Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
4 | g.47936860C>A | CA356824853 | CNGA1,NIPAL1 | c.1622G>T (p.Gly541Val) c.1634G>T (p.Gly545Val) c.1841G>T (p.Gly614Val) n.478+22156C>A n.563+22156C>A c.1859G>T (p.Gly620Val) | |
4 | g.47936860C= | CA1455551739 | CNGA1,NIPAL1 | c.1622G= (p.Gly541=) c.1634G= (p.Gly545=) c.1841G= (p.Gly614=) n.478+22156C= n.563+22156C= c.1859G= (p.Gly620=) | |
4 | g.47936860C>G | CA356824855 | CNGA1,NIPAL1 | c.1622G>C (p.Gly541Ala) c.1634G>C (p.Gly545Ala) c.1841G>C (p.Gly614Ala) n.478+22156C>G n.563+22156C>G c.1859G>C (p.Gly620Ala) | |
4 | g.47936860C>T | CA2911040 | CNGA1,NIPAL1 | c.1622G>A (p.Gly541Asp) c.1634G>A (p.Gly545Asp) c.1841G>A (p.Gly614Asp) n.478+22156C>T n.563+22156C>T c.1859G>A (p.Gly620Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
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) | |
4 | g.47936875T>A | CA356824941 | CNGA1,NIPAL1 | c.1607A>T (p.Asp536Val) c.1619A>T (p.Asp540Val) c.1826A>T (p.Asp609Val) n.479-22149T>A n.563+22171T>A c.1844A>T (p.Asp615Val) | |
4 | g.47936875T>C | CA356824943 | CNGA1,NIPAL1 | c.1607A>G (p.Asp536Gly) c.1619A>G (p.Asp540Gly) c.1826A>G (p.Asp609Gly) n.479-22149T>C n.563+22171T>C c.1844A>G (p.Asp615Gly) | dbSNP |
4 | g.47936875T>G | CA356824945 | CNGA1,NIPAL1 | c.1607A>C (p.Asp536Ala) c.1619A>C (p.Asp540Ala) c.1826A>C (p.Asp609Ala) n.479-22149T>G n.563+22171T>G c.1844A>C (p.Asp615Ala) | |
4 | g.47936876C>A | CA356824947 | CNGA1,NIPAL1 | c.1606G>T (p.Asp536Tyr) c.1618G>T (p.Asp540Tyr) c.1825G>T (p.Asp609Tyr) n.479-22148C>A n.563+22172C>A c.1843G>T (p.Asp615Tyr) | dbSNP |
4 | g.47936876C= | CA1455551748 | CNGA1,NIPAL1 | c.1606G= (p.Asp536=) c.1618G= (p.Asp540=) c.1825G= (p.Asp609=) n.479-22148C= n.563+22172C= c.1843G= (p.Asp615=) | |
4 | g.47936876C>G | CA356824949 | CNGA1,NIPAL1 | c.1606G>C (p.Asp536His) c.1618G>C (p.Asp540His) c.1825G>C (p.Asp609His) n.479-22148C>G n.563+22172C>G c.1843G>C (p.Asp615His) | dbSNP |
4 | g.47936876C>T | CA2911042 | CNGA1,NIPAL1 | c.1606G>A (p.Asp536Asn) c.1618G>A (p.Asp540Asn) c.1825G>A (p.Asp609Asn) n.479-22148C>T n.563+22172C>T c.1843G>A (p.Asp615Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
4 | g.47936876_47936882del | CA2529342764 | CNGA1,NIPAL1 | c.1600_1606del (p.Leu534MetfsTer?) c.1612_1618del (p.Leu538MetfsTer?) c.1819_1825del (p.Leu607MetfsTer?) n.479-22148_479-22142del n.563+22172_563+22178del c.1837_1843del (p.Leu613MetfsTer?) | |
4 | g.47936877G>A | CA2911043 | CNGA1,NIPAL1 | c.1605C>T (p.Ser535=) c.1617C>T (p.Ser539=) c.1824C>T (p.Ser608=) n.479-22147G>A n.563+22173G>A c.1842C>T (p.Ser614=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.47936877G>C | CA356824954 | CNGA1,NIPAL1 | c.1605C>G (p.Ser535Arg) c.1617C>G (p.Ser539Arg) c.1824C>G (p.Ser608Arg) n.479-22147G>C n.563+22173G>C c.1842C>G (p.Ser614Arg) | |
4 | g.47936877G= | CA1455551749 | CNGA1,NIPAL1 | c.1605C= (p.Ser535=) c.1617C= (p.Ser539=) c.1824C= (p.Ser608=) n.479-22147G= n.563+22173G= c.1842C= (p.Ser614=) | |
4 | g.47936877G>T | CA356824956 | CNGA1,NIPAL1 | c.1605C>A (p.Ser535Arg) c.1617C>A (p.Ser539Arg) c.1824C>A (p.Ser608Arg) n.479-22147G>T n.563+22173G>T c.1842C>A (p.Ser614Arg) | |
4 | g.47936878C>A | CA356824959 | CNGA1,NIPAL1 | c.1604G>T (p.Ser535Ile) c.1616G>T (p.Ser539Ile) c.1823G>T (p.Ser608Ile) n.479-22146C>A n.563+22174C>A c.1841G>T (p.Ser614Ile) | |
4 | g.47936878C= | CA1455551750 | CNGA1,NIPAL1 | c.1604G= (p.Ser535=) c.1616G= (p.Ser539=) c.1823G= (p.Ser608=) n.479-22146C= n.563+22174C= c.1841G= (p.Ser614=) | |
4 | g.47936878C>G | CA356824961 | CNGA1,NIPAL1 | c.1604G>C (p.Ser535Thr) c.1616G>C (p.Ser539Thr) c.1823G>C (p.Ser608Thr) n.479-22146C>G n.563+22174C>G c.1841G>C (p.Ser614Thr) | |
4 | g.47936878C>T | CA356824962 | CNGA1,NIPAL1 | c.1604G>A (p.Ser535Asn) c.1616G>A (p.Ser539Asn) c.1823G>A (p.Ser608Asn) n.479-22146C>T n.563+22174C>T c.1841G>A (p.Ser614Asn) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.47936879T>A | CA356824966 | CNGA1,NIPAL1 | c.1603A>T (p.Ser535Cys) c.1615A>T (p.Ser539Cys) c.1822A>T (p.Ser608Cys) n.479-22145T>A n.563+22175T>A c.1840A>T (p.Ser614Cys) | |
4 | g.47936879T>C | CA356824967 | CNGA1,NIPAL1 | c.1603A>G (p.Ser535Gly) c.1615A>G (p.Ser539Gly) c.1822A>G (p.Ser608Gly) n.479-22145T>C n.563+22175T>C c.1840A>G (p.Ser614Gly) | gnomAD v4 |
4 | g.47936879T>G | CA356824964 | CNGA1,NIPAL1 | c.1603A>C (p.Ser535Arg) c.1615A>C (p.Ser539Arg) c.1822A>C (p.Ser608Arg) n.479-22145T>G n.563+22175T>G c.1840A>C (p.Ser614Arg) | |
4 | g.47936880C>A | CA356824969 | CNGA1,NIPAL1 | c.1602G>T (p.Leu534Phe) c.1614G>T (p.Leu538Phe) c.1821G>T (p.Leu607Phe) n.479-22144C>A n.563+22176C>A c.1839G>T (p.Leu613Phe) | |
4 | g.47936880C= | CA1455551751 | CNGA1,NIPAL1 | c.1602G= (p.Leu534=) c.1614G= (p.Leu538=) c.1821G= (p.Leu607=) n.479-22144C= n.563+22176C= c.1839G= (p.Leu613=) | |
4 | g.47936880C>G | CA2911045 | CNGA1,NIPAL1 | c.1602G>C (p.Leu534Phe) c.1614G>C (p.Leu538Phe) c.1821G>C (p.Leu607Phe) n.479-22144C>G n.563+22176C>G c.1839G>C (p.Leu613Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.47936880C>T | CA2911044 | CNGA1,NIPAL1 | c.1602G>A (p.Leu534=) c.1614G>A (p.Leu538=) c.1821G>A (p.Leu607=) n.479-22144C>T n.563+22176C>T c.1839G>A (p.Leu613=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.47936881A= | CA1455551752 | CNGA1,NIPAL1 | c.1601T= (p.Leu534=) c.1613T= (p.Leu538=) c.1820T= (p.Leu607=) n.479-22143A= n.563+22177A= c.1838T= (p.Leu613=) | |
4 | g.47936881A>C | CA356824971 | CNGA1,NIPAL1 | c.1601T>G (p.Leu534Trp) c.1613T>G (p.Leu538Trp) c.1820T>G (p.Leu607Trp) n.479-22143A>C n.563+22177A>C c.1838T>G (p.Leu613Trp) | |
4 | g.47936881A>G | CA2911046 | CNGA1,NIPAL1 | c.1601T>C (p.Leu534Ser) c.1613T>C (p.Leu538Ser) c.1820T>C (p.Leu607Ser) n.479-22143A>G n.563+22177A>G c.1838T>C (p.Leu613Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.47936881A>T | CA356824974 | CNGA1,NIPAL1 | c.1601T>A (p.Leu534Ter) c.1613T>A (p.Leu538Ter) c.1820T>A (p.Leu607Ter) n.479-22143A>T n.563+22177A>T c.1838T>A (p.Leu613Ter) | |
4 | g.47936882A= | CA1455551753 | CNGA1,NIPAL1 | c.1600T= (p.Leu534=) c.1612T= (p.Leu538=) c.1819T= (p.Leu607=) n.479-22142A= n.563+22178A= c.1837T= (p.Leu613=) | |
4 | g.47936882A>C | CA356824977 | CNGA1,NIPAL1 | c.1600T>G (p.Leu534Val) c.1612T>G (p.Leu538Val) c.1819T>G (p.Leu607Val) n.479-22142A>C n.563+22178A>C c.1837T>G (p.Leu613Val) | |
4 | g.47936882A>G | CA2911047 | CNGA1,NIPAL1 | c.1600T>C (p.Leu534=) c.1612T>C (p.Leu538=) c.1819T>C (p.Leu607=) n.479-22142A>G n.563+22178A>G c.1837T>C (p.Leu613=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.47936882A>T | CA356824979 | CNGA1,NIPAL1 | c.1600T>A (p.Leu534Met) c.1612T>A (p.Leu538Met) c.1819T>A (p.Leu607Met) n.479-22142A>T n.563+22178A>T c.1837T>A (p.Leu613Met) | |
4 | g.47936883T>A | CA439404160 | CNGA1,NIPAL1 | c.1599A>T (p.Val533=) c.1611A>T (p.Val537=) c.1818A>T (p.Val606=) n.479-22141T>A n.563+22179T>A c.1836A>T (p.Val612=) | |
4 | g.47936883T>C | CA439404163 | CNGA1,NIPAL1 | c.1599A>G (p.Val533=) c.1611A>G (p.Val537=) c.1818A>G (p.Val606=) n.479-22141T>C n.563+22179T>C c.1836A>G (p.Val612=) | |
