| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.47936734T>A | CA356823985 | CNGA1,NIPAL1 | c.1748A>T (p.Glu583Val) c.1760A>T (p.Glu587Val) c.1967A>T (p.Glu656Val) n.478+22030T>A n.563+22030T>A c.1985A>T (p.Glu662Val) | |
| 4 | g.47936734T>C | CA356823981 | CNGA1,NIPAL1 | c.1748A>G (p.Glu583Gly) c.1760A>G (p.Glu587Gly) c.1967A>G (p.Glu656Gly) n.478+22030T>C n.563+22030T>C c.1985A>G (p.Glu662Gly) | |
| 4 | g.47936734T>G | CA356823982 | CNGA1,NIPAL1 | c.1748A>C (p.Glu583Ala) c.1760A>C (p.Glu587Ala) c.1967A>C (p.Glu656Ala) n.478+22030T>G n.563+22030T>G c.1985A>C (p.Glu662Ala) | |
| 4 | g.47936735C>A | CA356823990 | CNGA1,NIPAL1 | c.1747G>T (p.Glu583Ter) c.1759G>T (p.Glu587Ter) c.1966G>T (p.Glu656Ter) n.478+22031C>A n.563+22031C>A c.1984G>T (p.Glu662Ter) | |
| 4 | g.47936735C>G | CA356823992 | CNGA1,NIPAL1 | c.1747G>C (p.Glu583Gln) c.1759G>C (p.Glu587Gln) c.1966G>C (p.Glu656Gln) n.478+22031C>G n.563+22031C>G c.1984G>C (p.Glu662Gln) | |
| 4 | g.47936735C>T | CA356823994 | CNGA1,NIPAL1 | c.1747G>A (p.Glu583Lys) c.1759G>A (p.Glu587Lys) c.1966G>A (p.Glu656Lys) n.478+22031C>T n.563+22031C>T c.1984G>A (p.Glu662Lys) | |
| 4 | g.47936735_47936739delinsCAGTT | CA1455551691 | CNGA1,NIPAL1 | c.1743_1747delinsAACTG (p.Leu581=) c.1755_1759delinsAACTG (p.Leu585=) c.1962_1966delinsAACTG (p.Leu654=) n.478+22031_478+22035delinsCAGTT n.563+22031_563+22035delinsCAGTT c.1980_1984delinsAACTG (p.Leu660=) | |
| 4 | g.47936736A= | CA1455551692 | CNGA1,NIPAL1 | c.1746T= (p.Thr582=) c.1758T= (p.Thr586=) c.1965T= (p.Thr655=) n.478+22032A= n.563+22032A= c.1983T= (p.Thr661=) | |
| 4 | g.47936736A>C | CA439403957 | CNGA1,NIPAL1 | c.1746T>G (p.Thr582=) c.1758T>G (p.Thr586=) c.1965T>G (p.Thr655=) n.478+22032A>C n.563+22032A>C c.1983T>G (p.Thr661=) | ClinVar |
| 4 | g.47936736A>G | CA439403959 | CNGA1,NIPAL1 | c.1746T>C (p.Thr582=) c.1758T>C (p.Thr586=) c.1965T>C (p.Thr655=) n.478+22032A>G n.563+22032A>G c.1983T>C (p.Thr661=) | dbSNP gnomAD v4 |
| 4 | g.47936736A>T | CA439403961 | CNGA1,NIPAL1 | c.1746T>A (p.Thr582=) c.1758T>A (p.Thr586=) c.1965T>A (p.Thr655=) n.478+22032A>T n.563+22032A>T c.1983T>A (p.Thr661=) | |
| 4 | g.47936738_47936741del | CA2911023 | CNGA1,NIPAL1 | c.1743_1746del (p.Thr582SerfsTer17) c.1755_1758del (p.Thr586SerfsTer17) c.1962_1965del (p.Thr655SerfsTer17) n.478+22034_478+22037del n.563+22034_563+22037del c.1980_1983del (p.Thr661SerfsTer17) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.47936737G>A | CA356824000 | CNGA1,NIPAL1 | c.1745C>T (p.Thr582Ile) c.1757C>T (p.Thr586Ile) c.1964C>T (p.Thr655Ile) n.478+22033G>A n.563+22033G>A c.1982C>T (p.Thr661Ile) | gnomAD v4 |
| 4 | g.47936737G>C | CA356824002 | CNGA1,NIPAL1 | c.1745C>G (p.Thr582Ser) c.1757C>G (p.Thr586Ser) c.1964C>G (p.Thr655Ser) n.478+22033G>C n.563+22033G>C c.1982C>G (p.Thr661Ser) | |
| 4 | g.47936737G>T | CA356824005 | CNGA1,NIPAL1 | c.1745C>A (p.Thr582Asn) c.1757C>A (p.Thr586Asn) c.1964C>A (p.Thr655Asn) n.478+22033G>T n.563+22033G>T c.1982C>A (p.Thr661Asn) | |
| 4 | g.47936738T>A | CA356824010 | CNGA1,NIPAL1 | c.1744A>T (p.Thr582Ser) c.1756A>T (p.Thr586Ser) c.1963A>T (p.Thr655Ser) n.478+22034T>A n.563+22034T>A c.1981A>T (p.Thr661Ser) | dbSNP |
| 4 | g.47936738T>C | CA356824012 | CNGA1,NIPAL1 | c.1744A>G (p.Thr582Ala) c.1756A>G (p.Thr586Ala) c.1963A>G (p.Thr655Ala) n.478+22034T>C n.563+22034T>C c.1981A>G (p.Thr661Ala) | |
| 4 | g.47936738T>G | CA356824015 | CNGA1,NIPAL1 | c.1744A>C (p.Thr582Pro) c.1756A>C (p.Thr586Pro) c.1963A>C (p.Thr655Pro) n.478+22034T>G n.563+22034T>G c.1981A>C (p.Thr661Pro) | |
| 4 | g.47936739T>A | CA439403963 | CNGA1,NIPAL1 | c.1743A>T (p.Leu581=) c.1755A>T (p.Leu585=) c.1962A>T (p.Leu654=) n.478+22035T>A n.563+22035T>A c.1980A>T (p.Leu660=) | |
| 4 | g.47936739T>C | CA439403964 | CNGA1,NIPAL1 | c.1743A>G (p.Leu581=) c.1755A>G (p.Leu585=) c.1962A>G (p.Leu654=) n.478+22035T>C n.563+22035T>C c.1980A>G (p.Leu660=) | gnomAD v4 |
| 4 | g.47936739T>G | CA439403965 | CNGA1,NIPAL1 | c.1743A>C (p.Leu581=) c.1755A>C (p.Leu585=) c.1962A>C (p.Leu654=) n.478+22035T>G n.563+22035T>G c.1980A>C (p.Leu660=) | |
| 4 | g.47936740A>C | CA356824024 | CNGA1,NIPAL1 | c.1742T>G (p.Leu581Arg) c.1754T>G (p.Leu585Arg) c.1961T>G (p.Leu654Arg) n.478+22036A>C n.563+22036A>C c.1979T>G (p.Leu660Arg) | |
| 4 | g.47936740A>G | CA356824021 | CNGA1,NIPAL1 | c.1742T>C (p.Leu581Pro) c.1754T>C (p.Leu585Pro) c.1961T>C (p.Leu654Pro) n.478+22036A>G n.563+22036A>G c.1979T>C (p.Leu660Pro) | gnomAD v4 |
| 4 | g.47936740A>T | CA356824019 | CNGA1,NIPAL1 | c.1742T>A (p.Leu581Gln) c.1754T>A (p.Leu585Gln) c.1961T>A (p.Leu654Gln) n.478+22036A>T n.563+22036A>T c.1979T>A (p.Leu660Gln) | |
| 4 | g.47936741G>A | CA439403966 | CNGA1,NIPAL1 | c.1741C>T (p.Leu581=) c.1753C>T (p.Leu585=) c.1960C>T (p.Leu654=) n.478+22037G>A n.563+22037G>A c.1978C>T (p.Leu660=) | |
| 4 | g.47936741G>C | CA356824028 | CNGA1,NIPAL1 | c.1741C>G (p.Leu581Val) c.1753C>G (p.Leu585Val) c.1960C>G (p.Leu654Val) n.478+22037G>C n.563+22037G>C c.1978C>G (p.Leu660Val) | |
| 4 | g.47936741G>T | CA356824032 | CNGA1,NIPAL1 | c.1741C>A (p.Leu581Ile) c.1753C>A (p.Leu585Ile) c.1960C>A (p.Leu654Ile) n.478+22037G>T n.563+22037G>T c.1978C>A (p.Leu660Ile) | |
| 4 | g.47936742A>C | CA439403969 | CNGA1,NIPAL1 | c.1740T>G (p.Ala580=) c.1752T>G (p.Ala584=) c.1959T>G (p.Ala653=) n.478+22038A>C n.563+22038A>C c.1977T>G (p.Ala659=) | gnomAD v4 |
| 4 | g.47936742A>G | CA439403971 | CNGA1,NIPAL1 | c.1740T>C (p.Ala580=) c.1752T>C (p.Ala584=) c.1959T>C (p.Ala653=) n.478+22038A>G n.563+22038A>G c.1977T>C (p.Ala659=) | |
| 4 | g.47936742A>T | CA439403972 | CNGA1,NIPAL1 | c.1740T>A (p.Ala580=) c.1752T>A (p.Ala584=) c.1959T>A (p.Ala653=) n.478+22038A>T n.563+22038A>T c.1977T>A (p.Ala659=) | |
| 4 | g.47936743G>A | CA356824036 | CNGA1,NIPAL1 | c.1739C>T (p.Ala580Val) c.1751C>T (p.Ala584Val) c.1958C>T (p.Ala653Val) n.478+22039G>A n.563+22039G>A c.1976C>T (p.Ala659Val) | gnomAD v4 |
| 4 | g.47936743G>C | CA356824039 | CNGA1,NIPAL1 | c.1739C>G (p.Ala580Gly) c.1751C>G (p.Ala584Gly) c.1958C>G (p.Ala653Gly) n.478+22039G>C n.563+22039G>C c.1976C>G (p.Ala659Gly) | gnomAD v4 |
| 4 | g.47936743G>T | CA356824041 | CNGA1,NIPAL1 | c.1739C>A (p.Ala580Asp) c.1751C>A (p.Ala584Asp) c.1958C>A (p.Ala653Asp) n.478+22039G>T n.563+22039G>T c.1976C>A (p.Ala659Asp) | |
| 4 | g.47936744C>A | CA356824046 | CNGA1,NIPAL1 | c.1738G>T (p.Ala580Ser) c.1750G>T (p.Ala584Ser) c.1957G>T (p.Ala653Ser) n.478+22040C>A n.563+22040C>A c.1975G>T (p.Ala659Ser) | |
| 4 | g.47936744C>G | CA356824049 | CNGA1,NIPAL1 | c.1738G>C (p.Ala580Pro) c.1750G>C (p.Ala584Pro) c.1957G>C (p.Ala653Pro) n.478+22040C>G n.563+22040C>G c.1975G>C (p.Ala659Pro) | |
| 4 | g.47936744C>T | CA356824051 | CNGA1,NIPAL1 | c.1738G>A (p.Ala580Thr) c.1750G>A (p.Ala584Thr) c.1957G>A (p.Ala653Thr) n.478+22040C>T n.563+22040C>T c.1975G>A (p.Ala659Thr) | |
| 4 | g.47936745T>A | CA356824056 | CNGA1,NIPAL1 | c.1737A>T (p.Glu579Asp) c.1749A>T (p.Glu583Asp) c.1956A>T (p.Glu652Asp) n.478+22041T>A n.563+22041T>A c.1974A>T (p.Glu658Asp) | |
| 4 | g.47936745T>C | CA439403973 | CNGA1,NIPAL1 | c.1737A>G (p.Glu579=) c.1749A>G (p.Glu583=) c.1956A>G (p.Glu652=) n.478+22041T>C n.563+22041T>C c.1974A>G (p.Glu658=) | |
| 4 | g.47936745T>G | CA356824058 | CNGA1,NIPAL1 | c.1737A>C (p.Glu579Asp) c.1749A>C (p.Glu583Asp) c.1956A>C (p.Glu652Asp) n.478+22041T>G n.563+22041T>G c.1974A>C (p.Glu658Asp) | |
| 4 | g.47936746T>A | CA356824063 | CNGA1,NIPAL1 | c.1736A>T (p.Glu579Val) c.1748A>T (p.Glu583Val) c.1955A>T (p.Glu652Val) n.478+22042T>A n.563+22042T>A c.1973A>T (p.Glu658Val) | |
| 4 | g.47936746T>C | CA356824065 | CNGA1,NIPAL1 | c.1736A>G (p.Glu579Gly) c.1748A>G (p.Glu583Gly) c.1955A>G (p.Glu652Gly) n.478+22042T>C n.563+22042T>C c.1973A>G (p.Glu658Gly) | |
| 4 | g.47936746T>G | CA356824067 | CNGA1,NIPAL1 | c.1736A>C (p.Glu579Ala) c.1748A>C (p.Glu583Ala) c.1955A>C (p.Glu652Ala) n.478+22042T>G n.563+22042T>G c.1973A>C (p.Glu658Ala) | |
| 4 | g.47936747C>A | CA356824074 | CNGA1,NIPAL1 | c.1735G>T (p.Glu579Ter) c.1747G>T (p.Glu583Ter) c.1954G>T (p.Glu652Ter) n.478+22043C>A n.563+22043C>A c.1972G>T (p.Glu658Ter) | |
