Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.42544006T>A | CA399605808 | NAGLU | c.2000T>A (p.Val667Glu) c.1338T>A (n.1338T>A) c.1169T>A (p.Val390Glu) c.1001T>A (p.Val334Glu) c.2057T>A (p.Val686Glu) | |
17 | g.42544006T>C | CA399605806 | NAGLU | c.2000T>C (p.Val667Ala) c.1338T>C (n.1338T>C) c.1169T>C (p.Val390Ala) c.1001T>C (p.Val334Ala) c.2057T>C (p.Val686Ala) | |
17 | g.42544006T>G | CA399605805 | NAGLU | c.2000T>G (p.Val667Gly) c.1338T>G (n.1338T>G) c.1169T>G (p.Val390Gly) c.1001T>G (p.Val334Gly) c.2057T>G (p.Val686Gly) | |
17 | g.42544007G>A | CA500217128 | NAGLU | c.2001G>A (p.Val667=) c.1339G>A (n.1339G>A) c.1170G>A (p.Val390=) c.1002G>A (p.Val334=) c.2058G>A (p.Val686=) | ClinVar dbSNP gnomAD v4 |
17 | g.42544007G>C | CA500217126 | NAGLU | c.2001G>C (p.Val667=) c.1339G>C (n.1339G>C) c.1170G>C (p.Val390=) c.1002G>C (p.Val334=) c.2058G>C (p.Val686=) | |
17 | g.42544007G= | CA2260530567 | NAGLU | c.2001G= (p.Val667=) c.1339G= (n.1339G=) c.1170G= (p.Val390=) c.1002G= (p.Val334=) c.2058G= (p.Val686=) | |
17 | g.42544007G>T | CA500217130 | NAGLU | c.2001G>T (p.Val667=) c.1339G>T (n.1339G>T) c.1170G>T (p.Val390=) c.1002G>T (p.Val334=) c.2058G>T (p.Val686=) | |
17 | g.42544008G>A | CA399605810 | NAGLU | c.2002G>A (p.Ala668Thr) c.1340G>A (n.1340G>A) c.1171G>A (p.Ala391Thr) c.1003G>A (p.Ala335Thr) c.2059G>A (p.Ala687Thr) | gnomAD v4 |
17 | g.42544008G>C | CA399605812 | NAGLU | c.2002G>C (p.Ala668Pro) c.1340G>C (n.1340G>C) c.1171G>C (p.Ala391Pro) c.1003G>C (p.Ala335Pro) c.2059G>C (p.Ala687Pro) | |
17 | g.42544008G>T | CA399605813 | NAGLU | c.2002G>T (p.Ala668Ser) c.1340G>T (n.1340G>T) c.1171G>T (p.Ala391Ser) c.1003G>T (p.Ala335Ser) c.2059G>T (p.Ala687Ser) | |
17 | g.42544009C>A | CA399605816 | NAGLU | c.2003C>A (p.Ala668Asp) c.1341C>A (n.1341C>A) c.1172C>A (p.Ala391Asp) c.1004C>A (p.Ala335Asp) c.2060C>A (p.Ala687Asp) | |
17 | g.42544009C= | CA2260530568 | NAGLU | c.2003C= (p.Ala668=) c.1341C= (n.1341C=) c.1172C= (p.Ala391=) c.1004C= (p.Ala335=) c.2060C= (p.Ala687=) | |
17 | g.42544009C>G | CA399605817 | NAGLU | c.2003C>G (p.Ala668Gly) c.1341C>G (n.1341C>G) c.1172C>G (p.Ala391Gly) c.1004C>G (p.Ala335Gly) c.2060C>G (p.Ala687Gly) | |
17 | g.42544009C>T | CA399605819 | NAGLU | c.2003C>T (p.Ala668Val) c.1341C>T (n.1341C>T) c.1172C>T (p.Ala391Val) c.1004C>T (p.Ala335Val) c.2060C>T (p.Ala687Val) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.42544010C>A | CA500217135 | NAGLU | c.2004C>A (p.Ala668=) c.1342C>A (n.1342C>A) c.1173C>A (p.Ala391=) c.1005C>A (p.Ala335=) c.2061C>A (p.Ala687=) | ClinVar |
17 | g.42544010C= | CA2260530569 | NAGLU | c.2004C= (p.Ala668=) c.1342C= (n.1342C=) c.1173C= (p.Ala391=) c.1005C= (p.Ala335=) c.2061C= (p.Ala687=) | |
17 | g.42544010C>G | CA500217133 | NAGLU | c.2004C>G (p.Ala668=) c.1342C>G (n.1342C>G) c.1173C>G (p.Ala391=) c.1005C>G (p.Ala335=) c.2061C>G (p.Ala687=) | |
17 | g.42544010C>T | CA500217134 | NAGLU | c.2004C>T (p.Ala668=) c.1342C>T (n.1342C>T) c.1173C>T (p.Ala391=) c.1005C>T (p.Ala335=) c.2061C>T (p.Ala687=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.42544011A= | CA2260530570 | NAGLU | c.2005A= (p.Asn669=) c.1343A= (n.1343A=) c.1174A= (p.Asn392=) c.1006A= (p.Asn336=) c.2062A= (p.Asn688=) | |
17 | g.42544011A>C | CA399605822 | NAGLU | c.2005A>C (p.Asn669His) c.1343A>C (n.1343A>C) c.1174A>C (p.Asn392His) c.1006A>C (p.Asn336His) c.2062A>C (p.Asn688His) | |
17 | g.42544011A>G | CA399605823 | NAGLU | c.2005A>G (p.Asn669Asp) c.1343A>G (n.1343A>G) c.1174A>G (p.Asn392Asp) c.1006A>G (p.Asn336Asp) c.2062A>G (p.Asn688Asp) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.42544011A>T | CA399605825 | NAGLU | c.2005A>T (p.Asn669Tyr) c.1343A>T (n.1343A>T) c.1174A>T (p.Asn392Tyr) c.1006A>T (p.Asn336Tyr) c.2062A>T (p.Asn688Tyr) | |
17 | g.42544012A>C | CA399605827 | NAGLU | c.2006A>C (p.Asn669Thr) c.1344A>C (n.1344A>C) c.1175A>C (p.Asn392Thr) c.1007A>C (p.Asn336Thr) c.2063A>C (p.Asn688Thr) | |
17 | g.42544012A>G | CA399605828 | NAGLU | c.2006A>G (p.Asn669Ser) c.1344A>G (n.1344A>G) c.1175A>G (p.Asn392Ser) c.1007A>G (p.Asn336Ser) c.2063A>G (p.Asn688Ser) | gnomAD v4 |
17 | g.42544012A>T | CA399605830 | NAGLU | c.2006A>T (p.Asn669Ile) c.1344A>T (n.1344A>T) c.1175A>T (p.Asn392Ile) c.1007A>T (p.Asn336Ile) c.2063A>T (p.Asn688Ile) | |
17 | g.42544017_42544019del | CA626218624 | NAGLU | c.2011_2013del (p.Tyr671del) c.1349_1351del (n.1349_1351del) c.1180_1182del (p.Tyr394del) c.1012_1014del (p.Tyr338del) c.2068_2070del (p.Tyr690del) | gnomAD v2 |
17 | g.42544013C>A | CA399605834 | NAGLU | c.2007C>A (p.Asn669Lys) c.1345C>A (n.1345C>A) c.1176C>A (p.Asn392Lys) c.1008C>A (p.Asn336Lys) c.2064C>A (p.Asn688Lys) | |
17 | g.42544013C>G | CA399605833 | NAGLU | c.2007C>G (p.Asn669Lys) c.1345C>G (n.1345C>G) c.1176C>G (p.Asn392Lys) c.1008C>G (p.Asn336Lys) c.2064C>G (p.Asn688Lys) | gnomAD v4 |
17 | g.42544013C>T | CA500217140 | NAGLU | c.2007C>T (p.Asn669=) c.1345C>T (n.1345C>T) c.1176C>T (p.Asn392=) c.1008C>T (p.Asn336=) c.2064C>T (p.Asn688=) | gnomAD v4 |
17 | g.42544014T>A | CA399605836 | NAGLU | c.2008T>A (p.Tyr670Asn) c.1346T>A (n.1346T>A) c.1177T>A (p.Tyr393Asn) c.1009T>A (p.Tyr337Asn) c.2065T>A (p.Tyr689Asn) | |
17 | g.42544014T>C | CA399605838 | NAGLU | c.2008T>C (p.Tyr670His) c.1346T>C (n.1346T>C) c.1177T>C (p.Tyr393His) c.1009T>C (p.Tyr337His) c.2065T>C (p.Tyr689His) | |
17 | g.42544014T>G | CA399605840 | NAGLU | c.2008T>G (p.Tyr670Asp) c.1346T>G (n.1346T>G) c.1177T>G (p.Tyr393Asp) c.1009T>G (p.Tyr337Asp) c.2065T>G (p.Tyr689Asp) | |
17 | g.42544015A= | CA2260530571 | NAGLU | c.2009A= (p.Tyr670=) c.1347A= (n.1347A=) c.1178A= (p.Tyr393=) c.1010A= (p.Tyr337=) c.2066A= (p.Tyr689=) | |
17 | g.42544015A>C | CA399605842 | NAGLU | c.2009A>C (p.Tyr670Ser) c.1347A>C (n.1347A>C) c.1178A>C (p.Tyr393Ser) c.1010A>C (p.Tyr337Ser) c.2066A>C (p.Tyr689Ser) | dbSNP gnomAD v4 |
17 | g.42544015A>G | CA399605844 | NAGLU | c.2009A>G (p.Tyr670Cys) c.1347A>G (n.1347A>G) c.1178A>G (p.Tyr393Cys) c.1010A>G (p.Tyr337Cys) c.2066A>G (p.Tyr689Cys) | gnomAD v4 COSMIC |
17 | g.42544015A>T | CA399605846 | NAGLU | c.2009A>T (p.Tyr670Phe) c.1347A>T (n.1347A>T) c.1178A>T (p.Tyr393Phe) c.1010A>T (p.Tyr337Phe) c.2066A>T (p.Tyr689Phe) | |
17 | g.42544016C>A | CA399605847 | NAGLU | c.2010C>A (p.Tyr670Ter) c.1348C>A (n.1348C>A) c.1179C>A (p.Tyr393Ter) c.1011C>A (p.Tyr337Ter) c.2067C>A (p.Tyr689Ter) | |
17 | g.42544016C= | CA2260530572 | NAGLU | c.2010C= (p.Tyr670=) c.1348C= (n.1348C=) c.1179C= (p.Tyr393=) c.1011C= (p.Tyr337=) c.2067C= (p.Tyr689=) | |
17 | g.42544016C>G | CA399605849 | NAGLU | c.2010C>G (p.Tyr670Ter) c.1348C>G (n.1348C>G) c.1179C>G (p.Tyr393Ter) c.1011C>G (p.Tyr337Ter) c.2067C>G (p.Tyr689Ter) | |
17 | g.42544016C>T | CA500217143 | NAGLU | c.2010C>T (p.Tyr670=) c.1348C>T (n.1348C>T) c.1179C>T (p.Tyr393=) c.1011C>T (p.Tyr337=) c.2067C>T (p.Tyr689=) | ClinVar dbSNP gnomAD v4 |
17 | g.42544017T>A | CA399605852 | NAGLU | c.2011T>A (p.Tyr671Asn) c.1349T>A (n.1349T>A) c.1180T>A (p.Tyr394Asn) c.1012T>A (p.Tyr338Asn) c.2068T>A (p.Tyr690Asn) | |
17 | g.42544017T>C | CA399605853 | NAGLU | c.2011T>C (p.Tyr671His) c.1349T>C (n.1349T>C) c.1180T>C (p.Tyr394His) c.1012T>C (p.Tyr338His) c.2068T>C (p.Tyr690His) | gnomAD v4 |
17 | g.42544017T>G | CA399605855 | NAGLU | c.2011T>G (p.Tyr671Asp) c.1349T>G (n.1349T>G) c.1180T>G (p.Tyr394Asp) c.1012T>G (p.Tyr338Asp) c.2068T>G (p.Tyr690Asp) | gnomAD v4 |
17 | g.42544018A>C | CA399605857 | NAGLU | c.2012A>C (p.Tyr671Ser) c.1350A>C (n.1350A>C) c.1181A>C (p.Tyr394Ser) c.1013A>C (p.Tyr338Ser) c.2069A>C (p.Tyr690Ser) | |
17 | g.42544018A>G | CA399605859 | NAGLU | c.2012A>G (p.Tyr671Cys) c.1350A>G (n.1350A>G) c.1181A>G (p.Tyr394Cys) c.1013A>G (p.Tyr338Cys) c.2069A>G (p.Tyr690Cys) | |