4 | g.47936883T>G | CA439404161 | CNGA1,NIPAL1 | c.1599A>C (p.Val533=) c.1611A>C (p.Val537=) c.1818A>C (p.Val606=) n.479-22141T>G n.563+22179T>G c.1836A>C (p.Val612=) | |
4 | g.47936884A>C | CA356824983 | CNGA1,NIPAL1 | c.1598T>G (p.Val533Gly) c.1610T>G (p.Val537Gly) c.1817T>G (p.Val606Gly) n.479-22140A>C n.563+22180A>C c.1835T>G (p.Val612Gly) | |
4 | g.47936884A>G | CA356824985 | CNGA1,NIPAL1 | c.1598T>C (p.Val533Ala) c.1610T>C (p.Val537Ala) c.1817T>C (p.Val606Ala) n.479-22140A>G n.563+22180A>G c.1835T>C (p.Val612Ala) | |
4 | g.47936884A>T | CA356824988 | CNGA1,NIPAL1 | c.1598T>A (p.Val533Glu) c.1610T>A (p.Val537Glu) c.1817T>A (p.Val606Glu) n.479-22140A>T n.563+22180A>T c.1835T>A (p.Val612Glu) | |
4 | g.47936885C>A | CA2911048 | CNGA1,NIPAL1 | c.1597G>T (p.Val533Leu) c.1609G>T (p.Val537Leu) c.1816G>T (p.Val606Leu) n.479-22139C>A n.563+22181C>A c.1834G>T (p.Val612Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.47936885C= | CA1455551754 | CNGA1,NIPAL1 | c.1597G= (p.Val533=) c.1609G= (p.Val537=) c.1816G= (p.Val606=) n.479-22139C= n.563+22181C= c.1834G= (p.Val612=) | |
4 | g.47936885C>G | CA356824992 | CNGA1,NIPAL1 | c.1597G>C (p.Val533Leu) c.1609G>C (p.Val537Leu) c.1816G>C (p.Val606Leu) n.479-22139C>G n.563+22181C>G c.1834G>C (p.Val612Leu) | |
4 | g.47936885C>T | CA356824990 | CNGA1,NIPAL1 | c.1597G>A (p.Val533Ile) c.1609G>A (p.Val537Ile) c.1816G>A (p.Val606Ile) n.479-22139C>T n.563+22181C>T c.1834G>A (p.Val612Ile) | dbSNP |
4 | g.47936886del | CA2670552346 | CNGA1,NIPAL1 | c.1597del (p.Val533TyrfsTer2) c.1609del (p.Val537TyrfsTer2) c.1816del (p.Val606TyrfsTer2) n.479-22138del n.563+22182del c.1834del (p.Val612TyrfsTer2) | gnomAD v4 |
4 | g.47936886C>A | CA439404166 | CNGA1,NIPAL1 | c.1596G>T (p.Val532=) c.1608G>T (p.Val536=) c.1815G>T (p.Val605=) n.479-22138C>A n.563+22182C>A c.1833G>T (p.Val611=) | |
4 | g.47936886C= | CA1455551755 | CNGA1,NIPAL1 | c.1596G= (p.Val532=) c.1608G= (p.Val536=) c.1815G= (p.Val605=) n.479-22138C= n.563+22182C= c.1833G= (p.Val611=) | |
4 | g.47936886C>G | CA439404167 | CNGA1,NIPAL1 | c.1596G>C (p.Val532=) c.1608G>C (p.Val536=) c.1815G>C (p.Val605=) n.479-22138C>G n.563+22182C>G c.1833G>C (p.Val611=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.47936886C>T | CA439404169 | CNGA1,NIPAL1 | c.1596G>A (p.Val532=) c.1608G>A (p.Val536=) c.1815G>A (p.Val605=) n.479-22138C>T n.563+22182C>T c.1833G>A (p.Val611=) | ClinVar gnomAD v4 |
4 | g.47936887A>C | CA356824996 | CNGA1,NIPAL1 | c.1595T>G (p.Val532Gly) c.1607T>G (p.Val536Gly) c.1814T>G (p.Val605Gly) n.479-22137A>C n.563+22183A>C c.1832T>G (p.Val611Gly) | |
4 | g.47936887A>G | CA356824997 | CNGA1,NIPAL1 | c.1595T>C (p.Val532Ala) c.1607T>C (p.Val536Ala) c.1814T>C (p.Val605Ala) n.479-22137A>G n.563+22183A>G c.1832T>C (p.Val611Ala) | |
4 | g.47936887A>T | CA356825000 | CNGA1,NIPAL1 | c.1595T>A (p.Val532Glu) c.1607T>A (p.Val536Glu) c.1814T>A (p.Val605Glu) n.479-22137A>T n.563+22183A>T c.1832T>A (p.Val611Glu) | |
4 | g.47936887_47936888insAAG | CA2512346352 | CNGA1,NIPAL1 | c.1594_1595insCTT (p.Val532delinsAlaLeu) c.1606_1607insCTT (p.Val536delinsAlaLeu) c.1813_1814insCTT (p.Val605delinsAlaLeu) n.479-22137_479-22136insAAG n.563+22183_563+22184insAAG c.1831_1832insCTT (p.Val611delinsAlaLeu) | |
4 | g.47936888C>A | CA356825002 | CNGA1,NIPAL1 | c.1594G>T (p.Val532Leu) c.1606G>T (p.Val536Leu) c.1813G>T (p.Val605Leu) n.479-22136C>A n.563+22184C>A c.1831G>T (p.Val611Leu) | |
4 | g.47936888C>G | CA356825004 | CNGA1,NIPAL1 | c.1594G>C (p.Val532Leu) c.1606G>C (p.Val536Leu) c.1813G>C (p.Val605Leu) n.479-22136C>G n.563+22184C>G c.1831G>C (p.Val611Leu) | |
4 | g.47936888C>T | CA356825005 | CNGA1,NIPAL1 | c.1594G>A (p.Val532Met) c.1606G>A (p.Val536Met) c.1813G>A (p.Val605Met) n.479-22136C>T n.563+22184C>T c.1831G>A (p.Val611Met) | |
4 | g.47936889A= | CA1455551756 | CNGA1,NIPAL1 | c.1593T= (p.Phe531=) c.1605T= (p.Phe535=) c.1812T= (p.Phe604=) n.479-22135A= n.563+22185A= c.1830T= (p.Phe610=) | |
4 | g.47936889A>C | CA356825007 | CNGA1,NIPAL1 | c.1593T>G (p.Phe531Leu) c.1605T>G (p.Phe535Leu) c.1812T>G (p.Phe604Leu) n.479-22135A>C n.563+22185A>C c.1830T>G (p.Phe610Leu) | |
4 | g.47936889A>G | CA2911049 | CNGA1,NIPAL1 | c.1593T>C (p.Phe531=) c.1605T>C (p.Phe535=) c.1812T>C (p.Phe604=) n.479-22135A>G n.563+22185A>G c.1830T>C (p.Phe610=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.47936889A>T | CA356825010 | CNGA1,NIPAL1 | c.1593T>A (p.Phe531Leu) c.1605T>A (p.Phe535Leu) c.1812T>A (p.Phe604Leu) n.479-22135A>T n.563+22185A>T c.1830T>A (p.Phe610Leu) | |
4 | g.47936890A>C | CA356825013 | CNGA1,NIPAL1 | c.1592T>G (p.Phe531Cys) c.1604T>G (p.Phe535Cys) c.1811T>G (p.Phe604Cys) n.479-22134A>C n.563+22186A>C c.1829T>G (p.Phe610Cys) | |
4 | g.47936890A>G | CA356825015 | CNGA1,NIPAL1 | c.1592T>C (p.Phe531Ser) c.1604T>C (p.Phe535Ser) c.1811T>C (p.Phe604Ser) n.479-22134A>G n.563+22186A>G c.1829T>C (p.Phe610Ser) | |
4 | g.47936890A>T | CA356825017 | CNGA1,NIPAL1 | c.1592T>A (p.Phe531Tyr) c.1604T>A (p.Phe535Tyr) c.1811T>A (p.Phe604Tyr) n.479-22134A>T n.563+22186A>T c.1829T>A (p.Phe610Tyr) | |
4 | g.47936891A>C | CA356825023 | CNGA1,NIPAL1 | c.1591T>G (p.Phe531Val) c.1603T>G (p.Phe535Val) c.1810T>G (p.Phe604Val) n.479-22133A>C n.563+22187A>C c.1828T>G (p.Phe610Val) | |
4 | g.47936891A>G | CA356825020 | CNGA1,NIPAL1 | c.1591T>C (p.Phe531Leu) c.1603T>C (p.Phe535Leu) c.1810T>C (p.Phe604Leu) n.479-22133A>G n.563+22187A>G c.1828T>C (p.Phe610Leu) | |
4 | g.47936891A>T | CA356825022 | CNGA1,NIPAL1 | c.1591T>A (p.Phe531Ile) c.1603T>A (p.Phe535Ile) c.1810T>A (p.Phe604Ile) n.479-22133A>T n.563+22187A>T c.1828T>A (p.Phe610Ile) | |
4 | g.47936892C>A | CA356825025 | CNGA1,NIPAL1 | c.1590G>T (p.Gln530His) c.1602G>T (p.Gln534His) c.1809G>T (p.Gln603His) n.479-22132C>A n.563+22188C>A c.1827G>T (p.Gln609His) | |
4 | g.47936892C= | CA1455551757 | CNGA1,NIPAL1 | c.1590G= (p.Gln530=) c.1602G= (p.Gln534=) c.1809G= (p.Gln603=) n.479-22132C= n.563+22188C= c.1827G= (p.Gln609=) | |
4 | g.47936892C>G | CA356825029 | CNGA1,NIPAL1 | c.1590G>C (p.Gln530His) c.1602G>C (p.Gln534His) c.1809G>C (p.Gln603His) n.479-22132C>G n.563+22188C>G c.1827G>C (p.Gln609His) | |
4 | g.47936892C>T | CA2911050 | CNGA1,NIPAL1 | c.1590G>A (p.Gln530=) c.1602G>A (p.Gln534=) c.1809G>A (p.Gln603=) n.479-22132C>T n.563+22188C>T c.1827G>A (p.Gln609=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.47936893T>A | CA356825032 | CNGA1,NIPAL1 | c.1589A>T (p.Gln530Leu) c.1601A>T (p.Gln534Leu) c.1808A>T (p.Gln603Leu) n.479-22131T>A n.563+22189T>A c.1826A>T (p.Gln609Leu) | |
4 | g.47936893T>C | CA356825034 | CNGA1,NIPAL1 | c.1589A>G (p.Gln530Arg) c.1601A>G (p.Gln534Arg) c.1808A>G (p.Gln603Arg) n.479-22131T>C n.563+22189T>C c.1826A>G (p.Gln609Arg) | |
4 | g.47936893T>G | CA356825035 | CNGA1,NIPAL1 | c.1589A>C (p.Gln530Pro) c.1601A>C (p.Gln534Pro) c.1808A>C (p.Gln603Pro) n.479-22131T>G n.563+22189T>G c.1826A>C (p.Gln609Pro) | |