| 4 | g.47936747C>G | CA356824078 | CNGA1,NIPAL1 | c.1735G>C (p.Glu579Gln) c.1747G>C (p.Glu583Gln) c.1954G>C (p.Glu652Gln) n.478+22043C>G n.563+22043C>G c.1972G>C (p.Glu658Gln) | |
| 4 | g.47936747C>T | CA356824072 | CNGA1,NIPAL1 | c.1735G>A (p.Glu579Lys) c.1747G>A (p.Glu583Lys) c.1954G>A (p.Glu652Lys) n.478+22043C>T n.563+22043C>T c.1972G>A (p.Glu658Lys) | |
| 4 | g.47936748C>A | CA356824082 | CNGA1,NIPAL1 | c.1734G>T (p.Met578Ile) c.1746G>T (p.Met582Ile) c.1953G>T (p.Met651Ile) n.478+22044C>A n.563+22044C>A c.1971G>T (p.Met657Ile) | |
| 4 | g.47936748C= | CA1455551693 | CNGA1,NIPAL1 | c.1734G= (p.Met578=) c.1746G= (p.Met582=) c.1953G= (p.Met651=) n.478+22044C= n.563+22044C= c.1971G= (p.Met657=) | |
| 4 | g.47936748C>G | CA356824084 | CNGA1,NIPAL1 | c.1734G>C (p.Met578Ile) c.1746G>C (p.Met582Ile) c.1953G>C (p.Met651Ile) n.478+22044C>G n.563+22044C>G c.1971G>C (p.Met657Ile) | gnomAD v4 |
| 4 | g.47936748C>T | CA356824087 | CNGA1,NIPAL1 | c.1734G>A (p.Met578Ile) c.1746G>A (p.Met582Ile) c.1953G>A (p.Met651Ile) n.478+22044C>T n.563+22044C>T c.1971G>A (p.Met657Ile) | dbSNP |
| 4 | g.47936749A= | CA1455551694 | CNGA1,NIPAL1 | c.1733T= (p.Met578=) c.1745T= (p.Met582=) c.1952T= (p.Met651=) n.478+22045A= n.563+22045A= c.1970T= (p.Met657=) | |
| 4 | g.47936749A>C | CA356824091 | CNGA1,NIPAL1 | c.1733T>G (p.Met578Arg) c.1745T>G (p.Met582Arg) c.1952T>G (p.Met651Arg) n.478+22045A>C n.563+22045A>C c.1970T>G (p.Met657Arg) | |
| 4 | g.47936749A>G | CA356824094 | CNGA1,NIPAL1 | c.1733T>C (p.Met578Thr) c.1745T>C (p.Met582Thr) c.1952T>C (p.Met651Thr) n.478+22045A>G n.563+22045A>G c.1970T>C (p.Met657Thr) | gnomAD v4 |
| 4 | g.47936749A>T | CA2911024 | CNGA1,NIPAL1 | c.1733T>A (p.Met578Lys) c.1745T>A (p.Met582Lys) c.1952T>A (p.Met651Lys) n.478+22045A>T n.563+22045A>T c.1970T>A (p.Met657Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.47936750T>A | CA356824099 | CNGA1,NIPAL1 | c.1732A>T (p.Met578Leu) c.1744A>T (p.Met582Leu) c.1951A>T (p.Met651Leu) n.478+22046T>A n.563+22046T>A c.1969A>T (p.Met657Leu) | |
| 4 | g.47936750T>C | CA356824101 | CNGA1,NIPAL1 | c.1732A>G (p.Met578Val) c.1744A>G (p.Met582Val) c.1951A>G (p.Met651Val) n.478+22046T>C n.563+22046T>C c.1969A>G (p.Met657Val) | gnomAD v4 |
| 4 | g.47936750T>G | CA356824104 | CNGA1,NIPAL1 | c.1732A>C (p.Met578Leu) c.1744A>C (p.Met582Leu) c.1951A>C (p.Met651Leu) n.478+22046T>G n.563+22046T>G c.1969A>C (p.Met657Leu) | |
| 4 | g.47936751G>A | CA2911025 | CNGA1,NIPAL1 | c.1731C>T (p.Leu577=) c.1743C>T (p.Leu581=) c.1950C>T (p.Leu650=) n.478+22047G>A n.563+22047G>A c.1968C>T (p.Leu656=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.47936751G>C | CA439403980 | CNGA1,NIPAL1 | c.1731C>G (p.Leu577=) c.1743C>G (p.Leu581=) c.1950C>G (p.Leu650=) n.478+22047G>C n.563+22047G>C c.1968C>G (p.Leu656=) | COSMIC |
| 4 | g.47936751G= | CA1455551695 | CNGA1,NIPAL1 | c.1731C= (p.Leu577=) c.1743C= (p.Leu581=) c.1950C= (p.Leu650=) n.478+22047G= n.563+22047G= c.1968C= (p.Leu656=) | |
| 4 | g.47936751G>T | CA439403978 | CNGA1,NIPAL1 | c.1731C>A (p.Leu577=) c.1743C>A (p.Leu581=) c.1950C>A (p.Leu650=) n.478+22047G>T n.563+22047G>T c.1968C>A (p.Leu656=) | |
| 4 | g.47936752A>C | CA356824110 | CNGA1,NIPAL1 | c.1730T>G (p.Leu577Arg) c.1742T>G (p.Leu581Arg) c.1949T>G (p.Leu650Arg) n.478+22048A>C n.563+22048A>C c.1967T>G (p.Leu656Arg) | |
| 4 | g.47936752A>G | CA356824112 | CNGA1,NIPAL1 | c.1730T>C (p.Leu577Pro) c.1742T>C (p.Leu581Pro) c.1949T>C (p.Leu650Pro) n.478+22048A>G n.563+22048A>G c.1967T>C (p.Leu656Pro) | |
| 4 | g.47936752A>T | CA356824115 | CNGA1,NIPAL1 | c.1730T>A (p.Leu577His) c.1742T>A (p.Leu581His) c.1949T>A (p.Leu650His) n.478+22048A>T n.563+22048A>T c.1967T>A (p.Leu656His) | |
| 4 | g.47936753G>A | CA356824118 | CNGA1,NIPAL1 | c.1729C>T (p.Leu577Phe) c.1741C>T (p.Leu581Phe) c.1948C>T (p.Leu650Phe) n.478+22049G>A n.563+22049G>A c.1966C>T (p.Leu656Phe) | dbSNP |
| 4 | g.47936753G>C | CA356824122 | CNGA1,NIPAL1 | c.1729C>G (p.Leu577Val) c.1741C>G (p.Leu581Val) c.1948C>G (p.Leu650Val) n.478+22049G>C n.563+22049G>C c.1966C>G (p.Leu656Val) | |
| 4 | g.47936753G= | CA1455551696 | CNGA1,NIPAL1 | c.1729C= (p.Leu577=) c.1741C= (p.Leu581=) c.1948C= (p.Leu650=) n.478+22049G= n.563+22049G= c.1966C= (p.Leu656=) | |
| 4 | g.47936753G>T | CA356824120 | CNGA1,NIPAL1 | c.1729C>A (p.Leu577Ile) c.1741C>A (p.Leu581Ile) c.1948C>A (p.Leu650Ile) n.478+22049G>T n.563+22049G>T c.1966C>A (p.Leu656Ile) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.47936754G>A | CA439403981 | CNGA1,NIPAL1 | c.1728C>T (p.Asp576=) c.1740C>T (p.Asp580=) c.1947C>T (p.Asp649=) n.478+22050G>A n.563+22050G>A c.1965C>T (p.Asp655=) | |
| 4 | g.47936754G>C | CA356824125 | CNGA1,NIPAL1 | c.1728C>G (p.Asp576Glu) c.1740C>G (p.Asp580Glu) c.1947C>G (p.Asp649Glu) n.478+22050G>C n.563+22050G>C c.1965C>G (p.Asp655Glu) | |
| 4 | g.47936754G= | CA1455551697 | CNGA1,NIPAL1 | c.1728C= (p.Asp576=) c.1740C= (p.Asp580=) c.1947C= (p.Asp649=) n.478+22050G= n.563+22050G= c.1965C= (p.Asp655=) | |
| 4 | g.47936754G>T | CA356824128 | CNGA1,NIPAL1 | c.1728C>A (p.Asp576Glu) c.1740C>A (p.Asp580Glu) c.1947C>A (p.Asp649Glu) n.478+22050G>T n.563+22050G>T c.1965C>A (p.Asp655Glu) | dbSNP |
| 4 | g.47936755T>A | CA356824131 | CNGA1,NIPAL1 | c.1727A>T (p.Asp576Val) c.1739A>T (p.Asp580Val) c.1946A>T (p.Asp649Val) n.478+22051T>A n.563+22051T>A c.1964A>T (p.Asp655Val) | |
| 4 | g.47936755T>C | CA356824134 | CNGA1,NIPAL1 | c.1727A>G (p.Asp576Gly) c.1739A>G (p.Asp580Gly) c.1946A>G (p.Asp649Gly) n.478+22051T>C n.563+22051T>C c.1964A>G (p.Asp655Gly) | |
| 4 | g.47936755T>G | CA356824136 | CNGA1,NIPAL1 | c.1727A>C (p.Asp576Ala) c.1739A>C (p.Asp580Ala) c.1946A>C (p.Asp649Ala) n.478+22051T>G n.563+22051T>G c.1964A>C (p.Asp655Ala) | |
| 4 | g.47936756C>A | CA356824139 | CNGA1,NIPAL1 | c.1726G>T (p.Asp576Tyr) c.1738G>T (p.Asp580Tyr) c.1945G>T (p.Asp649Tyr) n.478+22052C>A n.563+22052C>A c.1963G>T (p.Asp655Tyr) | |
| 4 | g.47936756C>G | CA356824142 | CNGA1,NIPAL1 | c.1726G>C (p.Asp576His) c.1738G>C (p.Asp580His) c.1945G>C (p.Asp649His) n.478+22052C>G n.563+22052C>G c.1963G>C (p.Asp655His) | |
| 4 | g.47936756C>T | CA356824144 | CNGA1,NIPAL1 | c.1726G>A (p.Asp576Asn) c.1738G>A (p.Asp580Asn) c.1945G>A (p.Asp649Asn) n.478+22052C>T n.563+22052C>T c.1963G>A (p.Asp655Asn) | |
| 4 | g.47936757A>C | CA356824148 | CNGA1,NIPAL1 | c.1725T>G (p.Asp575Glu) c.1737T>G (p.Asp579Glu) c.1944T>G (p.Asp648Glu) n.478+22053A>C n.563+22053A>C c.1962T>G (p.Asp654Glu) | |
| 4 | g.47936757A>G | CA439403982 | CNGA1,NIPAL1 | c.1725T>C (p.Asp575=) c.1737T>C (p.Asp579=) c.1944T>C (p.Asp648=) n.478+22053A>G n.563+22053A>G c.1962T>C (p.Asp654=) | |
| 4 | g.47936757A>T | CA356824151 | CNGA1,NIPAL1 | c.1725T>A (p.Asp575Glu) c.1737T>A (p.Asp579Glu) c.1944T>A (p.Asp648Glu) n.478+22053A>T n.563+22053A>T c.1962T>A (p.Asp654Glu) | |
| 4 | g.47936758T>A | CA356824157 | CNGA1,NIPAL1 | c.1724A>T (p.Asp575Val) c.1736A>T (p.Asp579Val) c.1943A>T (p.Asp648Val) n.478+22054T>A n.563+22054T>A c.1961A>T (p.Asp654Val) | |
| 4 | g.47936758T>C | CA356824160 | CNGA1,NIPAL1 | c.1724A>G (p.Asp575Gly) c.1736A>G (p.Asp579Gly) c.1943A>G (p.Asp648Gly) n.478+22054T>C n.563+22054T>C c.1961A>G (p.Asp654Gly) | |
| 4 | g.47936758T>G | CA356824155 | CNGA1,NIPAL1 | c.1724A>C (p.Asp575Ala) c.1736A>C (p.Asp579Ala) c.1943A>C (p.Asp648Ala) n.478+22054T>G n.563+22054T>G c.1961A>C (p.Asp654Ala) | |
| 4 | g.47936759C>A | CA356824171 | CNGA1,NIPAL1 | c.1723G>T (p.Asp575Tyr) c.1735G>T (p.Asp579Tyr) c.1942G>T (p.Asp648Tyr) n.478+22055C>A n.563+22055C>A c.1960G>T (p.Asp654Tyr) | |
| 4 | g.47936759C= | CA1455551699 | CNGA1,NIPAL1 | c.1723G= (p.Asp575=) c.1735G= (p.Asp579=) c.1942G= (p.Asp648=) n.478+22055C= n.563+22055C= c.1960G= (p.Asp654=) | |
| 4 | g.47936759C>G | CA356824164 | CNGA1,NIPAL1 | c.1723G>C (p.Asp575His) c.1735G>C (p.Asp579His) c.1942G>C (p.Asp648His) n.478+22055C>G n.563+22055C>G c.1960G>C (p.Asp654His) | |
| 4 | g.47936759C>T | CA356824167 | CNGA1,NIPAL1 | c.1723G>A (p.Asp575Asn) c.1735G>A (p.Asp579Asn) c.1942G>A (p.Asp648Asn) n.478+22055C>T n.563+22055C>T c.1960G>A (p.Asp654Asn) | dbSNP |
