| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.98393909_98399093del | CA2499216316 | CNGA3 | c.785-1935_*1838del c.839-1935_*1838del | ClinVar |
| 2 | g.98396839G>A | CA199157 | CNGA3 | c.1669G>A (p.Gly557Arg) c.1681G>A (p.Gly561Arg) c.1615G>A (p.Gly539Arg) c.1780G>A (p.Gly594Arg) c.1834G>A (p.Gly612Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.98396839G>C | CA347834040 | CNGA3 | c.1669G>C (p.Gly557Arg) c.1681G>C (p.Gly561Arg) c.1615G>C (p.Gly539Arg) c.1780G>C (p.Gly594Arg) c.1834G>C (p.Gly612Arg) | |
| 2 | g.98396839G= | CA1273420088 | CNGA3 | c.1669G= (p.Gly557=) c.1681G= (p.Gly561=) c.1615G= (p.Gly539=) c.1780G= (p.Gly594=) c.1834G= (p.Gly612=) | |
| 2 | g.98396839G>T | CA347834039 | CNGA3 | c.1669G>T (p.Gly557Trp) c.1681G>T (p.Gly561Trp) c.1615G>T (p.Gly539Trp) c.1780G>T (p.Gly594Trp) c.1834G>T (p.Gly612Trp) | gnomAD v4 |
| 2 | g.98396840G>A | CA347834041 | CNGA3 | c.1670G>A (p.Gly557Glu) c.1682G>A (p.Gly561Glu) c.1616G>A (p.Gly539Glu) c.1781G>A (p.Gly594Glu) c.1835G>A (p.Gly612Glu) | gnomAD v4 |
| 2 | g.98396840G>C | CA347834043 | CNGA3 | c.1670G>C (p.Gly557Ala) c.1682G>C (p.Gly561Ala) c.1616G>C (p.Gly539Ala) c.1781G>C (p.Gly594Ala) c.1835G>C (p.Gly612Ala) | |
| 2 | g.98396840G>T | CA347834042 | CNGA3 | c.1670G>T (p.Gly557Val) c.1682G>T (p.Gly561Val) c.1616G>T (p.Gly539Val) c.1781G>T (p.Gly594Val) c.1835G>T (p.Gly612Val) | |
| 2 | g.98396841G>A | CA427819787 | CNGA3 | c.1671G>A (p.Gly557=) c.1683G>A (p.Gly561=) c.1617G>A (p.Gly539=) c.1782G>A (p.Gly594=) c.1836G>A (p.Gly612=) | gnomAD v4 |
| 2 | g.98396841G>C | CA427819788 | CNGA3 | c.1671G>C (p.Gly557=) c.1683G>C (p.Gly561=) c.1617G>C (p.Gly539=) c.1782G>C (p.Gly594=) c.1836G>C (p.Gly612=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.98396841G= | CA1273420089 | CNGA3 | c.1671G= (p.Gly557=) c.1683G= (p.Gly561=) c.1617G= (p.Gly539=) c.1782G= (p.Gly594=) c.1836G= (p.Gly612=) | |
| 2 | g.98396841G>T | CA427819789 | CNGA3 | c.1671G>T (p.Gly557=) c.1683G>T (p.Gly561=) c.1617G>T (p.Gly539=) c.1782G>T (p.Gly594=) c.1836G>T (p.Gly612=) | |
| 2 | g.98396842A>C | CA347834044 | CNGA3 | c.1672A>C (p.Ser558Arg) c.1684A>C (p.Ser562Arg) c.1618A>C (p.Ser540Arg) c.1783A>C (p.Ser595Arg) c.1837A>C (p.Ser613Arg) | |
| 2 | g.98396842A>G | CA347834045 | CNGA3 | c.1672A>G (p.Ser558Gly) c.1684A>G (p.Ser562Gly) c.1618A>G (p.Ser540Gly) c.1783A>G (p.Ser595Gly) c.1837A>G (p.Ser613Gly) | |
| 2 | g.98396842A>T | CA347834046 | CNGA3 | c.1672A>T (p.Ser558Cys) c.1684A>T (p.Ser562Cys) c.1618A>T (p.Ser540Cys) c.1783A>T (p.Ser595Cys) c.1837A>T (p.Ser613Cys) | |
| 2 | g.98396843G>A | CA347834047 | CNGA3 | c.1673G>A (p.Ser558Asn) c.1685G>A (p.Ser562Asn) c.1619G>A (p.Ser540Asn) c.1784G>A (p.Ser595Asn) c.1838G>A (p.Ser613Asn) | |
| 2 | g.98396843G>C | CA347834048 | CNGA3 | c.1673G>C (p.Ser558Thr) c.1685G>C (p.Ser562Thr) c.1619G>C (p.Ser540Thr) c.1784G>C (p.Ser595Thr) c.1838G>C (p.Ser613Thr) | ClinVar dbSNP |