17 | g.42544018A>T | CA399605860 | NAGLU | c.2012A>T (p.Tyr671Phe) c.1350A>T (n.1350A>T) c.1181A>T (p.Tyr394Phe) c.1013A>T (p.Tyr338Phe) c.2069A>T (p.Tyr690Phe) | |
17 | g.42544019C>A | CA399605862 | NAGLU | c.2013C>A (p.Tyr671Ter) c.1351C>A (n.1351C>A) c.1182C>A (p.Tyr394Ter) c.1014C>A (p.Tyr338Ter) c.2070C>A (p.Tyr690Ter) | |
17 | g.42544019C= | CA2260530573 | NAGLU | c.2013C= (p.Tyr671=) c.1351C= (n.1351C=) c.1182C= (p.Tyr394=) c.1014C= (p.Tyr338=) c.2070C= (p.Tyr690=) | |
17 | g.42544019C>G | CA399605864 | NAGLU | c.2013C>G (p.Tyr671Ter) c.1351C>G (n.1351C>G) c.1182C>G (p.Tyr394Ter) c.1014C>G (p.Tyr338Ter) c.2070C>G (p.Tyr690Ter) | dbSNP gnomAD v2 |
17 | g.42544019C>T | CA290781171 | NAGLU | c.2013C>T (p.Tyr671=) c.1351C>T (n.1351C>T) c.1182C>T (p.Tyr394=) c.1014C>T (p.Tyr338=) c.2070C>T (p.Tyr690=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.42544020A>C | CA399605866 | NAGLU | c.2014A>C (p.Thr672Pro) c.1352A>C (n.1352A>C) c.1183A>C (p.Thr395Pro) c.1015A>C (p.Thr339Pro) c.2071A>C (p.Thr691Pro) | gnomAD v4 |
17 | g.42544020A>G | CA399605868 | NAGLU | c.2014A>G (p.Thr672Ala) c.1352A>G (n.1352A>G) c.1183A>G (p.Thr395Ala) c.1015A>G (p.Thr339Ala) c.2071A>G (p.Thr691Ala) | |
17 | g.42544020A>T | CA399605870 | NAGLU | c.2014A>T (p.Thr672Ser) c.1352A>T (n.1352A>T) c.1183A>T (p.Thr395Ser) c.1015A>T (p.Thr339Ser) c.2071A>T (p.Thr691Ser) | |
17 | g.42544021C>A | CA399605872 | NAGLU | c.2015C>A (p.Thr672Asn) c.1353C>A (n.1353C>A) c.1184C>A (p.Thr395Asn) c.1016C>A (p.Thr339Asn) c.2072C>A (p.Thr691Asn) | dbSNP |
17 | g.42544021C= | CA2260530574 | NAGLU | c.2015C= (p.Thr672=) c.1353C= (n.1353C=) c.1184C= (p.Thr395=) c.1016C= (p.Thr339=) c.2072C= (p.Thr691=) | |
17 | g.42544021C>G | CA399605874 | NAGLU | c.2015C>G (p.Thr672Ser) c.1353C>G (n.1353C>G) c.1184C>G (p.Thr395Ser) c.1016C>G (p.Thr339Ser) c.2072C>G (p.Thr691Ser) | dbSNP |
17 | g.42544021C>T | CA399605875 | NAGLU | c.2015C>T (p.Thr672Ile) c.1353C>T (n.1353C>T) c.1184C>T (p.Thr395Ile) c.1016C>T (p.Thr339Ile) c.2072C>T (p.Thr691Ile) | ClinVar dbSNP gnomAD v4 |
17 | g.42544022C>A | CA500217154 | NAGLU | c.2016C>A (p.Thr672=) c.1354C>A (n.1354C>A) c.1185C>A (p.Thr395=) c.1017C>A (p.Thr339=) c.2073C>A (p.Thr691=) | |
17 | g.42544022C= | CA2260530575 | NAGLU | c.2016C= (p.Thr672=) c.1354C= (n.1354C=) c.1185C= (p.Thr395=) c.1017C= (p.Thr339=) c.2073C= (p.Thr691=) | |
17 | g.42544022C>G | CA500217157 | NAGLU | c.2016C>G (p.Thr672=) c.1354C>G (n.1354C>G) c.1185C>G (p.Thr395=) c.1017C>G (p.Thr339=) c.2073C>G (p.Thr691=) | |
17 | g.42544022C>T | CA500217153 | NAGLU | c.2016C>T (p.Thr672=) c.1354C>T (n.1354C>T) c.1185C>T (p.Thr395=) c.1017C>T (p.Thr339=) c.2073C>T (p.Thr691=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42544023C>A | CA399605877 | NAGLU | c.2017C>A (p.Pro673Thr) c.1355C>A (n.1355C>A) c.1186C>A (p.Pro396Thr) c.1018C>A (p.Pro340Thr) c.2074C>A (p.Pro692Thr) | |
17 | g.42544023C= | CA2260530576 | NAGLU | c.2017C= (p.Pro673=) c.1355C= (n.1355C=) c.1186C= (p.Pro396=) c.1018C= (p.Pro340=) c.2074C= (p.Pro692=) | |
17 | g.42544023C>G | CA399605879 | NAGLU | c.2017C>G (p.Pro673Ala) c.1355C>G (n.1355C>G) c.1186C>G (p.Pro396Ala) c.1018C>G (p.Pro340Ala) c.2074C>G (p.Pro692Ala) | |
17 | g.42544023C>T | CA8577129 | NAGLU | c.2017C>T (p.Pro673Ser) c.1355C>T (n.1355C>T) c.1186C>T (p.Pro396Ser) c.1018C>T (p.Pro340Ser) c.2074C>T (p.Pro692Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.42544024C>A | CA399605882 | NAGLU | c.2018C>A (p.Pro673His) c.1356C>A (n.1356C>A) c.1187C>A (p.Pro396His) c.1019C>A (p.Pro340His) c.2075C>A (p.Pro692His) | |
17 | g.42544024C>G | CA399605884 | NAGLU | c.2018C>G (p.Pro673Arg) c.1356C>G (n.1356C>G) c.1187C>G (p.Pro396Arg) c.1019C>G (p.Pro340Arg) c.2075C>G (p.Pro692Arg) | |
17 | g.42544024C>T | CA399605885 | NAGLU | c.2018C>T (p.Pro673Leu) c.1356C>T (n.1356C>T) c.1187C>T (p.Pro396Leu) c.1019C>T (p.Pro340Leu) c.2075C>T (p.Pro692Leu) | |
17 | g.42544025T>A | CA500217162 | NAGLU | c.2019T>A (p.Pro673=) c.1357T>A (n.1357T>A) c.1188T>A (p.Pro396=) c.1020T>A (p.Pro340=) c.2076T>A (p.Pro692=) | |
17 | g.42544025T>C | CA500217160 | NAGLU | c.2019T>C (p.Pro673=) c.1357T>C (n.1357T>C) c.1188T>C (p.Pro396=) c.1020T>C (p.Pro340=) c.2076T>C (p.Pro692=) | |
17 | g.42544025T>G | CA500217161 | NAGLU | c.2019T>G (p.Pro673=) c.1357T>G (n.1357T>G) c.1188T>G (p.Pro396=) c.1020T>G (p.Pro340=) c.2076T>G (p.Pro692=) | |
17 | g.42544026C>A | CA399605890 | NAGLU | c.2020C>A (p.Arg674Ser) c.1358C>A (n.1358C>A) c.1189C>A (p.Arg397Ser) c.1021C>A (p.Arg341Ser) c.2077C>A (p.Arg693Ser) | |
17 | g.42544026C= | CA2260530577 | NAGLU | c.2020C= (p.Arg674=) c.1358C= (n.1358C=) c.1189C= (p.Arg397=) c.1021C= (p.Arg341=) c.2077C= (p.Arg693=) | |
17 | g.42544026C>G | CA399605888 | NAGLU | c.2020C>G (p.Arg674Gly) c.1358C>G (n.1358C>G) c.1189C>G (p.Arg397Gly) c.1021C>G (p.Arg341Gly) c.2077C>G (p.Arg693Gly) | |
17 | g.42544026C>T | CA8577130 | NAGLU | c.2020C>T (p.Arg674Cys) c.1358C>T (n.1358C>T) c.1189C>T (p.Arg397Cys) c.1021C>T (p.Arg341Cys) c.2077C>T (p.Arg693Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42544027G>A | CA115042 | NAGLU | c.2021G>A (p.Arg674His) c.1359G>A (n.1359G>A) c.1190G>A (p.Arg397His) c.1022G>A (p.Arg341His) c.2078G>A (p.Arg693His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.42544027G>C | CA399605895 | NAGLU | c.2021G>C (p.Arg674Pro) c.1359G>C (n.1359G>C) c.1190G>C (p.Arg397Pro) c.1022G>C (p.Arg341Pro) c.2078G>C (p.Arg693Pro) | |
17 | g.42544027G= | CA2260530578 | NAGLU | c.2021G= (p.Arg674=) c.1359G= (n.1359G=) c.1190G= (p.Arg397=) c.1022G= (p.Arg341=) c.2078G= (p.Arg693=) | |
17 | g.42544027G>T | CA399605893 | NAGLU | c.2021G>T (p.Arg674Leu) c.1359G>T (n.1359G>T) c.1190G>T (p.Arg397Leu) c.1022G>T (p.Arg341Leu) c.2078G>T (p.Arg693Leu) | ClinVar dbSNP |
17 | g.42544028C>A | CA500217165 | NAGLU | c.2022C>A (p.Arg674=) c.1360C>A (n.1360C>A) c.1191C>A (p.Arg397=) c.1023C>A (p.Arg341=) c.2079C>A (p.Arg693=) | |
17 | g.42544028C>G | CA500217166 | NAGLU | c.2022C>G (p.Arg674=) c.1360C>G (n.1360C>G) c.1191C>G (p.Arg397=) c.1023C>G (p.Arg341=) c.2079C>G (p.Arg693=) | |
17 | g.42544028C>T | CA500217167 | NAGLU | c.2022C>T (p.Arg674=) c.1360C>T (n.1360C>T) c.1191C>T (p.Arg397=) c.1023C>T (p.Arg341=) c.2079C>T (p.Arg693=) | ClinVar dbSNP gnomAD v4 |
17 | g.42544029T>A | CA399605897 | NAGLU | c.2023T>A (p.Trp675Arg) c.1361T>A (n.1361T>A) c.1192T>A (p.Trp398Arg) c.1024T>A (p.Trp342Arg) c.2080T>A (p.Trp694Arg) | |
17 | g.42544029T>C | CA399605901 | NAGLU | c.2023T>C (p.Trp675Arg) c.1361T>C (n.1361T>C) c.1192T>C (p.Trp398Arg) c.1024T>C (p.Trp342Arg) c.2080T>C (p.Trp694Arg) | dbSNP gnomAD v4 |
17 | g.42544029T>G | CA399605898 | NAGLU | c.2023T>G (p.Trp675Gly) c.1361T>G (n.1361T>G) c.1192T>G (p.Trp398Gly) c.1024T>G (p.Trp342Gly) c.2080T>G (p.Trp694Gly) | |
17 | g.42544029T= | CA2260530579 | NAGLU | c.2023T= (p.Trp675=) c.1361T= (n.1361T=) c.1192T= (p.Trp398=) c.1024T= (p.Trp342=) c.2080T= (p.Trp694=) | |
17 | g.42544030G>A | CA399605903 | NAGLU | c.2024G>A (p.Trp675Ter) c.1362G>A (n.1362G>A) c.1193G>A (p.Trp398Ter) c.1025G>A (p.Trp342Ter) c.2081G>A (p.Trp694Ter) | dbSNP gnomAD v2 |
17 | g.42544030G>C | CA399605905 | NAGLU | c.2024G>C (p.Trp675Ser) c.1362G>C (n.1362G>C) c.1193G>C (p.Trp398Ser) c.1025G>C (p.Trp342Ser) c.2081G>C (p.Trp694Ser) | |
17 | g.42544030G= | CA2260530580 | NAGLU | c.2024G= (p.Trp675=) c.1362G= (n.1362G=) c.1193G= (p.Trp398=) c.1025G= (p.Trp342=) c.2081G= (p.Trp694=) | |
17 | g.42544030G>T | CA399605907 | NAGLU | c.2024G>T (p.Trp675Leu) c.1362G>T (n.1362G>T) c.1193G>T (p.Trp398Leu) c.1025G>T (p.Trp342Leu) c.2081G>T (p.Trp694Leu) | |
17 | g.42544031G>A | CA399605909 | NAGLU | c.2025G>A (p.Trp675Ter) c.1363G>A (n.1363G>A) c.1194G>A (p.Trp398Ter) c.1026G>A (p.Trp342Ter) c.2082G>A (p.Trp694Ter) | |
