Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
4 | g.47936824G>A | CA356824605 | CNGA1,NIPAL1 | c.1658C>T (p.Ala553Val) c.1670C>T (p.Ala557Val) c.1877C>T (p.Ala626Val) n.478+22120G>A n.563+22120G>A c.1895C>T (p.Ala632Val) | gnomAD v4 |
4 | g.47936824G>C | CA356824607 | CNGA1,NIPAL1 | c.1658C>G (p.Ala553Gly) c.1670C>G (p.Ala557Gly) c.1877C>G (p.Ala626Gly) n.478+22120G>C n.563+22120G>C c.1895C>G (p.Ala632Gly) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.47936824G= | CA1455551724 | CNGA1,NIPAL1 | c.1658C= (p.Ala553=) c.1670C= (p.Ala557=) c.1877C= (p.Ala626=) n.478+22120G= n.563+22120G= c.1895C= (p.Ala632=) | |
4 | g.47936824G>T | CA356824609 | CNGA1,NIPAL1 | c.1658C>A (p.Ala553Asp) c.1670C>A (p.Ala557Asp) c.1877C>A (p.Ala626Asp) n.478+22120G>T n.563+22120G>T c.1895C>A (p.Ala632Asp) | |
4 | g.47936825C>A | CA356824613 | CNGA1,NIPAL1 | c.1657G>T (p.Ala553Ser) c.1669G>T (p.Ala557Ser) c.1876G>T (p.Ala626Ser) n.478+22121C>A n.563+22121C>A c.1894G>T (p.Ala632Ser) | COSMIC COSMIC |
4 | g.47936825C>G | CA356824615 | CNGA1,NIPAL1 | c.1657G>C (p.Ala553Pro) c.1669G>C (p.Ala557Pro) c.1876G>C (p.Ala626Pro) n.478+22121C>G n.563+22121C>G c.1894G>C (p.Ala632Pro) | |
4 | g.47936825C>T | CA356824618 | CNGA1,NIPAL1 | c.1657G>A (p.Ala553Thr) c.1669G>A (p.Ala557Thr) c.1876G>A (p.Ala626Thr) n.478+22121C>T n.563+22121C>T c.1894G>A (p.Ala632Thr) | |
4 | g.47936826T>A | CA356824623 | CNGA1,NIPAL1 | c.1656A>T (p.Lys552Asn) c.1668A>T (p.Lys556Asn) c.1875A>T (p.Lys625Asn) n.478+22122T>A n.563+22122T>A c.1893A>T (p.Lys631Asn) | |
4 | g.47936826T>C | CA439404075 | CNGA1,NIPAL1 | c.1656A>G (p.Lys552=) c.1668A>G (p.Lys556=) c.1875A>G (p.Lys625=) n.478+22122T>C n.563+22122T>C c.1893A>G (p.Lys631=) | |
4 | g.47936826T>G | CA356824625 | CNGA1,NIPAL1 | c.1656A>C (p.Lys552Asn) c.1668A>C (p.Lys556Asn) c.1875A>C (p.Lys625Asn) n.478+22122T>G n.563+22122T>G c.1893A>C (p.Lys631Asn) | gnomAD v4 |
4 | g.47936827T>A | CA356824636 | CNGA1,NIPAL1 | c.1655A>T (p.Lys552Ile) c.1667A>T (p.Lys556Ile) c.1874A>T (p.Lys625Ile) n.478+22123T>A n.563+22123T>A c.1892A>T (p.Lys631Ile) | |
4 | g.47936827T>C | CA356824633 | CNGA1,NIPAL1 | c.1655A>G (p.Lys552Arg) c.1667A>G (p.Lys556Arg) c.1874A>G (p.Lys625Arg) n.478+22123T>C n.563+22123T>C c.1892A>G (p.Lys631Arg) | |
4 | g.47936827T>G | CA356824630 | CNGA1,NIPAL1 | c.1655A>C (p.Lys552Thr) c.1667A>C (p.Lys556Thr) c.1874A>C (p.Lys625Thr) n.478+22123T>G n.563+22123T>G c.1892A>C (p.Lys631Thr) | |
4 | g.47936828T>A | CA356824640 | CNGA1,NIPAL1 | c.1654A>T (p.Lys552Ter) c.1666A>T (p.Lys556Ter) c.1873A>T (p.Lys625Ter) n.478+22124T>A n.563+22124T>A c.1891A>T (p.Lys631Ter) | |
4 | g.47936828T>C | CA356824642 | CNGA1,NIPAL1 | c.1654A>G (p.Lys552Glu) c.1666A>G (p.Lys556Glu) c.1873A>G (p.Lys625Glu) n.478+22124T>C n.563+22124T>C c.1891A>G (p.Lys631Glu) | |