| 4 | g.47936759_47936760delinsCT | CA1455551698 | CNGA1,NIPAL1 | c.1722_1723delinsAG (p.Lys574=) c.1734_1735delinsAG (p.Lys578=) c.1941_1942delinsAG (p.Lys647=) n.478+22055_478+22056delinsCT n.563+22055_563+22056delinsCT c.1959_1960delinsAG (p.Lys653=) | |
| 4 | g.47936760T>A | CA356824174 | CNGA1,NIPAL1 | c.1722A>T (p.Lys574Asn) c.1734A>T (p.Lys578Asn) c.1941A>T (p.Lys647Asn) n.478+22056T>A n.563+22056T>A c.1959A>T (p.Lys653Asn) | |
| 4 | g.47936760T>C | CA439403983 | CNGA1,NIPAL1 | c.1722A>G (p.Lys574=) c.1734A>G (p.Lys578=) c.1941A>G (p.Lys647=) n.478+22056T>C n.563+22056T>C c.1959A>G (p.Lys653=) | |
| 4 | g.47936760T>G | CA356824176 | CNGA1,NIPAL1 | c.1722A>C (p.Lys574Asn) c.1734A>C (p.Lys578Asn) c.1941A>C (p.Lys647Asn) n.478+22056T>G n.563+22056T>G c.1959A>C (p.Lys653Asn) | |
| 4 | g.47936763del | CA551650444 | CNGA1,NIPAL1 | c.1722del (p.Asp575MetfsTer7) c.1734del (p.Asp579MetfsTer7) c.1941del (p.Asp648MetfsTer7) n.478+22059del n.563+22059del c.1959del (p.Asp654MetfsTer7) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.47936761T>A | CA356824180 | CNGA1,NIPAL1 | c.1721A>T (p.Lys574Ile) c.1733A>T (p.Lys578Ile) c.1940A>T (p.Lys647Ile) n.478+22057T>A n.563+22057T>A c.1958A>T (p.Lys653Ile) | |
| 4 | g.47936761T>C | CA356824183 | CNGA1,NIPAL1 | c.1721A>G (p.Lys574Arg) c.1733A>G (p.Lys578Arg) c.1940A>G (p.Lys647Arg) n.478+22057T>C n.563+22057T>C c.1958A>G (p.Lys653Arg) | |
| 4 | g.47936761T>G | CA356824185 | CNGA1,NIPAL1 | c.1721A>C (p.Lys574Thr) c.1733A>C (p.Lys578Thr) c.1940A>C (p.Lys647Thr) n.478+22057T>G n.563+22057T>G c.1958A>C (p.Lys653Thr) | |
| 4 | g.47936762T>A | CA356824190 | CNGA1,NIPAL1 | c.1720A>T (p.Lys574Ter) c.1732A>T (p.Lys578Ter) c.1939A>T (p.Lys647Ter) n.478+22058T>A n.563+22058T>A c.1957A>T (p.Lys653Ter) | |
| 4 | g.47936762T>C | CA356824192 | CNGA1,NIPAL1 | c.1720A>G (p.Lys574Glu) c.1732A>G (p.Lys578Glu) c.1939A>G (p.Lys647Glu) n.478+22058T>C n.563+22058T>C c.1957A>G (p.Lys653Glu) | |
| 4 | g.47936762T>G | CA356824193 | CNGA1,NIPAL1 | c.1720A>C (p.Lys574Gln) c.1732A>C (p.Lys578Gln) c.1939A>C (p.Lys647Gln) n.478+22058T>G n.563+22058T>G c.1957A>C (p.Lys653Gln) | |
| 4 | g.47936763T>A | CA439403985 | CNGA1,NIPAL1 | c.1719A>T (p.Ser573=) c.1731A>T (p.Ser577=) c.1938A>T (p.Ser646=) n.478+22059T>A n.563+22059T>A c.1956A>T (p.Ser652=) | |
| 4 | g.47936763T>C | CA439403986 | CNGA1,NIPAL1 | c.1719A>G (p.Ser573=) c.1731A>G (p.Ser577=) c.1938A>G (p.Ser646=) n.478+22059T>C n.563+22059T>C c.1956A>G (p.Ser652=) | |
| 4 | g.47936763T>G | CA439403987 | CNGA1,NIPAL1 | c.1719A>C (p.Ser573=) c.1731A>C (p.Ser577=) c.1938A>C (p.Ser646=) n.478+22059T>G n.563+22059T>G c.1956A>C (p.Ser652=) | |
| 4 | g.47936764G>A | CA356824198 | CNGA1,NIPAL1 | c.1718C>T (p.Ser573Leu) c.1730C>T (p.Ser577Leu) c.1937C>T (p.Ser646Leu) n.478+22060G>A n.563+22060G>A c.1955C>T (p.Ser652Leu) | |
| 4 | g.47936764G>C | CA356824201 | CNGA1,NIPAL1 | c.1718C>G (p.Ser573Ter) c.1730C>G (p.Ser577Ter) c.1937C>G (p.Ser646Ter) n.478+22060G>C n.563+22060G>C c.1955C>G (p.Ser652Ter) | COSMIC COSMIC |
| 4 | g.47936764G>T | CA356824204 | CNGA1,NIPAL1 | c.1718C>A (p.Ser573Ter) c.1730C>A (p.Ser577Ter) c.1937C>A (p.Ser646Ter) n.478+22060G>T n.563+22060G>T c.1955C>A (p.Ser652Ter) | |
| 4 | g.47936765A>C | CA356824208 | CNGA1,NIPAL1 | c.1717T>G (p.Ser573Ala) c.1729T>G (p.Ser577Ala) c.1936T>G (p.Ser646Ala) n.478+22061A>C n.563+22061A>C c.1954T>G (p.Ser652Ala) | |
| 4 | g.47936765A>G | CA356824214 | CNGA1,NIPAL1 | c.1717T>C (p.Ser573Pro) c.1729T>C (p.Ser577Pro) c.1936T>C (p.Ser646Pro) n.478+22061A>G n.563+22061A>G c.1954T>C (p.Ser652Pro) | |
| 4 | g.47936765A>T | CA356824211 | CNGA1,NIPAL1 | c.1717T>A (p.Ser573Thr) c.1729T>A (p.Ser577Thr) c.1936T>A (p.Ser646Thr) n.478+22061A>T n.563+22061A>T c.1954T>A (p.Ser652Thr) | |
| 4 | g.47936766G>A | CA439403989 | CNGA1,NIPAL1 | c.1716C>T (p.Leu572=) c.1728C>T (p.Leu576=) c.1935C>T (p.Leu645=) n.478+22062G>A n.563+22062G>A c.1953C>T (p.Leu651=) | gnomAD v4 |
| 4 | g.47936766G>C | CA439403990 | CNGA1,NIPAL1 | c.1716C>G (p.Leu572=) c.1728C>G (p.Leu576=) c.1935C>G (p.Leu645=) n.478+22062G>C n.563+22062G>C c.1953C>G (p.Leu651=) | |
| 4 | g.47936766G>T | CA439403992 | CNGA1,NIPAL1 | c.1716C>A (p.Leu572=) c.1728C>A (p.Leu576=) c.1935C>A (p.Leu645=) n.478+22062G>T n.563+22062G>T c.1953C>A (p.Leu651=) | |
| 4 | g.47936767A>C | CA356824218 | CNGA1,NIPAL1 | c.1715T>G (p.Leu572Arg) c.1727T>G (p.Leu576Arg) c.1934T>G (p.Leu645Arg) n.478+22063A>C n.563+22063A>C c.1952T>G (p.Leu651Arg) | |
| 4 | g.47936767A>G | CA356824221 | CNGA1,NIPAL1 | c.1715T>C (p.Leu572Pro) c.1727T>C (p.Leu576Pro) c.1934T>C (p.Leu645Pro) n.478+22063A>G n.563+22063A>G c.1952T>C (p.Leu651Pro) | |
| 4 | g.47936767A>T | CA356824223 | CNGA1,NIPAL1 | c.1715T>A (p.Leu572His) c.1727T>A (p.Leu576His) c.1934T>A (p.Leu645His) n.478+22063A>T n.563+22063A>T c.1952T>A (p.Leu651His) | |
| 4 | g.47936768G>A | CA356824225 | CNGA1,NIPAL1 | c.1714C>T (p.Leu572Phe) c.1726C>T (p.Leu576Phe) c.1933C>T (p.Leu645Phe) n.478+22064G>A n.563+22064G>A c.1951C>T (p.Leu651Phe) | |
| 4 | g.47936768G>C | CA356824227 | CNGA1,NIPAL1 | c.1714C>G (p.Leu572Val) c.1726C>G (p.Leu576Val) c.1933C>G (p.Leu645Val) n.478+22064G>C n.563+22064G>C c.1951C>G (p.Leu651Val) | |
| 4 | g.47936768G>T | CA356824231 | CNGA1,NIPAL1 | c.1714C>A (p.Leu572Ile) c.1726C>A (p.Leu576Ile) c.1933C>A (p.Leu645Ile) n.478+22064G>T n.563+22064G>T c.1951C>A (p.Leu651Ile) | |
| 4 | g.47936769A>C | CA356824235 | CNGA1,NIPAL1 | c.1713T>G (p.Cys571Trp) c.1725T>G (p.Cys575Trp) c.1932T>G (p.Cys644Trp) n.478+22065A>C n.563+22065A>C c.1950T>G (p.Cys650Trp) | |
| 4 | g.47936769A>G | CA439403993 | CNGA1,NIPAL1 | c.1713T>C (p.Cys571=) c.1725T>C (p.Cys575=) c.1932T>C (p.Cys644=) n.478+22065A>G n.563+22065A>G c.1950T>C (p.Cys650=) | gnomAD v4 |
| 4 | g.47936769A>T | CA356824237 | CNGA1,NIPAL1 | c.1713T>A (p.Cys571Ter) c.1725T>A (p.Cys575Ter) c.1932T>A (p.Cys644Ter) n.478+22065A>T n.563+22065A>T c.1950T>A (p.Cys650Ter) | |
| 4 | g.47936770C>A | CA356824241 | CNGA1,NIPAL1 | c.1712G>T (p.Cys571Phe) c.1724G>T (p.Cys575Phe) c.1931G>T (p.Cys644Phe) n.478+22066C>A n.563+22066C>A c.1949G>T (p.Cys650Phe) | |
| 4 | g.47936770C= | CA1455551700 | CNGA1,NIPAL1 | c.1712G= (p.Cys571=) c.1724G= (p.Cys575=) c.1931G= (p.Cys644=) n.478+22066C= n.563+22066C= c.1949G= (p.Cys650=) | |
| 4 | g.47936770C>G | CA356824244 | CNGA1,NIPAL1 | c.1712G>C (p.Cys571Ser) c.1724G>C (p.Cys575Ser) c.1931G>C (p.Cys644Ser) n.478+22066C>G n.563+22066C>G c.1949G>C (p.Cys650Ser) | |
| 4 | g.47936770C>T | CA10621162 | CNGA1,NIPAL1 | c.1712G>A (p.Cys571Tyr) c.1724G>A (p.Cys575Tyr) c.1931G>A (p.Cys644Tyr) n.478+22066C>T n.563+22066C>T c.1949G>A (p.Cys650Tyr) | ClinVar dbSNP |
| 4 | g.47936771A>C | CA356824252 | CNGA1,NIPAL1 | c.1711T>G (p.Cys571Gly) c.1723T>G (p.Cys575Gly) c.1930T>G (p.Cys644Gly) n.478+22067A>C n.563+22067A>C c.1948T>G (p.Cys650Gly) | |
| 4 | g.47936771A>G | CA356824257 | CNGA1,NIPAL1 | c.1711T>C (p.Cys571Arg) c.1723T>C (p.Cys575Arg) c.1930T>C (p.Cys644Arg) n.478+22067A>G n.563+22067A>G c.1948T>C (p.Cys650Arg) | |
| 4 | g.47936771A>T | CA356824250 | CNGA1,NIPAL1 | c.1711T>A (p.Cys571Ser) c.1723T>A (p.Cys575Ser) c.1930T>A (p.Cys644Ser) n.478+22067A>T n.563+22067A>T c.1948T>A (p.Cys650Ser) | |
| 4 | g.47936772G>A | CA439403995 | CNGA1,NIPAL1 | c.1710C>T (p.Phe570=) c.1722C>T (p.Phe574=) c.1929C>T (p.Phe643=) n.478+22068G>A n.563+22068G>A c.1947C>T (p.Phe649=) | |
| 4 | g.47936772G>C | CA356824261 | CNGA1,NIPAL1 | c.1710C>G (p.Phe570Leu) c.1722C>G (p.Phe574Leu) c.1929C>G (p.Phe643Leu) n.478+22068G>C n.563+22068G>C c.1947C>G (p.Phe649Leu) | |
| 4 | g.47936772G>T | CA356824264 | CNGA1,NIPAL1 | c.1710C>A (p.Phe570Leu) c.1722C>A (p.Phe574Leu) c.1929C>A (p.Phe643Leu) n.478+22068G>T n.563+22068G>T c.1947C>A (p.Phe649Leu) | gnomAD v4 |
| 4 | g.47936773A>C | CA356824268 | CNGA1,NIPAL1 | c.1709T>G (p.Phe570Cys) c.1721T>G (p.Phe574Cys) c.1928T>G (p.Phe643Cys) n.478+22069A>C n.563+22069A>C c.1946T>G (p.Phe649Cys) | |
| 4 | g.47936773A>G | CA356824269 | CNGA1,NIPAL1 | c.1709T>C (p.Phe570Ser) c.1721T>C (p.Phe574Ser) c.1928T>C (p.Phe643Ser) n.478+22069A>G n.563+22069A>G c.1946T>C (p.Phe649Ser) | |
| 4 | g.47936773A>T | CA356824271 | CNGA1,NIPAL1 | c.1709T>A (p.Phe570Tyr) c.1721T>A (p.Phe574Tyr) c.1928T>A (p.Phe643Tyr) n.478+22069A>T n.563+22069A>T c.1946T>A (p.Phe649Tyr) | |
