| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.42543949T>A | CA399605569 | NAGLU | c.1943T>A (p.Leu648Ter) c.1281T>A (n.1281T>A) c.1112T>A (p.Leu371Ter) c.944T>A (p.Leu315Ter) c.2000T>A (p.Leu667Ter) | |
| 17 | g.42543949T>C | CA399605571 | NAGLU | c.1943T>C (p.Leu648Ser) c.1281T>C (n.1281T>C) c.1112T>C (p.Leu371Ser) c.944T>C (p.Leu315Ser) c.2000T>C (p.Leu667Ser) | |
| 17 | g.42543949T>G | CA399605573 | NAGLU | c.1943T>G (p.Leu648Trp) c.1281T>G (n.1281T>G) c.1112T>G (p.Leu371Trp) c.944T>G (p.Leu315Trp) c.2000T>G (p.Leu667Trp) | |
| 17 | g.42543949T= | CA2260530539 | NAGLU | c.1943T= (p.Leu648=) c.1281T= (n.1281T=) c.1112T= (p.Leu371=) c.944T= (p.Leu315=) c.2000T= (p.Leu667=) | |
| 17 | g.42543950G>A | CA500218701 | NAGLU | c.1944G>A (p.Leu648=) c.1282G>A (n.1282G>A) c.1113G>A (p.Leu371=) c.945G>A (p.Leu315=) c.2001G>A (p.Leu667=) | gnomAD v4 |
| 17 | g.42543950G>C | CA399605575 | NAGLU | c.1944G>C (p.Leu648Phe) c.1282G>C (n.1282G>C) c.1113G>C (p.Leu371Phe) c.945G>C (p.Leu315Phe) c.2001G>C (p.Leu667Phe) | |
| 17 | g.42543950G>T | CA399605577 | NAGLU | c.1944G>T (p.Leu648Phe) c.1282G>T (n.1282G>T) c.1113G>T (p.Leu371Phe) c.945G>T (p.Leu315Phe) c.2001G>T (p.Leu667Phe) | |
| 17 | g.42543950dup | CA10588946 | NAGLU | c.1944dup (p.Trp649ValfsTer?) c.1282dup (n.1282dup) c.1113dup (p.Trp372ValfsTer?) c.945dup (p.Trp316ValfsTer?) c.2001dup (p.Trp668ValfsTer?) | ClinVar dbSNP |
| 17 | g.42543951_42543953del | CA2576276094 | NAGLU | c.1945_1947del (p.Trp649del) c.1283_1285del (n.1283_1285del) c.1114_1116del (p.Trp372del) c.946_948del (p.Trp316del) c.2002_2004del (p.Trp668del) | |
| 17 | g.42543951T>A | CA399605579 | NAGLU | c.1945T>A (p.Trp649Arg) c.1283T>A (n.1283T>A) c.1114T>A (p.Trp372Arg) c.946T>A (p.Trp316Arg) c.2002T>A (p.Trp668Arg) | |
| 17 | g.42543951T>C | CA399605580 | NAGLU | c.1945T>C (p.Trp649Arg) c.1283T>C (n.1283T>C) c.1114T>C (p.Trp372Arg) c.946T>C (p.Trp316Arg) c.2002T>C (p.Trp668Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42543951T>G | CA399605581 | NAGLU | c.1945T>G (p.Trp649Gly) c.1283T>G (n.1283T>G) c.1114T>G (p.Trp372Gly) c.946T>G (p.Trp316Gly) c.2002T>G (p.Trp668Gly) | gnomAD v4 |
| 17 | g.42543951T= | CA2260530540 | NAGLU | c.1945T= (p.Trp649=) c.1283T= (n.1283T=) c.1114T= (p.Trp372=) c.946T= (p.Trp316=) c.2002T= (p.Trp668=) | |
| 17 | g.42543951dup | CA2637976274 | NAGLU | c.1945dup (p.Trp649LeufsTer?) c.1283dup (n.1283dup) c.1114dup (p.Trp372LeufsTer?) c.946dup (p.Trp316LeufsTer?) c.2002dup (p.Trp668LeufsTer?) | gnomAD v4 |
| 17 | g.42543952G>A | CA399605584 | NAGLU | c.1946G>A (p.Trp649Ter) c.1284G>A (n.1284G>A) c.1115G>A (p.Trp372Ter) c.947G>A (p.Trp316Ter) c.2003G>A (p.Trp668Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.42543952G>C | CA8577125 | NAGLU | c.1946G>C (p.Trp649Ser) c.1284G>C (n.1284G>C) c.1115G>C (p.Trp372Ser) c.947G>C (p.Trp316Ser) c.2003G>C (p.Trp668Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.42543952G= | CA2260530541 | NAGLU | c.1946G= (p.Trp649=) c.1284G= (n.1284G=) c.1115G= (p.Trp372=) c.947G= (p.Trp316=) c.2003G= (p.Trp668=) | |
