Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
4 | g.47936521C>A | CA356823084 | CNGA1,NIPAL1 | c.1961G>T (p.Arg654Ile) c.1973G>T (p.Arg658Ile) c.2180G>T (p.Arg727Ile) n.478+21817C>A n.563+21817C>A c.2198G>T (p.Arg733Ile) | COSMIC |
4 | g.47936521C= | CA1455551609 | CNGA1,NIPAL1 | c.1961G= (p.Arg654=) c.1973G= (p.Arg658=) c.2180G= (p.Arg727=) n.478+21817C= n.563+21817C= c.2198G= (p.Arg733=) | |
4 | g.47936521C>G | CA2910985 | CNGA1,NIPAL1 | c.1961G>C (p.Arg654Thr) c.1973G>C (p.Arg658Thr) c.2180G>C (p.Arg727Thr) n.478+21817C>G n.563+21817C>G c.2198G>C (p.Arg733Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.47936521C>T | CA356823085 | CNGA1,NIPAL1 | c.1961G>A (p.Arg654Lys) c.1973G>A (p.Arg658Lys) c.2180G>A (p.Arg727Lys) n.478+21817C>T n.563+21817C>T c.2198G>A (p.Arg733Lys) | |
4 | g.47936522T>A | CA356823086 | CNGA1,NIPAL1 | c.1960A>T (p.Arg654Ter) c.1972A>T (p.Arg658Ter) c.2179A>T (p.Arg727Ter) n.478+21818T>A n.563+21818T>A c.2197A>T (p.Arg733Ter) | |
4 | g.47936522T>C | CA356823087 | CNGA1,NIPAL1 | c.1960A>G (p.Arg654Gly) c.1972A>G (p.Arg658Gly) c.2179A>G (p.Arg727Gly) n.478+21818T>C n.563+21818T>C c.2197A>G (p.Arg733Gly) | gnomAD v4 |
4 | g.47936522T>G | CA439248119 | CNGA1,NIPAL1 | c.1960A>C (p.Arg654=) c.1972A>C (p.Arg658=) c.2179A>C (p.Arg727=) n.478+21818T>G n.563+21818T>G c.2197A>C (p.Arg733=) | |
4 | g.47936524del | CA2573320676 | CNGA1,NIPAL1 | c.1960del (p.Arg654AspfsTer2) c.1972del (p.Arg658AspfsTer2) c.2179del (p.Arg727AspfsTer2) n.478+21820del n.563+21820del c.2197del (p.Arg733AspfsTer2) | ClinVar |
4 | g.47936523T>A | CA356823088 | CNGA1,NIPAL1 | c.1959A>T (p.Gln653His) c.1971A>T (p.Gln657His) c.2178A>T (p.Gln726His) n.478+21819T>A n.563+21819T>A c.2196A>T (p.Gln732His) | |
4 | g.47936523T>C | CA439248120 | CNGA1,NIPAL1 | c.1959A>G (p.Gln653=) c.1971A>G (p.Gln657=) c.2178A>G (p.Gln726=) n.478+21819T>C n.563+21819T>C c.2196A>G (p.Gln732=) | gnomAD v4 |
4 | g.47936523T>G | CA356823089 | CNGA1,NIPAL1 | c.1959A>C (p.Gln653His) c.1971A>C (p.Gln657His) c.2178A>C (p.Gln726His) n.478+21819T>G n.563+21819T>G c.2196A>C (p.Gln732His) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.47936523T= | CA1455551610 | CNGA1,NIPAL1 | c.1959A= (p.Gln653=) c.1971A= (p.Gln657=) c.2178A= (p.Gln726=) n.478+21819T= n.563+21819T= c.2196A= (p.Gln732=) | |
4 | g.47936524T>A | CA356823090 | CNGA1,NIPAL1 | c.1958A>T (p.Gln653Leu) c.1970A>T (p.Gln657Leu) c.2177A>T (p.Gln726Leu) n.478+21820T>A n.563+21820T>A c.2195A>T (p.Gln732Leu) | |
4 | g.47936524T>C | CA356823091 | CNGA1,NIPAL1 | c.1958A>G (p.Gln653Arg) c.1970A>G (p.Gln657Arg) c.2177A>G (p.Gln726Arg) n.478+21820T>C n.563+21820T>C c.2195A>G (p.Gln732Arg) | |
4 | g.47936524T>G | CA356823092 | CNGA1,NIPAL1 | c.1958A>C (p.Gln653Pro) c.1970A>C (p.Gln657Pro) c.2177A>C (p.Gln726Pro) n.478+21820T>G n.563+21820T>G c.2195A>C (p.Gln732Pro) | |
4 | g.47936525G>A | CA2910986 | CNGA1,NIPAL1 | c.1957C>T (p.Gln653Ter) c.1969C>T (p.Gln657Ter) c.2176C>T (p.Gln726Ter) n.478+21821G>A n.563+21821G>A c.2194C>T (p.Gln732Ter) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.47936525G>C | CA356823093 | CNGA1,NIPAL1 | c.1957C>G (p.Gln653Glu) c.1969C>G (p.Gln657Glu) c.2176C>G (p.Gln726Glu) n.478+21821G>C n.563+21821G>C c.2194C>G (p.Gln732Glu) | |
4 | g.47936525G= | CA1455551611 | CNGA1,NIPAL1 | c.1957C= (p.Gln653=) c.1969C= (p.Gln657=) c.2176C= (p.Gln726=) n.478+21821G= n.563+21821G= c.2194C= (p.Gln732=) | |
4 | g.47936525G>T | CA356823094 | CNGA1,NIPAL1 | c.1957C>A (p.Gln653Lys) c.1969C>A (p.Gln657Lys) c.2176C>A (p.Gln726Lys) n.478+21821G>T n.563+21821G>T c.2194C>A (p.Gln732Lys) | |
4 | g.47936526T>A | CA356823095 | CNGA1,NIPAL1 | c.1956A>T (p.Lys652Asn) c.1968A>T (p.Lys656Asn) c.2175A>T (p.Lys725Asn) n.478+21822T>A n.563+21822T>A c.2193A>T (p.Lys731Asn) | |
4 | g.47936526T>C | CA439248127 | CNGA1,NIPAL1 | c.1956A>G (p.Lys652=) c.1968A>G (p.Lys656=) c.2175A>G (p.Lys725=) n.478+21822T>C n.563+21822T>C c.2193A>G (p.Lys731=) | |
4 | g.47936526T>G | CA356823096 | CNGA1,NIPAL1 | c.1956A>C (p.Lys652Asn) c.1968A>C (p.Lys656Asn) c.2175A>C (p.Lys725Asn) n.478+21822T>G n.563+21822T>G c.2193A>C (p.Lys731Asn) | |
4 | g.47936527T>A | CA356823097 | CNGA1,NIPAL1 | c.1955A>T (p.Lys652Ile) c.1967A>T (p.Lys656Ile) c.2174A>T (p.Lys725Ile) n.478+21823T>A n.563+21823T>A c.2192A>T (p.Lys731Ile) | dbSNP |
4 | g.47936527T>C | CA356823098 | CNGA1,NIPAL1 | c.1955A>G (p.Lys652Arg) c.1967A>G (p.Lys656Arg) c.2174A>G (p.Lys725Arg) n.478+21823T>C n.563+21823T>C c.2192A>G (p.Lys731Arg) | |
4 | g.47936527T>G | CA356823099 | CNGA1,NIPAL1 | c.1955A>C (p.Lys652Thr) c.1967A>C (p.Lys656Thr) c.2174A>C (p.Lys725Thr) n.478+21823T>G n.563+21823T>G c.2192A>C (p.Lys731Thr) | |
4 | g.47936527T= | CA1455551612 | CNGA1,NIPAL1 | c.1955A= (p.Lys652=) c.1967A= (p.Lys656=) c.2174A= (p.Lys725=) n.478+21823T= n.563+21823T= c.2192A= (p.Lys731=) | |
4 | g.47936528T>A | CA356823102 | CNGA1,NIPAL1 | c.1954A>T (p.Lys652Ter) c.1966A>T (p.Lys656Ter) c.2173A>T (p.Lys725Ter) n.478+21824T>A n.563+21824T>A c.2191A>T (p.Lys731Ter) | |
4 | g.47936528T>C | CA356823100 | CNGA1,NIPAL1 | c.1954A>G (p.Lys652Glu) c.1966A>G (p.Lys656Glu) c.2173A>G (p.Lys725Glu) n.478+21824T>C n.563+21824T>C c.2191A>G (p.Lys731Glu) | |
4 | g.47936528T>G | CA356823101 | CNGA1,NIPAL1 | c.1954A>C (p.Lys652Gln) c.1966A>C (p.Lys656Gln) c.2173A>C (p.Lys725Gln) n.478+21824T>G n.563+21824T>G c.2191A>C (p.Lys731Gln) | |
4 | g.47936529C>A | CA439248133 | CNGA1,NIPAL1 | c.1953G>T (p.Leu651=) c.1965G>T (p.Leu655=) c.2172G>T (p.Leu724=) n.478+21825C>A n.563+21825C>A c.2190G>T (p.Leu730=) | |
4 | g.47936529C>G | CA439248135 | CNGA1,NIPAL1 | c.1953G>C (p.Leu651=) c.1965G>C (p.Leu655=) c.2172G>C (p.Leu724=) n.478+21825C>G n.563+21825C>G c.2190G>C (p.Leu730=) | |
4 | g.47936529C>T | CA439248137 | CNGA1,NIPAL1 | c.1953G>A (p.Leu651=) c.1965G>A (p.Leu655=) c.2172G>A (p.Leu724=) n.478+21825C>T n.563+21825C>T c.2190G>A (p.Leu730=) | gnomAD v4 |
4 | g.47936530A>C | CA356823103 | CNGA1,NIPAL1 | c.1952T>G (p.Leu651Arg) c.1964T>G (p.Leu655Arg) c.2171T>G (p.Leu724Arg) n.478+21826A>C n.563+21826A>C c.2189T>G (p.Leu730Arg) | |
4 | g.47936530A>G | CA356823104 | CNGA1,NIPAL1 | c.1952T>C (p.Leu651Pro) c.1964T>C (p.Leu655Pro) c.2171T>C (p.Leu724Pro) n.478+21826A>G n.563+21826A>G c.2189T>C (p.Leu730Pro) | ClinVar dbSNP gnomAD v4 |