4 | g.47936828T>G | CA356824644 | CNGA1,NIPAL1 | c.1654A>C (p.Lys552Gln) c.1666A>C (p.Lys556Gln) c.1873A>C (p.Lys625Gln) n.478+22124T>G n.563+22124T>G c.1891A>C (p.Lys631Gln) | |
4 | g.47936829G>A | CA439404083 | CNGA1,NIPAL1 | c.1653C>T (p.Ser551=) c.1665C>T (p.Ser555=) c.1872C>T (p.Ser624=) n.478+22125G>A n.563+22125G>A c.1890C>T (p.Ser630=) | |
4 | g.47936829G>C | CA356824648 | CNGA1,NIPAL1 | c.1653C>G (p.Ser551Arg) c.1665C>G (p.Ser555Arg) c.1872C>G (p.Ser624Arg) n.478+22125G>C n.563+22125G>C c.1890C>G (p.Ser630Arg) | |
4 | g.47936829G>T | CA356824651 | CNGA1,NIPAL1 | c.1653C>A (p.Ser551Arg) c.1665C>A (p.Ser555Arg) c.1872C>A (p.Ser624Arg) n.478+22125G>T n.563+22125G>T c.1890C>A (p.Ser630Arg) | |
4 | g.47936830C>A | CA356824661 | CNGA1,NIPAL1 | c.1652G>T (p.Ser551Ile) c.1664G>T (p.Ser555Ile) c.1871G>T (p.Ser624Ile) n.478+22126C>A n.563+22126C>A c.1889G>T (p.Ser630Ile) | |
4 | g.47936830C= | CA1455551725 | CNGA1,NIPAL1 | c.1652G= (p.Ser551=) c.1664G= (p.Ser555=) c.1871G= (p.Ser624=) n.478+22126C= n.563+22126C= c.1889G= (p.Ser630=) | |
4 | g.47936830C>G | CA2911035 | CNGA1,NIPAL1 | c.1652G>C (p.Ser551Thr) c.1664G>C (p.Ser555Thr) c.1871G>C (p.Ser624Thr) n.478+22126C>G n.563+22126C>G c.1889G>C (p.Ser630Thr) | dbSNP ExAC gnomAD v2 |
4 | g.47936830C>T | CA356824656 | CNGA1,NIPAL1 | c.1652G>A (p.Ser551Asn) c.1664G>A (p.Ser555Asn) c.1871G>A (p.Ser624Asn) n.478+22126C>T n.563+22126C>T c.1889G>A (p.Ser630Asn) | gnomAD v4 |
4 | g.47936831T>A | CA356824667 | CNGA1,NIPAL1 | c.1651A>T (p.Ser551Cys) c.1663A>T (p.Ser555Cys) c.1870A>T (p.Ser624Cys) n.478+22127T>A n.563+22127T>A c.1888A>T (p.Ser630Cys) | |
4 | g.47936831T>C | CA2911036 | CNGA1,NIPAL1 | c.1651A>G (p.Ser551Gly) c.1663A>G (p.Ser555Gly) c.1870A>G (p.Ser624Gly) n.478+22127T>C n.563+22127T>C c.1888A>G (p.Ser630Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.47936831T>G | CA356824671 | CNGA1,NIPAL1 | c.1651A>C (p.Ser551Arg) c.1663A>C (p.Ser555Arg) c.1870A>C (p.Ser624Arg) n.478+22127T>G n.563+22127T>G c.1888A>C (p.Ser630Arg) | |
4 | g.47936831T= | CA1455551726 | CNGA1,NIPAL1 | c.1651A= (p.Ser551=) c.1663A= (p.Ser555=) c.1870A= (p.Ser624=) n.478+22127T= n.563+22127T= c.1888A= (p.Ser630=) | |
4 | g.47936832C>A | CA439404086 | CNGA1,NIPAL1 | c.1650G>T (p.Gly550=) c.1662G>T (p.Gly554=) c.1869G>T (p.Gly623=) n.478+22128C>A n.563+22128C>A c.1887G>T (p.Gly629=) | |
4 | g.47936832C>G | CA439404087 | CNGA1,NIPAL1 | c.1650G>C (p.Gly550=) c.1662G>C (p.Gly554=) c.1869G>C (p.Gly623=) n.478+22128C>G n.563+22128C>G c.1887G>C (p.Gly629=) | |
4 | g.47936832C>T | CA439404088 | CNGA1,NIPAL1 | c.1650G>A (p.Gly550=) c.1662G>A (p.Gly554=) c.1869G>A (p.Gly623=) n.478+22128C>T n.563+22128C>T c.1887G>A (p.Gly629=) | |
4 | g.47936833C>A | CA356824674 | CNGA1,NIPAL1 | c.1649G>T (p.Gly550Val) c.1661G>T (p.Gly554Val) c.1868G>T (p.Gly623Val) n.478+22129C>A n.563+22129C>A c.1886G>T (p.Gly629Val) | dbSNP |
