Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.42541067C>ACA500216628NAGLUc.882C>A (p.Leu294=)
c.484C>A
c.360-1961C>A (n.360-1961C>A)
c.51C>A (p.Leu17=)
c.23-1961C>A (n.23-1961C>A)
c.939C>A (p.Leu313=)
17g.42541067C=CA2260529143NAGLUc.882C= (p.Leu294=)
c.484C=
c.360-1961C= (n.360-1961C=)
c.51C= (p.Leu17=)
c.23-1961C= (n.23-1961C=)
c.939C= (p.Leu313=)
17g.42541067C>GCA500216629NAGLUc.882C>G (p.Leu294=)
c.484C>G
c.360-1961C>G (n.360-1961C>G)
c.51C>G (p.Leu17=)
c.23-1961C>G (n.23-1961C>G)
c.939C>G (p.Leu313=)
17g.42541067C>TCA8576894NAGLUc.882C>T (p.Leu294=)
c.484C>T
c.360-1961C>T (n.360-1961C>T)
c.51C>T (p.Leu17=)
c.23-1961C>T (n.23-1961C>T)
c.939C>T (p.Leu313=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.42541068T>ACA399600131NAGLUc.883T>A (p.Phe295Ile)
c.485T>A
c.360-1960T>A (n.360-1960T>A)
c.52T>A (p.Phe18Ile)
c.23-1960T>A (n.23-1960T>A)
c.940T>A (p.Phe314Ile)
17g.42541068T>CCA399600133NAGLUc.883T>C (p.Phe295Leu)
c.485T>C
c.360-1960T>C (n.360-1960T>C)
c.52T>C (p.Phe18Leu)
c.23-1960T>C (n.23-1960T>C)
c.940T>C (p.Phe314Leu)
17g.42541068T>GCA399600132NAGLUc.883T>G (p.Phe295Val)
c.485T>G
c.360-1960T>G (n.360-1960T>G)
c.52T>G (p.Phe18Val)
c.23-1960T>G (n.23-1960T>G)
c.940T>G (p.Phe314Val)
17g.42541069T>ACA399600134NAGLUc.884T>A (p.Phe295Tyr)
c.486T>A
c.360-1959T>A (n.360-1959T>A)
c.53T>A (p.Phe18Tyr)
c.23-1959T>A (n.23-1959T>A)
c.941T>A (p.Phe314Tyr)
17g.42541069T>CCA399600135NAGLUc.884T>C (p.Phe295Ser)
c.486T>C
c.360-1959T>C (n.360-1959T>C)
c.53T>C (p.Phe18Ser)
c.23-1959T>C (n.23-1959T>C)
c.941T>C (p.Phe314Ser)
17g.42541069T>GCA399600136NAGLUc.884T>G (p.Phe295Cys)
c.486T>G
c.360-1959T>G (n.360-1959T>G)
c.53T>G (p.Phe18Cys)
c.23-1959T>G (n.23-1959T>G)
c.941T>G (p.Phe314Cys)
 ClinVar
17g.42541069_42541070delinsTCCA2260529144NAGLUc.884_885delinsTC (p.Phe295=)
c.486_487delinsTC
c.360-1959_360-1958delinsTC (n.360-1959_360-1958delinsTC)
c.53_54delinsTC (p.Phe18=)
c.23-1959_23-1958delinsTC (n.23-1959_23-1958delinsTC)
c.941_942delinsTC (p.Phe314=)
17g.42541070C>ACA399600137NAGLUc.885C>A (p.Phe295Leu)
c.487C>A
c.360-1958C>A (n.360-1958C>A)
c.54C>A (p.Phe18Leu)
c.23-1958C>A (n.23-1958C>A)
c.942C>A (p.Phe314Leu)
17g.42541070C>GCA399600138NAGLUc.885C>G (p.Phe295Leu)
c.487C>G
c.360-1958C>G (n.360-1958C>G)
c.54C>G (p.Phe18Leu)
c.23-1958C>G (n.23-1958C>G)
c.942C>G (p.Phe314Leu)
17g.42541070C>TCA500216632NAGLUc.885C>T (p.Phe295=)
c.487C>T
c.360-1958C>T (n.360-1958C>T)
c.54C>T (p.Phe18=)
c.23-1958C>T (n.23-1958C>T)
c.942C>T (p.Phe314=)
17g.42541071dupCA2637970041NAGLUc.886dup (p.Leu296ProfsTer21)
c.488dup
c.360-1957dup (n.360-1957dup)
c.55dup (p.Leu19ProfsTer21)
c.23-1957dup (n.23-1957dup)
c.943dup (p.Leu315ProfsTer21)
 gnomAD v4
17g.42541070_42541071dupCA2637970042NAGLUc.885_886dup (p.Leu296ProfsTer5)
c.487_488dup
c.360-1958_360-1957dup (n.360-1958_360-1957dup)
c.54_55dup (p.Leu19ProfsTer5)
c.23-1958_23-1957dup (n.23-1958_23-1957dup)
c.942_943dup (p.Leu315ProfsTer5)
 gnomAD v4
17g.42541071delCA8576895NAGLUc.886del (p.Leu296CysfsTer4)
c.488del
c.360-1957del (n.360-1957del)
c.55del (p.Leu19CysfsTer4)
c.23-1957del (n.23-1957del)
c.943del (p.Leu315CysfsTer4)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.42541071C>ACA399600140NAGLUc.886C>A (p.Leu296Met)
c.488C>A
c.360-1957C>A (n.360-1957C>A)
c.55C>A (p.Leu19Met)
c.23-1957C>A (n.23-1957C>A)
c.943C>A (p.Leu315Met)
 ClinVar dbSNP
17g.42541071C=CA2260529145NAGLUc.886C= (p.Leu296=)
c.488C=
c.360-1957C= (n.360-1957C=)
c.55C= (p.Leu19=)
c.23-1957C= (n.23-1957C=)
c.943C= (p.Leu315=)
17g.42541071C>GCA399600139NAGLUc.886C>G (p.Leu296Val)
c.488C>G
c.360-1957C>G (n.360-1957C>G)
c.55C>G (p.Leu19Val)
c.23-1957C>G (n.23-1957C>G)
c.943C>G (p.Leu315Val)
17g.42541071C>TCA500216635NAGLUc.886C>T (p.Leu296=)
c.488C>T
c.360-1957C>T (n.360-1957C>T)
c.55C>T (p.Leu19=)
c.23-1957C>T (n.23-1957C>T)
c.943C>T (p.Leu315=)
 ClinVar gnomAD v4
17g.42541072T>ACA399600141NAGLUc.887T>A (p.Leu296Gln)
c.489T>A
c.360-1956T>A (n.360-1956T>A)
c.56T>A (p.Leu19Gln)
c.23-1956T>A (n.23-1956T>A)
c.944T>A (p.Leu315Gln)
17g.42541072T>CCA399600142NAGLUc.887T>C (p.Leu296Pro)
c.489T>C
c.360-1956T>C (n.360-1956T>C)
c.56T>C (p.Leu19Pro)
c.23-1956T>C (n.23-1956T>C)
c.944T>C (p.Leu315Pro)
17g.42541072T>GCA399600143NAGLUc.887T>G (p.Leu296Arg)
c.489T>G
c.360-1956T>G (n.360-1956T>G)
c.56T>G (p.Leu19Arg)
c.23-1956T>G (n.23-1956T>G)
c.944T>G (p.Leu315Arg)
17g.42541073G>ACA500216638NAGLUc.888G>A (p.Leu296=)
c.490G>A
c.360-1955G>A (n.360-1955G>A)
c.57G>A (p.Leu19=)
c.23-1955G>A (n.23-1955G>A)
c.945G>A (p.Leu315=)
 ClinVar dbSNP
17g.42541073G>CCA500216637NAGLUc.888G>C (p.Leu296=)
c.490G>C
c.360-1955G>C (n.360-1955G>C)
c.57G>C (p.Leu19=)
c.23-1955G>C (n.23-1955G>C)
c.945G>C (p.Leu315=)
17g.42541073G>TCA500216640NAGLUc.888G>T (p.Leu296=)
c.490G>T
c.360-1955G>T (n.360-1955G>T)
c.57G>T (p.Leu19=)
c.23-1955G>T (n.23-1955G>T)
c.945G>T (p.Leu315=)
17g.42541074C>ACA500216641NAGLUc.889C>A (p.Arg297=)
c.491C>A
c.360-1954C>A (n.360-1954C>A)
c.58C>A (p.Arg20=)
c.23-1954C>A (n.23-1954C>A)
c.946C>A (p.Arg316=)
17g.42541074C=CA2260529146NAGLUc.889C= (p.Arg297=)
c.491C=
c.360-1954C= (n.360-1954C=)
c.58C= (p.Arg20=)
c.23-1954C= (n.23-1954C=)
c.946C= (p.Arg316=)
17g.42541074C>GCA399600144NAGLUc.889C>G (p.Arg297Gly)
c.491C>G
c.360-1954C>G (n.360-1954C>G)
c.58C>G (p.Arg20Gly)
c.23-1954C>G (n.23-1954C>G)
c.946C>G (p.Arg316Gly)
17g.42541074C>TCA115045NAGLUc.889C>T (p.Arg297Ter)
c.491C>T
c.360-1954C>T (n.360-1954C>T)
c.58C>T (p.Arg20Ter)
c.23-1954C>T (n.23-1954C>T)
c.946C>T (p.Arg316Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42541075G>ACA8576896NAGLUc.890G>A (p.Arg297Gln)
c.492G>A
c.360-1953G>A (n.360-1953G>A)
c.59G>A (p.Arg20Gln)
c.23-1953G>A (n.23-1953G>A)
c.947G>A (p.Arg316Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42541075G>CCA399600146NAGLUc.890G>C (p.Arg297Pro)
c.492G>C
c.360-1953G>C (n.360-1953G>C)
c.59G>C (p.Arg20Pro)
c.23-1953G>C (n.23-1953G>C)
c.947G>C (p.Arg316Pro)
17g.42541075G=CA2260529147NAGLUc.890G= (p.Arg297=)
c.492G=
c.360-1953G= (n.360-1953G=)
c.59G= (p.Arg20=)
c.23-1953G= (n.23-1953G=)
c.947G= (p.Arg316=)
17g.42541075G>TCA399600145NAGLUc.890G>T (p.Arg297Leu)
c.492G>T
c.360-1953G>T (n.360-1953G>T)
c.59G>T (p.Arg20Leu)
c.23-1953G>T (n.23-1953G>T)
c.947G>T (p.Arg316Leu)
 gnomAD v4
17g.42541076A>CCA500216642NAGLUc.891A>C (p.Arg297=)
c.493A>C
c.360-1952A>C (n.360-1952A>C)
c.60A>C (p.Arg20=)
c.23-1952A>C (n.23-1952A>C)
c.948A>C (p.Arg316=)
17g.42541076A>GCA500216644NAGLUc.891A>G (p.Arg297=)
c.493A>G
c.360-1952A>G (n.360-1952A>G)
c.60A>G (p.Arg20=)
c.23-1952A>G (n.23-1952A>G)
c.948A>G (p.Arg316=)
17g.42541076A>TCA500216643NAGLUc.891A>T (p.Arg297=)
c.493A>T
c.360-1952A>T (n.360-1952A>T)
c.60A>T (p.Arg20=)
c.23-1952A>T (n.23-1952A>T)
c.948A>T (p.Arg316=)
17g.42541077G>ACA399600147NAGLUc.892G>A (p.Glu298Lys)
c.494G>A
c.360-1951G>A (n.360-1951G>A)
c.61G>A (p.Glu21Lys)
c.23-1951G>A (n.23-1951G>A)
c.949G>A (p.Glu317Lys)
17g.42541077G>CCA399600148NAGLUc.892G>C (p.Glu298Gln)
c.494G>C
c.360-1951G>C (n.360-1951G>C)
c.61G>C (p.Glu21Gln)
c.23-1951G>C (n.23-1951G>C)
c.949G>C (p.Glu317Gln)
17g.42541077G>TCA399600149NAGLUc.892G>T (p.Glu298Ter)
c.494G>T
c.360-1951G>T (n.360-1951G>T)
c.61G>T (p.Glu21Ter)
c.23-1951G>T (n.23-1951G>T)
c.949G>T (p.Glu317Ter)
17g.42541078A>CCA399600150NAGLUc.893A>C (p.Glu298Ala)
c.495A>C
c.360-1950A>C (n.360-1950A>C)
c.62A>C (p.Glu21Ala)
c.23-1950A>C (n.23-1950A>C)
c.950A>C (p.Glu317Ala)
17g.42541078A>GCA399600151NAGLUc.893A>G (p.Glu298Gly)
c.495A>G
c.360-1950A>G (n.360-1950A>G)
c.62A>G (p.Glu21Gly)
c.23-1950A>G (n.23-1950A>G)
c.950A>G (p.Glu317Gly)
17g.42541078A>TCA399600152NAGLUc.893A>T (p.Glu298Val)
c.495A>T
c.360-1950A>T (n.360-1950A>T)
c.62A>T (p.Glu21Val)
c.23-1950A>T (n.23-1950A>T)
c.950A>T (p.Glu317Val)
17g.42541079G>ACA8576897NAGLUc.894G>A (p.Glu298=)
c.496G>A
c.360-1949G>A (n.360-1949G>A)
c.63G>A (p.Glu21=)
c.23-1949G>A (n.23-1949G>A)
c.951G>A (p.Glu317=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42541079G>CCA399600153NAGLUc.894G>C (p.Glu298Asp)
c.496G>C
c.360-1949G>C (n.360-1949G>C)
c.63G>C (p.Glu21Asp)
c.23-1949G>C (n.23-1949G>C)
c.951G>C (p.Glu317Asp)
17g.42541079G=CA2260529148NAGLUc.894G= (p.Glu298=)
c.496G=
c.360-1949G= (n.360-1949G=)
c.63G= (p.Glu21=)
c.23-1949G= (n.23-1949G=)
c.951G= (p.Glu317=)
17g.42541079G>TCA399600154NAGLUc.894G>T (p.Glu298Asp)
c.496G>T
c.360-1949G>T (n.360-1949G>T)
c.63G>T (p.Glu21Asp)
c.23-1949G>T (n.23-1949G>T)
c.951G>T (p.Glu317Asp)
17g.42541080C>ACA399600155NAGLUc.895C>A (p.Leu299Met)
c.497C>A
c.360-1948C>A (n.360-1948C>A)
c.64C>A (p.Leu22Met)
c.23-1948C>A (n.23-1948C>A)
c.952C>A (p.Leu318Met)
17g.42541080C>GCA399600156NAGLUc.895C>G (p.Leu299Val)
c.497C>G
c.360-1948C>G (n.360-1948C>G)
c.64C>G (p.Leu22Val)
c.23-1948C>G (n.23-1948C>G)
c.952C>G (p.Leu318Val)
 gnomAD v4
17g.42541080C>TCA500216646NAGLUc.895C>T (p.Leu299=)
c.497C>T
c.360-1948C>T (n.360-1948C>T)
c.64C>T (p.Leu22=)
c.23-1948C>T (n.23-1948C>T)
c.952C>T (p.Leu318=)
17g.42541081T>ACA399600157NAGLUc.896T>A (p.Leu299Gln)
c.498T>A
c.360-1947T>A (n.360-1947T>A)
c.65T>A (p.Leu22Gln)
c.23-1947T>A (n.23-1947T>A)