4 | g.47936530A>T | CA356823105 | CNGA1,NIPAL1 | c.1952T>A (p.Leu651Gln) c.1964T>A (p.Leu655Gln) c.2171T>A (p.Leu724Gln) n.478+21826A>T n.563+21826A>T c.2189T>A (p.Leu730Gln) | gnomAD v4 |
4 | g.47936531G>A | CA439248141 | CNGA1,NIPAL1 | c.1951C>T (p.Leu651=) c.1963C>T (p.Leu655=) c.2170C>T (p.Leu724=) n.478+21827G>A n.563+21827G>A c.2188C>T (p.Leu730=) | |
4 | g.47936531G>C | CA356823106 | CNGA1,NIPAL1 | c.1951C>G (p.Leu651Val) c.1963C>G (p.Leu655Val) c.2170C>G (p.Leu724Val) n.478+21827G>C n.563+21827G>C c.2188C>G (p.Leu730Val) | |
4 | g.47936531G>T | CA356823107 | CNGA1,NIPAL1 | c.1951C>A (p.Leu651Met) c.1963C>A (p.Leu655Met) c.2170C>A (p.Leu724Met) n.478+21827G>T n.563+21827G>T c.2188C>A (p.Leu730Met) | |
4 | g.47936532T>A | CA356823108 | CNGA1,NIPAL1 | c.1950A>T (p.Lys650Asn) c.1962A>T (p.Lys654Asn) c.2169A>T (p.Lys723Asn) n.478+21828T>A n.563+21828T>A c.2187A>T (p.Lys729Asn) | |
4 | g.47936532T>C | CA439248145 | CNGA1,NIPAL1 | c.1950A>G (p.Lys650=) c.1962A>G (p.Lys654=) c.2169A>G (p.Lys723=) n.478+21828T>C n.563+21828T>C c.2187A>G (p.Lys729=) | |
4 | g.47936532T>G | CA356823109 | CNGA1,NIPAL1 | c.1950A>C (p.Lys650Asn) c.1962A>C (p.Lys654Asn) c.2169A>C (p.Lys723Asn) n.478+21828T>G n.563+21828T>G c.2187A>C (p.Lys729Asn) | |
4 | g.47936533T>A | CA356823110 | CNGA1,NIPAL1 | c.1949A>T (p.Lys650Ile) c.1961A>T (p.Lys654Ile) c.2168A>T (p.Lys723Ile) n.478+21829T>A n.563+21829T>A c.2186A>T (p.Lys729Ile) | |
4 | g.47936533T>C | CA356823111 | CNGA1,NIPAL1 | c.1949A>G (p.Lys650Arg) c.1961A>G (p.Lys654Arg) c.2168A>G (p.Lys723Arg) n.478+21829T>C n.563+21829T>C c.2186A>G (p.Lys729Arg) | |
4 | g.47936533T>G | CA356823112 | CNGA1,NIPAL1 | c.1949A>C (p.Lys650Thr) c.1961A>C (p.Lys654Thr) c.2168A>C (p.Lys723Thr) n.478+21829T>G n.563+21829T>G c.2186A>C (p.Lys729Thr) | |
4 | g.47936534T>A | CA356823114 | CNGA1,NIPAL1 | c.1948A>T (p.Lys650Ter) c.1960A>T (p.Lys654Ter) c.2167A>T (p.Lys723Ter) n.478+21830T>A n.563+21830T>A c.2185A>T (p.Lys729Ter) | |
4 | g.47936534T>C | CA356823115 | CNGA1,NIPAL1 | c.1948A>G (p.Lys650Glu) c.1960A>G (p.Lys654Glu) c.2167A>G (p.Lys723Glu) n.478+21830T>C n.563+21830T>C c.2185A>G (p.Lys729Glu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
4 | g.47936534T>G | CA356823113 | CNGA1,NIPAL1 | c.1948A>C (p.Lys650Gln) c.1960A>C (p.Lys654Gln) c.2167A>C (p.Lys723Gln) n.478+21830T>G n.563+21830T>G c.2185A>C (p.Lys729Gln) | |
4 | g.47936534T= | CA1455551613 | CNGA1,NIPAL1 | c.1948A= (p.Lys650=) c.1960A= (p.Lys654=) c.2167A= (p.Lys723=) n.478+21830T= n.563+21830T= c.2185A= (p.Lys729=) | |
4 | g.47936535C>A | CA356823116 | CNGA1,NIPAL1 | c.1947G>T (p.Gln649His) c.1959G>T (p.Gln653His) c.2166G>T (p.Gln722His) n.478+21831C>A n.563+21831C>A c.2184G>T (p.Gln728His) | |
4 | g.47936535C>G | CA356823117 | CNGA1,NIPAL1 | c.1947G>C (p.Gln649His) c.1959G>C (p.Gln653His) c.2166G>C (p.Gln722His) n.478+21831C>G n.563+21831C>G c.2184G>C (p.Gln728His) | |
4 | g.47936535C>T | CA439248152 | CNGA1,NIPAL1 | c.1947G>A (p.Gln649=) c.1959G>A (p.Gln653=) c.2166G>A (p.Gln722=) n.478+21831C>T n.563+21831C>T c.2184G>A (p.Gln728=) | |
4 | g.47936536T>A | CA356823118 | CNGA1,NIPAL1 | c.1946A>T (p.Gln649Leu) c.1958A>T (p.Gln653Leu) c.2165A>T (p.Gln722Leu) n.478+21832T>A n.563+21832T>A c.2183A>T (p.Gln728Leu) | |
4 | g.47936536T>C | CA356823119 | CNGA1,NIPAL1 | c.1946A>G (p.Gln649Arg) c.1958A>G (p.Gln653Arg) c.2165A>G (p.Gln722Arg) n.478+21832T>C n.563+21832T>C c.2183A>G (p.Gln728Arg) | |
4 | g.47936536T>G | CA96687867 | CNGA1,NIPAL1 | c.1946A>C (p.Gln649Pro) c.1958A>C (p.Gln653Pro) c.2165A>C (p.Gln722Pro) n.478+21832T>G n.563+21832T>G c.2183A>C (p.Gln728Pro) | dbSNP |
4 | g.47936536T= | CA1455551614 | CNGA1,NIPAL1 | c.1946A= (p.Gln649=) c.1958A= (p.Gln653=) c.2165A= (p.Gln722=) n.478+21832T= n.563+21832T= c.2183A= (p.Gln728=) | |
4 | g.47936537G>A | CA356823122 | CNGA1,NIPAL1 | c.1945C>T (p.Gln649Ter) c.1957C>T (p.Gln653Ter) c.2164C>T (p.Gln722Ter) n.478+21833G>A n.563+21833G>A c.2182C>T (p.Gln728Ter) | gnomAD v4 |
4 | g.47936537G>C | CA356823120 | CNGA1,NIPAL1 | c.1945C>G (p.Gln649Glu) c.1957C>G (p.Gln653Glu) c.2164C>G (p.Gln722Glu) n.478+21833G>C n.563+21833G>C c.2182C>G (p.Gln728Glu) | |
4 | g.47936537G>T | CA356823121 | CNGA1,NIPAL1 | c.1945C>A (p.Gln649Lys) c.1957C>A (p.Gln653Lys) c.2164C>A (p.Gln722Lys) n.478+21833G>T n.563+21833G>T c.2182C>A (p.Gln728Lys) | |
4 | g.47936538C>A | CA356823123 | CNGA1,NIPAL1 | c.1944G>T (p.Gln648His) c.1956G>T (p.Gln652His) c.2163G>T (p.Gln721His) n.478+21834C>A n.563+21834C>A c.2181G>T (p.Gln727His) | |
4 | g.47936538C>G | CA356823124 | CNGA1,NIPAL1 | c.1944G>C (p.Gln648His) c.1956G>C (p.Gln652His) c.2163G>C (p.Gln721His) n.478+21834C>G n.563+21834C>G c.2181G>C (p.Gln727His) | |
4 | g.47936538C>T | CA439248157 | CNGA1,NIPAL1 | c.1944G>A (p.Gln648=) c.1956G>A (p.Gln652=) c.2163G>A (p.Gln721=) n.478+21834C>T n.563+21834C>T c.2181G>A (p.Gln727=) | |
4 | g.47936539T>A | CA356823125 | CNGA1,NIPAL1 | c.1943A>T (p.Gln648Leu) c.1955A>T (p.Gln652Leu) c.2162A>T (p.Gln721Leu) n.478+21835T>A n.563+21835T>A c.2180A>T (p.Gln727Leu) | |
4 | g.47936539T>C | CA356823126 | CNGA1,NIPAL1 | c.1943A>G (p.Gln648Arg) c.1955A>G (p.Gln652Arg) c.2162A>G (p.Gln721Arg) n.478+21835T>C n.563+21835T>C c.2180A>G (p.Gln727Arg) | |
4 | g.47936539T>G | CA356823127 | CNGA1,NIPAL1 | c.1943A>C (p.Gln648Pro) c.1955A>C (p.Gln652Pro) c.2162A>C (p.Gln721Pro) n.478+21835T>G n.563+21835T>G c.2180A>C (p.Gln727Pro) | |
4 | g.47936540G>A | CA356823128 | CNGA1,NIPAL1 | c.1942C>T (p.Gln648Ter) c.1954C>T (p.Gln652Ter) c.2161C>T (p.Gln721Ter) n.478+21836G>A n.563+21836G>A c.2179C>T (p.Gln727Ter) | dbSNP |
4 | g.47936540G>C | CA356823130 | CNGA1,NIPAL1 | c.1942C>G (p.Gln648Glu) c.1954C>G (p.Gln652Glu) c.2161C>G (p.Gln721Glu) n.478+21836G>C n.563+21836G>C c.2179C>G (p.Gln727Glu) | |
4 | g.47936540G= | CA1455551615 | CNGA1,NIPAL1 | c.1942C= (p.Gln648=) c.1954C= (p.Gln652=) c.2161C= (p.Gln721=) n.478+21836G= n.563+21836G= c.2179C= (p.Gln727=) | |
4 | g.47936540G>T | CA356823129 | CNGA1,NIPAL1 | c.1942C>A (p.Gln648Lys) c.1954C>A (p.Gln652Lys) c.2161C>A (p.Gln721Lys) n.478+21836G>T n.563+21836G>T c.2179C>A (p.Gln727Lys) | |
4 | g.47936541C>A | CA356823131 | CNGA1,NIPAL1 | c.1941G>T (p.Met647Ile) c.1953G>T (p.Met651Ile) c.2160G>T (p.Met720Ile) n.478+21837C>A n.563+21837C>A c.2178G>T (p.Met726Ile) | |
4 | g.47936541C>G | CA356823132 | CNGA1,NIPAL1 | c.1941G>C (p.Met647Ile) c.1953G>C (p.Met651Ile) c.2160G>C (p.Met720Ile) n.478+21837C>G n.563+21837C>G c.2178G>C (p.Met726Ile) | |
