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New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.7664291G>A | CA338129756 | CAMTA1 | c.1744G>A (p.Glu582Lys) c.*1595G>A (n.*1595G>A) c.1654G>A (p.Glu552Lys) c.1672G>A (p.Glu558Lys) c.7G>A (p.Glu3Lys) c.*1513G>A (n.*1513G>A) c.1732G>A (p.Glu578Lys) | |
| 1 | g.7664291G>C | CA338129759 | CAMTA1 | c.1744G>C (p.Glu582Gln) c.*1595G>C (n.*1595G>C) c.1654G>C (p.Glu552Gln) c.1672G>C (p.Glu558Gln) c.7G>C (p.Glu3Gln) c.*1513G>C (n.*1513G>C) c.1732G>C (p.Glu578Gln) | |
| 1 | g.7664291G= | CA1151976817 | CAMTA1 | c.1744G= (p.Glu582=) c.*1595G= (n.*1595G=) c.1654G= (p.Glu552=) c.1672G= (p.Glu558=) c.7G= (p.Glu3=) c.*1513G= (n.*1513G=) c.1732G= (p.Glu578=) | |
| 1 | g.7664291G>T | CA16603744 | CAMTA1 | c.1744G>T (p.Glu582Ter) c.*1595G>T (n.*1595G>T) c.1654G>T (p.Glu552Ter) c.1672G>T (p.Glu558Ter) c.7G>T (p.Glu3Ter) c.*1513G>T (n.*1513G>T) c.1732G>T (p.Glu578Ter) | ClinVar dbSNP |
| 1 | g.7664292A>C | CA338129760 | CAMTA1 | c.1745A>C (p.Glu582Ala) c.*1596A>C (n.*1596A>C) c.1655A>C (p.Glu552Ala) c.1673A>C (p.Glu558Ala) c.8A>C (p.Glu3Ala) c.*1514A>C (n.*1514A>C) c.1733A>C (p.Glu578Ala) | |
| 1 | g.7664292A>G | CA338129762 | CAMTA1 | c.1745A>G (p.Glu582Gly) c.*1596A>G (n.*1596A>G) c.1655A>G (p.Glu552Gly) c.1673A>G (p.Glu558Gly) c.8A>G (p.Glu3Gly) c.*1514A>G (n.*1514A>G) c.1733A>G (p.Glu578Gly) | |
| 1 | g.7664292A>T | CA338129770 | CAMTA1 | c.1745A>T (p.Glu582Val) c.*1596A>T (n.*1596A>T) c.1655A>T (p.Glu552Val) c.1673A>T (p.Glu558Val) c.8A>T (p.Glu3Val) c.*1514A>T (n.*1514A>T) c.1733A>T (p.Glu578Val) | |
| 1 | g.7664293G>A | CA416027434 | CAMTA1 | c.1746G>A (p.Glu582=) c.*1597G>A (n.*1597G>A) c.1656G>A (p.Glu552=) c.1674G>A (p.Glu558=) c.9G>A (p.Glu3=) c.*1515G>A (n.*1515G>A) c.1734G>A (p.Glu578=) | |
| 1 | g.7664293G>C | CA338129774 | CAMTA1 | c.1746G>C (p.Glu582Asp) c.*1597G>C (n.*1597G>C) c.1656G>C (p.Glu552Asp) c.1674G>C (p.Glu558Asp) c.9G>C (p.Glu3Asp) c.*1515G>C (n.*1515G>C) c.1734G>C (p.Glu578Asp) | |
| 1 | g.7664293G>T | CA338129776 | CAMTA1 | c.1746G>T (p.Glu582Asp) c.*1597G>T (n.*1597G>T) c.1656G>T (p.Glu552Asp) c.1674G>T (p.Glu558Asp) c.9G>T (p.Glu3Asp) c.*1515G>T (n.*1515G>T) c.1734G>T (p.Glu578Asp) | |
| 1 | g.7664294C>A | CA338129784 | CAMTA1 | c.1747C>A (p.Gln583Lys) c.*1598C>A (n.*1598C>A) c.1657C>A (p.Gln553Lys) c.1675C>A (p.Gln559Lys) c.10C>A (p.Gln4Lys) c.*1516C>A (n.*1516C>A) c.1735C>A (p.Gln579Lys) | |
| 1 | g.7664294C>G | CA338129778 | CAMTA1 | c.1747C>G (p.Gln583Glu) c.*1598C>G (n.*1598C>G) c.1657C>G (p.Gln553Glu) c.1675C>G (p.Gln559Glu) c.10C>G (p.Gln4Glu) c.*1516C>G (n.*1516C>G) c.1735C>G (p.Gln579Glu) | |
| 1 | g.7664294C>T | CA338129781 | CAMTA1 | c.1747C>T (p.Gln583Ter) c.*1598C>T (n.*1598C>T) c.1657C>T (p.Gln553Ter) c.1675C>T (p.Gln559Ter) c.10C>T (p.Gln4Ter) c.*1516C>T (n.*1516C>T) c.1735C>T (p.Gln579Ter) | |
| 1 | g.7664295A>C | CA338129785 | CAMTA1 | c.1748A>C (p.Gln583Pro) c.*1599A>C (n.*1599A>C) c.1658A>C (p.Gln553Pro) c.1676A>C (p.Gln559Pro) c.11A>C (p.Gln4Pro) c.*1517A>C (n.*1517A>C) c.1736A>C (p.Gln579Pro) | |
| 1 | g.7664295A>G | CA338129793 | CAMTA1 | c.1748A>G (p.Gln583Arg) c.*1599A>G (n.*1599A>G) c.1658A>G (p.Gln553Arg) c.1676A>G (p.Gln559Arg) c.11A>G (p.Gln4Arg) c.*1517A>G (n.*1517A>G) c.1736A>G (p.Gln579Arg) | |
| 1 | g.7664295A>T | CA338129794 | CAMTA1 | c.1748A>T (p.Gln583Leu) c.*1599A>T (n.*1599A>T) c.1658A>T (p.Gln553Leu) c.1676A>T (p.Gln559Leu) c.11A>T (p.Gln4Leu) c.*1517A>T (n.*1517A>T) c.1736A>T (p.Gln579Leu) | |
| 1 | g.7664296G>A | CA416027442 | CAMTA1 | c.1749G>A (p.Gln583=) c.*1600G>A (n.*1600G>A) c.1659G>A (p.Gln553=) c.1677G>A (p.Gln559=) c.12G>A (p.Gln4=) c.*1518G>A (n.*1518G>A) c.1737G>A (p.Gln579=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.7664296G>C | CA338129795 | CAMTA1 | c.1749G>C (p.Gln583His) c.*1600G>C (n.*1600G>C) c.1659G>C (p.Gln553His) c.1677G>C (p.Gln559His) c.12G>C (p.Gln4His) c.*1518G>C (n.*1518G>C) c.1737G>C (p.Gln579His) | |
| 1 | g.7664296G= | CA1151976818 | CAMTA1 | c.1749G= (p.Gln583=) c.*1600G= (n.*1600G=) c.1659G= (p.Gln553=) c.1677G= (p.Gln559=) c.12G= (p.Gln4=) c.*1518G= (n.*1518G=) c.1737G= (p.Gln579=) | |
| 1 | g.7664296G>T | CA338129796 | CAMTA1 | c.1749G>T (p.Gln583His) c.*1600G>T (n.*1600G>T) c.1659G>T (p.Gln553His) c.1677G>T (p.Gln559His) c.12G>T (p.Gln4His) c.*1518G>T (n.*1518G>T) c.1737G>T (p.Gln579His) | COSMIC |
| 1 | g.7664297A>C | CA338129798 | CAMTA1 | c.1750A>C (p.Met584Leu) c.*1601A>C (n.*1601A>C) c.1660A>C (p.Met554Leu) c.1678A>C (p.Met560Leu) c.13A>C (p.Met5Leu) c.*1519A>C (n.*1519A>C) c.1738A>C (p.Met580Leu) | |
| 1 | g.7664297A>G | CA338129802 | CAMTA1 | c.1750A>G (p.Met584Val) c.*1601A>G (n.*1601A>G) c.1660A>G (p.Met554Val) c.1678A>G (p.Met560Val) c.13A>G (p.Met5Val) c.*1519A>G (n.*1519A>G) c.1738A>G (p.Met580Val) | gnomAD v4 |
| 1 | g.7664297A>T | CA338129811 | CAMTA1 | c.1750A>T (p.Met584Leu) c.*1601A>T (n.*1601A>T) c.1660A>T (p.Met554Leu) c.1678A>T (p.Met560Leu) c.13A>T (p.Met5Leu) c.*1519A>T (n.*1519A>T) c.1738A>T (p.Met580Leu) | |
| 1 | g.7664298T>A | CA338129817 | CAMTA1 | c.1751T>A (p.Met584Lys) c.*1602T>A (n.*1602T>A) c.1661T>A (p.Met554Lys) c.1679T>A (p.Met560Lys) c.14T>A (p.Met5Lys) c.*1520T>A (n.*1520T>A) c.1739T>A (p.Met580Lys) | |
| 1 | g.7664298T>C | CA338129821 | CAMTA1 | c.1751T>C (p.Met584Thr) c.*1602T>C (n.*1602T>C) c.1661T>C (p.Met554Thr) c.1679T>C (p.Met560Thr) c.14T>C (p.Met5Thr) c.*1520T>C (n.*1520T>C) c.1739T>C (p.Met580Thr) | gnomAD v4 |
| 1 | g.7664298T>G | CA338129823 | CAMTA1 | c.1751T>G (p.Met584Arg) c.*1602T>G (n.*1602T>G) c.1661T>G (p.Met554Arg) c.1679T>G (p.Met560Arg) c.14T>G (p.Met5Arg) c.*1520T>G (n.*1520T>G) c.1739T>G (p.Met580Arg) | |
| 1 | g.7664299G>A | CA338129825 | CAMTA1 | c.1752G>A (p.Met584Ile) c.*1603G>A (n.*1603G>A) c.1662G>A (p.Met554Ile) c.1680G>A (p.Met560Ile) c.15G>A (p.Met5Ile) c.*1521G>A (n.*1521G>A) c.1740G>A (p.Met580Ile) | |
| 1 | g.7664299G>C | CA338129829 | CAMTA1 | c.1752G>C (p.Met584Ile) c.*1603G>C (n.*1603G>C) c.1662G>C (p.Met554Ile) c.1680G>C (p.Met560Ile) c.15G>C (p.Met5Ile) c.*1521G>C (n.*1521G>C) c.1740G>C (p.Met580Ile) | |
| 1 | g.7664299G>T | CA338129827 | CAMTA1 | c.1752G>T (p.Met584Ile) c.*1603G>T (n.*1603G>T) c.1662G>T (p.Met554Ile) c.1680G>T (p.Met560Ile) c.15G>T (p.Met5Ile) c.*1521G>T (n.*1521G>T) c.1740G>T (p.Met580Ile) | |
| 1 | g.7664300G>A | CA338129833 | CAMTA1 | c.1753G>A (p.Asp585Asn) c.*1604G>A (n.*1604G>A) c.1663G>A (p.Asp555Asn) c.1681G>A (p.Asp561Asn) c.16G>A (p.Asp6Asn) c.*1522G>A (n.*1522G>A) c.1741G>A (p.Asp581Asn) | |
| 1 | g.7664300G>C | CA338129868 | CAMTA1 | c.1753G>C (p.Asp585His) c.*1604G>C (n.*1604G>C) c.1663G>C (p.Asp555His) c.1681G>C (p.Asp561His) c.16G>C (p.Asp6His) c.*1522G>C (n.*1522G>C) c.1741G>C (p.Asp581His) | |
| 1 | g.7664300G= | CA1151976820 | CAMTA1 | c.1753G= (p.Asp585=) c.*1604G= (n.*1604G=) c.1663G= (p.Asp555=) c.1681G= (p.Asp561=) c.16G= (p.Asp6=) c.*1522G= (n.*1522G=) c.1741G= (p.Asp581=) | |
| 1 | g.7664300G>T | CA338129843 | CAMTA1 | c.1753G>T (p.Asp585Tyr) c.*1604G>T (n.*1604G>T) c.1663G>T (p.Asp555Tyr) c.1681G>T (p.Asp561Tyr) c.16G>T (p.Asp6Tyr) c.*1522G>T (n.*1522G>T) c.1741G>T (p.Asp581Tyr) | dbSNP COSMIC |
| 1 | g.7664301A>C | CA338129872 | CAMTA1 | c.1754A>C (p.Asp585Ala) c.*1605A>C (n.*1605A>C) c.1664A>C (p.Asp555Ala) c.1682A>C (p.Asp561Ala) c.17A>C (p.Asp6Ala) c.*1523A>C (n.*1523A>C) c.1742A>C (p.Asp581Ala) | |
| 1 | g.7664301A>G | CA338129883 | CAMTA1 | c.1754A>G (p.Asp585Gly) c.*1605A>G (n.*1605A>G) c.1664A>G (p.Asp555Gly) c.1682A>G (p.Asp561Gly) c.17A>G (p.Asp6Gly) c.*1523A>G (n.*1523A>G) c.1742A>G (p.Asp581Gly) | |
| 1 | g.7664301A>T | CA338129880 | CAMTA1 | c.1754A>T (p.Asp585Val) c.*1605A>T (n.*1605A>T) c.1664A>T (p.Asp555Val) c.1682A>T (p.Asp561Val) c.17A>T (p.Asp6Val) c.*1523A>T (n.*1523A>T) c.1742A>T (p.Asp581Val) | |
| 1 | g.7664302C>A | CA338129897 | CAMTA1 | c.1755C>A (p.Asp585Glu) c.*1606C>A (n.*1606C>A) c.1665C>A (p.Asp555Glu) c.1683C>A (p.Asp561Glu) c.18C>A (p.Asp6Glu) c.*1524C>A (n.*1524C>A) c.1743C>A (p.Asp581Glu) | |
| 1 | g.7664302C= | CA1151976823 | CAMTA1 | c.1755C= (p.Asp585=) c.*1606C= (n.*1606C=) c.1665C= (p.Asp555=) c.1683C= (p.Asp561=) c.18C= (p.Asp6=) c.*1524C= (n.*1524C=) c.1743C= (p.Asp581=) | |
| 1 | g.7664302C>G | CA338129926 | CAMTA1 | c.1755C>G (p.Asp585Glu) c.*1606C>G (n.*1606C>G) c.1665C>G (p.Asp555Glu) c.1683C>G (p.Asp561Glu) c.18C>G (p.Asp6Glu) c.*1524C>G (n.*1524C>G) c.1743C>G (p.Asp581Glu) | dbSNP |
| 1 | g.7664302C>T | CA416027456 | CAMTA1 | c.1755C>T (p.Asp585=) c.*1606C>T (n.*1606C>T) c.1665C>T (p.Asp555=) c.1683C>T (p.Asp561=) c.18C>T (p.Asp6=) c.*1524C>T (n.*1524C>T) c.1743C>T (p.Asp581=) | gnomAD v4 |
| 1 | g.7664303T>A | CA338129935 | CAMTA1 | c.1756T>A (p.Phe586Ile) c.*1607T>A (n.*1607T>A) c.1666T>A (p.Phe556Ile) c.1684T>A (p.Phe562Ile) c.19T>A (p.Phe7Ile) c.*1525T>A (n.*1525T>A) c.1744T>A (p.Phe582Ile) | |
| 1 | g.7664303T>C | CA338129938 | CAMTA1 | c.1756T>C (p.Phe586Leu) c.*1607T>C (n.*1607T>C) c.1666T>C (p.Phe556Leu) c.1684T>C (p.Phe562Leu) c.19T>C (p.Phe7Leu) c.*1525T>C (n.*1525T>C) c.1744T>C (p.Phe582Leu) | |
| 1 | g.7664303T>G | CA338129940 | CAMTA1 | c.1756T>G (p.Phe586Val) c.*1607T>G (n.*1607T>G) c.1666T>G (p.Phe556Val) c.1684T>G (p.Phe562Val) c.19T>G (p.Phe7Val) c.*1525T>G (n.*1525T>G) c.1744T>G (p.Phe582Val) | COSMIC |
| 1 | g.7664304T>A | CA338129942 | CAMTA1 | c.1757T>A (p.Phe586Tyr) c.*1608T>A (n.*1608T>A) c.1667T>A (p.Phe556Tyr) c.1685T>A (p.Phe562Tyr) c.20T>A (p.Phe7Tyr) c.*1526T>A (n.*1526T>A) c.1745T>A (p.Phe582Tyr) | |