4 | g.47936833C= | CA1455551727 | CNGA1,NIPAL1 | c.1649G= (p.Gly550=) c.1661G= (p.Gly554=) c.1868G= (p.Gly623=) n.478+22129C= n.563+22129C= c.1886G= (p.Gly629=) | |
4 | g.47936833C>G | CA356824677 | CNGA1,NIPAL1 | c.1649G>C (p.Gly550Ala) c.1661G>C (p.Gly554Ala) c.1868G>C (p.Gly623Ala) n.478+22129C>G n.563+22129C>G c.1886G>C (p.Gly629Ala) | |
4 | g.47936833C>T | CA356824680 | CNGA1,NIPAL1 | c.1649G>A (p.Gly550Glu) c.1661G>A (p.Gly554Glu) c.1868G>A (p.Gly623Glu) n.478+22129C>T n.563+22129C>T c.1886G>A (p.Gly629Glu) | gnomAD v4 |
4 | g.47936834C>A | CA356824684 | CNGA1,NIPAL1 | c.1648G>T (p.Gly550Trp) c.1660G>T (p.Gly554Trp) c.1867G>T (p.Gly623Trp) n.478+22130C>A n.563+22130C>A c.1885G>T (p.Gly629Trp) | |
4 | g.47936834C= | CA1455551728 | CNGA1,NIPAL1 | c.1648G= (p.Gly550=) c.1660G= (p.Gly554=) c.1867G= (p.Gly623=) n.478+22130C= n.563+22130C= c.1885G= (p.Gly629=) | |
4 | g.47936834C>G | CA356824689 | CNGA1,NIPAL1 | c.1648G>C (p.Gly550Arg) c.1660G>C (p.Gly554Arg) c.1867G>C (p.Gly623Arg) n.478+22130C>G n.563+22130C>G c.1885G>C (p.Gly629Arg) | |
4 | g.47936834C>T | CA356824686 | CNGA1,NIPAL1 | c.1648G>A (p.Gly550Arg) c.1660G>A (p.Gly554Arg) c.1867G>A (p.Gly623Arg) n.478+22130C>T n.563+22130C>T c.1885G>A (p.Gly629Arg) | ClinVar dbSNP gnomAD v4 |
4 | g.47936835T>A | CA356824692 | CNGA1,NIPAL1 | c.1647A>T (p.Lys549Asn) c.1659A>T (p.Lys553Asn) c.1866A>T (p.Lys622Asn) n.478+22131T>A n.563+22131T>A c.1884A>T (p.Lys628Asn) | |
4 | g.47936835T>C | CA439404091 | CNGA1,NIPAL1 | c.1647A>G (p.Lys549=) c.1659A>G (p.Lys553=) c.1866A>G (p.Lys622=) n.478+22131T>C n.563+22131T>C c.1884A>G (p.Lys628=) | |
4 | g.47936835T>G | CA356824695 | CNGA1,NIPAL1 | c.1647A>C (p.Lys549Asn) c.1659A>C (p.Lys553Asn) c.1866A>C (p.Lys622Asn) n.478+22131T>G n.563+22131T>G c.1884A>C (p.Lys628Asn) | |
4 | g.47936836T>A | CA356824699 | CNGA1,NIPAL1 | c.1646A>T (p.Lys549Ile) c.1658A>T (p.Lys553Ile) c.1865A>T (p.Lys622Ile) n.478+22132T>A n.563+22132T>A c.1883A>T (p.Lys628Ile) | |
4 | g.47936836T>C | CA356824703 | CNGA1,NIPAL1 | c.1646A>G (p.Lys549Arg) c.1658A>G (p.Lys553Arg) c.1865A>G (p.Lys622Arg) n.478+22132T>C n.563+22132T>C c.1883A>G (p.Lys628Arg) | |
4 | g.47936836T>G | CA356824706 | CNGA1,NIPAL1 | c.1646A>C (p.Lys549Thr) c.1658A>C (p.Lys553Thr) c.1865A>C (p.Lys622Thr) n.478+22132T>G n.563+22132T>G c.1883A>C (p.Lys628Thr) | |
4 | g.47936837T>A | CA356824708 | CNGA1,NIPAL1 | c.1645A>T (p.Lys549Ter) c.1657A>T (p.Lys553Ter) c.1864A>T (p.Lys622Ter) n.478+22133T>A n.563+22133T>A c.1882A>T (p.Lys628Ter) | |
4 | g.47936837T>C | CA356824710 | CNGA1,NIPAL1 | c.1645A>G (p.Lys549Glu) c.1657A>G (p.Lys553Glu) c.1864A>G (p.Lys622Glu) n.478+22133T>C n.563+22133T>C c.1882A>G (p.Lys628Glu) | |
4 | g.47936837T>G | CA356824714 | CNGA1,NIPAL1 | c.1645A>C (p.Lys549Gln) c.1657A>C (p.Lys553Gln) c.1864A>C (p.Lys622Gln) n.478+22133T>G n.563+22133T>G c.1882A>C (p.Lys628Gln) | |