17 | g.42544031G>C | CA399605910 | NAGLU | c.2025G>C (p.Trp675Cys) c.1363G>C (n.1363G>C) c.1194G>C (p.Trp398Cys) c.1026G>C (p.Trp342Cys) c.2082G>C (p.Trp694Cys) | |
17 | g.42544031G>T | CA399605912 | NAGLU | c.2025G>T (p.Trp675Cys) c.1363G>T (n.1363G>T) c.1194G>T (p.Trp398Cys) c.1026G>T (p.Trp342Cys) c.2082G>T (p.Trp694Cys) | |
17 | g.42544032C>A | CA500217172 | NAGLU | c.2026C>A (p.Arg676=) c.1364C>A (n.1364C>A) c.1195C>A (p.Arg399=) c.1027C>A (p.Arg343=) c.2083C>A (p.Arg695=) | |
17 | g.42544032C= | CA2260530581 | NAGLU | c.2026C= (p.Arg676=) c.1364C= (n.1364C=) c.1195C= (p.Arg399=) c.1027C= (p.Arg343=) c.2083C= (p.Arg695=) | |
17 | g.42544032C>G | CA399605914 | NAGLU | c.2026C>G (p.Arg676Gly) c.1364C>G (n.1364C>G) c.1195C>G (p.Arg399Gly) c.1027C>G (p.Arg343Gly) c.2083C>G (p.Arg695Gly) | |
17 | g.42544032C>T | CA8577131 | NAGLU | c.2026C>T (p.Arg676Trp) c.1364C>T (n.1364C>T) c.1195C>T (p.Arg399Trp) c.1027C>T (p.Arg343Trp) c.2083C>T (p.Arg695Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42544033G>A | CA399605918 | NAGLU | c.2027G>A (p.Arg676Gln) c.1365G>A (n.1365G>A) c.1196G>A (p.Arg399Gln) c.1028G>A (p.Arg343Gln) c.2084G>A (p.Arg695Gln) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.42544033G>C | CA399605919 | NAGLU | c.2027G>C (p.Arg676Pro) c.1365G>C (n.1365G>C) c.1196G>C (p.Arg399Pro) c.1028G>C (p.Arg343Pro) c.2084G>C (p.Arg695Pro) | gnomAD v4 |
17 | g.42544033G= | CA2260530582 | NAGLU | c.2027G= (p.Arg676=) c.1365G= (n.1365G=) c.1196G= (p.Arg399=) c.1028G= (p.Arg343=) c.2084G= (p.Arg695=) | |
17 | g.42544033G>T | CA399605921 | NAGLU | c.2027G>T (p.Arg676Leu) c.1365G>T (n.1365G>T) c.1196G>T (p.Arg399Leu) c.1028G>T (p.Arg343Leu) c.2084G>T (p.Arg695Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42544034G>A | CA500217177 | NAGLU | c.2028G>A (p.Arg676=) c.1366G>A (n.1366G>A) c.1197G>A (p.Arg399=) c.1029G>A (p.Arg343=) c.2085G>A (p.Arg695=) | gnomAD v4 |
17 | g.42544034G>C | CA500217178 | NAGLU | c.2028G>C (p.Arg676=) c.1366G>C (n.1366G>C) c.1197G>C (p.Arg399=) c.1029G>C (p.Arg343=) c.2085G>C (p.Arg695=) | |
17 | g.42544034G>T | CA500217174 | NAGLU | c.2028G>T (p.Arg676=) c.1366G>T (n.1366G>T) c.1197G>T (p.Arg399=) c.1029G>T (p.Arg343=) c.2085G>T (p.Arg695=) | |
17 | g.42544035C>A | CA399605925 | NAGLU | c.2029C>A (p.Leu677Ile) c.1367C>A (n.1367C>A) c.1198C>A (p.Leu400Ile) c.1030C>A (p.Leu344Ile) c.2086C>A (p.Leu696Ile) | dbSNP gnomAD v2 |
17 | g.42544035C= | CA2260530583 | NAGLU | c.2029C= (p.Leu677=) c.1367C= (n.1367C=) c.1198C= (p.Leu400=) c.1030C= (p.Leu344=) c.2086C= (p.Leu696=) | |
17 | g.42544035C>G | CA399605923 | NAGLU | c.2029C>G (p.Leu677Val) c.1367C>G (n.1367C>G) c.1198C>G (p.Leu400Val) c.1030C>G (p.Leu344Val) c.2086C>G (p.Leu696Val) | |
17 | g.42544035C>T | CA399605924 | NAGLU | c.2029C>T (p.Leu677Phe) c.1367C>T (n.1367C>T) c.1198C>T (p.Leu400Phe) c.1030C>T (p.Leu344Phe) c.2086C>T (p.Leu696Phe) | |
17 | g.42544036T>A | CA399605927 | NAGLU | c.2030T>A (p.Leu677His) c.1368T>A (n.1368T>A) c.1199T>A (p.Leu400His) c.1031T>A (p.Leu344His) c.2087T>A (p.Leu696His) | |
17 | g.42544036T>C | CA399605929 | NAGLU | c.2030T>C (p.Leu677Pro) c.1368T>C (n.1368T>C) c.1199T>C (p.Leu400Pro) c.1031T>C (p.Leu344Pro) c.2087T>C (p.Leu696Pro) | |
17 | g.42544036T>G | CA399605930 | NAGLU | c.2030T>G (p.Leu677Arg) c.1368T>G (n.1368T>G) c.1199T>G (p.Leu400Arg) c.1031T>G (p.Leu344Arg) c.2087T>G (p.Leu696Arg) | |
17 | g.42544039del | CA2637976282 | NAGLU | c.2033del (p.Phe678SerfsTer?) c.1371del (n.1371del) c.1202del (p.Phe401SerfsTer?) c.1034del (p.Phe345SerfsTer?) c.2090del (p.Phe697SerfsTer?) | gnomAD v4 |
17 | g.42544037T>A | CA500217179 | NAGLU | c.2031T>A (p.Leu677=) c.1369T>A (n.1369T>A) c.1200T>A (p.Leu400=) c.1032T>A (p.Leu344=) c.2088T>A (p.Leu696=) | |
17 | g.42544037T>C | CA500217180 | NAGLU | c.2031T>C (p.Leu677=) c.1369T>C (n.1369T>C) c.1200T>C (p.Leu400=) c.1032T>C (p.Leu344=) c.2088T>C (p.Leu696=) | |
17 | g.42544037T>G | CA500217181 | NAGLU | c.2031T>G (p.Leu677=) c.1369T>G (n.1369T>G) c.1200T>G (p.Leu400=) c.1032T>G (p.Leu344=) c.2088T>G (p.Leu696=) | |
17 | g.42544038T>A | CA399605932 | NAGLU | c.2032T>A (p.Phe678Ile) c.1370T>A (n.1370T>A) c.1201T>A (p.Phe401Ile) c.1033T>A (p.Phe345Ile) c.2089T>A (p.Phe697Ile) | |
17 | g.42544038T>C | CA399605933 | NAGLU | c.2032T>C (p.Phe678Leu) c.1370T>C (n.1370T>C) c.1201T>C (p.Phe401Leu) c.1033T>C (p.Phe345Leu) c.2089T>C (p.Phe697Leu) | ClinVar dbSNP |
17 | g.42544038T>G | CA399605934 | NAGLU | c.2032T>G (p.Phe678Val) c.1370T>G (n.1370T>G) c.1201T>G (p.Phe401Val) c.1033T>G (p.Phe345Val) c.2089T>G (p.Phe697Val) | |
17 | g.42544039T>A | CA399605936 | NAGLU | c.2033T>A (p.Phe678Tyr) c.1371T>A (n.1371T>A) c.1202T>A (p.Phe401Tyr) c.1034T>A (p.Phe345Tyr) c.2090T>A (p.Phe697Tyr) | |
17 | g.42544039T>C | CA399605937 | NAGLU | c.2033T>C (p.Phe678Ser) c.1371T>C (n.1371T>C) c.1202T>C (p.Phe401Ser) c.1034T>C (p.Phe345Ser) c.2090T>C (p.Phe697Ser) | |
17 | g.42544039T>G | CA399605938 | NAGLU | c.2033T>G (p.Phe678Cys) c.1371T>G (n.1371T>G) c.1202T>G (p.Phe401Cys) c.1034T>G (p.Phe345Cys) c.2090T>G (p.Phe697Cys) | |
17 | g.42544040C>A | CA399605940 | NAGLU | c.2034C>A (p.Phe678Leu) c.1372C>A (n.1372C>A) c.1203C>A (p.Phe401Leu) c.1035C>A (p.Phe345Leu) c.2091C>A (p.Phe697Leu) | |
17 | g.42544040C>G | CA399605942 | NAGLU | c.2034C>G (p.Phe678Leu) c.1372C>G (n.1372C>G) c.1203C>G (p.Phe401Leu) c.1035C>G (p.Phe345Leu) c.2091C>G (p.Phe697Leu) | |
17 | g.42544040C>T | CA500217187 | NAGLU | c.2034C>T (p.Phe678=) c.1372C>T (n.1372C>T) c.1203C>T (p.Phe401=) c.1035C>T (p.Phe345=) c.2091C>T (p.Phe697=) | |
17 | g.42544041C>A | CA399605947 | NAGLU | c.2035C>A (p.Leu679Met) c.1373C>A (n.1373C>A) c.1204C>A (p.Leu402Met) c.1036C>A (p.Leu346Met) c.2092C>A (p.Leu698Met) | |
17 | g.42544041C>G | CA399605946 | NAGLU | c.2035C>G (p.Leu679Val) c.1373C>G (n.1373C>G) c.1204C>G (p.Leu402Val) c.1036C>G (p.Leu346Val) c.2092C>G (p.Leu698Val) | |
17 | g.42544041C>T | CA500217191 | NAGLU | c.2035C>T (p.Leu679=) c.1373C>T (n.1373C>T) c.1204C>T (p.Leu402=) c.1036C>T (p.Leu346=) c.2092C>T (p.Leu698=) | gnomAD v4 COSMIC |
17 | g.42544042T>A | CA399605950 | NAGLU | c.2036T>A (p.Leu679Gln) c.1374T>A (n.1374T>A) c.1205T>A (p.Leu402Gln) c.1037T>A (p.Leu346Gln) c.2093T>A (p.Leu698Gln) | |
17 | g.42544042T>C | CA399605952 | NAGLU | c.2036T>C (p.Leu679Pro) c.1374T>C (n.1374T>C) c.1205T>C (p.Leu402Pro) c.1037T>C (p.Leu346Pro) c.2093T>C (p.Leu698Pro) | |
17 | g.42544042T>G | CA399605953 | NAGLU | c.2036T>G (p.Leu679Arg) c.1374T>G (n.1374T>G) c.1205T>G (p.Leu402Arg) c.1037T>G (p.Leu346Arg) c.2093T>G (p.Leu698Arg) | |
17 | g.42544044_42544056del | CA2580093763 | NAGLU | c.2038_2050del (p.Glu680ThrfsTer?) c.1376_1388del (n.1376_1388del) c.1207_1219del (p.Glu403ThrfsTer?) c.1039_1051del (p.Glu347ThrfsTer?) c.2095_2107del (p.Glu699ThrfsTer?) | ClinVar |
17 | g.42544043G>A | CA500217197 | NAGLU | c.2037G>A (p.Leu679=) c.1375G>A (n.1375G>A) c.1206G>A (p.Leu402=) c.1038G>A (p.Leu346=) c.2094G>A (p.Leu698=) | dbSNP gnomAD v2 |
17 | g.42544043G>C | CA500217195 | NAGLU | c.2037G>C (p.Leu679=) c.1375G>C (n.1375G>C) c.1206G>C (p.Leu402=) c.1038G>C (p.Leu346=) c.2094G>C (p.Leu698=) | |
17 | g.42544043G= | CA2260530584 | NAGLU | c.2037G= (p.Leu679=) c.1375G= (n.1375G=) c.1206G= (p.Leu402=) c.1038G= (p.Leu346=) c.2094G= (p.Leu698=) | |
17 | g.42544043G>T | CA500217196 | NAGLU | c.2037G>T (p.Leu679=) c.1375G>T (n.1375G>T) c.1206G>T (p.Leu402=) c.1038G>T (p.Leu346=) c.2094G>T (p.Leu698=) | |
17 | g.42544044G>A | CA399605956 | NAGLU | c.2038G>A (p.Glu680Lys) c.1376G>A (n.1376G>A) c.1207G>A (p.Glu403Lys) c.1039G>A (p.Glu347Lys) c.2095G>A (p.Glu699Lys) | |
17 | g.42544044G>C | CA399605958 | NAGLU | c.2038G>C (p.Glu680Gln) c.1376G>C (n.1376G>C) c.1207G>C (p.Glu403Gln) c.1039G>C (p.Glu347Gln) c.2095G>C (p.Glu699Gln) | |
