Chr Mutation (hg38) CAid Gene Transcript Linkouts
4g.47936509A=CA1455551605CNGA1,NIPAL1c.1973T= (p.Val658=)
c.1985T= (p.Val662=)
c.2192T= (p.Val731=)
n.478+21805A=
n.563+21805A=
c.2210T= (p.Val737=)
4g.47936509A>CCA356823058CNGA1,NIPAL1c.1973T>G (p.Val658Gly)
c.1985T>G (p.Val662Gly)
c.2192T>G (p.Val731Gly)
n.478+21805A>C
n.563+21805A>C
c.2210T>G (p.Val737Gly)
4g.47936509A>GCA2910983CNGA1,NIPAL1c.1973T>C (p.Val658Ala)
c.1985T>C (p.Val662Ala)
c.2192T>C (p.Val731Ala)
n.478+21805A>G
n.563+21805A>G
c.2210T>C (p.Val737Ala)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.47936509A>TCA356823059CNGA1,NIPAL1c.1973T>A (p.Val658Asp)
c.1985T>A (p.Val662Asp)
c.2192T>A (p.Val731Asp)
n.478+21805A>T
n.563+21805A>T
c.2210T>A (p.Val737Asp)
4g.47936510C>ACA356823060CNGA1,NIPAL1c.1972G>T (p.Val658Phe)
c.1984G>T (p.Val662Phe)
c.2191G>T (p.Val731Phe)
n.478+21806C>A
n.563+21806C>A
c.2209G>T (p.Val737Phe)
gnomAD v4
4g.47936510C>GCA356823061CNGA1,NIPAL1c.1972G>C (p.Val658Leu)
c.1984G>C (p.Val662Leu)
c.2191G>C (p.Val731Leu)
n.478+21806C>G
n.563+21806C>G
c.2209G>C (p.Val737Leu)
4g.47936510C>TCA356823062CNGA1,NIPAL1c.1972G>A (p.Val658Ile)
c.1984G>A (p.Val662Ile)
c.2191G>A (p.Val731Ile)
n.478+21806C>T
n.563+21806C>T
c.2209G>A (p.Val737Ile)
gnomAD v4
4g.47936511C>ACA356823063CNGA1,NIPAL1c.1971G>T (p.Lys657Asn)
c.1983G>T (p.Lys661Asn)
c.2190G>T (p.Lys730Asn)
n.478+21807C>A
n.563+21807C>A
c.2208G>T (p.Lys736Asn)
4g.47936511C>GCA356823064CNGA1,NIPAL1c.1971G>C (p.Lys657Asn)
c.1983G>C (p.Lys661Asn)
c.2190G>C (p.Lys730Asn)
n.478+21807C>G
n.563+21807C>G
c.2208G>C (p.Lys736Asn)
4g.47936511C>TCA439248097CNGA1,NIPAL1c.1971G>A (p.Lys657=)
c.1983G>A (p.Lys661=)
c.2190G>A (p.Lys730=)
n.478+21807C>T
n.563+21807C>T
c.2208G>A (p.Lys736=)
4g.47936512T>ACA356823065CNGA1,NIPAL1c.1970A>T (p.Lys657Met)
c.1982A>T (p.Lys661Met)
c.2189A>T (p.Lys730Met)
n.478+21808T>A
n.563+21808T>A
c.2207A>T (p.Lys736Met)
4g.47936512T>CCA356823066CNGA1,NIPAL1c.1970A>G (p.Lys657Arg)
c.1982A>G (p.Lys661Arg)
c.2189A>G (p.Lys730Arg)
n.478+21808T>C
n.563+21808T>C
c.2207A>G (p.Lys736Arg)
4g.47936512T>GCA356823067CNGA1,NIPAL1c.1970A>C (p.Lys657Thr)
c.1982A>C (p.Lys661Thr)
c.2189A>C (p.Lys730Thr)
n.478+21808T>G
n.563+21808T>G
c.2207A>C (p.Lys736Thr)
4g.47936513T>ACA356823069CNGA1,NIPAL1c.1969A>T (p.Lys657Ter)
c.1981A>T (p.Lys661Ter)
c.2188A>T (p.Lys730Ter)
n.478+21809T>A
n.563+21809T>A
c.2206A>T (p.Lys736Ter)
4g.47936513T>CCA96687830CNGA1,NIPAL1c.1969A>G (p.Lys657Glu)
c.1981A>G (p.Lys661Glu)
c.2188A>G (p.Lys730Glu)
n.478+21809T>C
n.563+21809T>C
c.2206A>G (p.Lys736Glu)
ClinVar dbSNP gnomAD v4 COSMIC
4g.47936513T>GCA356823068CNGA1,NIPAL1c.1969A>C (p.Lys657Gln)
c.1981A>C (p.Lys661Gln)
c.2188A>C (p.Lys730Gln)
n.478+21809T>G
n.563+21809T>G
c.2206A>C (p.Lys736Gln)
dbSNP gnomAD v3 gnomAD v4
4g.47936513T=CA1455551606CNGA1,NIPAL1c.1969A= (p.Lys657=)
c.1981A= (p.Lys661=)
c.2188A= (p.Lys730=)
n.478+21809T=
n.563+21809T=
c.2206A= (p.Lys736=)
4g.47936514G>ACA439248103CNGA1,NIPAL1c.1968C>T (p.Thr656=)
c.1980C>T (p.Thr660=)
c.2187C>T (p.Thr729=)
n.478+21810G>A
n.563+21810G>A
c.2205C>T (p.Thr735=)
dbSNP gnomAD v4 COSMIC
4g.47936514G>CCA439248104CNGA1,NIPAL1c.1968C>G (p.Thr656=)
c.1980C>G (p.Thr660=)
c.2187C>G (p.Thr729=)
n.478+21810G>C
n.563+21810G>C
c.2205C>G (p.Thr735=)
4g.47936514G=CA1455551607CNGA1,NIPAL1c.1968C= (p.Thr656=)
c.1980C= (p.Thr660=)
c.2187C= (p.Thr729=)
n.478+21810G=
n.563+21810G=
c.2205C= (p.Thr735=)
4g.47936514G>TCA439248107CNGA1,NIPAL1c.1968C>A (p.Thr656=)
c.1980C>A (p.Thr660=)
c.2187C>A (p.Thr729=)
n.478+21810G>T
n.563+21810G>T
c.2205C>A (p.Thr735=)
dbSNP gnomAD v2 gnomAD v4
4g.47936514_47936515insTTACA2578081537CNGA1,NIPAL1c.1967_1968insTAA (p.Thr656_Lys657insAsn)
c.1979_1980insTAA (p.Thr660_Lys661insAsn)
c.2186_2187insTAA (p.Thr729_Lys730insAsn)
n.478+21810_478+21811insTTA
n.563+21810_563+21811insTTA
c.2204_2205insTAA (p.Thr735_Lys736insAsn)
4g.47936515G>ACA2910984CNGA1,NIPAL1c.1967C>T (p.Thr656Ile)
c.1979C>T (p.Thr660Ile)
c.2186C>T (p.Thr729Ile)
n.478+21811G>A
n.563+21811G>A
c.2204C>T (p.Thr735Ile)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.47936515G>CCA356823070CNGA1,NIPAL1c.1967C>G (p.Thr656Ser)
c.1979C>G (p.Thr660Ser)
c.2186C>G (p.Thr729Ser)
n.478+21811G>C
n.563+21811G>C
c.2204C>G (p.Thr735Ser)
4g.47936515G=CA1455551608CNGA1,NIPAL1c.1967C= (p.Thr656=)
c.1979C= (p.Thr660=)
c.2186C= (p.Thr729=)
n.478+21811G=
n.563+21811G=
c.2204C= (p.Thr735=)
4g.47936515G>TCA356823071CNGA1,NIPAL1c.1967C>A (p.Thr656Asn)
c.1979C>A (p.Thr660Asn)
c.2186C>A (p.Thr729Asn)
n.478+21811G>T
n.563+21811G>T
c.2204C>A (p.Thr735Asn)
gnomAD v4 COSMIC
4g.47936516T>ACA356823072CNGA1,NIPAL1c.1966A>T (p.Thr656Ser)
c.1978A>T (p.Thr660Ser)
c.2185A>T (p.Thr729Ser)
n.478+21812T>A
n.563+21812T>A
c.2203A>T (p.Thr735Ser)
4g.47936516T>CCA356823073CNGA1,NIPAL1c.1966A>G (p.Thr656Ala)
c.1978A>G (p.Thr660Ala)
c.2185A>G (p.Thr729Ala)
n.478+21812T>C
n.563+21812T>C
c.2203A>G (p.Thr735Ala)
4g.47936516T>GCA356823074CNGA1,NIPAL1c.1966A>C (p.Thr656Pro)
c.1978A>C (p.Thr660Pro)
c.2185A>C (p.Thr729Pro)
n.478+21812T>G
n.563+21812T>G
c.2203A>C (p.Thr735Pro)
COSMIC COSMIC
4g.47936517T>ACA356823075CNGA1,NIPAL1c.1965A>T (p.Leu655Phe)
c.1977A>T (p.Leu659Phe)
c.2184A>T (p.Leu728Phe)
n.478+21813T>A
n.563+21813T>A
c.2202A>T (p.Leu734Phe)
4g.47936517T>CCA439248112CNGA1,NIPAL1c.1965A>G (p.Leu655=)
c.1977A>G (p.Leu659=)
c.2184A>G (p.Leu728=)
n.478+21813T>C
n.563+21813T>C
c.2202A>G (p.Leu734=)
4g.47936517T>GCA356823076CNGA1,NIPAL1c.1965A>C (p.Leu655Phe)
c.1977A>C (p.Leu659Phe)
c.2184A>C (p.Leu728Phe)
n.478+21813T>G
n.563+21813T>G
c.2202A>C (p.Leu734Phe)
4g.47936518A>CCA356823077CNGA1,NIPAL1c.1964T>G (p.Leu655Ter)
c.1976T>G (p.Leu659Ter)
c.2183T>G (p.Leu728Ter)
n.478+21814A>C
n.563+21814A>C
c.2201T>G (p.Leu734Ter)
4g.47936518A>GCA356823078CNGA1,NIPAL1c.1964T>C (p.Leu655Ser)
c.1976T>C (p.Leu659Ser)
c.2183T>C (p.Leu728Ser)
n.478+21814A>G
n.563+21814A>G
c.2201T>C (p.Leu734Ser)
4g.47936518A>TCA356823079CNGA1,NIPAL1c.1964T>A (p.Leu655Ter)
c.1976T>A (p.Leu659Ter)
c.2183T>A (p.Leu728Ter)
n.478+21814A>T
n.563+21814A>T
c.2201T>A (p.Leu734Ter)
4g.47936519A>CCA356823080CNGA1,NIPAL1c.1963T>G (p.Leu655Val)
c.1975T>G (p.Leu659Val)
c.2182T>G (p.Leu728Val)
n.478+21815A>C
n.563+21815A>C
c.2200T>G (p.Leu734Val)
4g.47936519A>GCA439248115CNGA1,NIPAL1c.1963T>C (p.Leu655=)
c.1975T>C (p.Leu659=)
c.2182T>C (p.Leu728=)
n.478+21815A>G
n.563+21815A>G
c.2200T>C (p.Leu734=)
4g.47936519A>TCA356823081CNGA1,NIPAL1c.1963T>A (p.Leu655Ile)
c.1975T>A (p.Leu659Ile)
c.2182T>A (p.Leu728Ile)
n.478+21815A>T
n.563+21815A>T
c.2200T>A (p.Leu734Ile)
4g.47936520T>ACA356823083CNGA1,NIPAL1c.1962A>T (p.Arg654Ser)
c.1974A>T (p.Arg658Ser)
c.2181A>T (p.Arg727Ser)
n.478+21816T>A
n.563+21816T>A
c.2199A>T (p.Arg733Ser)
4g.47936520T>CCA439248116CNGA1,NIPAL1c.1962A>G (p.Arg654=)
c.1974A>G (p.Arg658=)
c.2181A>G (p.Arg727=)
n.478+21816T>C
n.563+21816T>C
c.2199A>G (p.Arg733=)
gnomAD v4
4g.47936520T>GCA356823082CNGA1,NIPAL1c.1962A>C (p.Arg654Ser)
c.1974A>C (p.Arg658Ser)
c.2181A>C (p.Arg727Ser)
n.478+21816T>G
n.563+21816T>G
c.2199A>C (p.Arg733Ser)
4g.47936521C>ACA356823084CNGA1,NIPAL1c.1961G>T (p.Arg654Ile)
c.1973G>T (p.Arg658Ile)
c.2180G>T (p.Arg727Ile)
n.478+21817C>A
n.563+21817C>A
c.2198G>T (p.Arg733Ile)
COSMIC
4g.47936521C=CA1455551609CNGA1,NIPAL1c.1961G= (p.Arg654=)
c.1973G= (p.Arg658=)
c.2180G= (p.Arg727=)
n.478+21817C=
n.563+21817C=
c.2198G= (p.Arg733=)
4g.47936521C>GCA2910985CNGA1,NIPAL1c.1961G>C (p.Arg654Thr)
c.1973G>C (p.Arg658Thr)
c.2180G>C (p.Arg727Thr)
n.478+21817C>G
