Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.42543934G>ACA250027NAGLUc.1928G>A (p.Arg643His)
c.1097G>A (p.Arg366His)
c.929G>A (p.Arg310His)
c.1985G>A (p.Arg662His)
c.1928G>A
n.1266G>A (p.=)
ClinVar dbSNP gnomAD
17g.42543934G>CCA399605512NAGLUc.1928G>C (p.Arg643Pro)
c.1097G>C (p.Arg366Pro)
c.929G>C (p.Arg310Pro)
c.1985G>C (p.Arg662Pro)
c.1928G>C
n.1266G>C (p.=)
17g.42543934G>TCA399605514NAGLUc.1928G>T (p.Arg643Leu)
c.1097G>T (p.Arg366Leu)
c.929G>T (p.Arg310Leu)
c.1985G>T (p.Arg662Leu)
c.1928G>T
n.1266G>T (p.=)
17g.42543935C>ACA500218593NAGLUc.1929C>A (p.Arg643=)
c.1098C>A (p.Arg366=)
c.930C>A (p.Arg310=)
c.1986C>A (p.Arg662=)
c.1929C>A
n.1267C>A (p.=)
17g.42543935C>GCA500218590NAGLUc.1929C>G (p.Arg643=)
c.1098C>G (p.Arg366=)
c.930C>G (p.Arg310=)
c.1986C>G (p.Arg662=)
c.1929C>G
n.1267C>G (p.=)
17g.42543935C>TCA500218588NAGLUc.1929C>T (p.Arg643=)
c.1098C>T (p.Arg366=)
c.930C>T (p.Arg310=)
c.1986C>T (p.Arg662=)
c.1929C>T
n.1267C>T (p.=)
17g.42543936T>ACA399605517NAGLUc.1930T>A (p.Tyr644Asn)
c.1099T>A (p.Tyr367Asn)
c.931T>A (p.Tyr311Asn)
c.1987T>A (p.Tyr663Asn)
c.1930T>A
n.1268T>A (p.=)
17g.42543936T>CCA399605518NAGLUc.1930T>C (p.Tyr644His)
c.1099T>C (p.Tyr367His)
c.931T>C (p.Tyr311His)
c.1987T>C (p.Tyr663His)
c.1930T>C
n.1268T>C (p.=)
17g.42543936T>GCA399605519NAGLUc.1930T>G (p.Tyr644Asp)
c.1099T>G (p.Tyr367Asp)
c.931T>G (p.Tyr311Asp)
c.1987T>G (p.Tyr663Asp)
c.1930T>G
n.1268T>G (p.=)
17g.42543937A>CCA399605522NAGLUc.1931A>C (p.Tyr644Ser)
c.1100A>C (p.Tyr367Ser)
c.932A>C (p.Tyr311Ser)
c.1988A>C (p.Tyr663Ser)
c.1931A>C
n.1269A>C (p.=)
17g.42543937A>GCA399605524NAGLUc.1931A>G (p.Tyr644Cys)
c.1100A>G (p.Tyr367Cys)
c.932A>G (p.Tyr311Cys)
c.1988A>G (p.Tyr663Cys)
c.1931A>G
n.1269A>G (p.=)
gnomAD
17g.42543937A>TCA399605526NAGLUc.1931A>T (p.Tyr644Phe)
c.1100A>T (p.Tyr367Phe)
c.932A>T (p.Tyr311Phe)
c.1988A>T (p.Tyr663Phe)
c.1931A>T
n.1269A>T (p.=)
17g.42543938C>ACA399605529NAGLUc.1932C>A (p.Tyr644Ter)
c.1101C>A (p.Tyr367Ter)
c.933C>A (p.Tyr311Ter)
c.1989C>A (p.Tyr663Ter)
c.1932C>A
n.1270C>A (p.=)
17g.42543938C>GCA399605528NAGLUc.1932C>G (p.Tyr644Ter)
c.1101C>G (p.Tyr367Ter)
c.933C>G (p.Tyr311Ter)
c.1989C>G (p.Tyr663Ter)
c.1932C>G
n.1270C>G (p.=)
ClinVar
17g.42543938C>TCA500218614NAGLUc.1932C>T (p.Tyr644=)
c.1101C>T (p.Tyr367=)
c.933C>T (p.Tyr311=)
c.1989C>T (p.Tyr663=)
c.1932C>T
n.1270C>T (p.=)
17g.42543939C>ACA399605530NAGLUc.1933C>A (p.Gln645Lys)
c.1102C>A (p.Gln368Lys)
c.934C>A (p.Gln312Lys)
c.1990C>A (p.Gln664Lys)
c.1933C>A
n.1271C>A (p.=)
17g.42543939C>GCA399605532NAGLUc.1933C>G (p.Gln645Glu)