4 | g.47936838A= | CA1455551729 | CNGA1,NIPAL1 | c.1644T= (p.Ile548=) c.1656T= (p.Ile552=) c.1863T= (p.Ile621=) n.478+22134A= n.563+22134A= c.1881T= (p.Ile627=) | |
4 | g.47936838A>C | CA356824717 | CNGA1,NIPAL1 | c.1644T>G (p.Ile548Met) c.1656T>G (p.Ile552Met) c.1863T>G (p.Ile621Met) n.478+22134A>C n.563+22134A>C c.1881T>G (p.Ile627Met) | dbSNP |
4 | g.47936838A>G | CA439404094 | CNGA1,NIPAL1 | c.1644T>C (p.Ile548=) c.1656T>C (p.Ile552=) c.1863T>C (p.Ile621=) n.478+22134A>G n.563+22134A>G c.1881T>C (p.Ile627=) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.47936838A>T | CA439404095 | CNGA1,NIPAL1 | c.1644T>A (p.Ile548=) c.1656T>A (p.Ile552=) c.1863T>A (p.Ile621=) n.478+22134A>T n.563+22134A>T c.1881T>A (p.Ile627=) | |
4 | g.47936839A= | CA1455551730 | CNGA1,NIPAL1 | c.1643T= (p.Ile548=) c.1655T= (p.Ile552=) c.1862T= (p.Ile621=) n.478+22135A= n.563+22135A= c.1880T= (p.Ile627=) | |
4 | g.47936839A>C | CA96688299 | CNGA1,NIPAL1 | c.1643T>G (p.Ile548Ser) c.1655T>G (p.Ile552Ser) c.1862T>G (p.Ile621Ser) n.478+22135A>C n.563+22135A>C c.1880T>G (p.Ile627Ser) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.47936839A>G | CA2911037 | CNGA1,NIPAL1 | c.1643T>C (p.Ile548Thr) c.1655T>C (p.Ile552Thr) c.1862T>C (p.Ile621Thr) n.478+22135A>G n.563+22135A>G c.1880T>C (p.Ile627Thr) | dbSNP ExAC gnomAD v2 |
4 | g.47936839A>T | CA356824725 | CNGA1,NIPAL1 | c.1643T>A (p.Ile548Asn) c.1655T>A (p.Ile552Asn) c.1862T>A (p.Ile621Asn) n.478+22135A>T n.563+22135A>T c.1880T>A (p.Ile627Asn) | |
4 | g.47936840T>A | CA356824733 | CNGA1,NIPAL1 | c.1642A>T (p.Ile548Phe) c.1654A>T (p.Ile552Phe) c.1861A>T (p.Ile621Phe) n.478+22136T>A n.563+22136T>A c.1879A>T (p.Ile627Phe) | |
4 | g.47936840T>C | CA2911038 | CNGA1,NIPAL1 | c.1642A>G (p.Ile548Val) c.1654A>G (p.Ile552Val) c.1861A>G (p.Ile621Val) n.478+22136T>C n.563+22136T>C c.1879A>G (p.Ile627Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.47936840T>G | CA356824728 | CNGA1,NIPAL1 | c.1642A>C (p.Ile548Leu) c.1654A>C (p.Ile552Leu) c.1861A>C (p.Ile621Leu) n.478+22136T>G n.563+22136T>G c.1879A>C (p.Ile627Leu) | |
4 | g.47936840T= | CA1455551731 | CNGA1,NIPAL1 | c.1642A= (p.Ile548=) c.1654A= (p.Ile552=) c.1861A= (p.Ile621=) n.478+22136T= n.563+22136T= c.1879A= (p.Ile627=) | |
4 | g.47936841G>A | CA439404098 | CNGA1,NIPAL1 | c.1641C>T (p.Asn547=) c.1653C>T (p.Asn551=) c.1860C>T (p.Asn620=) n.478+22137G>A n.563+22137G>A c.1878C>T (p.Asn626=) | dbSNP |
4 | g.47936841G>C | CA356824736 | CNGA1,NIPAL1 | c.1641C>G (p.Asn547Lys) c.1653C>G (p.Asn551Lys) c.1860C>G (p.Asn620Lys) n.478+22137G>C n.563+22137G>C c.1878C>G (p.Asn626Lys) | |
4 | g.47936841G= | CA1455551732 | CNGA1,NIPAL1 | c.1641C= (p.Asn547=) c.1653C= (p.Asn551=) c.1860C= (p.Asn620=) n.478+22137G= n.563+22137G= c.1878C= (p.Asn626=) | |