n.563+21817C>G
c.2198G>C (p.Arg733Thr)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.47936521C>TCA356823085CNGA1,NIPAL1c.1961G>A (p.Arg654Lys)
c.1973G>A (p.Arg658Lys)
c.2180G>A (p.Arg727Lys)
n.478+21817C>T
n.563+21817C>T
c.2198G>A (p.Arg733Lys)
4g.47936522T>ACA356823086CNGA1,NIPAL1c.1960A>T (p.Arg654Ter)
c.1972A>T (p.Arg658Ter)
c.2179A>T (p.Arg727Ter)
n.478+21818T>A
n.563+21818T>A
c.2197A>T (p.Arg733Ter)
4g.47936522T>CCA356823087CNGA1,NIPAL1c.1960A>G (p.Arg654Gly)
c.1972A>G (p.Arg658Gly)
c.2179A>G (p.Arg727Gly)
n.478+21818T>C
n.563+21818T>C
c.2197A>G (p.Arg733Gly)
gnomAD v4
4g.47936522T>GCA439248119CNGA1,NIPAL1c.1960A>C (p.Arg654=)
c.1972A>C (p.Arg658=)
c.2179A>C (p.Arg727=)
n.478+21818T>G
n.563+21818T>G
c.2197A>C (p.Arg733=)
4g.47936524delCA2573320676CNGA1,NIPAL1c.1960del (p.Arg654AspfsTer2)
c.1972del (p.Arg658AspfsTer2)
c.2179del (p.Arg727AspfsTer2)
n.478+21820del
n.563+21820del
c.2197del (p.Arg733AspfsTer2)
ClinVar
4g.47936523T>ACA356823088CNGA1,NIPAL1c.1959A>T (p.Gln653His)
c.1971A>T (p.Gln657His)
c.2178A>T (p.Gln726His)
n.478+21819T>A
n.563+21819T>A
c.2196A>T (p.Gln732His)
4g.47936523T>CCA439248120CNGA1,NIPAL1c.1959A>G (p.Gln653=)
c.1971A>G (p.Gln657=)
c.2178A>G (p.Gln726=)
n.478+21819T>C
n.563+21819T>C
c.2196A>G (p.Gln732=)
gnomAD v4
4g.47936523T>GCA356823089CNGA1,NIPAL1c.1959A>C (p.Gln653His)
c.1971A>C (p.Gln657His)
c.2178A>C (p.Gln726His)
n.478+21819T>G
n.563+21819T>G
c.2196A>C (p.Gln732His)
dbSNP gnomAD v2 gnomAD v4
4g.47936523T=CA1455551610CNGA1,NIPAL1c.1959A= (p.Gln653=)
c.1971A= (p.Gln657=)
c.2178A= (p.Gln726=)
n.478+21819T=
n.563+21819T=
c.2196A= (p.Gln732=)
4g.47936524T>ACA356823090CNGA1,NIPAL1c.1958A>T (p.Gln653Leu)
c.1970A>T (p.Gln657Leu)
c.2177A>T (p.Gln726Leu)
n.478+21820T>A
n.563+21820T>A
c.2195A>T (p.Gln732Leu)
4g.47936524T>CCA356823091CNGA1,NIPAL1c.1958A>G (p.Gln653Arg)
c.1970A>G (p.Gln657Arg)
c.2177A>G (p.Gln726Arg)
n.478+21820T>C
n.563+21820T>C
c.2195A>G (p.Gln732Arg)
4g.47936524T>GCA356823092CNGA1,NIPAL1c.1958A>C (p.Gln653Pro)
c.1970A>C (p.Gln657Pro)
c.2177A>C (p.Gln726Pro)
n.478+21820T>G
n.563+21820T>G
c.2195A>C (p.Gln732Pro)
4g.47936525G>ACA2910986CNGA1,NIPAL1c.1957C>T (p.Gln653Ter)
c.1969C>T (p.Gln657Ter)
c.2176C>T (p.Gln726Ter)
n.478+21821G>A
n.563+21821G>A
c.2194C>T (p.Gln732Ter)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.47936525G>CCA356823093CNGA1,NIPAL1c.1957C>G (p.Gln653Glu)
c.1969C>G (p.Gln657Glu)
c.2176C>G (p.Gln726Glu)
n.478+21821G>C
n.563+21821G>C
c.2194C>G (p.Gln732Glu)
4g.47936525G=CA1455551611CNGA1,NIPAL1c.1957C= (p.Gln653=)
c.1969C= (p.Gln657=)
c.2176C= (p.Gln726=)
n.478+21821G=
n.563+21821G=
c.2194C= (p.Gln732=)
4g.47936525G>TCA356823094CNGA1,NIPAL1c.1957C>A (p.Gln653Lys)
c.1969C>A (p.Gln657Lys)
c.2176C>A (p.Gln726Lys)
n.478+21821G>T
n.563+21821G>T
c.2194C>A (p.Gln732Lys)
4g.47936526T>ACA356823095CNGA1,NIPAL1c.1956A>T (p.Lys652Asn)
c.1968A>T (p.Lys656Asn)
c.2175A>T (p.Lys725Asn)
n.478+21822T>A
n.563+21822T>A
c.2193A>T (p.Lys731Asn)
4g.47936526T>CCA439248127CNGA1,NIPAL1c.1956A>G (p.Lys652=)
c.1968A>G (p.Lys656=)
c.2175A>G (p.Lys725=)
n.478+21822T>C
n.563+21822T>C
c.2193A>G (p.Lys731=)
4g.47936526T>GCA356823096CNGA1,NIPAL1c.1956A>C (p.Lys652Asn)
c.1968A>C (p.Lys656Asn)
c.2175A>C (p.Lys725Asn)
n.478+21822T>G
n.563+21822T>G
c.2193A>C (p.Lys731Asn)
4g.47936527T>ACA356823097CNGA1,NIPAL1c.1955A>T (p.Lys652Ile)
c.1967A>T (p.Lys656Ile)
c.2174A>T (p.Lys725Ile)
n.478+21823T>A
n.563+21823T>A
c.2192A>T (p.Lys731Ile)
dbSNP
4g.47936527T>CCA356823098CNGA1,NIPAL1c.1955A>G (p.Lys652Arg)
c.1967A>G (p.Lys656Arg)
c.2174A>G (p.Lys725Arg)
n.478+21823T>C
n.563+21823T>C
c.2192A>G (p.Lys731Arg)
4g.47936527T>GCA356823099CNGA1,NIPAL1c.1955A>C (p.Lys652Thr)
c.1967A>C (p.Lys656Thr)
c.2174A>C (p.Lys725Thr)
n.478+21823T>G
n.563+21823T>G
c.2192A>C (p.Lys731Thr)
4g.47936527T=CA1455551612CNGA1,NIPAL1c.1955A= (p.Lys652=)
c.1967A= (p.Lys656=)
c.2174A= (p.Lys725=)
n.478+21823T=
n.563+21823T=
c.2192A= (p.Lys731=)
4g.47936528T>ACA356823102CNGA1,NIPAL1c.1954A>T (p.Lys652Ter)
c.1966A>T (p.Lys656Ter)
c.2173A>T (p.Lys725Ter)
n.478+21824T>A
n.563+21824T>A
c.2191A>T (p.Lys731Ter)
4g.47936528T>CCA356823100CNGA1,NIPAL1c.1954A>G (p.Lys652Glu)
c.1966A>G (p.Lys656Glu)
c.2173A>G (p.Lys725Glu)
n.478+21824T>C
n.563+21824T>C
c.2191A>G (p.Lys731Glu)
4g.47936528T>GCA356823101CNGA1,NIPAL1c.1954A>C (p.Lys652Gln)
c.1966A>C (p.Lys656Gln)
c.2173A>C (p.Lys725Gln)
n.478+21824T>G
n.563+21824T>G
c.2191A>C (p.Lys731Gln)
4g.47936529C>ACA439248133CNGA1,NIPAL1c.1953G>T (p.Leu651=)
c.1965G>T (p.Leu655=)
c.2172G>T (p.Leu724=)
n.478+21825C>A
n.563+21825C>A
c.2190G>T (p.Leu730=)
4g.47936529C>GCA439248135CNGA1,NIPAL1c.1953G>C (p.Leu651=)
c.1965G>C (p.Leu655=)
c.2172G>C (p.Leu724=)
n.478+21825C>G
n.563+21825C>G
c.2190G>C (p.Leu730=)
4g.47936529C>TCA439248137CNGA1,NIPAL1c.1953G>A (p.Leu651=)
c.1965G>A (p.Leu655=)
c.2172G>A (p.Leu724=)
n.478+21825C>T
n.563+21825C>T
c.2190G>A (p.Leu730=)
gnomAD v4
4g.47936530A>CCA356823103CNGA1,NIPAL1c.1952T>G (p.Leu651Arg)
c.1964T>G (p.Leu655Arg)
c.2171T>G (p.Leu724Arg)
n.478+21826A>C
n.563+21826A>C
c.2189T>G (p.Leu730Arg)
4g.47936530A>GCA356823104CNGA1,NIPAL1c.1952T>C (p.Leu651Pro)
c.1964T>C (p.Leu655Pro)
c.2171T>C (p.Leu724Pro)
n.478+21826A>G
n.563+21826A>G
c.2189T>C (p.Leu730Pro)
ClinVar dbSNP gnomAD v4
4g.47936530A>TCA356823105CNGA1,NIPAL1c.1952T>A (p.Leu651Gln)
c.1964T>A (p.Leu655Gln)
c.2171T>A (p.Leu724Gln)
n.478+21826A>T
n.563+21826A>T
c.2189T>A (p.Leu730Gln)
gnomAD v4
4g.47936531G>ACA439248141CNGA1,NIPAL1c.1951C>T (p.Leu651=)
c.1963C>T (p.Leu655=)
c.2170C>T (p.Leu724=)
n.478+21827G>A
n.563+21827G>A
c.2188C>T (p.Leu730=)
4g.47936531G>CCA356823106CNGA1,NIPAL1c.1951C>G (p.Leu651Val)
c.1963C>G (p.Leu655Val)
c.2170C>G (p.Leu724Val)
n.478+21827G>C
n.563+21827G>C
c.2188C>G (p.Leu730Val)
4g.47936531G>TCA356823107CNGA1,NIPAL1c.1951C>A (p.Leu651Met)
c.1963C>A (p.Leu655Met)
c.2170C>A (p.Leu724Met)
n.478+21827G>T
n.563+21827G>T
c.2188C>A (p.Leu730Met)
4g.47936532T>ACA356823108CNGA1,NIPAL1c.1950A>T (p.Lys650Asn)
c.1962A>T (p.Lys654Asn)
c.2169A>T (p.Lys723Asn)
n.478+21828T>A
n.563+21828T>A
c.2187A>T (p.Lys729Asn)
4g.47936532T>CCA439248145CNGA1,NIPAL1c.1950A>G (p.Lys650=)
c.1962A>G (p.Lys654=)
c.2169A>G (p.Lys723=)
n.478+21828T>C
n.563+21828T>C
c.2187A>G (p.Lys729=)
4g.47936532T>GCA356823109CNGA1,NIPAL1c.1950A>C (p.Lys650Asn)
c.1962A>C (p.Lys654Asn)
c.2169A>C (p.Lys723Asn)
n.478+21828T>G
n.563+21828T>G
c.2187A>C (p.Lys729Asn)
4g.47936533T>ACA356823110CNGA1,NIPAL1c.1949A>T (p.Lys650Ile)
c.1961A>T (p.Lys654Ile)
c.2168A>T (p.Lys723Ile)
n.478+21829T>A
n.563+21829T>A
c.2186A>T (p.Lys729Ile)
4g.47936533T>CCA356823111CNGA1,NIPAL1c.1949A>G (p.Lys650Arg)
c.1961A>G (p.Lys654Arg)
c.2168A>G (p.Lys723Arg)
n.478+21829T>C
n.563+21829T>C
c.2186A>G (p.Lys729Arg)
4g.47936533T>GCA356823112CNGA1,NIPAL1c.1949A>C (p.Lys650Thr)
c.1961A>C (p.Lys654Thr)
c.2168A>C (p.Lys723Thr)
n.478+21829T>G
n.563+21829T>G
c.2186A>C (p.Lys729Thr)
4g.47936534T>ACA356823114CNGA1,NIPAL1c.1948A>T (p.Lys650Ter)
c.1960A>T (p.Lys654Ter)
c.2167A>T (p.Lys723Ter)
n.478+21830T>A
n.563+21830T>A
c.2185A>T (p.Lys729Ter)
4g.47936534T>CCA356823115CNGA1,NIPAL1c.1948A>G (p.Lys650Glu)
c.1960A>G (p.Lys654Glu)
c.2167A>G (p.Lys723Glu)
n.478+21830T>C
n.563+21830T>C
c.2185A>G (p.Lys729Glu)
ClinVar dbSNP gnomAD v2 gnomAD v4
4g.47936534T>GCA356823113CNGA1,NIPAL1c.1948A>C (p.Lys650Gln)
c.1960A>C (p.Lys654Gln)
c.2167A>C (p.Lys723Gln)
n.478+21830T>G
n.563+21830T>G
c.2185A>C (p.Lys729Gln)
4g.47936534T=CA1455551613CNGA1,NIPAL1c.1948A= (p.Lys650=)
