| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.47936861C>A | CA356824860 | CNGA1,NIPAL1 | c.1621G>T (p.Gly541Cys) c.1633G>T (p.Gly545Cys) c.1840G>T (p.Gly614Cys) n.478+22157C>A n.563+22157C>A c.1858G>T (p.Gly620Cys) | |
| 4 | g.47936861C= | CA1455551740 | CNGA1,NIPAL1 | c.1621G= (p.Gly541=) c.1633G= (p.Gly545=) c.1840G= (p.Gly614=) n.478+22157C= n.563+22157C= c.1858G= (p.Gly620=) | |
| 4 | g.47936861C>G | CA356824865 | CNGA1,NIPAL1 | c.1621G>C (p.Gly541Arg) c.1633G>C (p.Gly545Arg) c.1840G>C (p.Gly614Arg) n.478+22157C>G n.563+22157C>G c.1858G>C (p.Gly620Arg) | |
| 4 | g.47936861C>T | CA270046 | CNGA1,NIPAL1 | c.1621G>A (p.Gly541Ser) c.1633G>A (p.Gly545Ser) c.1840G>A (p.Gly614Ser) n.478+22157C>T n.563+22157C>T c.1858G>A (p.Gly620Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 4 | g.47936862G>A | CA2911041 | CNGA1,NIPAL1 | c.1620C>T (p.Phe540=) c.1632C>T (p.Phe544=) c.1839C>T (p.Phe613=) n.478+22158G>A n.563+22158G>A c.1857C>T (p.Phe619=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.47936862G>C | CA356824866 | CNGA1,NIPAL1 | c.1620C>G (p.Phe540Leu) c.1632C>G (p.Phe544Leu) c.1839C>G (p.Phe613Leu) n.478+22158G>C n.563+22158G>C c.1857C>G (p.Phe619Leu) | |
| 4 | g.47936862G= | CA1455551741 | CNGA1,NIPAL1 | c.1620C= (p.Phe540=) c.1632C= (p.Phe544=) c.1839C= (p.Phe613=) n.478+22158G= n.563+22158G= c.1857C= (p.Phe619=) | |
| 4 | g.47936862G>T | CA356824867 | CNGA1,NIPAL1 | c.1620C>A (p.Phe540Leu) c.1632C>A (p.Phe544Leu) c.1839C>A (p.Phe613Leu) n.478+22158G>T n.563+22158G>T c.1857C>A (p.Phe619Leu) | |
| 4 | g.47936863A= | CA1455551742 | CNGA1,NIPAL1 | c.1619T= (p.Phe540=) c.1631T= (p.Phe544=) c.1838T= (p.Phe613=) n.478+22159A= n.563+22159A= c.1856T= (p.Phe619=) | |
| 4 | g.47936863A>C | CA356824868 | CNGA1,NIPAL1 | c.1619T>G (p.Phe540Cys) c.1631T>G (p.Phe544Cys) c.1838T>G (p.Phe613Cys) n.478+22159A>C n.563+22159A>C c.1856T>G (p.Phe619Cys) | ClinVar dbSNP |
| 4 | g.47936863A>G | CA356824869 | CNGA1,NIPAL1 | c.1619T>C (p.Phe540Ser) c.1631T>C (p.Phe544Ser) c.1838T>C (p.Phe613Ser) n.478+22159A>G n.563+22159A>G c.1856T>C (p.Phe619Ser) | |
| 4 | g.47936863A>T | CA356824870 | CNGA1,NIPAL1 | c.1619T>A (p.Phe540Tyr) c.1631T>A (p.Phe544Tyr) c.1838T>A (p.Phe613Tyr) n.478+22159A>T n.563+22159A>T c.1856T>A (p.Phe619Tyr) | |