c.1102C>G (p.Gln368Glu)
c.934C>G (p.Gln312Glu)
c.1990C>G (p.Gln664Glu)
c.1933C>G
n.1271C>G (p.=)
17g.42543939C>TCA399605534NAGLUc.1933C>T (p.Gln645Ter)
c.1102C>T (p.Gln368Ter)
c.934C>T (p.Gln312Ter)
c.1990C>T (p.Gln664Ter)
c.1933C>T
n.1271C>T (p.=)
17g.42543940A>CCA8577124NAGLUc.1934A>C (p.Gln645Pro)
c.1103A>C (p.Gln368Pro)
c.935A>C (p.Gln312Pro)
c.1991A>C (p.Gln664Pro)
c.1934A>C
n.1272A>C (p.=)
dbSNP ExAC gnomAD
17g.42543940A>GCA399605537NAGLUc.1934A>G (p.Gln645Arg)
c.1103A>G (p.Gln368Arg)
c.935A>G (p.Gln312Arg)
c.1991A>G (p.Gln664Arg)
c.1934A>G
n.1272A>G (p.=)
17g.42543940A>TCA399605539NAGLUc.1934A>T (p.Gln645Leu)
c.1103A>T (p.Gln368Leu)
c.935A>T (p.Gln312Leu)
c.1991A>T (p.Gln664Leu)
c.1934A>T
n.1272A>T (p.=)
17g.42543941G>ACA500218632NAGLUc.1935G>A (p.Gln645=)
c.1104G>A (p.Gln368=)
c.936G>A (p.Gln312=)
c.1992G>A (p.Gln664=)
c.1935G>A
n.1273G>A (p.=)
17g.42543941G>CCA399605541NAGLUc.1935G>C (p.Gln645His)
c.1104G>C (p.Gln368His)
c.936G>C (p.Gln312His)
c.1992G>C (p.Gln664His)
c.1935G>C
n.1273G>C (p.=)
17g.42543941G>TCA399605543NAGLUc.1935G>T (p.Gln645His)
c.1104G>T (p.Gln368His)
c.936G>T (p.Gln312His)
c.1992G>T (p.Gln664His)
c.1935G>T
n.1273G>T (p.=)
17g.42543942C>ACA399605545NAGLUc.1936C>A (p.Leu646Met)
c.1105C>A (p.Leu369Met)
c.937C>A (p.Leu313Met)
c.1993C>A (p.Leu665Met)
c.1936C>A
n.1274C>A (p.=)
17g.42543942C>GCA399605546NAGLUc.1936C>G (p.Leu646Val)
c.1105C>G (p.Leu369Val)
c.937C>G (p.Leu313Val)
c.1993C>G (p.Leu665Val)
c.1936C>G
n.1274C>G (p.=)
17g.42543942C>TCA500218641NAGLUc.1936C>T (p.Leu646=)
c.1105C>T (p.Leu369=)
c.937C>T (p.Leu313=)
c.1993C>T (p.Leu665=)
c.1936C>T
n.1274C>T (p.=)
17g.42543943T>ACA399605549NAGLUc.1937T>A (p.Leu646Gln)
c.1106T>A (p.Leu369Gln)
c.938T>A (p.Leu313Gln)
c.1994T>A (p.Leu665Gln)
c.1937T>A
n.1275T>A (p.=)
17g.42543943T>CCA399605550NAGLUc.1937T>C (p.Leu646Pro)
c.1106T>C (p.Leu369Pro)
c.938T>C (p.Leu313Pro)
c.1994T>C (p.Leu665Pro)
c.1937T>C
n.1275T>C (p.=)
17g.42543943T>GCA399605551NAGLUc.1937T>G (p.Leu646Arg)
c.1106T>G (p.Leu369Arg)
c.938T>G (p.Leu313Arg)
c.1994T>G (p.Leu665Arg)
c.1937T>G
n.1275T>G (p.=)
17g.42543944G>ACA500218652NAGLUc.1938G>A (p.Leu646=)
c.1107G>A (p.Leu369=)
c.939G>A (p.Leu313=)
c.1995G>A (p.Leu665=)
c.1938G>A
n.1276G>A (p.=)
17g.42543944G>CCA500218657NAGLUc.1938G>C (p.Leu646=)
c.1107G>C (p.Leu369=)
c.939G>C (p.Leu313=)
c.1995G>C (p.Leu665=)
c.1938G>C
n.1276G>C (p.=)
17g.42543944G>TCA500218655NAGLUc.1938G>T (p.Leu646=)
c.1107G>T (p.Leu369=)
c.939G>T (p.Leu313=)
c.1995G>T (p.Leu665=)
c.1938G>T
n.1276G>T (p.=)
17g.42543945A>CCA399605555NAGLUc.1939A>C (p.Thr647Pro)
