Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.42543934_42543938dupCA2695225868NAGLUc.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)
17g.42543936T>ACA399605517NAGLUc.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)
17g.42543936T>CCA399605518NAGLUc.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)
17g.42543936T>GCA399605519NAGLUc.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
17g.42543937A=CA2260530531NAGLUc.1931A= (p.Tyr644=)
c.1269A= (n.1269A=)
c.1100A= (p.Tyr367=)
c.932A= (p.Tyr311=)
c.1988A= (p.Tyr663=)
17g.42543937A>CCA399605522NAGLUc.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)
17g.42543937A>GCA399605524NAGLUc.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
17g.42543937A>TCA399605526NAGLUc.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)
17g.42543938C>ACA399605529NAGLUc.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
17g.42543938C=CA2260530532NAGLUc.1932C= (p.Tyr644=)
c.1270C= (n.1270C=)
c.1101C= (p.Tyr367=)
c.933C= (p.Tyr311=)
c.1989C= (p.Tyr663=)
17g.42543938C>GCA399605528NAGLUc.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
17g.42543938C>TCA500218614NAGLUc.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
17g.42543939C>ACA399605530NAGLUc.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)
17g.42543939C=CA2260530533NAGLUc.1933C= (p.Gln645=)
c.1271C= (n.1271C=)
c.1102C= (p.Gln368=)
c.934C= (p.Gln312=)
c.1990C= (p.Gln664=)
17g.42543939C>GCA399605532NAGLUc.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)
17g.42543939C>TCA399605534NAGLUc.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
17g.42543940A=CA2260530534NAGLUc.1934A= (p.Gln645=)
c.1272A= (n.1272A=)
c.1103A= (p.Gln368=)
c.935A= (p.Gln312=)
c.1991A= (p.Gln664=)
17g.42543940A>CCA8577124NAGLUc.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
17g.42543940A>GCA399605537NAGLUc.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)
17g.42543940A>TCA399605539NAGLUc.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
17g.42543941G>ACA500218632NAGLUc.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
17g.42543941G>CCA399605541NAGLUc.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
17g.42543941G=CA2260530535NAGLUc.1935G= (p.Gln645=)
c.1273G= (n.1273G=)
c.1104G= (p.Gln368=)
c.936G= (p.Gln312=)
c.1992G= (p.Gln664=)
17g.42543941G>TCA399605543NAGLUc.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
17g.42543942C>ACA399605545NAGLUc.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)
17g.42543942C>GCA399605546NAGLUc.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
17g.42543942C>TCA500218641NAGLUc.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=)
17g.42543943T>ACA399605549NAGLUc.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)
17g.42543943T>CCA399605550NAGLUc.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)
17g.42543943T>GCA399605551NAGLUc.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)
17g.42543944G>ACA500218652NAGLUc.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
17g.42543944G>CCA500218657NAGLUc.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=)
17g.42543944G=CA2260530536NAGLUc.1938G= (p.Leu646=)
c.1276G= (n.1276G=)
c.1107G= (p.Leu369=)
c.939G= (p.Leu313=)
c.1995G= (p.Leu665=)
17g.42543944G>TCA500218655NAGLUc.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=)
17g.42543945A>CCA399605555NAGLUc.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)
17g.42543945A>GCA399605557NAGLUc.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)
17g.42543945A>TCA399605553NAGLUc.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)
17g.42543946C>ACA399605563NAGLUc.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)
17g.42543946C=CA2260530537NAGLUc.1940C= (p.Thr647=)
c.1278C= (n.1278C=)
c.1109C= (p.Thr370=)
c.941C= (p.Thr314=)
c.1997C= (p.Thr666=)
17g.42543946C>GCA399605559NAGLUc.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
17g.42543946C>TCA399605561NAGLUc.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
17g.42543947C>ACA500218685NAGLUc.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
17g.42543947C=CA2260530538NAGLUc.1941C= (p.Thr647=)
c.1279C= (n.1279C=)
c.1110C= (p.Thr370=)
c.942C= (p.Thr314=)
c.1998C= (p.Thr666=)
17g.42543947C>GCA500218680NAGLUc.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=)
17g.42543947C>TCA500218682NAGLUc.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=)
17g.42543948T>ACA399605565NAGLUc.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)
17g.42543948T>CCA500218693NAGLUc.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
17g.42543948T>GCA399605567NAGLUc.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
17g.42543949T>ACA399605569NAGLUc.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)
17g.42543949T>CCA399605571NAGLUc.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)
17g.42543949T>GCA399605573NAGLUc.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)
17g.42543949T=CA2260530539NAGLUc.1943T= (p.Leu648=)
c.1281T= (n.1281T=)
c.1112T= (p.Leu371=)
c.944T= (p.Leu315=)
c.2000T= (p.Leu667=)
17g.42543950G>ACA500218701NAGLUc.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
17g.42543950G>CCA399605575NAGLUc.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)
17g.42543950G>TCA399605577NAGLUc.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)
17g.42543950dupCA10588946NAGLUc.1944dup (p.Trp649ValfsTer?)
c.1282dup (n.1282dup)
c.1113dup (p.Trp372ValfsTer?)
c.945dup (p.Trp316ValfsTer?)
c.2001dup (p.Trp668ValfsTer?)
 ClinVar dbSNP
17g.42543951_42543953delCA2576276094NAGLUc.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)
17g.42543951T>ACA399605579NAGLUc.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)
17g.42543951T>CCA399605580NAGLUc.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
17g.42543951T>GCA399605581NAGLUc.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
17g.42543951T=CA2260530540NAGLUc.1945T= (p.Trp649=)
c.1283T= (n.1283T=)
c.1114T= (p.Trp372=)
c.946T= (p.Trp316=)
c.2002T= (p.Trp668=)
17g.42543951dupCA2637976274NAGLUc.1945dup (p.Trp649LeufsTer?)
c.1283dup (n.1283dup)
c.1114dup (p.Trp372LeufsTer?)
c.946dup (p.Trp316LeufsTer?)
c.2002dup (p.Trp668LeufsTer?)
 gnomAD v4
17g.42543952G>ACA399605584NAGLUc.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
17g.42543952G>CCA8577125NAGLUc.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
17g.42543952G=CA2260530541NAGLUc.1946G= (p.Trp649=)
c.1284G= (n.1284G=)
c.1115G= (p.Trp372=)
c.947G= (p.Trp316=)
c.2003G= (p.Trp668=)
17g.42543952G>TCA170085NAGLUc.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
17g.42543953G>ACA399605587NAGLUc.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)
17g.42543953G>CCA399605589NAGLUc.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
17g.42543953G>TCA399605590NAGLUc.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)
17g.42543954G>ACA399605591NAGLUc.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
17g.42543954G>CCA399605592NAGLUc.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)
17g.42543954G=CA2260530542NAGLUc.1948G= (p.Gly650=)
c.1286G= (n.1286G=)
c.1117G= (p.Gly373=)
c.949G= (p.Gly317=)
c.2005G= (p.Gly669=)
17g.42543954G>TCA399605594NAGLUc.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)
17g.42543956_42543964delCA2637976277NAGLUc.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
17g.42543955G>ACA170087NAGLUc.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
17g.42543955G>CCA399605596NAGLUc.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)
17g.42543955G=CA2260530543NAGLUc.1949G= (p.Gly650=)
c.1287G= (n.1287G=)
c.1118G= (p.Gly373=)
c.950G= (p.Gly317=)
c.2006G= (p.Gly669=)
17g.42543955G>TCA399605598NAGLUc.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
17g.42543956G>ACA500218758NAGLUc.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
17g.42543956G>CCA500218763NAGLUc.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=)
17g.42543956G=CA2260530544NAGLUc.1950G= (p.Gly650=)
c.1288G= (n.1288G=)
c.1119G= (p.Gly373=)
c.951G= (p.Gly317=)
c.2007G= (p.Gly669=)
17g.42543956G>TCA500218760NAGLUc.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
17g.42543957_42543960dupCA2695225869NAGLUc.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?)