| 4 | g.47936774A= | CA1455551701 | CNGA1,NIPAL1 | c.1708T= (p.Phe570=) c.1720T= (p.Phe574=) c.1927T= (p.Phe643=) n.478+22070A= n.563+22070A= c.1945T= (p.Phe649=) | |
| 4 | g.47936774A>C | CA356824276 | CNGA1,NIPAL1 | c.1708T>G (p.Phe570Val) c.1720T>G (p.Phe574Val) c.1927T>G (p.Phe643Val) n.478+22070A>C n.563+22070A>C c.1945T>G (p.Phe649Val) | |
| 4 | g.47936774A>G | CA356824279 | CNGA1,NIPAL1 | c.1708T>C (p.Phe570Leu) c.1720T>C (p.Phe574Leu) c.1927T>C (p.Phe643Leu) n.478+22070A>G n.563+22070A>G c.1945T>C (p.Phe649Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.47936774A>T | CA356824282 | CNGA1,NIPAL1 | c.1708T>A (p.Phe570Ile) c.1720T>A (p.Phe574Ile) c.1927T>A (p.Phe643Ile) n.478+22070A>T n.563+22070A>T c.1945T>A (p.Phe649Ile) | |
| 4 | g.47936775C>A | CA439403997 | CNGA1,NIPAL1 | c.1707G>T (p.Leu569=) c.1719G>T (p.Leu573=) c.1926G>T (p.Leu642=) n.478+22071C>A n.563+22071C>A c.1944G>T (p.Leu648=) | |
| 4 | g.47936775C>G | CA439403999 | CNGA1,NIPAL1 | c.1707G>C (p.Leu569=) c.1719G>C (p.Leu573=) c.1926G>C (p.Leu642=) n.478+22071C>G n.563+22071C>G c.1944G>C (p.Leu648=) | |
| 4 | g.47936775C>T | CA439404000 | CNGA1,NIPAL1 | c.1707G>A (p.Leu569=) c.1719G>A (p.Leu573=) c.1926G>A (p.Leu642=) n.478+22071C>T n.563+22071C>T c.1944G>A (p.Leu648=) | |
| 4 | g.47936776A>C | CA356824286 | CNGA1,NIPAL1 | c.1706T>G (p.Leu569Arg) c.1718T>G (p.Leu573Arg) c.1925T>G (p.Leu642Arg) n.478+22072A>C n.563+22072A>C c.1943T>G (p.Leu648Arg) | |
| 4 | g.47936776A>G | CA356824288 | CNGA1,NIPAL1 | c.1706T>C (p.Leu569Pro) c.1718T>C (p.Leu573Pro) c.1925T>C (p.Leu642Pro) n.478+22072A>G n.563+22072A>G c.1943T>C (p.Leu648Pro) | |
| 4 | g.47936776A>T | CA356824290 | CNGA1,NIPAL1 | c.1706T>A (p.Leu569Gln) c.1718T>A (p.Leu573Gln) c.1925T>A (p.Leu642Gln) n.478+22072A>T n.563+22072A>T c.1943T>A (p.Leu648Gln) | |
| 4 | g.47936777G>A | CA439404002 | CNGA1,NIPAL1 | c.1705C>T (p.Leu569=) c.1717C>T (p.Leu573=) c.1924C>T (p.Leu642=) n.478+22073G>A n.563+22073G>A c.1942C>T (p.Leu648=) | gnomAD v4 |
| 4 | g.47936777G>C | CA356824295 | CNGA1,NIPAL1 | c.1705C>G (p.Leu569Val) c.1717C>G (p.Leu573Val) c.1924C>G (p.Leu642Val) n.478+22073G>C n.563+22073G>C c.1942C>G (p.Leu648Val) | |
| 4 | g.47936777G>T | CA356824296 | CNGA1,NIPAL1 | c.1705C>A (p.Leu569Met) c.1717C>A (p.Leu573Met) c.1924C>A (p.Leu642Met) n.478+22073G>T n.563+22073G>T c.1942C>A (p.Leu648Met) | gnomAD v4 |
| 4 | g.47936777_47936778insA | CA2499217217 | CNGA1,NIPAL1 | c.1704_1705insT (p.Leu569SerfsTer8) c.1716_1717insT (p.Leu573SerfsTer8) c.1923_1924insT (p.Leu642SerfsTer8) n.478+22073_478+22074insA n.563+22073_563+22074insA c.1941_1942insT (p.Leu648SerfsTer8) | ClinVar dbSNP |
| 4 | g.47936778G>A | CA439404003 | CNGA1,NIPAL1 | c.1704C>T (p.Asp568=) c.1716C>T (p.Asp572=) c.1923C>T (p.Asp641=) n.478+22074G>A n.563+22074G>A c.1941C>T (p.Asp647=) | |
| 4 | g.47936778G>C | CA356824302 | CNGA1,NIPAL1 | c.1704C>G (p.Asp568Glu) c.1716C>G (p.Asp572Glu) c.1923C>G (p.Asp641Glu) n.478+22074G>C n.563+22074G>C c.1941C>G (p.Asp647Glu) | |
| 4 | g.47936778G= | CA1455551702 | CNGA1,NIPAL1 | c.1704C= (p.Asp568=) c.1716C= (p.Asp572=) c.1923C= (p.Asp641=) n.478+22074G= n.563+22074G= c.1941C= (p.Asp647=) | |
| 4 | g.47936778G>T | CA96688181 | CNGA1,NIPAL1 | c.1704C>A (p.Asp568Glu) c.1716C>A (p.Asp572Glu) c.1923C>A (p.Asp641Glu) n.478+22074G>T n.563+22074G>T c.1941C>A (p.Asp647Glu) | dbSNP gnomAD v4 |
| 4 | g.47936779T>A | CA356824307 | CNGA1,NIPAL1 | c.1703A>T (p.Asp568Val) c.1715A>T (p.Asp572Val) c.1922A>T (p.Asp641Val) n.478+22075T>A n.563+22075T>A c.1940A>T (p.Asp647Val) | |
| 4 | g.47936779T>C | CA356824309 | CNGA1,NIPAL1 | c.1703A>G (p.Asp568Gly) c.1715A>G (p.Asp572Gly) c.1922A>G (p.Asp641Gly) n.478+22075T>C n.563+22075T>C c.1940A>G (p.Asp647Gly) | |
| 4 | g.47936779T>G | CA356824312 | CNGA1,NIPAL1 | c.1703A>C (p.Asp568Ala) c.1715A>C (p.Asp572Ala) c.1922A>C (p.Asp641Ala) n.478+22075T>G n.563+22075T>G c.1940A>C (p.Asp647Ala) | |
| 4 | g.47936779dup | CA645531849 | CNGA1,NIPAL1 | c.1703dup (p.Asp568GlufsTer9) c.1715dup (p.Asp572GlufsTer9) c.1922dup (p.Asp641GlufsTer9) n.478+22075dup n.563+22075dup c.1940dup (p.Asp647GlufsTer9) | COSMIC |
| 4 | g.47936779_47936793delinsTCTGAGTAGCCAATA | CA1455551703 | CNGA1,NIPAL1 | c.1689_1703delinsTATTGGCTACTCAGA (p.Ser563=) c.1701_1715delinsTATTGGCTACTCAGA (p.Ser567=) c.1908_1922delinsTATTGGCTACTCAGA (p.Ser636=) n.478+22075_478+22089delinsTCTGAGTAGCCAATA n.563+22075_563+22089delinsTCTGAGTAGCCAATA c.1926_1940delinsTATTGGCTACTCAGA (p.Ser642=) | |
| 4 | g.47936780C>A | CA356824318 | CNGA1,NIPAL1 | c.1702G>T (p.Asp568Tyr) c.1714G>T (p.Asp572Tyr) c.1921G>T (p.Asp641Tyr) n.478+22076C>A n.563+22076C>A c.1939G>T (p.Asp647Tyr) | |
| 4 | g.47936780C>G | CA356824321 | CNGA1,NIPAL1 | c.1702G>C (p.Asp568His) c.1714G>C (p.Asp572His) c.1921G>C (p.Asp641His) n.478+22076C>G n.563+22076C>G c.1939G>C (p.Asp647His) | |
| 4 | g.47936780C>T | CA356824324 | CNGA1,NIPAL1 | c.1702G>A (p.Asp568Asn) c.1714G>A (p.Asp572Asn) c.1921G>A (p.Asp641Asn) n.478+22076C>T n.563+22076C>T c.1939G>A (p.Asp647Asn) | |
| 4 | g.47936782_47936795del | CA2911026 | CNGA1,NIPAL1 | c.1689_1702del (p.Ser563ArgfsTer9) c.1701_1714del (p.Ser567ArgfsTer9) c.1908_1921del (p.Ser636ArgfsTer9) n.478+22078_478+22091del n.563+22078_563+22091del c.1926_1939del (p.Ser642ArgfsTer9) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.47936781T>A | CA439404008 | CNGA1,NIPAL1 | c.1701A>T (p.Ser567=) c.1713A>T (p.Ser571=) c.1920A>T (p.Ser640=) n.478+22077T>A n.563+22077T>A c.1938A>T (p.Ser646=) | |
| 4 | g.47936781T>C | CA439404009 | CNGA1,NIPAL1 | c.1701A>G (p.Ser567=) c.1713A>G (p.Ser571=) c.1920A>G (p.Ser640=) n.478+22077T>C n.563+22077T>C c.1938A>G (p.Ser646=) | |
| 4 | g.47936781T>G | CA439404010 | CNGA1,NIPAL1 | c.1701A>C (p.Ser567=) c.1713A>C (p.Ser571=) c.1920A>C (p.Ser640=) n.478+22077T>G n.563+22077T>G c.1938A>C (p.Ser646=) | |
| 4 | g.47936782G>A | CA356824329 | CNGA1,NIPAL1 | c.1700C>T (p.Ser567Leu) c.1712C>T (p.Ser571Leu) c.1919C>T (p.Ser640Leu) n.478+22078G>A n.563+22078G>A c.1937C>T (p.Ser646Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.47936782G>C | CA356824335 | CNGA1,NIPAL1 | c.1700C>G (p.Ser567Ter) c.1712C>G (p.Ser571Ter) c.1919C>G (p.Ser640Ter) n.478+22078G>C n.563+22078G>C c.1937C>G (p.Ser646Ter) | |
| 4 | g.47936782G= | CA1455551704 | CNGA1,NIPAL1 | c.1700C= (p.Ser567=) c.1712C= (p.Ser571=) c.1919C= (p.Ser640=) n.478+22078G= n.563+22078G= c.1937C= (p.Ser646=) | |
| 4 | g.47936782G>T | CA356824332 | CNGA1,NIPAL1 | c.1700C>A (p.Ser567Ter) c.1712C>A (p.Ser571Ter) c.1919C>A (p.Ser640Ter) n.478+22078G>T n.563+22078G>T c.1937C>A (p.Ser646Ter) | |
| 4 | g.47936783A>C | CA356824338 | CNGA1,NIPAL1 | c.1699T>G (p.Ser567Ala) c.1711T>G (p.Ser571Ala) c.1918T>G (p.Ser640Ala) n.478+22079A>C n.563+22079A>C c.1936T>G (p.Ser646Ala) | |
| 4 | g.47936783A>G | CA356824341 | CNGA1,NIPAL1 | c.1699T>C (p.Ser567Pro) c.1711T>C (p.Ser571Pro) c.1918T>C (p.Ser640Pro) n.478+22079A>G n.563+22079A>G c.1936T>C (p.Ser646Pro) | |
| 4 | g.47936783A>T | CA356824344 | CNGA1,NIPAL1 | c.1699T>A (p.Ser567Thr) c.1711T>A (p.Ser571Thr) c.1918T>A (p.Ser640Thr) n.478+22079A>T n.563+22079A>T c.1936T>A (p.Ser646Thr) | gnomAD v4 |
| 4 | g.47936784G>A | CA439404012 | CNGA1,NIPAL1 | c.1698C>T (p.Tyr566=) c.1710C>T (p.Tyr570=) c.1917C>T (p.Tyr639=) n.478+22080G>A n.563+22080G>A c.1935C>T (p.Tyr645=) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.47936784G>C | CA356824349 | CNGA1,NIPAL1 | c.1698C>G (p.Tyr566Ter) c.1710C>G (p.Tyr570Ter) c.1917C>G (p.Tyr639Ter) n.478+22080G>C n.563+22080G>C c.1935C>G (p.Tyr645Ter) | |
| 4 | g.47936784G= | CA1455551705 | CNGA1,NIPAL1 | c.1698C= (p.Tyr566=) c.1710C= (p.Tyr570=) c.1917C= (p.Tyr639=) n.478+22080G= n.563+22080G= c.1935C= (p.Tyr645=) | |
| 4 | g.47936784G>T | CA2911027 | CNGA1,NIPAL1 | c.1698C>A (p.Tyr566Ter) c.1710C>A (p.Tyr570Ter) c.1917C>A (p.Tyr639Ter) n.478+22080G>T n.563+22080G>T c.1935C>A (p.Tyr645Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.47936785T>A | CA356824356 | CNGA1,NIPAL1 | c.1697A>T (p.Tyr566Phe) c.1709A>T (p.Tyr570Phe) c.1916A>T (p.Tyr639Phe) n.478+22081T>A n.563+22081T>A c.1934A>T (p.Tyr645Phe) | |