c.953T>A (p.Leu318Gln)
17g.42541081T>CCA399600159NAGLUc.896T>C (p.Leu299Pro)
c.498T>C
c.360-1947T>C (n.360-1947T>C)
c.65T>C (p.Leu22Pro)
c.23-1947T>C (n.23-1947T>C)
c.953T>C (p.Leu318Pro)
17g.42541081T>GCA399600158NAGLUc.896T>G (p.Leu299Arg)
c.498T>G
c.360-1947T>G (n.360-1947T>G)
c.65T>G (p.Leu22Arg)
c.23-1947T>G (n.23-1947T>G)
c.953T>G (p.Leu318Arg)
17g.42541082G>ACA500216651NAGLUc.897G>A (p.Leu299=)
c.499G>A
c.360-1946G>A (n.360-1946G>A)
c.66G>A (p.Leu22=)
c.23-1946G>A (n.23-1946G>A)
c.954G>A (p.Leu318=)
17g.42541082G>CCA500216652NAGLUc.897G>C (p.Leu299=)
c.499G>C
c.360-1946G>C (n.360-1946G>C)
c.66G>C (p.Leu22=)
c.23-1946G>C (n.23-1946G>C)
c.954G>C (p.Leu318=)
17g.42541082G>TCA500216650NAGLUc.897G>T (p.Leu299=)
c.499G>T
c.360-1946G>T (n.360-1946G>T)
c.66G>T (p.Leu22=)
c.23-1946G>T (n.23-1946G>T)
c.954G>T (p.Leu318=)
 ClinVar dbSNP
17g.42541083A>CCA399600160NAGLUc.898A>C (p.Ile300Leu)
c.500A>C
c.360-1945A>C (n.360-1945A>C)
c.67A>C (p.Ile23Leu)
c.23-1945A>C (n.23-1945A>C)
c.955A>C (p.Ile319Leu)
17g.42541083A>GCA399600161NAGLUc.898A>G (p.Ile300Val)
c.500A>G
c.360-1945A>G (n.360-1945A>G)
c.67A>G (p.Ile23Val)
c.23-1945A>G (n.23-1945A>G)
c.955A>G (p.Ile319Val)
17g.42541083A>TCA399600162NAGLUc.898A>T (p.Ile300Phe)
c.500A>T
c.360-1945A>T (n.360-1945A>T)
c.67A>T (p.Ile23Phe)
c.23-1945A>T (n.23-1945A>T)
c.955A>T (p.Ile319Phe)
17g.42541084T>ACA399600163NAGLUc.899T>A (p.Ile300Asn)
c.501T>A
c.360-1944T>A (n.360-1944T>A)
c.68T>A (p.Ile23Asn)
c.23-1944T>A (n.23-1944T>A)
c.956T>A (p.Ile319Asn)
17g.42541084T>CCA8576898NAGLUc.899T>C (p.Ile300Thr)
c.501T>C
c.360-1944T>C (n.360-1944T>C)
c.68T>C (p.Ile23Thr)
c.23-1944T>C (n.23-1944T>C)
c.956T>C (p.Ile319Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42541084T>GCA399600164NAGLUc.899T>G (p.Ile300Ser)
c.501T>G
c.360-1944T>G (n.360-1944T>G)
c.68T>G (p.Ile23Ser)
c.23-1944T>G (n.23-1944T>G)
c.956T>G (p.Ile319Ser)
 dbSNP gnomAD v2
17g.42541084T=CA2260529149NAGLUc.899T= (p.Ile300=)
c.501T=
c.360-1944T= (n.360-1944T=)
c.68T= (p.Ile23=)
c.23-1944T= (n.23-1944T=)
c.956T= (p.Ile319=)
17g.42541085C>ACA500216653NAGLUc.900C>A (p.Ile300=)
c.502C>A
c.360-1943C>A (n.360-1943C>A)
c.69C>A (p.Ile23=)
c.23-1943C>A (n.23-1943C>A)
c.957C>A (p.Ile319=)
17g.42541085C>GCA399600165NAGLUc.900C>G (p.Ile300Met)
c.502C>G
c.360-1943C>G (n.360-1943C>G)
c.69C>G (p.Ile23Met)
c.23-1943C>G (n.23-1943C>G)
c.957C>G (p.Ile319Met)
 gnomAD v4
17g.42541085C>TCA500216654NAGLUc.900C>T (p.Ile300=)
c.502C>T
c.360-1943C>T (n.360-1943C>T)
c.69C>T (p.Ile23=)
c.23-1943C>T (n.23-1943C>T)
c.957C>T (p.Ile319=)
17g.42541085_42541087delinsCAACA2260529150NAGLUc.900_902delinsCAA (p.Ile300=)
c.502_504delinsCAA
c.360-1943_360-1941delinsCAA (n.360-1943_360-1941delinsCAA)
c.69_71delinsCAA (p.Ile23=)
c.23-1943_23-1941delinsCAA (n.23-1943_23-1941delinsCAA)
c.957_959delinsCAA (p.Ile319=)
17g.42541086A>CCA399600166NAGLUc.901A>C (p.Lys301Gln)
c.503A>C
c.360-1942A>C (n.360-1942A>C)
c.70A>C (p.Lys24Gln)
c.23-1942A>C (n.23-1942A>C)
c.958A>C (p.Lys320Gln)
17g.42541086A>GCA399600167NAGLUc.901A>G (p.Lys301Glu)
c.503A>G
c.360-1942A>G (n.360-1942A>G)
c.70A>G (p.Lys24Glu)
c.23-1942A>G (n.23-1942A>G)
c.958A>G (p.Lys320Glu)
17g.42541086A>TCA399600168NAGLUc.901A>T (p.Lys301Ter)
c.503A>T
c.360-1942A>T (n.360-1942A>T)
c.70A>T (p.Lys24Ter)
c.23-1942A>T (n.23-1942A>T)
c.958A>T (p.Lys320Ter)
 gnomAD v4
17g.42541087_42541088delCA1139665540NAGLUc.902_903del (p.Lys301ArgfsTer15)
c.504_505del
c.360-1941_360-1940del (n.360-1941_360-1940del)
c.71_72del (p.Lys24ArgfsTer15)
c.23-1941_23-1940del (n.23-1941_23-1940del)
c.959_960del (p.Lys320ArgfsTer15)
 ClinVar dbSNP gnomAD v4
17g.42541087A>CCA399600169NAGLUc.902A>C (p.Lys301Thr)
c.504A>C
c.360-1941A>C (n.360-1941A>C)
c.71A>C (p.Lys24Thr)
c.23-1941A>C (n.23-1941A>C)
c.959A>C (p.Lys320Thr)
17g.42541087A>GCA399600170NAGLUc.902A>G (p.Lys301Arg)
c.504A>G
c.360-1941A>G (n.360-1941A>G)
c.71A>G (p.Lys24Arg)
c.23-1941A>G (n.23-1941A>G)
c.959A>G (p.Lys320Arg)
17g.42541087A>TCA399600171NAGLUc.902A>T (p.Lys301Ile)
c.504A>T
c.360-1941A>T (n.360-1941A>T)
c.71A>T (p.Lys24Ile)
c.23-1941A>T (n.23-1941A>T)
c.959A>T (p.Lys320Ile)
17g.42541088A>CCA399600172NAGLUc.903A>C (p.Lys301Asn)
c.505A>C
c.360-1940A>C (n.360-1940A>C)
c.72A>C (p.Lys24Asn)
c.23-1940A>C (n.23-1940A>C)
c.960A>C (p.Lys320Asn)
17g.42541088A>GCA500216658NAGLUc.903A>G (p.Lys301=)
c.505A>G
c.360-1940A>G (n.360-1940A>G)
c.72A>G (p.Lys24=)
c.23-1940A>G (n.23-1940A>G)
c.960A>G (p.Lys320=)
17g.42541088A>TCA399600173NAGLUc.903A>T (p.Lys301Asn)
c.505A>T
c.360-1940A>T (n.360-1940A>T)
c.72A>T (p.Lys24Asn)
c.23-1940A>T (n.23-1940A>T)
c.960A>T (p.Lys320Asn)
17g.42541090_42541091delCA2637970043NAGLUc.905_906del (p.Glu302ValfsTer14)
c.507_508del
c.360-1938_360-1937del (n.360-1938_360-1937del)
c.74_75del (p.Glu25ValfsTer14)
c.23-1938_23-1937del (n.23-1938_23-1937del)
c.962_963del (p.Glu321ValfsTer14)
 gnomAD v4
17g.42541089G>ACA399600174NAGLUc.904G>A (p.Glu302Lys)
c.506G>A
c.360-1939G>A (n.360-1939G>A)
c.73G>A (p.Glu25Lys)
c.23-1939G>A (n.23-1939G>A)
c.961G>A (p.Glu321Lys)
 gnomAD v4
17g.42541089G>CCA399600175NAGLUc.904G>C (p.Glu302Gln)
c.506G>C
c.360-1939G>C (n.360-1939G>C)
c.73G>C (p.Glu25Gln)
c.23-1939G>C (n.23-1939G>C)
c.961G>C (p.Glu321Gln)
17g.42541089G>TCA399600176NAGLUc.904G>T (p.Glu302Ter)
c.506G>T
c.360-1939G>T (n.360-1939G>T)
c.73G>T (p.Glu25Ter)
c.23-1939G>T (n.23-1939G>T)
c.961G>T (p.Glu321Ter)
17g.42541090A>CCA399600177NAGLUc.905A>C (p.Glu302Ala)
c.507A>C
c.360-1938A>C (n.360-1938A>C)
c.74A>C (p.Glu25Ala)
c.23-1938A>C (n.23-1938A>C)
c.962A>C (p.Glu321Ala)
17g.42541090A>GCA399600178NAGLUc.905A>G (p.Glu302Gly)
c.507A>G
c.360-1938A>G (n.360-1938A>G)
c.74A>G (p.Glu25Gly)
c.23-1938A>G (n.23-1938A>G)
c.962A>G (p.Glu321Gly)
17g.42541090A>TCA399600179NAGLUc.905A>T (p.Glu302Val)
c.507A>T
c.360-1938A>T (n.360-1938A>T)
c.74A>T (p.Glu25Val)
c.23-1938A>T (n.23-1938A>T)
c.962A>T (p.Glu321Val)
 gnomAD v4
17g.42541091G>ACA500216662NAGLUc.906G>A (p.Glu302=)
c.508G>A
c.360-1937G>A (n.360-1937G>A)
c.1G>A
c.75G>A (p.Glu25=)
c.23-1937G>A (n.23-1937G>A)
c.963G>A (p.Glu321=)
17g.42541091G>CCA399600180NAGLUc.906G>C (p.Glu302Asp)
c.508G>C
c.360-1937G>C (n.360-1937G>C)
c.1G>C
c.75G>C (p.Glu25Asp)
c.23-1937G>C (n.23-1937G>C)
c.963G>C (p.Glu321Asp)
17g.42541091G>TCA399600181NAGLUc.906G>T (p.Glu302Asp)
c.508G>T
c.360-1937G>T (n.360-1937G>T)
c.1G>T
c.75G>T (p.Glu25Asp)
c.23-1937G>T (n.23-1937G>T)
c.963G>T (p.Glu321Asp)
17g.42541092T>ACA399600182NAGLUc.907T>A (p.Phe303Ile)
c.509T>A
c.360-1936T>A (n.360-1936T>A)
c.2T>A
c.76T>A (p.Phe26Ile)
c.23-1936T>A (n.23-1936T>A)
c.964T>A (p.Phe322Ile)
17g.42541092T>CCA399600183NAGLUc.907T>C (p.Phe303Leu)
c.509T>C
c.360-1936T>C (n.360-1936T>C)
c.2T>C
c.76T>C (p.Phe26Leu)
c.23-1936T>C (n.23-1936T>C)
c.964T>C (p.Phe322Leu)
17g.42541092T>GCA399600184NAGLUc.907T>G (p.Phe303Val)
c.509T>G
c.360-1936T>G (n.360-1936T>G)
c.2T>G
c.76T>G (p.Phe26Val)
c.23-1936T>G (n.23-1936T>G)
c.964T>G (p.Phe322Val)
 gnomAD v4
17g.42541093T>ACA399600186NAGLUc.908T>A (p.Phe303Tyr)
c.510T>A
c.360-1935T>A (n.360-1935T>A)
c.3T>A
c.77T>A (p.Phe26Tyr)
c.23-1935T>A (n.23-1935T>A)
c.965T>A (p.Phe322Tyr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.42541093T>CCA399600187NAGLUc.908T>C (p.Phe303Ser)
c.510T>C
c.360-1935T>C (n.360-1935T>C)
c.3T>C
c.77T>C (p.Phe26Ser)
c.23-1935T>C (n.23-1935T>C)
c.965T>C (p.Phe322Ser)
17g.42541093T>GCA399600185NAGLUc.908T>G (p.Phe303Cys)
c.510T>G
c.360-1935T>G (n.360-1935T>G)
c.3T>G
c.77T>G (p.Phe26Cys)
c.23-1935T>G (n.23-1935T>G)
c.965T>G (p.Phe322Cys)
17g.42541093T=CA2260529151NAGLUc.908T= (p.Phe303=)
c.510T=
c.360-1935T= (n.360-1935T=)
c.3T=
c.77T= (p.Phe26=)
c.23-1935T= (n.23-1935T=)
c.965T= (p.Phe322=)
17g.42541094T>ACA399600189NAGLUc.909T>A (p.Phe303Leu)
c.360-1934T>A (n.360-1934T>A)
c.4T>A
c.78T>A (p.Phe26Leu)
c.23-1934T>A (n.23-1934T>A)
c.966T>A (p.Phe322Leu)
17g.42541094T>CCA8576899NAGLUc.909T>C (p.Phe303=)
c.360-1934T>C (n.360-1934T>C)
c.4T>C
c.78T>C (p.Phe26=)
c.23-1934T>C (n.23-1934T>C)
c.966T>C (p.Phe322=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.42541094T>GCA399600188NAGLUc.909T>G (p.Phe303Leu)
c.360-1934T>G (n.360-1934T>G)
c.4T>G
c.78T>G (p.Phe26Leu)
c.23-1934T>G (n.23-1934T>G)
c.966T>G (p.Phe322Leu)
17g.42541094T=CA2260529152NAGLUc.909T= (p.Phe303=)
c.360-1934T= (n.360-1934T=)
c.4T=
c.78T= (p.Phe26=)
c.23-1934T= (n.23-1934T=)
c.966T= (p.Phe322=)
17g.42541095G>ACA399600190NAGLUc.910G>A (p.Gly304Ser)
c.360-1933G>A (n.360-1933G>A)
c.5G>A
c.79G>A (p.Gly27Ser)
c.23-1933G>A (n.23-1933G>A)
c.967G>A (p.Gly323Ser)
 dbSNP
17g.42541095G>CCA399600191NAGLUc.910G>C (p.Gly304Arg)
c.360-1933G>C (n.360-1933G>C)
c.5G>C
c.79G>C (p.Gly27Arg)
c.23-1933G>C (n.23-1933G>C)
c.967G>C (p.Gly323Arg)
17g.42541095G=CA2260529153NAGLUc.910G= (p.Gly304=)
c.360-1933G= (n.360-1933G=)
c.5G=
c.79G= (p.Gly27=)
c.23-1933G= (n.23-1933G=)
c.967G= (p.Gly323=)
17g.42541095G>TCA399600192NAGLUc.910G>T (p.Gly304Cys)
c.360-1933G>T (n.360-1933G>T)
c.5G>T
c.79G>T (p.Gly27Cys)
c.23-1933G>T (n.23-1933G>T)
c.967G>T (p.Gly323Cys)
17g.42541096delCA2637970044NAGLUc.911del (p.Gly304AlafsTer?)