| 1 | g.7664304T>C | CA338129943 | CAMTA1 | c.1757T>C (p.Phe586Ser) c.*1608T>C (n.*1608T>C) c.1667T>C (p.Phe556Ser) c.1685T>C (p.Phe562Ser) c.20T>C (p.Phe7Ser) c.*1526T>C (n.*1526T>C) c.1745T>C (p.Phe582Ser) | |
| 1 | g.7664304T>G | CA338129945 | CAMTA1 | c.1757T>G (p.Phe586Cys) c.*1608T>G (n.*1608T>G) c.1667T>G (p.Phe556Cys) c.1685T>G (p.Phe562Cys) c.20T>G (p.Phe7Cys) c.*1526T>G (n.*1526T>G) c.1745T>G (p.Phe582Cys) | |
| 1 | g.7664305C>A | CA338129946 | CAMTA1 | c.1758C>A (p.Phe586Leu) c.*1609C>A (n.*1609C>A) c.1668C>A (p.Phe556Leu) c.1686C>A (p.Phe562Leu) c.21C>A (p.Phe7Leu) c.*1527C>A (n.*1527C>A) c.1746C>A (p.Phe582Leu) | |
| 1 | g.7664305C>G | CA338129951 | CAMTA1 | c.1758C>G (p.Phe586Leu) c.*1609C>G (n.*1609C>G) c.1668C>G (p.Phe556Leu) c.1686C>G (p.Phe562Leu) c.21C>G (p.Phe7Leu) c.*1527C>G (n.*1527C>G) c.1746C>G (p.Phe582Leu) | |
| 1 | g.7664305C>T | CA416027467 | CAMTA1 | c.1758C>T (p.Phe586=) c.*1609C>T (n.*1609C>T) c.1668C>T (p.Phe556=) c.1686C>T (p.Phe562=) c.21C>T (p.Phe7=) c.*1527C>T (n.*1527C>T) c.1746C>T (p.Phe582=) | COSMIC |
| 1 | g.7664306A>C | CA338129955 | CAMTA1 | c.1759A>C (p.Ser587Arg) c.*1610A>C (n.*1610A>C) c.1669A>C (p.Ser557Arg) c.1687A>C (p.Ser563Arg) c.22A>C (p.Ser8Arg) c.*1528A>C (n.*1528A>C) c.1747A>C (p.Ser583Arg) | |
| 1 | g.7664306A>G | CA338129956 | CAMTA1 | c.1759A>G (p.Ser587Gly) c.*1610A>G (n.*1610A>G) c.1669A>G (p.Ser557Gly) c.1687A>G (p.Ser563Gly) c.22A>G (p.Ser8Gly) c.*1528A>G (n.*1528A>G) c.1747A>G (p.Ser583Gly) | |
| 1 | g.7664306A>T | CA338129961 | CAMTA1 | c.1759A>T (p.Ser587Cys) c.*1610A>T (n.*1610A>T) c.1669A>T (p.Ser557Cys) c.1687A>T (p.Ser563Cys) c.22A>T (p.Ser8Cys) c.*1528A>T (n.*1528A>T) c.1747A>T (p.Ser583Cys) | |
| 1 | g.7664307G>A | CA338129963 | CAMTA1 | c.1760G>A (p.Ser587Asn) c.*1611G>A (n.*1611G>A) c.1670G>A (p.Ser557Asn) c.1688G>A (p.Ser563Asn) c.23G>A (p.Ser8Asn) c.*1529G>A (n.*1529G>A) c.1748G>A (p.Ser583Asn) | gnomAD v4 |
| 1 | g.7664307G>C | CA338129976 | CAMTA1 | c.1760G>C (p.Ser587Thr) c.*1611G>C (n.*1611G>C) c.1670G>C (p.Ser557Thr) c.1688G>C (p.Ser563Thr) c.23G>C (p.Ser8Thr) c.*1529G>C (n.*1529G>C) c.1748G>C (p.Ser583Thr) | |
| 1 | g.7664307G>T | CA338129974 | CAMTA1 | c.1760G>T (p.Ser587Ile) c.*1611G>T (n.*1611G>T) c.1670G>T (p.Ser557Ile) c.1688G>T (p.Ser563Ile) c.23G>T (p.Ser8Ile) c.*1529G>T (n.*1529G>T) c.1748G>T (p.Ser583Ile) | |
| 1 | g.7664308C>A | CA338129984 | CAMTA1 | c.1761C>A (p.Ser587Arg) c.*1612C>A (n.*1612C>A) c.1671C>A (p.Ser557Arg) c.1689C>A (p.Ser563Arg) c.24C>A (p.Ser8Arg) c.*1530C>A (n.*1530C>A) c.1749C>A (p.Ser583Arg) | |
| 1 | g.7664308C= | CA1143693764 | CAMTA1 | c.1761C= (p.Ser587=) c.*1612C= (n.*1612C=) c.1671C= (p.Ser557=) c.1689C= (p.Ser563=) c.24C= (p.Ser8=) c.*1530C= (n.*1530C=) c.1749C= (p.Ser583=) | |
| 1 | g.7664308C>G | CA338129986 | CAMTA1 | c.1761C>G (p.Ser587Arg) c.*1612C>G (n.*1612C>G) c.1671C>G (p.Ser557Arg) c.1689C>G (p.Ser563Arg) c.24C>G (p.Ser8Arg) c.*1530C>G (n.*1530C>G) c.1749C>G (p.Ser583Arg) | |
| 1 | g.7664308C>T | CA566499 | CAMTA1 | c.1761C>T (p.Ser587=) c.*1612C>T (n.*1612C>T) c.1671C>T (p.Ser557=) c.1689C>T (p.Ser563=) c.24C>T (p.Ser8=) c.*1530C>T (n.*1530C>T) c.1749C>T (p.Ser583=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.7664309G>A | CA566500 | CAMTA1 | c.1762G>A (p.Ala588Thr) c.*1613G>A (n.*1613G>A) c.1672G>A (p.Ala558Thr) c.1690G>A (p.Ala564Thr) c.25G>A (p.Ala9Thr) c.*1531G>A (n.*1531G>A) c.1750G>A (p.Ala584Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 1 | g.7664309G>C | CA338129996 | CAMTA1 | c.1762G>C (p.Ala588Pro) c.*1613G>C (n.*1613G>C) c.1672G>C (p.Ala558Pro) c.1690G>C (p.Ala564Pro) c.25G>C (p.Ala9Pro) c.*1531G>C (n.*1531G>C) c.1750G>C (p.Ala584Pro) | |
| 1 | g.7664309G= | CA1151976830 | CAMTA1 | c.1762G= (p.Ala588=) c.*1613G= (n.*1613G=) c.1672G= (p.Ala558=) c.1690G= (p.Ala564=) c.25G= (p.Ala9=) c.*1531G= (n.*1531G=) c.1750G= (p.Ala584=) | |
| 1 | g.7664309G>T | CA338129997 | CAMTA1 | c.1762G>T (p.Ala588Ser) c.*1613G>T (n.*1613G>T) c.1672G>T (p.Ala558Ser) c.1690G>T (p.Ala564Ser) c.25G>T (p.Ala9Ser) c.*1531G>T (n.*1531G>T) c.1750G>T (p.Ala584Ser) | |
| 1 | g.7664310C>A | CA338130000 | CAMTA1 | c.1763C>A (p.Ala588Asp) c.*1614C>A (n.*1614C>A) c.1673C>A (p.Ala558Asp) c.1691C>A (p.Ala564Asp) c.26C>A (p.Ala9Asp) c.*1532C>A (n.*1532C>A) c.1751C>A (p.Ala584Asp) | |
| 1 | g.7664310C>G | CA338130002 | CAMTA1 | c.1763C>G (p.Ala588Gly) c.*1614C>G (n.*1614C>G) c.1673C>G (p.Ala558Gly) c.1691C>G (p.Ala564Gly) c.26C>G (p.Ala9Gly) c.*1532C>G (n.*1532C>G) c.1751C>G (p.Ala584Gly) | |
| 1 | g.7664310C>T | CA338130004 | CAMTA1 | c.1763C>T (p.Ala588Val) c.*1614C>T (n.*1614C>T) c.1673C>T (p.Ala558Val) c.1691C>T (p.Ala564Val) c.26C>T (p.Ala9Val) c.*1532C>T (n.*1532C>T) c.1751C>T (p.Ala584Val) | |
| 1 | g.7664311C>A | CA416027479 | CAMTA1 | c.1764C>A (p.Ala588=) c.*1615C>A (n.*1615C>A) c.1674C>A (p.Ala558=) c.1692C>A (p.Ala564=) c.27C>A (p.Ala9=) c.*1533C>A (n.*1533C>A) c.1752C>A (p.Ala584=) | |
| 1 | g.7664311C>G | CA416027483 | CAMTA1 | c.1764C>G (p.Ala588=) c.*1615C>G (n.*1615C>G) c.1674C>G (p.Ala558=) c.1692C>G (p.Ala564=) c.27C>G (p.Ala9=) c.*1533C>G (n.*1533C>G) c.1752C>G (p.Ala584=) | |
| 1 | g.7664311C>T | CA416027482 | CAMTA1 | c.1764C>T (p.Ala588=) c.*1615C>T (n.*1615C>T) c.1674C>T (p.Ala558=) c.1692C>T (p.Ala564=) c.27C>T (p.Ala9=) c.*1533C>T (n.*1533C>T) c.1752C>T (p.Ala584=) | |
| 1 | g.7664312A>C | CA338130009 | CAMTA1 | c.1765A>C (p.Ile589Leu) c.*1616A>C (n.*1616A>C) c.1675A>C (p.Ile559Leu) c.1693A>C (p.Ile565Leu) c.28A>C (p.Ile10Leu) c.*1534A>C (n.*1534A>C) c.1753A>C (p.Ile585Leu) | |
| 1 | g.7664312A>G | CA338130006 | CAMTA1 | c.1765A>G (p.Ile589Val) c.*1616A>G (n.*1616A>G) c.1675A>G (p.Ile559Val) c.1693A>G (p.Ile565Val) c.28A>G (p.Ile10Val) c.*1534A>G (n.*1534A>G) c.1753A>G (p.Ile585Val) | |
| 1 | g.7664312A>T | CA338130005 | CAMTA1 | c.1765A>T (p.Ile589Phe) c.*1616A>T (n.*1616A>T) c.1675A>T (p.Ile559Phe) c.1693A>T (p.Ile565Phe) c.28A>T (p.Ile10Phe) c.*1534A>T (n.*1534A>T) c.1753A>T (p.Ile585Phe) | |
| 1 | g.7664313T>A | CA338130012 | CAMTA1 | c.1766T>A (p.Ile589Asn) c.*1617T>A (n.*1617T>A) c.1676T>A (p.Ile559Asn) c.1694T>A (p.Ile565Asn) c.29T>A (p.Ile10Asn) c.*1535T>A (n.*1535T>A) c.1754T>A (p.Ile585Asn) | |
| 1 | g.7664313T>C | CA338130018 | CAMTA1 | c.1766T>C (p.Ile589Thr) c.*1617T>C (n.*1617T>C) c.1676T>C (p.Ile559Thr) c.1694T>C (p.Ile565Thr) c.29T>C (p.Ile10Thr) c.*1535T>C (n.*1535T>C) c.1754T>C (p.Ile585Thr) | |
| 1 | g.7664313T>G | CA338130031 | CAMTA1 | c.1766T>G (p.Ile589Ser) c.*1617T>G (n.*1617T>G) c.1676T>G (p.Ile559Ser) c.1694T>G (p.Ile565Ser) c.29T>G (p.Ile10Ser) c.*1535T>G (n.*1535T>G) c.1754T>G (p.Ile585Ser) | |
| 1 | g.7664314C>A | CA416027487 | CAMTA1 | c.1767C>A (p.Ile589=) c.*1618C>A (n.*1618C>A) c.1677C>A (p.Ile559=) c.1695C>A (p.Ile565=) c.30C>A (p.Ile10=) c.*1536C>A (n.*1536C>A) c.1755C>A (p.Ile585=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.7664314C= | CA1141852512 | CAMTA1 | c.1767C= (p.Ile589=) c.*1618C= (n.*1618C=) c.1677C= (p.Ile559=) c.1695C= (p.Ile565=) c.30C= (p.Ile10=) c.*1536C= (n.*1536C=) c.1755C= (p.Ile585=) | |
| 1 | g.7664314C>G | CA338130034 | CAMTA1 | c.1767C>G (p.Ile589Met) c.*1618C>G (n.*1618C>G) c.1677C>G (p.Ile559Met) c.1695C>G (p.Ile565Met) c.30C>G (p.Ile10Met) c.*1536C>G (n.*1536C>G) c.1755C>G (p.Ile585Met) | |
| 1 | g.7664314C>T | CA566501 | CAMTA1 | c.1767C>T (p.Ile589=) c.*1618C>T (n.*1618C>T) c.1677C>T (p.Ile559=) c.1695C>T (p.Ile565=) c.30C>T (p.Ile10=) c.*1536C>T (n.*1536C>T) c.1755C>T (p.Ile585=) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 1 | g.7664315G>A | CA566502 | CAMTA1 | c.1768G>A (p.Asp590Asn) c.*1619G>A (n.*1619G>A) c.1678G>A (p.Asp560Asn) c.1696G>A (p.Asp566Asn) c.31G>A (p.Asp11Asn) c.*1537G>A (n.*1537G>A) c.1756G>A (p.Asp586Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.7664315G>C | CA338130045 | CAMTA1 | c.1768G>C (p.Asp590His) c.*1619G>C (n.*1619G>C) c.1678G>C (p.Asp560His) c.1696G>C (p.Asp566His) c.31G>C (p.Asp11His) c.*1537G>C (n.*1537G>C) c.1756G>C (p.Asp586His) | |
| 1 | g.7664315G= | CA1151976868 | CAMTA1 | c.1768G= (p.Asp590=) c.*1619G= (n.*1619G=) c.1678G= (p.Asp560=) c.1696G= (p.Asp566=) c.31G= (p.Asp11=) c.*1537G= (n.*1537G=) c.1756G= (p.Asp586=) | |
| 1 | g.7664315G>T | CA338130049 | CAMTA1 | c.1768G>T (p.Asp590Tyr) c.*1619G>T (n.*1619G>T) c.1678G>T (p.Asp560Tyr) c.1696G>T (p.Asp566Tyr) c.31G>T (p.Asp11Tyr) c.*1537G>T (n.*1537G>T) c.1756G>T (p.Asp586Tyr) | gnomAD v4 |
| 1 | g.7664316A>C | CA338130054 | CAMTA1 | c.1769A>C (p.Asp590Ala) c.*1620A>C (n.*1620A>C) c.1679A>C (p.Asp560Ala) c.1697A>C (p.Asp566Ala) c.32A>C (p.Asp11Ala) c.*1538A>C (n.*1538A>C) c.1757A>C (p.Asp586Ala) | |
| 1 | g.7664316A>G | CA338130056 | CAMTA1 | c.1769A>G (p.Asp590Gly) c.*1620A>G (n.*1620A>G) c.1679A>G (p.Asp560Gly) c.1697A>G (p.Asp566Gly) c.32A>G (p.Asp11Gly) c.*1538A>G (n.*1538A>G) c.1757A>G (p.Asp586Gly) | |
| 1 | g.7664316A>T | CA338130060 | CAMTA1 | c.1769A>T (p.Asp590Val) c.*1620A>T (n.*1620A>T) c.1679A>T (p.Asp560Val) c.1697A>T (p.Asp566Val) c.32A>T (p.Asp11Val) c.*1538A>T (n.*1538A>T) c.1757A>T (p.Asp586Val) | |
| 1 | g.7664317C>A | CA338130077 | CAMTA1 | c.1770C>A (p.Asp590Glu) c.*1621C>A (n.*1621C>A) c.1680C>A (p.Asp560Glu) c.1698C>A (p.Asp566Glu) c.33C>A (p.Asp11Glu) c.*1539C>A (n.*1539C>A) c.1758C>A (p.Asp586Glu) | |
| 1 | g.7664317C>G | CA338130078 | CAMTA1 | c.1770C>G (p.Asp590Glu) c.*1621C>G (n.*1621C>G) c.1680C>G (p.Asp560Glu) c.1698C>G (p.Asp566Glu) c.33C>G (p.Asp11Glu) c.*1539C>G (n.*1539C>G) c.1758C>G (p.Asp586Glu) | |