17 | g.42544044G>T | CA399605959 | NAGLU | c.2038G>T (p.Glu680Ter) c.1376G>T (n.1376G>T) c.1207G>T (p.Glu403Ter) c.1039G>T (p.Glu347Ter) c.2095G>T (p.Glu699Ter) | |
17 | g.42544045A>C | CA399605964 | NAGLU | c.2039A>C (p.Glu680Ala) c.1377A>C (n.1377A>C) c.1208A>C (p.Glu403Ala) c.1040A>C (p.Glu347Ala) c.2096A>C (p.Glu699Ala) | |
17 | g.42544045A>G | CA399605960 | NAGLU | c.2039A>G (p.Glu680Gly) c.1377A>G (n.1377A>G) c.1208A>G (p.Glu403Gly) c.1040A>G (p.Glu347Gly) c.2096A>G (p.Glu699Gly) | |
17 | g.42544045A>T | CA399605962 | NAGLU | c.2039A>T (p.Glu680Val) c.1377A>T (n.1377A>T) c.1208A>T (p.Glu403Val) c.1040A>T (p.Glu347Val) c.2096A>T (p.Glu699Val) | |
17 | g.42544046G>A | CA500217205 | NAGLU | c.2040G>A (p.Glu680=) c.1378G>A (n.1378G>A) c.1209G>A (p.Glu403=) c.1041G>A (p.Glu347=) c.2097G>A (p.Glu699=) | |
17 | g.42544046G>C | CA399605965 | NAGLU | c.2040G>C (p.Glu680Asp) c.1378G>C (n.1378G>C) c.1209G>C (p.Glu403Asp) c.1041G>C (p.Glu347Asp) c.2097G>C (p.Glu699Asp) | |
17 | g.42544046G>T | CA399605967 | NAGLU | c.2040G>T (p.Glu680Asp) c.1378G>T (n.1378G>T) c.1209G>T (p.Glu403Asp) c.1041G>T (p.Glu347Asp) c.2097G>T (p.Glu699Asp) | |
17 | g.42544047G>A | CA399605968 | NAGLU | c.2041G>A (p.Ala681Thr) c.1379G>A (n.1379G>A) c.1210G>A (p.Ala404Thr) c.1042G>A (p.Ala348Thr) c.2098G>A (p.Ala700Thr) | |
17 | g.42544047G>C | CA399605970 | NAGLU | c.2041G>C (p.Ala681Pro) c.1379G>C (n.1379G>C) c.1210G>C (p.Ala404Pro) c.1042G>C (p.Ala348Pro) c.2098G>C (p.Ala700Pro) | |
17 | g.42544047G>T | CA399605971 | NAGLU | c.2041G>T (p.Ala681Ser) c.1379G>T (n.1379G>T) c.1210G>T (p.Ala404Ser) c.1042G>T (p.Ala348Ser) c.2098G>T (p.Ala700Ser) | |
17 | g.42544048C>A | CA399605973 | NAGLU | c.2042C>A (p.Ala681Glu) c.1380C>A (n.1380C>A) c.1211C>A (p.Ala404Glu) c.1043C>A (p.Ala348Glu) c.2099C>A (p.Ala700Glu) | |
17 | g.42544048C= | CA2260530585 | NAGLU | c.2042C= (p.Ala681=) c.1380C= (n.1380C=) c.1211C= (p.Ala404=) c.1043C= (p.Ala348=) c.2099C= (p.Ala700=) | |
17 | g.42544048C>G | CA399605976 | NAGLU | c.2042C>G (p.Ala681Gly) c.1380C>G (n.1380C>G) c.1211C>G (p.Ala404Gly) c.1043C>G (p.Ala348Gly) c.2099C>G (p.Ala700Gly) | ClinVar |
17 | g.42544048C>T | CA8577132 | NAGLU | c.2042C>T (p.Ala681Val) c.1380C>T (n.1380C>T) c.1211C>T (p.Ala404Val) c.1043C>T (p.Ala348Val) c.2099C>T (p.Ala700Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.42544049G>A | CA8577133 | NAGLU | c.2043G>A (p.Ala681=) c.1381G>A (n.1381G>A) c.1212G>A (p.Ala404=) c.1044G>A (p.Ala348=) c.2100G>A (p.Ala700=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.42544049G>C | CA500217221 | NAGLU | c.2043G>C (p.Ala681=) c.1381G>C (n.1381G>C) c.1212G>C (p.Ala404=) c.1044G>C (p.Ala348=) c.2100G>C (p.Ala700=) | |
17 | g.42544049G= | CA2260530586 | NAGLU | c.2043G= (p.Ala681=) c.1381G= (n.1381G=) c.1212G= (p.Ala404=) c.1044G= (p.Ala348=) c.2100G= (p.Ala700=) | |
17 | g.42544049G>T | CA500217226 | NAGLU | c.2043G>T (p.Ala681=) c.1381G>T (n.1381G>T) c.1212G>T (p.Ala404=) c.1044G>T (p.Ala348=) c.2100G>T (p.Ala700=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.42544050C>A | CA399605979 | NAGLU | c.2044C>A (p.Leu682Met) c.1382C>A (n.1382C>A) c.1213C>A (p.Leu405Met) c.1045C>A (p.Leu349Met) c.2101C>A (p.Leu701Met) | |
17 | g.42544050C= | CA2260530587 | NAGLU | c.2044C= (p.Leu682=) c.1382C= (n.1382C=) c.1213C= (p.Leu405=) c.1045C= (p.Leu349=) c.2101C= (p.Leu701=) | |
17 | g.42544050C>G | CA399605981 | NAGLU | c.2044C>G (p.Leu682Val) c.1382C>G (n.1382C>G) c.1213C>G (p.Leu405Val) c.1045C>G (p.Leu349Val) c.2101C>G (p.Leu701Val) | ClinVar dbSNP |
17 | g.42544050C>T | CA500217227 | NAGLU | c.2044C>T (p.Leu682=) c.1382C>T (n.1382C>T) c.1213C>T (p.Leu405=) c.1045C>T (p.Leu349=) c.2101C>T (p.Leu701=) | ClinVar dbSNP gnomAD v4 |
17 | g.42544051T>A | CA399605982 | NAGLU | c.2045T>A (p.Leu682Gln) c.1383T>A (n.1383T>A) c.1214T>A (p.Leu405Gln) c.1046T>A (p.Leu349Gln) c.2102T>A (p.Leu701Gln) | |
17 | g.42544051T>C | CA399605983 | NAGLU | c.2045T>C (p.Leu682Pro) c.1383T>C (n.1383T>C) c.1214T>C (p.Leu405Pro) c.1046T>C (p.Leu349Pro) c.2102T>C (p.Leu701Pro) | gnomAD v4 |
17 | g.42544051T>G | CA399605985 | NAGLU | c.2045T>G (p.Leu682Arg) c.1383T>G (n.1383T>G) c.1214T>G (p.Leu405Arg) c.1046T>G (p.Leu349Arg) c.2102T>G (p.Leu701Arg) | ClinVar dbSNP gnomAD v4 |
17 | g.42544051T= | CA2260530588 | NAGLU | c.2045T= (p.Leu682=) c.1383T= (n.1383T=) c.1214T= (p.Leu405=) c.1046T= (p.Leu349=) c.2102T= (p.Leu701=) | |
17 | g.42544052G>A | CA500217238 | NAGLU | c.2046G>A (p.Leu682=) c.1384G>A (n.1384G>A) c.1215G>A (p.Leu405=) c.1047G>A (p.Leu349=) c.2103G>A (p.Leu701=) | ClinVar gnomAD v4 |
17 | g.42544052G>C | CA500217241 | NAGLU | c.2046G>C (p.Leu682=) c.1384G>C (n.1384G>C) c.1215G>C (p.Leu405=) c.1047G>C (p.Leu349=) c.2103G>C (p.Leu701=) | |
17 | g.42544052G>T | CA500217239 | NAGLU | c.2046G>T (p.Leu682=) c.1384G>T (n.1384G>T) c.1215G>T (p.Leu405=) c.1047G>T (p.Leu349=) c.2103G>T (p.Leu701=) | |
17 | g.42544053G>A | CA399605988 | NAGLU | c.2047G>A (p.Val683Ile) c.1385G>A (n.1385G>A) c.1216G>A (p.Val406Ile) c.1048G>A (p.Val350Ile) c.2104G>A (p.Val702Ile) | |
17 | g.42544053G>C | CA399605989 | NAGLU | c.2047G>C (p.Val683Leu) c.1385G>C (n.1385G>C) c.1216G>C (p.Val406Leu) c.1048G>C (p.Val350Leu) c.2104G>C (p.Val702Leu) | |
17 | g.42544053G>T | CA399605991 | NAGLU | c.2047G>T (p.Val683Phe) c.1385G>T (n.1385G>T) c.1216G>T (p.Val406Phe) c.1048G>T (p.Val350Phe) c.2104G>T (p.Val702Phe) | |
17 | g.42544054T>A | CA399605993 | NAGLU | c.2048T>A (p.Val683Asp) c.1386T>A (n.1386T>A) c.1217T>A (p.Val406Asp) c.1049T>A (p.Val350Asp) c.2105T>A (p.Val702Asp) | |
17 | g.42544054T>C | CA399605995 | NAGLU | c.2048T>C (p.Val683Ala) c.1386T>C (n.1386T>C) c.1217T>C (p.Val406Ala) c.1049T>C (p.Val350Ala) c.2105T>C (p.Val702Ala) | dbSNP |
17 | g.42544054T>G | CA399605997 | NAGLU | c.2048T>G (p.Val683Gly) c.1386T>G (n.1386T>G) c.1217T>G (p.Val406Gly) c.1049T>G (p.Val350Gly) c.2105T>G (p.Val702Gly) | |
17 | g.42544055T>A | CA500217249 | NAGLU | c.2049T>A (p.Val683=) c.1387T>A (n.1387T>A) c.1218T>A (p.Val406=) c.1050T>A (p.Val350=) c.2106T>A (p.Val702=) | |
17 | g.42544055T>C | CA500217247 | NAGLU | c.2049T>C (p.Val683=) c.1387T>C (n.1387T>C) c.1218T>C (p.Val406=) c.1050T>C (p.Val350=) c.2106T>C (p.Val702=) | |
17 | g.42544055T>G | CA500217248 | NAGLU | c.2049T>G (p.Val683=) c.1387T>G (n.1387T>G) c.1218T>G (p.Val406=) c.1050T>G (p.Val350=) c.2106T>G (p.Val702=) | |
17 | g.42544056G>A | CA399606002 | NAGLU | c.2050G>A (p.Asp684Asn) c.1388G>A (n.1388G>A) c.1219G>A (p.Asp407Asn) c.1051G>A (p.Asp351Asn) c.2107G>A (p.Asp703Asn) | |
17 | g.42544056G>C | CA399606000 | NAGLU | c.2050G>C (p.Asp684His) c.1388G>C (n.1388G>C) c.1219G>C (p.Asp407His) c.1051G>C (p.Asp351His) c.2107G>C (p.Asp703His) | |
17 | g.42544056G>T | CA399605999 | NAGLU | c.2050G>T (p.Asp684Tyr) c.1388G>T (n.1388G>T) c.1219G>T (p.Asp407Tyr) c.1051G>T (p.Asp351Tyr) c.2107G>T (p.Asp703Tyr) | |
17 | g.42544057A>C | CA399606005 | NAGLU | c.2051A>C (p.Asp684Ala) c.1389A>C (n.1389A>C) c.1220A>C (p.Asp407Ala) c.1052A>C (p.Asp351Ala) c.2108A>C (p.Asp703Ala) | |
17 | g.42544057A>G | CA399606004 | NAGLU | c.2051A>G (p.Asp684Gly) c.1389A>G (n.1389A>G) c.1220A>G (p.Asp407Gly) c.1052A>G (p.Asp351Gly) c.2108A>G (p.Asp703Gly) | |
17 | g.42544057A>T | CA399606007 | NAGLU | c.2051A>T (p.Asp684Val) c.1389A>T (n.1389A>T) c.1220A>T (p.Asp407Val) c.1052A>T (p.Asp351Val) c.2108A>T (p.Asp703Val) | |
17 | g.42544058C>A | CA399606009 | NAGLU | c.2052C>A (p.Asp684Glu) c.1390C>A (n.1390C>A) c.1221C>A (p.Asp407Glu) c.1053C>A (p.Asp351Glu) c.2109C>A (p.Asp703Glu) | |
17 | g.42544058C>G | CA399606011 | NAGLU | c.2052C>G (p.Asp684Glu) c.1390C>G (n.1390C>G) c.1221C>G (p.Asp407Glu) c.1053C>G (p.Asp351Glu) c.2109C>G (p.Asp703Glu) | |
