| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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) |