c.360-1932del (n.360-1932del)
c.6del
c.80del (p.Gly27AlafsTer?)
c.23-1932del (n.23-1932del)
c.968del (p.Gly323AlafsTer?)
 gnomAD v4
17g.42541096G>ACA399600195NAGLUc.911G>A (p.Gly304Asp)
c.360-1932G>A (n.360-1932G>A)
c.6G>A
c.80G>A (p.Gly27Asp)
c.23-1932G>A (n.23-1932G>A)
c.968G>A (p.Gly323Asp)
17g.42541096G>CCA399600194NAGLUc.911G>C (p.Gly304Ala)
c.360-1932G>C (n.360-1932G>C)
c.6G>C
c.80G>C (p.Gly27Ala)
c.23-1932G>C (n.23-1932G>C)
c.968G>C (p.Gly323Ala)
17g.42541096G=CA2260529154NAGLUc.911G= (p.Gly304=)
c.360-1932G= (n.360-1932G=)
c.6G=
c.80G= (p.Gly27=)
c.23-1932G= (n.23-1932G=)
c.968G= (p.Gly323=)
17g.42541096G>TCA399600193NAGLUc.911G>T (p.Gly304Val)
c.360-1932G>T (n.360-1932G>T)
c.6G>T
c.80G>T (p.Gly27Val)
c.23-1932G>T (n.23-1932G>T)
c.968G>T (p.Gly323Val)
 ClinVar dbSNP gnomAD v4
17g.42541097C>ACA500216663NAGLUc.912C>A (p.Gly304=)
c.360-1931C>A (n.360-1931C>A)
c.7C>A
c.81C>A (p.Gly27=)
c.23-1931C>A (n.23-1931C>A)
c.969C>A (p.Gly323=)
17g.42541097C=CA2260529155NAGLUc.912C= (p.Gly304=)
c.360-1931C= (n.360-1931C=)
c.7C=
c.81C= (p.Gly27=)
c.23-1931C= (n.23-1931C=)
c.969C= (p.Gly323=)
17g.42541097C>GCA500216664NAGLUc.912C>G (p.Gly304=)
c.360-1931C>G (n.360-1931C>G)
c.7C>G
c.81C>G (p.Gly27=)
c.23-1931C>G (n.23-1931C>G)
c.969C>G (p.Gly323=)
17g.42541097C>TCA500216665NAGLUc.912C>T (p.Gly304=)
c.360-1931C>T (n.360-1931C>T)
c.7C>T
c.81C>T (p.Gly27=)
c.23-1931C>T (n.23-1931C>T)
c.969C>T (p.Gly323=)
 dbSNP gnomAD v2 gnomAD v4
17g.42541098A>CCA399600196NAGLUc.913A>C (p.Thr305Pro)
c.360-1930A>C (n.360-1930A>C)
c.8A>C
c.82A>C (p.Thr28Pro)
c.23-1930A>C (n.23-1930A>C)
c.970A>C (p.Thr324Pro)
17g.42541098A>GCA399600197NAGLUc.913A>G (p.Thr305Ala)
c.360-1930A>G (n.360-1930A>G)
c.8A>G
c.82A>G (p.Thr28Ala)
c.23-1930A>G (n.23-1930A>G)
c.970A>G (p.Thr324Ala)
17g.42541098A>TCA399600198NAGLUc.913A>T (p.Thr305Ser)
c.360-1930A>T (n.360-1930A>T)
c.8A>T
c.82A>T (p.Thr28Ser)
c.23-1930A>T (n.23-1930A>T)
c.970A>T (p.Thr324Ser)
17g.42541099C>ACA399600199NAGLUc.914C>A (p.Thr305Lys)
c.360-1929C>A (n.360-1929C>A)
c.9C>A
c.83C>A (p.Thr28Lys)
c.23-1929C>A (n.23-1929C>A)
c.971C>A (p.Thr324Lys)
17g.42541099C>GCA399600200NAGLUc.914C>G (p.Thr305Arg)
c.360-1929C>G (n.360-1929C>G)
c.9C>G
c.83C>G (p.Thr28Arg)
c.23-1929C>G (n.23-1929C>G)
c.971C>G (p.Thr324Arg)
17g.42541099C>TCA399600201NAGLUc.914C>T (p.Thr305Ile)
c.360-1929C>T (n.360-1929C>T)
c.9C>T
c.83C>T (p.Thr28Ile)
c.23-1929C>T (n.23-1929C>T)
c.971C>T (p.Thr324Ile)
17g.42541100A=CA2260529156NAGLUc.915A= (p.Thr305=)
c.360-1928A= (n.360-1928A=)
c.10A=
c.84A= (p.Thr28=)
c.23-1928A= (n.23-1928A=)
c.972A= (p.Thr324=)
17g.42541100A>CCA500216666NAGLUc.915A>C (p.Thr305=)
c.360-1928A>C (n.360-1928A>C)
c.10A>C
c.84A>C (p.Thr28=)
c.23-1928A>C (n.23-1928A>C)
c.972A>C (p.Thr324=)
17g.42541100A>GCA500216667NAGLUc.915A>G (p.Thr305=)
c.360-1928A>G (n.360-1928A>G)
c.10A>G
c.84A>G (p.Thr28=)
c.23-1928A>G (n.23-1928A>G)
c.972A>G (p.Thr324=)
 dbSNP gnomAD v3 gnomAD v4
17g.42541100A>TCA500216668NAGLUc.915A>T (p.Thr305=)
c.360-1928A>T (n.360-1928A>T)
c.10A>T
c.84A>T (p.Thr28=)
c.23-1928A>T (n.23-1928A>T)
c.972A>T (p.Thr324=)
17g.42541101G>ACA399600202NAGLUc.916G>A (p.Asp306Asn)
c.360-1927G>A (n.360-1927G>A)
c.11G>A
c.85G>A (p.Asp29Asn)
c.23-1927G>A (n.23-1927G>A)
c.973G>A (p.Asp325Asn)
17g.42541101G>CCA399600204NAGLUc.916G>C (p.Asp306His)
c.360-1927G>C (n.360-1927G>C)
c.11G>C
c.85G>C (p.Asp29His)
c.23-1927G>C (n.23-1927G>C)
c.973G>C (p.Asp325His)
17g.42541101G>TCA399600203NAGLUc.916G>T (p.Asp306Tyr)
c.360-1927G>T (n.360-1927G>T)
c.11G>T
c.85G>T (p.Asp29Tyr)
c.23-1927G>T (n.23-1927G>T)
c.973G>T (p.Asp325Tyr)
17g.42541102A=CA2260529157NAGLUc.917A= (p.Asp306=)
c.360-1926A= (n.360-1926A=)
c.12A=
c.86A= (p.Asp29=)
c.23-1926A= (n.23-1926A=)
c.974A= (p.Asp325=)
17g.42541102A>CCA399600205NAGLUc.917A>C (p.Asp306Ala)
c.360-1926A>C (n.360-1926A>C)
c.12A>C
c.86A>C (p.Asp29Ala)
c.23-1926A>C (n.23-1926A>C)
c.974A>C (p.Asp325Ala)
17g.42541102A>GCA8576900NAGLUc.917A>G (p.Asp306Gly)
c.360-1926A>G (n.360-1926A>G)
c.12A>G
c.86A>G (p.Asp29Gly)
c.23-1926A>G (n.23-1926A>G)
c.974A>G (p.Asp325Gly)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42541102A>TCA399600206NAGLUc.917A>T (p.Asp306Val)
c.360-1926A>T (n.360-1926A>T)
c.12A>T
c.86A>T (p.Asp29Val)
c.23-1926A>T (n.23-1926A>T)
c.974A>T (p.Asp325Val)
17g.42541103C>ACA399600207NAGLUc.918C>A (p.Asp306Glu)
c.360-1925C>A (n.360-1925C>A)
c.13C>A
c.87C>A (p.Asp29Glu)
c.23-1925C>A (n.23-1925C>A)
c.975C>A (p.Asp325Glu)
17g.42541103C>GCA399600208NAGLUc.918C>G (p.Asp306Glu)
c.360-1925C>G (n.360-1925C>G)
c.13C>G
c.87C>G (p.Asp29Glu)
c.23-1925C>G (n.23-1925C>G)
c.975C>G (p.Asp325Glu)
17g.42541103C>TCA500216669NAGLUc.918C>T (p.Asp306=)
c.360-1925C>T (n.360-1925C>T)
c.13C>T
c.87C>T (p.Asp29=)
c.23-1925C>T (n.23-1925C>T)
c.975C>T (p.Asp325=)
17g.42541104C>ACA399600209NAGLUc.919C>A (p.His307Asn)
c.360-1924C>A (n.360-1924C>A)
c.14C>A
c.88C>A (p.His30Asn)
c.23-1924C>A (n.23-1924C>A)
c.976C>A (p.His326Asn)
17g.42541104C>GCA399600210NAGLUc.919C>G (p.His307Asp)
c.360-1924C>G (n.360-1924C>G)
c.14C>G
c.88C>G (p.His30Asp)
c.23-1924C>G (n.23-1924C>G)
c.976C>G (p.His326Asp)
17g.42541104C>TCA399600211NAGLUc.919C>T (p.His307Tyr)
c.360-1924C>T (n.360-1924C>T)
c.14C>T
c.88C>T (p.His30Tyr)
c.23-1924C>T (n.23-1924C>T)
c.976C>T (p.His326Tyr)
17g.42541106_42541107dupCA2637970045NAGLUc.921_922dup (p.Ile308ThrfsTer?)
