Chr Mutation (hg38) CAid Gene Transcript Linkouts
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
4g.47936610A>CCA439248267CNGA1,NIPAL1c.1872T>G (p.Thr624=)
c.1884T>G (p.Thr628=)
c.2091T>G (p.Thr697=)
n.478+21906A>C
n.563+21906A>C
c.2109T>G (p.Thr703=)
4g.47936610A>GCA439248268CNGA1,NIPAL1c.1872T>C (p.Thr624=)
c.1884T>C (p.Thr628=)
c.2091T>C (p.Thr697=)
n.478+21906A>G
n.563+21906A>G
c.2109T>C (p.Thr703=)
4g.47936610A>TCA439248269CNGA1,NIPAL1c.1872T>A (p.Thr624=)
c.1884T>A (p.Thr628=)
c.2091T>A (p.Thr697=)
n.478+21906A>T
n.563+21906A>T
c.2109T>A (p.Thr703=)
4g.47936611G>ACA356823344CNGA1,NIPAL1c.1871C>T (p.Thr624Ile)
c.1883C>T (p.Thr628Ile)
c.2090C>T (p.Thr697Ile)
n.478+21907G>A
n.563+21907G>A
c.2108C>T (p.Thr703Ile)
4g.47936611G>CCA356823345CNGA1,NIPAL1c.1871C>G (p.Thr624Ser)
c.1883C>G (p.Thr628Ser)
c.2090C>G (p.Thr697Ser)
n.478+21907G>C
n.563+21907G>C
c.2108C>G (p.Thr703Ser)
 gnomAD v4
4g.47936611G>TCA356823347CNGA1,NIPAL1c.1871C>A (p.Thr624Asn)
c.1883C>A (p.Thr628Asn)
c.2090C>A (p.Thr697Asn)
n.478+21907G>T
n.563+21907G>T
c.2108C>A (p.Thr703Asn)
4g.47936612T>ACA356823350CNGA1,NIPAL1c.1870A>T (p.Thr624Ser)
c.1882A>T (p.Thr628Ser)
c.2089A>T (p.Thr697Ser)
n.478+21908T>A
n.563+21908T>A
c.2107A>T (p.Thr703Ser)
4g.47936612T>CCA356823352CNGA1,NIPAL1c.1870A>G (p.Thr624Ala)
c.1882A>G (p.Thr628Ala)
c.2089A>G (p.Thr697Ala)
n.478+21908T>C
n.563+21908T>C
c.2107A>G (p.Thr703Ala)
4g.47936612T>GCA356823353CNGA1,NIPAL1c.1870A>C (p.Thr624Pro)
c.1882A>C (p.Thr628Pro)
c.2089A>C (p.Thr697Pro)
n.478+21908T>G
n.563+21908T>G
c.2107A>C (p.Thr703Pro)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.47936612T=CA1455551646CNGA1,NIPAL1c.1870A= (p.Thr624=)
c.1882A= (p.Thr628=)
c.2089A= (p.Thr697=)
n.478+21908T=
n.563+21908T=
c.2107A= (p.Thr703=)
4g.47936613A>CCA439248273CNGA1,NIPAL1c.1869T>G (p.Val623=)
c.1881T>G (p.Val627=)
c.2088T>G (p.Val696=)
n.478+21909A>C
n.563+21909A>C
c.2106T>G (p.Val702=)
4g.47936613A>GCA439248274CNGA1,NIPAL1c.1869T>C (p.Val623=)
c.1881T>C (p.Val627=)
c.2088T>C (p.Val696=)
n.478+21909A>G
n.563+21909A>G
c.2106T>C (p.Val702=)
4g.47936613A>TCA439248276CNGA1,NIPAL1c.1869T>A (p.Val623=)
c.1881T>A (p.Val627=)
c.2088T>A (p.Val696=)
n.478+21909A>T
n.563+21909A>T
c.2106T>A (p.Val702=)
4g.47936614A>CCA356823356CNGA1,NIPAL1c.1868T>G (p.Val623Gly)
c.1880T>G (p.Val627Gly)
c.2087T>G (p.Val696Gly)
n.478+21910A>C
n.563+21910A>C
c.2105T>G (p.Val702Gly)
4g.47936614A>GCA356823357CNGA1,NIPAL1c.1868T>C (p.Val623Ala)
c.1880T>C (p.Val627Ala)
c.2087T>C (p.Val696Ala)
n.478+21910A>G
n.563+21910A>G
c.2105T>C (p.Val702Ala)
4g.47936614A>TCA356823359CNGA1,NIPAL1c.1868T>A (p.Val623Asp)
c.1880T>A (p.Val627Asp)
c.2087T>A (p.Val696Asp)
n.478+21910A>T
n.563+21910A>T
c.2105T>A (p.Val702Asp)
4g.47936615C>ACA2911004CNGA1,NIPAL1c.1867G>T (p.Val623Phe)
c.1879G>T (p.Val627Phe)
c.2086G>T (p.Val696Phe)
n.478+21911C>A
n.563+21911C>A
c.2104G>T (p.Val702Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.47936615C=CA1455551647CNGA1,NIPAL1c.1867G= (p.Val623=)
c.1879G= (p.Val627=)
c.2086G= (p.Val696=)
n.478+21911C=
n.563+21911C=
c.2104G= (p.Val702=)
4g.47936615C>GCA356823364CNGA1,NIPAL1c.1867G>C (p.Val623Leu)
c.1879G>C (p.Val627Leu)
c.2086G>C (p.Val696Leu)
n.478+21911C>G
n.563+21911C>G
c.2104G>C (p.Val702Leu)
4g.47936615C>TCA356823362CNGA1,NIPAL1c.1867G>A (p.Val623Ile)
c.1879G>A (p.Val627Ile)
c.2086G>A (p.Val696Ile)
n.478+21911C>T
n.563+21911C>T
c.2104G>A (p.Val702Ile)
 dbSNP gnomAD v3 gnomAD v4
4g.47936616delCA2670552344CNGA1,NIPAL1c.1867del (p.Val623LeufsTer8)
c.1879del (p.Val627LeufsTer8)
c.2086del (p.Val696LeufsTer8)
n.478+21912del
n.563+21912del
c.2104del (p.Val702LeufsTer8)
 gnomAD v4
4g.47936616C>ACA356823368CNGA1,NIPAL1c.1866G>T (p.Lys622Asn)
c.1878G>T (p.Lys626Asn)
c.2085G>T (p.Lys695Asn)
n.478+21912C>A
n.563+21912C>A
c.2103G>T (p.Lys701Asn)
4g.47936616C>GCA356823370CNGA1,NIPAL1c.1866G>C (p.Lys622Asn)
c.1878G>C (p.Lys626Asn)
c.2085G>C (p.Lys695Asn)
n.478+21912C>G
n.563+21912C>G
c.2103G>C (p.Lys701Asn)
4g.47936616C>TCA439248281CNGA1,NIPAL1c.1866G>A (p.Lys622=)
c.1878G>A (p.Lys626=)
c.2085G>A (p.Lys695=)
n.478+21912C>T
n.563+21912C>T
c.2103G>A (p.Lys701=)
4g.47936617T>ACA356823372CNGA1,NIPAL1c.1865A>T (p.Lys622Met)
c.1877A>T (p.Lys626Met)
c.2084A>T (p.Lys695Met)
n.478+21913T>A
n.563+21913T>A
c.2102A>T (p.Lys701Met)
4g.47936617T>CCA356823373CNGA1,NIPAL1c.1865A>G (p.Lys622Arg)
c.1877A>G (p.Lys626Arg)
c.2084A>G (p.Lys695Arg)
n.478+21913T>C
n.563+21913T>C
c.2102A>G (p.Lys701Arg)
