| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.42543934_42543938dup | CA2695225868 | NAGLU | c.1928_1932dup (p.Gln645AlafsTer4) c.1266_1270dup (n.1266_1270dup) c.1097_1101dup (p.Gln368AlafsTer4) c.929_933dup (p.Gln312AlafsTer4) c.1985_1989dup (p.Gln664AlafsTer4) | |
| 17 | g.42543934G>A | CA250027 | NAGLU | c.1928G>A (p.Arg643His) c.1266G>A (n.1266G>A) c.1097G>A (p.Arg366His) c.929G>A (p.Arg310His) c.1985G>A (p.Arg662His) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.42543934G>C | CA399605512 | NAGLU | c.1928G>C (p.Arg643Pro) c.1266G>C (n.1266G>C) c.1097G>C (p.Arg366Pro) c.929G>C (p.Arg310Pro) c.1985G>C (p.Arg662Pro) | |
| 17 | g.42543934G= | CA2260530530 | NAGLU | c.1928G= (p.Arg643=) c.1266G= (n.1266G=) c.1097G= (p.Arg366=) c.929G= (p.Arg310=) c.1985G= (p.Arg662=) | |
| 17 | g.42543934G>T | CA399605514 | NAGLU | c.1928G>T (p.Arg643Leu) c.1266G>T (n.1266G>T) c.1097G>T (p.Arg366Leu) c.929G>T (p.Arg310Leu) c.1985G>T (p.Arg662Leu) | |
| 17 | g.42543935C>A | CA500218593 | NAGLU | c.1929C>A (p.Arg643=) c.1267C>A (n.1267C>A) c.1098C>A (p.Arg366=) c.930C>A (p.Arg310=) c.1986C>A (p.Arg662=) | ClinVar gnomAD v4 |
| 17 | g.42543935C>G | CA500218590 | NAGLU | c.1929C>G (p.Arg643=) c.1267C>G (n.1267C>G) c.1098C>G (p.Arg366=) c.930C>G (p.Arg310=) c.1986C>G (p.Arg662=) | |
| 17 | g.42543935C>T | CA500218588 | NAGLU | c.1929C>T (p.Arg643=) c.1267C>T (n.1267C>T) c.1098C>T (p.Arg366=) c.930C>T (p.Arg310=) c.1986C>T (p.Arg662=) | |
| 17 | g.42543936T>A | CA399605517 | NAGLU | c.1930T>A (p.Tyr644Asn) c.1268T>A (n.1268T>A) c.1099T>A (p.Tyr367Asn) c.931T>A (p.Tyr311Asn) c.1987T>A (p.Tyr663Asn) | |
| 17 | g.42543936T>C | CA399605518 | NAGLU | c.1930T>C (p.Tyr644His) c.1268T>C (n.1268T>C) c.1099T>C (p.Tyr367His) c.931T>C (p.Tyr311His) c.1987T>C (p.Tyr663His) | |
| 17 | g.42543936T>G | CA399605519 | NAGLU | c.1930T>G (p.Tyr644Asp) c.1268T>G (n.1268T>G) c.1099T>G (p.Tyr367Asp) c.931T>G (p.Tyr311Asp) c.1987T>G (p.Tyr663Asp) | ClinVar dbSNP |
| 17 | g.42543937A= | CA2260530531 | NAGLU | c.1931A= (p.Tyr644=) c.1269A= (n.1269A=) c.1100A= (p.Tyr367=) c.932A= (p.Tyr311=) c.1988A= (p.Tyr663=) | |
| 17 | g.42543937A>C | CA399605522 | NAGLU | c.1931A>C (p.Tyr644Ser) c.1269A>C (n.1269A>C) c.1100A>C (p.Tyr367Ser) c.932A>C (p.Tyr311Ser) c.1988A>C (p.Tyr663Ser) | |
| 17 | g.42543937A>G | CA399605524 | NAGLU | c.1931A>G (p.Tyr644Cys) c.1269A>G (n.1269A>G) c.1100A>G (p.Tyr367Cys) c.932A>G (p.Tyr311Cys) c.1988A>G (p.Tyr663Cys) | dbSNP gnomAD v2 |
| 17 | g.42543937A>T | CA399605526 | NAGLU | c.1931A>T (p.Tyr644Phe) c.1269A>T (n.1269A>T) c.1100A>T (p.Tyr367Phe) c.932A>T (p.Tyr311Phe) c.1988A>T (p.Tyr663Phe) | |
| 17 | g.42543938C>A | CA399605529 | NAGLU | c.1932C>A (p.Tyr644Ter) c.1270C>A (n.1270C>A) c.1101C>A (p.Tyr367Ter) c.933C>A (p.Tyr311Ter) c.1989C>A (p.Tyr663Ter) | dbSNP |
| 17 | g.42543938C= | CA2260530532 | NAGLU | c.1932C= (p.Tyr644=) c.1270C= (n.1270C=) c.1101C= (p.Tyr367=) c.933C= (p.Tyr311=) c.1989C= (p.Tyr663=) | |
| 17 | g.42543938C>G | CA399605528 | NAGLU | c.1932C>G (p.Tyr644Ter) c.1270C>G (n.1270C>G) c.1101C>G (p.Tyr367Ter) c.933C>G (p.Tyr311Ter) c.1989C>G (p.Tyr663Ter) | ClinVar dbSNP |
| 17 | g.42543938C>T | CA500218614 | NAGLU | c.1932C>T (p.Tyr644=) c.1270C>T (n.1270C>T) c.1101C>T (p.Tyr367=) c.933C>T (p.Tyr311=) c.1989C>T (p.Tyr663=) | gnomAD v4 |
| 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=) |