4 | g.47936894G>A | CA356825038 | CNGA1,NIPAL1 | c.1588C>T (p.Gln530Ter) c.1600C>T (p.Gln534Ter) c.1807C>T (p.Gln603Ter) n.479-22130G>A n.563+22190G>A c.1825C>T (p.Gln609Ter) | |
4 | g.47936894G>C | CA356825039 | CNGA1,NIPAL1 | c.1588C>G (p.Gln530Glu) c.1600C>G (p.Gln534Glu) c.1807C>G (p.Gln603Glu) n.479-22130G>C n.563+22190G>C c.1825C>G (p.Gln609Glu) | |
4 | g.47936894G>T | CA356825041 | CNGA1,NIPAL1 | c.1588C>A (p.Gln530Lys) c.1600C>A (p.Gln534Lys) c.1807C>A (p.Gln603Lys) n.479-22130G>T n.563+22190G>T c.1825C>A (p.Gln609Lys) | |
4 | g.47936895A>C | CA439403787 | CNGA1,NIPAL1 | c.1587T>G (p.Thr529=) c.1599T>G (p.Thr533=) c.1806T>G (p.Thr602=) n.479-22129A>C n.563+22191A>C c.1824T>G (p.Thr608=) | |
4 | g.47936895A>G | CA439403788 | CNGA1,NIPAL1 | c.1587T>C (p.Thr529=) c.1599T>C (p.Thr533=) c.1806T>C (p.Thr602=) n.479-22129A>G n.563+22191A>G c.1824T>C (p.Thr608=) | |
4 | g.47936895A>T | CA439403789 | CNGA1,NIPAL1 | c.1587T>A (p.Thr529=) c.1599T>A (p.Thr533=) c.1806T>A (p.Thr602=) n.479-22129A>T n.563+22191A>T c.1824T>A (p.Thr608=) | |
4 | g.47936896G>A | CA356825048 | CNGA1,NIPAL1 | c.1586C>T (p.Thr529Ile) c.1598C>T (p.Thr533Ile) c.1805C>T (p.Thr602Ile) n.479-22128G>A n.563+22192G>A c.1823C>T (p.Thr608Ile) | |
4 | g.47936896G>C | CA356825046 | CNGA1,NIPAL1 | c.1586C>G (p.Thr529Ser) c.1598C>G (p.Thr533Ser) c.1805C>G (p.Thr602Ser) n.479-22128G>C n.563+22192G>C c.1823C>G (p.Thr608Ser) | |
4 | g.47936896G>T | CA356825044 | CNGA1,NIPAL1 | c.1586C>A (p.Thr529Asn) c.1598C>A (p.Thr533Asn) c.1805C>A (p.Thr602Asn) n.479-22128G>T n.563+22192G>T c.1823C>A (p.Thr608Asn) | |
4 | g.47936897T>A | CA356825051 | CNGA1,NIPAL1 | c.1585A>T (p.Thr529Ser) c.1597A>T (p.Thr533Ser) c.1804A>T (p.Thr602Ser) n.479-22127T>A n.563+22193T>A c.1822A>T (p.Thr608Ser) | |
4 | g.47936897T>C | CA356825053 | CNGA1,NIPAL1 | c.1585A>G (p.Thr529Ala) c.1597A>G (p.Thr533Ala) c.1804A>G (p.Thr602Ala) n.479-22127T>C n.563+22193T>C c.1822A>G (p.Thr608Ala) | gnomAD v4 |
4 | g.47936897T>G | CA356825054 | CNGA1,NIPAL1 | c.1585A>C (p.Thr529Pro) c.1597A>C (p.Thr533Pro) c.1804A>C (p.Thr602Pro) n.479-22127T>G n.563+22193T>G c.1822A>C (p.Thr608Pro) | |
4 | g.47936898G>A | CA439403790 | CNGA1,NIPAL1 | c.1584C>T (p.Val528=) c.1596C>T (p.Val532=) c.1803C>T (p.Val601=) n.479-22126G>A n.563+22194G>A c.1821C>T (p.Val607=) | |
4 | g.47936898G>C | CA439403792 | CNGA1,NIPAL1 | c.1584C>G (p.Val528=) c.1596C>G (p.Val532=) c.1803C>G (p.Val601=) n.479-22126G>C n.563+22194G>C c.1821C>G (p.Val607=) | |
4 | g.47936898G>T | CA439403791 | CNGA1,NIPAL1 | c.1584C>A (p.Val528=) c.1596C>A (p.Val532=) c.1803C>A (p.Val601=) n.479-22126G>T n.563+22194G>T c.1821C>A (p.Val607=) | |
4 | g.47936899A= | CA1455551758 | CNGA1,NIPAL1 | c.1583T= (p.Val528=) c.1595T= (p.Val532=) c.1802T= (p.Val601=) n.479-22125A= n.563+22195A= c.1820T= (p.Val607=) | |
4 | g.47936899A>C | CA356825057 | CNGA1,NIPAL1 | c.1583T>G (p.Val528Gly) c.1595T>G (p.Val532Gly) c.1802T>G (p.Val601Gly) n.479-22125A>C n.563+22195A>C c.1820T>G (p.Val607Gly) | |
4 | g.47936899A>G | CA356825059 | CNGA1,NIPAL1 | c.1583T>C (p.Val528Ala) c.1595T>C (p.Val532Ala) c.1802T>C (p.Val601Ala) n.479-22125A>G n.563+22195A>G c.1820T>C (p.Val607Ala) | |
4 | g.47936899A>T | CA2911051 | CNGA1,NIPAL1 | c.1583T>A (p.Val528Asp) c.1595T>A (p.Val532Asp) c.1802T>A (p.Val601Asp) n.479-22125A>T n.563+22195A>T c.1820T>A (p.Val607Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.47936900C>A | CA96688437 | CNGA1,NIPAL1 | c.1582G>T (p.Val528Phe) c.1594G>T (p.Val532Phe) c.1801G>T (p.Val601Phe) n.479-22124C>A n.563+22196C>A c.1819G>T (p.Val607Phe) | dbSNP gnomAD v4 |
4 | g.47936900C= | CA1455551759 | CNGA1,NIPAL1 | c.1582G= (p.Val528=) c.1594G= (p.Val532=) c.1801G= (p.Val601=) n.479-22124C= n.563+22196C= c.1819G= (p.Val607=) | |
4 | g.47936900C>G | CA356825065 | CNGA1,NIPAL1 | c.1582G>C (p.Val528Leu) c.1594G>C (p.Val532Leu) c.1801G>C (p.Val601Leu) n.479-22124C>G n.563+22196C>G c.1819G>C (p.Val607Leu) | |
4 | g.47936900C>T | CA96688450 | CNGA1,NIPAL1 | c.1582G>A (p.Val528Ile) c.1594G>A (p.Val532Ile) c.1801G>A (p.Val601Ile) n.479-22124C>T n.563+22196C>T c.1819G>A (p.Val607Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.47936901T>A | CA439403793 | CNGA1,NIPAL1 | c.1581A>T (p.Gly527=) c.1593A>T (p.Gly531=) c.1800A>T (p.Gly600=) n.479-22123T>A n.563+22197T>A c.1818A>T (p.Gly606=) | |
4 | g.47936901T>C | CA439403794 | CNGA1,NIPAL1 | c.1581A>G (p.Gly527=) c.1593A>G (p.Gly531=) c.1800A>G (p.Gly600=) n.479-22123T>C n.563+22197T>C c.1818A>G (p.Gly606=) | |
4 | g.47936901T>G | CA439403795 | CNGA1,NIPAL1 | c.1581A>C (p.Gly527=) c.1593A>C (p.Gly531=) c.1800A>C (p.Gly600=) n.479-22123T>G n.563+22197T>G c.1818A>C (p.Gly606=) | |
4 | g.47936902C>A | CA356825068 | CNGA1,NIPAL1 | c.1580G>T (p.Gly527Val) c.1592G>T (p.Gly531Val) c.1799G>T (p.Gly600Val) n.479-22122C>A n.563+22198C>A c.1817G>T (p.Gly606Val) | ClinVar dbSNP gnomAD v4 |
4 | g.47936902C= | CA1455551760 | CNGA1,NIPAL1 | c.1580G= (p.Gly527=) c.1592G= (p.Gly531=) c.1799G= (p.Gly600=) n.479-22122C= n.563+22198C= c.1817G= (p.Gly606=) | |
4 | g.47936902C>G | CA356825070 | CNGA1,NIPAL1 | c.1580G>C (p.Gly527Ala) c.1592G>C (p.Gly531Ala) c.1799G>C (p.Gly600Ala) n.479-22122C>G n.563+22198C>G c.1817G>C (p.Gly606Ala) | gnomAD v4 |
4 | g.47936902C>T | CA356825072 | CNGA1,NIPAL1 | c.1580G>A (p.Gly527Glu) c.1592G>A (p.Gly531Glu) c.1799G>A (p.Gly600Glu) n.479-22122C>T n.563+22198C>T c.1817G>A (p.Gly606Glu) | |
4 | g.47936903C>A | CA356825075 | CNGA1,NIPAL1 | c.1579G>T (p.Gly527Ter) c.1591G>T (p.Gly531Ter) c.1798G>T (p.Gly600Ter) n.479-22121C>A n.563+22199C>A c.1816G>T (p.Gly606Ter) | |
4 | g.47936903C= | CA1455551761 | CNGA1,NIPAL1 | c.1579G= (p.Gly527=) c.1591G= (p.Gly531=) c.1798G= (p.Gly600=) n.479-22121C= n.563+22199C= c.1816G= (p.Gly606=) | |
4 | g.47936903C>G | CA356825076 | CNGA1,NIPAL1 | c.1579G>C (p.Gly527Arg) c.1591G>C (p.Gly531Arg) c.1798G>C (p.Gly600Arg) n.479-22121C>G n.563+22199C>G c.1816G>C (p.Gly606Arg) | |
4 | g.47936903C>T | CA356825078 | CNGA1,NIPAL1 | c.1579G>A (p.Gly527Arg) c.1591G>A (p.Gly531Arg) c.1798G>A (p.Gly600Arg) n.479-22121C>T n.563+22199C>T c.1816G>A (p.Gly606Arg) | dbSNP |
4 | g.47936904A>C | CA356825080 | CNGA1,NIPAL1 | c.1578T>G (p.Asp526Glu) c.1590T>G (p.Asp530Glu) c.1797T>G (p.Asp599Glu) n.479-22120A>C n.563+22200A>C c.1815T>G (p.Asp605Glu) | |
4 | g.47936904A>G | CA439403796 | CNGA1,NIPAL1 | c.1578T>C (p.Asp526=) c.1590T>C (p.Asp530=) c.1797T>C (p.Asp599=) n.479-22120A>G n.563+22200A>G c.1815T>C (p.Asp605=) | |
4 | g.47936904A>T | CA356825082 | CNGA1,NIPAL1 | c.1578T>A (p.Asp526Glu) c.1590T>A (p.Asp530Glu) c.1797T>A (p.Asp599Glu) n.479-22120A>T n.563+22200A>T c.1815T>A (p.Asp605Glu) | |
4 | g.47936905T>A | CA356825085 | CNGA1,NIPAL1 | c.1577A>T (p.Asp526Val) c.1589A>T (p.Asp530Val) c.1796A>T (p.Asp599Val) n.479-22119T>A n.563+22201T>A c.1814A>T (p.Asp605Val) | |
4 | g.47936905T>C | CA356825086 | CNGA1,NIPAL1 | c.1577A>G (p.Asp526Gly) c.1589A>G (p.Asp530Gly) c.1796A>G (p.Asp599Gly) n.479-22119T>C n.563+22201T>C c.1814A>G (p.Asp605Gly) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.47936905T>G | CA356825089 | CNGA1,NIPAL1 | c.1577A>C (p.Asp526Ala) c.1589A>C (p.Asp530Ala) c.1796A>C (p.Asp599Ala) n.479-22119T>G n.563+22201T>G c.1814A>C (p.Asp605Ala) | |