4g.47936617T>GCA356823375CNGA1,NIPAL1c.1865A>C (p.Lys622Thr)
c.1877A>C (p.Lys626Thr)
c.2084A>C (p.Lys695Thr)
n.478+21913T>G
n.563+21913T>G
c.2102A>C (p.Lys701Thr)
4g.47936618T>ACA356823376CNGA1,NIPAL1c.1864A>T (p.Lys622Ter)
c.1876A>T (p.Lys626Ter)
c.2083A>T (p.Lys695Ter)
n.478+21914T>A
n.563+21914T>A
c.2101A>T (p.Lys701Ter)
4g.47936618T>CCA356823377CNGA1,NIPAL1c.1864A>G (p.Lys622Glu)
c.1876A>G (p.Lys626Glu)
c.2083A>G (p.Lys695Glu)
n.478+21914T>C
n.563+21914T>C
c.2101A>G (p.Lys701Glu)
4g.47936618T>GCA2911005CNGA1,NIPAL1c.1864A>C (p.Lys622Gln)
c.1876A>C (p.Lys626Gln)
c.2083A>C (p.Lys695Gln)
n.478+21914T>G
n.563+21914T>G
c.2101A>C (p.Lys701Gln)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.47936618T=CA1455551648CNGA1,NIPAL1c.1864A= (p.Lys622=)
c.1876A= (p.Lys626=)
c.2083A= (p.Lys695=)
n.478+21914T=
n.563+21914T=
c.2101A= (p.Lys701=)
4g.47936619C>ACA356823381CNGA1,NIPAL1c.1863G>T (p.Glu621Asp)
c.1875G>T (p.Glu625Asp)
c.2082G>T (p.Glu694Asp)
n.478+21915C>A
n.563+21915C>A
c.2100G>T (p.Glu700Asp)
4g.47936619C>GCA356823383CNGA1,NIPAL1c.1863G>C (p.Glu621Asp)
c.1875G>C (p.Glu625Asp)
c.2082G>C (p.Glu694Asp)
n.478+21915C>G
n.563+21915C>G
c.2100G>C (p.Glu700Asp)
4g.47936619C>TCA439248285CNGA1,NIPAL1c.1863G>A (p.Glu621=)
c.1875G>A (p.Glu625=)
c.2082G>A (p.Glu694=)
n.478+21915C>T
n.563+21915C>T
c.2100G>A (p.Glu700=)
4g.47936620T>ACA356823386CNGA1,NIPAL1c.1862A>T (p.Glu621Val)
c.1874A>T (p.Glu625Val)
c.2081A>T (p.Glu694Val)
n.478+21916T>A
n.563+21916T>A
c.2099A>T (p.Glu700Val)
4g.47936620T>CCA356823388CNGA1,NIPAL1c.1862A>G (p.Glu621Gly)
c.1874A>G (p.Glu625Gly)
c.2081A>G (p.Glu694Gly)
n.478+21916T>C
n.563+21916T>C
c.2099A>G (p.Glu700Gly)
4g.47936620T>GCA356823390CNGA1,NIPAL1c.1862A>C (p.Glu621Ala)
c.1874A>C (p.Glu625Ala)
c.2081A>C (p.Glu694Ala)
n.478+21916T>G
n.563+21916T>G
c.2099A>C (p.Glu700Ala)
4g.47936621C>ACA356823396CNGA1,NIPAL1c.1861G>T (p.Glu621Ter)
c.1873G>T (p.Glu625Ter)
c.2080G>T (p.Glu694Ter)
n.478+21917C>A
n.563+21917C>A
c.2098G>T (p.Glu700Ter)
4g.47936621C>GCA356823393CNGA1,NIPAL1c.1861G>C (p.Glu621Gln)
c.1873G>C (p.Glu625Gln)
c.2080G>C (p.Glu694Gln)
n.478+21917C>G
n.563+21917C>G
c.2098G>C (p.Glu700Gln)
4g.47936621C>TCA356823394CNGA1,NIPAL1c.1861G>A (p.Glu621Lys)
c.1873G>A (p.Glu625Lys)
c.2080G>A (p.Glu694Lys)
n.478+21917C>T
n.563+21917C>T
c.2098G>A (p.Glu700Lys)
 gnomAD v4
4g.47936622T>ACA356823399CNGA1,NIPAL1c.1860A>T (p.Glu620Asp)
c.1872A>T (p.Glu624Asp)
c.2079A>T (p.Glu693Asp)
n.478+21918T>A
n.563+21918T>A
c.2097A>T (p.Glu699Asp)
4g.47936622T>CCA439248288CNGA1,NIPAL1c.1860A>G (p.Glu620=)
c.1872A>G (p.Glu624=)
c.2079A>G (p.Glu693=)
n.478+21918T>C
n.563+21918T>C
c.2097A>G (p.Glu699=)
 gnomAD v4
4g.47936622T>GCA356823401CNGA1,NIPAL1c.1860A>C (p.Glu620Asp)
c.1872A>C (p.Glu624Asp)
c.2079A>C (p.Glu693Asp)
n.478+21918T>G
n.563+21918T>G
c.2097A>C (p.Glu699Asp)
4g.47936623T>ACA356823403CNGA1,NIPAL1c.1859A>T (p.Glu620Val)
c.1871A>T (p.Glu624Val)
c.2078A>T (p.Glu693Val)
n.478+21919T>A
n.563+21919T>A
c.2096A>T (p.Glu699Val)
4g.47936623T>CCA356823404CNGA1,NIPAL1c.1859A>G (p.Glu620Gly)
c.1871A>G (p.Glu624Gly)
c.2078A>G (p.Glu693Gly)
n.478+21919T>C
n.563+21919T>C
c.2096A>G (p.Glu699Gly)
 dbSNP gnomAD v2 gnomAD v4
4g.47936623T>GCA356823406CNGA1,NIPAL1c.1859A>C (p.Glu620Ala)
c.1871A>C (p.Glu624Ala)
c.2078A>C (p.Glu693Ala)
n.478+21919T>G
n.563+21919T>G
c.2096A>C (p.Glu699Ala)
4g.47936623T=CA1455551649CNGA1,NIPAL1c.1859A= (p.Glu620=)
c.1871A= (p.Glu624=)
c.2078A= (p.Glu693=)
n.478+21919T=
n.563+21919T=
c.2096A= (p.Glu699=)
4g.47936624C>ACA356823410CNGA1,NIPAL1c.1858G>T (p.Glu620Ter)
c.1870G>T (p.Glu624Ter)
c.2077G>T (p.Glu693Ter)
n.478+21920C>A
n.563+21920C>A
c.2095G>T (p.Glu699Ter)
4g.47936624C>GCA356823411CNGA1,NIPAL1c.1858G>C (p.Glu620Gln)
c.1870G>C (p.Glu624Gln)
c.2077G>C (p.Glu693Gln)
n.478+21920C>G
n.563+21920C>G
c.2095G>C (p.Glu699Gln)
4g.47936624C>TCA356823413CNGA1,NIPAL1c.1858G>A (p.Glu620Lys)
c.1870G>A (p.Glu624Lys)
c.2077G>A (p.Glu693Lys)
n.478+21920C>T
n.563+21920C>T
c.2095G>A (p.Glu699Lys)
 ClinVar gnomAD v4
4g.47936625A>CCA439248290CNGA1,NIPAL1c.1857T>G (p.Leu619=)
c.1869T>G (p.Leu623=)
c.2076T>G (p.Leu692=)
n.478+21921A>C
n.563+21921A>C
c.2094T>G (p.Leu698=)
4g.47936625A>GCA439248291CNGA1,NIPAL1c.1857T>C (p.Leu619=)
c.1869T>C (p.Leu623=)
c.2076T>C (p.Leu692=)
n.478+21921A>G
n.563+21921A>G
c.2094T>C (p.Leu698=)
4g.47936625A>TCA439248292CNGA1,NIPAL1c.1857T>A (p.Leu619=)
c.1869T>A (p.Leu623=)
c.2076T>A (p.Leu692=)
n.478+21921A>T