17g.42543957C>ACA399605600NAGLUc.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)
17g.42543957C>GCA399605602NAGLUc.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)
17g.42543957C>TCA399605603NAGLUc.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
17g.42543958C>ACA399605607NAGLUc.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)
17g.42543958C>GCA399605606NAGLUc.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)
17g.42543958C>TCA399605604NAGLUc.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
17g.42543959A>CCA500218782NAGLUc.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=)
17g.42543959A>GCA500218779NAGLUc.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=)
17g.42543959A>TCA500218783NAGLUc.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=)
17g.42543960G>ACA399605609NAGLUc.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
17g.42543960G>CCA399605611NAGLUc.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
17g.42543960G=CA2260530545NAGLUc.1954G= (p.Glu652=)
c.1292G= (n.1292G=)
c.1123G= (p.Glu375=)
c.955G= (p.Glu319=)
c.2011G= (p.Glu671=)
17g.42543960G>TCA399605613NAGLUc.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)
17g.42543961A>CCA399605615NAGLUc.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)
17g.42543961A>GCA399605617NAGLUc.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
17g.42543961A>TCA399605619NAGLUc.1955A>T (p.Glu652Val)
c.1293A>T (n.1293A>T)
c.1124A>T (p.Glu375Val)
c.956A>T (p.Glu319Val)
c.2012A>T (p.Glu671Val)
 gnomAD v4
17g.42543962A=CA2260530546NAGLUc.1956A= (p.Glu652=)
c.1294A= (n.1294A=)
c.1125A= (p.Glu375=)
c.957A= (p.Glu319=)
c.2013A= (p.Glu671=)
17g.42543962A>CCA399605623NAGLUc.1956A>C (p.Glu652Asp)
c.1294A>C (n.1294A>C)
c.1125A>C (p.Glu375Asp)
c.957A>C (p.Glu319Asp)
c.2013A>C (p.Glu671Asp)
17g.42543962A>GCA500218796NAGLUc.1956A>G (p.Glu652=)
c.1294A>G (n.1294A>G)
c.1125A>G (p.Glu375=)
c.957A>G (p.Glu319=)
c.2013A>G (p.Glu671=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.42543962A>TCA399605621NAGLUc.1956A>T (p.Glu652Asp)
c.1294A>T (n.1294A>T)
c.1125A>T (p.Glu375Asp)
c.957A>T (p.Glu319Asp)
c.2013A>T (p.Glu671Asp)
17g.42543963G>ACA399605625NAGLUc.1957G>A (p.Gly653Ser)
c.1295G>A (n.1295G>A)
c.1126G>A (p.Gly376Ser)
c.958G>A (p.Gly320Ser)
c.2014G>A (p.Gly672Ser)
17g.42543963G>CCA399605626NAGLUc.1957G>C (p.Gly653Arg)
c.1295G>C (n.1295G>C)
c.1126G>C (p.Gly376Arg)
c.958G>C (p.Gly320Arg)
c.2014G>C (p.Gly672Arg)
17g.42543963G>TCA399605628NAGLUc.1957G>T (p.Gly653Cys)
c.1295G>T (n.1295G>T)
c.1126G>T (p.Gly376Cys)
c.958G>T (p.Gly320Cys)
c.2014G>T (p.Gly672Cys)
17g.42543964G>ACA399605630NAGLUc.1958G>A (p.Gly653Asp)
c.1296G>A (n.1296G>A)
c.1127G>A (p.Gly376Asp)
c.959G>A (p.Gly320Asp)
c.2015G>A (p.Gly672Asp)
 dbSNP gnomAD v3 gnomAD v4
17g.42543964G>CCA399605632NAGLUc.1958G>C (p.Gly653Ala)
c.1296G>C (n.1296G>C)
c.1127G>C (p.Gly376Ala)
c.959G>C (p.Gly320Ala)
c.2015G>C (p.Gly672Ala)
17g.42543964G=CA2260530547NAGLUc.1958G= (p.Gly653=)
c.1296G= (n.1296G=)
c.1127G= (p.Gly376=)
c.959G= (p.Gly320=)
c.2015G= (p.Gly672=)
17g.42543964G>TCA399605634NAGLUc.1958G>T (p.Gly653Val)
c.1296G>T (n.1296G>T)
c.1127G>T (p.Gly376Val)
c.959G>T (p.Gly320Val)
c.2015G>T (p.Gly672Val)
17g.42543965C>ACA500217065NAGLUc.1959C>A (p.Gly653=)
c.1297C>A (n.1297C>A)
c.1128C>A (p.Gly376=)
c.960C>A (p.Gly320=)
c.2016C>A (p.Gly672=)
17g.42543965C=CA2260530548NAGLUc.1959C= (p.Gly653=)
c.1297C= (n.1297C=)
c.1128C= (p.Gly376=)
c.960C= (p.Gly320=)
c.2016C= (p.Gly672=)
17g.42543965C>GCA500217064NAGLUc.1959C>G (p.Gly653=)
c.1297C>G (n.1297C>G)
c.1128C>G (p.Gly376=)
c.960C>G (p.Gly320=)
c.2016C>G (p.Gly672=)
17g.42543965C>TCA500217066NAGLUc.1959C>T (p.Gly653=)
c.1297C>T (n.1297C>T)
c.1128C>T (p.Gly376=)
c.960C>T (p.Gly320=)
c.2016C>T (p.Gly672=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.42543966A>CCA399605636NAGLUc.1960A>C (p.Asn654His)
c.1298A>C (n.1298A>C)
c.1129A>C (p.Asn377His)
c.961A>C (p.Asn321His)
c.2017A>C (p.Asn673His)
17g.42543966A>GCA399605640NAGLUc.1960A>G (p.Asn654Asp)
c.1298A>G (n.1298A>G)
c.1129A>G (p.Asn377Asp)
c.961A>G (p.Asn321Asp)
c.2017A>G (p.Asn673Asp)
17g.42543966A>TCA399605637NAGLUc.1960A>T (p.Asn654Tyr)
c.1298A>T (n.1298A>T)
c.1129A>T (p.Asn377Tyr)
c.961A>T (p.Asn321Tyr)
c.2017A>T (p.Asn673Tyr)
17g.42543967A>CCA399605642NAGLUc.1961A>C (p.Asn654Thr)
c.1299A>C (n.1299A>C)
c.1130A>C (p.Asn377Thr)
c.962A>C (p.Asn321Thr)
c.2018A>C (p.Asn673Thr)
17g.42543967A>GCA399605643NAGLUc.1961A>G (p.Asn654Ser)
c.1299A>G (n.1299A>G)
c.1130A>G (p.Asn377Ser)
c.962A>G (p.Asn321Ser)
c.2018A>G (p.Asn673Ser)
17g.42543967A>TCA399605645NAGLUc.1961A>T (p.Asn654Ile)
c.1299A>T (n.1299A>T)
c.1130A>T (p.Asn377Ile)
c.962A>T (p.Asn321Ile)
c.2018A>T (p.Asn673Ile)
17g.42543968C>ACA399605648NAGLUc.1962C>A (p.Asn654Lys)
c.1300C>A (n.1300C>A)
c.1131C>A (p.Asn377Lys)
c.963C>A (p.Asn321Lys)
c.2019C>A (p.Asn673Lys)
17g.42543968C>GCA399605649NAGLUc.1962C>G (p.Asn654Lys)
c.1300C>G (n.1300C>G)
c.1131C>G (p.Asn377Lys)
c.963C>G (p.Asn321Lys)
c.2019C>G (p.Asn673Lys)
17g.42543968C>TCA500217068NAGLUc.1962C>T (p.Asn654=)
c.1300C>T (n.1300C>T)
c.1131C>T (p.Asn377=)
c.963C>T (p.Asn321=)
c.2019C>T (p.Asn673=)
17g.42543969A>CCA399605651NAGLUc.1963A>C (p.Ile655Leu)
c.1301A>C (n.1301A>C)
c.1132A>C (p.Ile378Leu)
c.964A>C (p.Ile322Leu)
c.2020A>C (p.Ile674Leu)
17g.42543969A>GCA399605652NAGLUc.1963A>G (p.Ile655Val)
c.1301A>G (n.1301A>G)
c.1132A>G (p.Ile378Val)
c.964A>G (p.Ile322Val)
c.2020A>G (p.Ile674Val)
17g.42543969A>TCA399605655NAGLUc.1963A>T (p.Ile655Phe)
c.1301A>T (n.1301A>T)
c.1132A>T (p.Ile378Phe)
c.964A>T (p.Ile322Phe)
c.2020A>T (p.Ile674Phe)
17g.42543970T>ACA399605656NAGLUc.1964T>A (p.Ile655Asn)
c.1302T>A (n.1302T>A)
c.1133T>A (p.Ile378Asn)
c.965T>A (p.Ile322Asn)
c.2021T>A (p.Ile674Asn)
17g.42543970T>CCA399605658NAGLUc.1964T>C (p.Ile655Thr)
c.1302T>C (n.1302T>C)
c.1133T>C (p.Ile378Thr)
c.965T>C (p.Ile322Thr)
c.2021T>C (p.Ile674Thr)
17g.42543970T>GCA399605660NAGLUc.1964T>G (p.Ile655Ser)
c.1302T>G (n.1302T>G)
c.1133T>G (p.Ile378Ser)
c.965T>G (p.Ile322Ser)
c.2021T>G (p.Ile674Ser)
17g.42543971C>ACA500217074NAGLUc.1965C>A (p.Ile655=)