| 4 | g.47936785T>C | CA356824358 | CNGA1,NIPAL1 | c.1697A>G (p.Tyr566Cys) c.1709A>G (p.Tyr570Cys) c.1916A>G (p.Tyr639Cys) n.478+22081T>C n.563+22081T>C c.1934A>G (p.Tyr645Cys) | |
| 4 | g.47936785T>G | CA356824354 | CNGA1,NIPAL1 | c.1697A>C (p.Tyr566Ser) c.1709A>C (p.Tyr570Ser) c.1916A>C (p.Tyr639Ser) n.478+22081T>G n.563+22081T>G c.1934A>C (p.Tyr645Ser) | |
| 4 | g.47936786A>C | CA356824364 | CNGA1,NIPAL1 | c.1696T>G (p.Tyr566Asp) c.1708T>G (p.Tyr570Asp) c.1915T>G (p.Tyr639Asp) n.478+22082A>C n.563+22082A>C c.1933T>G (p.Tyr645Asp) | |
| 4 | g.47936786A>G | CA356824362 | CNGA1,NIPAL1 | c.1696T>C (p.Tyr566His) c.1708T>C (p.Tyr570His) c.1915T>C (p.Tyr639His) n.478+22082A>G n.563+22082A>G c.1933T>C (p.Tyr645His) | gnomAD v4 |
| 4 | g.47936786A>T | CA356824367 | CNGA1,NIPAL1 | c.1696T>A (p.Tyr566Asn) c.1708T>A (p.Tyr570Asn) c.1915T>A (p.Tyr639Asn) n.478+22082A>T n.563+22082A>T c.1933T>A (p.Tyr645Asn) | |
| 4 | g.47936787G>A | CA439404015 | CNGA1,NIPAL1 | c.1695C>T (p.Gly565=) c.1707C>T (p.Gly569=) c.1914C>T (p.Gly638=) n.478+22083G>A n.563+22083G>A c.1932C>T (p.Gly644=) | gnomAD v4 |
| 4 | g.47936787G>C | CA439404014 | CNGA1,NIPAL1 | c.1695C>G (p.Gly565=) c.1707C>G (p.Gly569=) c.1914C>G (p.Gly638=) n.478+22083G>C n.563+22083G>C c.1932C>G (p.Gly644=) | |
| 4 | g.47936787G>T | CA439404013 | CNGA1,NIPAL1 | c.1695C>A (p.Gly565=) c.1707C>A (p.Gly569=) c.1914C>A (p.Gly638=) n.478+22083G>T n.563+22083G>T c.1932C>A (p.Gly644=) | |
| 4 | g.47936788C>A | CA356824368 | CNGA1,NIPAL1 | c.1694G>T (p.Gly565Val) c.1706G>T (p.Gly569Val) c.1913G>T (p.Gly638Val) n.478+22084C>A n.563+22084C>A c.1931G>T (p.Gly644Val) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 4 | g.47936788C= | CA1455551706 | CNGA1,NIPAL1 | c.1694G= (p.Gly565=) c.1706G= (p.Gly569=) c.1913G= (p.Gly638=) n.478+22084C= n.563+22084C= c.1931G= (p.Gly644=) | |
| 4 | g.47936788C>G | CA356824370 | CNGA1,NIPAL1 | c.1694G>C (p.Gly565Ala) c.1706G>C (p.Gly569Ala) c.1913G>C (p.Gly638Ala) n.478+22084C>G n.563+22084C>G c.1931G>C (p.Gly644Ala) | |
| 4 | g.47936788C>T | CA356824372 | CNGA1,NIPAL1 | c.1694G>A (p.Gly565Asp) c.1706G>A (p.Gly569Asp) c.1913G>A (p.Gly638Asp) n.478+22084C>T n.563+22084C>T c.1931G>A (p.Gly644Asp) | |
| 4 | g.47936789C>A | CA356824374 | CNGA1,NIPAL1 | c.1693G>T (p.Gly565Cys) c.1705G>T (p.Gly569Cys) c.1912G>T (p.Gly638Cys) n.478+22085C>A n.563+22085C>A c.1930G>T (p.Gly644Cys) | |
| 4 | g.47936789C= | CA1455551707 | CNGA1,NIPAL1 | c.1693G= (p.Gly565=) c.1705G= (p.Gly569=) c.1912G= (p.Gly638=) n.478+22085C= n.563+22085C= c.1930G= (p.Gly644=) | |
| 4 | g.47936789C>G | CA356824376 | CNGA1,NIPAL1 | c.1693G>C (p.Gly565Arg) c.1705G>C (p.Gly569Arg) c.1912G>C (p.Gly638Arg) n.478+22085C>G n.563+22085C>G c.1930G>C (p.Gly644Arg) | |
| 4 | g.47936789C>T | CA356824378 | CNGA1,NIPAL1 | c.1693G>A (p.Gly565Ser) c.1705G>A (p.Gly569Ser) c.1912G>A (p.Gly638Ser) n.478+22085C>T n.563+22085C>T c.1930G>A (p.Gly644Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.47936789_47936790del | CA2670552345 | CNGA1,NIPAL1 | c.1692_1693del (p.Ile564MetfsTer12) c.1704_1705del (p.Ile568MetfsTer12) c.1911_1912del (p.Ile637MetfsTer12) n.478+22085_478+22086del n.563+22085_563+22086del c.1929_1930del (p.Ile643MetfsTer12) | gnomAD v4 |
| 4 | g.47936790A>C | CA356824379 | CNGA1,NIPAL1 | c.1692T>G (p.Ile564Met) c.1704T>G (p.Ile568Met) c.1911T>G (p.Ile637Met) n.478+22086A>C n.563+22086A>C c.1929T>G (p.Ile643Met) | |
| 4 | g.47936790A>G | CA439404019 | CNGA1,NIPAL1 | c.1692T>C (p.Ile564=) c.1704T>C (p.Ile568=) c.1911T>C (p.Ile637=) n.478+22086A>G n.563+22086A>G c.1929T>C (p.Ile643=) | |
| 4 | g.47936790A>T | CA439404020 | CNGA1,NIPAL1 | c.1692T>A (p.Ile564=) c.1704T>A (p.Ile568=) c.1911T>A (p.Ile637=) n.478+22086A>T n.563+22086A>T c.1929T>A (p.Ile643=) | |
| 4 | g.47936791A= | CA1455551708 | CNGA1,NIPAL1 | c.1691T= (p.Ile564=) c.1703T= (p.Ile568=) c.1910T= (p.Ile637=) n.478+22087A= n.563+22087A= c.1928T= (p.Ile643=) | |
| 4 | g.47936791A>C | CA356824382 | CNGA1,NIPAL1 | c.1691T>G (p.Ile564Ser) c.1703T>G (p.Ile568Ser) c.1910T>G (p.Ile637Ser) n.478+22087A>C n.563+22087A>C c.1928T>G (p.Ile643Ser) | dbSNP |
| 4 | g.47936791A>G | CA356824384 | CNGA1,NIPAL1 | c.1691T>C (p.Ile564Thr) c.1703T>C (p.Ile568Thr) c.1910T>C (p.Ile637Thr) n.478+22087A>G n.563+22087A>G c.1928T>C (p.Ile643Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.47936791A>T | CA356824387 | CNGA1,NIPAL1 | c.1691T>A (p.Ile564Asn) c.1703T>A (p.Ile568Asn) c.1910T>A (p.Ile637Asn) n.478+22087A>T n.563+22087A>T c.1928T>A (p.Ile643Asn) | |
| 4 | g.47936792T>A | CA356824391 | CNGA1,NIPAL1 | c.1690A>T (p.Ile564Phe) c.1702A>T (p.Ile568Phe) c.1909A>T (p.Ile637Phe) n.478+22088T>A n.563+22088T>A c.1927A>T (p.Ile643Phe) | |
| 4 | g.47936792T>C | CA356824395 | CNGA1,NIPAL1 | c.1690A>G (p.Ile564Val) c.1702A>G (p.Ile568Val) c.1909A>G (p.Ile637Val) n.478+22088T>C n.563+22088T>C c.1927A>G (p.Ile643Val) | |
| 4 | g.47936792T>G | CA2911028 | CNGA1,NIPAL1 | c.1690A>C (p.Ile564Leu) c.1702A>C (p.Ile568Leu) c.1909A>C (p.Ile637Leu) n.478+22088T>G n.563+22088T>G c.1927A>C (p.Ile643Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.47936792T= | CA1455551709 | CNGA1,NIPAL1 | c.1690A= (p.Ile564=) c.1702A= (p.Ile568=) c.1909A= (p.Ile637=) n.478+22088T= n.563+22088T= c.1927A= (p.Ile643=) | |
| 4 | g.47936793A= | CA1455551710 | CNGA1,NIPAL1 | c.1689T= (p.Ser563=) c.1701T= (p.Ser567=) c.1908T= (p.Ser636=) n.478+22089A= n.563+22089A= c.1926T= (p.Ser642=) | |
| 4 | g.47936793A>C | CA356824399 | CNGA1,NIPAL1 | c.1689T>G (p.Ser563Arg) c.1701T>G (p.Ser567Arg) c.1908T>G (p.Ser636Arg) n.478+22089A>C n.563+22089A>C c.1926T>G (p.Ser642Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.47936793A>G | CA439404025 | CNGA1,NIPAL1 | c.1689T>C (p.Ser563=) c.1701T>C (p.Ser567=) c.1908T>C (p.Ser636=) n.478+22089A>G n.563+22089A>G c.1926T>C (p.Ser642=) | COSMIC |
| 4 | g.47936793A>T | CA356824402 | CNGA1,NIPAL1 | c.1689T>A (p.Ser563Arg) c.1701T>A (p.Ser567Arg) c.1908T>A (p.Ser636Arg) n.478+22089A>T n.563+22089A>T c.1926T>A (p.Ser642Arg) | |
| 4 | g.47936793_47936794delinsAC | CA1455551711 | CNGA1,NIPAL1 | c.1688_1689delinsGT (p.Ser563=) c.1700_1701delinsGT (p.Ser567=) c.1907_1908delinsGT (p.Ser636=) n.478+22089_478+22090delinsAC n.563+22089_563+22090delinsAC c.1925_1926delinsGT (p.Ser642=) | |
| 4 | g.47936794del | CA916082643 | CNGA1,NIPAL1 | c.1688del (p.Ser563IlefsTer19) c.1700del (p.Ser567IlefsTer19) c.1907del (p.Ser636IlefsTer19) n.478+22090del n.563+22090del c.1925del (p.Ser642IlefsTer19) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.47936794C>A | CA356824406 | CNGA1,NIPAL1 | c.1688G>T (p.Ser563Ile) c.1700G>T (p.Ser567Ile) c.1907G>T (p.Ser636Ile) n.478+22090C>A n.563+22090C>A c.1925G>T (p.Ser642Ile) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.47936794C= | CA1455551712 | CNGA1,NIPAL1 | c.1688G= (p.Ser563=) c.1700G= (p.Ser567=) c.1907G= (p.Ser636=) n.478+22090C= n.563+22090C= c.1925G= (p.Ser642=) | |
| 4 | g.47936794C>G | CA356824407 | CNGA1,NIPAL1 | c.1688G>C (p.Ser563Thr) c.1700G>C (p.Ser567Thr) c.1907G>C (p.Ser636Thr) n.478+22090C>G n.563+22090C>G c.1925G>C (p.Ser642Thr) | |
| 4 | g.47936794C>T | CA356824409 | CNGA1,NIPAL1 | c.1688G>A (p.Ser563Asn) c.1700G>A (p.Ser567Asn) c.1907G>A (p.Ser636Asn) n.478+22090C>T n.563+22090C>T c.1925G>A (p.Ser642Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.47936795T>A | CA356824412 | CNGA1,NIPAL1 | c.1687A>T (p.Ser563Cys) c.1699A>T (p.Ser567Cys) c.1906A>T (p.Ser636Cys) n.478+22091T>A n.563+22091T>A c.1924A>T (p.Ser642Cys) | |
| 4 | g.47936795T>C | CA2911029 | CNGA1,NIPAL1 | c.1687A>G (p.Ser563Gly) c.1699A>G (p.Ser567Gly) c.1906A>G (p.Ser636Gly) n.478+22091T>C n.563+22091T>C c.1924A>G (p.Ser642Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.47936795T>G | CA356824415 | CNGA1,NIPAL1 | c.1687A>C (p.Ser563Arg) c.1699A>C (p.Ser567Arg) c.1906A>C (p.Ser636Arg) n.478+22091T>G n.563+22091T>G c.1924A>C (p.Ser642Arg) | |
| 4 | g.47936795T= | CA1455551713 | CNGA1,NIPAL1 | c.1687A= (p.Ser563=) c.1699A= (p.Ser567=) c.1906A= (p.Ser636=) n.478+22091T= n.563+22091T= c.1924A= (p.Ser642=) | |