c.360-1922_360-1921dup (n.360-1922_360-1921dup)
c.16_17dup
c.90_91dup (p.Ile31ThrfsTer?)
c.23-1922_23-1921dup (n.23-1922_23-1921dup)
c.978_979dup (p.Ile327ThrfsTer?)
 gnomAD v4
17g.42541105A>CCA399600212NAGLUc.920A>C (p.His307Pro)
c.360-1923A>C (n.360-1923A>C)
c.15A>C
c.89A>C (p.His30Pro)
c.23-1923A>C (n.23-1923A>C)
c.977A>C (p.His326Pro)
17g.42541105A>GCA399600213NAGLUc.920A>G (p.His307Arg)
c.360-1923A>G (n.360-1923A>G)
c.15A>G
c.89A>G (p.His30Arg)
c.23-1923A>G (n.23-1923A>G)
c.977A>G (p.His326Arg)
17g.42541105A>TCA399600214NAGLUc.920A>T (p.His307Leu)
c.360-1923A>T (n.360-1923A>T)
c.15A>T
c.89A>T (p.His30Leu)
c.23-1923A>T (n.23-1923A>T)
c.977A>T (p.His326Leu)
17g.42541106C>ACA399600216NAGLUc.921C>A (p.His307Gln)
c.360-1922C>A (n.360-1922C>A)
c.16C>A
c.90C>A (p.His30Gln)
c.23-1922C>A (n.23-1922C>A)
c.978C>A (p.His326Gln)
17g.42541106C>GCA399600215NAGLUc.921C>G (p.His307Gln)
c.360-1922C>G (n.360-1922C>G)
c.16C>G
c.90C>G (p.His30Gln)
c.23-1922C>G (n.23-1922C>G)
c.978C>G (p.His326Gln)
17g.42541106C>TCA500216670NAGLUc.921C>T (p.His307=)
c.360-1922C>T (n.360-1922C>T)
c.16C>T
c.90C>T (p.His30=)
c.23-1922C>T (n.23-1922C>T)
c.978C>T (p.His326=)
17g.42541107A=CA2260529158NAGLUc.922A= (p.Ile308=)
c.360-1921A= (n.360-1921A=)
c.17A=
c.91A= (p.Ile31=)
c.23-1921A= (n.23-1921A=)
c.979A= (p.Ile327=)
17g.42541107A>CCA399600217NAGLUc.922A>C (p.Ile308Leu)
c.360-1921A>C (n.360-1921A>C)
c.17A>C
c.91A>C (p.Ile31Leu)
c.23-1921A>C (n.23-1921A>C)
c.979A>C (p.Ile327Leu)
17g.42541107A>GCA399600218NAGLUc.922A>G (p.Ile308Val)
c.360-1921A>G (n.360-1921A>G)
c.17A>G
c.91A>G (p.Ile31Val)
c.23-1921A>G (n.23-1921A>G)
c.979A>G (p.Ile327Val)
 dbSNP gnomAD v2 gnomAD v4
17g.42541107A>TCA399600219NAGLUc.922A>T (p.Ile308Phe)
c.360-1921A>T (n.360-1921A>T)
c.17A>T
c.91A>T (p.Ile31Phe)
c.23-1921A>T (n.23-1921A>T)
c.979A>T (p.Ile327Phe)
17g.42541108T>ACA399600220NAGLUc.923T>A (p.Ile308Asn)
c.360-1920T>A (n.360-1920T>A)
c.18T>A
c.92T>A (p.Ile31Asn)
c.23-1920T>A (n.23-1920T>A)
c.980T>A (p.Ile327Asn)
17g.42541108T>CCA8576901NAGLUc.923T>C (p.Ile308Thr)
c.360-1920T>C (n.360-1920T>C)
c.18T>C
c.92T>C (p.Ile31Thr)
c.23-1920T>C (n.23-1920T>C)
c.980T>C (p.Ile327Thr)
 dbSNP ExAC gnomAD v2
17g.42541108T>GCA399600221NAGLUc.923T>G (p.Ile308Ser)
c.360-1920T>G (n.360-1920T>G)
c.18T>G
c.92T>G (p.Ile31Ser)
c.23-1920T>G (n.23-1920T>G)
c.980T>G (p.Ile327Ser)
17g.42541108T=CA2260529159NAGLUc.923T= (p.Ile308=)
c.360-1920T= (n.360-1920T=)
c.18T=
c.92T= (p.Ile31=)
c.23-1920T= (n.23-1920T=)
c.980T= (p.Ile327=)
17g.42541109C>ACA500216671NAGLUc.924C>A (p.Ile308=)
c.360-1919C>A (n.360-1919C>A)
c.19C>A
c.93C>A (p.Ile31=)
c.23-1919C>A (n.23-1919C>A)
c.981C>A (p.Ile327=)
 COSMIC
17g.42541109C>GCA399600222NAGLUc.924C>G (p.Ile308Met)
c.360-1919C>G (n.360-1919C>G)
c.19C>G
c.93C>G (p.Ile31Met)
c.23-1919C>G (n.23-1919C>G)
c.981C>G (p.Ile327Met)
17g.42541109C>TCA500216672NAGLUc.924C>T (p.Ile308=)
c.360-1919C>T (n.360-1919C>T)
c.19C>T
c.93C>T (p.Ile31=)
c.23-1919C>T (n.23-1919C>T)
c.981C>T (p.Ile327=)
 gnomAD v4
17g.42541110T>ACA399600225NAGLUc.925T>A (p.Tyr309Asn)
c.360-1918T>A (n.360-1918T>A)
c.20T>A
c.94T>A (p.Tyr32Asn)
c.23-1918T>A (n.23-1918T>A)
c.982T>A (p.Tyr328Asn)
17g.42541110T>CCA399600223NAGLUc.925T>C (p.Tyr309His)
c.360-1918T>C (n.360-1918T>C)
c.20T>C
c.94T>C (p.Tyr32His)
c.23-1918T>C (n.23-1918T>C)
c.982T>C (p.Tyr328His)
 ClinVar dbSNP
17g.42541110T>GCA399600224NAGLUc.925T>G (p.Tyr309Asp)
c.360-1918T>G (n.360-1918T>G)
c.20T>G
c.94T>G (p.Tyr32Asp)
c.23-1918T>G (n.23-1918T>G)
c.982T>G (p.Tyr328Asp)
17g.42541111A=CA2260529160NAGLUc.926A= (p.Tyr309=)
c.360-1917A= (n.360-1917A=)
c.21A=
c.95A= (p.Tyr32=)
c.23-1917A= (n.23-1917A=)
c.983A= (p.Tyr328=)
17g.42541111A>CCA399600226NAGLUc.926A>C (p.Tyr309Ser)
c.360-1917A>C (n.360-1917A>C)
c.21A>C
c.95A>C (p.Tyr32Ser)
c.23-1917A>C (n.23-1917A>C)
c.983A>C (p.Tyr328Ser)
17g.42541111A>GCA399600227NAGLUc.926A>G (p.Tyr309Cys)
c.360-1917A>G (n.360-1917A>G)
c.21A>G
c.95A>G (p.Tyr32Cys)
c.23-1917A>G (n.23-1917A>G)
c.983A>G (p.Tyr328Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.42541111A>TCA399600228NAGLUc.926A>T (p.Tyr309Phe)
c.360-1917A>T (n.360-1917A>T)
c.21A>T
c.95A>T (p.Tyr32Phe)
c.23-1917A>T (n.23-1917A>T)
c.983A>T (p.Tyr328Phe)
 ClinVar dbSNP gnomAD v4
17g.42541112T>ACA399600229NAGLUc.927T>A (p.Tyr309Ter)
c.360-1916T>A (n.360-1916T>A)
c.22T>A
c.96T>A (p.Tyr32Ter)
c.23-1916T>A (n.23-1916T>A)
c.984T>A (p.Tyr328Ter)
17g.42541112T>CCA500216674NAGLUc.927T>C (p.Tyr309=)
c.360-1916T>C (n.360-1916T>C)
c.22T>C
c.96T>C (p.Tyr32=)
c.23-1916T>C (n.23-1916T>C)
c.984T>C (p.Tyr328=)
 ClinVar dbSNP gnomAD v4
17g.42541112T>GCA399600230NAGLUc.927T>G (p.Tyr309Ter)
c.360-1916T>G (n.360-1916T>G)
c.22T>G
c.96T>G (p.Tyr32Ter)
c.23-1916T>G (n.23-1916T>G)
c.984T>G (p.Tyr328Ter)
17g.42541112T=CA2260529161NAGLUc.927T= (p.Tyr309=)
c.360-1916T= (n.360-1916T=)
c.22T=
c.96T= (p.Tyr32=)
c.23-1916T= (n.23-1916T=)
c.984T= (p.Tyr328=)
17g.42541113G>ACA399600231NAGLUc.928G>A (p.Gly310Arg)
c.360-1915G>A (n.360-1915G>A)
c.23G>A
c.97G>A (p.Gly33Arg)
c.23-1915G>A (n.23-1915G>A)
c.985G>A (p.Gly329Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.42541113G>CCA399600233NAGLUc.928G>C (p.Gly310Arg)
c.360-1915G>C (n.360-1915G>C)
c.23G>C
c.97G>C (p.Gly33Arg)
c.23-1915G>C (n.23-1915G>C)
c.985G>C (p.Gly329Arg)
17g.42541113G=CA2260529162NAGLUc.928G= (p.Gly310=)
c.360-1915G= (n.360-1915G=)
c.23G=
c.97G= (p.Gly33=)
c.23-1915G= (n.23-1915G=)
c.985G= (p.Gly329=)
17g.42541113G>TCA399600232NAGLUc.928G>T (p.Gly310Trp)
c.360-1915G>T (n.360-1915G>T)
c.23G>T
c.97G>T (p.Gly33Trp)
c.23-1915G>T (n.23-1915G>T)
c.985G>T (p.Gly329Trp)
17g.42541114G>ACA399600234NAGLUc.929G>A (p.Gly310Glu)
c.360-1914G>A (n.360-1914G>A)
c.24G>A
c.98G>A (p.Gly33Glu)
c.23-1914G>A (n.23-1914G>A)
c.986G>A (p.Gly329Glu)
 dbSNP
17g.42541114G>CCA8576903NAGLUc.929G>C (p.Gly310Ala)
c.360-1914G>C (n.360-1914G>C)
c.24G>C
c.98G>C (p.Gly33Ala)
c.23-1914G>C (n.23-1914G>C)
c.986G>C (p.Gly329Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.42541114G=CA2260529163NAGLUc.929G= (p.Gly310=)
c.360-1914G= (n.360-1914G=)
c.24G=
c.98G= (p.Gly33=)
c.23-1914G= (n.23-1914G=)
c.986G= (p.Gly329=)
17g.42541114G>TCA8576902NAGLUc.929G>T (p.Gly310Val)
c.360-1914G>T (n.360-1914G>T)
c.24G>T
c.98G>T (p.Gly33Val)
c.23-1914G>T (n.23-1914G>T)
c.986G>T (p.Gly329Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.42541115G>ACA500216678NAGLUc.930G>A (p.Gly310=)
c.360-1913G>A (n.360-1913G>A)
c.25G>A
c.99G>A (p.Gly33=)
c.23-1913G>A (n.23-1913G>A)
c.987G>A (p.Gly329=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.42541115G>CCA500216680NAGLUc.930G>C (p.Gly310=)
c.360-1913G>C (n.360-1913G>C)
c.25G>C
c.99G>C (p.Gly33=)
c.23-1913G>C (n.23-1913G>C)
c.987G>C (p.Gly329=)
17g.42541115G=CA2260529164NAGLUc.930G= (p.Gly310=)
c.360-1913G= (n.360-1913G=)
c.25G=
c.99G= (p.Gly33=)
c.23-1913G= (n.23-1913G=)
c.987G= (p.Gly329=)
17g.42541115G>TCA500216677NAGLUc.930G>T (p.Gly310=)
c.360-1913G>T (n.360-1913G>T)
c.25G>T
c.99G>T (p.Gly33=)
c.23-1913G>T (n.23-1913G>T)
c.987G>T (p.Gly329=)
17g.42541116G>ACA399600235NAGLUc.931G>A (p.Ala311Thr)
c.360-1912G>A (n.360-1912G>A)
c.26G>A
c.100G>A (p.Ala34Thr)
c.23-1912G>A (n.23-1912G>A)
c.988G>A (p.Ala330Thr)
17g.42541116G>CCA399600236NAGLUc.931G>C (p.Ala311Pro)
c.360-1912G>C (n.360-1912G>C)
c.26G>C
c.100G>C (p.Ala34Pro)
c.23-1912G>C (n.23-1912G>C)
c.988G>C (p.Ala330Pro)
17g.42541116G>TCA399600237NAGLUc.931G>T (p.Ala311Ser)
c.360-1912G>T (n.360-1912G>T)
c.26G>T
c.100G>T (p.Ala34Ser)
c.23-1912G>T (n.23-1912G>T)
c.988G>T (p.Ala330Ser)
17g.42541117C>ACA399600238NAGLUc.932C>A (p.Ala311Asp)
c.360-1911C>A (n.360-1911C>A)
c.27C>A
c.101C>A (p.Ala34Asp)
c.23-1911C>A (n.23-1911C>A)
c.989C>A (p.Ala330Asp)
 dbSNP gnomAD v2 gnomAD v4
17g.42541117C=CA2260529165NAGLUc.932C= (p.Ala311=)
c.360-1911C= (n.360-1911C=)