n.563+21921A>T
c.2094T>A (p.Leu698=)
4g.47936626A>CCA356823416CNGA1,NIPAL1c.1856T>G (p.Leu619Arg)
c.1868T>G (p.Leu623Arg)
c.2075T>G (p.Leu692Arg)
n.478+21922A>C
n.563+21922A>C
c.2093T>G (p.Leu698Arg)
4g.47936626A>GCA356823418CNGA1,NIPAL1c.1856T>C (p.Leu619Pro)
c.1868T>C (p.Leu623Pro)
c.2075T>C (p.Leu692Pro)
n.478+21922A>G
n.563+21922A>G
c.2093T>C (p.Leu698Pro)
4g.47936626A>TCA356823420CNGA1,NIPAL1c.1856T>A (p.Leu619His)
c.1868T>A (p.Leu623His)
c.2075T>A (p.Leu692His)
n.478+21922A>T
n.563+21922A>T
c.2093T>A (p.Leu698His)
4g.47936627G>ACA356823426CNGA1,NIPAL1c.1855C>T (p.Leu619Phe)
c.1867C>T (p.Leu623Phe)
c.2074C>T (p.Leu692Phe)
n.478+21923G>A
n.563+21923G>A
c.2092C>T (p.Leu698Phe)
 dbSNP gnomAD v2 gnomAD v4
4g.47936627G>CCA356823424CNGA1,NIPAL1c.1855C>G (p.Leu619Val)
c.1867C>G (p.Leu623Val)
c.2074C>G (p.Leu692Val)
n.478+21923G>C
n.563+21923G>C
c.2092C>G (p.Leu698Val)
4g.47936627G=CA1455551650CNGA1,NIPAL1c.1855C= (p.Leu619=)
c.1867C= (p.Leu623=)
c.2074C= (p.Leu692=)
n.478+21923G=
n.563+21923G=
c.2092C= (p.Leu698=)
4g.47936627G>TCA356823422CNGA1,NIPAL1c.1855C>A (p.Leu619Ile)
c.1867C>A (p.Leu623Ile)
c.2074C>A (p.Leu692Ile)
n.478+21923G>T
n.563+21923G>T
c.2092C>A (p.Leu698Ile)
4g.47936628A>CCA356823428CNGA1,NIPAL1c.1854T>G (p.Asp618Glu)
c.1866T>G (p.Asp622Glu)
c.2073T>G (p.Asp691Glu)
n.478+21924A>C
n.563+21924A>C
c.2091T>G (p.Asp697Glu)
4g.47936628A>GCA439248295CNGA1,NIPAL1c.1854T>C (p.Asp618=)
c.1866T>C (p.Asp622=)
c.2073T>C (p.Asp691=)
n.478+21924A>G
n.563+21924A>G
c.2091T>C (p.Asp697=)
4g.47936628A>TCA356823430CNGA1,NIPAL1c.1854T>A (p.Asp618Glu)
c.1866T>A (p.Asp622Glu)
c.2073T>A (p.Asp691Glu)
n.478+21924A>T
n.563+21924A>T
c.2091T>A (p.Asp697Glu)
4g.47936629T>ACA356823432CNGA1,NIPAL1c.1853A>T (p.Asp618Val)
c.1865A>T (p.Asp622Val)
c.2072A>T (p.Asp691Val)
n.478+21925T>A
n.563+21925T>A
c.2090A>T (p.Asp697Val)
4g.47936629T>CCA2911006CNGA1,NIPAL1c.1853A>G (p.Asp618Gly)
c.1865A>G (p.Asp622Gly)
c.2072A>G (p.Asp691Gly)
n.478+21925T>C
n.563+21925T>C
c.2090A>G (p.Asp697Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.47936629T>GCA356823434CNGA1,NIPAL1c.1853A>C (p.Asp618Ala)
c.1865A>C (p.Asp622Ala)
c.2072A>C (p.Asp691Ala)
n.478+21925T>G
n.563+21925T>G
c.2090A>C (p.Asp697Ala)
4g.47936629T=CA1455551651CNGA1,NIPAL1c.1853A= (p.Asp618=)
c.1865A= (p.Asp622=)
c.2072A= (p.Asp691=)
n.478+21925T=
n.563+21925T=
c.2090A= (p.Asp697=)
4g.47936630C>ACA356823438CNGA1,NIPAL1c.1852G>T (p.Asp618Tyr)
c.1864G>T (p.Asp622Tyr)
c.2071G>T (p.Asp691Tyr)
n.478+21926C>A
n.563+21926C>A
c.2089G>T (p.Asp697Tyr)
4g.47936630C=CA1455551652CNGA1,NIPAL1c.1852G= (p.Asp618=)
c.1864G= (p.Asp622=)
c.2071G= (p.Asp691=)
n.478+21926C=
n.563+21926C=
c.2089G= (p.Asp697=)
4g.47936630C>GCA356823442CNGA1,NIPAL1c.1852G>C (p.Asp618His)
c.1864G>C (p.Asp622His)
c.2071G>C (p.Asp691His)
n.478+21926C>G
n.563+21926C>G
c.2089G>C (p.Asp697His)
 dbSNP gnomAD v3 gnomAD v4
4g.47936630C>TCA356823440CNGA1,NIPAL1c.1852G>A (p.Asp618Asn)
c.1864G>A (p.Asp622Asn)
c.2071G>A (p.Asp691Asn)
n.478+21926C>T
n.563+21926C>T
c.2089G>A (p.Asp697Asn)
 gnomAD v4
4g.47936631T>ACA356823445CNGA1,NIPAL1c.1851A>T (p.Lys617Asn)
c.1863A>T (p.Lys621Asn)
c.2070A>T (p.Lys690Asn)
n.478+21927T>A
n.563+21927T>A
c.2088A>T (p.Lys696Asn)
4g.47936631T>CCA439248298CNGA1,NIPAL1c.1851A>G (p.Lys617=)
c.1863A>G (p.Lys621=)
c.2070A>G (p.Lys690=)
n.478+21927T>C
n.563+21927T>C
c.2088A>G (p.Lys696=)
4g.47936631T>GCA356823447CNGA1,NIPAL1c.1851A>C (p.Lys617Asn)
c.1863A>C (p.Lys621Asn)
c.2070A>C (p.Lys690Asn)
n.478+21927T>G
n.563+21927T>G
c.2088A>C (p.Lys696Asn)
4g.47936632T>ACA356823448CNGA1,NIPAL1c.1850A>T (p.Lys617Ile)
c.1862A>T (p.Lys621Ile)
c.2069A>T (p.Lys690Ile)
n.478+21928T>A
n.563+21928T>A
c.2087A>T (p.Lys696Ile)
4g.47936632T>CCA356823451CNGA1,NIPAL1c.1850A>G (p.Lys617Arg)
c.1862A>G (p.Lys621Arg)
c.2069A>G (p.Lys690Arg)
n.478+21928T>C
n.563+21928T>C
c.2087A>G (p.Lys696Arg)
4g.47936632T>GCA356823453CNGA1,NIPAL1c.1850A>C (p.Lys617Thr)
c.1862A>C (p.Lys621Thr)
c.2069A>C (p.Lys690Thr)
n.478+21928T>G
n.563+21928T>G
c.2087A>C (p.Lys696Thr)
 ClinVar dbSNP gnomAD v4
4g.47936632T=CA1455551653CNGA1,NIPAL1c.1850A= (p.Lys617=)
c.1862A= (p.Lys621=)
c.2069A= (p.Lys690=)
n.478+21928T=
n.563+21928T=
c.2087A= (p.Lys696=)
4g.47936633T>ACA356823455CNGA1,NIPAL1c.1849A>T (p.Lys617Ter)
c.1861A>T (p.Lys621Ter)
c.2068A>T (p.Lys690Ter)
n.478+21929T>A
n.563+21929T>A
c.2086A>T (p.Lys696Ter)
4g.47936633T>CCA356823457CNGA1,NIPAL1c.1849A>G (p.Lys617Glu)
c.1861A>G (p.Lys621Glu)