| 4 | g.47936798del | CA645531850 | CNGA1,NIPAL1 | c.1687del (p.Ser563ValfsTer19) c.1699del (p.Ser567ValfsTer19) c.1906del (p.Ser636ValfsTer19) n.478+22094del n.563+22094del c.1924del (p.Ser642ValfsTer19) | COSMIC COSMIC |
| 4 | g.47936796T>A | CA356824418 | CNGA1,NIPAL1 | c.1686A>T (p.Lys562Asn) c.1698A>T (p.Lys566Asn) c.1905A>T (p.Lys635Asn) n.478+22092T>A n.563+22092T>A c.1923A>T (p.Lys641Asn) | |
| 4 | g.47936796T>C | CA439404026 | CNGA1,NIPAL1 | c.1686A>G (p.Lys562=) c.1698A>G (p.Lys566=) c.1905A>G (p.Lys635=) n.478+22092T>C n.563+22092T>C c.1923A>G (p.Lys641=) | |
| 4 | g.47936796T>G | CA356824421 | CNGA1,NIPAL1 | c.1686A>C (p.Lys562Asn) c.1698A>C (p.Lys566Asn) c.1905A>C (p.Lys635Asn) n.478+22092T>G n.563+22092T>G c.1923A>C (p.Lys641Asn) | |
| 4 | g.47936797T>A | CA356824426 | CNGA1,NIPAL1 | c.1685A>T (p.Lys562Ile) c.1697A>T (p.Lys566Ile) c.1904A>T (p.Lys635Ile) n.478+22093T>A n.563+22093T>A c.1922A>T (p.Lys641Ile) | |
| 4 | g.47936797T>C | CA356824427 | CNGA1,NIPAL1 | c.1685A>G (p.Lys562Arg) c.1697A>G (p.Lys566Arg) c.1904A>G (p.Lys635Arg) n.478+22093T>C n.563+22093T>C c.1922A>G (p.Lys641Arg) | |
| 4 | g.47936797T>G | CA356824431 | CNGA1,NIPAL1 | c.1685A>C (p.Lys562Thr) c.1697A>C (p.Lys566Thr) c.1904A>C (p.Lys635Thr) n.478+22093T>G n.563+22093T>G c.1922A>C (p.Lys641Thr) | gnomAD v4 |
| 4 | g.47936798T>A | CA356824438 | CNGA1,NIPAL1 | c.1684A>T (p.Lys562Ter) c.1696A>T (p.Lys566Ter) c.1903A>T (p.Lys635Ter) n.478+22094T>A n.563+22094T>A c.1921A>T (p.Lys641Ter) | |
| 4 | g.47936798T>C | CA356824440 | CNGA1,NIPAL1 | c.1684A>G (p.Lys562Glu) c.1696A>G (p.Lys566Glu) c.1903A>G (p.Lys635Glu) n.478+22094T>C n.563+22094T>C c.1921A>G (p.Lys641Glu) | |
| 4 | g.47936798T>G | CA356824436 | CNGA1,NIPAL1 | c.1684A>C (p.Lys562Gln) c.1696A>C (p.Lys566Gln) c.1903A>C (p.Lys635Gln) n.478+22094T>G n.563+22094T>G c.1921A>C (p.Lys641Gln) | |
| 4 | g.47936799A>C | CA356824445 | CNGA1,NIPAL1 | c.1683T>G (p.Ile561Met) c.1695T>G (p.Ile565Met) c.1902T>G (p.Ile634Met) n.478+22095A>C n.563+22095A>C c.1920T>G (p.Ile640Met) | |
| 4 | g.47936799A>G | CA439404030 | CNGA1,NIPAL1 | c.1683T>C (p.Ile561=) c.1695T>C (p.Ile565=) c.1902T>C (p.Ile634=) n.478+22095A>G n.563+22095A>G c.1920T>C (p.Ile640=) | |
| 4 | g.47936799A>T | CA439404031 | CNGA1,NIPAL1 | c.1683T>A (p.Ile561=) c.1695T>A (p.Ile565=) c.1902T>A (p.Ile634=) n.478+22095A>T n.563+22095A>T c.1920T>A (p.Ile640=) | |
| 4 | g.47936800A= | CA1455551714 | CNGA1,NIPAL1 | c.1682T= (p.Ile561=) c.1694T= (p.Ile565=) c.1901T= (p.Ile634=) n.478+22096A= n.563+22096A= c.1919T= (p.Ile640=) | |
| 4 | g.47936800A>C | CA2911030 | CNGA1,NIPAL1 | c.1682T>G (p.Ile561Ser) c.1694T>G (p.Ile565Ser) c.1901T>G (p.Ile634Ser) n.478+22096A>C n.563+22096A>C c.1919T>G (p.Ile640Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.47936800A>G | CA356824451 | CNGA1,NIPAL1 | c.1682T>C (p.Ile561Thr) c.1694T>C (p.Ile565Thr) c.1901T>C (p.Ile634Thr) n.478+22096A>G n.563+22096A>G c.1919T>C (p.Ile640Thr) | |
| 4 | g.47936800A>T | CA356824454 | CNGA1,NIPAL1 | c.1682T>A (p.Ile561Asn) c.1694T>A (p.Ile565Asn) c.1901T>A (p.Ile634Asn) n.478+22096A>T n.563+22096A>T c.1919T>A (p.Ile640Asn) | |
| 4 | g.47936801T>A | CA356824457 | CNGA1,NIPAL1 | c.1681A>T (p.Ile561Phe) c.1693A>T (p.Ile565Phe) c.1900A>T (p.Ile634Phe) n.478+22097T>A n.563+22097T>A c.1918A>T (p.Ile640Phe) | |
| 4 | g.47936801T>C | CA356824459 | CNGA1,NIPAL1 | c.1681A>G (p.Ile561Val) c.1693A>G (p.Ile565Val) c.1900A>G (p.Ile634Val) n.478+22097T>C n.563+22097T>C c.1918A>G (p.Ile640Val) | gnomAD v4 |
| 4 | g.47936801T>G | CA356824461 | CNGA1,NIPAL1 | c.1681A>C (p.Ile561Leu) c.1693A>C (p.Ile565Leu) c.1900A>C (p.Ile634Leu) n.478+22097T>G n.563+22097T>G c.1918A>C (p.Ile640Leu) | |
| 4 | g.47936802A>C | CA356824464 | CNGA1,NIPAL1 | c.1680T>G (p.Asn560Lys) c.1692T>G (p.Asn564Lys) c.1899T>G (p.Asn633Lys) n.478+22098A>C n.563+22098A>C c.1917T>G (p.Asn639Lys) | |
| 4 | g.47936802A>G | CA439404035 | CNGA1,NIPAL1 | c.1680T>C (p.Asn560=) c.1692T>C (p.Asn564=) c.1899T>C (p.Asn633=) n.478+22098A>G n.563+22098A>G c.1917T>C (p.Asn639=) | |
| 4 | g.47936802A>T | CA356824467 | CNGA1,NIPAL1 | c.1680T>A (p.Asn560Lys) c.1692T>A (p.Asn564Lys) c.1899T>A (p.Asn633Lys) n.478+22098A>T n.563+22098A>T c.1917T>A (p.Asn639Lys) | |
| 4 | g.47936803T>A | CA356824471 | CNGA1,NIPAL1 | c.1679A>T (p.Asn560Ile) c.1691A>T (p.Asn564Ile) c.1898A>T (p.Asn633Ile) n.478+22099T>A n.563+22099T>A c.1916A>T (p.Asn639Ile) | |
| 4 | g.47936803T>C | CA356824474 | CNGA1,NIPAL1 | c.1679A>G (p.Asn560Ser) c.1691A>G (p.Asn564Ser) c.1898A>G (p.Asn633Ser) n.478+22099T>C n.563+22099T>C c.1916A>G (p.Asn639Ser) | |
| 4 | g.47936803T>G | CA356824476 | CNGA1,NIPAL1 | c.1679A>C (p.Asn560Thr) c.1691A>C (p.Asn564Thr) c.1898A>C (p.Asn633Thr) n.478+22099T>G n.563+22099T>G c.1916A>C (p.Asn639Thr) | |
| 4 | g.47936804T>A | CA356824481 | CNGA1,NIPAL1 | c.1678A>T (p.Asn560Tyr) c.1690A>T (p.Asn564Tyr) c.1897A>T (p.Asn633Tyr) n.478+22100T>A n.563+22100T>A c.1915A>T (p.Asn639Tyr) | |
| 4 | g.47936804T>C | CA356824484 | CNGA1,NIPAL1 | c.1678A>G (p.Asn560Asp) c.1690A>G (p.Asn564Asp) c.1897A>G (p.Asn633Asp) n.478+22100T>C n.563+22100T>C c.1915A>G (p.Asn639Asp) | |
| 4 | g.47936804T>G | CA356824479 | CNGA1,NIPAL1 | c.1678A>C (p.Asn560His) c.1690A>C (p.Asn564His) c.1897A>C (p.Asn633His) n.478+22100T>G n.563+22100T>G c.1915A>C (p.Asn639His) | |
| 4 | g.47936805G>A | CA439404037 | CNGA1,NIPAL1 | c.1677C>T (p.Ala559=) c.1689C>T (p.Ala563=) c.1896C>T (p.Ala632=) n.478+22101G>A n.563+22101G>A c.1914C>T (p.Ala638=) | |
| 4 | g.47936805G>C | CA439404038 | CNGA1,NIPAL1 | c.1677C>G (p.Ala559=) c.1689C>G (p.Ala563=) c.1896C>G (p.Ala632=) n.478+22101G>C n.563+22101G>C c.1914C>G (p.Ala638=) | |
| 4 | g.47936805G>T | CA439404040 | CNGA1,NIPAL1 | c.1677C>A (p.Ala559=) c.1689C>A (p.Ala563=) c.1896C>A (p.Ala632=) n.478+22101G>T n.563+22101G>T c.1914C>A (p.Ala638=) | |
| 4 | g.47936806G>A | CA356824488 | CNGA1,NIPAL1 | c.1676C>T (p.Ala559Val) c.1688C>T (p.Ala563Val) c.1895C>T (p.Ala632Val) n.478+22102G>A n.563+22102G>A c.1913C>T (p.Ala638Val) | |
| 4 | g.47936806G>C | CA356824491 | CNGA1,NIPAL1 | c.1676C>G (p.Ala559Gly) c.1688C>G (p.Ala563Gly) c.1895C>G (p.Ala632Gly) n.478+22102G>C n.563+22102G>C c.1913C>G (p.Ala638Gly) | |
| 4 | g.47936806G>T | CA356824494 | CNGA1,NIPAL1 | c.1676C>A (p.Ala559Asp) c.1688C>A (p.Ala563Asp) c.1895C>A (p.Ala632Asp) n.478+22102G>T n.563+22102G>T c.1913C>A (p.Ala638Asp) | |
| 4 | g.47936807C>A | CA356824496 | CNGA1,NIPAL1 | c.1675G>T (p.Ala559Ser) c.1687G>T (p.Ala563Ser) c.1894G>T (p.Ala632Ser) n.478+22103C>A n.563+22103C>A c.1912G>T (p.Ala638Ser) | dbSNP |
| 4 | g.47936807C= | CA1455551715 | CNGA1,NIPAL1 | c.1675G= (p.Ala559=) c.1687G= (p.Ala563=) c.1894G= (p.Ala632=) n.478+22103C= n.563+22103C= c.1912G= (p.Ala638=) | |
| 4 | g.47936807C>G | CA356824499 | CNGA1,NIPAL1 | c.1675G>C (p.Ala559Pro) c.1687G>C (p.Ala563Pro) c.1894G>C (p.Ala632Pro) n.478+22103C>G n.563+22103C>G c.1912G>C (p.Ala638Pro) | |
| 4 | g.47936807C>T | CA356824503 | CNGA1,NIPAL1 | c.1675G>A (p.Ala559Thr) c.1687G>A (p.Ala563Thr) c.1894G>A (p.Ala632Thr) n.478+22103C>T n.563+22103C>T c.1912G>A (p.Ala638Thr) | gnomAD v4 |
| 4 | g.47936808C>A | CA439404045 | CNGA1,NIPAL1 | c.1674G>T (p.Thr558=) c.1686G>T (p.Thr562=) c.1893G>T (p.Thr631=) n.478+22104C>A n.563+22104C>A c.1911G>T (p.Thr637=) | |
| 4 | g.47936808C= | CA1455551716 | CNGA1,NIPAL1 | c.1674G= (p.Thr558=) c.1686G= (p.Thr562=) c.1893G= (p.Thr631=) n.478+22104C= n.563+22104C= c.1911G= (p.Thr637=) | |
| 4 | g.47936808C>G | CA439404046 | CNGA1,NIPAL1 | c.1674G>C (p.Thr558=) c.1686G>C (p.Thr562=) c.1893G>C (p.Thr631=) n.478+22104C>G n.563+22104C>G c.1911G>C (p.Thr637=) | |
| 4 | g.47936808C>T | CA439404047 | CNGA1,NIPAL1 | c.1674G>A (p.Thr558=) c.1686G>A (p.Thr562=) c.1893G>A (p.Thr631=) n.478+22104C>T n.563+22104C>T c.1911G>A (p.Thr637=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.47936809G>A | CA2911031 | CNGA1,NIPAL1 | c.1673C>T (p.Thr558Met) c.1685C>T (p.Thr562Met) c.1892C>T (p.Thr631Met) n.478+22105G>A n.563+22105G>A c.1910C>T (p.Thr637Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.47936809G>C | CA356824506 | CNGA1,NIPAL1 | c.1673C>G (p.Thr558Arg) c.1685C>G (p.Thr562Arg) c.1892C>G (p.Thr631Arg) n.478+22105G>C n.563+22105G>C c.1910C>G (p.Thr637Arg) | |