4 | g.47936841G>T | CA356824740 | CNGA1,NIPAL1 | c.1641C>A (p.Asn547Lys) c.1653C>A (p.Asn551Lys) c.1860C>A (p.Asn620Lys) n.478+22137G>T n.563+22137G>T c.1878C>A (p.Asn626Lys) | |
4 | g.47936842T>A | CA356824743 | CNGA1,NIPAL1 | c.1640A>T (p.Asn547Ile) c.1652A>T (p.Asn551Ile) c.1859A>T (p.Asn620Ile) n.478+22138T>A n.563+22138T>A c.1877A>T (p.Asn626Ile) | |
4 | g.47936842T>C | CA356824744 | CNGA1,NIPAL1 | c.1640A>G (p.Asn547Ser) c.1652A>G (p.Asn551Ser) c.1859A>G (p.Asn620Ser) n.478+22138T>C n.563+22138T>C c.1877A>G (p.Asn626Ser) | |
4 | g.47936842T>G | CA356824746 | CNGA1,NIPAL1 | c.1640A>C (p.Asn547Thr) c.1652A>C (p.Asn551Thr) c.1859A>C (p.Asn620Thr) n.478+22138T>G n.563+22138T>G c.1877A>C (p.Asn626Thr) | |
4 | g.47936843T>A | CA356824755 | CNGA1,NIPAL1 | c.1639A>T (p.Asn547Tyr) c.1651A>T (p.Asn551Tyr) c.1858A>T (p.Asn620Tyr) n.478+22139T>A n.563+22139T>A c.1876A>T (p.Asn626Tyr) | |
4 | g.47936843T>C | CA356824753 | CNGA1,NIPAL1 | c.1639A>G (p.Asn547Asp) c.1651A>G (p.Asn551Asp) c.1858A>G (p.Asn620Asp) n.478+22139T>C n.563+22139T>C c.1876A>G (p.Asn626Asp) | |
4 | g.47936843T>G | CA356824750 | CNGA1,NIPAL1 | c.1639A>C (p.Asn547His) c.1651A>C (p.Asn551His) c.1858A>C (p.Asn620His) n.478+22139T>G n.563+22139T>G c.1876A>C (p.Asn626His) | |
4 | g.47936844A>C | CA439404101 | CNGA1,NIPAL1 | c.1638T>G (p.Leu546=) c.1650T>G (p.Leu550=) c.1857T>G (p.Leu619=) n.478+22140A>C n.563+22140A>C c.1875T>G (p.Leu625=) | |
4 | g.47936844A>G | CA439404103 | CNGA1,NIPAL1 | c.1638T>C (p.Leu546=) c.1650T>C (p.Leu550=) c.1857T>C (p.Leu619=) n.478+22140A>G n.563+22140A>G c.1875T>C (p.Leu625=) | |
4 | g.47936844A>T | CA439404102 | CNGA1,NIPAL1 | c.1638T>A (p.Leu546=) c.1650T>A (p.Leu550=) c.1857T>A (p.Leu619=) n.478+22140A>T n.563+22140A>T c.1875T>A (p.Leu625=) | |
4 | g.47936845A>C | CA356824760 | CNGA1,NIPAL1 | c.1637T>G (p.Leu546Arg) c.1649T>G (p.Leu550Arg) c.1856T>G (p.Leu619Arg) n.478+22141A>C n.563+22141A>C c.1874T>G (p.Leu625Arg) | |
4 | g.47936845A>G | CA356824762 | CNGA1,NIPAL1 | c.1637T>C (p.Leu546Pro) c.1649T>C (p.Leu550Pro) c.1856T>C (p.Leu619Pro) n.478+22141A>G n.563+22141A>G c.1874T>C (p.Leu625Pro) | |
4 | g.47936845A>T | CA356824765 | CNGA1,NIPAL1 | c.1637T>A (p.Leu546His) c.1649T>A (p.Leu550His) c.1856T>A (p.Leu619His) n.478+22141A>T n.563+22141A>T c.1874T>A (p.Leu625His) | |
4 | g.47936846G>A | CA356824768 | CNGA1,NIPAL1 | c.1636C>T (p.Leu546Phe) c.1648C>T (p.Leu550Phe) c.1855C>T (p.Leu619Phe) n.478+22142G>A n.563+22142G>A c.1873C>T (p.Leu625Phe) | |
4 | g.47936846G>C | CA356824771 | CNGA1,NIPAL1 | c.1636C>G (p.Leu546Val) c.1648C>G (p.Leu550Val) c.1855C>G (p.Leu619Val) n.478+22142G>C n.563+22142G>C c.1873C>G (p.Leu625Val) | gnomAD v4 |
4 | g.47936846G>T | CA356824774 | CNGA1,NIPAL1 | c.1636C>A (p.Leu546Ile) c.1648C>A (p.Leu550Ile) c.1855C>A (p.Leu619Ile) n.478+22142G>T n.563+22142G>T c.1873C>A (p.Leu625Ile) | |