c.2068A>G (p.Lys690Glu)
n.478+21929T>C
n.563+21929T>C
c.2086A>G (p.Lys696Glu)
 gnomAD v4
4g.47936633T>GCA356823459CNGA1,NIPAL1c.1849A>C (p.Lys617Gln)
c.1861A>C (p.Lys621Gln)
c.2068A>C (p.Lys690Gln)
n.478+21929T>G
n.563+21929T>G
c.2086A>C (p.Lys696Gln)
4g.47936634A>CCA439403842CNGA1,NIPAL1c.1848T>G (p.Pro616=)
c.1860T>G (p.Pro620=)
c.2067T>G (p.Pro689=)
n.478+21930A>C
n.563+21930A>C
c.2085T>G (p.Pro695=)
4g.47936634A>GCA439403843CNGA1,NIPAL1c.1848T>C (p.Pro616=)
c.1860T>C (p.Pro620=)
c.2067T>C (p.Pro689=)
n.478+21930A>G
n.563+21930A>G
c.2085T>C (p.Pro695=)
4g.47936634A>TCA439403844CNGA1,NIPAL1c.1848T>A (p.Pro616=)
c.1860T>A (p.Pro620=)
c.2067T>A (p.Pro689=)
n.478+21930A>T
n.563+21930A>T
c.2085T>A (p.Pro695=)
4g.47936635G>ACA356823462CNGA1,NIPAL1c.1847C>T (p.Pro616Leu)
c.1859C>T (p.Pro620Leu)
c.2066C>T (p.Pro689Leu)
n.478+21931G>A
n.563+21931G>A
c.2084C>T (p.Pro695Leu)
4g.47936635G>CCA356823463CNGA1,NIPAL1c.1847C>G (p.Pro616Arg)
c.1859C>G (p.Pro620Arg)
c.2066C>G (p.Pro689Arg)
n.478+21931G>C
n.563+21931G>C
c.2084C>G (p.Pro695Arg)
4g.47936635G>TCA356823465CNGA1,NIPAL1c.1847C>A (p.Pro616His)
c.1859C>A (p.Pro620His)
c.2066C>A (p.Pro689His)
n.478+21931G>T
n.563+21931G>T
c.2084C>A (p.Pro695His)
4g.47936636G>ACA96688018CNGA1,NIPAL1c.1846C>T (p.Pro616Ser)
c.1858C>T (p.Pro620Ser)
c.2065C>T (p.Pro689Ser)
n.478+21932G>A
n.563+21932G>A
c.2083C>T (p.Pro695Ser)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
4g.47936636G>CCA356823468CNGA1,NIPAL1c.1846C>G (p.Pro616Ala)
c.1858C>G (p.Pro620Ala)
c.2065C>G (p.Pro689Ala)
n.478+21932G>C
n.563+21932G>C
c.2083C>G (p.Pro695Ala)
4g.47936636G=CA1455551654CNGA1,NIPAL1c.1846C= (p.Pro616=)
c.1858C= (p.Pro620=)
c.2065C= (p.Pro689=)
n.478+21932G=
n.563+21932G=
c.2083C= (p.Pro695=)
4g.47936636G>TCA356823470CNGA1,NIPAL1c.1846C>A (p.Pro616Thr)
c.1858C>A (p.Pro620Thr)
c.2065C>A (p.Pro689Thr)
n.478+21932G>T
n.563+21932G>T
c.2083C>A (p.Pro695Thr)
 COSMIC
4g.47936637A>CCA356823473CNGA1,NIPAL1c.1845T>G (p.Asp615Glu)
c.1857T>G (p.Asp619Glu)
c.2064T>G (p.Asp688Glu)
n.478+21933A>C
n.563+21933A>C
c.2082T>G (p.Asp694Glu)
4g.47936637A>GCA439403849CNGA1,NIPAL1c.1845T>C (p.Asp615=)
c.1857T>C (p.Asp619=)
c.2064T>C (p.Asp688=)
n.478+21933A>G
n.563+21933A>G
c.2082T>C (p.Asp694=)
4g.47936637A>TCA356823474CNGA1,NIPAL1c.1845T>A (p.Asp615Glu)
c.1857T>A (p.Asp619Glu)
c.2064T>A (p.Asp688Glu)
n.478+21933A>T
n.563+21933A>T
c.2082T>A (p.Asp694Glu)
4g.47936638T>ACA356823477CNGA1,NIPAL1c.1844A>T (p.Asp615Val)
c.1856A>T (p.Asp619Val)
c.2063A>T (p.Asp688Val)
n.478+21934T>A
n.563+21934T>A
c.2081A>T (p.Asp694Val)
 gnomAD v4
4g.47936638T>CCA356823479CNGA1,NIPAL1c.1844A>G (p.Asp615Gly)
c.1856A>G (p.Asp619Gly)
c.2063A>G (p.Asp688Gly)
n.478+21934T>C
n.563+21934T>C
c.2081A>G (p.Asp694Gly)
4g.47936638T>GCA356823482CNGA1,NIPAL1c.1844A>C (p.Asp615Ala)
c.1856A>C (p.Asp619Ala)
c.2063A>C (p.Asp688Ala)
n.478+21934T>G
n.563+21934T>G
c.2081A>C (p.Asp694Ala)
4g.47936639C>ACA356823484CNGA1,NIPAL1c.1843G>T (p.Asp615Tyr)
c.1855G>T (p.Asp619Tyr)
c.2062G>T (p.Asp688Tyr)
n.478+21935C>A
n.563+21935C>A
c.2080G>T (p.Asp694Tyr)
4g.47936639C>GCA356823486CNGA1,NIPAL1c.1843G>C (p.Asp615His)
c.1855G>C (p.Asp619His)
c.2062G>C (p.Asp688His)
n.478+21935C>G
n.563+21935C>G
c.2080G>C (p.Asp694His)
4g.47936639C>TCA356823488CNGA1,NIPAL1c.1843G>A (p.Asp615Asn)
c.1855G>A (p.Asp619Asn)
c.2062G>A (p.Asp688Asn)
n.478+21935C>T
n.563+21935C>T
c.2080G>A (p.Asp694Asn)
4g.47936640delCA2586973851CNGA1,NIPAL1c.1842del (p.Ser614ArgfsTer17)
c.1854del (p.Ser618ArgfsTer17)
c.2061del (p.Ser687ArgfsTer17)
n.478+21936del
n.563+21936del
c.2079del (p.Ser693ArgfsTer17)
4g.47936640A=CA1455551655CNGA1,NIPAL1c.1842T= (p.Ser614=)
c.1854T= (p.Ser618=)
c.2061T= (p.Ser687=)
n.478+21936A=
n.563+21936A=
c.2079T= (p.Ser693=)
4g.47936640A>CCA2911007CNGA1,NIPAL1c.1842T>G (p.Ser614Arg)
c.1854T>G (p.Ser618Arg)
c.2061T>G (p.Ser687Arg)
n.478+21936A>C
n.563+21936A>C
c.2079T>G (p.Ser693Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.47936640A>GCA439403850CNGA1,NIPAL1c.1842T>C (p.Ser614=)
c.1854T>C (p.Ser618=)
c.2061T>C (p.Ser687=)
n.478+21936A>G
n.563+21936A>G
c.2079T>C (p.Ser693=)
4g.47936640A>TCA2911008CNGA1,NIPAL1c.1842T>A (p.Ser614Arg)
c.1854T>A (p.Ser618Arg)
c.2061T>A (p.Ser687Arg)
n.478+21936A>T
n.563+21936A>T
c.2079T>A (p.Ser693Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.47936641C>ACA356823495CNGA1,NIPAL1c.1841G>T (p.Ser614Ile)
c.1853G>T (p.Ser618Ile)
c.2060G>T (p.Ser687Ile)
n.478+21937C>A