4 | g.47936905T= | CA1455551762 | CNGA1,NIPAL1 | c.1577A= (p.Asp526=) c.1589A= (p.Asp530=) c.1796A= (p.Asp599=) n.479-22119T= n.563+22201T= c.1814A= (p.Asp605=) | |
4 | g.47936906C>A | CA356825091 | CNGA1,NIPAL1 | c.1576G>T (p.Asp526Tyr) c.1588G>T (p.Asp530Tyr) c.1795G>T (p.Asp599Tyr) n.479-22118C>A n.563+22202C>A c.1813G>T (p.Asp605Tyr) | |
4 | g.47936906C>G | CA356825095 | CNGA1,NIPAL1 | c.1576G>C (p.Asp526His) c.1588G>C (p.Asp530His) c.1795G>C (p.Asp599His) n.479-22118C>G n.563+22202C>G c.1813G>C (p.Asp605His) | |
4 | g.47936906C>T | CA356825093 | CNGA1,NIPAL1 | c.1576G>A (p.Asp526Asn) c.1588G>A (p.Asp530Asn) c.1795G>A (p.Asp599Asn) n.479-22118C>T n.563+22202C>T c.1813G>A (p.Asp605Asn) | |
4 | g.47936907A= | CA1455551763 | CNGA1,NIPAL1 | c.1575T= (p.Asp525=) c.1587T= (p.Asp529=) c.1794T= (p.Asp598=) n.479-22117A= n.563+22203A= c.1812T= (p.Asp604=) | |
4 | g.47936907A>C | CA356825097 | CNGA1,NIPAL1 | c.1575T>G (p.Asp525Glu) c.1587T>G (p.Asp529Glu) c.1794T>G (p.Asp598Glu) n.479-22117A>C n.563+22203A>C c.1812T>G (p.Asp604Glu) | |
4 | g.47936907A>G | CA439403797 | CNGA1,NIPAL1 | c.1575T>C (p.Asp525=) c.1587T>C (p.Asp529=) c.1794T>C (p.Asp598=) n.479-22117A>G n.563+22203A>G c.1812T>C (p.Asp604=) | ClinVar dbSNP gnomAD v4 |
4 | g.47936907A>T | CA356825098 | CNGA1,NIPAL1 | c.1575T>A (p.Asp525Glu) c.1587T>A (p.Asp529Glu) c.1794T>A (p.Asp598Glu) n.479-22117A>T n.563+22203A>T c.1812T>A (p.Asp604Glu) | |
4 | g.47936908T>A | CA356825100 | CNGA1,NIPAL1 | c.1574A>T (p.Asp525Val) c.1586A>T (p.Asp529Val) c.1793A>T (p.Asp598Val) n.479-22116T>A n.563+22204T>A c.1811A>T (p.Asp604Val) | |
4 | g.47936908T>C | CA356825102 | CNGA1,NIPAL1 | c.1574A>G (p.Asp525Gly) c.1586A>G (p.Asp529Gly) c.1793A>G (p.Asp598Gly) n.479-22116T>C n.563+22204T>C c.1811A>G (p.Asp604Gly) | |
4 | g.47936908T>G | CA356825104 | CNGA1,NIPAL1 | c.1574A>C (p.Asp525Ala) c.1586A>C (p.Asp529Ala) c.1793A>C (p.Asp598Ala) n.479-22116T>G n.563+22204T>G c.1811A>C (p.Asp604Ala) | |
4 | g.47936909C>A | CA356825107 | CNGA1,NIPAL1 | c.1573G>T (p.Asp525Tyr) c.1585G>T (p.Asp529Tyr) c.1792G>T (p.Asp598Tyr) n.479-22115C>A n.563+22205C>A c.1810G>T (p.Asp604Tyr) | |
4 | g.47936909C>G | CA356825109 | CNGA1,NIPAL1 | c.1573G>C (p.Asp525His) c.1585G>C (p.Asp529His) c.1792G>C (p.Asp598His) n.479-22115C>G n.563+22205C>G c.1810G>C (p.Asp604His) | |
4 | g.47936909C>T | CA356825110 | CNGA1,NIPAL1 | c.1573G>A (p.Asp525Asn) c.1585G>A (p.Asp529Asn) c.1792G>A (p.Asp598Asn) n.479-22115C>T n.563+22205C>T c.1810G>A (p.Asp604Asn) | ClinVar |
4 | g.47936910T>A | CA439403798 | CNGA1,NIPAL1 | c.1572A>T (p.Ala524=) c.1584A>T (p.Ala528=) c.1791A>T (p.Ala597=) n.479-22114T>A n.563+22206T>A c.1809A>T (p.Ala603=) | |
4 | g.47936910T>C | CA439403799 | CNGA1,NIPAL1 | c.1572A>G (p.Ala524=) c.1584A>G (p.Ala528=) c.1791A>G (p.Ala597=) n.479-22114T>C n.563+22206T>C c.1809A>G (p.Ala603=) | |
4 | g.47936910T>G | CA439403800 | CNGA1,NIPAL1 | c.1572A>C (p.Ala524=) c.1584A>C (p.Ala528=) c.1791A>C (p.Ala597=) n.479-22114T>G n.563+22206T>G c.1809A>C (p.Ala603=) | dbSNP |
4 | g.47936911G>A | CA356825114 | CNGA1,NIPAL1 | c.1571C>T (p.Ala524Val) c.1583C>T (p.Ala528Val) c.1790C>T (p.Ala597Val) n.479-22113G>A n.563+22207G>A c.1808C>T (p.Ala603Val) | dbSNP gnomAD v2 |
4 | g.47936911G>C | CA356825116 | CNGA1,NIPAL1 | c.1571C>G (p.Ala524Gly) c.1583C>G (p.Ala528Gly) c.1790C>G (p.Ala597Gly) n.479-22113G>C n.563+22207G>C c.1808C>G (p.Ala603Gly) | |
4 | g.47936911G= | CA1455551764 | CNGA1,NIPAL1 | c.1571C= (p.Ala524=) c.1583C= (p.Ala528=) c.1790C= (p.Ala597=) n.479-22113G= n.563+22207G= c.1808C= (p.Ala603=) | |
4 | g.47936911G>T | CA356825117 | CNGA1,NIPAL1 | c.1571C>A (p.Ala524Glu) c.1583C>A (p.Ala528Glu) c.1790C>A (p.Ala597Glu) n.479-22113G>T n.563+22207G>T c.1808C>A (p.Ala603Glu) | gnomAD v4 COSMIC |
4 | g.47936912C>A | CA2911052 | CNGA1,NIPAL1 | c.1570G>T (p.Ala524Ser) c.1582G>T (p.Ala528Ser) c.1789G>T (p.Ala597Ser) n.479-22112C>A n.563+22208C>A c.1807G>T (p.Ala603Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.47936912C= | CA1455551765 | CNGA1,NIPAL1 | c.1570G= (p.Ala524=) c.1582G= (p.Ala528=) c.1789G= (p.Ala597=) n.479-22112C= n.563+22208C= c.1807G= (p.Ala603=) | |
4 | g.47936912C>G | CA356825120 | CNGA1,NIPAL1 | c.1570G>C (p.Ala524Pro) c.1582G>C (p.Ala528Pro) c.1789G>C (p.Ala597Pro) n.479-22112C>G n.563+22208C>G c.1807G>C (p.Ala603Pro) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.47936912C>T | CA356825119 | CNGA1,NIPAL1 | c.1570G>A (p.Ala524Thr) c.1582G>A (p.Ala528Thr) c.1789G>A (p.Ala597Thr) n.479-22112C>T n.563+22208C>T c.1807G>A (p.Ala603Thr) | |
4 | g.47936913C>A | CA439403803 | CNGA1,NIPAL1 | c.1569G>T (p.Val523=) c.1581G>T (p.Val527=) c.1788G>T (p.Val596=) n.479-22111C>A n.563+22209C>A c.1806G>T (p.Val602=) | |
4 | g.47936913C>G | CA439403801 | CNGA1,NIPAL1 | c.1569G>C (p.Val523=) c.1581G>C (p.Val527=) c.1788G>C (p.Val596=) n.479-22111C>G n.563+22209C>G c.1806G>C (p.Val602=) | |
4 | g.47936913C>T | CA439403802 | CNGA1,NIPAL1 | c.1569G>A (p.Val523=) c.1581G>A (p.Val527=) c.1788G>A (p.Val596=) n.479-22111C>T n.563+22209C>T c.1806G>A (p.Val602=) | |
4 | g.47936914A>C | CA356825123 | CNGA1,NIPAL1 | c.1568T>G (p.Val523Gly) c.1580T>G (p.Val527Gly) c.1787T>G (p.Val596Gly) n.479-22110A>C n.563+22210A>C c.1805T>G (p.Val602Gly) | |
4 | g.47936914A>G | CA356825125 | CNGA1,NIPAL1 | c.1568T>C (p.Val523Ala) c.1580T>C (p.Val527Ala) c.1787T>C (p.Val596Ala) n.479-22110A>G n.563+22210A>G c.1805T>C (p.Val602Ala) | |
4 | g.47936914A>T | CA356825127 | CNGA1,NIPAL1 | c.1568T>A (p.Val523Glu) c.1580T>A (p.Val527Glu) c.1787T>A (p.Val596Glu) n.479-22110A>T n.563+22210A>T c.1805T>A (p.Val602Glu) | |
4 | g.47936915C>A | CA356825129 | CNGA1,NIPAL1 | c.1567G>T (p.Val523Leu) c.1579G>T (p.Val527Leu) c.1786G>T (p.Val596Leu) n.479-22109C>A n.563+22211C>A c.1804G>T (p.Val602Leu) | |
4 | g.47936915C>G | CA356825132 | CNGA1,NIPAL1 | c.1567G>C (p.Val523Leu) c.1579G>C (p.Val527Leu) c.1786G>C (p.Val596Leu) n.479-22109C>G n.563+22211C>G c.1804G>C (p.Val602Leu) | |
4 | g.47936915C>T | CA356825133 | CNGA1,NIPAL1 | c.1567G>A (p.Val523Met) c.1579G>A (p.Val527Met) c.1786G>A (p.Val596Met) n.479-22109C>T n.563+22211C>T c.1804G>A (p.Val602Met) | |
4 | g.47936916C>A | CA439403804 | CNGA1,NIPAL1 | c.1566G>T (p.Val522=) c.1578G>T (p.Val526=) c.1785G>T (p.Val595=) n.479-22108C>A n.563+22212C>A c.1803G>T (p.Val601=) | |
4 | g.47936916C>G | CA439403805 | CNGA1,NIPAL1 | c.1566G>C (p.Val522=) c.1578G>C (p.Val526=) c.1785G>C (p.Val595=) n.479-22108C>G n.563+22212C>G c.1803G>C (p.Val601=) | |
4 | g.47936916C>T | CA439403806 | CNGA1,NIPAL1 | c.1566G>A (p.Val522=) c.1578G>A (p.Val526=) c.1785G>A (p.Val595=) n.479-22108C>T n.563+22212C>T c.1803G>A (p.Val601=) | |
4 | g.47936917A= | CA1455551766 | CNGA1,NIPAL1 | c.1565T= (p.Val522=) c.1577T= (p.Val526=) c.1784T= (p.Val595=) n.479-22107A= n.563+22213A= c.1802T= (p.Val601=) | |