17 | g.42544058C>T | CA500217256 | NAGLU | c.2052C>T (p.Asp684=) c.1390C>T (n.1390C>T) c.1221C>T (p.Asp407=) c.1053C>T (p.Asp351=) c.2109C>T (p.Asp703=) | |
17 | g.42544058_42544060del | CA913012296 | NAGLU | c.2052_2054del (p.Ser685del) c.1390_1392del (n.1390_1392del) c.1221_1223del (p.Ser408del) c.1053_1055del (p.Ser352del) c.2109_2111del (p.Ser704del) | |
17 | g.42544058_42544060delinsCAG | CA2260530589 | NAGLU | c.2052_2054delinsCAG (p.Asp684=) c.1390_1392delinsCAG (n.1390_1392delinsCAG) c.1221_1223delinsCAG (p.Asp407=) c.1053_1055delinsCAG (p.Asp351=) c.2109_2111delinsCAG (p.Asp703=) | |
17 | g.42544059A>C | CA399606013 | NAGLU | c.2053A>C (p.Ser685Arg) c.1391A>C (n.1391A>C) c.1222A>C (p.Ser408Arg) c.1054A>C (p.Ser352Arg) c.2110A>C (p.Ser704Arg) | ClinVar gnomAD v4 |
17 | g.42544059A>G | CA399606014 | NAGLU | c.2053A>G (p.Ser685Gly) c.1391A>G (n.1391A>G) c.1222A>G (p.Ser408Gly) c.1054A>G (p.Ser352Gly) c.2110A>G (p.Ser704Gly) | ClinVar dbSNP |
17 | g.42544059A>T | CA399606016 | NAGLU | c.2053A>T (p.Ser685Cys) c.1391A>T (n.1391A>T) c.1222A>T (p.Ser408Cys) c.1054A>T (p.Ser352Cys) c.2110A>T (p.Ser704Cys) | |
17 | g.42544059_42544060del | CA658823968 | NAGLU | c.2053_2054del (p.Ser685CysfsTer13) c.1391_1392del (n.1391_1392del) c.1222_1223del (p.Ser408CysfsTer13) c.1054_1055del (p.Ser352CysfsTer13) c.2110_2111del (p.Ser704CysfsTer13) | ClinVar dbSNP gnomAD v4 |
17 | g.42544059_42544060delinsAG | CA2260530590 | NAGLU | c.2053_2054delinsAG (p.Ser685=) c.1391_1392delinsAG (n.1391_1392delinsAG) c.1222_1223delinsAG (p.Ser408=) c.1054_1055delinsAG (p.Ser352=) c.2110_2111delinsAG (p.Ser704=) | |
17 | g.42544060del | CA626218625 | NAGLU | c.2054del (p.Ser685MetfsTer?) c.1392del (n.1392del) c.1223del (p.Ser408MetfsTer?) c.1055del (p.Ser352MetfsTer?) c.2111del (p.Ser704MetfsTer?) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42544060G>A | CA399606020 | NAGLU | c.2054G>A (p.Ser685Asn) c.1392G>A (n.1392G>A) c.1223G>A (p.Ser408Asn) c.1055G>A (p.Ser352Asn) c.2111G>A (p.Ser704Asn) | dbSNP gnomAD v4 |
17 | g.42544060G>C | CA399606019 | NAGLU | c.2054G>C (p.Ser685Thr) c.1392G>C (n.1392G>C) c.1223G>C (p.Ser408Thr) c.1055G>C (p.Ser352Thr) c.2111G>C (p.Ser704Thr) | ClinVar gnomAD v4 |
17 | g.42544060G= | CA2260530591 | NAGLU | c.2054G= (p.Ser685=) c.1392G= (n.1392G=) c.1223G= (p.Ser408=) c.1055G= (p.Ser352=) c.2111G= (p.Ser704=) | |
17 | g.42544060G>T | CA399606018 | NAGLU | c.2054G>T (p.Ser685Ile) c.1392G>T (n.1392G>T) c.1223G>T (p.Ser408Ile) c.1055G>T (p.Ser352Ile) c.2111G>T (p.Ser704Ile) | ClinVar |
17 | g.42544061T>A | CA399606022 | NAGLU | c.2055T>A (p.Ser685Arg) c.1393T>A (n.1393T>A) c.1224T>A (p.Ser408Arg) c.1056T>A (p.Ser352Arg) c.2112T>A (p.Ser704Arg) | |
17 | g.42544061T>C | CA8577134 | NAGLU | c.2055T>C (p.Ser685=) c.1393T>C (n.1393T>C) c.1224T>C (p.Ser408=) c.1056T>C (p.Ser352=) c.2112T>C (p.Ser704=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.42544061T>G | CA399606024 | NAGLU | c.2055T>G (p.Ser685Arg) c.1393T>G (n.1393T>G) c.1224T>G (p.Ser408Arg) c.1056T>G (p.Ser352Arg) c.2112T>G (p.Ser704Arg) | |
17 | g.42544061T= | CA2260530592 | NAGLU | c.2055T= (p.Ser685=) c.1393T= (n.1393T=) c.1224T= (p.Ser408=) c.1056T= (p.Ser352=) c.2112T= (p.Ser704=) | |
17 | g.42544062G>A | CA399606027 | NAGLU | c.2056G>A (p.Val686Met) c.1394G>A (n.1394G>A) c.1225G>A (p.Val409Met) c.1057G>A (p.Val353Met) c.2113G>A (p.Val705Met) | |
17 | g.42544062G>C | CA399606029 | NAGLU | c.2056G>C (p.Val686Leu) c.1394G>C (n.1394G>C) c.1225G>C (p.Val409Leu) c.1057G>C (p.Val353Leu) c.2113G>C (p.Val705Leu) | |
17 | g.42544062G>T | CA399606030 | NAGLU | c.2056G>T (p.Val686Leu) c.1394G>T (n.1394G>T) c.1225G>T (p.Val409Leu) c.1057G>T (p.Val353Leu) c.2113G>T (p.Val705Leu) | |
17 | g.42544063T>A | CA399606031 | NAGLU | c.2057T>A (p.Val686Glu) c.1395T>A (n.1395T>A) c.1226T>A (p.Val409Glu) c.1058T>A (p.Val353Glu) c.2114T>A (p.Val705Glu) | |
17 | g.42544063T>C | CA8577135 | NAGLU | c.2057T>C (p.Val686Ala) c.1395T>C (n.1395T>C) c.1226T>C (p.Val409Ala) c.1058T>C (p.Val353Ala) c.2114T>C (p.Val705Ala) | dbSNP ExAC gnomAD v2 |
17 | g.42544063T>G | CA399606033 | NAGLU | c.2057T>G (p.Val686Gly) c.1395T>G (n.1395T>G) c.1226T>G (p.Val409Gly) c.1058T>G (p.Val353Gly) c.2114T>G (p.Val705Gly) | |
17 | g.42544063T= | CA2260530593 | NAGLU | c.2057T= (p.Val686=) c.1395T= (n.1395T=) c.1226T= (p.Val409=) c.1058T= (p.Val353=) c.2114T= (p.Val705=) | |
17 | g.42544064G>A | CA290781205 | NAGLU | c.2058G>A (p.Val686=) c.1396G>A (n.1396G>A) c.1227G>A (p.Val409=) c.1059G>A (p.Val353=) c.2115G>A (p.Val705=) | dbSNP |
17 | g.42544064G>C | CA500217266 | NAGLU | c.2058G>C (p.Val686=) c.1396G>C (n.1396G>C) c.1227G>C (p.Val409=) c.1059G>C (p.Val353=) c.2115G>C (p.Val705=) | |
17 | g.42544064G= | CA2260530594 | NAGLU | c.2058G= (p.Val686=) c.1396G= (n.1396G=) c.1227G= (p.Val409=) c.1059G= (p.Val353=) c.2115G= (p.Val705=) | |
17 | g.42544064G>T | CA500217263 | NAGLU | c.2058G>T (p.Val686=) c.1396G>T (n.1396G>T) c.1227G>T (p.Val409=) c.1059G>T (p.Val353=) c.2115G>T (p.Val705=) | |
17 | g.42544065G>A | CA399606037 | NAGLU | c.2059G>A (p.Ala687Thr) c.1397G>A (n.1397G>A) c.1228G>A (p.Ala410Thr) c.1060G>A (p.Ala354Thr) c.2116G>A (p.Ala706Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.42544065G>C | CA399606039 | NAGLU | c.2059G>C (p.Ala687Pro) c.1397G>C (n.1397G>C) c.1228G>C (p.Ala410Pro) c.1060G>C (p.Ala354Pro) c.2116G>C (p.Ala706Pro) | |
17 | g.42544065G= | CA2260530595 | NAGLU | c.2059G= (p.Ala687=) c.1397G= (n.1397G=) c.1228G= (p.Ala410=) c.1060G= (p.Ala354=) c.2116G= (p.Ala706=) | |
17 | g.42544065G>T | CA399606041 | NAGLU | c.2059G>T (p.Ala687Ser) c.1397G>T (n.1397G>T) c.1228G>T (p.Ala410Ser) c.1060G>T (p.Ala354Ser) c.2116G>T (p.Ala706Ser) | |
17 | g.42544066C>A | CA399606042 | NAGLU | c.2060C>A (p.Ala687Asp) c.1398C>A (n.1398C>A) c.1229C>A (p.Ala410Asp) c.1061C>A (p.Ala354Asp) c.2117C>A (p.Ala706Asp) | |
17 | g.42544066C>G | CA399606043 | NAGLU | c.2060C>G (p.Ala687Gly) c.1398C>G (n.1398C>G) c.1229C>G (p.Ala410Gly) c.1061C>G (p.Ala354Gly) c.2117C>G (p.Ala706Gly) | |
17 | g.42544066C>T | CA399606045 | NAGLU | c.2060C>T (p.Ala687Val) c.1398C>T (n.1398C>T) c.1229C>T (p.Ala410Val) c.1061C>T (p.Ala354Val) c.2117C>T (p.Ala706Val) | |
17 | g.42544067C>A | CA500217270 | NAGLU | c.2061C>A (p.Ala687=) c.1399C>A (n.1399C>A) c.1230C>A (p.Ala410=) c.1062C>A (p.Ala354=) c.2118C>A (p.Ala706=) | |
17 | g.42544067C>G | CA500217271 | NAGLU | c.2061C>G (p.Ala687=) c.1399C>G (n.1399C>G) c.1230C>G (p.Ala410=) c.1062C>G (p.Ala354=) c.2118C>G (p.Ala706=) | |
17 | g.42544067C>T | CA500217272 | NAGLU | c.2061C>T (p.Ala687=) c.1399C>T (n.1399C>T) c.1230C>T (p.Ala410=) c.1062C>T (p.Ala354=) c.2118C>T (p.Ala706=) | ClinVar gnomAD v4 |
17 | g.42544068C>A | CA399606047 | NAGLU | c.2062C>A (p.Gln688Lys) c.1400C>A (n.1400C>A) c.1231C>A (p.Gln411Lys) c.1063C>A (p.Gln355Lys) c.2119C>A (p.Gln707Lys) | |
17 | g.42544068C= | CA2260530596 | NAGLU | c.2062C= (p.Gln688=) c.1400C= (n.1400C=) c.1231C= (p.Gln411=) c.1063C= (p.Gln355=) c.2119C= (p.Gln707=) | |
17 | g.42544068C>G | CA399606048 | NAGLU | c.2062C>G (p.Gln688Glu) c.1400C>G (n.1400C>G) c.1231C>G (p.Gln411Glu) c.1063C>G (p.Gln355Glu) c.2119C>G (p.Gln707Glu) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.42544068C>T | CA399606050 | NAGLU | c.2062C>T (p.Gln688Ter) c.1400C>T (n.1400C>T) c.1231C>T (p.Gln411Ter) c.1063C>T (p.Gln355Ter) c.2119C>T (p.Gln707Ter) | ClinVar dbSNP |
17 | g.42544069A= | CA2260530597 | NAGLU | c.2063A= (p.Gln688=) c.1401A= (n.1401A=) c.1232A= (p.Gln411=) c.1064A= (p.Gln355=) c.2120A= (p.Gln707=) | |
17 | g.42544069A>C | CA399606054 | NAGLU | c.2063A>C (p.Gln688Pro) c.1401A>C (n.1401A>C) c.1232A>C (p.Gln411Pro) c.1064A>C (p.Gln355Pro) c.2120A>C (p.Gln707Pro) | |