n.563+21937C>A
c.2078G>T (p.Ser693Ile)
4g.47936641C>GCA356823497CNGA1,NIPAL1c.1841G>C (p.Ser614Thr)
c.1853G>C (p.Ser618Thr)
c.2060G>C (p.Ser687Thr)
n.478+21937C>G
n.563+21937C>G
c.2078G>C (p.Ser693Thr)
4g.47936641C>TCA356823494CNGA1,NIPAL1c.1841G>A (p.Ser614Asn)
c.1853G>A (p.Ser618Asn)
c.2060G>A (p.Ser687Asn)
n.478+21937C>T
n.563+21937C>T
c.2078G>A (p.Ser693Asn)
 gnomAD v4
4g.47936642T>ACA356823500CNGA1,NIPAL1c.1840A>T (p.Ser614Cys)
c.1852A>T (p.Ser618Cys)
c.2059A>T (p.Ser687Cys)
n.478+21938T>A
n.563+21938T>A
c.2077A>T (p.Ser693Cys)
4g.47936642T>CCA356823501CNGA1,NIPAL1c.1840A>G (p.Ser614Gly)
c.1852A>G (p.Ser618Gly)
c.2059A>G (p.Ser687Gly)
n.478+21938T>C
n.563+21938T>C
c.2077A>G (p.Ser693Gly)
4g.47936642T>GCA356823503CNGA1,NIPAL1c.1840A>C (p.Ser614Arg)
c.1852A>C (p.Ser618Arg)
c.2059A>C (p.Ser687Arg)
n.478+21938T>G
n.563+21938T>G
c.2077A>C (p.Ser693Arg)
 dbSNP gnomAD v2 gnomAD v4
4g.47936642T=CA1455551656CNGA1,NIPAL1c.1840A= (p.Ser614=)
c.1852A= (p.Ser618=)
c.2059A= (p.Ser687=)
n.478+21938T=
n.563+21938T=
c.2077A= (p.Ser693=)
4g.47936643G>ACA439403856CNGA1,NIPAL1c.1839C>T (p.Gly613=)
c.1851C>T (p.Gly617=)
c.2058C>T (p.Gly686=)
n.478+21939G>A
n.563+21939G>A
c.2076C>T (p.Gly692=)
4g.47936643G>CCA439403855CNGA1,NIPAL1c.1839C>G (p.Gly613=)
c.1851C>G (p.Gly617=)
c.2058C>G (p.Gly686=)
n.478+21939G>C
n.563+21939G>C
c.2076C>G (p.Gly692=)
4g.47936643G>TCA439403857CNGA1,NIPAL1c.1839C>A (p.Gly613=)
c.1851C>A (p.Gly617=)
c.2058C>A (p.Gly686=)
n.478+21939G>T
n.563+21939G>T
c.2076C>A (p.Gly692=)
4g.47936644C>ACA356823506CNGA1,NIPAL1c.1838G>T (p.Gly613Val)
c.1850G>T (p.Gly617Val)
c.2057G>T (p.Gly686Val)
n.478+21940C>A
n.563+21940C>A
c.2075G>T (p.Gly692Val)
4g.47936644C>GCA356823508CNGA1,NIPAL1c.1838G>C (p.Gly613Ala)
c.1850G>C (p.Gly617Ala)
c.2057G>C (p.Gly686Ala)
n.478+21940C>G
n.563+21940C>G
c.2075G>C (p.Gly692Ala)
4g.47936644C>TCA356823510CNGA1,NIPAL1c.1838G>A (p.Gly613Asp)
c.1850G>A (p.Gly617Asp)
c.2057G>A (p.Gly686Asp)
n.478+21940C>T
n.563+21940C>T
c.2075G>A (p.Gly692Asp)
4g.47936645C>ACA356823513CNGA1,NIPAL1c.1837G>T (p.Gly613Cys)
c.1849G>T (p.Gly617Cys)
c.2056G>T (p.Gly686Cys)
n.478+21941C>A
n.563+21941C>A
c.2074G>T (p.Gly692Cys)
4g.47936645C>GCA356823515CNGA1,NIPAL1c.1837G>C (p.Gly613Arg)
c.1849G>C (p.Gly617Arg)
c.2056G>C (p.Gly686Arg)
n.478+21941C>G
n.563+21941C>G
c.2074G>C (p.Gly692Arg)
4g.47936645C>TCA356823516CNGA1,NIPAL1c.1837G>A (p.Gly613Ser)
c.1849G>A (p.Gly617Ser)
c.2056G>A (p.Gly686Ser)
n.478+21941C>T
n.563+21941C>T
c.2074G>A (p.Gly692Ser)
4g.47936646A>CCA439403858CNGA1,NIPAL1c.1836T>G (p.Ala612=)
c.1848T>G (p.Ala616=)
c.2055T>G (p.Ala685=)
n.478+21942A>C
n.563+21942A>C
c.2073T>G (p.Ala691=)
4g.47936646A>GCA439403859CNGA1,NIPAL1c.1836T>C (p.Ala612=)
c.1848T>C (p.Ala616=)
c.2055T>C (p.Ala685=)
n.478+21942A>G
n.563+21942A>G
c.2073T>C (p.Ala691=)
4g.47936646A>TCA439403860CNGA1,NIPAL1c.1836T>A (p.Ala612=)
c.1848T>A (p.Ala616=)
c.2055T>A (p.Ala685=)
n.478+21942A>T
n.563+21942A>T
c.2073T>A (p.Ala691=)
4g.47936647G>ACA356823520CNGA1,NIPAL1c.1835C>T (p.Ala612Val)
c.1847C>T (p.Ala616Val)
c.2054C>T (p.Ala685Val)
n.478+21943G>A
n.563+21943G>A
c.2072C>T (p.Ala691Val)
4g.47936647G>CCA356823521CNGA1,NIPAL1c.1835C>G (p.Ala612Gly)
c.1847C>G (p.Ala616Gly)
c.2054C>G (p.Ala685Gly)
n.478+21943G>C
n.563+21943G>C
c.2072C>G (p.Ala691Gly)
4g.47936647G>TCA356823523CNGA1,NIPAL1c.1835C>A (p.Ala612Asp)
c.1847C>A (p.Ala616Asp)
c.2054C>A (p.Ala685Asp)
n.478+21943G>T
n.563+21943G>T
c.2072C>A (p.Ala691Asp)
 gnomAD v4
4g.47936648C>ACA356823528CNGA1,NIPAL1c.1834G>T (p.Ala612Ser)
c.1846G>T (p.Ala616Ser)
c.2053G>T (p.Ala685Ser)
n.478+21944C>A
n.563+21944C>A
c.2071G>T (p.Ala691Ser)
4g.47936648C>GCA356823530CNGA1,NIPAL1c.1834G>C (p.Ala612Pro)
c.1846G>C (p.Ala616Pro)
c.2053G>C (p.Ala685Pro)
n.478+21944C>G
n.563+21944C>G
c.2071G>C (p.Ala691Pro)
4g.47936648C>TCA356823526CNGA1,NIPAL1c.1834G>A (p.Ala612Thr)
c.1846G>A (p.Ala616Thr)
c.2053G>A (p.Ala685Thr)
n.478+21944C>T
n.563+21944C>T
c.2071G>A (p.Ala691Thr)
4g.47936649A>CCA356823533CNGA1,NIPAL1c.1833T>G (p.Asn611Lys)
c.1845T>G (p.Asn615Lys)
c.2052T>G (p.Asn684Lys)
n.478+21945A>C
n.563+21945A>C
c.2070T>G (p.Asn690Lys)
4g.47936649A>GCA439403862CNGA1,NIPAL1c.1833T>C (p.Asn611=)
c.1845T>C (p.Asn615=)
c.2052T>C (p.Asn684=)
n.478+21945A>G
n.563+21945A>G
c.2070T>C (p.Asn690=)
4g.47936649A>TCA356823535CNGA1,NIPAL1c.1833T>A (p.Asn611Lys)
c.1845T>A (p.Asn615Lys)
c.2052T>A (p.Asn684Lys)
n.478+21945A>T
n.563+21945A>T
c.2070T>A (p.Asn690Lys)