4 | g.47936917A>C | CA356825136 | CNGA1,NIPAL1 | c.1565T>G (p.Val522Gly) c.1577T>G (p.Val526Gly) c.1784T>G (p.Val595Gly) n.479-22107A>C n.563+22213A>C c.1802T>G (p.Val601Gly) | |
4 | g.47936917A>G | CA356825138 | CNGA1,NIPAL1 | c.1565T>C (p.Val522Ala) c.1577T>C (p.Val526Ala) c.1784T>C (p.Val595Ala) n.479-22107A>G n.563+22213A>G c.1802T>C (p.Val601Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.47936917A>T | CA356825140 | CNGA1,NIPAL1 | c.1565T>A (p.Val522Glu) c.1577T>A (p.Val526Glu) c.1784T>A (p.Val595Glu) n.479-22107A>T n.563+22213A>T c.1802T>A (p.Val601Glu) | |
4 | g.47936918C>A | CA356825144 | CNGA1,NIPAL1 | c.1564G>T (p.Val522Leu) c.1576G>T (p.Val526Leu) c.1783G>T (p.Val595Leu) n.479-22106C>A n.563+22214C>A c.1801G>T (p.Val601Leu) | |
4 | g.47936918C= | CA1455551767 | CNGA1,NIPAL1 | c.1564G= (p.Val522=) c.1576G= (p.Val526=) c.1783G= (p.Val595=) n.479-22106C= n.563+22214C= c.1801G= (p.Val601=) | |
4 | g.47936918C>G | CA356825146 | CNGA1,NIPAL1 | c.1564G>C (p.Val522Leu) c.1576G>C (p.Val526Leu) c.1783G>C (p.Val595Leu) n.479-22106C>G n.563+22214C>G c.1801G>C (p.Val601Leu) | gnomAD v4 |
4 | g.47936918C>T | CA2911053 | CNGA1,NIPAL1 | c.1564G>A (p.Val522Met) c.1576G>A (p.Val526Met) c.1783G>A (p.Val595Met) n.479-22106C>T n.563+22214C>T c.1801G>A (p.Val601Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.47936919A>C | CA439403807 | CNGA1,NIPAL1 | c.1563T>G (p.Ala521=) c.1575T>G (p.Ala525=) c.1782T>G (p.Ala594=) n.479-22105A>C n.563+22215A>C c.1800T>G (p.Ala600=) | |
4 | g.47936919A>G | CA439403808 | CNGA1,NIPAL1 | c.1563T>C (p.Ala521=) c.1575T>C (p.Ala525=) c.1782T>C (p.Ala594=) n.479-22105A>G n.563+22215A>G c.1800T>C (p.Ala600=) | gnomAD v4 |
4 | g.47936919A>T | CA439403809 | CNGA1,NIPAL1 | c.1563T>A (p.Ala521=) c.1575T>A (p.Ala525=) c.1782T>A (p.Ala594=) n.479-22105A>T n.563+22215A>T c.1800T>A (p.Ala600=) | |
4 | g.47936920G>A | CA356825154 | CNGA1,NIPAL1 | c.1562C>T (p.Ala521Val) c.1574C>T (p.Ala525Val) c.1781C>T (p.Ala594Val) n.479-22104G>A n.563+22216G>A c.1799C>T (p.Ala600Val) | |
4 | g.47936920G>C | CA356825152 | CNGA1,NIPAL1 | c.1562C>G (p.Ala521Gly) c.1574C>G (p.Ala525Gly) c.1781C>G (p.Ala594Gly) n.479-22104G>C n.563+22216G>C c.1799C>G (p.Ala600Gly) | |
4 | g.47936920G>T | CA356825150 | CNGA1,NIPAL1 | c.1562C>A (p.Ala521Asp) c.1574C>A (p.Ala525Asp) c.1781C>A (p.Ala594Asp) n.479-22104G>T n.563+22216G>T c.1799C>A (p.Ala600Asp) | |
4 | g.47936921C>A | CA356825157 | CNGA1,NIPAL1 | c.1561G>T (p.Ala521Ser) c.1573G>T (p.Ala525Ser) c.1780G>T (p.Ala594Ser) n.479-22103C>A n.563+22217C>A c.1798G>T (p.Ala600Ser) | gnomAD v4 |
4 | g.47936921C= | CA1455551768 | CNGA1,NIPAL1 | c.1561G= (p.Ala521=) c.1573G= (p.Ala525=) c.1780G= (p.Ala594=) n.479-22103C= n.563+22217C= c.1798G= (p.Ala600=) | |
4 | g.47936921C>G | CA356825155 | CNGA1,NIPAL1 | c.1561G>C (p.Ala521Pro) c.1573G>C (p.Ala525Pro) c.1780G>C (p.Ala594Pro) n.479-22103C>G n.563+22217C>G c.1798G>C (p.Ala600Pro) | |
4 | g.47936921C>T | CA2911054 | CNGA1,NIPAL1 | c.1561G>A (p.Ala521Thr) c.1573G>A (p.Ala525Thr) c.1780G>A (p.Ala594Thr) n.479-22103C>T n.563+22217C>T c.1798G>A (p.Ala600Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.47936921_47936922delinsCG | CA1455551769 | CNGA1,NIPAL1 | c.1560_1561delinsCG (p.Leu520=) c.1572_1573delinsCG (p.Leu524=) c.1779_1780delinsCG (p.Leu593=) n.479-22103_479-22102delinsCG n.563+22217_563+22218delinsCG c.1797_1798delinsCG (p.Leu599=) | |
4 | g.47936922del | CA1061983619 | CNGA1,NIPAL1 | c.1560del (p.Ala521LeufsTer14) c.1572del (p.Ala525LeufsTer14) c.1779del (p.Ala594LeufsTer14) n.479-22102del n.563+22218del c.1797del (p.Ala600LeufsTer14) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
4 | g.47936922G>A | CA10604421 | CNGA1,NIPAL1 | c.1560C>T (p.Leu520=) c.1572C>T (p.Leu524=) c.1779C>T (p.Leu593=) n.479-22102G>A n.563+22218G>A c.1797C>T (p.Leu599=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
4 | g.47936922G>C | CA439403810 | CNGA1,NIPAL1 | c.1560C>G (p.Leu520=) c.1572C>G (p.Leu524=) c.1779C>G (p.Leu593=) n.479-22102G>C n.563+22218G>C c.1797C>G (p.Leu599=) | |
4 | g.47936922G= | CA1455551770 | CNGA1,NIPAL1 | c.1560C= (p.Leu520=) c.1572C= (p.Leu524=) c.1779C= (p.Leu593=) n.479-22102G= n.563+22218G= c.1797C= (p.Leu599=) | |
4 | g.47936922G>T | CA2911055 | CNGA1,NIPAL1 | c.1560C>A (p.Leu520=) c.1572C>A (p.Leu524=) c.1779C>A (p.Leu593=) n.479-22102G>T n.563+22218G>T c.1797C>A (p.Leu599=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.47936923A>C | CA356825163 | CNGA1,NIPAL1 | c.1559T>G (p.Leu520Arg) c.1571T>G (p.Leu524Arg) c.1778T>G (p.Leu593Arg) n.479-22101A>C n.563+22219A>C c.1796T>G (p.Leu599Arg) | |
4 | g.47936923A>G | CA356825165 | CNGA1,NIPAL1 | c.1559T>C (p.Leu520Pro) c.1571T>C (p.Leu524Pro) c.1778T>C (p.Leu593Pro) n.479-22101A>G n.563+22219A>G c.1796T>C (p.Leu599Pro) | |
4 | g.47936923A>T | CA356825166 | CNGA1,NIPAL1 | c.1559T>A (p.Leu520His) c.1571T>A (p.Leu524His) c.1778T>A (p.Leu593His) n.479-22101A>T n.563+22219A>T c.1796T>A (p.Leu599His) | |
4 | g.47936924G>A | CA356825170 | CNGA1,NIPAL1 | c.1558C>T (p.Leu520Phe) c.1570C>T (p.Leu524Phe) c.1777C>T (p.Leu593Phe) n.479-22100G>A n.563+22220G>A c.1795C>T (p.Leu599Phe) | |
4 | g.47936924G>C | CA2911056 | CNGA1,NIPAL1 | c.1558C>G (p.Leu520Val) c.1570C>G (p.Leu524Val) c.1777C>G (p.Leu593Val) n.479-22100G>C n.563+22220G>C c.1795C>G (p.Leu599Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.47936924G= | CA1455551771 | CNGA1,NIPAL1 | c.1558C= (p.Leu520=) c.1570C= (p.Leu524=) c.1777C= (p.Leu593=) n.479-22100G= n.563+22220G= c.1795C= (p.Leu599=) | |
4 | g.47936924G>T | CA356825174 | CNGA1,NIPAL1 | c.1558C>A (p.Leu520Ile) c.1570C>A (p.Leu524Ile) c.1777C>A (p.Leu593Ile) n.479-22100G>T n.563+22220G>T c.1795C>A (p.Leu599Ile) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.47936925T>A | CA356825177 | CNGA1,NIPAL1 | c.1557A>T (p.Lys519Asn) c.1569A>T (p.Lys523Asn) c.1776A>T (p.Lys592Asn) n.479-22099T>A n.563+22221T>A c.1794A>T (p.Lys598Asn) | |
4 | g.47936925T>C | CA439403811 | CNGA1,NIPAL1 | c.1557A>G (p.Lys519=) c.1569A>G (p.Lys523=) c.1776A>G (p.Lys592=) n.479-22099T>C n.563+22221T>C c.1794A>G (p.Lys598=) | gnomAD v4 |
4 | g.47936925T>G | CA356825180 | CNGA1,NIPAL1 | c.1557A>C (p.Lys519Asn) c.1569A>C (p.Lys523Asn) c.1776A>C (p.Lys592Asn) n.479-22099T>G n.563+22221T>G c.1794A>C (p.Lys598Asn) | |
4 | g.47936927del | CA2499217219 | CNGA1,NIPAL1 | c.1557del (p.Lys519AsnfsTer16) c.1569del (p.Lys523AsnfsTer16) c.1776del (p.Lys592AsnfsTer16) n.479-22097del n.563+22223del c.1794del (p.Lys598AsnfsTer16) | ClinVar dbSNP |
4 | g.47936926T>A | CA356825184 | CNGA1,NIPAL1 | c.1556A>T (p.Lys519Ile) c.1568A>T (p.Lys523Ile) c.1775A>T (p.Lys592Ile) n.479-22098T>A n.563+22222T>A c.1793A>T (p.Lys598Ile) | |
4 | g.47936926T>C | CA356825187 | CNGA1,NIPAL1 | c.1556A>G (p.Lys519Arg) c.1568A>G (p.Lys523Arg) c.1775A>G (p.Lys592Arg) n.479-22098T>C n.563+22222T>C c.1793A>G (p.Lys598Arg) | ClinVar gnomAD v4 |
4 | g.47936926T>G | CA356825190 | CNGA1,NIPAL1 | c.1556A>C (p.Lys519Thr) c.1568A>C (p.Lys523Thr) c.1775A>C (p.Lys592Thr) n.479-22098T>G n.563+22222T>G c.1793A>C (p.Lys598Thr) | |