4 | g.47936541C>T | CA356823133 | CNGA1,NIPAL1 | c.1941G>A (p.Met647Ile) c.1953G>A (p.Met651Ile) c.2160G>A (p.Met720Ile) n.478+21837C>T n.563+21837C>T c.2178G>A (p.Met726Ile) | ClinVar gnomAD v4 COSMIC |
4 | g.47936542A= | CA1455551616 | CNGA1,NIPAL1 | c.1940T= (p.Met647=) c.1952T= (p.Met651=) c.2159T= (p.Met720=) n.478+21838A= n.563+21838A= c.2177T= (p.Met726=) | |
4 | g.47936542A>C | CA356823134 | CNGA1,NIPAL1 | c.1940T>G (p.Met647Arg) c.1952T>G (p.Met651Arg) c.2159T>G (p.Met720Arg) n.478+21838A>C n.563+21838A>C c.2177T>G (p.Met726Arg) | |
4 | g.47936542A>G | CA2910987 | CNGA1,NIPAL1 | c.1940T>C (p.Met647Thr) c.1952T>C (p.Met651Thr) c.2159T>C (p.Met720Thr) n.478+21838A>G n.563+21838A>G c.2177T>C (p.Met726Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.47936542A>T | CA356823135 | CNGA1,NIPAL1 | c.1940T>A (p.Met647Lys) c.1952T>A (p.Met651Lys) c.2159T>A (p.Met720Lys) n.478+21838A>T n.563+21838A>T c.2177T>A (p.Met726Lys) | |
4 | g.47936543T>A | CA356823136 | CNGA1,NIPAL1 | c.1939A>T (p.Met647Leu) c.1951A>T (p.Met651Leu) c.2158A>T (p.Met720Leu) n.478+21839T>A n.563+21839T>A c.2176A>T (p.Met726Leu) | gnomAD v4 |
4 | g.47936543T>C | CA2910988 | CNGA1,NIPAL1 | c.1939A>G (p.Met647Val) c.1951A>G (p.Met651Val) c.2158A>G (p.Met720Val) n.478+21839T>C n.563+21839T>C c.2176A>G (p.Met726Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.47936543T>G | CA356823137 | CNGA1,NIPAL1 | c.1939A>C (p.Met647Leu) c.1951A>C (p.Met651Leu) c.2158A>C (p.Met720Leu) n.478+21839T>G n.563+21839T>G c.2176A>C (p.Met726Leu) | dbSNP gnomAD v2 |
4 | g.47936543T= | CA1455551617 | CNGA1,NIPAL1 | c.1939A= (p.Met647=) c.1951A= (p.Met651=) c.2158A= (p.Met720=) n.478+21839T= n.563+21839T= c.2176A= (p.Met726=) | |
4 | g.47936544G>A | CA439248168 | CNGA1,NIPAL1 | c.1938C>T (p.Ser646=) c.1950C>T (p.Ser650=) c.2157C>T (p.Ser719=) n.478+21840G>A n.563+21840G>A c.2175C>T (p.Ser725=) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.47936544G>C | CA439248167 | CNGA1,NIPAL1 | c.1938C>G (p.Ser646=) c.1950C>G (p.Ser650=) c.2157C>G (p.Ser719=) n.478+21840G>C n.563+21840G>C c.2175C>G (p.Ser725=) | |
4 | g.47936544G= | CA1455551618 | CNGA1,NIPAL1 | c.1938C= (p.Ser646=) c.1950C= (p.Ser650=) c.2157C= (p.Ser719=) n.478+21840G= n.563+21840G= c.2175C= (p.Ser725=) | |
4 | g.47936544G>T | CA439248166 | CNGA1,NIPAL1 | c.1938C>A (p.Ser646=) c.1950C>A (p.Ser650=) c.2157C>A (p.Ser719=) n.478+21840G>T n.563+21840G>T c.2175C>A (p.Ser725=) | |
4 | g.47936545G>A | CA96687875 | CNGA1,NIPAL1 | c.1937C>T (p.Ser646Phe) c.1949C>T (p.Ser650Phe) c.2156C>T (p.Ser719Phe) n.478+21841G>A n.563+21841G>A c.2174C>T (p.Ser725Phe) | dbSNP |
4 | g.47936545G>C | CA356823138 | CNGA1,NIPAL1 | c.1937C>G (p.Ser646Cys) c.1949C>G (p.Ser650Cys) c.2156C>G (p.Ser719Cys) n.478+21841G>C n.563+21841G>C c.2174C>G (p.Ser725Cys) | |
4 | g.47936545G= | CA1455551619 | CNGA1,NIPAL1 | c.1937C= (p.Ser646=) c.1949C= (p.Ser650=) c.2156C= (p.Ser719=) n.478+21841G= n.563+21841G= c.2174C= (p.Ser725=) | |
4 | g.47936545G>T | CA356823139 | CNGA1,NIPAL1 | c.1937C>A (p.Ser646Tyr) c.1949C>A (p.Ser650Tyr) c.2156C>A (p.Ser719Tyr) n.478+21841G>T n.563+21841G>T c.2174C>A (p.Ser725Tyr) | |
4 | g.47936546A>C | CA356823141 | CNGA1,NIPAL1 | c.1936T>G (p.Ser646Ala) c.1948T>G (p.Ser650Ala) c.2155T>G (p.Ser719Ala) n.478+21842A>C n.563+21842A>C c.2173T>G (p.Ser725Ala) | |
4 | g.47936546A>G | CA356823142 | CNGA1,NIPAL1 | c.1936T>C (p.Ser646Pro) c.1948T>C (p.Ser650Pro) c.2155T>C (p.Ser719Pro) n.478+21842A>G n.563+21842A>G c.2173T>C (p.Ser725Pro) | |
4 | g.47936546A>T | CA356823140 | CNGA1,NIPAL1 | c.1936T>A (p.Ser646Thr) c.1948T>A (p.Ser650Thr) c.2155T>A (p.Ser719Thr) n.478+21842A>T n.563+21842A>T c.2173T>A (p.Ser725Thr) | |
4 | g.47936547C>A | CA356823144 | CNGA1,NIPAL1 | c.1935G>T (p.Glu645Asp) c.1947G>T (p.Glu649Asp) c.2154G>T (p.Glu718Asp) n.478+21843C>A n.563+21843C>A c.2172G>T (p.Glu724Asp) | |
4 | g.47936547C= | CA1455551620 | CNGA1,NIPAL1 | c.1935G= (p.Glu645=) c.1947G= (p.Glu649=) c.2154G= (p.Glu718=) n.478+21843C= n.563+21843C= c.2172G= (p.Glu724=) | |
4 | g.47936547C>G | CA356823143 | CNGA1,NIPAL1 | c.1935G>C (p.Glu645Asp) c.1947G>C (p.Glu649Asp) c.2154G>C (p.Glu718Asp) n.478+21843C>G n.563+21843C>G c.2172G>C (p.Glu724Asp) | |
4 | g.47936547C>T | CA2910989 | CNGA1,NIPAL1 | c.1935G>A (p.Glu645=) c.1947G>A (p.Glu649=) c.2154G>A (p.Glu718=) n.478+21843C>T n.563+21843C>T c.2172G>A (p.Glu724=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
4 | g.47936548T>A | CA356823145 | CNGA1,NIPAL1 | c.1934A>T (p.Glu645Val) c.1946A>T (p.Glu649Val) c.2153A>T (p.Glu718Val) n.478+21844T>A n.563+21844T>A c.2171A>T (p.Glu724Val) | |
4 | g.47936548T>C | CA356823146 | CNGA1,NIPAL1 | c.1934A>G (p.Glu645Gly) c.1946A>G (p.Glu649Gly) c.2153A>G (p.Glu718Gly) n.478+21844T>C n.563+21844T>C c.2171A>G (p.Glu724Gly) | |
4 | g.47936548T>G | CA2910990 | CNGA1,NIPAL1 | c.1934A>C (p.Glu645Ala) c.1946A>C (p.Glu649Ala) c.2153A>C (p.Glu718Ala) n.478+21844T>G n.563+21844T>G c.2171A>C (p.Glu724Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.47936548T= | CA1455551621 | CNGA1,NIPAL1 | c.1934A= (p.Glu645=) c.1946A= (p.Glu649=) c.2153A= (p.Glu718=) n.478+21844T= n.563+21844T= c.2171A= (p.Glu724=) | |
4 | g.47936549C>A | CA356823149 | CNGA1,NIPAL1 | c.1933G>T (p.Glu645Ter) c.1945G>T (p.Glu649Ter) c.2152G>T (p.Glu718Ter) n.478+21845C>A n.563+21845C>A c.2170G>T (p.Glu724Ter) | |
4 | g.47936549C>G | CA356823148 | CNGA1,NIPAL1 | c.1933G>C (p.Glu645Gln) c.1945G>C (p.Glu649Gln) c.2152G>C (p.Glu718Gln) n.478+21845C>G n.563+21845C>G c.2170G>C (p.Glu724Gln) | |
4 | g.47936549C>T | CA356823147 | CNGA1,NIPAL1 | c.1933G>A (p.Glu645Lys) c.1945G>A (p.Glu649Lys) c.2152G>A (p.Glu718Lys) n.478+21845C>T n.563+21845C>T c.2170G>A (p.Glu724Lys) | gnomAD v4 |
4 | g.47936550A= | CA1455551622 | CNGA1,NIPAL1 | c.1932T= (p.Tyr644=) c.1944T= (p.Tyr648=) c.2151T= (p.Tyr717=) n.478+21846A= n.563+21846A= c.2169T= (p.Tyr723=) | |
4 | g.47936550A>C | CA356823150 | CNGA1,NIPAL1 | c.1932T>G (p.Tyr644Ter) c.1944T>G (p.Tyr648Ter) c.2151T>G (p.Tyr717Ter) n.478+21846A>C n.563+21846A>C c.2169T>G (p.Tyr723Ter) | |