4 | g.47936846_47936847delinsGA | CA1455551733 | CNGA1,NIPAL1 | c.1635_1636delinsTC (p.Ile545=) c.1647_1648delinsTC (p.Ile549=) c.1854_1855delinsTC (p.Ile618=) n.478+22142_478+22143delinsGA n.563+22142_563+22143delinsGA c.1872_1873delinsTC (p.Ile624=) | |
4 | g.47936847A>C | CA356824777 | CNGA1,NIPAL1 | c.1635T>G (p.Ile545Met) c.1647T>G (p.Ile549Met) c.1854T>G (p.Ile618Met) n.478+22143A>C n.563+22143A>C c.1872T>G (p.Ile624Met) | |
4 | g.47936847A>G | CA439404108 | CNGA1,NIPAL1 | c.1635T>C (p.Ile545=) c.1647T>C (p.Ile549=) c.1854T>C (p.Ile618=) n.478+22143A>G n.563+22143A>G c.1872T>C (p.Ile624=) | |
4 | g.47936847A>T | CA439404109 | CNGA1,NIPAL1 | c.1635T>A (p.Ile545=) c.1647T>A (p.Ile549=) c.1854T>A (p.Ile618=) n.478+22143A>T n.563+22143A>T c.1872T>A (p.Ile624=) | |
4 | g.47936848del | CA551650445 | CNGA1,NIPAL1 | c.1635del (p.Asn547ThrfsTer?) c.1647del (p.Asn551ThrfsTer?) c.1854del (p.Asn620ThrfsTer?) n.478+22144del n.563+22144del c.1872del (p.Asn626ThrfsTer?) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
4 | g.47936848A>C | CA356824781 | CNGA1,NIPAL1 | c.1634T>G (p.Ile545Ser) c.1646T>G (p.Ile549Ser) c.1853T>G (p.Ile618Ser) n.478+22144A>C n.563+22144A>C c.1871T>G (p.Ile624Ser) | |
4 | g.47936848A>G | CA356824785 | CNGA1,NIPAL1 | c.1634T>C (p.Ile545Thr) c.1646T>C (p.Ile549Thr) c.1853T>C (p.Ile618Thr) n.478+22144A>G n.563+22144A>G c.1871T>C (p.Ile624Thr) | |
4 | g.47936848A>T | CA356824783 | CNGA1,NIPAL1 | c.1634T>A (p.Ile545Asn) c.1646T>A (p.Ile549Asn) c.1853T>A (p.Ile618Asn) n.478+22144A>T n.563+22144A>T c.1871T>A (p.Ile624Asn) | |
4 | g.47936849T>A | CA2911039 | CNGA1,NIPAL1 | c.1633A>T (p.Ile545Phe) c.1645A>T (p.Ile549Phe) c.1852A>T (p.Ile618Phe) n.478+22145T>A n.563+22145T>A c.1870A>T (p.Ile624Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.47936849T>C | CA356824790 | CNGA1,NIPAL1 | c.1633A>G (p.Ile545Val) c.1645A>G (p.Ile549Val) c.1852A>G (p.Ile618Val) n.478+22145T>C n.563+22145T>C c.1870A>G (p.Ile624Val) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.47936849T>G | CA356824795 | CNGA1,NIPAL1 | c.1633A>C (p.Ile545Leu) c.1645A>C (p.Ile549Leu) c.1852A>C (p.Ile618Leu) n.478+22145T>G n.563+22145T>G c.1870A>C (p.Ile624Leu) | |
4 | g.47936849T= | CA1455551734 | CNGA1,NIPAL1 | c.1633A= (p.Ile545=) c.1645A= (p.Ile549=) c.1852A= (p.Ile618=) n.478+22145T= n.563+22145T= c.1870A= (p.Ile624=) | |
4 | g.47936850G>A | CA439404116 | CNGA1,NIPAL1 | c.1632C>T (p.Ser544=) c.1644C>T (p.Ser548=) c.1851C>T (p.Ser617=) n.478+22146G>A n.563+22146G>A c.1869C>T (p.Ser623=) | ClinVar |
4 | g.47936850G>C | CA356824798 | CNGA1,NIPAL1 | c.1632C>G (p.Ser544Arg) c.1644C>G (p.Ser548Arg) c.1851C>G (p.Ser617Arg) n.478+22146G>C n.563+22146G>C c.1869C>G (p.Ser623Arg) | |
4 | g.47936850G>T | CA356824800 | CNGA1,NIPAL1 | c.1632C>A (p.Ser544Arg) c.1644C>A (p.Ser548Arg) c.1851C>A (p.Ser617Arg) n.478+22146G>T n.563+22146G>T c.1869C>A (p.Ser623Arg) | |
