| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.98393909_98399093del | CA2499216316 | CNGA3 | c.785-1935_*1838del c.839-1935_*1838del | ClinVar |
| 2 | g.98396739_98396747del | CA2586969730 | CNGA3 | c.1569_1577del (p.Asn523_Gly525del) c.1581_1589del (p.Asn527_Gly529del) c.1515_1523del (p.Asn505_Gly507del) c.1680_1688del (p.Asn560_Gly562del) c.1734_1742del (p.Asn578_Gly580del) | |
| 2 | g.98396739C>A | CA347833832 | CNGA3 | c.1569C>A (p.Asn523Lys) c.1581C>A (p.Asn527Lys) c.1515C>A (p.Asn505Lys) c.1680C>A (p.Asn560Lys) c.1734C>A (p.Asn578Lys) | |
| 2 | g.98396739C= | CA1273420043 | CNGA3 | c.1569C= (p.Asn523=) c.1581C= (p.Asn527=) c.1515C= (p.Asn505=) c.1680C= (p.Asn560=) c.1734C= (p.Asn578=) | |
| 2 | g.98396739C>G | CA347833833 | CNGA3 | c.1569C>G (p.Asn523Lys) c.1581C>G (p.Asn527Lys) c.1515C>G (p.Asn505Lys) c.1680C>G (p.Asn560Lys) c.1734C>G (p.Asn578Lys) | |
| 2 | g.98396739C>T | CA1794038 | CNGA3 | c.1569C>T (p.Asn523=) c.1581C>T (p.Asn527=) c.1515C>T (p.Asn505=) c.1680C>T (p.Asn560=) c.1734C>T (p.Asn578=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.98396740G>A | CA1794039 | CNGA3 | c.1570G>A (p.Glu524Lys) c.1582G>A (p.Glu528Lys) c.1516G>A (p.Glu506Lys) c.1681G>A (p.Glu561Lys) c.1735G>A (p.Glu579Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.98396740G>C | CA52635852 | CNGA3 | c.1570G>C (p.Glu524Gln) c.1582G>C (p.Glu528Gln) c.1516G>C (p.Glu506Gln) c.1681G>C (p.Glu561Gln) c.1735G>C (p.Glu579Gln) | dbSNP |
| 2 | g.98396740G= | CA1273420044 | CNGA3 | c.1570G= (p.Glu524=) c.1582G= (p.Glu528=) c.1516G= (p.Glu506=) c.1681G= (p.Glu561=) c.1735G= (p.Glu579=) | |
| 2 | g.98396740G>T | CA347833834 | CNGA3 | c.1570G>T (p.Glu524Ter) c.1582G>T (p.Glu528Ter) c.1516G>T (p.Glu506Ter) c.1681G>T (p.Glu561Ter) c.1735G>T (p.Glu579Ter) | dbSNP |
| 2 | g.98396741A>C | CA347833835 | CNGA3 | c.1571A>C (p.Glu524Ala) c.1583A>C (p.Glu528Ala) c.1517A>C (p.Glu506Ala) c.1682A>C (p.Glu561Ala) c.1736A>C (p.Glu579Ala) | |
| 2 | g.98396741A>G | CA347833836 | CNGA3 | c.1571A>G (p.Glu524Gly) c.1583A>G (p.Glu528Gly) c.1517A>G (p.Glu506Gly) c.1682A>G (p.Glu561Gly) c.1736A>G (p.Glu579Gly) | |
| 2 | g.98396741A>T | CA347833837 | CNGA3 | c.1571A>T (p.Glu524Val) c.1583A>T (p.Glu528Val) c.1517A>T (p.Glu506Val) c.1682A>T (p.Glu561Val) c.1736A>T (p.Glu579Val) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.98396742G>A | CA427820156 | CNGA3 | c.1572G>A (p.Glu524=) c.1584G>A (p.Glu528=) c.1518G>A (p.Glu506=) c.1683G>A (p.Glu561=) c.1737G>A (p.Glu579=) | |
| 2 | g.98396742G>C | CA347833838 | CNGA3 | c.1572G>C (p.Glu524Asp) c.1584G>C (p.Glu528Asp) c.1518G>C (p.Glu506Asp) c.1683G>C (p.Glu561Asp) c.1737G>C (p.Glu579Asp) | gnomAD v4 |
| 2 | g.98396742G>T | CA347833839 | CNGA3 | c.1572G>T (p.Glu524Asp) c.1584G>T (p.Glu528Asp) c.1518G>T (p.Glu506Asp) c.1683G>T (p.Glu561Asp) c.1737G>T (p.Glu579Asp) | |