c.1303C>A (n.1303C>A)
c.1134C>A (p.Ile378=)
c.966C>A (p.Ile322=)
c.2022C>A (p.Ile674=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.42543971C=CA2260530549NAGLUc.1965C= (p.Ile655=)
c.1303C= (n.1303C=)
c.1134C= (p.Ile378=)
c.966C= (p.Ile322=)
c.2022C= (p.Ile674=)
17g.42543971C>GCA399605662NAGLUc.1965C>G (p.Ile655Met)
c.1303C>G (n.1303C>G)
c.1134C>G (p.Ile378Met)
c.966C>G (p.Ile322Met)
c.2022C>G (p.Ile674Met)
17g.42543971C>TCA500217073NAGLUc.1965C>T (p.Ile655=)
c.1303C>T (n.1303C>T)
c.1134C>T (p.Ile378=)
c.966C>T (p.Ile322=)
c.2022C>T (p.Ile674=)
 COSMIC
17g.42543972C>ACA399605666NAGLUc.1966C>A (p.Leu656Met)
c.1304C>A (n.1304C>A)
c.1135C>A (p.Leu379Met)
c.967C>A (p.Leu323Met)
c.2023C>A (p.Leu675Met)
 gnomAD v4
17g.42543972C>GCA399605664NAGLUc.1966C>G (p.Leu656Val)
c.1304C>G (n.1304C>G)
c.1135C>G (p.Leu379Val)
c.967C>G (p.Leu323Val)
c.2023C>G (p.Leu675Val)
17g.42543972C>TCA500217075NAGLUc.1966C>T (p.Leu656=)
c.1304C>T (n.1304C>T)
c.1135C>T (p.Leu379=)
c.967C>T (p.Leu323=)
c.2023C>T (p.Leu675=)
 ClinVar
17g.42543973T>ACA399605668NAGLUc.1967T>A (p.Leu656Gln)
c.1305T>A (n.1305T>A)
c.1136T>A (p.Leu379Gln)
c.968T>A (p.Leu323Gln)
c.2024T>A (p.Leu675Gln)
17g.42543973T>CCA399605672NAGLUc.1967T>C (p.Leu656Pro)
c.1305T>C (n.1305T>C)
c.1136T>C (p.Leu379Pro)
c.968T>C (p.Leu323Pro)
c.2024T>C (p.Leu675Pro)
 ClinVar dbSNP
17g.42543973T>GCA399605670NAGLUc.1967T>G (p.Leu656Arg)
c.1305T>G (n.1305T>G)
c.1136T>G (p.Leu379Arg)
c.968T>G (p.Leu323Arg)
c.2024T>G (p.Leu675Arg)
17g.42543973T=CA2260530550NAGLUc.1967T= (p.Leu656=)
c.1305T= (n.1305T=)
c.1136T= (p.Leu379=)
c.968T= (p.Leu323=)
c.2024T= (p.Leu675=)
17g.42543974G>ACA500217079NAGLUc.1968G>A (p.Leu656=)
c.1306G>A (n.1306G>A)
c.1137G>A (p.Leu379=)
c.969G>A (p.Leu323=)
c.2025G>A (p.Leu675=)
 dbSNP gnomAD v3 gnomAD v4
17g.42543974G>CCA500217080NAGLUc.1968G>C (p.Leu656=)
c.1306G>C (n.1306G>C)
c.1137G>C (p.Leu379=)
c.969G>C (p.Leu323=)
c.2025G>C (p.Leu675=)
17g.42543974G=CA2260530551NAGLUc.1968G= (p.Leu656=)
c.1306G= (n.1306G=)
c.1137G= (p.Leu379=)
c.969G= (p.Leu323=)
c.2025G= (p.Leu675=)
17g.42543974G>TCA500217078NAGLUc.1968G>T (p.Leu656=)
c.1306G>T (n.1306G>T)
c.1137G>T (p.Leu379=)
c.969G>T (p.Leu323=)
c.2025G>T (p.Leu675=)
17g.42543975G>ACA399605674NAGLUc.1969G>A (p.Asp657Asn)
c.1307G>A (n.1307G>A)
c.1138G>A (p.Asp380Asn)
c.970G>A (p.Asp324Asn)
c.2026G>A (p.Asp676Asn)
 gnomAD v4
17g.42543975G>CCA399605675NAGLUc.1969G>C (p.Asp657His)
c.1307G>C (n.1307G>C)
c.1138G>C (p.Asp380His)
c.970G>C (p.Asp324His)
c.2026G>C (p.Asp676His)
 ClinVar dbSNP
17g.42543975G=CA2260530552NAGLUc.1969G= (p.Asp657=)
c.1307G= (n.1307G=)
c.1138G= (p.Asp380=)
c.970G= (p.Asp324=)
c.2026G= (p.Asp676=)
17g.42543975G>TCA399605677NAGLUc.1969G>T (p.Asp657Tyr)
c.1307G>T (n.1307G>T)
c.1138G>T (p.Asp380Tyr)
c.970G>T (p.Asp324Tyr)
c.2026G>T (p.Asp676Tyr)
17g.42543976A>CCA399605679NAGLUc.1970A>C (p.Asp657Ala)
c.1308A>C (n.1308A>C)
c.1139A>C (p.Asp380Ala)
c.971A>C (p.Asp324Ala)
c.2027A>C (p.Asp676Ala)
17g.42543976A>GCA399605681NAGLUc.1970A>G (p.Asp657Gly)
c.1308A>G (n.1308A>G)
c.1139A>G (p.Asp380Gly)
c.971A>G (p.Asp324Gly)
c.2027A>G (p.Asp676Gly)
 gnomAD v4
17g.42543976A>TCA399605683NAGLUc.1970A>T (p.Asp657Val)
c.1308A>T (n.1308A>T)
c.1139A>T (p.Asp380Val)
c.971A>T (p.Asp324Val)
c.2027A>T (p.Asp676Val)
17g.42543977C>ACA399605684NAGLUc.1971C>A (p.Asp657Glu)
c.1309C>A (n.1309C>A)
c.1140C>A (p.Asp380Glu)
c.972C>A (p.Asp324Glu)
c.2028C>A (p.Asp676Glu)
17g.42543977C>GCA399605686NAGLUc.1971C>G (p.Asp657Glu)
c.1309C>G (n.1309C>G)
c.1140C>G (p.Asp380Glu)
c.972C>G (p.Asp324Glu)
c.2028C>G (p.Asp676Glu)
17g.42543977C>TCA500217082NAGLUc.1971C>T (p.Asp657=)
c.1309C>T (n.1309C>T)
c.1140C>T (p.Asp380=)
c.972C>T (p.Asp324=)
c.2028C>T (p.Asp676=)
 gnomAD v4
17g.42543978T>ACA399605688NAGLUc.1972T>A (p.Tyr658Asn)
c.1310T>A (n.1310T>A)
c.1141T>A (p.Tyr381Asn)
c.973T>A (p.Tyr325Asn)
c.2029T>A (p.Tyr677Asn)
17g.42543978T>CCA399605690NAGLUc.1972T>C (p.Tyr658His)
c.1310T>C (n.1310T>C)
c.1141T>C (p.Tyr381His)
c.973T>C (p.Tyr325His)
c.2029T>C (p.Tyr677His)
17g.42543978T>GCA399605691NAGLUc.1972T>G (p.Tyr658Asp)
c.1310T>G (n.1310T>G)
c.1141T>G (p.Tyr381Asp)
c.973T>G (p.Tyr325Asp)
c.2029T>G (p.Tyr677Asp)
17g.42543979A=CA2260530553NAGLUc.1973A= (p.Tyr658=)
c.1311A= (n.1311A=)
c.1142A= (p.Tyr381=)
c.974A= (p.Tyr325=)
c.2030A= (p.Tyr677=)
17g.42543979A>CCA399605694NAGLUc.1973A>C (p.Tyr658Ser)
c.1311A>C (n.1311A>C)
c.1142A>C (p.Tyr381Ser)
c.974A>C (p.Tyr325Ser)
c.2030A>C (p.Tyr677Ser)
17g.42543979A>GCA399605696NAGLUc.1973A>G (p.Tyr658Cys)
c.1311A>G (n.1311A>G)
c.1142A>G (p.Tyr381Cys)
c.974A>G (p.Tyr325Cys)
c.2030A>G (p.Tyr677Cys)
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.42543979A>TCA399605697NAGLUc.1973A>T (p.Tyr658Phe)
c.1311A>T (n.1311A>T)
c.1142A>T (p.Tyr381Phe)
c.974A>T (p.Tyr325Phe)
c.2030A>T (p.Tyr677Phe)
17g.42543980T>ACA399605699NAGLUc.1974T>A (p.Tyr658Ter)
c.1312T>A (n.1312T>A)
c.1143T>A (p.Tyr381Ter)
c.975T>A (p.Tyr325Ter)
c.2031T>A (p.Tyr677Ter)
17g.42543980T>CCA500217084NAGLUc.1974T>C (p.Tyr658=)
c.1312T>C (n.1312T>C)
c.1143T>C (p.Tyr381=)
c.975T>C (p.Tyr325=)
c.2031T>C (p.Tyr677=)
17g.42543980T>GCA399605701NAGLUc.1974T>G (p.Tyr658Ter)
c.1312T>G (n.1312T>G)
c.1143T>G (p.Tyr381Ter)
c.975T>G (p.Tyr325Ter)
c.2031T>G (p.Tyr677Ter)
17g.42543981G>ACA399605702NAGLUc.1975G>A (p.Ala659Thr)
c.1313G>A (n.1313G>A)
c.1144G>A (p.Ala382Thr)
c.976G>A (p.Ala326Thr)
c.2032G>A (p.Ala678Thr)
17g.42543981G>CCA399605703NAGLUc.1975G>C (p.Ala659Pro)
c.1313G>C (n.1313G>C)
c.1144G>C (p.Ala382Pro)
c.976G>C (p.Ala326Pro)
c.2032G>C (p.Ala678Pro)
17g.42543981G>TCA399605705NAGLUc.1975G>T (p.Ala659Ser)
c.1313G>T (n.1313G>T)
c.1144G>T (p.Ala382Ser)
c.976G>T (p.Ala326Ser)
c.2032G>T (p.Ala678Ser)
17g.42543982C>ACA399605708NAGLUc.1976C>A (p.Ala659Asp)
c.1314C>A (n.1314C>A)
c.1145C>A (p.Ala382Asp)
c.977C>A (p.Ala326Asp)
c.2033C>A (p.Ala678Asp)
17g.42543982C=CA2260530554NAGLUc.1976C= (p.Ala659=)
c.1314C= (n.1314C=)
c.1145C= (p.Ala382=)
c.977C= (p.Ala326=)
c.2033C= (p.Ala678=)
17g.42543982C>GCA399605709NAGLUc.1976C>G (p.Ala659Gly)
c.1314C>G (n.1314C>G)