| 1 | g.7664317C>T | CA416027506 | CAMTA1 | c.1770C>T (p.Asp590=) c.*1621C>T (n.*1621C>T) c.1680C>T (p.Asp560=) c.1698C>T (p.Asp566=) c.33C>T (p.Asp11=) c.*1539C>T (n.*1539C>T) c.1758C>T (p.Asp586=) | gnomAD v4 |
| 1 | g.7664318T>A | CA338130082 | CAMTA1 | c.1771T>A (p.Ser591Thr) c.*1622T>A (n.*1622T>A) c.1681T>A (p.Ser561Thr) c.1699T>A (p.Ser567Thr) c.34T>A (p.Ser12Thr) c.*1540T>A (n.*1540T>A) c.1759T>A (p.Ser587Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.7664318T>C | CA338130079 | CAMTA1 | c.1771T>C (p.Ser591Pro) c.*1622T>C (n.*1622T>C) c.1681T>C (p.Ser561Pro) c.1699T>C (p.Ser567Pro) c.34T>C (p.Ser12Pro) c.*1540T>C (n.*1540T>C) c.1759T>C (p.Ser587Pro) | gnomAD v4 |
| 1 | g.7664318T>G | CA338130080 | CAMTA1 | c.1771T>G (p.Ser591Ala) c.*1622T>G (n.*1622T>G) c.1681T>G (p.Ser561Ala) c.1699T>G (p.Ser567Ala) c.34T>G (p.Ser12Ala) c.*1540T>G (n.*1540T>G) c.1759T>G (p.Ser587Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.7664318T= | CA1151976871 | CAMTA1 | c.1771T= (p.Ser591=) c.*1622T= (n.*1622T=) c.1681T= (p.Ser561=) c.1699T= (p.Ser567=) c.34T= (p.Ser12=) c.*1540T= (n.*1540T=) c.1759T= (p.Ser587=) | |
| 1 | g.7664319C>A | CA338130094 | CAMTA1 | c.1772C>A (p.Ser591Tyr) c.*1623C>A (n.*1623C>A) c.1682C>A (p.Ser561Tyr) c.1700C>A (p.Ser567Tyr) c.35C>A (p.Ser12Tyr) c.*1541C>A (n.*1541C>A) c.1760C>A (p.Ser587Tyr) | |
| 1 | g.7664319C>G | CA338130097 | CAMTA1 | c.1772C>G (p.Ser591Cys) c.*1623C>G (n.*1623C>G) c.1682C>G (p.Ser561Cys) c.1700C>G (p.Ser567Cys) c.35C>G (p.Ser12Cys) c.*1541C>G (n.*1541C>G) c.1760C>G (p.Ser587Cys) | |
| 1 | g.7664319C>T | CA338130098 | CAMTA1 | c.1772C>T (p.Ser591Phe) c.*1623C>T (n.*1623C>T) c.1682C>T (p.Ser561Phe) c.1700C>T (p.Ser567Phe) c.35C>T (p.Ser12Phe) c.*1541C>T (n.*1541C>T) c.1760C>T (p.Ser587Phe) | |
| 1 | g.7664320C>A | CA416027518 | CAMTA1 | c.1773C>A (p.Ser591=) c.*1624C>A (n.*1624C>A) c.1683C>A (p.Ser561=) c.1701C>A (p.Ser567=) c.36C>A (p.Ser12=) c.*1542C>A (n.*1542C>A) c.1761C>A (p.Ser587=) | gnomAD v4 |
| 1 | g.7664320C>G | CA416027519 | CAMTA1 | c.1773C>G (p.Ser591=) c.*1624C>G (n.*1624C>G) c.1683C>G (p.Ser561=) c.1701C>G (p.Ser567=) c.36C>G (p.Ser12=) c.*1542C>G (n.*1542C>G) c.1761C>G (p.Ser587=) | |
| 1 | g.7664320C>T | CA416027521 | CAMTA1 | c.1773C>T (p.Ser591=) c.*1624C>T (n.*1624C>T) c.1683C>T (p.Ser561=) c.1701C>T (p.Ser567=) c.36C>T (p.Ser12=) c.*1542C>T (n.*1542C>T) c.1761C>T (p.Ser587=) | |
| 1 | g.7664321A>C | CA338130099 | CAMTA1 | c.1774A>C (p.Asn592His) c.*1625A>C (n.*1625A>C) c.1684A>C (p.Asn562His) c.1702A>C (p.Asn568His) c.37A>C (p.Asn13His) c.*1543A>C (n.*1543A>C) c.1762A>C (p.Asn588His) | |
| 1 | g.7664321A>G | CA338130100 | CAMTA1 | c.1774A>G (p.Asn592Asp) c.*1625A>G (n.*1625A>G) c.1684A>G (p.Asn562Asp) c.1702A>G (p.Asn568Asp) c.37A>G (p.Asn13Asp) c.*1543A>G (n.*1543A>G) c.1762A>G (p.Asn588Asp) | |
| 1 | g.7664321A>T | CA338130101 | CAMTA1 | c.1774A>T (p.Asn592Tyr) c.*1625A>T (n.*1625A>T) c.1684A>T (p.Asn562Tyr) c.1702A>T (p.Asn568Tyr) c.37A>T (p.Asn13Tyr) c.*1543A>T (n.*1543A>T) c.1762A>T (p.Asn588Tyr) | |
| 1 | g.7664322A= | CA1151976882 | CAMTA1 | c.1775A= (p.Asn592=) c.*1626A= (n.*1626A=) c.1685A= (p.Asn562=) c.1703A= (p.Asn568=) c.38A= (p.Asn13=) c.*1544A= (n.*1544A=) c.1763A= (p.Asn588=) | |
| 1 | g.7664322A>C | CA338130104 | CAMTA1 | c.1775A>C (p.Asn592Thr) c.*1626A>C (n.*1626A>C) c.1685A>C (p.Asn562Thr) c.1703A>C (p.Asn568Thr) c.38A>C (p.Asn13Thr) c.*1544A>C (n.*1544A>C) c.1763A>C (p.Asn588Thr) | |
| 1 | g.7664322A>G | CA338130109 | CAMTA1 | c.1775A>G (p.Asn592Ser) c.*1626A>G (n.*1626A>G) c.1685A>G (p.Asn562Ser) c.1703A>G (p.Asn568Ser) c.38A>G (p.Asn13Ser) c.*1544A>G (n.*1544A>G) c.1763A>G (p.Asn588Ser) | dbSNP |
| 1 | g.7664322A>T | CA338130119 | CAMTA1 | c.1775A>T (p.Asn592Ile) c.*1626A>T (n.*1626A>T) c.1685A>T (p.Asn562Ile) c.1703A>T (p.Asn568Ile) c.38A>T (p.Asn13Ile) c.*1544A>T (n.*1544A>T) c.1763A>T (p.Asn588Ile) | |
| 1 | g.7664323C>A | CA338130123 | CAMTA1 | c.1776C>A (p.Asn592Lys) c.*1627C>A (n.*1627C>A) c.1686C>A (p.Asn562Lys) c.1704C>A (p.Asn568Lys) c.39C>A (p.Asn13Lys) c.*1545C>A (n.*1545C>A) c.1764C>A (p.Asn588Lys) | dbSNP |
| 1 | g.7664323C>G | CA338130124 | CAMTA1 | c.1776C>G (p.Asn592Lys) c.*1627C>G (n.*1627C>G) c.1686C>G (p.Asn562Lys) c.1704C>G (p.Asn568Lys) c.39C>G (p.Asn13Lys) c.*1545C>G (n.*1545C>G) c.1764C>G (p.Asn588Lys) | |
| 1 | g.7664323C>T | CA416027530 | CAMTA1 | c.1776C>T (p.Asn592=) c.*1627C>T (n.*1627C>T) c.1686C>T (p.Asn562=) c.1704C>T (p.Asn568=) c.39C>T (p.Asn13=) c.*1545C>T (n.*1545C>T) c.1764C>T (p.Asn588=) | |
| 1 | g.7664324A= | CA1151976886 | CAMTA1 | c.1777A= (p.Lys593=) c.*1628A= (n.*1628A=) c.1687A= (p.Lys563=) c.1705A= (p.Lys569=) c.40A= (p.Lys14=) c.*1546A= (n.*1546A=) c.1765A= (p.Lys589=) | |
| 1 | g.7664324A>C | CA338130133 | CAMTA1 | c.1777A>C (p.Lys593Gln) c.*1628A>C (n.*1628A>C) c.1687A>C (p.Lys563Gln) c.1705A>C (p.Lys569Gln) c.40A>C (p.Lys14Gln) c.*1546A>C (n.*1546A>C) c.1765A>C (p.Lys589Gln) | |
| 1 | g.7664324A>G | CA338130126 | CAMTA1 | c.1777A>G (p.Lys593Glu) c.*1628A>G (n.*1628A>G) c.1687A>G (p.Lys563Glu) c.1705A>G (p.Lys569Glu) c.40A>G (p.Lys14Glu) c.*1546A>G (n.*1546A>G) c.1765A>G (p.Lys589Glu) | dbSNP gnomAD v4 |
| 1 | g.7664324A>T | CA338130125 | CAMTA1 | c.1777A>T (p.Lys593Ter) c.*1628A>T (n.*1628A>T) c.1687A>T (p.Lys563Ter) c.1705A>T (p.Lys569Ter) c.40A>T (p.Lys14Ter) c.*1546A>T (n.*1546A>T) c.1765A>T (p.Lys589Ter) | |
| 1 | g.7664325A>C | CA338130134 | CAMTA1 | c.1778A>C (p.Lys593Thr) c.*1629A>C (n.*1629A>C) c.1688A>C (p.Lys563Thr) c.1706A>C (p.Lys569Thr) c.41A>C (p.Lys14Thr) c.*1547A>C (n.*1547A>C) c.1766A>C (p.Lys589Thr) | |
| 1 | g.7664325A>G | CA338130136 | CAMTA1 | c.1778A>G (p.Lys593Arg) c.*1629A>G (n.*1629A>G) c.1688A>G (p.Lys563Arg) c.1706A>G (p.Lys569Arg) c.41A>G (p.Lys14Arg) c.*1547A>G (n.*1547A>G) c.1766A>G (p.Lys589Arg) | |
| 1 | g.7664325A>T | CA338130135 | CAMTA1 | c.1778A>T (p.Lys593Met) c.*1629A>T (n.*1629A>T) c.1688A>T (p.Lys563Met) c.1706A>T (p.Lys569Met) c.41A>T (p.Lys14Met) c.*1547A>T (n.*1547A>T) c.1766A>T (p.Lys589Met) | |
| 1 | g.7664326G>A | CA416027542 | CAMTA1 | c.1779G>A (p.Lys593=) c.*1630G>A (n.*1630G>A) c.1689G>A (p.Lys563=) c.1707G>A (p.Lys569=) c.42G>A (p.Lys14=) c.*1548G>A (n.*1548G>A) c.1767G>A (p.Lys589=) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.7664326G>C | CA338130139 | CAMTA1 | c.1779G>C (p.Lys593Asn) c.*1630G>C (n.*1630G>C) c.1689G>C (p.Lys563Asn) c.1707G>C (p.Lys569Asn) c.42G>C (p.Lys14Asn) c.*1548G>C (n.*1548G>C) c.1767G>C (p.Lys589Asn) | |
| 1 | g.7664326G= | CA1151976891 | CAMTA1 | c.1779G= (p.Lys593=) c.*1630G= (n.*1630G=) c.1689G= (p.Lys563=) c.1707G= (p.Lys569=) c.42G= (p.Lys14=) c.*1548G= (n.*1548G=) c.1767G= (p.Lys589=) | |
| 1 | g.7664326G>T | CA338130140 | CAMTA1 | c.1779G>T (p.Lys593Asn) c.*1630G>T (n.*1630G>T) c.1689G>T (p.Lys563Asn) c.1707G>T (p.Lys569Asn) c.42G>T (p.Lys14Asn) c.*1548G>T (n.*1548G>T) c.1767G>T (p.Lys589Asn) | |
| 1 | g.7664327del | CA2837994489 | CAMTA1 | c.1780del (p.Asp594ThrfsTer?) c.*1631del (n.*1631del) c.1690del (p.Asp564ThrfsTer?) c.1708del (p.Asp570ThrfsTer?) c.43del (p.Asp15ThrfsTer?) c.*1549del (n.*1549del) c.1768del (p.Asp590ThrfsTer?) | |
| 1 | g.7664326_7664337del | CA2643031709 | CAMTA1 | c.1779_1790del (p.Lys593_Ser597delinsAsn) c.*1630_*1641del (n.*1630_*1641del) c.1689_1700del (p.Lys563_Ser567delinsAsn) c.1707_1718del (p.Lys569_Ser573delinsAsn) c.42_53del (p.Lys14_Ser18delinsAsn) c.*1548_*1559del (n.*1548_*1559del) c.1767_1778del (p.Lys589_Ser593delinsAsn) | gnomAD v4 |
| 1 | g.7664327G>A | CA338130142 | CAMTA1 | c.1780G>A (p.Asp594Asn) c.*1631G>A (n.*1631G>A) c.1690G>A (p.Asp564Asn) c.1708G>A (p.Asp570Asn) c.43G>A (p.Asp15Asn) c.*1549G>A (n.*1549G>A) c.1768G>A (p.Asp590Asn) | gnomAD v4 |
| 1 | g.7664327G>C | CA338130144 | CAMTA1 | c.1780G>C (p.Asp594His) c.*1631G>C (n.*1631G>C) c.1690G>C (p.Asp564His) c.1708G>C (p.Asp570His) c.43G>C (p.Asp15His) c.*1549G>C (n.*1549G>C) c.1768G>C (p.Asp590His) | |
| 1 | g.7664327G>T | CA338130146 | CAMTA1 | c.1780G>T (p.Asp594Tyr) c.*1631G>T (n.*1631G>T) c.1690G>T (p.Asp564Tyr) c.1708G>T (p.Asp570Tyr) c.43G>T (p.Asp15Tyr) c.*1549G>T (n.*1549G>T) c.1768G>T (p.Asp590Tyr) | |
| 1 | g.7664328A>C | CA338130149 | CAMTA1 | c.1781A>C (p.Asp594Ala) c.*1632A>C (n.*1632A>C) c.1691A>C (p.Asp564Ala) c.1709A>C (p.Asp570Ala) c.44A>C (p.Asp15Ala) c.*1550A>C (n.*1550A>C) c.1769A>C (p.Asp590Ala) | |
| 1 | g.7664328A>G | CA338130151 | CAMTA1 | c.1781A>G (p.Asp594Gly) c.*1632A>G (n.*1632A>G) c.1691A>G (p.Asp564Gly) c.1709A>G (p.Asp570Gly) c.44A>G (p.Asp15Gly) c.*1550A>G (n.*1550A>G) c.1769A>G (p.Asp590Gly) | |
| 1 | g.7664328A>T | CA338130153 | CAMTA1 | c.1781A>T (p.Asp594Val) c.*1632A>T (n.*1632A>T) c.1691A>T (p.Asp564Val) c.1709A>T (p.Asp570Val) c.44A>T (p.Asp15Val) c.*1550A>T (n.*1550A>T) c.1769A>T (p.Asp590Val) | |
| 1 | g.7664329C>A | CA338130154 | CAMTA1 | c.1782C>A (p.Asp594Glu) c.*1633C>A (n.*1633C>A) c.1692C>A (p.Asp564Glu) c.1710C>A (p.Asp570Glu) c.45C>A (p.Asp15Glu) c.*1551C>A (n.*1551C>A) c.1770C>A (p.Asp590Glu) | |
| 1 | g.7664329C>G | CA338130156 | CAMTA1 | c.1782C>G (p.Asp594Glu) c.*1633C>G (n.*1633C>G) c.1692C>G (p.Asp564Glu) c.1710C>G (p.Asp570Glu) c.45C>G (p.Asp15Glu) c.*1551C>G (n.*1551C>G) c.1770C>G (p.Asp590Glu) | |
| 1 | g.7664329C>T | CA416027544 | CAMTA1 | c.1782C>T (p.Asp594=) c.*1633C>T (n.*1633C>T) c.1692C>T (p.Asp564=) c.1710C>T (p.Asp570=) c.45C>T (p.Asp15=) c.*1551C>T (n.*1551C>T) c.1770C>T (p.Asp590=) | |
| 1 | g.7664330T>A | CA338130167 | CAMTA1 | c.1783T>A (p.Tyr595Asn) c.*1634T>A (n.*1634T>A) c.1693T>A (p.Tyr565Asn) c.1711T>A (p.Tyr571Asn) c.46T>A (p.Tyr16Asn) c.*1552T>A (n.*1552T>A) c.1771T>A (p.Tyr591Asn) | |