| 4 | g.47936809G= | CA1455551717 | CNGA1,NIPAL1 | c.1673C= (p.Thr558=) c.1685C= (p.Thr562=) c.1892C= (p.Thr631=) n.478+22105G= n.563+22105G= c.1910C= (p.Thr637=) | |
| 4 | g.47936809G>T | CA356824509 | CNGA1,NIPAL1 | c.1673C>A (p.Thr558Lys) c.1685C>A (p.Thr562Lys) c.1892C>A (p.Thr631Lys) n.478+22105G>T n.563+22105G>T c.1910C>A (p.Thr637Lys) | COSMIC |
| 4 | g.47936810T>A | CA356824515 | CNGA1,NIPAL1 | c.1672A>T (p.Thr558Ser) c.1684A>T (p.Thr562Ser) c.1891A>T (p.Thr631Ser) n.478+22106T>A n.563+22106T>A c.1909A>T (p.Thr637Ser) | |
| 4 | g.47936810T>C | CA356824518 | CNGA1,NIPAL1 | c.1672A>G (p.Thr558Ala) c.1684A>G (p.Thr562Ala) c.1891A>G (p.Thr631Ala) n.478+22106T>C n.563+22106T>C c.1909A>G (p.Thr637Ala) | |
| 4 | g.47936810T>G | CA356824520 | CNGA1,NIPAL1 | c.1672A>C (p.Thr558Pro) c.1684A>C (p.Thr562Pro) c.1891A>C (p.Thr631Pro) n.478+22106T>G n.563+22106T>G c.1909A>C (p.Thr637Pro) | dbSNP |
| 4 | g.47936810T= | CA1455551718 | CNGA1,NIPAL1 | c.1672A= (p.Thr558=) c.1684A= (p.Thr562=) c.1891A= (p.Thr631=) n.478+22106T= n.563+22106T= c.1909A= (p.Thr637=) | |
| 4 | g.47936811T>A | CA356824525 | CNGA1,NIPAL1 | c.1671A>T (p.Arg557Ser) c.1683A>T (p.Arg561Ser) c.1890A>T (p.Arg630Ser) n.478+22107T>A n.563+22107T>A c.1908A>T (p.Arg636Ser) | |
| 4 | g.47936811T>C | CA439404049 | CNGA1,NIPAL1 | c.1671A>G (p.Arg557=) c.1683A>G (p.Arg561=) c.1890A>G (p.Arg630=) n.478+22107T>C n.563+22107T>C c.1908A>G (p.Arg636=) | gnomAD v4 |
| 4 | g.47936811T>G | CA356824527 | CNGA1,NIPAL1 | c.1671A>C (p.Arg557Ser) c.1683A>C (p.Arg561Ser) c.1890A>C (p.Arg630Ser) n.478+22107T>G n.563+22107T>G c.1908A>C (p.Arg636Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.47936811T= | CA1455551719 | CNGA1,NIPAL1 | c.1671A= (p.Arg557=) c.1683A= (p.Arg561=) c.1890A= (p.Arg630=) n.478+22107T= n.563+22107T= c.1908A= (p.Arg636=) | |
| 4 | g.47936812C>A | CA356824535 | CNGA1,NIPAL1 | c.1670G>T (p.Arg557Ile) c.1682G>T (p.Arg561Ile) c.1889G>T (p.Arg630Ile) n.478+22108C>A n.563+22108C>A c.1907G>T (p.Arg636Ile) | |
| 4 | g.47936812C>G | CA356824533 | CNGA1,NIPAL1 | c.1670G>C (p.Arg557Thr) c.1682G>C (p.Arg561Thr) c.1889G>C (p.Arg630Thr) n.478+22108C>G n.563+22108C>G c.1907G>C (p.Arg636Thr) | |
| 4 | g.47936812C>T | CA356824531 | CNGA1,NIPAL1 | c.1670G>A (p.Arg557Lys) c.1682G>A (p.Arg561Lys) c.1889G>A (p.Arg630Lys) n.478+22108C>T n.563+22108C>T c.1907G>A (p.Arg636Lys) | |
| 4 | g.47936813T>A | CA356824540 | CNGA1,NIPAL1 | c.1669A>T (p.Arg557Ter) c.1681A>T (p.Arg561Ter) c.1888A>T (p.Arg630Ter) n.478+22109T>A n.563+22109T>A c.1906A>T (p.Arg636Ter) | |
| 4 | g.47936813T>C | CA356824541 | CNGA1,NIPAL1 | c.1669A>G (p.Arg557Gly) c.1681A>G (p.Arg561Gly) c.1888A>G (p.Arg630Gly) n.478+22109T>C n.563+22109T>C c.1906A>G (p.Arg636Gly) | |
| 4 | g.47936813T>G | CA439404051 | CNGA1,NIPAL1 | c.1669A>C (p.Arg557=) c.1681A>C (p.Arg561=) c.1888A>C (p.Arg630=) n.478+22109T>G n.563+22109T>G c.1906A>C (p.Arg636=) | gnomAD v4 |
| 4 | g.47936814T>A | CA439404052 | CNGA1,NIPAL1 | c.1668A>T (p.Arg556=) c.1680A>T (p.Arg560=) c.1887A>T (p.Arg629=) n.478+22110T>A n.563+22110T>A c.1905A>T (p.Arg635=) | |
| 4 | g.47936814T>C | CA439404054 | CNGA1,NIPAL1 | c.1668A>G (p.Arg556=) c.1680A>G (p.Arg560=) c.1887A>G (p.Arg629=) n.478+22110T>C n.563+22110T>C c.1905A>G (p.Arg635=) | |
| 4 | g.47936814T>G | CA439404053 | CNGA1,NIPAL1 | c.1668A>C (p.Arg556=) c.1680A>C (p.Arg560=) c.1887A>C (p.Arg629=) n.478+22110T>G n.563+22110T>G c.1905A>C (p.Arg635=) | |
| 4 | g.47936815C>A | CA356824544 | CNGA1,NIPAL1 | c.1667G>T (p.Arg556Leu) c.1679G>T (p.Arg560Leu) c.1886G>T (p.Arg629Leu) n.478+22111C>A n.563+22111C>A c.1904G>T (p.Arg635Leu) | |
| 4 | g.47936815C= | CA1455551720 | CNGA1,NIPAL1 | c.1667G= (p.Arg556=) c.1679G= (p.Arg560=) c.1886G= (p.Arg629=) n.478+22111C= n.563+22111C= c.1904G= (p.Arg635=) | |
| 4 | g.47936815C>G | CA356824547 | CNGA1,NIPAL1 | c.1667G>C (p.Arg556Pro) c.1679G>C (p.Arg560Pro) c.1886G>C (p.Arg629Pro) n.478+22111C>G n.563+22111C>G c.1904G>C (p.Arg635Pro) | |
| 4 | g.47936815C>T | CA96688276 | CNGA1,NIPAL1 | c.1667G>A (p.Arg556Gln) c.1679G>A (p.Arg560Gln) c.1886G>A (p.Arg629Gln) n.478+22111C>T n.563+22111C>T c.1904G>A (p.Arg635Gln) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 4 | g.47936816G>A | CA2911032 | CNGA1,NIPAL1 | c.1666C>T (p.Arg556Ter) c.1678C>T (p.Arg560Ter) c.1885C>T (p.Arg629Ter) n.478+22112G>A n.563+22112G>A c.1903C>T (p.Arg635Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 4 | g.47936816G>C | CA356824554 | CNGA1,NIPAL1 | c.1666C>G (p.Arg556Gly) c.1678C>G (p.Arg560Gly) c.1885C>G (p.Arg629Gly) n.478+22112G>C n.563+22112G>C c.1903C>G (p.Arg635Gly) | gnomAD v4 |
| 4 | g.47936816G= | CA1455551721 | CNGA1,NIPAL1 | c.1666C= (p.Arg556=) c.1678C= (p.Arg560=) c.1885C= (p.Arg629=) n.478+22112G= n.563+22112G= c.1903C= (p.Arg635=) | |
| 4 | g.47936816G>T | CA2911033 | CNGA1,NIPAL1 | c.1666C>A (p.Arg556=) c.1678C>A (p.Arg560=) c.1885C>A (p.Arg629=) n.478+22112G>T n.563+22112G>T c.1903C>A (p.Arg635=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.47936817A>C | CA356824561 | CNGA1,NIPAL1 | c.1665T>G (p.Asn555Lys) c.1677T>G (p.Asn559Lys) c.1884T>G (p.Asn628Lys) n.478+22113A>C n.563+22113A>C c.1902T>G (p.Asn634Lys) | |
| 4 | g.47936817A>G | CA439404058 | CNGA1,NIPAL1 | c.1665T>C (p.Asn555=) c.1677T>C (p.Asn559=) c.1884T>C (p.Asn628=) n.478+22113A>G n.563+22113A>G c.1902T>C (p.Asn634=) | |
| 4 | g.47936817A>T | CA356824560 | CNGA1,NIPAL1 | c.1665T>A (p.Asn555Lys) c.1677T>A (p.Asn559Lys) c.1884T>A (p.Asn628Lys) n.478+22113A>T n.563+22113A>T c.1902T>A (p.Asn634Lys) | |
| 4 | g.47936818T>A | CA356824565 | CNGA1,NIPAL1 | c.1664A>T (p.Asn555Ile) c.1676A>T (p.Asn559Ile) c.1883A>T (p.Asn628Ile) n.478+22114T>A n.563+22114T>A c.1901A>T (p.Asn634Ile) | |
| 4 | g.47936818T>C | CA2911034 | CNGA1,NIPAL1 | c.1664A>G (p.Asn555Ser) c.1676A>G (p.Asn559Ser) c.1883A>G (p.Asn628Ser) n.478+22114T>C n.563+22114T>C c.1901A>G (p.Asn634Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.47936818T>G | CA356824569 | CNGA1,NIPAL1 | c.1664A>C (p.Asn555Thr) c.1676A>C (p.Asn559Thr) c.1883A>C (p.Asn628Thr) n.478+22114T>G n.563+22114T>G c.1901A>C (p.Asn634Thr) | |
| 4 | g.47936818T= | CA1455551722 | CNGA1,NIPAL1 | c.1664A= (p.Asn555=) c.1676A= (p.Asn559=) c.1883A= (p.Asn628=) n.478+22114T= n.563+22114T= c.1901A= (p.Asn634=) | |
| 4 | g.47936819T>A | CA356824574 | CNGA1,NIPAL1 | c.1663A>T (p.Asn555Tyr) c.1675A>T (p.Asn559Tyr) c.1882A>T (p.Asn628Tyr) n.478+22115T>A n.563+22115T>A c.1900A>T (p.Asn634Tyr) | |
| 4 | g.47936819T>C | CA356824577 | CNGA1,NIPAL1 | c.1663A>G (p.Asn555Asp) c.1675A>G (p.Asn559Asp) c.1882A>G (p.Asn628Asp) n.478+22115T>C n.563+22115T>C c.1900A>G (p.Asn634Asp) | |
| 4 | g.47936819T>G | CA356824580 | CNGA1,NIPAL1 | c.1663A>C (p.Asn555His) c.1675A>C (p.Asn559His) c.1882A>C (p.Asn628His) n.478+22115T>G n.563+22115T>G c.1900A>C (p.Asn634His) | |
| 4 | g.47936820G>A | CA439404060 | CNGA1,NIPAL1 | c.1662C>T (p.Gly554=) c.1674C>T (p.Gly558=) c.1881C>T (p.Gly627=) n.478+22116G>A n.563+22116G>A c.1899C>T (p.Gly633=) | gnomAD v4 |
| 4 | g.47936820G>C | CA439404061 | CNGA1,NIPAL1 | c.1662C>G (p.Gly554=) c.1674C>G (p.Gly558=) c.1881C>G (p.Gly627=) n.478+22116G>C n.563+22116G>C c.1899C>G (p.Gly633=) | |
| 4 | g.47936820G>T | CA439404062 | CNGA1,NIPAL1 | c.1662C>A (p.Gly554=) c.1674C>A (p.Gly558=) c.1881C>A (p.Gly627=) n.478+22116G>T n.563+22116G>T c.1899C>A (p.Gly633=) | |
| 4 | g.47936821C>A | CA356824585 | CNGA1,NIPAL1 | c.1661G>T (p.Gly554Val) c.1673G>T (p.Gly558Val) c.1880G>T (p.Gly627Val) n.478+22117C>A n.563+22117C>A c.1898G>T (p.Gly633Val) | |
| 4 | g.47936821C= | CA1455551723 | CNGA1,NIPAL1 | c.1661G= (p.Gly554=) c.1673G= (p.Gly558=) c.1880G= (p.Gly627=) n.478+22117C= n.563+22117C= c.1898G= (p.Gly633=) | |
| 4 | g.47936821C>G | CA356824589 | CNGA1,NIPAL1 | c.1661G>C (p.Gly554Ala) c.1673G>C (p.Gly558Ala) c.1880G>C (p.Gly627Ala) n.478+22117C>G n.563+22117C>G c.1898G>C (p.Gly633Ala) | |
| 4 | g.47936821C>T | CA356824587 | CNGA1,NIPAL1 | c.1661G>A (p.Gly554Asp) c.1673G>A (p.Gly558Asp) c.1880G>A (p.Gly627Asp) n.478+22117C>T n.563+22117C>T c.1898G>A (p.Gly633Asp) | dbSNP gnomAD v4 |
