| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.42543944G>A | CA500218652 | NAGLU | c.1938G>A (p.Leu646=) c.1276G>A (n.1276G>A) c.1107G>A (p.Leu369=) c.939G>A (p.Leu313=) c.1995G>A (p.Leu665=) | ClinVar dbSNP |
| 17 | g.42543944G>C | CA500218657 | NAGLU | c.1938G>C (p.Leu646=) c.1276G>C (n.1276G>C) c.1107G>C (p.Leu369=) c.939G>C (p.Leu313=) c.1995G>C (p.Leu665=) | |
| 17 | g.42543944G= | CA2260530536 | NAGLU | c.1938G= (p.Leu646=) c.1276G= (n.1276G=) c.1107G= (p.Leu369=) c.939G= (p.Leu313=) c.1995G= (p.Leu665=) | |
| 17 | g.42543944G>T | CA500218655 | NAGLU | c.1938G>T (p.Leu646=) c.1276G>T (n.1276G>T) c.1107G>T (p.Leu369=) c.939G>T (p.Leu313=) c.1995G>T (p.Leu665=) | |
| 17 | g.42543945A>C | CA399605555 | NAGLU | c.1939A>C (p.Thr647Pro) c.1277A>C (n.1277A>C) c.1108A>C (p.Thr370Pro) c.940A>C (p.Thr314Pro) c.1996A>C (p.Thr666Pro) | |
| 17 | g.42543945A>G | CA399605557 | NAGLU | c.1939A>G (p.Thr647Ala) c.1277A>G (n.1277A>G) c.1108A>G (p.Thr370Ala) c.940A>G (p.Thr314Ala) c.1996A>G (p.Thr666Ala) | |
| 17 | g.42543945A>T | CA399605553 | NAGLU | c.1939A>T (p.Thr647Ser) c.1277A>T (n.1277A>T) c.1108A>T (p.Thr370Ser) c.940A>T (p.Thr314Ser) c.1996A>T (p.Thr666Ser) | |
| 17 | g.42543946C>A | CA399605563 | NAGLU | c.1940C>A (p.Thr647Asn) c.1278C>A (n.1278C>A) c.1109C>A (p.Thr370Asn) c.941C>A (p.Thr314Asn) c.1997C>A (p.Thr666Asn) | |
| 17 | g.42543946C= | CA2260530537 | NAGLU | c.1940C= (p.Thr647=) c.1278C= (n.1278C=) c.1109C= (p.Thr370=) c.941C= (p.Thr314=) c.1997C= (p.Thr666=) | |
| 17 | g.42543946C>G | CA399605559 | NAGLU | c.1940C>G (p.Thr647Ser) c.1278C>G (n.1278C>G) c.1109C>G (p.Thr370Ser) c.941C>G (p.Thr314Ser) c.1997C>G (p.Thr666Ser) | gnomAD v4 |
| 17 | g.42543946C>T | CA399605561 | NAGLU | c.1940C>T (p.Thr647Ile) c.1278C>T (n.1278C>T) c.1109C>T (p.Thr370Ile) c.941C>T (p.Thr314Ile) c.1997C>T (p.Thr666Ile) | ClinVar dbSNP gnomAD v2 |
| 17 | g.42543947C>A | CA500218685 | NAGLU | c.1941C>A (p.Thr647=) c.1279C>A (n.1279C>A) c.1110C>A (p.Thr370=) c.942C>A (p.Thr314=) c.1998C>A (p.Thr666=) | ClinVar dbSNP gnomAD v4 |
| 17 | g.42543947C= | CA2260530538 | NAGLU | c.1941C= (p.Thr647=) c.1279C= (n.1279C=) c.1110C= (p.Thr370=) c.942C= (p.Thr314=) c.1998C= (p.Thr666=) | |
| 17 | g.42543947C>G | CA500218680 | NAGLU | c.1941C>G (p.Thr647=) c.1279C>G (n.1279C>G) c.1110C>G (p.Thr370=) c.942C>G (p.Thr314=) c.1998C>G (p.Thr666=) | |
| 17 | g.42543947C>T | CA500218682 | NAGLU | c.1941C>T (p.Thr647=) c.1279C>T (n.1279C>T) c.1110C>T (p.Thr370=) c.942C>T (p.Thr314=) c.1998C>T (p.Thr666=) | |
| 17 | g.42543948T>A | CA399605565 | NAGLU | c.1942T>A (p.Leu648Met) c.1280T>A (n.1280T>A) c.1111T>A (p.Leu371Met) c.943T>A (p.Leu315Met) c.1999T>A (p.Leu667Met) | |
| 17 | g.42543948T>C | CA500218693 | NAGLU | c.1942T>C (p.Leu648=) c.1280T>C (n.1280T>C) c.1111T>C (p.Leu371=) c.943T>C (p.Leu315=) c.1999T>C (p.Leu667=) | ClinVar gnomAD v4 |
| 17 | g.42543948T>G | CA399605567 | NAGLU | c.1942T>G (p.Leu648Val) c.1280T>G (n.1280T>G) c.1111T>G (p.Leu371Val) c.943T>G (p.Leu315Val) c.1999T>G (p.Leu667Val) | gnomAD v4 |
| 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=) |