| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.42543939C>A | CA399605530 | NAGLU | c.1933C>A (p.Gln645Lys) c.1271C>A (n.1271C>A) c.1102C>A (p.Gln368Lys) c.934C>A (p.Gln312Lys) c.1990C>A (p.Gln664Lys) | |
| 17 | g.42543939C= | CA2260530533 | NAGLU | c.1933C= (p.Gln645=) c.1271C= (n.1271C=) c.1102C= (p.Gln368=) c.934C= (p.Gln312=) c.1990C= (p.Gln664=) | |
| 17 | g.42543939C>G | CA399605532 | NAGLU | c.1933C>G (p.Gln645Glu) c.1271C>G (n.1271C>G) c.1102C>G (p.Gln368Glu) c.934C>G (p.Gln312Glu) c.1990C>G (p.Gln664Glu) | |
| 17 | g.42543939C>T | CA399605534 | NAGLU | c.1933C>T (p.Gln645Ter) c.1271C>T (n.1271C>T) c.1102C>T (p.Gln368Ter) c.934C>T (p.Gln312Ter) c.1990C>T (p.Gln664Ter) | dbSNP |
| 17 | g.42543940A= | CA2260530534 | NAGLU | c.1934A= (p.Gln645=) c.1272A= (n.1272A=) c.1103A= (p.Gln368=) c.935A= (p.Gln312=) c.1991A= (p.Gln664=) | |
| 17 | g.42543940A>C | CA8577124 | NAGLU | c.1934A>C (p.Gln645Pro) c.1272A>C (n.1272A>C) c.1103A>C (p.Gln368Pro) c.935A>C (p.Gln312Pro) c.1991A>C (p.Gln664Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.42543940A>G | CA399605537 | NAGLU | c.1934A>G (p.Gln645Arg) c.1272A>G (n.1272A>G) c.1103A>G (p.Gln368Arg) c.935A>G (p.Gln312Arg) c.1991A>G (p.Gln664Arg) | |
| 17 | g.42543940A>T | CA399605539 | NAGLU | c.1934A>T (p.Gln645Leu) c.1272A>T (n.1272A>T) c.1103A>T (p.Gln368Leu) c.935A>T (p.Gln312Leu) c.1991A>T (p.Gln664Leu) | gnomAD v4 |
| 17 | g.42543941G>A | CA500218632 | NAGLU | c.1935G>A (p.Gln645=) c.1273G>A (n.1273G>A) c.1104G>A (p.Gln368=) c.936G>A (p.Gln312=) c.1992G>A (p.Gln664=) | gnomAD v4 |
| 17 | g.42543941G>C | CA399605541 | NAGLU | c.1935G>C (p.Gln645His) c.1273G>C (n.1273G>C) c.1104G>C (p.Gln368His) c.936G>C (p.Gln312His) c.1992G>C (p.Gln664His) | dbSNP |
| 17 | g.42543941G= | CA2260530535 | NAGLU | c.1935G= (p.Gln645=) c.1273G= (n.1273G=) c.1104G= (p.Gln368=) c.936G= (p.Gln312=) c.1992G= (p.Gln664=) | |
| 17 | g.42543941G>T | CA399605543 | NAGLU | c.1935G>T (p.Gln645His) c.1273G>T (n.1273G>T) c.1104G>T (p.Gln368His) c.936G>T (p.Gln312His) c.1992G>T (p.Gln664His) | gnomAD v4 |
| 17 | g.42543942C>A | CA399605545 | NAGLU | c.1936C>A (p.Leu646Met) c.1274C>A (n.1274C>A) c.1105C>A (p.Leu369Met) c.937C>A (p.Leu313Met) c.1993C>A (p.Leu665Met) | |
| 17 | g.42543942C>G | CA399605546 | NAGLU | c.1936C>G (p.Leu646Val) c.1274C>G (n.1274C>G) c.1105C>G (p.Leu369Val) c.937C>G (p.Leu313Val) c.1993C>G (p.Leu665Val) | gnomAD v4 |
| 17 | g.42543942C>T | CA500218641 | NAGLU | c.1936C>T (p.Leu646=) c.1274C>T (n.1274C>T) c.1105C>T (p.Leu369=) c.937C>T (p.Leu313=) c.1993C>T (p.Leu665=) | |
| 17 | g.42543943T>A | CA399605549 | NAGLU | c.1937T>A (p.Leu646Gln) c.1275T>A (n.1275T>A) c.1106T>A (p.Leu369Gln) c.938T>A (p.Leu313Gln) c.1994T>A (p.Leu665Gln) | |
| 17 | g.42543943T>C | CA399605550 | NAGLU | c.1937T>C (p.Leu646Pro) c.1275T>C (n.1275T>C) c.1106T>C (p.Leu369Pro) c.938T>C (p.Leu313Pro) c.1994T>C (p.Leu665Pro) | |
| 17 | g.42543943T>G | CA399605551 | NAGLU | c.1937T>G (p.Leu646Arg) c.1275T>G (n.1275T>G) c.1106T>G (p.Leu369Arg) c.938T>G (p.Leu313Arg) c.1994T>G (p.Leu665Arg) | |
| 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 |