c.27C=
c.101C= (p.Ala34=)
c.23-1911C= (n.23-1911C=)
c.989C= (p.Ala330=)
17g.42541117C>GCA399600239NAGLUc.932C>G (p.Ala311Gly)
c.360-1911C>G (n.360-1911C>G)
c.27C>G
c.101C>G (p.Ala34Gly)
c.23-1911C>G (n.23-1911C>G)
c.989C>G (p.Ala330Gly)
17g.42541117C>TCA399600240NAGLUc.932C>T (p.Ala311Val)
c.360-1911C>T (n.360-1911C>T)
c.27C>T
c.101C>T (p.Ala34Val)
c.23-1911C>T (n.23-1911C>T)
c.989C>T (p.Ala330Val)
 COSMIC
17g.42541118C>ACA500216683NAGLUc.933C>A (p.Ala311=)
c.360-1910C>A (n.360-1910C>A)
c.28C>A
c.102C>A (p.Ala34=)
c.23-1910C>A (n.23-1910C>A)
c.990C>A (p.Ala330=)
17g.42541118C=CA2260529166NAGLUc.933C= (p.Ala311=)
c.360-1910C= (n.360-1910C=)
c.28C=
c.102C= (p.Ala34=)
c.23-1910C= (n.23-1910C=)
c.990C= (p.Ala330=)
17g.42541118C>GCA145933NAGLUc.933C>G (p.Ala311=)
c.360-1910C>G (n.360-1910C>G)
c.28C>G
c.102C>G (p.Ala34=)
c.23-1910C>G (n.23-1910C>G)
c.990C>G (p.Ala330=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42541118C>TCA8576904NAGLUc.933C>T (p.Ala311=)
c.360-1910C>T (n.360-1910C>T)
c.28C>T
c.102C>T (p.Ala34=)
c.23-1910C>T (n.23-1910C>T)
c.990C>T (p.Ala330=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42541119G>ACA290778699NAGLUc.934G>A (p.Asp312Asn)
c.360-1909G>A (n.360-1909G>A)
c.29G>A
c.103G>A (p.Asp35Asn)
c.23-1909G>A (n.23-1909G>A)
c.991G>A (p.Asp331Asn)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.42541119G>CCA399600242NAGLUc.934G>C (p.Asp312His)
c.360-1909G>C (n.360-1909G>C)
c.29G>C
c.103G>C (p.Asp35His)
c.23-1909G>C (n.23-1909G>C)
c.991G>C (p.Asp331His)
 ClinVar
17g.42541119G=CA2260529167NAGLUc.934G= (p.Asp312=)
c.360-1909G= (n.360-1909G=)
c.29G=
c.103G= (p.Asp35=)
c.23-1909G= (n.23-1909G=)
c.991G= (p.Asp331=)
17g.42541119G>TCA399600241NAGLUc.934G>T (p.Asp312Tyr)
c.360-1909G>T (n.360-1909G>T)
c.29G>T
c.103G>T (p.Asp35Tyr)
c.23-1909G>T (n.23-1909G>T)
c.991G>T (p.Asp331Tyr)
 gnomAD v4
17g.42541120A>CCA399600243NAGLUc.935A>C (p.Asp312Ala)
c.360-1908A>C (n.360-1908A>C)
c.30A>C
c.104A>C (p.Asp35Ala)
c.23-1908A>C (n.23-1908A>C)
c.992A>C (p.Asp331Ala)
 ClinVar
17g.42541120A>GCA399600245NAGLUc.935A>G (p.Asp312Gly)
c.360-1908A>G (n.360-1908A>G)
c.30A>G
c.104A>G (p.Asp35Gly)
c.23-1908A>G (n.23-1908A>G)
c.992A>G (p.Asp331Gly)
 gnomAD v4
17g.42541120A>TCA399600244NAGLUc.935A>T (p.Asp312Val)
c.360-1908A>T (n.360-1908A>T)
c.30A>T
c.104A>T (p.Asp35Val)
c.23-1908A>T (n.23-1908A>T)
c.992A>T (p.Asp331Val)
17g.42541121C>ACA399600246NAGLUc.936C>A (p.Asp312Glu)
c.360-1907C>A (n.360-1907C>A)
c.31C>A
c.105C>A (p.Asp35Glu)
c.23-1907C>A (n.23-1907C>A)
c.993C>A (p.Asp331Glu)
17g.42541121C=CA2260529168NAGLUc.936C= (p.Asp312=)
c.360-1907C= (n.360-1907C=)
c.31C=
c.105C= (p.Asp35=)
c.23-1907C= (n.23-1907C=)
c.993C= (p.Asp331=)
17g.42541121C>GCA399600247NAGLUc.936C>G (p.Asp312Glu)
c.360-1907C>G (n.360-1907C>G)
c.31C>G
c.105C>G (p.Asp35Glu)
c.23-1907C>G (n.23-1907C>G)
c.993C>G (p.Asp331Glu)
 dbSNP gnomAD v2 gnomAD v4
17g.42541121C>TCA500216687NAGLUc.936C>T (p.Asp312=)
c.360-1907C>T (n.360-1907C>T)
c.31C>T
c.105C>T (p.Asp35=)
c.23-1907C>T (n.23-1907C>T)
c.993C>T (p.Asp331=)
17g.42541122A=CA2260529169NAGLUc.937A= (p.Thr313=)
c.360-1906A= (n.360-1906A=)
c.32A=
c.106A= (p.Thr36=)
c.23-1906A= (n.23-1906A=)
c.994A= (p.Thr332=)
17g.42541122A>CCA399600248NAGLUc.937A>C (p.Thr313Pro)
c.360-1906A>C (n.360-1906A>C)
c.32A>C
c.106A>C (p.Thr36Pro)
c.23-1906A>C (n.23-1906A>C)
c.994A>C (p.Thr332Pro)
 dbSNP gnomAD v3 gnomAD v4
17g.42541122A>GCA399600249NAGLUc.937A>G (p.Thr313Ala)
c.360-1906A>G (n.360-1906A>G)
c.32A>G
c.106A>G (p.Thr36Ala)
c.23-1906A>G (n.23-1906A>G)
c.994A>G (p.Thr332Ala)
17g.42541122A>TCA399600250NAGLUc.937A>T (p.Thr313Ser)
c.360-1906A>T (n.360-1906A>T)
c.32A>T
c.106A>T (p.Thr36Ser)
c.23-1906A>T (n.23-1906A>T)
c.994A>T (p.Thr332Ser)
17g.42541123C>ACA399600251NAGLUc.938C>A (p.Thr313Asn)
c.360-1905C>A (n.360-1905C>A)
c.33C>A
c.107C>A (p.Thr36Asn)
c.23-1905C>A (n.23-1905C>A)
c.995C>A (p.Thr332Asn)
17g.42541123C>GCA399600252NAGLUc.938C>G (p.Thr313Ser)
c.360-1905C>G (n.360-1905C>G)
c.33C>G
c.107C>G (p.Thr36Ser)
c.23-1905C>G (n.23-1905C>G)
c.995C>G (p.Thr332Ser)
17g.42541123C>TCA399600253NAGLUc.938C>T (p.Thr313Ile)
c.360-1905C>T (n.360-1905C>T)
c.33C>T
c.107C>T (p.Thr36Ile)
c.23-1905C>T (n.23-1905C>T)
c.995C>T (p.Thr332Ile)
17g.42541124T>ACA500216691NAGLUc.939T>A (p.Thr313=)
c.360-1904T>A (n.360-1904T>A)
c.34T>A
c.108T>A (p.Thr36=)
c.23-1904T>A (n.23-1904T>A)
c.996T>A (p.Thr332=)
 ClinVar
17g.42541124T>CCA500216693NAGLUc.939T>C (p.Thr313=)
c.360-1904T>C (n.360-1904T>C)
c.34T>C
c.108T>C (p.Thr36=)
c.23-1904T>C (n.23-1904T>C)
c.996T>C (p.Thr332=)
 dbSNP gnomAD v4
17g.42541124T>GCA500216692NAGLUc.939T>G (p.Thr313=)
c.360-1904T>G (n.360-1904T>G)
c.34T>G
c.108T>G (p.Thr36=)
c.23-1904T>G (n.23-1904T>G)
c.996T>G (p.Thr332=)
17g.42541124T=CA2260529170NAGLUc.939T= (p.Thr313=)
c.360-1904T= (n.360-1904T=)
c.34T=
c.108T= (p.Thr36=)
c.23-1904T= (n.23-1904T=)
c.996T= (p.Thr332=)
17g.42541126delCA2637970046NAGLUc.941del (p.Phe314SerfsTer25)
c.360-1902del (n.360-1902del)
c.36del
c.110del (p.Phe37SerfsTer25)
c.23-1902del (n.23-1902del)
c.998del (p.Phe333SerfsTer25)
 gnomAD v4
17g.42541125T>ACA399600254NAGLUc.940T>A (p.Phe314Ile)
c.360-1903T>A (n.360-1903T>A)
c.35T>A
c.109T>A (p.Phe37Ile)
c.23-1903T>A (n.23-1903T>A)
c.997T>A (p.Phe333Ile)
17g.42541125T>CCA290778701NAGLUc.940T>C (p.Phe314Leu)
c.360-1903T>C (n.360-1903T>C)
c.35T>C
c.109T>C (p.Phe37Leu)
c.23-1903T>C (n.23-1903T>C)
c.997T>C (p.Phe333Leu)
 dbSNP
17g.42541125T>GCA399600255NAGLUc.940T>G (p.Phe314Val)
c.360-1903T>G (n.360-1903T>G)
c.35T>G
c.109T>G (p.Phe37Val)
c.23-1903T>G (n.23-1903T>G)
c.997T>G (p.Phe333Val)
 ClinVar dbSNP
17g.42541125T=CA2260529171NAGLUc.940T= (p.Phe314=)
c.360-1903T= (n.360-1903T=)
c.35T=
c.109T= (p.Phe37=)
c.23-1903T= (n.23-1903T=)
c.997T= (p.Phe333=)
17g.42541126T>ACA399600256NAGLUc.941T>A (p.Phe314Tyr)
c.360-1902T>A (n.360-1902T>A)
c.36T>A
c.110T>A (p.Phe37Tyr)
c.23-1902T>A (n.23-1902T>A)
c.998T>A (p.Phe333Tyr)
17g.42541126T>CCA399600257NAGLUc.941T>C (p.Phe314Ser)
c.360-1902T>C (n.360-1902T>C)
c.36T>C
c.110T>C (p.Phe37Ser)
c.23-1902T>C (n.23-1902T>C)
c.998T>C (p.Phe333Ser)
 ClinVar dbSNP
17g.42541126T>GCA399600258NAGLUc.941T>G (p.Phe314Cys)
c.360-1902T>G (n.360-1902T>G)
c.36T>G
c.110T>G (p.Phe37Cys)
c.23-1902T>G (n.23-1902T>G)
c.998T>G (p.Phe333Cys)
 dbSNP
17g.42541126T=CA2260529172NAGLUc.941T= (p.Phe314=)
c.360-1902T= (n.360-1902T=)
c.36T=
c.110T= (p.Phe37=)
c.23-1902T= (n.23-1902T=)
c.998T= (p.Phe333=)
17g.42541127delCA2499224330NAGLUc.942del (p.Phe314LeufsTer25)
c.360-1901del (n.360-1901del)
c.37del
c.111del (p.Phe37LeufsTer25)
c.23-1901del (n.23-1901del)
c.999del (p.Phe333LeufsTer25)
 ClinVar dbSNP
17g.42541127C>ACA399600259NAGLUc.942C>A (p.Phe314Leu)
c.360-1901C>A (n.360-1901C>A)
c.37C>A
c.111C>A (p.Phe37Leu)
c.23-1901C>A (n.23-1901C>A)
c.999C>A (p.Phe333Leu)
 gnomAD v4
17g.42541127C=CA2260529173NAGLUc.942C= (p.Phe314=)
c.360-1901C= (n.360-1901C=)
c.37C=
c.111C= (p.Phe37=)
c.23-1901C= (n.23-1901C=)
c.999C= (p.Phe333=)
17g.42541127C>GCA115053NAGLUc.942C>G (p.Phe314Leu)
c.360-1901C>G (n.360-1901C>G)
c.37C>G
c.111C>G (p.Phe37Leu)
c.23-1901C>G (n.23-1901C>G)
c.999C>G (p.Phe333Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.42541127C>TCA500216694NAGLUc.942C>T (p.Phe314=)
c.360-1901C>T (n.360-1901C>T)
c.37C>T
c.111C>T (p.Phe37=)
c.23-1901C>T (n.23-1901C>T)
c.999C>T (p.Phe333=)
17g.42541128A>CCA399600260NAGLUc.943A>C (p.Asn315His)
c.360-1900A>C (n.360-1900A>C)
c.38A>C
c.112A>C (p.Asn38His)
c.23-1900A>C (n.23-1900A>C)
c.1000A>C (p.Asn334His)
17g.42541128A>GCA399600261NAGLUc.943A>G (p.Asn315Asp)
c.360-1900A>G (n.360-1900A>G)
c.38A>G
c.112A>G (p.Asn38Asp)
c.23-1900A>G (n.23-1900A>G)
c.1000A>G (p.Asn334Asp)
17g.42541128A>TCA399600262NAGLUc.943A>T (p.Asn315Tyr)
c.360-1900A>T (n.360-1900A>T)
c.38A>T
c.112A>T (p.Asn38Tyr)