4 | g.47936851C>A | CA356824801 | CNGA1,NIPAL1 | c.1631G>T (p.Ser544Ile) c.1643G>T (p.Ser548Ile) c.1850G>T (p.Ser617Ile) n.478+22147C>A n.563+22147C>A c.1868G>T (p.Ser623Ile) | |
4 | g.47936851C>G | CA356824802 | CNGA1,NIPAL1 | c.1631G>C (p.Ser544Thr) c.1643G>C (p.Ser548Thr) c.1850G>C (p.Ser617Thr) n.478+22147C>G n.563+22147C>G c.1868G>C (p.Ser623Thr) | |
4 | g.47936851C>T | CA356824803 | CNGA1,NIPAL1 | c.1631G>A (p.Ser544Asn) c.1643G>A (p.Ser548Asn) c.1850G>A (p.Ser617Asn) n.478+22147C>T n.563+22147C>T c.1868G>A (p.Ser623Asn) | |
4 | g.47936852T>A | CA356824804 | CNGA1,NIPAL1 | c.1630A>T (p.Ser544Cys) c.1642A>T (p.Ser548Cys) c.1849A>T (p.Ser617Cys) n.478+22148T>A n.563+22148T>A c.1867A>T (p.Ser623Cys) | |
4 | g.47936852T>C | CA356824805 | CNGA1,NIPAL1 | c.1630A>G (p.Ser544Gly) c.1642A>G (p.Ser548Gly) c.1849A>G (p.Ser617Gly) n.478+22148T>C n.563+22148T>C c.1867A>G (p.Ser623Gly) | ClinVar dbSNP gnomAD v4 |
4 | g.47936852T>G | CA356824806 | CNGA1,NIPAL1 | c.1630A>C (p.Ser544Arg) c.1642A>C (p.Ser548Arg) c.1849A>C (p.Ser617Arg) n.478+22148T>G n.563+22148T>G c.1867A>C (p.Ser623Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
4 | g.47936852T= | CA1455551735 | CNGA1,NIPAL1 | c.1630A= (p.Ser544=) c.1642A= (p.Ser548=) c.1849A= (p.Ser617=) n.478+22148T= n.563+22148T= c.1867A= (p.Ser623=) | |
4 | g.47936853G>A | CA96688351 | CNGA1,NIPAL1 | c.1629C>T (p.Ile543=) c.1641C>T (p.Ile547=) c.1848C>T (p.Ile616=) n.478+22149G>A n.563+22149G>A c.1866C>T (p.Ile622=) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.47936853G>C | CA356824812 | CNGA1,NIPAL1 | c.1629C>G (p.Ile543Met) c.1641C>G (p.Ile547Met) c.1848C>G (p.Ile616Met) n.478+22149G>C n.563+22149G>C c.1866C>G (p.Ile622Met) | |
4 | g.47936853G= | CA1455551736 | CNGA1,NIPAL1 | c.1629C= (p.Ile543=) c.1641C= (p.Ile547=) c.1848C= (p.Ile616=) n.478+22149G= n.563+22149G= c.1866C= (p.Ile622=) | |
4 | g.47936853G>T | CA439404121 | CNGA1,NIPAL1 | c.1629C>A (p.Ile543=) c.1641C>A (p.Ile547=) c.1848C>A (p.Ile616=) n.478+22149G>T n.563+22149G>T c.1866C>A (p.Ile622=) | gnomAD v4 |
4 | g.47936854A>C | CA356824816 | CNGA1,NIPAL1 | c.1628T>G (p.Ile543Ser) c.1640T>G (p.Ile547Ser) c.1847T>G (p.Ile616Ser) n.478+22150A>C n.563+22150A>C c.1865T>G (p.Ile622Ser) | |
4 | g.47936854A>G | CA356824822 | CNGA1,NIPAL1 | c.1628T>C (p.Ile543Thr) c.1640T>C (p.Ile547Thr) c.1847T>C (p.Ile616Thr) n.478+22150A>G n.563+22150A>G c.1865T>C (p.Ile622Thr) | |
4 | g.47936854A>T | CA356824819 | CNGA1,NIPAL1 | c.1628T>A (p.Ile543Asn) c.1640T>A (p.Ile547Asn) c.1847T>A (p.Ile616Asn) n.478+22150A>T n.563+22150A>T c.1865T>A (p.Ile622Asn) | |
4 | g.47936855T>A | CA356824825 | CNGA1,NIPAL1 | c.1627A>T (p.Ile543Phe) c.1639A>T (p.Ile547Phe) c.1846A>T (p.Ile616Phe) n.478+22151T>A n.563+22151T>A c.1864A>T (p.Ile622Phe) | |