4 | g.47936927T>A | CA356825199 | CNGA1,NIPAL1 | c.1555A>T (p.Lys519Ter) c.1567A>T (p.Lys523Ter) c.1774A>T (p.Lys592Ter) n.479-22097T>A n.563+22223T>A c.1792A>T (p.Lys598Ter) | |
4 | g.47936927T>C | CA356825193 | CNGA1,NIPAL1 | c.1555A>G (p.Lys519Glu) c.1567A>G (p.Lys523Glu) c.1774A>G (p.Lys592Glu) n.479-22097T>C n.563+22223T>C c.1792A>G (p.Lys598Glu) | gnomAD v4 |
4 | g.47936927T>G | CA356825196 | CNGA1,NIPAL1 | c.1555A>C (p.Lys519Gln) c.1567A>C (p.Lys523Gln) c.1774A>C (p.Lys592Gln) n.479-22097T>G n.563+22223T>G c.1792A>C (p.Lys598Gln) | |
4 | g.47936928G>A | CA439403812 | CNGA1,NIPAL1 | c.1554C>T (p.Gly518=) c.1566C>T (p.Gly522=) c.1773C>T (p.Gly591=) n.479-22096G>A n.563+22224G>A c.1791C>T (p.Gly597=) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.47936928G>C | CA439403813 | CNGA1,NIPAL1 | c.1554C>G (p.Gly518=) c.1566C>G (p.Gly522=) c.1773C>G (p.Gly591=) n.479-22096G>C n.563+22224G>C c.1791C>G (p.Gly597=) | |
4 | g.47936928G= | CA1455551772 | CNGA1,NIPAL1 | c.1554C= (p.Gly518=) c.1566C= (p.Gly522=) c.1773C= (p.Gly591=) n.479-22096G= n.563+22224G= c.1791C= (p.Gly597=) | |
4 | g.47936928G>T | CA439403814 | CNGA1,NIPAL1 | c.1554C>A (p.Gly518=) c.1566C>A (p.Gly522=) c.1773C>A (p.Gly591=) n.479-22096G>T n.563+22224G>T c.1791C>A (p.Gly597=) | gnomAD v4 |
4 | g.47936929C>A | CA356825203 | CNGA1,NIPAL1 | c.1553G>T (p.Gly518Val) c.1565G>T (p.Gly522Val) c.1772G>T (p.Gly591Val) n.479-22095C>A n.563+22225C>A c.1790G>T (p.Gly597Val) | |
4 | g.47936929C>G | CA356825204 | CNGA1,NIPAL1 | c.1553G>C (p.Gly518Ala) c.1565G>C (p.Gly522Ala) c.1772G>C (p.Gly591Ala) n.479-22095C>G n.563+22225C>G c.1790G>C (p.Gly597Ala) | |
4 | g.47936929C>T | CA356825208 | CNGA1,NIPAL1 | c.1553G>A (p.Gly518Asp) c.1565G>A (p.Gly522Asp) c.1772G>A (p.Gly591Asp) n.479-22095C>T n.563+22225C>T c.1790G>A (p.Gly597Asp) | gnomAD v4 |
4 | g.47936930C>A | CA356825211 | CNGA1,NIPAL1 | c.1552G>T (p.Gly518Cys) c.1564G>T (p.Gly522Cys) c.1771G>T (p.Gly591Cys) n.479-22094C>A n.563+22226C>A c.1789G>T (p.Gly597Cys) | |
4 | g.47936930C>G | CA356825214 | CNGA1,NIPAL1 | c.1552G>C (p.Gly518Arg) c.1564G>C (p.Gly522Arg) c.1771G>C (p.Gly591Arg) n.479-22094C>G n.563+22226C>G c.1789G>C (p.Gly597Arg) | |
4 | g.47936930C>T | CA356825216 | CNGA1,NIPAL1 | c.1552G>A (p.Gly518Ser) c.1564G>A (p.Gly522Ser) c.1771G>A (p.Gly591Ser) n.479-22094C>T n.563+22226C>T c.1789G>A (p.Gly597Ser) | |
4 | g.47936931T>A | CA356825219 | CNGA1,NIPAL1 | c.1551A>T (p.Glu517Asp) c.1563A>T (p.Glu521Asp) c.1770A>T (p.Glu590Asp) n.479-22093T>A n.563+22227T>A c.1788A>T (p.Glu596Asp) | |
4 | g.47936931T>C | CA439403815 | CNGA1,NIPAL1 | c.1551A>G (p.Glu517=) c.1563A>G (p.Glu521=) c.1770A>G (p.Glu590=) n.479-22093T>C n.563+22227T>C c.1788A>G (p.Glu596=) | |
4 | g.47936931T>G | CA356825222 | CNGA1,NIPAL1 | c.1551A>C (p.Glu517Asp) c.1563A>C (p.Glu521Asp) c.1770A>C (p.Glu590Asp) n.479-22093T>G n.563+22227T>G c.1788A>C (p.Glu596Asp) | |
4 | g.47936932del | CA2670552347 | CNGA1,NIPAL1 | c.1551del (p.Gly518AlafsTer17) c.1563del (p.Gly522AlafsTer17) c.1770del (p.Gly591AlafsTer17) n.479-22092del n.563+22228del c.1788del (p.Gly597AlafsTer17) | gnomAD v4 |
4 | g.47936932T>A | CA356825225 | CNGA1,NIPAL1 | c.1550A>T (p.Glu517Val) c.1562A>T (p.Glu521Val) c.1769A>T (p.Glu590Val) n.479-22092T>A n.563+22228T>A c.1787A>T (p.Glu596Val) | |
4 | g.47936932T>C | CA356825228 | CNGA1,NIPAL1 | c.1550A>G (p.Glu517Gly) c.1562A>G (p.Glu521Gly) c.1769A>G (p.Glu590Gly) n.479-22092T>C n.563+22228T>C c.1787A>G (p.Glu596Gly) | |
4 | g.47936932T>G | CA356825231 | CNGA1,NIPAL1 | c.1550A>C (p.Glu517Ala) c.1562A>C (p.Glu521Ala) c.1769A>C (p.Glu590Ala) n.479-22092T>G n.563+22228T>G c.1787A>C (p.Glu596Ala) | |
4 | g.47936933C>A | CA356825239 | CNGA1,NIPAL1 | c.1549G>T (p.Glu517Ter) c.1561G>T (p.Glu521Ter) c.1768G>T (p.Glu590Ter) n.479-22091C>A n.563+22229C>A c.1786G>T (p.Glu596Ter) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.47936933C= | CA1455551773 | CNGA1,NIPAL1 | c.1549G= (p.Glu517=) c.1561G= (p.Glu521=) c.1768G= (p.Glu590=) n.479-22091C= n.563+22229C= c.1786G= (p.Glu596=) | |
4 | g.47936933C>G | CA356825237 | CNGA1,NIPAL1 | c.1549G>C (p.Glu517Gln) c.1561G>C (p.Glu521Gln) c.1768G>C (p.Glu590Gln) n.479-22091C>G n.563+22229C>G c.1786G>C (p.Glu596Gln) | |
4 | g.47936933C>T | CA356825235 | CNGA1,NIPAL1 | c.1549G>A (p.Glu517Lys) c.1561G>A (p.Glu521Lys) c.1768G>A (p.Glu590Lys) n.479-22091C>T n.563+22229C>T c.1786G>A (p.Glu596Lys) | |
4 | g.47936934C>A | CA356825244 | CNGA1,NIPAL1 | c.1548G>T (p.Lys516Asn) c.1560G>T (p.Lys520Asn) c.1767G>T (p.Lys589Asn) n.479-22090C>A n.563+22230C>A c.1785G>T (p.Lys595Asn) | |
4 | g.47936934C= | CA1455551774 | CNGA1,NIPAL1 | c.1548G= (p.Lys516=) c.1560G= (p.Lys520=) c.1767G= (p.Lys589=) n.479-22090C= n.563+22230C= c.1785G= (p.Lys595=) | |
4 | g.47936934C>G | CA356825246 | CNGA1,NIPAL1 | c.1548G>C (p.Lys516Asn) c.1560G>C (p.Lys520Asn) c.1767G>C (p.Lys589Asn) n.479-22090C>G n.563+22230C>G c.1785G>C (p.Lys595Asn) | |
4 | g.47936934C>T | CA2911057 | CNGA1,NIPAL1 | c.1548G>A (p.Lys516=) c.1560G>A (p.Lys520=) c.1767G>A (p.Lys589=) n.479-22090C>T n.563+22230C>T c.1785G>A (p.Lys595=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.47936935T>A | CA356825252 | CNGA1,NIPAL1 | c.1547A>T (p.Lys516Met) c.1559A>T (p.Lys520Met) c.1766A>T (p.Lys589Met) n.479-22089T>A n.563+22231T>A c.1784A>T (p.Lys595Met) | gnomAD v4 |
4 | g.47936935T>C | CA356825254 | CNGA1,NIPAL1 | c.1547A>G (p.Lys516Arg) c.1559A>G (p.Lys520Arg) c.1766A>G (p.Lys589Arg) n.479-22089T>C n.563+22231T>C c.1784A>G (p.Lys595Arg) | |
4 | g.47936935T>G | CA356825257 | CNGA1,NIPAL1 | c.1547A>C (p.Lys516Thr) c.1559A>C (p.Lys520Thr) c.1766A>C (p.Lys589Thr) n.479-22089T>G n.563+22231T>G c.1784A>C (p.Lys595Thr) | |
4 | g.47936936T>A | CA356825262 | CNGA1,NIPAL1 | c.1546A>T (p.Lys516Ter) c.1558A>T (p.Lys520Ter) c.1765A>T (p.Lys589Ter) n.479-22088T>A n.563+22232T>A c.1783A>T (p.Lys595Ter) | |
4 | g.47936936T>C | CA356825263 | CNGA1,NIPAL1 | c.1546A>G (p.Lys516Glu) c.1558A>G (p.Lys520Glu) c.1765A>G (p.Lys589Glu) n.479-22088T>C n.563+22232T>C c.1783A>G (p.Lys595Glu) | gnomAD v4 |
4 | g.47936936T>G | CA356825266 | CNGA1,NIPAL1 | c.1546A>C (p.Lys516Gln) c.1558A>C (p.Lys520Gln) c.1765A>C (p.Lys589Gln) n.479-22088T>G n.563+22232T>G c.1783A>C (p.Lys595Gln) | |
4 | g.47936937G>A | CA439403816 | CNGA1,NIPAL1 | c.1545C>T (p.Ile515=) c.1557C>T (p.Ile519=) c.1764C>T (p.Ile588=) n.479-22087G>A n.563+22233G>A c.1782C>T (p.Ile594=) | |
4 | g.47936937G>C | CA356825269 | CNGA1,NIPAL1 | c.1545C>G (p.Ile515Met) c.1557C>G (p.Ile519Met) c.1764C>G (p.Ile588Met) n.479-22087G>C n.563+22233G>C c.1782C>G (p.Ile594Met) | |
4 | g.47936937G>T | CA439403817 | CNGA1,NIPAL1 | c.1545C>A (p.Ile515=) c.1557C>A (p.Ile519=) c.1764C>A (p.Ile588=) n.479-22087G>T n.563+22233G>T c.1782C>A (p.Ile594=) | |
4 | g.47936938A= | CA1455551775 | CNGA1,NIPAL1 | c.1544T= (p.Ile515=) c.1556T= (p.Ile519=) c.1763T= (p.Ile588=) n.479-22086A= n.563+22234A= c.1781T= (p.Ile594=) | |