c.1145C>G (p.Ala382Gly)
c.977C>G (p.Ala326Gly)
c.2033C>G (p.Ala678Gly)
17g.42543982C>TCA399605711NAGLUc.1976C>T (p.Ala659Val)
c.1314C>T (n.1314C>T)
c.1145C>T (p.Ala382Val)
c.977C>T (p.Ala326Val)
c.2033C>T (p.Ala678Val)
 dbSNP gnomAD v3 gnomAD v4
17g.42543983C>ACA500217091NAGLUc.1977C>A (p.Ala659=)
c.1315C>A (n.1315C>A)
c.1146C>A (p.Ala382=)
c.978C>A (p.Ala326=)
c.2034C>A (p.Ala678=)
17g.42543983C>GCA500217090NAGLUc.1977C>G (p.Ala659=)
c.1315C>G (n.1315C>G)
c.1146C>G (p.Ala382=)
c.978C>G (p.Ala326=)
c.2034C>G (p.Ala678=)
17g.42543983C>TCA500217089NAGLUc.1977C>T (p.Ala659=)
c.1315C>T (n.1315C>T)
c.1146C>T (p.Ala382=)
c.978C>T (p.Ala326=)
c.2034C>T (p.Ala678=)
 ClinVar
17g.42543984A>CCA399605713NAGLUc.1978A>C (p.Asn660His)
c.1316A>C (n.1316A>C)
c.1147A>C (p.Asn383His)
c.979A>C (p.Asn327His)
c.2035A>C (p.Asn679His)
17g.42543984A>GCA399605715NAGLUc.1978A>G (p.Asn660Asp)
c.1316A>G (n.1316A>G)
c.1147A>G (p.Asn383Asp)
c.979A>G (p.Asn327Asp)
c.2035A>G (p.Asn679Asp)
 ClinVar
17g.42543984A>TCA399605716NAGLUc.1978A>T (p.Asn660Tyr)
c.1316A>T (n.1316A>T)
c.1147A>T (p.Asn383Tyr)
c.979A>T (p.Asn327Tyr)
c.2035A>T (p.Asn679Tyr)
17g.42543985A>CCA399605719NAGLUc.1979A>C (p.Asn660Thr)
c.1317A>C (n.1317A>C)
c.1148A>C (p.Asn383Thr)
c.980A>C (p.Asn327Thr)
c.2036A>C (p.Asn679Thr)
17g.42543985A>GCA399605720NAGLUc.1979A>G (p.Asn660Ser)
c.1317A>G (n.1317A>G)
c.1148A>G (p.Asn383Ser)
c.980A>G (p.Asn327Ser)
c.2036A>G (p.Asn679Ser)
 gnomAD v4
17g.42543985A>TCA399605722NAGLUc.1979A>T (p.Asn660Ile)
c.1317A>T (n.1317A>T)
c.1148A>T (p.Asn383Ile)
c.980A>T (p.Asn327Ile)
c.2036A>T (p.Asn679Ile)
17g.42543986C>ACA399605724NAGLUc.1980C>A (p.Asn660Lys)
c.1318C>A (n.1318C>A)
c.1149C>A (p.Asn383Lys)
c.981C>A (p.Asn327Lys)
c.2037C>A (p.Asn679Lys)
 ClinVar dbSNP gnomAD v4
17g.42543986C=CA2260530555NAGLUc.1980C= (p.Asn660=)
c.1318C= (n.1318C=)
c.1149C= (p.Asn383=)
c.981C= (p.Asn327=)
c.2037C= (p.Asn679=)
17g.42543986C>GCA399605726NAGLUc.1980C>G (p.Asn660Lys)
c.1318C>G (n.1318C>G)
c.1149C>G (p.Asn383Lys)
c.981C>G (p.Asn327Lys)
c.2037C>G (p.Asn679Lys)
17g.42543986C>TCA290781159NAGLUc.1980C>T (p.Asn660=)
c.1318C>T (n.1318C>T)
c.1149C>T (p.Asn383=)
c.981C>T (p.Asn327=)
c.2037C>T (p.Asn679=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.42543987A>CCA399605727NAGLUc.1981A>C (p.Lys661Gln)
c.1319A>C (n.1319A>C)
c.1150A>C (p.Lys384Gln)
c.982A>C (p.Lys328Gln)
c.2038A>C (p.Lys680Gln)
17g.42543987A>GCA399605732NAGLUc.1981A>G (p.Lys661Glu)
c.1319A>G (n.1319A>G)
c.1150A>G (p.Lys384Glu)
c.982A>G (p.Lys328Glu)
c.2038A>G (p.Lys680Glu)
17g.42543987A>TCA399605729NAGLUc.1981A>T (p.Lys661Ter)
c.1319A>T (n.1319A>T)
c.1150A>T (p.Lys384Ter)
c.982A>T (p.Lys328Ter)
c.2038A>T (p.Lys680Ter)
17g.42543988A>CCA399605733NAGLUc.1982A>C (p.Lys661Thr)
c.1320A>C (n.1320A>C)
c.1151A>C (p.Lys384Thr)
c.983A>C (p.Lys328Thr)
c.2039A>C (p.Lys680Thr)
17g.42543988A>GCA399605735NAGLUc.1982A>G (p.Lys661Arg)
c.1320A>G (n.1320A>G)
c.1151A>G (p.Lys384Arg)
c.983A>G (p.Lys328Arg)
c.2039A>G (p.Lys680Arg)
17g.42543988A>TCA399605737NAGLUc.1982A>T (p.Lys661Met)
c.1320A>T (n.1320A>T)
c.1151A>T (p.Lys384Met)
c.983A>T (p.Lys328Met)
c.2039A>T (p.Lys680Met)
17g.42543989G>ACA8577126NAGLUc.1983G>A (p.Lys661=)
c.1321G>A (n.1321G>A)
c.1152G>A (p.Lys384=)
c.984G>A (p.Lys328=)
c.2040G>A (p.Lys680=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42543989G>CCA399605740NAGLUc.1983G>C (p.Lys661Asn)
c.1321G>C (n.1321G>C)
c.1152G>C (p.Lys384Asn)
c.984G>C (p.Lys328Asn)
c.2040G>C (p.Lys680Asn)
17g.42543989G=CA2260530556NAGLUc.1983G= (p.Lys661=)
c.1321G= (n.1321G=)
c.1152G= (p.Lys384=)
c.984G= (p.Lys328=)
c.2040G= (p.Lys680=)
17g.42543989G>TCA399605742NAGLUc.1983G>T (p.Lys661Asn)
c.1321G>T (n.1321G>T)
c.1152G>T (p.Lys384Asn)
c.984G>T (p.Lys328Asn)
c.2040G>T (p.Lys680Asn)
17g.42543990C>ACA399605744NAGLUc.1984C>A (p.Gln662Lys)
c.1322C>A (n.1322C>A)
c.1153C>A (p.Gln385Lys)
c.985C>A (p.Gln329Lys)
c.2041C>A (p.Gln681Lys)
17g.42543990C=CA2260530557NAGLUc.1984C= (p.Gln662=)
c.1322C= (n.1322C=)
c.1153C= (p.Gln385=)
c.985C= (p.Gln329=)
c.2041C= (p.Gln681=)
17g.42543990C>GCA399605745NAGLUc.1984C>G (p.Gln662Glu)
c.1322C>G (n.1322C>G)
c.1153C>G (p.Gln385Glu)
c.985C>G (p.Gln329Glu)
c.2041C>G (p.Gln681Glu)
 gnomAD v4
17g.42543990C>TCA399605747NAGLUc.1984C>T (p.Gln662Ter)
c.1322C>T (n.1322C>T)
c.1153C>T (p.Gln385Ter)
c.985C>T (p.Gln329Ter)
c.2041C>T (p.Gln681Ter)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.42543991A>CCA399605749NAGLUc.1985A>C (p.Gln662Pro)
c.1323A>C (n.1323A>C)
c.1154A>C (p.Gln385Pro)
c.986A>C (p.Gln329Pro)
c.2042A>C (p.Gln681Pro)
17g.42543991A>GCA399605751NAGLUc.1985A>G (p.Gln662Arg)
c.1323A>G (n.1323A>G)
c.1154A>G (p.Gln385Arg)
c.986A>G (p.Gln329Arg)
c.2042A>G (p.Gln681Arg)
17g.42543991A>TCA399605753NAGLUc.1985A>T (p.Gln662Leu)
c.1323A>T (n.1323A>T)
c.1154A>T (p.Gln385Leu)
c.986A>T (p.Gln329Leu)
c.2042A>T (p.Gln681Leu)
17g.42543992G>ACA500217100NAGLUc.1986G>A (p.Gln662=)
c.1324G>A (n.1324G>A)
c.1155G>A (p.Gln385=)
c.987G>A (p.Gln329=)
c.2043G>A (p.Gln681=)
17g.42543992G>CCA399605754NAGLUc.1986G>C (p.Gln662His)
c.1324G>C (n.1324G>C)
c.1155G>C (p.Gln385His)
c.987G>C (p.Gln329His)
c.2043G>C (p.Gln681His)
17g.42543992G>TCA399605756NAGLUc.1986G>T (p.Gln662His)
c.1324G>T (n.1324G>T)
c.1155G>T (p.Gln385His)
c.987G>T (p.Gln329His)
c.2043G>T (p.Gln681His)
17g.42543993C>ACA399605757NAGLUc.1987C>A (p.Leu663Met)
c.1325C>A (n.1325C>A)
c.1156C>A (p.Leu386Met)
c.988C>A (p.Leu330Met)
c.2044C>A (p.Leu682Met)
17g.42543993C=CA2260530558NAGLUc.1987C= (p.Leu663=)
c.1325C= (n.1325C=)
c.1156C= (p.Leu386=)
c.988C= (p.Leu330=)
c.2044C= (p.Leu682=)
17g.42543993C>GCA399605758NAGLUc.1987C>G (p.Leu663Val)
c.1325C>G (n.1325C>G)
c.1156C>G (p.Leu386Val)
c.988C>G (p.Leu330Val)
c.2044C>G (p.Leu682Val)
 dbSNP gnomAD v2 gnomAD v4
17g.42543993C>TCA500217102NAGLUc.1987C>T (p.Leu663=)
c.1325C>T (n.1325C>T)
c.1156C>T (p.Leu386=)
c.988C>T (p.Leu330=)
c.2044C>T (p.Leu682=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.42543994T>ACA399605760NAGLUc.1988T>A (p.Leu663Gln)
c.1326T>A (n.1326T>A)
c.1157T>A (p.Leu386Gln)
c.989T>A (p.Leu330Gln)
c.2045T>A (p.Leu682Gln)