4 | g.47936855T>C | CA356824826 | CNGA1,NIPAL1 | c.1627A>G (p.Ile543Val) c.1639A>G (p.Ile547Val) c.1846A>G (p.Ile616Val) n.478+22151T>C n.563+22151T>C c.1864A>G (p.Ile622Val) | |
4 | g.47936855T>G | CA356824830 | CNGA1,NIPAL1 | c.1627A>C (p.Ile543Leu) c.1639A>C (p.Ile547Leu) c.1846A>C (p.Ile616Leu) n.478+22151T>G n.563+22151T>G c.1864A>C (p.Ile622Leu) | |
4 | g.47936856C>A | CA356824834 | CNGA1,NIPAL1 | c.1626G>T (p.Glu542Asp) c.1638G>T (p.Glu546Asp) c.1845G>T (p.Glu615Asp) n.478+22152C>A n.563+22152C>A c.1863G>T (p.Glu621Asp) | |
4 | g.47936856C= | CA1455551737 | CNGA1,NIPAL1 | c.1626G= (p.Glu542=) c.1638G= (p.Glu546=) c.1845G= (p.Glu615=) n.478+22152C= n.563+22152C= c.1863G= (p.Glu621=) | |
4 | g.47936856C>G | CA356824836 | CNGA1,NIPAL1 | c.1626G>C (p.Glu542Asp) c.1638G>C (p.Glu546Asp) c.1845G>C (p.Glu615Asp) n.478+22152C>G n.563+22152C>G c.1863G>C (p.Glu621Asp) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.47936856C>T | CA439404124 | CNGA1,NIPAL1 | c.1626G>A (p.Glu542=) c.1638G>A (p.Glu546=) c.1845G>A (p.Glu615=) n.478+22152C>T n.563+22152C>T c.1863G>A (p.Glu621=) | |
4 | g.47936857T>A | CA356824841 | CNGA1,NIPAL1 | c.1625A>T (p.Glu542Val) c.1637A>T (p.Glu546Val) c.1844A>T (p.Glu615Val) n.478+22153T>A n.563+22153T>A c.1862A>T (p.Glu621Val) | |
4 | g.47936857T>C | CA356824840 | CNGA1,NIPAL1 | c.1625A>G (p.Glu542Gly) c.1637A>G (p.Glu546Gly) c.1844A>G (p.Glu615Gly) n.478+22153T>C n.563+22153T>C c.1862A>G (p.Glu621Gly) | |
4 | g.47936857T>G | CA356824839 | CNGA1,NIPAL1 | c.1625A>C (p.Glu542Ala) c.1637A>C (p.Glu546Ala) c.1844A>C (p.Glu615Ala) n.478+22153T>G n.563+22153T>G c.1862A>C (p.Glu621Ala) | |
4 | g.47936858C>A | CA356824844 | CNGA1,NIPAL1 | c.1624G>T (p.Glu542Ter) c.1636G>T (p.Glu546Ter) c.1843G>T (p.Glu615Ter) n.478+22154C>A n.563+22154C>A c.1861G>T (p.Glu621Ter) | |
4 | g.47936858C= | CA1455551738 | CNGA1,NIPAL1 | c.1624G= (p.Glu542=) c.1636G= (p.Glu546=) c.1843G= (p.Glu615=) n.478+22154C= n.563+22154C= c.1861G= (p.Glu621=) | |
4 | g.47936858C>G | CA356824847 | CNGA1,NIPAL1 | c.1624G>C (p.Glu542Gln) c.1636G>C (p.Glu546Gln) c.1843G>C (p.Glu615Gln) n.478+22154C>G n.563+22154C>G c.1861G>C (p.Glu621Gln) | |
4 | g.47936858C>T | CA356824849 | CNGA1,NIPAL1 | c.1624G>A (p.Glu542Lys) c.1636G>A (p.Glu546Lys) c.1843G>A (p.Glu615Lys) n.478+22154C>T n.563+22154C>T c.1861G>A (p.Glu621Lys) | dbSNP gnomAD v4 |
4 | g.47936859A>C | CA439404130 | CNGA1,NIPAL1 | c.1623T>G (p.Gly541=) c.1635T>G (p.Gly545=) c.1842T>G (p.Gly614=) n.478+22155A>C n.563+22155A>C c.1860T>G (p.Gly620=) | |
4 | g.47936859A>G | CA439404128 | CNGA1,NIPAL1 | c.1623T>C (p.Gly541=) c.1635T>C (p.Gly545=) c.1842T>C (p.Gly614=) n.478+22155A>G n.563+22155A>G c.1860T>C (p.Gly620=) | |
4 | g.47936859A>T | CA439404127 | CNGA1,NIPAL1 | c.1623T>A (p.Gly541=) c.1635T>A (p.Gly545=) c.1842T>A (p.Gly614=) n.478+22155A>T n.563+22155A>T c.1860T>A (p.Gly620=) | |
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 |