4 | g.47936550A>G | CA2910991 | CNGA1,NIPAL1 | c.1932T>C (p.Tyr644=) c.1944T>C (p.Tyr648=) c.2151T>C (p.Tyr717=) n.478+21846A>G n.563+21846A>G c.2169T>C (p.Tyr723=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.47936550A>T | CA356823151 | CNGA1,NIPAL1 | c.1932T>A (p.Tyr644Ter) c.1944T>A (p.Tyr648Ter) c.2151T>A (p.Tyr717Ter) n.478+21846A>T n.563+21846A>T c.2169T>A (p.Tyr723Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.47936551T>A | CA356823152 | CNGA1,NIPAL1 | c.1931A>T (p.Tyr644Phe) c.1943A>T (p.Tyr648Phe) c.2150A>T (p.Tyr717Phe) n.478+21847T>A n.563+21847T>A c.2168A>T (p.Tyr723Phe) | |
4 | g.47936551T>C | CA356823153 | CNGA1,NIPAL1 | c.1931A>G (p.Tyr644Cys) c.1943A>G (p.Tyr648Cys) c.2150A>G (p.Tyr717Cys) n.478+21847T>C n.563+21847T>C c.2168A>G (p.Tyr723Cys) | |
4 | g.47936551T>G | CA356823154 | CNGA1,NIPAL1 | c.1931A>C (p.Tyr644Ser) c.1943A>C (p.Tyr648Ser) c.2150A>C (p.Tyr717Ser) n.478+21847T>G n.563+21847T>G c.2168A>C (p.Tyr723Ser) | |
4 | g.47936552del | CA439248181 | CNGA1,NIPAL1 | c.1930del (p.Tyr644MetfsTer8) c.1942del (p.Tyr648MetfsTer8) c.2149del (p.Tyr717MetfsTer8) n.478+21848del n.563+21848del c.2167del (p.Tyr723MetfsTer8) | |
4 | g.47936552A= | CA1455551623 | CNGA1,NIPAL1 | c.1930T= (p.Tyr644=) c.1942T= (p.Tyr648=) c.2149T= (p.Tyr717=) n.478+21848A= n.563+21848A= c.2167T= (p.Tyr723=) | |
4 | g.47936552A>C | CA356823155 | CNGA1,NIPAL1 | c.1930T>G (p.Tyr644Asp) c.1942T>G (p.Tyr648Asp) c.2149T>G (p.Tyr717Asp) n.478+21848A>C n.563+21848A>C c.2167T>G (p.Tyr723Asp) | |
4 | g.47936552A>G | CA2910992 | CNGA1,NIPAL1 | c.1930T>C (p.Tyr644His) c.1942T>C (p.Tyr648His) c.2149T>C (p.Tyr717His) n.478+21848A>G n.563+21848A>G c.2167T>C (p.Tyr723His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.47936552A>T | CA2910993 | CNGA1,NIPAL1 | c.1930T>A (p.Tyr644Asn) c.1942T>A (p.Tyr648Asn) c.2149T>A (p.Tyr717Asn) n.478+21848A>T n.563+21848A>T c.2167T>A (p.Tyr723Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.47936553C>A | CA356823156 | CNGA1,NIPAL1 | c.1929G>T (p.Glu643Asp) c.1941G>T (p.Glu647Asp) c.2148G>T (p.Glu716Asp) n.478+21849C>A n.563+21849C>A c.2166G>T (p.Glu722Asp) | |
4 | g.47936553C>G | CA356823157 | CNGA1,NIPAL1 | c.1929G>C (p.Glu643Asp) c.1941G>C (p.Glu647Asp) c.2148G>C (p.Glu716Asp) n.478+21849C>G n.563+21849C>G c.2166G>C (p.Glu722Asp) | |
4 | g.47936553C>T | CA439248183 | CNGA1,NIPAL1 | c.1929G>A (p.Glu643=) c.1941G>A (p.Glu647=) c.2148G>A (p.Glu716=) n.478+21849C>T n.563+21849C>T c.2166G>A (p.Glu722=) | |
4 | g.47936554T>A | CA356823158 | CNGA1,NIPAL1 | c.1928A>T (p.Glu643Val) c.1940A>T (p.Glu647Val) c.2147A>T (p.Glu716Val) n.478+21850T>A n.563+21850T>A c.2165A>T (p.Glu722Val) | |
4 | g.47936554T>C | CA356823159 | CNGA1,NIPAL1 | c.1928A>G (p.Glu643Gly) c.1940A>G (p.Glu647Gly) c.2147A>G (p.Glu716Gly) n.478+21850T>C n.563+21850T>C c.2165A>G (p.Glu722Gly) | gnomAD v4 |
4 | g.47936554T>G | CA356823160 | CNGA1,NIPAL1 | c.1928A>C (p.Glu643Ala) c.1940A>C (p.Glu647Ala) c.2147A>C (p.Glu716Ala) n.478+21850T>G n.563+21850T>G c.2165A>C (p.Glu722Ala) | |
4 | g.47936555C>A | CA356823161 | CNGA1,NIPAL1 | c.1927G>T (p.Glu643Ter) c.1939G>T (p.Glu647Ter) c.2146G>T (p.Glu716Ter) n.478+21851C>A n.563+21851C>A c.2164G>T (p.Glu722Ter) | |
4 | g.47936555C>G | CA356823162 | CNGA1,NIPAL1 | c.1927G>C (p.Glu643Gln) c.1939G>C (p.Glu647Gln) c.2146G>C (p.Glu716Gln) n.478+21851C>G n.563+21851C>G c.2164G>C (p.Glu722Gln) | |
4 | g.47936555C>T | CA356823163 | CNGA1,NIPAL1 | c.1927G>A (p.Glu643Lys) c.1939G>A (p.Glu647Lys) c.2146G>A (p.Glu716Lys) n.478+21851C>T n.563+21851C>T c.2164G>A (p.Glu722Lys) | |
4 | g.47936556A>C | CA439248186 | CNGA1,NIPAL1 | c.1926T>G (p.Ala642=) c.1938T>G (p.Ala646=) c.2145T>G (p.Ala715=) n.478+21852A>C n.563+21852A>C c.2163T>G (p.Ala721=) | |
4 | g.47936556A>G | CA439248187 | CNGA1,NIPAL1 | c.1926T>C (p.Ala642=) c.1938T>C (p.Ala646=) c.2145T>C (p.Ala715=) n.478+21852A>G n.563+21852A>G c.2163T>C (p.Ala721=) | |
4 | g.47936556A>T | CA439248189 | CNGA1,NIPAL1 | c.1926T>A (p.Ala642=) c.1938T>A (p.Ala646=) c.2145T>A (p.Ala715=) n.478+21852A>T n.563+21852A>T c.2163T>A (p.Ala721=) | |
4 | g.47936557G>A | CA356823164 | CNGA1,NIPAL1 | c.1925C>T (p.Ala642Val) c.1937C>T (p.Ala646Val) c.2144C>T (p.Ala715Val) n.478+21853G>A n.563+21853G>A c.2162C>T (p.Ala721Val) | gnomAD v4 |
4 | g.47936557G>C | CA356823165 | CNGA1,NIPAL1 | c.1925C>G (p.Ala642Gly) c.1937C>G (p.Ala646Gly) c.2144C>G (p.Ala715Gly) n.478+21853G>C n.563+21853G>C c.2162C>G (p.Ala721Gly) | |
4 | g.47936557G>T | CA356823166 | CNGA1,NIPAL1 | c.1925C>A (p.Ala642Asp) c.1937C>A (p.Ala646Asp) c.2144C>A (p.Ala715Asp) n.478+21853G>T n.563+21853G>T c.2162C>A (p.Ala721Asp) | |
4 | g.47936558C>A | CA356823169 | CNGA1,NIPAL1 | c.1924G>T (p.Ala642Ser) c.1936G>T (p.Ala646Ser) c.2143G>T (p.Ala715Ser) n.478+21854C>A n.563+21854C>A c.2161G>T (p.Ala721Ser) | |
4 | g.47936558C>G | CA356823168 | CNGA1,NIPAL1 | c.1924G>C (p.Ala642Pro) c.1936G>C (p.Ala646Pro) c.2143G>C (p.Ala715Pro) n.478+21854C>G n.563+21854C>G c.2161G>C (p.Ala721Pro) | |
4 | g.47936558C>T | CA356823167 | CNGA1,NIPAL1 | c.1924G>A (p.Ala642Thr) c.1936G>A (p.Ala646Thr) c.2143G>A (p.Ala715Thr) n.478+21854C>T n.563+21854C>T c.2161G>A (p.Ala721Thr) | |
4 | g.47936559C>A | CA356823170 | CNGA1,NIPAL1 | c.1923G>T (p.Leu641Phe) c.1935G>T (p.Leu645Phe) c.2142G>T (p.Leu714Phe) n.478+21855C>A n.563+21855C>A c.2160G>T (p.Leu720Phe) | |
4 | g.47936559C>G | CA356823171 | CNGA1,NIPAL1 | c.1923G>C (p.Leu641Phe) c.1935G>C (p.Leu645Phe) c.2142G>C (p.Leu714Phe) n.478+21855C>G n.563+21855C>G c.2160G>C (p.Leu720Phe) | |
4 | g.47936559C>T | CA439248194 | CNGA1,NIPAL1 | c.1923G>A (p.Leu641=) c.1935G>A (p.Leu645=) c.2142G>A (p.Leu714=) n.478+21855C>T n.563+21855C>T c.2160G>A (p.Leu720=) | |
4 | g.47936560A>C | CA356823172 | CNGA1,NIPAL1 | c.1922T>G (p.Leu641Trp) c.1934T>G (p.Leu645Trp) c.2141T>G (p.Leu714Trp) n.478+21856A>C n.563+21856A>C c.2159T>G (p.Leu720Trp) | |
4 | g.47936560A>G | CA356823173 | CNGA1,NIPAL1 | c.1922T>C (p.Leu641Ser) c.1934T>C (p.Leu645Ser) c.2141T>C (p.Leu714Ser) n.478+21856A>G n.563+21856A>G c.2159T>C (p.Leu720Ser) | |
4 | g.47936560A>T | CA356823174 | CNGA1,NIPAL1 | c.1922T>A (p.Leu641Ter) c.1934T>A (p.Leu645Ter) c.2141T>A (p.Leu714Ter) n.478+21856A>T n.563+21856A>T c.2159T>A (p.Leu720Ter) | |
4 | g.47936561A= | CA1455551624 | CNGA1,NIPAL1 | c.1921T= (p.Leu641=) c.1933T= (p.Leu645=) c.2140T= (p.Leu714=) n.478+21857A= n.563+21857A= c.2158T= (p.Leu720=) | |