17g.42543994T>CCA399605762NAGLUc.1988T>C (p.Leu663Pro)
c.1326T>C (n.1326T>C)
c.1157T>C (p.Leu386Pro)
c.989T>C (p.Leu330Pro)
c.2045T>C (p.Leu682Pro)
17g.42543994T>GCA399605763NAGLUc.1988T>G (p.Leu663Arg)
c.1326T>G (n.1326T>G)
c.1157T>G (p.Leu386Arg)
c.989T>G (p.Leu330Arg)
c.2045T>G (p.Leu682Arg)
 dbSNP
17g.42543994T=CA2260530559NAGLUc.1988T= (p.Leu663=)
c.1326T= (n.1326T=)
c.1157T= (p.Leu386=)
c.989T= (p.Leu330=)
c.2045T= (p.Leu682=)
17g.42543995G>ACA500217107NAGLUc.1989G>A (p.Leu663=)
c.1327G>A (n.1327G>A)
c.1158G>A (p.Leu386=)
c.990G>A (p.Leu330=)
c.2046G>A (p.Leu682=)
17g.42543995G>CCA500217105NAGLUc.1989G>C (p.Leu663=)
c.1327G>C (n.1327G>C)
c.1158G>C (p.Leu386=)
c.990G>C (p.Leu330=)
c.2046G>C (p.Leu682=)
17g.42543995G>TCA500217106NAGLUc.1989G>T (p.Leu663=)
c.1327G>T (n.1327G>T)
c.1158G>T (p.Leu386=)
c.990G>T (p.Leu330=)
c.2046G>T (p.Leu682=)
17g.42543996G>ACA399605766NAGLUc.1990G>A (p.Ala664Thr)
c.1328G>A (n.1328G>A)
c.1159G>A (p.Ala387Thr)
c.991G>A (p.Ala331Thr)
c.2047G>A (p.Ala683Thr)
17g.42543996G>CCA399605767NAGLUc.1990G>C (p.Ala664Pro)
c.1328G>C (n.1328G>C)
c.1159G>C (p.Ala387Pro)
c.991G>C (p.Ala331Pro)
c.2047G>C (p.Ala683Pro)
17g.42543996G>TCA399605769NAGLUc.1990G>T (p.Ala664Ser)
c.1328G>T (n.1328G>T)
c.1159G>T (p.Ala387Ser)
c.991G>T (p.Ala331Ser)
c.2047G>T (p.Ala683Ser)
17g.42543997_42543998delCA913012295NAGLUc.1991_1992del (p.Ala664GlyfsTer20)
c.1329_1330del (n.1329_1330del)
c.1160_1161del (p.Ala387GlyfsTer20)
c.992_993del (p.Ala331GlyfsTer20)
c.2048_2049del (p.Ala683GlyfsTer20)
17g.42543997C>ACA399605771NAGLUc.1991C>A (p.Ala664Glu)
c.1329C>A (n.1329C>A)
c.1160C>A (p.Ala387Glu)
c.992C>A (p.Ala331Glu)
c.2048C>A (p.Ala683Glu)
17g.42543997C=CA2260530560NAGLUc.1991C= (p.Ala664=)
c.1329C= (n.1329C=)
c.1160C= (p.Ala387=)
c.992C= (p.Ala331=)
c.2048C= (p.Ala683=)
17g.42543997C>GCA399605773NAGLUc.1991C>G (p.Ala664Gly)
c.1329C>G (n.1329C>G)
c.1160C>G (p.Ala387Gly)
c.992C>G (p.Ala331Gly)
c.2048C>G (p.Ala683Gly)
17g.42543997C>TCA8577127NAGLUc.1991C>T (p.Ala664Val)
c.1329C>T (n.1329C>T)
c.1160C>T (p.Ala387Val)
c.992C>T (p.Ala331Val)
c.2048C>T (p.Ala683Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42543997_42543998delinsCGCA2260530561NAGLUc.1991_1992delinsCG (p.Ala664=)
c.1329_1330delinsCG (n.1329_1330delinsCG)
c.1160_1161delinsCG (p.Ala387=)
c.992_993delinsCG (p.Ala331=)
c.2048_2049delinsCG (p.Ala683=)
17g.42543998G>ACA290781165NAGLUc.1992G>A (p.Ala664=)
c.1330G>A (n.1330G>A)
c.1161G>A (p.Ala387=)
c.993G>A (p.Ala331=)
c.2049G>A (p.Ala683=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.42543998G>CCA500217109NAGLUc.1992G>C (p.Ala664=)
c.1330G>C (n.1330G>C)
c.1161G>C (p.Ala387=)
c.993G>C (p.Ala331=)
c.2049G>C (p.Ala683=)
17g.42543998G=CA2260530562NAGLUc.1992G= (p.Ala664=)
c.1330G= (n.1330G=)
c.1161G= (p.Ala387=)
c.993G= (p.Ala331=)
c.2049G= (p.Ala683=)
17g.42543998G>TCA500217108NAGLUc.1992G>T (p.Ala664=)
c.1330G>T (n.1330G>T)
c.1161G>T (p.Ala387=)
c.993G>T (p.Ala331=)
c.2049G>T (p.Ala683=)
17g.42544001delCA658823967NAGLUc.1995del (p.Leu666TrpfsTer?)
c.1333del (n.1333del)
c.1164del (p.Leu389TrpfsTer?)
c.996del (p.Leu333TrpfsTer?)
c.2052del (p.Leu685TrpfsTer?)
 ClinVar dbSNP gnomAD v4
17g.42543999G>ACA399605774NAGLUc.1993G>A (p.Gly665Arg)
c.1331G>A (n.1331G>A)
c.1162G>A (p.Gly388Arg)
c.994G>A (p.Gly332Arg)
c.2050G>A (p.Gly684Arg)
17g.42543999G>CCA399605778NAGLUc.1993G>C (p.Gly665Arg)
c.1331G>C (n.1331G>C)
c.1162G>C (p.Gly388Arg)
c.994G>C (p.Gly332Arg)
c.2050G>C (p.Gly684Arg)
17g.42543999G>TCA399605776NAGLUc.1993G>T (p.Gly665Trp)
c.1331G>T (n.1331G>T)
c.1162G>T (p.Gly388Trp)
c.994G>T (p.Gly332Trp)
c.2050G>T (p.Gly684Trp)
 gnomAD v4
17g.42544000G>ACA399605779NAGLUc.1994G>A (p.Gly665Glu)
c.1332G>A (n.1332G>A)
c.1163G>A (p.Gly388Glu)
c.995G>A (p.Gly332Glu)
c.2051G>A (p.Gly684Glu)
17g.42544000G>CCA399605782NAGLUc.1994G>C (p.Gly665Ala)
c.1332G>C (n.1332G>C)
c.1163G>C (p.Gly388Ala)
c.995G>C (p.Gly332Ala)
c.2051G>C (p.Gly684Ala)
17g.42544000G>TCA399605781NAGLUc.1994G>T (p.Gly665Val)
c.1332G>T (n.1332G>T)
c.1163G>T (p.Gly388Val)
c.995G>T (p.Gly332Val)
c.2051G>T (p.Gly684Val)
17g.42544001G>ACA500217115NAGLUc.1995G>A (p.Gly665=)
c.1333G>A (n.1333G>A)
c.1164G>A (p.Gly388=)
c.996G>A (p.Gly332=)
c.2052G>A (p.Gly684=)
17g.42544001G>CCA500217113NAGLUc.1995G>C (p.Gly665=)
c.1333G>C (n.1333G>C)
c.1164G>C (p.Gly388=)
c.996G>C (p.Gly332=)
c.2052G>C (p.Gly684=)
17g.42544001G=CA2260530563NAGLUc.1995G= (p.Gly665=)
c.1333G= (n.1333G=)
c.1164G= (p.Gly388=)
c.996G= (p.Gly332=)
c.2052G= (p.Gly684=)
17g.42544001G>TCA8577128NAGLUc.1995G>T (p.Gly665=)
c.1333G>T (n.1333G>T)
c.1164G>T (p.Gly388=)
c.996G>T (p.Gly332=)
c.2052G>T (p.Gly684=)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.42544002T>ACA399605786NAGLUc.1996T>A (p.Leu666Met)
c.1334T>A (n.1334T>A)
c.1165T>A (p.Leu389Met)
c.997T>A (p.Leu333Met)
c.2053T>A (p.Leu685Met)
17g.42544002T>CCA500217118NAGLUc.1996T>C (p.Leu666=)
c.1334T>C (n.1334T>C)
c.1165T>C (p.Leu389=)
c.997T>C (p.Leu333=)
c.2053T>C (p.Leu685=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.42544002T>GCA399605787NAGLUc.1996T>G (p.Leu666Val)
c.1334T>G (n.1334T>G)
c.1165T>G (p.Leu389Val)
c.997T>G (p.Leu333Val)
c.2053T>G (p.Leu685Val)
 dbSNP
17g.42544002T=CA2260530564NAGLUc.1996T= (p.Leu666=)
c.1334T= (n.1334T=)
c.1165T= (p.Leu389=)
c.997T= (p.Leu333=)
c.2053T= (p.Leu685=)
17g.42544003T>ACA399605790NAGLUc.1997T>A (p.Leu666Ter)
c.1335T>A (n.1335T>A)
c.1166T>A (p.Leu389Ter)
c.998T>A (p.Leu333Ter)
c.2054T>A (p.Leu685Ter)
17g.42544003T>CCA399605791NAGLUc.1997T>C (p.Leu666Ser)
c.1335T>C (n.1335T>C)
c.1166T>C (p.Leu389Ser)
c.998T>C (p.Leu333Ser)
c.2054T>C (p.Leu685Ser)
17g.42544003T>GCA399605793NAGLUc.1997T>G (p.Leu666Trp)
c.1335T>G (n.1335T>G)
c.1166T>G (p.Leu389Trp)
c.998T>G (p.Leu333Trp)
c.2054T>G (p.Leu685Trp)
17g.42544004G>ACA500217122NAGLUc.1998G>A (p.Leu666=)
c.1336G>A (n.1336G>A)
c.1167G>A (p.Leu389=)
c.999G>A (p.Leu333=)
c.2055G>A (p.Leu685=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.42544004G>CCA399605796NAGLUc.1998G>C (p.Leu666Phe)
c.1336G>C (n.1336G>C)
c.1167G>C (p.Leu389Phe)
c.999G>C (p.Leu333Phe)
