Gln385His) c.2211G>T (p.Gln737His) | |
| 17 | g.42544161C>A | CA399606282 | NAGLU | c.2155C>A (p.Pro719Thr) c.1493C>A (n.1493C>A) c.1324C>A (p.Pro442Thr) c.1156C>A (p.Pro386Thr) c.2212C>A (p.Pro738Thr) | |
| 17 | g.42544161C>G | CA399606283 | NAGLU | c.2155C>G (p.Pro719Ala) c.1493C>G (n.1493C>G) c.1324C>G (p.Pro442Ala) c.1156C>G (p.Pro386Ala) c.2212C>G (p.Pro738Ala) | |
| 17 | g.42544161C>T | CA399606284 | NAGLU | c.2155C>T (p.Pro719Ser) c.1493C>T (n.1493C>T) c.1324C>T (p.Pro442Ser) c.1156C>T (p.Pro386Ser) c.2212C>T (p.Pro738Ser) | |
| 17 | g.42544162C>A | CA399606285 | NAGLU | c.2156C>A (p.Pro719Gln) c.1325C>A (p.Pro442Gln) c.1157C>A (p.Pro386Gln) c.2213C>A (p.Pro738Gln) | |
| 17 | g.42544162C= | CA2260530639 | NAGLU | c.2156C= (p.Pro719=) c.1325C= (p.Pro442=) c.1157C= (p.Pro386=) c.2213C= (p.Pro738=) | |
| 17 | g.42544162C>G | CA399606286 | NAGLU | c.2156C>G (p.Pro719Arg) c.1325C>G (p.Pro442Arg) c.1157C>G (p.Pro386Arg) c.2213C>G (p.Pro738Arg) | |
| 17 | g.42544162C>T | CA290781251 | NAGLU | c.2156C>T (p.Pro719Leu) c.1325C>T (p.Pro442Leu) c.1157C>T (p.Pro386Leu) c.2213C>T (p.Pro738Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42544163G>A | CA8577151 | NAGLU | c.2157G>A (p.Pro719=) c.1326G>A (p.Pro442=) c.1158G>A (p.Pro386=) c.2214G>A (p.Pro738=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42544163G>C | CA500217765 | NAGLU | c.2157G>C (p.Pro719=) c.1326G>C (p.Pro442=) c.1158G>C (p.Pro386=) c.2214G>C (p.Pro738=) | |
| 17 | g.42544163G= | CA2260530640 | NAGLU | c.2157G= (p.Pro719=) c.1326G= (p.Pro442=) c.1158G= (p.Pro386=) c.2214G= (p.Pro738=) | |
| 17 | g.42544163G>T | CA290781252 | NAGLU | c.2157G>T (p.Pro719=) c.1326G>T (p.Pro442=) c.1158G>T (p.Pro386=) c.2214G>T (p.Pro738=) | ClinVar dbSNP gnomAD v4 |
| 17 | g.42544164C>A | CA500217777 | NAGLU | c.2158C>A (p.Arg720=) c.1327C>A (p.Arg443=) c.1159C>A (p.Arg387=) c.2215C>A (p.Arg739=) | |
| 17 | g.42544164C= | CA2260530641 | NAGLU | c.2158C= (p.Arg720=) c.1327C= (p.Arg443=) c.1159C= (p.Arg387=) c.2215C= (p.Arg739=) | |
| 17 | g.42544164C>G | CA399606287 | NAGLU | c.2158C>G (p.Arg720Gly) c.1327C>G (p.Arg443Gly) c.1159C>G (p.Arg387Gly) c.2215C>G (p.Arg739Gly) | |
| 17 | g.42544164C>T | CA399606288 | NAGLU | c.2158C>T (p.Arg720Ter) c.1327C>T (p.Arg443Ter) c.1159C>T (p.Arg387Ter) c.2215C>T (p.Arg739Ter) | ClinVar dbSNP gnomAD v4 COSMIC |