| 1 | g.7664330T>C | CA566503 | CAMTA1 | c.1783T>C (p.Tyr595His) c.*1634T>C (n.*1634T>C) c.1693T>C (p.Tyr565His) c.1711T>C (p.Tyr571His) c.46T>C (p.Tyr16His) c.*1552T>C (n.*1552T>C) c.1771T>C (p.Tyr591His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.7664330T>G | CA338130158 | CAMTA1 | c.1783T>G (p.Tyr595Asp) c.*1634T>G (n.*1634T>G) c.1693T>G (p.Tyr565Asp) c.1711T>G (p.Tyr571Asp) c.46T>G (p.Tyr16Asp) c.*1552T>G (n.*1552T>G) c.1771T>G (p.Tyr591Asp) | |
| 1 | g.7664330T= | CA1151976894 | CAMTA1 | c.1783T= (p.Tyr595=) c.*1634T= (n.*1634T=) c.1693T= (p.Tyr565=) c.1711T= (p.Tyr571=) c.46T= (p.Tyr16=) c.*1552T= (n.*1552T=) c.1771T= (p.Tyr591=) | |
| 1 | g.7664331A>C | CA338130187 | CAMTA1 | c.1784A>C (p.Tyr595Ser) c.*1635A>C (n.*1635A>C) c.1694A>C (p.Tyr565Ser) c.1712A>C (p.Tyr571Ser) c.47A>C (p.Tyr16Ser) c.*1553A>C (n.*1553A>C) c.1772A>C (p.Tyr591Ser) | |
| 1 | g.7664331A>G | CA338130191 | CAMTA1 | c.1784A>G (p.Tyr595Cys) c.*1635A>G (n.*1635A>G) c.1694A>G (p.Tyr565Cys) c.1712A>G (p.Tyr571Cys) c.47A>G (p.Tyr16Cys) c.*1553A>G (n.*1553A>G) c.1772A>G (p.Tyr591Cys) | COSMIC |
| 1 | g.7664331A>T | CA338130193 | CAMTA1 | c.1784A>T (p.Tyr595Phe) c.*1635A>T (n.*1635A>T) c.1694A>T (p.Tyr565Phe) c.1712A>T (p.Tyr571Phe) c.47A>T (p.Tyr16Phe) c.*1553A>T (n.*1553A>T) c.1772A>T (p.Tyr591Phe) | |
| 1 | g.7664332C>A | CA338130212 | CAMTA1 | c.1785C>A (p.Tyr595Ter) c.*1636C>A (n.*1636C>A) c.1695C>A (p.Tyr565Ter) c.1713C>A (p.Tyr571Ter) c.48C>A (p.Tyr16Ter) c.*1554C>A (n.*1554C>A) c.1773C>A (p.Tyr591Ter) | |
| 1 | g.7664332C= | CA1151976895 | CAMTA1 | c.1785C= (p.Tyr595=) c.*1636C= (n.*1636C=) c.1695C= (p.Tyr565=) c.1713C= (p.Tyr571=) c.48C= (p.Tyr16=) c.*1554C= (n.*1554C=) c.1773C= (p.Tyr591=) | |
| 1 | g.7664332C>G | CA338130217 | CAMTA1 | c.1785C>G (p.Tyr595Ter) c.*1636C>G (n.*1636C>G) c.1695C>G (p.Tyr565Ter) c.1713C>G (p.Tyr571Ter) c.48C>G (p.Tyr16Ter) c.*1554C>G (n.*1554C>G) c.1773C>G (p.Tyr591Ter) | |
| 1 | g.7664332C>T | CA566504 | CAMTA1 | c.1785C>T (p.Tyr595=) c.*1636C>T (n.*1636C>T) c.1695C>T (p.Tyr565=) c.1713C>T (p.Tyr571=) c.48C>T (p.Tyr16=) c.*1554C>T (n.*1554C>T) c.1773C>T (p.Tyr591=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.7664333A= | CA1144006075 | CAMTA1 | c.1786A= (p.Thr596=) c.*1637A= (n.*1637A=) c.1696A= (p.Thr566=) c.1714A= (p.Thr572=) c.49A= (p.Thr17=) c.*1555A= (n.*1555A=) c.1774A= (p.Thr592=) | |
| 1 | g.7664333A>C | CA338130222 | CAMTA1 | c.1786A>C (p.Thr596Pro) c.*1637A>C (n.*1637A>C) c.1696A>C (p.Thr566Pro) c.1714A>C (p.Thr572Pro) c.49A>C (p.Thr17Pro) c.*1555A>C (n.*1555A>C) c.1774A>C (p.Thr592Pro) | |
| 1 | g.7664333A>G | CA566505 | CAMTA1 | c.1786A>G (p.Thr596Ala) c.*1637A>G (n.*1637A>G) c.1696A>G (p.Thr566Ala) c.1714A>G (p.Thr572Ala) c.49A>G (p.Thr17Ala) c.*1555A>G (n.*1555A>G) c.1774A>G (p.Thr592Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.7664333A>T | CA338130223 | CAMTA1 | c.1786A>T (p.Thr596Ser) c.*1637A>T (n.*1637A>T) c.1696A>T (p.Thr566Ser) c.1714A>T (p.Thr572Ser) c.49A>T (p.Thr17Ser) c.*1555A>T (n.*1555A>T) c.1774A>T (p.Thr592Ser) | |
| 1 | g.7664334C>A | CA338130226 | CAMTA1 | c.1787C>A (p.Thr596Lys) c.*1638C>A (n.*1638C>A) c.1697C>A (p.Thr566Lys) c.1715C>A (p.Thr572Lys) c.50C>A (p.Thr17Lys) c.*1556C>A (n.*1556C>A) c.1775C>A (p.Thr592Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.7664334C= | CA1143393872 | CAMTA1 | c.1787C= (p.Thr596=) c.*1638C= (n.*1638C=) c.1697C= (p.Thr566=) c.1715C= (p.Thr572=) c.50C= (p.Thr17=) c.*1556C= (n.*1556C=) c.1775C= (p.Thr592=) | |
| 1 | g.7664334C>G | CA566507 | CAMTA1 | c.1787C>G (p.Thr596Arg) c.*1638C>G (n.*1638C>G) c.1697C>G (p.Thr566Arg) c.1715C>G (p.Thr572Arg) c.50C>G (p.Thr17Arg) c.*1556C>G (n.*1556C>G) c.1775C>G (p.Thr592Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.7664334C>T | CA566506 | CAMTA1 | c.1787C>T (p.Thr596Met) c.*1638C>T (n.*1638C>T) c.1697C>T (p.Thr566Met) c.1715C>T (p.Thr572Met) c.50C>T (p.Thr17Met) c.*1556C>T (n.*1556C>T) c.1775C>T (p.Thr592Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.7664335G>A | CA17244834 | CAMTA1 | c.1788G>A (p.Thr596=) c.*1639G>A (n.*1639G>A) c.1698G>A (p.Thr566=) c.1716G>A (p.Thr572=) c.51G>A (p.Thr17=) c.*1557G>A (n.*1557G>A) c.1776G>A (p.Thr592=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.7664335G>C | CA416027565 | CAMTA1 | c.1788G>C (p.Thr596=) c.*1639G>C (n.*1639G>C) c.1698G>C (p.Thr566=) c.1716G>C (p.Thr572=) c.51G>C (p.Thr17=) c.*1557G>C (n.*1557G>C) c.1776G>C (p.Thr592=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.7664335G= | CA1151976911 | CAMTA1 | c.1788G= (p.Thr596=) c.*1639G= (n.*1639G=) c.1698G= (p.Thr566=) c.1716G= (p.Thr572=) c.51G= (p.Thr17=) c.*1557G= (n.*1557G=) c.1776G= (p.Thr592=) | |
| 1 | g.7664335G>T | CA416027567 | CAMTA1 | c.1788G>T (p.Thr596=) c.*1639G>T (n.*1639G>T) c.1698G>T (p.Thr566=) c.1716G>T (p.Thr572=) c.51G>T (p.Thr17=) c.*1557G>T (n.*1557G>T) c.1776G>T (p.Thr592=) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.7664336T>A | CA338130245 | CAMTA1 | c.1789T>A (p.Ser597Thr) c.*1640T>A (n.*1640T>A) c.1699T>A (p.Ser567Thr) c.1717T>A (p.Ser573Thr) c.52T>A (p.Ser18Thr) c.*1558T>A (n.*1558T>A) c.1777T>A (p.Ser593Thr) | |
| 1 | g.7664336T>C | CA338130253 | CAMTA1 | c.1789T>C (p.Ser597Pro) c.*1640T>C (n.*1640T>C) c.1699T>C (p.Ser567Pro) c.1717T>C (p.Ser573Pro) c.52T>C (p.Ser18Pro) c.*1558T>C (n.*1558T>C) c.1777T>C (p.Ser593Pro) | |
| 1 | g.7664336T>G | CA338130244 | CAMTA1 | c.1789T>G (p.Ser597Ala) c.*1640T>G (n.*1640T>G) c.1699T>G (p.Ser567Ala) c.1717T>G (p.Ser573Ala) c.52T>G (p.Ser18Ala) c.*1558T>G (n.*1558T>G) c.1777T>G (p.Ser593Ala) | |
| 1 | g.7664337C>A | CA338130257 | CAMTA1 | c.1790C>A (p.Ser597Tyr) c.*1641C>A (n.*1641C>A) c.1700C>A (p.Ser567Tyr) c.1718C>A (p.Ser573Tyr) c.53C>A (p.Ser18Tyr) c.*1559C>A (n.*1559C>A) c.1778C>A (p.Ser593Tyr) | |
| 1 | g.7664337C>G | CA338130262 | CAMTA1 | c.1790C>G (p.Ser597Cys) c.*1641C>G (n.*1641C>G) c.1700C>G (p.Ser567Cys) c.1718C>G (p.Ser573Cys) c.53C>G (p.Ser18Cys) c.*1559C>G (n.*1559C>G) c.1778C>G (p.Ser593Cys) | gnomAD v4 |
| 1 | g.7664337C>T | CA338130264 | CAMTA1 | c.1790C>T (p.Ser597Phe) c.*1641C>T (n.*1641C>T) c.1700C>T (p.Ser567Phe) c.1718C>T (p.Ser573Phe) c.53C>T (p.Ser18Phe) c.*1559C>T (n.*1559C>T) c.1778C>T (p.Ser593Phe) | gnomAD v4 |
| 1 | g.7664338C>A | CA416027570 | CAMTA1 | c.1791C>A (p.Ser597=) c.*1642C>A (n.*1642C>A) c.1701C>A (p.Ser567=) c.1719C>A (p.Ser573=) c.54C>A (p.Ser18=) c.*1560C>A (n.*1560C>A) c.1779C>A (p.Ser593=) | |
| 1 | g.7664338C= | CA1151976916 | CAMTA1 | c.1791C= (p.Ser597=) c.*1642C= (n.*1642C=) c.1701C= (p.Ser567=) c.1719C= (p.Ser573=) c.54C= (p.Ser18=) c.*1560C= (n.*1560C=) c.1779C= (p.Ser593=) | |
| 1 | g.7664338C>G | CA416027571 | CAMTA1 | c.1791C>G (p.Ser597=) c.*1642C>G (n.*1642C>G) c.1701C>G (p.Ser567=) c.1719C>G (p.Ser573=) c.54C>G (p.Ser18=) c.*1560C>G (n.*1560C>G) c.1779C>G (p.Ser593=) | |
| 1 | g.7664338C>T | CA416027574 | CAMTA1 | c.1791C>T (p.Ser597=) c.*1642C>T (n.*1642C>T) c.1701C>T (p.Ser567=) c.1719C>T (p.Ser573=) c.54C>T (p.Ser18=) c.*1560C>T (n.*1560C>T) c.1779C>T (p.Ser593=) | dbSNP |
| 1 | g.7664339A= | CA1151976920 | CAMTA1 | c.1792A= (p.Ser598=) c.*1643A= (n.*1643A=) c.1702A= (p.Ser568=) c.1720A= (p.Ser574=) c.55A= (p.Ser19=) c.*1561A= (n.*1561A=) c.1780A= (p.Ser594=) | |
| 1 | g.7664339A>C | CA338130267 | CAMTA1 | c.1792A>C (p.Ser598Arg) c.*1643A>C (n.*1643A>C) c.1702A>C (p.Ser568Arg) c.1720A>C (p.Ser574Arg) c.55A>C (p.Ser19Arg) c.*1561A>C (n.*1561A>C) c.1780A>C (p.Ser594Arg) | |
| 1 | g.7664339A>G | CA338130274 | CAMTA1 | c.1792A>G (p.Ser598Gly) c.*1643A>G (n.*1643A>G) c.1702A>G (p.Ser568Gly) c.1720A>G (p.Ser574Gly) c.55A>G (p.Ser19Gly) c.*1561A>G (n.*1561A>G) c.1780A>G (p.Ser594Gly) | dbSNP |
| 1 | g.7664339A>T | CA338130283 | CAMTA1 | c.1792A>T (p.Ser598Cys) c.*1643A>T (n.*1643A>T) c.1702A>T (p.Ser568Cys) c.1720A>T (p.Ser574Cys) c.55A>T (p.Ser19Cys) c.*1561A>T (n.*1561A>T) c.1780A>T (p.Ser594Cys) | |
| 1 | g.7664340G>A | CA338130287 | CAMTA1 | c.1793G>A (p.Ser598Asn) c.*1644G>A (n.*1644G>A) c.1703G>A (p.Ser568Asn) c.1721G>A (p.Ser574Asn) c.56G>A (p.Ser19Asn) c.*1562G>A (n.*1562G>A) c.1781G>A (p.Ser594Asn) | |
| 1 | g.7664340G>C | CA338130295 | CAMTA1 | c.1793G>C (p.Ser598Thr) c.*1644G>C (n.*1644G>C) c.1703G>C (p.Ser568Thr) c.1721G>C (p.Ser574Thr) c.56G>C (p.Ser19Thr) c.*1562G>C (n.*1562G>C) c.1781G>C (p.Ser594Thr) | |
| 1 | g.7664340G>T | CA338130300 | CAMTA1 | c.1793G>T (p.Ser598Ile) c.*1644G>T (n.*1644G>T) c.1703G>T (p.Ser568Ile) c.1721G>T (p.Ser574Ile) c.56G>T (p.Ser19Ile) c.*1562G>T (n.*1562G>T) c.1781G>T (p.Ser594Ile) | |
| 1 | g.7664341C>A | CA338130312 | CAMTA1 | c.1794C>A (p.Ser598Arg) c.*1645C>A (n.*1645C>A) c.1704C>A (p.Ser568Arg) c.1722C>A (p.Ser574Arg) c.57C>A (p.Ser19Arg) c.*1563C>A (n.*1563C>A) c.1782C>A (p.Ser594Arg) | |
| 1 | g.7664341C= | CA1151976924 | CAMTA1 | c.1794C= (p.Ser598=) c.*1645C= (n.*1645C=) c.1704C= (p.Ser568=) c.1722C= (p.Ser574=) c.57C= (p.Ser19=) c.*1563C= (n.*1563C=) c.1782C= (p.Ser594=) | |
| 1 | g.7664341C>G | CA338130324 | CAMTA1 | c.1794C>G (p.Ser598Arg) c.*1645C>G (n.*1645C>G) c.1704C>G (p.Ser568Arg) c.1722C>G (p.Ser574Arg) c.57C>G (p.Ser19Arg) c.*1563C>G (n.*1563C>G) c.1782C>G (p.Ser594Arg) | gnomAD v4 |
| 1 | g.7664341C>T | CA566508 | CAMTA1 | c.1794C>T (p.Ser598=) c.*1645C>T (n.*1645C>T) c.1704C>T (p.Ser568=) c.1722C>T (p.Ser574=) c.57C>T (p.Ser19=) c.*1563C>T (n.*1563C>T) c.1782C>T (p.Ser594=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.7664342T>A | CA338130338 | CAMTA1 | c.1795T>A (p.Phe599Ile) c.*1646T>A (n.*1646T>A) c.1705T>A (p.Phe569Ile) c.1723T>A (p.Phe575Ile) c.58T>A (p.Phe20Ile) c.*1564T>A (n.*1564T>A) c.1783T>A (p.Phe595Ile) | |