4 | g.47936561A>C | CA2910994 | CNGA1,NIPAL1 | c.1921T>G (p.Leu641Val) c.1933T>G (p.Leu645Val) c.2140T>G (p.Leu714Val) n.478+21857A>C n.563+21857A>C c.2158T>G (p.Leu720Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.47936561A>G | CA439248196 | CNGA1,NIPAL1 | c.1921T>C (p.Leu641=) c.1933T>C (p.Leu645=) c.2140T>C (p.Leu714=) n.478+21857A>G n.563+21857A>G c.2158T>C (p.Leu720=) | |
4 | g.47936561A>T | CA356823175 | CNGA1,NIPAL1 | c.1921T>A (p.Leu641Met) c.1933T>A (p.Leu645Met) c.2140T>A (p.Leu714Met) n.478+21857A>T n.563+21857A>T c.2158T>A (p.Leu720Met) | |
4 | g.47936562G>A | CA439248199 | CNGA1,NIPAL1 | c.1920C>T (p.Ile640=) c.1932C>T (p.Ile644=) c.2139C>T (p.Ile713=) n.478+21858G>A n.563+21858G>A c.2157C>T (p.Ile719=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.47936562G>C | CA356823176 | CNGA1,NIPAL1 | c.1920C>G (p.Ile640Met) c.1932C>G (p.Ile644Met) c.2139C>G (p.Ile713Met) n.478+21858G>C n.563+21858G>C c.2157C>G (p.Ile719Met) | COSMIC |
4 | g.47936562G= | CA1455551625 | CNGA1,NIPAL1 | c.1920C= (p.Ile640=) c.1932C= (p.Ile644=) c.2139C= (p.Ile713=) n.478+21858G= n.563+21858G= c.2157C= (p.Ile719=) | |
4 | g.47936562G>T | CA439248197 | CNGA1,NIPAL1 | c.1920C>A (p.Ile640=) c.1932C>A (p.Ile644=) c.2139C>A (p.Ile713=) n.478+21858G>T n.563+21858G>T c.2157C>A (p.Ile719=) | |
4 | g.47936563A>C | CA356823177 | CNGA1,NIPAL1 | c.1919T>G (p.Ile640Ser) c.1931T>G (p.Ile644Ser) c.2138T>G (p.Ile713Ser) n.478+21859A>C n.563+21859A>C c.2156T>G (p.Ile719Ser) | |
4 | g.47936563A>G | CA356823178 | CNGA1,NIPAL1 | c.1919T>C (p.Ile640Thr) c.1931T>C (p.Ile644Thr) c.2138T>C (p.Ile713Thr) n.478+21859A>G n.563+21859A>G c.2156T>C (p.Ile719Thr) | |
4 | g.47936563A>T | CA356823179 | CNGA1,NIPAL1 | c.1919T>A (p.Ile640Asn) c.1931T>A (p.Ile644Asn) c.2138T>A (p.Ile713Asn) n.478+21859A>T n.563+21859A>T c.2156T>A (p.Ile719Asn) | |
4 | g.47936563dup | CA2910995 | CNGA1,NIPAL1 | c.1919dup (p.Ala642GlyfsTer2) c.1931dup (p.Ala646GlyfsTer2) c.2138dup (p.Ala715GlyfsTer2) n.478+21859dup n.563+21859dup c.2156dup (p.Ala721GlyfsTer2) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.47936564T>A | CA356823181 | CNGA1,NIPAL1 | c.1918A>T (p.Ile640Phe) c.1930A>T (p.Ile644Phe) c.2137A>T (p.Ile713Phe) n.478+21860T>A n.563+21860T>A c.2155A>T (p.Ile719Phe) | |
4 | g.47936564T>C | CA356823182 | CNGA1,NIPAL1 | c.1918A>G (p.Ile640Val) c.1930A>G (p.Ile644Val) c.2137A>G (p.Ile713Val) n.478+21860T>C n.563+21860T>C c.2155A>G (p.Ile719Val) | |
4 | g.47936564T>G | CA356823180 | CNGA1,NIPAL1 | c.1918A>C (p.Ile640Leu) c.1930A>C (p.Ile644Leu) c.2137A>C (p.Ile713Leu) n.478+21860T>G n.563+21860T>G c.2155A>C (p.Ile719Leu) | |
4 | g.47936565T>A | CA439248202 | CNGA1,NIPAL1 | c.1917A>T (p.Arg639=) c.1929A>T (p.Arg643=) c.2136A>T (p.Arg712=) n.478+21861T>A n.563+21861T>A c.2154A>T (p.Arg718=) | |
4 | g.47936565T>C | CA439248204 | CNGA1,NIPAL1 | c.1917A>G (p.Arg639=) c.1929A>G (p.Arg643=) c.2136A>G (p.Arg712=) n.478+21861T>C n.563+21861T>C c.2154A>G (p.Arg718=) | |
4 | g.47936565T>G | CA439248203 | CNGA1,NIPAL1 | c.1917A>C (p.Arg639=) c.1929A>C (p.Arg643=) c.2136A>C (p.Arg712=) n.478+21861T>G n.563+21861T>G c.2154A>C (p.Arg718=) | gnomAD v4 |
4 | g.47936566C>A | CA356823183 | CNGA1,NIPAL1 | c.1916G>T (p.Arg639Leu) c.1928G>T (p.Arg643Leu) c.2135G>T (p.Arg712Leu) n.478+21862C>A n.563+21862C>A c.2153G>T (p.Arg718Leu) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.47936566C= | CA1455551626 | CNGA1,NIPAL1 | c.1916G= (p.Arg639=) c.1928G= (p.Arg643=) c.2135G= (p.Arg712=) n.478+21862C= n.563+21862C= c.2153G= (p.Arg718=) | |
4 | g.47936566C>G | CA356823184 | CNGA1,NIPAL1 | c.1916G>C (p.Arg639Pro) c.1928G>C (p.Arg643Pro) c.2135G>C (p.Arg712Pro) n.478+21862C>G n.563+21862C>G c.2153G>C (p.Arg718Pro) | |
4 | g.47936566C>T | CA2910996 | CNGA1,NIPAL1 | c.1916G>A (p.Arg639Gln) c.1928G>A (p.Arg643Gln) c.2135G>A (p.Arg712Gln) n.478+21862C>T n.563+21862C>T c.2153G>A (p.Arg718Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
4 | g.47936567G>A | CA2910997 | CNGA1,NIPAL1 | c.1915C>T (p.Arg639Ter) c.1927C>T (p.Arg643Ter) c.2134C>T (p.Arg712Ter) n.478+21863G>A n.563+21863G>A c.2152C>T (p.Arg718Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
4 | g.47936567G>C | CA356823185 | CNGA1,NIPAL1 | c.1915C>G (p.Arg639Gly) c.1927C>G (p.Arg643Gly) c.2134C>G (p.Arg712Gly) n.478+21863G>C n.563+21863G>C c.2152C>G (p.Arg718Gly) | |
4 | g.47936567G= | CA1455551627 | CNGA1,NIPAL1 | c.1915C= (p.Arg639=) c.1927C= (p.Arg643=) c.2134C= (p.Arg712=) n.478+21863G= n.563+21863G= c.2152C= (p.Arg718=) | |
4 | g.47936567G>T | CA439248208 | CNGA1,NIPAL1 | c.1915C>A (p.Arg639=) c.1927C>A (p.Arg643=) c.2134C>A (p.Arg712=) n.478+21863G>T n.563+21863G>T c.2152C>A (p.Arg718=) | |
4 | g.47936568G>A | CA439248209 | CNGA1,NIPAL1 | c.1914C>T (p.Ala638=) c.1926C>T (p.Ala642=) c.2133C>T (p.Ala711=) n.478+21864G>A n.563+21864G>A c.2151C>T (p.Ala717=) | gnomAD v4 |
4 | g.47936568G>C | CA439248210 | CNGA1,NIPAL1 | c.1914C>G (p.Ala638=) c.1926C>G (p.Ala642=) c.2133C>G (p.Ala711=) n.478+21864G>C n.563+21864G>C c.2151C>G (p.Ala717=) | |
4 | g.47936568G>T | CA439248212 | CNGA1,NIPAL1 | c.1914C>A (p.Ala638=) c.1926C>A (p.Ala642=) c.2133C>A (p.Ala711=) n.478+21864G>T n.563+21864G>T c.2151C>A (p.Ala717=) | |
4 | g.47936569G>A | CA356823188 | CNGA1,NIPAL1 | c.1913C>T (p.Ala638Val) c.1925C>T (p.Ala642Val) c.2132C>T (p.Ala711Val) n.478+21865G>A n.563+21865G>A c.2150C>T (p.Ala717Val) | gnomAD v4 |
4 | g.47936569G>C | CA356823186 | CNGA1,NIPAL1 | c.1913C>G (p.Ala638Gly) c.1925C>G (p.Ala642Gly) c.2132C>G (p.Ala711Gly) n.478+21865G>C n.563+21865G>C c.2150C>G (p.Ala717Gly) | |
4 | g.47936569G>T | CA356823187 | CNGA1,NIPAL1 | c.1913C>A (p.Ala638Asp) c.1925C>A (p.Ala642Asp) c.2132C>A (p.Ala711Asp) n.478+21865G>T n.563+21865G>T c.2150C>A (p.Ala717Asp) | |
4 | g.47936570C>A | CA356823189 | CNGA1,NIPAL1 | c.1912G>T (p.Ala638Ser) c.1924G>T (p.Ala642Ser) c.2131G>T (p.Ala711Ser) n.478+21866C>A n.563+21866C>A c.2149G>T (p.Ala717Ser) | |
4 | g.47936570C= | CA1455551628 | CNGA1,NIPAL1 | c.1912G= (p.Ala638=) c.1924G= (p.Ala642=) c.2131G= (p.Ala711=) n.478+21866C= n.563+21866C= c.2149G= (p.Ala717=) | |
4 | g.47936570C>G | CA356823190 | CNGA1,NIPAL1 | c.1912G>C (p.Ala638Pro) c.1924G>C (p.Ala642Pro) c.2131G>C (p.Ala711Pro) n.478+21866C>G n.563+21866C>G c.2149G>C (p.Ala717Pro) | |
4 | g.47936570C>T | CA96687931 | CNGA1,NIPAL1 | c.1912G>A (p.Ala638Thr) c.1924G>A (p.Ala642Thr) c.2131G>A (p.Ala711Thr) n.478+21866C>T n.563+21866C>T c.2149G>A (p.Ala717Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.47936571A>C | CA356823191 | CNGA1,NIPAL1 | c.1911T>G (p.Phe637Leu) c.1923T>G (p.Phe641Leu) c.2130T>G (p.Phe710Leu) n.478+21867A>C n.563+21867A>C c.2148T>G (p.Phe716Leu) | |