c.23-1900A>T (n.23-1900A>T)
c.1000A>T (p.Asn334Tyr)
17g.42541129dupCA202998NAGLUc.944dup (p.Asn315LysfsTer2)
c.360-1899dup (n.360-1899dup)
c.39dup
c.113dup (p.Asn38LysfsTer2)
c.23-1899dup (n.23-1899dup)
c.1001dup (p.Asn334LysfsTer2)
 ClinVar dbSNP
17g.42541129A=CA2260529174NAGLUc.944A= (p.Asn315=)
c.360-1899A= (n.360-1899A=)
c.39A=
c.113A= (p.Asn38=)
c.23-1899A= (n.23-1899A=)
c.1001A= (p.Asn334=)
17g.42541129A>CCA399600263NAGLUc.944A>C (p.Asn315Thr)
c.360-1899A>C (n.360-1899A>C)
c.39A>C
c.113A>C (p.Asn38Thr)
c.23-1899A>C (n.23-1899A>C)
c.1001A>C (p.Asn334Thr)
17g.42541129A>GCA399600264NAGLUc.944A>G (p.Asn315Ser)
c.360-1899A>G (n.360-1899A>G)
c.39A>G
c.113A>G (p.Asn38Ser)
c.23-1899A>G (n.23-1899A>G)
c.1001A>G (p.Asn334Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.42541129A>TCA399600265NAGLUc.944A>T (p.Asn315Ile)
c.360-1899A>T (n.360-1899A>T)
c.39A>T
c.113A>T (p.Asn38Ile)
c.23-1899A>T (n.23-1899A>T)
c.1001A>T (p.Asn334Ile)
17g.42541130T>ACA399600266NAGLUc.945T>A (p.Asn315Lys)
c.360-1898T>A (n.360-1898T>A)
c.40T>A
c.114T>A (p.Asn38Lys)
c.23-1898T>A (n.23-1898T>A)
c.1002T>A (p.Asn334Lys)
17g.42541130T>CCA500216698NAGLUc.945T>C (p.Asn315=)
c.360-1898T>C (n.360-1898T>C)
c.40T>C
c.114T>C (p.Asn38=)
c.23-1898T>C (n.23-1898T>C)
c.1002T>C (p.Asn334=)
17g.42541130T>GCA399600267NAGLUc.945T>G (p.Asn315Lys)
c.360-1898T>G (n.360-1898T>G)
c.40T>G
c.114T>G (p.Asn38Lys)
c.23-1898T>G (n.23-1898T>G)
c.1002T>G (p.Asn334Lys)
 gnomAD v4
17g.42541131G>ACA399600268NAGLUc.946G>A (p.Glu316Lys)
c.360-1897G>A (n.360-1897G>A)
c.41G>A
c.115G>A (p.Glu39Lys)
c.23-1897G>A (n.23-1897G>A)
c.1003G>A (p.Glu335Lys)
 ClinVar dbSNP
17g.42541131G>CCA399600269NAGLUc.946G>C (p.Glu316Gln)
c.360-1897G>C (n.360-1897G>C)
c.41G>C
c.115G>C (p.Glu39Gln)
c.23-1897G>C (n.23-1897G>C)
c.1003G>C (p.Glu335Gln)
17g.42541131G>TCA399600270NAGLUc.946G>T (p.Glu316Ter)
c.360-1897G>T (n.360-1897G>T)
c.41G>T
c.115G>T (p.Glu39Ter)
c.23-1897G>T (n.23-1897G>T)
c.1003G>T (p.Glu335Ter)
17g.42541132A>CCA399600272NAGLUc.947A>C (p.Glu316Ala)
c.360-1896A>C (n.360-1896A>C)
c.42A>C
c.116A>C (p.Glu39Ala)
c.23-1896A>C (n.23-1896A>C)
c.1004A>C (p.Glu335Ala)
17g.42541132A>GCA399600273NAGLUc.947A>G (p.Glu316Gly)
c.360-1896A>G (n.360-1896A>G)
c.42A>G
c.116A>G (p.Glu39Gly)
c.23-1896A>G (n.23-1896A>G)
c.1004A>G (p.Glu335Gly)
17g.42541132A>TCA399600271NAGLUc.947A>T (p.Glu316Val)
c.360-1896A>T (n.360-1896A>T)
c.42A>T
c.116A>T (p.Glu39Val)
c.23-1896A>T (n.23-1896A>T)
c.1004A>T (p.Glu335Val)
17g.42541133G>ACA500216699NAGLUc.948G>A (p.Glu316=)
c.360-1895G>A (n.360-1895G>A)
c.43G>A
c.117G>A (p.Glu39=)
c.23-1895G>A (n.23-1895G>A)
c.1005G>A (p.Glu335=)
17g.42541133G>CCA399600274NAGLUc.948G>C (p.Glu316Asp)
c.360-1895G>C (n.360-1895G>C)
c.43G>C
c.117G>C (p.Glu39Asp)
c.23-1895G>C (n.23-1895G>C)
c.1005G>C (p.Glu335Asp)
17g.42541133G>TCA399600275NAGLUc.948G>T (p.Glu316Asp)
c.360-1895G>T (n.360-1895G>T)
c.43G>T
c.117G>T (p.Glu39Asp)
c.23-1895G>T (n.23-1895G>T)
c.1005G>T (p.Glu335Asp)
17g.42541134A>CCA399600276NAGLUc.949A>C (p.Met317Leu)
c.360-1894A>C (n.360-1894A>C)
c.44A>C
c.118A>C (p.Met40Leu)
c.23-1894A>C (n.23-1894A>C)
c.1006A>C (p.Met336Leu)
17g.42541134A>GCA399600277NAGLUc.949A>G (p.Met317Val)
c.360-1894A>G (n.360-1894A>G)
c.44A>G
c.118A>G (p.Met40Val)
c.23-1894A>G (n.23-1894A>G)
c.1006A>G (p.Met336Val)
 ClinVar gnomAD v4
17g.42541134A>TCA399600278NAGLUc.949A>T (p.Met317Leu)
c.360-1894A>T (n.360-1894A>T)
c.44A>T
c.118A>T (p.Met40Leu)
c.23-1894A>T (n.23-1894A>T)
c.1006A>T (p.Met336Leu)
17g.42541135T>ACA399600281NAGLUc.950T>A (p.Met317Lys)
c.360-1893T>A (n.360-1893T>A)
c.45T>A
c.119T>A (p.Met40Lys)
c.23-1893T>A (n.23-1893T>A)
c.1007T>A (p.Met336Lys)
17g.42541135T>CCA399600280NAGLUc.950T>C (p.Met317Thr)
c.360-1893T>C (n.360-1893T>C)
c.45T>C
c.119T>C (p.Met40Thr)
c.23-1893T>C (n.23-1893T>C)
c.1007T>C (p.Met336Thr)
17g.42541135T>GCA399600279NAGLUc.950T>G (p.Met317Arg)
c.360-1893T>G (n.360-1893T>G)
c.45T>G
c.119T>G (p.Met40Arg)
c.23-1893T>G (n.23-1893T>G)
c.1007T>G (p.Met336Arg)
17g.42541135T=CA2260529175NAGLUc.950T= (p.Met317=)
c.360-1893T= (n.360-1893T=)
c.45T=
c.119T= (p.Met40=)
c.23-1893T= (n.23-1893T=)
c.1007T= (p.Met336=)
17g.42541135_42541136insAACA626218594NAGLUc.950_951insAA (p.Met317IlefsTer23)
c.360-1893_360-1892insAA (n.360-1893_360-1892insAA)
c.45_46insAA
c.119_120insAA (p.Met40IlefsTer23)
c.23-1893_23-1892insAA (n.23-1893_23-1892insAA)
c.1007_1008insAA (p.Met336IlefsTer23)
 dbSNP gnomAD v2 gnomAD v4
17g.42541136G>ACA399600282NAGLUc.951G>A (p.Met317Ile)
c.360-1892G>A (n.360-1892G>A)
c.46G>A
c.120G>A (p.Met40Ile)
c.23-1892G>A (n.23-1892G>A)
c.1008G>A (p.Met336Ile)
 ClinVar gnomAD v4
17g.42541136G>CCA399600283NAGLUc.951G>C (p.Met317Ile)
c.360-1892G>C (n.360-1892G>C)
c.46G>C
c.120G>C (p.Met40Ile)
c.23-1892G>C (n.23-1892G>C)
c.1008G>C (p.Met336Ile)
 ClinVar
17g.42541136G>TCA399600284NAGLUc.951G>T (p.Met317Ile)
c.360-1892G>T (n.360-1892G>T)
c.46G>T
c.120G>T (p.Met40Ile)
c.23-1892G>T (n.23-1892G>T)
c.1008G>T (p.Met336Ile)
 gnomAD v4
17g.42541137C>ACA399600285NAGLUc.952C>A (p.Gln318Lys)
c.360-1891C>A (n.360-1891C>A)
c.47C>A
c.121C>A (p.Gln41Lys)
c.23-1891C>A (n.23-1891C>A)
c.1009C>A (p.Gln337Lys)
17g.42541137C=CA2260529176NAGLUc.952C= (p.Gln318=)
c.360-1891C= (n.360-1891C=)
c.47C=
c.121C= (p.Gln41=)
c.23-1891C= (n.23-1891C=)
c.1009C= (p.Gln337=)
17g.42541137C>GCA399600286NAGLUc.952C>G (p.Gln318Glu)
c.360-1891C>G (n.360-1891C>G)
c.47C>G
c.121C>G (p.Gln41Glu)
c.23-1891C>G (n.23-1891C>G)
c.1009C>G (p.Gln337Glu)
17g.42541137C>TCA399600287NAGLUc.952C>T (p.Gln318Ter)
c.360-1891C>T (n.360-1891C>T)
c.47C>T
c.121C>T (p.Gln41Ter)
c.23-1891C>T (n.23-1891C>T)
c.1009C>T (p.Gln337Ter)
 dbSNP gnomAD v2
17g.42541138A>CCA399600288NAGLUc.953A>C (p.Gln318Pro)
c.360-1890A>C (n.360-1890A>C)
c.48A>C
c.122A>C (p.Gln41Pro)
c.23-1890A>C (n.23-1890A>C)
c.1010A>C (p.Gln337Pro)
17g.42541138A>GCA399600290NAGLUc.953A>G (p.Gln318Arg)
c.360-1890A>G (n.360-1890A>G)
c.48A>G
c.122A>G (p.Gln41Arg)
c.23-1890A>G (n.23-1890A>G)
c.1010A>G (p.Gln337Arg)
 gnomAD v4
17g.42541138A>TCA399600289NAGLUc.953A>T (p.Gln318Leu)
c.360-1890A>T (n.360-1890A>T)
c.48A>T
c.122A>T (p.Gln41Leu)
c.23-1890A>T (n.23-1890A>T)
c.1010A>T (p.Gln337Leu)
17g.42541138_42541142delCA2573153971NAGLUc.953_957del (p.Gln318ProfsTer17)
c.360-1890_360-1886del (n.360-1890_360-1886del)
c.48_52del
c.122_126del (p.Gln41ProfsTer17)
c.23-1890_23-1886del (n.23-1890_23-1886del)
c.1010_1014del (p.Gln337ProfsTer17)
 ClinVar dbSNP
17g.42541139G>ACA500216704NAGLUc.954G>A (p.Gln318=)
c.360-1889G>A (n.360-1889G>A)
c.49G>A
c.123G>A (p.Gln41=)
c.23-1889G>A (n.23-1889G>A)
c.1011G>A (p.Gln337=)
17g.42541139G>CCA399600291NAGLUc.954G>C (p.Gln318His)
c.360-1889G>C (n.360-1889G>C)
c.49G>C
c.123G>C (p.Gln41His)
c.23-1889G>C (n.23-1889G>C)
c.1011G>C (p.Gln337His)
17g.42541139G>TCA399600292NAGLUc.954G>T (p.Gln318His)
c.360-1889G>T (n.360-1889G>T)
c.49G>T
c.123G>T (p.Gln41His)
c.23-1889G>T (n.23-1889G>T)
c.1011G>T (p.Gln337His)
17g.42541140C>ACA399600293NAGLUc.955C>A (p.Pro319Thr)
c.360-1888C>A (n.360-1888C>A)
c.50C>A
c.124C>A (p.Pro42Thr)
c.23-1888C>A (n.23-1888C>A)
c.1012C>A (p.Pro338Thr)
17g.42541140C>GCA399600294NAGLUc.955C>G (p.Pro319Ala)
c.360-1888C>G (n.360-1888C>G)
c.50C>G
c.124C>G (p.Pro42Ala)
c.23-1888C>G (n.23-1888C>G)
c.1012C>G (p.Pro338Ala)
17g.42541140C>TCA399600295NAGLUc.955C>T (p.Pro319Ser)
c.360-1888C>T (n.360-1888C>T)
c.50C>T
c.124C>T (p.Pro42Ser)
c.23-1888C>T (n.23-1888C>T)
c.1012C>T (p.Pro338Ser)
17g.42541141C>ACA399600296NAGLUc.956C>A (p.Pro319Gln)
c.360-1887C>A (n.360-1887C>A)
c.51C>A
c.125C>A (p.Pro42Gln)
c.23-1887C>A (n.23-1887C>A)
c.1013C>A (p.Pro338Gln)
17g.42541141C>GCA399600297NAGLUc.956C>G (p.Pro319Arg)
c.360-1887C>G (n.360-1887C>G)
c.51C>G
c.125C>G (p.Pro42Arg)
c.23-1887C>G (n.23-1887C>G)
c.1013C>G (p.Pro338Arg)
17g.42541141C>TCA399600298NAGLUc.956C>T (p.Pro319Leu)