4 | g.47936938A>C | CA356825272 | CNGA1,NIPAL1 | c.1544T>G (p.Ile515Ser) c.1556T>G (p.Ile519Ser) c.1763T>G (p.Ile588Ser) n.479-22086A>C n.563+22234A>C c.1781T>G (p.Ile594Ser) | |
4 | g.47936938A>G | CA2911058 | CNGA1,NIPAL1 | c.1544T>C (p.Ile515Thr) c.1556T>C (p.Ile519Thr) c.1763T>C (p.Ile588Thr) n.479-22086A>G n.563+22234A>G c.1781T>C (p.Ile594Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.47936938A>T | CA356825274 | CNGA1,NIPAL1 | c.1544T>A (p.Ile515Asn) c.1556T>A (p.Ile519Asn) c.1763T>A (p.Ile588Asn) n.479-22086A>T n.563+22234A>T c.1781T>A (p.Ile594Asn) | |
4 | g.47936939T>A | CA356825277 | CNGA1,NIPAL1 | c.1543A>T (p.Ile515Phe) c.1555A>T (p.Ile519Phe) c.1762A>T (p.Ile588Phe) n.479-22085T>A n.563+22235T>A c.1780A>T (p.Ile594Phe) | |
4 | g.47936939T>C | CA356825275 | CNGA1,NIPAL1 | c.1543A>G (p.Ile515Val) c.1555A>G (p.Ile519Val) c.1762A>G (p.Ile588Val) n.479-22085T>C n.563+22235T>C c.1780A>G (p.Ile594Val) | |
4 | g.47936939T>G | CA356825276 | CNGA1,NIPAL1 | c.1543A>C (p.Ile515Leu) c.1555A>C (p.Ile519Leu) c.1762A>C (p.Ile588Leu) n.479-22085T>G n.563+22235T>G c.1780A>C (p.Ile594Leu) | |
4 | g.47936940A= | CA1455551776 | CNGA1,NIPAL1 | c.1542T= (p.Ile514=) c.1554T= (p.Ile518=) c.1761T= (p.Ile587=) n.479-22084A= n.563+22236A= c.1779T= (p.Ile593=) | |
4 | g.47936940A>C | CA356825279 | CNGA1,NIPAL1 | c.1542T>G (p.Ile514Met) c.1554T>G (p.Ile518Met) c.1761T>G (p.Ile587Met) n.479-22084A>C n.563+22236A>C c.1779T>G (p.Ile593Met) | |
4 | g.47936940A>G | CA439403818 | CNGA1,NIPAL1 | c.1542T>C (p.Ile514=) c.1554T>C (p.Ile518=) c.1761T>C (p.Ile587=) n.479-22084A>G n.563+22236A>G c.1779T>C (p.Ile593=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
4 | g.47936940A>T | CA439403819 | CNGA1,NIPAL1 | c.1542T>A (p.Ile514=) c.1554T>A (p.Ile518=) c.1761T>A (p.Ile587=) n.479-22084A>T n.563+22236A>T c.1779T>A (p.Ile593=) | |
4 | g.47936941A>C | CA356825281 | CNGA1,NIPAL1 | c.1541T>G (p.Ile514Ser) c.1553T>G (p.Ile518Ser) c.1760T>G (p.Ile587Ser) n.479-22083A>C n.563+22237A>C c.1778T>G (p.Ile593Ser) | gnomAD v4 |
4 | g.47936941A>G | CA356825282 | CNGA1,NIPAL1 | c.1541T>C (p.Ile514Thr) c.1553T>C (p.Ile518Thr) c.1760T>C (p.Ile587Thr) n.479-22083A>G n.563+22237A>G c.1778T>C (p.Ile593Thr) | |
4 | g.47936941A>T | CA356825284 | CNGA1,NIPAL1 | c.1541T>A (p.Ile514Asn) c.1553T>A (p.Ile518Asn) c.1760T>A (p.Ile587Asn) n.479-22083A>T n.563+22237A>T c.1778T>A (p.Ile593Asn) | |
4 | g.47936942T>A | CA356825287 | CNGA1,NIPAL1 | c.1540A>T (p.Ile514Phe) c.1552A>T (p.Ile518Phe) c.1759A>T (p.Ile587Phe) n.479-22082T>A n.563+22238T>A c.1777A>T (p.Ile593Phe) | |
4 | g.47936942T>C | CA356825288 | CNGA1,NIPAL1 | c.1540A>G (p.Ile514Val) c.1552A>G (p.Ile518Val) c.1759A>G (p.Ile587Val) n.479-22082T>C n.563+22238T>C c.1777A>G (p.Ile593Val) | |
4 | g.47936942T>G | CA356825290 | CNGA1,NIPAL1 | c.1540A>C (p.Ile514Leu) c.1552A>C (p.Ile518Leu) c.1759A>C (p.Ile587Leu) n.479-22082T>G n.563+22238T>G c.1777A>C (p.Ile593Leu) | |
4 | g.47936943G>A | CA439403822 | CNGA1,NIPAL1 | c.1539C>T (p.Tyr513=) c.1551C>T (p.Tyr517=) c.1758C>T (p.Tyr586=) n.479-22081G>A n.563+22239G>A c.1776C>T (p.Tyr592=) | |
4 | g.47936943G>C | CA356825292 | CNGA1,NIPAL1 | c.1539C>G (p.Tyr513Ter) c.1551C>G (p.Tyr517Ter) c.1758C>G (p.Tyr586Ter) n.479-22081G>C n.563+22239G>C c.1776C>G (p.Tyr592Ter) | |
4 | g.47936943G>T | CA356825294 | CNGA1,NIPAL1 | c.1539C>A (p.Tyr513Ter) c.1551C>A (p.Tyr517Ter) c.1758C>A (p.Tyr586Ter) n.479-22081G>T n.563+22239G>T c.1776C>A (p.Tyr592Ter) | |
4 | g.47936944T>A | CA356825297 | CNGA1,NIPAL1 | c.1538A>T (p.Tyr513Phe) c.1550A>T (p.Tyr517Phe) c.1757A>T (p.Tyr586Phe) n.479-22080T>A n.563+22240T>A c.1775A>T (p.Tyr592Phe) | |
4 | g.47936944T>C | CA356825298 | CNGA1,NIPAL1 | c.1538A>G (p.Tyr513Cys) c.1550A>G (p.Tyr517Cys) c.1757A>G (p.Tyr586Cys) n.479-22080T>C n.563+22240T>C c.1775A>G (p.Tyr592Cys) | gnomAD v4 |
4 | g.47936944T>G | CA356825300 | CNGA1,NIPAL1 | c.1538A>C (p.Tyr513Ser) c.1550A>C (p.Tyr517Ser) c.1757A>C (p.Tyr586Ser) n.479-22080T>G n.563+22240T>G c.1775A>C (p.Tyr592Ser) | |
4 | g.47936945A>C | CA356825306 | CNGA1,NIPAL1 | c.1537T>G (p.Tyr513Asp) c.1549T>G (p.Tyr517Asp) c.1756T>G (p.Tyr586Asp) n.479-22079A>C n.563+22241A>C c.1774T>G (p.Tyr592Asp) | |
4 | g.47936945A>G | CA356825304 | CNGA1,NIPAL1 | c.1537T>C (p.Tyr513His) c.1549T>C (p.Tyr517His) c.1756T>C (p.Tyr586His) n.479-22079A>G n.563+22241A>G c.1774T>C (p.Tyr592His) | |
4 | g.47936945A>T | CA356825303 | CNGA1,NIPAL1 | c.1537T>A (p.Tyr513Asn) c.1549T>A (p.Tyr517Asn) c.1756T>A (p.Tyr586Asn) n.479-22079A>T n.563+22241A>T c.1774T>A (p.Tyr592Asn) | |
4 | g.47936946C>A | CA356825309 | CNGA1,NIPAL1 | c.1536G>T (p.Met512Ile) c.1548G>T (p.Met516Ile) c.1755G>T (p.Met585Ile) n.479-22078C>A n.563+22242C>A c.1773G>T (p.Met591Ile) | |
4 | g.47936946C>G | CA356825313 | CNGA1,NIPAL1 | c.1536G>C (p.Met512Ile) c.1548G>C (p.Met516Ile) c.1755G>C (p.Met585Ile) n.479-22078C>G n.563+22242C>G c.1773G>C (p.Met591Ile) | |
4 | g.47936946C>T | CA356825311 | CNGA1,NIPAL1 | c.1536G>A (p.Met512Ile) c.1548G>A (p.Met516Ile) c.1755G>A (p.Met585Ile) n.479-22078C>T n.563+22242C>T c.1773G>A (p.Met591Ile) | |
4 | g.47936947A= | CA1455551777 | CNGA1,NIPAL1 | c.1535T= (p.Met512=) c.1547T= (p.Met516=) c.1754T= (p.Met585=) n.479-22077A= n.563+22243A= c.1772T= (p.Met591=) | |
4 | g.47936947A>C | CA2911059 | CNGA1,NIPAL1 | c.1535T>G (p.Met512Arg) c.1547T>G (p.Met516Arg) c.1754T>G (p.Met585Arg) n.479-22077A>C n.563+22243A>C c.1772T>G (p.Met591Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.47936947A>G | CA356825316 | CNGA1,NIPAL1 | c.1535T>C (p.Met512Thr) c.1547T>C (p.Met516Thr) c.1754T>C (p.Met585Thr) n.479-22077A>G n.563+22243A>G c.1772T>C (p.Met591Thr) | |
4 | g.47936947A>T | CA356825318 | CNGA1,NIPAL1 | c.1535T>A (p.Met512Lys) c.1547T>A (p.Met516Lys) c.1754T>A (p.Met585Lys) n.479-22077A>T n.563+22243A>T c.1772T>A (p.Met591Lys) | |
4 | g.47936948T>A | CA356825320 | CNGA1,NIPAL1 | c.1534A>T (p.Met512Leu) c.1546A>T (p.Met516Leu) c.1753A>T (p.Met585Leu) n.479-22076T>A n.563+22244T>A c.1771A>T (p.Met591Leu) | |
4 | g.47936948T>C | CA356825322 | CNGA1,NIPAL1 | c.1534A>G (p.Met512Val) c.1546A>G (p.Met516Val) c.1753A>G (p.Met585Val) n.479-22076T>C n.563+22244T>C c.1771A>G (p.Met591Val) | |
4 | g.47936948T>G | CA356825324 | CNGA1,NIPAL1 | c.1534A>C (p.Met512Leu) c.1546A>C (p.Met516Leu) c.1753A>C (p.Met585Leu) n.479-22076T>G n.563+22244T>G c.1771A>C (p.Met591Leu) | |
4 | g.47936949C>A | CA356825326 | CNGA1,NIPAL1 | c.1533G>T (p.Glu511Asp) c.1545G>T (p.Glu515Asp) c.1752G>T (p.Glu584Asp) n.479-22075C>A n.563+22245C>A c.1770G>T (p.Glu590Asp) | |
4 | g.47936949C>G | CA356825328 | CNGA1,NIPAL1 | c.1533G>C (p.Glu511Asp) c.1545G>C (p.Glu515Asp) c.1752G>C (p.Glu584Asp) n.479-22075C>G n.563+22245C>G c.1770G>C (p.Glu590Asp) | |
4 | g.47936949C>T | CA439403825 | CNGA1,NIPAL1 | c.1533G>A (p.Glu511=) c.1545G>A (p.Glu515=) c.1752G>A (p.Glu584=) n.479-22075C>T n.563+22245C>T c.1770G>A (p.Glu590=) | |
4 | g.47936950T>A | CA356825330 | CNGA1,NIPAL1 | c.1532A>T (p.Glu511Val) c.1544A>T (p.Glu515Val) c.1751A>T (p.Glu584Val) n.479-22074T>A n.563+22246T>A c.1769A>T (p.Glu590Val) | |