4 | g.47936571A>G | CA439248217 | CNGA1,NIPAL1 | c.1911T>C (p.Phe637=) c.1923T>C (p.Phe641=) c.2130T>C (p.Phe710=) n.478+21867A>G n.563+21867A>G c.2148T>C (p.Phe716=) | |
4 | g.47936571A>T | CA356823192 | CNGA1,NIPAL1 | c.1911T>A (p.Phe637Leu) c.1923T>A (p.Phe641Leu) c.2130T>A (p.Phe710Leu) n.478+21867A>T n.563+21867A>T c.2148T>A (p.Phe716Leu) | |
4 | g.47936572A>C | CA356823195 | CNGA1,NIPAL1 | c.1910T>G (p.Phe637Cys) c.1922T>G (p.Phe641Cys) c.2129T>G (p.Phe710Cys) n.478+21868A>C n.563+21868A>C c.2147T>G (p.Phe716Cys) | |
4 | g.47936572A>G | CA356823194 | CNGA1,NIPAL1 | c.1910T>C (p.Phe637Ser) c.1922T>C (p.Phe641Ser) c.2129T>C (p.Phe710Ser) n.478+21868A>G n.563+21868A>G c.2147T>C (p.Phe716Ser) | |
4 | g.47936572A>T | CA356823193 | CNGA1,NIPAL1 | c.1910T>A (p.Phe637Tyr) c.1922T>A (p.Phe641Tyr) c.2129T>A (p.Phe710Tyr) n.478+21868A>T n.563+21868A>T c.2147T>A (p.Phe716Tyr) | |
4 | g.47936573A>C | CA356823196 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936573A>G | CA356823198 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936573A>T | CA356823197 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936574C>A | CA356823199 | CNGA1,NIPAL1 | c.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 |
4 | g.47936574C= | CA1455551629 | CNGA1,NIPAL1 | c.1908G= (p.Arg636=) c.1920G= (p.Arg640=) c.2127G= (p.Arg709=) n.478+21870C= n.563+21870C= c.2145G= (p.Arg715=) | |
4 | g.47936574C>G | CA356823200 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936574C>T | CA439248219 | CNGA1,NIPAL1 | c.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 |
4 | g.47936575C>A | CA356823201 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936575C>G | CA356823202 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936575C>T | CA356823203 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936576T>A | CA356823204 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936576T>C | CA96687937 | CNGA1,NIPAL1 | c.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 |
4 | g.47936576T>G | CA439248220 | CNGA1,NIPAL1 | c.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=) | |
4 | g.47936576T= | CA1455551630 | CNGA1,NIPAL1 | c.1906A= (p.Arg636=) c.1918A= (p.Arg640=) c.2125A= (p.Arg709=) n.478+21872T= n.563+21872T= c.2143A= (p.Arg715=) | |
4 | g.47936577G>A | CA439248222 | CNGA1,NIPAL1 | c.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=) | |
4 | g.47936577G>C | CA439248223 | CNGA1,NIPAL1 | c.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=) | |
4 | g.47936577G>T | CA439248224 | CNGA1,NIPAL1 | c.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 |
4 | g.47936578G>A | CA356823207 | CNGA1,NIPAL1 | c.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 |
4 | g.47936578G>C | CA356823205 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936578G= | CA1455551631 | CNGA1,NIPAL1 | c.1904C= (p.Thr635=) c.1916C= (p.Thr639=) c.2123C= (p.Thr708=) n.478+21874G= n.563+21874G= c.2141C= (p.Thr714=) | |
4 | g.47936578G>T | CA356823206 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936579T>A | CA356823208 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936579T>C | CA356823209 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936579T>G | CA356823210 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936580T>A | CA356823213 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936580T>C | CA439248226 | CNGA1,NIPAL1 | c.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=) | |
4 | g.47936580T>G | CA356823215 | CNGA1,NIPAL1 | c.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 |
4 | g.47936581T>A | CA356823217 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936581T>C | CA356823221 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936581T>G | CA356823219 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936582G>A | CA356823223 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936582G>C | CA356823225 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936582G>T | CA356823226 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936583C>A | CA439248231 | CNGA1,NIPAL1 | c.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=) | |
4 | g.47936583C>G | CA439248233 | CNGA1,NIPAL1 | c.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=) | |
4 | g.47936583C>T | CA439248234 | CNGA1,NIPAL1 | c.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 |
4 | g.47936584A= | CA1455551632 | CNGA1,NIPAL1 | c.1898T= (p.Leu633=) c.1910T= (p.Leu637=) c.2117T= (p.Leu706=) n.478+21880A= n.563+21880A= c.2135T= (p.Leu712=) | |
4 | g.47936584A>C | CA2910998 | CNGA1,NIPAL1 | c.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 |
4 | g.47936584A>G | CA356823227 | CNGA1,NIPAL1 | c.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 |
4 | g.47936584A>T | CA356823228 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936587_47936589del | CA2670552339 | CNGA1,NIPAL1 | c.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 |
4 | g.47936585G>A | CA439248236 | CNGA1,NIPAL1 | c.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=) | |
4 | g.47936585G>C | CA356823229 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936585G>T | CA356823230 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936586G>A | CA439248237 | CNGA1,NIPAL1 | c.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=) | |
4 | g.47936586G>C | CA439248240 | CNGA1,NIPAL1 | c.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=) | |
4 | g.47936586G= | CA1455551633 | CNGA1,NIPAL1 | c.1896C= (p.Leu632=) c.1908C= (p.Leu636=) c.2115C= (p.Leu705=) n.478+21882G= n.563+21882G= c.2133C= (p.Leu711=) | |
4 | g.47936586G>T | CA439248238 | CNGA1,NIPAL1 | c.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 |
4 | g.47936587del | CA2670552340 | CNGA1,NIPAL1 | c.1895del (p.Leu632ProfsTer20) c.1907del (p.Leu636ProfsTer20) c.2114del (p.Leu705ProfsTer20) n.478+21883del n.563+21883del c.2132del (p.Leu711ProfsTer20) | gnomAD v4 |