c.1960A= (p.Lys654=)
c.2167A= (p.Lys723=)
n.478+21830T=
n.563+21830T=
c.2185A= (p.Lys729=)
4g.47936535C>ACA356823116CNGA1,NIPAL1c.1947G>T (p.Gln649His)
c.1959G>T (p.Gln653His)
c.2166G>T (p.Gln722His)
n.478+21831C>A
n.563+21831C>A
c.2184G>T (p.Gln728His)
4g.47936535C>GCA356823117CNGA1,NIPAL1c.1947G>C (p.Gln649His)
c.1959G>C (p.Gln653His)
c.2166G>C (p.Gln722His)
n.478+21831C>G
n.563+21831C>G
c.2184G>C (p.Gln728His)
4g.47936535C>TCA439248152CNGA1,NIPAL1c.1947G>A (p.Gln649=)
c.1959G>A (p.Gln653=)
c.2166G>A (p.Gln722=)
n.478+21831C>T
n.563+21831C>T
c.2184G>A (p.Gln728=)
4g.47936536T>ACA356823118CNGA1,NIPAL1c.1946A>T (p.Gln649Leu)
c.1958A>T (p.Gln653Leu)
c.2165A>T (p.Gln722Leu)
n.478+21832T>A
n.563+21832T>A
c.2183A>T (p.Gln728Leu)
4g.47936536T>CCA356823119CNGA1,NIPAL1c.1946A>G (p.Gln649Arg)
c.1958A>G (p.Gln653Arg)
c.2165A>G (p.Gln722Arg)
n.478+21832T>C
n.563+21832T>C
c.2183A>G (p.Gln728Arg)
4g.47936536T>GCA96687867CNGA1,NIPAL1c.1946A>C (p.Gln649Pro)
c.1958A>C (p.Gln653Pro)
c.2165A>C (p.Gln722Pro)
n.478+21832T>G
n.563+21832T>G
c.2183A>C (p.Gln728Pro)
dbSNP
4g.47936536T=CA1455551614CNGA1,NIPAL1c.1946A= (p.Gln649=)
c.1958A= (p.Gln653=)
c.2165A= (p.Gln722=)
n.478+21832T=
n.563+21832T=
c.2183A= (p.Gln728=)
4g.47936537G>ACA356823122CNGA1,NIPAL1c.1945C>T (p.Gln649Ter)
c.1957C>T (p.Gln653Ter)
c.2164C>T (p.Gln722Ter)
n.478+21833G>A
n.563+21833G>A
c.2182C>T (p.Gln728Ter)
gnomAD v4
4g.47936537G>CCA356823120CNGA1,NIPAL1c.1945C>G (p.Gln649Glu)
c.1957C>G (p.Gln653Glu)
c.2164C>G (p.Gln722Glu)
n.478+21833G>C
n.563+21833G>C
c.2182C>G (p.Gln728Glu)
4g.47936537G>TCA356823121CNGA1,NIPAL1c.1945C>A (p.Gln649Lys)
c.1957C>A (p.Gln653Lys)
c.2164C>A (p.Gln722Lys)
n.478+21833G>T
n.563+21833G>T
c.2182C>A (p.Gln728Lys)
4g.47936538C>ACA356823123CNGA1,NIPAL1c.1944G>T (p.Gln648His)
c.1956G>T (p.Gln652His)
c.2163G>T (p.Gln721His)
n.478+21834C>A
n.563+21834C>A
c.2181G>T (p.Gln727His)
4g.47936538C>GCA356823124CNGA1,NIPAL1c.1944G>C (p.Gln648His)
c.1956G>C (p.Gln652His)
c.2163G>C (p.Gln721His)
n.478+21834C>G
n.563+21834C>G
c.2181G>C (p.Gln727His)
4g.47936538C>TCA439248157CNGA1,NIPAL1c.1944G>A (p.Gln648=)
c.1956G>A (p.Gln652=)
c.2163G>A (p.Gln721=)
n.478+21834C>T
n.563+21834C>T
c.2181G>A (p.Gln727=)
4g.47936539T>ACA356823125CNGA1,NIPAL1c.1943A>T (p.Gln648Leu)
c.1955A>T (p.Gln652Leu)
c.2162A>T (p.Gln721Leu)
n.478+21835T>A
n.563+21835T>A
c.2180A>T (p.Gln727Leu)
4g.47936539T>CCA356823126CNGA1,NIPAL1c.1943A>G (p.Gln648Arg)
c.1955A>G (p.Gln652Arg)
c.2162A>G (p.Gln721Arg)
n.478+21835T>C
n.563+21835T>C
c.2180A>G (p.Gln727Arg)
4g.47936539T>GCA356823127CNGA1,NIPAL1c.1943A>C (p.Gln648Pro)
c.1955A>C (p.Gln652Pro)
c.2162A>C (p.Gln721Pro)
n.478+21835T>G
n.563+21835T>G
c.2180A>C (p.Gln727Pro)
4g.47936540G>ACA356823128CNGA1,NIPAL1c.1942C>T (p.Gln648Ter)
c.1954C>T (p.Gln652Ter)
c.2161C>T (p.Gln721Ter)
n.478+21836G>A
n.563+21836G>A
c.2179C>T (p.Gln727Ter)
dbSNP
4g.47936540G>CCA356823130CNGA1,NIPAL1c.1942C>G (p.Gln648Glu)
c.1954C>G (p.Gln652Glu)
c.2161C>G (p.Gln721Glu)
n.478+21836G>C
n.563+21836G>C
c.2179C>G (p.Gln727Glu)
4g.47936540G=CA1455551615CNGA1,NIPAL1c.1942C= (p.Gln648=)
c.1954C= (p.Gln652=)
c.2161C= (p.Gln721=)
n.478+21836G=
n.563+21836G=
c.2179C= (p.Gln727=)
4g.47936540G>TCA356823129CNGA1,NIPAL1c.1942C>A (p.Gln648Lys)
c.1954C>A (p.Gln652Lys)
c.2161C>A (p.Gln721Lys)
n.478+21836G>T
n.563+21836G>T
c.2179C>A (p.Gln727Lys)
4g.47936541C>ACA356823131CNGA1,NIPAL1c.1941G>T (p.Met647Ile)
c.1953G>T (p.Met651Ile)
c.2160G>T (p.Met720Ile)
n.478+21837C>A
n.563+21837C>A
c.2178G>T (p.Met726Ile)
4g.47936541C>GCA356823132CNGA1,NIPAL1c.1941G>C (p.Met647Ile)
c.1953G>C (p.Met651Ile)
c.2160G>C (p.Met720Ile)
n.478+21837C>G
n.563+21837C>G
c.2178G>C (p.Met726Ile)
4g.47936541C>TCA356823133CNGA1,NIPAL1c.1941G>A (p.Met647Ile)
c.1953G>A (p.Met651Ile)
c.2160G>A (p.Met720Ile)
n.478+21837C>T
n.563+21837C>T
c.2178G>A (p.Met726Ile)
ClinVar gnomAD v4 COSMIC
4g.47936542A=CA1455551616CNGA1,NIPAL1c.1940T= (p.Met647=)
c.1952T= (p.Met651=)
c.2159T= (p.Met720=)
n.478+21838A=
n.563+21838A=
c.2177T= (p.Met726=)
4g.47936542A>CCA356823134CNGA1,NIPAL1c.1940T>G (p.Met647Arg)
c.1952T>G (p.Met651Arg)
c.2159T>G (p.Met720Arg)
n.478+21838A>C
n.563+21838A>C
c.2177T>G (p.Met726Arg)
4g.47936542A>GCA2910987CNGA1,NIPAL1c.1940T>C (p.Met647Thr)
c.1952T>C (p.Met651Thr)
c.2159T>C (p.Met720Thr)
n.478+21838A>G
n.563+21838A>G
c.2177T>C (p.Met726Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.47936542A>TCA356823135CNGA1,NIPAL1c.1940T>A (p.Met647Lys)
c.1952T>A (p.Met651Lys)
c.2159T>A (p.Met720Lys)
n.478+21838A>T
n.563+21838A>T
c.2177T>A (p.Met726Lys)
4g.47936543T>ACA356823136CNGA1,NIPAL1c.1939A>T (p.Met647Leu)
c.1951A>T (p.Met651Leu)
c.2158A>T (p.Met720Leu)
n.478+21839T>A
n.563+21839T>A
c.2176A>T (p.Met726Leu)
gnomAD v4
4g.47936543T>CCA2910988CNGA1,NIPAL1c.1939A>G (p.Met647Val)
c.1951A>G (p.Met651Val)
c.2158A>G (p.Met720Val)
n.478+21839T>C
n.563+21839T>C
c.2176A>G (p.Met726Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.47936543T>GCA356823137CNGA1,NIPAL1c.1939A>C (p.Met647Leu)
c.1951A>C (p.Met651Leu)
c.2158A>C (p.Met720Leu)
n.478+21839T>G
n.563+21839T>G
c.2176A>C (p.Met726Leu)
dbSNP gnomAD v2
4g.47936543T=CA1455551617CNGA1,NIPAL1c.1939A= (p.Met647=)
c.1951A= (p.Met651=)
c.2158A= (p.Met720=)
n.478+21839T=
n.563+21839T=
c.2176A= (p.Met726=)
4g.47936544G>ACA439248168CNGA1,NIPAL1c.1938C>T (p.Ser646=)
c.1950C>T (p.Ser650=)
c.2157C>T (p.Ser719=)
n.478+21840G>A
n.563+21840G>A
c.2175C>T (p.Ser725=)
dbSNP gnomAD v3 gnomAD v4
4g.47936544G>CCA439248167CNGA1,NIPAL1c.1938C>G (p.Ser646=)
c.1950C>G (p.Ser650=)
c.2157C>G (p.Ser719=)
n.478+21840G>C
n.563+21840G>C
c.2175C>G (p.Ser725=)
4g.47936544G=CA1455551618CNGA1,NIPAL1c.1938C= (p.Ser646=)
c.1950C= (p.Ser650=)
c.2157C= (p.Ser719=)
n.478+21840G=
n.563+21840G=
c.2175C= (p.Ser725=)
4g.47936544G>TCA439248166CNGA1,NIPAL1c.1938C>A (p.Ser646=)
c.1950C>A (p.Ser650=)
c.2157C>A (p.Ser719=)
n.478+21840G>T
n.563+21840G>T
c.2175C>A (p.Ser725=)
4g.47936545G>ACA96687875CNGA1,NIPAL1c.1937C>T (p.Ser646Phe)
c.1949C>T (p.Ser650Phe)
c.2156C>T (p.Ser719Phe)
n.478+21841G>A
n.563+21841G>A
c.2174C>T (p.Ser725Phe)
dbSNP
4g.47936545G>CCA356823138CNGA1,NIPAL1c.1937C>G (p.Ser646Cys)
c.1949C>G (p.Ser650Cys)
c.2156C>G (p.Ser719Cys)
n.478+21841G>C
n.563+21841G>C
c.2174C>G (p.Ser725Cys)
4g.47936545G=CA1455551619CNGA1,NIPAL1c.1937C= (p.Ser646=)
c.1949C= (p.Ser650=)
c.2156C= (p.Ser719=)
n.478+21841G=
n.563+21841G=
c.2174C= (p.Ser725=)
4g.47936545G>TCA356823139CNGA1,NIPAL1c.1937C>A (p.Ser646Tyr)
c.1949C>A (p.Ser650Tyr)
c.2156C>A (p.Ser719Tyr)
n.478+21841G>T
n.563+21841G>T
c.2174C>A (p.Ser725Tyr)
4g.47936546A>CCA356823141CNGA1,NIPAL1c.1936T>G (p.Ser646Ala)
c.1948T>G (p.Ser650Ala)
c.2155T>G (p.Ser719Ala)
n.478+21842A>C
n.563+21842A>C
c.2173T>G (p.Ser725Ala)
4g.47936546A>GCA356823142CNGA1,NIPAL1c.1936T>C (p.Ser646Pro)
c.1948T>C (p.Ser650Pro)
c.2155T>C (p.Ser719Pro)
n.478+21842A>G
n.563+21842A>G
c.2173T>C (p.Ser725Pro)
4g.47936546A>TCA356823140CNGA1,NIPAL1c.1936T>A (p.Ser646Thr)
c.1948T>A (p.Ser650Thr)
c.2155T>A (p.Ser719Thr)
n.478+21842A>T
n.563+21842A>T
c.2173T>A (p.Ser725Thr)
4g.47936547C>ACA356823144CNGA1,NIPAL1c.1935G>T (p.Glu645Asp)
c.1947G>T (p.Glu649Asp)
c.2154G>T (p.Glu718Asp)
n.478+21843C>A
n.563+21843C>A
c.2172G>T (p.Glu724Asp)
4g.47936547C=CA1455551620CNGA1,NIPAL1c.1935G= (p.Glu645=)
c.1947G= (p.Glu649=)
c.2154G= (p.Glu718=)
n.478+21843C=
n.563+21843C=
c.2172G= (p.Glu724=)
4g.47936547C>GCA356823143CNGA1,NIPAL1c.1935G>C (p.Glu645Asp)
c.1947G>C (p.Glu649Asp)
c.2154G>C (p.Glu718Asp)