| 1 | g.7664342T>C | CA338130342 | CAMTA1 | c.1795T>C (p.Phe599Leu) c.*1646T>C (n.*1646T>C) c.1705T>C (p.Phe569Leu) c.1723T>C (p.Phe575Leu) c.58T>C (p.Phe20Leu) c.*1564T>C (n.*1564T>C) c.1783T>C (p.Phe595Leu) | |
| 1 | g.7664342T>G | CA338130332 | CAMTA1 | c.1795T>G (p.Phe599Val) c.*1646T>G (n.*1646T>G) c.1705T>G (p.Phe569Val) c.1723T>G (p.Phe575Val) c.58T>G (p.Phe20Val) c.*1564T>G (n.*1564T>G) c.1783T>G (p.Phe595Val) | |
| 1 | g.7664343T>A | CA338130346 | CAMTA1 | c.1796T>A (p.Phe599Tyr) c.*1647T>A (n.*1647T>A) c.1706T>A (p.Phe569Tyr) c.1724T>A (p.Phe575Tyr) c.59T>A (p.Phe20Tyr) c.*1565T>A (n.*1565T>A) c.1784T>A (p.Phe595Tyr) | |
| 1 | g.7664343T>C | CA338130362 | CAMTA1 | c.1796T>C (p.Phe599Ser) c.*1647T>C (n.*1647T>C) c.1706T>C (p.Phe569Ser) c.1724T>C (p.Phe575Ser) c.59T>C (p.Phe20Ser) c.*1565T>C (n.*1565T>C) c.1784T>C (p.Phe595Ser) | |
| 1 | g.7664343T>G | CA338130365 | CAMTA1 | c.1796T>G (p.Phe599Cys) c.*1647T>G (n.*1647T>G) c.1706T>G (p.Phe569Cys) c.1724T>G (p.Phe575Cys) c.59T>G (p.Phe20Cys) c.*1565T>G (n.*1565T>G) c.1784T>G (p.Phe595Cys) | |
| 1 | g.7664344C>A | CA338130372 | CAMTA1 | c.1797C>A (p.Phe599Leu) c.*1648C>A (n.*1648C>A) c.1707C>A (p.Phe569Leu) c.1725C>A (p.Phe575Leu) c.60C>A (p.Phe20Leu) c.*1566C>A (n.*1566C>A) c.1785C>A (p.Phe595Leu) | |
| 1 | g.7664344C= | CA1151976925 | CAMTA1 | c.1797C= (p.Phe599=) c.*1648C= (n.*1648C=) c.1707C= (p.Phe569=) c.1725C= (p.Phe575=) c.60C= (p.Phe20=) c.*1566C= (n.*1566C=) c.1785C= (p.Phe595=) | |
| 1 | g.7664344C>G | CA338130391 | CAMTA1 | c.1797C>G (p.Phe599Leu) c.*1648C>G (n.*1648C>G) c.1707C>G (p.Phe569Leu) c.1725C>G (p.Phe575Leu) c.60C>G (p.Phe20Leu) c.*1566C>G (n.*1566C>G) c.1785C>G (p.Phe595Leu) | |
| 1 | g.7664344C>T | CA416027588 | CAMTA1 | c.1797C>T (p.Phe599=) c.*1648C>T (n.*1648C>T) c.1707C>T (p.Phe569=) c.1725C>T (p.Phe575=) c.60C>T (p.Phe20=) c.*1566C>T (n.*1566C>T) c.1785C>T (p.Phe595=) | dbSNP gnomAD v4 |
| 1 | g.7664345A>C | CA338130404 | CAMTA1 | c.1798A>C (p.Ser600Arg) c.*1649A>C (n.*1649A>C) c.1708A>C (p.Ser570Arg) c.1726A>C (p.Ser576Arg) c.61A>C (p.Ser21Arg) c.*1567A>C (n.*1567A>C) c.1786A>C (p.Ser596Arg) | |
| 1 | g.7664345A>G | CA338130394 | CAMTA1 | c.1798A>G (p.Ser600Gly) c.*1649A>G (n.*1649A>G) c.1708A>G (p.Ser570Gly) c.1726A>G (p.Ser576Gly) c.61A>G (p.Ser21Gly) c.*1567A>G (n.*1567A>G) c.1786A>G (p.Ser596Gly) | gnomAD v4 |
| 1 | g.7664345A>T | CA338130402 | CAMTA1 | c.1798A>T (p.Ser600Cys) c.*1649A>T (n.*1649A>T) c.1708A>T (p.Ser570Cys) c.1726A>T (p.Ser576Cys) c.61A>T (p.Ser21Cys) c.*1567A>T (n.*1567A>T) c.1786A>T (p.Ser596Cys) | |
| 1 | g.7664345dup | CA2580062554 | CAMTA1 | c.1798dup (p.Ser600LysfsTer?) c.*1649dup (n.*1649dup) c.1708dup (p.Ser570LysfsTer?) c.1726dup (p.Ser576LysfsTer?) c.61dup (p.Ser21LysfsTer?) c.*1567dup (n.*1567dup) c.1786dup (p.Ser596LysfsTer?) | ClinVar |
| 1 | g.7664346G>A | CA338130410 | CAMTA1 | c.1799G>A (p.Ser600Asn) c.*1650G>A (n.*1650G>A) c.1709G>A (p.Ser570Asn) c.1727G>A (p.Ser576Asn) c.62G>A (p.Ser21Asn) c.*1568G>A (n.*1568G>A) c.1787G>A (p.Ser596Asn) | |
| 1 | g.7664346G>C | CA338130431 | CAMTA1 | c.1799G>C (p.Ser600Thr) c.*1650G>C (n.*1650G>C) c.1709G>C (p.Ser570Thr) c.1727G>C (p.Ser576Thr) c.62G>C (p.Ser21Thr) c.*1568G>C (n.*1568G>C) c.1787G>C (p.Ser596Thr) | |
| 1 | g.7664346G>T | CA338130442 | CAMTA1 | c.1799G>T (p.Ser600Ile) c.*1650G>T (n.*1650G>T) c.1709G>T (p.Ser570Ile) c.1727G>T (p.Ser576Ile) c.62G>T (p.Ser21Ile) c.*1568G>T (n.*1568G>T) c.1787G>T (p.Ser596Ile) | |
| 1 | g.7664347C>A | CA338130451 | CAMTA1 | c.1800C>A (p.Ser600Arg) c.*1651C>A (n.*1651C>A) c.1710C>A (p.Ser570Arg) c.1728C>A (p.Ser576Arg) c.63C>A (p.Ser21Arg) c.*1569C>A (n.*1569C>A) c.1788C>A (p.Ser596Arg) | gnomAD v4 |
| 1 | g.7664347C>G | CA338130472 | CAMTA1 | c.1800C>G (p.Ser600Arg) c.*1651C>G (n.*1651C>G) c.1710C>G (p.Ser570Arg) c.1728C>G (p.Ser576Arg) c.63C>G (p.Ser21Arg) c.*1569C>G (n.*1569C>G) c.1788C>G (p.Ser596Arg) | |
| 1 | g.7664347C>T | CA416027594 | CAMTA1 | c.1800C>T (p.Ser600=) c.*1651C>T (n.*1651C>T) c.1710C>T (p.Ser570=) c.1728C>T (p.Ser576=) c.63C>T (p.Ser21=) c.*1569C>T (n.*1569C>T) c.1788C>T (p.Ser596=) | |
| 1 | g.7664348C>A | CA338130478 | CAMTA1 | c.1801C>A (p.Gln601Lys) c.*1652C>A (n.*1652C>A) c.1711C>A (p.Gln571Lys) c.1729C>A (p.Gln577Lys) c.64C>A (p.Gln22Lys) c.*1570C>A (n.*1570C>A) c.1789C>A (p.Gln597Lys) | |
| 1 | g.7664348C>G | CA338130474 | CAMTA1 | c.1801C>G (p.Gln601Glu) c.*1652C>G (n.*1652C>G) c.1711C>G (p.Gln571Glu) c.1729C>G (p.Gln577Glu) c.64C>G (p.Gln22Glu) c.*1570C>G (n.*1570C>G) c.1789C>G (p.Gln597Glu) | |
| 1 | g.7664348C>T | CA338130473 | CAMTA1 | c.1801C>T (p.Gln601Ter) c.*1652C>T (n.*1652C>T) c.1711C>T (p.Gln571Ter) c.1729C>T (p.Gln577Ter) c.64C>T (p.Gln22Ter) c.*1570C>T (n.*1570C>T) c.1789C>T (p.Gln597Ter) | |
| 1 | g.7664349A= | CA1151976926 | CAMTA1 | c.1802A= (p.Gln601=) c.*1653A= (n.*1653A=) c.1712A= (p.Gln571=) c.1730A= (p.Gln577=) c.65A= (p.Gln22=) c.*1571A= (n.*1571A=) c.1790A= (p.Gln597=) | |
| 1 | g.7664349A>C | CA338130482 | CAMTA1 | c.1802A>C (p.Gln601Pro) c.*1653A>C (n.*1653A>C) c.1712A>C (p.Gln571Pro) c.1730A>C (p.Gln577Pro) c.65A>C (p.Gln22Pro) c.*1571A>C (n.*1571A>C) c.1790A>C (p.Gln597Pro) | |
| 1 | g.7664349A>G | CA338130488 | CAMTA1 | c.1802A>G (p.Gln601Arg) c.*1653A>G (n.*1653A>G) c.1712A>G (p.Gln571Arg) c.1730A>G (p.Gln577Arg) c.65A>G (p.Gln22Arg) c.*1571A>G (n.*1571A>G) c.1790A>G (p.Gln597Arg) | dbSNP |
| 1 | g.7664349A>T | CA338130486 | CAMTA1 | c.1802A>T (p.Gln601Leu) c.*1653A>T (n.*1653A>T) c.1712A>T (p.Gln571Leu) c.1730A>T (p.Gln577Leu) c.65A>T (p.Gln22Leu) c.*1571A>T (n.*1571A>T) c.1790A>T (p.Gln597Leu) | gnomAD v4 |
| 1 | g.7664350G>A | CA416027600 | CAMTA1 | c.1803G>A (p.Gln601=) c.*1654G>A (n.*1654G>A) c.1713G>A (p.Gln571=) c.1731G>A (p.Gln577=) c.66G>A (p.Gln22=) c.*1572G>A (n.*1572G>A) c.1791G>A (p.Gln597=) | |
| 1 | g.7664350G>C | CA338130493 | CAMTA1 | c.1803G>C (p.Gln601His) c.*1654G>C (n.*1654G>C) c.1713G>C (p.Gln571His) c.1731G>C (p.Gln577His) c.66G>C (p.Gln22His) c.*1572G>C (n.*1572G>C) c.1791G>C (p.Gln597His) | gnomAD v4 |
| 1 | g.7664350G>T | CA338130496 | CAMTA1 | c.1803G>T (p.Gln601His) c.*1654G>T (n.*1654G>T) c.1713G>T (p.Gln571His) c.1731G>T (p.Gln577His) c.66G>T (p.Gln22His) c.*1572G>T (n.*1572G>T) c.1791G>T (p.Gln597His) | |
| 1 | g.7664351A= | CA1151976927 | CAMTA1 | c.1804A= (p.Thr602=) c.*1655A= (n.*1655A=) c.1714A= (p.Thr572=) c.1732A= (p.Thr578=) c.67A= (p.Thr23=) c.*1573A= (n.*1573A=) c.1792A= (p.Thr598=) | |
| 1 | g.7664351A>C | CA338130500 | CAMTA1 | c.1804A>C (p.Thr602Pro) c.*1655A>C (n.*1655A>C) c.1714A>C (p.Thr572Pro) c.1732A>C (p.Thr578Pro) c.67A>C (p.Thr23Pro) c.*1573A>C (n.*1573A>C) c.1792A>C (p.Thr598Pro) | |
| 1 | g.7664351A>G | CA338130505 | CAMTA1 | c.1804A>G (p.Thr602Ala) c.*1655A>G (n.*1655A>G) c.1714A>G (p.Thr572Ala) c.1732A>G (p.Thr578Ala) c.67A>G (p.Thr23Ala) c.*1573A>G (n.*1573A>G) c.1792A>G (p.Thr598Ala) | dbSNP |
| 1 | g.7664351A>T | CA338130502 | CAMTA1 | c.1804A>T (p.Thr602Ser) c.*1655A>T (n.*1655A>T) c.1714A>T (p.Thr572Ser) c.1732A>T (p.Thr578Ser) c.67A>T (p.Thr23Ser) c.*1573A>T (n.*1573A>T) c.1792A>T (p.Thr598Ser) | |
| 1 | g.7664352C>A | CA338130517 | CAMTA1 | c.1805C>A (p.Thr602Lys) c.*1656C>A (n.*1656C>A) c.1715C>A (p.Thr572Lys) c.1733C>A (p.Thr578Lys) c.68C>A (p.Thr23Lys) c.*1574C>A (n.*1574C>A) c.1793C>A (p.Thr598Lys) | |
| 1 | g.7664352C= | CA1142372824 | CAMTA1 | c.1805C= (p.Thr602=) c.*1656C= (n.*1656C=) c.1715C= (p.Thr572=) c.1733C= (p.Thr578=) c.68C= (p.Thr23=) c.*1574C= (n.*1574C=) c.1793C= (p.Thr598=) | |
| 1 | g.7664352C>G | CA338130522 | CAMTA1 | c.1805C>G (p.Thr602Arg) c.*1656C>G (n.*1656C>G) c.1715C>G (p.Thr572Arg) c.1733C>G (p.Thr578Arg) c.68C>G (p.Thr23Arg) c.*1574C>G (n.*1574C>G) c.1793C>G (p.Thr598Arg) | |
| 1 | g.7664352C>T | CA566509 | CAMTA1 | c.1805C>T (p.Thr602Met) c.*1656C>T (n.*1656C>T) c.1715C>T (p.Thr572Met) c.1733C>T (p.Thr578Met) c.68C>T (p.Thr23Met) c.*1574C>T (n.*1574C>T) c.1793C>T (p.Thr598Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.7664353G>A | CA566510 | CAMTA1 | c.1806G>A (p.Thr602=) c.*1657G>A (n.*1657G>A) c.1716G>A (p.Thr572=) c.1734G>A (p.Thr578=) c.69G>A (p.Thr23=) c.*1575G>A (n.*1575G>A) c.1794G>A (p.Thr598=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.7664353G>C | CA416027616 | CAMTA1 | c.1806G>C (p.Thr602=) c.*1657G>C (n.*1657G>C) c.1716G>C (p.Thr572=) c.1734G>C (p.Thr578=) c.69G>C (p.Thr23=) c.*1575G>C (n.*1575G>C) c.1794G>C (p.Thr598=) | |
| 1 | g.7664353G= | CA1140076851 | CAMTA1 | c.1806G= (p.Thr602=) c.*1657G= (n.*1657G=) c.1716G= (p.Thr572=) c.1734G= (p.Thr578=) c.69G= (p.Thr23=) c.*1575G= (n.*1575G=) c.1794G= (p.Thr598=) | |
| 1 | g.7664353G>T | CA416027608 | CAMTA1 | c.1806G>T (p.Thr602=) c.*1657G>T (n.*1657G>T) c.1716G>T (p.Thr572=) c.1734G>T (p.Thr578=) c.69G>T (p.Thr23=) c.*1575G>T (n.*1575G>T) c.1794G>T (p.Thr598=) | |
| 1 | g.7664354G>A | CA338130529 | CAMTA1 | c.1807G>A (p.Gly603Ser) c.*1658G>A (n.*1658G>A) c.1717G>A (p.Gly573Ser) c.1735G>A (p.Gly579Ser) c.70G>A (p.Gly24Ser) c.*1576G>A (n.*1576G>A) c.1795G>A (p.Gly599Ser) | |
| 1 | g.7664354G>C | CA338130530 | CAMTA1 | c.1807G>C (p.Gly603Arg) c.*1658G>C (n.*1658G>C) c.1717G>C (p.Gly573Arg) c.1735G>C (p.Gly579Arg) c.70G>C (p.Gly24Arg) c.*1576G>C (n.*1576G>C) c.1795G>C (p.Gly599Arg) | |
| 1 | g.7664354G>T | CA338130531 | CAMTA1 | c.1807G>T (p.Gly603Cys) c.*1658G>T (n.*1658G>T) c.1717G>T (p.Gly573Cys) c.1735G>T (p.Gly579Cys) c.70G>T (p.Gly24Cys) c.*1576G>T (n.*1576G>T) c.1795G>T (p.Gly599Cys) | |