| 17 | g.42544165G>A | CA8577152 | NAGLU | c.2159G>A (p.Arg720Gln) c.1328G>A (p.Arg443Gln) c.1160G>A (p.Arg387Gln) c.2216G>A (p.Arg739Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42544165G>C | CA399606290 | NAGLU | c.2159G>C (p.Arg720Pro) c.1328G>C (p.Arg443Pro) c.1160G>C (p.Arg387Pro) c.2216G>C (p.Arg739Pro) | dbSNP |
| 17 | g.42544165G= | CA2260530642 | NAGLU | c.2159G= (p.Arg720=) c.1328G= (p.Arg443=) c.1160G= (p.Arg387=) c.2216G= (p.Arg739=) | |
| 17 | g.42544165G>T | CA399606289 | NAGLU | c.2159G>T (p.Arg720Leu) c.1328G>T (p.Arg443Leu) c.1160G>T (p.Arg387Leu) c.2216G>T (p.Arg739Leu) | |
| 17 | g.42544166A>C | CA500217795 | NAGLU | c.2160A>C (p.Arg720=) c.1329A>C (p.Arg443=) c.1161A>C (p.Arg387=) c.2217A>C (p.Arg739=) | |
| 17 | g.42544166A>G | CA500217798 | NAGLU | c.2160A>G (p.Arg720=) c.1329A>G (p.Arg443=) c.1161A>G (p.Arg387=) c.2217A>G (p.Arg739=) | |
| 17 | g.42544166A>T | CA500217793 | NAGLU | c.2160A>T (p.Arg720=) c.1329A>T (p.Arg443=) c.1161A>T (p.Arg387=) c.2217A>T (p.Arg739=) | |
| 17 | g.42544167G>A | CA399606291 | NAGLU | c.2161G>A (p.Gly721Arg) c.1330G>A (p.Gly444Arg) c.1162G>A (p.Gly388Arg) c.2218G>A (p.Gly740Arg) | |
| 17 | g.42544167G>C | CA399606292 | NAGLU | c.2161G>C (p.Gly721Arg) c.1330G>C (p.Gly444Arg) c.1162G>C (p.Gly388Arg) c.2218G>C (p.Gly740Arg) | gnomAD v4 |
| 17 | g.42544167G>T | CA399606293 | NAGLU | c.2161G>T (p.Gly721Ter) c.1330G>T (p.Gly444Ter) c.1162G>T (p.Gly388Ter) c.2218G>T (p.Gly740Ter) | |
| 17 | g.42544168G>A | CA399606294 | NAGLU | c.2162G>A (p.Gly721Glu) c.1331G>A (p.Gly444Glu) c.1163G>A (p.Gly388Glu) c.2219G>A (p.Gly740Glu) | |
| 17 | g.42544168G>C | CA399606295 | NAGLU | c.2162G>C (p.Gly721Ala) c.1331G>C (p.Gly444Ala) c.1163G>C (p.Gly388Ala) c.2219G>C (p.Gly740Ala) | dbSNP |
| 17 | g.42544168G= | CA2260530643 | NAGLU | c.2162G= (p.Gly721=) c.1331G= (p.Gly444=) c.1163G= (p.Gly388=) c.2219G= (p.Gly740=) | |
| 17 | g.42544168G>T | CA399606296 | NAGLU | c.2162G>T (p.Gly721Val) c.1331G>T (p.Gly444Val) c.1163G>T (p.Gly388Val) c.2219G>T (p.Gly740Val) | gnomAD v4 |
| 17 | g.42544169A= | CA2260530644 | NAGLU | c.2163A= (p.Gly721=) c.1332A= (p.Gly444=) c.1164A= (p.Gly388=) c.2220A= (p.Gly740=) | |
| 17 | g.42544169A>C | CA500217820 | NAGLU | c.2163A>C (p.Gly721=) c.1332A>C (p.Gly444=) c.1164A>C (p.Gly388=) c.2220A>C (p.Gly740=) | dbSNP |
| 17 | g.42544169A>G | CA500217823 | NAGLU | c.2163A>G (p.Gly721=) c.1332A>G (p.Gly444=) c.1164A>G (p.Gly388=) c.2220A>G (p.Gly740=) | |