c.2055G>C (p.Leu685Phe)
17g.42544004G=CA2260530565NAGLUc.1998G= (p.Leu666=)
c.1336G= (n.1336G=)
c.1167G= (p.Leu389=)
c.999G= (p.Leu333=)
c.2055G= (p.Leu685=)
17g.42544004G>TCA399605797NAGLUc.1998G>T (p.Leu666Phe)
c.1336G>T (n.1336G>T)
c.1167G>T (p.Leu389Phe)
c.999G>T (p.Leu333Phe)
c.2055G>T (p.Leu685Phe)
 dbSNP
17g.42544005G>ACA399605799NAGLUc.1999G>A (p.Val667Met)
c.1337G>A (n.1337G>A)
c.1168G>A (p.Val390Met)
c.1000G>A (p.Val334Met)
c.2056G>A (p.Val686Met)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.42544005G>CCA399605801NAGLUc.1999G>C (p.Val667Leu)
c.1337G>C (n.1337G>C)
c.1168G>C (p.Val390Leu)
c.1000G>C (p.Val334Leu)
c.2056G>C (p.Val686Leu)
17g.42544005G=CA2260530566NAGLUc.1999G= (p.Val667=)
c.1337G= (n.1337G=)
c.1168G= (p.Val390=)
c.1000G= (p.Val334=)
c.2056G= (p.Val686=)
17g.42544005G>TCA399605803NAGLUc.1999G>T (p.Val667Leu)
c.1337G>T (n.1337G>T)
c.1168G>T (p.Val390Leu)
c.1000G>T (p.Val334Leu)
c.2056G>T (p.Val686Leu)
17g.42544006T>ACA399605808NAGLUc.2000T>A (p.Val667Glu)
c.1338T>A (n.1338T>A)
c.1169T>A (p.Val390Glu)
c.1001T>A (p.Val334Glu)
c.2057T>A (p.Val686Glu)
17g.42544006T>CCA399605806NAGLUc.2000T>C (p.Val667Ala)
c.1338T>C (n.1338T>C)
c.1169T>C (p.Val390Ala)
c.1001T>C (p.Val334Ala)
c.2057T>C (p.Val686Ala)
17g.42544006T>GCA399605805NAGLUc.2000T>G (p.Val667Gly)
c.1338T>G (n.1338T>G)
c.1169T>G (p.Val390Gly)
c.1001T>G (p.Val334Gly)
c.2057T>G (p.Val686Gly)
17g.42544007G>ACA500217128NAGLUc.2001G>A (p.Val667=)
c.1339G>A (n.1339G>A)
c.1170G>A (p.Val390=)
c.1002G>A (p.Val334=)
c.2058G>A (p.Val686=)
 ClinVar dbSNP gnomAD v4
17g.42544007G>CCA500217126NAGLUc.2001G>C (p.Val667=)
c.1339G>C (n.1339G>C)
c.1170G>C (p.Val390=)
c.1002G>C (p.Val334=)
c.2058G>C (p.Val686=)
17g.42544007G=CA2260530567NAGLUc.2001G= (p.Val667=)
c.1339G= (n.1339G=)
c.1170G= (p.Val390=)
c.1002G= (p.Val334=)
c.2058G= (p.Val686=)
17g.42544007G>TCA500217130NAGLUc.2001G>T (p.Val667=)
c.1339G>T (n.1339G>T)
c.1170G>T (p.Val390=)
c.1002G>T (p.Val334=)
c.2058G>T (p.Val686=)
17g.42544008G>ACA399605810NAGLUc.2002G>A (p.Ala668Thr)
c.1340G>A (n.1340G>A)
c.1171G>A (p.Ala391Thr)
c.1003G>A (p.Ala335Thr)
c.2059G>A (p.Ala687Thr)
 gnomAD v4
17g.42544008G>CCA399605812NAGLUc.2002G>C (p.Ala668Pro)
c.1340G>C (n.1340G>C)
c.1171G>C (p.Ala391Pro)
c.1003G>C (p.Ala335Pro)
c.2059G>C (p.Ala687Pro)
17g.42544008G>TCA399605813NAGLUc.2002G>T (p.Ala668Ser)
c.1340G>T (n.1340G>T)
c.1171G>T (p.Ala391Ser)
c.1003G>T (p.Ala335Ser)
c.2059G>T (p.Ala687Ser)
17g.42544009C>ACA399605816NAGLUc.2003C>A (p.Ala668Asp)
c.1341C>A (n.1341C>A)
c.1172C>A (p.Ala391Asp)
c.1004C>A (p.Ala335Asp)
c.2060C>A (p.Ala687Asp)
17g.42544009C=CA2260530568NAGLUc.2003C= (p.Ala668=)
c.1341C= (n.1341C=)
c.1172C= (p.Ala391=)
c.1004C= (p.Ala335=)
c.2060C= (p.Ala687=)
17g.42544009C>GCA399605817NAGLUc.2003C>G (p.Ala668Gly)
c.1341C>G (n.1341C>G)
c.1172C>G (p.Ala391Gly)
c.1004C>G (p.Ala335Gly)
c.2060C>G (p.Ala687Gly)
17g.42544009C>TCA399605819NAGLUc.2003C>T (p.Ala668Val)
c.1341C>T (n.1341C>T)
c.1172C>T (p.Ala391Val)
c.1004C>T (p.Ala335Val)
c.2060C>T (p.Ala687Val)
 dbSNP gnomAD v3 gnomAD v4
17g.42544010C>ACA500217135NAGLUc.2004C>A (p.Ala668=)
c.1342C>A (n.1342C>A)
c.1173C>A (p.Ala391=)
c.1005C>A (p.Ala335=)
c.2061C>A (p.Ala687=)
 ClinVar
17g.42544010C=CA2260530569NAGLUc.2004C= (p.Ala668=)
c.1342C= (n.1342C=)
c.1173C= (p.Ala391=)
c.1005C= (p.Ala335=)
c.2061C= (p.Ala687=)
17g.42544010C>GCA500217133NAGLUc.2004C>G (p.Ala668=)
c.1342C>G (n.1342C>G)
c.1173C>G (p.Ala391=)
c.1005C>G (p.Ala335=)
c.2061C>G (p.Ala687=)
17g.42544010C>TCA500217134NAGLUc.2004C>T (p.Ala668=)
c.1342C>T (n.1342C>T)
c.1173C>T (p.Ala391=)
c.1005C>T (p.Ala335=)
c.2061C>T (p.Ala687=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.42544011A=CA2260530570NAGLUc.2005A= (p.Asn669=)
c.1343A= (n.1343A=)
c.1174A= (p.Asn392=)
c.1006A= (p.Asn336=)
c.2062A= (p.Asn688=)
17g.42544011A>CCA399605822NAGLUc.2005A>C (p.Asn669His)
c.1343A>C (n.1343A>C)
c.1174A>C (p.Asn392His)
c.1006A>C (p.Asn336His)
c.2062A>C (p.Asn688His)
17g.42544011A>GCA399605823NAGLUc.2005A>G (p.Asn669Asp)
c.1343A>G (n.1343A>G)
c.1174A>G (p.Asn392Asp)
c.1006A>G (p.Asn336Asp)
c.2062A>G (p.Asn688Asp)
 dbSNP gnomAD v2 gnomAD v4
17g.42544011A>TCA399605825NAGLUc.2005A>T (p.Asn669Tyr)
c.1343A>T (n.1343A>T)
c.1174A>T (p.Asn392Tyr)
c.1006A>T (p.Asn336Tyr)
c.2062A>T (p.Asn688Tyr)
17g.42544012A>CCA399605827NAGLUc.2006A>C (p.Asn669Thr)
c.1344A>C (n.1344A>C)
c.1175A>C (p.Asn392Thr)
c.1007A>C (p.Asn336Thr)
c.2063A>C (p.Asn688Thr)
17g.42544012A>GCA399605828NAGLUc.2006A>G (p.Asn669Ser)
c.1344A>G (n.1344A>G)
c.1175A>G (p.Asn392Ser)
c.1007A>G (p.Asn336Ser)
c.2063A>G (p.Asn688Ser)
 gnomAD v4
17g.42544012A>TCA399605830NAGLUc.2006A>T (p.Asn669Ile)
c.1344A>T (n.1344A>T)
c.1175A>T (p.Asn392Ile)
c.1007A>T (p.Asn336Ile)
c.2063A>T (p.Asn688Ile)
17g.42544017_42544019delCA626218624NAGLUc.2011_2013del (p.Tyr671del)
c.1349_1351del (n.1349_1351del)
c.1180_1182del (p.Tyr394del)
c.1012_1014del (p.Tyr338del)
c.2068_2070del (p.Tyr690del)
 gnomAD v2
17g.42544013C>ACA399605834NAGLUc.2007C>A (p.Asn669Lys)
c.1345C>A (n.1345C>A)
c.1176C>A (p.Asn392Lys)
c.1008C>A (p.Asn336Lys)
c.2064C>A (p.Asn688Lys)
17g.42544013C>GCA399605833NAGLUc.2007C>G (p.Asn669Lys)
c.1345C>G (n.1345C>G)
c.1176C>G (p.Asn392Lys)
c.1008C>G (p.Asn336Lys)
c.2064C>G (p.Asn688Lys)
 gnomAD v4
17g.42544013C>TCA500217140NAGLUc.2007C>T (p.Asn669=)
c.1345C>T (n.1345C>T)
c.1176C>T (p.Asn392=)
c.1008C>T (p.Asn336=)
c.2064C>T (p.Asn688=)
 gnomAD v4
17g.42544014T>ACA399605836NAGLUc.2008T>A (p.Tyr670Asn)
c.1346T>A (n.1346T>A)
c.1177T>A (p.Tyr393Asn)
c.1009T>A (p.Tyr337Asn)
c.2065T>A (p.Tyr689Asn)
17g.42544014T>CCA399605838NAGLUc.2008T>C (p.Tyr670His)
c.1346T>C (n.1346T>C)
c.1177T>C (p.Tyr393His)
c.1009T>C (p.Tyr337His)
c.2065T>C (p.Tyr689His)
17g.42544014T>GCA399605840NAGLUc.2008T>G (p.Tyr670Asp)
c.1346T>G (n.1346T>G)
c.1177T>G (p.Tyr393Asp)
c.1009T>G (p.Tyr337Asp)
c.2065T>G (p.Tyr689Asp)
17g.42544015A=CA2260530571NAGLUc.2009A= (p.Tyr670=)
c.1347A= (n.1347A=)
c.1178A= (p.Tyr393=)
c.1010A= (p.Tyr337=)
c.2066A= (p.Tyr689=)
17g.42544015A>CCA399605842NAGLUc.2009A>C (p.Tyr670Ser)
c.1347A>C (n.1347A>C)