| 2 | g.98396843G= | CA1273420090 | CNGA3 | c.1673G= (p.Ser558=) c.1685G= (p.Ser562=) c.1619G= (p.Ser540=) c.1784G= (p.Ser595=) c.1838G= (p.Ser613=) | |
| 2 | g.98396843G>T | CA347834049 | CNGA3 | c.1673G>T (p.Ser558Ile) c.1685G>T (p.Ser562Ile) c.1619G>T (p.Ser540Ile) c.1784G>T (p.Ser595Ile) c.1838G>T (p.Ser613Ile) | |
| 2 | g.98396844C>A | CA347834050 | CNGA3 | c.1674C>A (p.Ser558Arg) c.1686C>A (p.Ser562Arg) c.1620C>A (p.Ser540Arg) c.1785C>A (p.Ser595Arg) c.1839C>A (p.Ser613Arg) | |
| 2 | g.98396844C= | CA1273420091 | CNGA3 | c.1674C= (p.Ser558=) c.1686C= (p.Ser562=) c.1620C= (p.Ser540=) c.1785C= (p.Ser595=) c.1839C= (p.Ser613=) | |
| 2 | g.98396844C>G | CA347834051 | CNGA3 | c.1674C>G (p.Ser558Arg) c.1686C>G (p.Ser562Arg) c.1620C>G (p.Ser540Arg) c.1785C>G (p.Ser595Arg) c.1839C>G (p.Ser613Arg) | |
| 2 | g.98396844C>T | CA427819793 | CNGA3 | c.1674C>T (p.Ser558=) c.1686C>T (p.Ser562=) c.1620C>T (p.Ser540=) c.1785C>T (p.Ser595=) c.1839C>T (p.Ser613=) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.98396845A= | CA1273420092 | CNGA3 | c.1675A= (p.Lys559=) c.1687A= (p.Lys563=) c.1621A= (p.Lys541=) c.1786A= (p.Lys596=) c.1840A= (p.Lys614=) | |
| 2 | g.98396845A>C | CA347834052 | CNGA3 | c.1675A>C (p.Lys559Gln) c.1687A>C (p.Lys563Gln) c.1621A>C (p.Lys541Gln) c.1786A>C (p.Lys596Gln) c.1840A>C (p.Lys614Gln) | |
| 2 | g.98396845A>G | CA347834053 | CNGA3 | c.1675A>G (p.Lys559Glu) c.1687A>G (p.Lys563Glu) c.1621A>G (p.Lys541Glu) c.1786A>G (p.Lys596Glu) c.1840A>G (p.Lys614Glu) | |
| 2 | g.98396845A>T | CA347834054 | CNGA3 | c.1675A>T (p.Lys559Ter) c.1687A>T (p.Lys563Ter) c.1621A>T (p.Lys541Ter) c.1786A>T (p.Lys596Ter) c.1840A>T (p.Lys614Ter) | dbSNP |
| 2 | g.98396846A= | CA1273420093 | CNGA3 | c.1676A= (p.Lys559=) c.1688A= (p.Lys563=) c.1622A= (p.Lys541=) c.1787A= (p.Lys596=) c.1841A= (p.Lys614=) | |
| 2 | g.98396846A>C | CA347834057 | CNGA3 | c.1676A>C (p.Lys559Thr) c.1688A>C (p.Lys563Thr) c.1622A>C (p.Lys541Thr) c.1787A>C (p.Lys596Thr) c.1841A>C (p.Lys614Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.98396846A>G | CA347834055 | CNGA3 | c.1676A>G (p.Lys559Arg) c.1688A>G (p.Lys563Arg) c.1622A>G (p.Lys541Arg) c.1787A>G (p.Lys596Arg) c.1841A>G (p.Lys614Arg) | gnomAD v4 |
| 2 | g.98396846A>T | CA347834056 | CNGA3 | c.1676A>T (p.Lys559Met) c.1688A>T (p.Lys563Met) c.1622A>T (p.Lys541Met) c.1787A>T (p.Lys596Met) c.1841A>T (p.Lys614Met) | |
| 2 | g.98396847G>A | CA427819799 | CNGA3 | c.1677G>A (p.Lys559=) c.1689G>A (p.Lys563=) c.1623G>A (p.Lys541=) c.1788G>A (p.Lys596=) c.1842G>A (p.Lys614=) | |
| 2 | g.98396847G>C | CA347834058 | CNGA3 | c.1677G>C (p.Lys559Asn) c.1689G>C (p.Lys563Asn) c.1623G>C (p.Lys541Asn) c.1788G>C (p.Lys596Asn) c.1842G>C (p.Lys614Asn) | gnomAD v4 |
| 2 | g.98396847G>T | CA347834059 | CNGA3 | c.1677G>T (p.Lys559Asn) c.1689G>T (p.Lys563Asn) c.1623G>T (p.Lys541Asn) c.1788G>T (p.Lys596Asn) c.1842G>T (p.Lys614Asn) | |