| 17 | g.42544169A>T | CA500217829 | NAGLU | c.2163A>T (p.Gly721=) c.1332A>T (p.Gly444=) c.1164A>T (p.Gly388=) c.2220A>T (p.Gly740=) | |
| 17 | g.42544170G>A | CA8577153 | NAGLU | c.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 |
| 17 | g.42544170G>C | CA399606297 | NAGLU | c.2164G>C (p.Asp722His) c.1333G>C (p.Asp445His) c.1165G>C (p.Asp389His) c.2221G>C (p.Asp741His) | |
| 17 | g.42544170G= | CA2260530645 | NAGLU | c.2164G= (p.Asp722=) c.1333G= (p.Asp445=) c.1165G= (p.Asp389=) c.2221G= (p.Asp741=) | |
| 17 | g.42544170G>T | CA399606298 | NAGLU | c.2164G>T (p.Asp722Tyr) c.1333G>T (p.Asp445Tyr) c.1165G>T (p.Asp389Tyr) c.2221G>T (p.Asp741Tyr) | |
| 17 | g.42544171A>C | CA399606299 | NAGLU | c.2165A>C (p.Asp722Ala) c.1334A>C (p.Asp445Ala) c.1166A>C (p.Asp389Ala) c.2222A>C (p.Asp741Ala) | |
| 17 | g.42544171A>G | CA399606300 | NAGLU | c.2165A>G (p.Asp722Gly) c.1334A>G (p.Asp445Gly) c.1166A>G (p.Asp389Gly) c.2222A>G (p.Asp741Gly) | |
| 17 | g.42544171A>T | CA399606301 | NAGLU | c.2165A>T (p.Asp722Val) c.1334A>T (p.Asp445Val) c.1166A>T (p.Asp389Val) c.2222A>T (p.Asp741Val) | |
| 17 | g.42544172C>A | CA399606302 | NAGLU | c.2166C>A (p.Asp722Glu) c.1335C>A (p.Asp445Glu) c.1167C>A (p.Asp389Glu) c.2223C>A (p.Asp741Glu) | |
| 17 | g.42544172C>G | CA399606303 | NAGLU | c.2166C>G (p.Asp722Glu) c.1335C>G (p.Asp445Glu) c.1167C>G (p.Asp389Glu) c.2223C>G (p.Asp741Glu) | |
| 17 | g.42544172C>T | CA500217856 | NAGLU | c.2166C>T (p.Asp722=) c.1335C>T (p.Asp445=) c.1167C>T (p.Asp389=) c.2223C>T (p.Asp741=) | |
| 17 | g.42544173A>C | CA399606304 | NAGLU | c.2167A>C (p.Thr723Pro) c.1336A>C (p.Thr446Pro) c.1168A>C (p.Thr390Pro) c.2224A>C (p.Thr742Pro) | |
| 17 | g.42544173A>G | CA399606305 | NAGLU | c.2167A>G (p.Thr723Ala) c.1336A>G (p.Thr446Ala) c.1168A>G (p.Thr390Ala) c.2224A>G (p.Thr742Ala) | |
| 17 | g.42544173A>T | CA399606306 | NAGLU | c.2167A>T (p.Thr723Ser) c.1336A>T (p.Thr446Ser) c.1168A>T (p.Thr390Ser) c.2224A>T (p.Thr742Ser) | |
| 17 | g.42544174C>A | CA399606307 | NAGLU | c.2168C>A (p.Thr723Asn) c.1337C>A (p.Thr446Asn) c.1169C>A (p.Thr390Asn) c.2225C>A (p.Thr742Asn) | |
| 17 | g.42544174C>G | CA399606308 | NAGLU | c.2168C>G (p.Thr723Ser) c.1337C>G (p.Thr446Ser) c.1169C>G (p.Thr390Ser) c.2225C>G (p.Thr742Ser) | gnomAD v4 |
| 17 | g.42544174C>T | CA399606309 | NAGLU | c.2168C>T (p.Thr723Ile) c.1337C>T (p.Thr446Ile) c.1169C>T (p.Thr390Ile) c.2225C>T (p.Thr742Ile) | |