c.1178A>C (p.Tyr393Ser)
c.1010A>C (p.Tyr337Ser)
c.2066A>C (p.Tyr689Ser)
 dbSNP gnomAD v4
17g.42544015A>GCA399605844NAGLUc.2009A>G (p.Tyr670Cys)
c.1347A>G (n.1347A>G)
c.1178A>G (p.Tyr393Cys)
c.1010A>G (p.Tyr337Cys)
c.2066A>G (p.Tyr689Cys)
 gnomAD v4 COSMIC
17g.42544015A>TCA399605846NAGLUc.2009A>T (p.Tyr670Phe)
c.1347A>T (n.1347A>T)
c.1178A>T (p.Tyr393Phe)
c.1010A>T (p.Tyr337Phe)
c.2066A>T (p.Tyr689Phe)
17g.42544016C>ACA399605847NAGLUc.2010C>A (p.Tyr670Ter)
c.1348C>A (n.1348C>A)
c.1179C>A (p.Tyr393Ter)
c.1011C>A (p.Tyr337Ter)
c.2067C>A (p.Tyr689Ter)
17g.42544016C=CA2260530572NAGLUc.2010C= (p.Tyr670=)
c.1348C= (n.1348C=)
c.1179C= (p.Tyr393=)
c.1011C= (p.Tyr337=)
c.2067C= (p.Tyr689=)
17g.42544016C>GCA399605849NAGLUc.2010C>G (p.Tyr670Ter)
c.1348C>G (n.1348C>G)
c.1179C>G (p.Tyr393Ter)
c.1011C>G (p.Tyr337Ter)
c.2067C>G (p.Tyr689Ter)
17g.42544016C>TCA500217143NAGLUc.2010C>T (p.Tyr670=)
c.1348C>T (n.1348C>T)
c.1179C>T (p.Tyr393=)
c.1011C>T (p.Tyr337=)
c.2067C>T (p.Tyr689=)
 ClinVar dbSNP gnomAD v4
17g.42544017T>ACA399605852NAGLUc.2011T>A (p.Tyr671Asn)
c.1349T>A (n.1349T>A)
c.1180T>A (p.Tyr394Asn)
c.1012T>A (p.Tyr338Asn)
c.2068T>A (p.Tyr690Asn)
17g.42544017T>CCA399605853NAGLUc.2011T>C (p.Tyr671His)
c.1349T>C (n.1349T>C)
c.1180T>C (p.Tyr394His)
c.1012T>C (p.Tyr338His)
c.2068T>C (p.Tyr690His)
 gnomAD v4
17g.42544017T>GCA399605855NAGLUc.2011T>G (p.Tyr671Asp)
c.1349T>G (n.1349T>G)
c.1180T>G (p.Tyr394Asp)
c.1012T>G (p.Tyr338Asp)
c.2068T>G (p.Tyr690Asp)
 gnomAD v4
17g.42544018A>CCA399605857NAGLUc.2012A>C (p.Tyr671Ser)
c.1350A>C (n.1350A>C)
c.1181A>C (p.Tyr394Ser)
c.1013A>C (p.Tyr338Ser)
c.2069A>C (p.Tyr690Ser)
17g.42544018A>GCA399605859NAGLUc.2012A>G (p.Tyr671Cys)
c.1350A>G (n.1350A>G)
c.1181A>G (p.Tyr394Cys)
c.1013A>G (p.Tyr338Cys)
c.2069A>G (p.Tyr690Cys)
17g.42544018A>TCA399605860NAGLUc.2012A>T (p.Tyr671Phe)
c.1350A>T (n.1350A>T)
c.1181A>T (p.Tyr394Phe)
c.1013A>T (p.Tyr338Phe)
c.2069A>T (p.Tyr690Phe)
17g.42544019C>ACA399605862NAGLUc.2013C>A (p.Tyr671Ter)
c.1351C>A (n.1351C>A)
c.1182C>A (p.Tyr394Ter)
c.1014C>A (p.Tyr338Ter)
c.2070C>A (p.Tyr690Ter)
17g.42544019C=CA2260530573NAGLUc.2013C= (p.Tyr671=)
c.1351C= (n.1351C=)
c.1182C= (p.Tyr394=)
c.1014C= (p.Tyr338=)
c.2070C= (p.Tyr690=)
17g.42544019C>GCA399605864NAGLUc.2013C>G (p.Tyr671Ter)
c.1351C>G (n.1351C>G)
c.1182C>G (p.Tyr394Ter)
c.1014C>G (p.Tyr338Ter)
c.2070C>G (p.Tyr690Ter)
 dbSNP gnomAD v2
17g.42544019C>TCA290781171NAGLUc.2013C>T (p.Tyr671=)
c.1351C>T (n.1351C>T)
c.1182C>T (p.Tyr394=)
c.1014C>T (p.Tyr338=)
c.2070C>T (p.Tyr690=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.42544020A>CCA399605866NAGLUc.2014A>C (p.Thr672Pro)
c.1352A>C (n.1352A>C)
c.1183A>C (p.Thr395Pro)
c.1015A>C (p.Thr339Pro)
c.2071A>C (p.Thr691Pro)
 gnomAD v4
17g.42544020A>GCA399605868NAGLUc.2014A>G (p.Thr672Ala)
c.1352A>G (n.1352A>G)
c.1183A>G (p.Thr395Ala)
c.1015A>G (p.Thr339Ala)
c.2071A>G (p.Thr691Ala)
17g.42544020A>TCA399605870NAGLUc.2014A>T (p.Thr672Ser)
c.1352A>T (n.1352A>T)
c.1183A>T (p.Thr395Ser)
c.1015A>T (p.Thr339Ser)
c.2071A>T (p.Thr691Ser)
17g.42544021C>ACA399605872NAGLUc.2015C>A (p.Thr672Asn)
c.1353C>A (n.1353C>A)
c.1184C>A (p.Thr395Asn)
c.1016C>A (p.Thr339Asn)
c.2072C>A (p.Thr691Asn)
 dbSNP
17g.42544021C=CA2260530574NAGLUc.2015C= (p.Thr672=)
c.1353C= (n.1353C=)
c.1184C= (p.Thr395=)
c.1016C= (p.Thr339=)
c.2072C= (p.Thr691=)
17g.42544021C>GCA399605874NAGLUc.2015C>G (p.Thr672Ser)
c.1353C>G (n.1353C>G)
c.1184C>G (p.Thr395Ser)
c.1016C>G (p.Thr339Ser)
c.2072C>G (p.Thr691Ser)
 dbSNP
17g.42544021C>TCA399605875NAGLUc.2015C>T (p.Thr672Ile)
c.1353C>T (n.1353C>T)
c.1184C>T (p.Thr395Ile)
c.1016C>T (p.Thr339Ile)
c.2072C>T (p.Thr691Ile)
 ClinVar dbSNP gnomAD v4
17g.42544022C>ACA500217154NAGLUc.2016C>A (p.Thr672=)
c.1354C>A (n.1354C>A)
c.1185C>A (p.Thr395=)
c.1017C>A (p.Thr339=)
c.2073C>A (p.Thr691=)
17g.42544022C=CA2260530575NAGLUc.2016C= (p.Thr672=)
c.1354C= (n.1354C=)
c.1185C= (p.Thr395=)
c.1017C= (p.Thr339=)
c.2073C= (p.Thr691=)
17g.42544022C>GCA500217157NAGLUc.2016C>G (p.Thr672=)
c.1354C>G (n.1354C>G)
c.1185C>G (p.Thr395=)
c.1017C>G (p.Thr339=)
c.2073C>G (p.Thr691=)
17g.42544022C>TCA500217153NAGLUc.2016C>T (p.Thr672=)
c.1354C>T (n.1354C>T)
c.1185C>T (p.Thr395=)
c.1017C>T (p.Thr339=)
c.2073C>T (p.Thr691=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.42544023C>ACA399605877NAGLUc.2017C>A (p.Pro673Thr)
c.1355C>A (n.1355C>A)
c.1186C>A (p.Pro396Thr)
c.1018C>A (p.Pro340Thr)
c.2074C>A (p.Pro692Thr)
17g.42544023C=CA2260530576NAGLUc.2017C= (p.Pro673=)
c.1355C= (n.1355C=)
c.1186C= (p.Pro396=)
c.1018C= (p.Pro340=)
c.2074C= (p.Pro692=)
17g.42544023C>GCA399605879NAGLUc.2017C>G (p.Pro673Ala)
c.1355C>G (n.1355C>G)
c.1186C>G (p.Pro396Ala)
c.1018C>G (p.Pro340Ala)
c.2074C>G (p.Pro692Ala)
17g.42544023C>TCA8577129NAGLUc.2017C>T (p.Pro673Ser)
c.1355C>T (n.1355C>T)
c.1186C>T (p.Pro396Ser)
c.1018C>T (p.Pro340Ser)
c.2074C>T (p.Pro692Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.42544024C>ACA399605882NAGLUc.2018C>A (p.Pro673His)
c.1356C>A (n.1356C>A)
c.1187C>A (p.Pro396His)
c.1019C>A (p.Pro340His)
c.2075C>A (p.Pro692His)
17g.42544024C>GCA399605884NAGLUc.2018C>G (p.Pro673Arg)
c.1356C>G (n.1356C>G)
c.1187C>G (p.Pro396Arg)
c.1019C>G (p.Pro340Arg)
c.2075C>G (p.Pro692Arg)
17g.42544024C>TCA399605885NAGLUc.2018C>T (p.Pro673Leu)
c.1356C>T (n.1356C>T)
c.1187C>T (p.Pro396Leu)
c.1019C>T (p.Pro340Leu)
c.2075C>T (p.Pro692Leu)
17g.42544025T>ACA500217162NAGLUc.2019T>A (p.Pro673=)
c.1357T>A (n.1357T>A)
c.1188T>A (p.Pro396=)
c.1020T>A (p.Pro340=)
c.2076T>A (p.Pro692=)
17g.42544025T>CCA500217160NAGLUc.2019T>C (p.Pro673=)
c.1357T>C (n.1357T>C)
c.1188T>C (p.Pro396=)
c.1020T>C (p.Pro340=)
c.2076T>C (p.Pro692=)
17g.42544025T>GCA500217161NAGLUc.2019T>G (p.Pro673=)
c.1357T>G (n.1357T>G)
c.1188T>G (p.Pro396=)
c.1020T>G (p.Pro340=)
c.2076T>G (p.Pro692=)
17g.42544026C>ACA399605890NAGLUc.2020C>A (p.Arg674Ser)
c.1358C>A (n.1358C>A)
c.1189C>A (p.Arg397Ser)
c.1021C>A (p.Arg341Ser)
c.2077C>A (p.Arg693Ser)
17g.42544026C=CA2260530577NAGLUc.2020C= (p.Arg674=)
c.1358C= (n.1358C=)
c.1189C= (p.Arg397=)
c.1021C= (p.Arg341=)
c.2077C= (p.Arg693=)