| 2 | g.98396743G>A | CA236065 | CNGA3 | c.1573G>A (p.Gly525Ser) c.1585G>A (p.Gly529Ser) c.1519G>A (p.Gly507Ser) c.1684G>A (p.Gly562Ser) c.1738G>A (p.Gly580Ser) | ClinVar dbSNP |
| 2 | g.98396743G>C | CA347833840 | CNGA3 | c.1573G>C (p.Gly525Arg) c.1585G>C (p.Gly529Arg) c.1519G>C (p.Gly507Arg) c.1684G>C (p.Gly562Arg) c.1738G>C (p.Gly580Arg) | |
| 2 | g.98396743G= | CA1273420045 | CNGA3 | c.1573G= (p.Gly525=) c.1585G= (p.Gly529=) c.1519G= (p.Gly507=) c.1684G= (p.Gly562=) c.1738G= (p.Gly580=) | |
| 2 | g.98396743G>T | CA347833841 | CNGA3 | c.1573G>T (p.Gly525Cys) c.1585G>T (p.Gly529Cys) c.1519G>T (p.Gly507Cys) c.1684G>T (p.Gly562Cys) c.1738G>T (p.Gly580Cys) | |
| 2 | g.98396744G>A | CA347833842 | CNGA3 | c.1574G>A (p.Gly525Asp) c.1586G>A (p.Gly529Asp) c.1520G>A (p.Gly507Asp) c.1685G>A (p.Gly562Asp) c.1739G>A (p.Gly580Asp) | gnomAD v4 |
| 2 | g.98396744G>C | CA347833844 | CNGA3 | c.1574G>C (p.Gly525Ala) c.1586G>C (p.Gly529Ala) c.1520G>C (p.Gly507Ala) c.1685G>C (p.Gly562Ala) c.1739G>C (p.Gly580Ala) | |
| 2 | g.98396744G>T | CA347833843 | CNGA3 | c.1574G>T (p.Gly525Val) c.1586G>T (p.Gly529Val) c.1520G>T (p.Gly507Val) c.1685G>T (p.Gly562Val) c.1739G>T (p.Gly580Val) | |
| 2 | g.98396745C>A | CA427820163 | CNGA3 | c.1575C>A (p.Gly525=) c.1587C>A (p.Gly529=) c.1521C>A (p.Gly507=) c.1686C>A (p.Gly562=) c.1740C>A (p.Gly580=) | COSMIC |
| 2 | g.98396745C>G | CA427820166 | CNGA3 | c.1575C>G (p.Gly525=) c.1587C>G (p.Gly529=) c.1521C>G (p.Gly507=) c.1686C>G (p.Gly562=) c.1740C>G (p.Gly580=) | |
| 2 | g.98396745C>T | CA427820167 | CNGA3 | c.1575C>T (p.Gly525=) c.1587C>T (p.Gly529=) c.1521C>T (p.Gly507=) c.1686C>T (p.Gly562=) c.1740C>T (p.Gly580=) | |
| 2 | g.98396746A>C | CA347833845 | CNGA3 | c.1576A>C (p.Lys526Gln) c.1588A>C (p.Lys530Gln) c.1522A>C (p.Lys508Gln) c.1687A>C (p.Lys563Gln) c.1741A>C (p.Lys581Gln) | |
| 2 | g.98396746A>G | CA347833846 | CNGA3 | c.1576A>G (p.Lys526Glu) c.1588A>G (p.Lys530Glu) c.1522A>G (p.Lys508Glu) c.1687A>G (p.Lys563Glu) c.1741A>G (p.Lys581Glu) | |
| 2 | g.98396746A>T | CA347833847 | CNGA3 | c.1576A>T (p.Lys526Ter) c.1588A>T (p.Lys530Ter) c.1522A>T (p.Lys508Ter) c.1687A>T (p.Lys563Ter) c.1741A>T (p.Lys581Ter) | |
| 2 | g.98396746_98396747dup | CA645516632 | CNGA3 | c.1576_1577dup (p.Leu527SerfsTer28) c.1588_1589dup (p.Leu531SerfsTer28) c.1522_1523dup (p.Leu509SerfsTer28) c.1687_1688dup (p.Leu564SerfsTer28) c.1741_1742dup (p.Leu582SerfsTer28) | COSMIC |
| 2 | g.98396747A= | CA1273420046 | CNGA3 | c.1577A= (p.Lys526=) c.1589A= (p.Lys530=) c.1523A= (p.Lys508=) c.1688A= (p.Lys563=) c.1742A= (p.Lys581=) | |
| 2 | g.98396747A>C | CA347833848 | CNGA3 | c.1577A>C (p.Lys526Thr) c.1589A>C (p.Lys530Thr) c.1523A>C (p.Lys508Thr) c.1688A>C (p.Lys563Thr) c.1742A>C (p.Lys581Thr) | COSMIC |
| 2 | g.98396747A>G | CA347833849 | CNGA3 | c.1577A>G (p.Lys526Arg) c.1589A>G (p.Lys530Arg) c.1523A>G (p.Lys508Arg) c.1688A>G (p.Lys563Arg) c.1742A>G (p.Lys581Arg) | |