| 4 | g.47936864A>C | CA356824871 | CNGA1,NIPAL1 | c.1618T>G (p.Phe540Val) c.1630T>G (p.Phe544Val) c.1837T>G (p.Phe613Val) n.479-22160A>C n.563+22160A>C c.1855T>G (p.Phe619Val) | |
| 4 | g.47936864A>G | CA356824872 | CNGA1,NIPAL1 | c.1618T>C (p.Phe540Leu) c.1630T>C (p.Phe544Leu) c.1837T>C (p.Phe613Leu) n.479-22160A>G n.563+22160A>G c.1855T>C (p.Phe619Leu) | |
| 4 | g.47936864A>T | CA356824874 | CNGA1,NIPAL1 | c.1618T>A (p.Phe540Ile) c.1630T>A (p.Phe544Ile) c.1837T>A (p.Phe613Ile) n.479-22160A>T n.563+22160A>T c.1855T>A (p.Phe619Ile) | |
| 4 | g.47936865G>A | CA439404134 | CNGA1,NIPAL1 | c.1617C>T (p.Tyr539=) c.1629C>T (p.Tyr543=) c.1836C>T (p.Tyr612=) n.479-22159G>A n.563+22161G>A c.1854C>T (p.Tyr618=) | gnomAD v4 |
| 4 | g.47936865G>C | CA356824877 | CNGA1,NIPAL1 | c.1617C>G (p.Tyr539Ter) c.1629C>G (p.Tyr543Ter) c.1836C>G (p.Tyr612Ter) n.479-22159G>C n.563+22161G>C c.1854C>G (p.Tyr618Ter) | ClinVar dbSNP |
| 4 | g.47936865G= | CA1455551743 | CNGA1,NIPAL1 | c.1617C= (p.Tyr539=) c.1629C= (p.Tyr543=) c.1836C= (p.Tyr612=) n.479-22159G= n.563+22161G= c.1854C= (p.Tyr618=) | |
| 4 | g.47936865G>T | CA356824880 | CNGA1,NIPAL1 | c.1617C>A (p.Tyr539Ter) c.1629C>A (p.Tyr543Ter) c.1836C>A (p.Tyr612Ter) n.479-22159G>T n.563+22161G>T c.1854C>A (p.Tyr618Ter) | |
| 4 | g.47936866T>A | CA356824888 | CNGA1,NIPAL1 | c.1616A>T (p.Tyr539Phe) c.1628A>T (p.Tyr543Phe) c.1835A>T (p.Tyr612Phe) n.479-22158T>A n.563+22162T>A c.1853A>T (p.Tyr618Phe) | |
| 4 | g.47936866T>C | CA356824883 | CNGA1,NIPAL1 | c.1616A>G (p.Tyr539Cys) c.1628A>G (p.Tyr543Cys) c.1835A>G (p.Tyr612Cys) n.479-22158T>C n.563+22162T>C c.1853A>G (p.Tyr618Cys) | |
| 4 | g.47936866T>G | CA356824885 | CNGA1,NIPAL1 | c.1616A>C (p.Tyr539Ser) c.1628A>C (p.Tyr543Ser) c.1835A>C (p.Tyr612Ser) n.479-22158T>G n.563+22162T>G c.1853A>C (p.Tyr618Ser) | |
| 4 | g.47936867A>C | CA356824891 | CNGA1,NIPAL1 | c.1615T>G (p.Tyr539Asp) c.1627T>G (p.Tyr543Asp) c.1834T>G (p.Tyr612Asp) n.479-22157A>C n.563+22163A>C c.1852T>G (p.Tyr618Asp) | |
| 4 | g.47936867A>G | CA356824893 | CNGA1,NIPAL1 | c.1615T>C (p.Tyr539His) c.1627T>C (p.Tyr543His) c.1834T>C (p.Tyr612His) n.479-22157A>G n.563+22163A>G c.1852T>C (p.Tyr618His) | |
| 4 | g.47936867A>T | CA356824895 | CNGA1,NIPAL1 | c.1615T>A (p.Tyr539Asn) c.1627T>A (p.Tyr543Asn) c.1834T>A (p.Tyr612Asn) n.479-22157A>T n.563+22163A>T c.1852T>A (p.Tyr618Asn) | |