17g.42544026C>GCA399605888NAGLUc.2020C>G (p.Arg674Gly)
c.1358C>G (n.1358C>G)
c.1189C>G (p.Arg397Gly)
c.1021C>G (p.Arg341Gly)
c.2077C>G (p.Arg693Gly)
17g.42544026C>TCA8577130NAGLUc.2020C>T (p.Arg674Cys)
c.1358C>T (n.1358C>T)
c.1189C>T (p.Arg397Cys)
c.1021C>T (p.Arg341Cys)
c.2077C>T (p.Arg693Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42544027G>ACA115042NAGLUc.2021G>A (p.Arg674His)
c.1359G>A (n.1359G>A)
c.1190G>A (p.Arg397His)
c.1022G>A (p.Arg341His)
c.2078G>A (p.Arg693His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17g.42544027G>CCA399605895NAGLUc.2021G>C (p.Arg674Pro)
c.1359G>C (n.1359G>C)
c.1190G>C (p.Arg397Pro)
c.1022G>C (p.Arg341Pro)
c.2078G>C (p.Arg693Pro)
17g.42544027G=CA2260530578NAGLUc.2021G= (p.Arg674=)
c.1359G= (n.1359G=)
c.1190G= (p.Arg397=)
c.1022G= (p.Arg341=)
c.2078G= (p.Arg693=)
17g.42544027G>TCA399605893NAGLUc.2021G>T (p.Arg674Leu)
c.1359G>T (n.1359G>T)
c.1190G>T (p.Arg397Leu)
c.1022G>T (p.Arg341Leu)
c.2078G>T (p.Arg693Leu)
 ClinVar dbSNP
17g.42544028C>ACA500217165NAGLUc.2022C>A (p.Arg674=)
c.1360C>A (n.1360C>A)
c.1191C>A (p.Arg397=)
c.1023C>A (p.Arg341=)
c.2079C>A (p.Arg693=)
17g.42544028C>GCA500217166NAGLUc.2022C>G (p.Arg674=)
c.1360C>G (n.1360C>G)
c.1191C>G (p.Arg397=)
c.1023C>G (p.Arg341=)
c.2079C>G (p.Arg693=)
17g.42544028C>TCA500217167NAGLUc.2022C>T (p.Arg674=)
c.1360C>T (n.1360C>T)
c.1191C>T (p.Arg397=)
c.1023C>T (p.Arg341=)
c.2079C>T (p.Arg693=)
 ClinVar dbSNP gnomAD v4
17g.42544029T>ACA399605897NAGLUc.2023T>A (p.Trp675Arg)
c.1361T>A (n.1361T>A)
c.1192T>A (p.Trp398Arg)
c.1024T>A (p.Trp342Arg)
c.2080T>A (p.Trp694Arg)
17g.42544029T>CCA399605901NAGLUc.2023T>C (p.Trp675Arg)
c.1361T>C (n.1361T>C)
c.1192T>C (p.Trp398Arg)
c.1024T>C (p.Trp342Arg)
c.2080T>C (p.Trp694Arg)
 dbSNP gnomAD v4
17g.42544029T>GCA399605898NAGLUc.2023T>G (p.Trp675Gly)
c.1361T>G (n.1361T>G)
c.1192T>G (p.Trp398Gly)
c.1024T>G (p.Trp342Gly)
c.2080T>G (p.Trp694Gly)
17g.42544029T=CA2260530579NAGLUc.2023T= (p.Trp675=)
c.1361T= (n.1361T=)
c.1192T= (p.Trp398=)
c.1024T= (p.Trp342=)
c.2080T= (p.Trp694=)
17g.42544030G>ACA399605903NAGLUc.2024G>A (p.Trp675Ter)
c.1362G>A (n.1362G>A)
c.1193G>A (p.Trp398Ter)
c.1025G>A (p.Trp342Ter)
c.2081G>A (p.Trp694Ter)
 dbSNP gnomAD v2
17g.42544030G>CCA399605905NAGLUc.2024G>C (p.Trp675Ser)
c.1362G>C (n.1362G>C)
c.1193G>C (p.Trp398Ser)
c.1025G>C (p.Trp342Ser)
c.2081G>C (p.Trp694Ser)
17g.42544030G=CA2260530580NAGLUc.2024G= (p.Trp675=)
c.1362G= (n.1362G=)
c.1193G= (p.Trp398=)
c.1025G= (p.Trp342=)
c.2081G= (p.Trp694=)
17g.42544030G>TCA399605907NAGLUc.2024G>T (p.Trp675Leu)
c.1362G>T (n.1362G>T)
c.1193G>T (p.Trp398Leu)
c.1025G>T (p.Trp342Leu)
c.2081G>T (p.Trp694Leu)
17g.42544031G>ACA399605909NAGLUc.2025G>A (p.Trp675Ter)
c.1363G>A (n.1363G>A)
c.1194G>A (p.Trp398Ter)
c.1026G>A (p.Trp342Ter)
c.2082G>A (p.Trp694Ter)
17g.42544031G>CCA399605910NAGLUc.2025G>C (p.Trp675Cys)
c.1363G>C (n.1363G>C)
c.1194G>C (p.Trp398Cys)
c.1026G>C (p.Trp342Cys)
c.2082G>C (p.Trp694Cys)
17g.42544031G>TCA399605912NAGLUc.2025G>T (p.Trp675Cys)
c.1363G>T (n.1363G>T)
c.1194G>T (p.Trp398Cys)
c.1026G>T (p.Trp342Cys)
c.2082G>T (p.Trp694Cys)
17g.42544032C>ACA500217172NAGLUc.2026C>A (p.Arg676=)
c.1364C>A (n.1364C>A)
c.1195C>A (p.Arg399=)
c.1027C>A (p.Arg343=)
c.2083C>A (p.Arg695=)
17g.42544032C=CA2260530581NAGLUc.2026C= (p.Arg676=)
c.1364C= (n.1364C=)
c.1195C= (p.Arg399=)
c.1027C= (p.Arg343=)
c.2083C= (p.Arg695=)
17g.42544032C>GCA399605914NAGLUc.2026C>G (p.Arg676Gly)
c.1364C>G (n.1364C>G)
c.1195C>G (p.Arg399Gly)
c.1027C>G (p.Arg343Gly)
c.2083C>G (p.Arg695Gly)
17g.42544032C>TCA8577131NAGLUc.2026C>T (p.Arg676Trp)
c.1364C>T (n.1364C>T)
c.1195C>T (p.Arg399Trp)
c.1027C>T (p.Arg343Trp)
c.2083C>T (p.Arg695Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42544033G>ACA399605918NAGLUc.2027G>A (p.Arg676Gln)
c.1365G>A (n.1365G>A)
c.1196G>A (p.Arg399Gln)
c.1028G>A (p.Arg343Gln)
c.2084G>A (p.Arg695Gln)
 dbSNP gnomAD v3 gnomAD v4
17g.42544033G>CCA399605919NAGLUc.2027G>C (p.Arg676Pro)
c.1365G>C (n.1365G>C)
c.1196G>C (p.Arg399Pro)
c.1028G>C (p.Arg343Pro)
c.2084G>C (p.Arg695Pro)
 gnomAD v4
17g.42544033G=CA2260530582NAGLUc.2027G= (p.Arg676=)
c.1365G= (n.1365G=)
c.1196G= (p.Arg399=)
c.1028G= (p.Arg343=)
c.2084G= (p.Arg695=)
17g.42544033G>TCA399605921NAGLUc.2027G>T (p.Arg676Leu)
c.1365G>T (n.1365G>T)
c.1196G>T (p.Arg399Leu)
c.1028G>T (p.Arg343Leu)
c.2084G>T (p.Arg695Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.42544034G>ACA500217177NAGLUc.2028G>A (p.Arg676=)
c.1366G>A (n.1366G>A)
c.1197G>A (p.Arg399=)
c.1029G>A (p.Arg343=)
c.2085G>A (p.Arg695=)
 gnomAD v4
17g.42544034G>CCA500217178NAGLUc.2028G>C (p.Arg676=)
c.1366G>C (n.1366G>C)
c.1197G>C (p.Arg399=)
c.1029G>C (p.Arg343=)
c.2085G>C (p.Arg695=)
17g.42544034G>TCA500217174NAGLUc.2028G>T (p.Arg676=)
c.1366G>T (n.1366G>T)
c.1197G>T (p.Arg399=)
c.1029G>T (p.Arg343=)
c.2085G>T (p.Arg695=)
17g.42544035C>ACA399605925NAGLUc.2029C>A (p.Leu677Ile)
c.1367C>A (n.1367C>A)
c.1198C>A (p.Leu400Ile)
c.1030C>A (p.Leu344Ile)
c.2086C>A (p.Leu696Ile)
 dbSNP gnomAD v2
17g.42544035C=CA2260530583NAGLUc.2029C= (p.Leu677=)
c.1367C= (n.1367C=)
c.1198C= (p.Leu400=)
c.1030C= (p.Leu344=)
c.2086C= (p.Leu696=)
17g.42544035C>GCA399605923NAGLUc.2029C>G (p.Leu677Val)
c.1367C>G (n.1367C>G)
c.1198C>G (p.Leu400Val)
c.1030C>G (p.Leu344Val)
c.2086C>G (p.Leu696Val)
17g.42544035C>TCA399605924NAGLUc.2029C>T (p.Leu677Phe)
c.1367C>T (n.1367C>T)
c.1198C>T (p.Leu400Phe)
c.1030C>T (p.Leu344Phe)
c.2086C>T (p.Leu696Phe)
17g.42544036T>ACA399605927NAGLUc.2030T>A (p.Leu677His)
c.1368T>A (n.1368T>A)
c.1199T>A (p.Leu400His)
c.1031T>A (p.Leu344His)
c.2087T>A (p.Leu696His)
17g.42544036T>CCA399605929NAGLUc.2030T>C (p.Leu677Pro)
c.1368T>C (n.1368T>C)
c.1199T>C (p.Leu400Pro)
c.1031T>C (p.Leu344Pro)
c.2087T>C (p.Leu696Pro)
17g.42544036T>GCA399605930NAGLUc.2030T>G (p.Leu677Arg)
c.1368T>G (n.1368T>G)
c.1199T>G (p.Leu400Arg)
c.1031T>G (p.Leu344Arg)
c.2087T>G (p.Leu696Arg)
17g.42544039delCA2637976282NAGLUc.2033del (p.Phe678SerfsTer?)
c.1371del (n.1371del)
c.1202del (p.Phe401SerfsTer?)
c.1034del (p.Phe345SerfsTer?)
c.2090del (p.Phe697SerfsTer?)
 gnomAD v4

Number of alleles fetched