c.360-1887C>T (n.360-1887C>T)
c.51C>T
c.125C>T (p.Pro42Leu)
c.23-1887C>T (n.23-1887C>T)
c.1013C>T (p.Pro338Leu)
 ClinVar
17g.42541142A>CCA500216708NAGLUc.957A>C (p.Pro319=)
c.360-1886A>C (n.360-1886A>C)
c.52A>C
c.126A>C (p.Pro42=)
c.23-1886A>C (n.23-1886A>C)
c.1014A>C (p.Pro338=)
17g.42541142A>GCA500216706NAGLUc.957A>G (p.Pro319=)
c.360-1886A>G (n.360-1886A>G)
c.52A>G
c.126A>G (p.Pro42=)
c.23-1886A>G (n.23-1886A>G)
c.1014A>G (p.Pro338=)
17g.42541142A>TCA500216707NAGLUc.957A>T (p.Pro319=)
c.360-1886A>T (n.360-1886A>T)
c.52A>T
c.126A>T (p.Pro42=)
c.23-1886A>T (n.23-1886A>T)
c.1014A>T (p.Pro338=)
 ClinVar dbSNP gnomAD v4
17g.42541143C>ACA399600299NAGLUc.958C>A (p.Pro320Thr)
c.360-1885C>A (n.360-1885C>A)
c.53C>A
c.127C>A (p.Pro43Thr)
c.23-1885C>A (n.23-1885C>A)
c.1015C>A (p.Pro339Thr)
17g.42541143C>GCA399600300NAGLUc.958C>G (p.Pro320Ala)
c.360-1885C>G (n.360-1885C>G)
c.53C>G
c.127C>G (p.Pro43Ala)
c.23-1885C>G (n.23-1885C>G)
c.1015C>G (p.Pro339Ala)
17g.42541143C>TCA399600301NAGLUc.958C>T (p.Pro320Ser)
c.360-1885C>T (n.360-1885C>T)
c.53C>T
c.127C>T (p.Pro43Ser)
c.23-1885C>T (n.23-1885C>T)
c.1015C>T (p.Pro339Ser)
17g.42541144C>ACA399600304NAGLUc.959C>A (p.Pro320His)
c.360-1884C>A (n.360-1884C>A)
c.54C>A
c.128C>A (p.Pro43His)
c.23-1884C>A (n.23-1884C>A)
c.1016C>A (p.Pro339His)
17g.42541144C=CA2260529177NAGLUc.959C= (p.Pro320=)
c.360-1884C= (n.360-1884C=)
c.54C=
c.128C= (p.Pro43=)
c.23-1884C= (n.23-1884C=)
c.1016C= (p.Pro339=)
17g.42541144C>GCA399600303NAGLUc.959C>G (p.Pro320Arg)
c.360-1884C>G (n.360-1884C>G)
c.54C>G
c.128C>G (p.Pro43Arg)
c.23-1884C>G (n.23-1884C>G)
c.1016C>G (p.Pro339Arg)
17g.42541144C>TCA399600302NAGLUc.959C>T (p.Pro320Leu)
c.360-1884C>T (n.360-1884C>T)
c.54C>T
c.128C>T (p.Pro43Leu)
c.23-1884C>T (n.23-1884C>T)
c.1016C>T (p.Pro339Leu)
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.42541145T>ACA500216709NAGLUc.960T>A (p.Pro320=)
c.360-1883T>A (n.360-1883T>A)
c.55T>A
c.129T>A (p.Pro43=)
c.23-1883T>A (n.23-1883T>A)
c.1017T>A (p.Pro339=)
17g.42541145T>CCA500216712NAGLUc.960T>C (p.Pro320=)
c.360-1883T>C (n.360-1883T>C)
c.55T>C
c.129T>C (p.Pro43=)
c.23-1883T>C (n.23-1883T>C)
c.1017T>C (p.Pro339=)
17g.42541145T>GCA500216710NAGLUc.960T>G (p.Pro320=)
c.360-1883T>G (n.360-1883T>G)
c.55T>G
c.129T>G (p.Pro43=)
c.23-1883T>G (n.23-1883T>G)
c.1017T>G (p.Pro339=)
17g.42541146T>ACA399600305NAGLUc.961T>A (p.Ser321Thr)
c.360-1882T>A (n.360-1882T>A)
c.56T>A
c.130T>A (p.Ser44Thr)
c.23-1882T>A (n.23-1882T>A)
c.1018T>A (p.Ser340Thr)
 dbSNP
17g.42541146T>CCA399600306NAGLUc.961T>C (p.Ser321Pro)
c.360-1882T>C (n.360-1882T>C)
c.56T>C
c.130T>C (p.Ser44Pro)
c.23-1882T>C (n.23-1882T>C)
c.1018T>C (p.Ser340Pro)
17g.42541146T>GCA399600307NAGLUc.961T>G (p.Ser321Ala)
c.360-1882T>G (n.360-1882T>G)
c.56T>G
c.130T>G (p.Ser44Ala)
c.23-1882T>G (n.23-1882T>G)
c.1018T>G (p.Ser340Ala)
17g.42541146T=CA2260529178NAGLUc.961T= (p.Ser321=)
c.360-1882T= (n.360-1882T=)
c.56T=
c.130T= (p.Ser44=)
c.23-1882T= (n.23-1882T=)
c.1018T= (p.Ser340=)
17g.42541147C>ACA399600308NAGLUc.962C>A (p.Ser321Tyr)
c.360-1881C>A (n.360-1881C>A)
c.57C>A
c.131C>A (p.Ser44Tyr)
c.23-1881C>A (n.23-1881C>A)
c.1019C>A (p.Ser340Tyr)
17g.42541147C=CA2260529179NAGLUc.962C= (p.Ser321=)
c.360-1881C= (n.360-1881C=)
c.57C=
c.131C= (p.Ser44=)
c.23-1881C= (n.23-1881C=)
c.1019C= (p.Ser340=)
17g.42541147C>GCA399600309NAGLUc.962C>G (p.Ser321Cys)
c.360-1881C>G (n.360-1881C>G)
c.57C>G
c.131C>G (p.Ser44Cys)
c.23-1881C>G (n.23-1881C>G)
c.1019C>G (p.Ser340Cys)
17g.42541147C>TCA399600310NAGLUc.962C>T (p.Ser321Phe)
c.360-1881C>T (n.360-1881C>T)
c.57C>T
c.131C>T (p.Ser44Phe)
c.23-1881C>T (n.23-1881C>T)
c.1019C>T (p.Ser340Phe)
 ClinVar dbSNP
17g.42541148C>ACA8576905NAGLUc.963C>A (p.Ser321=)
c.360-1880C>A (n.360-1880C>A)
c.58C>A
c.132C>A (p.Ser44=)
c.23-1880C>A (n.23-1880C>A)
c.1020C>A (p.Ser340=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.42541148C=CA2260529180NAGLUc.963C= (p.Ser321=)
c.360-1880C= (n.360-1880C=)
c.58C=
c.132C= (p.Ser44=)
c.23-1880C= (n.23-1880C=)
c.1020C= (p.Ser340=)
17g.42541148C>GCA500216589NAGLUc.963C>G (p.Ser321=)
c.360-1880C>G (n.360-1880C>G)
c.58C>G
c.132C>G (p.Ser44=)
c.23-1880C>G (n.23-1880C>G)
c.1020C>G (p.Ser340=)
17g.42541148C>TCA500216590NAGLUc.963C>T (p.Ser321=)
c.360-1880C>T (n.360-1880C>T)
c.58C>T
c.132C>T (p.Ser44=)
c.23-1880C>T (n.23-1880C>T)
c.1020C>T (p.Ser340=)
 dbSNP gnomAD v3 gnomAD v4
17g.42541149T>ACA399600311NAGLUc.964T>A (p.Ser322Thr)
c.360-1879T>A (n.360-1879T>A)
c.59T>A
c.133T>A (p.Ser45Thr)
c.23-1879T>A (n.23-1879T>A)
c.1021T>A (p.Ser341Thr)
17g.42541149T>CCA399600312NAGLUc.964T>C (p.Ser322Pro)
c.360-1879T>C (n.360-1879T>C)
c.59T>C
c.133T>C (p.Ser45Pro)
c.23-1879T>C (n.23-1879T>C)
c.1021T>C (p.Ser341Pro)
17g.42541149T>GCA399600313NAGLUc.964T>G (p.Ser322Ala)
c.360-1879T>G (n.360-1879T>G)
c.59T>G
c.133T>G (p.Ser45Ala)
c.23-1879T>G (n.23-1879T>G)
c.1021T>G (p.Ser341Ala)
17g.42541150C>ACA399600314NAGLUc.965C>A (p.Ser322Ter)
c.360-1878C>A (n.360-1878C>A)
c.60C>A
c.134C>A (p.Ser45Ter)
c.23-1878C>A (n.23-1878C>A)
c.1022C>A (p.Ser341Ter)
17g.42541150C=CA2260529182NAGLUc.965C= (p.Ser322=)
c.360-1878C= (n.360-1878C=)
c.60C=
c.134C= (p.Ser45=)
c.23-1878C= (n.23-1878C=)
c.1022C= (p.Ser341=)
17g.42541150C>GCA399600315NAGLUc.965C>G (p.Ser322Ter)
c.360-1878C>G (n.360-1878C>G)
c.60C>G
c.134C>G (p.Ser45Ter)
c.23-1878C>G (n.23-1878C>G)
c.1022C>G (p.Ser341Ter)
 dbSNP
17g.42541150C>TCA8576906NAGLUc.965C>T (p.Ser322Leu)
c.360-1878C>T (n.360-1878C>T)
c.60C>T
c.134C>T (p.Ser45Leu)
c.23-1878C>T (n.23-1878C>T)
c.1022C>T (p.Ser341Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42541150_42541152delinsCAGCA2260529181NAGLUc.965_967delinsCAG (p.Ser322=)
c.360-1878_360-1876delinsCAG (n.360-1878_360-1876delinsCAG)
c.60_62delinsCAG
c.134_136delinsCAG (p.Ser45=)
c.23-1878_23-1876delinsCAG (n.23-1878_23-1876delinsCAG)
c.1022_1024delinsCAG (p.Ser341=)
17g.42541151A>CCA500216592NAGLUc.966A>C (p.Ser322=)
c.360-1877A>C (n.360-1877A>C)
c.61A>C
c.135A>C (p.Ser45=)
c.23-1877A>C (n.23-1877A>C)
c.1023A>C (p.Ser341=)
 ClinVar
17g.42541151A>GCA500216593NAGLUc.966A>G (p.Ser322=)
c.360-1877A>G (n.360-1877A>G)
c.61A>G
c.135A>G (p.Ser45=)
c.23-1877A>G (n.23-1877A>G)
c.1023A>G (p.Ser341=)
17g.42541151A>TCA500216591NAGLUc.966A>T (p.Ser322=)
c.360-1877A>T (n.360-1877A>T)
c.61A>T
c.135A>T (p.Ser45=)
c.23-1877A>T (n.23-1877A>T)
c.1023A>T (p.Ser341=)
17g.42541153_42541154delCA290778725NAGLUc.968_969del (p.Glu323AlafsTer13)
c.360-1875_360-1874del (n.360-1875_360-1874del)
c.63_64del
c.137_138del (p.Glu46AlafsTer13)
c.23-1875_23-1874del (n.23-1875_23-1874del)
c.1025_1026del (p.Glu342AlafsTer13)
 dbSNP
17g.42541152G>ACA399600318NAGLUc.967G>A (p.Glu323Lys)
c.360-1876G>A (n.360-1876G>A)
c.62G>A
c.136G>A (p.Glu46Lys)
c.23-1876G>A (n.23-1876G>A)
c.1024G>A (p.Glu342Lys)
17g.42541152G>CCA399600317NAGLUc.967G>C (p.Glu323Gln)
c.360-1876G>C (n.360-1876G>C)
c.62G>C
c.136G>C (p.Glu46Gln)
c.23-1876G>C (n.23-1876G>C)
c.1024G>C (p.Glu342Gln)
17g.42541152G>TCA399600316NAGLUc.967G>T (p.Glu323Ter)
c.360-1876G>T (n.360-1876G>T)
c.62G>T
c.136G>T (p.Glu46Ter)
c.23-1876G>T (n.23-1876G>T)
c.1024G>T (p.Glu342Ter)
17g.42541153A>CCA399600319NAGLUc.968A>C (p.Glu323Ala)
c.360-1875A>C (n.360-1875A>C)
c.63A>C
c.137A>C (p.Glu46Ala)
c.23-1875A>C (n.23-1875A>C)
c.1025A>C (p.Glu342Ala)
17g.42541153A>GCA399600320NAGLUc.968A>G (p.Glu323Gly)
c.360-1875A>G (n.360-1875A>G)
c.63A>G
c.137A>G (p.Glu46Gly)
c.23-1875A>G (n.23-1875A>G)
c.1025A>G (p.Glu342Gly)
17g.42541153A>TCA399600321NAGLUc.968A>T (p.Glu323Val)
c.360-1875A>T (n.360-1875A>T)
c.63A>T
c.137A>T (p.Glu46Val)
c.23-1875A>T (n.23-1875A>T)
c.1025A>T (p.Glu342Val)
17g.42541154G>ACA500216596NAGLUc.969G>A (p.Glu323=)
c.360-1874G>A (n.360-1874G>A)
c.64G>A
c.138G>A (p.Glu46=)
c.23-1874G>A (n.23-1874G>A)