| 1 | g.7664354_7664360delinsGGCCACA | CA1151976936 | CAMTA1 | c.1807_1813delinsGGCCACA (p.Gly603=) c.*1658_*1664delinsGGCCACA (n.*1658_*1664delinsGGCCACA) c.1717_1723delinsGGCCACA (p.Gly573=) c.1735_1741delinsGGCCACA (p.Gly579=) c.70_76delinsGGCCACA (p.Gly24=) c.*1576_*1582delinsGGCCACA (n.*1576_*1582delinsGGCCACA) c.1795_1801delinsGGCCACA (p.Gly599=) | |
| 1 | g.7664355G>A | CA338130532 | CAMTA1 | c.1808G>A (p.Gly603Asp) c.*1659G>A (n.*1659G>A) c.1718G>A (p.Gly573Asp) c.1736G>A (p.Gly579Asp) c.71G>A (p.Gly24Asp) c.*1577G>A (n.*1577G>A) c.1796G>A (p.Gly599Asp) | gnomAD v4 |
| 1 | g.7664355G>C | CA566511 | CAMTA1 | c.1808G>C (p.Gly603Ala) c.*1659G>C (n.*1659G>C) c.1718G>C (p.Gly573Ala) c.1736G>C (p.Gly579Ala) c.71G>C (p.Gly24Ala) c.*1577G>C (n.*1577G>C) c.1796G>C (p.Gly599Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.7664355G= | CA1151976944 | CAMTA1 | c.1808G= (p.Gly603=) c.*1659G= (n.*1659G=) c.1718G= (p.Gly573=) c.1736G= (p.Gly579=) c.71G= (p.Gly24=) c.*1577G= (n.*1577G=) c.1796G= (p.Gly599=) | |
| 1 | g.7664355G>T | CA338130575 | CAMTA1 | c.1808G>T (p.Gly603Val) c.*1659G>T (n.*1659G>T) c.1718G>T (p.Gly573Val) c.1736G>T (p.Gly579Val) c.71G>T (p.Gly24Val) c.*1577G>T (n.*1577G>T) c.1796G>T (p.Gly599Val) | |
| 1 | g.7664358_7664363del | CA1151976942 | CAMTA1 | c.1811_1816del (p.His604_Ser605del) c.*1662_*1667del (n.*1662_*1667del) c.1721_1726del (p.His574_Ser575del) c.1739_1744del (p.His580_Ser581del) c.74_79del (p.His25_Ser26del) c.*1580_*1585del (n.*1580_*1585del) c.1799_1804del (p.His600_Ser601del) | dbSNP |
| 1 | g.7664356C>A | CA416027620 | CAMTA1 | c.1809C>A (p.Gly603=) c.*1660C>A (n.*1660C>A) c.1719C>A (p.Gly573=) c.1737C>A (p.Gly579=) c.72C>A (p.Gly24=) c.*1578C>A (n.*1578C>A) c.1797C>A (p.Gly599=) | gnomAD v4 |
| 1 | g.7664356C>G | CA416027624 | CAMTA1 | c.1809C>G (p.Gly603=) c.*1660C>G (n.*1660C>G) c.1719C>G (p.Gly573=) c.1737C>G (p.Gly579=) c.72C>G (p.Gly24=) c.*1578C>G (n.*1578C>G) c.1797C>G (p.Gly599=) | |
| 1 | g.7664356C>T | CA416027625 | CAMTA1 | c.1809C>T (p.Gly603=) c.*1660C>T (n.*1660C>T) c.1719C>T (p.Gly573=) c.1737C>T (p.Gly579=) c.72C>T (p.Gly24=) c.*1578C>T (n.*1578C>T) c.1797C>T (p.Gly599=) | |
| 1 | g.7664357C>A | CA338130599 | CAMTA1 | c.1810C>A (p.His604Asn) c.*1661C>A (n.*1661C>A) c.1720C>A (p.His574Asn) c.1738C>A (p.His580Asn) c.73C>A (p.His25Asn) c.*1579C>A (n.*1579C>A) c.1798C>A (p.His600Asn) | |
| 1 | g.7664357C>G | CA338130584 | CAMTA1 | c.1810C>G (p.His604Asp) c.*1661C>G (n.*1661C>G) c.1720C>G (p.His574Asp) c.1738C>G (p.His580Asp) c.73C>G (p.His25Asp) c.*1579C>G (n.*1579C>G) c.1798C>G (p.His600Asp) | |
| 1 | g.7664357C>T | CA338130587 | CAMTA1 | c.1810C>T (p.His604Tyr) c.*1661C>T (n.*1661C>T) c.1720C>T (p.His574Tyr) c.1738C>T (p.His580Tyr) c.73C>T (p.His25Tyr) c.*1579C>T (n.*1579C>T) c.1798C>T (p.His600Tyr) | |
| 1 | g.7664358A>C | CA338130602 | CAMTA1 | c.1811A>C (p.His604Pro) c.*1662A>C (n.*1662A>C) c.1721A>C (p.His574Pro) c.1739A>C (p.His580Pro) c.74A>C (p.His25Pro) c.*1580A>C (n.*1580A>C) c.1799A>C (p.His600Pro) | |
| 1 | g.7664358A>G | CA338130605 | CAMTA1 | c.1811A>G (p.His604Arg) c.*1662A>G (n.*1662A>G) c.1721A>G (p.His574Arg) c.1739A>G (p.His580Arg) c.74A>G (p.His25Arg) c.*1580A>G (n.*1580A>G) c.1799A>G (p.His600Arg) | |
| 1 | g.7664358A>T | CA338130608 | CAMTA1 | c.1811A>T (p.His604Leu) c.*1662A>T (n.*1662A>T) c.1721A>T (p.His574Leu) c.1739A>T (p.His580Leu) c.74A>T (p.His25Leu) c.*1580A>T (n.*1580A>T) c.1799A>T (p.His600Leu) | |
| 1 | g.7664359C>A | CA338130612 | CAMTA1 | c.1812C>A (p.His604Gln) c.*1663C>A (n.*1663C>A) c.1722C>A (p.His574Gln) c.1740C>A (p.His580Gln) c.75C>A (p.His25Gln) c.*1581C>A (n.*1581C>A) c.1800C>A (p.His600Gln) | |
| 1 | g.7664359C= | CA1151976948 | CAMTA1 | c.1812C= (p.His604=) c.*1663C= (n.*1663C=) c.1722C= (p.His574=) c.1740C= (p.His580=) c.75C= (p.His25=) c.*1581C= (n.*1581C=) c.1800C= (p.His600=) | |
| 1 | g.7664359C>G | CA338130616 | CAMTA1 | c.1812C>G (p.His604Gln) c.*1663C>G (n.*1663C>G) c.1722C>G (p.His574Gln) c.1740C>G (p.His580Gln) c.75C>G (p.His25Gln) c.*1581C>G (n.*1581C>G) c.1800C>G (p.His600Gln) | |
| 1 | g.7664359C>T | CA416027629 | CAMTA1 | c.1812C>T (p.His604=) c.*1663C>T (n.*1663C>T) c.1722C>T (p.His574=) c.1740C>T (p.His580=) c.75C>T (p.His25=) c.*1581C>T (n.*1581C>T) c.1800C>T (p.His600=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.7664360A>C | CA338130621 | CAMTA1 | c.1813A>C (p.Ser605Arg) c.*1664A>C (n.*1664A>C) c.1723A>C (p.Ser575Arg) c.1741A>C (p.Ser581Arg) c.76A>C (p.Ser26Arg) c.*1582A>C (n.*1582A>C) c.1801A>C (p.Ser601Arg) | |
| 1 | g.7664360A>G | CA338130628 | CAMTA1 | c.1813A>G (p.Ser605Gly) c.*1664A>G (n.*1664A>G) c.1723A>G (p.Ser575Gly) c.1741A>G (p.Ser581Gly) c.76A>G (p.Ser26Gly) c.*1582A>G (n.*1582A>G) c.1801A>G (p.Ser601Gly) | |
| 1 | g.7664360A>T | CA338130627 | CAMTA1 | c.1813A>T (p.Ser605Cys) c.*1664A>T (n.*1664A>T) c.1723A>T (p.Ser575Cys) c.1741A>T (p.Ser581Cys) c.76A>T (p.Ser26Cys) c.*1582A>T (n.*1582A>T) c.1801A>T (p.Ser601Cys) | |
| 1 | g.7664361G>A | CA338130629 | CAMTA1 | c.1814G>A (p.Ser605Asn) c.*1665G>A (n.*1665G>A) c.1724G>A (p.Ser575Asn) c.1742G>A (p.Ser581Asn) c.77G>A (p.Ser26Asn) c.*1583G>A (n.*1583G>A) c.1802G>A (p.Ser601Asn) | |
| 1 | g.7664361G>C | CA338130630 | CAMTA1 | c.1814G>C (p.Ser605Thr) c.*1665G>C (n.*1665G>C) c.1724G>C (p.Ser575Thr) c.1742G>C (p.Ser581Thr) c.77G>C (p.Ser26Thr) c.*1583G>C (n.*1583G>C) c.1802G>C (p.Ser601Thr) | |
| 1 | g.7664361G= | CA1151976953 | CAMTA1 | c.1814G= (p.Ser605=) c.*1665G= (n.*1665G=) c.1724G= (p.Ser575=) c.1742G= (p.Ser581=) c.77G= (p.Ser26=) c.*1583G= (n.*1583G=) c.1802G= (p.Ser601=) | |
| 1 | g.7664361G>T | CA338130631 | CAMTA1 | c.1814G>T (p.Ser605Ile) c.*1665G>T (n.*1665G>T) c.1724G>T (p.Ser575Ile) c.1742G>T (p.Ser581Ile) c.77G>T (p.Ser26Ile) c.*1583G>T (n.*1583G>T) c.1802G>T (p.Ser601Ile) | |
| 1 | g.7664362C>A | CA338130632 | CAMTA1 | c.1815C>A (p.Ser605Arg) c.*1666C>A (n.*1666C>A) c.1725C>A (p.Ser575Arg) c.1743C>A (p.Ser581Arg) c.78C>A (p.Ser26Arg) c.*1584C>A (n.*1584C>A) c.1803C>A (p.Ser601Arg) | |
| 1 | g.7664362C= | CA1151976959 | CAMTA1 | c.1815C= (p.Ser605=) c.*1666C= (n.*1666C=) c.1725C= (p.Ser575=) c.1743C= (p.Ser581=) c.78C= (p.Ser26=) c.*1584C= (n.*1584C=) c.1803C= (p.Ser601=) | |
| 1 | g.7664362C>G | CA338130636 | CAMTA1 | c.1815C>G (p.Ser605Arg) c.*1666C>G (n.*1666C>G) c.1725C>G (p.Ser575Arg) c.1743C>G (p.Ser581Arg) c.78C>G (p.Ser26Arg) c.*1584C>G (n.*1584C>G) c.1803C>G (p.Ser601Arg) | |
| 1 | g.7664362C>T | CA416027639 | CAMTA1 | c.1815C>T (p.Ser605=) c.*1666C>T (n.*1666C>T) c.1725C>T (p.Ser575=) c.1743C>T (p.Ser581=) c.78C>T (p.Ser26=) c.*1584C>T (n.*1584C>T) c.1803C>T (p.Ser601=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.7664366dup | CA2840116709 | CAMTA1 | c.1819dup (p.His607ProfsTer?) c.*1670dup (n.*1670dup) c.1729dup (p.His577ProfsTer?) c.1747dup (p.His583ProfsTer?) c.82dup (p.His28ProfsTer?) c.*1588dup (n.*1588dup) c.1807dup (p.His603ProfsTer?) | |
| 1 | g.7664365_7664366dup | CA521019648 | CAMTA1 | c.1818_1819dup (p.His607ProfsTer30) c.*1669_*1670dup (n.*1669_*1670dup) c.1728_1729dup (p.His577ProfsTer30) c.1746_1747dup (p.His583ProfsTer30) c.81_82dup (p.His28ProfsTer30) c.*1587_*1588dup (n.*1587_*1588dup) c.1806_1807dup (p.His603ProfsTer30) | dbSNP gnomAD v2 |
| 1 | g.7664363C>A | CA338130660 | CAMTA1 | c.1816C>A (p.Pro606Thr) c.*1667C>A (n.*1667C>A) c.1726C>A (p.Pro576Thr) c.1744C>A (p.Pro582Thr) c.79C>A (p.Pro27Thr) c.*1585C>A (n.*1585C>A) c.1804C>A (p.Pro602Thr) | dbSNP |
| 1 | g.7664363C= | CA1151976963 | CAMTA1 | c.1816C= (p.Pro606=) c.*1667C= (n.*1667C=) c.1726C= (p.Pro576=) c.1744C= (p.Pro582=) c.79C= (p.Pro27=) c.*1585C= (n.*1585C=) c.1804C= (p.Pro602=) | |
| 1 | g.7664363C>G | CA338130666 | CAMTA1 | c.1816C>G (p.Pro606Ala) c.*1667C>G (n.*1667C>G) c.1726C>G (p.Pro576Ala) c.1744C>G (p.Pro582Ala) c.79C>G (p.Pro27Ala) c.*1585C>G (n.*1585C>G) c.1804C>G (p.Pro602Ala) | |
| 1 | g.7664363C>T | CA338130668 | CAMTA1 | c.1816C>T (p.Pro606Ser) c.*1667C>T (n.*1667C>T) c.1726C>T (p.Pro576Ser) c.1744C>T (p.Pro582Ser) c.79C>T (p.Pro27Ser) c.*1585C>T (n.*1585C>T) c.1804C>T (p.Pro602Ser) | |
| 1 | g.7664364C>A | CA338130670 | CAMTA1 | c.1817C>A (p.Pro606His) c.*1668C>A (n.*1668C>A) c.1727C>A (p.Pro576His) c.1745C>A (p.Pro582His) c.80C>A (p.Pro27His) c.*1586C>A (n.*1586C>A) c.1805C>A (p.Pro602His) | |
| 1 | g.7664364C= | CA1151976969 | CAMTA1 | c.1817C= (p.Pro606=) c.*1668C= (n.*1668C=) c.1727C= (p.Pro576=) c.1745C= (p.Pro582=) c.80C= (p.Pro27=) c.*1586C= (n.*1586C=) c.1805C= (p.Pro602=) | |
| 1 | g.7664364C>G | CA338130673 | CAMTA1 | c.1817C>G (p.Pro606Arg) c.*1668C>G (n.*1668C>G) c.1727C>G (p.Pro576Arg) c.1745C>G (p.Pro582Arg) c.80C>G (p.Pro27Arg) c.*1586C>G (n.*1586C>G) c.1805C>G (p.Pro602Arg) | |
| 1 | g.7664364C>T | CA338130677 | CAMTA1 | c.1817C>T (p.Pro606Leu) c.*1668C>T (n.*1668C>T) c.1727C>T (p.Pro576Leu) c.1745C>T (p.Pro582Leu) c.80C>T (p.Pro27Leu) c.*1586C>T (n.*1586C>T) c.1805C>T (p.Pro602Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.7664365C>A | CA416027645 | CAMTA1 | c.1818C>A (p.Pro606=) c.*1669C>A (n.*1669C>A) c.1728C>A (p.Pro576=) c.1746C>A (p.Pro582=) c.81C>A (p.Pro27=) c.*1587C>A (n.*1587C>A) c.1806C>A (p.Pro602=) | |
| 1 | g.7664365C= | CA1149064281 | CAMTA1 | c.1818C= (p.Pro606=) c.*1669C= (n.*1669C=) c.1728C= (p.Pro576=) c.1746C= (p.Pro582=) c.81C= (p.Pro27=) c.*1587C= (n.*1587C=) c.1806C= (p.Pro602=) | |
| 1 | g.7664365C>G | CA566512 | CAMTA1 | c.1818C>G (p.Pro606=) c.*1669C>G (n.*1669C>G) c.1728C>G (p.Pro576=) c.1746C>G (p.Pro582=) c.81C>G (p.Pro27=) c.*1587C>G (n.*1587C>G) c.1806C>G (p.Pro602=) | dbSNP ExAC gnomAD v2 |