17 | g.42544069A>G | CA8577136 | NAGLU | c.2063A>G (p.Gln688Arg) c.1401A>G (n.1401A>G) c.1232A>G (p.Gln411Arg) c.1064A>G (p.Gln355Arg) c.2120A>G (p.Gln707Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42544069A>T | CA399606052 | NAGLU | c.2063A>T (p.Gln688Leu) c.1401A>T (n.1401A>T) c.1232A>T (p.Gln411Leu) c.1064A>T (p.Gln355Leu) c.2120A>T (p.Gln707Leu) | |
17 | g.42544070G>A | CA500217279 | NAGLU | c.2064G>A (p.Gln688=) c.1402G>A (n.1402G>A) c.1233G>A (p.Gln411=) c.1065G>A (p.Gln355=) c.2121G>A (p.Gln707=) | |
17 | g.42544070G>C | CA399606056 | NAGLU | c.2064G>C (p.Gln688His) c.1402G>C (n.1402G>C) c.1233G>C (p.Gln411His) c.1065G>C (p.Gln355His) c.2121G>C (p.Gln707His) | |
17 | g.42544070G>T | CA399606058 | NAGLU | c.2064G>T (p.Gln688His) c.1402G>T (n.1402G>T) c.1233G>T (p.Gln411His) c.1065G>T (p.Gln355His) c.2121G>T (p.Gln707His) | |
17 | g.42544072del | CA2740095370 | NAGLU | c.2066del (p.Gly689AlafsTer?) c.1404del (n.1404del) c.1235del (p.Gly412AlafsTer?) c.1067del (p.Gly356AlafsTer?) c.2123del (p.Gly708AlafsTer?) | ClinVar |
17 | g.42544071G>A | CA399606060 | NAGLU | c.2065G>A (p.Gly689Ser) c.1403G>A (n.1403G>A) c.1234G>A (p.Gly412Ser) c.1066G>A (p.Gly356Ser) c.2122G>A (p.Gly708Ser) | dbSNP gnomAD v2 |
17 | g.42544071G>C | CA399606062 | NAGLU | c.2065G>C (p.Gly689Arg) c.1403G>C (n.1403G>C) c.1234G>C (p.Gly412Arg) c.1066G>C (p.Gly356Arg) c.2122G>C (p.Gly708Arg) | |
17 | g.42544071G= | CA2260530598 | NAGLU | c.2065G= (p.Gly689=) c.1403G= (n.1403G=) c.1234G= (p.Gly412=) c.1066G= (p.Gly356=) c.2122G= (p.Gly708=) | |
17 | g.42544071G>T | CA399606064 | NAGLU | c.2065G>T (p.Gly689Cys) c.1403G>T (n.1403G>T) c.1234G>T (p.Gly412Cys) c.1066G>T (p.Gly356Cys) c.2122G>T (p.Gly708Cys) | |
17 | g.42544072G>A | CA399606066 | NAGLU | c.2066G>A (p.Gly689Asp) c.1404G>A (n.1404G>A) c.1235G>A (p.Gly412Asp) c.1067G>A (p.Gly356Asp) c.2123G>A (p.Gly708Asp) | |
17 | g.42544072G>C | CA399606068 | NAGLU | c.2066G>C (p.Gly689Ala) c.1404G>C (n.1404G>C) c.1235G>C (p.Gly412Ala) c.1067G>C (p.Gly356Ala) c.2123G>C (p.Gly708Ala) | |
17 | g.42544072G>T | CA399606069 | NAGLU | c.2066G>T (p.Gly689Val) c.1404G>T (n.1404G>T) c.1235G>T (p.Gly412Val) c.1067G>T (p.Gly356Val) c.2123G>T (p.Gly708Val) | |
17 | g.42544073C>A | CA500217285 | NAGLU | c.2067C>A (p.Gly689=) c.1405C>A (n.1405C>A) c.1236C>A (p.Gly412=) c.1068C>A (p.Gly356=) c.2124C>A (p.Gly708=) | |
17 | g.42544073C>G | CA500217284 | NAGLU | c.2067C>G (p.Gly689=) c.1405C>G (n.1405C>G) c.1236C>G (p.Gly412=) c.1068C>G (p.Gly356=) c.2124C>G (p.Gly708=) | |
17 | g.42544073C>T | CA500217286 | NAGLU | c.2067C>T (p.Gly689=) c.1405C>T (n.1405C>T) c.1236C>T (p.Gly412=) c.1068C>T (p.Gly356=) c.2124C>T (p.Gly708=) | ClinVar |
17 | g.42544074A= | CA2260530599 | NAGLU | c.2068A= (p.Ile690=) c.1406A= (n.1406A=) c.1237A= (p.Ile413=) c.1069A= (p.Ile357=) c.2125A= (p.Ile709=) | |
17 | g.42544074A>C | CA399606071 | NAGLU | c.2068A>C (p.Ile690Leu) c.1406A>C (n.1406A>C) c.1237A>C (p.Ile413Leu) c.1069A>C (p.Ile357Leu) c.2125A>C (p.Ile709Leu) | |
17 | g.42544074A>G | CA290781207 | NAGLU | c.2068A>G (p.Ile690Val) c.1406A>G (n.1406A>G) c.1237A>G (p.Ile413Val) c.1069A>G (p.Ile357Val) c.2125A>G (p.Ile709Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.42544074A>T | CA399606074 | NAGLU | c.2068A>T (p.Ile690Phe) c.1406A>T (n.1406A>T) c.1237A>T (p.Ile413Phe) c.1069A>T (p.Ile357Phe) c.2125A>T (p.Ile709Phe) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.42544075T>A | CA399606076 | NAGLU | c.2069T>A (p.Ile690Asn) c.1407T>A (n.1407T>A) c.1238T>A (p.Ile413Asn) c.1070T>A (p.Ile357Asn) c.2126T>A (p.Ile709Asn) | |
17 | g.42544075T>C | CA399606077 | NAGLU | c.2069T>C (p.Ile690Thr) c.1407T>C (n.1407T>C) c.1238T>C (p.Ile413Thr) c.1070T>C (p.Ile357Thr) c.2126T>C (p.Ile709Thr) | |
17 | g.42544075T>G | CA399606078 | NAGLU | c.2069T>G (p.Ile690Ser) c.1407T>G (n.1407T>G) c.1238T>G (p.Ile413Ser) c.1070T>G (p.Ile357Ser) c.2126T>G (p.Ile709Ser) | |
17 | g.42544076C>A | CA500217292 | NAGLU | c.2070C>A (p.Ile690=) c.1408C>A (n.1408C>A) c.1239C>A (p.Ile413=) c.1071C>A (p.Ile357=) c.2127C>A (p.Ile709=) | |
17 | g.42544076C>G | CA399606080 | NAGLU | c.2070C>G (p.Ile690Met) c.1408C>G (n.1408C>G) c.1239C>G (p.Ile413Met) c.1071C>G (p.Ile357Met) c.2127C>G (p.Ile709Met) | |
17 | g.42544076C>T | CA500217294 | NAGLU | c.2070C>T (p.Ile690=) c.1408C>T (n.1408C>T) c.1239C>T (p.Ile413=) c.1071C>T (p.Ile357=) c.2127C>T (p.Ile709=) | ClinVar |
17 | g.42544077C>A | CA399606082 | NAGLU | c.2071C>A (p.Pro691Thr) c.1409C>A (n.1409C>A) c.1240C>A (p.Pro414Thr) c.1072C>A (p.Pro358Thr) c.2128C>A (p.Pro710Thr) | |
17 | g.42544077C= | CA2260530600 | NAGLU | c.2071C= (p.Pro691=) c.1409C= (n.1409C=) c.1240C= (p.Pro414=) c.1072C= (p.Pro358=) c.2128C= (p.Pro710=) | |
17 | g.42544077C>G | CA399606083 | NAGLU | c.2071C>G (p.Pro691Ala) c.1409C>G (n.1409C>G) c.1240C>G (p.Pro414Ala) c.1072C>G (p.Pro358Ala) c.2128C>G (p.Pro710Ala) | |
17 | g.42544077C>T | CA399606085 | NAGLU | c.2071C>T (p.Pro691Ser) c.1409C>T (n.1409C>T) c.1240C>T (p.Pro414Ser) c.1072C>T (p.Pro358Ser) c.2128C>T (p.Pro710Ser) | dbSNP gnomAD v4 |
17 | g.42544078C>A | CA399606088 | NAGLU | c.2072C>A (p.Pro691His) c.1410C>A (n.1410C>A) c.1241C>A (p.Pro414His) c.1073C>A (p.Pro358His) c.2129C>A (p.Pro710His) | |
17 | g.42544078C>G | CA399606089 | NAGLU | c.2072C>G (p.Pro691Arg) c.1410C>G (n.1410C>G) c.1241C>G (p.Pro414Arg) c.1073C>G (p.Pro358Arg) c.2129C>G (p.Pro710Arg) | |
17 | g.42544078C>T | CA399606090 | NAGLU | c.2072C>T (p.Pro691Leu) c.1410C>T (n.1410C>T) c.1241C>T (p.Pro414Leu) c.1073C>T (p.Pro358Leu) c.2129C>T (p.Pro710Leu) | |
17 | g.42544079T>A | CA500217300 | NAGLU | c.2073T>A (p.Pro691=) c.1411T>A (n.1411T>A) c.1242T>A (p.Pro414=) c.1074T>A (p.Pro358=) c.2130T>A (p.Pro710=) | |
17 | g.42544079T>C | CA500217298 | NAGLU | c.2073T>C (p.Pro691=) c.1411T>C (n.1411T>C) c.1242T>C (p.Pro414=) c.1074T>C (p.Pro358=) c.2130T>C (p.Pro710=) | |
17 | g.42544079T>G | CA500217299 | NAGLU | c.2073T>G (p.Pro691=) c.1411T>G (n.1411T>G) c.1242T>G (p.Pro414=) c.1074T>G (p.Pro358=) c.2130T>G (p.Pro710=) | |
17 | g.42544080T>A | CA399606091 | NAGLU | c.2074T>A (p.Phe692Ile) c.1412T>A (n.1412T>A) c.1243T>A (p.Phe415Ile) c.1075T>A (p.Phe359Ile) c.2131T>A (p.Phe711Ile) | |
17 | g.42544080T>C | CA399606092 | NAGLU | c.2074T>C (p.Phe692Leu) c.1412T>C (n.1412T>C) c.1243T>C (p.Phe415Leu) c.1075T>C (p.Phe359Leu) c.2131T>C (p.Phe711Leu) | |
17 | g.42544080T>G | CA399606093 | NAGLU | c.2074T>G (p.Phe692Val) c.1412T>G (n.1412T>G) c.1243T>G (p.Phe415Val) c.1075T>G (p.Phe359Val) c.2131T>G (p.Phe711Val) | |
17 | g.42544081T>A | CA399606094 | NAGLU | c.2075T>A (p.Phe692Tyr) c.1413T>A (n.1413T>A) c.1244T>A (p.Phe415Tyr) c.1076T>A (p.Phe359Tyr) c.2132T>A (p.Phe711Tyr) | |
17 | g.42544081T>C | CA399606095 | NAGLU | c.2075T>C (p.Phe692Ser) c.1413T>C (n.1413T>C) c.1244T>C (p.Phe415Ser) c.1076T>C (p.Phe359Ser) c.2132T>C (p.Phe711Ser) | |
17 | g.42544081T>G | CA399606096 | NAGLU | c.2075T>G (p.Phe692Cys) c.1413T>G (n.1413T>G) c.1244T>G (p.Phe415Cys) c.1076T>G (p.Phe359Cys) c.2132T>G (p.Phe711Cys) | dbSNP gnomAD v4 |
17 | g.42544081T= | CA2260530601 | NAGLU | c.2075T= (p.Phe692=) c.1413T= (n.1413T=) c.1244T= (p.Phe415=) c.1076T= (p.Phe359=) c.2132T= (p.Phe711=) | |
17 | g.42544082C>A | CA399606097 | NAGLU | c.2076C>A (p.Phe692Leu) c.1414C>A (n.1414C>A) c.1245C>A (p.Phe415Leu) c.1077C>A (p.Phe359Leu) c.2133C>A (p.Phe711Leu) | |
17 | g.42544082C= | CA2260530602 | NAGLU | c.2076C= (p.Phe692=) c.1414C= (n.1414C=) c.1245C= (p.Phe415=) c.1077C= (p.Phe359=) c.2133C= (p.Phe711=) | |
17 | g.42544082C>G | CA399606098 | NAGLU | c.2076C>G (p.Phe692Leu) c.1414C>G (n.1414C>G) c.1245C>G (p.Phe415Leu) c.1077C>G (p.Phe359Leu) c.2133C>G (p.Phe711Leu) | ClinVar dbSNP gnomAD v4 |