n.478+21843C>G
n.563+21843C>G
c.2172G>C (p.Glu724Asp)
4g.47936547C>TCA2910989CNGA1,NIPAL1c.1935G>A (p.Glu645=)
c.1947G>A (p.Glu649=)
c.2154G>A (p.Glu718=)
n.478+21843C>T
n.563+21843C>T
c.2172G>A (p.Glu724=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
4g.47936548T>ACA356823145CNGA1,NIPAL1c.1934A>T (p.Glu645Val)
c.1946A>T (p.Glu649Val)
c.2153A>T (p.Glu718Val)
n.478+21844T>A
n.563+21844T>A
c.2171A>T (p.Glu724Val)
4g.47936548T>CCA356823146CNGA1,NIPAL1c.1934A>G (p.Glu645Gly)
c.1946A>G (p.Glu649Gly)
c.2153A>G (p.Glu718Gly)
n.478+21844T>C
n.563+21844T>C
c.2171A>G (p.Glu724Gly)
4g.47936548T>GCA2910990CNGA1,NIPAL1c.1934A>C (p.Glu645Ala)
c.1946A>C (p.Glu649Ala)
c.2153A>C (p.Glu718Ala)
n.478+21844T>G
n.563+21844T>G
c.2171A>C (p.Glu724Ala)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.47936548T=CA1455551621CNGA1,NIPAL1c.1934A= (p.Glu645=)
c.1946A= (p.Glu649=)
c.2153A= (p.Glu718=)
n.478+21844T=
n.563+21844T=
c.2171A= (p.Glu724=)
4g.47936549C>ACA356823149CNGA1,NIPAL1c.1933G>T (p.Glu645Ter)
c.1945G>T (p.Glu649Ter)
c.2152G>T (p.Glu718Ter)
n.478+21845C>A
n.563+21845C>A
c.2170G>T (p.Glu724Ter)
4g.47936549C>GCA356823148CNGA1,NIPAL1c.1933G>C (p.Glu645Gln)
c.1945G>C (p.Glu649Gln)
c.2152G>C (p.Glu718Gln)
n.478+21845C>G
n.563+21845C>G
c.2170G>C (p.Glu724Gln)
4g.47936549C>TCA356823147CNGA1,NIPAL1c.1933G>A (p.Glu645Lys)
c.1945G>A (p.Glu649Lys)
c.2152G>A (p.Glu718Lys)
n.478+21845C>T
n.563+21845C>T
c.2170G>A (p.Glu724Lys)
gnomAD v4
4g.47936550A=CA1455551622CNGA1,NIPAL1c.1932T= (p.Tyr644=)
c.1944T= (p.Tyr648=)
c.2151T= (p.Tyr717=)
n.478+21846A=
n.563+21846A=
c.2169T= (p.Tyr723=)
4g.47936550A>CCA356823150CNGA1,NIPAL1c.1932T>G (p.Tyr644Ter)
c.1944T>G (p.Tyr648Ter)
c.2151T>G (p.Tyr717Ter)
n.478+21846A>C
n.563+21846A>C
c.2169T>G (p.Tyr723Ter)
4g.47936550A>GCA2910991CNGA1,NIPAL1c.1932T>C (p.Tyr644=)
c.1944T>C (p.Tyr648=)
c.2151T>C (p.Tyr717=)
n.478+21846A>G
n.563+21846A>G
c.2169T>C (p.Tyr723=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.47936550A>TCA356823151CNGA1,NIPAL1c.1932T>A (p.Tyr644Ter)
c.1944T>A (p.Tyr648Ter)
c.2151T>A (p.Tyr717Ter)
n.478+21846A>T
n.563+21846A>T
c.2169T>A (p.Tyr723Ter)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.47936551T>ACA356823152CNGA1,NIPAL1c.1931A>T (p.Tyr644Phe)
c.1943A>T (p.Tyr648Phe)
c.2150A>T (p.Tyr717Phe)
n.478+21847T>A
n.563+21847T>A
c.2168A>T (p.Tyr723Phe)
4g.47936551T>CCA356823153CNGA1,NIPAL1c.1931A>G (p.Tyr644Cys)
c.1943A>G (p.Tyr648Cys)
c.2150A>G (p.Tyr717Cys)
n.478+21847T>C
n.563+21847T>C
c.2168A>G (p.Tyr723Cys)
4g.47936551T>GCA356823154CNGA1,NIPAL1c.1931A>C (p.Tyr644Ser)
c.1943A>C (p.Tyr648Ser)
c.2150A>C (p.Tyr717Ser)
n.478+21847T>G
n.563+21847T>G
c.2168A>C (p.Tyr723Ser)
4g.47936552delCA439248181CNGA1,NIPAL1c.1930del (p.Tyr644MetfsTer8)
c.1942del (p.Tyr648MetfsTer8)
c.2149del (p.Tyr717MetfsTer8)
n.478+21848del
n.563+21848del
c.2167del (p.Tyr723MetfsTer8)
4g.47936552A=CA1455551623CNGA1,NIPAL1c.1930T= (p.Tyr644=)
c.1942T= (p.Tyr648=)
c.2149T= (p.Tyr717=)
n.478+21848A=
n.563+21848A=
c.2167T= (p.Tyr723=)
4g.47936552A>CCA356823155CNGA1,NIPAL1c.1930T>G (p.Tyr644Asp)
c.1942T>G (p.Tyr648Asp)
c.2149T>G (p.Tyr717Asp)
n.478+21848A>C
n.563+21848A>C
c.2167T>G (p.Tyr723Asp)
4g.47936552A>GCA2910992CNGA1,NIPAL1c.1930T>C (p.Tyr644His)
c.1942T>C (p.Tyr648His)
c.2149T>C (p.Tyr717His)
n.478+21848A>G
n.563+21848A>G
c.2167T>C (p.Tyr723His)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.47936552A>TCA2910993CNGA1,NIPAL1c.1930T>A (p.Tyr644Asn)
c.1942T>A (p.Tyr648Asn)
c.2149T>A (p.Tyr717Asn)
n.478+21848A>T
n.563+21848A>T
c.2167T>A (p.Tyr723Asn)
dbSNP ExAC gnomAD v2 gnomAD v4
4g.47936553C>ACA356823156CNGA1,NIPAL1c.1929G>T (p.Glu643Asp)
c.1941G>T (p.Glu647Asp)
c.2148G>T (p.Glu716Asp)
n.478+21849C>A
n.563+21849C>A
c.2166G>T (p.Glu722Asp)
4g.47936553C>GCA356823157CNGA1,NIPAL1c.1929G>C (p.Glu643Asp)
c.1941G>C (p.Glu647Asp)
c.2148G>C (p.Glu716Asp)
n.478+21849C>G
n.563+21849C>G
c.2166G>C (p.Glu722Asp)
4g.47936553C>TCA439248183CNGA1,NIPAL1c.1929G>A (p.Glu643=)
c.1941G>A (p.Glu647=)
c.2148G>A (p.Glu716=)
n.478+21849C>T
n.563+21849C>T
c.2166G>A (p.Glu722=)
4g.47936554T>ACA356823158CNGA1,NIPAL1c.1928A>T (p.Glu643Val)
c.1940A>T (p.Glu647Val)
c.2147A>T (p.Glu716Val)
n.478+21850T>A
n.563+21850T>A
c.2165A>T (p.Glu722Val)
4g.47936554T>CCA356823159CNGA1,NIPAL1c.1928A>G (p.Glu643Gly)
c.1940A>G (p.Glu647Gly)
c.2147A>G (p.Glu716Gly)
n.478+21850T>C
n.563+21850T>C
c.2165A>G (p.Glu722Gly)
gnomAD v4
4g.47936554T>GCA356823160CNGA1,NIPAL1c.1928A>C (p.Glu643Ala)
c.1940A>C (p.Glu647Ala)
c.2147A>C (p.Glu716Ala)
n.478+21850T>G
n.563+21850T>G
c.2165A>C (p.Glu722Ala)
4g.47936555C>ACA356823161CNGA1,NIPAL1c.1927G>T (p.Glu643Ter)
c.1939G>T (p.Glu647Ter)
c.2146G>T (p.Glu716Ter)
n.478+21851C>A
n.563+21851C>A
c.2164G>T (p.Glu722Ter)
4g.47936555C>GCA356823162CNGA1,NIPAL1c.1927G>C (p.Glu643Gln)
c.1939G>C (p.Glu647Gln)
c.2146G>C (p.Glu716Gln)
n.478+21851C>G
n.563+21851C>G
c.2164G>C (p.Glu722Gln)
4g.47936555C>TCA356823163CNGA1,NIPAL1c.1927G>A (p.Glu643Lys)
c.1939G>A (p.Glu647Lys)
c.2146G>A (p.Glu716Lys)
n.478+21851C>T
n.563+21851C>T
c.2164G>A (p.Glu722Lys)
4g.47936556A>CCA439248186CNGA1,NIPAL1c.1926T>G (p.Ala642=)
c.1938T>G (p.Ala646=)
c.2145T>G (p.Ala715=)
n.478+21852A>C
n.563+21852A>C
c.2163T>G (p.Ala721=)
4g.47936556A>GCA439248187CNGA1,NIPAL1c.1926T>C (p.Ala642=)
c.1938T>C (p.Ala646=)
c.2145T>C (p.Ala715=)
n.478+21852A>G
n.563+21852A>G
c.2163T>C (p.Ala721=)
4g.47936556A>TCA439248189CNGA1,NIPAL1c.1926T>A (p.Ala642=)
c.1938T>A (p.Ala646=)
c.2145T>A (p.Ala715=)
n.478+21852A>T
n.563+21852A>T
c.2163T>A (p.Ala721=)
4g.47936557G>ACA356823164CNGA1,NIPAL1c.1925C>T (p.Ala642Val)
c.1937C>T (p.Ala646Val)
c.2144C>T (p.Ala715Val)
n.478+21853G>A
n.563+21853G>A
c.2162C>T (p.Ala721Val)
gnomAD v4
4g.47936557G>CCA356823165CNGA1,NIPAL1c.1925C>G (p.Ala642Gly)
c.1937C>G (p.Ala646Gly)
c.2144C>G (p.Ala715Gly)
n.478+21853G>C
n.563+21853G>C
c.2162C>G (p.Ala721Gly)
4g.47936557G>TCA356823166CNGA1,NIPAL1c.1925C>A (p.Ala642Asp)
c.1937C>A (p.Ala646Asp)
c.2144C>A (p.Ala715Asp)
n.478+21853G>T
n.563+21853G>T
c.2162C>A (p.Ala721Asp)
4g.47936558C>ACA356823169CNGA1,NIPAL1c.1924G>T (p.Ala642Ser)
c.1936G>T (p.Ala646Ser)
c.2143G>T (p.Ala715Ser)
n.478+21854C>A
n.563+21854C>A
c.2161G>T (p.Ala721Ser)
4g.47936558C>GCA356823168CNGA1,NIPAL1c.1924G>C (p.Ala642Pro)
c.1936G>C (p.Ala646Pro)
c.2143G>C (p.Ala715Pro)
n.478+21854C>G
n.563+21854C>G
c.2161G>C (p.Ala721Pro)
4g.47936558C>TCA356823167CNGA1,NIPAL1c.1924G>A (p.Ala642Thr)
c.1936G>A (p.Ala646Thr)
c.2143G>A (p.Ala715Thr)
n.478+21854C>T
n.563+21854C>T
c.2161G>A (p.Ala721Thr)
4g.47936559C>ACA356823170CNGA1,NIPAL1c.1923G>T (p.Leu641Phe)
c.1935G>T (p.Leu645Phe)
c.2142G>T (p.Leu714Phe)
n.478+21855C>A
n.563+21855C>A
c.2160G>T (p.Leu720Phe)
4g.47936559C>GCA356823171CNGA1,NIPAL1c.1923G>C (p.Leu641Phe)
c.1935G>C (p.Leu645Phe)
c.2142G>C (p.Leu714Phe)
n.478+21855C>G
n.563+21855C>G
c.2160G>C (p.Leu720Phe)
4g.47936559C>TCA439248194CNGA1,NIPAL1c.1923G>A (p.Leu641=)
c.1935G>A (p.Leu645=)
c.2142G>A (p.Leu714=)
n.478+21855C>T
n.563+21855C>T
c.2160G>A (p.Leu720=)
4g.47936560A>CCA356823172CNGA1,NIPAL1c.1922T>G (p.Leu641Trp)
c.1934T>G (p.Leu645Trp)
c.2141T>G (p.Leu714Trp)
n.478+21856A>C
n.563+21856A>C
c.2159T>G (p.Leu720Trp)
4g.47936560A>GCA356823173CNGA1,NIPAL1c.1922T>C (p.Leu641Ser)
c.1934T>C (p.Leu645Ser)
c.2141T>C (p.Leu714Ser)
n.478+21856A>G
n.563+21856A>G
c.2159T>C (p.Leu720Ser)
4g.47936560A>TCA356823174CNGA1,NIPAL1c.1922T>A (p.Leu641Ter)
c.1934T>A (p.Leu645Ter)
c.2141T>A (p.Leu714Ter)
n.478+21856A>T
n.563+21856A>T