4 | g.47936587A>C | CA356823231 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936587A>G | CA356823232 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936587A>T | CA356823234 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936588G>A | CA356823236 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936588G>C | CA356823239 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936588G= | CA1455551634 | CNGA1,NIPAL1 | c.1894C= (p.Leu632=) c.1906C= (p.Leu636=) c.2113C= (p.Leu705=) n.478+21884G= n.563+21884G= c.2131C= (p.Leu711=) | |
4 | g.47936588G>T | CA2910999 | CNGA1,NIPAL1 | c.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 |
4 | g.47936589G>A | CA439248244 | CNGA1,NIPAL1 | c.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=) | |
4 | g.47936589G>C | CA356823241 | CNGA1,NIPAL1 | c.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 |
4 | g.47936589G= | CA1455551635 | CNGA1,NIPAL1 | c.1893C= (p.Asp631=) c.1905C= (p.Asp635=) c.2112C= (p.Asp704=) n.478+21885G= n.563+21885G= c.2130C= (p.Asp710=) | |
4 | g.47936589G>T | CA356823243 | CNGA1,NIPAL1 | c.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 |
4 | g.47936590T>A | CA356823245 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936590T>C | CA2911000 | CNGA1,NIPAL1 | c.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 |
4 | g.47936590T>G | CA356823248 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936590T= | CA1455551636 | CNGA1,NIPAL1 | c.1892A= (p.Asp631=) c.1904A= (p.Asp635=) c.2111A= (p.Asp704=) n.478+21886T= n.563+21886T= c.2129A= (p.Asp710=) | |
4 | g.47936591C>A | CA356823250 | CNGA1,NIPAL1 | c.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 |
4 | g.47936591C= | CA1455551637 | CNGA1,NIPAL1 | c.1891G= (p.Asp631=) c.1903G= (p.Asp635=) c.2110G= (p.Asp704=) n.478+21887C= n.563+21887C= c.2128G= (p.Asp710=) | |
4 | g.47936591C>G | CA356823253 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936591C>T | CA356823254 | CNGA1,NIPAL1 | c.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 |
4 | g.47936592T>A | CA439248247 | CNGA1,NIPAL1 | c.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=) | |
4 | g.47936592T>C | CA439248248 | CNGA1,NIPAL1 | c.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 |
4 | g.47936592T>G | CA439248249 | CNGA1,NIPAL1 | c.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=) | |
4 | g.47936592T= | CA1455551638 | CNGA1,NIPAL1 | c.1890A= (p.Val630=) c.1902A= (p.Val634=) c.2109A= (p.Val703=) n.478+21888T= n.563+21888T= c.2127A= (p.Val709=) | |
4 | g.47936593A= | CA1455551639 | CNGA1,NIPAL1 | c.1889T= (p.Val630=) c.1901T= (p.Val634=) c.2108T= (p.Val703=) n.478+21889A= n.563+21889A= c.2126T= (p.Val709=) | |
4 | g.47936593A>C | CA2911001 | CNGA1,NIPAL1 | c.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 |
4 | g.47936593A>G | CA356823258 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936593A>T | CA356823260 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936594C>A | CA356823266 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936594C>G | CA356823264 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936594C>T | CA356823262 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936595T>A | CA439248253 | CNGA1,NIPAL1 | c.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=) | |
4 | g.47936595T>C | CA439248251 | CNGA1,NIPAL1 | c.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=) | |
4 | g.47936595T>G | CA439248252 | CNGA1,NIPAL1 | c.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=) | |
4 | g.47936595dup | CA2670552341 | CNGA1,NIPAL1 | c.1887dup (p.Val630SerfsTer14) c.1899dup (p.Val634SerfsTer14) c.2106dup (p.Val703SerfsTer14) n.478+21891dup n.563+21891dup c.2124dup (p.Val709SerfsTer14) | gnomAD v4 |
4 | g.47936596G>A | CA356823269 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936596G>C | CA356823271 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936596G>T | CA356823273 | CNGA1,NIPAL1 | c.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 |
4 | g.47936597A>C | CA356823276 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936597A>G | CA356823277 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936597A>T | CA356823279 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936598C>A | CA439248254 | CNGA1,NIPAL1 | c.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 |
4 | g.47936598C>G | CA439248255 | CNGA1,NIPAL1 | c.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=) | |
4 | g.47936598C>T | CA439248256 | CNGA1,NIPAL1 | c.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=) | |
4 | g.47936600_47936601del | CA2670552342 | CNGA1,NIPAL1 | c.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 |
4 | g.47936599C>A | CA356823282 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936599C>G | CA356823284 | CNGA1,NIPAL1 | c.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 |
4 | g.47936599C>T | CA356823286 | CNGA1,NIPAL1 | c.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 |
4 | g.47936600C>A | CA356823288 | CNGA1,NIPAL1 | c.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 |
4 | g.47936600C= | CA1455551640 | CNGA1,NIPAL1 | c.1882G= (p.Gly628=) c.1894G= (p.Gly632=) c.2101G= (p.Gly701=) n.478+21896C= n.563+21896C= c.2119G= (p.Gly707=) | |
4 | g.47936600C>G | CA356823291 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936600C>T | CA356823293 | CNGA1,NIPAL1 | c.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 |
4 | g.47936601C>A | CA356823299 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936601C= | CA1455551641 | CNGA1,NIPAL1 | c.1881G= (p.Glu627=) c.1893G= (p.Glu631=) c.2100G= (p.Glu700=) n.478+21897C= n.563+21897C= c.2118G= (p.Glu706=) | |
4 | g.47936601C>G | CA356823297 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936601C>T | CA96687982 | CNGA1,NIPAL1 | c.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 |
4 | g.47936602_47936603dup | CA2670552343 | CNGA1,NIPAL1 | c.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 |
4 | g.47936602T>A | CA356823301 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936602T>C | CA356823306 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936602T>G | CA356823303 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936603C>A | CA356823308 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936603C= | CA1455551642 | CNGA1,NIPAL1 | c.1879G= (p.Glu627=) c.1891G= (p.Glu631=) c.2098G= (p.Glu700=) n.478+21899C= n.563+21899C= c.2116G= (p.Glu706=) | |
4 | g.47936603C>G | CA356823310 | CNGA1,NIPAL1 | c.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 |