| 1 | g.7664365C>T | CA416027647 | CAMTA1 | c.1818C>T (p.Pro606=) c.*1669C>T (n.*1669C>T) c.1728C>T (p.Pro576=) c.1746C>T (p.Pro582=) c.81C>T (p.Pro27=) c.*1587C>T (n.*1587C>T) c.1806C>T (p.Pro602=) | gnomAD v4 |
| 1 | g.7664366C>A | CA338130701 | CAMTA1 | c.1819C>A (p.His607Asn) c.*1670C>A (n.*1670C>A) c.1729C>A (p.His577Asn) c.1747C>A (p.His583Asn) c.82C>A (p.His28Asn) c.*1588C>A (n.*1588C>A) c.1807C>A (p.His603Asn) | |
| 1 | g.7664366C>G | CA338130691 | CAMTA1 | c.1819C>G (p.His607Asp) c.*1670C>G (n.*1670C>G) c.1729C>G (p.His577Asp) c.1747C>G (p.His583Asp) c.82C>G (p.His28Asp) c.*1588C>G (n.*1588C>G) c.1807C>G (p.His603Asp) | ClinVar gnomAD v4 |
| 1 | g.7664366C>T | CA338130698 | CAMTA1 | c.1819C>T (p.His607Tyr) c.*1670C>T (n.*1670C>T) c.1729C>T (p.His577Tyr) c.1747C>T (p.His583Tyr) c.82C>T (p.His28Tyr) c.*1588C>T (n.*1588C>T) c.1807C>T (p.His603Tyr) | gnomAD v4 |
| 1 | g.7664367A= | CA1151976976 | CAMTA1 | c.1820A= (p.His607=) c.*1671A= (n.*1671A=) c.1730A= (p.His577=) c.1748A= (p.His583=) c.83A= (p.His28=) c.*1589A= (n.*1589A=) c.1808A= (p.His603=) | |
| 1 | g.7664367A>C | CA338130706 | CAMTA1 | c.1820A>C (p.His607Pro) c.*1671A>C (n.*1671A>C) c.1730A>C (p.His577Pro) c.1748A>C (p.His583Pro) c.83A>C (p.His28Pro) c.*1589A>C (n.*1589A>C) c.1808A>C (p.His603Pro) | dbSNP |
| 1 | g.7664367A>G | CA338130709 | CAMTA1 | c.1820A>G (p.His607Arg) c.*1671A>G (n.*1671A>G) c.1730A>G (p.His577Arg) c.1748A>G (p.His583Arg) c.83A>G (p.His28Arg) c.*1589A>G (n.*1589A>G) c.1808A>G (p.His603Arg) | gnomAD v4 |
| 1 | g.7664367A>T | CA338130710 | CAMTA1 | c.1820A>T (p.His607Leu) c.*1671A>T (n.*1671A>T) c.1730A>T (p.His577Leu) c.1748A>T (p.His583Leu) c.83A>T (p.His28Leu) c.*1589A>T (n.*1589A>T) c.1808A>T (p.His603Leu) | |
| 1 | g.7664368C>A | CA338130714 | CAMTA1 | c.1821C>A (p.His607Gln) c.*1672C>A (n.*1672C>A) c.1731C>A (p.His577Gln) c.1749C>A (p.His583Gln) c.84C>A (p.His28Gln) c.*1590C>A (n.*1590C>A) c.1809C>A (p.His603Gln) | |
| 1 | g.7664368C>G | CA338130719 | CAMTA1 | c.1821C>G (p.His607Gln) c.*1672C>G (n.*1672C>G) c.1731C>G (p.His577Gln) c.1749C>G (p.His583Gln) c.84C>G (p.His28Gln) c.*1590C>G (n.*1590C>G) c.1809C>G (p.His603Gln) | |
| 1 | g.7664368C>T | CA416027656 | CAMTA1 | c.1821C>T (p.His607=) c.*1672C>T (n.*1672C>T) c.1731C>T (p.His577=) c.1749C>T (p.His583=) c.84C>T (p.His28=) c.*1590C>T (n.*1590C>T) c.1809C>T (p.His603=) | |
| 1 | g.7664369A>C | CA338130728 | CAMTA1 | c.1822A>C (p.Ile608Leu) c.*1673A>C (n.*1673A>C) c.1732A>C (p.Ile578Leu) c.1750A>C (p.Ile584Leu) c.85A>C (p.Ile29Leu) c.*1591A>C (n.*1591A>C) c.1810A>C (p.Ile604Leu) | |
| 1 | g.7664369A>G | CA338130730 | CAMTA1 | c.1822A>G (p.Ile608Val) c.*1673A>G (n.*1673A>G) c.1732A>G (p.Ile578Val) c.1750A>G (p.Ile584Val) c.85A>G (p.Ile29Val) c.*1591A>G (n.*1591A>G) c.1810A>G (p.Ile604Val) | |
| 1 | g.7664369A>T | CA338130732 | CAMTA1 | c.1822A>T (p.Ile608Phe) c.*1673A>T (n.*1673A>T) c.1732A>T (p.Ile578Phe) c.1750A>T (p.Ile584Phe) c.85A>T (p.Ile29Phe) c.*1591A>T (n.*1591A>T) c.1810A>T (p.Ile604Phe) | gnomAD v4 |
| 1 | g.7664370T>A | CA338130733 | CAMTA1 | c.1823T>A (p.Ile608Asn) c.*1674T>A (n.*1674T>A) c.1733T>A (p.Ile578Asn) c.1751T>A (p.Ile584Asn) c.86T>A (p.Ile29Asn) c.*1592T>A (n.*1592T>A) c.1811T>A (p.Ile604Asn) | |
| 1 | g.7664370T>C | CA338130736 | CAMTA1 | c.1823T>C (p.Ile608Thr) c.*1674T>C (n.*1674T>C) c.1733T>C (p.Ile578Thr) c.1751T>C (p.Ile584Thr) c.86T>C (p.Ile29Thr) c.*1592T>C (n.*1592T>C) c.1811T>C (p.Ile604Thr) | dbSNP gnomAD v4 |
| 1 | g.7664370T>G | CA338130737 | CAMTA1 | c.1823T>G (p.Ile608Ser) c.*1674T>G (n.*1674T>G) c.1733T>G (p.Ile578Ser) c.1751T>G (p.Ile584Ser) c.86T>G (p.Ile29Ser) c.*1592T>G (n.*1592T>G) c.1811T>G (p.Ile604Ser) | |
| 1 | g.7664370T= | CA1151976980 | CAMTA1 | c.1823T= (p.Ile608=) c.*1674T= (n.*1674T=) c.1733T= (p.Ile578=) c.1751T= (p.Ile584=) c.86T= (p.Ile29=) c.*1592T= (n.*1592T=) c.1811T= (p.Ile604=) | |
| 1 | g.7664371C>A | CA416027669 | CAMTA1 | c.1824C>A (p.Ile608=) c.*1675C>A (n.*1675C>A) c.1734C>A (p.Ile578=) c.1752C>A (p.Ile584=) c.87C>A (p.Ile29=) c.*1593C>A (n.*1593C>A) c.1812C>A (p.Ile604=) | |
| 1 | g.7664371C>G | CA338130740 | CAMTA1 | c.1824C>G (p.Ile608Met) c.*1675C>G (n.*1675C>G) c.1734C>G (p.Ile578Met) c.1752C>G (p.Ile584Met) c.87C>G (p.Ile29Met) c.*1593C>G (n.*1593C>G) c.1812C>G (p.Ile604Met) | |
| 1 | g.7664371C>T | CA416027673 | CAMTA1 | c.1824C>T (p.Ile608=) c.*1675C>T (n.*1675C>T) c.1734C>T (p.Ile578=) c.1752C>T (p.Ile584=) c.87C>T (p.Ile29=) c.*1593C>T (n.*1593C>T) c.1812C>T (p.Ile604=) | |
| 1 | g.7664372C>A | CA338130748 | CAMTA1 | c.1825C>A (p.His609Asn) c.*1676C>A (n.*1676C>A) c.1735C>A (p.His579Asn) c.1753C>A (p.His585Asn) c.88C>A (p.His30Asn) c.*1594C>A (n.*1594C>A) c.1813C>A (p.His605Asn) | |
| 1 | g.7664372C>G | CA338130747 | CAMTA1 | c.1825C>G (p.His609Asp) c.*1676C>G (n.*1676C>G) c.1735C>G (p.His579Asp) c.1753C>G (p.His585Asp) c.88C>G (p.His30Asp) c.*1594C>G (n.*1594C>G) c.1813C>G (p.His605Asp) | |
| 1 | g.7664372C>T | CA338130745 | CAMTA1 | c.1825C>T (p.His609Tyr) c.*1676C>T (n.*1676C>T) c.1735C>T (p.His579Tyr) c.1753C>T (p.His585Tyr) c.88C>T (p.His30Tyr) c.*1594C>T (n.*1594C>T) c.1813C>T (p.His605Tyr) | gnomAD v4 |
| 1 | g.7664373A>C | CA338130749 | CAMTA1 | c.1826A>C (p.His609Pro) c.*1677A>C (n.*1677A>C) c.1736A>C (p.His579Pro) c.1754A>C (p.His585Pro) c.89A>C (p.His30Pro) c.*1595A>C (n.*1595A>C) c.1814A>C (p.His605Pro) | |
| 1 | g.7664373A>G | CA338130750 | CAMTA1 | c.1826A>G (p.His609Arg) c.*1677A>G (n.*1677A>G) c.1736A>G (p.His579Arg) c.1754A>G (p.His585Arg) c.89A>G (p.His30Arg) c.*1595A>G (n.*1595A>G) c.1814A>G (p.His605Arg) | |
| 1 | g.7664373A>T | CA338130751 | CAMTA1 | c.1826A>T (p.His609Leu) c.*1677A>T (n.*1677A>T) c.1736A>T (p.His579Leu) c.1754A>T (p.His585Leu) c.89A>T (p.His30Leu) c.*1595A>T (n.*1595A>T) c.1814A>T (p.His605Leu) | |
| 1 | g.7664374C>A | CA338130753 | CAMTA1 | c.1827C>A (p.His609Gln) c.*1678C>A (n.*1678C>A) c.1737C>A (p.His579Gln) c.1755C>A (p.His585Gln) c.90C>A (p.His30Gln) c.*1596C>A (n.*1596C>A) c.1815C>A (p.His605Gln) | |
| 1 | g.7664374C>G | CA338130755 | CAMTA1 | c.1827C>G (p.His609Gln) c.*1678C>G (n.*1678C>G) c.1737C>G (p.His579Gln) c.1755C>G (p.His585Gln) c.90C>G (p.His30Gln) c.*1596C>G (n.*1596C>G) c.1815C>G (p.His605Gln) | |
| 1 | g.7664374C>T | CA416027679 | CAMTA1 | c.1827C>T (p.His609=) c.*1678C>T (n.*1678C>T) c.1737C>T (p.His579=) c.1755C>T (p.His585=) c.90C>T (p.His30=) c.*1596C>T (n.*1596C>T) c.1815C>T (p.His605=) | |
| 1 | g.7664375C>A | CA338130758 | CAMTA1 | c.1828C>A (p.Gln610Lys) c.*1679C>A (n.*1679C>A) c.1738C>A (p.Gln580Lys) c.1756C>A (p.Gln586Lys) c.91C>A (p.Gln31Lys) c.*1597C>A (n.*1597C>A) c.1816C>A (p.Gln606Lys) | |
| 1 | g.7664375C>G | CA338130762 | CAMTA1 | c.1828C>G (p.Gln610Glu) c.*1679C>G (n.*1679C>G) c.1738C>G (p.Gln580Glu) c.1756C>G (p.Gln586Glu) c.91C>G (p.Gln31Glu) c.*1597C>G (n.*1597C>G) c.1816C>G (p.Gln606Glu) | gnomAD v4 |
| 1 | g.7664375C>T | CA338130764 | CAMTA1 | c.1828C>T (p.Gln610Ter) c.*1679C>T (n.*1679C>T) c.1738C>T (p.Gln580Ter) c.1756C>T (p.Gln586Ter) c.91C>T (p.Gln31Ter) c.*1597C>T (n.*1597C>T) c.1816C>T (p.Gln606Ter) | ClinVar |
| 1 | g.7664376A>C | CA338130768 | CAMTA1 | c.1829A>C (p.Gln610Pro) c.*1680A>C (n.*1680A>C) c.1739A>C (p.Gln580Pro) c.1757A>C (p.Gln586Pro) c.92A>C (p.Gln31Pro) c.*1598A>C (n.*1598A>C) c.1817A>C (p.Gln606Pro) | |
| 1 | g.7664376A>G | CA338130771 | CAMTA1 | c.1829A>G (p.Gln610Arg) c.*1680A>G (n.*1680A>G) c.1739A>G (p.Gln580Arg) c.1757A>G (p.Gln586Arg) c.92A>G (p.Gln31Arg) c.*1598A>G (n.*1598A>G) c.1817A>G (p.Gln606Arg) | |
| 1 | g.7664376A>T | CA338130774 | CAMTA1 | c.1829A>T (p.Gln610Leu) c.*1680A>T (n.*1680A>T) c.1739A>T (p.Gln580Leu) c.1757A>T (p.Gln586Leu) c.92A>T (p.Gln31Leu) c.*1598A>T (n.*1598A>T) c.1817A>T (p.Gln606Leu) | |
| 1 | g.7664377G>A | CA416027697 | CAMTA1 | c.1830G>A (p.Gln610=) c.*1681G>A (n.*1681G>A) c.1740G>A (p.Gln580=) c.1758G>A (p.Gln586=) c.93G>A (p.Gln31=) c.*1599G>A (n.*1599G>A) c.1818G>A (p.Gln606=) | |
| 1 | g.7664377G>C | CA338130776 | CAMTA1 | c.1830G>C (p.Gln610His) c.*1681G>C (n.*1681G>C) c.1740G>C (p.Gln580His) c.1758G>C (p.Gln586His) c.93G>C (p.Gln31His) c.*1599G>C (n.*1599G>C) c.1818G>C (p.Gln606His) | |
| 1 | g.7664377G= | CA1151976983 | CAMTA1 | c.1830G= (p.Gln610=) c.*1681G= (n.*1681G=) c.1740G= (p.Gln580=) c.1758G= (p.Gln586=) c.93G= (p.Gln31=) c.*1599G= (n.*1599G=) c.1818G= (p.Gln606=) | |
| 1 | g.7664377G>T | CA338130778 | CAMTA1 | c.1830G>T (p.Gln610His) c.*1681G>T (n.*1681G>T) c.1740G>T (p.Gln580His) c.1758G>T (p.Gln586His) c.93G>T (p.Gln31His) c.*1599G>T (n.*1599G>T) c.1818G>T (p.Gln606His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.7664378A>C | CA338130783 | CAMTA1 | c.1831A>C (p.Thr611Pro) c.*1682A>C (n.*1682A>C) c.1741A>C (p.Thr581Pro) c.1759A>C (p.Thr587Pro) c.94A>C (p.Thr32Pro) c.*1600A>C (n.*1600A>C) c.1819A>C (p.Thr607Pro) | gnomAD v3 gnomAD v4 |
| 1 | g.7664378A>G | CA338130782 | CAMTA1 | c.1831A>G (p.Thr611Ala) c.*1682A>G (n.*1682A>G) c.1741A>G (p.Thr581Ala) c.1759A>G (p.Thr587Ala) c.94A>G (p.Thr32Ala) c.*1600A>G (n.*1600A>G) c.1819A>G (p.Thr607Ala) | gnomAD v4 |
| 1 | g.7664378A>T | CA338130781 | CAMTA1 | c.1831A>T (p.Thr611Ser) c.*1682A>T (n.*1682A>T) c.1741A>T (p.Thr581Ser) c.1759A>T (p.Thr587Ser) c.94A>T (p.Thr32Ser) c.*1600A>T (n.*1600A>T) c.1819A>T (p.Thr607Ser) | |