c.2159T>A (p.Leu720Ter)
4g.47936561A=CA1455551624CNGA1,NIPAL1c.1921T= (p.Leu641=)
c.1933T= (p.Leu645=)
c.2140T= (p.Leu714=)
n.478+21857A=
n.563+21857A=
c.2158T= (p.Leu720=)
4g.47936561A>CCA2910994CNGA1,NIPAL1c.1921T>G (p.Leu641Val)
c.1933T>G (p.Leu645Val)
c.2140T>G (p.Leu714Val)
n.478+21857A>C
n.563+21857A>C
c.2158T>G (p.Leu720Val)
dbSNP ExAC gnomAD v2 gnomAD v4
4g.47936561A>GCA439248196CNGA1,NIPAL1c.1921T>C (p.Leu641=)
c.1933T>C (p.Leu645=)
c.2140T>C (p.Leu714=)
n.478+21857A>G
n.563+21857A>G
c.2158T>C (p.Leu720=)
4g.47936561A>TCA356823175CNGA1,NIPAL1c.1921T>A (p.Leu641Met)
c.1933T>A (p.Leu645Met)
c.2140T>A (p.Leu714Met)
n.478+21857A>T
n.563+21857A>T
c.2158T>A (p.Leu720Met)
4g.47936562G>ACA439248199CNGA1,NIPAL1c.1920C>T (p.Ile640=)
c.1932C>T (p.Ile644=)
c.2139C>T (p.Ile713=)
n.478+21858G>A
n.563+21858G>A
c.2157C>T (p.Ile719=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.47936562G>CCA356823176CNGA1,NIPAL1c.1920C>G (p.Ile640Met)
c.1932C>G (p.Ile644Met)
c.2139C>G (p.Ile713Met)
n.478+21858G>C
n.563+21858G>C
c.2157C>G (p.Ile719Met)
COSMIC
4g.47936562G=CA1455551625CNGA1,NIPAL1c.1920C= (p.Ile640=)
c.1932C= (p.Ile644=)
c.2139C= (p.Ile713=)
n.478+21858G=
n.563+21858G=
c.2157C= (p.Ile719=)
4g.47936562G>TCA439248197CNGA1,NIPAL1c.1920C>A (p.Ile640=)
c.1932C>A (p.Ile644=)
c.2139C>A (p.Ile713=)
n.478+21858G>T
n.563+21858G>T
c.2157C>A (p.Ile719=)
4g.47936563A>CCA356823177CNGA1,NIPAL1c.1919T>G (p.Ile640Ser)
c.1931T>G (p.Ile644Ser)
c.2138T>G (p.Ile713Ser)
n.478+21859A>C
n.563+21859A>C
c.2156T>G (p.Ile719Ser)
4g.47936563A>GCA356823178CNGA1,NIPAL1c.1919T>C (p.Ile640Thr)
c.1931T>C (p.Ile644Thr)
c.2138T>C (p.Ile713Thr)
n.478+21859A>G
n.563+21859A>G
c.2156T>C (p.Ile719Thr)
4g.47936563A>TCA356823179CNGA1,NIPAL1c.1919T>A (p.Ile640Asn)
c.1931T>A (p.Ile644Asn)
c.2138T>A (p.Ile713Asn)
n.478+21859A>T
n.563+21859A>T
c.2156T>A (p.Ile719Asn)
4g.47936563dupCA2910995CNGA1,NIPAL1c.1919dup (p.Ala642GlyfsTer2)
c.1931dup (p.Ala646GlyfsTer2)
c.2138dup (p.Ala715GlyfsTer2)
n.478+21859dup
n.563+21859dup
c.2156dup (p.Ala721GlyfsTer2)
dbSNP ExAC gnomAD v2 gnomAD v4
4g.47936564T>ACA356823181CNGA1,NIPAL1c.1918A>T (p.Ile640Phe)
c.1930A>T (p.Ile644Phe)
c.2137A>T (p.Ile713Phe)
n.478+21860T>A
n.563+21860T>A
c.2155A>T (p.Ile719Phe)
4g.47936564T>CCA356823182CNGA1,NIPAL1c.1918A>G (p.Ile640Val)
c.1930A>G (p.Ile644Val)
c.2137A>G (p.Ile713Val)
n.478+21860T>C
n.563+21860T>C
c.2155A>G (p.Ile719Val)
4g.47936564T>GCA356823180CNGA1,NIPAL1c.1918A>C (p.Ile640Leu)
c.1930A>C (p.Ile644Leu)
c.2137A>C (p.Ile713Leu)
n.478+21860T>G
n.563+21860T>G
c.2155A>C (p.Ile719Leu)
4g.47936565T>ACA439248202CNGA1,NIPAL1c.1917A>T (p.Arg639=)
c.1929A>T (p.Arg643=)
c.2136A>T (p.Arg712=)
n.478+21861T>A
n.563+21861T>A
c.2154A>T (p.Arg718=)
4g.47936565T>CCA439248204CNGA1,NIPAL1c.1917A>G (p.Arg639=)
c.1929A>G (p.Arg643=)
c.2136A>G (p.Arg712=)
n.478+21861T>C
n.563+21861T>C
c.2154A>G (p.Arg718=)
4g.47936565T>GCA439248203CNGA1,NIPAL1c.1917A>C (p.Arg639=)
c.1929A>C (p.Arg643=)
c.2136A>C (p.Arg712=)
n.478+21861T>G
n.563+21861T>G
c.2154A>C (p.Arg718=)
gnomAD v4
4g.47936566C>ACA356823183CNGA1,NIPAL1c.1916G>T (p.Arg639Leu)
c.1928G>T (p.Arg643Leu)
c.2135G>T (p.Arg712Leu)
n.478+21862C>A
n.563+21862C>A
c.2153G>T (p.Arg718Leu)
dbSNP gnomAD v2 gnomAD v4
4g.47936566C=CA1455551626CNGA1,NIPAL1c.1916G= (p.Arg639=)
c.1928G= (p.Arg643=)
c.2135G= (p.Arg712=)
n.478+21862C=
n.563+21862C=
c.2153G= (p.Arg718=)
4g.47936566C>GCA356823184CNGA1,NIPAL1c.1916G>C (p.Arg639Pro)
c.1928G>C (p.Arg643Pro)
c.2135G>C (p.Arg712Pro)
n.478+21862C>G
n.563+21862C>G
c.2153G>C (p.Arg718Pro)
4g.47936566C>TCA2910996CNGA1,NIPAL1c.1916G>A (p.Arg639Gln)
c.1928G>A (p.Arg643Gln)
c.2135G>A (p.Arg712Gln)
n.478+21862C>T
n.563+21862C>T
c.2153G>A (p.Arg718Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
4g.47936567G>ACA2910997CNGA1,NIPAL1c.1915C>T (p.Arg639Ter)
c.1927C>T (p.Arg643Ter)
c.2134C>T (p.Arg712Ter)
n.478+21863G>A
n.563+21863G>A
c.2152C>T (p.Arg718Ter)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
4g.47936567G>CCA356823185CNGA1,NIPAL1c.1915C>G (p.Arg639Gly)
c.1927C>G (p.Arg643Gly)
c.2134C>G (p.Arg712Gly)
n.478+21863G>C
n.563+21863G>C
c.2152C>G (p.Arg718Gly)
4g.47936567G=CA1455551627CNGA1,NIPAL1c.1915C= (p.Arg639=)
c.1927C= (p.Arg643=)
c.2134C= (p.Arg712=)
n.478+21863G=
n.563+21863G=
c.2152C= (p.Arg718=)
4g.47936567G>TCA439248208CNGA1,NIPAL1c.1915C>A (p.Arg639=)
c.1927C>A (p.Arg643=)
c.2134C>A (p.Arg712=)
n.478+21863G>T
n.563+21863G>T
c.2152C>A (p.Arg718=)
4g.47936568G>ACA439248209CNGA1,NIPAL1c.1914C>T (p.Ala638=)
c.1926C>T (p.Ala642=)
c.2133C>T (p.Ala711=)
n.478+21864G>A
n.563+21864G>A
c.2151C>T (p.Ala717=)
gnomAD v4
4g.47936568G>CCA439248210CNGA1,NIPAL1c.1914C>G (p.Ala638=)
c.1926C>G (p.Ala642=)
c.2133C>G (p.Ala711=)
n.478+21864G>C
n.563+21864G>C
c.2151C>G (p.Ala717=)
4g.47936568G>TCA439248212CNGA1,NIPAL1c.1914C>A (p.Ala638=)
c.1926C>A (p.Ala642=)
c.2133C>A (p.Ala711=)
n.478+21864G>T
n.563+21864G>T
c.2151C>A (p.Ala717=)
4g.47936569G>ACA356823188CNGA1,NIPAL1c.1913C>T (p.Ala638Val)
c.1925C>T (p.Ala642Val)
c.2132C>T (p.Ala711Val)
n.478+21865G>A
n.563+21865G>A
c.2150C>T (p.Ala717Val)
gnomAD v4
4g.47936569G>CCA356823186CNGA1,NIPAL1c.1913C>G (p.Ala638Gly)
c.1925C>G (p.Ala642Gly)
c.2132C>G (p.Ala711Gly)
n.478+21865G>C
n.563+21865G>C
c.2150C>G (p.Ala717Gly)
4g.47936569G>TCA356823187CNGA1,NIPAL1c.1913C>A (p.Ala638Asp)
c.1925C>A (p.Ala642Asp)
c.2132C>A (p.Ala711Asp)
n.478+21865G>T
n.563+21865G>T
c.2150C>A (p.Ala717Asp)
4g.47936570C>ACA356823189CNGA1,NIPAL1c.1912G>T (p.Ala638Ser)
c.1924G>T (p.Ala642Ser)
c.2131G>T (p.Ala711Ser)
n.478+21866C>A
n.563+21866C>A
c.2149G>T (p.Ala717Ser)
4g.47936570C=CA1455551628CNGA1,NIPAL1c.1912G= (p.Ala638=)
c.1924G= (p.Ala642=)
c.2131G= (p.Ala711=)
n.478+21866C=
n.563+21866C=
c.2149G= (p.Ala717=)
4g.47936570C>GCA356823190CNGA1,NIPAL1c.1912G>C (p.Ala638Pro)
c.1924G>C (p.Ala642Pro)
c.2131G>C (p.Ala711Pro)
n.478+21866C>G
n.563+21866C>G
c.2149G>C (p.Ala717Pro)
4g.47936570C>TCA96687931CNGA1,NIPAL1c.1912G>A (p.Ala638Thr)
c.1924G>A (p.Ala642Thr)
c.2131G>A (p.Ala711Thr)
n.478+21866C>T
n.563+21866C>T
c.2149G>A (p.Ala717Thr)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.47936571A>CCA356823191CNGA1,NIPAL1c.1911T>G (p.Phe637Leu)
c.1923T>G (p.Phe641Leu)
c.2130T>G (p.Phe710Leu)
n.478+21867A>C
n.563+21867A>C
c.2148T>G (p.Phe716Leu)
4g.47936571A>GCA439248217CNGA1,NIPAL1c.1911T>C (p.Phe637=)
c.1923T>C (p.Phe641=)
c.2130T>C (p.Phe710=)
n.478+21867A>G
n.563+21867A>G
c.2148T>C (p.Phe716=)
4g.47936571A>TCA356823192CNGA1,NIPAL1c.1911T>A (p.Phe637Leu)
c.1923T>A (p.Phe641Leu)
c.2130T>A (p.Phe710Leu)
n.478+21867A>T
n.563+21867A>T
c.2148T>A (p.Phe716Leu)
4g.47936572A>CCA356823195CNGA1,NIPAL1c.1910T>G (p.Phe637Cys)
c.1922T>G (p.Phe641Cys)
c.2129T>G (p.Phe710Cys)
n.478+21868A>C
n.563+21868A>C
c.2147T>G (p.Phe716Cys)
4g.47936572A>GCA356823194CNGA1,NIPAL1c.1910T>C (p.Phe637Ser)
c.1922T>C (p.Phe641Ser)
c.2129T>C (p.Phe710Ser)
n.478+21868A>G
n.563+21868A>G
c.2147T>C (p.Phe716Ser)
4g.47936572A>TCA356823193CNGA1,NIPAL1c.1910T>A (p.Phe637Tyr)
c.1922T>A (p.Phe641Tyr)
c.2129T>A (p.Phe710Tyr)
n.478+21868A>T
n.563+21868A>T
c.2147T>A (p.Phe716Tyr)
4g.47936573A>CCA356823196CNGA1,NIPAL1c.1909T>G (p.Phe637Val)
c.1921T>G (p.Phe641Val)
c.2128T>G (p.Phe710Val)
n.478+21869A>C
n.563+21869A>C
c.2146T>G (p.Phe716Val)
4g.47936573A>GCA356823198CNGA1,NIPAL1c.1909T>C (p.Phe637Leu)
c.1921T>C (p.Phe641Leu)
c.2128T>C (p.Phe710Leu)
n.478+21869A>G
n.563+21869A>G
c.2146T>C (p.Phe716Leu)
4g.47936573A>TCA356823197CNGA1,NIPAL1c.1909T>A (p.Phe637Ile)