 gnomAD v4
4g.47936650T>ACA356823536CNGA1,NIPAL1c.1832A>T (p.Asn611Ile)
c.1844A>T (p.Asn615Ile)
c.2051A>T (p.Asn684Ile)
n.478+21946T>A
n.563+21946T>A
c.2069A>T (p.Asn690Ile)
4g.47936650T>CCA356823539CNGA1,NIPAL1c.1832A>G (p.Asn611Ser)
c.1844A>G (p.Asn615Ser)
c.2051A>G (p.Asn684Ser)
n.478+21946T>C
n.563+21946T>C
c.2069A>G (p.Asn690Ser)
 dbSNP gnomAD v4
4g.47936650T>GCA356823540CNGA1,NIPAL1c.1832A>C (p.Asn611Thr)
c.1844A>C (p.Asn615Thr)
c.2051A>C (p.Asn684Thr)
n.478+21946T>G
n.563+21946T>G
c.2069A>C (p.Asn690Thr)
 gnomAD v4
4g.47936650T=CA1455551657CNGA1,NIPAL1c.1832A= (p.Asn611=)
c.1844A= (p.Asn615=)
c.2051A= (p.Asn684=)
n.478+21946T=
n.563+21946T=
c.2069A= (p.Asn690=)
4g.47936651T>ACA356823546CNGA1,NIPAL1c.1831A>T (p.Asn611Tyr)
c.1843A>T (p.Asn615Tyr)
c.2050A>T (p.Asn684Tyr)
n.478+21947T>A
n.563+21947T>A
c.2068A>T (p.Asn690Tyr)
4g.47936651T>CCA356823543CNGA1,NIPAL1c.1831A>G (p.Asn611Asp)
c.1843A>G (p.Asn615Asp)
c.2050A>G (p.Asn684Asp)
n.478+21947T>C
n.563+21947T>C
c.2068A>G (p.Asn690Asp)
4g.47936651T>GCA356823544CNGA1,NIPAL1c.1831A>C (p.Asn611His)
c.1843A>C (p.Asn615His)
c.2050A>C (p.Asn684His)
n.478+21947T>G
n.563+21947T>G
c.2068A>C (p.Asn690His)
4g.47936652T>ACA439403864CNGA1,NIPAL1c.1830A>T (p.Ala610=)
c.1842A>T (p.Ala614=)
c.2049A>T (p.Ala683=)
n.478+21948T>A
n.563+21948T>A
c.2067A>T (p.Ala689=)
4g.47936652T>CCA439403865CNGA1,NIPAL1c.1830A>G (p.Ala610=)
c.1842A>G (p.Ala614=)
c.2049A>G (p.Ala683=)
n.478+21948T>C
n.563+21948T>C
c.2067A>G (p.Ala689=)
4g.47936652T>GCA439403866CNGA1,NIPAL1c.1830A>C (p.Ala610=)
c.1842A>C (p.Ala614=)
c.2049A>C (p.Ala683=)
n.478+21948T>G
n.563+21948T>G
c.2067A>C (p.Ala689=)
4g.47936653G>ACA356823549CNGA1,NIPAL1c.1829C>T (p.Ala610Val)
c.1841C>T (p.Ala614Val)
c.2048C>T (p.Ala683Val)
n.478+21949G>A
n.563+21949G>A
c.2066C>T (p.Ala689Val)
 dbSNP
4g.47936653G>CCA356823551CNGA1,NIPAL1c.1829C>G (p.Ala610Gly)
c.1841C>G (p.Ala614Gly)
c.2048C>G (p.Ala683Gly)
n.478+21949G>C
n.563+21949G>C
c.2066C>G (p.Ala689Gly)
4g.47936653G=CA1455551658CNGA1,NIPAL1c.1829C= (p.Ala610=)
c.1841C= (p.Ala614=)
c.2048C= (p.Ala683=)
n.478+21949G=
n.563+21949G=
c.2066C= (p.Ala689=)
4g.47936653G>TCA356823553CNGA1,NIPAL1c.1829C>A (p.Ala610Glu)
c.1841C>A (p.Ala614Glu)
c.2048C>A (p.Ala683Glu)
n.478+21949G>T
n.563+21949G>T
c.2066C>A (p.Ala689Glu)
4g.47936654C>ACA356823556CNGA1,NIPAL1c.1828G>T (p.Ala610Ser)
c.1840G>T (p.Ala614Ser)
c.2047G>T (p.Ala683Ser)
n.478+21950C>A
n.563+21950C>A
c.2065G>T (p.Ala689Ser)
4g.47936654C>GCA356823558CNGA1,NIPAL1c.1828G>C (p.Ala610Pro)
c.1840G>C (p.Ala614Pro)
c.2047G>C (p.Ala683Pro)
n.478+21950C>G
n.563+21950C>G
c.2065G>C (p.Ala689Pro)
4g.47936654C>TCA356823560CNGA1,NIPAL1c.1828G>A (p.Ala610Thr)
c.1840G>A (p.Ala614Thr)
c.2047G>A (p.Ala683Thr)
n.478+21950C>T
n.563+21950C>T
c.2065G>A (p.Ala689Thr)
 gnomAD v4
4g.47936655A=CA1455551659CNGA1,NIPAL1c.1827T= (p.Ile609=)
c.1839T= (p.Ile613=)
c.2046T= (p.Ile682=)
n.478+21951A=
n.563+21951A=
c.2064T= (p.Ile688=)
4g.47936655A>CCA356823562CNGA1,NIPAL1c.1827T>G (p.Ile609Met)
c.1839T>G (p.Ile613Met)
c.2046T>G (p.Ile682Met)
n.478+21951A>C
n.563+21951A>C
c.2064T>G (p.Ile688Met)
 ClinVar dbSNP gnomAD v2 gnomAD v4
4g.47936655A>GCA439403869CNGA1,NIPAL1c.1827T>C (p.Ile609=)
c.1839T>C (p.Ile613=)
c.2046T>C (p.Ile682=)
n.478+21951A>G
n.563+21951A>G
c.2064T>C (p.Ile688=)
4g.47936655A>TCA439403870CNGA1,NIPAL1c.1827T>A (p.Ile609=)
c.1839T>A (p.Ile613=)
c.2046T>A (p.Ile682=)
n.478+21951A>T
n.563+21951A>T
c.2064T>A (p.Ile688=)
4g.47936656A>CCA356823567CNGA1,NIPAL1c.1826T>G (p.Ile609Ser)
c.1838T>G (p.Ile613Ser)
c.2045T>G (p.Ile682Ser)
n.478+21952A>C
n.563+21952A>C
c.2063T>G (p.Ile688Ser)
4g.47936656A>GCA356823565CNGA1,NIPAL1c.1826T>C (p.Ile609Thr)
c.1838T>C (p.Ile613Thr)
c.2045T>C (p.Ile682Thr)
n.478+21952A>G
n.563+21952A>G
c.2063T>C (p.Ile688Thr)
4g.47936656A>TCA356823569CNGA1,NIPAL1c.1826T>A (p.Ile609Asn)
c.1838T>A (p.Ile613Asn)
c.2045T>A (p.Ile682Asn)
n.478+21952A>T
n.563+21952A>T
c.2063T>A (p.Ile688Asn)
4g.47936657T>ACA356823572CNGA1,NIPAL1c.1825A>T (p.Ile609Phe)
c.1837A>T (p.Ile613Phe)
c.2044A>T (p.Ile682Phe)
n.478+21953T>A
n.563+21953T>A
c.2062A>T (p.Ile688Phe)
4g.47936657T>CCA356823573CNGA1,NIPAL1c.1825A>G (p.Ile609Val)
c.1837A>G (p.Ile613Val)
c.2044A>G (p.Ile682Val)
n.478+21953T>C
n.563+21953T>C
c.2062A>G (p.Ile688Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.47936657T>GCA356823576CNGA1,NIPAL1c.1825A>C (p.Ile609Leu)
c.1837A>C (p.Ile613Leu)
c.2044A>C (p.Ile682Leu)
n.478+21953T>G