17 | g.42544082C>T | CA500217305 | NAGLU | c.2076C>T (p.Phe692=) c.1414C>T (n.1414C>T) c.1245C>T (p.Phe415=) c.1077C>T (p.Phe359=) c.2133C>T (p.Phe711=) | ClinVar dbSNP gnomAD v4 |
17 | g.42544083C>A | CA399606100 | NAGLU | c.2077C>A (p.Gln693Lys) c.1415C>A (n.1415C>A) c.1246C>A (p.Gln416Lys) c.1078C>A (p.Gln360Lys) c.2134C>A (p.Gln712Lys) | |
17 | g.42544083C>G | CA399606101 | NAGLU | c.2077C>G (p.Gln693Glu) c.1415C>G (n.1415C>G) c.1246C>G (p.Gln416Glu) c.1078C>G (p.Gln360Glu) c.2134C>G (p.Gln712Glu) | |
17 | g.42544083C>T | CA399606099 | NAGLU | c.2077C>T (p.Gln693Ter) c.1415C>T (n.1415C>T) c.1246C>T (p.Gln416Ter) c.1078C>T (p.Gln360Ter) c.2134C>T (p.Gln712Ter) | |
17 | g.42544084A>C | CA399606102 | NAGLU | c.2078A>C (p.Gln693Pro) c.1416A>C (n.1416A>C) c.1247A>C (p.Gln416Pro) c.1079A>C (p.Gln360Pro) c.2135A>C (p.Gln712Pro) | |
17 | g.42544084A>G | CA399606104 | NAGLU | c.2078A>G (p.Gln693Arg) c.1416A>G (n.1416A>G) c.1247A>G (p.Gln416Arg) c.1079A>G (p.Gln360Arg) c.2135A>G (p.Gln712Arg) | |
17 | g.42544084A>T | CA399606103 | NAGLU | c.2078A>T (p.Gln693Leu) c.1416A>T (n.1416A>T) c.1247A>T (p.Gln416Leu) c.1079A>T (p.Gln360Leu) c.2135A>T (p.Gln712Leu) | |
17 | g.42544085A= | CA2260530603 | NAGLU | c.2079A= (p.Gln693=) c.1417A= (n.1417A=) c.1248A= (p.Gln416=) c.1080A= (p.Gln360=) c.2136A= (p.Gln712=) | |
17 | g.42544085A>C | CA399606105 | NAGLU | c.2079A>C (p.Gln693His) c.1417A>C (n.1417A>C) c.1248A>C (p.Gln416His) c.1080A>C (p.Gln360His) c.2136A>C (p.Gln712His) | |
17 | g.42544085A>G | CA500217311 | NAGLU | c.2079A>G (p.Gln693=) c.1417A>G (n.1417A>G) c.1248A>G (p.Gln416=) c.1080A>G (p.Gln360=) c.2136A>G (p.Gln712=) | dbSNP gnomAD v4 |
17 | g.42544085A>T | CA399606106 | NAGLU | c.2079A>T (p.Gln693His) c.1417A>T (n.1417A>T) c.1248A>T (p.Gln416His) c.1080A>T (p.Gln360His) c.2136A>T (p.Gln712His) | |
17 | g.42544086C>A | CA399606107 | NAGLU | c.2080C>A (p.Gln694Lys) c.1418C>A (n.1418C>A) c.1249C>A (p.Gln417Lys) c.1081C>A (p.Gln361Lys) c.2137C>A (p.Gln713Lys) | |
17 | g.42544086C= | CA2260530604 | NAGLU | c.2080C= (p.Gln694=) c.1418C= (n.1418C=) c.1249C= (p.Gln417=) c.1081C= (p.Gln361=) c.2137C= (p.Gln713=) | |
17 | g.42544086C>G | CA399606108 | NAGLU | c.2080C>G (p.Gln694Glu) c.1418C>G (n.1418C>G) c.1249C>G (p.Gln417Glu) c.1081C>G (p.Gln361Glu) c.2137C>G (p.Gln713Glu) | |
17 | g.42544086C>T | CA399606109 | NAGLU | c.2080C>T (p.Gln694Ter) c.1418C>T (n.1418C>T) c.1249C>T (p.Gln417Ter) c.1081C>T (p.Gln361Ter) c.2137C>T (p.Gln713Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.42544087A>C | CA399606110 | NAGLU | c.2081A>C (p.Gln694Pro) c.1419A>C (n.1419A>C) c.1250A>C (p.Gln417Pro) c.1082A>C (p.Gln361Pro) c.2138A>C (p.Gln713Pro) | |
17 | g.42544087A>G | CA399606111 | NAGLU | c.2081A>G (p.Gln694Arg) c.1419A>G (n.1419A>G) c.1250A>G (p.Gln417Arg) c.1082A>G (p.Gln361Arg) c.2138A>G (p.Gln713Arg) | |
17 | g.42544087A>T | CA399606112 | NAGLU | c.2081A>T (p.Gln694Leu) c.1419A>T (n.1419A>T) c.1250A>T (p.Gln417Leu) c.1082A>T (p.Gln361Leu) c.2138A>T (p.Gln713Leu) | |
17 | g.42544088G>A | CA500217315 | NAGLU | c.2082G>A (p.Gln694=) c.1420G>A (n.1420G>A) c.1251G>A (p.Gln417=) c.1083G>A (p.Gln361=) c.2139G>A (p.Gln713=) | COSMIC |
17 | g.42544088G>C | CA399606113 | NAGLU | c.2082G>C (p.Gln694His) c.1420G>C (n.1420G>C) c.1251G>C (p.Gln417His) c.1083G>C (p.Gln361His) c.2139G>C (p.Gln713His) | |
17 | g.42544088G>T | CA399606114 | NAGLU | c.2082G>T (p.Gln694His) c.1420G>T (n.1420G>T) c.1251G>T (p.Gln417His) c.1083G>T (p.Gln361His) c.2139G>T (p.Gln713His) | |
17 | g.42544089C>A | CA399606115 | NAGLU | c.2083C>A (p.His695Asn) c.1421C>A (n.1421C>A) c.1252C>A (p.His418Asn) c.1084C>A (p.His362Asn) c.2140C>A (p.His714Asn) | |
17 | g.42544089C= | CA2260530605 | NAGLU | c.2083C= (p.His695=) c.1421C= (n.1421C=) c.1252C= (p.His418=) c.1084C= (p.His362=) c.2140C= (p.His714=) | |
17 | g.42544089C>G | CA399606116 | NAGLU | c.2083C>G (p.His695Asp) c.1421C>G (n.1421C>G) c.1252C>G (p.His418Asp) c.1084C>G (p.His362Asp) c.2140C>G (p.His714Asp) | gnomAD v4 |
17 | g.42544089C>T | CA8577137 | NAGLU | c.2083C>T (p.His695Tyr) c.1421C>T (n.1421C>T) c.1252C>T (p.His418Tyr) c.1084C>T (p.His362Tyr) c.2140C>T (p.His714Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42544090A>C | CA399606117 | NAGLU | c.2084A>C (p.His695Pro) c.1422A>C (n.1422A>C) c.1253A>C (p.His418Pro) c.1085A>C (p.His362Pro) c.2141A>C (p.His714Pro) | |
17 | g.42544090A>G | CA399606119 | NAGLU | c.2084A>G (p.His695Arg) c.1422A>G (n.1422A>G) c.1253A>G (p.His418Arg) c.1085A>G (p.His362Arg) c.2141A>G (p.His714Arg) | |
17 | g.42544090A>T | CA399606118 | NAGLU | c.2084A>T (p.His695Leu) c.1422A>T (n.1422A>T) c.1253A>T (p.His418Leu) c.1085A>T (p.His362Leu) c.2141A>T (p.His714Leu) | |
17 | g.42544091C>A | CA399606120 | NAGLU | c.2085C>A (p.His695Gln) c.1423C>A (n.1423C>A) c.1254C>A (p.His418Gln) c.1086C>A (p.His362Gln) c.2142C>A (p.His714Gln) | gnomAD v4 |
17 | g.42544091C= | CA2260530606 | NAGLU | c.2085C= (p.His695=) c.1423C= (n.1423C=) c.1254C= (p.His418=) c.1086C= (p.His362=) c.2142C= (p.His714=) | |
17 | g.42544091C>G | CA290781215 | NAGLU | c.2085C>G (p.His695Gln) c.1423C>G (n.1423C>G) c.1254C>G (p.His418Gln) c.1086C>G (p.His362Gln) c.2142C>G (p.His714Gln) | ClinVar dbSNP gnomAD v4 |
17 | g.42544091C>T | CA500217320 | NAGLU | c.2085C>T (p.His695=) c.1423C>T (n.1423C>T) c.1254C>T (p.His418=) c.1086C>T (p.His362=) c.2142C>T (p.His714=) | ClinVar |
17 | g.42544092C>A | CA399606121 | NAGLU | c.2086C>A (p.Gln696Lys) c.1424C>A (n.1424C>A) c.1255C>A (p.Gln419Lys) c.1087C>A (p.Gln363Lys) c.2143C>A (p.Gln715Lys) | |
17 | g.42544092C>G | CA399606122 | NAGLU | c.2086C>G (p.Gln696Glu) c.1424C>G (n.1424C>G) c.1255C>G (p.Gln419Glu) c.1087C>G (p.Gln363Glu) c.2143C>G (p.Gln715Glu) | |
17 | g.42544092C>T | CA399606123 | NAGLU | c.2086C>T (p.Gln696Ter) c.1424C>T (n.1424C>T) c.1255C>T (p.Gln419Ter) c.1087C>T (p.Gln363Ter) c.2143C>T (p.Gln715Ter) | COSMIC |
17 | g.42544092_42544093del | CA645588251 | NAGLU | c.2086_2087del (p.Gln696ValfsTer2) c.1424_1425del (n.1424_1425del) c.1255_1256del (p.Gln419ValfsTer2) c.1087_1088del (p.Gln363ValfsTer2) c.2143_2144del (p.Gln715ValfsTer2) | COSMIC |
17 | g.42544093A= | CA2260530607 | NAGLU | c.2087A= (p.Gln696=) c.1425A= (n.1425A=) c.1256A= (p.Gln419=) c.1088A= (p.Gln363=) c.2144A= (p.Gln715=) | |
17 | g.42544093A>C | CA399606124 | NAGLU | c.2087A>C (p.Gln696Pro) c.1425A>C (n.1425A>C) c.1256A>C (p.Gln419Pro) c.1088A>C (p.Gln363Pro) c.2144A>C (p.Gln715Pro) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.42544093A>G | CA399606125 | NAGLU | c.2087A>G (p.Gln696Arg) c.1425A>G (n.1425A>G) c.1256A>G (p.Gln419Arg) c.1088A>G (p.Gln363Arg) c.2144A>G (p.Gln715Arg) | |
17 | g.42544093A>T | CA399606126 | NAGLU | c.2087A>T (p.Gln696Leu) c.1425A>T (n.1425A>T) c.1256A>T (p.Gln419Leu) c.1088A>T (p.Gln363Leu) c.2144A>T (p.Gln715Leu) | |
17 | g.42544094G>A | CA500217330 | NAGLU | c.2088G>A (p.Gln696=) c.1426G>A (n.1426G>A) c.1257G>A (p.Gln419=) c.1089G>A (p.Gln363=) c.2145G>A (p.Gln715=) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
17 | g.42544094G>C | CA399606127 | NAGLU | c.2088G>C (p.Gln696His) c.1426G>C (n.1426G>C) c.1257G>C (p.Gln419His) c.1089G>C (p.Gln363His) c.2145G>C (p.Gln715His) | gnomAD v4 |
17 | g.42544094G= | CA2260530608 | NAGLU | c.2088G= (p.Gln696=) c.1426G= (n.1426G=) c.1257G= (p.Gln419=) c.1089G= (p.Gln363=) c.2145G= (p.Gln715=) | |
17 | g.42544094G>T | CA399606128 | NAGLU | c.2088G>T (p.Gln696His) c.1426G>T (n.1426G>T) c.1257G>T (p.Gln419His) c.1089G>T (p.Gln363His) c.2145G>T (p.Gln715His) | |
17 | g.42544095T>A | CA399606131 | NAGLU | c.2089T>A (p.Phe697Ile) c.1427T>A (n.1427T>A) c.1258T>A (p.Phe420Ile) c.1090T>A (p.Phe364Ile) c.2146T>A (p.Phe716Ile) | |