c.1921T>A (p.Phe641Ile)
c.2128T>A (p.Phe710Ile)
n.478+21869A>T
n.563+21869A>T
c.2146T>A (p.Phe716Ile)
4g.47936574C>ACA356823199CNGA1,NIPAL1c.1908G>T (p.Arg636Ser)
c.1920G>T (p.Arg640Ser)
c.2127G>T (p.Arg709Ser)
n.478+21870C>A
n.563+21870C>A
c.2145G>T (p.Arg715Ser)
COSMIC
4g.47936574C=CA1455551629CNGA1,NIPAL1c.1908G= (p.Arg636=)
c.1920G= (p.Arg640=)
c.2127G= (p.Arg709=)
n.478+21870C=
n.563+21870C=
c.2145G= (p.Arg715=)
4g.47936574C>GCA356823200CNGA1,NIPAL1c.1908G>C (p.Arg636Ser)
c.1920G>C (p.Arg640Ser)
c.2127G>C (p.Arg709Ser)
n.478+21870C>G
n.563+21870C>G
c.2145G>C (p.Arg715Ser)
4g.47936574C>TCA439248219CNGA1,NIPAL1c.1908G>A (p.Arg636=)
c.1920G>A (p.Arg640=)
c.2127G>A (p.Arg709=)
n.478+21870C>T
n.563+21870C>T
c.2145G>A (p.Arg715=)
dbSNP gnomAD v3 gnomAD v4
4g.47936575C>ACA356823201CNGA1,NIPAL1c.1907G>T (p.Arg636Met)
c.1919G>T (p.Arg640Met)
c.2126G>T (p.Arg709Met)
n.478+21871C>A
n.563+21871C>A
c.2144G>T (p.Arg715Met)
4g.47936575C>GCA356823202CNGA1,NIPAL1c.1907G>C (p.Arg636Thr)
c.1919G>C (p.Arg640Thr)
c.2126G>C (p.Arg709Thr)
n.478+21871C>G
n.563+21871C>G
c.2144G>C (p.Arg715Thr)
4g.47936575C>TCA356823203CNGA1,NIPAL1c.1907G>A (p.Arg636Lys)
c.1919G>A (p.Arg640Lys)
c.2126G>A (p.Arg709Lys)
n.478+21871C>T
n.563+21871C>T
c.2144G>A (p.Arg715Lys)
4g.47936576T>ACA356823204CNGA1,NIPAL1c.1906A>T (p.Arg636Trp)
c.1918A>T (p.Arg640Trp)
c.2125A>T (p.Arg709Trp)
n.478+21872T>A
n.563+21872T>A
c.2143A>T (p.Arg715Trp)
4g.47936576T>CCA96687937CNGA1,NIPAL1c.1906A>G (p.Arg636Gly)
c.1918A>G (p.Arg640Gly)
c.2125A>G (p.Arg709Gly)
n.478+21872T>C
n.563+21872T>C
c.2143A>G (p.Arg715Gly)
dbSNP
4g.47936576T>GCA439248220CNGA1,NIPAL1c.1906A>C (p.Arg636=)
c.1918A>C (p.Arg640=)
c.2125A>C (p.Arg709=)
n.478+21872T>G
n.563+21872T>G
c.2143A>C (p.Arg715=)
4g.47936576T=CA1455551630CNGA1,NIPAL1c.1906A= (p.Arg636=)
c.1918A= (p.Arg640=)
c.2125A= (p.Arg709=)
n.478+21872T=
n.563+21872T=
c.2143A= (p.Arg715=)
4g.47936577G>ACA439248222CNGA1,NIPAL1c.1905C>T (p.Thr635=)
c.1917C>T (p.Thr639=)
c.2124C>T (p.Thr708=)
n.478+21873G>A
n.563+21873G>A
c.2142C>T (p.Thr714=)
4g.47936577G>CCA439248223CNGA1,NIPAL1c.1905C>G (p.Thr635=)
c.1917C>G (p.Thr639=)
c.2124C>G (p.Thr708=)
n.478+21873G>C
n.563+21873G>C
c.2142C>G (p.Thr714=)
4g.47936577G>TCA439248224CNGA1,NIPAL1c.1905C>A (p.Thr635=)
c.1917C>A (p.Thr639=)
c.2124C>A (p.Thr708=)
n.478+21873G>T
n.563+21873G>T
c.2142C>A (p.Thr714=)
dbSNP
4g.47936578G>ACA356823207CNGA1,NIPAL1c.1904C>T (p.Thr635Ile)
c.1916C>T (p.Thr639Ile)
c.2123C>T (p.Thr708Ile)
n.478+21874G>A
n.563+21874G>A
c.2141C>T (p.Thr714Ile)
dbSNP gnomAD v3 gnomAD v4
4g.47936578G>CCA356823205CNGA1,NIPAL1c.1904C>G (p.Thr635Ser)
c.1916C>G (p.Thr639Ser)
c.2123C>G (p.Thr708Ser)
n.478+21874G>C
n.563+21874G>C
c.2141C>G (p.Thr714Ser)
4g.47936578G=CA1455551631CNGA1,NIPAL1c.1904C= (p.Thr635=)
c.1916C= (p.Thr639=)
c.2123C= (p.Thr708=)
n.478+21874G=
n.563+21874G=
c.2141C= (p.Thr714=)
4g.47936578G>TCA356823206CNGA1,NIPAL1c.1904C>A (p.Thr635Asn)
c.1916C>A (p.Thr639Asn)
c.2123C>A (p.Thr708Asn)
n.478+21874G>T
n.563+21874G>T
c.2141C>A (p.Thr714Asn)
4g.47936579T>ACA356823208CNGA1,NIPAL1c.1903A>T (p.Thr635Ser)
c.1915A>T (p.Thr639Ser)
c.2122A>T (p.Thr708Ser)
n.478+21875T>A
n.563+21875T>A
c.2140A>T (p.Thr714Ser)
4g.47936579T>CCA356823209CNGA1,NIPAL1c.1903A>G (p.Thr635Ala)
c.1915A>G (p.Thr639Ala)
c.2122A>G (p.Thr708Ala)
n.478+21875T>C
n.563+21875T>C
c.2140A>G (p.Thr714Ala)
4g.47936579T>GCA356823210CNGA1,NIPAL1c.1903A>C (p.Thr635Pro)
c.1915A>C (p.Thr639Pro)
c.2122A>C (p.Thr708Pro)
n.478+21875T>G
n.563+21875T>G
c.2140A>C (p.Thr714Pro)
4g.47936580T>ACA356823213CNGA1,NIPAL1c.1902A>T (p.Gln634His)
c.1914A>T (p.Gln638His)
c.2121A>T (p.Gln707His)
n.478+21876T>A
n.563+21876T>A
c.2139A>T (p.Gln713His)
4g.47936580T>CCA439248226CNGA1,NIPAL1c.1902A>G (p.Gln634=)
c.1914A>G (p.Gln638=)
c.2121A>G (p.Gln707=)
n.478+21876T>C
n.563+21876T>C
c.2139A>G (p.Gln713=)
4g.47936580T>GCA356823215CNGA1,NIPAL1c.1902A>C (p.Gln634His)
c.1914A>C (p.Gln638His)
c.2121A>C (p.Gln707His)
n.478+21876T>G
n.563+21876T>G
c.2139A>C (p.Gln713His)
gnomAD v4
4g.47936581T>ACA356823217CNGA1,NIPAL1c.1901A>T (p.Gln634Leu)
c.1913A>T (p.Gln638Leu)
c.2120A>T (p.Gln707Leu)
n.478+21877T>A
n.563+21877T>A
c.2138A>T (p.Gln713Leu)
4g.47936581T>CCA356823221CNGA1,NIPAL1c.1901A>G (p.Gln634Arg)
c.1913A>G (p.Gln638Arg)
c.2120A>G (p.Gln707Arg)
n.478+21877T>C
n.563+21877T>C
c.2138A>G (p.Gln713Arg)
4g.47936581T>GCA356823219CNGA1,NIPAL1c.1901A>C (p.Gln634Pro)
c.1913A>C (p.Gln638Pro)
c.2120A>C (p.Gln707Pro)
n.478+21877T>G
n.563+21877T>G
c.2138A>C (p.Gln713Pro)
4g.47936582G>ACA356823223CNGA1,NIPAL1c.1900C>T (p.Gln634Ter)
c.1912C>T (p.Gln638Ter)
c.2119C>T (p.Gln707Ter)
n.478+21878G>A
n.563+21878G>A
c.2137C>T (p.Gln713Ter)
4g.47936582G>CCA356823225CNGA1,NIPAL1c.1900C>G (p.Gln634Glu)
c.1912C>G (p.Gln638Glu)
c.2119C>G (p.Gln707Glu)
n.478+21878G>C
n.563+21878G>C
c.2137C>G (p.Gln713Glu)
4g.47936582G>TCA356823226CNGA1,NIPAL1c.1900C>A (p.Gln634Lys)
c.1912C>A (p.Gln638Lys)
c.2119C>A (p.Gln707Lys)
n.478+21878G>T
n.563+21878G>T
c.2137C>A (p.Gln713Lys)
4g.47936583C>ACA439248231CNGA1,NIPAL1c.1899G>T (p.Leu633=)
c.1911G>T (p.Leu637=)
c.2118G>T (p.Leu706=)
n.478+21879C>A
n.563+21879C>A
c.2136G>T (p.Leu712=)
4g.47936583C>GCA439248233CNGA1,NIPAL1c.1899G>C (p.Leu633=)
c.1911G>C (p.Leu637=)
c.2118G>C (p.Leu706=)
n.478+21879C>G
n.563+21879C>G
c.2136G>C (p.Leu712=)
4g.47936583C>TCA439248234CNGA1,NIPAL1c.1899G>A (p.Leu633=)
c.1911G>A (p.Leu637=)
c.2118G>A (p.Leu706=)
n.478+21879C>T
n.563+21879C>T
c.2136G>A (p.Leu712=)
gnomAD v4
4g.47936584A=CA1455551632CNGA1,NIPAL1c.1898T= (p.Leu633=)
c.1910T= (p.Leu637=)
c.2117T= (p.Leu706=)
n.478+21880A=
n.563+21880A=
c.2135T= (p.Leu712=)
4g.47936584A>CCA2910998CNGA1,NIPAL1c.1898T>G (p.Leu633Arg)
c.1910T>G (p.Leu637Arg)
c.2117T>G (p.Leu706Arg)
n.478+21880A>C
n.563+21880A>C
c.2135T>G (p.Leu712Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.47936584A>GCA356823227CNGA1,NIPAL1c.1898T>C (p.Leu633Pro)
c.1910T>C (p.Leu637Pro)
c.2117T>C (p.Leu706Pro)
n.478+21880A>G
n.563+21880A>G
c.2135T>C (p.Leu712Pro)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.47936584A>TCA356823228CNGA1,NIPAL1c.1898T>A (p.Leu633Gln)
c.1910T>A (p.Leu637Gln)
c.2117T>A (p.Leu706Gln)
n.478+21880A>T
n.563+21880A>T
c.2135T>A (p.Leu712Gln)
4g.47936587_47936589delCA2670552339CNGA1,NIPAL1c.1896_1898del (p.Leu633del)
c.1908_1910del (p.Leu637del)
c.2115_2117del (p.Leu706del)
n.478+21883_478+21885del
n.563+21883_563+21885del
c.2133_2135del (p.Leu712del)
gnomAD v4
4g.47936585G>ACA439248236CNGA1,NIPAL1c.1897C>T (p.Leu633=)
c.1909C>T (p.Leu637=)
c.2116C>T (p.Leu706=)
n.478+21881G>A
n.563+21881G>A
c.2134C>T (p.Leu712=)
4g.47936585G>CCA356823229CNGA1,NIPAL1c.1897C>G (p.Leu633Val)
c.1909C>G (p.Leu637Val)
c.2116C>G (p.Leu706Val)
n.478+21881G>C
n.563+21881G>C
c.2134C>G (p.Leu712Val)
4g.47936585G>TCA356823230CNGA1,NIPAL1c.1897C>A (p.Leu633Met)
c.1909C>A (p.Leu637Met)
c.2116C>A (p.Leu706Met)
n.478+21881G>T
n.563+21881G>T
c.2134C>A (p.Leu712Met)
4g.47936586G>ACA439248237CNGA1,NIPAL1c.1896C>T (p.Leu632=)
c.1908C>T (p.Leu636=)
c.2115C>T (p.Leu705=)
n.478+21882G>A
n.563+21882G>A
c.2133C>T (p.Leu711=)
4g.47936586G>CCA439248240CNGA1,NIPAL1c.1896C>G (p.Leu632=)
c.1908C>G (p.Leu636=)
c.2115C>G (p.Leu705=)
n.478+21882G>C
n.563+21882G>C
c.2133C>G (p.Leu711=)
4g.47936586G=CA1455551633CNGA1,NIPAL1c.1896C= (p.Leu632=)
c.1908C= (p.Leu636=)
c.2115C= (p.Leu705=)
n.478+21882G=
n.563+21882G=
c.2133C= (p.Leu711=)
4g.47936586G>TCA439248238CNGA1,NIPAL1c.1896C>A (p.Leu632=)
c.1908C>A (p.Leu636=)