| 17 | g.42543952G>T | CA170085 | NAGLU | c.1946G>T (p.Trp649Leu) c.1284G>T (n.1284G>T) c.1115G>T (p.Trp372Leu) c.947G>T (p.Trp316Leu) c.2003G>T (p.Trp668Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.42543953G>A | CA399605587 | NAGLU | c.1947G>A (p.Trp649Ter) c.1285G>A (n.1285G>A) c.1116G>A (p.Trp372Ter) c.948G>A (p.Trp316Ter) c.2004G>A (p.Trp668Ter) | |
| 17 | g.42543953G>C | CA399605589 | NAGLU | c.1947G>C (p.Trp649Cys) c.1285G>C (n.1285G>C) c.1116G>C (p.Trp372Cys) c.948G>C (p.Trp316Cys) c.2004G>C (p.Trp668Cys) | gnomAD v4 |
| 17 | g.42543953G>T | CA399605590 | NAGLU | c.1947G>T (p.Trp649Cys) c.1285G>T (n.1285G>T) c.1116G>T (p.Trp372Cys) c.948G>T (p.Trp316Cys) c.2004G>T (p.Trp668Cys) | |
| 17 | g.42543954G>A | CA399605591 | NAGLU | c.1948G>A (p.Gly650Arg) c.1286G>A (n.1286G>A) c.1117G>A (p.Gly373Arg) c.949G>A (p.Gly317Arg) c.2005G>A (p.Gly669Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42543954G>C | CA399605592 | NAGLU | c.1948G>C (p.Gly650Arg) c.1286G>C (n.1286G>C) c.1117G>C (p.Gly373Arg) c.949G>C (p.Gly317Arg) c.2005G>C (p.Gly669Arg) | |
| 17 | g.42543954G= | CA2260530542 | NAGLU | c.1948G= (p.Gly650=) c.1286G= (n.1286G=) c.1117G= (p.Gly373=) c.949G= (p.Gly317=) c.2005G= (p.Gly669=) | |
| 17 | g.42543954G>T | CA399605594 | NAGLU | c.1948G>T (p.Gly650Trp) c.1286G>T (n.1286G>T) c.1117G>T (p.Gly373Trp) c.949G>T (p.Gly317Trp) c.2005G>T (p.Gly669Trp) | |
| 17 | g.42543956_42543964del | CA2637976277 | NAGLU | c.1950_1958del (p.Pro651_Gly653del) c.1288_1296del (n.1288_1296del) c.1119_1127del (p.Pro374_Gly376del) c.951_959del (p.Pro318_Gly320del) c.2007_2015del (p.Pro670_Gly672del) | gnomAD v4 |
| 17 | g.42543955G>A | CA170087 | NAGLU | c.1949G>A (p.Gly650Glu) c.1287G>A (n.1287G>A) c.1118G>A (p.Gly373Glu) c.950G>A (p.Gly317Glu) c.2006G>A (p.Gly669Glu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42543955G>C | CA399605596 | NAGLU | c.1949G>C (p.Gly650Ala) c.1287G>C (n.1287G>C) c.1118G>C (p.Gly373Ala) c.950G>C (p.Gly317Ala) c.2006G>C (p.Gly669Ala) | |
| 17 | g.42543955G= | CA2260530543 | NAGLU | c.1949G= (p.Gly650=) c.1287G= (n.1287G=) c.1118G= (p.Gly373=) c.950G= (p.Gly317=) c.2006G= (p.Gly669=) | |
| 17 | g.42543955G>T | CA399605598 | NAGLU | c.1949G>T (p.Gly650Val) c.1287G>T (n.1287G>T) c.1118G>T (p.Gly373Val) c.950G>T (p.Gly317Val) c.2006G>T (p.Gly669Val) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.42543956G>A | CA500218758 | NAGLU | c.1950G>A (p.Gly650=) c.1288G>A (n.1288G>A) c.1119G>A (p.Gly373=) c.951G>A (p.Gly317=) c.2007G>A (p.Gly669=) | ClinVar dbSNP gnomAD v4 |
| 17 | g.42543956G>C | CA500218763 | NAGLU | c.1950G>C (p.Gly650=) c.1288G>C (n.1288G>C) c.1119G>C (p.Gly373=) c.951G>C (p.Gly317=) c.2007G>C (p.Gly669=) | |
| 17 | g.42543956G= | CA2260530544 | NAGLU | c.1950G= (p.Gly650=) c.1288G= (n.1288G=) c.1119G= (p.Gly373=) c.951G= (p.Gly317=) c.2007G= (p.Gly669=) | |