| 4 | g.47936822C>A | CA356824594 | CNGA1,NIPAL1 | c.1660G>T (p.Gly554Cys) c.1672G>T (p.Gly558Cys) c.1879G>T (p.Gly627Cys) n.478+22118C>A n.563+22118C>A c.1897G>T (p.Gly633Cys) | |
| 4 | g.47936822C>G | CA356824596 | CNGA1,NIPAL1 | c.1660G>C (p.Gly554Arg) c.1672G>C (p.Gly558Arg) c.1879G>C (p.Gly627Arg) n.478+22118C>G n.563+22118C>G c.1897G>C (p.Gly633Arg) | |
| 4 | g.47936822C>T | CA356824598 | CNGA1,NIPAL1 | c.1660G>A (p.Gly554Ser) c.1672G>A (p.Gly558Ser) c.1879G>A (p.Gly627Ser) n.478+22118C>T n.563+22118C>T c.1897G>A (p.Gly633Ser) | gnomAD v4 |
| 4 | g.47936823A>C | CA439404071 | CNGA1,NIPAL1 | c.1659T>G (p.Ala553=) c.1671T>G (p.Ala557=) c.1878T>G (p.Ala626=) n.478+22119A>C n.563+22119A>C c.1896T>G (p.Ala632=) | |
| 4 | g.47936823A>G | CA439404072 | CNGA1,NIPAL1 | c.1659T>C (p.Ala553=) c.1671T>C (p.Ala557=) c.1878T>C (p.Ala626=) n.478+22119A>G n.563+22119A>G c.1896T>C (p.Ala632=) | |
| 4 | g.47936823A>T | CA439404070 | CNGA1,NIPAL1 | c.1659T>A (p.Ala553=) c.1671T>A (p.Ala557=) c.1878T>A (p.Ala626=) n.478+22119A>T n.563+22119A>T c.1896T>A (p.Ala632=) | |
| 4 | g.47936824G>A | CA356824605 | CNGA1,NIPAL1 | c.1658C>T (p.Ala553Val) c.1670C>T (p.Ala557Val) c.1877C>T (p.Ala626Val) n.478+22120G>A n.563+22120G>A c.1895C>T (p.Ala632Val) | gnomAD v4 |
| 4 | g.47936824G>C | CA356824607 | CNGA1,NIPAL1 | c.1658C>G (p.Ala553Gly) c.1670C>G (p.Ala557Gly) c.1877C>G (p.Ala626Gly) n.478+22120G>C n.563+22120G>C c.1895C>G (p.Ala632Gly) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.47936824G= | CA1455551724 | CNGA1,NIPAL1 | c.1658C= (p.Ala553=) c.1670C= (p.Ala557=) c.1877C= (p.Ala626=) n.478+22120G= n.563+22120G= c.1895C= (p.Ala632=) | |
| 4 | g.47936824G>T | CA356824609 | CNGA1,NIPAL1 | c.1658C>A (p.Ala553Asp) c.1670C>A (p.Ala557Asp) c.1877C>A (p.Ala626Asp) n.478+22120G>T n.563+22120G>T c.1895C>A (p.Ala632Asp) | |
| 4 | g.47936825C>A | CA356824613 | CNGA1,NIPAL1 | c.1657G>T (p.Ala553Ser) c.1669G>T (p.Ala557Ser) c.1876G>T (p.Ala626Ser) n.478+22121C>A n.563+22121C>A c.1894G>T (p.Ala632Ser) | COSMIC COSMIC |
| 4 | g.47936825C>G | CA356824615 | CNGA1,NIPAL1 | c.1657G>C (p.Ala553Pro) c.1669G>C (p.Ala557Pro) c.1876G>C (p.Ala626Pro) n.478+22121C>G n.563+22121C>G c.1894G>C (p.Ala632Pro) | |
| 4 | g.47936825C>T | CA356824618 | CNGA1,NIPAL1 | c.1657G>A (p.Ala553Thr) c.1669G>A (p.Ala557Thr) c.1876G>A (p.Ala626Thr) n.478+22121C>T n.563+22121C>T c.1894G>A (p.Ala632Thr) | |
| 4 | g.47936826T>A | CA356824623 | CNGA1,NIPAL1 | c.1656A>T (p.Lys552Asn) c.1668A>T (p.Lys556Asn) c.1875A>T (p.Lys625Asn) n.478+22122T>A n.563+22122T>A c.1893A>T (p.Lys631Asn) | |
| 4 | g.47936826T>C | CA439404075 | CNGA1,NIPAL1 | c.1656A>G (p.Lys552=) c.1668A>G (p.Lys556=) c.1875A>G (p.Lys625=) n.478+22122T>C n.563+22122T>C c.1893A>G (p.Lys631=) | |
| 4 | g.47936826T>G | CA356824625 | CNGA1,NIPAL1 | c.1656A>C (p.Lys552Asn) c.1668A>C (p.Lys556Asn) c.1875A>C (p.Lys625Asn) n.478+22122T>G n.563+22122T>G c.1893A>C (p.Lys631Asn) | gnomAD v4 |
| 4 | g.47936827T>A | CA356824636 | CNGA1,NIPAL1 | c.1655A>T (p.Lys552Ile) c.1667A>T (p.Lys556Ile) c.1874A>T (p.Lys625Ile) n.478+22123T>A n.563+22123T>A c.1892A>T (p.Lys631Ile) | |
| 4 | g.47936827T>C | CA356824633 | CNGA1,NIPAL1 | c.1655A>G (p.Lys552Arg) c.1667A>G (p.Lys556Arg) c.1874A>G (p.Lys625Arg) n.478+22123T>C n.563+22123T>C c.1892A>G (p.Lys631Arg) | |
| 4 | g.47936827T>G | CA356824630 | CNGA1,NIPAL1 | c.1655A>C (p.Lys552Thr) c.1667A>C (p.Lys556Thr) c.1874A>C (p.Lys625Thr) n.478+22123T>G n.563+22123T>G c.1892A>C (p.Lys631Thr) | |
| 4 | g.47936828T>A | CA356824640 | CNGA1,NIPAL1 | c.1654A>T (p.Lys552Ter) c.1666A>T (p.Lys556Ter) c.1873A>T (p.Lys625Ter) n.478+22124T>A n.563+22124T>A c.1891A>T (p.Lys631Ter) | |
| 4 | g.47936828T>C | CA356824642 | CNGA1,NIPAL1 | c.1654A>G (p.Lys552Glu) c.1666A>G (p.Lys556Glu) c.1873A>G (p.Lys625Glu) n.478+22124T>C n.563+22124T>C c.1891A>G (p.Lys631Glu) | |
| 4 | g.47936828T>G | CA356824644 | CNGA1,NIPAL1 | c.1654A>C (p.Lys552Gln) c.1666A>C (p.Lys556Gln) c.1873A>C (p.Lys625Gln) n.478+22124T>G n.563+22124T>G c.1891A>C (p.Lys631Gln) | |
| 4 | g.47936829G>A | CA439404083 | CNGA1,NIPAL1 | c.1653C>T (p.Ser551=) c.1665C>T (p.Ser555=) c.1872C>T (p.Ser624=) n.478+22125G>A n.563+22125G>A c.1890C>T (p.Ser630=) | |
| 4 | g.47936829G>C | CA356824648 | CNGA1,NIPAL1 | c.1653C>G (p.Ser551Arg) c.1665C>G (p.Ser555Arg) c.1872C>G (p.Ser624Arg) n.478+22125G>C n.563+22125G>C c.1890C>G (p.Ser630Arg) | |
| 4 | g.47936829G>T | CA356824651 | CNGA1,NIPAL1 | c.1653C>A (p.Ser551Arg) c.1665C>A (p.Ser555Arg) c.1872C>A (p.Ser624Arg) n.478+22125G>T n.563+22125G>T c.1890C>A (p.Ser630Arg) | |
| 4 | g.47936830C>A | CA356824661 | CNGA1,NIPAL1 | c.1652G>T (p.Ser551Ile) c.1664G>T (p.Ser555Ile) c.1871G>T (p.Ser624Ile) n.478+22126C>A n.563+22126C>A c.1889G>T (p.Ser630Ile) | |
| 4 | g.47936830C= | CA1455551725 | CNGA1,NIPAL1 | c.1652G= (p.Ser551=) c.1664G= (p.Ser555=) c.1871G= (p.Ser624=) n.478+22126C= n.563+22126C= c.1889G= (p.Ser630=) | |
| 4 | g.47936830C>G | CA2911035 | CNGA1,NIPAL1 | c.1652G>C (p.Ser551Thr) c.1664G>C (p.Ser555Thr) c.1871G>C (p.Ser624Thr) n.478+22126C>G n.563+22126C>G c.1889G>C (p.Ser630Thr) | dbSNP ExAC gnomAD v2 |
| 4 | g.47936830C>T | CA356824656 | CNGA1,NIPAL1 | c.1652G>A (p.Ser551Asn) c.1664G>A (p.Ser555Asn) c.1871G>A (p.Ser624Asn) n.478+22126C>T n.563+22126C>T c.1889G>A (p.Ser630Asn) | gnomAD v4 |
| 4 | g.47936831T>A | CA356824667 | CNGA1,NIPAL1 | c.1651A>T (p.Ser551Cys) c.1663A>T (p.Ser555Cys) c.1870A>T (p.Ser624Cys) n.478+22127T>A n.563+22127T>A c.1888A>T (p.Ser630Cys) | |
| 4 | g.47936831T>C | CA2911036 | CNGA1,NIPAL1 | c.1651A>G (p.Ser551Gly) c.1663A>G (p.Ser555Gly) c.1870A>G (p.Ser624Gly) n.478+22127T>C n.563+22127T>C c.1888A>G (p.Ser630Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.47936831T>G | CA356824671 | CNGA1,NIPAL1 | c.1651A>C (p.Ser551Arg) c.1663A>C (p.Ser555Arg) c.1870A>C (p.Ser624Arg) n.478+22127T>G n.563+22127T>G c.1888A>C (p.Ser630Arg) | |
| 4 | g.47936831T= | CA1455551726 | CNGA1,NIPAL1 | c.1651A= (p.Ser551=) c.1663A= (p.Ser555=) c.1870A= (p.Ser624=) n.478+22127T= n.563+22127T= c.1888A= (p.Ser630=) | |
| 4 | g.47936832C>A | CA439404086 | CNGA1,NIPAL1 | c.1650G>T (p.Gly550=) c.1662G>T (p.Gly554=) c.1869G>T (p.Gly623=) n.478+22128C>A n.563+22128C>A c.1887G>T (p.Gly629=) | |
| 4 | g.47936832C>G | CA439404087 | CNGA1,NIPAL1 | c.1650G>C (p.Gly550=) c.1662G>C (p.Gly554=) c.1869G>C (p.Gly623=) n.478+22128C>G n.563+22128C>G c.1887G>C (p.Gly629=) | |
| 4 | g.47936832C>T | CA439404088 | CNGA1,NIPAL1 | c.1650G>A (p.Gly550=) c.1662G>A (p.Gly554=) c.1869G>A (p.Gly623=) n.478+22128C>T n.563+22128C>T c.1887G>A (p.Gly629=) | |
| 4 | g.47936833C>A | CA356824674 | CNGA1,NIPAL1 | c.1649G>T (p.Gly550Val) c.1661G>T (p.Gly554Val) c.1868G>T (p.Gly623Val) n.478+22129C>A n.563+22129C>A c.1886G>T (p.Gly629Val) | dbSNP |
| 4 | g.47936833C= | CA1455551727 | CNGA1,NIPAL1 | c.1649G= (p.Gly550=) c.1661G= (p.Gly554=) c.1868G= (p.Gly623=) n.478+22129C= n.563+22129C= c.1886G= (p.Gly629=) | |
| 4 | g.47936833C>G | CA356824677 | CNGA1,NIPAL1 | c.1649G>C (p.Gly550Ala) c.1661G>C (p.Gly554Ala) c.1868G>C (p.Gly623Ala) n.478+22129C>G n.563+22129C>G c.1886G>C (p.Gly629Ala) | |
| 4 | g.47936833C>T | CA356824680 | CNGA1,NIPAL1 | c.1649G>A (p.Gly550Glu) c.1661G>A (p.Gly554Glu) c.1868G>A (p.Gly623Glu) n.478+22129C>T n.563+22129C>T c.1886G>A (p.Gly629Glu) | gnomAD v4 |
| 4 | g.47936834C>A | CA356824684 | CNGA1,NIPAL1 | c.1648G>T (p.Gly550Trp) c.1660G>T (p.Gly554Trp) c.1867G>T (p.Gly623Trp) n.478+22130C>A n.563+22130C>A c.1885G>T (p.Gly629Trp) | |
| 4 | g.47936834C= | CA1455551728 | CNGA1,NIPAL1 | c.1648G= (p.Gly550=) c.1660G= (p.Gly554=) c.1867G= (p.Gly623=) n.478+22130C= n.563+22130C= c.1885G= (p.Gly629=) | |
| 4 | g.47936834C>G | CA356824689 | CNGA1,NIPAL1 | c.1648G>C (p.Gly550Arg) c.1660G>C (p.Gly554Arg) c.1867G>C (p.Gly623Arg) n.478+22130C>G n.563+22130C>G c.1885G>C (p.Gly629Arg) | |
| 4 | g.47936834C>T | CA356824686 | CNGA1,NIPAL1 | c.1648G>A (p.Gly550Arg) c.1660G>A (p.Gly554Arg) c.1867G>A (p.Gly623Arg) n.478+22130C>T n.563+22130C>T c.1885G>A (p.Gly629Arg) | ClinVar dbSNP gnomAD v4 |