c.2115C>A (p.Leu705=)
n.478+21882G>T
n.563+21882G>T
c.2133C>A (p.Leu711=)
dbSNP gnomAD v3 gnomAD v4
4g.47936587delCA2670552340CNGA1,NIPAL1c.1895del (p.Leu632ProfsTer20)
c.1907del (p.Leu636ProfsTer20)
c.2114del (p.Leu705ProfsTer20)
n.478+21883del
n.563+21883del
c.2132del (p.Leu711ProfsTer20)
gnomAD v4
4g.47936587A>CCA356823231CNGA1,NIPAL1c.1895T>G (p.Leu632Arg)
c.1907T>G (p.Leu636Arg)
c.2114T>G (p.Leu705Arg)
n.478+21883A>C
n.563+21883A>C
c.2132T>G (p.Leu711Arg)
4g.47936587A>GCA356823232CNGA1,NIPAL1c.1895T>C (p.Leu632Pro)
c.1907T>C (p.Leu636Pro)
c.2114T>C (p.Leu705Pro)
n.478+21883A>G
n.563+21883A>G
c.2132T>C (p.Leu711Pro)
4g.47936587A>TCA356823234CNGA1,NIPAL1c.1895T>A (p.Leu632His)
c.1907T>A (p.Leu636His)
c.2114T>A (p.Leu705His)
n.478+21883A>T
n.563+21883A>T
c.2132T>A (p.Leu711His)
4g.47936588G>ACA356823236CNGA1,NIPAL1c.1894C>T (p.Leu632Phe)
c.1906C>T (p.Leu636Phe)
c.2113C>T (p.Leu705Phe)
n.478+21884G>A
n.563+21884G>A
c.2131C>T (p.Leu711Phe)
4g.47936588G>CCA356823239CNGA1,NIPAL1c.1894C>G (p.Leu632Val)
c.1906C>G (p.Leu636Val)
c.2113C>G (p.Leu705Val)
n.478+21884G>C
n.563+21884G>C
c.2131C>G (p.Leu711Val)
4g.47936588G=CA1455551634CNGA1,NIPAL1c.1894C= (p.Leu632=)
c.1906C= (p.Leu636=)
c.2113C= (p.Leu705=)
n.478+21884G=
n.563+21884G=
c.2131C= (p.Leu711=)
4g.47936588G>TCA2910999CNGA1,NIPAL1c.1894C>A (p.Leu632Ile)
c.1906C>A (p.Leu636Ile)
c.2113C>A (p.Leu705Ile)
n.478+21884G>T
n.563+21884G>T
c.2131C>A (p.Leu711Ile)
dbSNP ExAC gnomAD v2 gnomAD v4
4g.47936589G>ACA439248244CNGA1,NIPAL1c.1893C>T (p.Asp631=)
c.1905C>T (p.Asp635=)
c.2112C>T (p.Asp704=)
n.478+21885G>A
n.563+21885G>A
c.2130C>T (p.Asp710=)
4g.47936589G>CCA356823241CNGA1,NIPAL1c.1893C>G (p.Asp631Glu)
c.1905C>G (p.Asp635Glu)
c.2112C>G (p.Asp704Glu)
n.478+21885G>C
n.563+21885G>C
c.2130C>G (p.Asp710Glu)
dbSNP gnomAD v4
4g.47936589G=CA1455551635CNGA1,NIPAL1c.1893C= (p.Asp631=)
c.1905C= (p.Asp635=)
c.2112C= (p.Asp704=)
n.478+21885G=
n.563+21885G=
c.2130C= (p.Asp710=)
4g.47936589G>TCA356823243CNGA1,NIPAL1c.1893C>A (p.Asp631Glu)
c.1905C>A (p.Asp635Glu)
c.2112C>A (p.Asp704Glu)
n.478+21885G>T
n.563+21885G>T
c.2130C>A (p.Asp710Glu)
dbSNP
4g.47936590T>ACA356823245CNGA1,NIPAL1c.1892A>T (p.Asp631Val)
c.1904A>T (p.Asp635Val)
c.2111A>T (p.Asp704Val)
n.478+21886T>A
n.563+21886T>A
c.2129A>T (p.Asp710Val)
4g.47936590T>CCA2911000CNGA1,NIPAL1c.1892A>G (p.Asp631Gly)
c.1904A>G (p.Asp635Gly)
c.2111A>G (p.Asp704Gly)
n.478+21886T>C
n.563+21886T>C
c.2129A>G (p.Asp710Gly)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.47936590T>GCA356823248CNGA1,NIPAL1c.1892A>C (p.Asp631Ala)
c.1904A>C (p.Asp635Ala)
c.2111A>C (p.Asp704Ala)
n.478+21886T>G
n.563+21886T>G
c.2129A>C (p.Asp710Ala)
4g.47936590T=CA1455551636CNGA1,NIPAL1c.1892A= (p.Asp631=)
c.1904A= (p.Asp635=)
c.2111A= (p.Asp704=)
n.478+21886T=
n.563+21886T=
c.2129A= (p.Asp710=)
4g.47936591C>ACA356823250CNGA1,NIPAL1c.1891G>T (p.Asp631Tyr)
c.1903G>T (p.Asp635Tyr)
c.2110G>T (p.Asp704Tyr)
n.478+21887C>A
n.563+21887C>A
c.2128G>T (p.Asp710Tyr)
ClinVar dbSNP gnomAD v4
4g.47936591C=CA1455551637CNGA1,NIPAL1c.1891G= (p.Asp631=)
c.1903G= (p.Asp635=)
c.2110G= (p.Asp704=)
n.478+21887C=
n.563+21887C=
c.2128G= (p.Asp710=)
4g.47936591C>GCA356823253CNGA1,NIPAL1c.1891G>C (p.Asp631His)
c.1903G>C (p.Asp635His)
c.2110G>C (p.Asp704His)
n.478+21887C>G
n.563+21887C>G
c.2128G>C (p.Asp710His)
4g.47936591C>TCA356823254CNGA1,NIPAL1c.1891G>A (p.Asp631Asn)
c.1903G>A (p.Asp635Asn)
c.2110G>A (p.Asp704Asn)
n.478+21887C>T
n.563+21887C>T
c.2128G>A (p.Asp710Asn)
gnomAD v4
4g.47936592T>ACA439248247CNGA1,NIPAL1c.1890A>T (p.Val630=)
c.1902A>T (p.Val634=)
c.2109A>T (p.Val703=)
n.478+21888T>A
n.563+21888T>A
c.2127A>T (p.Val709=)
4g.47936592T>CCA439248248CNGA1,NIPAL1c.1890A>G (p.Val630=)
c.1902A>G (p.Val634=)
c.2109A>G (p.Val703=)
n.478+21888T>C
n.563+21888T>C
c.2127A>G (p.Val709=)
dbSNP gnomAD v2 gnomAD v4
4g.47936592T>GCA439248249CNGA1,NIPAL1c.1890A>C (p.Val630=)
c.1902A>C (p.Val634=)
c.2109A>C (p.Val703=)
n.478+21888T>G
n.563+21888T>G
c.2127A>C (p.Val709=)
4g.47936592T=CA1455551638CNGA1,NIPAL1c.1890A= (p.Val630=)
c.1902A= (p.Val634=)
c.2109A= (p.Val703=)
n.478+21888T=
n.563+21888T=
c.2127A= (p.Val709=)
4g.47936593A=CA1455551639CNGA1,NIPAL1c.1889T= (p.Val630=)
c.1901T= (p.Val634=)
c.2108T= (p.Val703=)
n.478+21889A=
n.563+21889A=
c.2126T= (p.Val709=)
4g.47936593A>CCA2911001CNGA1,NIPAL1c.1889T>G (p.Val630Gly)
c.1901T>G (p.Val634Gly)
c.2108T>G (p.Val703Gly)
n.478+21889A>C
n.563+21889A>C
c.2126T>G (p.Val709Gly)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.47936593A>GCA356823258CNGA1,NIPAL1c.1889T>C (p.Val630Ala)
c.1901T>C (p.Val634Ala)
c.2108T>C (p.Val703Ala)
n.478+21889A>G
n.563+21889A>G
c.2126T>C (p.Val709Ala)
4g.47936593A>TCA356823260CNGA1,NIPAL1c.1889T>A (p.Val630Glu)
c.1901T>A (p.Val634Glu)
c.2108T>A (p.Val703Glu)
n.478+21889A>T
n.563+21889A>T
c.2126T>A (p.Val709Glu)
4g.47936594C>ACA356823266CNGA1,NIPAL1c.1888G>T (p.Val630Leu)
c.1900G>T (p.Val634Leu)
c.2107G>T (p.Val703Leu)
n.478+21890C>A
n.563+21890C>A
c.2125G>T (p.Val709Leu)
4g.47936594C>GCA356823264CNGA1,NIPAL1c.1888G>C (p.Val630Leu)
c.1900G>C (p.Val634Leu)
c.2107G>C (p.Val703Leu)
n.478+21890C>G
n.563+21890C>G
c.2125G>C (p.Val709Leu)
4g.47936594C>TCA356823262CNGA1,NIPAL1c.1888G>A (p.Val630Ile)
c.1900G>A (p.Val634Ile)
c.2107G>A (p.Val703Ile)
n.478+21890C>T
n.563+21890C>T
c.2125G>A (p.Val709Ile)
4g.47936595T>ACA439248253CNGA1,NIPAL1c.1887A>T (p.Ser629=)
c.1899A>T (p.Ser633=)
c.2106A>T (p.Ser702=)
n.478+21891T>A
n.563+21891T>A
c.2124A>T (p.Ser708=)
4g.47936595T>CCA439248251CNGA1,NIPAL1c.1887A>G (p.Ser629=)
c.1899A>G (p.Ser633=)
c.2106A>G (p.Ser702=)
n.478+21891T>C
n.563+21891T>C
c.2124A>G (p.Ser708=)
4g.47936595T>GCA439248252CNGA1,NIPAL1c.1887A>C (p.Ser629=)
c.1899A>C (p.Ser633=)
c.2106A>C (p.Ser702=)
n.478+21891T>G
n.563+21891T>G
c.2124A>C (p.Ser708=)
4g.47936595dupCA2670552341CNGA1,NIPAL1c.1887dup (p.Val630SerfsTer14)
c.1899dup (p.Val634SerfsTer14)
c.2106dup (p.Val703SerfsTer14)
n.478+21891dup
n.563+21891dup
c.2124dup (p.Val709SerfsTer14)
gnomAD v4
4g.47936596G>ACA356823269CNGA1,NIPAL1c.1886C>T (p.Ser629Leu)
c.1898C>T (p.Ser633Leu)
c.2105C>T (p.Ser702Leu)
n.478+21892G>A
n.563+21892G>A
c.2123C>T (p.Ser708Leu)
4g.47936596G>CCA356823271CNGA1,NIPAL1c.1886C>G (p.Ser629Ter)
c.1898C>G (p.Ser633Ter)
c.2105C>G (p.Ser702Ter)
n.478+21892G>C
n.563+21892G>C
c.2123C>G (p.Ser708Ter)
4g.47936596G>TCA356823273CNGA1,NIPAL1c.1886C>A (p.Ser629Ter)
c.1898C>A (p.Ser633Ter)
c.2105C>A (p.Ser702Ter)
n.478+21892G>T
n.563+21892G>T
c.2123C>A (p.Ser708Ter)
COSMIC
4g.47936597A>CCA356823276CNGA1,NIPAL1c.1885T>G (p.Ser629Ala)
c.1897T>G (p.Ser633Ala)
c.2104T>G (p.Ser702Ala)
n.478+21893A>C
n.563+21893A>C
c.2122T>G (p.Ser708Ala)
4g.47936597A>GCA356823277CNGA1,NIPAL1c.1885T>C (p.Ser629Pro)
c.1897T>C (p.Ser633Pro)
c.2104T>C (p.Ser702Pro)
n.478+21893A>G
n.563+21893A>G
c.2122T>C (p.Ser708Pro)
4g.47936597A>TCA356823279CNGA1,NIPAL1c.1885T>A (p.Ser629Thr)
c.1897T>A (p.Ser633Thr)
c.2104T>A (p.Ser702Thr)
n.478+21893A>T
n.563+21893A>T
c.2122T>A (p.Ser708Thr)
4g.47936598C>ACA439248254CNGA1,NIPAL1c.1884G>T (p.Gly628=)
c.1896G>T (p.Gly632=)
c.2103G>T (p.Gly701=)
n.478+21894C>A
n.563+21894C>A
c.2121G>T (p.Gly707=)
gnomAD v4
4g.47936598C>GCA439248255CNGA1,NIPAL1c.1884G>C (p.Gly628=)
c.1896G>C (p.Gly632=)
c.2103G>C (p.Gly701=)
n.478+21894C>G
n.563+21894C>G
c.2121G>C (p.Gly707=)
4g.47936598C>TCA439248256CNGA1,NIPAL1c.1884G>A (p.Gly628=)
c.1896G>A (p.Gly632=)
c.2103G>A (p.Gly701=)
n.478+21894C>T
n.563+21894C>T
c.2121G>A (p.Gly707=)