| 17 | g.42543956G>T | CA500218760 | NAGLU | c.1950G>T (p.Gly650=) c.1288G>T (n.1288G>T) c.1119G>T (p.Gly373=) c.951G>T (p.Gly317=) c.2007G>T (p.Gly669=) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.42543957_42543960dup | CA2695225869 | NAGLU | c.1951_1954dup (p.Glu652AlafsTer?) c.1289_1292dup (n.1289_1292dup) c.1120_1123dup (p.Glu375AlafsTer?) c.952_955dup (p.Glu319AlafsTer?) c.2008_2011dup (p.Glu671AlafsTer?) | |
| 17 | g.42543957C>A | CA399605600 | NAGLU | c.1951C>A (p.Pro651Thr) c.1289C>A (n.1289C>A) c.1120C>A (p.Pro374Thr) c.952C>A (p.Pro318Thr) c.2008C>A (p.Pro670Thr) | |
| 17 | g.42543957C>G | CA399605602 | NAGLU | c.1951C>G (p.Pro651Ala) c.1289C>G (n.1289C>G) c.1120C>G (p.Pro374Ala) c.952C>G (p.Pro318Ala) c.2008C>G (p.Pro670Ala) | |
| 17 | g.42543957C>T | CA399605603 | NAGLU | c.1951C>T (p.Pro651Ser) c.1289C>T (n.1289C>T) c.1120C>T (p.Pro374Ser) c.952C>T (p.Pro318Ser) c.2008C>T (p.Pro670Ser) | gnomAD v4 |
| 17 | g.42543958C>A | CA399605607 | NAGLU | c.1952C>A (p.Pro651Gln) c.1290C>A (n.1290C>A) c.1121C>A (p.Pro374Gln) c.953C>A (p.Pro318Gln) c.2009C>A (p.Pro670Gln) | |
| 17 | g.42543958C>G | CA399605606 | NAGLU | c.1952C>G (p.Pro651Arg) c.1290C>G (n.1290C>G) c.1121C>G (p.Pro374Arg) c.953C>G (p.Pro318Arg) c.2009C>G (p.Pro670Arg) | |
| 17 | g.42543958C>T | CA399605604 | NAGLU | c.1952C>T (p.Pro651Leu) c.1290C>T (n.1290C>T) c.1121C>T (p.Pro374Leu) c.953C>T (p.Pro318Leu) c.2009C>T (p.Pro670Leu) | gnomAD v4 |
| 17 | g.42543959A>C | CA500218782 | NAGLU | c.1953A>C (p.Pro651=) c.1291A>C (n.1291A>C) c.1122A>C (p.Pro374=) c.954A>C (p.Pro318=) c.2010A>C (p.Pro670=) | |
| 17 | g.42543959A>G | CA500218779 | NAGLU | c.1953A>G (p.Pro651=) c.1291A>G (n.1291A>G) c.1122A>G (p.Pro374=) c.954A>G (p.Pro318=) c.2010A>G (p.Pro670=) | |
| 17 | g.42543959A>T | CA500218783 | NAGLU | c.1953A>T (p.Pro651=) c.1291A>T (n.1291A>T) c.1122A>T (p.Pro374=) c.954A>T (p.Pro318=) c.2010A>T (p.Pro670=) | |
| 17 | g.42543960G>A | CA399605609 | NAGLU | c.1954G>A (p.Glu652Lys) c.1292G>A (n.1292G>A) c.1123G>A (p.Glu375Lys) c.955G>A (p.Glu319Lys) c.2011G>A (p.Glu671Lys) | dbSNP |
| 17 | g.42543960G>C | CA399605611 | NAGLU | c.1954G>C (p.Glu652Gln) c.1292G>C (n.1292G>C) c.1123G>C (p.Glu375Gln) c.955G>C (p.Glu319Gln) c.2011G>C (p.Glu671Gln) | gnomAD v4 |
| 17 | g.42543960G= | CA2260530545 | NAGLU | c.1954G= (p.Glu652=) c.1292G= (n.1292G=) c.1123G= (p.Glu375=) c.955G= (p.Glu319=) c.2011G= (p.Glu671=) | |
| 17 | g.42543960G>T | CA399605613 | NAGLU | c.1954G>T (p.Glu652Ter) c.1292G>T (n.1292G>T) c.1123G>T (p.Glu375Ter) c.955G>T (p.Glu319Ter) c.2011G>T (p.Glu671Ter) | |
| 17 | g.42543961A>C | CA399605615 | NAGLU | c.1955A>C (p.Glu652Ala) c.1293A>C (n.1293A>C) c.1124A>C (p.Glu375Ala) c.956A>C (p.Glu319Ala) c.2012A>C (p.Glu671Ala) | |
| 17 | g.42543961A>G | CA399605617 | NAGLU | c.1955A>G (p.Glu652Gly) c.1293A>G (n.1293A>G) c.1124A>G (p.Glu375Gly) c.956A>G (p.Glu319Gly) c.2012A>G (p.Glu671Gly) | gnomAD v4 |