| 2 | g.98396848T>A | CA347834060 | CNGA3 | c.1678T>A (p.Ser560Thr) c.1690T>A (p.Ser564Thr) c.1624T>A (p.Ser542Thr) c.1789T>A (p.Ser597Thr) c.1843T>A (p.Ser615Thr) | |
| 2 | g.98396848T>C | CA347834061 | CNGA3 | c.1678T>C (p.Ser560Pro) c.1690T>C (p.Ser564Pro) c.1624T>C (p.Ser542Pro) c.1789T>C (p.Ser597Pro) c.1843T>C (p.Ser615Pro) | dbSNP gnomAD v4 |
| 2 | g.98396848T>G | CA347834062 | CNGA3 | c.1678T>G (p.Ser560Ala) c.1690T>G (p.Ser564Ala) c.1624T>G (p.Ser542Ala) c.1789T>G (p.Ser597Ala) c.1843T>G (p.Ser615Ala) | gnomAD v4 |
| 2 | g.98396848T= | CA1273420094 | CNGA3 | c.1678T= (p.Ser560=) c.1690T= (p.Ser564=) c.1624T= (p.Ser542=) c.1789T= (p.Ser597=) c.1843T= (p.Ser615=) | |
| 2 | g.98396849C>A | CA347834063 | CNGA3 | c.1679C>A (p.Ser560Ter) c.1691C>A (p.Ser564Ter) c.1625C>A (p.Ser542Ter) c.1790C>A (p.Ser597Ter) c.1844C>A (p.Ser615Ter) | ClinVar |
| 2 | g.98396849C= | CA1273420095 | CNGA3 | c.1679C= (p.Ser560=) c.1691C= (p.Ser564=) c.1625C= (p.Ser542=) c.1790C= (p.Ser597=) c.1844C= (p.Ser615=) | |
| 2 | g.98396849C>G | CA347834064 | CNGA3 | c.1679C>G (p.Ser560Trp) c.1691C>G (p.Ser564Trp) c.1625C>G (p.Ser542Trp) c.1790C>G (p.Ser597Trp) c.1844C>G (p.Ser615Trp) | |
| 2 | g.98396849C>T | CA1794064 | CNGA3 | c.1679C>T (p.Ser560Leu) c.1691C>T (p.Ser564Leu) c.1625C>T (p.Ser542Leu) c.1790C>T (p.Ser597Leu) c.1844C>T (p.Ser615Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 2 | g.98396850G>A | CA427819809 | CNGA3 | c.1680G>A (p.Ser560=) c.1692G>A (p.Ser564=) c.1626G>A (p.Ser542=) c.1791G>A (p.Ser597=) c.1845G>A (p.Ser615=) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.98396850G>C | CA427819810 | CNGA3 | c.1680G>C (p.Ser560=) c.1692G>C (p.Ser564=) c.1626G>C (p.Ser542=) c.1791G>C (p.Ser597=) c.1845G>C (p.Ser615=) | gnomAD v4 |
| 2 | g.98396850G= | CA1273420096 | CNGA3 | c.1680G= (p.Ser560=) c.1692G= (p.Ser564=) c.1626G= (p.Ser542=) c.1791G= (p.Ser597=) c.1845G= (p.Ser615=) | |
| 2 | g.98396850G>T | CA427819811 | CNGA3 | c.1680G>T (p.Ser560=) c.1692G>T (p.Ser564=) c.1626G>T (p.Ser542=) c.1791G>T (p.Ser597=) c.1845G>T (p.Ser615=) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.98396851G>A | CA347834065 | CNGA3 | c.1681G>A (p.Gly561Arg) c.1693G>A (p.Gly565Arg) c.1627G>A (p.Gly543Arg) c.1792G>A (p.Gly598Arg) c.1846G>A (p.Gly616Arg) | |
| 2 | g.98396851G>C | CA347834066 | CNGA3 | c.1681G>C (p.Gly561Arg) c.1693G>C (p.Gly565Arg) c.1627G>C (p.Gly543Arg) c.1792G>C (p.Gly598Arg) c.1846G>C (p.Gly616Arg) | |
| 2 | g.98396851G>T | CA347834067 | CNGA3 | c.1681G>T (p.Gly561Trp) c.1693G>T (p.Gly565Trp) c.1627G>T (p.Gly543Trp) c.1792G>T (p.Gly598Trp) c.1846G>T (p.Gly616Trp) | |
| 2 | g.98396852G>A | CA347834069 | CNGA3 | c.1682G>A (p.Gly561Glu) c.1694G>A (p.Gly565Glu) c.1628G>A (p.Gly543Glu) c.1793G>A (p.Gly598Glu) c.1847G>A (p.Gly616Glu) |