| 2 | g.98396747A>T | CA1794040 | CNGA3 | c.1577A>T (p.Lys526Met) c.1589A>T (p.Lys530Met) c.1523A>T (p.Lys508Met) c.1688A>T (p.Lys563Met) c.1742A>T (p.Lys581Met) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 2 | g.98396748G>A | CA427820176 | CNGA3 | c.1578G>A (p.Lys526=) c.1590G>A (p.Lys530=) c.1524G>A (p.Lys508=) c.1689G>A (p.Lys563=) c.1743G>A (p.Lys581=) | gnomAD v4 |
| 2 | g.98396748G>C | CA1794041 | CNGA3 | c.1578G>C (p.Lys526Asn) c.1590G>C (p.Lys530Asn) c.1524G>C (p.Lys508Asn) c.1689G>C (p.Lys563Asn) c.1743G>C (p.Lys581Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.98396748G= | CA1273420047 | CNGA3 | c.1578G= (p.Lys526=) c.1590G= (p.Lys530=) c.1524G= (p.Lys508=) c.1689G= (p.Lys563=) c.1743G= (p.Lys581=) | |
| 2 | g.98396748G>T | CA347833850 | CNGA3 | c.1578G>T (p.Lys526Asn) c.1590G>T (p.Lys530Asn) c.1524G>T (p.Lys508Asn) c.1689G>T (p.Lys563Asn) c.1743G>T (p.Lys581Asn) | COSMIC |
| 2 | g.98396749C>A | CA347833851 | CNGA3 | c.1579C>A (p.Leu527Met) c.1591C>A (p.Leu531Met) c.1525C>A (p.Leu509Met) c.1690C>A (p.Leu564Met) c.1744C>A (p.Leu582Met) | ClinVar dbSNP gnomAD v4 |
| 2 | g.98396749C= | CA1273420048 | CNGA3 | c.1579C= (p.Leu527=) c.1591C= (p.Leu531=) c.1525C= (p.Leu509=) c.1690C= (p.Leu564=) c.1744C= (p.Leu582=) | |
| 2 | g.98396749C>G | CA347833852 | CNGA3 | c.1579C>G (p.Leu527Val) c.1591C>G (p.Leu531Val) c.1525C>G (p.Leu509Val) c.1690C>G (p.Leu564Val) c.1744C>G (p.Leu582Val) | |
| 2 | g.98396749C>T | CA1794042 | CNGA3 | c.1579C>T (p.Leu527=) c.1591C>T (p.Leu531=) c.1525C>T (p.Leu509=) c.1690C>T (p.Leu564=) c.1744C>T (p.Leu582=) | dbSNP ExAC gnomAD v2 |
| 2 | g.98396750T>A | CA347833854 | CNGA3 | c.1580T>A (p.Leu527Gln) c.1592T>A (p.Leu531Gln) c.1526T>A (p.Leu509Gln) c.1691T>A (p.Leu564Gln) c.1745T>A (p.Leu582Gln) | |
| 2 | g.98396750T>C | CA347833853 | CNGA3 | c.1580T>C (p.Leu527Pro) c.1592T>C (p.Leu531Pro) c.1526T>C (p.Leu509Pro) c.1691T>C (p.Leu564Pro) c.1745T>C (p.Leu582Pro) | ClinVar dbSNP COSMIC |
| 2 | g.98396750T>G | CA1794043 | CNGA3 | c.1580T>G (p.Leu527Arg) c.1592T>G (p.Leu531Arg) c.1526T>G (p.Leu509Arg) c.1691T>G (p.Leu564Arg) c.1745T>G (p.Leu582Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.98396750T= | CA1273420049 | CNGA3 | c.1580T= (p.Leu527=) c.1592T= (p.Leu531=) c.1526T= (p.Leu509=) c.1691T= (p.Leu564=) c.1745T= (p.Leu582=) | |
| 2 | g.98396751G>A | CA427820183 | CNGA3 | c.1581G>A (p.Leu527=) c.1593G>A (p.Leu531=) c.1527G>A (p.Leu509=) c.1692G>A (p.Leu564=) c.1746G>A (p.Leu582=) | |
| 2 | g.98396751G>C | CA427820184 | CNGA3 | c.1581G>C (p.Leu527=) c.1593G>C (p.Leu531=) c.1527G>C (p.Leu509=) c.1692G>C (p.Leu564=) c.1746G>C (p.Leu582=) | |
| 2 | g.98396751G>T | CA427820185 | CNGA3 | c.1581G>T (p.Leu527=) c.1593G>T (p.Leu531=) c.1527G>T (p.Leu509=) c.1692G>T (p.Leu564=) c.1746G>T (p.Leu582=) | |
| 2 | g.98396752G>A | CA347833855 | CNGA3 | c.1582G>A (p.Ala528Thr) c.1594G>A (p.Ala532Thr) c.1528G>A (p.Ala510Thr) c.1693G>A (p.Ala565Thr) c.1747G>A (p.Ala583Thr) |