c.1108A>C (p.Thr370Pro)
c.940A>C (p.Thr314Pro)
c.1996A>C (p.Thr666Pro)
c.1939A>C
n.1277A>C (p.=)
17g.42543945A>GCA399605557NAGLUc.1939A>G (p.Thr647Ala)
c.1108A>G (p.Thr370Ala)
c.940A>G (p.Thr314Ala)
c.1996A>G (p.Thr666Ala)
c.1939A>G
n.1277A>G (p.=)
17g.42543945A>TCA399605553NAGLUc.1939A>T (p.Thr647Ser)
c.1108A>T (p.Thr370Ser)
c.940A>T (p.Thr314Ser)
c.1996A>T (p.Thr666Ser)
c.1939A>T
n.1277A>T (p.=)
17g.42543946C>ACA399605563NAGLUc.1940C>A (p.Thr647Asn)
c.1109C>A (p.Thr370Asn)
c.941C>A (p.Thr314Asn)
c.1997C>A (p.Thr666Asn)
c.1940C>A
n.1278C>A (p.=)
17g.42543946C>GCA399605559NAGLUc.1940C>G (p.Thr647Ser)
c.1109C>G (p.Thr370Ser)
c.941C>G (p.Thr314Ser)
c.1997C>G (p.Thr666Ser)
c.1940C>G
n.1278C>G (p.=)
17g.42543946C>TCA399605561NAGLUc.1940C>T (p.Thr647Ile)
c.1109C>T (p.Thr370Ile)
c.941C>T (p.Thr314Ile)
c.1997C>T (p.Thr666Ile)
c.1940C>T
n.1278C>T (p.=)
gnomAD
17g.42543947C>ACA500218685NAGLUc.1941C>A (p.Thr647=)
c.1110C>A (p.Thr370=)
c.942C>A (p.Thr314=)
c.1998C>A (p.Thr666=)
c.1941C>A
n.1279C>A (p.=)
17g.42543947C>GCA500218680NAGLUc.1941C>G (p.Thr647=)
c.1110C>G (p.Thr370=)
c.942C>G (p.Thr314=)
c.1998C>G (p.Thr666=)
c.1941C>G
n.1279C>G (p.=)
17g.42543947C>TCA500218682NAGLUc.1941C>T (p.Thr647=)
c.1110C>T (p.Thr370=)
c.942C>T (p.Thr314=)
c.1998C>T (p.Thr666=)
c.1941C>T
n.1279C>T (p.=)
17g.42543948T>ACA399605565NAGLUc.1942T>A (p.Leu648Met)
c.1111T>A (p.Leu371Met)
c.943T>A (p.Leu315Met)
c.1999T>A (p.Leu667Met)
c.1942T>A
n.1280T>A (p.=)
17g.42543948T>CCA500218693NAGLUc.1942T>C (p.Leu648=)
c.1111T>C (p.Leu371=)
c.943T>C (p.Leu315=)
c.1999T>C (p.Leu667=)
c.1942T>C
n.1280T>C (p.=)
17g.42543948T>GCA399605567NAGLUc.1942T>G (p.Leu648Val)
c.1111T>G (p.Leu371Val)
c.943T>G (p.Leu315Val)
c.1999T>G (p.Leu667Val)
c.1942T>G
n.1280T>G (p.=)
17g.42543949T>ACA399605569NAGLUc.1943T>A (p.Leu648Ter)
c.1112T>A (p.Leu371Ter)
c.944T>A (p.Leu315Ter)
c.2000T>A (p.Leu667Ter)
c.1943T>A
n.1281T>A (p.=)
17g.42543949T>CCA399605571NAGLUc.1943T>C (p.Leu648Ser)
c.1112T>C (p.Leu371Ser)
c.944T>C (p.Leu315Ser)
c.2000T>C (p.Leu667Ser)
c.1943T>C
n.1281T>C (p.=)
17g.42543949T>GCA399605573NAGLUc.1943T>G (p.Leu648Trp)
c.1112T>G (p.Leu371Trp)
c.944T>G (p.Leu315Trp)
c.2000T>G (p.Leu667Trp)
c.1943T>G
n.1281T>G (p.=)
17g.42543950G>ACA500218701NAGLUc.1944G>A (p.Leu648=)
c.1113G>A (p.Leu371=)
c.945G>A (p.Leu315=)
c.2001G>A (p.Leu667=)
c.1944G>A
n.1282G>A (p.=)
17g.42543950G>CCA399605575NAGLUc.1944G>C (p.Leu648Phe)
c.1113G>C (p.Leu371Phe)
c.945G>C (p.Leu315Phe)
c.2001G>C (p.Leu667Phe)
c.1944G>C
n.1282G>C (p.=)

Number of alleles fetched