| 1 | g.7664379C>A | CA17244874 | CAMTA1 | c.1832C>A (p.Thr611Asn) c.*1683C>A (n.*1683C>A) c.1742C>A (p.Thr581Asn) c.1760C>A (p.Thr587Asn) c.95C>A (p.Thr32Asn) c.*1601C>A (n.*1601C>A) c.1820C>A (p.Thr607Asn) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.7664379C= | CA1151976987 | CAMTA1 | c.1832C= (p.Thr611=) c.*1683C= (n.*1683C=) c.1742C= (p.Thr581=) c.1760C= (p.Thr587=) c.95C= (p.Thr32=) c.*1601C= (n.*1601C=) c.1820C= (p.Thr607=) | |
| 1 | g.7664379C>G | CA338130786 | CAMTA1 | c.1832C>G (p.Thr611Ser) c.*1683C>G (n.*1683C>G) c.1742C>G (p.Thr581Ser) c.1760C>G (p.Thr587Ser) c.95C>G (p.Thr32Ser) c.*1601C>G (n.*1601C>G) c.1820C>G (p.Thr607Ser) | |
| 1 | g.7664379C>T | CA338130787 | CAMTA1 | c.1832C>T (p.Thr611Ile) c.*1683C>T (n.*1683C>T) c.1742C>T (p.Thr581Ile) c.1760C>T (p.Thr587Ile) c.95C>T (p.Thr32Ile) c.*1601C>T (n.*1601C>T) c.1820C>T (p.Thr607Ile) | |
| 1 | g.7664380C>A | CA416027709 | CAMTA1 | c.1833C>A (p.Thr611=) c.*1684C>A (n.*1684C>A) c.1743C>A (p.Thr581=) c.1761C>A (p.Thr587=) c.96C>A (p.Thr32=) c.*1602C>A (n.*1602C>A) c.1821C>A (p.Thr607=) | |
| 1 | g.7664380C>G | CA416027711 | CAMTA1 | c.1833C>G (p.Thr611=) c.*1684C>G (n.*1684C>G) c.1743C>G (p.Thr581=) c.1761C>G (p.Thr587=) c.96C>G (p.Thr32=) c.*1602C>G (n.*1602C>G) c.1821C>G (p.Thr607=) | gnomAD v4 |
| 1 | g.7664380C>T | CA416027710 | CAMTA1 | c.1833C>T (p.Thr611=) c.*1684C>T (n.*1684C>T) c.1743C>T (p.Thr581=) c.1761C>T (p.Thr587=) c.96C>T (p.Thr32=) c.*1602C>T (n.*1602C>T) c.1821C>T (p.Thr607=) | |
| 1 | g.7664381C>A | CA338130789 | CAMTA1 | c.1834C>A (p.Pro612Thr) c.*1685C>A (n.*1685C>A) c.1744C>A (p.Pro582Thr) c.1762C>A (p.Pro588Thr) c.97C>A (p.Pro33Thr) c.*1603C>A (n.*1603C>A) c.1822C>A (p.Pro608Thr) | |
| 1 | g.7664381C= | CA1151976992 | CAMTA1 | c.1834C= (p.Pro612=) c.*1685C= (n.*1685C=) c.1744C= (p.Pro582=) c.1762C= (p.Pro588=) c.97C= (p.Pro33=) c.*1603C= (n.*1603C=) c.1822C= (p.Pro608=) | |
| 1 | g.7664381C>G | CA566513 | CAMTA1 | c.1834C>G (p.Pro612Ala) c.*1685C>G (n.*1685C>G) c.1744C>G (p.Pro582Ala) c.1762C>G (p.Pro588Ala) c.97C>G (p.Pro33Ala) c.*1603C>G (n.*1603C>G) c.1822C>G (p.Pro608Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.7664381C>T | CA338130791 | CAMTA1 | c.1834C>T (p.Pro612Ser) c.*1685C>T (n.*1685C>T) c.1744C>T (p.Pro582Ser) c.1762C>T (p.Pro588Ser) c.97C>T (p.Pro33Ser) c.*1603C>T (n.*1603C>T) c.1822C>T (p.Pro608Ser) | COSMIC |
| 1 | g.7664382C>A | CA338130798 | CAMTA1 | c.1835C>A (p.Pro612His) c.*1686C>A (n.*1686C>A) c.1745C>A (p.Pro582His) c.1763C>A (p.Pro588His) c.98C>A (p.Pro33His) c.*1604C>A (n.*1604C>A) c.1823C>A (p.Pro608His) | |
| 1 | g.7664382C= | CA1151976998 | CAMTA1 | c.1835C= (p.Pro612=) c.*1686C= (n.*1686C=) c.1745C= (p.Pro582=) c.1763C= (p.Pro588=) c.98C= (p.Pro33=) c.*1604C= (n.*1604C=) c.1823C= (p.Pro608=) | |
| 1 | g.7664382C>G | CA338130796 | CAMTA1 | c.1835C>G (p.Pro612Arg) c.*1686C>G (n.*1686C>G) c.1745C>G (p.Pro582Arg) c.1763C>G (p.Pro588Arg) c.98C>G (p.Pro33Arg) c.*1604C>G (n.*1604C>G) c.1823C>G (p.Pro608Arg) | |
| 1 | g.7664382C>T | CA338130794 | CAMTA1 | c.1835C>T (p.Pro612Leu) c.*1686C>T (n.*1686C>T) c.1745C>T (p.Pro582Leu) c.1763C>T (p.Pro588Leu) c.98C>T (p.Pro33Leu) c.*1604C>T (n.*1604C>T) c.1823C>T (p.Pro608Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.7664383C>A | CA416027718 | CAMTA1 | c.1836C>A (p.Pro612=) c.*1687C>A (n.*1687C>A) c.1746C>A (p.Pro582=) c.1764C>A (p.Pro588=) c.99C>A (p.Pro33=) c.1824C>A (p.Pro608=) | |
| 1 | g.7664383C= | CA1151977004 | CAMTA1 | c.1836C= (p.Pro612=) c.*1687C= (n.*1687C=) c.1746C= (p.Pro582=) c.1764C= (p.Pro588=) c.99C= (p.Pro33=) c.1824C= (p.Pro608=) | |
| 1 | g.7664383C>G | CA416027720 | CAMTA1 | c.1836C>G (p.Pro612=) c.*1687C>G (n.*1687C>G) c.1746C>G (p.Pro582=) c.1764C>G (p.Pro588=) c.99C>G (p.Pro33=) c.1824C>G (p.Pro608=) | gnomAD v4 |
| 1 | g.7664383C>T | CA416027721 | CAMTA1 | c.1836C>T (p.Pro612=) c.*1687C>T (n.*1687C>T) c.1746C>T (p.Pro582=) c.1764C>T (p.Pro588=) c.99C>T (p.Pro33=) c.1824C>T (p.Pro608=) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.7664384T>A | CA338130802 | CAMTA1 | c.1837T>A (p.Ser613Thr) c.*1688T>A (n.*1688T>A) c.1747T>A (p.Ser583Thr) c.1765T>A (p.Ser589Thr) c.100T>A (p.Ser34Thr) c.1825T>A (p.Ser609Thr) | |
| 1 | g.7664384T>C | CA338130804 | CAMTA1 | c.1837T>C (p.Ser613Pro) c.*1688T>C (n.*1688T>C) c.1747T>C (p.Ser583Pro) c.1765T>C (p.Ser589Pro) c.100T>C (p.Ser34Pro) c.1825T>C (p.Ser609Pro) | |
| 1 | g.7664384T>G | CA338130808 | CAMTA1 | c.1837T>G (p.Ser613Ala) c.*1688T>G (n.*1688T>G) c.1747T>G (p.Ser583Ala) c.1765T>G (p.Ser589Ala) c.100T>G (p.Ser34Ala) c.1825T>G (p.Ser609Ala) | |
| 1 | g.7664384_7664385delinsTC | CA1151977007 | CAMTA1 | c.1837_1838delinsTC (p.Ser613=) c.*1688_*1689delinsTC (n.*1688_*1689delinsTC) c.1747_1748delinsTC (p.Ser583=) c.1765_1766delinsTC (p.Ser589=) c.100_101delinsTC (p.Ser34=) c.1825_1826delinsTC (p.Ser609=) | |
| 1 | g.7664385C>A | CA338130812 | CAMTA1 | c.1838C>A (p.Ser613Tyr) c.*1689C>A (n.*1689C>A) c.1748C>A (p.Ser583Tyr) c.1766C>A (p.Ser589Tyr) c.101C>A (p.Ser34Tyr) c.1826C>A (p.Ser609Tyr) | |
| 1 | g.7664385C>G | CA338130813 | CAMTA1 | c.1838C>G (p.Ser613Cys) c.*1689C>G (n.*1689C>G) c.1748C>G (p.Ser583Cys) c.1766C>G (p.Ser589Cys) c.101C>G (p.Ser34Cys) c.1826C>G (p.Ser609Cys) | |
| 1 | g.7664385C>T | CA338130814 | CAMTA1 | c.1838C>T (p.Ser613Phe) c.*1689C>T (n.*1689C>T) c.1748C>T (p.Ser583Phe) c.1766C>T (p.Ser589Phe) c.101C>T (p.Ser34Phe) c.1826C>T (p.Ser609Phe) | COSMIC COSMIC |
| 1 | g.7664388del | CA916101348 | CAMTA1 | c.1841del (p.Pro614ArgfsTer22) c.*1692del (n.*1692del) c.1751del (p.Pro584ArgfsTer22) c.1769del (p.Pro590ArgfsTer22) c.104del (p.Pro35ArgfsTer22) c.1829del (p.Pro610ArgfsTer22) | dbSNP |
| 1 | g.7664386C>A | CA416026793 | CAMTA1 | c.1839C>A (p.Ser613=) c.*1690C>A (n.*1690C>A) c.1749C>A (p.Ser583=) c.1767C>A (p.Ser589=) c.102C>A (p.Ser34=) c.1827C>A (p.Ser609=) | |
| 1 | g.7664386C>G | CA416026796 | CAMTA1 | c.1839C>G (p.Ser613=) c.*1690C>G (n.*1690C>G) c.1749C>G (p.Ser583=) c.1767C>G (p.Ser589=) c.102C>G (p.Ser34=) c.1827C>G (p.Ser609=) | |
| 1 | g.7664386C>T | CA416026799 | CAMTA1 | c.1839C>T (p.Ser613=) c.*1690C>T (n.*1690C>T) c.1749C>T (p.Ser583=) c.1767C>T (p.Ser589=) c.102C>T (p.Ser34=) c.1827C>T (p.Ser609=) | COSMIC |
| 1 | g.7664387C>A | CA338130815 | CAMTA1 | c.1840C>A (p.Pro614Thr) c.*1691C>A (n.*1691C>A) c.1750C>A (p.Pro584Thr) c.1768C>A (p.Pro590Thr) c.103C>A (p.Pro35Thr) c.1828C>A (p.Pro610Thr) | |
| 1 | g.7664387C>G | CA338130817 | CAMTA1 | c.1840C>G (p.Pro614Ala) c.*1691C>G (n.*1691C>G) c.1750C>G (p.Pro584Ala) c.1768C>G (p.Pro590Ala) c.103C>G (p.Pro35Ala) c.1828C>G (p.Pro610Ala) | |
| 1 | g.7664387C>T | CA338130816 | CAMTA1 | c.1840C>T (p.Pro614Ser) c.*1691C>T (n.*1691C>T) c.1750C>T (p.Pro584Ser) c.1768C>T (p.Pro590Ser) c.103C>T (p.Pro35Ser) c.1828C>T (p.Pro610Ser) | |
| 1 | g.7664388C>A | CA338130818 | CAMTA1 | c.1841C>A (p.Pro614Gln) c.*1692C>A (n.*1692C>A) c.1751C>A (p.Pro584Gln) c.1769C>A (p.Pro590Gln) c.104C>A (p.Pro35Gln) c.1829C>A (p.Pro610Gln) | |
| 1 | g.7664388C= | CA1151977012 | CAMTA1 | c.1841C= (p.Pro614=) c.*1692C= (n.*1692C=) c.1751C= (p.Pro584=) c.1769C= (p.Pro590=) c.104C= (p.Pro35=) c.1829C= (p.Pro610=) | |
| 1 | g.7664388C>G | CA338130819 | CAMTA1 | c.1841C>G (p.Pro614Arg) c.*1692C>G (n.*1692C>G) c.1751C>G (p.Pro584Arg) c.1769C>G (p.Pro590Arg) c.104C>G (p.Pro35Arg) c.1829C>G (p.Pro610Arg) | |
| 1 | g.7664388C>T | CA566514 | CAMTA1 | c.1841C>T (p.Pro614Leu) c.*1692C>T (n.*1692C>T) c.1751C>T (p.Pro584Leu) c.1769C>T (p.Pro590Leu) c.104C>T (p.Pro35Leu) c.1829C>T (p.Pro610Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.7664389G>A | CA566515 | CAMTA1 | c.1842G>A (p.Pro614=) c.*1693G>A (n.*1693G>A) c.1752G>A (p.Pro584=) c.1770G>A (p.Pro590=) c.105G>A (p.Pro35=) c.1830G>A (p.Pro610=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.7664389G>C | CA416026807 | CAMTA1 | c.1842G>C (p.Pro614=) c.*1693G>C (n.*1693G>C) c.1752G>C (p.Pro584=) c.1770G>C (p.Pro590=) c.105G>C (p.Pro35=) c.1830G>C (p.Pro610=) | gnomAD v4 |
| 1 | g.7664389G= | CA1141631223 | CAMTA1 | c.1842G= (p.Pro614=) c.*1693G= (n.*1693G=) c.1752G= (p.Pro584=) c.1770G= (p.Pro590=) c.105G= (p.Pro35=) c.1830G= (p.Pro610=) | |
| 1 | g.7664389G>T | CA416026808 | CAMTA1 | c.1842G>T (p.Pro614=) c.*1693G>T (n.*1693G>T) c.1752G>T (p.Pro584=) c.1770G>T (p.Pro590=) c.105G>T (p.Pro35=) c.1830G>T (p.Pro610=) | gnomAD v4 |
| 1 | g.7664390A>C | CA338130821 | CAMTA1 | c.1843A>C (p.Ser615Arg) c.*1694A>C (n.*1694A>C) c.1753A>C (p.Ser585Arg) c.1771A>C (p.Ser591Arg) c.106A>C (p.Ser36Arg) c.1831A>C (p.Ser611Arg) | |
| 1 | g.7664390A>G | CA338130823 | CAMTA1 | c.1843A>G (p.Ser615Gly) c.*1694A>G (n.*1694A>G) c.1753A>G (p.Ser585Gly) c.1771A>G (p.Ser591Gly) c.106A>G (p.Ser36Gly) c.1831A>G (p.Ser611Gly) | |
| 1 | g.7664390A>T | CA338130833 | CAMTA1 | c.1843A>T (p.Ser615Cys) c.*1694A>T (n.*1694A>T) c.1753A>T (p.Ser585Cys) c.1771A>T (p.Ser591Cys) c.106A>T (p.Ser36Cys) c.1831A>T (p.Ser611Cys) | |
| 1 | g.7664391G>A | CA338130837 | CAMTA1 | c.1844G>A (p.Ser615Asn) c.*1695G>A (n.*1695G>A) c.1754G>A (p.Ser585Asn) c.1772G>A (p.Ser591Asn) c.107G>A (p.Ser36Asn) c.1832G>A (p.Ser611Asn) | |
| 1 | g.7664391G>C | CA566516 | CAMTA1 | c.1844G>C (p.Ser615Thr) c.*1695G>C (n.*1695G>C) c.1754G>C (p.Ser585Thr) c.1772G>C (p.Ser591Thr) c.107G>C (p.Ser36Thr) c.1832G>C (p.Ser611Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.7664391G= | CA1151977024 | CAMTA1 | c.1844G= (p.Ser615=) c.*1695G= (n.*1695G=) c.1754G= (p.Ser585=) c.1772G= (p.Ser591=) c.107G= (p.Ser36=) c.1832G= (p.Ser611=) | |
| 1 | g.7664391G>T | CA338130843 | CAMTA1 | c.1844G>T (p.Ser615Ile) c.*1695G>T (n.*1695G>T) c.1754G>T (p.Ser585Ile) c.1772G>T (p.Ser591Ile) c.107G>T (p.Ser36Ile) c.1832G>T (p.Ser611Ile) |