c.1026G>A (p.Glu342=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.42541154G>CCA399600322NAGLUc.969G>C (p.Glu323Asp)
c.360-1874G>C (n.360-1874G>C)
c.64G>C
c.138G>C (p.Glu46Asp)
c.23-1874G>C (n.23-1874G>C)
c.1026G>C (p.Glu342Asp)
17g.42541154G=CA2260529183NAGLUc.969G= (p.Glu323=)
c.360-1874G= (n.360-1874G=)
c.64G=
c.138G= (p.Glu46=)
c.23-1874G= (n.23-1874G=)
c.1026G= (p.Glu342=)
17g.42541154G>TCA399600323NAGLUc.969G>T (p.Glu323Asp)
c.360-1874G>T (n.360-1874G>T)
c.64G>T
c.138G>T (p.Glu46Asp)
c.23-1874G>T (n.23-1874G>T)
c.1026G>T (p.Glu342Asp)
 dbSNP
17g.42541155C>ACA399600324NAGLUc.970C>A (p.Pro324Thr)
c.360-1873C>A (n.360-1873C>A)
c.65C>A
c.139C>A (p.Pro47Thr)
c.23-1873C>A (n.23-1873C>A)
c.1027C>A (p.Pro343Thr)
17g.42541155C>GCA399600325NAGLUc.970C>G (p.Pro324Ala)
c.360-1873C>G (n.360-1873C>G)
c.65C>G
c.139C>G (p.Pro47Ala)
c.23-1873C>G (n.23-1873C>G)
c.1027C>G (p.Pro343Ala)
17g.42541155C>TCA399600326NAGLUc.970C>T (p.Pro324Ser)
c.360-1873C>T (n.360-1873C>T)
c.65C>T
c.139C>T (p.Pro47Ser)
c.23-1873C>T (n.23-1873C>T)
c.1027C>T (p.Pro343Ser)
 gnomAD v4
17g.42541156C>ACA399600327NAGLUc.971C>A (p.Pro324His)
c.360-1872C>A (n.360-1872C>A)
c.66C>A
c.140C>A (p.Pro47His)
c.23-1872C>A (n.23-1872C>A)
c.1028C>A (p.Pro343His)
17g.42541156C>GCA399600328NAGLUc.971C>G (p.Pro324Arg)
c.360-1872C>G (n.360-1872C>G)
c.66C>G
c.140C>G (p.Pro47Arg)
c.23-1872C>G (n.23-1872C>G)
c.1028C>G (p.Pro343Arg)
 gnomAD v4
17g.42541156C>TCA399600329NAGLUc.971C>T (p.Pro324Leu)
c.360-1872C>T (n.360-1872C>T)
c.66C>T
c.140C>T (p.Pro47Leu)
c.23-1872C>T (n.23-1872C>T)
c.1028C>T (p.Pro343Leu)
 ClinVar gnomAD v4
17g.42541157C>ACA500216597NAGLUc.972C>A (p.Pro324=)
c.360-1871C>A (n.360-1871C>A)
c.67C>A
c.141C>A (p.Pro47=)
c.23-1871C>A (n.23-1871C>A)
c.1029C>A (p.Pro343=)
17g.42541157C>GCA500216599NAGLUc.972C>G (p.Pro324=)
c.360-1871C>G (n.360-1871C>G)
c.67C>G
c.141C>G (p.Pro47=)
c.23-1871C>G (n.23-1871C>G)
c.1029C>G (p.Pro343=)
17g.42541157C>TCA500216598NAGLUc.972C>T (p.Pro324=)
c.360-1871C>T (n.360-1871C>T)
c.67C>T
c.141C>T (p.Pro47=)
c.23-1871C>T (n.23-1871C>T)
c.1029C>T (p.Pro343=)
17g.42541158T>ACA399600330NAGLUc.973T>A (p.Ser325Thr)
c.360-1870T>A (n.360-1870T>A)
c.68T>A
c.142T>A (p.Ser48Thr)
c.23-1870T>A (n.23-1870T>A)
c.1030T>A (p.Ser344Thr)
17g.42541158T>CCA399600331NAGLUc.973T>C (p.Ser325Pro)
c.360-1870T>C (n.360-1870T>C)
c.68T>C
c.142T>C (p.Ser48Pro)
c.23-1870T>C (n.23-1870T>C)
c.1030T>C (p.Ser344Pro)
17g.42541158T>GCA399600332NAGLUc.973T>G (p.Ser325Ala)
c.360-1870T>G (n.360-1870T>G)
c.68T>G
c.142T>G (p.Ser48Ala)
c.23-1870T>G (n.23-1870T>G)
c.1030T>G (p.Ser344Ala)
17g.42541159C>ACA399600334NAGLUc.974C>A (p.Ser325Tyr)
c.360-1869C>A (n.360-1869C>A)
c.69C>A
c.143C>A (p.Ser48Tyr)
c.23-1869C>A (n.23-1869C>A)
c.1031C>A (p.Ser344Tyr)
17g.42541159C>GCA399600335NAGLUc.974C>G (p.Ser325Cys)
c.360-1869C>G (n.360-1869C>G)
c.69C>G
c.143C>G (p.Ser48Cys)
c.23-1869C>G (n.23-1869C>G)
c.1031C>G (p.Ser344Cys)
 gnomAD v4
17g.42541159C>TCA399600333NAGLUc.974C>T (p.Ser325Phe)
c.360-1869C>T (n.360-1869C>T)
c.69C>T
c.143C>T (p.Ser48Phe)
c.23-1869C>T (n.23-1869C>T)
c.1031C>T (p.Ser344Phe)
 COSMIC
17g.42541160C>ACA500216604NAGLUc.975C>A (p.Ser325=)
c.360-1868C>A (n.360-1868C>A)
c.70C>A
c.144C>A (p.Ser48=)
c.23-1868C>A (n.23-1868C>A)
c.1032C>A (p.Ser344=)
 ClinVar
17g.42541160C=CA2260529184NAGLUc.975C= (p.Ser325=)
c.360-1868C= (n.360-1868C=)
c.70C=
c.144C= (p.Ser48=)
c.23-1868C= (n.23-1868C=)
c.1032C= (p.Ser344=)
17g.42541160C>GCA500216603NAGLUc.975C>G (p.Ser325=)
c.360-1868C>G (n.360-1868C>G)
c.70C>G
c.144C>G (p.Ser48=)
c.23-1868C>G (n.23-1868C>G)
c.1032C>G (p.Ser344=)
17g.42541160C>TCA500216601NAGLUc.975C>T (p.Ser325=)
c.360-1868C>T (n.360-1868C>T)
c.70C>T
c.144C>T (p.Ser48=)
c.23-1868C>T (n.23-1868C>T)
c.1032C>T (p.Ser344=)
 dbSNP gnomAD v2 COSMIC
17g.42541161T>ACA399600336NAGLUc.976T>A (p.Tyr326Asn)
c.360-1867T>A (n.360-1867T>A)
c.71T>A
c.145T>A (p.Tyr49Asn)
c.23-1867T>A (n.23-1867T>A)
c.1033T>A (p.Tyr345Asn)
17g.42541161T>CCA399600337NAGLUc.976T>C (p.Tyr326His)
c.360-1867T>C (n.360-1867T>C)
c.71T>C
c.145T>C (p.Tyr49His)
c.23-1867T>C (n.23-1867T>C)
c.1033T>C (p.Tyr345His)
 dbSNP
17g.42541161T>GCA399600338NAGLUc.976T>G (p.Tyr326Asp)
c.360-1867T>G (n.360-1867T>G)
c.71T>G
c.145T>G (p.Tyr49Asp)
c.23-1867T>G (n.23-1867T>G)
c.1033T>G (p.Tyr345Asp)
17g.42541161T=CA2260529185NAGLUc.976T= (p.Tyr326=)
c.360-1867T= (n.360-1867T=)
c.71T=
c.145T= (p.Tyr49=)
c.23-1867T= (n.23-1867T=)
c.1033T= (p.Tyr345=)
17g.42541162A=CA2260529186NAGLUc.977A= (p.Tyr326=)
c.360-1866A= (n.360-1866A=)
c.72A=
c.146A= (p.Tyr49=)
c.23-1866A= (n.23-1866A=)
c.1034A= (p.Tyr345=)
17g.42541162A>CCA399600339NAGLUc.977A>C (p.Tyr326Ser)
c.360-1866A>C (n.360-1866A>C)
c.72A>C
c.146A>C (p.Tyr49Ser)
c.23-1866A>C (n.23-1866A>C)
c.1034A>C (p.Tyr345Ser)
 dbSNP
17g.42541162A>GCA399600340NAGLUc.977A>G (p.Tyr326Cys)
c.360-1866A>G (n.360-1866A>G)
c.72A>G
c.146A>G (p.Tyr49Cys)
c.23-1866A>G (n.23-1866A>G)
c.1034A>G (p.Tyr345Cys)
17g.42541162A>TCA399600341NAGLUc.977A>T (p.Tyr326Phe)
c.360-1866A>T (n.360-1866A>T)
c.72A>T
c.146A>T (p.Tyr49Phe)
c.23-1866A>T (n.23-1866A>T)
c.1034A>T (p.Tyr345Phe)
17g.42541163C>ACA399600342NAGLUc.978C>A (p.Tyr326Ter)
c.360-1865C>A (n.360-1865C>A)
c.73C>A
c.147C>A (p.Tyr49Ter)
c.23-1865C>A (n.23-1865C>A)
c.1035C>A (p.Tyr345Ter)
17g.42541163C>GCA399600343NAGLUc.978C>G (p.Tyr326Ter)
c.360-1865C>G (n.360-1865C>G)
c.73C>G
c.147C>G (p.Tyr49Ter)
c.23-1865C>G (n.23-1865C>G)
c.1035C>G (p.Tyr345Ter)
17g.42541163C>TCA500216607NAGLUc.978C>T (p.Tyr326=)
c.360-1865C>T (n.360-1865C>T)
c.73C>T
c.147C>T (p.Tyr49=)
c.23-1865C>T (n.23-1865C>T)
c.1035C>T (p.Tyr345=)
17g.42541164C>ACA399600344NAGLUc.979C>A (p.Leu327Ile)
c.360-1864C>A (n.360-1864C>A)
c.74C>A
c.148C>A (p.Leu50Ile)
c.23-1864C>A (n.23-1864C>A)
c.1036C>A (p.Leu346Ile)
17g.42541164C=CA2260529187NAGLUc.979C= (p.Leu327=)
c.360-1864C= (n.360-1864C=)
c.74C=
c.148C= (p.Leu50=)
c.23-1864C= (n.23-1864C=)
c.1036C= (p.Leu346=)
17g.42541164C>GCA399600345NAGLUc.979C>G (p.Leu327Val)
c.360-1864C>G (n.360-1864C>G)
c.74C>G
c.148C>G (p.Leu50Val)
c.23-1864C>G (n.23-1864C>G)
c.1036C>G (p.Leu346Val)
17g.42541164C>TCA8576907NAGLUc.979C>T (p.Leu327Phe)
c.360-1864C>T (n.360-1864C>T)
c.74C>T
c.148C>T (p.Leu50Phe)
c.23-1864C>T (n.23-1864C>T)
c.1036C>T (p.Leu346Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.42541165T>ACA399600348NAGLUc.980T>A (p.Leu327His)
c.360-1863T>A (n.360-1863T>A)
c.75T>A
c.149T>A (p.Leu50His)
c.23-1863T>A (n.23-1863T>A)
c.1037T>A (p.Leu346His)
17g.42541165T>CCA399600347NAGLUc.980T>C (p.Leu327Pro)
c.360-1863T>C (n.360-1863T>C)
c.75T>C
c.149T>C (p.Leu50Pro)
c.23-1863T>C (n.23-1863T>C)
c.1037T>C (p.Leu346Pro)
17g.42541165T>GCA399600346NAGLUc.980T>G (p.Leu327Arg)
c.360-1863T>G (n.360-1863T>G)
c.75T>G
c.149T>G (p.Leu50Arg)
c.23-1863T>G (n.23-1863T>G)
c.1037T>G (p.Leu346Arg)
17g.42541166T>ACA500216609NAGLUc.981T>A (p.Leu327=)
c.360-1862T>A (n.360-1862T>A)
c.76T>A
c.150T>A (p.Leu50=)
c.23-1862T>A (n.23-1862T>A)
c.1038T>A (p.Leu346=)
17g.42541166T>CCA500216611NAGLUc.981T>C (p.Leu327=)
c.360-1862T>C (n.360-1862T>C)
c.76T>C
c.150T>C (p.Leu50=)
c.23-1862T>C (n.23-1862T>C)
c.1038T>C (p.Leu346=)
17g.42541166T>GCA500216612NAGLUc.981T>G (p.Leu327=)
c.360-1862T>G (n.360-1862T>G)
c.76T>G
c.150T>G (p.Leu50=)
c.23-1862T>G (n.23-1862T>G)
c.1038T>G (p.Leu346=)
17g.42541167G>ACA399600349NAGLUc.982G>A (p.Ala328Thr)
c.360-1861G>A (n.360-1861G>A)
c.77G>A
c.151G>A (p.Ala51Thr)
c.23-1861G>A (n.23-1861G>A)
c.1039G>A (p.Ala347Thr)
17g.42541167G>CCA399600350NAGLUc.982G>C (p.Ala328Pro)
c.360-1861G>C (n.360-1861G>C)
c.77G>C
c.151G>C (p.Ala51Pro)
c.23-1861G>C (n.23-1861G>C)
c.1039G>C (p.Ala347Pro)
17g.42541167G>TCA399600351NAGLUc.982G>T (p.Ala328Ser)
c.360-1861G>T (n.360-1861G>T)
c.77G>T
c.151G>T (p.Ala51Ser)
c.23-1861G>T (n.23-1861G>T)
c.1039G>T (p.Ala347Ser)

Number of alleles fetched