4g.47936600_47936601delCA2670552342CNGA1,NIPAL1c.1883_1884del (p.Gly628ValfsTer15)
c.1895_1896del (p.Gly632ValfsTer15)
c.2102_2103del (p.Gly701ValfsTer15)
n.478+21896_478+21897del
n.563+21896_563+21897del
c.2120_2121del (p.Gly707ValfsTer15)
gnomAD v4
4g.47936599C>ACA356823282CNGA1,NIPAL1c.1883G>T (p.Gly628Val)
c.1895G>T (p.Gly632Val)
c.2102G>T (p.Gly701Val)
n.478+21895C>A
n.563+21895C>A
c.2120G>T (p.Gly707Val)
4g.47936599C>GCA356823284CNGA1,NIPAL1c.1883G>C (p.Gly628Ala)
c.1895G>C (p.Gly632Ala)
c.2102G>C (p.Gly701Ala)
n.478+21895C>G
n.563+21895C>G
c.2120G>C (p.Gly707Ala)
gnomAD v4
4g.47936599C>TCA356823286CNGA1,NIPAL1c.1883G>A (p.Gly628Glu)
c.1895G>A (p.Gly632Glu)
c.2102G>A (p.Gly701Glu)
n.478+21895C>T
n.563+21895C>T
c.2120G>A (p.Gly707Glu)
COSMIC
4g.47936600C>ACA356823288CNGA1,NIPAL1c.1882G>T (p.Gly628Trp)
c.1894G>T (p.Gly632Trp)
c.2101G>T (p.Gly701Trp)
n.478+21896C>A
n.563+21896C>A
c.2119G>T (p.Gly707Trp)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.47936600C=CA1455551640CNGA1,NIPAL1c.1882G= (p.Gly628=)
c.1894G= (p.Gly632=)
c.2101G= (p.Gly701=)
n.478+21896C=
n.563+21896C=
c.2119G= (p.Gly707=)
4g.47936600C>GCA356823291CNGA1,NIPAL1c.1882G>C (p.Gly628Arg)
c.1894G>C (p.Gly632Arg)
c.2101G>C (p.Gly701Arg)
n.478+21896C>G
n.563+21896C>G
c.2119G>C (p.Gly707Arg)
4g.47936600C>TCA356823293CNGA1,NIPAL1c.1882G>A (p.Gly628Arg)
c.1894G>A (p.Gly632Arg)
c.2101G>A (p.Gly701Arg)
n.478+21896C>T
n.563+21896C>T
c.2119G>A (p.Gly707Arg)
dbSNP gnomAD v3 gnomAD v4
4g.47936601C>ACA356823299CNGA1,NIPAL1c.1881G>T (p.Glu627Asp)
c.1893G>T (p.Glu631Asp)
c.2100G>T (p.Glu700Asp)
n.478+21897C>A
n.563+21897C>A
c.2118G>T (p.Glu706Asp)
4g.47936601C=CA1455551641CNGA1,NIPAL1c.1881G= (p.Glu627=)
c.1893G= (p.Glu631=)
c.2100G= (p.Glu700=)
n.478+21897C=
n.563+21897C=
c.2118G= (p.Glu706=)
4g.47936601C>GCA356823297CNGA1,NIPAL1c.1881G>C (p.Glu627Asp)
c.1893G>C (p.Glu631Asp)
c.2100G>C (p.Glu700Asp)
n.478+21897C>G
n.563+21897C>G
c.2118G>C (p.Glu706Asp)
4g.47936601C>TCA96687982CNGA1,NIPAL1c.1881G>A (p.Glu627=)
c.1893G>A (p.Glu631=)
c.2100G>A (p.Glu700=)
n.478+21897C>T
n.563+21897C>T
c.2118G>A (p.Glu706=)
dbSNP
4g.47936602_47936603dupCA2670552343CNGA1,NIPAL1c.1880_1881dup (p.Gly628ArgfsTer4)
c.1892_1893dup (p.Gly632ArgfsTer4)
c.2099_2100dup (p.Gly701ArgfsTer4)
n.478+21898_478+21899dup
n.563+21898_563+21899dup
c.2117_2118dup (p.Gly707ArgfsTer4)
gnomAD v4
4g.47936602T>ACA356823301CNGA1,NIPAL1c.1880A>T (p.Glu627Val)
c.1892A>T (p.Glu631Val)
c.2099A>T (p.Glu700Val)
n.478+21898T>A
n.563+21898T>A
c.2117A>T (p.Glu706Val)
4g.47936602T>CCA356823306CNGA1,NIPAL1c.1880A>G (p.Glu627Gly)
c.1892A>G (p.Glu631Gly)
c.2099A>G (p.Glu700Gly)
n.478+21898T>C
n.563+21898T>C
c.2117A>G (p.Glu706Gly)
4g.47936602T>GCA356823303CNGA1,NIPAL1c.1880A>C (p.Glu627Ala)
c.1892A>C (p.Glu631Ala)
c.2099A>C (p.Glu700Ala)
n.478+21898T>G
n.563+21898T>G
c.2117A>C (p.Glu706Ala)
4g.47936603C>ACA356823308CNGA1,NIPAL1c.1879G>T (p.Glu627Ter)
c.1891G>T (p.Glu631Ter)
c.2098G>T (p.Glu700Ter)
n.478+21899C>A
n.563+21899C>A
c.2116G>T (p.Glu706Ter)
4g.47936603C=CA1455551642CNGA1,NIPAL1c.1879G= (p.Glu627=)
c.1891G= (p.Glu631=)
c.2098G= (p.Glu700=)
n.478+21899C=
n.563+21899C=
c.2116G= (p.Glu706=)
4g.47936603C>GCA356823310CNGA1,NIPAL1c.1879G>C (p.Glu627Gln)
c.1891G>C (p.Glu631Gln)
c.2098G>C (p.Glu700Gln)
n.478+21899C>G
n.563+21899C>G
c.2116G>C (p.Glu706Gln)
dbSNP gnomAD v2 gnomAD v4
4g.47936603C>TCA356823312CNGA1,NIPAL1c.1879G>A (p.Glu627Lys)
c.1891G>A (p.Glu631Lys)
c.2098G>A (p.Glu700Lys)
n.478+21899C>T
n.563+21899C>T
c.2116G>A (p.Glu706Lys)
dbSNP
4g.47936604C>ACA356823315CNGA1,NIPAL1c.1878G>T (p.Met626Ile)
c.1890G>T (p.Met630Ile)
c.2097G>T (p.Met699Ile)
n.478+21900C>A
n.563+21900C>A
c.2115G>T (p.Met705Ile)
4g.47936604C>GCA356823316CNGA1,NIPAL1c.1878G>C (p.Met626Ile)
c.1890G>C (p.Met630Ile)
c.2097G>C (p.Met699Ile)
n.478+21900C>G
n.563+21900C>G
c.2115G>C (p.Met705Ile)
4g.47936604C>TCA356823318CNGA1,NIPAL1c.1878G>A (p.Met626Ile)
c.1890G>A (p.Met630Ile)
c.2097G>A (p.Met699Ile)
n.478+21900C>T
n.563+21900C>T
c.2115G>A (p.Met705Ile)
gnomAD v4
4g.47936605_47936606insACCAAACACACCCAACACACA2761332293CNGA1,NIPAL1c.1878_1879insTGTTGGGTGTGTTTGGTTG (p.Glu627CysfsTer23)
c.1890_1891insTGTTGGGTGTGTTTGGTTG (p.Glu631CysfsTer23)
c.2097_2098insTGTTGGGTGTGTTTGGTTG (p.Glu700CysfsTer23)
n.478+21901_478+21902insACCAAACACACCCAACACA
n.563+21901_563+21902insACCAAACACACCCAACACA
c.2115_2116insTGTTGGGTGTGTTTGGTTG (p.Glu706CysfsTer23)
4g.47936605A=CA1455551643CNGA1,NIPAL1c.1877T= (p.Met626=)
c.1889T= (p.Met630=)
c.2096T= (p.Met699=)
n.478+21901A=
n.563+21901A=
c.2114T= (p.Met705=)
4g.47936605A>CCA356823321CNGA1,NIPAL1c.1877T>G (p.Met626Arg)
c.1889T>G (p.Met630Arg)
c.2096T>G (p.Met699Arg)
n.478+21901A>C
n.563+21901A>C
c.2114T>G (p.Met705Arg)
4g.47936605A>GCA356823323CNGA1,NIPAL1c.1877T>C (p.Met626Thr)
c.1889T>C (p.Met630Thr)
c.2096T>C (p.Met699Thr)
n.478+21901A>G
n.563+21901A>G
c.2114T>C (p.Met705Thr)
dbSNP
4g.47936605A>TCA356823325CNGA1,NIPAL1c.1877T>A (p.Met626Lys)
c.1889T>A (p.Met630Lys)
c.2096T>A (p.Met699Lys)
n.478+21901A>T
n.563+21901A>T
c.2114T>A (p.Met705Lys)
4g.47936606T>ACA356823328CNGA1,NIPAL1c.1876A>T (p.Met626Leu)
c.1888A>T (p.Met630Leu)
c.2095A>T (p.Met699Leu)
n.478+21902T>A
n.563+21902T>A
c.2113A>T (p.Met705Leu)
4g.47936606T>CCA356823330CNGA1,NIPAL1c.1876A>G (p.Met626Val)
c.1888A>G (p.Met630Val)
c.2095A>G (p.Met699Val)
n.478+21902T>C
n.563+21902T>C
c.2113A>G (p.Met705Val)
4g.47936606T>GCA356823331CNGA1,NIPAL1c.1876A>C (p.Met626Leu)
c.1888A>C (p.Met630Leu)
c.2095A>C (p.Met699Leu)
n.478+21902T>G
n.563+21902T>G
c.2113A>C (p.Met705Leu)
4g.47936607T>ACA439248260CNGA1,NIPAL1c.1875A>T (p.Arg625=)
c.1887A>T (p.Arg629=)
c.2094A>T (p.Arg698=)
n.478+21903T>A
n.563+21903T>A
c.2112A>T (p.Arg704=)
4g.47936607T>CCA439248262CNGA1,NIPAL1c.1875A>G (p.Arg625=)
c.1887A>G (p.Arg629=)
c.2094A>G (p.Arg698=)
n.478+21903T>C
n.563+21903T>C
c.2112A>G (p.Arg704=)
4g.47936607T>GCA439248261CNGA1,NIPAL1c.1875A>C (p.Arg625=)
c.1887A>C (p.Arg629=)
c.2094A>C (p.Arg698=)
n.478+21903T>G
n.563+21903T>G
c.2112A>C (p.Arg704=)
4g.47936608C>ACA356823336CNGA1,NIPAL1c.1874G>T (p.Arg625Leu)
c.1886G>T (p.Arg629Leu)
c.2093G>T (p.Arg698Leu)
n.478+21904C>A
n.563+21904C>A
c.2111G>T (p.Arg704Leu)
ClinVar dbSNP gnomAD v2 gnomAD v4
4g.47936608C=CA1455551644CNGA1,NIPAL1c.1874G= (p.Arg625=)
c.1886G= (p.Arg629=)
c.2093G= (p.Arg698=)
n.478+21904C=
n.563+21904C=
c.2111G= (p.Arg704=)
4g.47936608C>GCA356823333CNGA1,NIPAL1c.1874G>C (p.Arg625Pro)
c.1886G>C (p.Arg629Pro)
c.2093G>C (p.Arg698Pro)
n.478+21904C>G
n.563+21904C>G
c.2111G>C (p.Arg704Pro)
gnomAD v4
4g.47936608C>TCA2911002CNGA1,NIPAL1c.1874G>A (p.Arg625Gln)
c.1886G>A (p.Arg629Gln)
c.2093G>A (p.Arg698Gln)
n.478+21904C>T
n.563+21904C>T
c.2111G>A (p.Arg704Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
4g.47936609G>ACA2911003CNGA1,NIPAL1c.1873C>T (p.Arg625Ter)
c.1885C>T (p.Arg629Ter)
c.2092C>T (p.Arg698Ter)
n.478+21905G>A
n.563+21905G>A
c.2110C>T (p.Arg704Ter)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.47936609G>CCA356823341CNGA1,NIPAL1c.1873C>G (p.Arg625Gly)
c.1885C>G (p.Arg629Gly)
c.2092C>G (p.Arg698Gly)
n.478+21905G>C
n.563+21905G>C
c.2110C>G (p.Arg704Gly)
4g.47936609G=CA1455551645CNGA1,NIPAL1c.1873C= (p.Arg625=)
c.1885C= (p.Arg629=)
c.2092C= (p.Arg698=)
n.478+21905G=
n.563+21905G=
c.2110C= (p.Arg704=)
4g.47936609G>TCA96688008CNGA1,NIPAL1c.1873C>A (p.Arg625=)
c.1885C>A (p.Arg629=)
c.2092C>A (p.Arg698=)
n.478+21905G>T
n.563+21905G>T
c.2110C>A (p.Arg704=)
dbSNP gnomAD v3 gnomAD v4

Number of alleles fetched