n.563+21953T>G
c.2062A>C (p.Ile688Leu)
4g.47936657T=CA1455551660CNGA1,NIPAL1c.1825A= (p.Ile609=)
c.1837A= (p.Ile613=)
c.2044A= (p.Ile682=)
n.478+21953T=
n.563+21953T=
c.2062A= (p.Ile688=)
4g.47936658G>ACA439403873CNGA1,NIPAL1c.1824C>T (p.Asn608=)
c.1836C>T (p.Asn612=)
c.2043C>T (p.Asn681=)
n.478+21954G>A
n.563+21954G>A
c.2061C>T (p.Asn687=)
 ClinVar dbSNP gnomAD v4
4g.47936658G>CCA356823578CNGA1,NIPAL1c.1824C>G (p.Asn608Lys)
c.1836C>G (p.Asn612Lys)
c.2043C>G (p.Asn681Lys)
n.478+21954G>C
n.563+21954G>C
c.2061C>G (p.Asn687Lys)
4g.47936658G=CA1455551661CNGA1,NIPAL1c.1824C= (p.Asn608=)
c.1836C= (p.Asn612=)
c.2043C= (p.Asn681=)
n.478+21954G=
n.563+21954G=
c.2061C= (p.Asn687=)
4g.47936658G>TCA356823580CNGA1,NIPAL1c.1824C>A (p.Asn608Lys)
c.1836C>A (p.Asn612Lys)
c.2043C>A (p.Asn681Lys)
n.478+21954G>T
n.563+21954G>T
c.2061C>A (p.Asn687Lys)
 ClinVar dbSNP gnomAD v3 gnomAD v4
4g.47936659T>ACA356823583CNGA1,NIPAL1c.1823A>T (p.Asn608Ile)
c.1835A>T (p.Asn612Ile)
c.2042A>T (p.Asn681Ile)
n.478+21955T>A
n.563+21955T>A
c.2060A>T (p.Asn687Ile)
4g.47936659T>CCA356823585CNGA1,NIPAL1c.1823A>G (p.Asn608Ser)
c.1835A>G (p.Asn612Ser)
c.2042A>G (p.Asn681Ser)
n.478+21955T>C
n.563+21955T>C
c.2060A>G (p.Asn687Ser)
4g.47936659T>GCA356823587CNGA1,NIPAL1c.1823A>C (p.Asn608Thr)
c.1835A>C (p.Asn612Thr)
c.2042A>C (p.Asn681Thr)
n.478+21955T>G
n.563+21955T>G
c.2060A>C (p.Asn687Thr)
4g.47936660T>ACA356823589CNGA1,NIPAL1c.1822A>T (p.Asn608Tyr)
c.1834A>T (p.Asn612Tyr)
c.2041A>T (p.Asn681Tyr)
n.478+21956T>A
n.563+21956T>A
c.2059A>T (p.Asn687Tyr)
4g.47936660T>CCA356823591CNGA1,NIPAL1c.1822A>G (p.Asn608Asp)
c.1834A>G (p.Asn612Asp)
c.2041A>G (p.Asn681Asp)
n.478+21956T>C
n.563+21956T>C
c.2059A>G (p.Asn687Asp)
4g.47936660T>GCA356823593CNGA1,NIPAL1c.1822A>C (p.Asn608His)
c.1834A>C (p.Asn612His)
c.2041A>C (p.Asn681His)
n.478+21956T>G
n.563+21956T>G
c.2059A>C (p.Asn687His)
4g.47936661T>ACA439403875CNGA1,NIPAL1c.1821A>T (p.Leu607=)
c.1833A>T (p.Leu611=)
c.2040A>T (p.Leu680=)
n.478+21957T>A
n.563+21957T>A
c.2058A>T (p.Leu686=)
 dbSNP
4g.47936661T>CCA439403876CNGA1,NIPAL1c.1821A>G (p.Leu607=)
c.1833A>G (p.Leu611=)
c.2040A>G (p.Leu680=)
n.478+21957T>C
n.563+21957T>C
c.2058A>G (p.Leu686=)
4g.47936661T>GCA439403877CNGA1,NIPAL1c.1821A>C (p.Leu607=)
c.1833A>C (p.Leu611=)
c.2040A>C (p.Leu680=)
n.478+21957T>G
n.563+21957T>G
c.2058A>C (p.Leu686=)
4g.47936661T=CA1455551662CNGA1,NIPAL1c.1821A= (p.Leu607=)
c.1833A= (p.Leu611=)
c.2040A= (p.Leu680=)
n.478+21957T=
n.563+21957T=
c.2058A= (p.Leu686=)
4g.47936662A>CCA356823596CNGA1,NIPAL1c.1820T>G (p.Leu607Arg)
c.1832T>G (p.Leu611Arg)
c.2039T>G (p.Leu680Arg)
n.478+21958A>C
n.563+21958A>C
c.2057T>G (p.Leu686Arg)
4g.47936662A>GCA356823597CNGA1,NIPAL1c.1820T>C (p.Leu607Pro)
c.1832T>C (p.Leu611Pro)
c.2039T>C (p.Leu680Pro)
n.478+21958A>G
n.563+21958A>G
c.2057T>C (p.Leu686Pro)
4g.47936662A>TCA356823599CNGA1,NIPAL1c.1820T>A (p.Leu607Gln)
c.1832T>A (p.Leu611Gln)
c.2039T>A (p.Leu680Gln)
n.478+21958A>T
n.563+21958A>T
c.2057T>A (p.Leu686Gln)
4g.47936663G>ACA439403878CNGA1,NIPAL1c.1819C>T (p.Leu607=)
c.1831C>T (p.Leu611=)
c.2038C>T (p.Leu680=)
n.478+21959G>A
n.563+21959G>A
c.2056C>T (p.Leu686=)
4g.47936663G>CCA96688038CNGA1,NIPAL1c.1819C>G (p.Leu607Val)
c.1831C>G (p.Leu611Val)
c.2038C>G (p.Leu680Val)
n.478+21959G>C
n.563+21959G>C
c.2056C>G (p.Leu686Val)
 dbSNP gnomAD v4
4g.47936663G=CA1455551663CNGA1,NIPAL1c.1819C= (p.Leu607=)
c.1831C= (p.Leu611=)
c.2038C= (p.Leu680=)
n.478+21959G=
n.563+21959G=
c.2056C= (p.Leu686=)
4g.47936663G>TCA356823603CNGA1,NIPAL1c.1819C>A (p.Leu607Ile)
c.1831C>A (p.Leu611Ile)
c.2038C>A (p.Leu680Ile)
n.478+21959G>T
n.563+21959G>T
c.2056C>A (p.Leu686Ile)
4g.47936664A=CA1455551664CNGA1,NIPAL1c.1818T= (p.Asp606=)
c.1830T= (p.Asp610=)
c.2037T= (p.Asp679=)
n.478+21960A=
n.563+21960A=
c.2055T= (p.Asp685=)
4g.47936664A>CCA356823606CNGA1,NIPAL1c.1818T>G (p.Asp606Glu)
c.1830T>G (p.Asp610Glu)
c.2037T>G (p.Asp679Glu)
n.478+21960A>C
n.563+21960A>C
c.2055T>G (p.Asp685Glu)
4g.47936664A>GCA2911009CNGA1,NIPAL1c.1818T>C (p.Asp606=)
c.1830T>C (p.Asp610=)
c.2037T>C (p.Asp679=)
n.478+21960A>G
n.563+21960A>G
c.2055T>C (p.Asp685=)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.47936664A>TCA356823609CNGA1,NIPAL1c.1818T>A (p.Asp606Glu)
c.1830T>A (p.Asp610Glu)
c.2037T>A (p.Asp679Glu)
n.478+21960A>T
n.563+21960A>T
c.2055T>A (p.Asp685Glu)
4g.47936665T>ACA356823612CNGA1,NIPAL1c.1817A>T (p.Asp606Val)
c.1829A>T (p.Asp610Val)
c.2036A>T (p.Asp679Val)
n.478+21961T>A