4 | g.47936950T>C | CA356825332 | CNGA1,NIPAL1 | c.1532A>G (p.Glu511Gly) c.1544A>G (p.Glu515Gly) c.1751A>G (p.Glu584Gly) n.479-22074T>C n.563+22246T>C c.1769A>G (p.Glu590Gly) | |
4 | g.47936950T>G | CA356825334 | CNGA1,NIPAL1 | c.1532A>C (p.Glu511Ala) c.1544A>C (p.Glu515Ala) c.1751A>C (p.Glu584Ala) n.479-22074T>G n.563+22246T>G c.1769A>C (p.Glu590Ala) | |
4 | g.47936951C>A | CA356825341 | CNGA1,NIPAL1 | c.1531G>T (p.Glu511Ter) c.1543G>T (p.Glu515Ter) c.1750G>T (p.Glu584Ter) n.479-22073C>A n.563+22247C>A c.1768G>T (p.Glu590Ter) | |
4 | g.47936951C>G | CA356825339 | CNGA1,NIPAL1 | c.1531G>C (p.Glu511Gln) c.1543G>C (p.Glu515Gln) c.1750G>C (p.Glu584Gln) n.479-22073C>G n.563+22247C>G c.1768G>C (p.Glu590Gln) | |
4 | g.47936951C>T | CA356825338 | CNGA1,NIPAL1 | c.1531G>A (p.Glu511Lys) c.1543G>A (p.Glu515Lys) c.1750G>A (p.Glu584Lys) n.479-22073C>T n.563+22247C>T c.1768G>A (p.Glu590Lys) | |
4 | g.47936952T>A | CA439403827 | CNGA1,NIPAL1 | c.1530A>T (p.Arg510=) c.1542A>T (p.Arg514=) c.1749A>T (p.Arg583=) n.479-22072T>A n.563+22248T>A c.1767A>T (p.Arg589=) | |
4 | g.47936952T>C | CA439403828 | CNGA1,NIPAL1 | c.1530A>G (p.Arg510=) c.1542A>G (p.Arg514=) c.1749A>G (p.Arg583=) n.479-22072T>C n.563+22248T>C c.1767A>G (p.Arg589=) | |
4 | g.47936952T>G | CA439403829 | CNGA1,NIPAL1 | c.1530A>C (p.Arg510=) c.1542A>C (p.Arg514=) c.1749A>C (p.Arg583=) n.479-22072T>G n.563+22248T>G c.1767A>C (p.Arg589=) | |
4 | g.47936953C>A | CA356825343 | CNGA1,NIPAL1 | c.1529G>T (p.Arg510Leu) c.1541G>T (p.Arg514Leu) c.1748G>T (p.Arg583Leu) n.479-22071C>A n.563+22249C>A c.1766G>T (p.Arg589Leu) | |
4 | g.47936953C= | CA1455551778 | CNGA1,NIPAL1 | c.1529G= (p.Arg510=) c.1541G= (p.Arg514=) c.1748G= (p.Arg583=) n.479-22071C= n.563+22249C= c.1766G= (p.Arg589=) | |
4 | g.47936953C>G | CA356825346 | CNGA1,NIPAL1 | c.1529G>C (p.Arg510Pro) c.1541G>C (p.Arg514Pro) c.1748G>C (p.Arg583Pro) n.479-22071C>G n.563+22249C>G c.1766G>C (p.Arg589Pro) | |
4 | g.47936953C>T | CA2911060 | CNGA1,NIPAL1 | c.1529G>A (p.Arg510Gln) c.1541G>A (p.Arg514Gln) c.1748G>A (p.Arg583Gln) n.479-22071C>T n.563+22249C>T c.1766G>A (p.Arg589Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
4 | g.47936954G>A | CA2911061 | CNGA1,NIPAL1 | c.1528C>T (p.Arg510Ter) c.1540C>T (p.Arg514Ter) c.1747C>T (p.Arg583Ter) n.479-22070G>A n.563+22250G>A c.1765C>T (p.Arg589Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.47936954G>C | CA356825350 | CNGA1,NIPAL1 | c.1528C>G (p.Arg510Gly) c.1540C>G (p.Arg514Gly) c.1747C>G (p.Arg583Gly) n.479-22070G>C n.563+22250G>C c.1765C>G (p.Arg589Gly) | |
4 | g.47936954G= | CA1455551779 | CNGA1,NIPAL1 | c.1528C= (p.Arg510=) c.1540C= (p.Arg514=) c.1747C= (p.Arg583=) n.479-22070G= n.563+22250G= c.1765C= (p.Arg589=) | |
4 | g.47936954G>T | CA439403830 | CNGA1,NIPAL1 | c.1528C>A (p.Arg510=) c.1540C>A (p.Arg514=) c.1747C>A (p.Arg583=) n.479-22070G>T n.563+22250G>T c.1765C>A (p.Arg589=) | gnomAD v4 |
4 | g.47936955T>A | CA439403834 | CNGA1,NIPAL1 | c.1527A>T (p.Gly509=) c.1539A>T (p.Gly513=) c.1746A>T (p.Gly582=) n.479-22069T>A n.563+22251T>A c.1764A>T (p.Gly588=) | |
4 | g.47936955T>C | CA439403831 | CNGA1,NIPAL1 | c.1527A>G (p.Gly509=) c.1539A>G (p.Gly513=) c.1746A>G (p.Gly582=) n.479-22069T>C n.563+22251T>C c.1764A>G (p.Gly588=) | |
4 | g.47936955T>G | CA439403832 | CNGA1,NIPAL1 | c.1527A>C (p.Gly509=) c.1539A>C (p.Gly513=) c.1746A>C (p.Gly582=) n.479-22069T>G n.563+22251T>G c.1764A>C (p.Gly588=) | |
4 | g.47936956C>A | CA356825353 | CNGA1,NIPAL1 | c.1526G>T (p.Gly509Val) c.1538G>T (p.Gly513Val) c.1745G>T (p.Gly582Val) n.479-22068C>A n.563+22252C>A c.1763G>T (p.Gly588Val) | |
4 | g.47936956C= | CA1455551780 | CNGA1,NIPAL1 | c.1526G= (p.Gly509=) c.1538G= (p.Gly513=) c.1745G= (p.Gly582=) n.479-22068C= n.563+22252C= c.1763G= (p.Gly588=) | |
4 | g.47936956C>G | CA356825354 | CNGA1,NIPAL1 | c.1526G>C (p.Gly509Ala) c.1538G>C (p.Gly513Ala) c.1745G>C (p.Gly582Ala) n.479-22068C>G n.563+22252C>G c.1763G>C (p.Gly588Ala) | |
4 | g.47936956C>T | CA96688521 | CNGA1,NIPAL1 | c.1526G>A (p.Gly509Glu) c.1538G>A (p.Gly513Glu) c.1745G>A (p.Gly582Glu) n.479-22068C>T n.563+22252C>T c.1763G>A (p.Gly588Glu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.47936957C>A | CA356825358 | CNGA1,NIPAL1 | c.1525G>T (p.Gly509Ter) c.1537G>T (p.Gly513Ter) c.1744G>T (p.Gly582Ter) n.479-22067C>A n.563+22253C>A c.1762G>T (p.Gly588Ter) | |
4 | g.47936957C= | CA1455551781 | CNGA1,NIPAL1 | c.1525G= (p.Gly509=) c.1537G= (p.Gly513=) c.1744G= (p.Gly582=) n.479-22067C= n.563+22253C= c.1762G= (p.Gly588=) | |
4 | g.47936957C>G | CA356825360 | CNGA1,NIPAL1 | c.1525G>C (p.Gly509Arg) c.1537G>C (p.Gly513Arg) c.1744G>C (p.Gly582Arg) n.479-22067C>G n.563+22253C>G c.1762G>C (p.Gly588Arg) | |
4 | g.47936957C>T | CA2911062 | CNGA1,NIPAL1 | c.1525G>A (p.Gly509Arg) c.1537G>A (p.Gly513Arg) c.1744G>A (p.Gly582Arg) n.479-22067C>T n.563+22253C>T c.1762G>A (p.Gly588Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.47936958G>A | CA2911063 | CNGA1,NIPAL1 | c.1524C>T (p.Ile508=) c.1536C>T (p.Ile512=) c.1743C>T (p.Ile581=) n.479-22066G>A n.563+22254G>A c.1761C>T (p.Ile587=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.47936958G>C | CA356825363 | CNGA1,NIPAL1 | c.1524C>G (p.Ile508Met) c.1536C>G (p.Ile512Met) c.1743C>G (p.Ile581Met) n.479-22066G>C n.563+22254G>C c.1761C>G (p.Ile587Met) | |
4 | g.47936958G= | CA1455551782 | CNGA1,NIPAL1 | c.1524C= (p.Ile508=) c.1536C= (p.Ile512=) c.1743C= (p.Ile581=) n.479-22066G= n.563+22254G= c.1761C= (p.Ile587=) | |
4 | g.47936958G>T | CA439403836 | CNGA1,NIPAL1 | c.1524C>A (p.Ile508=) c.1536C>A (p.Ile512=) c.1743C>A (p.Ile581=) n.479-22066G>T n.563+22254G>T c.1761C>A (p.Ile587=) | |
4 | g.47936959A>C | CA356825369 | CNGA1,NIPAL1 | c.1523T>G (p.Ile508Ser) c.1535T>G (p.Ile512Ser) c.1742T>G (p.Ile581Ser) n.479-22065A>C n.563+22255A>C c.1760T>G (p.Ile587Ser) | |
4 | g.47936959A>G | CA356825367 | CNGA1,NIPAL1 | c.1523T>C (p.Ile508Thr) c.1535T>C (p.Ile512Thr) c.1742T>C (p.Ile581Thr) n.479-22065A>G n.563+22255A>G c.1760T>C (p.Ile587Thr) | gnomAD v4 |
4 | g.47936959A>T | CA356825365 | CNGA1,NIPAL1 | c.1523T>A (p.Ile508Asn) c.1535T>A (p.Ile512Asn) c.1742T>A (p.Ile581Asn) n.479-22065A>T n.563+22255A>T c.1760T>A (p.Ile587Asn) | |
4 | g.47936960T>A | CA356825375 | CNGA1,NIPAL1 | c.1522A>T (p.Ile508Phe) c.1534A>T (p.Ile512Phe) c.1741A>T (p.Ile581Phe) n.479-22064T>A n.563+22256T>A c.1759A>T (p.Ile587Phe) | |
4 | g.47936960T>C | CA356825371 | CNGA1,NIPAL1 | c.1522A>G (p.Ile508Val) c.1534A>G (p.Ile512Val) c.1741A>G (p.Ile581Val) n.479-22064T>C n.563+22256T>C c.1759A>G (p.Ile587Val) | ClinVar dbSNP gnomAD v4 |
4 | g.47936960T>G | CA356825373 | CNGA1,NIPAL1 | c.1522A>C (p.Ile508Leu) c.1534A>C (p.Ile512Leu) c.1741A>C (p.Ile581Leu) n.479-22064T>G n.563+22256T>G c.1759A>C (p.Ile587Leu) | |
4 | g.47936960T= | CA1455551783 | CNGA1,NIPAL1 | c.1522A= (p.Ile508=) c.1534A= (p.Ile512=) c.1741A= (p.Ile581=) n.479-22064T= n.563+22256T= c.1759A= (p.Ile587=) |