| 4 | g.47936868G>A | CA439404137 | CNGA1,NIPAL1 | c.1614C>T (p.Ser538=) c.1626C>T (p.Ser542=) c.1833C>T (p.Ser611=) n.479-22156G>A n.563+22164G>A c.1851C>T (p.Ser617=) | dbSNP |
| 4 | g.47936868G>C | CA356824897 | CNGA1,NIPAL1 | c.1614C>G (p.Ser538Arg) c.1626C>G (p.Ser542Arg) c.1833C>G (p.Ser611Arg) n.479-22156G>C n.563+22164G>C c.1851C>G (p.Ser617Arg) | |
| 4 | g.47936868G= | CA1455551744 | CNGA1,NIPAL1 | c.1614C= (p.Ser538=) c.1626C= (p.Ser542=) c.1833C= (p.Ser611=) n.479-22156G= n.563+22164G= c.1851C= (p.Ser617=) | |
| 4 | g.47936868G>T | CA356824900 | CNGA1,NIPAL1 | c.1614C>A (p.Ser538Arg) c.1626C>A (p.Ser542Arg) c.1833C>A (p.Ser611Arg) n.479-22156G>T n.563+22164G>T c.1851C>A (p.Ser617Arg) | |
| 4 | g.47936869C>A | CA356824905 | CNGA1,NIPAL1 | c.1613G>T (p.Ser538Ile) c.1625G>T (p.Ser542Ile) c.1832G>T (p.Ser611Ile) n.479-22155C>A n.563+22165C>A c.1850G>T (p.Ser617Ile) | |
| 4 | g.47936869C>G | CA356824908 | CNGA1,NIPAL1 | c.1613G>C (p.Ser538Thr) c.1625G>C (p.Ser542Thr) c.1832G>C (p.Ser611Thr) n.479-22155C>G n.563+22165C>G c.1850G>C (p.Ser617Thr) | |
| 4 | g.47936869C>T | CA356824909 | CNGA1,NIPAL1 | c.1613G>A (p.Ser538Asn) c.1625G>A (p.Ser542Asn) c.1832G>A (p.Ser611Asn) n.479-22155C>T n.563+22165C>T c.1850G>A (p.Ser617Asn) | gnomAD v4 |
| 4 | g.47936870T>A | CA356824914 | CNGA1,NIPAL1 | c.1612A>T (p.Ser538Cys) c.1624A>T (p.Ser542Cys) c.1831A>T (p.Ser611Cys) n.479-22154T>A n.563+22166T>A c.1849A>T (p.Ser617Cys) | |
| 4 | g.47936870T>C | CA356824916 | CNGA1,NIPAL1 | c.1612A>G (p.Ser538Gly) c.1624A>G (p.Ser542Gly) c.1831A>G (p.Ser611Gly) n.479-22154T>C n.563+22166T>C c.1849A>G (p.Ser617Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.47936870T>G | CA356824919 | CNGA1,NIPAL1 | c.1612A>C (p.Ser538Arg) c.1624A>C (p.Ser542Arg) c.1831A>C (p.Ser611Arg) n.479-22154T>G n.563+22166T>G c.1849A>C (p.Ser617Arg) | |
| 4 | g.47936870T= | CA1455551745 | CNGA1,NIPAL1 | c.1612A= (p.Ser538=) c.1624A= (p.Ser542=) c.1831A= (p.Ser611=) n.479-22154T= n.563+22166T= c.1849A= (p.Ser617=) | |
| 4 | g.47936871G>A | CA439404140 | CNGA1,NIPAL1 | c.1611C>T (p.Gly537=) c.1623C>T (p.Gly541=) c.1830C>T (p.Gly610=) n.479-22153G>A n.563+22167G>A c.1848C>T (p.Gly616=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.47936871G>C | CA439404141 | CNGA1,NIPAL1 | c.1611C>G (p.Gly537=) c.1623C>G (p.Gly541=) c.1830C>G (p.Gly610=) n.479-22153G>C n.563+22167G>C c.1848C>G (p.Gly616=) | |