| 17 | g.42544175T>A | CA500217879 | NAGLU | c.2169T>A (p.Thr723=) c.1338T>A (p.Thr446=) c.1170T>A (p.Thr390=) c.2226T>A (p.Thr742=) | |
| 17 | g.42544175T>C | CA500217870 | NAGLU | c.2169T>C (p.Thr723=) c.1338T>C (p.Thr446=) c.1170T>C (p.Thr390=) c.2226T>C (p.Thr742=) | ClinVar dbSNP |
| 17 | g.42544175T>G | CA500217872 | NAGLU | c.2169T>G (p.Thr723=) c.1338T>G (p.Thr446=) c.1170T>G (p.Thr390=) c.2226T>G (p.Thr742=) | |
| 17 | g.42544177_42544178del | CA645588253 | NAGLU | c.2171_2172del (p.Val724GlyfsTer?) c.1340_1341del (p.Val447GlyfsTer?) c.1172_1173del (p.Val391GlyfsTer?) c.2228_2229del (p.Val743GlyfsTer?) | ClinVar dbSNP gnomAD v4 COSMIC |
| 17 | g.42544176G>A | CA399606310 | NAGLU | c.2170G>A (p.Val724Met) c.1339G>A (p.Val447Met) c.1171G>A (p.Val391Met) c.2227G>A (p.Val743Met) | dbSNP |
| 17 | g.42544176G>C | CA399606311 | NAGLU | c.2170G>C (p.Val724Leu) c.1339G>C (p.Val447Leu) c.1171G>C (p.Val391Leu) c.2227G>C (p.Val743Leu) | |
| 17 | g.42544176G= | CA2260530646 | NAGLU | c.2170G= (p.Val724=) c.1339G= (p.Val447=) c.1171G= (p.Val391=) c.2227G= (p.Val743=) | |
| 17 | g.42544176G>T | CA399606312 | NAGLU | c.2170G>T (p.Val724Leu) c.1339G>T (p.Val447Leu) c.1171G>T (p.Val391Leu) c.2227G>T (p.Val743Leu) | |
| 17 | g.42544177T>A | CA399606313 | NAGLU | c.2171T>A (p.Val724Glu) c.1340T>A (p.Val447Glu) c.1172T>A (p.Val391Glu) c.2228T>A (p.Val743Glu) | |
| 17 | g.42544177T>C | CA399606314 | NAGLU | c.2171T>C (p.Val724Ala) c.1340T>C (p.Val447Ala) c.1172T>C (p.Val391Ala) c.2228T>C (p.Val743Ala) | |
| 17 | g.42544177T>G | CA399606315 | NAGLU | c.2171T>G (p.Val724Gly) c.1340T>G (p.Val447Gly) c.1172T>G (p.Val391Gly) c.2228T>G (p.Val743Gly) | |
| 17 | g.42544178G>A | CA500217904 | NAGLU | c.2172G>A (p.Val724=) c.1341G>A (p.Val447=) c.1173G>A (p.Val391=) c.2229G>A (p.Val743=) | |
| 17 | g.42544178G>C | CA500217907 | NAGLU | c.2172G>C (p.Val724=) c.1341G>C (p.Val447=) c.1173G>C (p.Val391=) c.2229G>C (p.Val743=) | |
| 17 | g.42544178G>T | CA500217903 | NAGLU | c.2172G>T (p.Val724=) c.1341G>T (p.Val447=) c.1173G>T (p.Val391=) c.2229G>T (p.Val743=) | |
| 17 | g.42544179G>A | CA399606317 | NAGLU | c.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 |
| 17 | g.42544179G>C | CA399606318 | NAGLU | c.2173G>C (p.Asp725His) c.1342G>C (p.Asp448His) c.1174G>C (p.Asp392His) c.2230G>C (p.Asp744His) | |
| 17 | g.42544179G= | CA2260530647 | NAGLU | c.2173G= (p.Asp725=) c.1342G= (p.Asp448=) c.1174G= (p.Asp392=) c.2230G= (p.Asp744=) | |