4 | g.47936603C>T | CA356823312 | CNGA1,NIPAL1 | c.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 |
4 | g.47936604C>A | CA356823315 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936604C>G | CA356823316 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936604C>T | CA356823318 | CNGA1,NIPAL1 | c.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 |
4 | g.47936605_47936606insACCAAACACACCCAACACA | CA2761332293 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936605A= | CA1455551643 | CNGA1,NIPAL1 | c.1877T= (p.Met626=) c.1889T= (p.Met630=) c.2096T= (p.Met699=) n.478+21901A= n.563+21901A= c.2114T= (p.Met705=) | |
4 | g.47936605A>C | CA356823321 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936605A>G | CA356823323 | CNGA1,NIPAL1 | c.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 |
4 | g.47936605A>T | CA356823325 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936606T>A | CA356823328 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936606T>C | CA356823330 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936606T>G | CA356823331 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936607T>A | CA439248260 | CNGA1,NIPAL1 | c.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=) | |
4 | g.47936607T>C | CA439248262 | CNGA1,NIPAL1 | c.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=) | |
4 | g.47936607T>G | CA439248261 | CNGA1,NIPAL1 | c.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=) | |
4 | g.47936608C>A | CA356823336 | CNGA1,NIPAL1 | c.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 |
4 | g.47936608C= | CA1455551644 | CNGA1,NIPAL1 | c.1874G= (p.Arg625=) c.1886G= (p.Arg629=) c.2093G= (p.Arg698=) n.478+21904C= n.563+21904C= c.2111G= (p.Arg704=) | |
4 | g.47936608C>G | CA356823333 | CNGA1,NIPAL1 | c.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 |
4 | g.47936608C>T | CA2911002 | CNGA1,NIPAL1 | c.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 |
4 | g.47936609G>A | CA2911003 | CNGA1,NIPAL1 | c.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 |
4 | g.47936609G>C | CA356823341 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936609G= | CA1455551645 | CNGA1,NIPAL1 | c.1873C= (p.Arg625=) c.1885C= (p.Arg629=) c.2092C= (p.Arg698=) n.478+21905G= n.563+21905G= c.2110C= (p.Arg704=) | |
4 | g.47936609G>T | CA96688008 | CNGA1,NIPAL1 | c.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 |
4 | g.47936610A>C | CA439248267 | CNGA1,NIPAL1 | c.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=) | |
4 | g.47936610A>G | CA439248268 | CNGA1,NIPAL1 | c.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=) | |
4 | g.47936610A>T | CA439248269 | CNGA1,NIPAL1 | c.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=) | |
4 | g.47936611G>A | CA356823344 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936611G>C | CA356823345 | CNGA1,NIPAL1 | c.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 |
4 | g.47936611G>T | CA356823347 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936612T>A | CA356823350 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936612T>C | CA356823352 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936612T>G | CA356823353 | CNGA1,NIPAL1 | c.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 |
4 | g.47936612T= | CA1455551646 | CNGA1,NIPAL1 | c.1870A= (p.Thr624=) c.1882A= (p.Thr628=) c.2089A= (p.Thr697=) n.478+21908T= n.563+21908T= c.2107A= (p.Thr703=) | |
4 | g.47936613A>C | CA439248273 | CNGA1,NIPAL1 | c.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=) | |
4 | g.47936613A>G | CA439248274 | CNGA1,NIPAL1 | c.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=) | |
4 | g.47936613A>T | CA439248276 | CNGA1,NIPAL1 | c.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=) | |
4 | g.47936614A>C | CA356823356 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936614A>G | CA356823357 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936614A>T | CA356823359 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936615C>A | CA2911004 | CNGA1,NIPAL1 | c.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 |
4 | g.47936615C= | CA1455551647 | CNGA1,NIPAL1 | c.1867G= (p.Val623=) c.1879G= (p.Val627=) c.2086G= (p.Val696=) n.478+21911C= n.563+21911C= c.2104G= (p.Val702=) | |
4 | g.47936615C>G | CA356823364 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936615C>T | CA356823362 | CNGA1,NIPAL1 | c.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 |
4 | g.47936616del | CA2670552344 | CNGA1,NIPAL1 | c.1867del (p.Val623LeufsTer8) c.1879del (p.Val627LeufsTer8) c.2086del (p.Val696LeufsTer8) n.478+21912del n.563+21912del c.2104del (p.Val702LeufsTer8) | gnomAD v4 |
4 | g.47936616C>A | CA356823368 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936616C>G | CA356823370 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936616C>T | CA439248281 | CNGA1,NIPAL1 | c.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=) | |
4 | g.47936617T>A | CA356823372 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936617T>C | CA356823373 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936617T>G | CA356823375 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936618T>A | CA356823376 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936618T>C | CA356823377 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936618T>G | CA2911005 | CNGA1,NIPAL1 | c.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 |
4 | g.47936618T= | CA1455551648 | CNGA1,NIPAL1 | c.1864A= (p.Lys622=) c.1876A= (p.Lys626=) c.2083A= (p.Lys695=) n.478+21914T= n.563+21914T= c.2101A= (p.Lys701=) | |
4 | g.47936619C>A | CA356823381 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936619C>G | CA356823383 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936619C>T | CA439248285 | CNGA1,NIPAL1 | c.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=) | |
4 | g.47936620T>A | CA356823386 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936620T>C | CA356823388 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936620T>G | CA356823390 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936621C>A | CA356823396 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936621C>G | CA356823393 | CNGA1,NIPAL1 | c.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) | |
4 | g.47936621C>T | CA356823394 | CNGA1,NIPAL1 | c.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 |