17 | g.42544095T>C | CA399606130 | NAGLU | c.2089T>C (p.Phe697Leu) c.1427T>C (n.1427T>C) c.1258T>C (p.Phe420Leu) c.1090T>C (p.Phe364Leu) c.2146T>C (p.Phe716Leu) | |
17 | g.42544095T>G | CA399606129 | NAGLU | c.2089T>G (p.Phe697Val) c.1427T>G (n.1427T>G) c.1258T>G (p.Phe420Val) c.1090T>G (p.Phe364Val) c.2146T>G (p.Phe716Val) | |
17 | g.42544096T>A | CA399606134 | NAGLU | c.2090T>A (p.Phe697Tyr) c.1428T>A (n.1428T>A) c.1259T>A (p.Phe420Tyr) c.1091T>A (p.Phe364Tyr) c.2147T>A (p.Phe716Tyr) | |
17 | g.42544096T>C | CA399606132 | NAGLU | c.2090T>C (p.Phe697Ser) c.1428T>C (n.1428T>C) c.1259T>C (p.Phe420Ser) c.1091T>C (p.Phe364Ser) c.2147T>C (p.Phe716Ser) | |
17 | g.42544096T>G | CA399606133 | NAGLU | c.2090T>G (p.Phe697Cys) c.1428T>G (n.1428T>G) c.1259T>G (p.Phe420Cys) c.1091T>G (p.Phe364Cys) c.2147T>G (p.Phe716Cys) | |
17 | g.42544097T>A | CA399606135 | NAGLU | c.2091T>A (p.Phe697Leu) c.1429T>A (n.1429T>A) c.1260T>A (p.Phe420Leu) c.1092T>A (p.Phe364Leu) c.2148T>A (p.Phe716Leu) | |
17 | g.42544097T>C | CA500217337 | NAGLU | c.2091T>C (p.Phe697=) c.1429T>C (n.1429T>C) c.1260T>C (p.Phe420=) c.1092T>C (p.Phe364=) c.2148T>C (p.Phe716=) | |
17 | g.42544097T>G | CA399606136 | NAGLU | c.2091T>G (p.Phe697Leu) c.1429T>G (n.1429T>G) c.1260T>G (p.Phe420Leu) c.1092T>G (p.Phe364Leu) c.2148T>G (p.Phe716Leu) | |
17 | g.42544097_42544098delinsTG | CA2260530609 | NAGLU | c.2091_2092delinsTG (p.Phe697=) c.1429_1430delinsTG (n.1429_1430delinsTG) c.1260_1261delinsTG (p.Phe420=) c.1092_1093delinsTG (p.Phe364=) c.2148_2149delinsTG (p.Phe716=) | |
17 | g.42544098del | CA8577138 | NAGLU | c.2092del (p.Asp698ThrfsTer?) c.1430del (n.1430del) c.1261del (p.Asp421ThrfsTer?) c.1093del (p.Asp365ThrfsTer?) c.2149del (p.Asp717ThrfsTer?) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.42544098G>A | CA290781219 | NAGLU | c.2092G>A (p.Asp698Asn) c.1430G>A (n.1430G>A) c.1261G>A (p.Asp421Asn) c.1093G>A (p.Asp365Asn) c.2149G>A (p.Asp717Asn) | ClinVar dbSNP |
17 | g.42544098G>C | CA399606137 | NAGLU | c.2092G>C (p.Asp698His) c.1430G>C (n.1430G>C) c.1261G>C (p.Asp421His) c.1093G>C (p.Asp365His) c.2149G>C (p.Asp717His) | |
17 | g.42544098G= | CA2260530610 | NAGLU | c.2092G= (p.Asp698=) c.1430G= (n.1430G=) c.1261G= (p.Asp421=) c.1093G= (p.Asp365=) c.2149G= (p.Asp717=) | |
17 | g.42544098G>T | CA399606138 | NAGLU | c.2092G>T (p.Asp698Tyr) c.1430G>T (n.1430G>T) c.1261G>T (p.Asp421Tyr) c.1093G>T (p.Asp365Tyr) c.2149G>T (p.Asp717Tyr) | |
17 | g.42544099A>C | CA399606139 | NAGLU | c.2093A>C (p.Asp698Ala) c.1431A>C (n.1431A>C) c.1262A>C (p.Asp421Ala) c.1094A>C (p.Asp365Ala) c.2150A>C (p.Asp717Ala) | |
17 | g.42544099A>G | CA399606140 | NAGLU | c.2093A>G (p.Asp698Gly) c.1431A>G (n.1431A>G) c.1262A>G (p.Asp421Gly) c.1094A>G (p.Asp365Gly) c.2150A>G (p.Asp717Gly) | |
17 | g.42544099A>T | CA399606141 | NAGLU | c.2093A>T (p.Asp698Val) c.1431A>T (n.1431A>T) c.1262A>T (p.Asp421Val) c.1094A>T (p.Asp365Val) c.2150A>T (p.Asp717Val) | |
17 | g.42544100C>A | CA399606142 | NAGLU | c.2094C>A (p.Asp698Glu) c.1432C>A (n.1432C>A) c.1263C>A (p.Asp421Glu) c.1095C>A (p.Asp365Glu) c.2151C>A (p.Asp717Glu) | |
17 | g.42544100C>G | CA399606143 | NAGLU | c.2094C>G (p.Asp698Glu) c.1432C>G (n.1432C>G) c.1263C>G (p.Asp421Glu) c.1095C>G (p.Asp365Glu) c.2151C>G (p.Asp717Glu) | |
17 | g.42544100C>T | CA500217345 | NAGLU | c.2094C>T (p.Asp698=) c.1432C>T (n.1432C>T) c.1263C>T (p.Asp421=) c.1095C>T (p.Asp365=) c.2151C>T (p.Asp717=) | |
17 | g.42544100_42544101delinsCA | CA2260530611 | NAGLU | c.2094_2095delinsCA (p.Asp698=) c.1432_1433delinsCA (n.1432_1433delinsCA) c.1263_1264delinsCA (p.Asp421=) c.1095_1096delinsCA (p.Asp365=) c.2151_2152delinsCA (p.Asp717=) | |
17 | g.42544101A>C | CA399606146 | NAGLU | c.2095A>C (p.Lys699Gln) c.1433A>C (n.1433A>C) c.1264A>C (p.Lys422Gln) c.1096A>C (p.Lys366Gln) c.2152A>C (p.Lys718Gln) | |
17 | g.42544101A>G | CA399606144 | NAGLU | c.2095A>G (p.Lys699Glu) c.1433A>G (n.1433A>G) c.1264A>G (p.Lys422Glu) c.1096A>G (p.Lys366Glu) c.2152A>G (p.Lys718Glu) | |
17 | g.42544101A>T | CA399606145 | NAGLU | c.2095A>T (p.Lys699Ter) c.1433A>T (n.1433A>T) c.1264A>T (p.Lys422Ter) c.1096A>T (p.Lys366Ter) c.2152A>T (p.Lys718Ter) | |
17 | g.42544105dup | CA645588252 | NAGLU | c.2099dup (p.Asn700LysfsTer?) c.1437dup (n.1437dup) c.1268dup (p.Asn423LysfsTer?) c.1100dup (p.Asn367LysfsTer?) c.2156dup (p.Asn719LysfsTer?) | COSMIC |
17 | g.42544105del | CA626218626 | NAGLU | c.2099del (p.Asn700MetfsTer?) c.1437del (n.1437del) c.1268del (p.Asn423MetfsTer?) c.1100del (p.Asn367MetfsTer?) c.2156del (p.Asn719MetfsTer?) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.42544102A>C | CA399606147 | NAGLU | c.2096A>C (p.Lys699Thr) c.1434A>C (n.1434A>C) c.1265A>C (p.Lys422Thr) c.1097A>C (p.Lys366Thr) c.2153A>C (p.Lys718Thr) | |
17 | g.42544102A>G | CA399606148 | NAGLU | c.2096A>G (p.Lys699Arg) c.1434A>G (n.1434A>G) c.1265A>G (p.Lys422Arg) c.1097A>G (p.Lys366Arg) c.2153A>G (p.Lys718Arg) | |
17 | g.42544102A>T | CA399606149 | NAGLU | c.2096A>T (p.Lys699Ile) c.1434A>T (n.1434A>T) c.1265A>T (p.Lys422Ile) c.1097A>T (p.Lys366Ile) c.2153A>T (p.Lys718Ile) | |
17 | g.42544103A>C | CA399606150 | NAGLU | c.2097A>C (p.Lys699Asn) c.1435A>C (n.1435A>C) c.1266A>C (p.Lys422Asn) c.1098A>C (p.Lys366Asn) c.2154A>C (p.Lys718Asn) | |
17 | g.42544103A>G | CA500217354 | NAGLU | c.2097A>G (p.Lys699=) c.1435A>G (n.1435A>G) c.1266A>G (p.Lys422=) c.1098A>G (p.Lys366=) c.2154A>G (p.Lys718=) | |
17 | g.42544103A>T | CA399606151 | NAGLU | c.2097A>T (p.Lys699Asn) c.1435A>T (n.1435A>T) c.1266A>T (p.Lys422Asn) c.1098A>T (p.Lys366Asn) c.2154A>T (p.Lys718Asn) | |
17 | g.42544104A>C | CA399606152 | NAGLU | c.2098A>C (p.Asn700His) c.1436A>C (n.1436A>C) c.1267A>C (p.Asn423His) c.1099A>C (p.Asn367His) c.2155A>C (p.Asn719His) | |
17 | g.42544104A>G | CA399606153 | NAGLU | c.2098A>G (p.Asn700Asp) c.1436A>G (n.1436A>G) c.1267A>G (p.Asn423Asp) c.1099A>G (p.Asn367Asp) c.2155A>G (p.Asn719Asp) | |
17 | g.42544104A>T | CA399606154 | NAGLU | c.2098A>T (p.Asn700Tyr) c.1436A>T (n.1436A>T) c.1267A>T (p.Asn423Tyr) c.1099A>T (p.Asn367Tyr) c.2155A>T (p.Asn719Tyr) | |
17 | g.42544105A= | CA2260530612 | NAGLU | c.2099A= (p.Asn700=) c.1437A= (n.1437A=) c.1268A= (p.Asn423=) c.1100A= (p.Asn367=) c.2156A= (p.Asn719=) | |
17 | g.42544105A>C | CA399606155 | NAGLU | c.2099A>C (p.Asn700Thr) c.1437A>C (n.1437A>C) c.1268A>C (p.Asn423Thr) c.1100A>C (p.Asn367Thr) c.2156A>C (p.Asn719Thr) | |
17 | g.42544105A>G | CA399606156 | NAGLU | c.2099A>G (p.Asn700Ser) c.1437A>G (n.1437A>G) c.1268A>G (p.Asn423Ser) c.1100A>G (p.Asn367Ser) c.2156A>G (p.Asn719Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42544105A>T | CA399606157 | NAGLU | c.2099A>T (p.Asn700Ile) c.1437A>T (n.1437A>T) c.1268A>T (p.Asn423Ile) c.1100A>T (p.Asn367Ile) c.2156A>T (p.Asn719Ile) | |
17 | g.42544106T>A | CA399606158 | NAGLU | c.2100T>A (p.Asn700Lys) c.1438T>A (n.1438T>A) c.1269T>A (p.Asn423Lys) c.1101T>A (p.Asn367Lys) c.2157T>A (p.Asn719Lys) | |
17 | g.42544106T>C | CA500217360 | NAGLU | c.2100T>C (p.Asn700=) c.1438T>C (n.1438T>C) c.1269T>C (p.Asn423=) c.1101T>C (p.Asn367=) c.2157T>C (p.Asn719=) | dbSNP gnomAD v4 |
17 | g.42544106T>G | CA399606159 | NAGLU | c.2100T>G (p.Asn700Lys) c.1438T>G (n.1438T>G) c.1269T>G (p.Asn423Lys) c.1101T>G (p.Asn367Lys) c.2157T>G (p.Asn719Lys) | |
17 | g.42544106T= | CA2260530613 | NAGLU | c.2100T= (p.Asn700=) c.1438T= (n.1438T=) c.1269T= (p.Asn423=) c.1101T= (p.Asn367=) c.2157T= (p.Asn719=) | |
17 | g.42544107_42544108dup | CA2637976284 | NAGLU | c.2101_2102dup (p.Phe702SerfsTer?) c.1439_1440dup (n.1439_1440dup) c.1270_1271dup (p.Phe425SerfsTer?) c.1102_1103dup (p.Phe369SerfsTer?) c.2158_2159dup (p.Phe721SerfsTer?) | gnomAD v4 |