| 4 | g.47936871G= | CA1455551746 | CNGA1,NIPAL1 | c.1611C= (p.Gly537=) c.1623C= (p.Gly541=) c.1830C= (p.Gly610=) n.479-22153G= n.563+22167G= c.1848C= (p.Gly616=) | |
| 4 | g.47936871G>T | CA439404145 | CNGA1,NIPAL1 | c.1611C>A (p.Gly537=) c.1623C>A (p.Gly541=) c.1830C>A (p.Gly610=) n.479-22153G>T n.563+22167G>T c.1848C>A (p.Gly616=) | |
| 4 | g.47936872C>A | CA356824923 | CNGA1,NIPAL1 | c.1610G>T (p.Gly537Val) c.1622G>T (p.Gly541Val) c.1829G>T (p.Gly610Val) n.479-22152C>A n.563+22168C>A c.1847G>T (p.Gly616Val) | |
| 4 | g.47936872C>G | CA356824925 | CNGA1,NIPAL1 | c.1610G>C (p.Gly537Ala) c.1622G>C (p.Gly541Ala) c.1829G>C (p.Gly610Ala) n.479-22152C>G n.563+22168C>G c.1847G>C (p.Gly616Ala) | |
| 4 | g.47936872C>T | CA356824927 | CNGA1,NIPAL1 | c.1610G>A (p.Gly537Asp) c.1622G>A (p.Gly541Asp) c.1829G>A (p.Gly610Asp) n.479-22152C>T n.563+22168C>T c.1847G>A (p.Gly616Asp) | |
| 4 | g.47936873C>A | CA356824934 | CNGA1,NIPAL1 | c.1609G>T (p.Gly537Cys) c.1621G>T (p.Gly541Cys) c.1828G>T (p.Gly610Cys) n.479-22151C>A n.563+22169C>A c.1846G>T (p.Gly616Cys) | |
| 4 | g.47936873C>G | CA356824932 | CNGA1,NIPAL1 | c.1609G>C (p.Gly537Arg) c.1621G>C (p.Gly541Arg) c.1828G>C (p.Gly610Arg) n.479-22151C>G n.563+22169C>G c.1846G>C (p.Gly616Arg) | gnomAD v4 |
| 4 | g.47936873C>T | CA356824930 | CNGA1,NIPAL1 | c.1609G>A (p.Gly537Ser) c.1621G>A (p.Gly541Ser) c.1828G>A (p.Gly610Ser) n.479-22151C>T n.563+22169C>T c.1846G>A (p.Gly616Ser) | |
| 4 | g.47936874A= | CA1455551747 | CNGA1,NIPAL1 | c.1608T= (p.Asp536=) c.1620T= (p.Asp540=) c.1827T= (p.Asp609=) n.479-22150A= n.563+22170A= c.1845T= (p.Asp615=) | |
| 4 | g.47936874A>C | CA356824937 | CNGA1,NIPAL1 | c.1608T>G (p.Asp536Glu) c.1620T>G (p.Asp540Glu) c.1827T>G (p.Asp609Glu) n.479-22150A>C n.563+22170A>C c.1845T>G (p.Asp615Glu) | |
| 4 | g.47936874A>G | CA439404147 | CNGA1,NIPAL1 | c.1608T>C (p.Asp536=) c.1620T>C (p.Asp540=) c.1827T>C (p.Asp609=) n.479-22150A>G n.563+22170A>G c.1845T>C (p.Asp615=) | dbSNP |
| 4 | g.47936874A>T | CA356824939 | CNGA1,NIPAL1 | c.1608T>A (p.Asp536Glu) c.1620T>A (p.Asp540Glu) c.1827T>A (p.Asp609Glu) n.479-22150A>T n.563+22170A>T c.1845T>A (p.Asp615Glu) |