n.563+21961T>A
c.2054A>T (p.Asp685Val)
4g.47936665T>CCA356823614CNGA1,NIPAL1c.1817A>G (p.Asp606Gly)
c.1829A>G (p.Asp610Gly)
c.2036A>G (p.Asp679Gly)
n.478+21961T>C
n.563+21961T>C
c.2054A>G (p.Asp685Gly)
4g.47936665T>GCA356823615CNGA1,NIPAL1c.1817A>C (p.Asp606Ala)
c.1829A>C (p.Asp610Ala)
c.2036A>C (p.Asp679Ala)
n.478+21961T>G
n.563+21961T>G
c.2054A>C (p.Asp685Ala)
4g.47936666C>ACA356823616CNGA1,NIPAL1c.1816G>T (p.Asp606Tyr)
c.1828G>T (p.Asp610Tyr)
c.2035G>T (p.Asp679Tyr)
n.478+21962C>A
n.563+21962C>A
c.2053G>T (p.Asp685Tyr)
 gnomAD v4
4g.47936666C>GCA356823618CNGA1,NIPAL1c.1816G>C (p.Asp606His)
c.1828G>C (p.Asp610His)
c.2035G>C (p.Asp679His)
n.478+21962C>G
n.563+21962C>G
c.2053G>C (p.Asp685His)
4g.47936666C>TCA356823620CNGA1,NIPAL1c.1816G>A (p.Asp606Asn)
c.1828G>A (p.Asp610Asn)
c.2035G>A (p.Asp679Asn)
n.478+21962C>T
n.563+21962C>T
c.2053G>A (p.Asp685Asn)
4g.47936667C>ACA439403886CNGA1,NIPAL1c.1815G>T (p.Leu605=)
c.1827G>T (p.Leu609=)
c.2034G>T (p.Leu678=)
n.478+21963C>A
n.563+21963C>A
c.2052G>T (p.Leu684=)
4g.47936667C>GCA439403887CNGA1,NIPAL1c.1815G>C (p.Leu605=)
c.1827G>C (p.Leu609=)
c.2034G>C (p.Leu678=)
n.478+21963C>G
n.563+21963C>G
c.2052G>C (p.Leu684=)
4g.47936667C>TCA439403889CNGA1,NIPAL1c.1815G>A (p.Leu605=)
c.1827G>A (p.Leu609=)
c.2034G>A (p.Leu678=)
n.478+21963C>T
n.563+21963C>T
c.2052G>A (p.Leu684=)
4g.47936668A>CCA356823622CNGA1,NIPAL1c.1814T>G (p.Leu605Arg)
c.1826T>G (p.Leu609Arg)
c.2033T>G (p.Leu678Arg)
n.478+21964A>C
n.563+21964A>C
c.2051T>G (p.Leu684Arg)
4g.47936668A>GCA356823624CNGA1,NIPAL1c.1814T>C (p.Leu605Pro)
c.1826T>C (p.Leu609Pro)
c.2033T>C (p.Leu678Pro)
n.478+21964A>G
n.563+21964A>G
c.2051T>C (p.Leu684Pro)
4g.47936668A>TCA356823626CNGA1,NIPAL1c.1814T>A (p.Leu605Gln)
c.1826T>A (p.Leu609Gln)
c.2033T>A (p.Leu678Gln)
n.478+21964A>T
n.563+21964A>T
c.2051T>A (p.Leu684Gln)
4g.47936669G>ACA439403891CNGA1,NIPAL1c.1813C>T (p.Leu605=)
c.1825C>T (p.Leu609=)
c.2032C>T (p.Leu678=)
n.478+21965G>A
n.563+21965G>A
c.2050C>T (p.Leu684=)
 COSMIC COSMIC
4g.47936669G>CCA356823628CNGA1,NIPAL1c.1813C>G (p.Leu605Val)
c.1825C>G (p.Leu609Val)
c.2032C>G (p.Leu678Val)
n.478+21965G>C
n.563+21965G>C
c.2050C>G (p.Leu684Val)
4g.47936669G>TCA356823630CNGA1,NIPAL1c.1813C>A (p.Leu605Met)
c.1825C>A (p.Leu609Met)
c.2032C>A (p.Leu678Met)
n.478+21965G>T
n.563+21965G>T
c.2050C>A (p.Leu684Met)
4g.47936670T>ACA439403893CNGA1,NIPAL1c.1812A>T (p.Leu604=)
c.1824A>T (p.Leu608=)
c.2031A>T (p.Leu677=)
n.478+21966T>A
n.563+21966T>A
c.2049A>T (p.Leu683=)
4g.47936670T>CCA439403894CNGA1,NIPAL1c.1812A>G (p.Leu604=)
c.1824A>G (p.Leu608=)
c.2031A>G (p.Leu677=)
n.478+21966T>C
n.563+21966T>C
c.2049A>G (p.Leu683=)
4g.47936670T>GCA439403895CNGA1,NIPAL1c.1812A>C (p.Leu604=)
c.1824A>C (p.Leu608=)
c.2031A>C (p.Leu677=)
n.478+21966T>G
n.563+21966T>G
c.2049A>C (p.Leu683=)
4g.47936671A>CCA356823633CNGA1,NIPAL1c.1811T>G (p.Leu604Arg)
c.1823T>G (p.Leu608Arg)
c.2030T>G (p.Leu677Arg)
n.478+21967A>C
n.563+21967A>C
c.2048T>G (p.Leu683Arg)
4g.47936671A>GCA356823635CNGA1,NIPAL1c.1811T>C (p.Leu604Pro)
c.1823T>C (p.Leu608Pro)
c.2030T>C (p.Leu677Pro)
n.478+21967A>G
n.563+21967A>G
c.2048T>C (p.Leu683Pro)
4g.47936671A>TCA356823637CNGA1,NIPAL1c.1811T>A (p.Leu604Gln)
c.1823T>A (p.Leu608Gln)
c.2030T>A (p.Leu677Gln)
n.478+21967A>T
n.563+21967A>T
c.2048T>A (p.Leu683Gln)
4g.47936672G>ACA439403897CNGA1,NIPAL1c.1810C>T (p.Leu604=)
c.1822C>T (p.Leu608=)
c.2029C>T (p.Leu677=)
n.478+21968G>A
n.563+21968G>A
c.2047C>T (p.Leu683=)
 dbSNP gnomAD v3 gnomAD v4
4g.47936672G>CCA356823639CNGA1,NIPAL1c.1810C>G (p.Leu604Val)
c.1822C>G (p.Leu608Val)
c.2029C>G (p.Leu677Val)
n.478+21968G>C
n.563+21968G>C
c.2047C>G (p.Leu683Val)
4g.47936672G=CA1455551665CNGA1,NIPAL1c.1810C= (p.Leu604=)
c.1822C= (p.Leu608=)
c.2029C= (p.Leu677=)
n.478+21968G=
n.563+21968G=
c.2047C= (p.Leu683=)
4g.47936672G>TCA356823641CNGA1,NIPAL1c.1810C>A (p.Leu604Ile)
c.1822C>A (p.Leu608Ile)
c.2029C>A (p.Leu677Ile)
n.478+21968G>T
n.563+21968G>T
c.2047C>A (p.Leu683Ile)
4g.47936673A>CCA439403898CNGA1,NIPAL1c.1809T>G (p.Gly603=)
c.1821T>G (p.Gly607=)
c.2028T>G (p.Gly676=)
n.478+21969A>C
n.563+21969A>C
c.2046T>G (p.Gly682=)
4g.47936673A>GCA439403899CNGA1,NIPAL1c.1809T>C (p.Gly603=)
c.1821T>C (p.Gly607=)
c.2028T>C (p.Gly676=)
n.478+21969A>G
n.563+21969A>G
c.2046T>C (p.Gly682=)
4g.47936673A>TCA439403900CNGA1,NIPAL1c.1809T>A (p.Gly603=)
c.1821T>A (p.Gly607=)
c.2028T>A (p.Gly676=)
n.478+21969A>T
n.563+21969A>T
c.2046T>A (p.Gly682=)

Number of alleles fetched