| 17 | g.42544179G>T | CA399606316 | NAGLU | c.2173G>T (p.Asp725Tyr) c.1342G>T (p.Asp448Tyr) c.1174G>T (p.Asp392Tyr) c.2230G>T (p.Asp744Tyr) | gnomAD v4 |
| 17 | g.42544180del | CA2537986853 | NAGLU | c.2174del (p.Asp725AlafsTer?) c.1343del (p.Asp448AlafsTer?) c.1175del (p.Asp392AlafsTer?) c.2231del (p.Asp744AlafsTer?) | |
| 17 | g.42544180A>C | CA399606319 | NAGLU | c.2174A>C (p.Asp725Ala) c.1343A>C (p.Asp448Ala) c.1175A>C (p.Asp392Ala) c.2231A>C (p.Asp744Ala) | |
| 17 | g.42544180A>G | CA399606320 | NAGLU | c.2174A>G (p.Asp725Gly) c.1343A>G (p.Asp448Gly) c.1175A>G (p.Asp392Gly) c.2231A>G (p.Asp744Gly) | |
| 17 | g.42544180A>T | CA399606321 | NAGLU | c.2174A>T (p.Asp725Val) c.1343A>T (p.Asp448Val) c.1175A>T (p.Asp392Val) c.2231A>T (p.Asp744Val) | gnomAD v4 |
| 17 | g.42544181C>A | CA399606322 | NAGLU | c.2175C>A (p.Asp725Glu) c.1344C>A (p.Asp448Glu) c.1176C>A (p.Asp392Glu) c.2232C>A (p.Asp744Glu) | |
| 17 | g.42544181C>G | CA399606323 | NAGLU | c.2175C>G (p.Asp725Glu) c.1344C>G (p.Asp448Glu) c.1176C>G (p.Asp392Glu) c.2232C>G (p.Asp744Glu) | |
| 17 | g.42544181C>T | CA500217935 | NAGLU | c.2175C>T (p.Asp725=) c.1344C>T (p.Asp448=) c.1176C>T (p.Asp392=) c.2232C>T (p.Asp744=) | gnomAD v4 |
| 17 | g.42544182C>A | CA399606325 | NAGLU | c.2176C>A (p.Leu726Met) c.1345C>A (p.Leu449Met) c.1177C>A (p.Leu393Met) c.2233C>A (p.Leu745Met) | |
| 17 | g.42544182C= | CA2260530648 | NAGLU | c.2176C= (p.Leu726=) c.1345C= (p.Leu449=) c.1177C= (p.Leu393=) c.2233C= (p.Leu745=) | |
| 17 | g.42544182C>G | CA399606324 | NAGLU | c.2176C>G (p.Leu726Val) c.1345C>G (p.Leu449Val) c.1177C>G (p.Leu393Val) c.2233C>G (p.Leu745Val) | |
| 17 | g.42544182C>T | CA500217939 | NAGLU | c.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 |
| 17 | g.42544183T>A | CA399606326 | NAGLU | c.2177T>A (p.Leu726Gln) c.1346T>A (p.Leu449Gln) c.1178T>A (p.Leu393Gln) c.2234T>A (p.Leu745Gln) | |
| 17 | g.42544183T>C | CA399606327 | NAGLU | c.2177T>C (p.Leu726Pro) c.1346T>C (p.Leu449Pro) c.1178T>C (p.Leu393Pro) c.2234T>C (p.Leu745Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.42544183T>G | CA399606328 | NAGLU | c.2177T>G (p.Leu726Arg) c.1346T>G (p.Leu449Arg) c.1178T>G (p.Leu393Arg) c.2234T>G (p.Leu745Arg) | |
| 17 | g.42544183T= | CA2260530649 | NAGLU | c.2177T= (p.Leu726=) c.1346T= (p.Leu449=) c.1178T= (p.Leu393=) c.2234T= (p.Leu745=) | |
| 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) |